# RGD-PIPELINE: ftp-file-extracts
# MODULE: annotations-version-1.2.0 (Jul 27, 2026)
# GENERATED-ON: 2026/08/01
# PURPOSE: annotations about active Chinchilla objects extracted from RGD database
# ONTOLOGY: RDO: RGD Disease Ontology
# CONTACT: rgd.data@mcw.edu
# FORMAT: tab delimited text
# NOTES: multiple values in a single column are separated by '|'
#
# MIGRATION NOTE (July 2026): these files were previously located in the
#   'annotated_rgd_objects_by_ontology/with_terms' directory and named using the organism
#   genus (f.e. 'rattus_terms_go'). They are now located in the 'annotations/with_terms' directory,
#   named with the RGD species short name (f.e. 'rat_terms_go.txt.gz'), and gzip-compressed.
#
#COLUMN INFORMATION:
#
#1   RGD_ID	          unique RGD_ID of the annotated object
#2   OBJECT_SYMBOL      official symbol of the annotated object
#3   OBJECT_NAME        official name of the annotated object
#4   OBJECT_TYPE        annotated object data type: one of ['gene','qtl','strain']
#5   TERM_ACC_ID        ontology term accession id
#6   TERM_NAME          ontology term name
#7   QUALIFIER          optional qualifier
#8   EVIDENCE           evidence
#9   WITH               with info
#10  ASPECT             aspect
#11  REFERENCES         db references (Reference RGDID|PUBMED ID)
#12  CREATED_DATE       created date
#13  ASSIGNED_BY        assigned by
#14  MESH_OMIM_ID       MESH:xxx or OMIM:xxx id corresponding to RDO:xxx id found in TERM_ACC_ID column (RGD/CTD Disease Ontology annotations only)
#15  CURATION_NOTES     curation notes provided by RGD curators
#16  ORIGINAL_REFERENCE original reference
RGD_ID	OBJECT_SYMBOL	OBJECT_NAME	OBJECT_TYPE	TERM_ACC_ID	TERM_NAME	QUALIFIER	EVIDENCE	WITH	ASPECT	REFERENCES	CREATED_DATE	ASSIGNED_BY	MESH_OMIM_ID	CURATION_NOTES	ORIGINAL_REFERENCE
10064458	Gas1	growth arrest specific 1	gene	DOID:4621	holoprosencephaly		ISO	RGD:1345993	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17525797
10066165	Znf283	zinc finger protein 283	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
10066165	Znf283	zinc finger protein 283	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
10066165	Znf283	zinc finger protein 283	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
10066165	Znf283	zinc finger protein 283	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10066165	Znf283	zinc finger protein 283	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
10066165	Znf283	zinc finger protein 283	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10072529	Dock8-as1	DOCK8 antisense RNA 1	gene	DOID:0080545	hyper IgE syndrome		ISO	RGD:11609841|RGD:126922578|RGD:15175112	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive	PMID:25741868|PMID:28492532
10076501	C1qtnf8	C1q and TNF related 8	gene	DOID:6039	uveal melanoma		ISO	RGD:1345449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
10080950	Tmem265	transmembrane protein 265	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:9686025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10080999	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1603389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
10080999	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:0112087	nuclear type mitochondrial complex I deficiency 23		ISO	RGD:1603389	D	RGD:7240710	20190315	OMIM			
10080999	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:0112087	nuclear type mitochondrial complex I deficiency 23		ISO	RGD:1603389	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 23	PMID:21617257|PMID:25741868|PMID:28454995|PMID:28492532|PMID:32341820|PMID:33715266|PMID:35141356
10080999	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:12849	autistic disorder		ISO	RGD:1603389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
10080999	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:1969	cerebral palsy		ISO	RGD:1603389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
10080999	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:3652	Leigh disease		ISO	RGD:1603389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868|PMID:28492532
10080999	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:4362	cervical cancer		ISO	RGD:1603389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10080999	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10080999	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:630	genetic disease		ISO	RGD:1603389	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
10080999	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1603389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
10080999	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1603389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
10080999	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:9004538	Hearing Loss		ISO	RGD:1603389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
10080999	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
10080999	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1603389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:21617257|PMID:25741868|PMID:28454995|PMID:28492532|PMID:32341820|PMID:33715266|PMID:35141356
10082211	Cmc4	C-X9-C motif containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2308876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
10082211	Cmc4	C-X9-C motif containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:2308876	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
10082211	Cmc4	C-X9-C motif containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2308876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10082211	Cmc4	C-X9-C motif containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2308876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10082678	Cdc20	cell division cycle 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10082678	Cdc20	cell division cycle 20	gene	DOID:0080600	COVID-19		ISO	RGD:731833	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
10082678	Cdc20	cell division cycle 20	gene	DOID:10534	stomach cancer		ISO	RGD:731833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10082678	Cdc20	cell division cycle 20	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
10082678	Cdc20	cell division cycle 20	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10082678	Cdc20	cell division cycle 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10082678	Cdc20	cell division cycle 20	gene	DOID:9007104	Oocyte/Zygote/Embryo Maturation Arrest 14		ISO	RGD:731833	D	RGD:7240710	20230505	OMIM			
10082678	Cdc20	cell division cycle 20	gene	DOID:9007104	Oocyte/Zygote/Embryo Maturation Arrest 14		ISO	RGD:731833	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 14 | ClinVar Annotator: match by term: Oocyte maturation defect 14	PMID:25741868
10082678	Cdc20	cell division cycle 20	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
10082705	Mkrn3	makorin ring finger protein 3	gene	DOID:0112309	central precocious puberty 2		ISO	RGD:1322529	D	RGD:7240710	20180130	OMIM			
10082705	Mkrn3	makorin ring finger protein 3	gene	DOID:0112309	central precocious puberty 2		ISO	RGD:1322529	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MKRN3-related condition | ClinVar Annotator: match by term: PRECOCIOUS PUBERTY, CENTRAL, 2 | ClinVar Annotator: match by term: Precocious puberty, central, 2	PMID:23738509|PMID:25741868|PMID:28492532|PMID:30462148
10082705	Mkrn3	makorin ring finger protein 3	gene	DOID:11983	Prader-Willi syndrome		ISO	RGD:1322529	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Prader-Willi syndrome	PMID:25741868
10082705	Mkrn3	makorin ring finger protein 3	gene	DOID:12849	autistic disorder		ISO	RGD:1322529	D	RGD:8554872	20250423	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
10082705	Mkrn3	makorin ring finger protein 3	gene	DOID:630	genetic disease		ISO	RGD:1322529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
10082705	Mkrn3	makorin ring finger protein 3	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1322529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:0050848	obstructive sleep apnea	susceptibility	ISO	RGD:731289	D	RGD:9068941	20200609	RGD		associated with Hypertension;DNA:polymorphism: :p.R389G (human)	PMID:20948559|REF_RGD_ID:4145102
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:10763	hypertension		ISO	RGD:2059	D	RGD:9068941	20200609	RGD		protein:increased expression:aorta	PMID:19060223|REF_RGD_ID:5129127
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:10763	hypertension		ISO	RGD:731289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10673262|PMID:9260993
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:10763	hypertension		ISO	RGD:731289	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;	PMID:20398560|REF_RGD_ID:7241549
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:11664	nephrosclerosis	disease_progression	ISO	RGD:731289	D	RGD:9068941	20200609	RGD		associated with hypertension;DNA:missense mutations, haplotype:cds:p.S49G(rs1801252),p.R389G (rs1801253)(human):	PMID:19745105|REF_RGD_ID:7241815
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:731289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11436944
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:2059	D	RGD:9068941	20200609	RGD			PMID:18287209|REF_RGD_ID:5129132
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9554809
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:12932	endomyocardial fibrosis		ISO	RGD:731289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14502278
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:13544	low tension glaucoma	susceptibility	ISO	RGD:731289	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.R389G(human)	PMID:16785856|REF_RGD_ID:8548468
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:1485	cystic fibrosis		ISO	RGD:731289	D	RGD:9068941	20200609	RGD			PMID:20203292|REF_RGD_ID:5129107
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:1591	renovascular hypertension		ISO	RGD:2059	D	RGD:9068941	20200609	RGD			PMID:15592645|PMID:17278011|REF_RGD_ID:7241568|REF_RGD_ID:7241580
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:1712	aortic valve stenosis		ISO	RGD:731289	D	RGD:9068941	20200609	RGD			PMID:1648674|REF_RGD_ID:7241565
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:731289	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to	
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:4195	hyperglycemia		ISO	RGD:2059	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:decreased expression:heart	PMID:21831645|REF_RGD_ID:6893641
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:5844	myocardial infarction		ISO	RGD:2059	D	RGD:9068941	20200609	RGD			PMID:17143192|REF_RGD_ID:7241557
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:6000	congestive heart failure		ISO	RGD:2059	D	RGD:9068941	20241219	RGD			PMID:19587314|REF_RGD_ID:5129119
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:6000	congestive heart failure		ISO	RGD:731289	D	RGD:9068941	20241219	CTD		CTD Direct Evidence: marker/mechanism	PMID:12374873|PMID:14502278|PMID:15816327|PMID:21516734|PMID:7586371
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:6000	congestive heart failure		ISO	RGD:731289	D	RGD:9068941	20241219	RGD		DNA:polymorphism: :p.R389G (human)	PMID:14502278|REF_RGD_ID:737774
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:824	periodontitis		ISO	RGD:2059	D	RGD:9068941	20200609	RGD			PMID:18275933|REF_RGD_ID:5129135
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:824	periodontitis		ISO	RGD:731289	D	RGD:9068941	20200609	RGD			PMID:21958237|REF_RGD_ID:7241545
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:731289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17003101
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:9000483	Angina Pectoris		ISO	RGD:731289	D	RGD:9068941	20200609	RGD			PMID:11527135|REF_RGD_ID:5129114
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2059	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver	PMID:19785950|REF_RGD_ID:5129118
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2059	D	RGD:9068941	20200609	RGD			PMID:19283893|REF_RGD_ID:5129125
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:9003996	Birth Weight		ISO	RGD:731289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23202124
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2059	D	RGD:9068941	20200609	RGD			PMID:20451506|REF_RGD_ID:5129116
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:2059	D	RGD:9068941	20200609	RGD			PMID:17143192|REF_RGD_ID:7241557
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:731289	D	RGD:9068941	20200609	RGD		protein:decreased expression:left ventricle:	PMID:8181801|REF_RGD_ID:7241563
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2059	D	RGD:9068941	20200609	RGD		protein:decreased expression:left ventricle muscular part	PMID:21054861|REF_RGD_ID:5129115
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:9006450	Familial Natural Short Sleep 2		ISO	RGD:731289	D	RGD:7240710	20240605	OMIM			
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:9006450	Familial Natural Short Sleep 2		ISO	RGD:731289	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADRB1-related disorder | ClinVar Annotator: match by term: SHORT SLEEP, FAMILIAL NATURAL, 2	
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:9007039	Ventricular Dysfunction		ISO	RGD:731289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14502278
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:731289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9554809
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:9007278	Anaphylaxis	disease_progression	ISO	RGD:2059	D	RGD:9068941	20200609	RGD			PMID:20959119|REF_RGD_ID:6893644
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2059	D	RGD:9068941	20200609	RGD			PMID:17201736|REF_RGD_ID:5129149
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:731289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10900253
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:9009039	Hyperemia		ISO	RGD:731289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17345787
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:731289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18378355
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:2059	D	RGD:9068941	20200609	RGD			PMID:21491159|REF_RGD_ID:6893642
10083655	Adrb1	adrenoceptor beta 1	gene	DOID:9970	obesity		ISO	RGD:731289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12032746
10084575	Gng8	G protein subunit gamma 8	gene	DOID:10534	stomach cancer		ISO	RGD:735730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10084575	Gng8	G protein subunit gamma 8	gene	DOID:409	liver disease		ISO	RGD:735730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
10084596	Foxd1	forkhead box D1	gene	DOID:1612	breast cancer		ISO	RGD:1343882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
10085659	Bend5	BEN domain containing 5	gene	DOID:10283	prostate cancer		ISO	RGD:1606228	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
10086815	Kiaa0040	KIAA0040 ortholog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2290033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10086815	Kiaa0040	KIAA0040 ortholog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2290033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10089213	Znf579	zinc finger protein 579	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10090446	Tmem177	transmembrane protein 177	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10090446	Tmem177	transmembrane protein 177	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
10090455	Nkx3-2	NK3 homeobox 2	gene	DOID:1324	lung cancer		ISO	RGD:1353604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
10090455	Nkx3-2	NK3 homeobox 2	gene	DOID:1909	melanoma		ISO	RGD:1353604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
10090455	Nkx3-2	NK3 homeobox 2	gene	DOID:630	genetic disease		ISO	RGD:1353604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
10090455	Nkx3-2	NK3 homeobox 2	gene	DOID:65	connective tissue disease		ISO	RGD:1353604	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
10090455	Nkx3-2	NK3 homeobox 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10090455	Nkx3-2	NK3 homeobox 2	gene	DOID:9008170	Spondylo-Megaepiphyseal-Metaphyseal Dysplasia		ISO	RGD:1353604	D	RGD:7240710	20180130	OMIM			
10090455	Nkx3-2	NK3 homeobox 2	gene	DOID:9008170	Spondylo-Megaepiphyseal-Metaphyseal Dysplasia		ISO	RGD:1353604	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NKX3-2-related condition | ClinVar Annotator: match by term: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA | ClinVar Annotator: match by term: Spondylo-megaepiphyseal-metaphyseal dysplasia	PMID:25741868|PMID:28492532|PMID:29704686
10090455	Nkx3-2	NK3 homeobox 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10090462	A1bg	alpha-1-B glycoprotein	gene	DOID:5419	schizophrenia		ISO	RGD:69466	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25821032
10090462	A1bg	alpha-1-B glycoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10090462	A1bg	alpha-1-B glycoprotein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10090462	A1bg	alpha-1-B glycoprotein	gene	DOID:9005369	Hepatomegaly		ISO	RGD:69466	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
10092336	Lrp12	LDL receptor related protein 12	gene	DOID:0081297	oculopharyngodistal myopathy 1		ISO	RGD:1312675	D	RGD:7240710	20200722	OMIM			
10092336	Lrp12	LDL receptor related protein 12	gene	DOID:0081382	amyotrophic lateral sclerosis type 28		ISO	RGD:1312675	D	RGD:7240710	20230809	OMIM			
10092336	Lrp12	LDL receptor related protein 12	gene	DOID:0081382	amyotrophic lateral sclerosis type 28		ISO	RGD:1312675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 28 | ClinVar Annotator: match by term: LRP12-related condition	PMID:25741868
10092336	Lrp12	LDL receptor related protein 12	gene	DOID:0110645	long QT syndrome 2		ISO	RGD:1312675	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 2	PMID:25741868
10092336	Lrp12	LDL receptor related protein 12	gene	DOID:11719	oculopharyngeal muscular dystrophy		ISO	RGD:1312675	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31332380
10092336	Lrp12	LDL receptor related protein 12	gene	DOID:1612	breast cancer		ISO	RGD:1312675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
10092336	Lrp12	LDL receptor related protein 12	gene	DOID:1909	melanoma		ISO	RGD:1312675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
10092336	Lrp12	LDL receptor related protein 12	gene	DOID:3275	thymoma		ISO	RGD:1312675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
10092336	Lrp12	LDL receptor related protein 12	gene	DOID:4362	cervical cancer		ISO	RGD:1312675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10092336	Lrp12	LDL receptor related protein 12	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
10092336	Lrp12	LDL receptor related protein 12	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
10092336	Lrp12	LDL receptor related protein 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1312675	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
10092336	Lrp12	LDL receptor related protein 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
10092336	Lrp12	LDL receptor related protein 12	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1312675	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
10092336	Lrp12	LDL receptor related protein 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10092336	Lrp12	LDL receptor related protein 12	gene	DOID:630	genetic disease		ISO	RGD:1312675	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
10092336	Lrp12	LDL receptor related protein 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10092336	Lrp12	LDL receptor related protein 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10093894	Plvap	plasmalemma vesicle associated protein	gene	DOID:1324	lung cancer		ISO	RGD:1353643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
10093894	Plvap	plasmalemma vesicle associated protein	gene	DOID:1459	hypothyroidism		ISO	RGD:1353643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
10093894	Plvap	plasmalemma vesicle associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1353643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10093894	Plvap	plasmalemma vesicle associated protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
10093894	Plvap	plasmalemma vesicle associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10093894	Plvap	plasmalemma vesicle associated protein	gene	DOID:630	genetic disease		ISO	RGD:1353643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
10093894	Plvap	plasmalemma vesicle associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353643	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
10093894	Plvap	plasmalemma vesicle associated protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1353643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
10093894	Plvap	plasmalemma vesicle associated protein	gene	DOID:9008539	Perinatal Death		ISO	RGD:1353643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal death	PMID:25741868
10093894	Plvap	plasmalemma vesicle associated protein	gene	DOID:9008956	DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE		ISO	RGD:1353643	D	RGD:7240710	20190315	OMIM			
10093894	Plvap	plasmalemma vesicle associated protein	gene	DOID:9008956	DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE		ISO	RGD:1353643	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE | ClinVar Annotator: match by term: Diarrhea 10, protein-losing enteropathy type | ClinVar Annotator: match by term: PLVAP-related condition	PMID:18842627|PMID:25741868|PMID:26207260|PMID:28492532|PMID:29661969
10093904	Tefm	transcription elongation factor, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1605945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10093904	Tefm	transcription elongation factor, mitochondrial	gene	DOID:3275	thymoma		ISO	RGD:1605945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
10093904	Tefm	transcription elongation factor, mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:1605945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10093904	Tefm	transcription elongation factor, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10093904	Tefm	transcription elongation factor, mitochondrial	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10093904	Tefm	transcription elongation factor, mitochondrial	gene	DOID:9001543	Combined Oxidative Phosphorylation Deficiency 58		ISO	RGD:1605945	D	RGD:7240710	20230802	OMIM			
10093904	Tefm	transcription elongation factor, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10098298	Gpr27	G protein-coupled receptor 27	gene	DOID:1790	malignant mesothelioma		ISO	RGD:733557	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
10099434	Dmbt1	deleted in malignant brain tumors 1	gene	DOID:0050771	pheochromocytoma		ISO	RGD:61984	D	RGD:9068941	20200609	RGD		mRNA:decreased expression	PMID:17102098|REF_RGD_ID:1599780
10099434	Dmbt1	deleted in malignant brain tumors 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10099434	Dmbt1	deleted in malignant brain tumors 1	gene	DOID:10534	stomach cancer		ISO	RGD:735357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10099434	Dmbt1	deleted in malignant brain tumors 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
10099434	Dmbt1	deleted in malignant brain tumors 1	gene	DOID:1324	lung cancer		ISO	RGD:735357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
10099434	Dmbt1	deleted in malignant brain tumors 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
10099434	Dmbt1	deleted in malignant brain tumors 1	gene	DOID:2394	ovarian cancer		ISO	RGD:735357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
10099434	Dmbt1	deleted in malignant brain tumors 1	gene	DOID:3068	glioblastoma		ISO	RGD:735357	D	RGD:9068941	20200609	RGD		DNA:deletion	PMID:9288095|REF_RGD_ID:1599778
10099434	Dmbt1	deleted in malignant brain tumors 1	gene	DOID:4362	cervical cancer		ISO	RGD:735357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10099434	Dmbt1	deleted in malignant brain tumors 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
10099434	Dmbt1	deleted in malignant brain tumors 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10099434	Dmbt1	deleted in malignant brain tumors 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:735357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
10099434	Dmbt1	deleted in malignant brain tumors 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10099434	Dmbt1	deleted in malignant brain tumors 1	gene	DOID:9007971	Nose Neoplasms		ISO	RGD:61984	D	RGD:9068941	20200609	RGD		mRNA, Protein:increased expression	PMID:12419858|REF_RGD_ID:1599782
10102463	Ctf1	cardiotrophin 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1350898	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532
10102463	Ctf1	cardiotrophin 1	gene	DOID:0060611	abdominal obesity-metabolic syndrome		ISO	RGD:736471	D	RGD:9068941	20220825	MouseDO			
10102463	Ctf1	cardiotrophin 1	gene	DOID:10763	hypertension		ISO	RGD:1350898	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:15716706|REF_RGD_ID:1626411
10102463	Ctf1	cardiotrophin 1	gene	DOID:10763	hypertension		ISO	RGD:2442	D	RGD:9068941	20200917	RGD		mRNA:increased expression:cardiac ventricle	PMID:8604995|REF_RGD_ID:69823
10102463	Ctf1	cardiotrophin 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1350898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532
10102463	Ctf1	cardiotrophin 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1350898	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11058912|PMID:24033266|PMID:25741868|PMID:27149842|PMID:28492532
10102463	Ctf1	cardiotrophin 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1350898	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11058912|PMID:24033266|PMID:25741868|PMID:26084686|PMID:27149842|PMID:28492532
10102463	Ctf1	cardiotrophin 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1350898	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11058912|PMID:24033266|PMID:25741868|PMID:26084686|PMID:27149842|PMID:28492532|PMID:34228484
10102463	Ctf1	cardiotrophin 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1350898	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:24033266|PMID:25741868|PMID:27149842|PMID:28492532
10102463	Ctf1	cardiotrophin 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1350898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532
10102463	Ctf1	cardiotrophin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1350898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10102463	Ctf1	cardiotrophin 1	gene	DOID:557	kidney disease		ISO	RGD:1350898	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23335628
10102463	Ctf1	cardiotrophin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10102463	Ctf1	cardiotrophin 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1350898	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21803294
10102463	Ctf1	cardiotrophin 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1350898	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18400235|PMID:19100119
10102463	Ctf1	cardiotrophin 1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1350898	D	RGD:9068941	20200917	RGD		associated with hypertension;protein:increased expression:plasma	PMID:15716706|REF_RGD_ID:1626411
10102463	Ctf1	cardiotrophin 1	gene	DOID:9005749	Necrosis		ISO	RGD:1350898	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23335628
10102463	Ctf1	cardiotrophin 1	gene	DOID:9006024	Hypotension		ISO	RGD:1350898	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11304496
10102463	Ctf1	cardiotrophin 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1350898	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21803294
10102463	Ctf1	cardiotrophin 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736471	D	RGD:9068941	20220825	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
10102463	Ctf1	cardiotrophin 1	gene	DOID:9970	obesity		ISO	RGD:1350898	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21803294
10104730	Defb135	defensin beta 135	gene	DOID:0060058	lymphoma		ISO	RGD:2307454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
10104730	Defb135	defensin beta 135	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:2307454	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm	PMID:32748548
10105221	Tmem259	transmembrane protein 259	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
10105221	Tmem259	transmembrane protein 259	gene	DOID:1909	melanoma		ISO	RGD:1322435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
10105221	Tmem259	transmembrane protein 259	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
10105221	Tmem259	transmembrane protein 259	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10105221	Tmem259	transmembrane protein 259	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
10105221	Tmem259	transmembrane protein 259	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10105221	Tmem259	transmembrane protein 259	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10105221	Tmem259	transmembrane protein 259	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
10108911	Trnp1	TMF1 regulated nuclear protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10108911	Trnp1	TMF1 regulated nuclear protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1601688	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
10108911	Trnp1	TMF1 regulated nuclear protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1601688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
10110121	Hhla2	HHLA2 member of B7 family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
10110121	Hhla2	HHLA2 member of B7 family	gene	DOID:10534	stomach cancer		ISO	RGD:1350112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10110121	Hhla2	HHLA2 member of B7 family	gene	DOID:1324	lung cancer		ISO	RGD:1350112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
10110121	Hhla2	HHLA2 member of B7 family	gene	DOID:2394	ovarian cancer		ISO	RGD:1350112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
10110121	Hhla2	HHLA2 member of B7 family	gene	DOID:5041	esophageal cancer		ISO	RGD:1350112	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
10110121	Hhla2	HHLA2 member of B7 family	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
10110121	Hhla2	HHLA2 member of B7 family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10114792	Ftmt	ferritin mitochondrial	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
10122869	Atp5me	ATP synthase membrane subunit e	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
10122869	Atp5me	ATP synthase membrane subunit e	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10122869	Atp5me	ATP synthase membrane subunit e	gene	DOID:1115	sarcoma		ISO	RGD:1350783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
10122869	Atp5me	ATP synthase membrane subunit e	gene	DOID:114	heart disease		ISO	RGD:1350783	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:16844662
10122869	Atp5me	ATP synthase membrane subunit e	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10122869	Atp5me	ATP synthase membrane subunit e	gene	DOID:9003566	Mesothelioma		ISO	RGD:1350783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
10122869	Atp5me	ATP synthase membrane subunit e	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10129557	Mrps28	mitochondrial ribosomal protein S28	gene	DOID:0112114	combined oxidative phosphorylation deficiency 47		ISO	RGD:1313591	D	RGD:7240710	20200812	OMIM			
10129557	Mrps28	mitochondrial ribosomal protein S28	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
10131090	Tmem129	transmembrane protein 129, E3 ubiquitin ligase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
10131090	Tmem129	transmembrane protein 129, E3 ubiquitin ligase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10131090	Tmem129	transmembrane protein 129, E3 ubiquitin ligase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
10131090	Tmem129	transmembrane protein 129, E3 ubiquitin ligase	gene	DOID:4362	cervical cancer		ISO	RGD:1606992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10131090	Tmem129	transmembrane protein 129, E3 ubiquitin ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10131090	Tmem129	transmembrane protein 129, E3 ubiquitin ligase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10131559	Plin4	perilipin 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
10131559	Plin4	perilipin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10131559	Plin4	perilipin 4	gene	DOID:0070042	Coffin-Siris syndrome 1		ISO	RGD:1347657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome 1	PMID:25741868
10131559	Plin4	perilipin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1347657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10131559	Plin4	perilipin 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
10131559	Plin4	perilipin 4	gene	DOID:1115	sarcoma		ISO	RGD:1347657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
10131559	Plin4	perilipin 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
10131559	Plin4	perilipin 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
10131559	Plin4	perilipin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10131559	Plin4	perilipin 4	gene	DOID:9005244	Vacuolar Neuromyopathy		ISO	RGD:1347657	D	RGD:7240710	20230802	OMIM			
10131559	Plin4	perilipin 4	gene	DOID:9005244	Vacuolar Neuromyopathy		ISO	RGD:1347657	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Vacuolar Neuromyopathy	PMID:25741868
10131559	Plin4	perilipin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10132159	Nova2	NOVA alternative splicing regulator 2	gene	DOID:1059	intellectual disability		ISO	RGD:1317566	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25167861
10132159	Nova2	NOVA alternative splicing regulator 2	gene	DOID:3275	thymoma		ISO	RGD:1317566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
10132159	Nova2	NOVA alternative splicing regulator 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10132159	Nova2	NOVA alternative splicing regulator 2	gene	DOID:630	genetic disease		ISO	RGD:1317566	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
10132159	Nova2	NOVA alternative splicing regulator 2	gene	DOID:9001712	Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities		ISO	RGD:1317566	D	RGD:7240710	20200812	OMIM			
10132159	Nova2	NOVA alternative splicing regulator 2	gene	DOID:9001712	Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities		ISO	RGD:1317566	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NOVA2-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities	PMID:25741868
10132159	Nova2	NOVA alternative splicing regulator 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
10133507	Defb136	defensin beta 136	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:150333719	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm	PMID:32748548
10135390	Brk1	BRICK1 subunit of SCAR/WAVE actin nucleating complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10135390	Brk1	BRICK1 subunit of SCAR/WAVE actin nucleating complex	gene	DOID:3275	thymoma		ISO	RGD:1352437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
10135390	Brk1	BRICK1 subunit of SCAR/WAVE actin nucleating complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10139980	Uhrf1	ubiquitin like with PHD and ring finger domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10139980	Uhrf1	ubiquitin like with PHD and ring finger domains 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1352913	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
10139980	Uhrf1	ubiquitin like with PHD and ring finger domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10139980	Uhrf1	ubiquitin like with PHD and ring finger domains 1	gene	DOID:1115	sarcoma		ISO	RGD:1352913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
10139980	Uhrf1	ubiquitin like with PHD and ring finger domains 1	gene	DOID:1909	melanoma		ISO	RGD:1352913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
10139980	Uhrf1	ubiquitin like with PHD and ring finger domains 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
10139980	Uhrf1	ubiquitin like with PHD and ring finger domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352913	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
10139980	Uhrf1	ubiquitin like with PHD and ring finger domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10139980	Uhrf1	ubiquitin like with PHD and ring finger domains 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
10139980	Uhrf1	ubiquitin like with PHD and ring finger domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10139980	Uhrf1	ubiquitin like with PHD and ring finger domains 1	gene	DOID:9002928	Colonic Neoplasms	treatment	ISO	RGD:1332040	D	RGD:9068941	20200609	RGD			PMID:20442318|REF_RGD_ID:9587430
10139980	Uhrf1	ubiquitin like with PHD and ring finger domains 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
10139980	Uhrf1	ubiquitin like with PHD and ring finger domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10139980	Uhrf1	ubiquitin like with PHD and ring finger domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10139980	Uhrf1	ubiquitin like with PHD and ring finger domains 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
10140531	Tnni2	troponin I2, fast skeletal type	gene	DOID:0050646	distal arthrogryposis		ISO	RGD:1344978	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Distal arthrogryposis	PMID:12592607|PMID:1710100|PMID:17101001|PMID:17194691|PMID:25741868
10140531	Tnni2	troponin I2, fast skeletal type	gene	DOID:0080000	muscular disease		ISO	RGD:1344978	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19628585
10140531	Tnni2	troponin I2, fast skeletal type	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1344978	D	RGD:9068941	20260604	RGD		distal arthrogryposis type 2B, OMIM:601680	PMID:12592607|REF_RGD_ID:1599481
10140531	Tnni2	troponin I2, fast skeletal type	gene	DOID:0111599	distal arthrogryposis type 2B		ISO	RGD:1344978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities | ClinVar Annotator: match by term: Arthrogryposis multiplex congenita, distal, type 2B	PMID:17194691|PMID:23401156|PMID:25340332|PMID:25741868|PMID:26526134|PMID:27790376|PMID:28492532
10140531	Tnni2	troponin I2, fast skeletal type	gene	DOID:0111600	distal arthrogryposis type 2B1		ISO	RGD:1344978	D	RGD:7240710	20180130	OMIM			
10140531	Tnni2	troponin I2, fast skeletal type	gene	DOID:0111600	distal arthrogryposis type 2B1		ISO	RGD:1344978	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 | ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 | ClinVar Annotator: match by term: TNNI2-related condition | ClinVar Annotator: match by term: distal arthrogryposis type 2B1	PMID:12592607|PMID:1710100|PMID:17101001|PMID:17194691|PMID:23401156|PMID:24343878|PMID:25741868|PMID:28492532|PMID:33820833
10140531	Tnni2	troponin I2, fast skeletal type	gene	DOID:10534	stomach cancer		ISO	RGD:1344978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10140531	Tnni2	troponin I2, fast skeletal type	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868
10140531	Tnni2	troponin I2, fast skeletal type	gene	DOID:1324	lung cancer		ISO	RGD:1344978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
10140531	Tnni2	troponin I2, fast skeletal type	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
10140531	Tnni2	troponin I2, fast skeletal type	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10140531	Tnni2	troponin I2, fast skeletal type	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
10140531	Tnni2	troponin I2, fast skeletal type	gene	DOID:630	genetic disease		ISO	RGD:1344978	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
10140531	Tnni2	troponin I2, fast skeletal type	gene	DOID:9007573	Flatfoot		ISO	RGD:1344978	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Calcaneovalgus deformity	PMID:12592607|PMID:1710100|PMID:17101001|PMID:17194691|PMID:25741868
10140531	Tnni2	troponin I2, fast skeletal type	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
10141913	Serpina10	serpin family A member 10	gene	DOID:0050925	small intestine carcinoid neuroendocrine tumor		ISO	RGD:621220	D	RGD:9068941	20250724	RGD		mRNA:increased expression:small intestine tumor	PMID:29154080|REF_RGD_ID:617256274
10141913	Serpina10	serpin family A member 10	gene	DOID:10534	stomach cancer		ISO	RGD:1353693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10141913	Serpina10	serpin family A member 10	gene	DOID:2452	thrombophilia		ISO	RGD:1353693	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15461625
10141913	Serpina10	serpin family A member 10	gene	DOID:2452	thrombophilia		ISO	RGD:1353693	D	RGD:9068941	20200609	RGD		DNA:nonsense mutations, missense mutations:cds:multiple (human)	PMID:15461625|REF_RGD_ID:1580104
10141913	Serpina10	serpin family A member 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10141913	Serpina10	serpin family A member 10	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1353693	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:15461625
10141913	Serpina10	serpin family A member 10	gene	DOID:9006618	Liver Metastasis		ISO	RGD:621220	D	RGD:9068941	20250724	RGD		mRNA:increased expression:liver tumor	PMID:29154080|REF_RGD_ID:617256274
10141913	Serpina10	serpin family A member 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10145238	Fam240a	family with sequence similarity 240 member A	gene	DOID:4362	cervical cancer		ISO	RGD:12801639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10154021	Ahnak2	AHNAK nucleoprotein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10154021	Ahnak2	AHNAK nucleoprotein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
10154021	Ahnak2	AHNAK nucleoprotein 2	gene	DOID:1324	lung cancer		ISO	RGD:1320178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
10154021	Ahnak2	AHNAK nucleoprotein 2	gene	DOID:1909	melanoma		ISO	RGD:1320178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
10154021	Ahnak2	AHNAK nucleoprotein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
10154021	Ahnak2	AHNAK nucleoprotein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
10154021	Ahnak2	AHNAK nucleoprotein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10154021	Ahnak2	AHNAK nucleoprotein 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1320178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
10154021	Ahnak2	AHNAK nucleoprotein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10156530	Znf358	zinc finger protein 358	gene	DOID:10534	stomach cancer		ISO	RGD:1321306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10156556	Ptma	prothymosin alpha	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:62120	D	RGD:9068941	20240425	MouseDO			
10156556	Ptma	prothymosin alpha	gene	DOID:10534	stomach cancer		ISO	RGD:733876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10156556	Ptma	prothymosin alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
10156556	Ptma	prothymosin alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
10156556	Ptma	prothymosin alpha	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:733876	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16669873
10156556	Ptma	prothymosin alpha	gene	DOID:4362	cervical cancer		ISO	RGD:733876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10156556	Ptma	prothymosin alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
10156556	Ptma	prothymosin alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:733876	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
10156556	Ptma	prothymosin alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10156556	Ptma	prothymosin alpha	gene	DOID:657	adenoma		ISO	RGD:733876	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10822126
10156556	Ptma	prothymosin alpha	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:733876	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10822126
10156556	Ptma	prothymosin alpha	gene	DOID:9452	steatotic liver disease		ISO	RGD:733876	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15885234
10156556	Ptma	prothymosin alpha	gene	DOID:9675	pulmonary emphysema		ISO	RGD:62120	D	RGD:9068941	20240425	MouseDO		OMIM:130700	
10158207	Mchr2	melanin concentrating hormone receptor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10170186	Rasl11a	RAS like family 11 member A	gene	DOID:289	endometriosis		ISO	RGD:1343885	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
10170186	Rasl11a	RAS like family 11 member A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
10170186	Rasl11a	RAS like family 11 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10170186	Rasl11a	RAS like family 11 member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10170186	Rasl11a	RAS like family 11 member A	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1343885	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30224643
10170936	B3gnt4	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
10170936	B3gnt4	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	gene	DOID:1909	melanoma		ISO	RGD:1320043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
10170936	B3gnt4	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10173859	Foxe1	forkhead box E1	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:735499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	
10173859	Foxe1	forkhead box E1	gene	DOID:0050655	Bamforth-Lazarus syndrome		ISO	RGD:735499	D	RGD:7240710	20180130	OMIM			
10173859	Foxe1	forkhead box E1	gene	DOID:0050655	Bamforth-Lazarus syndrome		ISO	RGD:735499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BAMFORTH-LAZARUS SYNDROME | ClinVar Annotator: match by term: Bamforth-Lazarus syndrome	PMID:24219130|PMID:25741868
10173859	Foxe1	forkhead box E1	gene	DOID:630	genetic disease		ISO	RGD:735499	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
10173859	Foxe1	forkhead box E1	gene	DOID:9003422	Thyroid Cancer, Nonmedullary, 4		ISO	RGD:735499	D	RGD:7240710	20180418	OMIM			
10173859	Foxe1	forkhead box E1	gene	DOID:9003422	Thyroid Cancer, Nonmedullary, 4		ISO	RGD:735499	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: FOXE1-related disorder | ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 4 | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 4	PMID:25381600|PMID:25741868|PMID:28444304|PMID:32428920
10178222	CUNH1orf115	chromosome unknown C1orf115 homolog	gene	DOID:0080600	COVID-19		ISO	RGD:1605938	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
10178222	CUNH1orf115	chromosome unknown C1orf115 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1605938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
10178222	CUNH1orf115	chromosome unknown C1orf115 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10178916	Znf214	zinc finger protein 214	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10178916	Znf214	zinc finger protein 214	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10179767	Ccdc6	coiled-coil domain containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10179767	Ccdc6	coiled-coil domain containing 6	gene	DOID:10534	stomach cancer		ISO	RGD:1344180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10179767	Ccdc6	coiled-coil domain containing 6	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1344180	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:33589840
10179767	Ccdc6	coiled-coil domain containing 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
10179767	Ccdc6	coiled-coil domain containing 6	gene	DOID:1324	lung cancer		ISO	RGD:1344180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
10179767	Ccdc6	coiled-coil domain containing 6	gene	DOID:3070	high grade glioma		ISO	RGD:1344180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
10179767	Ccdc6	coiled-coil domain containing 6	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1344180	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
10179767	Ccdc6	coiled-coil domain containing 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
10179767	Ccdc6	coiled-coil domain containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1344180	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
10179767	Ccdc6	coiled-coil domain containing 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
10179767	Ccdc6	coiled-coil domain containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10179767	Ccdc6	coiled-coil domain containing 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10179767	Ccdc6	coiled-coil domain containing 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
10179767	Ccdc6	coiled-coil domain containing 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult	
10182818	Ppp2r3b	protein phosphatase 2 regulatory subunit B''beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
10182818	Ppp2r3b	protein phosphatase 2 regulatory subunit B''beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10182818	Ppp2r3b	protein phosphatase 2 regulatory subunit B''beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
10182818	Ppp2r3b	protein phosphatase 2 regulatory subunit B''beta	gene	DOID:1115	sarcoma		ISO	RGD:1604626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
10182818	Ppp2r3b	protein phosphatase 2 regulatory subunit B''beta	gene	DOID:1324	lung cancer		ISO	RGD:1604626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
10182818	Ppp2r3b	protein phosphatase 2 regulatory subunit B''beta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
10182818	Ppp2r3b	protein phosphatase 2 regulatory subunit B''beta	gene	DOID:3275	thymoma		ISO	RGD:1604626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
10182818	Ppp2r3b	protein phosphatase 2 regulatory subunit B''beta	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
10182818	Ppp2r3b	protein phosphatase 2 regulatory subunit B''beta	gene	DOID:4362	cervical cancer		ISO	RGD:1604626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10182818	Ppp2r3b	protein phosphatase 2 regulatory subunit B''beta	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
10182818	Ppp2r3b	protein phosphatase 2 regulatory subunit B''beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10182818	Ppp2r3b	protein phosphatase 2 regulatory subunit B''beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10182818	Ppp2r3b	protein phosphatase 2 regulatory subunit B''beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10182818	Ppp2r3b	protein phosphatase 2 regulatory subunit B''beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10182818	Ppp2r3b	protein phosphatase 2 regulatory subunit B''beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
10182818	Ppp2r3b	protein phosphatase 2 regulatory subunit B''beta	gene	DOID:9256	colorectal cancer		ISO	RGD:1604626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
10187399	Zbtb32	zinc finger and BTB domain containing 32	gene	DOID:0080600	COVID-19		ISO	RGD:1604369	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
10187399	Zbtb32	zinc finger and BTB domain containing 32	gene	DOID:10534	stomach cancer		ISO	RGD:1604369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10187399	Zbtb32	zinc finger and BTB domain containing 32	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
10187399	Zbtb32	zinc finger and BTB domain containing 32	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10187399	Zbtb32	zinc finger and BTB domain containing 32	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10189816	CUNH8orf89	chromosome unknown C8orf89 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:9586312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10197077	Rrs1	regulator of ribosome synthesis 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1322847	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
10197077	Rrs1	regulator of ribosome synthesis 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1322847	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
10200077	Prss8	serine protease 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10200077	Prss8	serine protease 8	gene	DOID:0060713	autosomal recessive congenital ichthyosis 4B		ISO	RGD:730926	D	RGD:9068941	20220825	MouseDO		OMIM:242500	
10200077	Prss8	serine protease 8	gene	DOID:0080074	neural tube defect		ISO	RGD:730925	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24722141
10200077	Prss8	serine protease 8	gene	DOID:2394	ovarian cancer		ISO	RGD:730925	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:11584061|REF_RGD_ID:2292486
10200077	Prss8	serine protease 8	gene	DOID:3459	breast carcinoma		ISO	RGD:730925	D	RGD:9068941	20200609	RGD			PMID:11774283|REF_RGD_ID:2292485
10200077	Prss8	serine protease 8	gene	DOID:37	skin disease		ISO	RGD:730925	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22705055
10200077	Prss8	serine protease 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10200077	Prss8	serine protease 8	gene	DOID:780	placenta disease		ISO	RGD:730925	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24722141
10200077	Prss8	serine protease 8	gene	DOID:8634	prostate carcinoma in situ	disease_progression	ISO	RGD:730925	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:prostate gland	PMID:12518323|REF_RGD_ID:2292484
10200077	Prss8	serine protease 8	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730925	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms;mRNA:decreased expression:prostate gland, bone	PMID:12518323|REF_RGD_ID:2292484
10200077	Prss8	serine protease 8	gene	DOID:9001984	Fetal Diseases		ISO	RGD:730925	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22705055
10200077	Prss8	serine protease 8	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:730925	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16541421
10200077	Prss8	serine protease 8	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:730925	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate gland	PMID:12518323|REF_RGD_ID:2292484
10200077	Prss8	serine protease 8	gene	DOID:9002304	Prostatic Neoplasms	disease_progression	ISO	RGD:730925	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood	PMID:11173941|REF_RGD_ID:2292487
10200077	Prss8	serine protease 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10200077	Prss8	serine protease 8	gene	DOID:9007023	Prenatal Injuries		ISO	RGD:730925	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24722141
10200077	Prss8	serine protease 8	gene	DOID:9256	colorectal cancer		ISO	RGD:730925	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
10200077	Prss8	serine protease 8	gene	DOID:987	alopecia		ISO	RGD:619973	D	RGD:9068941	20211022	RGD		DNA:deletion:cds:exon 3 (rat)	PMID:20201958|REF_RGD_ID:150520038
10202549	Fam174c	family with sequence similarity 174 member C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10202549	Fam174c	family with sequence similarity 174 member C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346714	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
10202549	Fam174c	family with sequence similarity 174 member C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10208797	Znf599	zinc finger protein 599	gene	DOID:1324	lung cancer		ISO	RGD:1603572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
10208797	Znf599	zinc finger protein 599	gene	DOID:1909	melanoma		ISO	RGD:1603572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
10208797	Znf599	zinc finger protein 599	gene	DOID:3275	thymoma		ISO	RGD:1603572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
10208797	Znf599	zinc finger protein 599	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10210341	Ctu1	cytosolic thiouridylase subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10210341	Ctu1	cytosolic thiouridylase subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10210341	Ctu1	cytosolic thiouridylase subunit 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1602450	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
10210341	Ctu1	cytosolic thiouridylase subunit 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1602450	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
10210341	Ctu1	cytosolic thiouridylase subunit 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1602450	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
10210341	Ctu1	cytosolic thiouridylase subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10210341	Ctu1	cytosolic thiouridylase subunit 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1602450	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:10941	intracranial aneurysm		ISO	RGD:1313358	D	RGD:9068941	20230615	RGD		protein:decreased expression:middle cerebral artery (human)	PMID:25596186|REF_RGD_ID:329853324
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:10941	intracranial aneurysm	no_association	ISO	RGD:1313358	D	RGD:9068941	20230720	RGD		DNA:SNP:enhancer: (rs10958409) (human)	PMID:31250579|REF_RGD_ID:329955568
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:10941	intracranial aneurysm	susceptibility	ISO	RGD:1313358	D	RGD:9068941	20230713	RGD		DNA:SNP:enhancer: (rs1072737) (human)	PMID:22961961|PMID:29191544|PMID:31040677|REF_RGD_ID:329853325|REF_RGD_ID:329853736|REF_RGD_ID:329955463
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:10941	intracranial aneurysm	susceptibility	ISO	RGD:1313358	D	RGD:9068941	20230720	RGD		DNA:SNP:enhancer: (rs10958409) (human)	PMID:18997786|PMID:20364137|REF_RGD_ID:329955465|REF_RGD_ID:329955569
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:11561	hypertensive retinopathy	treatment	ISO	RGD:1313359	D	RGD:9068941	20230615	RGD			PMID:36200131|REF_RGD_ID:329853320
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:13608	biliary atresia		ISO	RGD:1313359	D	RGD:9068941	20220825	MouseDO			
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1313358	D	RGD:9068941	20230615	RGD		DNA:nonsense mutation:CDS:p.E185* (human)	PMID:33794346|REF_RGD_ID:329853328
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:1313358	D	RGD:9068941	20230615	RGD		protein:decreased expression:pulmonary artery (human)	PMID:36919784|REF_RGD_ID:329853737
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:4362	cervical cancer		ISO	RGD:1313358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:4947	cholangiocarcinoma	severity	ISO	RGD:1305371	D	RGD:9068941	20200609	RGD			PMID:20816680|REF_RGD_ID:4889598
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:630	genetic disease		ISO	RGD:1313358	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1305371	D	RGD:9068941	20230615	RGD		protein:decreased expression:lung (rat)	PMID:36913491|REF_RGD_ID:329853317
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1313358	D	RGD:8554872	20250603	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: SOX17-related pulmonary arterial hypertension	PMID:25741868|PMID:28492532
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:9001820	Pulmonary Arterial Hypertension	onset	ISO	RGD:1313358	D	RGD:9068941	20230615	RGD		DNA:frameshift mutations, missense mutations, SNP:CDS, intron:multiple (human)	PMID:29650961|REF_RGD_ID:329853735
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:9001820	Pulmonary Arterial Hypertension	susceptibility	ISO	RGD:1313358	D	RGD:9068941	20230713	RGD		DNA:SNPs:enhancers: (rs10103692, rs13266183) (human)	PMID:30527955|REF_RGD_ID:329955464
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:9004716	Vesicoureteral Reflux 3		ISO	RGD:1313358	D	RGD:7240710	20180130	OMIM			
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:9004716	Vesicoureteral Reflux 3		ISO	RGD:1313358	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SOX17-related condition | ClinVar Annotator: match by term: VESICOURETERAL REFLUX 3 | ClinVar Annotator: match by term: Vesicoureteral reflux 3	PMID:25741868|PMID:28492532|PMID:30029678
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced		ISO	RGD:1313359	D	RGD:9068941	20230615	RGD		protein:decreased expression:pulmonary artery endothelium (mouse)	PMID:36919784|REF_RGD_ID:329853737
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced	exacerbates	ISO	RGD:1313359	D	RGD:9068941	20230615	RGD			PMID:36205124|PMID:36913491|PMID:37066790|REF_RGD_ID:329853316|REF_RGD_ID:329853317|REF_RGD_ID:329853734
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:9007337	Teratogenesis		ISO	RGD:1313358	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24154490
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1313358	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18413743
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:9009354	primary pulmonary hypertension 7		ISO	RGD:1313358	D	RGD:7240710	20250730	OMIM			
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:9009354	primary pulmonary hypertension 7		ISO	RGD:1313358	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PRIMARY PULMONARY HYPERTENSION 7 | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 7	PMID:25741868
10211058	Sox17	SRY-box transcription factor 17	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1313358	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:25741868
10212720	Haus8	HAUS augmin like complex subunit 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10212720	Haus8	HAUS augmin like complex subunit 8	gene	DOID:1909	melanoma		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
10212720	Haus8	HAUS augmin like complex subunit 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
10212720	Haus8	HAUS augmin like complex subunit 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
10212720	Haus8	HAUS augmin like complex subunit 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1604254	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
10212720	Haus8	HAUS augmin like complex subunit 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10212720	Haus8	HAUS augmin like complex subunit 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10212720	Haus8	HAUS augmin like complex subunit 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10212720	Haus8	HAUS augmin like complex subunit 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10215893	Nipsnap1	nipsnap homolog 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
10215893	Nipsnap1	nipsnap homolog 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321311	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10215893	Nipsnap1	nipsnap homolog 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
10215893	Nipsnap1	nipsnap homolog 1	gene	DOID:1909	melanoma		ISO	RGD:1321311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
10215893	Nipsnap1	nipsnap homolog 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
10215893	Nipsnap1	nipsnap homolog 1	gene	DOID:3275	thymoma		ISO	RGD:1321311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
10215893	Nipsnap1	nipsnap homolog 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10215893	Nipsnap1	nipsnap homolog 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10215893	Nipsnap1	nipsnap homolog 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10215893	Nipsnap1	nipsnap homolog 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10215893	Nipsnap1	nipsnap homolog 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
10218927	Rcvrn	recoverin	gene	DOID:3275	thymoma		ISO	RGD:734065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
10218927	Rcvrn	recoverin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10222039	Ncr3	natural cytotoxicity triggering receptor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
10222039	Ncr3	natural cytotoxicity triggering receptor 3	gene	DOID:0080600	COVID-19		ISO	RGD:1353948	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
10222039	Ncr3	natural cytotoxicity triggering receptor 3	gene	DOID:12365	malaria		ISO	RGD:1353948	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MALARIA, MILD, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Malaria, severe, susceptibility to | ClinVar Annotator: match by term: NCR3-related condition	
10222039	Ncr3	natural cytotoxicity triggering receptor 3	gene	DOID:12365	malaria	susceptibility	ISO	RGD:1353948	D	RGD:7240710	20190502	OMIM			
10222039	Ncr3	natural cytotoxicity triggering receptor 3	gene	DOID:1883	hepatitis C	disease_progression	ISO	RGD:1353948	D	RGD:9068941	20201112	RGD		protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)	PMID:17553896|REF_RGD_ID:40400745
10222039	Ncr3	natural cytotoxicity triggering receptor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10222039	Ncr3	natural cytotoxicity triggering receptor 3	gene	DOID:635	acquired immunodeficiency syndrome		ISO	RGD:1353948	D	RGD:9068941	20201117	RGD		protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human)	PMID:27382604|REF_RGD_ID:40818276
10222039	Ncr3	natural cytotoxicity triggering receptor 3	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1353948	D	RGD:9068941	20201112	RGD		protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)	PMID:20550548|REF_RGD_ID:40818079
10222039	Ncr3	natural cytotoxicity triggering receptor 3	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1353948	D	RGD:9068941	20201118	RGD		protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)	PMID:23813131|REF_RGD_ID:40818297
10222039	Ncr3	natural cytotoxicity triggering receptor 3	gene	DOID:9004017	Chronic Hepatitis C	disease_progression	ISO	RGD:1353948	D	RGD:9068941	20201106	RGD		protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)	PMID:21168454|REF_RGD_ID:40400738
10222039	Ncr3	natural cytotoxicity triggering receptor 3	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:1353948	D	RGD:9068941	20201118	RGD			PMID:16322112|PMID:21695691|REF_RGD_ID:40818295|REF_RGD_ID:40818296
10225368	Klk1	kallikrein 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1349866	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:15117887|REF_RGD_ID:1641802
10225368	Klk1	kallikrein 1	gene	DOID:10763	hypertension		ISO	RGD:1349866	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:14568997
10225368	Klk1	kallikrein 1	gene	DOID:10763	hypertension		ISO	RGD:1349866	D	RGD:9068941	20200609	RGD			PMID:17272402|REF_RGD_ID:1641794
10225368	Klk1	kallikrein 1	gene	DOID:10763	hypertension		ISO	RGD:2969	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney	PMID:15809361|REF_RGD_ID:1358144
10225368	Klk1	kallikrein 1	gene	DOID:10763	hypertension	no_association	ISO	RGD:1349866	D	RGD:9068941	20200609	RGD			PMID:15167446|REF_RGD_ID:1581751
10225368	Klk1	kallikrein 1	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:1349866	D	RGD:9068941	20200609	RGD		DNA:polymorphisms	PMID:15905889|REF_RGD_ID:1641795
10225368	Klk1	kallikrein 1	gene	DOID:3021	acute kidney failure		ISO	RGD:1349866	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18227104
10225368	Klk1	kallikrein 1	gene	DOID:3275	thymoma		ISO	RGD:1349866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
10225368	Klk1	kallikrein 1	gene	DOID:4989	pancreatitis		ISO	RGD:2969	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:12770935|REF_RGD_ID:1641805
10225368	Klk1	kallikrein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349866	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
10225368	Klk1	kallikrein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10225368	Klk1	kallikrein 1	gene	DOID:5844	myocardial infarction		ISO	RGD:1349866	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12411458
10225368	Klk1	kallikrein 1	gene	DOID:5844	myocardial infarction		ISO	RGD:1349866	D	RGD:9068941	20200609	RGD			PMID:17022964|REF_RGD_ID:1641799
10225368	Klk1	kallikrein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
10225368	Klk1	kallikrein 1	gene	DOID:783	end stage renal disease		ISO	RGD:1349866	D	RGD:9068941	20200609	RGD			PMID:11849458|REF_RGD_ID:1581753
10225368	Klk1	kallikrein 1	gene	DOID:784	chronic kidney disease	susceptibility	ISO	RGD:1349866	D	RGD:9068941	20200609	RGD		associated with Vesico-Ureteral Reflux	PMID:15086490|REF_RGD_ID:1581752
10225368	Klk1	kallikrein 1	gene	DOID:9000784	Fibrosis		ISO	RGD:1349866	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18227104
10225368	Klk1	kallikrein 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1349866	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19516248
10225368	Klk1	kallikrein 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1349866	D	RGD:9068941	20200609	RGD			PMID:17272402|REF_RGD_ID:1641794
10225368	Klk1	kallikrein 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1349866	D	RGD:9068941	20200609	RGD			PMID:17137568|REF_RGD_ID:1641797
10225368	Klk1	kallikrein 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2969	D	RGD:9068941	20200609	RGD			PMID:12746231|REF_RGD_ID:1641806
10225368	Klk1	kallikrein 1	gene	DOID:9004915	Decreased Urinary Activity of Kallikrein		ISO	RGD:1349866	D	RGD:7240710	20180130	OMIM			
10225368	Klk1	kallikrein 1	gene	DOID:9004915	Decreased Urinary Activity of Kallikrein		ISO	RGD:1349866	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KALLIKREIN, DECREASED URINARY ACTIVITY OF	
10225368	Klk1	kallikrein 1	gene	DOID:9005372	Inflammation		ISO	RGD:2969	D	RGD:9068941	20200609	RGD			PMID:17015177|REF_RGD_ID:1641800
10225368	Klk1	kallikrein 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2969	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:myocardium	PMID:10604522|REF_RGD_ID:1641812
10225368	Klk1	kallikrein 1	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:1349866	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16129698
10225368	Klk1	kallikrein 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1349866	D	RGD:9068941	20200609	RGD			PMID:17272402|REF_RGD_ID:1641794
10228599	Pdcd7	programmed cell death 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319039	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
10228599	Pdcd7	programmed cell death 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319039	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10228599	Pdcd7	programmed cell death 7	gene	DOID:0060058	lymphoma		ISO	RGD:1319039	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
10228599	Pdcd7	programmed cell death 7	gene	DOID:10534	stomach cancer		ISO	RGD:1319039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10228599	Pdcd7	programmed cell death 7	gene	DOID:1115	sarcoma		ISO	RGD:1319039	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
10228599	Pdcd7	programmed cell death 7	gene	DOID:1324	lung cancer		ISO	RGD:1319039	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
10228599	Pdcd7	programmed cell death 7	gene	DOID:1909	melanoma		ISO	RGD:1319039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
10228599	Pdcd7	programmed cell death 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
10228599	Pdcd7	programmed cell death 7	gene	DOID:3275	thymoma		ISO	RGD:1319039	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
10228599	Pdcd7	programmed cell death 7	gene	DOID:4362	cervical cancer		ISO	RGD:1319039	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10228599	Pdcd7	programmed cell death 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
10228599	Pdcd7	programmed cell death 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319039	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
10228599	Pdcd7	programmed cell death 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1319039	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Esophageal cancer	
10228599	Pdcd7	programmed cell death 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10228599	Pdcd7	programmed cell death 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319039	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
10228599	Pdcd7	programmed cell death 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10228599	Pdcd7	programmed cell death 7	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1319039	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
10228599	Pdcd7	programmed cell death 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319039	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
10230964	CUNH19orf84	chromosome unknown C19orf84 homolog	gene	DOID:0080600	COVID-19		ISO	RGD:7778770	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
10235799	Ntng2	netrin G2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
10235799	Ntng2	netrin G2	gene	DOID:1115	sarcoma		ISO	RGD:1316073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
10235799	Ntng2	netrin G2	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:1316073	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type	PMID:28492532
10235799	Ntng2	netrin G2	gene	DOID:3312	bipolar disorder		ISO	RGD:1316073	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17507910
10235799	Ntng2	netrin G2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316073	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
10235799	Ntng2	netrin G2	gene	DOID:5419	schizophrenia		ISO	RGD:1316073	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17507910
10235799	Ntng2	netrin G2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10235799	Ntng2	netrin G2	gene	DOID:630	genetic disease		ISO	RGD:1316073	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
10235799	Ntng2	netrin G2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
10235799	Ntng2	netrin G2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316073	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:31668703
10235799	Ntng2	netrin G2	gene	DOID:9006418	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA		ISO	RGD:1316073	D	RGD:7240710	20200115	OMIM			
10235799	Ntng2	netrin G2	gene	DOID:9006418	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA		ISO	RGD:1316073	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA | ClinVar Annotator: match by term: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia	PMID:25741868
10235799	Ntng2	netrin G2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1316073	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
10235799	Ntng2	netrin G2	gene	DOID:9009239	Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay		ISO	RGD:1316073	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay	PMID:25741868
10235799	Ntng2	netrin G2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
10251142	Ndufc1	NADH:ubiquinone oxidoreductase subunit C1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
10251142	Ndufc1	NADH:ubiquinone oxidoreductase subunit C1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10251142	Ndufc1	NADH:ubiquinone oxidoreductase subunit C1	gene	DOID:10534	stomach cancer		ISO	RGD:1353150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10251142	Ndufc1	NADH:ubiquinone oxidoreductase subunit C1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10251142	Ndufc1	NADH:ubiquinone oxidoreductase subunit C1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
10251142	Ndufc1	NADH:ubiquinone oxidoreductase subunit C1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10254371	Apoc4	apolipoprotein C4	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:736043	D	RGD:9068941	20220908	RGD		associated with hepatitis B;	PMID:31211449|REF_RGD_ID:153350082
10254376	Shisa7	shisa family member 7	gene	DOID:4362	cervical cancer		ISO	RGD:3160565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10254376	Shisa7	shisa family member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3160565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10254376	Shisa7	shisa family member 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:3160565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10256792	Polr2l	RNA polymerase II, I and III subunit L	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10262063	Zcchc10	zinc finger CCHC-type containing 10	gene	DOID:10534	stomach cancer		ISO	RGD:1317755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10262063	Zcchc10	zinc finger CCHC-type containing 10	gene	DOID:1324	lung cancer		ISO	RGD:1317755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
10262063	Zcchc10	zinc finger CCHC-type containing 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10262063	Zcchc10	zinc finger CCHC-type containing 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10262063	Zcchc10	zinc finger CCHC-type containing 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
10265533	Prima1	proline rich membrane anchor 1	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:1315672	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Familial sleep-related hypermotor epilepsy	PMID:17576681|PMID:25741868|PMID:26339676|PMID:26467025|PMID:28492532|PMID:9536098
10265533	Prima1	proline rich membrane anchor 1	gene	DOID:1909	melanoma		ISO	RGD:1315672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
10265533	Prima1	proline rich membrane anchor 1	gene	DOID:3275	thymoma		ISO	RGD:1315672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
10265533	Prima1	proline rich membrane anchor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10265533	Prima1	proline rich membrane anchor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10265533	Prima1	proline rich membrane anchor 1	gene	DOID:9884	muscular dystrophy		ISO	RGD:1315672	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22906800
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:0081206	autosomal recessive intellectual developmental disorder 41		ISO	RGD:1316083	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macrocephaly-developmental delay syndrome	PMID:25741868|PMID:37552066
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:10534	stomach cancer		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:1059	intellectual disability		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:37552066
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:10908	hydrocephalus		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:37552066
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:1115	sarcoma		ISO	RGD:1316083	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:12849	autistic disorder		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:37552066
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:1754	mitral valve stenosis		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral stenosis	PMID:25741868|PMID:37552066
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:1826	epilepsy		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:37552066
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:3227	tracheal stenosis		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tracheal stenosis	PMID:25741868|PMID:37552066
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:3275	thymoma		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:479	angiokeratoma		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angiokeratoma	PMID:25741868|PMID:37552066
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:535	sleep disorder		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:37552066
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:630	genetic disease		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:37552066
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:9003133	Hypertelorism		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:37552066
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:9003816	Macrocephaly		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:37552066
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:37552066
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:9005616	Micrognathism		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:37552066
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:9007402	Gliosis		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gliosis	PMID:25741868|PMID:37552066
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:37552066
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:9008606	Corneal Opacity		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corneal opacity	PMID:25741868|PMID:37552066
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
10265739	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:37552066
10266413	Zbtb38	zinc finger and BTB domain containing 38	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10266413	Zbtb38	zinc finger and BTB domain containing 38	gene	DOID:10534	stomach cancer		ISO	RGD:1603531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10266413	Zbtb38	zinc finger and BTB domain containing 38	gene	DOID:1115	sarcoma		ISO	RGD:1603531	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
10266430	Znf567	zinc finger protein 567	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10266430	Znf567	zinc finger protein 567	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
10266440	Spmip2	sperm microtubule inner protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1602179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
10266440	Spmip2	sperm microtubule inner protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602179	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
10266440	Spmip2	sperm microtubule inner protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
10269103	Znf713	zinc finger protein 713	gene	DOID:1909	melanoma		ISO	RGD:1605220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
10269103	Znf713	zinc finger protein 713	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10269103	Znf713	zinc finger protein 713	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10275255	Ankrd65	ankyrin repeat domain 65	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:5508531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10277301	Chst13	carbohydrate sulfotransferase 13	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1347829	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
10277301	Chst13	carbohydrate sulfotransferase 13	gene	DOID:0080600	COVID-19		ISO	RGD:1347829	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:0050475	Weill-Marchesani syndrome		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesodermal dysmorphodystrophy congenital | ClinVar Annotator: match by term: Weill-Marchesani syndrome	PMID:17576681|PMID:19656777|PMID:23218701|PMID:23378721|PMID:23401661|PMID:25741868|PMID:26425313|PMID:27293371|PMID:28492532|PMID:9536098
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:0050581	brachydactyly		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:0060249	scoliosis		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:0060305	megalocornea		ISO	RGD:68549	D	RGD:9068941	20230309	RGD		associated with glaucoma;DNA:missense mutation:CDS:p.C1438Y (human)	PMID:22025892|REF_RGD_ID:156451371
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:0061273	Weill-Marchesani syndrome 1		ISO	RGD:68549	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Weill-Marchesani syndrome 1	
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:0061275	Weill-Marchesani syndrome 3		ISO	RGD:68549	D	RGD:7240710	20180130	OMIM			
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:0061275	Weill-Marchesani syndrome 3		ISO	RGD:68549	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Weill-Marchesani syndrome 3	PMID:17576681|PMID:23401661|PMID:25741868|PMID:27409795|PMID:28492532|PMID:9536098
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:68549	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Primary open angle glaucoma	PMID:23401661|PMID:25741868|PMID:26425313|PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:11211	buphthalmos		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital glaucoma | ClinVar Annotator: match by term: Glaucoma, congenital	PMID:19361779|PMID:19656777|PMID:22025892|PMID:24033266|PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:11830	myopia		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:12930	dilated cardiomyopathy	treatment	ISO	RGD:68380	D	RGD:9068941	20230309	RGD			PMID:31512380|REF_RGD_ID:156431214
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:13641	exfoliation syndrome		ISO	RGD:68549	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Pseudoexfoliation glaucoma	PMID:23401661|PMID:25741868|PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:14199	posterior dislocation of lens		ISO	RGD:68550	D	RGD:9068941	20230309	RGD			PMID:24908666|REF_RGD_ID:156451375
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:14323	Marfan syndrome		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Marfan syndrome	PMID:19361779|PMID:19656777|PMID:22025892|PMID:22539340|PMID:28492532|PMID:36087940
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:1596	depressive disorder		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:1686	glaucoma		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	PMID:25741868|PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:2030	anxiety disorder		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:6000	congestive heart failure		ISO	RGD:68549	D	RGD:9068941	20230309	RGD		associated with dyspnea;protein:increased expression:plasma (human)	PMID:22587491|REF_RGD_ID:156451376
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:6000	congestive heart failure		ISO	RGD:68549	D	RGD:9068941	20230323	RGD		mRNA:increased expression:heart (human)	PMID:32478206|REF_RGD_ID:213230162
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:68549	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9000669	Ventricular Dysfunction, Right		ISO	RGD:68380	D	RGD:9068941	20230309	RGD		associated with Pulmonary Arterial Hypertension;mRNA:increased expression:heart right ventricle (rat)	PMID:30213070|REF_RGD_ID:156451373
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9001251	Microspherophakia		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microspherophakia	PMID:25741868|PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9001510	Funnel Chest		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9001733	Tinnitus		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:68550	D	RGD:9068941	20230309	RGD		mRNA:increased expression:heart (mouse)	PMID:29950403|REF_RGD_ID:156451654
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9003507	Premature Birth		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9003539	Hyperacusis		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9003580	Primary Congenital Glaucoma 3, D		ISO	RGD:68549	D	RGD:7240710	20180130	OMIM			
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9003580	Primary Congenital Glaucoma 3, D		ISO	RGD:68549	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLAUCOMA 3, PRIMARY CONGENITAL, D | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, D | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, d	PMID:10655546|PMID:17576681|PMID:19361779|PMID:19656777|PMID:21081970|PMID:22025892|PMID:23218701|PMID:23401661|PMID:25741868|PMID:27293371|PMID:27409795|PMID:28492532|PMID:9536098
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:68550	D	RGD:9068941	20230323	RGD		mRNA:increased expression:heart (mouse)	PMID:29510080|REF_RGD_ID:213230163
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9004201	Ectopia Lentis		ISO	RGD:68550	D	RGD:9068941	20230309	RGD			PMID:33039488|REF_RGD_ID:156431213
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9005077	Joint Instability		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9006438	Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma		ISO	RGD:68549	D	RGD:7240710	20180130	OMIM			
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9006438	Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma		ISO	RGD:68549	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA | ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	PMID:16199547|PMID:17576681|PMID:19361779|PMID:19656777|PMID:22025892|PMID:23401661|PMID:25741868|PMID:27409795|PMID:28492532|PMID:9536098
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:68549	D	RGD:9068941	20230309	RGD		mRNA:increased expression:myocardium (human)	PMID:17343875|REF_RGD_ID:156451374
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9007147	Glaucoma 3, Primary Infantile, B		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma 3, primary infantile, B | ClinVar Annotator: match by term: Primary congenital glaucoma type 3B	PMID:17576681|PMID:25741868|PMID:27409795|PMID:28492532|PMID:9536098
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:68550	D	RGD:9068941	20230323	RGD		mRNA:increased expression:heart (mouse)	PMID:31364721|REF_RGD_ID:213230159
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9007661	Dwarfism		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9007736	Vertigo		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9008421	Epistaxis		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
10278425	Ltbp2	latent transforming growth factor beta binding protein 2	gene	DOID:9834	hyperopia		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
10280215	Sycp3	synaptonemal complex protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10280215	Sycp3	synaptonemal complex protein 3	gene	DOID:0070176	spermatogenic failure 4		ISO	RGD:733070	D	RGD:7240710	20180130	OMIM			
10280215	Sycp3	synaptonemal complex protein 3	gene	DOID:0070176	spermatogenic failure 4		ISO	RGD:733070	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 4 | ClinVar Annotator: match by term: Spermatogenic failure 4	PMID:25741868
10280215	Sycp3	synaptonemal complex protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:733070	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10280215	Sycp3	synaptonemal complex protein 3	gene	DOID:12336	male infertility		ISO	RGD:733070	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Male infertility	
10280215	Sycp3	synaptonemal complex protein 3	gene	DOID:14227	azoospermia		ISO	RGD:11368	D	RGD:9068941	20221103	MouseDO		OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842	
10280215	Sycp3	synaptonemal complex protein 3	gene	DOID:14227	azoospermia		ISO	RGD:733070	D	RGD:9068941	20221103	CTD		CTD Direct Evidence: marker/mechanism	PMID:14643120
10280215	Sycp3	synaptonemal complex protein 3	gene	DOID:1909	melanoma		ISO	RGD:733070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
10280215	Sycp3	synaptonemal complex protein 3	gene	DOID:3275	thymoma		ISO	RGD:733070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
10280215	Sycp3	synaptonemal complex protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:733070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10280215	Sycp3	synaptonemal complex protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10280215	Sycp3	synaptonemal complex protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10280215	Sycp3	synaptonemal complex protein 3	gene	DOID:9007479	Habitual Abortions		ISO	RGD:733070	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19110213
10284711	Znf316	zinc finger protein 316	gene	DOID:4362	cervical cancer		ISO	RGD:1323214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10284711	Znf316	zinc finger protein 316	gene	DOID:5041	esophageal cancer		ISO	RGD:1323214	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
10284711	Znf316	zinc finger protein 316	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10284711	Znf316	zinc finger protein 316	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10284711	Znf316	zinc finger protein 316	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
10284711	Znf316	zinc finger protein 316	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
10285507	Alg14	ALG14 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:0080600	COVID-19		ISO	RGD:1604512	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
10285507	Alg14	ALG14 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:0081337	congenital myopathy		ISO	RGD:1604512	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:16199547|PMID:25741868|PMID:28492532
10285507	Alg14	ALG14 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:0110658	congenital myasthenic syndrome 15		ISO	RGD:1604512	D	RGD:7240710	20180130	OMIM			
10285507	Alg14	ALG14 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:0110658	congenital myasthenic syndrome 15		ISO	RGD:1604512	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 15 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 15 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 15, without tubular aggregates	PMID:16199547|PMID:17576681|PMID:23404334|PMID:25741868|PMID:28492532|PMID:32324286|PMID:34908252|PMID:9536098
10285507	Alg14	ALG14 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:10907	microcephaly		ISO	RGD:1604512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
10285507	Alg14	ALG14 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:1826	epilepsy		ISO	RGD:1604512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
10285507	Alg14	ALG14 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:1604512	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
10285507	Alg14	ALG14 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:630	genetic disease		ISO	RGD:1604512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
10285507	Alg14	ALG14 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:8488	polyhydramnios		ISO	RGD:1604512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
10285507	Alg14	ALG14 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9003980	Myopathy, Epilepsy, and Progressive Cerebral Atrophy		ISO	RGD:1604512	D	RGD:7240710	20201021	OMIM			
10285507	Alg14	ALG14 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9003980	Myopathy, Epilepsy, and Progressive Cerebral Atrophy		ISO	RGD:1604512	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY | ClinVar Annotator: match by term: Myopathy, epilepsy, and progressive cerebral atrophy	PMID:23404334|PMID:25741868|PMID:28492532|PMID:28733338|PMID:33751823|PMID:34908252
10285507	Alg14	ALG14 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
10285507	Alg14	ALG14 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
10287539	Il17d	interleukin 17D	gene	DOID:0081312	T-cell non-Hodgkin lymphoma	severity	ISO	RGD:1558575	D	RGD:9068941	20210108	RGD			PMID:31244826|REF_RGD_ID:40903065
10287539	Il17d	interleukin 17D	gene	DOID:11573	listeriosis	severity	ISO	RGD:1558575	D	RGD:9068941	20210108	RGD			PMID:31244826|REF_RGD_ID:40903065
10287539	Il17d	interleukin 17D	gene	DOID:1909	melanoma	severity	ISO	RGD:1558575	D	RGD:9068941	20210108	RGD			PMID:31244826|REF_RGD_ID:40903065
10287539	Il17d	interleukin 17D	gene	DOID:2280	hidradenitis suppurativa	sexual_dimorphism	ISO	RGD:1348652	D	RGD:9068941	20210625	RGD		mRNA:increased expression:apocrine gland (human)	PMID:32031713|REF_RGD_ID:40903066
10287539	Il17d	interleukin 17D	gene	DOID:526	human immunodeficiency virus infectious disease	severity	ISO	RGD:1348652	D	RGD:9068941	20210108	RGD		Protein:increased expression:blood plasma (human)	PMID:28592538|REF_RGD_ID:40903074
10287539	Il17d	interleukin 17D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10287539	Il17d	interleukin 17D	gene	DOID:9004017	Chronic Hepatitis C	severity	ISO	RGD:1348652	D	RGD:9068941	20210108	RGD		associated with human immunodeficiency virus infectious disease;mRNA:increased expression:blood plasma (human)	PMID:27875997|REF_RGD_ID:40903073
10287539	Il17d	interleukin 17D	gene	DOID:9004484	Sepsis	severity	ISO	RGD:1558575	D	RGD:9068941	20210108	RGD			PMID:31634237|REF_RGD_ID:40903064
10287539	Il17d	interleukin 17D	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:1348652	D	RGD:9068941	20210108	RGD		protein:increased expression:blood serum (human)	PMID:31634237|REF_RGD_ID:40903064
10287539	Il17d	interleukin 17D	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:1558575	D	RGD:9068941	20210108	RGD			PMID:31634237|REF_RGD_ID:40903064
10287539	Il17d	interleukin 17D	gene	DOID:9006262	Cytomegalovirus Infections	severity	ISO	RGD:1558575	D	RGD:9068941	20210108	RGD			PMID:30209334|REF_RGD_ID:40903063
10288224	Znf41	zinc finger protein 41	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
10288224	Znf41	zinc finger protein 41	gene	DOID:1561	cognitive disorder		ISO	RGD:1346984	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14628291
10288224	Znf41	zinc finger protein 41	gene	DOID:4362	cervical cancer		ISO	RGD:1346984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10288224	Znf41	zinc finger protein 41	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346984	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
10288224	Znf41	zinc finger protein 41	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1346984	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14628291
10288224	Znf41	zinc finger protein 41	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10288224	Znf41	zinc finger protein 41	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346984	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
10289125	Tspan18	tetraspanin 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10289125	Tspan18	tetraspanin 18	gene	DOID:1115	sarcoma		ISO	RGD:1605907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
10289125	Tspan18	tetraspanin 18	gene	DOID:1324	lung cancer		ISO	RGD:1605907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
10289125	Tspan18	tetraspanin 18	gene	DOID:1909	melanoma		ISO	RGD:1605907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
10289125	Tspan18	tetraspanin 18	gene	DOID:4362	cervical cancer		ISO	RGD:1605907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10289125	Tspan18	tetraspanin 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1605907	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
10289125	Tspan18	tetraspanin 18	gene	DOID:5419	schizophrenia		ISO	RGD:1605907	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22037552
10289125	Tspan18	tetraspanin 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10289125	Tspan18	tetraspanin 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10289125	Tspan18	tetraspanin 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10291915	Defb134	defensin beta 134	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:2302256	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:32748548
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868|PMID:38387458
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:0060046	aphasia		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aphasia	PMID:25741868|PMID:38387458
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:0060249	scoliosis		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:38387458
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:1059	intellectual disability		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: intellectual disability	PMID:25741868|PMID:38387458
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:10907	microcephaly		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:38387458
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:38387458
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:1115	sarcoma		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:11830	myopia		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:38387458
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868|PMID:38387458
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:1826	epilepsy		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:38387458
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:2841	asthma		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:38387458
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:3275	thymoma		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:4362	cervical cancer		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:4667	kyphosis		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:25741868|PMID:38387458
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:5041	esophageal cancer		ISO	RGD:1605273	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605273	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:9000837	Esophageal Stenosis		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophageal stricture	PMID:25741868|PMID:38387458
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605273	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:38387458
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:9007892	Tics		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tics	PMID:25741868|PMID:38387458
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:9007917	Supernumerary Tooth		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Teeth, supernumerary	PMID:25741868|PMID:38387458
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:38387458
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
10297441	Dennd5b	DENN domain containing 5B	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:38387458
10299366	Znf398	zinc finger protein 398	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
10299366	Znf398	zinc finger protein 398	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10300641	Fads1	fatty acid desaturase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1344024	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
10300641	Fads1	fatty acid desaturase 1	gene	DOID:10763	hypertension		ISO	RGD:621678	D	RGD:9068941	20200609	RGD			PMID:12144877|REF_RGD_ID:1625415
10300641	Fads1	fatty acid desaturase 1	gene	DOID:1115	sarcoma		ISO	RGD:1344024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
10300641	Fads1	fatty acid desaturase 1	gene	DOID:1909	melanoma		ISO	RGD:1344024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
10300641	Fads1	fatty acid desaturase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10300641	Fads1	fatty acid desaturase 1	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:621678	D	RGD:9068941	20231214	RGD			PMID:22796714|REF_RGD_ID:401901592
10300641	Fads1	fatty acid desaturase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1344024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
10300641	Fads1	fatty acid desaturase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
10300641	Fads1	fatty acid desaturase 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1344024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
10300641	Fads1	fatty acid desaturase 1	gene	DOID:9003139	Cardiac Fibrosis	treatment	ISO	RGD:621678	D	RGD:9068941	20231214	RGD			PMID:22796714|REF_RGD_ID:401901592
10300641	Fads1	fatty acid desaturase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:621678	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:16099631|REF_RGD_ID:1625413
10300641	Fads1	fatty acid desaturase 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1344024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
10300641	Fads1	fatty acid desaturase 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1344024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24836286
10300641	Fads1	fatty acid desaturase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10300641	Fads1	fatty acid desaturase 1	gene	DOID:9970	obesity		ISO	RGD:621678	D	RGD:9068941	20200609	RGD		protein:decreased expression:microsomes, liver	PMID:8446010|REF_RGD_ID:1625421
10304093	Svip	small VCP interacting protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2306136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
10304093	Svip	small VCP interacting protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2306136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
10308184	Fbn3	fibrillin 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
10308184	Fbn3	fibrillin 3	gene	DOID:0050475	Weill-Marchesani syndrome		ISO	RGD:1350241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weill-Marchesani syndrome	PMID:25741868
10308184	Fbn3	fibrillin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10308184	Fbn3	fibrillin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1350241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10308184	Fbn3	fibrillin 3	gene	DOID:1324	lung cancer		ISO	RGD:1350241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
10308184	Fbn3	fibrillin 3	gene	DOID:1909	melanoma		ISO	RGD:1350241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
10308184	Fbn3	fibrillin 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
10308184	Fbn3	fibrillin 3	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1350241	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
10308184	Fbn3	fibrillin 3	gene	DOID:3275	thymoma		ISO	RGD:1350241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
10308184	Fbn3	fibrillin 3	gene	DOID:4362	cervical cancer		ISO	RGD:1350241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10308184	Fbn3	fibrillin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1350241	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
10308184	Fbn3	fibrillin 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
10308184	Fbn3	fibrillin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:28492532|PMID:9536098
10308184	Fbn3	fibrillin 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
10308184	Fbn3	fibrillin 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10308184	Fbn3	fibrillin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10308184	Fbn3	fibrillin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10308184	Fbn3	fibrillin 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
10308939	Rsc1a1	regulator of solute carriers 1	gene	DOID:9970	obesity		ISO	RGD:1615861	D	RGD:9068941	20220825	MouseDO		OMIM:601665	
10309212	Abhd16b	abhydrolase domain containing 16B	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1320221	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
10312353	Gng5	G protein subunit gamma 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10312353	Gng5	G protein subunit gamma 5	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737441	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
10312353	Gng5	G protein subunit gamma 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10314245	H6pd	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
10314245	H6pd	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	gene	DOID:0090139	cortisone reductase deficiency		ISO	RGD:1315252	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
10314245	H6pd	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	gene	DOID:0090139	cortisone reductase deficiency		ISO	RGD:1315252	D	RGD:9068941	20200609	RGD		DNA:point mutation:CDS:p.R453Q (human)	PMID:12858176|REF_RGD_ID:1625067
10314245	H6pd	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	gene	DOID:0090141	cortisone reductase deficiency 1		ISO	RGD:1315252	D	RGD:7240710	20180802	OMIM			
10314245	H6pd	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	gene	DOID:0090141	cortisone reductase deficiency 1		ISO	RGD:1315252	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORTISONE REDUCTASE DEFICIENCY 1 | ClinVar Annotator: match by term: Cortisone reductase deficiency 1 | ClinVar Annotator: match by term: H6PD-related condition	PMID:16356929|PMID:18628520|PMID:25741868|PMID:28492532
10314245	H6pd	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	gene	DOID:10534	stomach cancer		ISO	RGD:1315252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10314245	H6pd	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	gene	DOID:2377	multiple sclerosis		ISO	RGD:1315252	D	RGD:9068941	20200609	RGD		DNA:SNP:exon: rs17368528 (human)	PMID:19935835|REF_RGD_ID:6784513
10314245	H6pd	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	gene	DOID:3070	high grade glioma		ISO	RGD:1315252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
10314245	H6pd	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	gene	DOID:3275	thymoma		ISO	RGD:1315252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
10314245	H6pd	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	gene	DOID:4362	cervical cancer		ISO	RGD:1315252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10314245	H6pd	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10314245	H6pd	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	gene	DOID:630	genetic disease		ISO	RGD:1315252	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
10314245	H6pd	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1306562	D	RGD:9068941	20200609	RGD			PMID:20923496|REF_RGD_ID:6784507
10314245	H6pd	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10314245	H6pd	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1315252	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29295867
10314245	H6pd	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10314245	H6pd	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
10316752	Tmsb4x	thymosin beta 4 X-linked	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10316752	Tmsb4x	thymosin beta 4 X-linked	gene	DOID:0060058	lymphoma		ISO	RGD:736781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
10316752	Tmsb4x	thymosin beta 4 X-linked	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:736781	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
10316752	Tmsb4x	thymosin beta 4 X-linked	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:736781	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532
10316752	Tmsb4x	thymosin beta 4 X-linked	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
10316752	Tmsb4x	thymosin beta 4 X-linked	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:736781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
10316752	Tmsb4x	thymosin beta 4 X-linked	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10316752	Tmsb4x	thymosin beta 4 X-linked	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736781	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17916567
10316752	Tmsb4x	thymosin beta 4 X-linked	gene	DOID:9003566	Mesothelioma		ISO	RGD:736781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
10316752	Tmsb4x	thymosin beta 4 X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10316752	Tmsb4x	thymosin beta 4 X-linked	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
10317829	Ska2	spindle and kinetochore associated complex subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
10317829	Ska2	spindle and kinetochore associated complex subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1316064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
10317829	Ska2	spindle and kinetochore associated complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10317829	Ska2	spindle and kinetochore associated complex subunit 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1316064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
10317829	Ska2	spindle and kinetochore associated complex subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10317829	Ska2	spindle and kinetochore associated complex subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10320437	Fam171a2	family with sequence similarity 171 member A2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2298821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10320437	Fam171a2	family with sequence similarity 171 member A2	gene	DOID:1115	sarcoma		ISO	RGD:2298821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
10320437	Fam171a2	family with sequence similarity 171 member A2	gene	DOID:3275	thymoma		ISO	RGD:2298821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
10320437	Fam171a2	family with sequence similarity 171 member A2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:2298821	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5	PMID:38922859
10320437	Fam171a2	family with sequence similarity 171 member A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2298821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:0060058	lymphoma		ISO	RGD:1319855	D	RGD:9068941	20200609	RGD			PMID:15231650|REF_RGD_ID:1581305
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:0070042	Coffin-Siris syndrome 1		ISO	RGD:1319854	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome 1	PMID:25741868
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1319854	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:0112371	Coffin-Siris syndrome 10		ISO	RGD:1319854	D	RGD:7240710	20190731	OMIM			
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:0112371	Coffin-Siris syndrome 10		ISO	RGD:1319854	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome 10 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: SOX4-related condition	PMID:25741868|PMID:28492532|PMID:30661772|PMID:35232796|PMID:35887114|PMID:36307859|PMID:36834931
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:1059	intellectual disability		ISO	RGD:1319854	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:30661772
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319854	D	RGD:9068941	20200609	RGD			PMID:16585165|REF_RGD_ID:1581304
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:114	heart disease		ISO	RGD:1319855	D	RGD:9068941	20200609	RGD			PMID:9815146|REF_RGD_ID:1581306
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:1923	disorder of sexual development		ISO	RGD:1319854	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Disorder of sexual differentiation	
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1319854	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:3459	breast carcinoma		ISO	RGD:1319854	D	RGD:9068941	20220728	RGD		protein:increased expression:breast	PMID:29882245|REF_RGD_ID:153297792
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1319854	D	RGD:9068941	20220728	RGD			PMID:16052521|REF_RGD_ID:153297793
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1319854	D	RGD:9068941	20220728	RGD		protein:increased expression:lung	PMID:29882245|REF_RGD_ID:153297792
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:6000	congestive heart failure		ISO	RGD:1319854	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:630	genetic disease		ISO	RGD:1319854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:30661772|PMID:35232796
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:9001041	Asphyxia		ISO	RGD:1309488	D	RGD:9068941	20200609	RGD			PMID:12011571|REF_RGD_ID:1581119
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1319854	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1319854	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21147764
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1319854	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1319854	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319854	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
10322056	Sox4	SRY-box transcription factor 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319854	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
10323072	Ct55	cancer/testis antigen 55	gene	DOID:0070598	X-linked spermatogenic failure 7		ISO	RGD:1353544	D	RGD:7240710	20230505	OMIM			
10323072	Ct55	cancer/testis antigen 55	gene	DOID:0070598	X-linked spermatogenic failure 7		ISO	RGD:1353544	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 7	
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:0050781	Ogden syndrome		ISO	RGD:1349422	D	RGD:7240710	20180130	OMIM			
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:0050781	Ogden syndrome		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: N-terminal acetyltransferase deficiency | ClinVar Annotator: match by term: OGDEN SYNDROME | ClinVar Annotator: match by term: Ogden syndrome	PMID:18414213|PMID:24431331|PMID:25099252|PMID:25741868|PMID:26522270|PMID:26757139|PMID:27094817|PMID:28492532|PMID:29095811|PMID:29957440|PMID:31127942|PMID:31785789|PMID:35039925|PMID:36810866|PMID:37130971|PMID:39012200|PMID:39825153
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:0060165	Kleine-Levin syndrome		ISO	RGD:1349422	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Kleine-Levin syndrome	
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:0060307	autosomal dominant intellectual developmental disorder		ISO	RGD:1349422	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant	
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:0111799	syndromic microphthalmia 1		ISO	RGD:1349422	D	RGD:7240710	20180130	OMIM			
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:0111799	syndromic microphthalmia 1		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ANOP1 | ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 1 | ClinVar Annotator: match by term: Microphthalmia, syndromic 1 | ClinVar Annotator: match by term: NAA10-related condition	PMID:25099252|PMID:25741868|PMID:27094817|PMID:28492532|PMID:29957440|PMID:31127942|PMID:37130971|PMID:39012200
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Severe intellectual disability	PMID:24033266|PMID:25099252|PMID:25741868|PMID:27094817|PMID:28492532|PMID:29957440|PMID:31088393|PMID:31174490|PMID:37130971
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:10608	celiac disease		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Celiac disease	PMID:25099252|PMID:25741868|PMID:28492532|PMID:29957440|PMID:37130971
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:10629	microphthalmia		ISO	RGD:1349422	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25741868
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:10907	microcephaly		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25099252|PMID:25741868|PMID:28492532|PMID:29957440|PMID:35039925|PMID:37130971
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:27094817|PMID:28492532|PMID:31088393|PMID:31174490
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:11782	astigmatism		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:28492532|PMID:36810866
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:11830	myopia		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532|PMID:36810866
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532|PMID:36810866
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:12849	autistic disorder		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:35039925
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:2843	long QT syndrome		ISO	RGD:1349422	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Prolonged QT interval	PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1349422	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:4448	macular degeneration		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	PMID:25741868|PMID:28492532|PMID:36810866
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:535	sleep disorder		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disorder	PMID:25741868|PMID:27094817|PMID:28492532|PMID:31088393|PMID:31174490
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:540	strabismus		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:27094817|PMID:28492532|PMID:31088393|PMID:31174490
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:25741868
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:630	genetic disease		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31127942|PMID:36810866|PMID:37130971|PMID:39012200
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25099252|PMID:25741868|PMID:28492532|PMID:29957440|PMID:37130971
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9004507	Hirsutism		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9005077	Joint Instability		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:35039925
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349422	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25099252|PMID:25741868|PMID:27094817|PMID:28492532|PMID:29957440
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25099252|PMID:25741868|PMID:28492532|PMID:29957440|PMID:37130971
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1349422	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532|PMID:36810866
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9007402	Gliosis		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gliosis	PMID:25099252|PMID:25741868|PMID:28492532|PMID:29957440|PMID:37130971
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9007573	Flatfoot		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:35039925|PMID:36810866
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10329823	Naa10	N-alpha-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
10332444	Taf9	TATA-box binding protein associated factor 9	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1314621	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
10332758	Lsm11	LSM11, U7 small nuclear RNA associated	gene	DOID:1324	lung cancer		ISO	RGD:1354131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
10332758	Lsm11	LSM11, U7 small nuclear RNA associated	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
10332758	Lsm11	LSM11, U7 small nuclear RNA associated	gene	DOID:2394	ovarian cancer		ISO	RGD:1354131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
10332758	Lsm11	LSM11, U7 small nuclear RNA associated	gene	DOID:9001117	Aicardi-Goutieres Syndrome 8		ISO	RGD:1354131	D	RGD:7240710	20210825	OMIM			
10332758	Lsm11	LSM11, U7 small nuclear RNA associated	gene	DOID:9001117	Aicardi-Goutieres Syndrome 8		ISO	RGD:1354131	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 | ClinVar Annotator: match by term: LSM11-related condition	
10332758	Lsm11	LSM11, U7 small nuclear RNA associated	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10335251	Tlr9	toll like receptor 9	gene	DOID:0050127	sinusitis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		Acute Sinusitis; protein:decreased expression:nasal mucosa, epithelial cell (human)	PMID:18416964|REF_RGD_ID:5130708
10335251	Tlr9	toll like receptor 9	gene	DOID:0050127	sinusitis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		Chronic Sinusitis; protein:decreased expression:nasal mucosa, epithelial cell (human)	PMID:17283572|REF_RGD_ID:5130870
10335251	Tlr9	toll like receptor 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
10335251	Tlr9	toll like receptor 9	gene	DOID:0080158	herpes simplex virus keratitis		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:17686871|REF_RGD_ID:7794851
10335251	Tlr9	toll like receptor 9	gene	DOID:0080162	lupus nephritis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:snps:intron, exon:g.+1174G>A, g.+1635C>T (rs352139, rs352140) (human, Chinese)	PMID:20497632|REF_RGD_ID:7246884
10335251	Tlr9	toll like receptor 9	gene	DOID:0080162	lupus nephritis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:increased expression:renal glomerulus (human)	PMID:19578108|REF_RGD_ID:7246896
10335251	Tlr9	toll like receptor 9	gene	DOID:0080162	lupus nephritis		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:23467932|REF_RGD_ID:7245987
10335251	Tlr9	toll like receptor 9	gene	DOID:0080162	lupus nephritis	no_association	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		associated with Lupus Erythematosus, Systemic; DNA:snps:promoter, intron:g.-1486T>C, g.+1174A>G (rs187084, rs352139) (human, North Indian)	PMID:22787315|REF_RGD_ID:7245989
10335251	Tlr9	toll like receptor 9	gene	DOID:0080162	lupus nephritis	severity	ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney (mouse)	PMID:17469139|REF_RGD_ID:7246911
10335251	Tlr9	toll like receptor 9	gene	DOID:0080162	lupus nephritis	treatment	ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		associated with Graft vs Host Disease	PMID:21127878|REF_RGD_ID:7246897
10335251	Tlr9	toll like receptor 9	gene	DOID:0080171	esophageal atresia/tracheoesophageal fistula		ISO	RGD:1346715	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula	PMID:32641753
10335251	Tlr9	toll like receptor 9	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human, mouse)	PMID:28687713|REF_RGD_ID:18337289
10335251	Tlr9	toll like receptor 9	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human, mouse)	PMID:28687713|REF_RGD_ID:18337289
10335251	Tlr9	toll like receptor 9	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	disease_progression	ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:serum, liver (mouse)	PMID:24650018|REF_RGD_ID:18337469
10335251	Tlr9	toll like receptor 9	gene	DOID:0080600	COVID-19		ISO	RGD:1346715	D	RGD:9068941	20260117	RGD		mRNA:increased expression:blood	PMID:33780352|REF_RGD_ID:630350570
10335251	Tlr9	toll like receptor 9	gene	DOID:0080998	acute necrotizing pancreatitis		ISO	RGD:631352	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:pancreas (rat)	PMID:18376319|REF_RGD_ID:5130184
10335251	Tlr9	toll like receptor 9	gene	DOID:10113	trypanosomiasis		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (mouse)	PMID:18565585|REF_RGD_ID:18337478
10335251	Tlr9	toll like receptor 9	gene	DOID:10223	dermatomyositis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:muscle	PMID:19953283|REF_RGD_ID:7794747
10335251	Tlr9	toll like receptor 9	gene	DOID:10457	Legionnaires' disease		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:18426877|REF_RGD_ID:5130707
10335251	Tlr9	toll like receptor 9	gene	DOID:10485	esophageal atresia		ISO	RGD:1346715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	PMID:32641753
10335251	Tlr9	toll like receptor 9	gene	DOID:10533	viral pneumonia		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:g.-1237T>C rs5743836 (human)	PMID:19539691|REF_RGD_ID:5130766
10335251	Tlr9	toll like receptor 9	gene	DOID:10690	mastitis	resistance	ISO	RGD:631352	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mammary gland (rat)	PMID:17321466|REF_RGD_ID:5130197
10335251	Tlr9	toll like receptor 9	gene	DOID:11166	Human papillomavirus infectious disease	resistance	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cervix epithelium (human)	PMID:20473890|REF_RGD_ID:5129102
10335251	Tlr9	toll like receptor 9	gene	DOID:11168	anogenital venereal wart		ISO	RGD:1346715	D	RGD:9068941	20201105	RGD		mRNA,protein:increased expression:multiple (human)	PMID:23754510|REF_RGD_ID:40400714
10335251	Tlr9	toll like receptor 9	gene	DOID:11204	allergic conjunctivitis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:conjunctiva:	PMID:16023216|REF_RGD_ID:7794849
10335251	Tlr9	toll like receptor 9	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:17925007|REF_RGD_ID:5130709
10335251	Tlr9	toll like receptor 9	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:increased expression:liver, peripheral blood mononuclear cell (human)	PMID:23026026|REF_RGD_ID:18337477
10335251	Tlr9	toll like receptor 9	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		associated with kidney transplant; DNA:snp:promoter:g.-1237C>T rs5743836 (human)	PMID:20604744|REF_RGD_ID:7246901
10335251	Tlr9	toll like receptor 9	gene	DOID:13139	crescentic glomerulonephritis	severity	ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:20847283|REF_RGD_ID:7246899
10335251	Tlr9	toll like receptor 9	gene	DOID:13166	allergic bronchopulmonary aspergillosis		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:18936185|REF_RGD_ID:5130858
10335251	Tlr9	toll like receptor 9	gene	DOID:13166	allergic bronchopulmonary aspergillosis	susceptibility	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:g.-1237T>C (rs5743836) (human)	PMID:18275280|REF_RGD_ID:5130863
10335251	Tlr9	toll like receptor 9	gene	DOID:13620	patent foramen ovale		ISO	RGD:1346715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:32641753
10335251	Tlr9	toll like receptor 9	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1346715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:32641753
10335251	Tlr9	toll like receptor 9	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, neutrophil	PMID:18433921|REF_RGD_ID:5130706
10335251	Tlr9	toll like receptor 9	gene	DOID:1485	cystic fibrosis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:snps:multiple (human)	PMID:20837493|REF_RGD_ID:5130208
10335251	Tlr9	toll like receptor 9	gene	DOID:1574	alcohol use disorder		ISO	RGD:1346715	D	RGD:9068941	20250125	RGD		mRNA:increased expression:orbitofrontal cortex	PMID:34415075|REF_RGD_ID:597538499
10335251	Tlr9	toll like receptor 9	gene	DOID:1612	breast cancer		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:increased expression:breast, epithelial cell (human)	PMID:18922969|REF_RGD_ID:7246913
10335251	Tlr9	toll like receptor 9	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		invasive squamous cell carcinoma of the cervix; mRNA:increased expression:tumor:significantly increased vs normal cervical tissue (p=0.012)	PMID:17440926|REF_RGD_ID:2301099
10335251	Tlr9	toll like receptor 9	gene	DOID:1883	hepatitis C		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		associated with psoriasis;mRNA:increased expession:skin (human)	PMID:27184185|REF_RGD_ID:18337479
10335251	Tlr9	toll like receptor 9	gene	DOID:1883	hepatitis C	susceptibility	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		associated with acquired immunodeficiency syndrome;DNA:SNP:exon: (rs352140) (human)	PMID:28062211|REF_RGD_ID:18337466
10335251	Tlr9	toll like receptor 9	gene	DOID:2043	hepatitis B	susceptibility	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:2848G>A (rs352140) (human)	PMID:25388852|REF_RGD_ID:18337480
10335251	Tlr9	toll like receptor 9	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter, 3' utr:g.-1485C>T (rs187084), rs352162 (human)	PMID:20227302|REF_RGD_ID:5130722
10335251	Tlr9	toll like receptor 9	gene	DOID:2841	asthma		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:20016192|REF_RGD_ID:5129104
10335251	Tlr9	toll like receptor 9	gene	DOID:2841	asthma	no_association	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:g.-1237T>C rs5743836 (human)	PMID:21324137|REF_RGD_ID:5130712
10335251	Tlr9	toll like receptor 9	gene	DOID:2841	asthma	severity	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood mononuclear cell (human)	PMID:20072849|REF_RGD_ID:4889523
10335251	Tlr9	toll like receptor 9	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:g.-1237T>C (rs5743836) (human)	PMID:18312481|REF_RGD_ID:4144208
10335251	Tlr9	toll like receptor 9	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		mRNA:increased expression:renal glomerulus (mouse)	PMID:18256364|REF_RGD_ID:7246909
10335251	Tlr9	toll like receptor 9	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:snps:multiple (human)	PMID:19771452|REF_RGD_ID:5130704
10335251	Tlr9	toll like receptor 9	gene	DOID:2957	pulmonary tuberculosis	sexual_dimorphism	ISO	RGD:1346715	D	RGD:9068941	20260115	RGD		DNA:SNP:intron:rs352139��	PMID:30529560|REF_RGD_ID:630350409
10335251	Tlr9	toll like receptor 9	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1346715	D	RGD:9068941	20260115	RGD		DNA:SNPs:promoter, intron:rs187084, rs352165, rs352167	PMID:37051380|REF_RGD_ID:630350413
10335251	Tlr9	toll like receptor 9	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		associated with Graft vs Host Disease; mRNA:increased expression:splenocyte (mouse)	PMID:21621468|REF_RGD_ID:7246893
10335251	Tlr9	toll like receptor 9	gene	DOID:2986	IgA glomerulonephritis	severity	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:SNPs:intron, exon:IVS4-44A>G, c.1635G>A (rs352139, rs352140) (human)	PMID:18776126|REF_RGD_ID:7246889
10335251	Tlr9	toll like receptor 9	gene	DOID:2986	IgA glomerulonephritis	severity	ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		DNA, mRNA:SNP, increased expression:exon, spleen:g.159C>G (mouse)	PMID:18776126|REF_RGD_ID:7246889
10335251	Tlr9	toll like receptor 9	gene	DOID:2986	IgA glomerulonephritis	treatment	ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		associated with Graft vs Host Disease	PMID:21621468|REF_RGD_ID:7246893
10335251	Tlr9	toll like receptor 9	gene	DOID:3021	acute kidney failure		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		associated with Sepsis	PMID:23548820|REF_RGD_ID:7245966
10335251	Tlr9	toll like receptor 9	gene	DOID:3082	interstitial lung disease		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung (human)	PMID:18633634|REF_RGD_ID:5130206
10335251	Tlr9	toll like receptor 9	gene	DOID:3265	chronic granulomatous disease		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood, neutrophil (human)	PMID:18155283|REF_RGD_ID:5130865
10335251	Tlr9	toll like receptor 9	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (human)	PMID:18633634|REF_RGD_ID:5130206
10335251	Tlr9	toll like receptor 9	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:tumor (human)	PMID:15631627|REF_RGD_ID:5130185
10335251	Tlr9	toll like receptor 9	gene	DOID:4450	renal cell carcinoma	severity	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:decreased expression:tumor, cytoplasm (human)	PMID:21929816|REF_RGD_ID:7246915
10335251	Tlr9	toll like receptor 9	gene	DOID:4481	allergic rhinitis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:decreased expression:nasal mucosa:	PMID:22577387|REF_RGD_ID:7800740
10335251	Tlr9	toll like receptor 9	gene	DOID:5199	ureteral obstruction		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney (mouse)	PMID:21544241|REF_RGD_ID:7246895
10335251	Tlr9	toll like receptor 9	gene	DOID:576	proteinuria		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		associated with Lupus Erythematosus, Systemic; DNA:snp:intron:g.1174A>G rs352139 (human)	PMID:22787315|REF_RGD_ID:7245989
10335251	Tlr9	toll like receptor 9	gene	DOID:576	proteinuria		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		associated with Lupus Erythematosus, Systemic	PMID:23467932|REF_RGD_ID:7245987
10335251	Tlr9	toll like receptor 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346715	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24990399
10335251	Tlr9	toll like receptor 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein: increased expression:peripheral blood mononuclear cell (human)	PMID:18215354|REF_RGD_ID:18337472
10335251	Tlr9	toll like receptor 9	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		human cells in a mouse model	PMID:24452201|REF_RGD_ID:18337468
10335251	Tlr9	toll like receptor 9	gene	DOID:784	chronic kidney disease	susceptibility	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter, exon:g.-1237T>C, g.1635G>A (rs5743836, rs352140) (human, Han Chinese)	PMID:21908957|REF_RGD_ID:7246887
10335251	Tlr9	toll like receptor 9	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:631352	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ileum (rat)	PMID:19608731|REF_RGD_ID:5128779
10335251	Tlr9	toll like receptor 9	gene	DOID:874	bacterial pneumonia		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:20360853|REF_RGD_ID:5130719
10335251	Tlr9	toll like receptor 9	gene	DOID:8778	Crohn's disease		ISO	RGD:1346715	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15236225|PMID:17914947
10335251	Tlr9	toll like receptor 9	gene	DOID:8991	cervix uteri carcinoma in situ	disease_progression	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:expression increases with the histopathological grade (p<0.001)	PMID:17440926|REF_RGD_ID:2301099
10335251	Tlr9	toll like receptor 9	gene	DOID:9000113	Pneumococcal Meningitis		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		mRNA:increased expression: :	PMID:12781911|REF_RGD_ID:7794740
10335251	Tlr9	toll like receptor 9	gene	DOID:9000989	Pneumococcal Infections		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:17004992|REF_RGD_ID:5130710
10335251	Tlr9	toll like receptor 9	gene	DOID:9000998	Brain Injuries		ISO	RGD:1346715	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21549006
10335251	Tlr9	toll like receptor 9	gene	DOID:9001004	Chronic Periodontitis	severity	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:increased expression:gingiva:	PMID:21848608|REF_RGD_ID:7794852
10335251	Tlr9	toll like receptor 9	gene	DOID:9001295	Achlorhydria		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:g.-1237T>C (rs5743836) (human)	PMID:20038537|REF_RGD_ID:5130741
10335251	Tlr9	toll like receptor 9	gene	DOID:9002287	Respiratory Tract Granuloma		ISO	RGD:1346715	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19797157
10335251	Tlr9	toll like receptor 9	gene	DOID:9002287	Respiratory Tract Granuloma		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:17853411|REF_RGD_ID:5130186
10335251	Tlr9	toll like receptor 9	gene	DOID:9002869	Schistosomiasis Mansoni		ISO	RGD:1346715	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19797157
10335251	Tlr9	toll like receptor 9	gene	DOID:9003036	Oral Lichen Planus		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:increased expression:oral epithelium:	PMID:22672741|REF_RGD_ID:7777153
10335251	Tlr9	toll like receptor 9	gene	DOID:9003615	Granuloma, Foreign-Body		ISO	RGD:1346715	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19797157
10335251	Tlr9	toll like receptor 9	gene	DOID:9003828	Klebsiella Infections		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:17785831|REF_RGD_ID:5130866
10335251	Tlr9	toll like receptor 9	gene	DOID:9003870	Herpes Simplex Encephalitis	resistance	ISO	RGD:631352	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cheek (rat)	PMID:20806060|REF_RGD_ID:5130178
10335251	Tlr9	toll like receptor 9	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:increased expression:liver, peripheral blood mononuclear cell (human)	PMID:23026026|REF_RGD_ID:18337477
10335251	Tlr9	toll like receptor 9	gene	DOID:9004017	Chronic Hepatitis C	severity	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:peripheral blood mononuclear cell (human)	PMID:19513613|REF_RGD_ID:18337470
10335251	Tlr9	toll like receptor 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
10335251	Tlr9	toll like receptor 9	gene	DOID:9004283	Transplant Rejection	susceptibility	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		kidney; DNA:snp:exon:g.+2848G>A rs352140 (human, North Indian)	PMID:22251233|REF_RGD_ID:7246885
10335251	Tlr9	toll like receptor 9	gene	DOID:9004538	Hearing Loss		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		associated with Meningitis,Bacterial; DNA:SNP: :-1237T>C(rs5743836)(human)	PMID:22662111|REF_RGD_ID:7800663
10335251	Tlr9	toll like receptor 9	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:tumor (human)	PMID:18763053|REF_RGD_ID:5130705
10335251	Tlr9	toll like receptor 9	gene	DOID:9005358	Hypergammaglobulinemia		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		associated with Lupus Erythematosus, Systemic	PMID:23467932|REF_RGD_ID:7245987
10335251	Tlr9	toll like receptor 9	gene	DOID:9005372	Inflammation		ISO	RGD:1346715	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19797157
10335251	Tlr9	toll like receptor 9	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:631352	D	RGD:9068941	20200609	RGD		mRNA:increased expression:multiple tissues	PMID:18434754|REF_RGD_ID:2312677
10335251	Tlr9	toll like receptor 9	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:1346715	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24273604
10335251	Tlr9	toll like receptor 9	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	severity	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:increased expression: blood, neutrophil (human)	PMID:26457748|REF_RGD_ID:18337465
10335251	Tlr9	toll like receptor 9	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:19164858|PMID:23509352|REF_RGD_ID:18337473|REF_RGD_ID:18337476
10335251	Tlr9	toll like receptor 9	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps		ISO	RGD:1346715	D	RGD:9068941	20260115	RGD		mRNA:increased expression:nasal cavity mucosa	PMID:26518209|REF_RGD_ID:630350565
10335251	Tlr9	toll like receptor 9	gene	DOID:9007661	Dwarfism		ISO	RGD:1346715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:32641753
10335251	Tlr9	toll like receptor 9	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:32641753
10335251	Tlr9	toll like receptor 9	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		mRNA, protein: decreased expression:liver, CD14-positive monocyte (human)	PMID:24622882|REF_RGD_ID:18337464
10335251	Tlr9	toll like receptor 9	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein: increased expression:peripheral blood mononuclear cell (human)	PMID:18215354|REF_RGD_ID:18337472
10335251	Tlr9	toll like receptor 9	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood mononuclear cell (human)	PMID:27126946|REF_RGD_ID:18337474
10335251	Tlr9	toll like receptor 9	gene	DOID:9008163	Chronic Hepatitis B	severity	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:SNPs: 5'UTR: (rs5743836, rs187084) (human)	PMID:30453064|REF_RGD_ID:18337467
10335251	Tlr9	toll like receptor 9	gene	DOID:9008163	Chronic Hepatitis B	severity	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:peripheral blood mononuclear cell (human)	PMID:19513613|REF_RGD_ID:18337470
10335251	Tlr9	toll like receptor 9	gene	DOID:9008691	Liver Injury	severity	ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		associated with Hemorrhagic Shock	PMID:20577143|REF_RGD_ID:18337475
10335251	Tlr9	toll like receptor 9	gene	DOID:9008691	Liver Injury	severity	ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		associated with Kidney Reperfusion Injury	PMID:26361210|REF_RGD_ID:18337471
10335251	Tlr9	toll like receptor 9	gene	DOID:9008765	Malarial Anemia	susceptibility	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:g.-1237T>C (rs5743836) (human)	PMID:23045477|REF_RGD_ID:11344971
10335251	Tlr9	toll like receptor 9	gene	DOID:9009407	rhinovirus infections		ISO	RGD:1346715	D	RGD:9068941	20260115	RGD		associated with cystic fibrosis and Staphylococcal Infections and Pseudomonas Infections;mRNA: increased expression:sputum	PMID:32712204|REF_RGD_ID:630350557
10335251	Tlr9	toll like receptor 9	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		mRNA:increased expression:B lymphocyte (mouse)	PMID:21592581|REF_RGD_ID:7246894
10335251	Tlr9	toll like receptor 9	gene	DOID:9074	systemic lupus erythematosus	severity	ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:16973389|REF_RGD_ID:7245988
10335251	Tlr9	toll like receptor 9	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:snp:exon:c.1635C>T rs352140 (human)	PMID:19130296|REF_RGD_ID:5130767
10335251	Tlr9	toll like receptor 9	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:decreased expression:skin:	PMID:20493664|REF_RGD_ID:7794748
10335262	Marveld1	MARVEL domain containing 1	gene	DOID:0080600	COVID-19		ISO	RGD:1353944	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
10335262	Marveld1	MARVEL domain containing 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1353944	D	RGD:9068941	20220210	CTD		CTD Direct Evidence: marker/mechanism	PMID:31205918
10335262	Marveld1	MARVEL domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736208	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus CA1 (human)	PMID:12391607|REF_RGD_ID:10401229
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:10326	D	RGD:9068941	20200609	RGD			PMID:23911420|REF_RGD_ID:10401268
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:11573	listeriosis	severity	ISO	RGD:10326	D	RGD:9068941	20210108	RGD			PMID:17911624|REF_RGD_ID:40903039
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:12858	Huntington's disease		ISO	RGD:10326	D	RGD:9068941	20200609	RGD		protein:increased expression:brain (mouse)	PMID:14749423|REF_RGD_ID:10401227
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:1289	neurodegenerative disease		ISO	RGD:2327	D	RGD:9068941	20241116	RGD		protein:increased expression:neuron	PMID:27769255|REF_RGD_ID:408418724
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:13994	cleidocranial dysplasia		ISO	RGD:10326	D	RGD:9068941	20260319	MouseDO		OMIM:119600 | OMIM:216330	
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:14262	oral candidiasis	susceptibility	ISO	RGD:10326	D	RGD:9068941	20210108	RGD			PMID:26317211|REF_RGD_ID:11079756
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:1725	peritoneum cancer	severity	ISO	RGD:10326	D	RGD:9068941	20210108	RGD		associated with stomach cancer	PMID:26514342|REF_RGD_ID:11556383
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:2316	brain ischemia		ISO	RGD:736208	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17394460
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:299	adenocarcinoma		ISO	RGD:736208	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:34973135
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:736208	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17177178
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:399	tuberculosis		ISO	RGD:10326	D	RGD:9068941	20210108	RGD		mRNA:increased expression:lung, spleen (mouse)	PMID:28558034|REF_RGD_ID:40903038
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736208	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14563831
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736208	D	RGD:9068941	20210108	RGD		mRNA:increased expression:liver (human)	PMID:30659195|REF_RGD_ID:40903042
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736208	D	RGD:9068941	20200609	RGD		protein:increased expression:knee, articular cartilage (human)	PMID:19248099|REF_RGD_ID:10401213
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:8398	osteoarthritis	susceptibility	ISO	RGD:10326	D	RGD:9068941	20200609	RGD			PMID:22095691|REF_RGD_ID:10401214
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:736208	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:34973135
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:9000784	Fibrosis		ISO	RGD:736208	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: therapeutic	PMID:29266779
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:9000918	Disease Progression		ISO	RGD:736208	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:34973135
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:9000998	Brain Injuries		ISO	RGD:10326	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:cerebral cortex (mouse)	PMID:19833158|REF_RGD_ID:10401206
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:9000998	Brain Injuries		ISO	RGD:736208	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21549006
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:9001371	Eosinophilia		ISO	RGD:10326	D	RGD:9068941	20210108	RGD			PMID:24078688|REF_RGD_ID:40903041
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:9003936	Cardiomegaly		ISO	RGD:736208	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: therapeutic	PMID:29266779
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:9004484	Sepsis		ISO	RGD:2327	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle	PMID:11792653|REF_RGD_ID:625506
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:9005036	Bacteremia		ISO	RGD:10326	D	RGD:9068941	20210108	RGD		associated with alcohol use disorder;mRNA:increased expression:bone marrow (mouse)	PMID:28784931|REF_RGD_ID:40903040
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:9005372	Inflammation		ISO	RGD:736208	D	RGD:9068941	20200609	RGD		associated with Arthritis, Rheumatoid;protein:increased expression:synovial lining cell, nucleus (human)	PMID:10370372|REF_RGD_ID:10401215
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:9005930	Endotoxemia		ISO	RGD:10326	D	RGD:9068941	20210108	RGD			PMID:14659593|REF_RGD_ID:40903034
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:2327	D	RGD:9068941	20210108	RGD			PMID:15192048|REF_RGD_ID:1625687
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:9006966	Pseudomonas Aeruginosa Keratitis	treatment	ISO	RGD:10326	D	RGD:9068941	20210108	RGD		mRNA,protein:increased expression:cornea (mouse)	PMID:23626014|REF_RGD_ID:40903020
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:9007346	Cachexia	treatment	ISO	RGD:10326	D	RGD:9068941	20210108	RGD			PMID:27122162|REF_RGD_ID:40903021
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:9007456	Female Infertility		ISO	RGD:736208	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21177758
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:9008824	Sarcopenia		ISO	RGD:736208	D	RGD:9068941	20200609	RGD		mRNA:increased expression:vastus lateralis muscle (human)	PMID:15687482|REF_RGD_ID:10401226
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:934	viral infectious disease		ISO	RGD:10326	D	RGD:9068941	20220825	MouseDO			
10336166	Cebpb	CCAAT enhancer binding protein beta	gene	DOID:9452	steatotic liver disease		ISO	RGD:736208	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24469900
10337370	Ccni2	cyclin I family member 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2290194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
10337370	Ccni2	cyclin I family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2290194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10341818	Smkr1	small lysine rich protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:7204969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10342817	Exd3	exonuclease 3'-5' domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10342817	Exd3	exonuclease 3'-5' domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1606281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
10342817	Exd3	exonuclease 3'-5' domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1606281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
10342817	Exd3	exonuclease 3'-5' domain containing 3	gene	DOID:1826	epilepsy		ISO	RGD:1606281	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizure	
10342817	Exd3	exonuclease 3'-5' domain containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
10342817	Exd3	exonuclease 3'-5' domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1606281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
10342817	Exd3	exonuclease 3'-5' domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1606281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10342817	Exd3	exonuclease 3'-5' domain containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606281	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
10342817	Exd3	exonuclease 3'-5' domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1606281	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
10342817	Exd3	exonuclease 3'-5' domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10342817	Exd3	exonuclease 3'-5' domain containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
10342817	Exd3	exonuclease 3'-5' domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10342817	Exd3	exonuclease 3'-5' domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10342817	Exd3	exonuclease 3'-5' domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10342817	Exd3	exonuclease 3'-5' domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:11335	sarcoidosis		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17949965|REF_RGD_ID:4145494
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:1205	allergic disease		ISO	RGD:1349365	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:17641031|REF_RGD_ID:4145495
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:13166	allergic bronchopulmonary aspergillosis		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis	PMID:17898016|REF_RGD_ID:4145612
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:1485	cystic fibrosis		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:neutrophil	PMID:18026571|REF_RGD_ID:4145491
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD			PMID:18785972|REF_RGD_ID:4145604
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:2841	asthma		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD			PMID:20237293|REF_RGD_ID:4145486
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:2841	asthma		ISO	RGD:619924	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:15993846|REF_RGD_ID:2306304
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:2841	asthma		ISO	RGD:733477	D	RGD:9068941	20200609	RGD			PMID:11160256|PMID:15947487|REF_RGD_ID:4145513|REF_RGD_ID:4145603
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:2841	asthma		ISO	RGD:733477	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:20074456|REF_RGD_ID:4145487
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:733477	D	RGD:9068941	20200609	RGD			PMID:15491423|REF_RGD_ID:1626251
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:3082	interstitial lung disease		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18276722|REF_RGD_ID:4145606
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion	PMID:18684970|REF_RGD_ID:4145489
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:3310	atopic dermatitis		ISO	RGD:1349365	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:19715610|REF_RGD_ID:4145488
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:619924	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:15993846|REF_RGD_ID:2306304
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:4362	cervical cancer		ISO	RGD:1349365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:4483	rhinitis		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, mononuclear cell	PMID:17517104|REF_RGD_ID:4145498
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:619924	D	RGD:9068941	20200609	RGD		mRNA:increased expression:glomerulus	PMID:20071465|REF_RGD_ID:4145614
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:552	pneumonia		ISO	RGD:1349365	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:552	pneumonia		ISO	RGD:619924	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:15993846|REF_RGD_ID:2306304
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:9001371	Eosinophilia	severity	ISO	RGD:1349365	D	RGD:9068941	20200609	RGD		associated with Lymphoma, T-Cell	PMID:18395252|REF_RGD_ID:11354898
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:9002287	Respiratory Tract Granuloma		ISO	RGD:733477	D	RGD:9068941	20200609	RGD			PMID:15466387|REF_RGD_ID:4145515
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:9007417	Pseudomonas Infections		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis	PMID:16387607|REF_RGD_ID:4145500
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:9008604	Radiation Pneumonitis		ISO	RGD:619924	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung, alveolar macrophage	PMID:15293604|REF_RGD_ID:4145517
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
10343503	Ccl17	C-C motif chemokine ligand 17	gene	DOID:9498	pulmonary eosinophilia		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:11956056|REF_RGD_ID:4145602
10345881	Card6	caspase recruitment domain family member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
10345881	Card6	caspase recruitment domain family member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10345881	Card6	caspase recruitment domain family member 6	gene	DOID:0080600	COVID-19		ISO	RGD:1314062	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
10345881	Card6	caspase recruitment domain family member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
10345881	Card6	caspase recruitment domain family member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1314062	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
10345881	Card6	caspase recruitment domain family member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10345881	Card6	caspase recruitment domain family member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10347018	Phgr1	proline, histidine and glycine rich 1	gene	DOID:4362	cervical cancer		ISO	RGD:3398935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10348906	Foxq1	forkhead box Q1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27129776
10353052	Hs3st6	heparan sulfate-glucosamine 3-sulfotransferase 6	gene	DOID:10316	pneumoconiosis		ISO	RGD:1344226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25445010
10353052	Hs3st6	heparan sulfate-glucosamine 3-sulfotransferase 6	gene	DOID:1826	epilepsy		ISO	RGD:1344226	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:28492532
10353052	Hs3st6	heparan sulfate-glucosamine 3-sulfotransferase 6	gene	DOID:3275	thymoma		ISO	RGD:1344226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
10353052	Hs3st6	heparan sulfate-glucosamine 3-sulfotransferase 6	gene	DOID:9007991	Hereditary Angioedema 8		ISO	RGD:1344226	D	RGD:7240710	20210811	OMIM			
10353052	Hs3st6	heparan sulfate-glucosamine 3-sulfotransferase 6	gene	DOID:9007991	Hereditary Angioedema 8		ISO	RGD:1344226	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Angioedema, hereditary, 8	
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:0040002	aspirin allergy		ISO	RGD:733491	D	RGD:9068941	20250828	RGD		associated with chronic spontaneous urticaria;DNA:SNP:promoter:g.-444A>C	PMID:15100686|REF_RGD_ID:11097261
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:0050127	sinusitis		ISO	RGD:733491	D	RGD:9068941	20250828	RGD		DNA:SNP:promoter:g.-444A>C	PMID:17063752|REF_RGD_ID:626167422
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:733491	D	RGD:9068941	20250904	RGD		mRNA:increased expression:tonsil, lymphocyte	PMID:25211287|REF_RGD_ID:626419674
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:0060058	lymphoma		ISO	RGD:733491	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:733491	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:32929351
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:0060500	drug allergy		ISO	RGD:733491	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16433794
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:0080821	exercise-induced bronchoconstriction	severity	ISO	RGD:733491	D	RGD:9068941	20250830	RGD		DNA:SNP:promoter:g.-444A>C	PMID:16675353|REF_RGD_ID:626168278
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:0080822	aspirin-induced respiratory disease		ISO	RGD:733491	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10970818|PMID:20485159|PMID:9393345|PMID:9466979
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:0080822	aspirin-induced respiratory disease		ISO	RGD:733491	D	RGD:9068941	20250830	RGD		DNA:SNP:promoter:g.-444A>C	PMID:10970818|PMID:9393345|REF_RGD_ID:626168277|REF_RGD_ID:626168284
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:0080822	aspirin-induced respiratory disease		ISO	RGD:733491	D	RGD:9068941	20250830	RGD		protein:increased expression:bronchus	PMID:9466979|REF_RGD_ID:626168267
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:0111579	asthma, nasal polyps, and aspirin intolerance		ISO	RGD:733491	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance	PMID:25741868
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:10754	otitis media		IEP		D	RGD:11553910|PMID:20433028	20161017	RGD			
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:1205	allergic disease		ISO	RGD:733491	D	RGD:9068941	20250828	RGD		DNA:missense mutation:cds:p.E4K	PMID:16211251|REF_RGD_ID:626168245
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:1555	urticaria		ISO	RGD:733491	D	RGD:9068941	20250828	RGD		associated with aspirin allergy;DNA:SNP:promoter:g.-444A>C	PMID:19862937|REF_RGD_ID:11098801
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:1852	intrahepatic cholestasis		ISO	RGD:620677	D	RGD:9068941	20250918	RGD		mRNA:decreased expression:liver	PMID:31115536|REF_RGD_ID:626469571
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:1909	melanoma		ISO	RGD:733491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:224	transient cerebral ischemia		ISO	RGD:733491	D	RGD:9068941	20250830	RGD		DNA:SNPs:promoter:g.-444A>C, g.-1072G>A	PMID:19280718|REF_RGD_ID:626168270
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:224	transient cerebral ischemia		ISO	RGD:733491	D	RGD:9068941	20250830	RGD		DNA:mutations:intron, exons:multiple	PMID:20456754|REF_RGD_ID:626168272
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:2841	asthma		ISO	RGD:732524	D	RGD:9068941	20250830	RGD		DNA:SNP:promoter:g.-444A>C	PMID:19080797|REF_RGD_ID:626168265
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:2841	asthma		ISO	RGD:733491	D	RGD:9068941	20250828	RGD		mRNA:increased expression:sputum	PMID:21781515|REF_RGD_ID:626168258
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:2841	asthma		ISO	RGD:733491	D	RGD:9068941	20250830	RGD		mRNA:increased expression:blood, eosinophil	PMID:10970818|REF_RGD_ID:626168284
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:2841	asthma		ISO	RGD:733491	D	RGD:9068941	20250830	RGD		mRNA:increased expression:blood, neutrophil	PMID:12765316|REF_RGD_ID:626168266
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:2841	asthma	no_association	ISO	RGD:733491	D	RGD:9068941	20250828	RGD		DNA:SNP:promoter:g.-444A>C	PMID:20128419|PMID:28275397|REF_RGD_ID:4890407|REF_RGD_ID:626167423
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:2841	asthma	onset	ISO	RGD:733491	D	RGD:9068941	20250828	RGD		DNA:transversion:promoter:g.-444A>C	PMID:12063521|REF_RGD_ID:626167419
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:2841	asthma	onset	ISO	RGD:733491	D	RGD:9068941	20250830	RGD		DNA:SNP:promoter:g.-444A>C	PMID:19080532|REF_RGD_ID:626168283
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:2841	asthma	treatment	ISO	RGD:733491	D	RGD:9068941	20250828	RGD			PMID:12816731|REF_RGD_ID:626168253
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:2841	asthma	treatment	ISO	RGD:733491	D	RGD:9068941	20250904	RGD		DNA:SNP:promoter:g.-444A>C	PMID:12360108|PMID:17097040|PMID:19703064|REF_RGD_ID:626168273|REF_RGD_ID:626168276|REF_RGD_ID:626419676
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:2921	glomerulonephritis		ISO	RGD:620677	D	RGD:9068941	20200609	RGD		protein:altered activity:kidney, cortex (rat)	PMID:7827126|REF_RGD_ID:2316641
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:3526	cerebral infarction		ISO	RGD:733491	D	RGD:9068941	20250830	RGD		DNA:SNPs:promoter:g.-444A>C, g.-1072G>A	PMID:19280718|REF_RGD_ID:626168270
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:4481	allergic rhinitis		ISO	RGD:733491	D	RGD:9068941	20250830	RGD		DNA:SNP:promoter:g.-444A>C	PMID:16730545|REF_RGD_ID:626168264
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:574	peripheral nervous system disease		ISO	RGD:620677	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord dorsal horn (rat)	PMID:19908283|REF_RGD_ID:2316612
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:824	periodontitis	treatment	ISO	RGD:620677	D	RGD:9068941	20250918	RGD			PMID:33491771|REF_RGD_ID:626469572
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:9002023	Leukotriene C4 Synthase Deficiency		ISO	RGD:733491	D	RGD:7240710	20180130	OMIM			
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:620677	D	RGD:9068941	20250906	RGD		mRNA:increased expression:liver	PMID:17397868|REF_RGD_ID:626419685
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:620677	D	RGD:9068941	20250906	RGD			PMID:17194456|REF_RGD_ID:1599839
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:9003505	Venous Thromboembolism		ISO	RGD:733491	D	RGD:9068941	20250830	RGD		DNA:mutations:intron, exons:multiple	PMID:20456754|REF_RGD_ID:626168272
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:620677	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver (rat)	PMID:18461660|REF_RGD_ID:2302283
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:9005930	Endotoxemia		ISO	RGD:620677	D	RGD:9068941	20250906	RGD		mRNA, protein:increased expression:multiple	PMID:15619010|REF_RGD_ID:2316620
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:9006771	Chronic Rhinosinusitis		ISO	RGD:733491	D	RGD:9068941	20250830	RGD		mRNA:increased expression:sinonasal mucosa	PMID:15940133|REF_RGD_ID:626168282
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:9006956	nephrotoxicity		ISO	RGD:620677	D	RGD:9068941	20250918	RGD		mRNA, protein:increased expression:kidney	PMID:28502039|REF_RGD_ID:626469569
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps	treatment	ISO	RGD:733492	D	RGD:9068941	20250904	RGD			PMID:23751068|REF_RGD_ID:626419675
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10355889	Ltc4s	leukotriene C4 synthase	gene	DOID:9415	allergic asthma		ISO	RGD:733491	D	RGD:9068941	20250828	RGD		DNA:SNP, haplotype: :1072G>A (rs3776944)	PMID:22722751|REF_RGD_ID:626168257
10356953	Cracd	capping protein inhibiting regulator of actin dynamics	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2303430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10356953	Cracd	capping protein inhibiting regulator of actin dynamics	gene	DOID:0060058	lymphoma		ISO	RGD:2303430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
10356953	Cracd	capping protein inhibiting regulator of actin dynamics	gene	DOID:10534	stomach cancer		ISO	RGD:2303430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10356953	Cracd	capping protein inhibiting regulator of actin dynamics	gene	DOID:1909	melanoma		ISO	RGD:2303430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
10356953	Cracd	capping protein inhibiting regulator of actin dynamics	gene	DOID:4362	cervical cancer		ISO	RGD:2303430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10356953	Cracd	capping protein inhibiting regulator of actin dynamics	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2303430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10356953	Cracd	capping protein inhibiting regulator of actin dynamics	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2303430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10356953	Cracd	capping protein inhibiting regulator of actin dynamics	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2303430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10356953	Cracd	capping protein inhibiting regulator of actin dynamics	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2303430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
10358960	Znf772	zinc finger protein 772	gene	DOID:10283	prostate cancer		ISO	RGD:1606077	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
10358960	Znf772	zinc finger protein 772	gene	DOID:10283	prostate cancer		ISO	RGD:1606077	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
10358960	Znf772	zinc finger protein 772	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
10358960	Znf772	zinc finger protein 772	gene	DOID:3070	high grade glioma		ISO	RGD:1606077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
10358960	Znf772	zinc finger protein 772	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606077	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
10358960	Znf772	zinc finger protein 772	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10358960	Znf772	zinc finger protein 772	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10359240	Pagr1	PAXIP1 associated glutamate rich protein 1	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1606780	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
10359240	Pagr1	PAXIP1 associated glutamate rich protein 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1606780	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy	PMID:28492532
10359240	Pagr1	PAXIP1 associated glutamate rich protein 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1606780	D	RGD:9068941	20220826	RGD		mRNA, protein:decreased expression:esophagus (human)	PMID:33833989|REF_RGD_ID:153344568
10359240	Pagr1	PAXIP1 associated glutamate rich protein 1	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:1606780	D	RGD:9068941	20220826	RGD		protein:decreased expression:esophagus (human)	PMID:33833989|REF_RGD_ID:153344568
10359240	Pagr1	PAXIP1 associated glutamate rich protein 1	gene	DOID:9009121	lung metastasis		ISO	RGD:1606780	D	RGD:9068941	20220826	RGD		human cells in mouse model	PMID:33833989|REF_RGD_ID:153344568
10359842	Rpl6	ribosomal protein L6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10359842	Rpl6	ribosomal protein L6	gene	DOID:10534	stomach cancer		ISO	RGD:733694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10359842	Rpl6	ribosomal protein L6	gene	DOID:14330	Parkinson's disease		ISO	RGD:733694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18353766
10359842	Rpl6	ribosomal protein L6	gene	DOID:1909	melanoma		ISO	RGD:733694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
10359842	Rpl6	ribosomal protein L6	gene	DOID:305	carcinoma		ISO	RGD:733694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
10359842	Rpl6	ribosomal protein L6	gene	DOID:4362	cervical cancer		ISO	RGD:733694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10359842	Rpl6	ribosomal protein L6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10359842	Rpl6	ribosomal protein L6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10359842	Rpl6	ribosomal protein L6	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:733694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
10359842	Rpl6	ribosomal protein L6	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:733694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
10359842	Rpl6	ribosomal protein L6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10360993	Hoxd9	homeobox D9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
10360993	Hoxd9	homeobox D9	gene	DOID:1324	lung cancer		ISO	RGD:1354432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
10360993	Hoxd9	homeobox D9	gene	DOID:3030	mucinous adenocarcinoma		ISO	RGD:1354432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075790
10360993	Hoxd9	homeobox D9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
10360993	Hoxd9	homeobox D9	gene	DOID:4362	cervical cancer		ISO	RGD:1354432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10360993	Hoxd9	homeobox D9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
10360993	Hoxd9	homeobox D9	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1354432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075790
10360993	Hoxd9	homeobox D9	gene	DOID:9008192	Neoplastic Processes		ISO	RGD:1354432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075790
10360993	Hoxd9	homeobox D9	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1354432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075790
10360993	Hoxd9	homeobox D9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10361010	Zscan25	zinc finger and SCAN domain containing 25	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318498	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10361010	Zscan25	zinc finger and SCAN domain containing 25	gene	DOID:1324	lung cancer		ISO	RGD:1318498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
10361010	Zscan25	zinc finger and SCAN domain containing 25	gene	DOID:1909	melanoma		ISO	RGD:1318498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
10361010	Zscan25	zinc finger and SCAN domain containing 25	gene	DOID:4362	cervical cancer		ISO	RGD:1318498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10361010	Zscan25	zinc finger and SCAN domain containing 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:0050083	Keshan disease		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.P198L (human)	PMID:21055077|REF_RGD_ID:11352821
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:0050866	oral squamous cell carcinoma	exacerbates	ISO	RGD:737005	D	RGD:9068941	20220623	RGD		protein:increased expression:oral cavity (human)	PMID:28653098|REF_RGD_ID:152995473
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:0060058	lymphoma		ISO	RGD:737005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:0060060	non-Hodgkin lymphoma	treatment	ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:25016003|REF_RGD_ID:11352765
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.P198L (human)	PMID:27077777|REF_RGD_ID:11352761
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:10681	D	RGD:9068941	20200609	RGD			PMID:24597775|REF_RGD_ID:11352823
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:0080600	COVID-19		ISO	RGD:737005	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:737005	D	RGD:9068941	20220428	RGD		protein:decreased expression:stomach (human)	PMID:22843889|REF_RGD_ID:151665483
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:10534	stomach cancer	susceptibility	ISO	RGD:737005	D	RGD:9068941	20220623	RGD		DNA:missense mutation, haplotype:CDS:p.P198L (human)	PMID:19035188|REF_RGD_ID:152995456
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:737005	D	RGD:9068941	20230928	RGD		protein:decreased expression:placenta	PMID:20303587|PMID:28705740|REF_RGD_ID:401827170|REF_RGD_ID:401827825
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:737005	D	RGD:9068941	20230930	RGD		mRNA:decreased expression:placenta	PMID:18852388|REF_RGD_ID:401827849
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:10763	hypertension		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21593737
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:10763	hypertension		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		protein,mRNA:decreased_expression:mononuclear_cells:after treatment, activity increased but mRNA expression decreased further	PMID:17198913|REF_RGD_ID:1600704
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:10763	hypertension	treatment	ISO	RGD:2729	D	RGD:9068941	20230720	RGD			PMID:21210316|PMID:23752977|PMID:31572179|REF_RGD_ID:11352825|REF_RGD_ID:11353777|REF_RGD_ID:329956417
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:10923	sickle cell anemia		ISO	RGD:10681	D	RGD:9068941	20200609	RGD		protein:decreased expression:penis	PMID:22620981|REF_RGD_ID:11352757
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:10923	sickle cell anemia		ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:20846340|REF_RGD_ID:11352775
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:10923	sickle cell anemia	treatment	ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:19951064|REF_RGD_ID:11352756
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:1099	alpha thalassemia		ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:24577940|REF_RGD_ID:11352811
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737005	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:15247771|PMID:35764155
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:11476	osteoporosis		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:11713	diabetic angiopathy		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood	PMID:16338763|REF_RGD_ID:1600708
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:11714	gestational diabetes		ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:22342560|REF_RGD_ID:11353780
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:11758	iron deficiency anemia		ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:7861256|REF_RGD_ID:11352760
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:11758	iron deficiency anemia	treatment	ISO	RGD:737005	D	RGD:9068941	20200609	RGD		associated with Renal Insufficiency, Chronic	PMID:24691014|REF_RGD_ID:11352819
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:1176	bronchial disease	treatment	ISO	RGD:2729	D	RGD:9068941	20260730	RGD			PMID:36152413|REF_RGD_ID:736802360
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:1184	nephrotic syndrome		ISO	RGD:2729	D	RGD:9068941	20231005	RGD		mRNA:increased expression:kidney	PMID:20685819|REF_RGD_ID:7205671
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:1240	leukemia		ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:17205986|REF_RGD_ID:11352809
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:12849	autistic disorder		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19195803
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:12858	Huntington's disease		ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:18588971|REF_RGD_ID:13432193
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14573732
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:1287	cardiovascular system disease	susceptibility	ISO	RGD:737005	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P198L (human)	PMID:15331559|REF_RGD_ID:2306612
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18940188
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:12930	dilated cardiomyopathy	susceptibility	ISO	RGD:737005	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.P198L (human)	PMID:18940188|REF_RGD_ID:2306616
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:13001	carotid stenosis		ISO	RGD:10681	D	RGD:9068941	20200609	RGD			PMID:23426106|REF_RGD_ID:11352755
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:1324	lung cancer		ISO	RGD:737005	D	RGD:9068941	20220428	RGD		DNA:missense mutation:CDS:p.P198L (human)	PMID:16615267|REF_RGD_ID:152023634
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:1324	lung cancer	exacerbates	ISO	RGD:737005	D	RGD:9068941	20220623	RGD		DNA:mutations:multiple (human)	PMID:32850411|REF_RGD_ID:152995450
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:737005	D	RGD:9068941	20220630	RGD		DNA:missense mutation:CDS: (rs1050450) (human)	PMID:23516596|REF_RGD_ID:152998903
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:737005	D	RGD:9068941	20220630	RGD		DNA:missense mutation:CDS:p.P198L (human)	PMID:11103801|PMID:15192016|REF_RGD_ID:152995449|REF_RGD_ID:152995506
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:1459	hypothyroidism	treatment	ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:22733496|REF_RGD_ID:7257534
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:1596	depressive disorder		ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:23707456|REF_RGD_ID:11352766
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:737005	D	RGD:9068941	20220623	RGD		DNA:repeat:CDS: (human)	PMID:14744747|REF_RGD_ID:152995457
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15557674
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:182	calcinosis	susceptibility	ISO	RGD:737005	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P197L (human)	PMID:17825092|REF_RGD_ID:2306608
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:1826	epilepsy		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19499324
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:2018	hyperinsulinism		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15184668|PMID:18560803
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:219	colon cancer		ISO	RGD:737005	D	RGD:9068941	20220630	RGD		mRNA, protein:increased expression:colon (human)	PMID:21868509|REF_RGD_ID:152995496
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:219	colon cancer	treatment	ISO	RGD:10681	D	RGD:9068941	20220624	RGD		associated with Inflammation	PMID:28045589|REF_RGD_ID:152995480
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:2316	brain ischemia		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12531513
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:10681	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:17420349|REF_RGD_ID:2306610
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:2355	anemia		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic	PMID:8939405|REF_RGD_ID:11352778
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:2355	anemia	treatment	ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:21422078|REF_RGD_ID:11352776
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:2527	nephrosis		ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:22046528|REF_RGD_ID:7240570
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:2596	larynx cancer	susceptibility	ISO	RGD:737005	D	RGD:9068941	20220630	RGD		DNA:missense mutation:CDS: (rs1050450) (human)	PMID:23516596|REF_RGD_ID:152998903
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15247771
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:2738	pseudoxanthoma elasticum	onset	ISO	RGD:737005	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:c.593C>T (rs1050450)	PMID:17693525|REF_RGD_ID:8547520
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:285	hairy cell leukemia		ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:8843970|REF_RGD_ID:11353776
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:2876	laryngeal squamous cell carcinoma	disease_progression	ISO	RGD:737005	D	RGD:9068941	20220623	RGD		DNA:missense mutation:CDS:p.P198L (rs1050450) (human)	PMID:27188866|REF_RGD_ID:152995455
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:2876	laryngeal squamous cell carcinoma	disease_progression	ISO	RGD:737005	D	RGD:9068941	20220623	RGD		protein:increased expression:larynx (human)	PMID:28641905|REF_RGD_ID:152995454
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:2876	laryngeal squamous cell carcinoma	no_association	ISO	RGD:737005	D	RGD:9068941	20220630	RGD		DNA:missense mutation:CDS:p.P198L (human)	PMID:24074040|REF_RGD_ID:152995493
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:3393	coronary artery disease		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		DNA:repeat:exon	PMID:12655278|REF_RGD_ID:1600677
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:3393	coronary artery disease		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood	PMID:16338763|REF_RGD_ID:1600708
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:3717	gastric adenocarcinoma	exacerbates	ISO	RGD:737005	D	RGD:9068941	20220623	RGD		protein:decreased expression:mucosa of stomach (human)	PMID:24228025|REF_RGD_ID:152995446
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:3717	gastric adenocarcinoma	susceptibility	ISO	RGD:737005	D	RGD:9068941	20220630	RGD		mRNA:decreased expression:stomach, erythrocyte, lymphocyte (human)	PMID:27957666|REF_RGD_ID:152998894
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:737005	D	RGD:9068941	20220630	RGD		DNA:missense mutation:CDS:p.P200L (rs1050450) (human)	PMID:18298806|REF_RGD_ID:152995507
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:3907	lung squamous cell carcinoma	susceptibility	ISO	RGD:737005	D	RGD:9068941	20220624	RGD		DNA:missense mutation:CDS:p.P198L (rs1050450) (human)	PMID:16797832|REF_RGD_ID:152995481
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:3908	lung non-small cell carcinoma	onset	ISO	RGD:737005	D	RGD:9068941	20220630	RGD		mRNA:increased expression:leukocyte (human)	PMID:33474835|REF_RGD_ID:152998904
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:737005	D	RGD:9068941	20220630	RGD		DNA:SNP: (human)	PMID:19347979|REF_RGD_ID:152998881
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:4195	hyperglycemia		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15184668
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:4195	hyperglycemia	treatment	ISO	RGD:737005	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:19819955|REF_RGD_ID:11353779
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:737005	D	RGD:9068941	20251106	CTD		CTD Direct Evidence: marker/mechanism	PMID:39294077
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:5517	stomach carcinoma	exacerbates	ISO	RGD:737005	D	RGD:9068941	20220428	RGD		protein:decreased expression:stomach (human)	PMID:8001233|REF_RGD_ID:152023661
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:14573732|REF_RGD_ID:1600662
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730872	D	RGD:9068941	20220415	RGD		associated with alcoholic liver cirrhosis;DNA:missense mutation:CDS:p.P198L (human)	PMID:16510607|REF_RGD_ID:151708729
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:684	hepatocellular carcinoma	no_association	ISO	RGD:737005	D	RGD:9068941	20220701	RGD		DNA:missense mutation:CDS:p.P198L (human)	PMID:25894370|REF_RGD_ID:152998906
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:737005	D	RGD:9068941	20220415	RGD		associated with hepatitis C;DNA:missense mutation:CDS:p.P198L (rs1050450) (human)	PMID:26990426|REF_RGD_ID:11533013
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:732740	D	RGD:9068941	20220624	RGD			PMID:19929244|REF_RGD_ID:152995483
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:7693	abdominal aortic aneurysm	treatment	ISO	RGD:10681	D	RGD:9068941	20230928	RGD			PMID:21530968|PMID:24337353|REF_RGD_ID:401827823|REF_RGD_ID:401827834
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:784	chronic kidney disease		ISO	RGD:737005	D	RGD:9068941	20230928	RGD		DNA:SNP: :rs17080528 (human)	PMID:31924810|REF_RGD_ID:401827826
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:784	chronic kidney disease	treatment	ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:15954914|REF_RGD_ID:11352759
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:19914224|REF_RGD_ID:9068475
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19914224
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:83	cataract		ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:23194826|REF_RGD_ID:11353787
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:8552	chronic myeloid leukemia	no_association	ISO	RGD:737005	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.P198L (human)	PMID:25436036|REF_RGD_ID:11352762
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		protein:decreased expression:erythrocyte	PMID:20186929|REF_RGD_ID:11352754
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:8725	vascular dementia	treatment	ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:24968700|REF_RGD_ID:11352822
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:8778	Crohn's disease		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		protein:decreased expression:erythrocyte	PMID:20186929|REF_RGD_ID:11352754
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:8923	skin melanoma		ISO	RGD:737005	D	RGD:9068941	20220428	RGD		mRNA:increased expression:skin of body (human)	PMID:29535818|REF_RGD_ID:152023655
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:737005	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35764155
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9000582	Reticulocytosis		ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:6320862|REF_RGD_ID:11353799
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:2729	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hippocampus, neuron	PMID:15791111|REF_RGD_ID:2306624
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9001109	Anorexia	treatment	ISO	RGD:737005	D	RGD:9068941	20200609	RGD		associated with Uremia	PMID:12005352|REF_RGD_ID:11352773
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9001191	Cadmium Poisoning	treatment	ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:24954678|REF_RGD_ID:11352769
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:737005	D	RGD:9068941	20230928	RGD		mRNA, protein:increased expression:blood, plasma	PMID:28298473|REF_RGD_ID:401827171
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9001878	Disorders of Environmental Origin		ISO	RGD:2729	D	RGD:9068941	20250717	RGD		associated with BBOP exposure; mRNA, protein:decreased expression:adrenal cortex	PMID:35762508|REF_RGD_ID:617212669
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:10681	D	RGD:9068941	20200609	RGD		protein:increased expression:glomerulus	PMID:17609286|REF_RGD_ID:2306609
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1	PMID:16249459|REF_RGD_ID:11068479
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:2729	D	RGD:9068941	20231005	RGD		associated with Experimental Diabetes Mellitus	PMID:32592386|REF_RGD_ID:401827869
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9002682	Cardiovascular Abnormalities		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:16844917|REF_RGD_ID:2306611
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9003298	Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to		ISO	RGD:737005	D	RGD:7240710	20180130	OMIM			
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9003603	Hemolysis		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		following reinfusion of stored blood	PMID:5766310|REF_RGD_ID:1600671
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9003709	Mercury Poisoning		ISO	RGD:10681	D	RGD:9068941	20200609	RGD			PMID:18758054|REF_RGD_ID:7240571
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:10681	D	RGD:9068941	20200609	RGD			PMID:23426106|REF_RGD_ID:11352755
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23743330
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9004786	Carbon Tetrachloride Poisoning		ISO	RGD:2729	D	RGD:9068941	20231007	RGD			PMID:18306454|REF_RGD_ID:2312624
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11103801
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:18387670|REF_RGD_ID:2306607
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2729	D	RGD:9068941	20200609	RGD		protein:increased expression:glomerulus	PMID:15039483|REF_RGD_ID:2306161
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2729	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:19229592|REF_RGD_ID:2306606
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:25744399|REF_RGD_ID:11353782
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9005725	Iron Overload		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		associated with Beta-Thalassemia	PMID:16317757|REF_RGD_ID:11352779
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9006169	Head and Neck Neoplasms		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15557674
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9006302	Binge Drinking		ISO	RGD:2729	D	RGD:9068941	20231005	RGD		protein:decreased expression:liver	PMID:25864381|REF_RGD_ID:401827870
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9006553	Hyperthermia		ISO	RGD:737005	D	RGD:9068941	20211015	CTD		CTD Direct Evidence: therapeutic	PMID:34082047
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9007188	Liver Neoplasms	treatment	ISO	RGD:10681	D	RGD:9068941	20220623	RGD			PMID:26147624|REF_RGD_ID:152995453
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25053573
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9008691	Liver Injury	treatment	ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:23750655|REF_RGD_ID:11353785
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12810669
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:737005	D	RGD:9068941	20200609	RGD		DNA:SNP: :c.599C>T (rs1050450) (human)	PMID:26950655|REF_RGD_ID:11061784
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:737005	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.P198L (human)	PMID:26823947|REF_RGD_ID:11061561
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9119	acute myeloid leukemia	treatment	ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:22930375|REF_RGD_ID:11352817
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:737005	D	RGD:9068941	20220428	RGD		mRNA:decreased expression:colorectum (human)	PMID:25550558|REF_RGD_ID:152023662
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:737005	D	RGD:9068941	20220428	RGD		DNA:missense mutation:CDS:p.P198L (human)	PMID:19428376|REF_RGD_ID:152023636
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9261	nasopharynx carcinoma	susceptibility	ISO	RGD:737005	D	RGD:9068941	20220623	RGD		DNA:missense mutation:CDS:p.P198L (human)	PMID:33616746|REF_RGD_ID:152995452
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9279	hyperhomocysteinemia	treatment	ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:24563435|REF_RGD_ID:11035307
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366|PMID:23795780
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10860543
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:2729	D	RGD:9068941	20240201	RGD			PMID:30298849|REF_RGD_ID:401960083
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9538	multiple myeloma		ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:8599825|REF_RGD_ID:11352777
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9669	senile cataract		ISO	RGD:10681	D	RGD:9068941	20200609	RGD			PMID:16129095|REF_RGD_ID:10003112
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:24698347|REF_RGD_ID:11352812
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9952	acute lymphoblastic leukemia	treatment	ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:17317918|REF_RGD_ID:11352774
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9970	obesity		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15184668
10362863	Gpx1	glutathione peroxidase 1	gene	DOID:9970	obesity	treatment	ISO	RGD:2729	D	RGD:9068941	20240201	RGD			PMID:30298849|REF_RGD_ID:401960083
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:11830	myopia		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:12176	goiter		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:12849	autistic disorder		ISO	RGD:733391	D	RGD:9068941	20221103	CTD		CTD Direct Evidence: marker/mechanism	PMID:35982159
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:1324	lung cancer		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:1969	cerebral palsy		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:2841	asthma		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733391	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:783	end stage renal disease		ISO	RGD:708405	D	RGD:9068941	20230914	RGD		protein:increased expression:kidney (rat)	PMID:19878707|REF_RGD_ID:2326081
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:824	periodontitis		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:9003507	Premature Birth		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:9005077	Joint Instability		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:9007661	Dwarfism		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
10364987	Scaf1	SR-related CTD associated factor 1	gene	DOID:9970	obesity		ISO	RGD:733391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
10368661	LOC106149796	chromosome unknown open reading frame, human C2orf72	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:2298740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
10368661	LOC106149796	chromosome unknown open reading frame, human C2orf72	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2298740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10371996	Fkbpl	FKBP prolyl isomerase like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10371996	Fkbpl	FKBP prolyl isomerase like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10371996	Fkbpl	FKBP prolyl isomerase like	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1353952	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20103631
10378497	Dcd	dermcidin	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1349389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20195826
10378497	Dcd	dermcidin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10379226	Sco2	synthesis of cytochrome C oxidase 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1347479	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16326995
10379226	Sco2	synthesis of cytochrome C oxidase 2	gene	DOID:0070491	mitochondrial complex IV deficiency nuclear type 1		ISO	RGD:1347479	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1	PMID:25741868
10379226	Sco2	synthesis of cytochrome C oxidase 2	gene	DOID:0080119	mitochondrial DNA depletion syndrome 1		ISO	RGD:127232614|RGD:8661028|RGD:8691614|RGD:8692818|RGD:8692820|RGD:8692821|RGD:8692822	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) | ClinVar Annotator: match by term: TYMP-related condition	PMID:25741868|PMID:28492532
10379226	Sco2	synthesis of cytochrome C oxidase 2	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:10410120|RGD:10410587|RGD:11627140|RGD:11665671|RGD:12906389|RGD:40905622|RGD:40905623|RGD:40905624|RGD:8691615|RGD:8691616	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency	
10379226	Sco2	synthesis of cytochrome C oxidase 2	gene	DOID:0080357	mitochondrial complex IV deficiency nuclear type 2		ISO	RGD:1347479	D	RGD:7240710	20180130	OMIM			
10379226	Sco2	synthesis of cytochrome C oxidase 2	gene	DOID:0080357	mitochondrial complex IV deficiency nuclear type 2		ISO	RGD:1347479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	
10379226	Sco2	synthesis of cytochrome C oxidase 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1347479	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11027508|PMID:14970747
10379226	Sco2	synthesis of cytochrome C oxidase 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1347479	D	RGD:9068941	20200609	RGD			PMID:10749987|REF_RGD_ID:1580020
10379226	Sco2	synthesis of cytochrome C oxidase 2	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISO	RGD:1347479	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:11027508|PMID:16326995
10379226	Sco2	synthesis of cytochrome C oxidase 2	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISO	RGD:1347479	D	RGD:9068941	20260604	RGD			PMID:10749987|REF_RGD_ID:1580020
10379226	Sco2	synthesis of cytochrome C oxidase 2	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISO	RGD:2302344	D	RGD:9068941	20260604	MouseDO		OMIM:220110	
10379226	Sco2	synthesis of cytochrome C oxidase 2	gene	DOID:890	mitochondrial encephalomyopathy		ISO	RGD:1347479	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16326995|PMID:23345593
10379226	Sco2	synthesis of cytochrome C oxidase 2	gene	DOID:9001488	Human Influenza		ISO	RGD:1347479	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
10379226	Sco2	synthesis of cytochrome C oxidase 2	gene	DOID:9004853	Myopia 6		ISO	RGD:1347479	D	RGD:7240710	20180130	OMIM			
10379226	Sco2	synthesis of cytochrome C oxidase 2	gene	DOID:9005683	Metabolic Brain Diseases, Inborn		ISO	RGD:1347479	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23345593
10379234	Znf565	zinc finger protein 565	gene	DOID:5419	schizophrenia		ISO	RGD:1344264	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743468
10379234	Znf565	zinc finger protein 565	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
10379234	Znf565	zinc finger protein 565	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10379602	Homez	homeobox and leucine zipper encoding	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10379602	Homez	homeobox and leucine zipper encoding	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10381358	Stmp1	short transmembrane mitochondrial protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:5480038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10381358	Stmp1	short transmembrane mitochondrial protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:5480038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10381358	Stmp1	short transmembrane mitochondrial protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:5480038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
10388026	Prss57	serine protease 57	gene	DOID:0080600	COVID-19		ISO	RGD:1342482	D	RGD:9068941	20200613	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
10388026	Prss57	serine protease 57	gene	DOID:1115	sarcoma		ISO	RGD:1342482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
10388026	Prss57	serine protease 57	gene	DOID:2843	long QT syndrome		ISO	RGD:1342482	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
10388026	Prss57	serine protease 57	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
10392019	Chml	CHM like Rab escort protein	gene	DOID:2841	asthma		ISO	RGD:1313260	D	RGD:9068941	20200609	RGD			PMID:18343558|REF_RGD_ID:5133238
10392057	Cdc25c	cell division cycle 25C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10392057	Cdc25c	cell division cycle 25C	gene	DOID:0080365	endometrial hyperplasia		ISO	RGD:1323559	D	RGD:9068941	20200609	RGD			PMID:12931023|REF_RGD_ID:4105452
10392057	Cdc25c	cell division cycle 25C	gene	DOID:10283	prostate cancer		ISO	RGD:1323559	D	RGD:9068941	20200609	RGD			PMID:12896904|PMID:16140946|PMID:17460776|REF_RGD_ID:2756028|REF_RGD_ID:2774210|REF_RGD_ID:4105453
10392057	Cdc25c	cell division cycle 25C	gene	DOID:10283	prostate cancer		ISO	RGD:1323559	D	RGD:9068941	20200609	RGD		mRNA, protein:alternative form, increased expression, increased activity:prostate gland	PMID:16000564|REF_RGD_ID:2776427
10392057	Cdc25c	cell division cycle 25C	gene	DOID:10534	stomach cancer		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10392057	Cdc25c	cell division cycle 25C	gene	DOID:1115	sarcoma		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
10392057	Cdc25c	cell division cycle 25C	gene	DOID:1380	endometrial cancer		ISO	RGD:1323559	D	RGD:9068941	20200609	RGD		DNA:mutation (human)	PMID:12124347|REF_RGD_ID:4105455
10392057	Cdc25c	cell division cycle 25C	gene	DOID:1612	breast cancer		ISO	RGD:1323559	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:15567944|REF_RGD_ID:4105448
10392057	Cdc25c	cell division cycle 25C	gene	DOID:2101	vulva squamous cell carcinoma	disease_progression	ISO	RGD:1323559	D	RGD:9068941	20200609	RGD		protein:increased expression:vulva	PMID:20500813|REF_RGD_ID:2729590
10392057	Cdc25c	cell division cycle 25C	gene	DOID:2394	ovarian cancer		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
10392057	Cdc25c	cell division cycle 25C	gene	DOID:4362	cervical cancer		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10392057	Cdc25c	cell division cycle 25C	gene	DOID:5041	esophageal cancer		ISO	RGD:1323559	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
10392057	Cdc25c	cell division cycle 25C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10392057	Cdc25c	cell division cycle 25C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
10392057	Cdc25c	cell division cycle 25C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
10392057	Cdc25c	cell division cycle 25C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323559	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
8699521	Tex30	testis expressed 30	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8699521	Tex30	testis expressed 30	gene	DOID:3275	thymoma		ISO	RGD:1605014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8699521	Tex30	testis expressed 30	gene	DOID:4362	cervical cancer		ISO	RGD:1605014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8699521	Tex30	testis expressed 30	gene	DOID:5041	esophageal cancer		ISO	RGD:1605014	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8699521	Tex30	testis expressed 30	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8699521	Tex30	testis expressed 30	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8699521	Tex30	testis expressed 30	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8699537	Entrep1	endosomal transmembrane epsin interactor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316770	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8699537	Entrep1	endosomal transmembrane epsin interactor 1	gene	DOID:10283	prostate cancer		ISO	RGD:1316770	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8699537	Entrep1	endosomal transmembrane epsin interactor 1	gene	DOID:10283	prostate cancer		ISO	RGD:1316770	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8699537	Entrep1	endosomal transmembrane epsin interactor 1	gene	DOID:1324	lung cancer		ISO	RGD:1316770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8699537	Entrep1	endosomal transmembrane epsin interactor 1	gene	DOID:1909	melanoma		ISO	RGD:1316770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8699537	Entrep1	endosomal transmembrane epsin interactor 1	gene	DOID:3070	high grade glioma		ISO	RGD:1316770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8699537	Entrep1	endosomal transmembrane epsin interactor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8699537	Entrep1	endosomal transmembrane epsin interactor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8699537	Entrep1	endosomal transmembrane epsin interactor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8699537	Entrep1	endosomal transmembrane epsin interactor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:0051061	stroke		ISO	RGD:620732	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:promoter:-255T>C, -111G>A, 25C>T (rat)	PMID:18086949|REF_RGD_ID:5688363
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:0051061	stroke	susceptibility	ISO	RGD:731054	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:IVS16 (rs2291635) (human)	PMID:18323494|REF_RGD_ID:5688362
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:0051061	stroke	susceptibility	ISO	RGD:731054	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.K55R (human)	PMID:20065888|REF_RGD_ID:5688727
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:0051064	left ventricular failure		ISO	RGD:731054	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19834332
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:731054	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:30890645|PMID:35663546
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:0060319	cardiac arrest		ISO	RGD:731055	D	RGD:9068941	20200609	RGD			PMID:17728042|REF_RGD_ID:5688386
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:10534	stomach cancer		ISO	RGD:731054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:10763	hypertension		ISO	RGD:620732	D	RGD:9068941	20200609	RGD			PMID:16157792|PMID:21720266|REF_RGD_ID:1580985|REF_RGD_ID:5688733
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:10763	hypertension		ISO	RGD:731055	D	RGD:9068941	20200609	RGD			PMID:11001943|PMID:19553349|REF_RGD_ID:1580987|REF_RGD_ID:5688730
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:731054	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.K55R (human)	PMID:20065888|REF_RGD_ID:5688727
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:1115	sarcoma		ISO	RGD:731054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:620732	D	RGD:9068941	20230831	RGD		mRNA, protein:increased expression:heart (rat)	PMID:19889059|REF_RGD_ID:401794453
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:1324	lung cancer		ISO	RGD:731054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:731054	D	RGD:7240710	20180130	OMIM			
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:731054	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:10862610|PMID:12522687|PMID:12869654|PMID:14673705|PMID:14732757|PMID:15845398|PMID:25741868
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:731054	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:25741868
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:14330	Parkinson's disease	no_association	ISO	RGD:731054	D	RGD:9068941	20200609	RGD		DNA:missense mutation, insertion:exons:p.R287Q (898G>A), p.S402_R403insR (1246_1247insTCG) (human)	PMID:11692079|REF_RGD_ID:5688390
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:1909	melanoma		ISO	RGD:731054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:1936	atherosclerosis		ISO	RGD:731055	D	RGD:9068941	20200609	RGD			PMID:20224052|REF_RGD_ID:5688357
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:3021	acute kidney failure		ISO	RGD:731054	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:26165641
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:3275	thymoma		ISO	RGD:731054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:3393	coronary artery disease		ISO	RGD:731054	D	RGD:9068941	20200609	RGD			PMID:14732757|REF_RGD_ID:1580982
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:3526	cerebral infarction		ISO	RGD:620732	D	RGD:9068941	20200609	RGD			PMID:16306811|REF_RGD_ID:1580986
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:4362	cervical cancer		ISO	RGD:731054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:731054	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:5419	schizophrenia		ISO	RGD:731054	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30890645
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:5844	myocardial infarction		ISO	RGD:731055	D	RGD:9068941	20200609	RGD			PMID:19716829|REF_RGD_ID:5688358
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:6000	congestive heart failure		ISO	RGD:731054	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18443590
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:731054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:620732	D	RGD:9068941	20200609	RGD			PMID:19226702|REF_RGD_ID:5688731
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:783	end stage renal disease	disease_progression	ISO	RGD:731055	D	RGD:9068941	20200609	RGD			PMID:20694143|REF_RGD_ID:5688726
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:9000146	Plaque, Atherosclerotic	susceptibility	ISO	RGD:731054	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotypes:exon, intron:p.R287Q, IVS11-883C>G (rs751141, rs721619) (human)	PMID:16545818|REF_RGD_ID:5688389
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:9000528	Coronary Disease		ISO	RGD:731054	D	RGD:9068941	20200609	RGD			PMID:16595607|REF_RGD_ID:1580981
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:731055	D	RGD:9068941	20200609	RGD			PMID:21075124|REF_RGD_ID:5688356
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:731055	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21832210|REF_RGD_ID:5688728
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:620732	D	RGD:9068941	20200609	RGD			PMID:16962614|REF_RGD_ID:5688387
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:731055	D	RGD:9068941	20200609	RGD			PMID:19471280|REF_RGD_ID:5688359
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:620732	D	RGD:9068941	20200609	RGD			PMID:22051199|REF_RGD_ID:5688354
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:731054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:9005930	Endotoxemia		ISO	RGD:731055	D	RGD:9068941	20200609	RGD			PMID:19154430|REF_RGD_ID:5688360
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:620732	D	RGD:9068941	20200609	RGD			PMID:22007192|REF_RGD_ID:5688391
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:731054	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:26165641
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:731054	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29298899
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:731054	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19834332
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8699556	Ephx2	epoxide hydrolase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:731054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8699603	Pank4	pantothenate kinase 4 (inactive)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8699603	Pank4	pantothenate kinase 4 (inactive)	gene	DOID:10534	stomach cancer		ISO	RGD:731329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8699603	Pank4	pantothenate kinase 4 (inactive)	gene	DOID:1909	melanoma		ISO	RGD:731329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8699603	Pank4	pantothenate kinase 4 (inactive)	gene	DOID:3275	thymoma		ISO	RGD:731329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8699603	Pank4	pantothenate kinase 4 (inactive)	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8699603	Pank4	pantothenate kinase 4 (inactive)	gene	DOID:5041	esophageal cancer		ISO	RGD:731329	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8699603	Pank4	pantothenate kinase 4 (inactive)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731329	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8699603	Pank4	pantothenate kinase 4 (inactive)	gene	DOID:6039	uveal melanoma		ISO	RGD:731329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8699603	Pank4	pantothenate kinase 4 (inactive)	gene	DOID:83	cataract		ISO	RGD:1550985	D	RGD:9068941	20220825	MouseDO		OMIM:601371	
8699603	Pank4	pantothenate kinase 4 (inactive)	gene	DOID:9001743	Cataract 49		ISO	RGD:731329	D	RGD:7240710	20211110	OMIM			
8699603	Pank4	pantothenate kinase 4 (inactive)	gene	DOID:9001743	Cataract 49		ISO	RGD:731329	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cataract 49	PMID:25741868
8699603	Pank4	pantothenate kinase 4 (inactive)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8699603	Pank4	pantothenate kinase 4 (inactive)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8699603	Pank4	pantothenate kinase 4 (inactive)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8699652	Lig1	DNA ligase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8699652	Lig1	DNA ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8699652	Lig1	DNA ligase 1	gene	DOID:0060639	permanent neonatal diabetes mellitus		ISO	RGD:731763	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Permanent Neonatal Diabetes Mellitus	PMID:25741868
8699652	Lig1	DNA ligase 1	gene	DOID:0061066	immunodeficiency 96		ISO	RGD:731763	D	RGD:7240710	20220316	OMIM			
8699652	Lig1	DNA ligase 1	gene	DOID:0061066	immunodeficiency 96		ISO	RGD:731763	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 96 | ClinVar Annotator: match by term: Immunodeficiency 96 | ClinVar Annotator: match by term: LIG1-related condition	PMID:1581963|PMID:25741868|PMID:28492532|PMID:30395541|PMID:32888943|PMID:32914844|PMID:33444456|PMID:33600799
8699652	Lig1	DNA ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:24033266|PMID:25741868|PMID:28492532
8699652	Lig1	DNA ligase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8699652	Lig1	DNA ligase 1	gene	DOID:1115	sarcoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8699652	Lig1	DNA ligase 1	gene	DOID:1324	lung cancer		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:24033266|PMID:25741868|PMID:28492532
8699652	Lig1	DNA ligase 1	gene	DOID:1909	melanoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8699652	Lig1	DNA ligase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
8699652	Lig1	DNA ligase 1	gene	DOID:2717	Bloom syndrome		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DNA Ligase I Deficiency	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8699652	Lig1	DNA ligase 1	gene	DOID:3275	thymoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:24033266|PMID:25741868|PMID:28492532
8699652	Lig1	DNA ligase 1	gene	DOID:4362	cervical cancer		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:24033266|PMID:25741868|PMID:28492532
8699652	Lig1	DNA ligase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:24033266|PMID:25741868|PMID:28492532
8699652	Lig1	DNA ligase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
8699652	Lig1	DNA ligase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:731763	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:24033266|PMID:25741868|PMID:28492532
8699652	Lig1	DNA ligase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8699652	Lig1	DNA ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
8699652	Lig1	DNA ligase 1	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:731763	D	RGD:9068941	20200609	RGD		DNA ligase I deficiency	PMID:1351188|REF_RGD_ID:1600089
8699652	Lig1	DNA ligase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:28492532
8699652	Lig1	DNA ligase 1	gene	DOID:655	inherited metabolic disorder		ISO	RGD:731763	D	RGD:9068941	20200609	RGD		DNA ligase I deficiency	PMID:1351188|REF_RGD_ID:1600089
8699652	Lig1	DNA ligase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
8699652	Lig1	DNA ligase 1	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:621424	D	RGD:9068941	20200609	RGD			PMID:30813600|REF_RGD_ID:14995940
8699652	Lig1	DNA ligase 1	gene	DOID:9002720	Splenomegaly		ISO	RGD:731763	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:1581963|PMID:25741868|PMID:28492532|PMID:30395541|PMID:32914844|PMID:33600799
8699652	Lig1	DNA ligase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:24033266|PMID:25741868|PMID:28492532
8699652	Lig1	DNA ligase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8699652	Lig1	DNA ligase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:24033266|PMID:25741868|PMID:28492532
8699706	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8699706	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:0110608	primary ciliary dyskinesia 19		ISO	RGD:1351490	D	RGD:7240710	20180130	OMIM			
8699706	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:0110608	primary ciliary dyskinesia 19		ISO	RGD:1351490	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 19 | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 19 | ClinVar Annotator: match by term: DNAAF11-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 19 | ClinVar Annotator: match by term: primary ciliary dyskinesia 19	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20301301|PMID:20307669|PMID:22406018|PMID:23122589|PMID:23891469|PMID:24033266|PMID:25640679|PMID:25741868|PMID:27637300|PMID:28492532|PMID:29429202|PMID:29511670|PMID:30300419|PMID:31650533|PMID:31690835|PMID:36515799|PMID:41062319|PMID:9536098
8699706	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:0110622	primary ciliary dyskinesia 9		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis	PMID:25741868|PMID:27637300|PMID:28492532|PMID:36515799
8699706	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8699706	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:1324	lung cancer		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8699706	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:1909	melanoma		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8699706	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:2377	multiple sclerosis		ISO	RGD:1351490	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to	PMID:25741868|PMID:28492532
8699706	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:2394	ovarian cancer		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8699706	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8699706	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:5223	infertility		ISO	RGD:1351490	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Infertility	PMID:28492532|PMID:30300419
8699706	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8699706	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8699706	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8699706	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1351490	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:23122589|PMID:23891469|PMID:24033266|PMID:24307375|PMID:25741868|PMID:26139845|PMID:26228299|PMID:28492532
8699729	Gpnmb	glycoprotein nmb	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8699729	Gpnmb	glycoprotein nmb	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8699729	Gpnmb	glycoprotein nmb	gene	DOID:0060680	pigment dispersion syndrome		ISO	RGD:733525	D	RGD:9068941	20220825	MouseDO		OMIM:600510	
8699729	Gpnmb	glycoprotein nmb	gene	DOID:0080600	COVID-19		ISO	RGD:736300	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8699729	Gpnmb	glycoprotein nmb	gene	DOID:0080932	primary localized cutaneous amyloidosis 3		ISO	RGD:736300	D	RGD:7240710	20190315	OMIM			
8699729	Gpnmb	glycoprotein nmb	gene	DOID:0080932	primary localized cutaneous amyloidosis 3		ISO	RGD:736300	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3 | ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 3 | ClinVar Annotator: match by term: GPNMB-related condition	PMID:19416385|PMID:25741868|PMID:25866143|PMID:28492532|PMID:29336782
8699729	Gpnmb	glycoprotein nmb	gene	DOID:10534	stomach cancer		ISO	RGD:736300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8699729	Gpnmb	glycoprotein nmb	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8699729	Gpnmb	glycoprotein nmb	gene	DOID:3021	acute kidney failure		ISO	RGD:736300	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23052191
8699729	Gpnmb	glycoprotein nmb	gene	DOID:3275	thymoma		ISO	RGD:736300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8699729	Gpnmb	glycoprotein nmb	gene	DOID:3454	brain infarction		ISO	RGD:71008	D	RGD:9068941	20230527	RGD		mRNA:increased expression:brain (rat)	PMID:23251410|REF_RGD_ID:329845556
8699729	Gpnmb	glycoprotein nmb	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:736300	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24979617
8699729	Gpnmb	glycoprotein nmb	gene	DOID:5041	esophageal cancer		ISO	RGD:736300	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8699729	Gpnmb	glycoprotein nmb	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8699729	Gpnmb	glycoprotein nmb	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8699729	Gpnmb	glycoprotein nmb	gene	DOID:630	genetic disease		ISO	RGD:736300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8699729	Gpnmb	glycoprotein nmb	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736300	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8699729	Gpnmb	glycoprotein nmb	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:736300	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15763343
8699729	Gpnmb	glycoprotein nmb	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:736300	D	RGD:9068941	20250605	CTD		CTD Direct Evidence: marker/mechanism	PMID:38166464
8699729	Gpnmb	glycoprotein nmb	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8699729	Gpnmb	glycoprotein nmb	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:736300	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500|PMID:21278247
8699729	Gpnmb	glycoprotein nmb	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736300	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
8699729	Gpnmb	glycoprotein nmb	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8699748	Stra8	stimulated by retinoic acid 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8699748	Stra8	stimulated by retinoic acid 8	gene	DOID:1324	lung cancer		ISO	RGD:1604701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8699748	Stra8	stimulated by retinoic acid 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8699748	Stra8	stimulated by retinoic acid 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8699748	Stra8	stimulated by retinoic acid 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8699771	Hps4	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8699771	Hps4	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:0060542	Hermansky-Pudlak syndrome 4		ISO	RGD:1317629	D	RGD:7240710	20180130	OMIM			
8699771	Hps4	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:0060542	Hermansky-Pudlak syndrome 4		ISO	RGD:1317629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HERMANSKY-PUDLAK SYNDROME 4 | ClinVar Annotator: match by term: HPS4-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4	PMID:11836498|PMID:12664304|PMID:15108212|PMID:16199547|PMID:18463683|PMID:20158590|PMID:21833017|PMID:24033266|PMID:25741868|PMID:27176668|PMID:28492532|PMID:28983057|PMID:29600982|PMID:30985222|PMID:30990103|PMID:31898847|PMID:34838614|PMID:37647632
8699771	Hps4	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:0060971	interstitial lung disease 2		ISO	RGD:1317629	D	RGD:8554872	20240702	ClinVar		ClinVar Annotator: match by term: Interstitial lung disease 2	
8699771	Hps4	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1317629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8699771	Hps4	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1317629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8699771	Hps4	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:2223	platelet storage pool deficiency		ISO	RGD:1317630	D	RGD:9068941	20220825	MouseDO		OMIM:185050	
8699771	Hps4	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1317629	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hermansky-Pudlak syndrome	PMID:12664304|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31898847
8699771	Hps4	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317629	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8699771	Hps4	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:5419	schizophrenia	susceptibility	ISO	RGD:1317629	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:multiple:	PMID:23563589|REF_RGD_ID:11353873
8699771	Hps4	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8699771	Hps4	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8699771	Hps4	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1317629	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11836498|PMID:12664304|PMID:15108212|PMID:25741868|PMID:28492532|PMID:28983057|PMID:30985222|PMID:30990103
8699771	Hps4	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:8778	Crohn's disease		ISO	RGD:1317629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Granulomatous colitis	PMID:15108212|PMID:25741868
8699771	Hps4	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:9001386	Albinism		ISO	RGD:1317629	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Albinism	PMID:12664304|PMID:16199547|PMID:25741868|PMID:28492532
8699771	Hps4	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8699801	Dlx1	distal-less homeobox 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320012	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21302352
8699801	Dlx1	distal-less homeobox 1	gene	DOID:1115	sarcoma		ISO	RGD:1320012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8699801	Dlx1	distal-less homeobox 1	gene	DOID:12849	autistic disorder		ISO	RGD:1320012	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18728693
8699801	Dlx1	distal-less homeobox 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8699801	Dlx1	distal-less homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8699801	Dlx1	distal-less homeobox 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1320012	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9187081
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:0050840	cervical dystonia		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:0060249	scoliosis		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:0060825	Christianson syndrome		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angelman-like syndrome	PMID:25741868
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:0070480	schwannomatosis 1		ISO	RGD:1313743	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: SWNTS1	PMID:25741868|PMID:28492532
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:0070618	rhabdoid tumor predisposition syndrome 1		ISO	RGD:1313743	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial Posterior Fossa Brain Tumor of Infancy	PMID:25741868|PMID:28492532
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1313743	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:0080707	medulloblastoma non-WNT/non-SHH group 3		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 3	PMID:25741868|PMID:26760213|PMID:27993330|PMID:29489754|PMID:32025007
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:0112368	Coffin-Siris syndrome 5		ISO	RGD:1313743	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 5 | ClinVar Annotator: match by term: Coffin-Siris syndrome 5	PMID:23929686|PMID:25741868|PMID:27264197|PMID:28492532|PMID:35980532|PMID:37500730
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:0112368	Coffin-Siris syndrome 5	susceptibility	ISO	RGD:1313743	D	RGD:7240710	20260722	OMIM			
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:1059	intellectual disability		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:35980532
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:12849	autistic disorder		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:28492532|PMID:35980532
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:13620	patent foramen ovale		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:1925	Coffin-Siris syndrome		ISO	RGD:1313743	D	RGD:9068941	20221110	CTD		CTD Direct Evidence: marker/mechanism	PMID:22426308
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astrocytoma	
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:3459	breast carcinoma		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:28492532
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:3565	meningioma		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningioma	PMID:17576681|PMID:28492532|PMID:35101336|PMID:9536098
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:4210	clear cell meningioma		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell meningioma	PMID:27993330
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:4362	cervical cancer		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:4586	familial meningioma		ISO	RGD:1313743	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to | ClinVar Annotator: match by term: familial meningioma	PMID:16199547|PMID:17576681|PMID:23377182|PMID:23556151|PMID:23929686|PMID:25143307|PMID:25169753|PMID:25741868|PMID:26803492|PMID:27264197|PMID:27891692|PMID:28474749|PMID:28492532|PMID:29625052|PMID:31675646|PMID:33020650|PMID:34918830|PMID:35681054|PMID:35980532|PMID:37164167|PMID:37350193|PMID:37500730|PMID:9536098
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:4586	familial meningioma	susceptibility	ISO	RGD:1313743	D	RGD:7240710	20260722	OMIM			
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:480	movement disease		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:630	genetic disease		ISO	RGD:1313743	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313743	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:17576681|PMID:23377182|PMID:25143307|PMID:25168959|PMID:25169753|PMID:25741868|PMID:26803492|PMID:27891692|PMID:28492532|PMID:29625052|PMID:30209809|PMID:9536098
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313743	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:17576681|PMID:23377182|PMID:25143307|PMID:25168959|PMID:25169753|PMID:25741868|PMID:26803492|PMID:27891692|PMID:28492532|PMID:29625052|PMID:30209809|PMID:35980532|PMID:37500730|PMID:9536098
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313743	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:17576681|PMID:23377182|PMID:25143307|PMID:25169753|PMID:25741868|PMID:26803492|PMID:27891692|PMID:28492532|PMID:29625052|PMID:30209809|PMID:35980532|PMID:37500730|PMID:9536098
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313743	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17576681|PMID:23377182|PMID:25143307|PMID:25169753|PMID:25741868|PMID:26803492|PMID:28492532|PMID:30209809|PMID:33651299|PMID:35980532|PMID:37500730|PMID:9536098
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9007722	Myoclonus		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9009047	Laryngeal Cleft		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Laryngeal cleft	PMID:25741868
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
8699819	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9834	hyperopia		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
8699839	Six1	SIX homeobox 1	gene	DOID:0050564	autosomal dominant nonsyndromic deafness		ISO	RGD:731648	D	RGD:8554872	20240820	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss	PMID:25741868
8699839	Six1	SIX homeobox 1	gene	DOID:0060232	branchiootic syndrome		ISO	RGD:731648	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Branchiootic dysplasia | ClinVar Annotator: match by term: Branchiootic syndrome	PMID:12843324|PMID:15141091|PMID:16652090|PMID:19497856|PMID:21254961|PMID:21280147|PMID:21745464|PMID:24033266|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386|PMID:31980437|PMID:34440452|PMID:39498320
8699839	Six1	SIX homeobox 1	gene	DOID:0061209	branchiootic syndrome 1		ISO	RGD:731648	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BO syndrome 1	PMID:12843324|PMID:15141091|PMID:16652090|PMID:19497856|PMID:21254961|PMID:21280147|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34440452
8699839	Six1	SIX homeobox 1	gene	DOID:0061210	branchiootic syndrome 3		ISO	RGD:731648	D	RGD:7240710	20180130	OMIM			
8699839	Six1	SIX homeobox 1	gene	DOID:0061210	branchiootic syndrome 3		ISO	RGD:731648	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: BO SYNDROME 3 | ClinVar Annotator: match by term: BRANCHIOOTIC SYNDROME 3 | ClinVar Annotator: match by term: Branchiootic syndrome 3 | ClinVar Annotator: match by term: SIX1-related condition	PMID:10777717|PMID:12843324|PMID:15141091|PMID:16652090|PMID:16971658|PMID:18330911|PMID:19497856|PMID:21254961|PMID:21280147|PMID:21700001|PMID:21745464|PMID:23435380|PMID:24033266|PMID:24164807|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386|PMID:31980437|PMID:34440452|PMID:34868248|PMID:34906515|PMID:35802133|PMID:36633841|PMID:37479820|PMID:39498320
8699839	Six1	SIX homeobox 1	gene	DOID:0110553	autosomal dominant nonsyndromic deafness 23		ISO	RGD:731648	D	RGD:7240710	20180130	OMIM			
8699839	Six1	SIX homeobox 1	gene	DOID:0110553	autosomal dominant nonsyndromic deafness 23		ISO	RGD:731648	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 23	PMID:10777717|PMID:12843324|PMID:15141091|PMID:16652090|PMID:16971658|PMID:18330911|PMID:19497856|PMID:21254961|PMID:21280147|PMID:21700001|PMID:21745464|PMID:23435380|PMID:24033266|PMID:24164807|PMID:25741868|PMID:25788563|PMID:28492532|PMID:28566479|PMID:30311386|PMID:31980437|PMID:34440452|PMID:34906515|PMID:35802133|PMID:36633841|PMID:37479820|PMID:39498320
8699839	Six1	SIX homeobox 1	gene	DOID:0111423	branchiootorenal syndrome 1		ISO	RGD:731648	D	RGD:8554872	20250723	ClinVar		ClinVar Annotator: match by term: Branchiootorenal Syndrome 1 | ClinVar Annotator: match by term: Branchiootorenal syndrome 1	PMID:12843324|PMID:15141091|PMID:16652090|PMID:19497856|PMID:21254961|PMID:21280147|PMID:25326635|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386
8699839	Six1	SIX homeobox 1	gene	DOID:0111423	branchiootorenal syndrome 1		ISO	RGD:731648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Branchiootorenal Syndrome 1 | ClinVar Annotator: match by term: Branchiootorenal syndrome 1	PMID:12843324|PMID:15141091|PMID:16652090|PMID:19497856|PMID:21254961|PMID:21280147|PMID:21745464|PMID:24033266|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386|PMID:31980437|PMID:39498320
8699839	Six1	SIX homeobox 1	gene	DOID:14702	branchiootorenal syndrome		ISO	RGD:11603118|RGD:11612534|RGD:11612636|RGD:11621632|RGD:11649467|RGD:11650490	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Branchiootorenal Spectrum Disorders | ClinVar Annotator: match by term: Melnick-Fraser syndrome	
8699839	Six1	SIX homeobox 1	gene	DOID:14702	branchiootorenal syndrome		ISO	RGD:1550080	D	RGD:9068941	20260604	MouseDO		OMIM:113650 | OMIM:610896	
8699839	Six1	SIX homeobox 1	gene	DOID:14702	branchiootorenal syndrome		ISO	RGD:1550080	D	RGD:9068941	20260604	RGD		DNA:mutation:cds:p.E121G(mouse)	PMID:19389353|REF_RGD_ID:8554879
8699839	Six1	SIX homeobox 1	gene	DOID:14702	branchiootorenal syndrome		ISO	RGD:731648	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	
8699839	Six1	SIX homeobox 1	gene	DOID:14702	branchiootorenal syndrome		ISO	RGD:731648	D	RGD:9068941	20260604	RGD		DNA:missense mutations, snp:cds, intron:p.Y129C, p.P249L, c.560+3A>T (human)	PMID:21280147|REF_RGD_ID:11064057
8699839	Six1	SIX homeobox 1	gene	DOID:14702	branchiootorenal syndrome		ISO	RGD:731648	D	RGD:9068941	20260604	RGD		DNA:missense mutations,deletion:A386G(Y129C),C328T(R110W),397_399delGGA(E133del)(human)	PMID:15141091|REF_RGD_ID:8554876
8699839	Six1	SIX homeobox 1	gene	DOID:14702	branchiootorenal syndrome		ISO	RGD:731648	D	RGD:9068941	20260604	RGD		DNA:mutation:cds:c.364T>A (p.W122R)(human)	PMID:17637804|REF_RGD_ID:8554880
8699839	Six1	SIX homeobox 1	gene	DOID:14702	branchiootorenal syndrome		ISO	RGD:731648	D	RGD:9068941	20260604	RGD		DNA:mutations:cds:c.50T>A, c.218A>C, c.317T>G, c.329G>A, c.334C>T (human)	PMID:18330911|REF_RGD_ID:8554882
8699839	Six1	SIX homeobox 1	gene	DOID:1612	breast cancer	severity	ISO	RGD:731648	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast epithelium (human)	PMID:9770533|REF_RGD_ID:11561960
8699839	Six1	SIX homeobox 1	gene	DOID:2154	nephroblastoma		ISO	RGD:731648	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
8699839	Six1	SIX homeobox 1	gene	DOID:2154	nephroblastoma	severity	ISO	RGD:731648	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.Q177R (human)	PMID:25670083|REF_RGD_ID:11561953
8699839	Six1	SIX homeobox 1	gene	DOID:2154	nephroblastoma	severity	ISO	RGD:731648	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney, blastema (human)	PMID:22180226|REF_RGD_ID:11561963
8699839	Six1	SIX homeobox 1	gene	DOID:3192	neurilemmoma		ISO	RGD:731648	D	RGD:9068941	20200609	RGD		mRNA:increased expression:Schwann cell (human)	PMID:19901965|REF_RGD_ID:11561959
8699839	Six1	SIX homeobox 1	gene	DOID:4001	ovarian carcinoma	severity	ISO	RGD:731648	D	RGD:9068941	20200609	RGD		mRNA:increased expression:female gonad (human)	PMID:17409410|REF_RGD_ID:11561962
8699839	Six1	SIX homeobox 1	gene	DOID:4362	cervical cancer		ISO	RGD:731648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8699839	Six1	SIX homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8699839	Six1	SIX homeobox 1	gene	DOID:630	genetic disease		ISO	RGD:731648	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12843324|PMID:15141091|PMID:16652090|PMID:19497856|PMID:21254961|PMID:21280147|PMID:21745464|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386|PMID:31980437|PMID:34906515|PMID:39498320
8699839	Six1	SIX homeobox 1	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:731648	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (human)	PMID:17008870|REF_RGD_ID:11561961
8699839	Six1	SIX homeobox 1	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1550080	D	RGD:9068941	20200609	RGD			PMID:21385574|REF_RGD_ID:11561981
8699839	Six1	SIX homeobox 1	gene	DOID:9000096	Lung Agenesis		ISO	RGD:620906	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:lung epithelium:	PMID:24528972|REF_RGD_ID:8554873
8699839	Six1	SIX homeobox 1	gene	DOID:9000096	Lung Agenesis		ISO	RGD:731648	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung (rat)	PMID:24528972|REF_RGD_ID:8554873
8699839	Six1	SIX homeobox 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:731648	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:23435380|REF_RGD_ID:11561950
8699839	Six1	SIX homeobox 1	gene	DOID:9001460	22q11 Deletion Syndrome		ISO	RGD:1550080	D	RGD:9068941	20200609	RGD			PMID:21364285|REF_RGD_ID:11561941
8699839	Six1	SIX homeobox 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:731648	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss	PMID:10777717|PMID:12843324|PMID:15141091|PMID:16652090|PMID:19497856|PMID:21254961|PMID:21280147|PMID:21700001|PMID:21745464|PMID:23435380|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386|PMID:31980437|PMID:34906515|PMID:35802133|PMID:36633841|PMID:37479820|PMID:39498320
8699839	Six1	SIX homeobox 1	gene	DOID:9005835	Congenital Abnormalities		ISO	RGD:1550080	D	RGD:9068941	20200609	RGD			PMID:12834866|REF_RGD_ID:8554898
8699839	Six1	SIX homeobox 1	gene	DOID:9005835	Congenital Abnormalities		ISO	RGD:731648	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12834866
8699839	Six1	SIX homeobox 1	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:731648	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27259717
8699839	Six1	SIX homeobox 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:731648	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12834866
8699839	Six1	SIX homeobox 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8699845	Prodh2	proline dehydrogenase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8699845	Prodh2	proline dehydrogenase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8699845	Prodh2	proline dehydrogenase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8699845	Prodh2	proline dehydrogenase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315565	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8699845	Prodh2	proline dehydrogenase 2	gene	DOID:9008769	Hydroxyprolinemia		ISO	RGD:1315565	D	RGD:7240710	20260701	OMIM			
8699863	Pla2g4f	phospholipase A2 group IVF	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8699863	Pla2g4f	phospholipase A2 group IVF	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8699863	Pla2g4f	phospholipase A2 group IVF	gene	DOID:1324	lung cancer		ISO	RGD:1606120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8699863	Pla2g4f	phospholipase A2 group IVF	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8699863	Pla2g4f	phospholipase A2 group IVF	gene	DOID:3275	thymoma		ISO	RGD:1606120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8699863	Pla2g4f	phospholipase A2 group IVF	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8699863	Pla2g4f	phospholipase A2 group IVF	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8699863	Pla2g4f	phospholipase A2 group IVF	gene	DOID:5041	esophageal cancer		ISO	RGD:1606120	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8699863	Pla2g4f	phospholipase A2 group IVF	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8699863	Pla2g4f	phospholipase A2 group IVF	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8699863	Pla2g4f	phospholipase A2 group IVF	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8699863	Pla2g4f	phospholipase A2 group IVF	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8699863	Pla2g4f	phospholipase A2 group IVF	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8699863	Pla2g4f	phospholipase A2 group IVF	gene	DOID:9256	colorectal cancer		ISO	RGD:1606120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8699890	Ssu72	SSU72 homolog, RNA polymerase II CTD phosphatase	gene	DOID:0110944	autosomal recessive osteopetrosis 4		ISO	RGD:1605688	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: autosomal recessive osteopetrosis 4	PMID:25741868
8699890	Ssu72	SSU72 homolog, RNA polymerase II CTD phosphatase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8699890	Ssu72	SSU72 homolog, RNA polymerase II CTD phosphatase	gene	DOID:1115	sarcoma		ISO	RGD:1605688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8699890	Ssu72	SSU72 homolog, RNA polymerase II CTD phosphatase	gene	DOID:409	liver disease		ISO	RGD:1552892	D	RGD:9068941	20240530	MouseDO			
8699890	Ssu72	SSU72 homolog, RNA polymerase II CTD phosphatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8699890	Ssu72	SSU72 homolog, RNA polymerase II CTD phosphatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:0050117	disease by infectious agent		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:14506246|PMID:1692038|PMID:18523805|PMID:19800078|PMID:21938826|PMID:25741868|PMID:28454995|PMID:28492532|PMID:9582344
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:0070309	absence epilepsy		ISO	RGD:732202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868|PMID:27051597|PMID:27938594|PMID:28492532|PMID:32710939|PMID:33895855
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:0080154	short chain acyl-CoA dehydrogenase deficiency		ISO	RGD:732202	D	RGD:7240710	20180130	OMIM			
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:0080154	short chain acyl-CoA dehydrogenase deficiency		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ACADS-related condition | ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase | ClinVar Annotator: match by term: SCAD DEFICIENCY | ClinVar Annotator: match by term: SCAD Deficiency | ClinVar Annotator: match by term: short chain acyl-CoA dehydrogenase deficiency	PMID:11134486|PMID:12736383|PMID:12872838|PMID:14506246|PMID:14568186|PMID:14595061|PMID:16199547|PMID:16906473|PMID:1692038|PMID:16926354|PMID:17576681|PMID:18054510|PMID:18523805|PMID:18676165|PMID:18836889|PMID:18951053|PMID:19800078|PMID:20376488|PMID:21170680|PMID:21325261|PMID:21483766|PMID:21500142|PMID:21938826|PMID:22241096|PMID:22424739|PMID:23155713|PMID:23798014|PMID:24033266|PMID:24485985|PMID:25741868|PMID:26274329|PMID:27051597|PMID:27466294|PMID:27938594|PMID:28018444|PMID:2808706|PMID:28263315|PMID:28374236|PMID:28454995|PMID:28492532|PMID:28532786|PMID:29519241|PMID:29678161|PMID:30035407|PMID:30612563|PMID:30626930|PMID:31620161|PMID:31813752|PMID:31847883|PMID:31980526|PMID:32447334|PMID:32710939|PMID:32778825|PMID:32793418|PMID:32802992|PMID:33391346|PMID:33895855|PMID:34394177|PMID:34869113|PMID:35095998|PMID:35193651|PMID:36207829|PMID:38061323|PMID:38187300|PMID:38784038|PMID:39449356|PMID:9499414|PMID:9536098|PMID:9582344
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:732202	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:18523805|PMID:25741868|PMID:28492532
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:1574	alcohol use disorder	susceptibility	ISO	RGD:732202	D	RGD:9068941	20240229	RGD		DNA:SNP:: (rs1799958) (human)	PMID:20554694|REF_RGD_ID:401976551
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:1596	depressive disorder		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532|PMID:32710939|PMID:32778825
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:1826	epilepsy		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:14506246|PMID:1692038|PMID:18523805|PMID:25741868|PMID:28454995|PMID:28492532|PMID:9582344
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:1969	cerebral palsy		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Athetoid cerebral palsy	PMID:19800078|PMID:21938826|PMID:25741868|PMID:28492532
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:2030	anxiety disorder		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532|PMID:32710939|PMID:32778825
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:3275	thymoma		ISO	RGD:732202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:6000	congestive heart failure		ISO	RGD:732202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30827304
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:630	genetic disease		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:14506246|PMID:1692038|PMID:18523805|PMID:19800078|PMID:21938826|PMID:22241096|PMID:25741868|PMID:28454995|PMID:28492532|PMID:9582344
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:7998	hyperthyroidism		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:19800078|PMID:21938826|PMID:25741868|PMID:28492532|PMID:32710939|PMID:32778825
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:9000351	Diarrhea 9		ISO	RGD:732202	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:14506246|PMID:1692038|PMID:18523805|PMID:25741868|PMID:28454995|PMID:28492532|PMID:9582344
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732202	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:14506246|PMID:1692038|PMID:18523805|PMID:25741868|PMID:28454995|PMID:28492532|PMID:9582344
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:732202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:28492532|PMID:32710939|PMID:32778825
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:19800078|PMID:21938826|PMID:25741868|PMID:28492532
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:9003507	Premature Birth		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:19800078|PMID:21938826|PMID:25741868|PMID:28492532
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:9003760	Myalgia		ISO	RGD:732202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868|PMID:27051597|PMID:27938594|PMID:28492532|PMID:32710939|PMID:33895855
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:9005532	Muscle Weakness		ISO	RGD:732202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:27051597|PMID:27938594|PMID:28492532|PMID:32710939|PMID:33895855
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732202	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:19800078|PMID:25741868|PMID:28492532|PMID:32710939|PMID:32778825
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:19800078|PMID:21938826|PMID:25741868|PMID:28492532|PMID:32710939|PMID:32778825
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:9008023	Memory Disorders		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:19800078|PMID:21938826|PMID:25741868|PMID:28492532|PMID:32710939|PMID:32778825
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732202	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:14506246|PMID:1692038|PMID:18523805|PMID:25741868|PMID:28454995|PMID:28492532|PMID:9582344
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732202	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Type II diabetes mellitus	PMID:18523805|PMID:25741868|PMID:28492532
8699899	Acads	acyl-CoA dehydrogenase short chain	gene	DOID:936	brain disease		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:19800078|PMID:21938826|PMID:25741868|PMID:28492532
8699912	Fads2	fatty acid desaturase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8699912	Fads2	fatty acid desaturase 2	gene	DOID:12930	dilated cardiomyopathy	treatment	ISO	RGD:68475	D	RGD:9068941	20231207	RGD			PMID:24284026|REF_RGD_ID:401901245
8699912	Fads2	fatty acid desaturase 2	gene	DOID:1324	lung cancer		ISO	RGD:68475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8699912	Fads2	fatty acid desaturase 2	gene	DOID:1909	melanoma		ISO	RGD:68475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8699912	Fads2	fatty acid desaturase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:68475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8699912	Fads2	fatty acid desaturase 2	gene	DOID:3312	bipolar disorder		ISO	RGD:68475	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
8699912	Fads2	fatty acid desaturase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:68475	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8699912	Fads2	fatty acid desaturase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8699912	Fads2	fatty acid desaturase 2	gene	DOID:5804	discrete subaortic stenosis	treatment	ISO	RGD:68339	D	RGD:9068941	20231207	RGD		associated with Left Ventricular Hypertrophy, Cardiac Fibrosis	PMID:24284026|REF_RGD_ID:401901245
8699912	Fads2	fatty acid desaturase 2	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:68339	D	RGD:9068941	20231207	RGD		associated with Left Ventricular Hypertrophy, Cardiac Fibrosis	PMID:24284026|REF_RGD_ID:401901245
8699912	Fads2	fatty acid desaturase 2	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:68339	D	RGD:9068941	20231214	RGD			PMID:22796714|REF_RGD_ID:401901592
8699912	Fads2	fatty acid desaturase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:68475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8699912	Fads2	fatty acid desaturase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8699912	Fads2	fatty acid desaturase 2	gene	DOID:9003139	Cardiac Fibrosis	treatment	ISO	RGD:68339	D	RGD:9068941	20231214	RGD			PMID:22796714|PMID:24284026|REF_RGD_ID:401901245|REF_RGD_ID:401901592
8699912	Fads2	fatty acid desaturase 2	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:68339	D	RGD:9068941	20231207	RGD			PMID:24284026|REF_RGD_ID:401901245
8699912	Fads2	fatty acid desaturase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8699912	Fads2	fatty acid desaturase 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:68475	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8699912	Fads2	fatty acid desaturase 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:68475	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24836286
8699912	Fads2	fatty acid desaturase 2	gene	DOID:9455	lipid storage disease		ISO	RGD:68475	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21123845
8699912	Fads2	fatty acid desaturase 2	gene	DOID:9744	type 1 diabetes mellitus	treatment	ISO	RGD:68339	D	RGD:9068941	20231202	RGD		associated with hypertension	PMID:15589689|REF_RGD_ID:401901188
8699929	Utp25	UTP25 small subunit processome component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8699929	Utp25	UTP25 small subunit processome component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8699929	Utp25	UTP25 small subunit processome component	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1604367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25007945
8699929	Utp25	UTP25 small subunit processome component	gene	DOID:10534	stomach cancer		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8699929	Utp25	UTP25 small subunit processome component	gene	DOID:2394	ovarian cancer		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8699929	Utp25	UTP25 small subunit processome component	gene	DOID:4362	cervical cancer		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8699929	Utp25	UTP25 small subunit processome component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8699929	Utp25	UTP25 small subunit processome component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8699929	Utp25	UTP25 small subunit processome component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8699929	Utp25	UTP25 small subunit processome component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8699929	Utp25	UTP25 small subunit processome component	gene	DOID:9256	colorectal cancer		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8699973	Adcy10	adenylate cyclase 10	gene	DOID:10534	stomach cancer		ISO	RGD:737484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8699973	Adcy10	adenylate cyclase 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8699973	Adcy10	adenylate cyclase 10	gene	DOID:1115	sarcoma		ISO	RGD:737484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8699973	Adcy10	adenylate cyclase 10	gene	DOID:1909	melanoma		ISO	RGD:737484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8699973	Adcy10	adenylate cyclase 10	gene	DOID:3275	thymoma		ISO	RGD:737484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8699973	Adcy10	adenylate cyclase 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8699973	Adcy10	adenylate cyclase 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8699973	Adcy10	adenylate cyclase 10	gene	DOID:5041	esophageal cancer		ISO	RGD:737484	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8699973	Adcy10	adenylate cyclase 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8699973	Adcy10	adenylate cyclase 10	gene	DOID:9003936	Cardiomegaly	ameliorates	ISO	RGD:737485	D	RGD:9068941	20230429	RGD			PMID:29466442|REF_RGD_ID:329337358
8699973	Adcy10	adenylate cyclase 10	gene	DOID:9005047	Hypercalciuria, Absorptive, 2		ISO	RGD:737484	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADCY10-related condition | ClinVar Annotator: match by term: Familial idiopathic hypercalciuria | ClinVar Annotator: match by term: HYPERCALCIURIA, ABSORPTIVE, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hypercalciuria, absorptive, susceptibility to	PMID:25741868|PMID:28492532|PMID:31119281
8699973	Adcy10	adenylate cyclase 10	gene	DOID:9005047	Hypercalciuria, Absorptive, 2	susceptibility	ISO	RGD:737484	D	RGD:7240710	20190502	OMIM			
8699973	Adcy10	adenylate cyclase 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8699973	Adcy10	adenylate cyclase 10	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:708450	D	RGD:9068941	20230504	RGD		protein:decreased expression:retina	PMID:22649251|REF_RGD_ID:329347828
8699973	Adcy10	adenylate cyclase 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8700011	Dctn3	dynactin subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8700011	Dctn3	dynactin subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1319944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8700011	Dctn3	dynactin subunit 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8700011	Dctn3	dynactin subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1319944	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8700011	Dctn3	dynactin subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8700066	Ubl3	ubiquitin like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8700066	Ubl3	ubiquitin like 3	gene	DOID:1115	sarcoma		ISO	RGD:1313456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8700066	Ubl3	ubiquitin like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0050451	Brugada syndrome		ISO	RGD:10268	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:20817017|PMID:25260352|PMID:25741868|PMID:28492532|PMID:30172029|PMID:30662450|PMID:34163037|PMID:36007726
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0050562	West syndrome		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:10268	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:23861362|PMID:25184293|PMID:25741868|PMID:26230511|PMID:26386135|PMID:27502440|PMID:28492532|PMID:29046645|PMID:30345660
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0050741	alcohol dependence		ISO	RGD:2245	D	RGD:9068941	20220609	RGD		mRNA, protein:increased expression:amygdala, hippocampus (rat)	PMID:27905406|REF_RGD_ID:152985537
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0050741	alcohol dependence		ISO	RGD:2245	D	RGD:9068941	20220609	RGD		protein:increased expression:inferior colliculus (human)	PMID:25556199|REF_RGD_ID:152985539
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0050793	short QT syndrome		ISO	RGD:8640341	D	RGD:9068941	20260521	ClinVar		ClinVar Annotator: match by term: Short QT syndrome	PMID:20031608|PMID:20817017|PMID:22840528|PMID:23861362|PMID:25447171|PMID:25633834|PMID:28492532
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:10268	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders	PMID:25741868|PMID:28492532
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0060173	Timothy syndrome		ISO	RGD:10268	D	RGD:7240710	20180130	OMIM			
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0060173	Timothy syndrome		ISO	RGD:10268	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1	PMID:10343407|PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20543828|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22020278|PMID:22106044|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26637798|PMID:26822303|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29568937|PMID:29915097|PMID:30023270|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30471092|PMID:30513141|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32461654|PMID:32625235|PMID:33488405|PMID:34163037|PMID:34222376|PMID:36474027|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0060173	Timothy syndrome		ISO	RGD:10268	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: Long QT syndrome with syndactyly | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1	PMID:10343407|PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20543828|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22020278|PMID:22106044|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26637798|PMID:26822303|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29568937|PMID:29915097|PMID:30023270|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30471092|PMID:30513141|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32461654|PMID:32625235|PMID:33488405|PMID:34163037|PMID:34222376|PMID:34999275|PMID:36007726|PMID:36474027|PMID:37901857|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0060173	Timothy syndrome		ISO	RGD:10268	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CACNA1C-Related Disorder | ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: LONG QT SYNDROME WITH SYNDACTYLY | ClinVar Annotator: match by term: Long QT syndrome with syndactyly | ClinVar Annotator: match by term: TIMOTHY SYNDROME | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1	PMID:10343407|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:20543828|PMID:20817017|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22020278|PMID:22106044|PMID:22990809|PMID:23313911|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24773605|PMID:25260352|PMID:25500949|PMID:25633834|PMID:25691416|PMID:25741868|PMID:26227324|PMID:26253506|PMID:26301350|PMID:26637798|PMID:26822303|PMID:27593853|PMID:27868338|PMID:27925203|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28600387|PMID:29071820|PMID:30025578|PMID:30172029|PMID:30345660|PMID:30513141|PMID:30662450|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31408100|PMID:31430211|PMID:32161207|PMID:32233023|PMID:33488405|PMID:33797204|PMID:34163037|PMID:34495297|PMID:35862440|PMID:36007726|PMID:37227348|PMID:38254962
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0060249	scoliosis		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0060305	megalocornea		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megalocornea	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0070514	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies		ISO	RGD:10268	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	PMID:25741868
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures		ISO	RGD:10268	D	RGD:7240710	20221214	OMIM			
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures		ISO	RGD:10268	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | ClinVar Annotator: match by term: neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:21878566|PMID:21910241|PMID:23313911|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:25260352|PMID:25741868|PMID:26227324|PMID:26822303|PMID:27593853|PMID:27868338|PMID:28211989|PMID:28371864|PMID:28492532|PMID:32233023|PMID:34163037
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0080454	developmental and epileptic encephalopathy 42		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42	PMID:25741868
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0110220	Brugada syndrome 3		ISO	RGD:10268	D	RGD:7240710	20180130	OMIM			
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0110220	Brugada syndrome 3		ISO	RGD:10268	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BRUGADA SYNDROME 3 | ClinVar Annotator: match by term: Brugada syndrome 3	PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:20817017|PMID:21878566|PMID:21910241|PMID:22385640|PMID:22990809|PMID:23313911|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:23861362|PMID:25500949|PMID:25741868|PMID:26227324|PMID:26301350|PMID:26637798|PMID:26822303|PMID:27593853|PMID:27868338|PMID:27925203|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28600387|PMID:30345660|PMID:32233023|PMID:33488405|PMID:34495297|PMID:37227348
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:10268	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1	PMID:25741868|PMID:26253506|PMID:28492532|PMID:30025578|PMID:30172029|PMID:31110529|PMID:31408100|PMID:31430211|PMID:32161207
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:10268	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:21685391|PMID:21878566|PMID:21910241|PMID:23313911|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:25741868|PMID:26227324|PMID:26822303|PMID:27593853|PMID:27868338|PMID:28211989|PMID:28371864|PMID:28492532|PMID:32161207
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0110649	long QT syndrome 8		ISO	RGD:10268	D	RGD:7240710	20240228	OMIM			
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0110649	long QT syndrome 8		ISO	RGD:10268	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LONG QT SYNDROME 8 | ClinVar Annotator: match by term: Long QT syndrome 8 | ClinVar Annotator: match by term: Long qt syndrome 8	PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:20817017|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22990809|PMID:23174487|PMID:23313911|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24728418|PMID:24773605|PMID:25260352|PMID:25500949|PMID:25691416|PMID:25741868|PMID:26227324|PMID:26253506|PMID:26301350|PMID:26637798|PMID:26822303|PMID:27593853|PMID:27868338|PMID:27925203|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28600387|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29754768|PMID:30025578|PMID:30172029|PMID:30345660|PMID:30530868|PMID:30662450|PMID:31110529|PMID:31408100|PMID:31430211|PMID:31729605|PMID:32161207|PMID:32233023|PMID:33488405|PMID:34163037|PMID:34495297|PMID:35885997|PMID:36007726|PMID:37227348|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:1059	intellectual disability		ISO	RGD:10268	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities	PMID:25741868|PMID:28492532|PMID:34163037
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:1059	intellectual disability		ISO	RGD:10268	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual deficiency | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1550302	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:23403102|REF_RGD_ID:13782264
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:10763	hypertension		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22949532
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:10907	microcephaly		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:1115	sarcoma		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:1143	exotropia		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:10268	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:20817017|PMID:22840528|PMID:23861362|PMID:24439875|PMID:25260352|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26498160|PMID:28492532
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:33797204
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:12849	autistic disorder		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15454078
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:13508783	D	RGD:9068941	20260521	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:1324	lung cancer		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:1470	major depressive disorder		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28696432
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:1826	epilepsy		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:28492532|PMID:33818783
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2030	anxiety disorder		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28696432
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2055	post-traumatic stress disorder		ISO	RGD:10268	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Post-traumatic stress disorder	PMID:32332995
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12166659|PMID:15454078|PMID:15863612|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23414114|PMID:23575362|PMID:23631430|PMID:23677916|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26230511|PMID:26253506|PMID:26386135|PMID:26498160|PMID:26743238|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27662471|PMID:27711072|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28166811|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29568937|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30530868|PMID:30847666|PMID:31130284|PMID:31408100|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:33488405|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:2547171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26743238|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29396286|PMID:29568937|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:33488405|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26743238|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:33488405|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27854218|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26076356|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26076356|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:34999275|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:34999275|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:34222376|PMID:34999275|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27854218|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:34222376|PMID:34999275|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34999275|PMID:36436328|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24773605|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:32461654|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34999275|PMID:35205252|PMID:36436328|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24773605|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:32461654|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34999275|PMID:35205252|PMID:36436328|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24773605|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28493952|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:32461654|PMID:32625235|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34999275|PMID:35205252|PMID:36436328|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24773605|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28493952|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30471092|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:32461654|PMID:32625235|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34999275|PMID:35205252|PMID:36436328|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24773605|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27580036|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28493952|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30471092|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31130284|PMID:31293105|PMID:31335548|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:32461654|PMID:32625235|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34999275|PMID:35205252|PMID:36007726|PMID:36436328|PMID:37901857|PMID:38849547|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:19687230|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22677788|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24773605|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27580036|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28493952|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30471092|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31130284|PMID:31293105|PMID:31335548|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:32461654|PMID:32625235|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34495297|PMID:34999275|PMID:35205252|PMID:36007726|PMID:36436328|PMID:37227348|PMID:37901857|PMID:38849547|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:12166659|PMID:15358028|PMID:15454078|PMID:15856146|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:19687230|PMID:19808356|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22677788|PMID:22840528|PMID:22857948|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23396983|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24704860|PMID:24728418|PMID:24773605|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27532257|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28493952|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30297972|PMID:30345660|PMID:30369311|PMID:30471092|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31335548|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:32461654|PMID:32625235|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34495297|PMID:34999275|PMID:35205252|PMID:36007726|PMID:36436328|PMID:37227348|PMID:37901857|PMID:38849547|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:19687230|PMID:20031608|PMID:20817017|PMID:21270786|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22677788|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24773605|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:27981572|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28493952|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30369311|PMID:30471092|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31335548|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:32461654|PMID:32625235|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34495297|PMID:34999275|PMID:35205252|PMID:36007726|PMID:36436328|PMID:37227348|PMID:37901857|PMID:38849547|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:19687230|PMID:20031608|PMID:20817017|PMID:21270786|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22677788|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24728418|PMID:24773605|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27231019|PMID:27593853|PMID:27711072|PMID:27868338|PMID:27920829|PMID:27925203|PMID:27930701|PMID:27981572|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30345660|PMID:30369311|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32461654|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34495297|PMID:34999275|PMID:35205252|PMID:36007726|PMID:36436328|PMID:37227348|PMID:37901857|PMID:38849547|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19687230|PMID:20031608|PMID:20817017|PMID:21270786|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22677788|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24321233|PMID:24728418|PMID:24773605|PMID:25260352|PMID:25341504|PMID:25500949|PMID:25633834|PMID:25640679|PMID:25691416|PMID:25741868|PMID:26220970|PMID:26227324|PMID:26253506|PMID:26301350|PMID:26551885|PMID:26637798|PMID:26822303|PMID:27593853|PMID:27711072|PMID:27868338|PMID:27925203|PMID:27930701|PMID:27981572|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28600387|PMID:28878402|PMID:29016939|PMID:29247119|PMID:29568937|PMID:29754768|PMID:30025578|PMID:30067485|PMID:30172029|PMID:30345660|PMID:30369311|PMID:30662450|PMID:30847666|PMID:31110529|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31737537|PMID:32161207|PMID:32233023|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34495297|PMID:34999275|PMID:35205252|PMID:35885997|PMID:36007726|PMID:36436328|PMID:37227348|PMID:38849547|PMID:40526200|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19687230|PMID:20031608|PMID:20817017|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22677788|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24321233|PMID:24728418|PMID:24773605|PMID:25260352|PMID:25341504|PMID:25500949|PMID:25633834|PMID:25640679|PMID:25691416|PMID:25741868|PMID:26220970|PMID:26227324|PMID:26253506|PMID:26301350|PMID:26551885|PMID:26637798|PMID:26822303|PMID:27593853|PMID:27711072|PMID:27868338|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28600387|PMID:28878402|PMID:29016939|PMID:29247119|PMID:29568937|PMID:29754768|PMID:30025578|PMID:30067485|PMID:30172029|PMID:30345660|PMID:30369311|PMID:30662450|PMID:30847666|PMID:31110529|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31737537|PMID:32161207|PMID:32233023|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34495297|PMID:34999275|PMID:35205252|PMID:35885997|PMID:36007726|PMID:36436328|PMID:37227348|PMID:38849547|PMID:40526200|PMID:9536098
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:3275	thymoma		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:3312	bipolar disorder		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18711365|PMID:21926972|PMID:21926974|PMID:31043756
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:25741868|PMID:28492532|PMID:32233023
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:4362	cervical cancer		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:4621	holoprosencephaly		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alobar holoprosencephaly	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:5041	esophageal cancer		ISO	RGD:10268	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:5723	optic atrophy		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:6000	congestive heart failure		ISO	RGD:10268	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congestive heart failure	PMID:25741868|PMID:28492532
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:6088	acute stress disorder		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28696432
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15454078
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:630	genetic disease		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:8488	polyhydramnios		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:10268	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:26253506|PMID:28492532|PMID:30025578|PMID:30172029|PMID:31110529|PMID:31408100|PMID:31430211|PMID:32161207
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9000096	Lung Agenesis		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28696432
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9000495	Tremor		ISO	RGD:10268	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intention tremor	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9001366	Psychomotor Agitation		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28696432
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9001581	Constipation		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:2245	D	RGD:9068941	20220609	RGD		protein:decreased expression:pancreas (rat)	PMID:20873977|REF_RGD_ID:152985538
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9002720	Splenomegaly		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28696432
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9002919	Sudden Unexpected Nocturnal Death Syndrome		ISO	RGD:10268	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome	PMID:28492532
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9003132	Sialorrhea		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9003137	Photophobia		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Photophobia	PMID:25741868
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9003163	Heart Block		ISO	RGD:10268	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Conduction disorder of the heart	PMID:25741868
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9003703	Coxa Valga		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coxa valga	PMID:25741868
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9004730	Romano-Ward Syndrome		ISO	RGD:10268	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:21685391|PMID:21878566|PMID:21910241|PMID:23313911|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:25741868|PMID:26227324|PMID:26822303|PMID:27593853|PMID:27868338|PMID:28211989|PMID:28371864|PMID:28492532|PMID:32161207
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9004934	BILATERAL CLEFT LIP		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cleft lip	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:25741868
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9005077	Joint Instability		ISO	RGD:10268	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:25741868|PMID:28492532|PMID:29396561
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9005466	Language Development Disorders		ISO	RGD:10268	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Expressive language delay	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9006294	Congenital Limb Deformities		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15454078
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9007033	Ventricular Premature Complexes		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ventricular contraction	PMID:25741868
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:10268	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Sudden cardiac death	PMID:25741868|PMID:28492532
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9120	amyloidosis		ISO	RGD:10268	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amyloidosis	PMID:25741868|PMID:28492532
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:930	orbital disease		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	
8700081	Cacna1c	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9993	hypoglycemia		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15454078
8700144	Ccdc198	coiled-coil domain containing 198	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8700144	Ccdc198	coiled-coil domain containing 198	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8700157	Brdt	bromodomain testis associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8700157	Brdt	bromodomain testis associated	gene	DOID:0070163	spermatogenic failure 21		ISO	RGD:1315431	D	RGD:7240710	20190315	OMIM			
8700157	Brdt	bromodomain testis associated	gene	DOID:0070163	spermatogenic failure 21		ISO	RGD:1315431	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BRDT-related condition | ClinVar Annotator: match by term: Spermatogenic failure 21 | ClinVar Annotator: match by term: spermatogenic failure 21	PMID:25741868
8700157	Brdt	bromodomain testis associated	gene	DOID:1324	lung cancer		ISO	RGD:1315431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8700157	Brdt	bromodomain testis associated	gene	DOID:14227	azoospermia		ISO	RGD:1315431	D	RGD:9068941	20200609	RGD		protein:decreased expression:testis:	PMID:22035730|REF_RGD_ID:9586359
8700157	Brdt	bromodomain testis associated	gene	DOID:14227	azoospermia	susceptibility	ISO	RGD:1315431	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs3088232(human)	PMID:22016351|REF_RGD_ID:9586360
8700157	Brdt	bromodomain testis associated	gene	DOID:14228	oligospermia	susceptibility	ISO	RGD:1315431	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs3088232(human)	PMID:22016351|REF_RGD_ID:9586360
8700157	Brdt	bromodomain testis associated	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8700157	Brdt	bromodomain testis associated	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1315431	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
8700157	Brdt	bromodomain testis associated	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8700157	Brdt	bromodomain testis associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8700190	Opn1sw	opsin 1, short wave sensitive	gene	DOID:0060224	atrial fibrillation		ISO	RGD:736424	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
8700190	Opn1sw	opsin 1, short wave sensitive	gene	DOID:1115	sarcoma		ISO	RGD:736424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8700190	Opn1sw	opsin 1, short wave sensitive	gene	DOID:11661	blue color blindness		ISO	RGD:736424	D	RGD:7240710	20180130	OMIM			
8700190	Opn1sw	opsin 1, short wave sensitive	gene	DOID:11661	blue color blindness		ISO	RGD:736424	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OPN1SW-related condition | ClinVar Annotator: match by term: TRITANOPIA	PMID:1386496|PMID:1531728|PMID:25741868|PMID:28492532|PMID:31816670
8700190	Opn1sw	opsin 1, short wave sensitive	gene	DOID:7998	hyperthyroidism		ISO	RGD:736424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
8700190	Opn1sw	opsin 1, short wave sensitive	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:736424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
8700199	Clta	clathrin light chain A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8700199	Clta	clathrin light chain A	gene	DOID:0080600	COVID-19		ISO	RGD:733774	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8700199	Clta	clathrin light chain A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8700199	Clta	clathrin light chain A	gene	DOID:4362	cervical cancer		ISO	RGD:733774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8700199	Clta	clathrin light chain A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8700199	Clta	clathrin light chain A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8700207	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
8700207	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:25741868|PMID:28492532|PMID:29068549|PMID:29241935|PMID:36268591|PMID:36653407
8700207	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:1342520	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:24183449|PMID:24183451|PMID:28492532
8700207	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:0110087	asphyxiating thoracic dystrophy 3		ISO	RGD:1342520	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3	
8700207	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:0110095	short-rib thoracic dysplasia 11 with or without polydactyly		ISO	RGD:1342520	D	RGD:7240710	20180130	OMIM			
8700207	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:0110095	short-rib thoracic dysplasia 11 with or without polydactyly		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DYNC2I2-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly	PMID:16199547|PMID:17576681|PMID:24183449|PMID:24183451|PMID:25741868|PMID:28379358|PMID:28492532|PMID:29068549|PMID:29241935|PMID:31130284|PMID:32576942|PMID:36268591|PMID:36653407|PMID:9536098
8700207	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:10534	stomach cancer		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8700207	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:1115	sarcoma		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
8700207	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:1324	lung cancer		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8700207	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:1909	melanoma		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:17576681|PMID:24183451|PMID:25741868|PMID:28492532|PMID:9536098
8700207	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
8700207	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8700207	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:4362	cervical cancer		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8700207	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8700207	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:630	genetic disease		ISO	RGD:1342520	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8700207	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:17576681|PMID:24183451|PMID:25741868|PMID:28492532|PMID:9536098
8700207	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1342520	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
8700207	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8700225	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8700225	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8700225	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:0060058	lymphoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8700225	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8700225	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:10941	intracranial aneurysm	susceptibility	ISO	RGD:1319222	D	RGD:9068941	20200609	RGD		DNA:SNPs:cds:multiple(human)	PMID:30541770|REF_RGD_ID:13831344
8700225	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8700225	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8700225	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8700225	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:3070	high grade glioma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8700225	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:3275	thymoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8700225	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8700225	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8700225	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8700225	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8700225	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1319222	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8700225	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1319222	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
8700225	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8700225	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8700225	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8700225	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8700225	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8700225	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:735373	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:28492532
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:0081268	pulmonary venoocclusive disease 1		ISO	RGD:735373	D	RGD:7240710	20180718	OMIM			
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:0081268	pulmonary venoocclusive disease 1		ISO	RGD:735373	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BMPR2-related condition | ClinVar Annotator: match by term: PULMONARY VENOOCCLUSIVE DISEASE 1 | ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1 | ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1, autosomal dominant	PMID:10903931|PMID:11115378|PMID:11502704|PMID:12446270|PMID:14985116|PMID:15059534|PMID:15146475|PMID:15591269|PMID:16429395|PMID:16717148|PMID:18356561|PMID:18503968|PMID:18626305|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21070126|PMID:21737554|PMID:21801371|PMID:23675998|PMID:24033266|PMID:24292273|PMID:24583436|PMID:24591673|PMID:24936649|PMID:25429696|PMID:25612240|PMID:25688877|PMID:25741868|PMID:26387786|PMID:27002414|PMID:28388887|PMID:28492532|PMID:29718794|PMID:30084161|PMID:30578397|PMID:31727138|PMID:32581362|PMID:33380512|PMID:34426522|PMID:34589526|PMID:34697415
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:1115	sarcoma		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:11613	hyperandrogenism		ISO	RGD:735373	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22825968
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:13374	fibrodysplasia ossificans progressiva		ISO	RGD:735373	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Progressive myositis ossificans	
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:735373	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Idiopathic Pulmonary Hypertension | ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension | ClinVar Annotator: match by term: Primary pulmonary hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated	PMID:10903931|PMID:10973254|PMID:11015450|PMID:11115378|PMID:11502704|PMID:12045205|PMID:12358323|PMID:12821254|PMID:14985116|PMID:15059534|PMID:15146475|PMID:15591269|PMID:15687131|PMID:15775752|PMID:15965979|PMID:16199547|PMID:16429395|PMID:16429403|PMID:16717148|PMID:16728714|PMID:17576681|PMID:18159113|PMID:18321866|PMID:18356561|PMID:18503968|PMID:19324947|PMID:19555857|PMID:20002458|PMID:20095988|PMID:20096498|PMID:20534176|PMID:21737554|PMID:21801371|PMID:21920918|PMID:23298310|PMID:23579436|PMID:23592887|PMID:23675998|PMID:24033266|PMID:24583436|PMID:24591673|PMID:24853021|PMID:24936649|PMID:25187962|PMID:25429696|PMID:25612240|PMID:25640679|PMID:25688877|PMID:25741868|PMID:25917481|PMID:26387786|PMID:26820968|PMID:27002414|PMID:27453251|PMID:27613157|PMID:27630060|PMID:27811071|PMID:27816994|PMID:27884767|PMID:28388887|PMID:28480048|PMID:28492532|PMID:29631995|PMID:29650961|PMID:29718794|PMID:29743074|PMID:29843651|PMID:30029678|PMID:30084161|PMID:30578397|PMID:30679663|PMID:30957726|PMID:31727138|PMID:31797984|PMID:32581362|PMID:32634488|PMID:32966279|PMID:33066286|PMID:33380512|PMID:34400635|PMID:34589526|PMID:34697415|PMID:34966542|PMID:35346192|PMID:9536098
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:1681	heart septal defect		ISO	RGD:735373	D	RGD:9068941	20200609	RGD			PMID:21070126|REF_RGD_ID:5129230
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:2841	asthma		ISO	RGD:735373	D	RGD:9068941	20200609	RGD		protein:decreased expression:bronchus	PMID:18292470|REF_RGD_ID:5129470
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:341	peripheral vascular disease		ISO	RGD:735374	D	RGD:9068941	20200609	RGD			PMID:18723761|REF_RGD_ID:5129473
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:4362	cervical cancer		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:5453	pulmonary venoocclusive disease		ISO	RGD:735373	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:735373	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:18356561|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:735373	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:18356561|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532|PMID:32368696
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:735373	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:18356561|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532|PMID:32368696|PMID:36675162
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28492532|PMID:32368696
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:735373	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:28492532
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:630	genetic disease		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28391780|PMID:28492532
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:735373	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Pulmonary hypertension	PMID:25741868
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:6432	pulmonary hypertension	disease_progression	ISO	RGD:735373	D	RGD:9068941	20200609	RGD		DNA:missense mutations (human)	PMID:19785764|REF_RGD_ID:5129239
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:735373	D	RGD:9068941	20201001	RGD			PMID:21737550|REF_RGD_ID:38500243
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:71082	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dentate gyrus, neuron	PMID:9080432|REF_RGD_ID:5129488
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:735373	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with HIV infection | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease | ClinVar Annotator: match by term: pulmonary arterial hypertension	PMID:10903931|PMID:11115378|PMID:11502704|PMID:12045205|PMID:12821254|PMID:14985116|PMID:15059534|PMID:15146475|PMID:15358693|PMID:15591269|PMID:16199547|PMID:16429395|PMID:16717148|PMID:18503968|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21737554|PMID:21801371|PMID:23579436|PMID:23675998|PMID:24583436|PMID:24591673|PMID:24936649|PMID:25612240|PMID:25688877|PMID:25741868|PMID:26387786|PMID:26645265|PMID:27002414|PMID:28388887|PMID:28480048|PMID:28492532|PMID:29650961|PMID:29718794|PMID:30029678|PMID:30084161|PMID:30578397|PMID:31727138|PMID:32581362|PMID:33380512|PMID:34589526|PMID:36675162
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:9001820	Pulmonary Arterial Hypertension	treatment	ISO	RGD:735374	D	RGD:9068941	20230608	RGD			PMID:23867624|REF_RGD_ID:329848996
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:71082	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dentate gyrus, granule cell	PMID:10996456|REF_RGD_ID:5129486
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:9004771	Vascular Remodeling		ISO	RGD:71082	D	RGD:9068941	20201211	RGD			PMID:25593290|REF_RGD_ID:38500244
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:9005151	Selective Tooth Agenesis 1		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tooth agenesis, selective, 1	PMID:25741868
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:71082	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:21521772|REF_RGD_ID:5135278
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:9008582	Developmental Disease		ISO	RGD:735373	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:9008763	Femoral Fractures		ISO	RGD:71082	D	RGD:9068941	20200609	RGD			PMID:9626398|REF_RGD_ID:2289041
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:735373	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23180569
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:9009117	primary pulmonary hypertension 1		ISO	RGD:735373	D	RGD:7240710	20180905	OMIM			
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:9009117	primary pulmonary hypertension 1		ISO	RGD:735373	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BMPR2-related disorder | ClinVar Annotator: match by term: PULMONARY HYPERTENSION, PRIMARY, 1 | ClinVar Annotator: match by term: PULMONARY HYPERTENSION, PRIMARY, 1, WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1	PMID:10903931|PMID:10973254|PMID:11015450|PMID:11115378|PMID:11502704|PMID:11536076|PMID:12045205|PMID:12139571|PMID:12417513|PMID:12821254|PMID:14516151|PMID:14583445|PMID:14985116|PMID:15055271|PMID:15059534|PMID:15146475|PMID:15170098|PMID:15358693|PMID:15591269|PMID:15687131|PMID:15775752|PMID:15965979|PMID:16199547|PMID:16429395|PMID:16429403|PMID:16717148|PMID:16728714|PMID:17515463|PMID:17576681|PMID:18159113|PMID:18221724|PMID:18356561|PMID:18364108|PMID:18386374|PMID:18503968|PMID:19206171|PMID:19211612|PMID:19223935|PMID:19555857|PMID:19844076|PMID:20002458|PMID:20096498|PMID:20496075|PMID:20534176|PMID:21737554|PMID:21801371|PMID:22632830|PMID:23139147|PMID:23298310|PMID:23579436|PMID:23590310|PMID:23592887|PMID:23675998|PMID:24033266|PMID:24583436|PMID:24591673|PMID:24853021|PMID:24936649|PMID:25429696|PMID:25612240|PMID:25688877|PMID:25741868|PMID:26387786|PMID:26699722|PMID:27002414|PMID:27453251|PMID:28388887|PMID:28391780|PMID:28492532|PMID:28507310|PMID:29631995|PMID:29650961|PMID:29718794|PMID:30084161|PMID:30578397|PMID:30679663|PMID:31727138|PMID:32581362|PMID:33066286|PMID:33380512|PMID:34400635|PMID:34589526|PMID:34697415|PMID:35504921|PMID:9536098|PMID:9886286
8700292	Bmpr2	bone morphogenetic protein receptor type 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8700315	Sfrp2	secreted frizzled related protein 2	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1345643	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18716850
8700315	Sfrp2	secreted frizzled related protein 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1345643	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18404682
8700315	Sfrp2	secreted frizzled related protein 2	gene	DOID:5844	myocardial infarction		ISO	RGD:1550582	D	RGD:9068941	20230204	RGD			PMID:19079247|REF_RGD_ID:155883169
8700315	Sfrp2	secreted frizzled related protein 2	gene	DOID:5844	myocardial infarction		ISO	RGD:735163	D	RGD:9068941	20200609	RGD			PMID:19109969|REF_RGD_ID:4107088
8700315	Sfrp2	secreted frizzled related protein 2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:735163	D	RGD:9068941	20200609	RGD			PMID:19109969|REF_RGD_ID:4107088
8700315	Sfrp2	secreted frizzled related protein 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1345643	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17923031|PMID:18716850
8700315	Sfrp2	secreted frizzled related protein 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1345643	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18283316
8700322	Foxh1	forkhead box H1	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1322646	D	RGD:9068941	20220825	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
8700322	Foxh1	forkhead box H1	gene	DOID:0060341	agnathia-otocephaly complex		ISO	RGD:1322646	D	RGD:9068941	20220825	MouseDO		OMIM:202650	
8700322	Foxh1	forkhead box H1	gene	DOID:4621	holoprosencephaly		ISO	RGD:1322645	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: FOXH1-related condition | ClinVar Annotator: match by term: Holoprosencephaly | ClinVar Annotator: match by term: Holoprosencephaly sequence	PMID:18538293|PMID:25741868|PMID:28492532
8700322	Foxh1	forkhead box H1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322645	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8700322	Foxh1	forkhead box H1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8700322	Foxh1	forkhead box H1	gene	DOID:630	genetic disease		ISO	RGD:1322645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8700322	Foxh1	forkhead box H1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1322645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25093829
8700322	Foxh1	forkhead box H1	gene	DOID:9007617	Conotruncal Cardiac Defects		ISO	RGD:1322645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Conotruncal defect	PMID:32003456
8700353	Klhdc8a	kelch domain containing 8A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8700353	Klhdc8a	kelch domain containing 8A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605377	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8700353	Klhdc8a	kelch domain containing 8A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8700369	Tsga13	testis specific 13	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1314383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
8700369	Tsga13	testis specific 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:1115	sarcoma		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:12849	autistic disorder		ISO	RGD:733860	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:1324	lung cancer		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:1909	melanoma		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:4362	cervical cancer		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:5041	esophageal cancer		ISO	RGD:733860	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:5844	myocardial infarction		ISO	RGD:733860	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17071729
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:630	genetic disease		ISO	RGD:733860	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:9001276	Failure to Thrive		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:9002669	Hypoxia		ISO	RGD:70929	D	RGD:9068941	20200609	RGD		protein:decreased dimerization:hippocampus (rat)	PMID:24893663|REF_RGD_ID:9590077
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:9007661	Dwarfism		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8700387	Dgkz	diacylglycerol kinase zeta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8700440	Srbd1	S1 RNA binding domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8700440	Srbd1	S1 RNA binding domain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8700440	Srbd1	S1 RNA binding domain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8700440	Srbd1	S1 RNA binding domain 1	gene	DOID:1115	sarcoma		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8700440	Srbd1	S1 RNA binding domain 1	gene	DOID:1324	lung cancer		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8700440	Srbd1	S1 RNA binding domain 1	gene	DOID:3070	high grade glioma		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8700440	Srbd1	S1 RNA binding domain 1	gene	DOID:3275	thymoma		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8700440	Srbd1	S1 RNA binding domain 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8700440	Srbd1	S1 RNA binding domain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8700440	Srbd1	S1 RNA binding domain 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8700440	Srbd1	S1 RNA binding domain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602705	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8700440	Srbd1	S1 RNA binding domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8700440	Srbd1	S1 RNA binding domain 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8700440	Srbd1	S1 RNA binding domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8700440	Srbd1	S1 RNA binding domain 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8700475	Zmat3	zinc finger matrin-type 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8700475	Zmat3	zinc finger matrin-type 3	gene	DOID:10283	prostate cancer		ISO	RGD:1602466	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8700475	Zmat3	zinc finger matrin-type 3	gene	DOID:10283	prostate cancer		ISO	RGD:1602466	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8700475	Zmat3	zinc finger matrin-type 3	gene	DOID:1115	sarcoma		ISO	RGD:1602466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8700475	Zmat3	zinc finger matrin-type 3	gene	DOID:1324	lung cancer		ISO	RGD:1602466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8700475	Zmat3	zinc finger matrin-type 3	gene	DOID:3070	high grade glioma		ISO	RGD:1602466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8700475	Zmat3	zinc finger matrin-type 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8700475	Zmat3	zinc finger matrin-type 3	gene	DOID:4362	cervical cancer		ISO	RGD:1602466	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8700475	Zmat3	zinc finger matrin-type 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8700475	Zmat3	zinc finger matrin-type 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8700475	Zmat3	zinc finger matrin-type 3	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1602466	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17234339
8700475	Zmat3	zinc finger matrin-type 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8700490	Pdap1	PDGFA associated protein 1	gene	DOID:3070	high grade glioma	severity	ISO	RGD:733658	D	RGD:9068941	20200609	RGD			PMID:27448842|REF_RGD_ID:13702895
8700490	Pdap1	PDGFA associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8700490	Pdap1	PDGFA associated protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733658	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8700490	Pdap1	PDGFA associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8700500	Zng1a	Zn regulated GTPase metalloprotein activator 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8700500	Zng1a	Zn regulated GTPase metalloprotein activator 1A	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1552833	D	RGD:9068941	20220825	MouseDO			
8700500	Zng1a	Zn regulated GTPase metalloprotein activator 1A	gene	DOID:0080600	COVID-19		ISO	RGD:1348830	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8700500	Zng1a	Zn regulated GTPase metalloprotein activator 1A	gene	DOID:10534	stomach cancer		ISO	RGD:1348830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8700500	Zng1a	Zn regulated GTPase metalloprotein activator 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8700500	Zng1a	Zn regulated GTPase metalloprotein activator 1A	gene	DOID:1115	sarcoma		ISO	RGD:1348830	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8700500	Zng1a	Zn regulated GTPase metalloprotein activator 1A	gene	DOID:1324	lung cancer		ISO	RGD:1348830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8700500	Zng1a	Zn regulated GTPase metalloprotein activator 1A	gene	DOID:4362	cervical cancer		ISO	RGD:1348830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8700500	Zng1a	Zn regulated GTPase metalloprotein activator 1A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8700500	Zng1a	Zn regulated GTPase metalloprotein activator 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:1348830	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8700500	Zng1a	Zn regulated GTPase metalloprotein activator 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8700500	Zng1a	Zn regulated GTPase metalloprotein activator 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8700530	Tp53i13	tumor protein p53 inducible protein 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8700530	Tp53i13	tumor protein p53 inducible protein 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8700530	Tp53i13	tumor protein p53 inducible protein 13	gene	DOID:10534	stomach cancer		ISO	RGD:1605319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8700530	Tp53i13	tumor protein p53 inducible protein 13	gene	DOID:1115	sarcoma		ISO	RGD:1605319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8700530	Tp53i13	tumor protein p53 inducible protein 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8700530	Tp53i13	tumor protein p53 inducible protein 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8700530	Tp53i13	tumor protein p53 inducible protein 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL	
8700541	Prickle3	prickle planar cell polarity protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8700541	Prickle3	prickle planar cell polarity protein 3	gene	DOID:0060058	lymphoma		ISO	RGD:1350042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8700541	Prickle3	prickle planar cell polarity protein 3	gene	DOID:0111754	Leber plus disease		ISO	RGD:1553854	D	RGD:9068941	20220825	MouseDO			
8700541	Prickle3	prickle planar cell polarity protein 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1350042	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive sensorineural hearing impairment	
8700541	Prickle3	prickle planar cell polarity protein 3	gene	DOID:1909	melanoma		ISO	RGD:1350042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8700541	Prickle3	prickle planar cell polarity protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1350042	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8700541	Prickle3	prickle planar cell polarity protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8700541	Prickle3	prickle planar cell polarity protein 3	gene	DOID:705	Leber hereditary optic neuropathy		ISO	RGD:1350042	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leber optic atrophy	
8700541	Prickle3	prickle planar cell polarity protein 3	gene	DOID:9004196	Leber Optic Atrophy, Susceptibility To		ISO	RGD:1350042	D	RGD:7240710	20220309	OMIM			
8700541	Prickle3	prickle planar cell polarity protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8700541	Prickle3	prickle planar cell polarity protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8700566	Rnf38	ring finger protein 38	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8700566	Rnf38	ring finger protein 38	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8700566	Rnf38	ring finger protein 38	gene	DOID:10534	stomach cancer		ISO	RGD:737292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8700566	Rnf38	ring finger protein 38	gene	DOID:1115	sarcoma		ISO	RGD:737292	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8700566	Rnf38	ring finger protein 38	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8700566	Rnf38	ring finger protein 38	gene	DOID:4362	cervical cancer		ISO	RGD:737292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8700566	Rnf38	ring finger protein 38	gene	DOID:5041	esophageal cancer		ISO	RGD:737292	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8700566	Rnf38	ring finger protein 38	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8700566	Rnf38	ring finger protein 38	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8700566	Rnf38	ring finger protein 38	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8700566	Rnf38	ring finger protein 38	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8700566	Rnf38	ring finger protein 38	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8700604	H3f3b	H3 histone, family 3B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8700604	H3f3b	H3 histone, family 3B	gene	DOID:0051012	Bryant-Li-Bhoj neurodevelopmental syndrome 2		ISO	RGD:733608	D	RGD:7240710	20220223	OMIM			
8700604	H3f3b	H3 histone, family 3B	gene	DOID:0051012	Bryant-Li-Bhoj neurodevelopmental syndrome 2		ISO	RGD:733608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 | ClinVar Annotator: match by term: Bryant-Li-Bhoj neurodevelopmental syndrome 2 | ClinVar Annotator: match by term: H3-3B-related condition	PMID:25741868|PMID:28492532|PMID:31912665|PMID:33268356|PMID:34876591|PMID:38678163
8700604	H3f3b	H3 histone, family 3B	gene	DOID:10534	stomach cancer		ISO	RGD:733608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8700604	H3f3b	H3 histone, family 3B	gene	DOID:1059	intellectual disability		ISO	RGD:733608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:33268356|PMID:34876591
8700604	H3f3b	H3 histone, family 3B	gene	DOID:10604	lactose intolerance		ISO	RGD:733608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactose intolerance	PMID:28492532|PMID:33268356|PMID:34876591
8700604	H3f3b	H3 histone, family 3B	gene	DOID:1115	sarcoma		ISO	RGD:733608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8700604	H3f3b	H3 histone, family 3B	gene	DOID:12128	pica disease		ISO	RGD:733608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pica	PMID:33268356|PMID:34876591
8700604	H3f3b	H3 histone, family 3B	gene	DOID:12849	autistic disorder		ISO	RGD:733608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:28492532|PMID:33268356|PMID:34876591
8700604	H3f3b	H3 histone, family 3B	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:733608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:31515627|PMID:35101336
8700604	H3f3b	H3 histone, family 3B	gene	DOID:1826	epilepsy		ISO	RGD:733608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:33268356|PMID:34876591
8700604	H3f3b	H3 histone, family 3B	gene	DOID:1909	melanoma		ISO	RGD:733608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8700604	H3f3b	H3 histone, family 3B	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:733608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Head-banging	PMID:33268356|PMID:34876591
8700604	H3f3b	H3 histone, family 3B	gene	DOID:2649	chondroblastoma		ISO	RGD:733608	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24162739
8700604	H3f3b	H3 histone, family 3B	gene	DOID:305	carcinoma		ISO	RGD:733609	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8700604	H3f3b	H3 histone, family 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8700604	H3f3b	H3 histone, family 3B	gene	DOID:630	genetic disease		ISO	RGD:733608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33268356|PMID:34876591
8700604	H3f3b	H3 histone, family 3B	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:733609	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8700604	H3f3b	H3 histone, family 3B	gene	DOID:9000641	Pain		ISO	RGD:733608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	PMID:28492532|PMID:33268356|PMID:34876591
8700604	H3f3b	H3 histone, family 3B	gene	DOID:9002916	Hyperphagia		ISO	RGD:733608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	PMID:33268356|PMID:34876591
8700604	H3f3b	H3 histone, family 3B	gene	DOID:9003816	Macrocephaly		ISO	RGD:733608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:28492532|PMID:33268356|PMID:34876591
8700604	H3f3b	H3 histone, family 3B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:733608	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:33268356|PMID:34876591
8700604	H3f3b	H3 histone, family 3B	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:733609	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8700604	H3f3b	H3 histone, family 3B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:28492532|PMID:33268356|PMID:34876591
8700604	H3f3b	H3 histone, family 3B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8700604	H3f3b	H3 histone, family 3B	gene	DOID:9007661	Dwarfism		ISO	RGD:733608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532|PMID:33268356|PMID:34876591
8700604	H3f3b	H3 histone, family 3B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:33268356|PMID:34876591
8700604	H3f3b	H3 histone, family 3B	gene	DOID:9970	obesity		ISO	RGD:733608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:33268356|PMID:34876591
8700638	Cdh12	cadherin 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8700638	Cdh12	cadherin 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8700638	Cdh12	cadherin 12	gene	DOID:10534	stomach cancer		ISO	RGD:1343875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8700638	Cdh12	cadherin 12	gene	DOID:1324	lung cancer		ISO	RGD:1343875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
8700638	Cdh12	cadherin 12	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8700638	Cdh12	cadherin 12	gene	DOID:4362	cervical cancer		ISO	RGD:1343875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8700638	Cdh12	cadherin 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8700638	Cdh12	cadherin 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8700638	Cdh12	cadherin 12	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1343875	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
8700638	Cdh12	cadherin 12	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343875	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8700662	Aldh16a1	aldehyde dehydrogenase 16 family member A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8700662	Aldh16a1	aldehyde dehydrogenase 16 family member A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8700662	Aldh16a1	aldehyde dehydrogenase 16 family member A1	gene	DOID:0112127	HRPT-related hyperuricemia		ISO	RGD:1350465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23348497
8700662	Aldh16a1	aldehyde dehydrogenase 16 family member A1	gene	DOID:10534	stomach cancer		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8700662	Aldh16a1	aldehyde dehydrogenase 16 family member A1	gene	DOID:1115	sarcoma		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8700662	Aldh16a1	aldehyde dehydrogenase 16 family member A1	gene	DOID:13189	gout		ISO	RGD:1350465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21983786
8700662	Aldh16a1	aldehyde dehydrogenase 16 family member A1	gene	DOID:1920	hyperuricemia		ISO	RGD:1350465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23348497
8700662	Aldh16a1	aldehyde dehydrogenase 16 family member A1	gene	DOID:3275	thymoma		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8700662	Aldh16a1	aldehyde dehydrogenase 16 family member A1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8700662	Aldh16a1	aldehyde dehydrogenase 16 family member A1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8700662	Aldh16a1	aldehyde dehydrogenase 16 family member A1	gene	DOID:4362	cervical cancer		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8700662	Aldh16a1	aldehyde dehydrogenase 16 family member A1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8700662	Aldh16a1	aldehyde dehydrogenase 16 family member A1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8700662	Aldh16a1	aldehyde dehydrogenase 16 family member A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8700662	Aldh16a1	aldehyde dehydrogenase 16 family member A1	gene	DOID:6039	uveal melanoma		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8700662	Aldh16a1	aldehyde dehydrogenase 16 family member A1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8700662	Aldh16a1	aldehyde dehydrogenase 16 family member A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8700662	Aldh16a1	aldehyde dehydrogenase 16 family member A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8700662	Aldh16a1	aldehyde dehydrogenase 16 family member A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8700689	Slc33a1	solute carrier family 33 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8700689	Slc33a1	solute carrier family 33 member 1	gene	DOID:0060058	lymphoma		ISO	RGD:732825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8700689	Slc33a1	solute carrier family 33 member 1	gene	DOID:0110794	hereditary spastic paraplegia 42		ISO	RGD:732825	D	RGD:7240710	20180130	OMIM			
8700689	Slc33a1	solute carrier family 33 member 1	gene	DOID:0110794	hereditary spastic paraplegia 42		ISO	RGD:732825	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 42 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 42, autosomal dominant	PMID:24583203|PMID:25741868|PMID:26467025|PMID:28492532
8700689	Slc33a1	solute carrier family 33 member 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:732825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:24583203|PMID:25741868|PMID:26467025|PMID:28492532
8700689	Slc33a1	solute carrier family 33 member 1	gene	DOID:3070	high grade glioma		ISO	RGD:732825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8700689	Slc33a1	solute carrier family 33 member 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8700689	Slc33a1	solute carrier family 33 member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:732825	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8700689	Slc33a1	solute carrier family 33 member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8700689	Slc33a1	solute carrier family 33 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8700689	Slc33a1	solute carrier family 33 member 1	gene	DOID:607	paraplegia		ISO	RGD:732825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:22243965|PMID:24583203|PMID:25741868|PMID:26467025|PMID:27306358|PMID:28492532|PMID:34983064
8700689	Slc33a1	solute carrier family 33 member 1	gene	DOID:630	genetic disease		ISO	RGD:732825	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8700689	Slc33a1	solute carrier family 33 member 1	gene	DOID:83	cataract		ISO	RGD:732825	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22243965
8700689	Slc33a1	solute carrier family 33 member 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:32581362
8700689	Slc33a1	solute carrier family 33 member 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8700689	Slc33a1	solute carrier family 33 member 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:732825	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22243965
8700689	Slc33a1	solute carrier family 33 member 1	gene	DOID:9005895	Congenital Cataracts, Hearing Loss, and Neurodegeneration		ISO	RGD:732825	D	RGD:7240710	20180130	OMIM			
8700689	Slc33a1	solute carrier family 33 member 1	gene	DOID:9005895	Congenital Cataracts, Hearing Loss, and Neurodegeneration		ISO	RGD:732825	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ACETYL-CoA TRANSPORTER DEFICIENCY | ClinVar Annotator: match by term: HUPPKE-BRENDEL SYNDROME | ClinVar Annotator: match by term: SLC33A1-related condition	PMID:22243965|PMID:24215330|PMID:25741868|PMID:26467025|PMID:27306358|PMID:28492532|PMID:29908077
8700689	Slc33a1	solute carrier family 33 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8700689	Slc33a1	solute carrier family 33 member 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732825	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:22243965
8700689	Slc33a1	solute carrier family 33 member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8700689	Slc33a1	solute carrier family 33 member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:732825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8700722	Sike1	suppressor of IKBKE 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8700722	Sike1	suppressor of IKBKE 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8700722	Sike1	suppressor of IKBKE 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8700722	Sike1	suppressor of IKBKE 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8700722	Sike1	suppressor of IKBKE 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602207	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8700722	Sike1	suppressor of IKBKE 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8700722	Sike1	suppressor of IKBKE 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8700722	Sike1	suppressor of IKBKE 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8700722	Sike1	suppressor of IKBKE 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8700733	LOC102022645	25-hydroxycholesterol 7-alpha-hydroxylase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8700733	LOC102022645	25-hydroxycholesterol 7-alpha-hydroxylase	gene	DOID:0050952	spastic ataxia		ISO	RGD:735270	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
8700733	LOC102022645	25-hydroxycholesterol 7-alpha-hydroxylase	gene	DOID:0110810	hereditary spastic paraplegia 5A		ISO	RGD:735270	D	RGD:7240710	20180130	OMIM			
8700733	LOC102022645	25-hydroxycholesterol 7-alpha-hydroxylase	gene	DOID:0110810	hereditary spastic paraplegia 5A		ISO	RGD:735270	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	PMID:15007371|PMID:16199547|PMID:17576681|PMID:18252231|PMID:18855023|PMID:19187859|PMID:19363635|PMID:19439420|PMID:21214876|PMID:21452256|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:24117163|PMID:24340040|PMID:24519355|PMID:24641183|PMID:25741868|PMID:26370385|PMID:26467025|PMID:26714052|PMID:28039895|PMID:28492532|PMID:29126212|PMID:29228183|PMID:29246610|PMID:29482223|PMID:29980238|PMID:31227335|PMID:31407473|PMID:31692161|PMID:32202070|PMID:34234304|PMID:34983064|PMID:9536098|PMID:9802883
8700733	LOC102022645	25-hydroxycholesterol 7-alpha-hydroxylase	gene	DOID:0111070	congenital bile acid synthesis defect 3		ISO	RGD:735270	D	RGD:7240710	20180130	OMIM			
8700733	LOC102022645	25-hydroxycholesterol 7-alpha-hydroxylase	gene	DOID:0111070	congenital bile acid synthesis defect 3		ISO	RGD:735270	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 | ClinVar Annotator: match by term: CYP7B1-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3	PMID:17503452|PMID:18252231|PMID:19363635|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21541746|PMID:21567895|PMID:21623769|PMID:22384504|PMID:24033266|PMID:24117163|PMID:24482476|PMID:24519355|PMID:24641183|PMID:24658845|PMID:25324891|PMID:25741868|PMID:26374131|PMID:26467025|PMID:27084228|PMID:28039895|PMID:28492532|PMID:29126212|PMID:29228183|PMID:29246610|PMID:29980238|PMID:30564185|PMID:30930780|PMID:31334109|PMID:31589614|PMID:31692161|PMID:32202070|PMID:33160247|PMID:33771085|PMID:34234304|PMID:34426522|PMID:34983064|PMID:7987300|PMID:9802883
8700733	LOC102022645	25-hydroxycholesterol 7-alpha-hydroxylase	gene	DOID:13580	cholestasis		ISO	RGD:735270	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9802883
8700733	LOC102022645	25-hydroxycholesterol 7-alpha-hydroxylase	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:735270	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:12874406|PMID:15007371|PMID:18252231|PMID:18367963|PMID:18855023|PMID:19187859|PMID:19363635|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:23812641|PMID:24033266|PMID:24117163|PMID:2411763|PMID:24340040|PMID:24641183|PMID:24658845|PMID:24927729|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26370385|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27957547|PMID:28492532|PMID:28832565|PMID:29228183|PMID:29980238|PMID:7987300
8700733	LOC102022645	25-hydroxycholesterol 7-alpha-hydroxylase	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:735270	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:15007371|PMID:18252231|PMID:18855023|PMID:19187859|PMID:19363635|PMID:19439420|PMID:21214876|PMID:21452256|PMID:21541746|PMID:21567895|PMID:21966169|PMID:22384504|PMID:24117163|PMID:24340040|PMID:24519355|PMID:24641183|PMID:25741868|PMID:26370385|PMID:26467025|PMID:26714052|PMID:28039895|PMID:28492532|PMID:28832565|PMID:29126212|PMID:29228183|PMID:29246610|PMID:29482223|PMID:29980238|PMID:31692161|PMID:32202070|PMID:34234304|PMID:34983064|PMID:9802883
8700733	LOC102022645	25-hydroxycholesterol 7-alpha-hydroxylase	gene	DOID:299	adenocarcinoma		ISO	RGD:735270	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17639508
8700733	LOC102022645	25-hydroxycholesterol 7-alpha-hydroxylase	gene	DOID:3146	lipid metabolism disorder		ISO	RGD:735270	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18252231
8700733	LOC102022645	25-hydroxycholesterol 7-alpha-hydroxylase	gene	DOID:409	liver disease		ISO	RGD:735270	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9802883
8700733	LOC102022645	25-hydroxycholesterol 7-alpha-hydroxylase	gene	DOID:607	paraplegia		ISO	RGD:735270	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:15007371|PMID:16199547|PMID:17576681|PMID:18252231|PMID:18855023|PMID:19187859|PMID:19363635|PMID:19439320|PMID:19439420|PMID:21214876|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:23812641|PMID:24117163|PMID:24340040|PMID:24519355|PMID:24641183|PMID:25741868|PMID:26370385|PMID:26374131|PMID:26467025|PMID:26714052|PMID:27260292|PMID:28039895|PMID:28492532|PMID:29126212|PMID:29228183|PMID:29246610|PMID:29482223|PMID:29980238|PMID:30546280|PMID:30564185|PMID:31692161|PMID:32153140|PMID:32202070|PMID:34234304|PMID:34782662|PMID:34983064|PMID:35464835|PMID:35578252|PMID:37712079|PMID:38651515|PMID:9536098|PMID:9802883
8700733	LOC102022645	25-hydroxycholesterol 7-alpha-hydroxylase	gene	DOID:630	genetic disease		ISO	RGD:735270	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19363635|PMID:19439420|PMID:21541746|PMID:21567895|PMID:24117163|PMID:24641183|PMID:25741868|PMID:28039895|PMID:28492532|PMID:29980238|PMID:9802883
8700733	LOC102022645	25-hydroxycholesterol 7-alpha-hydroxylase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8700733	LOC102022645	25-hydroxycholesterol 7-alpha-hydroxylase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735270	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17639508
8700733	LOC102022645	25-hydroxycholesterol 7-alpha-hydroxylase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8700733	LOC102022645	25-hydroxycholesterol 7-alpha-hydroxylase	gene	DOID:9452	steatotic liver disease		ISO	RGD:735270	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23391614
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:0050938	breast lobular carcinoma		ISO	RGD:737523	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:15609129
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:737523	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15609129
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:737523	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15609129
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:737523	D	RGD:9068941	20200609	RGD		protein:altered localization:nucleus	PMID:15609129|REF_RGD_ID:2291932
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:737523	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast	PMID:16133357|REF_RGD_ID:2291930
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:737523	D	RGD:9068941	20220407	RGD		protein:increased phosphorylation:bone marrow (human)	PMID:27018255|REF_RGD_ID:151665817
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:0080909	castration-resistant prostate carcinoma	disease_progression	ISO	RGD:737523	D	RGD:9068941	20220414	RGD		DNA:CNV: :prostate (human)	PMID:23660011|REF_RGD_ID:151667415
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:0080909	castration-resistant prostate carcinoma	treatment	ISO	RGD:11351	D	RGD:9068941	20220414	RGD			PMID:23660011|REF_RGD_ID:151667415
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:737523	D	RGD:9068941	20220414	RGD		DNA:CNV: :prostate (human)	PMID:23660011|REF_RGD_ID:151667415
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:10485	esophageal atresia		ISO	RGD:737523	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:1115	sarcoma		ISO	RGD:737523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:299	adenocarcinoma		ISO	RGD:737523	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20235097|PMID:21552421
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:305	carcinoma		ISO	RGD:737523	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462|PMID:16316942|PMID:17173897
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:3068	glioblastoma	disease_progression	ISO	RGD:737523	D	RGD:9068941	20220414	RGD		mRNA, protein:increased expression:brain (human)	PMID:31783691|REF_RGD_ID:151667907
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:3068	glioblastoma	treatment	ISO	RGD:737523	D	RGD:9068941	20220414	RGD		human cells in mouse model	PMID:31783691|REF_RGD_ID:151667907
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:3275	thymoma		ISO	RGD:737523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:3457	invasive lobular carcinoma		ISO	RGD:737523	D	RGD:9068941	20200609	RGD		protein:altered localization:nucleus	PMID:15609129|REF_RGD_ID:2291932
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:3717	gastric adenocarcinoma	exacerbates	ISO	RGD:737523	D	RGD:9068941	20220729	RGD		mRNA:increased expression:stomach (human)	PMID:33042401|REF_RGD_ID:153298934
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:11351	D	RGD:9068941	20210702	RGD			PMID:28100771|REF_RGD_ID:127285675
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:707	B-cell lymphoma		ISO	RGD:11351	D	RGD:9068941	20220407	RGD			PMID:27018255|REF_RGD_ID:151665817
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:737523	D	RGD:9068941	20220414	RGD		mRNA:increased expression:PBMC (human)	PMID:31952546|REF_RGD_ID:151667904
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:8552	chronic myeloid leukemia	disease_progression	ISO	RGD:11351	D	RGD:9068941	20220414	RGD			PMID:16522816|REF_RGD_ID:151667903
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:8552	chronic myeloid leukemia	treatment	ISO	RGD:737523	D	RGD:9068941	20220414	RGD		human cells in mouse model	PMID:31952546|REF_RGD_ID:151667904
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:737523	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462|PMID:15609129|PMID:16316942|PMID:17173897|PMID:20235097
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:737523	D	RGD:9068941	20220414	RGD		DNA:CNV: :prostate (human)	PMID:23660011|REF_RGD_ID:151667415
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:3773	D	RGD:9068941	20220331	RGD			PMID:30346985|REF_RGD_ID:151665755
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3773	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus	PMID:17880360|REF_RGD_ID:2303397
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:9004713	Acute-Phase Reaction		ISO	RGD:3773	D	RGD:9068941	20220331	RGD		protein:increased expression:liver (rat)	PMID:7519723|REF_RGD_ID:151665740
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:737523	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552421
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:11351	D	RGD:9068941	20220407	RGD			PMID:20181624|REF_RGD_ID:151665819
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:3773	D	RGD:9068941	20200609	RGD		protein:altered localization:nucleus	PMID:15609129|REF_RGD_ID:2291932
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:3773	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:mammary gland	PMID:17173897|REF_RGD_ID:2291927
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:3773	D	RGD:9068941	20220324	RGD		mRNA:increased expression:mammary gland (rat)	PMID:16316942|REF_RGD_ID:2306898
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:3773	D	RGD:9068941	20220331	RGD		mRNA, protein:increased expression:mammary gland (rat)	PMID:12376462|REF_RGD_ID:2292404
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:737523	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462|PMID:15609129|PMID:16316942
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:9005233	Experimental Mammary Neoplasms	susceptibility	ISO	RGD:11351	D	RGD:9068941	20200609	RGD			PMID:12082622|REF_RGD_ID:2298539
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:9006928	Viral Bronchiolitis	severity	ISO	RGD:737523	D	RGD:9068941	20201218	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:26541527|REF_RGD_ID:40902860
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:737523	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15746188
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:9008138	Ductal Carcinoma		ISO	RGD:737523	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15609129
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737523	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15609129
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737523	D	RGD:9068941	20200609	RGD		protein:altered localization:nucleus	PMID:15609129|REF_RGD_ID:2291932
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737523	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast	PMID:16133357|REF_RGD_ID:2291930
8700775	Stat5a	signal transducer and activator of transcription 5A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8700836	Rps26	ribosomal protein S26	gene	DOID:0111888	Diamond-Blackfan anemia 10		ISO	RGD:1344988	D	RGD:7240710	20180130	OMIM			
8700836	Rps26	ribosomal protein S26	gene	DOID:0111888	Diamond-Blackfan anemia 10		ISO	RGD:1344988	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 10 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 | ClinVar Annotator: match by term: RPS26-related condition	PMID:16199547|PMID:17576681|PMID:19816270|PMID:20116044|PMID:21414820|PMID:22381658|PMID:23718193|PMID:24675553|PMID:24942156|PMID:25741868|PMID:25946618|PMID:26136524|PMID:28102861|PMID:28104920|PMID:28492532|PMID:29044489|PMID:29114930|PMID:30376034|PMID:37376976|PMID:9536098
8700836	Rps26	ribosomal protein S26	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8700836	Rps26	ribosomal protein S26	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:1344988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:16199547|PMID:20116044|PMID:21414820|PMID:23718193|PMID:24942156|PMID:25741868|PMID:26136524|PMID:26604301|PMID:27329125|PMID:28102861|PMID:28492532|PMID:29114930
8700836	Rps26	ribosomal protein S26	gene	DOID:1342	congenital hypoplastic anemia		ISO	RGD:1344988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypoplastic anemia	PMID:20116044|PMID:24942156|PMID:25741868|PMID:26136524|PMID:28492532
8700836	Rps26	ribosomal protein S26	gene	DOID:2355	anemia		ISO	RGD:1344988	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:32581362
8700836	Rps26	ribosomal protein S26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:20116044|PMID:24942156|PMID:25741868|PMID:26136524|PMID:28492532
8700836	Rps26	ribosomal protein S26	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1344988	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8700836	Rps26	ribosomal protein S26	gene	DOID:9000918	Disease Progression		ISO	RGD:1344988	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8700844	Minpp1	multiple inositol-polyphosphate phosphatase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8700844	Minpp1	multiple inositol-polyphosphate phosphatase 1	gene	DOID:0112333	pontocerebellar hypoplasia type 16		ISO	RGD:733356	D	RGD:7240710	20211006	OMIM			
8700844	Minpp1	multiple inositol-polyphosphate phosphatase 1	gene	DOID:0112333	pontocerebellar hypoplasia type 16		ISO	RGD:733356	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia,  type 16 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 16	PMID:25741868|PMID:33168985|PMID:33257696
8700844	Minpp1	multiple inositol-polyphosphate phosphatase 1	gene	DOID:1115	sarcoma		ISO	RGD:733356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8700844	Minpp1	multiple inositol-polyphosphate phosphatase 1	gene	DOID:1909	melanoma		ISO	RGD:733356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8700844	Minpp1	multiple inositol-polyphosphate phosphatase 1	gene	DOID:37	skin disease		ISO	RGD:733356	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8700844	Minpp1	multiple inositol-polyphosphate phosphatase 1	gene	DOID:3962	follicular thyroid carcinoma		ISO	RGD:733356	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: THYROID CARCINOMA, FOLLICULAR	
8700844	Minpp1	multiple inositol-polyphosphate phosphatase 1	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:733356	D	RGD:9068941	20200609	RGD		DNA:loss of heterozygosity	PMID:11297621|REF_RGD_ID:737769
8700844	Minpp1	multiple inositol-polyphosphate phosphatase 1	gene	DOID:9006494	Follicular Thyroid Cancer		ISO	RGD:733356	D	RGD:7240710	20180130	OMIM			
8700844	Minpp1	multiple inositol-polyphosphate phosphatase 1	gene	DOID:9006494	Follicular Thyroid Cancer		ISO	RGD:733356	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: MINPP1-related condition | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2	PMID:25741868
8700844	Minpp1	multiple inositol-polyphosphate phosphatase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8700844	Minpp1	multiple inositol-polyphosphate phosphatase 1	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:733356	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8700844	Minpp1	multiple inositol-polyphosphate phosphatase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050538	Charcot-Marie-Tooth disease type 1		ISO	RGD:1312500	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I	
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1312500	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:17576681|PMID:20045102|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25783436|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28166811|PMID:28492532|PMID:28493438|PMID:29653220|PMID:30124830|PMID:30373780|PMID:32314272|PMID:33909043|PMID:9536098
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1312500	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:16199547|PMID:17576681|PMID:20045102|PMID:22009580|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25326637|PMID:25741868|PMID:25783436|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28492532|PMID:28493438|PMID:29653220|PMID:30124830|PMID:30373780|PMID:31791873|PMID:32314272|PMID:32376792|PMID:32403337|PMID:32571458|PMID:33294374|PMID:33909043|PMID:9536098
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1312500	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:16199547|PMID:17576681|PMID:20045102|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28166811|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30373780|PMID:31791873|PMID:31827005|PMID:32314272|PMID:32376792|PMID:32571458|PMID:33294374|PMID:33753480|PMID:33909043|PMID:34446925|PMID:6492094|PMID:9536098
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1312500	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:16199547|PMID:17576681|PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30214071|PMID:30373780|PMID:31130284|PMID:31791873|PMID:31827005|PMID:32314272|PMID:32376792|PMID:32571458|PMID:33294374|PMID:33753480|PMID:33909043|PMID:34446925|PMID:34645488|PMID:34650302|PMID:6492094|PMID:7842019|PMID:9536098
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1312500	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:16199547|PMID:17576681|PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25640679|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30214071|PMID:30373780|PMID:31130284|PMID:31791873|PMID:31827005|PMID:32314272|PMID:32376792|PMID:32571458|PMID:33294374|PMID:33753480|PMID:33909043|PMID:34446925|PMID:34645488|PMID:34650302|PMID:6492094|PMID:7842019|PMID:9536098
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1312500	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:16199547|PMID:17576681|PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:22206013|PMID:24627108|PMID:25640679|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27993330|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30214071|PMID:31069529|PMID:31130284|PMID:31791873|PMID:31827005|PMID:32314272|PMID:32376792|PMID:32571458|PMID:33144514|PMID:33294374|PMID:33369814|PMID:33753480|PMID:34446925|PMID:34645488|PMID:34650302|PMID:34813128|PMID:7842019|PMID:9536098
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1312500	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:16199547|PMID:17576681|PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:22206013|PMID:24627108|PMID:25640679|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:27164712|PMID:27993330|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30214071|PMID:31069529|PMID:31130284|PMID:31791873|PMID:31827005|PMID:32314272|PMID:32376792|PMID:32571458|PMID:33144514|PMID:33294374|PMID:33369814|PMID:33753480|PMID:34446925|PMID:34645488|PMID:34650302|PMID:34813128|PMID:7842019|PMID:9536098
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0061023	nonphotosensitive trichothiodystrophy 8		ISO	RGD:1312500	D	RGD:7240710	20220112	OMIM			
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0061023	nonphotosensitive trichothiodystrophy 8		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE | ClinVar Annotator: match by term: Trichothiodystrophy 8, nonphotosensitive	PMID:25741868|PMID:28492532|PMID:31069529|PMID:33909043
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868|PMID:28492532
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0080451	developmental and epileptic encephalopathy 29		ISO	RGD:1312500	D	RGD:7240710	20180130	OMIM			
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0080451	developmental and epileptic encephalopathy 29		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 29 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 29	PMID:21494555|PMID:25741868|PMID:25817015|PMID:28492532|PMID:28493438|PMID:29653220|PMID:31069529|PMID:32571458|PMID:33294374|PMID:34446925
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0080523	adult-onset leukoencephalopathy with axonal spheroids and pigmented glia		ISO	RGD:1312500	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids	PMID:31775912
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0110177	Charcot-Marie-Tooth disease axonal type 2N		ISO	RGD:1312500	D	RGD:7240710	20180130	OMIM			
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0110177	Charcot-Marie-Tooth disease axonal type 2N		ISO	RGD:1312500	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2N | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2N	PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:22206013|PMID:25741868|PMID:25817015|PMID:26032230|PMID:26257172|PMID:27993330|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:31069529|PMID:31827005|PMID:32314272|PMID:33294374|PMID:34446925|PMID:7842019
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1312500	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:17576681|PMID:20045102|PMID:22009580|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25783436|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27549087|PMID:28492532|PMID:29653220|PMID:32314272|PMID:32376792|PMID:32403337|PMID:33294374|PMID:9536098
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1312500	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:17576681|PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:27549087|PMID:28492532|PMID:29653220|PMID:32314272|PMID:32376792|PMID:33294374|PMID:33753480|PMID:34446925|PMID:34813128|PMID:9536098
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:1115	sarcoma		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:11252	microcytic anemia		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcytic anemia	PMID:25741868
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:11759	hypochromic anemia		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypochromic anemia	PMID:25741868
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:11836	clubfoot		ISO	RGD:1312500	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1312500	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Distal spinal muscular atrophy	PMID:28492532
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:1324	lung cancer		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:1909	melanoma		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:16199547|PMID:25817015|PMID:28492532|PMID:28493438|PMID:34446925|PMID:34650302
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:3275	thymoma		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312500	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:540	strabismus		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:583	hemolytic anemia		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia	PMID:25741868
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:630	genetic disease		ISO	RGD:1312500	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17576681|PMID:21494555|PMID:22009580|PMID:22206013|PMID:25025039|PMID:25741868|PMID:25817015|PMID:26257172|PMID:26752306|PMID:27993330|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30373780|PMID:31827005|PMID:32376792|PMID:33294374|PMID:34446925|PMID:9536098
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:630	genetic disease		ISO	RGD:1312500	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21494555|PMID:22009580|PMID:22206013|PMID:25741868|PMID:25817015|PMID:26257172|PMID:27993330|PMID:28492532|PMID:28902413|PMID:29653220|PMID:30124830|PMID:31069529|PMID:31827005|PMID:32376792|PMID:33294374|PMID:34813128
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:7319	axonal neuropathy		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral axonal neuropathy	PMID:27993330|PMID:28492532|PMID:29653220|PMID:30124830|PMID:31827005
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:767	muscular atrophy		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25741868|PMID:28492532
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:870	neuropathy		ISO	RGD:1312500	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:27993330|PMID:28492532|PMID:29653220|PMID:30124830|PMID:31827005
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:9001745	Fasciculation		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fasciculations	PMID:25741868|PMID:28492532
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:9003286	Diplopia		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diplopia	PMID:25741868|PMID:28492532
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:9007874	Liver Failure		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Liver failure	PMID:25741868
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:9008175	Hereditary Diffuse Leukoencephalopathy with Spheroids 2		ISO	RGD:1312500	D	RGD:7240710	20220112	OMIM			
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:9008175	Hereditary Diffuse Leukoencephalopathy with Spheroids 2		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS, SWEDISH TYPE | ClinVar Annotator: match by term: Leukoencephalopathy, hereditary diffuse, with spheroids 2	PMID:25741868|PMID:28492532|PMID:31069529
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
8700856	Aars1	alanyl-tRNA synthetase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8700881	Nif3l1	NGG1 interacting factor 3 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8700881	Nif3l1	NGG1 interacting factor 3 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8700881	Nif3l1	NGG1 interacting factor 3 like 1	gene	DOID:1909	melanoma		ISO	RGD:1321170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8700881	Nif3l1	NGG1 interacting factor 3 like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8700881	Nif3l1	NGG1 interacting factor 3 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8700881	Nif3l1	NGG1 interacting factor 3 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:0050745	diffuse large B-cell lymphoma	no_association	ISO	RGD:735440	D	RGD:9068941	20200609	RGD		SNA:polymorphism(s)	PMID:15198731|REF_RGD_ID:2298905
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:0060071	pre-malignant neoplasm	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD		associated with Liver Neoplasms	PMID:20045035|REF_RGD_ID:10413878
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:0061225	interleukin-1 receptor antagonist deficiency		ISO	RGD:735440	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis	
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:0080600	COVID-19		ISO	RGD:735440	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:0080815	childhood-onset asthma	exacerbates	ISO	RGD:735440	D	RGD:9068941	20210618	RGD		associated with respiratory syncytial virus infectious disease;DNA:SNPs:protomer: (rs2233409) (human)	PMID:23487427|REF_RGD_ID:40902982
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:0080998	acute necrotizing pancreatitis	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:19174608|REF_RGD_ID:10414072
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:0081079	ectodermal dysplasia and immunodeficiency 2		ISO	RGD:735440	D	RGD:7240710	20180130	OMIM			
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:0081079	ectodermal dysplasia and immunodeficiency 2		ISO	RGD:735440	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 | ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 | ClinVar Annotator: match by term: NFKBIA-related disorder	PMID:12167702|PMID:17576681|PMID:17931563|PMID:22078572|PMID:23708964|PMID:23870671|PMID:24033266|PMID:25601653|PMID:25741868|PMID:28492532|PMID:28629746|PMID:29948576|PMID:31618753|PMID:32581362|PMID:35753512|PMID:9536098
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:10283	prostate cancer		ISO	RGD:735440	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:735440	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation	PMID:23093296|REF_RGD_ID:13506767
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:10283	prostate cancer	no_association	ISO	RGD:735440	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs2233406, rs3138053 (human)	PMID:26834482|REF_RGD_ID:13506766
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:10283	prostate cancer	no_association	ISO	RGD:735440	D	RGD:9068941	20200609	RGD		DNA:polymorphism:3' UTR	PMID:26068031|REF_RGD_ID:11054182
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:735440	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-826C>T, -881A>G (human)	PMID:26068031|REF_RGD_ID:11054182
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:10763	hypertension	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:19246475|REF_RGD_ID:7495780
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:11383	cryptorchidism		ISO	RGD:10975	D	RGD:9068941	20200609	RGD		protein:decreased expression:testis	PMID:22777528|REF_RGD_ID:11567213
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:18938092|REF_RGD_ID:10413869
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:11650	bronchopulmonary dysplasia	exacerbates	ISO	RGD:735440	D	RGD:9068941	20210625	RGD		DNA:SNPs:promoter: (rs2233406, rs2233409) (human)	PMID:23487427|REF_RGD_ID:40902982
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:1184	nephrotic syndrome	exacerbates	ISO	RGD:735440	D	RGD:9068941	20210625	RGD		protein:decreased expression:peripheral blood mononuclear cell (human)	PMID:17441336|REF_RGD_ID:127285019
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:27939985|REF_RGD_ID:15036816
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:10975	D	RGD:9068941	20210514	RGD			PMID:20696914|REF_RGD_ID:126908016
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:10975	D	RGD:9068941	20220825	MouseDO		OMIM:270150	
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:735440	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:promoter:-826C>T,-881A>G (human)	PMID:26870106|REF_RGD_ID:13793394
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:13250	diarrhea	ameliorates	ISO	RGD:735440	D	RGD:9068941	20210521	RGD		human gene in a mouse model	PMID:20008138|REF_RGD_ID:126925947
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:14115	toxic shock syndrome	treatment	ISO	RGD:3171	D	RGD:9068941	20210604	RGD			PMID:11961112|REF_RGD_ID:126928137
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:735440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:27647909|PMID:35101336
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:1793	pancreatic cancer		ISO	RGD:735440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15861417
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:1883	hepatitis C	susceptibility	ISO	RGD:735440	D	RGD:9068941	20201218	RGD		DNA:deletion:promoter: (rs28362491) (human)	PMID:30056167|REF_RGD_ID:40902826
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:1909	melanoma		ISO	RGD:735440	D	RGD:9068941	20200609	RGD		DNA:insertion(s)	PMID:17492467|REF_RGD_ID:2298900
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:2043	hepatitis B	susceptibility	ISO	RGD:735440	D	RGD:9068941	20210604	RGD		DNA:SNPs:promoter:-826C>T, -881A>G (rs2233406, rs3138053) (human)	PMID:25223483|REF_RGD_ID:40902986
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:2316	brain ischemia		ISO	RGD:735440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18628779
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:2349	arteriosclerosis		ISO	RGD:735440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28569748
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:2526	prostate adenocarcinoma		ISO	RGD:10975	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation	PMID:15712212|REF_RGD_ID:2298768
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:2526	prostate adenocarcinoma	severity	ISO	RGD:735440	D	RGD:9068941	20200609	RGD			PMID:15073126|REF_RGD_ID:13506768
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:289	endometriosis		ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:23954358|REF_RGD_ID:10413877
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:735440	D	RGD:9068941	20210514	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:9379002|REF_RGD_ID:126908014
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:3068	glioblastoma	treatment	ISO	RGD:735440	D	RGD:9068941	20210625	RGD		human cell line in a mouse model	PMID:15692608|REF_RGD_ID:127285387
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:3070	high grade glioma		ISO	RGD:735440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:3310	atopic dermatitis		ISO	RGD:10975	D	RGD:9068941	20220825	MouseDO		OMIM:603165	
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:21122797|REF_RGD_ID:10413868
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:4029	gastritis	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD		associated with Helicobacter Infections	PMID:25335260|REF_RGD_ID:10413874
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:552	pneumonia	susceptibility	ISO	RGD:735440	D	RGD:9068941	20210528	RGD		associated with combined immunodeficiency;DNA:missense mutation:CDS:c.106T>G (p.S36A) (human)	PMID:31683054|REF_RGD_ID:126925985
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:28492532|PMID:9536098
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:19616538|REF_RGD_ID:10413879
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:630	genetic disease		ISO	RGD:735440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22022477
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:735440	D	RGD:9068941	20201211	RGD		associated with Chronic Hepatitis B;DNA:SNPs,haplotype:3'utr,promoter: 826C>T,881A>G (rs2233406,rs3138053) (human)	PMID:19797428|REF_RGD_ID:40400751
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:735440	D	RGD:9068941	20210604	RGD		associated with hepatitis B;DNA:SNP:promoter:-826C>T (rs2233406) (human)	PMID:25223483|REF_RGD_ID:40902986
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:735440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19223558
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:735440	D	RGD:9068941	20200609	RGD			PMID:10340377|REF_RGD_ID:2298893
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:735440	D	RGD:9068941	20200609	RGD		DNA:deletion:C-terminally truncated protein	PMID:10556199|REF_RGD_ID:2298894
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:865	vasculitis		ISO	RGD:735440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28569748
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:8893	psoriasis		ISO	RGD:735440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20953190
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:21134362|REF_RGD_ID:10413867
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:21642017|REF_RGD_ID:10413866
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9000310	Lung Injury		ISO	RGD:3171	D	RGD:9068941	20200609	RGD		associated with Reperfusion Injury	PMID:19321049|REF_RGD_ID:10413876
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9000873	Adenoviridae Infections	ameliorates	ISO	RGD:735440	D	RGD:9068941	20210521	RGD		human gene in a mouse model, associated with Animal Viral Hepatitis	PMID:10692445|REF_RGD_ID:126925948
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9000945	Ventilator-Induced Lung Injury		ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:20199666|REF_RGD_ID:10413863
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:735440	D	RGD:9068941	20200609	RGD		associated with prostate cancer;protein:increased serine phosphorylation	PMID:23093296|REF_RGD_ID:13506767
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9000989	Pneumococcal Infections	susceptibility	ISO	RGD:735440	D	RGD:9068941	20210618	RGD		DNA:SNP: :(rs1050851) (human)	PMID:29407193|REF_RGD_ID:127285391
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9000989	Pneumococcal Infections	susceptibility	ISO	RGD:735440	D	RGD:9068941	20210625	RGD		DNA:SNPs:enhancers: (rs3138053, rs2233406) (human)	PMID:17463416|REF_RGD_ID:127285388
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9001131	stress-related disorder		ISO	RGD:3171	D	RGD:9068941	20250327	RGD		associated with binge drinking; mRNA:increased expression:hippocampus	PMID:29458194|REF_RGD_ID:598092572
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26806094
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9001708	Hemorrhagic Shock	treatment	ISO	RGD:3171	D	RGD:9068941	20210618	RGD			PMID:11557243|REF_RGD_ID:127285020
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:3171	D	RGD:9068941	20250424	RGD		associated with alcoholic hepatitis	PMID:22019745|REF_RGD_ID:598147059
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:3171	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:brain	PMID:20150961|REF_RGD_ID:10413872
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9003139	Cardiac Fibrosis	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:20231522|REF_RGD_ID:10413875
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:10975	D	RGD:9068941	20200609	RGD			PMID:19399405|REF_RGD_ID:10413870
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:3171	D	RGD:9068941	20200709	RGD			PMID:31828147|REF_RGD_ID:35316072
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:3171	D	RGD:9068941	20210604	RGD			PMID:14662889|REF_RGD_ID:126928138
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9004702	Pregnancy Complications	susceptibility	ISO	RGD:735440	D	RGD:9068941	20201218	RGD		associated with Cytomegalovirus Infections;DNA:SNP:promoter: -94ins/delATTG (human)	PMID:25792174|REF_RGD_ID:11342310
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3171	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney	PMID:22483164|REF_RGD_ID:10413864
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:20188823|REF_RGD_ID:10413873
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9005930	Endotoxemia	exacerbates	ISO	RGD:10975	D	RGD:9068941	20210514	RGD			PMID:19098124|REF_RGD_ID:126908017
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:10975	D	RGD:9068941	20210604	RGD			PMID:10229101|REF_RGD_ID:126928139
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9006262	Cytomegalovirus Infections	susceptibility	ISO	RGD:735440	D	RGD:9068941	20201211	RGD		associated with end stage renal disease;DNA:SNP:promoter: -94ins/delATTG (human)	PMID:30431214|REF_RGD_ID:40902821
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9006302	Binge Drinking		ISO	RGD:3171	D	RGD:9068941	20250327	RGD		mRNA:increased expression:hippocampus	PMID:29458194|REF_RGD_ID:598092572
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9006623	Murine Acquired Immunodeficiency Syndrome		ISO	RGD:10975	D	RGD:9068941	20210625	RGD		protein:decreased expression:lymph node (mouse)	PMID:10429205|REF_RGD_ID:127285021
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9006928	Viral Bronchiolitis	susceptibility	ISO	RGD:735440	D	RGD:9068941	20210625	RGD		associated with respiratory syncytial virus infectious disease;DNA:SNP:promoter: (rs2233406) (human)	PMID:23487427|REF_RGD_ID:40902982
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:735440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9007755	Intestinal Reperfusion Injury	treatment	ISO	RGD:3171	D	RGD:9068941	20230824	RGD			PMID:22079846|REF_RGD_ID:401794136
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:19304943|REF_RGD_ID:10413871
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9008163	Chronic Hepatitis B	disease_progression	ISO	RGD:735440	D	RGD:9068941	20210625	RGD		DNA:enhancers: :(rs2233406, rs2233409) (human)	PMID:29093318|REF_RGD_ID:127285389
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9008824	Sarcopenia		ISO	RGD:3171	D	RGD:9068941	20200609	RGD		protein:increased expression:soleus	PMID:15665035|REF_RGD_ID:10413861
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:735440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9538	multiple myeloma		ISO	RGD:735440	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:12377412|PMID:16540234|REF_RGD_ID:2298895|REF_RGD_ID:2298898
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9588	encephalitis		ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:16006567|REF_RGD_ID:5147676
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9675	pulmonary emphysema	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:20472710|REF_RGD_ID:4891488
8700891	Nfkbia	NFKB inhibitor alpha	gene	DOID:9965	toxoplasmosis	exacerbates	ISO	RGD:735440	D	RGD:9068941	20210528	RGD		human gene in a mouse model	PMID:12626571|REF_RGD_ID:126925984
8700923	Kcnk7	potassium two pore domain channel subfamily K member 7	gene	DOID:1115	sarcoma		ISO	RGD:1604643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8700923	Kcnk7	potassium two pore domain channel subfamily K member 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8700923	Kcnk7	potassium two pore domain channel subfamily K member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8700930	Myh4	myosin heavy chain 4	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:3139	D	RGD:9068941	20220915	RGD			PMID:14973145|REF_RGD_ID:9686059
8700930	Myh4	myosin heavy chain 4	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:3139	D	RGD:9068941	20220915	RGD		associated with Heart Failure;protein:decreased expression:diaphragm	PMID:25060722|REF_RGD_ID:9686065
8701002	Arpc1b	actin related protein 2/3 complex subunit 1B	gene	DOID:0050866	oral squamous cell carcinoma	severity	ISO	RGD:736395	D	RGD:9068941	20200609	RGD		protein:increased expression:oral mucosa (human)	PMID:26138391|REF_RGD_ID:11046268
8701002	Arpc1b	actin related protein 2/3 complex subunit 1B	gene	DOID:0050908	myelodysplastic syndrome	treatment	ISO	RGD:736395	D	RGD:9068941	20200609	RGD			PMID:22608605|REF_RGD_ID:11046272
8701002	Arpc1b	actin related protein 2/3 complex subunit 1B	gene	DOID:0111962	combined immunodeficiency		ISO	RGD:736395	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency	PMID:25741868|PMID:27965109|PMID:28368018|PMID:28492532|PMID:29127144|PMID:32499645
8701002	Arpc1b	actin related protein 2/3 complex subunit 1B	gene	DOID:0112004	immunodeficiency 71		ISO	RGD:736395	D	RGD:7240710	20190315	OMIM			
8701002	Arpc1b	actin related protein 2/3 complex subunit 1B	gene	DOID:0112004	immunodeficiency 71		ISO	RGD:736395	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARPC1B-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA | ClinVar Annotator: match by term: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	PMID:17576681|PMID:25741868|PMID:27965109|PMID:28368018|PMID:28492532|PMID:29127144|PMID:32499645|PMID:33679784|PMID:9536098
8701002	Arpc1b	actin related protein 2/3 complex subunit 1B	gene	DOID:10534	stomach cancer		ISO	RGD:736395	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:gastric epithelium (human)	PMID:15279900|REF_RGD_ID:11046270
8701002	Arpc1b	actin related protein 2/3 complex subunit 1B	gene	DOID:1909	melanoma		ISO	RGD:736395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8701002	Arpc1b	actin related protein 2/3 complex subunit 1B	gene	DOID:2213	hemorrhagic disease		ISO	RGD:736395	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:25741868|PMID:28492532
8701002	Arpc1b	actin related protein 2/3 complex subunit 1B	gene	DOID:2513	basal cell carcinoma		ISO	RGD:736395	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8701002	Arpc1b	actin related protein 2/3 complex subunit 1B	gene	DOID:4029	gastritis		ISO	RGD:736395	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter: (human)	PMID:23292007|REF_RGD_ID:11046273
8701002	Arpc1b	actin related protein 2/3 complex subunit 1B	gene	DOID:5419	schizophrenia		ISO	RGD:736395	D	RGD:9068941	20200609	RGD		protein:decreased expression:prefrontal cortex (human)	PMID:15098003|REF_RGD_ID:11571619
8701002	Arpc1b	actin related protein 2/3 complex subunit 1B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33679784|PMID:9536098
8701002	Arpc1b	actin related protein 2/3 complex subunit 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701002	Arpc1b	actin related protein 2/3 complex subunit 1B	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:736395	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:25741868
8701002	Arpc1b	actin related protein 2/3 complex subunit 1B	gene	DOID:630	genetic disease		ISO	RGD:736395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8701002	Arpc1b	actin related protein 2/3 complex subunit 1B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:736395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8701002	Arpc1b	actin related protein 2/3 complex subunit 1B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8701002	Arpc1b	actin related protein 2/3 complex subunit 1B	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736395	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8701002	Arpc1b	actin related protein 2/3 complex subunit 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8701002	Arpc1b	actin related protein 2/3 complex subunit 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8701022	Yme1l1	YME1 like 1 ATPase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8701022	Yme1l1	YME1 like 1 ATPase	gene	DOID:0060336	3-methylglutaconic aciduria		ISO	RGD:733459	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: 3-Methylglutaconic aciduria	
8701022	Yme1l1	YME1 like 1 ATPase	gene	DOID:0111436	optic atrophy 11		ISO	RGD:733459	D	RGD:7240710	20190315	OMIM			
8701022	Yme1l1	YME1 like 1 ATPase	gene	DOID:0111436	optic atrophy 11		ISO	RGD:733459	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Optic atrophy 11 | ClinVar Annotator: match by term: YME1L1-related condition	PMID:25741868|PMID:28492532
8701022	Yme1l1	YME1 like 1 ATPase	gene	DOID:10534	stomach cancer		ISO	RGD:733459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8701022	Yme1l1	YME1 like 1 ATPase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8701022	Yme1l1	YME1 like 1 ATPase	gene	DOID:1115	sarcoma		ISO	RGD:733459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8701022	Yme1l1	YME1 like 1 ATPase	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:733460	D	RGD:9068941	20220825	MouseDO			
8701022	Yme1l1	YME1 like 1 ATPase	gene	DOID:1909	melanoma		ISO	RGD:733459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8701022	Yme1l1	YME1 like 1 ATPase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8701022	Yme1l1	YME1 like 1 ATPase	gene	DOID:2843	long QT syndrome		ISO	RGD:733459	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8701022	Yme1l1	YME1 like 1 ATPase	gene	DOID:3275	thymoma		ISO	RGD:733459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8701022	Yme1l1	YME1 like 1 ATPase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:733459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8701022	Yme1l1	YME1 like 1 ATPase	gene	DOID:4362	cervical cancer		ISO	RGD:733459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8701022	Yme1l1	YME1 like 1 ATPase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8701022	Yme1l1	YME1 like 1 ATPase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701022	Yme1l1	YME1 like 1 ATPase	gene	DOID:8501	fundus dystrophy		ISO	RGD:733459	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
8701022	Yme1l1	YME1 like 1 ATPase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8701022	Yme1l1	YME1 like 1 ATPase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8701041	Ntf3	neurotrophin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8701041	Ntf3	neurotrophin 3	gene	DOID:0110106	atrial heart septal defect 1		ISO	RGD:732369	D	RGD:9068941	20220825	MouseDO		OMIM:108800	
8701041	Ntf3	neurotrophin 3	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:732368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	
8701041	Ntf3	neurotrophin 3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732368	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.G63E (human)	PMID:9502217|REF_RGD_ID:1358754
8701041	Ntf3	neurotrophin 3	gene	DOID:10908	hydrocephalus		ISO	RGD:732368	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:11580868|REF_RGD_ID:1358755
8701041	Ntf3	neurotrophin 3	gene	DOID:12849	autistic disorder		ISO	RGD:732368	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16289943
8701041	Ntf3	neurotrophin 3	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:732368	D	RGD:9068941	20200609	RGD			PMID:16315781|REF_RGD_ID:4891110
8701041	Ntf3	neurotrophin 3	gene	DOID:13406	pulmonary sarcoidosis	disease_progression	ISO	RGD:732368	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:21059230|REF_RGD_ID:5144061
8701041	Ntf3	neurotrophin 3	gene	DOID:14250	Down syndrome		ISO	RGD:732368	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16289943
8701041	Ntf3	neurotrophin 3	gene	DOID:1574	alcohol use disorder		ISO	RGD:619728	D	RGD:9068941	20231221	RGD		mRNA,protein:decreased expression:hippocampus, plasma (rat)	PMID:30277635|REF_RGD_ID:401938665
8701041	Ntf3	neurotrophin 3	gene	DOID:1574	alcohol use disorder		ISO	RGD:619728	D	RGD:9068941	20240215	RGD		protein:increased expression:brain	PMID:15307153|REF_RGD_ID:401965482
8701041	Ntf3	neurotrophin 3	gene	DOID:1574	alcohol use disorder		ISO	RGD:732368	D	RGD:9068941	20231221	RGD		protein:decreased expression:plasma (human)	PMID:30277635|REF_RGD_ID:401938665
8701041	Ntf3	neurotrophin 3	gene	DOID:1824	status epilepticus		ISO	RGD:619728	D	RGD:9068941	20210205	RGD		RNA:decreased expression: hippocampus	PMID:22019057|REF_RGD_ID:41404707
8701041	Ntf3	neurotrophin 3	gene	DOID:1824	status epilepticus		ISO	RGD:732368	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8635431
8701041	Ntf3	neurotrophin 3	gene	DOID:2841	asthma		ISO	RGD:732368	D	RGD:9068941	20200609	RGD			PMID:11737043|REF_RGD_ID:4891123
8701041	Ntf3	neurotrophin 3	gene	DOID:2841	asthma		ISO	RGD:732369	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, serum	PMID:17497413|REF_RGD_ID:4891068
8701041	Ntf3	neurotrophin 3	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:732368	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:bronchus	PMID:15843147|REF_RGD_ID:4891120
8701041	Ntf3	neurotrophin 3	gene	DOID:5154	borna disease		ISO	RGD:619728	D	RGD:9068941	20240222	RGD		mRNA:decreased expression:hippocampus	PMID:11175319|REF_RGD_ID:2325644
8701041	Ntf3	neurotrophin 3	gene	DOID:5419	schizophrenia		ISO	RGD:732368	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18572319
8701041	Ntf3	neurotrophin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701041	Ntf3	neurotrophin 3	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:732369	D	RGD:9068941	20220825	MouseDO		OMIM:187500	
8701041	Ntf3	neurotrophin 3	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:732368	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16023256
8701041	Ntf3	neurotrophin 3	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:732368	D	RGD:9068941	20200609	RGD			PMID:16022868|REF_RGD_ID:4891112
8701041	Ntf3	neurotrophin 3	gene	DOID:9002211	Hyperalgesia		ISO	RGD:732368	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15659614
8701041	Ntf3	neurotrophin 3	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:732368	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:8921280|PMID:8978711
8701041	Ntf3	neurotrophin 3	gene	DOID:9004354	Alcohol-Related Disorders		ISO	RGD:619728	D	RGD:9068941	20240229	RGD		protein:increased expression:hippocampus,cerebellar vermis	PMID:18652597|REF_RGD_ID:401976540
8701041	Ntf3	neurotrophin 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:732368	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18024279
8701041	Ntf3	neurotrophin 3	gene	DOID:9743	diabetic neuropathy		ISO	RGD:732368	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11779407
8701050	Dhrsx	dehydrogenase/reductase X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8701050	Dhrsx	dehydrogenase/reductase X-linked	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8701050	Dhrsx	dehydrogenase/reductase X-linked	gene	DOID:1324	lung cancer		ISO	RGD:1344855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8701050	Dhrsx	dehydrogenase/reductase X-linked	gene	DOID:1909	melanoma		ISO	RGD:1344855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8701050	Dhrsx	dehydrogenase/reductase X-linked	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701050	Dhrsx	dehydrogenase/reductase X-linked	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8701050	Dhrsx	dehydrogenase/reductase X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8701050	Dhrsx	dehydrogenase/reductase X-linked	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8701050	Dhrsx	dehydrogenase/reductase X-linked	gene	DOID:9009263	Congenital disorder of glycosylation, type 1DD		ISO	RGD:1344855	D	RGD:7240710	20241218	OMIM			
8701050	Dhrsx	dehydrogenase/reductase X-linked	gene	DOID:9009263	Congenital disorder of glycosylation, type 1DD		ISO	RGD:1344855	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1DD	
8701050	Dhrsx	dehydrogenase/reductase X-linked	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:0050952	spastic ataxia		ISO	RGD:1319491	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1319491	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:28492532
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:0080855	Parkinsonism		ISO	RGD:1319491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonism	PMID:25741868
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:0110734	neurodegeneration with brain iron accumulation		ISO	RGD:1319491	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Iron accumulation in brain | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation	PMID:21981780|PMID:22584950|PMID:23166001|PMID:23269600|PMID:23278385|PMID:23436634|PMID:23494994|PMID:23857908|PMID:24033266|PMID:24209434|PMID:24361204|PMID:25592411|PMID:25741868|PMID:27801611|PMID:28347615|PMID:28492532|PMID:28832565|PMID:30088953|PMID:31087512|PMID:31518459|PMID:31970231|PMID:32552793|PMID:32581362|PMID:33607528
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:0110736	neurodegeneration with brain iron accumulation 2B		ISO	RGD:1319491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2B	PMID:25741868
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:0110738	neurodegeneration with brain iron accumulation 4		ISO	RGD:1319491	D	RGD:7240710	20180130	OMIM			
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:0110738	neurodegeneration with brain iron accumulation 4		ISO	RGD:1319491	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: C19orf12-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4	PMID:17576681|PMID:18414213|PMID:20039086|PMID:21981780|PMID:22508347|PMID:22584950|PMID:23166001|PMID:23269600|PMID:23278385|PMID:23436634|PMID:23494994|PMID:23857908|PMID:24033266|PMID:24209434|PMID:25592411|PMID:25741868|PMID:26187298|PMID:26539891|PMID:27112773|PMID:27801611|PMID:28347615|PMID:28492532|PMID:29389947|PMID:29915382|PMID:30088953|PMID:30369941|PMID:31087512|PMID:31105013|PMID:31518459|PMID:31970231|PMID:32581362|PMID:33134513|PMID:33607528|PMID:34022688|PMID:34234304|PMID:34272103|PMID:9536098
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:0110795	hereditary spastic paraplegia 43		ISO	RGD:1319491	D	RGD:7240710	20180130	OMIM			
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:0110795	hereditary spastic paraplegia 43		ISO	RGD:1319491	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive	PMID:17576681|PMID:18414213|PMID:20039086|PMID:21981780|PMID:22584950|PMID:23166001|PMID:23269600|PMID:23278385|PMID:23436634|PMID:23494994|PMID:23857908|PMID:24033266|PMID:24209434|PMID:24361204|PMID:25592411|PMID:25741868|PMID:26187298|PMID:27112773|PMID:27801611|PMID:28347615|PMID:28492532|PMID:28832565|PMID:29915382|PMID:30088953|PMID:30369941|PMID:31087512|PMID:31105013|PMID:31518459|PMID:31970231|PMID:32552793|PMID:32581362|PMID:33607528|PMID:33688131|PMID:34022688|PMID:34234304|PMID:35188090|PMID:9536098
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:0110810	hereditary spastic paraplegia 5A		ISO	RGD:1319491	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	PMID:25741868|PMID:28492532
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:0111253	neurofibromatosis 1		ISO	RGD:1319491	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Peripheral type neurofibromatosis	PMID:22584950|PMID:23857908|PMID:25741868|PMID:28492532|PMID:31518459
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:1059	intellectual disability		ISO	RGD:1319491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26539891
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:10907	microcephaly		ISO	RGD:1319491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:23166001|PMID:25741868
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:1115	sarcoma		ISO	RGD:1319491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1319491	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:21981780|PMID:23269600|PMID:24361204|PMID:25741868|PMID:27112773|PMID:28492532|PMID:28832565|PMID:31087512|PMID:31105013|PMID:32552793
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:3275	thymoma		ISO	RGD:1319491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:5041	esophageal cancer		ISO	RGD:1319491	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:543	dystonia		ISO	RGD:1319491	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:21981780|PMID:22584950|PMID:23166001|PMID:23269600|PMID:23494994|PMID:23857908|PMID:24033266|PMID:25592411|PMID:25741868|PMID:28492532|PMID:30088953|PMID:31518459|PMID:33607528
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:630	genetic disease		ISO	RGD:1319491	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20039086|PMID:23857908|PMID:25741868|PMID:28492532|PMID:29915382|PMID:30369941|PMID:34022688|PMID:34234304
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:9000495	Tremor		ISO	RGD:1319491	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tremor | ClinVar Annotator: match by term: tremors	PMID:21981780|PMID:23269600|PMID:23494994|PMID:23857908|PMID:24033266|PMID:25592411|PMID:25741868|PMID:28492532|PMID:30088953
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:9001722	Dysarthria		ISO	RGD:1319491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:21981780|PMID:22584950|PMID:23166001|PMID:23278385|PMID:23436634|PMID:24209434|PMID:25592411|PMID:25741868|PMID:27801611|PMID:28347615|PMID:28492532|PMID:31970231|PMID:32581362|PMID:33607528
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1319491	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21397856
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1319491	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive decline	PMID:21981780|PMID:23269600|PMID:23494994|PMID:23857908|PMID:24033266|PMID:25592411|PMID:25741868|PMID:28492532|PMID:30088953
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:9003507	Premature Birth		ISO	RGD:1319491	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1319491	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868|PMID:28492532
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:9004866	Ataxia		ISO	RGD:1319491	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:21981780|PMID:22584950|PMID:23166001|PMID:23278385|PMID:23436634|PMID:23857908|PMID:24209434|PMID:25592411|PMID:25741868|PMID:27801611|PMID:28347615|PMID:28492532|PMID:31518459|PMID:31970231|PMID:32581362|PMID:33607528
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:9005077	Joint Instability		ISO	RGD:1319491	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1319491	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:22584950|PMID:23857908|PMID:25741868|PMID:28492532|PMID:31518459|PMID:33607528
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:9007736	Vertigo		ISO	RGD:1319491	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23166001|PMID:25741868|PMID:26539891
8701061	LOC102011427	chromosome unknown open reading frame, human C19orf12	gene	DOID:9834	hyperopia		ISO	RGD:1319491	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
8701075	Ccdc92	coiled-coil domain containing 92	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8701075	Ccdc92	coiled-coil domain containing 92	gene	DOID:1909	melanoma		ISO	RGD:1604596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8701075	Ccdc92	coiled-coil domain containing 92	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701075	Ccdc92	coiled-coil domain containing 92	gene	DOID:9000528	Coronary Disease		ISO	RGD:1604596	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
8701075	Ccdc92	coiled-coil domain containing 92	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8701075	Ccdc92	coiled-coil domain containing 92	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1604596	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
8701098	Usb1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:0060551	poikiloderma with neutropenia		ISO	RGD:1606230	D	RGD:7240710	20190315	OMIM			
8701098	Usb1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:0060551	poikiloderma with neutropenia		ISO	RGD:1606230	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: POIKILODERMA WITH NEUTROPENIA | ClinVar Annotator: match by term: Poikiloderma with neutropenia | ClinVar Annotator: match by term: USB1-related condition	PMID:16199547|PMID:17576681|PMID:20004881|PMID:20618321|PMID:20817924|PMID:21271650|PMID:21872685|PMID:21967010|PMID:23190533|PMID:24033266|PMID:25044170|PMID:25741868|PMID:27612988|PMID:28492532|PMID:29982244|PMID:31522452|PMID:32897901|PMID:9536098
8701098	Usb1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8701098	Usb1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8701098	Usb1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8701098	Usb1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606230	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8701098	Usb1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701098	Usb1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:630	genetic disease		ISO	RGD:1606230	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8701106	Scimp	SLP adaptor and CSK interacting membrane protein	gene	DOID:0080600	COVID-19		ISO	RGD:1604451	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8701115	Soat2	sterol O-acyltransferase 2	gene	DOID:10211	cholelithiasis	susceptibility	ISO	RGD:730964	D	RGD:9068941	20200609	RGD			PMID:11100118|REF_RGD_ID:1556516
8701115	Soat2	sterol O-acyltransferase 2	gene	DOID:10608	celiac disease		ISO	RGD:730963	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
8701115	Soat2	sterol O-acyltransferase 2	gene	DOID:1184	nephrotic syndrome		ISO	RGD:628865	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver	PMID:11967026|REF_RGD_ID:730139
8701115	Soat2	sterol O-acyltransferase 2	gene	DOID:2349	arteriosclerosis	susceptibility	ISO	RGD:730964	D	RGD:9068941	20200609	RGD			PMID:17431188|REF_RGD_ID:1625282
8701115	Soat2	sterol O-acyltransferase 2	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:730963	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :p.E41G, p.T734I, IVS4-57_-58ins48bp (human)	PMID:16195894|REF_RGD_ID:1601112
8701115	Soat2	sterol O-acyltransferase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:730963	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8701115	Soat2	sterol O-acyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730963	D	RGD:9068941	20200609	RGD			PMID:16274362|REF_RGD_ID:1581190
8701115	Soat2	sterol O-acyltransferase 2	gene	DOID:783	end stage renal disease		ISO	RGD:628865	D	RGD:9068941	20200609	RGD			PMID:12217884|REF_RGD_ID:625687
8701115	Soat2	sterol O-acyltransferase 2	gene	DOID:9000808	Hypercholesterolemia	susceptibility	ISO	RGD:730964	D	RGD:9068941	20200609	RGD			PMID:11100118|REF_RGD_ID:1556516
8701115	Soat2	sterol O-acyltransferase 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:628865	D	RGD:9068941	20200609	RGD			PMID:15242859|REF_RGD_ID:1581191
8701115	Soat2	sterol O-acyltransferase 2	gene	DOID:9006646	Metabolic Syndrome	susceptibility	ISO	RGD:730963	D	RGD:9068941	20200609	RGD		DNA:SNPs	PMID:14557872|REF_RGD_ID:1581921
8701115	Soat2	sterol O-acyltransferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8701115	Soat2	sterol O-acyltransferase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:730963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:0060500	drug allergy		ISO	RGD:733644	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20485159
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:0081214	autosomal recessive intellectual developmental disorder 51		ISO	RGD:733644	D	RGD:7240710	20260722	OMIM			
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:0081214	autosomal recessive intellectual developmental disorder 51		ISO	RGD:733644	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 51	
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:733644	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:733644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:11870	Pick's disease		ISO	RGD:733644	D	RGD:9068941	20200609	RGD			PMID:11880199|REF_RGD_ID:5509779
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:12849	autistic disorder		ISO	RGD:733644	D	RGD:9068941	20250508	CTD		CTD Direct Evidence: marker/mechanism	PMID:33310825
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:12858	Huntington's disease		ISO	RGD:733644	D	RGD:9068941	20200609	RGD			PMID:21106039|REF_RGD_ID:5509774
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:14250	Down syndrome		ISO	RGD:733644	D	RGD:9068941	20200609	RGD			PMID:11880199|REF_RGD_ID:5509779
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:14330	Parkinson's disease		ISO	RGD:733644	D	RGD:9068941	20200609	RGD			PMID:17985251|REF_RGD_ID:5509778
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:14330	Parkinson's disease	no_association	ISO	RGD:733644	D	RGD:9068941	20200609	RGD			PMID:19773194|REF_RGD_ID:5509775
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:1555	urticaria		ISO	RGD:733644	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20485159
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:1882	atrial heart septal defect		ISO	RGD:733644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:2841	asthma		ISO	RGD:733644	D	RGD:7240710	20260722	OMIM			
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:2841	asthma		ISO	RGD:733644	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HNMT-related condition	PMID:28492532
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:2841	asthma	no_association	ISO	RGD:733644	D	RGD:9068941	20200609	RGD			PMID:15693910|PMID:16205835|PMID:17651147|REF_RGD_ID:5128885|REF_RGD_ID:5128887|REF_RGD_ID:5128888
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:3275	thymoma		ISO	RGD:733644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:3310	atopic dermatitis		ISO	RGD:733644	D	RGD:9068941	20200609	RGD			PMID:19025430|REF_RGD_ID:5128889
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:3454	brain infarction	severity	ISO	RGD:71049	D	RGD:9068941	20200609	RGD			PMID:16330002|PMID:21131122|REF_RGD_ID:5509772|REF_RGD_ID:5509773
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:733644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:4483	rhinitis		ISO	RGD:733644	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17651147
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:4483	rhinitis	no_association	ISO	RGD:733644	D	RGD:9068941	20200609	RGD			PMID:17651147|REF_RGD_ID:5128885
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:4990	essential tremor		ISO	RGD:733644	D	RGD:9068941	20200609	RGD			PMID:18543121|REF_RGD_ID:5509776
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:4990	essential tremor	no_association	ISO	RGD:733644	D	RGD:9068941	20200609	RGD			PMID:19773194|REF_RGD_ID:5509775
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:5419	schizophrenia	no_association	ISO	RGD:733644	D	RGD:9068941	20200609	RGD			PMID:10898922|REF_RGD_ID:5509780
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:77	gastrointestinal system disease		ISO	RGD:733644	D	RGD:9068941	20250508	CTD		CTD Direct Evidence: marker/mechanism	PMID:33310825
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:8577	ulcerative colitis		ISO	RGD:733644	D	RGD:9068941	20200609	RGD			PMID:18340362|REF_RGD_ID:5509777
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:9000772	Bronchial Hyperreactivity	no_association	ISO	RGD:733644	D	RGD:9068941	20200609	RGD			PMID:15693910|REF_RGD_ID:5128888
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:9002111	Dyssomnias		ISO	RGD:733644	D	RGD:9068941	20250508	CTD		CTD Direct Evidence: marker/mechanism	PMID:33310825
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:9003816	Macrocephaly		ISO	RGD:733644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:9005466	Language Development Disorders		ISO	RGD:733644	D	RGD:9068941	20250508	CTD		CTD Direct Evidence: marker/mechanism	PMID:33310825
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733644	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8701161	Hnmt	histamine N-methyltransferase	gene	DOID:9256	colorectal cancer		ISO	RGD:733644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8701178	Lrrn4cl	LRRN4 C-terminal like	gene	DOID:4362	cervical cancer		ISO	RGD:1603349	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8701178	Lrrn4cl	LRRN4 C-terminal like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701184	Tom1l2	target of myb1 like 2 membrane trafficking protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8701184	Tom1l2	target of myb1 like 2 membrane trafficking protein	gene	DOID:1115	sarcoma		ISO	RGD:1315512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8701184	Tom1l2	target of myb1 like 2 membrane trafficking protein	gene	DOID:1324	lung cancer		ISO	RGD:1315512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8701184	Tom1l2	target of myb1 like 2 membrane trafficking protein	gene	DOID:4362	cervical cancer		ISO	RGD:1315512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8701184	Tom1l2	target of myb1 like 2 membrane trafficking protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701184	Tom1l2	target of myb1 like 2 membrane trafficking protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8701184	Tom1l2	target of myb1 like 2 membrane trafficking protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8701229	Capn7	calpain 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8701229	Capn7	calpain 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8701229	Capn7	calpain 7	gene	DOID:1324	lung cancer		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8701229	Capn7	calpain 7	gene	DOID:1909	melanoma		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8701229	Capn7	calpain 7	gene	DOID:2394	ovarian cancer		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8701229	Capn7	calpain 7	gene	DOID:3275	thymoma		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8701229	Capn7	calpain 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8701229	Capn7	calpain 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8701229	Capn7	calpain 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8701229	Capn7	calpain 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1312532	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8701229	Capn7	calpain 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701229	Capn7	calpain 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8701229	Capn7	calpain 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8701229	Capn7	calpain 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8701261	Septin11	septin 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8701261	Septin11	septin 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8701261	Septin11	septin 11	gene	DOID:0050950	autosomal recessive cerebellar ataxia		ISO	RGD:1349067	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia	PMID:25741868
8701261	Septin11	septin 11	gene	DOID:10534	stomach cancer		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8701261	Septin11	septin 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8701261	Septin11	septin 11	gene	DOID:1324	lung cancer		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8701261	Septin11	septin 11	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1349067	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16823967
8701261	Septin11	septin 11	gene	DOID:3275	thymoma		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8701261	Septin11	septin 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701261	Septin11	septin 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8701279	Sec62	SEC62 homolog, preprotein translocation factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8701279	Sec62	SEC62 homolog, preprotein translocation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8701279	Sec62	SEC62 homolog, preprotein translocation factor	gene	DOID:10534	stomach cancer		ISO	RGD:1318878	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8701279	Sec62	SEC62 homolog, preprotein translocation factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8701279	Sec62	SEC62 homolog, preprotein translocation factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1318878	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8701279	Sec62	SEC62 homolog, preprotein translocation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701279	Sec62	SEC62 homolog, preprotein translocation factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8701279	Sec62	SEC62 homolog, preprotein translocation factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8701332	Csdc2	cold shock domain containing C2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8701332	Csdc2	cold shock domain containing C2	gene	DOID:10534	stomach cancer		ISO	RGD:1603657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8701332	Csdc2	cold shock domain containing C2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8701340	Tspan5	tetraspanin 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8701340	Tspan5	tetraspanin 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8701340	Tspan5	tetraspanin 5	gene	DOID:10283	prostate cancer		ISO	RGD:1602132	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8701340	Tspan5	tetraspanin 5	gene	DOID:10283	prostate cancer		ISO	RGD:1602132	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8701340	Tspan5	tetraspanin 5	gene	DOID:1909	melanoma		ISO	RGD:1602132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8701340	Tspan5	tetraspanin 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701340	Tspan5	tetraspanin 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8701357	Chrac1	chromatin accessibility complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8701357	Chrac1	chromatin accessibility complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8701357	Chrac1	chromatin accessibility complex subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8701357	Chrac1	chromatin accessibility complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701357	Chrac1	chromatin accessibility complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8701357	Chrac1	chromatin accessibility complex subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8701367	Vps37d	VPS37D subunit of ESCRT-I	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1349183	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8701367	Vps37d	VPS37D subunit of ESCRT-I	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701367	Vps37d	VPS37D subunit of ESCRT-I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8701375	Tasor2	transcription activation suppressor family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8701375	Tasor2	transcription activation suppressor family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8701375	Tasor2	transcription activation suppressor family member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8701375	Tasor2	transcription activation suppressor family member 2	gene	DOID:1115	sarcoma		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8701375	Tasor2	transcription activation suppressor family member 2	gene	DOID:1909	melanoma		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8701375	Tasor2	transcription activation suppressor family member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8701375	Tasor2	transcription activation suppressor family member 2	gene	DOID:3070	high grade glioma		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8701375	Tasor2	transcription activation suppressor family member 2	gene	DOID:3275	thymoma		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8701375	Tasor2	transcription activation suppressor family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8701375	Tasor2	transcription activation suppressor family member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8701375	Tasor2	transcription activation suppressor family member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8701375	Tasor2	transcription activation suppressor family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343867	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8701375	Tasor2	transcription activation suppressor family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701375	Tasor2	transcription activation suppressor family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8701375	Tasor2	transcription activation suppressor family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8701375	Tasor2	transcription activation suppressor family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8701428	Tex12	testis expressed 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8701428	Tex12	testis expressed 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8701428	Tex12	testis expressed 12	gene	DOID:10534	stomach cancer		ISO	RGD:1351277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8701428	Tex12	testis expressed 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1351277	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8701428	Tex12	testis expressed 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1321127	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cone-rod degeneration	
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:0080600	COVID-19		ISO	RGD:1321127	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:0111013	cone-rod dystrophy 3		ISO	RGD:12354473	D	RGD:9068941	20250501	OMIA		Retinal atrophy - Cone-rod dystrophy 3	PMID:20691256|PMID:20806078|PMID:22065099|PMID:38334230
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:0111020	cone-rod dystrophy 9		ISO	RGD:1321127	D	RGD:7240710	20180130	OMIM			
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:0111020	cone-rod dystrophy 9		ISO	RGD:1321127	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ADAM9-related condition | ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 9 | ClinVar Annotator: match by term: Cone-rod dystrophy 9	PMID:17576681|PMID:19409519|PMID:25741868|PMID:28492532|PMID:31690835|PMID:9536098
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:10534	stomach cancer		ISO	RGD:1321127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321127	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:26261414|PMID:28492532|PMID:31456290
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:10652	Alzheimer's disease		ISO	RGD:621473	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus	PMID:24792732|REF_RGD_ID:13703037
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:1115	sarcoma		ISO	RGD:1321127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:1793	pancreatic cancer		ISO	RGD:1321127	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas, epithelial cell	PMID:17465204|REF_RGD_ID:2325247
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:1824	status epilepticus		ISO	RGD:621473	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dentate gyrus	PMID:15950787|REF_RGD_ID:1559151
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:3070	high grade glioma		ISO	RGD:1321127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1321127	D	RGD:9068941	20231019	RGD		protein:increased expression:pulmonary artery	PMID:36522710|REF_RGD_ID:401850545
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:3275	thymoma		ISO	RGD:1321127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:3587	pancreatic ductal carcinoma	disease_progression	ISO	RGD:1321127	D	RGD:9068941	20200609	RGD		protein:altered localization:cytoplasm	PMID:14997207|REF_RGD_ID:2325249
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:4362	cervical cancer		ISO	RGD:1321127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:630	genetic disease		ISO	RGD:1321127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:8501	fundus dystrophy		ISO	RGD:1321127	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:1321127	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:19473694|REF_RGD_ID:2325246
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1321127	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17018608
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1321127	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:19473694|REF_RGD_ID:2325246
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8701449	Adam9	ADAM metallopeptidase domain 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8701483	Neo1	neogenin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8701483	Neo1	neogenin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8701483	Neo1	neogenin 1	gene	DOID:0080600	COVID-19		ISO	RGD:733424	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8701483	Neo1	neogenin 1	gene	DOID:10534	stomach cancer		ISO	RGD:733424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8701483	Neo1	neogenin 1	gene	DOID:1115	sarcoma		ISO	RGD:733424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8701483	Neo1	neogenin 1	gene	DOID:1909	melanoma		ISO	RGD:733424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8701483	Neo1	neogenin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8701483	Neo1	neogenin 1	gene	DOID:3275	thymoma		ISO	RGD:733424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8701483	Neo1	neogenin 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:733424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8701483	Neo1	neogenin 1	gene	DOID:4362	cervical cancer		ISO	RGD:733424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8701483	Neo1	neogenin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8701483	Neo1	neogenin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733424	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8701483	Neo1	neogenin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701483	Neo1	neogenin 1	gene	DOID:6039	uveal melanoma		ISO	RGD:733424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8701483	Neo1	neogenin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8701483	Neo1	neogenin 1	gene	DOID:9002560	Penetrating Eye Injuries		ISO	RGD:619837	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:21887516|REF_RGD_ID:9850142
8701483	Neo1	neogenin 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:733424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8701483	Neo1	neogenin 1	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:619837	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:21887516|REF_RGD_ID:9850142
8701483	Neo1	neogenin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8701517	LOC102030009	cytochrome c oxidase subunit 7B2, mitochondrial	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353874	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1320101	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness	PMID:25741868|PMID:28492532|PMID:36909829
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1320101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:11301032|PMID:21447491|PMID:2392416|PMID:25356976|PMID:25429852|PMID:25741868|PMID:28492532|PMID:31872526
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:0050683	Bothnia retinal dystrophy		ISO	RGD:1320101	D	RGD:7240710	20180130	OMIM			
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:0050683	Bothnia retinal dystrophy		ISO	RGD:1320101	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bothnia retinal dystrophy | ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHY	PMID:10102299|PMID:11301032|PMID:11453974|PMID:11868161|PMID:14718298|PMID:16199547|PMID:17065479|PMID:19339744|PMID:21151602|PMID:21447491|PMID:23105016|PMID:2392416|PMID:25307992|PMID:25356976|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28492532|PMID:31872526|PMID:33188265|PMID:9326942
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:0111015	Newfoundland cone-rod dystrophy		ISO	RGD:1320101	D	RGD:7240710	20180130	OMIM			
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:0111015	Newfoundland cone-rod dystrophy		ISO	RGD:1320101	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: NEWFOUNDLAND ROD-CONE DYSTROPHY | ClinVar Annotator: match by term: Newfoundland cone-rod dystrophy	PMID:10102299|PMID:11301032|PMID:11453974|PMID:11868161|PMID:14718298|PMID:16199547|PMID:17065479|PMID:17576681|PMID:19339744|PMID:21151602|PMID:21447491|PMID:23105016|PMID:2392416|PMID:24265693|PMID:25307992|PMID:25356976|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28492532|PMID:31872526|PMID:33188265|PMID:34795310|PMID:9326942|PMID:9536098
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320101	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:12536144|PMID:14718298|PMID:15953459|PMID:17065479|PMID:18344446|PMID:19339744|PMID:19846785|PMID:20238024|PMID:22164218|PMID:22171637|PMID:22183382|PMID:22551409|PMID:23105016|PMID:23929416|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31456290|PMID:32188692|PMID:33188265|PMID:33851411|PMID:34410188|PMID:34795310|PMID:36247817|PMID:9326942
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320101	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:12536144|PMID:14718298|PMID:15953459|PMID:17065479|PMID:18344446|PMID:19339744|PMID:19846785|PMID:20238024|PMID:22164218|PMID:22171637|PMID:22183382|PMID:22551409|PMID:23105016|PMID:23929416|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31456290|PMID:32188692|PMID:32552793|PMID:33188265|PMID:33851411|PMID:34410188|PMID:34426522|PMID:34795310|PMID:36247817|PMID:9326942
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320101	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:12536144|PMID:14718298|PMID:15953459|PMID:17065479|PMID:17576681|PMID:18344446|PMID:19339744|PMID:19846785|PMID:20238024|PMID:21447491|PMID:22164218|PMID:22171637|PMID:22183382|PMID:22551409|PMID:23105016|PMID:23929416|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31456290|PMID:32188692|PMID:32552793|PMID:33188265|PMID:33851411|PMID:34410188|PMID:34426522|PMID:34795310|PMID:36247817|PMID:9326942|PMID:9536098
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320101	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10102298|PMID:10102299|PMID:11301032|PMID:11453974|PMID:12536144|PMID:14718298|PMID:15234312|PMID:15953459|PMID:16199547|PMID:17065479|PMID:17576681|PMID:18344446|PMID:19339744|PMID:19846785|PMID:20238024|PMID:21151602|PMID:21447491|PMID:22171637|PMID:22183382|PMID:23105016|PMID:2392416|PMID:23929416|PMID:24265693|PMID:25307992|PMID:25356976|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28492532|PMID:30718709|PMID:31456290|PMID:31872526|PMID:33188265|PMID:33576794|PMID:33851411|PMID:34795310|PMID:35456422|PMID:36247817|PMID:36460718|PMID:9326942|PMID:9536098
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:11105	fundus albipunctatus		ISO	RGD:1320101	D	RGD:7240710	20180130	OMIM			
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:11105	fundus albipunctatus		ISO	RGD:1320101	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens	PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:11868161|PMID:12536144|PMID:15234312|PMID:15953459|PMID:18344446|PMID:19846785|PMID:20238024|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:23105016|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:32188692|PMID:33188265|PMID:9326942
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:11105	fundus albipunctatus		ISO	RGD:1320101	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens | ClinVar Annotator: match by term: Retinitis punctata albescens, autosomal dominant	PMID:10102298|PMID:10102299|PMID:11301032|PMID:11449319|PMID:11453974|PMID:11868161|PMID:12536144|PMID:14718298|PMID:15234312|PMID:15953459|PMID:17576681|PMID:18344446|PMID:19846785|PMID:20238024|PMID:21447491|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:23105016|PMID:2392416|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25356976|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:31456290|PMID:31872526|PMID:32188692|PMID:33188265|PMID:33851411|PMID:34795310|PMID:9326942|PMID:9536098
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:11105	fundus albipunctatus		ISO	RGD:1320101	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens	PMID:10102298|PMID:10102299|PMID:11301032|PMID:11449319|PMID:11453974|PMID:11868161|PMID:14718298|PMID:15234312|PMID:15953459|PMID:16199547|PMID:17065479|PMID:19339744|PMID:21151602|PMID:21447491|PMID:22171637|PMID:23105016|PMID:2392416|PMID:24265693|PMID:25307992|PMID:25356976|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28492532|PMID:31872526|PMID:33188265|PMID:33851411|PMID:34795310|PMID:9326942
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1320101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:11453974|PMID:14718298|PMID:23105016|PMID:25307992|PMID:25741868|PMID:26355662|PMID:28492532|PMID:33188265|PMID:9326942
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1320101	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:11453974|PMID:14718298|PMID:17065479|PMID:19339744|PMID:21151602|PMID:23105016|PMID:25307992|PMID:25741868|PMID:26355662|PMID:28492532|PMID:33188265|PMID:9326942
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1320101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:4448	macular degeneration		ISO	RGD:1320101	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30742112
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:5679	retinal disease		ISO	RGD:1320101	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:10102299|PMID:12536144|PMID:18344446|PMID:22551409|PMID:25741868|PMID:28492532|PMID:33851411
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:5723	optic atrophy		ISO	RGD:1320101	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:630	genetic disease		ISO	RGD:1320101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:8499	night blindness		ISO	RGD:1320101	D	RGD:9068941	20200609	RGD		Fundus albipunctatus, OMIM:180090	PMID:11453974|REF_RGD_ID:1599620
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1320101	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10102299|PMID:11301032|PMID:17065479|PMID:21447491|PMID:22559933|PMID:2392416|PMID:23929416|PMID:24265693|PMID:24339724|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26103963|PMID:26355662|PMID:28041643|PMID:28492532|PMID:32188692|PMID:32552793|PMID:33851411|PMID:34426522|PMID:34795310|PMID:36247817|PMID:36259723|PMID:36909829|PMID:37883093|PMID:38470931|PMID:38945349
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:9002525	Hereditary Eye Diseases		ISO	RGD:1320101	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16968212
8701528	Rlbp1	retinaldehyde binding protein 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1320101	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:11453974|PMID:14718298|PMID:17065479|PMID:19339744|PMID:21151602|PMID:23105016|PMID:25307992|PMID:25741868|PMID:26355662|PMID:28492532|PMID:33188265|PMID:9326942
8701550	St7l	suppression of tumorigenicity 7 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8701550	St7l	suppression of tumorigenicity 7 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8701550	St7l	suppression of tumorigenicity 7 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8701550	St7l	suppression of tumorigenicity 7 like	gene	DOID:1115	sarcoma		ISO	RGD:1342887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8701550	St7l	suppression of tumorigenicity 7 like	gene	DOID:3275	thymoma		ISO	RGD:1342887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8701550	St7l	suppression of tumorigenicity 7 like	gene	DOID:4362	cervical cancer		ISO	RGD:1342887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8701550	St7l	suppression of tumorigenicity 7 like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8701550	St7l	suppression of tumorigenicity 7 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1342887	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8701550	St7l	suppression of tumorigenicity 7 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701550	St7l	suppression of tumorigenicity 7 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: Hepatoma	
8701550	St7l	suppression of tumorigenicity 7 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8701572	Mydgf	myeloid derived growth factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8701572	Mydgf	myeloid derived growth factor	gene	DOID:0080600	COVID-19		ISO	RGD:1345552	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8701572	Mydgf	myeloid derived growth factor	gene	DOID:1324	lung cancer		ISO	RGD:1345552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8701572	Mydgf	myeloid derived growth factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8701572	Mydgf	myeloid derived growth factor	gene	DOID:9000058	Keloid		ISO	RGD:1345552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:0051061	stroke		ISO	RGD:1349627	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9445356
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:0051061	stroke		ISO	RGD:1596428	D	RGD:9068941	20200609	RGD			PMID:15678115|REF_RGD_ID:2316358
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:0060573	von Willebrand's disease 1	severity	ISO	RGD:1349627	D	RGD:9068941	20200609	RGD		DNA:haplotype:cds:	PMID:15226188|REF_RGD_ID:10766468
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:0060574	von Willebrand's disease 2	no_association	ISO	RGD:1349627	D	RGD:9068941	20200609	RGD		DNA:haplotype::	PMID:16409463|REF_RGD_ID:10766469
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:0060691	platelet-type bleeding disorder 16		ISO	RGD:1349627	D	RGD:7240710	20180130	OMIM			
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:0060691	platelet-type bleeding disorder 16		ISO	RGD:1349627	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Platelet-type bleeding disorder 16	PMID:12181054|PMID:1317725|PMID:15099289|PMID:18065693|PMID:19691478|PMID:19805198|PMID:20020534|PMID:20081061|PMID:21113249|PMID:21454453|PMID:21917754|PMID:22102273|PMID:22190468|PMID:24498605|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25749862|PMID:25944497|PMID:27469266|PMID:27607598|PMID:27696190|PMID:28492532|PMID:28748566|PMID:29675921|PMID:30138987|PMID:31064749|PMID:32237906|PMID:33276370|PMID:36519321|PMID:38604226|PMID:9215749|PMID:9473221|PMID:9722314|PMID:9763559|PMID:9834222
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:0060692	platelet-type bleeding disorder 8		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation	PMID:11798398|PMID:19691478|PMID:21557682|PMID:24418945|PMID:25728920|PMID:25741868|PMID:27607598|PMID:28492532|PMID:29675921|PMID:32237906
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:1115	sarcoma		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:1247	blood coagulation disease		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:25741868
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:1324	lung cancer		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:1588	thrombocytopenia		ISO	RGD:1349627	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia | ClinVar Annotator: match by term: thrombocytopenia	PMID:12008952|PMID:12575292|PMID:18065693|PMID:19805198|PMID:20081061|PMID:21454453|PMID:22102273|PMID:25373348|PMID:25728920|PMID:25741868|PMID:25749862|PMID:25944497|PMID:27469266|PMID:28492532|PMID:29090484|PMID:31064749|PMID:31119735|PMID:31691484|PMID:32581362|PMID:33276370|PMID:9215749|PMID:9834222
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:11798398|PMID:19691478|PMID:21113249|PMID:21557682|PMID:24418945|PMID:25728920|PMID:25741868|PMID:27607598|PMID:27696190|PMID:28492532|PMID:29675921|PMID:32237906|PMID:9473221
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:2219	Glanzmann's thrombasthenia		ISO	RGD:1349627	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia | ClinVar Annotator: match by term: THROMBASTHENIA OF GLANZMANN AND NAEGELI | ClinVar Annotator: match by term: Thrombasthenia of Glanzmann and Naegeli	PMID:10607701|PMID:11091187|PMID:11798398|PMID:12083483|PMID:12181054|PMID:12424194|PMID:12506038|PMID:1317725|PMID:14687991|PMID:15099289|PMID:15219201|PMID:15717695|PMID:15748238|PMID:15886807|PMID:16199547|PMID:16463284|PMID:16722529|PMID:17576681|PMID:18065693|PMID:18422845|PMID:18788610|PMID:18791937|PMID:18976939|PMID:19170775|PMID:19172520|PMID:19175981|PMID:19691478|PMID:19734576|PMID:19805198|PMID:19821948|PMID:20020534|PMID:20081061|PMID:2014236|PMID:20492470|PMID:20819594|PMID:21029361|PMID:21113249|PMID:21454453|PMID:21557682|PMID:21917754|PMID:22102273|PMID:22190468|PMID:22250950|PMID:22738334|PMID:23305224|PMID:24418945|PMID:25275492|PMID:25373348|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25749862|PMID:25827233|PMID:25944497|PMID:26096001|PMID:27469266|PMID:27607598|PMID:27696190|PMID:28232155|PMID:28492532|PMID:28748566|PMID:28808266|PMID:28888044|PMID:28983057|PMID:29090484|PMID:29385657|PMID:29483666|PMID:29675921|PMID:30138987|PMID:30792900|PMID:31064749|PMID:31119735|PMID:32089034|PMID:32139434|PMID:32237906|PMID:32581362|PMID:32757236|PMID:33276370|PMID:33496739|PMID:33928629|PMID:34267460|PMID:34275420|PMID:34355501|PMID:36519321|PMID:36964972|PMID:37647632|PMID:9215749|PMID:9473221|PMID:9536098|PMID:9722314|PMID:9763559|PMID:9834222|PMID:9920835
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:1349627	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung (human)	PMID:19635508|REF_RGD_ID:5490168
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:3410	carotid artery thrombosis		ISO	RGD:1349627	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1605806
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:5041	esophageal cancer		ISO	RGD:1349627	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1349627	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:630	genetic disease		ISO	RGD:1349627	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1349627	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:9000363	Hematuria		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroscopic hematuria	PMID:11798398|PMID:19691478|PMID:21557682|PMID:24418945|PMID:25728920|PMID:25741868|PMID:27607598|PMID:28492532|PMID:29675921|PMID:32237906
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1349627	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:9002319	Glanzmann Thrombasthenia 1		ISO	RGD:1349627	D	RGD:7240710	20220427	OMIM			
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:9002319	Glanzmann Thrombasthenia 1		ISO	RGD:1349627	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GLANZMANN THROMBASTHENIA 1 | ClinVar Annotator: match by term: Glanzmann thrombasthenia 1	PMID:11798398|PMID:12083483|PMID:12181054|PMID:12424194|PMID:1317725|PMID:15099289|PMID:16199547|PMID:16359514|PMID:17576681|PMID:18422845|PMID:19691478|PMID:20020534|PMID:21113249|PMID:21454453|PMID:21557682|PMID:21917754|PMID:22190468|PMID:22738334|PMID:24418945|PMID:24498605|PMID:25373348|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25827233|PMID:27607598|PMID:27696190|PMID:28232155|PMID:28492532|PMID:28748566|PMID:28983057|PMID:29675921|PMID:30138987|PMID:31064749|PMID:32237906|PMID:33496739|PMID:34355501|PMID:36519321|PMID:7508443|PMID:7706461|PMID:8282784|PMID:8704171|PMID:8883261|PMID:9215749|PMID:9473221|PMID:9536098|PMID:9722314|PMID:9763559|PMID:9920835
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1349627	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9445356
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:9003340	Neonatal Alloimmune Thrombocytopenia		ISO	RGD:1349627	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BAK PLATELET-SPECIFIC ANTIGEN	PMID:25741868|PMID:28492532
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:9003417	Menorrhagia		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Menorrhagia	PMID:11798398|PMID:19691478|PMID:21557682|PMID:24418945|PMID:25728920|PMID:25741868|PMID:27607598|PMID:28492532|PMID:29675921|PMID:32237906
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1596428	D	RGD:9068941	20200609	RGD			PMID:11705748|REF_RGD_ID:2316361
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:9005876	Thrombocytopenic Purpura		ISO	RGD:1557725	D	RGD:9068941	20200609	RGD			PMID:11493456|REF_RGD_ID:2316362
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:9005930	Endotoxemia		ISO	RGD:1596428	D	RGD:9068941	20200609	RGD			PMID:15280099|REF_RGD_ID:2316360
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:9008217	Hemorrhage		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bleeding | ClinVar Annotator: match by term: bleeding	PMID:10607701|PMID:12083483|PMID:25741868
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:9008421	Epistaxis		ISO	RGD:1349627	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:19691478|PMID:21113249|PMID:25741868|PMID:27607598|PMID:27696190|PMID:9473221
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastrointestinal hemorrhage	PMID:11798398|PMID:19691478|PMID:21557682|PMID:24418945|PMID:25728920|PMID:25741868|PMID:27607598|PMID:28492532|PMID:29675921|PMID:32237906
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:9009372	Fetomaternal alloimmune thrombocytopenia 2		ISO	RGD:1349627	D	RGD:7240710	20250820	OMIM			
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:9009372	Fetomaternal alloimmune thrombocytopenia 2		ISO	RGD:1349627	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Fetomaternal alloimmune thrombocytopenia 2	
8701593	Itga2b	integrin subunit alpha 2b	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8701629	Alg11	ALG11 alpha-1,2-mannosyltransferase	gene	DOID:0080567	congenital disorder of glycosylation Ip		ISO	RGD:1604899	D	RGD:7240710	20180130	OMIM			
8701629	Alg11	ALG11 alpha-1,2-mannosyltransferase	gene	DOID:0080567	congenital disorder of glycosylation Ip		ISO	RGD:1604899	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALG11-congenital disorder of glycosylation | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P	PMID:25741868|PMID:28492532|PMID:28649519|PMID:30676690|PMID:38733638
8701629	Alg11	ALG11 alpha-1,2-mannosyltransferase	gene	DOID:10316	pneumoconiosis		ISO	RGD:1604899	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506645
8701629	Alg11	ALG11 alpha-1,2-mannosyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1604899	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868
8701629	Alg11	ALG11 alpha-1,2-mannosyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8701629	Alg11	ALG11 alpha-1,2-mannosyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1604899	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8701629	Alg11	ALG11 alpha-1,2-mannosyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604899	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701629	Alg11	ALG11 alpha-1,2-mannosyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1604899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:28649519
8701629	Alg11	ALG11 alpha-1,2-mannosyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8701629	Alg11	ALG11 alpha-1,2-mannosyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604899	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8701648	Rfc3	replication factor C subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1315670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8701648	Rfc3	replication factor C subunit 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8701648	Rfc3	replication factor C subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1315670	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8701648	Rfc3	replication factor C subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701648	Rfc3	replication factor C subunit 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8701648	Rfc3	replication factor C subunit 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8701648	Rfc3	replication factor C subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:0050562	West syndrome		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypsarrhythmia | ClinVar Annotator: match by term: Infantile spasms	PMID:25741868|PMID:28492532|PMID:32196822
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:1344342	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27441201|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:0050835	generalized dystonia		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized dystonia	PMID:25741868|PMID:28492532|PMID:32160274|PMID:32196822|PMID:33057194|PMID:35982159
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	PMID:25741868|PMID:28492532|PMID:32196822
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:0070068	autosomal dominant intellectual developmental disorder 38		ISO	RGD:1344342	D	RGD:7240710	20180130	OMIM			
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:0070068	autosomal dominant intellectual developmental disorder 38		ISO	RGD:1344342	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38	PMID:18414213|PMID:25741868|PMID:26467025|PMID:27441201|PMID:28492532|PMID:32160274|PMID:33004838
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:0080463	developmental and epileptic encephalopathy 33		ISO	RGD:1344342	D	RGD:7240710	20180130	OMIM			
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:0080463	developmental and epileptic encephalopathy 33		ISO	RGD:1344342	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy | ClinVar Annotator: match by term: EEF1A2-related disorder | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33	PMID:16199547|PMID:17576681|PMID:18414213|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26740508|PMID:27441201|PMID:28135719|PMID:28492532|PMID:28911200|PMID:30109124|PMID:30377530|PMID:32160274|PMID:32196822|PMID:32725632|PMID:33004838|PMID:33307280|PMID:34489640|PMID:37593999|PMID:9536098
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:0080833	laryngomalacia		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868|PMID:28492532|PMID:32196822
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:1059	intellectual disability		ISO	RGD:1344342	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Profound intellectual disability	PMID:18414213|PMID:25741868|PMID:27441201|PMID:28492532|PMID:33004838
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1344342	D	RGD:9068941	20200609	RGD		protein:increased expression:CA1field of hippocampus:	PMID:8750861|REF_RGD_ID:10401216
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:10965	spastic diplegia		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:25741868
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:12849	autistic disorder		ISO	RGD:1344342	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:12859	choreatic disease		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1344342	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28492532|PMID:32196822
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:178	vascular disease		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vascular disorder	
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:1824	status epilepticus		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:25741868|PMID:28492532|PMID:32196822
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:1826	epilepsy		ISO	RGD:1344342	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:26467025|PMID:28492532
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:1826	epilepsy		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:26633542|PMID:27441201|PMID:28492532|PMID:28911200|PMID:30109124
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:1909	melanoma		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:1969	cerebral palsy		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Athetoid cerebral palsy	PMID:25741868
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:2234	focal epilepsy		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:28492532|PMID:32196822
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1344342	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1344342	D	RGD:9068941	20200609	RGD		DNA, mRNA:amplification, increased expression:ovary	PMID:12053177|REF_RGD_ID:2303420
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:480	movement disease		ISO	RGD:1344342	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Movement disorder	
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:543	dystonia		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:5723	optic atrophy		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:630	genetic disease		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:26633542|PMID:27441201|PMID:28492532|PMID:28911200|PMID:30109124|PMID:7491491|PMID:9253415
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:8927	learning disability		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1344342	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1344342	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:3781	D	RGD:9068941	20200609	RGD		protein:increased expression:CA1&CA3 fields of hippocampus:	PMID:8750861|REF_RGD_ID:10401216
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344342	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1344342	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868|PMID:27441201|PMID:28135719|PMID:28492532|PMID:31893083|PMID:32160274|PMID:32196822|PMID:33644862
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:24697219|PMID:25741868|PMID:28492532|PMID:32196822
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344342	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:32196822
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:9005721	Preeclamptic Toxemia		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Toxemia of pregnancy	PMID:28492532
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:9008582	Developmental Disease		ISO	RGD:1344342	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:936	brain disease		ISO	RGD:1344342	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
8701675	Eef1a2	eukaryotic translation elongation factor 1 alpha 2	gene	DOID:9834	hyperopia		ISO	RGD:1344342	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
8701687	Itfg1	integrin alpha FG-GAP repeat containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8701687	Itfg1	integrin alpha FG-GAP repeat containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:735534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8701687	Itfg1	integrin alpha FG-GAP repeat containing 1	gene	DOID:1324	lung cancer		ISO	RGD:735534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8701687	Itfg1	integrin alpha FG-GAP repeat containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8701687	Itfg1	integrin alpha FG-GAP repeat containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:735534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8701687	Itfg1	integrin alpha FG-GAP repeat containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8701687	Itfg1	integrin alpha FG-GAP repeat containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701687	Itfg1	integrin alpha FG-GAP repeat containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8701687	Itfg1	integrin alpha FG-GAP repeat containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8701687	Itfg1	integrin alpha FG-GAP repeat containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8701722	Chchd1	coiled-coil-helix-coiled-coil-helix domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8701722	Chchd1	coiled-coil-helix-coiled-coil-helix domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1316148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8701722	Chchd1	coiled-coil-helix-coiled-coil-helix domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8701722	Chchd1	coiled-coil-helix-coiled-coil-helix domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8701729	Cep19	centrosomal protein 19	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1602846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:29127258
8701729	Cep19	centrosomal protein 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8701729	Cep19	centrosomal protein 19	gene	DOID:5723	optic atrophy		ISO	RGD:1602846	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8701729	Cep19	centrosomal protein 19	gene	DOID:9004698	Morbid Obesity and Spermatogenic Failure		ISO	RGD:1602846	D	RGD:7240710	20180130	OMIM			
8701729	Cep19	centrosomal protein 19	gene	DOID:9004698	Morbid Obesity and Spermatogenic Failure		ISO	RGD:1602846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CEP19-related condition	PMID:28492532
8701729	Cep19	centrosomal protein 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8701808	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8701808	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:0060937	dystonia 30		ISO	RGD:1345721	D	RGD:7240710	20210505	OMIM			
8701808	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:0060937	dystonia 30		ISO	RGD:1345721	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSTONIA 30 | ClinVar Annotator: match by term: Dystonia 30 | ClinVar Annotator: match by term: VPS16-associated disorder | ClinVar Annotator: match by term: VPS16-related condition	PMID:16199547|PMID:25741868|PMID:28492532|PMID:32808683
8701808	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:10534	stomach cancer		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8701808	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8701808	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:1115	sarcoma		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8701808	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:1324	lung cancer		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8701808	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8701808	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:3070	high grade glioma		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8701808	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8701808	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:5041	esophageal cancer		ISO	RGD:1345721	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8701808	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701808	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8701808	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:630	genetic disease		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8701808	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:870	neuropathy		ISO	RGD:1345721	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	
8701808	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:9002720	Splenomegaly		ISO	RGD:1345721	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Splenomegaly	
8701808	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8701837	Cpn1	carboxypeptidase N subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8701837	Cpn1	carboxypeptidase N subunit 1	gene	DOID:0111583	carboxypeptidase N deficiency		ISO	RGD:734334	D	RGD:7240710	20180130	OMIM			
8701837	Cpn1	carboxypeptidase N subunit 1	gene	DOID:0111583	carboxypeptidase N deficiency		ISO	RGD:734334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARBOXYPEPTIDASE N DEFICIENCY	PMID:25741868
8701851	Osbpl3	oxysterol binding protein like 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8701851	Osbpl3	oxysterol binding protein like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8701851	Osbpl3	oxysterol binding protein like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8701851	Osbpl3	oxysterol binding protein like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8701851	Osbpl3	oxysterol binding protein like 3	gene	DOID:1115	sarcoma		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8701851	Osbpl3	oxysterol binding protein like 3	gene	DOID:1324	lung cancer		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8701851	Osbpl3	oxysterol binding protein like 3	gene	DOID:1909	melanoma		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8701851	Osbpl3	oxysterol binding protein like 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8701851	Osbpl3	oxysterol binding protein like 3	gene	DOID:4362	cervical cancer		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8701851	Osbpl3	oxysterol binding protein like 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8701851	Osbpl3	oxysterol binding protein like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701851	Osbpl3	oxysterol binding protein like 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8701851	Osbpl3	oxysterol binding protein like 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8701851	Osbpl3	oxysterol binding protein like 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8701851	Osbpl3	oxysterol binding protein like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8701851	Osbpl3	oxysterol binding protein like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8701851	Osbpl3	oxysterol binding protein like 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8701912	Il4i1	interleukin 4 induced 1	gene	DOID:0060058	lymphoma		ISO	RGD:1312498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8701912	Il4i1	interleukin 4 induced 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8701912	Il4i1	interleukin 4 induced 1	gene	DOID:1909	melanoma		ISO	RGD:1312498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8701912	Il4i1	interleukin 4 induced 1	gene	DOID:3275	thymoma		ISO	RGD:1312498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8701912	Il4i1	interleukin 4 induced 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8701912	Il4i1	interleukin 4 induced 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312498	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8701912	Il4i1	interleukin 4 induced 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8701912	Il4i1	interleukin 4 induced 1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1312498	D	RGD:9068941	20230608	CTD		CTD Direct Evidence: marker/mechanism	PMID:36537648
8701912	Il4i1	interleukin 4 induced 1	gene	DOID:9005372	Inflammation		ISO	RGD:1312498	D	RGD:9068941	20230608	CTD		CTD Direct Evidence: marker/mechanism	PMID:36537648
8701912	Il4i1	interleukin 4 induced 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:0051061	stroke		ISO	RGD:619942	D	RGD:9068941	20200609	RGD			PMID:21951366|REF_RGD_ID:5686849
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:1210	optic neuritis		ISO	RGD:730839	D	RGD:9068941	20200609	RGD		associated with Encephalomyelitis, Autoimmune, Experimental;protein:altered expression:optic II nerve	PMID:20151287|REF_RGD_ID:5686855
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:12849	autistic disorder		ISO	RGD:730839	D	RGD:9068941	20200609	RGD		protein:increased expression:cingulate cortex	PMID:21575186|REF_RGD_ID:5686862
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:1324	lung cancer		ISO	RGD:730838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:1909	melanoma		ISO	RGD:730838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:2316	brain ischemia		ISO	RGD:619942	D	RGD:9068941	20200609	RGD			PMID:21864831|REF_RGD_ID:5686850
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:2378	relapsing-remitting multiple sclerosis		ISO	RGD:730838	D	RGD:9068941	20200609	RGD			PMID:10976643|REF_RGD_ID:5686865
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:2513	basal cell carcinoma		ISO	RGD:730838	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:3213	demyelinating disease		ISO	RGD:730839	D	RGD:9068941	20200609	RGD			PMID:22078261|REF_RGD_ID:5686845
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:3275	thymoma		ISO	RGD:730838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:3613	Canavan disease		ISO	RGD:733059	D	RGD:9068941	20200609	RGD			PMID:19739253|REF_RGD_ID:5686858
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:5041	esophageal cancer		ISO	RGD:730838	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:619942	D	RGD:9068941	20200609	RGD			PMID:22042562|REF_RGD_ID:5686848
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:730838	D	RGD:9068941	20200609	RGD			PMID:19604403|REF_RGD_ID:5686859
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:730839	D	RGD:9068941	20200609	RGD			PMID:22243800|REF_RGD_ID:5686844
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:9000998	Brain Injuries		ISO	RGD:619942	D	RGD:9068941	20200609	RGD		protein:altered expression:cerebral cortex	PMID:19473238|REF_RGD_ID:5686860
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:619942	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:20162860|REF_RGD_ID:5686863
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:730839	D	RGD:9068941	20200609	RGD			PMID:21679768|REF_RGD_ID:5686852
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:619942	D	RGD:9068941	20200609	RGD			PMID:17565360|REF_RGD_ID:5686869
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8701935	Cspg4	chondroitin sulfate proteoglycan 4	gene	DOID:9952	acute lymphoblastic leukemia	severity	ISO	RGD:730838	D	RGD:9068941	20200609	RGD			PMID:8562939|REF_RGD_ID:734840
8701952	Klf12	KLF transcription factor 12	gene	DOID:10534	stomach cancer		ISO	RGD:1319416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8701952	Klf12	KLF transcription factor 12	gene	DOID:1909	melanoma		ISO	RGD:1319416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8701952	Klf12	KLF transcription factor 12	gene	DOID:303	substance-related disorder		ISO	RGD:1319416	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8701952	Klf12	KLF transcription factor 12	gene	DOID:4362	cervical cancer		ISO	RGD:1319416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8701952	Klf12	KLF transcription factor 12	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8701952	Klf12	KLF transcription factor 12	gene	DOID:5419	schizophrenia		ISO	RGD:1319416	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
8701952	Klf12	KLF transcription factor 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701952	Klf12	KLF transcription factor 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8701952	Klf12	KLF transcription factor 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8701964	Cimap2	ciliary microtubule associated protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1603553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8701964	Cimap2	ciliary microtubule associated protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8701964	Cimap2	ciliary microtubule associated protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:0050855	renal fibrosis		ISO	RGD:620293	D	RGD:9068941	20200609	RGD		associated with Ureteral obstruction;mRNA:increased expression:kidney	PMID:11078391|REF_RGD_ID:7244179
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:731823	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease	
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:10534	stomach cancer		ISO	RGD:731823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731823	D	RGD:9068941	20200609	RGD			PMID:15340356|REF_RGD_ID:1580902
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:10763	hypertension		ISO	RGD:620293	D	RGD:9068941	20200609	RGD			PMID:12193123|REF_RGD_ID:1580907
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:10763	hypertension		ISO	RGD:620293	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression,increased activity:kidney medulla	PMID:10894793|REF_RGD_ID:7244182
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:10763	hypertension		ISO	RGD:731823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12566389
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:10763	hypertension		ISO	RGD:731823	D	RGD:9068941	20200609	RGD			PMID:15126915|REF_RGD_ID:1580904
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:10825	essential hypertension		ISO	RGD:731823	D	RGD:7240710	20260729	OMIM			
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:10825	essential hypertension		ISO	RGD:731823	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Essential hypertension, genetic | ClinVar Annotator: match by term: HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO	PMID:25741868
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:1115	sarcoma		ISO	RGD:731823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:11465	autonomic nervous system disease		ISO	RGD:731823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9915973
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:1184	nephrotic syndrome		ISO	RGD:620293	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:kidney:	PMID:12972712|REF_RGD_ID:7244242
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731823	D	RGD:9068941	20200609	RGD			PMID:11145756|REF_RGD_ID:1580911
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:1324	lung cancer		ISO	RGD:731823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:1682	congenital heart disease		ISO	RGD:731823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9449665|PMID:9915973
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:1909	melanoma		ISO	RGD:731823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:3021	acute kidney failure		ISO	RGD:620293	D	RGD:9068941	20200609	RGD			PMID:10073607|PMID:11043448|REF_RGD_ID:7244180|REF_RGD_ID:7244185
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:3275	thymoma		ISO	RGD:731823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:3393	coronary artery disease		ISO	RGD:731823	D	RGD:9068941	20200609	RGD			PMID:10973835|REF_RGD_ID:1580909
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:3393	coronary artery disease		ISO	RGD:731823	D	RGD:9068941	20200609	RGD		protein:increased expression:smooth muscle cell,macrophage	PMID:8994440|REF_RGD_ID:7244168
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:3454	brain infarction		ISO	RGD:1552140	D	RGD:9068941	20200609	RGD			PMID:15485550|REF_RGD_ID:1580908
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:5041	esophageal cancer		ISO	RGD:731823	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:5844	myocardial infarction		ISO	RGD:731823	D	RGD:9068941	20200609	RGD			PMID:9607404|REF_RGD_ID:1580912
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:6000	congestive heart failure		ISO	RGD:620293	D	RGD:9068941	20200609	RGD		associated with myocardial ischemia	PMID:19596829|REF_RGD_ID:7243876
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:6000	congestive heart failure		ISO	RGD:620293	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:kidney:	PMID:9595392|REF_RGD_ID:7244244
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:6000	congestive heart failure		ISO	RGD:731823	D	RGD:9068941	20200609	RGD			PMID:11145756|REF_RGD_ID:1580911
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:6406	double outlet right ventricle		ISO	RGD:1552140	D	RGD:9068941	20220825	MouseDO		OMIM:217095	
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:620293	D	RGD:9068941	20200609	RGD		associated with Anoxia;	PMID:18767389|REF_RGD_ID:7243939
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:620293	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:16170464|REF_RGD_ID:7243952
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:9001782	Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction		ISO	RGD:731823	D	RGD:7240710	20260729	OMIM			
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:9001782	Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction		ISO	RGD:731823	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunction	PMID:25741868|PMID:34298581
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:9002514	Neointima		ISO	RGD:620293	D	RGD:9068941	20200609	RGD		mRNA:increased expression:carotid artery	PMID:8575076|REF_RGD_ID:7244170
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:9002682	Cardiovascular Abnormalities		ISO	RGD:1552140	D	RGD:9068941	20200609	RGD			PMID:9649553|REF_RGD_ID:734910
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:9004283	Transplant Rejection		ISO	RGD:620293	D	RGD:9068941	20200609	RGD			PMID:10401760|REF_RGD_ID:7244165
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:620293	D	RGD:9068941	20200609	RGD		associated with Hypertension, Renovascular and Diabetes Mellitus, Experimental;mRNA,protein:increased expression:heart left ventricle	PMID:14627492|REF_RGD_ID:7244172
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620293	D	RGD:9068941	20200609	RGD		mRNA:increased expression:thoracic aorta	PMID:23600389|REF_RGD_ID:7243858
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:9005666	Contrast-Induced Nephropathy		ISO	RGD:620293	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:kidney medulla	PMID:18385664|REF_RGD_ID:7243946
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:620293	D	RGD:9068941	20200609	RGD			PMID:12193087|PMID:18586023|REF_RGD_ID:4892580|REF_RGD_ID:7244160
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:731823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9449665
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731823	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:620293	D	RGD:9068941	20200609	RGD			PMID:19371338|REF_RGD_ID:4892572
8701990	Ece1	endothelin converting enzyme 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16387788
8702021	Ankrd2	ankyrin repeat domain 2	gene	DOID:3275	thymoma		ISO	RGD:1312939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8702021	Ankrd2	ankyrin repeat domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702021	Ankrd2	ankyrin repeat domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8702021	Ankrd2	ankyrin repeat domain 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8702063	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8702063	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8702063	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:10283	prostate cancer		ISO	RGD:1605423	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8702063	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:10283	prostate cancer		ISO	RGD:1605423	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8702063	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8702063	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8702063	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8702063	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:1909	melanoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8702063	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8702063	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8702063	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8702063	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605423	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8702063	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702063	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8702063	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8702063	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8702063	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8702063	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8702063	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1351399	D	RGD:8554872	20250812	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1	PMID:25741868|PMID:28492532
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:0080470	developmental and epileptic encephalopathy 36		ISO	RGD:1351399	D	RGD:7240710	20180130	OMIM			
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:0080470	developmental and epileptic encephalopathy 36		ISO	RGD:1351399	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALG13-related condition | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36	PMID:16199547|PMID:17576681|PMID:24476948|PMID:25640679|PMID:25732998|PMID:25741868|PMID:26467025|PMID:27781031|PMID:28397838|PMID:28492532|PMID:32631363|PMID:33057194|PMID:33734437|PMID:35240324|PMID:35899201|PMID:35982159|PMID:36368308|PMID:9536098
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:0081337	congenital myopathy		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1351399	D	RGD:8554872	20250812	ClinVar		ClinVar Annotator: match by term: developmental and epileptic encephalopathy	PMID:25741868|PMID:28492532
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1351399	D	RGD:8554872	20250812	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1351399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25533962|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28628100|PMID:28778787|PMID:28940310|PMID:31327507|PMID:32238909|PMID:32681751|PMID:33734437
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:10907	microcephaly		ISO	RGD:1351399	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:33734437
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:1115	sarcoma		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:1826	epilepsy		ISO	RGD:1351399	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:33734437
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:1827	generalized epilepsy		ISO	RGD:1351399	D	RGD:8554872	20250812	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:1909	melanoma		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:3275	thymoma		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1351399	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1351399	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: congenital disorders of glycosylation	PMID:25741868|PMID:33734437
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:630	genetic disease		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532|PMID:35240324
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9002079	Paresis		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiparesis	
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9003816	Macrocephaly		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1351399	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:29942082
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1351399	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1351399	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: poor muscle tone	PMID:33734437
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:1351399	D	RGD:8554872	20250812	ClinVar		ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME	PMID:25741868
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351399	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:33734437
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8702117	Alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8702169	Ltb4r	leukotriene B4 receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8702169	Ltb4r	leukotriene B4 receptor	gene	DOID:10754	otitis media		IEP		D	RGD:11553910|PMID:20433028	20161017	RGD			
8702169	Ltb4r	leukotriene B4 receptor	gene	DOID:11664	nephrosclerosis		ISO	RGD:1550123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30818366
8702169	Ltb4r	leukotriene B4 receptor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348020	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8702169	Ltb4r	leukotriene B4 receptor	gene	DOID:2349	arteriosclerosis		ISO	RGD:1550123	D	RGD:9068941	20200609	RGD			PMID:16043658|REF_RGD_ID:1581956
8702169	Ltb4r	leukotriene B4 receptor	gene	DOID:2841	asthma	no_association	ISO	RGD:1348020	D	RGD:9068941	20260226	RGD		DNA:SNPs: :multiple	PMID:23167751|REF_RGD_ID:632527164
8702169	Ltb4r	leukotriene B4 receptor	gene	DOID:3407	carotid artery disease		ISO	RGD:620410	D	RGD:9068941	20200609	RGD			PMID:16293697|REF_RGD_ID:1581954
8702169	Ltb4r	leukotriene B4 receptor	gene	DOID:409	liver disease		ISO	RGD:1348020	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
8702169	Ltb4r	leukotriene B4 receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702169	Ltb4r	leukotriene B4 receptor	gene	DOID:9005372	Inflammation		ISO	RGD:1348020	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10934231
8702169	Ltb4r	leukotriene B4 receptor	gene	DOID:9007278	Anaphylaxis		ISO	RGD:1348020	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10934231
8702169	Ltb4r	leukotriene B4 receptor	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1550123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28487374
8702169	Ltb4r	leukotriene B4 receptor	gene	DOID:9008114	Helicobacter Infections	treatment	ISO	RGD:1348020	D	RGD:9068941	20210108	RGD			PMID:18571838|REF_RGD_ID:40903061
8702184	Sftpc	surfactant protein C	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:736728	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form	PMID:14735158|PMID:15039969|PMID:15709974|PMID:18383112|PMID:19443464|PMID:19910179|PMID:22308375|PMID:23775869|PMID:24081995|PMID:24347114|PMID:25657025|PMID:25741868|PMID:28492532
8702184	Sftpc	surfactant protein C	gene	DOID:0050158	desquamative interstitial pneumonia		ISO	RGD:733829	D	RGD:9068941	20220825	MouseDO		OMIM:263000	
8702184	Sftpc	surfactant protein C	gene	DOID:0060971	interstitial lung disease 2		ISO	RGD:736728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Interstitial lung disease 2	PMID:15039969|PMID:18383112|PMID:22308375|PMID:23775869|PMID:24081995|PMID:25657025|PMID:25741868|PMID:28492532
8702184	Sftpc	surfactant protein C	gene	DOID:0080092	myofibrillar myopathy 1		ISO	RGD:736728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs	PMID:25741868
8702184	Sftpc	surfactant protein C	gene	DOID:11339	pneumocystosis		ISO	RGD:733829	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung	PMID:11385364|REF_RGD_ID:4143431
8702184	Sftpc	surfactant protein C	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:736728	D	RGD:9068941	20200609	RGD			PMID:9720777|REF_RGD_ID:4144159
8702184	Sftpc	surfactant protein C	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:736728	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung	PMID:17662121|REF_RGD_ID:4143379
8702184	Sftpc	surfactant protein C	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:736728	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8702184	Sftpc	surfactant protein C	gene	DOID:12053	cryptococcosis		ISO	RGD:733829	D	RGD:9068941	20200827	RGD		mRNA:increased expression:lung (mouse)	PMID:27596810|REF_RGD_ID:38549345
8702184	Sftpc	surfactant protein C	gene	DOID:12120	pulmonary alveolar proteinosis		ISO	RGD:736728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary alveolar proteinosis	PMID:25741868
8702184	Sftpc	surfactant protein C	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:11665276|RGD:11665301|RGD:11665565|RGD:11665669|RGD:11665904|RGD:11666038|RGD:11666211	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive	PMID:25741868
8702184	Sftpc	surfactant protein C	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:736728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
8702184	Sftpc	surfactant protein C	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:733829	D	RGD:9068941	20200609	RGD			PMID:19304906|REF_RGD_ID:4144065
8702184	Sftpc	surfactant protein C	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:736728	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :138A>C, 186A>G (human)	PMID:17121584|REF_RGD_ID:4144116
8702184	Sftpc	surfactant protein C	gene	DOID:1485	cystic fibrosis		ISO	RGD:736728	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:15271694|REF_RGD_ID:4143403
8702184	Sftpc	surfactant protein C	gene	DOID:2841	asthma		ISO	RGD:733829	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:lung	PMID:11472974|REF_RGD_ID:4143465
8702184	Sftpc	surfactant protein C	gene	DOID:2841	asthma		ISO	RGD:736728	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:16629790|REF_RGD_ID:4143462
8702184	Sftpc	surfactant protein C	gene	DOID:2841	asthma	susceptibility	ISO	RGD:736728	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.A53T (human)	PMID:19910179|REF_RGD_ID:4144063
8702184	Sftpc	surfactant protein C	gene	DOID:3082	interstitial lung disease		ISO	RGD:733829	D	RGD:9068941	20250515	RGD			PMID:12519727|REF_RGD_ID:4143413
8702184	Sftpc	surfactant protein C	gene	DOID:3082	interstitial lung disease		ISO	RGD:736728	D	RGD:9068941	20250515	RGD		DNA:missense mutation:exon:p.I73T (human)	PMID:15756222|REF_RGD_ID:4143400
8702184	Sftpc	surfactant protein C	gene	DOID:3082	interstitial lung disease		ISO	RGD:736728	D	RGD:9068941	20250515	RGD		DNA:mutations: :multiple (human)	PMID:19443464|REF_RGD_ID:4144064
8702184	Sftpc	surfactant protein C	gene	DOID:3082	interstitial lung disease		ISO	RGD:736728	D	RGD:9068941	20250515	RGD		protein:decreased expression:lung	PMID:11445799|REF_RGD_ID:4143430
8702184	Sftpc	surfactant protein C	gene	DOID:3082	interstitial lung disease	susceptibility	ISO	RGD:736728	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:p.N186S (human)	PMID:16423270|REF_RGD_ID:4144126
8702184	Sftpc	surfactant protein C	gene	DOID:3083	chronic obstructive pulmonary disease	disease_progression	ISO	RGD:736728	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :186A>G (human)	PMID:18038590|REF_RGD_ID:4144115
8702184	Sftpc	surfactant protein C	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:736728	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis	PMID:11893657|PMID:15293602|PMID:15572558|PMID:15756222|PMID:17597647|PMID:19443464|PMID:21092132|PMID:21707890|PMID:22308375|PMID:25657025|PMID:25741868|PMID:27362365|PMID:28492532|PMID:31081264|PMID:33526882
8702184	Sftpc	surfactant protein C	gene	DOID:3770	pulmonary fibrosis	susceptibility	ISO	RGD:736728	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :p.M71V, p.I73T (human)	PMID:20656946|REF_RGD_ID:4144060
8702184	Sftpc	surfactant protein C	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:736728	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25851810
8702184	Sftpc	surfactant protein C	gene	DOID:423	myopathy		ISO	RGD:736728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868
8702184	Sftpc	surfactant protein C	gene	DOID:552	pneumonia		ISO	RGD:733829	D	RGD:9068941	20200609	RGD			PMID:15967375|REF_RGD_ID:4143394
8702184	Sftpc	surfactant protein C	gene	DOID:630	genetic disease		ISO	RGD:736728	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22308375
8702184	Sftpc	surfactant protein C	gene	DOID:850	lung disease		ISO	RGD:736728	D	RGD:9068941	20200609	RGD		Acute Lung Injury;mRNA:increased expression:pneumocyte	PMID:8569184|REF_RGD_ID:4143451
8702184	Sftpc	surfactant protein C	gene	DOID:850	lung disease		ISO	RGD:736728	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.I73T (human)	PMID:16910460|REF_RGD_ID:4144117
8702184	Sftpc	surfactant protein C	gene	DOID:850	lung disease		ISO	RGD:736728	D	RGD:9068941	20200609	RGD		surfactant metabolism dysfunction SMDP2,OMIM:610913;DNA:point mutation:intron:460+1G>A (human)	PMID:11207353|REF_RGD_ID:1624153
8702184	Sftpc	surfactant protein C	gene	DOID:850	lung disease		ISO	RGD:737198	D	RGD:9068941	20200609	RGD		Lung Injury	PMID:11796659|REF_RGD_ID:4143420
8702184	Sftpc	surfactant protein C	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:736728	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:11893657|PMID:15293602|PMID:15572558|PMID:15756222|PMID:17597647|PMID:19443464|PMID:21092132|PMID:21707890|PMID:25741868|PMID:28492532|PMID:31081264
8702184	Sftpc	surfactant protein C	gene	DOID:874	bacterial pneumonia		ISO	RGD:3666	D	RGD:9068941	20200609	RGD			PMID:12169586|REF_RGD_ID:4143464
8702184	Sftpc	surfactant protein C	gene	DOID:874	bacterial pneumonia		ISO	RGD:733829	D	RGD:9068941	20200609	RGD			PMID:18566429|REF_RGD_ID:4144114
8702184	Sftpc	surfactant protein C	gene	DOID:9000613	Hyaline Membrane Disease		ISO	RGD:736728	D	RGD:9068941	20200609	RGD			PMID:9655740|REF_RGD_ID:4143444
8702184	Sftpc	surfactant protein C	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:733829	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung	PMID:14748931|REF_RGD_ID:4143407
8702184	Sftpc	surfactant protein C	gene	DOID:9001026	Pulmonary Surfactant Metabolism Dysfunction 1		ISO	RGD:736728	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1	PMID:25741868|PMID:28492532
8702184	Sftpc	surfactant protein C	gene	DOID:9003953	Surfactant Dysfunction		ISO	RGD:736728	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction	PMID:11893657|PMID:14735158|PMID:15039969|PMID:15293602|PMID:15572558|PMID:15756222|PMID:17576681|PMID:17597647|PMID:18383112|PMID:19443464|PMID:20403820|PMID:20658481|PMID:21092132|PMID:21707890|PMID:22308375|PMID:23775869|PMID:24033266|PMID:24081995|PMID:25657025|PMID:25741868|PMID:28492532|PMID:31081264|PMID:9536098
8702184	Sftpc	surfactant protein C	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3666	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung	PMID:20560845|REF_RGD_ID:4144062
8702184	Sftpc	surfactant protein C	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
8702184	Sftpc	surfactant protein C	gene	DOID:9005976	Pulmonary Surfactant Metabolism Dysfunction 2		ISO	RGD:736728	D	RGD:7240710	20180130	OMIM			
8702184	Sftpc	surfactant protein C	gene	DOID:9005976	Pulmonary Surfactant Metabolism Dysfunction 2		ISO	RGD:736728	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 2 | ClinVar Annotator: match by term: SFTPC-related disorder | ClinVar Annotator: match by term: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2	PMID:11207353|PMID:11893657|PMID:11991887|PMID:12538769|PMID:14525980|PMID:14735158|PMID:15039969|PMID:15293602|PMID:15572558|PMID:15756222|PMID:17005585|PMID:17576681|PMID:17597647|PMID:18383112|PMID:19443464|PMID:19910179|PMID:20118944|PMID:20403820|PMID:20658481|PMID:21092132|PMID:21707890|PMID:21828032|PMID:22308375|PMID:23166334|PMID:23625987|PMID:23775869|PMID:24033266|PMID:24081995|PMID:25105258|PMID:25657025|PMID:25741868|PMID:28157837|PMID:28492532|PMID:29554876|PMID:29569581|PMID:31081264|PMID:9536098
8702184	Sftpc	surfactant protein C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8702184	Sftpc	surfactant protein C	gene	DOID:9007480	Hyperoxia		ISO	RGD:3666	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:11472975|REF_RGD_ID:4143429
8702184	Sftpc	surfactant protein C	gene	DOID:9008811	Tachypnea		ISO	RGD:736728	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:11893657|PMID:15293602|PMID:15572558|PMID:15756222|PMID:17597647|PMID:19443464|PMID:21092132|PMID:21707890|PMID:25741868|PMID:28492532|PMID:31081264
8702184	Sftpc	surfactant protein C	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:736728	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10751355
8702184	Sftpc	surfactant protein C	gene	DOID:9675	pulmonary emphysema	susceptibility	ISO	RGD:736728	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :138A>C, 186A>G (human)	PMID:18038590|REF_RGD_ID:4144115
8702202	Cep112	centrosomal protein 112	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8702202	Cep112	centrosomal protein 112	gene	DOID:0112109	spermatogenic failure 44		ISO	RGD:1604510	D	RGD:7240710	20201021	OMIM			
8702202	Cep112	centrosomal protein 112	gene	DOID:0112109	spermatogenic failure 44		ISO	RGD:1604510	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 44 | ClinVar Annotator: match by term: Spermatogenic failure 44 | ClinVar Annotator: match by term: spermatogenic failure 44	PMID:25741868
8702202	Cep112	centrosomal protein 112	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8702202	Cep112	centrosomal protein 112	gene	DOID:1115	sarcoma		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8702202	Cep112	centrosomal protein 112	gene	DOID:1909	melanoma		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8702202	Cep112	centrosomal protein 112	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8702202	Cep112	centrosomal protein 112	gene	DOID:3275	thymoma		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8702202	Cep112	centrosomal protein 112	gene	DOID:4362	cervical cancer		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8702202	Cep112	centrosomal protein 112	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8702202	Cep112	centrosomal protein 112	gene	DOID:5041	esophageal cancer		ISO	RGD:1604510	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8702202	Cep112	centrosomal protein 112	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702202	Cep112	centrosomal protein 112	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8702202	Cep112	centrosomal protein 112	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8702202	Cep112	centrosomal protein 112	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8702202	Cep112	centrosomal protein 112	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8702257	Dda1	DET1 and DDB1 associated 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601973	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8702257	Dda1	DET1 and DDB1 associated 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8702277	Krt84	keratin 84	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8702277	Krt84	keratin 84	gene	DOID:1324	lung cancer		ISO	RGD:1343377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
8702289	Elk3	ETS transcription factor ELK3	gene	DOID:0060646	congenital chylothorax		ISO	RGD:1317144	D	RGD:9068941	20220825	MouseDO		OMIM:603523	
8702289	Elk3	ETS transcription factor ELK3	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1317143	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8702289	Elk3	ETS transcription factor ELK3	gene	DOID:3275	thymoma		ISO	RGD:1317143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8702289	Elk3	ETS transcription factor ELK3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8702289	Elk3	ETS transcription factor ELK3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702289	Elk3	ETS transcription factor ELK3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1317143	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16583263
8702289	Elk3	ETS transcription factor ELK3	gene	DOID:9775	diastolic heart failure		ISO	RGD:1317143	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
8702310	Tex28	testis expressed 28	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1342529	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia	PMID:28492532
8702316	Habp4	hyaluronan binding protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1315131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8702316	Habp4	hyaluronan binding protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1315131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8702316	Habp4	hyaluronan binding protein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8702316	Habp4	hyaluronan binding protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1315131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8702316	Habp4	hyaluronan binding protein 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8702316	Habp4	hyaluronan binding protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8702316	Habp4	hyaluronan binding protein 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1315131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8702337	Pgp	phosphoglycolate phosphatase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8702344	Rps23	ribosomal protein S23	gene	DOID:0070415	brachycephaly, trichomegaly, and developmental delay		ISO	RGD:1343302	D	RGD:7240710	20190315	OMIM			
8702344	Rps23	ribosomal protein S23	gene	DOID:0070415	brachycephaly, trichomegaly, and developmental delay		ISO	RGD:1343302	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay	PMID:25741868
8702344	Rps23	ribosomal protein S23	gene	DOID:11830	myopia		ISO	RGD:1343302	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia	
8702344	Rps23	ribosomal protein S23	gene	DOID:12849	autistic disorder		ISO	RGD:1343302	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism	
8702344	Rps23	ribosomal protein S23	gene	DOID:1324	lung cancer		ISO	RGD:1343302	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8702344	Rps23	ribosomal protein S23	gene	DOID:2394	ovarian cancer		ISO	RGD:1343302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8702344	Rps23	ribosomal protein S23	gene	DOID:4362	cervical cancer		ISO	RGD:1343302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8702344	Rps23	ribosomal protein S23	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1343302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8702344	Rps23	ribosomal protein S23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702344	Rps23	ribosomal protein S23	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8702344	Rps23	ribosomal protein S23	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1343302	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8702344	Rps23	ribosomal protein S23	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1343302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8702344	Rps23	ribosomal protein S23	gene	DOID:9005077	Joint Instability		ISO	RGD:1343302	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8702344	Rps23	ribosomal protein S23	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343302	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
8702344	Rps23	ribosomal protein S23	gene	DOID:9007661	Dwarfism		ISO	RGD:1343302	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	
8702359	Eml6	EMAP like 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8702359	Eml6	EMAP like 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8702359	Eml6	EMAP like 6	gene	DOID:0060058	lymphoma		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8702359	Eml6	EMAP like 6	gene	DOID:10126	keratoconus		ISO	RGD:2302327	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Keratoconus	
8702359	Eml6	EMAP like 6	gene	DOID:1115	sarcoma		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8702359	Eml6	EMAP like 6	gene	DOID:3275	thymoma		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8702359	Eml6	EMAP like 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8702359	Eml6	EMAP like 6	gene	DOID:5041	esophageal cancer		ISO	RGD:2302327	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8702359	Eml6	EMAP like 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702359	Eml6	EMAP like 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8702359	Eml6	EMAP like 6	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8702359	Eml6	EMAP like 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8702359	Eml6	EMAP like 6	gene	DOID:9002189	High Myopia		ISO	RGD:2302327	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:33729517|PMID:35081682|PMID:36543923
8702359	Eml6	EMAP like 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8702359	Eml6	EMAP like 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8702408	Amer3	APC membrane recruitment protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8702408	Amer3	APC membrane recruitment protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1601927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8702408	Amer3	APC membrane recruitment protein 3	gene	DOID:9008189	Pyelectasis		ISO	RGD:1601927	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: pyelectasis	PMID:32641753
8702432	Ncam2	neural cell adhesion molecule 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8702432	Ncam2	neural cell adhesion molecule 2	gene	DOID:10534	stomach cancer		ISO	RGD:1342930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8702432	Ncam2	neural cell adhesion molecule 2	gene	DOID:1115	sarcoma		ISO	RGD:1342930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8702432	Ncam2	neural cell adhesion molecule 2	gene	DOID:12849	autistic disorder		ISO	RGD:1342930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8702432	Ncam2	neural cell adhesion molecule 2	gene	DOID:13938	amenorrhea		ISO	RGD:1342930	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
8702432	Ncam2	neural cell adhesion molecule 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8702432	Ncam2	neural cell adhesion molecule 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8702432	Ncam2	neural cell adhesion molecule 2	gene	DOID:4362	cervical cancer		ISO	RGD:1342930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8702432	Ncam2	neural cell adhesion molecule 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702432	Ncam2	neural cell adhesion molecule 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8702432	Ncam2	neural cell adhesion molecule 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1342930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8702432	Ncam2	neural cell adhesion molecule 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8702457	Sparcl1	SPARC like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8702457	Sparcl1	SPARC like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8702457	Sparcl1	SPARC like 1	gene	DOID:10534	stomach cancer		ISO	RGD:736595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8702457	Sparcl1	SPARC like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8702457	Sparcl1	SPARC like 1	gene	DOID:1826	epilepsy		ISO	RGD:736595	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18488994
8702457	Sparcl1	SPARC like 1	gene	DOID:1909	melanoma		ISO	RGD:736595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8702457	Sparcl1	SPARC like 1	gene	DOID:2566	corneal dystrophy		ISO	RGD:736595	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Stromal corneal dystrophy	
8702457	Sparcl1	SPARC like 1	gene	DOID:289	endometriosis		ISO	RGD:736595	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
8702457	Sparcl1	SPARC like 1	gene	DOID:3275	thymoma		ISO	RGD:736595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8702457	Sparcl1	SPARC like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8702457	Sparcl1	SPARC like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702457	Sparcl1	SPARC like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8702457	Sparcl1	SPARC like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736447	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:736447	D	RGD:9068941	20200609	RGD		protein:increased expression	PMID:21864296|REF_RGD_ID:5685671
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:0050967	spinocerebellar ataxia 17		ISO	RGD:736447	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413982
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:0060478	Zika fever		ISO	RGD:10742	D	RGD:9068941	20200702	RGD		mRNA,protein:increased expression:brain	PMID:30241539|REF_RGD_ID:32733625
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:0060496	respiratory allergy		ISO	RGD:736447	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24211530
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:10742	D	RGD:9068941	20200609	RGD			PMID:21937694|REF_RGD_ID:11354915
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	disease_progression	ISO	RGD:2843	D	RGD:9068941	20240727	RGD		mRNA,protein:increased expression:liver (rat)	PMID:28951310|REF_RGD_ID:407420265
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:0081088	chronic myelogenous leukemia, BCR-ABL1 positive		ISO	RGD:736447	D	RGD:9068941	20260409	CTD		CTD Direct Evidence: marker/mechanism	PMID:23777986
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:0090145	dopamine beta-hydroxylase deficiency		ISO	RGD:736447	D	RGD:9068941	20200609	RGD			PMID:21209083|REF_RGD_ID:5685690
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:10320	asbestosis		ISO	RGD:736447	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25324550
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:10534	stomach cancer		ISO	RGD:736447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:1324	lung cancer		ISO	RGD:736447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:10742	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:21094208|REF_RGD_ID:5686293
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:2055	post-traumatic stress disorder		ISO	RGD:2843	D	RGD:9068941	20200609	RGD			PMID:25331812|REF_RGD_ID:13782181
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:2843	D	RGD:9068941	20200609	RGD			PMID:25632565|REF_RGD_ID:11354959
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:3070	high grade glioma		ISO	RGD:736447	D	RGD:9068941	20200609	RGD		protein:increased expression	PMID:21112319|REF_RGD_ID:5685704
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:736447	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:10742	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:lungs	PMID:22227563|REF_RGD_ID:5685632
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:5199	ureteral obstruction	treatment	ISO	RGD:2843	D	RGD:9068941	20200609	RGD			PMID:25707520|REF_RGD_ID:13782175
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:5844	myocardial infarction		ISO	RGD:736447	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25450231
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736447	D	RGD:9068941	20200609	RGD		protein:increased expression:synovial joint	PMID:11315915|REF_RGD_ID:5685639
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:10742	D	RGD:9068941	20200609	RGD		mRNA: increased expression	PMID:21933012|REF_RGD_ID:5685666
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9000288	Chronic Intermittent Hypoxia		ISO	RGD:2843	D	RGD:9068941	20230817	RGD		mRNA:increased expression:kidney cortex, kidney medulla, liver (rat)	PMID:32416216|REF_RGD_ID:401793731
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:2843	D	RGD:9068941	20200609	RGD		mRNA:increased expression	PMID:21940431|REF_RGD_ID:5685664
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9002138	Spinal Cord Reperfusion Injury	treatment	ISO	RGD:2843	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord:	PMID:24463125|REF_RGD_ID:11354961
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2843	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney	PMID:19301230|REF_RGD_ID:2311449
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9002311	Experimental Autoimmune Myocarditis	treatment	ISO	RGD:2843	D	RGD:9068941	20200609	RGD			PMID:21927577|REF_RGD_ID:5685668
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:2843	D	RGD:9068941	20200609	RGD		protein:decreased expression:spinal cord	PMID:21436843|REF_RGD_ID:5685686
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2843	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, experimental (D003921): protein:increased expression:brain	PMID:22075494|REF_RGD_ID:5685650
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:2843	D	RGD:9068941	20200709	RGD		associated with  Crush Injuries	PMID:30465396|REF_RGD_ID:34901874
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9005666	Contrast-Induced Nephropathy	treatment	ISO	RGD:2843	D	RGD:9068941	20200609	RGD			PMID:27781957|REF_RGD_ID:13782262
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9006532	Hematologic Neoplasms		ISO	RGD:736447	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23777986
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9006945	Diabetic Cardiomyopathies	ameliorates	ISO	RGD:10742	D	RGD:9068941	20230302	RGD			PMID:36044268|REF_RGD_ID:156430337
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9007090	Experimental Seizures		ISO	RGD:2843	D	RGD:9068941	20241214	RGD		protein:increased expression:hippocampus:	PMID:25219120|REF_RGD_ID:11354919
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736447	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9007456	Female Infertility		ISO	RGD:736447	D	RGD:9068941	20200609	RGD			PMID:22143970|REF_RGD_ID:5685640
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9007558	Acute Experimental Pancreatitis		ISO	RGD:2843	D	RGD:9068941	20200609	RGD		protein:increased expression:neutrophil:	PMID:26464680|REF_RGD_ID:11354914
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:2843	D	RGD:9068941	20200609	RGD			PMID:24129401|PMID:25547710|REF_RGD_ID:11354962|REF_RGD_ID:13782178
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9008022	Temporomandibular Joint Osteoarthritis		ISO	RGD:2843	D	RGD:9068941	20200709	RGD		mRNA,protein:increased expression:chondrocyte	PMID:31007149|REF_RGD_ID:34888237
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:10742	D	RGD:9068941	20200609	RGD		protein:increased expression	PMID:20957756|REF_RGD_ID:5686342
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9452	steatotic liver disease		ISO	RGD:2843	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA:increased expression:liver:	PMID:23647685|REF_RGD_ID:11354957
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:10742	D	RGD:9068941	20231019	RGD			PMID:27813192|REF_RGD_ID:401842386
8702485	Hspa5	heat shock protein family A (Hsp70) member 5	gene	DOID:9970	obesity		ISO	RGD:736447	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26655953
8702509	Rigi	RNA sensor RIG-I	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8702509	Rigi	RNA sensor RIG-I	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8702509	Rigi	RNA sensor RIG-I	gene	DOID:10534	stomach cancer		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8702509	Rigi	RNA sensor RIG-I	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8702509	Rigi	RNA sensor RIG-I	gene	DOID:1115	sarcoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8702509	Rigi	RNA sensor RIG-I	gene	DOID:1324	lung cancer		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8702509	Rigi	RNA sensor RIG-I	gene	DOID:1883	hepatitis C		ISO	RGD:1319812	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20170495
8702509	Rigi	RNA sensor RIG-I	gene	DOID:1909	melanoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8702509	Rigi	RNA sensor RIG-I	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8702509	Rigi	RNA sensor RIG-I	gene	DOID:2365	West Nile encephalitis		ISO	RGD:1319813	D	RGD:9068941	20210423	RGD		mRNA:increased expression:brain	PMID:24173226|REF_RGD_ID:126781836
8702509	Rigi	RNA sensor RIG-I	gene	DOID:3070	high grade glioma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8702509	Rigi	RNA sensor RIG-I	gene	DOID:3275	thymoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8702509	Rigi	RNA sensor RIG-I	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8702509	Rigi	RNA sensor RIG-I	gene	DOID:4362	cervical cancer		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8702509	Rigi	RNA sensor RIG-I	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8702509	Rigi	RNA sensor RIG-I	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8702509	Rigi	RNA sensor RIG-I	gene	DOID:5041	esophageal cancer		ISO	RGD:1319812	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8702509	Rigi	RNA sensor RIG-I	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702509	Rigi	RNA sensor RIG-I	gene	DOID:630	genetic disease		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8702509	Rigi	RNA sensor RIG-I	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8702509	Rigi	RNA sensor RIG-I	gene	DOID:8893	psoriasis		ISO	RGD:1319812	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143594
8702509	Rigi	RNA sensor RIG-I	gene	DOID:9000371	influenza A		ISO	RGD:1319813	D	RGD:9068941	20210122	RGD		mRNA:increased expression:nasal cavity mucosa (mouse)	PMID:25751630|REF_RGD_ID:40925925
8702509	Rigi	RNA sensor RIG-I	gene	DOID:9000918	Disease Progression		ISO	RGD:1319812	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20170495
8702509	Rigi	RNA sensor RIG-I	gene	DOID:9001488	Human Influenza		ISO	RGD:1319812	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
8702509	Rigi	RNA sensor RIG-I	gene	DOID:9001499	Orthomyxoviridae Infections		ISO	RGD:1319812	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:25780039
8702509	Rigi	RNA sensor RIG-I	gene	DOID:9002133	Singleton-Merten Syndrome 2		ISO	RGD:1319812	D	RGD:7240710	20180130	OMIM			
8702509	Rigi	RNA sensor RIG-I	gene	DOID:9002133	Singleton-Merten Syndrome 2		ISO	RGD:1319812	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RIGI-related condition | ClinVar Annotator: match by term: SINGLETON-MERTEN SYNDROME 2 | ClinVar Annotator: match by term: Singleton-Merten syndrome 2	PMID:19859543|PMID:25741868|PMID:28180316|PMID:28492532|PMID:36228008
8702509	Rigi	RNA sensor RIG-I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8702509	Rigi	RNA sensor RIG-I	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8702509	Rigi	RNA sensor RIG-I	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8702530	Exosc5	exosome component 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8702530	Exosc5	exosome component 5	gene	DOID:1324	lung cancer		ISO	RGD:1317301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8702530	Exosc5	exosome component 5	gene	DOID:4362	cervical cancer		ISO	RGD:1317301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8702530	Exosc5	exosome component 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8702530	Exosc5	exosome component 5	gene	DOID:630	genetic disease		ISO	RGD:1317301	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8702530	Exosc5	exosome component 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8702530	Exosc5	exosome component 5	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1317301	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8702530	Exosc5	exosome component 5	gene	DOID:9000918	Disease Progression		ISO	RGD:1317301	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8702530	Exosc5	exosome component 5	gene	DOID:9003258	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS		ISO	RGD:1317301	D	RGD:7240710	20211208	OMIM			
8702530	Exosc5	exosome component 5	gene	DOID:9003258	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS		ISO	RGD:1317301	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS | ClinVar Annotator: match by term: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	PMID:25741868|PMID:29302074|PMID:30950035|PMID:32504085|PMID:34089229
8702530	Exosc5	exosome component 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8702530	Exosc5	exosome component 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317301	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8702540	Il22ra2	interleukin 22 receptor subunit alpha 2	gene	DOID:0080711	multisystem inflammatory syndrome in children		ISO	RGD:1322028	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children	
8702540	Il22ra2	interleukin 22 receptor subunit alpha 2	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	severity	ISO	RGD:1322028	D	RGD:9068941	20200626	RGD			PMID:28302172|REF_RGD_ID:32716376
8702540	Il22ra2	interleukin 22 receptor subunit alpha 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:730888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:730888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21037199
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:0051061	stroke		ISO	RGD:730888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20847317
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:0051064	left ventricular failure		ISO	RGD:730888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29753072
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:10603	glucose intolerance		ISO	RGD:730888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19934007
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:10603	glucose intolerance		ISO	RGD:730889	D	RGD:9068941	20200609	RGD			PMID:12511592|REF_RGD_ID:1302556
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:10779	septic myocarditis	treatment	ISO	RGD:730889	D	RGD:9068941	20201008	RGD			PMID:27621180|REF_RGD_ID:39456138
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:14069	cerebral malaria		ISO	RGD:730889	D	RGD:9068941	20201008	RGD		mRNA:decreased expression:brain (mouse)	PMID:29107705|REF_RGD_ID:39456137
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9002189	High Myopia		ISO	RGD:730888	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:620893	D	RGD:9068941	20230713	RGD		protein:decreased expression:serum, heart (rat)	PMID:30644033|REF_RGD_ID:329955369
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:730888	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: therapeutic	PMID:40010574
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:620893	D	RGD:9068941	20230713	RGD		protein:decreased expression:serum, heart (rat)	PMID:30644033|REF_RGD_ID:329955369
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:730888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18812163
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:620893	D	RGD:9068941	20231026	RGD			PMID:32535406|REF_RGD_ID:401850547
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:730889	D	RGD:9068941	20231026	RGD			PMID:31353547|REF_RGD_ID:401850595
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:730888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19934007
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9007692	Insulin Resistance	susceptibility	ISO	RGD:730888	D	RGD:9068941	20200609	RGD		DNA:SNPs	PMID:16567511|REF_RGD_ID:1625266
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:620893	D	RGD:9068941	20231221	RGD			PMID:20501665|REF_RGD_ID:10003160
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:730888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8702555	Prkaa2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:730888	D	RGD:9068941	20200609	RGD		DNA:SNPs	PMID:16567511|REF_RGD_ID:1625266
8702598	Srek1ip1	SREK1 interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8702598	Srek1ip1	SREK1 interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8702598	Srek1ip1	SREK1 interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8702598	Srek1ip1	SREK1 interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1604479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8702598	Srek1ip1	SREK1 interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702615	Galnt14	polypeptide N-acetylgalactosaminyltransferase 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8702615	Galnt14	polypeptide N-acetylgalactosaminyltransferase 14	gene	DOID:1115	sarcoma		ISO	RGD:1320757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8702615	Galnt14	polypeptide N-acetylgalactosaminyltransferase 14	gene	DOID:4362	cervical cancer		ISO	RGD:1320757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8702615	Galnt14	polypeptide N-acetylgalactosaminyltransferase 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8702615	Galnt14	polypeptide N-acetylgalactosaminyltransferase 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1320757	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8702615	Galnt14	polypeptide N-acetylgalactosaminyltransferase 14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8702615	Galnt14	polypeptide N-acetylgalactosaminyltransferase 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8702615	Galnt14	polypeptide N-acetylgalactosaminyltransferase 14	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1320757	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Non-Immune hydrops fetalis	PMID:25741868|PMID:26036949
8702615	Galnt14	polypeptide N-acetylgalactosaminyltransferase 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8702615	Galnt14	polypeptide N-acetylgalactosaminyltransferase 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8702642	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8702642	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:0060612	abdominal obesity-metabolic syndrome 3		ISO	RGD:1316288	D	RGD:7240710	20180130	OMIM			
8702642	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:0060612	abdominal obesity-metabolic syndrome 3		ISO	RGD:1316288	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: ABDOMINAL OBESITY-METABOLIC SYNDROME 3 | ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 | ClinVar Annotator: match by term: DYRK1B-related condition | ClinVar Annotator: match by term: abdominal obesity-metabolic syndrome 3	PMID:17576681|PMID:24827035|PMID:25741868|PMID:28492532|PMID:32041611|PMID:9536098
8702642	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8702642	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:1316288	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:28492532
8702642	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:2661	myoepithelioma		ISO	RGD:1316288	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8702642	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:3275	thymoma		ISO	RGD:1316288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8702642	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1316288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8702642	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1316288	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8702642	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702642	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:630	genetic disease		ISO	RGD:1316288	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8702642	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1316288	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20857490
8702642	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8702642	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8702681	Atf7	activating transcription factor 7	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1312669	D	RGD:9068941	20200609	RGD			PMID:26148593|REF_RGD_ID:11055686
8702700	Coq4	coenzyme Q4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8702700	Coq4	coenzyme Q4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8702700	Coq4	coenzyme Q4	gene	DOID:0070244	primary coenzyme Q10 deficiency 7		ISO	RGD:1312192	D	RGD:7240710	20180130	OMIM			
8702700	Coq4	coenzyme Q4	gene	DOID:0070244	primary coenzyme Q10 deficiency 7		ISO	RGD:1312192	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COENZYME Q10 DEFICIENCY, PRIMARY, 7 | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 | ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	PMID:16199547|PMID:17576681|PMID:23533218|PMID:23774949|PMID:25658047|PMID:25741868|PMID:26185144|PMID:27374853|PMID:28465093|PMID:28472853|PMID:28492532|PMID:28540186|PMID:29980630|PMID:31325447|PMID:31396399|PMID:31440721|PMID:32718099|PMID:32860008|PMID:33215859|PMID:33704555|PMID:34299348|PMID:34638552|PMID:34656997|PMID:34992632|PMID:35154243|PMID:35598585|PMID:36047608|PMID:39759098|PMID:9536098
8702700	Coq4	coenzyme Q4	gene	DOID:10534	stomach cancer		ISO	RGD:1312192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8702700	Coq4	coenzyme Q4	gene	DOID:1324	lung cancer		ISO	RGD:1312192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8702700	Coq4	coenzyme Q4	gene	DOID:4362	cervical cancer		ISO	RGD:1312192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8702700	Coq4	coenzyme Q4	gene	DOID:5041	esophageal cancer		ISO	RGD:1312192	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8702700	Coq4	coenzyme Q4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702700	Coq4	coenzyme Q4	gene	DOID:630	genetic disease		ISO	RGD:1312192	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532
8702700	Coq4	coenzyme Q4	gene	DOID:9006071	Spastic Ataxia 10, Autosomal Recessive		ISO	RGD:1312192	D	RGD:7240710	20240124	OMIM			
8702700	Coq4	coenzyme Q4	gene	DOID:9006071	Spastic Ataxia 10, Autosomal Recessive		ISO	RGD:1312192	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive	PMID:16199547|PMID:25658047|PMID:25741868|PMID:28492532|PMID:28540186|PMID:30659264|PMID:30847826|PMID:31325447|PMID:31396399|PMID:34656997|PMID:34992632|PMID:35598585|PMID:38013626|PMID:39759098
8702700	Coq4	coenzyme Q4	gene	DOID:9008582	Developmental Disease		ISO	RGD:1312192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8702712	Per2	period circadian regulator 2	gene	DOID:0050628	advanced sleep phase syndrome		ISO	RGD:737181	D	RGD:9068941	20200609	RGD		familial advanced sleep-phase syndrome, OMIM:604348, DNA:point mutation:exon:S662G	PMID:11232563|REF_RGD_ID:1600411
8702712	Per2	period circadian regulator 2	gene	DOID:0050696	fetal alcohol spectrum disorder	treatment	ISO	RGD:737181	D	RGD:9068941	20240718	RGD			PMID:31329297|REF_RGD_ID:405878078
8702712	Per2	period circadian regulator 2	gene	DOID:0050741	alcohol dependence		ISO	RGD:737181	D	RGD:9068941	20240711	RGD		DNA, mRNA:hypermethylation, decreased expression:blood	PMID:30597578|REF_RGD_ID:405878075
8702712	Per2	period circadian regulator 2	gene	DOID:0050741	alcohol dependence		ISO	RGD:737181	D	RGD:9068941	20240718	RGD		DNA:hypermethylation:blood, promoter	PMID:31329297|REF_RGD_ID:405878078
8702712	Per2	period circadian regulator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8702712	Per2	period circadian regulator 2	gene	DOID:0060001	withdrawal disorder		ISO	RGD:737181	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20434889|PMID:20738730
8702712	Per2	period circadian regulator 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:737181	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8702712	Per2	period circadian regulator 2	gene	DOID:0081088	chronic myelogenous leukemia, BCR-ABL1 positive		ISO	RGD:737181	D	RGD:9068941	20260409	CTD		CTD Direct Evidence: marker/mechanism	PMID:16999817
8702712	Per2	period circadian regulator 2	gene	DOID:0110011	advanced sleep phase syndrome 1		ISO	RGD:737181	D	RGD:7240710	20180130	OMIM			
8702712	Per2	period circadian regulator 2	gene	DOID:0110011	advanced sleep phase syndrome 1		ISO	RGD:737181	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Advanced sleep phase syndrome 1 | ClinVar Annotator: match by term: PER2-related condition	PMID:25741868|PMID:28492532
8702712	Per2	period circadian regulator 2	gene	DOID:10534	stomach cancer		ISO	RGD:737181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8702712	Per2	period circadian regulator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8702712	Per2	period circadian regulator 2	gene	DOID:11718	antidepressant type abuse		ISO	RGD:62238	D	RGD:9068941	20240627	RGD		mRNA:increased expression, decreased expression:hippocampal formation, caudate-putamen (mouse)	PMID:15994025|REF_RGD_ID:405866348
8702712	Per2	period circadian regulator 2	gene	DOID:1324	lung cancer		ISO	RGD:737181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8702712	Per2	period circadian regulator 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:61945	D	RGD:9068941	20241010	RGD		mRNA:altered expression: arcuate nucleus of hypothalamus, suprachiasmatic nucleus	PMID:15009656|REF_RGD_ID:407572515
8702712	Per2	period circadian regulator 2	gene	DOID:3275	thymoma		ISO	RGD:737181	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8702712	Per2	period circadian regulator 2	gene	DOID:4362	cervical cancer		ISO	RGD:737181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8702712	Per2	period circadian regulator 2	gene	DOID:5041	esophageal cancer		ISO	RGD:737181	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8702712	Per2	period circadian regulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702712	Per2	period circadian regulator 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:737181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8702712	Per2	period circadian regulator 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8702712	Per2	period circadian regulator 2	gene	DOID:809	cocaine abuse		ISO	RGD:62238	D	RGD:9068941	20240627	RGD		mRNA:increased expression, decreased expression:hippocampal formation, caudate-putamen (mouse)	PMID:15994025|REF_RGD_ID:405866348
8702712	Per2	period circadian regulator 2	gene	DOID:9000499	Alcoholic Intoxication		ISO	RGD:737181	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15608650
8702712	Per2	period circadian regulator 2	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:61945	D	RGD:9068941	20240718	RGD		associated with alcohol use disorder;mRNA:altered expression: arcuate nucleus of hypothalamus, suprachiasmatic nucleus	PMID:16686691|REF_RGD_ID:405866367
8702712	Per2	period circadian regulator 2	gene	DOID:9002735	alcohol withdrawal syndrome	severity	ISO	RGD:737181	D	RGD:9068941	20240302	RGD		mRNA:decreased expression:Peripheral blood mononuclear cell (human)	PMID:20735373|REF_RGD_ID:401976556
8702712	Per2	period circadian regulator 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:737181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8702712	Per2	period circadian regulator 2	gene	DOID:9005111	morphine withdrawal syndrome	ameliorates	ISO	RGD:62238	D	RGD:9068941	20240229	RGD			PMID:20434889|REF_RGD_ID:401976532
8702712	Per2	period circadian regulator 2	gene	DOID:9006302	Binge Drinking		ISO	RGD:737181	D	RGD:9068941	20240711	RGD		DNA, mRNA:hypermethylation, decreased expression:blood	PMID:30597578|REF_RGD_ID:405878075
8702712	Per2	period circadian regulator 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8702712	Per2	period circadian regulator 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8702712	Per2	period circadian regulator 2	gene	DOID:9975	cocaine dependence	susceptibility	ISO	RGD:737181	D	RGD:9068941	20240229	RGD		DNA:repeats::	PMID:22832851|REF_RGD_ID:401976513
8702771	Hdac9	histone deacetylase 9	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868
8702771	Hdac9	histone deacetylase 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8702771	Hdac9	histone deacetylase 9	gene	DOID:0051061	stroke		ISO	RGD:1353912	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22306652
8702771	Hdac9	histone deacetylase 9	gene	DOID:10534	stomach cancer		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8702771	Hdac9	histone deacetylase 9	gene	DOID:1115	sarcoma		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8702771	Hdac9	histone deacetylase 9	gene	DOID:1324	lung cancer		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8702771	Hdac9	histone deacetylase 9	gene	DOID:1909	melanoma		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8702771	Hdac9	histone deacetylase 9	gene	DOID:1936	atherosclerosis		ISO	RGD:1353912	D	RGD:9068941	20230608	CTD		CTD Direct Evidence: marker/mechanism	PMID:36322813
8702771	Hdac9	histone deacetylase 9	gene	DOID:3070	high grade glioma		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8702771	Hdac9	histone deacetylase 9	gene	DOID:3275	thymoma		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8702771	Hdac9	histone deacetylase 9	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1310748	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain:	PMID:23480850|REF_RGD_ID:9681449
8702771	Hdac9	histone deacetylase 9	gene	DOID:4362	cervical cancer		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8702771	Hdac9	histone deacetylase 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8702771	Hdac9	histone deacetylase 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1353912	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8702771	Hdac9	histone deacetylase 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8702771	Hdac9	histone deacetylase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702771	Hdac9	histone deacetylase 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8702771	Hdac9	histone deacetylase 9	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:1353912	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374069
8702771	Hdac9	histone deacetylase 9	gene	DOID:9006579	Auriculocondylar Syndrome 4		ISO	RGD:1353912	D	RGD:7240710	20230802	OMIM			
8702771	Hdac9	histone deacetylase 9	gene	DOID:9006579	Auriculocondylar Syndrome 4		ISO	RGD:1353912	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Auriculocondylar syndrome 4	
8702771	Hdac9	histone deacetylase 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8702771	Hdac9	histone deacetylase 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8702771	Hdac9	histone deacetylase 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8702839	Tbl2	transducin beta like 2	gene	DOID:0080600	COVID-19		ISO	RGD:1354068	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8702839	Tbl2	transducin beta like 2	gene	DOID:10907	microcephaly		ISO	RGD:1354068	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8702839	Tbl2	transducin beta like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1354068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8702839	Tbl2	transducin beta like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1354068	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8702839	Tbl2	transducin beta like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702839	Tbl2	transducin beta like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8702839	Tbl2	transducin beta like 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1354068	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8702839	Tbl2	transducin beta like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8702856	Znf750	zinc finger protein 750	gene	DOID:9001638	Seborrhea-Like Dermatitis with Psoriasiform Elements		ISO	RGD:1602862	D	RGD:7240710	20180130	OMIM			
8702863	Garnl3	GTPase activating Rap/RanGAP domain like 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8702863	Garnl3	GTPase activating Rap/RanGAP domain like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8702863	Garnl3	GTPase activating Rap/RanGAP domain like 3	gene	DOID:1059	intellectual disability		ISO	RGD:1346418	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual Disability	
8702863	Garnl3	GTPase activating Rap/RanGAP domain like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8702863	Garnl3	GTPase activating Rap/RanGAP domain like 3	gene	DOID:1115	sarcoma		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8702863	Garnl3	GTPase activating Rap/RanGAP domain like 3	gene	DOID:1324	lung cancer		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8702863	Garnl3	GTPase activating Rap/RanGAP domain like 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8702863	Garnl3	GTPase activating Rap/RanGAP domain like 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1346418	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8702863	Garnl3	GTPase activating Rap/RanGAP domain like 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8702863	Garnl3	GTPase activating Rap/RanGAP domain like 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8702863	Garnl3	GTPase activating Rap/RanGAP domain like 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8702863	Garnl3	GTPase activating Rap/RanGAP domain like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8702863	Garnl3	GTPase activating Rap/RanGAP domain like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8702863	Garnl3	GTPase activating Rap/RanGAP domain like 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8702923	Ss18l1	SS18L1 subunit of BAF chromatin remodeling complex	gene	DOID:10534	stomach cancer		ISO	RGD:1345361	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8702923	Ss18l1	SS18L1 subunit of BAF chromatin remodeling complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8702923	Ss18l1	SS18L1 subunit of BAF chromatin remodeling complex	gene	DOID:3275	thymoma		ISO	RGD:1345361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8702923	Ss18l1	SS18L1 subunit of BAF chromatin remodeling complex	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1345361	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868
8702923	Ss18l1	SS18L1 subunit of BAF chromatin remodeling complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702923	Ss18l1	SS18L1 subunit of BAF chromatin remodeling complex	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8702957	Arpc1a	actin related protein 2/3 complex subunit 1A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8702957	Arpc1a	actin related protein 2/3 complex subunit 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8702957	Arpc1a	actin related protein 2/3 complex subunit 1A	gene	DOID:0060058	lymphoma		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8702957	Arpc1a	actin related protein 2/3 complex subunit 1A	gene	DOID:10534	stomach cancer		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8702957	Arpc1a	actin related protein 2/3 complex subunit 1A	gene	DOID:1324	lung cancer		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8702957	Arpc1a	actin related protein 2/3 complex subunit 1A	gene	DOID:1793	pancreatic cancer		ISO	RGD:1344294	D	RGD:9068941	20200609	RGD		DNA:amplification (human)	PMID:19145645|REF_RGD_ID:2317557
8702957	Arpc1a	actin related protein 2/3 complex subunit 1A	gene	DOID:4362	cervical cancer		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8702957	Arpc1a	actin related protein 2/3 complex subunit 1A	gene	DOID:5419	schizophrenia		ISO	RGD:1344294	D	RGD:9068941	20200609	RGD		protein:decreased expression:prefrontal cortex (human)	PMID:15098003|REF_RGD_ID:11571619
8702957	Arpc1a	actin related protein 2/3 complex subunit 1A	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8702957	Arpc1a	actin related protein 2/3 complex subunit 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702957	Arpc1a	actin related protein 2/3 complex subunit 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8702957	Arpc1a	actin related protein 2/3 complex subunit 1A	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8702957	Arpc1a	actin related protein 2/3 complex subunit 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8702957	Arpc1a	actin related protein 2/3 complex subunit 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8702971	Tmem120a	transmembrane protein 120A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8702971	Tmem120a	transmembrane protein 120A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8702971	Tmem120a	transmembrane protein 120A	gene	DOID:10534	stomach cancer		ISO	RGD:1605325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8702971	Tmem120a	transmembrane protein 120A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8702971	Tmem120a	transmembrane protein 120A	gene	DOID:1324	lung cancer		ISO	RGD:1605325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8702971	Tmem120a	transmembrane protein 120A	gene	DOID:4362	cervical cancer		ISO	RGD:1605325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8702971	Tmem120a	transmembrane protein 120A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8702971	Tmem120a	transmembrane protein 120A	gene	DOID:6039	uveal melanoma		ISO	RGD:1605325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8702971	Tmem120a	transmembrane protein 120A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8702971	Tmem120a	transmembrane protein 120A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8702971	Tmem120a	transmembrane protein 120A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8702994	Abcc12	ATP binding cassette subfamily C member 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8702994	Abcc12	ATP binding cassette subfamily C member 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8702994	Abcc12	ATP binding cassette subfamily C member 12	gene	DOID:1909	melanoma		ISO	RGD:1342698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8702994	Abcc12	ATP binding cassette subfamily C member 12	gene	DOID:3275	thymoma		ISO	RGD:1342698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8702994	Abcc12	ATP binding cassette subfamily C member 12	gene	DOID:4961	bone marrow disease		ISO	RGD:1342698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18466103
8702994	Abcc12	ATP binding cassette subfamily C member 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8702994	Abcc12	ATP binding cassette subfamily C member 12	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1342698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18466103
8702994	Abcc12	ATP binding cassette subfamily C member 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8703039	Numbl	NUMB like endocytic adaptor protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316854	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703039	Numbl	NUMB like endocytic adaptor protein	gene	DOID:10534	stomach cancer		ISO	RGD:1316854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8703039	Numbl	NUMB like endocytic adaptor protein	gene	DOID:4362	cervical cancer		ISO	RGD:1316854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8703039	Numbl	NUMB like endocytic adaptor protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8703039	Numbl	NUMB like endocytic adaptor protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1316854	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8703039	Numbl	NUMB like endocytic adaptor protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703039	Numbl	NUMB like endocytic adaptor protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8703055	Polr1h	RNA polymerase I subunit H	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1351679	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16609701
8703055	Polr1h	RNA polymerase I subunit H	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1351679	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16609701
8703074	Spmip9	sperm microtubule inner protein 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8703074	Spmip9	sperm microtubule inner protein 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8703091	Tmem143	transmembrane protein 143	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703091	Tmem143	transmembrane protein 143	gene	DOID:3275	thymoma		ISO	RGD:1602477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8703091	Tmem143	transmembrane protein 143	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8703091	Tmem143	transmembrane protein 143	gene	DOID:5041	esophageal cancer		ISO	RGD:1602477	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8703091	Tmem143	transmembrane protein 143	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703091	Tmem143	transmembrane protein 143	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8703091	Tmem143	transmembrane protein 143	gene	DOID:9256	colorectal cancer		ISO	RGD:1602477	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:0080000	muscular disease		ISO	RGD:1346949	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17600820
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:10914	amnestic disorder		ISO	RGD:71034	D	RGD:9068941	20200609	RGD			PMID:18570192|REF_RGD_ID:6482184
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:10933	obsessive-compulsive disorder		ISO	RGD:732164	D	RGD:9068941	20200609	RGD			PMID:17267119|REF_RGD_ID:6482188
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:1324	lung cancer		ISO	RGD:1346949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:1561	cognitive disorder		ISO	RGD:71034	D	RGD:9068941	20200609	RGD			PMID:21558435|REF_RGD_ID:6480666
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:1574	alcohol use disorder		ISO	RGD:1346949	D	RGD:9068941	20211008	RGD		DNA:SNP:intron: (rs7916403) (human)	PMID:21184583|REF_RGD_ID:150429835
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:1596	depressive disorder		ISO	RGD:1346949	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21859099
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:1596	depressive disorder		ISO	RGD:732164	D	RGD:9068941	20200609	RGD			PMID:16828124|REF_RGD_ID:6482189
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:1825	childhood absence epilepsy		ISO	RGD:71034	D	RGD:9068941	20200609	RGD			PMID:15050708|REF_RGD_ID:6480686
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:1826	epilepsy		ISO	RGD:732164	D	RGD:9068941	20200609	RGD			PMID:17485199|REF_RGD_ID:6482190
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:1909	melanoma		ISO	RGD:1346949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:2030	anxiety disorder		ISO	RGD:1346949	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21859099
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:2030	anxiety disorder		ISO	RGD:71034	D	RGD:9068941	20200609	RGD			PMID:16828124|REF_RGD_ID:6482189
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:2030	anxiety disorder		ISO	RGD:732164	D	RGD:9068941	20200609	RGD			PMID:16828124|REF_RGD_ID:6482189
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:4362	cervical cancer		ISO	RGD:1346949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:535	sleep disorder		ISO	RGD:1346949	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21859099
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:5419	schizophrenia		ISO	RGD:1346949	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12165372
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:6364	migraine		ISO	RGD:71034	D	RGD:9068941	20200609	RGD			PMID:20236348|REF_RGD_ID:6482182
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:8927	learning disability		ISO	RGD:1346949	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21859099
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:9000641	Pain		ISO	RGD:1346949	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17600820
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:9000998	Brain Injuries		ISO	RGD:71034	D	RGD:9068941	20200609	RGD			PMID:22465320|REF_RGD_ID:6482178
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:71034	D	RGD:9068941	20200609	RGD		protein:decreased expression: :	PMID:21693130|REF_RGD_ID:6480665
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:9002211	Hyperalgesia		ISO	RGD:71034	D	RGD:9068941	20200609	RGD			PMID:21693130|PMID:21843960|REF_RGD_ID:6480665|REF_RGD_ID:6482179
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:9002362	Hyperkinesis		ISO	RGD:732164	D	RGD:9068941	20200609	RGD			PMID:18332680|REF_RGD_ID:6482186
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:9008023	Memory Disorders		ISO	RGD:1346949	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21859099
8703103	Htr7	5-hydroxytryptamine receptor 7	gene	DOID:9778	irritable bowel syndrome		ISO	RGD:71034	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, intestine	PMID:18167178|REF_RGD_ID:6480673
8703124	Crtc3	CREB regulated transcription coactivator 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703124	Crtc3	CREB regulated transcription coactivator 3	gene	DOID:10283	prostate cancer		ISO	RGD:1604314	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8703124	Crtc3	CREB regulated transcription coactivator 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703124	Crtc3	CREB regulated transcription coactivator 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8703124	Crtc3	CREB regulated transcription coactivator 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8703142	Ubxn2b	UBX domain protein 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2299012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703142	Ubxn2b	UBX domain protein 2B	gene	DOID:1115	sarcoma		ISO	RGD:2299012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8703142	Ubxn2b	UBX domain protein 2B	gene	DOID:4362	cervical cancer		ISO	RGD:2299012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8703142	Ubxn2b	UBX domain protein 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2299012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703142	Ubxn2b	UBX domain protein 2B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:2299012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8703142	Ubxn2b	UBX domain protein 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2299012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8703142	Ubxn2b	UBX domain protein 2B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2299012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8703142	Ubxn2b	UBX domain protein 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2299012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8703142	Ubxn2b	UBX domain protein 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2299012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8703164	Psmb6	proteasome 20S subunit beta 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8703164	Psmb6	proteasome 20S subunit beta 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8703164	Psmb6	proteasome 20S subunit beta 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703164	Psmb6	proteasome 20S subunit beta 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8703174	Cmtm4	CKLF like MARVEL transmembrane domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1320683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8703174	Cmtm4	CKLF like MARVEL transmembrane domain containing 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8703174	Cmtm4	CKLF like MARVEL transmembrane domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1320683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8703174	Cmtm4	CKLF like MARVEL transmembrane domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1320683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8703174	Cmtm4	CKLF like MARVEL transmembrane domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703174	Cmtm4	CKLF like MARVEL transmembrane domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8703174	Cmtm4	CKLF like MARVEL transmembrane domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8703196	Lypd6b	LY6/PLAUR domain containing 6B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8703196	Lypd6b	LY6/PLAUR domain containing 6B	gene	DOID:10534	stomach cancer		ISO	RGD:1602653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8703196	Lypd6b	LY6/PLAUR domain containing 6B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8703196	Lypd6b	LY6/PLAUR domain containing 6B	gene	DOID:4362	cervical cancer		ISO	RGD:1602653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8703196	Lypd6b	LY6/PLAUR domain containing 6B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703196	Lypd6b	LY6/PLAUR domain containing 6B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8703196	Lypd6b	LY6/PLAUR domain containing 6B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8703196	Lypd6b	LY6/PLAUR domain containing 6B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8703196	Lypd6b	LY6/PLAUR domain containing 6B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8703205	Ilrun	inflammation and lipid regulator with UBA-like and NBR1-like domains	gene	DOID:1115	sarcoma		ISO	RGD:1601978	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8703205	Ilrun	inflammation and lipid regulator with UBA-like and NBR1-like domains	gene	DOID:1324	lung cancer		ISO	RGD:1601978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8703205	Ilrun	inflammation and lipid regulator with UBA-like and NBR1-like domains	gene	DOID:3275	thymoma		ISO	RGD:1601978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8703205	Ilrun	inflammation and lipid regulator with UBA-like and NBR1-like domains	gene	DOID:5041	esophageal cancer		ISO	RGD:1601978	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8703225	Alkbh1	alkB homolog 1, histone H2A dioxygenase	gene	DOID:3070	high grade glioma		ISO	RGD:1318033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8703225	Alkbh1	alkB homolog 1, histone H2A dioxygenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703225	Alkbh1	alkB homolog 1, histone H2A dioxygenase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8703235	Sall1	spalt like transcription factor 1	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8703235	Sall1	spalt like transcription factor 1	gene	DOID:0050581	brachydactyly		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:0050591	tooth agenesis		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tooth agenesis	PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:0050887	Townes-Brocks syndrome		ISO	RGD:1320515	D	RGD:7240710	20180130	OMIM			
8703235	Sall1	spalt like transcription factor 1	gene	DOID:0050887	Townes-Brocks syndrome		ISO	RGD:1320515	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: REAR SYNDROME | ClinVar Annotator: match by term: Renal-ear-anal-radial syndrome | ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: TOWNES-BROCKS SYNDROME | ClinVar Annotator: match by term: TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1	PMID:10533063|PMID:10819639|PMID:11102974|PMID:12915476|PMID:14627694|PMID:14755477|PMID:16088922|PMID:16429401|PMID:16971658|PMID:17221874|PMID:17576681|PMID:18000979|PMID:19005989|PMID:19429598|PMID:20301618|PMID:22308078|PMID:23069192|PMID:23894113|PMID:24429398|PMID:25741868|PMID:25741886|PMID:26380986|PMID:26467025|PMID:26489027|PMID:27073431|PMID:27657687|PMID:28492532|PMID:29395072|PMID:29758562|PMID:30311386|PMID:30655312|PMID:32656166|PMID:34426522|PMID:34906515|PMID:36362878|PMID:36549658|PMID:40658219|PMID:9536098|PMID:9973281
8703235	Sall1	spalt like transcription factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:0111766	X-linked VACTERL association		ISO	RGD:1320515	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: VACTERL-H	PMID:24429398|PMID:25741868|PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:10488	imperforate anus		ISO	RGD:1320515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:10533063|PMID:12915476|PMID:14627694|PMID:16088922|PMID:19005989|PMID:23069192|PMID:25741868|PMID:28492532|PMID:30655312|PMID:9973281
8703235	Sall1	spalt like transcription factor 1	gene	DOID:10907	microcephaly		ISO	RGD:1320515	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8703235	Sall1	spalt like transcription factor 1	gene	DOID:11193	syndactyly		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-syndromic syndactyly	PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:11502	mitral valve insufficiency		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral regurgitation	PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:13620	patent foramen ovale		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:14766	renal agenesis		ISO	RGD:1320516	D	RGD:9068941	20221103	RGD			PMID:11688560|REF_RGD_ID:155641230
8703235	Sall1	spalt like transcription factor 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:2810	middle lobe syndrome		ISO	RGD:1320515	D	RGD:9068941	20200609	RGD		Townes-Brocks syndrome. OMIM:602218	PMID:11102974|PMID:16088922|REF_RGD_ID:1599551|REF_RGD_ID:1599553
8703235	Sall1	spalt like transcription factor 1	gene	DOID:4667	kyphosis		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:5176	renal Wilms' tumor		ISO	RGD:1320515	D	RGD:9068941	20221103	RGD		human tumor in mouse model	PMID:18467665|REF_RGD_ID:155631277
8703235	Sall1	spalt like transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:630	genetic disease		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12915476|PMID:16088922|PMID:23069192|PMID:25741868|PMID:28492532|PMID:9973281
8703235	Sall1	spalt like transcription factor 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868
8703235	Sall1	spalt like transcription factor 1	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:687	hepatoblastoma		ISO	RGD:1320515	D	RGD:9068941	20200609	RGD		embryonal subtype;protein:increased expression:liver, nucleus (human)	PMID:23822878|REF_RGD_ID:11556217
8703235	Sall1	spalt like transcription factor 1	gene	DOID:784	chronic kidney disease	treatment	ISO	RGD:1320515	D	RGD:9068941	20221103	RGD		human cells in rat model	PMID:33298161|REF_RGD_ID:155631310
8703235	Sall1	spalt like transcription factor 1	gene	DOID:9000101	Rectovaginal Fistula		ISO	RGD:1320515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rectovaginal fistula	PMID:10533063|PMID:12915476|PMID:14627694|PMID:16088922|PMID:19005989|PMID:23069192|PMID:25741868|PMID:28492532|PMID:30655312|PMID:9973281
8703235	Sall1	spalt like transcription factor 1	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1320515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:10533063|PMID:12915476|PMID:14627694|PMID:16088922|PMID:19005989|PMID:23069192|PMID:25741868|PMID:28492532|PMID:30655312|PMID:9973281
8703235	Sall1	spalt like transcription factor 1	gene	DOID:9001425	Triphalangeal Thumb		ISO	RGD:1320515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Triphalangeal thumb	PMID:10533063|PMID:12915476|PMID:14627694|PMID:16088922|PMID:19005989|PMID:23069192|PMID:25741868|PMID:28492532|PMID:30655312|PMID:9973281
8703235	Sall1	spalt like transcription factor 1	gene	DOID:9001581	Constipation		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:9002589	Bone Fractures		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:9004452	Townes-Brocks-Branchiootorenal-Like Syndrome		ISO	RGD:1320515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME	PMID:14755477|PMID:16088922|PMID:23069192|PMID:28492532|PMID:9973281
8703235	Sall1	spalt like transcription factor 1	gene	DOID:9004994	Embryo Loss		ISO	RGD:1320516	D	RGD:9068941	20221103	RGD			PMID:11688560|REF_RGD_ID:155641230
8703235	Sall1	spalt like transcription factor 1	gene	DOID:9005835	Congenital Abnormalities		ISO	RGD:1320515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20127799
8703235	Sall1	spalt like transcription factor 1	gene	DOID:9006294	Congenital Limb Deformities		ISO	RGD:1320515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16088922|PMID:9425907
8703235	Sall1	spalt like transcription factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1320515	D	RGD:9068941	20200609	RGD		Townes-Brocks syndrome. OMIM:602218	PMID:11102974|PMID:16088922|REF_RGD_ID:1599551|REF_RGD_ID:1599553
8703235	Sall1	spalt like transcription factor 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868
8703235	Sall1	spalt like transcription factor 1	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:28492532
8703235	Sall1	spalt like transcription factor 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:28492532
8703262	Ciroz	ciliated left-right organizer protein containing ZP-N domains	gene	DOID:0050144	Kartagener syndrome		ISO	RGD:1617356	D	RGD:9068941	20220825	MouseDO			
8703262	Ciroz	ciliated left-right organizer protein containing ZP-N domains	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8703262	Ciroz	ciliated left-right organizer protein containing ZP-N domains	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1617356	D	RGD:9068941	20220825	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
8703262	Ciroz	ciliated left-right organizer protein containing ZP-N domains	gene	DOID:0061123	visceral heterotaxy 14		ISO	RGD:1606706	D	RGD:7240710	20250205	OMIM			
8703262	Ciroz	ciliated left-right organizer protein containing ZP-N domains	gene	DOID:0061123	visceral heterotaxy 14		ISO	RGD:1606706	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 14, AUTOSOMAL | ClinVar Annotator: match by term: Heterotaxy, visceral, 14, autosomal	PMID:25741868|PMID:34768622|PMID:39753129
8703262	Ciroz	ciliated left-right organizer protein containing ZP-N domains	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8703262	Ciroz	ciliated left-right organizer protein containing ZP-N domains	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703262	Ciroz	ciliated left-right organizer protein containing ZP-N domains	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1617356	D	RGD:9068941	20220825	MouseDO			
8703262	Ciroz	ciliated left-right organizer protein containing ZP-N domains	gene	DOID:9565	dextrocardia		ISO	RGD:1617356	D	RGD:9068941	20250403	MouseDO			
8703281	Slc7a4	solute carrier family 7 member 4	gene	DOID:1324	lung cancer		ISO	RGD:1314214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8703281	Slc7a4	solute carrier family 7 member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703281	Slc7a4	solute carrier family 7 member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8703293	Rgs7bp	regulator of G protein signaling 7 binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1604905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8703293	Rgs7bp	regulator of G protein signaling 7 binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1604905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8703293	Rgs7bp	regulator of G protein signaling 7 binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8703293	Rgs7bp	regulator of G protein signaling 7 binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:0050573	2-hydroxyglutaric aciduria		ISO	RGD:1313391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27469509
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:0050575	D-2-hydroxyglutaric aciduria	treatment	ISO	RGD:1557355	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:p.R140Q(mouse)	PMID:27469509|REF_RGD_ID:13506812
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:0050749	peripheral T-cell lymphoma		ISO	RGD:1313391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413734|PMID:24413737
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1313391	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myelodysplastic syndromes	PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:0051064	left ventricular failure		ISO	RGD:1313391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27469509
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1313391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26285909
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:0080005	bone remodeling disease		ISO	RGD:1557355	D	RGD:9068941	20220825	MouseDO			
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	severity	ISO	RGD:1557355	D	RGD:9068941	20200609	RGD			PMID:29861476|REF_RGD_ID:14985251
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	susceptibility	ISO	RGD:1557355	D	RGD:9068941	20200609	RGD			PMID:31064654|REF_RGD_ID:14985252
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	ameliorates	ISO	RGD:1557355	D	RGD:9068941	20210730	RGD			PMID:28415887|REF_RGD_ID:14985253
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:0111352	D-2-hydroxyglutaric aciduria 2		ISO	RGD:1313391	D	RGD:7240710	20190918	OMIM			
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:0111352	D-2-hydroxyglutaric aciduria 2		ISO	RGD:1313391	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: D-2-HYDROXYGLUTARIC ACIDURIA 2 | ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 | ClinVar Annotator: match by term: IDH2-related condition	PMID:16199547|PMID:17576681|PMID:18414213|PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:30975432|PMID:34641967|PMID:35101336|PMID:9536098
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313391	D	RGD:9068941	20210723	RGD		protein:decreased expression:stomach (human)	PMID:27466503|REF_RGD_ID:149735569
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1313391	D	RGD:9068941	20210730	RGD		protein:decreased expression:stomach (human)	PMID:25098926|REF_RGD_ID:149735841
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:1059	intellectual disability		ISO	RGD:1313391	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:1074	kidney failure		ISO	RGD:1313391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27469509
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:10907	microcephaly		ISO	RGD:1313391	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:10908	hydrocephalus		ISO	RGD:1313391	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:11111	hydronephrosis		ISO	RGD:1313391	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:1115	sarcoma		ISO	RGD:1313391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:11476	osteoporosis		ISO	RGD:1313391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:11832	visual epilepsy		ISO	RGD:1313391	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:27469509
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1313391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27469509
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:1324	lung cancer		ISO	RGD:1313391	D	RGD:9068941	20210723	RGD			PMID:30128035|REF_RGD_ID:149735564
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1313391	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:19228619|PMID:20171147|PMID:20847235|PMID:21326614|PMID:21647154|PMID:21889589|PMID:22309944|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336|PMID:39434542
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:1824	status epilepticus		ISO	RGD:1597139	D	RGD:9068941	20200609	RGD		protein:increased acetylation:hippocampus	PMID:29778462|REF_RGD_ID:14985255
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:1826	epilepsy		ISO	RGD:1313391	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:255	hemangioma		ISO	RGD:1313391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22057234
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:2602	chondroma		ISO	RGD:1313391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22057234|PMID:25895133
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:3181	oligodendroglioma		ISO	RGD:1313391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20160062
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:3307	teratoma		ISO	RGD:1313391	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:331	central nervous system disease		ISO	RGD:1313391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27469509
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:3748	esophagus squamous cell carcinoma	severity	ISO	RGD:1313391	D	RGD:9068941	20210723	RGD		human cells in mouse model	PMID:32367071|REF_RGD_ID:149735568
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313391	D	RGD:9068941	20210723	RGD		protein:increased expression:lung (human)	PMID:30128035|REF_RGD_ID:149735564
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:3907	lung squamous cell carcinoma	severity	ISO	RGD:1313391	D	RGD:9068941	20210723	RGD		protein:increased expression:blood serum (human)	PMID:29465809|REF_RGD_ID:149735567
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:3907	lung squamous cell carcinoma	susceptibility	ISO	RGD:1313391	D	RGD:9068941	20210723	RGD		DNA:SNP:CD: (rs11540478) C>T (human)	PMID:27649069|REF_RGD_ID:149735566
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1313391	D	RGD:9068941	20210820	RGD		DNA:SNP: (rs11540478) (human)	PMID:25576295|REF_RGD_ID:150340558
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1313391	D	RGD:9068941	20210723	RGD		protein:increased expression:lung (human)	PMID:30128035|REF_RGD_ID:149735564
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1313391	D	RGD:9068941	20210723	RGD		protein:increased expression:blood serum (human)	PMID:29465809|REF_RGD_ID:149735567
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:4624	Ollier disease		ISO	RGD:1313391	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:22057234|PMID:22057236
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:4928	intrahepatic cholangiocarcinoma		ISO	RGD:1557355	D	RGD:9068941	20210730	RGD		mRNA:decreased expression:liver (mouse)	PMID:32463951|REF_RGD_ID:149735894
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:4928	intrahepatic cholangiocarcinoma	disease_progression	ISO	RGD:1313391	D	RGD:9068941	20200609	RGD		DNA:mutations: :	PMID:22824796|REF_RGD_ID:14985256
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24185509
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:5016	hepatocellular clear cell carcinoma	disease_progression	ISO	RGD:1313391	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :rs11632348(human)	PMID:25355558|REF_RGD_ID:14974228
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:630	genetic disease		ISO	RGD:1313391	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:674	cleft palate		ISO	RGD:1313391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1313391	D	RGD:9068941	20200609	RGD			PMID:24716838|REF_RGD_ID:14985249
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1313391	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:8398	osteoarthritis		ISO	RGD:1313391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1313391	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:9002159	Liver Reperfusion Injury	severity	ISO	RGD:1557355	D	RGD:9068941	20200609	RGD			PMID:28938192|REF_RGD_ID:14985248
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:9003191	Vascular Malformations		ISO	RGD:1313391	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Vascular malformation	
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1313391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27469509
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:9004253	Immunoblastic Lymphadenopathy		ISO	RGD:1313391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413737
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1313391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26285909
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1313391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27469509
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:9006257	Growth Disorders		ISO	RGD:1313391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27469509
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:9006646	Metabolic Syndrome	susceptibility	ISO	RGD:1557355	D	RGD:9068941	20200609	RGD			PMID:31064654|REF_RGD_ID:14985252
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	severity	ISO	RGD:1557355	D	RGD:9068941	20200609	RGD			PMID:31121248|REF_RGD_ID:14985250
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1313391	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1313391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27469509
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313391	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult	PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:28492532
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1313391	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:p.R140 (human)	PMID:25324972|REF_RGD_ID:11522721
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1313391	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:p.R172(human)	PMID:20368543|REF_RGD_ID:11522718
8703303	Idh2	isocitrate dehydrogenase (NADP(+)) 2	gene	DOID:9408	acute myocardial infarction		ISO	RGD:1313391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myocardial infarction	PMID:19228619|PMID:19554337|PMID:20171147|PMID:21326614|PMID:22072542|PMID:25043045|PMID:26061751|PMID:27993330|PMID:34185076|PMID:35101336
8703320	Srsf4	serine and arginine rich splicing factor 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8703320	Srsf4	serine and arginine rich splicing factor 4	gene	DOID:10534	stomach cancer		ISO	RGD:1350526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8703320	Srsf4	serine and arginine rich splicing factor 4	gene	DOID:1115	sarcoma		ISO	RGD:1350526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8703320	Srsf4	serine and arginine rich splicing factor 4	gene	DOID:1324	lung cancer		ISO	RGD:1350526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8703320	Srsf4	serine and arginine rich splicing factor 4	gene	DOID:14250	Down syndrome		ISO	RGD:1350526	D	RGD:9068941	20200609	RGD		protein:increased expression:amniotic fluid (human)	PMID:16847874|REF_RGD_ID:11039402
8703320	Srsf4	serine and arginine rich splicing factor 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350526	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:colon mucosa (human)	PMID:9865741|REF_RGD_ID:11039405
8703320	Srsf4	serine and arginine rich splicing factor 4	gene	DOID:3275	thymoma		ISO	RGD:1350526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8703320	Srsf4	serine and arginine rich splicing factor 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8703320	Srsf4	serine and arginine rich splicing factor 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350526	D	RGD:9068941	20200609	RGD		mRNA:altered expression:kidney (human)	PMID:21082031|REF_RGD_ID:11039407
8703320	Srsf4	serine and arginine rich splicing factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703320	Srsf4	serine and arginine rich splicing factor 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350526	D	RGD:9068941	20200609	RGD		mRNA:decreased expression: (human)	PMID:22722453|REF_RGD_ID:11039059
8703342	Haus2	HAUS augmin like complex subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8703342	Haus2	HAUS augmin like complex subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703342	Haus2	HAUS augmin like complex subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321425	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8703342	Haus2	HAUS augmin like complex subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1321425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8703342	Haus2	HAUS augmin like complex subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321425	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8703342	Haus2	HAUS augmin like complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703342	Haus2	HAUS augmin like complex subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8703342	Haus2	HAUS augmin like complex subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8703342	Haus2	HAUS augmin like complex subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8703413	Acad10	acyl-CoA dehydrogenase family member 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8703413	Acad10	acyl-CoA dehydrogenase family member 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703413	Acad10	acyl-CoA dehydrogenase family member 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8703413	Acad10	acyl-CoA dehydrogenase family member 10	gene	DOID:1115	sarcoma		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8703413	Acad10	acyl-CoA dehydrogenase family member 10	gene	DOID:1324	lung cancer		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8703413	Acad10	acyl-CoA dehydrogenase family member 10	gene	DOID:1909	melanoma		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8703413	Acad10	acyl-CoA dehydrogenase family member 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8703413	Acad10	acyl-CoA dehydrogenase family member 10	gene	DOID:3275	thymoma		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8703413	Acad10	acyl-CoA dehydrogenase family member 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8703413	Acad10	acyl-CoA dehydrogenase family member 10	gene	DOID:4362	cervical cancer		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8703413	Acad10	acyl-CoA dehydrogenase family member 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8703413	Acad10	acyl-CoA dehydrogenase family member 10	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8703413	Acad10	acyl-CoA dehydrogenase family member 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703413	Acad10	acyl-CoA dehydrogenase family member 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8703441	Mtmr2	myotubularin related protein 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1323545	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:10802647|PMID:11335693|PMID:11354824|PMID:12398840|PMID:16199547|PMID:17576681|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:32214227|PMID:32376792|PMID:9536098
8703441	Mtmr2	myotubularin related protein 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1323545	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:10802647|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:14530412|PMID:16199547|PMID:17576681|PMID:17973976|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:32214227|PMID:32376792|PMID:8190646|PMID:9536098
8703441	Mtmr2	myotubularin related protein 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1323545	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:10802647|PMID:10856930|PMID:11283303|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:12668758|PMID:12925573|PMID:14530412|PMID:16162938|PMID:16199547|PMID:17576681|PMID:17973976|PMID:19587293|PMID:20410104|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:32214227|PMID:32376792|PMID:32657593|PMID:8190646|PMID:9536098
8703441	Mtmr2	myotubularin related protein 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1323545	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy	PMID:10802647|PMID:10856930|PMID:11283303|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:12668758|PMID:12925573|PMID:14530412|PMID:16162938|PMID:16199547|PMID:17576681|PMID:17973976|PMID:19587293|PMID:20410104|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:31070812|PMID:31680794|PMID:32214227|PMID:32376792|PMID:32657593|PMID:8190646|PMID:9536098
8703441	Mtmr2	myotubularin related protein 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:10802647|PMID:10856930|PMID:11283303|PMID:11354824|PMID:12668758|PMID:12925573|PMID:16162938|PMID:16199547|PMID:17576681|PMID:19587293|PMID:20410104|PMID:20981092|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27697855|PMID:28190646|PMID:28492532|PMID:32376792|PMID:32657593|PMID:8190646|PMID:9536098
8703441	Mtmr2	myotubularin related protein 2	gene	DOID:0110191	Charcot-Marie-Tooth disease type 4B1		ISO	RGD:1323545	D	RGD:7240710	20180130	OMIM			
8703441	Mtmr2	myotubularin related protein 2	gene	DOID:0110191	Charcot-Marie-Tooth disease type 4B1		ISO	RGD:1323545	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1	PMID:10802647|PMID:11354824|PMID:17576681|PMID:20301641|PMID:20981092|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31070812|PMID:31680794|PMID:32214227|PMID:32376792|PMID:9536098
8703441	Mtmr2	myotubularin related protein 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10802647|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:12837694|PMID:14530412|PMID:15469949|PMID:15505184|PMID:17973976|PMID:20981092|PMID:23781969|PMID:25025039|PMID:25231362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792
8703441	Mtmr2	myotubularin related protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8703441	Mtmr2	myotubularin related protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8703441	Mtmr2	myotubularin related protein 2	gene	DOID:1909	melanoma		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8703441	Mtmr2	myotubularin related protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8703441	Mtmr2	myotubularin related protein 2	gene	DOID:3275	thymoma		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8703441	Mtmr2	myotubularin related protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8703441	Mtmr2	myotubularin related protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703441	Mtmr2	myotubularin related protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8703441	Mtmr2	myotubularin related protein 2	gene	DOID:630	genetic disease		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12668758|PMID:14530412|PMID:15998640|PMID:17576681|PMID:20410104|PMID:25741868|PMID:26467025|PMID:27697855|PMID:28492532|PMID:31070812|PMID:32376792|PMID:9536098
8703441	Mtmr2	myotubularin related protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8703441	Mtmr2	myotubularin related protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8703468	ERCC6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1323005	D	RGD:9068941	20260730	RGD		DNA:point mutation:promoter::c.-6530C>G (rs3793784) (human)	PMID:17854076|REF_RGD_ID:11561791
8703468	ERCC6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1323005	D	RGD:9068941	20260730	RGD		mRNA:decreased expression:lung (human)	PMID:10910954|REF_RGD_ID:155260338
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0050336	hypophosphatemia		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypophosphatemia	PMID:25741868|PMID:28492532
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0050861	colorectal adenocarcinoma		ISO	RGD:1323005	D	RGD:9068941	20221020	RGD		mRNA:decreased expression:colorectum (human)	PMID:22966016|REF_RGD_ID:155598682
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0060058	lymphoma	susceptibility	ISO	RGD:1622854	D	RGD:9068941	20200609	RGD			PMID:11238917|REF_RGD_ID:11567233
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0060240	UV-sensitive syndrome		ISO	RGD:1323005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26972010
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0080199	colorectal carcinoma	treatment	ISO	RGD:1323005	D	RGD:9068941	20221006	RGD		human cell line in a mouse model	PMID:28665687|REF_RGD_ID:155260341
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0080868	primary ovarian insufficiency 11		ISO	RGD:1323005	D	RGD:7240710	20260729	OMIM			
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0080868	primary ovarian insufficiency 11		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 11 | ClinVar Annotator: match by term: Premature ovarian failure 11	PMID:10447254|PMID:10767341|PMID:14639525|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:26218421|PMID:27004399|PMID:27186691|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:30111349|PMID:32557569|PMID:38177409|PMID:9443879
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0080908	Cockayne syndrome B		ISO	RGD:1323005	D	RGD:7240710	20260729	OMIM			
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0080908	Cockayne syndrome B		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COCKAYNE SYNDROME B | ClinVar Annotator: match by term: Cockayne Syndrome, Type II | ClinVar Annotator: match by term: Cockayne syndrome B | ClinVar Annotator: match by term: Cockayne syndrome, type B	PMID:10196384|PMID:10767341|PMID:14639525|PMID:15486090|PMID:17576681|PMID:18414213|PMID:18628313|PMID:19894250|PMID:20122405|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25251875|PMID:25741868|PMID:25820262|PMID:26206375|PMID:27004399|PMID:28170084|PMID:28440418|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:30111349|PMID:31501894|PMID:32557569|PMID:38177409|PMID:9443879|PMID:9536098
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0080911	cerebrooculofacioskeletal syndrome 1		ISO	RGD:1323005	D	RGD:7240710	20260729	OMIM			
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0080911	cerebrooculofacioskeletal syndrome 1		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 | ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1	PMID:10447254|PMID:10767341|PMID:11809892|PMID:1339317|PMID:14639525|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:22661500|PMID:22904069|PMID:24033266|PMID:25136123|PMID:25326635|PMID:25356239|PMID:25463447|PMID:25741868|PMID:25820262|PMID:26620705|PMID:27004399|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:30111349|PMID:31130284|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:32868804|PMID:33904453|PMID:34005834|PMID:34853308|PMID:35066699|PMID:36099812|PMID:36344539|PMID:38177409|PMID:887325|PMID:9150142|PMID:9443879|PMID:9536098
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1323005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18628313
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0110028	age related macular degeneration 5		ISO	RGD:1323005	D	RGD:7240710	20260729	OMIM			
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0110028	age related macular degeneration 5		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Age related macular degeneration 5	PMID:10447254|PMID:10767341|PMID:14639525|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:30111349|PMID:32557569|PMID:36099812|PMID:38177409|PMID:9443879
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0112158	De Sanctis-Cacchione syndrome		ISO	RGD:1323005	D	RGD:7240710	20260729	OMIM			
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0112158	De Sanctis-Cacchione syndrome		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME	PMID:10447254|PMID:10767341|PMID:14639525|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25326635|PMID:25356239|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:30111349|PMID:32557569|PMID:38177409|PMID:9443879
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1323005	D	RGD:9068941	20221006	RGD		DNA:SNP:enhancer: (rs1917799) (human)	PMID:27340861|REF_RGD_ID:155260339
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1323005	D	RGD:9068941	20221006	RGD		mRNA:increased expression:stomach (human)	PMID:30417012|REF_RGD_ID:155260342
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:10579	leukodystrophy		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:18628313|PMID:25741868|PMID:28440418|PMID:28492532|PMID:29572252
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1059	intellectual disability		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28492532
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:10609	rickets		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rickets	PMID:25741868|PMID:28492532
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:10629	microphthalmia		ISO	RGD:1323005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10739753
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:10907	microcephaly		ISO	RGD:1323005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10739753|PMID:18628313
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:11199	hypoparathyroidism		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoparathyroidism	PMID:25741868|PMID:28492532
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1283	enterocele		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:10767341|PMID:18414213|PMID:18628313|PMID:19894250|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25741868|PMID:25820262|PMID:28492532|PMID:29572252|PMID:30111349|PMID:38177409|PMID:9443879
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1324	lung cancer		ISO	RGD:1323005	D	RGD:7240710	20260729	OMIM			
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1324	lung cancer		ISO	RGD:1323005	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: LUNG CANCER, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	PMID:10767341|PMID:16754848|PMID:17854076|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:38177409|PMID:9443879
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1324	lung cancer		ISO	RGD:1323005	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: LUNG CANCER, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	PMID:10196384|PMID:10447254|PMID:10767341|PMID:11809892|PMID:1339317|PMID:14639525|PMID:16199547|PMID:16754848|PMID:17854076|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:22661500|PMID:22904069|PMID:24033266|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:31130284|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:34052969|PMID:38177409|PMID:887325|PMID:9150142|PMID:9443879
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1324	lung cancer		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LUNG CANCER, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	PMID:10447254|PMID:14639525|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:32557569|PMID:9443879
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1324	lung cancer		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	PMID:10447254|PMID:10767341|PMID:14639525|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:30111349|PMID:32557569|PMID:38177409|PMID:9443879
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:1323005	D	RGD:9068941	20200609	RGD		DNA:SNPs: :p.G399D, p.Q1413R (human)	PMID:17855454|REF_RGD_ID:11567235
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1324	lung cancer	no_association	ISO	RGD:1323005	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:18789574|REF_RGD_ID:11567231
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:13580	cholestasis		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:18628313|PMID:28492532|PMID:9443879
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:14184	polyneuropathy due to drug	treatment	ISO	RGD:1323005	D	RGD:9068941	20221006	RGD		associated with colorectal cancer;DNA:missense mutations:CDS:p.D425A, p.G446D, p.S797C (rs4253046, rs4253047, rs146043988) (human)	PMID:35135151|REF_RGD_ID:155260345
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:14261	fragile X syndrome		ISO	RGD:1622854	D	RGD:9068941	20200609	RGD			PMID:24352881|REF_RGD_ID:10401097
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:18628313|PMID:19894250|PMID:25741868|PMID:28492532|PMID:29572252
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1749	squamous cell carcinoma	severity	ISO	RGD:1622854	D	RGD:9068941	20200609	RGD		associated with Cockayne Syndrome	PMID:9150142|REF_RGD_ID:10401099
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1826	epilepsy		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1311509	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:cerebral cortex	PMID:10437118|REF_RGD_ID:10401104
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:2394	ovarian cancer		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:2596	larynx cancer	susceptibility	ISO	RGD:1323005	D	RGD:9068941	20221006	RGD		DNA:missense mutation:CDS:p.R1230P (human)	PMID:19444904|REF_RGD_ID:155260337
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cockayne syndrome	PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25356239|PMID:25741868|PMID:27356891|PMID:28492532|PMID:29572252|PMID:9443879
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:3275	thymoma		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:3355	fibrosarcoma	susceptibility	ISO	RGD:1622854	D	RGD:9068941	20200609	RGD			PMID:11238917|REF_RGD_ID:11567233
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1311509	D	RGD:9068941	20200609	RGD			PMID:9974119|REF_RGD_ID:10401103
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:3905	lung carcinoma		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung carcinoma	PMID:18414213|PMID:25741868|PMID:28492532
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323005	D	RGD:9068941	20221006	RGD		mRNA, protein:increased expression:lung (human)	PMID:31615563|REF_RGD_ID:155260344
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1323005	D	RGD:9068941	20221006	RGD		DNA:SNP:intron: (rs4253002) (human)	PMID:28924235|REF_RGD_ID:153323316
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1323005	D	RGD:9068941	20221006	RGD		mRNA, protein:increased expression:lung (human)	PMID:31615563|REF_RGD_ID:155260344
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:4362	cervical cancer		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:4448	macular degeneration		ISO	RGD:1323005	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:16754848
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:4448	macular degeneration	onset	ISO	RGD:1323005	D	RGD:9068941	20200609	RGD			PMID:21072178|REF_RGD_ID:10401096
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:19894250|PMID:25741868|PMID:28492532|PMID:29572252
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1323005	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:630	genetic disease		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25356239|PMID:25741868|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:36099812|PMID:9443879
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:7400	Nijmegen breakage syndrome		ISO	RGD:1323005	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies	PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25677497|PMID:25741868|PMID:27356891|PMID:28492532|PMID:29572252
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:784	chronic kidney disease		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868|PMID:28492532
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:83	cataract		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:18628313|PMID:28492532|PMID:9443879
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9000343	Vision Disorders		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:19894250
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1323005	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Corpus callosum agenesis	PMID:18414213|PMID:26076356|PMID:26197979
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:18628313|PMID:25356239|PMID:25741868|PMID:28492532|PMID:29572252
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9002644	Premature Aging		ISO	RGD:1323005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25440059
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9004486	Drug-induced Neutropenia	treatment	ISO	RGD:1323005	D	RGD:9068941	20221006	RGD		associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) (human)	PMID:28924235|REF_RGD_ID:153323316
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9004538	Hearing Loss		ISO	RGD:1323005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25440059
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9004866	Ataxia		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:18628313|PMID:25741868|PMID:28440418|PMID:28492532|PMID:29572252
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:25741868|PMID:28492532
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1323005	D	RGD:9068941	20240125	CTD		CTD Direct Evidence: marker/mechanism	PMID:17854076
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9005172	Lung Neoplasms	susceptibility	ISO	RGD:1323005	D	RGD:9068941	20240118	RGD		DNA:SNPs: :rs3793784, rs12571445 (human)	PMID:18789574|REF_RGD_ID:11567231
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	PMID:10767341|PMID:18414213|PMID:18628313|PMID:19894250|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25741868|PMID:25820262|PMID:28492532|PMID:29572252|PMID:30111349|PMID:38177409|PMID:9443879
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9005616	Micrognathism		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:18628313|PMID:25356239|PMID:25741868|PMID:28492532|PMID:29572252
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9006065	Arthralgia		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:25741868|PMID:28492532
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9006257	Growth Disorders		ISO	RGD:1323005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18628313
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9006274	UV-Sensitive Syndrome 1		ISO	RGD:1323005	D	RGD:7240710	20260729	OMIM			
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9006274	UV-Sensitive Syndrome 1		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: UV-SENSITIVE SYNDROME 1 | ClinVar Annotator: match by term: UV-sensitive syndrome 1	PMID:10447254|PMID:10767341|PMID:14639525|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:30111349|PMID:32557569|PMID:38177409|PMID:9443879
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9006743	Spasm		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:25741868|PMID:28492532
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9007661	Dwarfism		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature | ClinVar Annotator: match by term: Short stature	PMID:10767341|PMID:18414213|PMID:18628313|PMID:19894250|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25356239|PMID:25741868|PMID:25820262|PMID:28440418|PMID:28492532|PMID:29572252|PMID:30111349|PMID:38177409|PMID:9443879
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10767341|PMID:18414213|PMID:18628313|PMID:19894250|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25741868|PMID:25820262|PMID:28492532|PMID:29572252|PMID:30111349|PMID:38177409|PMID:9443879
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9008514	Psychomotor Disorders		ISO	RGD:1323005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18628313
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1323005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18628313
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9009050	Hypocalcemia		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	PMID:25741868|PMID:28492532
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9256	colorectal cancer		ISO	RGD:1323005	D	RGD:9068941	20221006	RGD		DNA:SNP:exon: (rs2228526) (human)	PMID:29151331|REF_RGD_ID:155260348
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9256	colorectal cancer		ISO	RGD:1323005	D	RGD:9068941	20221006	RGD		mRNA:increased expression:colorectum (human)	PMID:16951227|REF_RGD_ID:155260343
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1323005	D	RGD:9068941	20221006	RGD		DNA:missense mutation:CDS:p.R1213G (human)	PMID:17119055|REF_RGD_ID:155260340
8703468	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9993	hypoglycemia		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868|PMID:28492532
8703493	Eps15l1	epidermal growth factor receptor pathway substrate 15 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703493	Eps15l1	epidermal growth factor receptor pathway substrate 15 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8703493	Eps15l1	epidermal growth factor receptor pathway substrate 15 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8703493	Eps15l1	epidermal growth factor receptor pathway substrate 15 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8703493	Eps15l1	epidermal growth factor receptor pathway substrate 15 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8703493	Eps15l1	epidermal growth factor receptor pathway substrate 15 like 1	gene	DOID:1909	melanoma		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8703493	Eps15l1	epidermal growth factor receptor pathway substrate 15 like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8703493	Eps15l1	epidermal growth factor receptor pathway substrate 15 like 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8703493	Eps15l1	epidermal growth factor receptor pathway substrate 15 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703493	Eps15l1	epidermal growth factor receptor pathway substrate 15 like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8703493	Eps15l1	epidermal growth factor receptor pathway substrate 15 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8703493	Eps15l1	epidermal growth factor receptor pathway substrate 15 like 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8703493	Eps15l1	epidermal growth factor receptor pathway substrate 15 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8703493	Eps15l1	epidermal growth factor receptor pathway substrate 15 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8703523	Angel1	angel homolog 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703523	Angel1	angel homolog 1	gene	DOID:1324	lung cancer		ISO	RGD:1314740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8703523	Angel1	angel homolog 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8703523	Angel1	angel homolog 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703523	Angel1	angel homolog 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1314740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8703555	Syf2	SYF2 pre-mRNA splicing factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703555	Syf2	SYF2 pre-mRNA splicing factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8703555	Syf2	SYF2 pre-mRNA splicing factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8703555	Syf2	SYF2 pre-mRNA splicing factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703555	Syf2	SYF2 pre-mRNA splicing factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8703555	Syf2	SYF2 pre-mRNA splicing factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8703555	Syf2	SYF2 pre-mRNA splicing factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8703555	Syf2	SYF2 pre-mRNA splicing factor	gene	DOID:9588	encephalitis		ISO	RGD:621592	D	RGD:9068941	20200609	RGD			PMID:24301298|REF_RGD_ID:10059414
8703567	Armc6	armadillo repeat containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703567	Armc6	armadillo repeat containing 6	gene	DOID:1115	sarcoma		ISO	RGD:1348624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8703567	Armc6	armadillo repeat containing 6	gene	DOID:1324	lung cancer		ISO	RGD:1348624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8703567	Armc6	armadillo repeat containing 6	gene	DOID:1909	melanoma		ISO	RGD:1348624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8703567	Armc6	armadillo repeat containing 6	gene	DOID:3275	thymoma		ISO	RGD:1348624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8703567	Armc6	armadillo repeat containing 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8703567	Armc6	armadillo repeat containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1348624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8703567	Armc6	armadillo repeat containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703567	Armc6	armadillo repeat containing 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8703585	Aftph	aftiphilin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703585	Aftph	aftiphilin	gene	DOID:10534	stomach cancer		ISO	RGD:1606558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8703585	Aftph	aftiphilin	gene	DOID:1115	sarcoma		ISO	RGD:1606558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8703585	Aftph	aftiphilin	gene	DOID:1324	lung cancer		ISO	RGD:1606558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8703585	Aftph	aftiphilin	gene	DOID:3275	thymoma		ISO	RGD:1606558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8703585	Aftph	aftiphilin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8703585	Aftph	aftiphilin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703585	Aftph	aftiphilin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8703585	Aftph	aftiphilin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8703585	Aftph	aftiphilin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8703608	Sox15	SRY-box transcription factor 15	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1323788	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
8703608	Sox15	SRY-box transcription factor 15	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1323788	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8703620	Plin5	perilipin 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2881444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703620	Plin5	perilipin 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:2881444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8703620	Plin5	perilipin 5	gene	DOID:1115	sarcoma		ISO	RGD:2881444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8703620	Plin5	perilipin 5	gene	DOID:4362	cervical cancer		ISO	RGD:2881444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8703620	Plin5	perilipin 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:2881444	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8703620	Plin5	perilipin 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:2881444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8703620	Plin5	perilipin 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2881444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703620	Plin5	perilipin 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2881444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8703642	Hexd	hexosaminidase D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8703642	Hexd	hexosaminidase D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703642	Hexd	hexosaminidase D	gene	DOID:10534	stomach cancer		ISO	RGD:1602417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8703642	Hexd	hexosaminidase D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8703642	Hexd	hexosaminidase D	gene	DOID:1324	lung cancer		ISO	RGD:1602417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8703642	Hexd	hexosaminidase D	gene	DOID:1909	melanoma		ISO	RGD:1602417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8703642	Hexd	hexosaminidase D	gene	DOID:3275	thymoma		ISO	RGD:1602417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8703642	Hexd	hexosaminidase D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703642	Hexd	hexosaminidase D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8703642	Hexd	hexosaminidase D	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8703642	Hexd	hexosaminidase D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8703642	Hexd	hexosaminidase D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8703664	Ckm	creatine kinase, M-type	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703664	Ckm	creatine kinase, M-type	gene	DOID:0051064	left ventricular failure		ISO	RGD:737472	D	RGD:9068941	20200609	RGD			PMID:12039490|REF_RGD_ID:1598441
8703664	Ckm	creatine kinase, M-type	gene	DOID:326	ischemia		ISO	RGD:737472	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21912612
8703664	Ckm	creatine kinase, M-type	gene	DOID:5041	esophageal cancer		ISO	RGD:737472	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8703664	Ckm	creatine kinase, M-type	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703664	Ckm	creatine kinase, M-type	gene	DOID:5844	myocardial infarction		ISO	RGD:737472	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12359538|PMID:3279722
8703664	Ckm	creatine kinase, M-type	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8703664	Ckm	creatine kinase, M-type	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:737472	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15966572
8703664	Ckm	creatine kinase, M-type	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:737472	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
8703664	Ckm	creatine kinase, M-type	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:737472	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11406506
8703664	Ckm	creatine kinase, M-type	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:737472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8703676	Hcfc2	host cell factor C2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8703676	Hcfc2	host cell factor C2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703676	Hcfc2	host cell factor C2	gene	DOID:10534	stomach cancer		ISO	RGD:1316555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8703676	Hcfc2	host cell factor C2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8703676	Hcfc2	host cell factor C2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316555	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8703676	Hcfc2	host cell factor C2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8703676	Hcfc2	host cell factor C2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8703676	Hcfc2	host cell factor C2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8703676	Hcfc2	host cell factor C2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0002116	pterygium		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pterygium	PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:17339163|PMID:19020799|PMID:19077116|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29493581|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0014667	disease of metabolism		ISO	RGD:731747	D	RGD:9068941	20220825	MouseDO			
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:731746	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy	PMID:25741868|PMID:28492532
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0050432	Asperger syndrome		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asperger syndrome	PMID:25741868
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:731746	D	RGD:7240710	20180130	OMIM			
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CBL-related disorder | ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia	PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12960218|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14982869|PMID:14991917|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16115145|PMID:16124853|PMID:16172598|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16377799|PMID:16498234|PMID:16518851|PMID:16638574|PMID:16643459|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16990350|PMID:17020470|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17497712|PMID:17546245|PMID:17576681|PMID:17661820|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17942397|PMID:17972951|PMID:18080325|PMID:18286234|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18454468|PMID:18470943|PMID:18559669|PMID:18678287|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19260062|PMID:19352411|PMID:19568997|PMID:19621452|PMID:19681119|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19798502|PMID:19825837|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20301772|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20718194|PMID:20883402|PMID:20954246|PMID:21204800|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21590266|PMID:21747628|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22142829|PMID:22190897|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22923420|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23813970|PMID:23817572|PMID:23832011|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24183200|PMID:24219368|PMID:24338706|PMID:24401936|PMID:24436047|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:2482075|PMID:24820750|PMID:24891296|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25595571|PMID:25612910|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25914815|PMID:25917897|PMID:26084119|PMID:26138366|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26377839|PMID:26424407|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26633542|PMID:26783207|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27659786|PMID:27876779|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28098151|PMID:28328117|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28912153|PMID:28966033|PMID:29146883|PMID:29212898|PMID:29276006|PMID:29300386|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29758562|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30311386|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30896080|PMID:31040167|PMID:31219622|PMID:31263281|PMID:31324109|PMID:31446693|PMID:31560489|PMID:31722741|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32561839
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CBL-related disorder | ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia	PMID:32565546|PMID:32627857|PMID:32719394|PMID:32737134|PMID:32794475|PMID:32901917|PMID:33258288|PMID:33300679|PMID:33318624|PMID:33568805|PMID:33794220|PMID:33811550|PMID:34006472|PMID:34008892|PMID:34143244|PMID:34166060|PMID:34308104|PMID:34358384|PMID:34782754|PMID:34850017|PMID:34988410|PMID:35101336|PMID:35396703|PMID:35697228|PMID:36304179|PMID:36349709|PMID:36496429|PMID:38374194|PMID:38540404|PMID:38572385|PMID:39202410|PMID:39392019|PMID:39596579|PMID:9491886|PMID:9536098|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0050469	Costello syndrome		ISO	RGD:731746	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17703371
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0050581	brachydactyly		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:16358218|PMID:18470943|PMID:18678287|PMID:18758896|PMID:21407260|PMID:21533187|PMID:22465605|PMID:23334668|PMID:23513489|PMID:23756559|PMID:24033266|PMID:24754368|PMID:24935154|PMID:25533962|PMID:25741868|PMID:28492532|PMID:28628100|PMID:29493581|PMID:32164556|PMID:9491886
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Atrioventricular canal defect	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15240615|PMID:15834506|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16498234|PMID:17020470|PMID:17497712|PMID:18470943|PMID:19020799|PMID:19077116|PMID:19621452|PMID:20112233|PMID:20301303|PMID:21106241|PMID:21407260|PMID:21533187|PMID:21784453|PMID:21901340|PMID:22420426|PMID:22465605|PMID:22681964|PMID:22711529|PMID:23321623|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25253770|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27030275|PMID:27038324|PMID:27104176|PMID:27521173|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:30732632|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32668031|PMID:32901917|PMID:34008892|PMID:34303558
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0050700	cardiomyopathy		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15001945|PMID:15009076|PMID:15240615|PMID:15385933|PMID:15539800|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15928039|PMID:15948193|PMID:15987685|PMID:16115145|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17910045|PMID:17972951|PMID:18331608|PMID:18454468|PMID:18759865|PMID:19063751|PMID:19077116|PMID:20237506|PMID:20383758|PMID:20852937|PMID:21340158|PMID:21407260|PMID:22465605|PMID:22959829|PMID:23446178|PMID:23832011|PMID:23917401|PMID:24033266|PMID:24718990|PMID:25097206|PMID:25741868|PMID:26286251|PMID:26817465|PMID:28492532|PMID:28748642|PMID:28921562|PMID:28991257|PMID:29057136|PMID:29493581|PMID:31560489|PMID:31573083|PMID:33318624|PMID:34006472
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0050700	cardiomyopathy		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15385933|PMID:15389709|PMID:15520399|PMID:15539800|PMID:15690106|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15987685|PMID:16115145|PMID:16358218|PMID:16377799|PMID:16733669|PMID:16804314|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17453145|PMID:17546245|PMID:17910045|PMID:17972951|PMID:18241070|PMID:18331608|PMID:18454468|PMID:18505544|PMID:18678287|PMID:18759865|PMID:19020799|PMID:19063751|PMID:19077116|PMID:19273734|PMID:19582499|PMID:20237506|PMID:20301557|PMID:20383758|PMID:2057894|PMID:20852937|PMID:20954246|PMID:21407260|PMID:21677813|PMID:21803945|PMID:21910226|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22465605|PMID:22781091|PMID:22923420|PMID:22959829|PMID:23446178|PMID:23673659|PMID:23832011|PMID:23917401|PMID:24033266|PMID:24718990|PMID:24803665|PMID:24935154|PMID:25097206|PMID:25359717|PMID:25500235|PMID:25612910|PMID:25708222|PMID:25724491|PMID:25741868|PMID:25937001|PMID:26286251|PMID:26742426|PMID:26817465|PMID:27153395|PMID:28051113|PMID:28492532|PMID:28748642|PMID:28973083|PMID:29263817|PMID:29493581|PMID:29602897|PMID:30105547|PMID:30732632|PMID:30896080|PMID:31259454|PMID:31560489|PMID:31573083|PMID:32164556|PMID:3274644|PMID:32746448|PMID:33318624|PMID:34006472|PMID:35050212|PMID:35325944|PMID:38540404
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0050868	hepatocellular adenoma		ISO	RGD:731747	D	RGD:9068941	20220825	MouseDO			
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	PMID:11992261|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14982869|PMID:15001945|PMID:15385933|PMID:15710330|PMID:15712196|PMID:15985475|PMID:15987685|PMID:16358218|PMID:16804314|PMID:16990350|PMID:17020470|PMID:1733916|PMID:17339163|PMID:17972951|PMID:18286234|PMID:18470943|PMID:19047918|PMID:19077116|PMID:19179468|PMID:19835954|PMID:20186801|PMID:21204800|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22781091|PMID:23624134|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25741868|PMID:25862627|PMID:27276561|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:31292302|PMID:32164556|PMID:32561839|PMID:32737134
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:731746	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0060058	lymphoma		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0060233	cardiofaciocutaneous syndrome		ISO	RGD:731746	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome	PMID:25741868|PMID:28492532
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0060249	scoliosis		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:11992261|PMID:15121796|PMID:16523510|PMID:17339163|PMID:17875892|PMID:18241070|PMID:18505544|PMID:19737548|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24451042|PMID:24935154|PMID:25741868|PMID:28492532|PMID:29696744|PMID:33726816|PMID:33776629|PMID:34136434|PMID:40127276
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0060250	idiopathic scoliosis		ISO	RGD:731747	D	RGD:9068941	20220825	MouseDO			
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0060260	ptosis		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15604238|PMID:15723289|PMID:15761018|PMID:15834506|PMID:15928039|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16498234|PMID:16804314|PMID:17020470|PMID:17339163|PMID:17497712|PMID:17661820|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19621452|PMID:20301303|PMID:20718194|PMID:21340158|PMID:21407260|PMID:21533187|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22711529|PMID:22781091|PMID:23624134|PMID:23726368|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25533962|PMID:25595571|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:26822237|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29555671|PMID:29696744|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:33726816|PMID:34008892|PMID:34136434|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579|PMID:40127276
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:731746	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:32417439
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0060578	Noonan syndrome 1		ISO	RGD:731746	D	RGD:7240710	20180130	OMIM			
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0060578	Noonan syndrome 1		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Noonan syndrome 1 | ClinVar Annotator: match by term: Noonan syndrome type 1	PMID:000037664|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12960218|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14982869|PMID:14991917|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16115145|PMID:16124853|PMID:16172598|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16377799|PMID:16467864|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16638574|PMID:16643459|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16892325|PMID:16990350|PMID:17020470|PMID:17053061|PMID:17222357|PMID:17227708|PMID:1733916|PMID:17339163|PMID:17453145|PMID:17497712|PMID:17546245|PMID:17576681|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18223690|PMID:18241070|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19506109|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19659470|PMID:19681119|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20301772|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:2057894|PMID:20578946|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20954246|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21396583|PMID:21407260|PMID:21465649|PMID:21533187|PMID:21590266|PMID:21677813|PMID:21680795|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22142829|PMID:22190897|PMID:22253195|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22923420|PMID:22959829|PMID:23317994|PMID:23321623|PMID:23334666|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23817572|PMID:23832011|PMID:23917401|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24436047|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:2482075|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25253770|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25708222|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26121087|PMID:26138366|PMID:26206283|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26377839|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26633542|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0060578	Noonan syndrome 1		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Noonan syndrome 1 | ClinVar Annotator: match by term: Noonan syndrome type 1	PMID:27659786|PMID:27683039|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28328117|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28912153|PMID:28966033|PMID:28973083|PMID:28991257|PMID:29146883|PMID:29212898|PMID:29263817|PMID:29276006|PMID:29300386|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29568093|PMID:29602897|PMID:29758562|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30097824|PMID:30105547|PMID:30311386|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30523111|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30896080|PMID:31040167|PMID:31164752|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31292302|PMID:31324109|PMID:31446693|PMID:31560489|PMID:31573083|PMID:31722741|PMID:31802236|PMID:31827275|PMID:31941532|PMID:32164556|PMID:32164789|PMID:32188694|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32565546|PMID:32573669|PMID:32668031|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32794475|PMID:32806529|PMID:32901917|PMID:33056981|PMID:33258288|PMID:33300679|PMID:33318624|PMID:33568805|PMID:33619735|PMID:33726816|PMID:33776629|PMID:33811550|PMID:33850299|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34166060|PMID:34303558|PMID:34308104|PMID:34346503|PMID:34358384|PMID:34782754|PMID:34850017|PMID:34988410|PMID:35050212|PMID:35101336|PMID:35325944|PMID:35396703|PMID:35441720|PMID:35697228|PMID:35769956|PMID:35858754|PMID:35885957|PMID:35979676|PMID:36304179|PMID:36349709|PMID:36496429|PMID:36544606|PMID:36714562|PMID:36973454|PMID:37600658|PMID:38374194|PMID:38540404|PMID:38862387|PMID:39392019|PMID:39434542|PMID:39596579|PMID:40036726|PMID:40127276|PMID:9491886|PMID:9536098|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0060581	Noonan syndrome 3		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Noonan syndrome 3	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15248152|PMID:15385933|PMID:15520399|PMID:15689434|PMID:15690106|PMID:15723289|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16467864|PMID:16498234|PMID:16638574|PMID:16733669|PMID:16804314|PMID:17020470|PMID:17339163|PMID:17497712|PMID:17661820|PMID:18241070|PMID:18286234|PMID:18470943|PMID:18505544|PMID:18678287|PMID:18759865|PMID:18854871|PMID:19020799|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19273734|PMID:19582499|PMID:19621452|PMID:19737548|PMID:20112233|PMID:20301303|PMID:20301557|PMID:20308328|PMID:2057894|PMID:20578946|PMID:20718194|PMID:20954246|PMID:21106241|PMID:21204800|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21677813|PMID:21680795|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22681964|PMID:22711529|PMID:22781091|PMID:23321623|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24803665|PMID:24821303|PMID:24931631|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25253770|PMID:25337068|PMID:25359717|PMID:25595571|PMID:25708222|PMID:25724491|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25914815|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26633542|PMID:26742426|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27104176|PMID:27193571|PMID:27521173|PMID:27683039|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28911804|PMID:28912153|PMID:28973083|PMID:29212898|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:30732632|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32565546|PMID:32901917|PMID:33300679|PMID:33811550|PMID:34008892|PMID:34782754|PMID:34850017|PMID:34988410|PMID:35050212|PMID:35101336|PMID:35769956|PMID:35979676|PMID:36304179|PMID:36544606|PMID:38540404|PMID:39596579|PMID:9491886
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:15520399|PMID:15690106|PMID:15889278|PMID:15948193|PMID:16358218|PMID:16638574|PMID:20308328|PMID:20578946|PMID:21677813|PMID:21910226|PMID:22058153|PMID:22488759|PMID:24033266|PMID:25708222|PMID:25741868|PMID:27193571|PMID:28492532
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080010	bone structure disease		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of bone mineral density	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080548	Noonan syndrome with multiple lentigines 1		ISO	RGD:731746	D	RGD:7240710	20190320	OMIM			
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080548	Noonan syndrome with multiple lentigines 1		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LEOPARD syndrome 1	PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12960218|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14982869|PMID:14991917|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16115145|PMID:16124853|PMID:16172598|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16377799|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16638574|PMID:16643459|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16892325|PMID:16990350|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17453145|PMID:17497712|PMID:17546245|PMID:17576681|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18286234|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19659470|PMID:19681119|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19825837|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20301772|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:2057894|PMID:20578946|PMID:20718194|PMID:20883402|PMID:20954246|PMID:21106241|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21396583|PMID:21407260|PMID:21533187|PMID:21590266|PMID:21677813|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22142829|PMID:22190897|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22923420|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23817572|PMID:23832011|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24436047|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:2482075|PMID:24820750|PMID:24891296|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25263441|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25381062|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25708222|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26138366|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26377839|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26633542|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27659786|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28328117|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28912153|PMID:28966033|PMID:28973083|PMID:28991257|PMID:29146883|PMID:29212898|PMID:29263817|PMID:29276006|PMID:29300386|PMID:29346770|PMID:29493581|PMID:29555671
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080548	Noonan syndrome with multiple lentigines 1		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LEOPARD syndrome 1	PMID:29602897|PMID:29758562|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30105547|PMID:30311386|PMID:30375388|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30896080|PMID:31040167|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31446693|PMID:31560489|PMID:31722741|PMID:31827275|PMID:31941532|PMID:32154134|PMID:32164556|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32565546|PMID:32573669|PMID:32668031|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32901917|PMID:33258288|PMID:33300679|PMID:33318624|PMID:33568805|PMID:33776629|PMID:33811550|PMID:34006472|PMID:34008892|PMID:34143244|PMID:34166060|PMID:34303558|PMID:34308104|PMID:34346503|PMID:34358384|PMID:34782754|PMID:34850017|PMID:34988410|PMID:35050212|PMID:35101336|PMID:35325944|PMID:35396703|PMID:35587316|PMID:35697228|PMID:35858754|PMID:35885957|PMID:36304179|PMID:36349709|PMID:36496429|PMID:36647814|PMID:38374194|PMID:38540404|PMID:39392019|PMID:39596579|PMID:40818059|PMID:9491886|PMID:9536098|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27M-mutant	PMID:11992261|PMID:12325025|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15710330|PMID:15834506|PMID:15928039|PMID:15987685|PMID:16115145|PMID:16358218|PMID:16377799|PMID:16518851|PMID:16892325|PMID:16990350|PMID:17020470|PMID:17661820|PMID:17910045|PMID:17972951|PMID:18372317|PMID:18470943|PMID:19020799|PMID:19047918|PMID:19659470|PMID:19681119|PMID:20301557|PMID:20493809|PMID:21533187|PMID:21590266|PMID:21784453|PMID:22142829|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23321623|PMID:23584145|PMID:23799168|PMID:23832011|PMID:24033266|PMID:24436047|PMID:24718990|PMID:24790373|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25425531|PMID:25741868|PMID:25862627|PMID:26138366|PMID:26242988|PMID:26918529|PMID:27030275|PMID:27069254|PMID:27276561|PMID:27521173|PMID:27993330|PMID:28084675|PMID:28483241|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29300386|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30050098|PMID:30417923|PMID:31560489|PMID:31941532|PMID:32164556|PMID:32573669|PMID:34166060|PMID:35441720|PMID:35697228|PMID:35885957|PMID:36304179|PMID:37445722
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies	PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15521065|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25500235
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies	PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28166811|PMID:28363362|PMID:28366775|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29907801|PMID:29988639|PMID:30266093|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30577886|PMID:30604644|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31560489|PMID:31573083|PMID:31827275|PMID:32164556|PMID:32165824|PMID:32581362|PMID:32627857|PMID:32860008|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28166811|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34006472|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23757202|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25500235|PMID:25533962|PMID:25544017
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:25585602|PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28166811|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34006472|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23757202|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28166811|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32794475|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34006472|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15521065|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17301821|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28366775|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33568805|PMID:33619735|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15521065|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17301821|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334666|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26223499|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28366775|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26206283|PMID:26223499|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26783207|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28366775|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34782754|PMID:35904599|PMID:36349709|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:1635821|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16533526|PMID:16557282|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17301821|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17942397|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18559669|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19798502|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334666|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25741909|PMID:25741913|PMID:25741915|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26206283|PMID:26223499|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26783207|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29057136|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29437595|PMID:29493581|PMID:29517769|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31370276|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32112654|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32786180|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:33726816|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34358384|PMID:34589056|PMID:34782754|PMID:35418823|PMID:35616356|PMID:35885957|PMID:35904599|PMID:35979676|PMID:36349709|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26206283|PMID:26223499|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26633542|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26783207|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29057136|PMID:29084544|PMID:29146883|PMID:29155585|PMID:29212898|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29356064|PMID:29437595|PMID:29493581|PMID:29517769|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29620724|PMID:29693080|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30029678|PMID:30050098|PMID:30055033|PMID:30105547|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31370276|PMID:31560489|PMID:31564432|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32112654|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32786180|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:33726816|PMID:33811550|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34194850|PMID:34356170|PMID:34358384|PMID:34411415|PMID:34589056|PMID:34782754|PMID:35248088|PMID:35418823|PMID:35616356|PMID:35885957|PMID:35904599|PMID:35979676|PMID:36349709|PMID:36567979|PMID:37019085|PMID:37568403|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:1635821|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16533526|PMID:16557282|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17301821|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17942397|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18559669|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19798502|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21396583|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21677813|PMID:21680795|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334666|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26206283|PMID:26223499|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26633542|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26783207|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29057136|PMID:29084544|PMID:29146883|PMID:29212898|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29356064|PMID:29437595|PMID:29493581|PMID:29517769|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29620724|PMID:29693080|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30029678|PMID:30050098|PMID:30055033|PMID:30105547|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31164752|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31370276|PMID:31560489|PMID:31562133|PMID:31564432|PMID:31573083|PMID:31637070|PMID:31827275|PMID:31941532|PMID:32059087|PMID:32112654|PMID:32164556|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32786180|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:33726816|PMID:33811550|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34194850|PMID:34356170|PMID:34358384|PMID:34411415|PMID:34589056|PMID:34782754|PMID:35248088|PMID:35418823|PMID:35616356|PMID:35858754|PMID:35885957|PMID:35904599|PMID:35979676|PMID:36135330|PMID:36349709|PMID:36474027|PMID:36496429|PMID:36567979|PMID:37019085|PMID:37568403|PMID:39033378|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26206283|PMID:26223499|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26633542|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26783207|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28191889|PMID:28363362|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29057136|PMID:29084544|PMID:29146883|PMID:29212898|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29356064|PMID:29437595|PMID:29493581|PMID:29517769|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29620724|PMID:29693080|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30029678|PMID:30050098|PMID:30055033|PMID:30105547|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31164752|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31370276|PMID:31560489|PMID:31562133|PMID:31564432|PMID:31573083|PMID:31637070|PMID:31827275|PMID:31941532|PMID:32059087|PMID:32112654|PMID:32164556|PMID:32165824|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32786180|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:33726816|PMID:33811550|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34194850|PMID:34356170|PMID:34358384|PMID:34411415|PMID:34589056|PMID:34782754|PMID:34974531|PMID:35248088|PMID:35418823|PMID:35616356|PMID:35858754|PMID:35885957|PMID:35904599|PMID:35979676|PMID:36135330|PMID:36349709|PMID:36474027|PMID:36496429|PMID:36567979|PMID:36939041|PMID:37019085|PMID:37493574|PMID:37525886|PMID:37568403|PMID:37605180|PMID:37987971|PMID:39033378|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:14991917|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16172598|PMID:16199547|PMID:16263833|PMID:16338218|PMID:1635821|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16533526|PMID:16557282|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17301821|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17942397|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18559669|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19798502|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21396583|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21677813|PMID:21680795|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334666|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25253770|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26206283|PMID:26223499|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26377839|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26633542|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26783207|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27168466|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28191889|PMID:28363362|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29057136|PMID:29084544|PMID:29146883|PMID:29212898|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29356064|PMID:29437595|PMID:29493581|PMID:29517769|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29620724|PMID:29625052|PMID:29693080|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30029678|PMID:30050098|PMID:30055033|PMID:30105547|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31057598|PMID:31064749|PMID:31164752|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31292302|PMID:31324109|PMID:31370276|PMID:31446693|PMID:31560489|PMID:31562133|PMID:31564432|PMID:31573083|PMID:31637070|PMID:31722741|PMID:31827275|PMID:31941532|PMID:32059087|PMID:32112654|PMID:32164556|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32786180|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33042901|PMID:33057194|PMID:33091040|PMID:33128510|PMID:33167018|PMID:33258288|PMID:33300679|PMID:33318624|PMID:33568805|PMID:33619735|PMID:33726816|PMID:33811550|PMID:33850299|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34194850|PMID:34308104|PMID:34356170|PMID:34358384|PMID:34411415|PMID:34589056|PMID:34782754|PMID:34918830|PMID:34974531|PMID:35248088|PMID:35418823|PMID:35574990|PMID:35616356|PMID:35769956|PMID:35858754|PMID:35885957|PMID:35904599|PMID:35979676|PMID:35982159|PMID:36135330|PMID:36304179|PMID:36349709|PMID:36474027|PMID:36496429|PMID:36567979|PMID:36939041|PMID:37019085|PMID:37216690|PMID:37493574|PMID:37525886|PMID:37568403|PMID:37605180|PMID:37923938|PMID:37987971|PMID:38318288|PMID:38413718|PMID:38540404|PMID:39033378|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies	PMID:000037664|PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12900909|PMID:12960218|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14982869|PMID:14991917|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15521065|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16172598|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16377799|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16533526|PMID:16638574|PMID:16643459|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16990350|PMID:17020470|PMID:17053061|PMID:17177198|PMID:17222357|PMID:17227708|PMID:1733916|PMID:17339163|PMID:17453145|PMID:17497712|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17942397|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18559669|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19506109|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19659470|PMID:19681119|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19798502|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20301772|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20954246|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21396583|PMID:21407260|PMID:21482541|PMID:21533187|PMID:21590266|PMID:21677813|PMID:21680795|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22131879|PMID:22142829|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23817572|PMID:23832011|PMID:23917401|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24338706|PMID:24401936|PMID:24436047|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:2482075|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25253770|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25708222|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0080690	RASopathy		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies	PMID:25884655|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26138366|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26377839|PMID:26424407|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26633542|PMID:26742426|PMID:26783207|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28287082|PMID:28328117|PMID:28366775|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28819267|PMID:28911804|PMID:28912153|PMID:28966033|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29146883|PMID:29212898|PMID:29263817|PMID:29276006|PMID:29300386|PMID:29346770|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29696744|PMID:29758562|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30105547|PMID:30266093|PMID:30311386|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31292302|PMID:31324109|PMID:31370276|PMID:31446693|PMID:31560489|PMID:31573083|PMID:31722741|PMID:31827275|PMID:31941532|PMID:32112654|PMID:32164556|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32565546|PMID:32573669|PMID:32627857|PMID:32668031|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32794475|PMID:32901917|PMID:33249554|PMID:33258288|PMID:33300679|PMID:33318624|PMID:33568805|PMID:33619735|PMID:33726816|PMID:33776629|PMID:33794220|PMID:33811550|PMID:33898683|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34166060|PMID:34303558|PMID:34308104|PMID:34346503|PMID:34358384|PMID:34411415|PMID:34589056|PMID:34643321|PMID:34704406|PMID:34782754|PMID:34850017|PMID:34918830|PMID:34988410|PMID:35050212|PMID:35101336|PMID:35248088|PMID:35278234|PMID:35325944|PMID:35396703|PMID:35441720|PMID:35616356|PMID:35697228|PMID:35769956|PMID:35858754|PMID:35885957|PMID:35979676|PMID:36304179|PMID:36349709|PMID:36496429|PMID:36544606|PMID:36760995|PMID:37302266|PMID:37600658|PMID:38374194|PMID:38515811|PMID:38540404|PMID:38572385|PMID:38862387|PMID:39202410|PMID:39392019|PMID:39484914|PMID:39596579|PMID:40127276|PMID:9491886|PMID:9536098|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0110106	atrial heart septal defect 1		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ASD II	PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:17339163|PMID:19020799|PMID:19077116|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29493581|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:731746	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:14644997|PMID:14961557|PMID:15121796|PMID:15723289|PMID:15928039|PMID:15987685|PMID:16358218|PMID:18470943|PMID:20301557|PMID:20954246|PMID:22528600|PMID:24033266|PMID:24628801|PMID:24935154|PMID:25741868|PMID:25937001|PMID:26742426|PMID:28492532|PMID:31219622|PMID:32164556
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0111512	metachondromatosis		ISO	RGD:731746	D	RGD:7240710	20180130	OMIM			
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0111512	metachondromatosis		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: METACHONDROMATOSIS | ClinVar Annotator: match by term: Metachondromatosis	PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12960218|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14982869|PMID:14991917|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16115145|PMID:16124853|PMID:16172598|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16377799|PMID:16498234|PMID:16518851|PMID:16638574|PMID:16643459|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16892325|PMID:16990350|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17497712|PMID:17546245|PMID:17576681|PMID:17661820|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18286234|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18454468|PMID:18470943|PMID:18678287|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19260062|PMID:19352411|PMID:19568997|PMID:19621452|PMID:19681119|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19825837|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20301772|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:20718194|PMID:20883402|PMID:20954246|PMID:21106241|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21396583|PMID:21407260|PMID:21533187|PMID:21590266|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22142829|PMID:22190897|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22923420|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23813970|PMID:23817572|PMID:23832011|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24436047|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:2482075|PMID:24820750|PMID:24891296|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326637|PMID:25337068|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25595571|PMID:25612910|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25914815|PMID:25917897|PMID:26084119|PMID:26138366|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26377839|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26633542|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27659786|PMID:27876779|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28328117|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28912153|PMID:28966033|PMID:28991257|PMID:29146883|PMID:29212898|PMID:29276006|PMID:29300386|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29758562|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30544257|PMID:30577886|PMID:30602027|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30896080|PMID:31040167|PMID:31219622|PMID:31263281|PMID:31324109|PMID:31446693|PMID:31560489|PMID:31722741|PMID:31827275|PMID:31941532|PMID:32164556|PMID:32233106|PMID:32368696
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0111512	metachondromatosis		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: METACHONDROMATOSIS | ClinVar Annotator: match by term: Metachondromatosis	PMID:32371413|PMID:32565546|PMID:32668031|PMID:32719394|PMID:32737134|PMID:32901917|PMID:33258288|PMID:33300679|PMID:33318624|PMID:33568805|PMID:33811550|PMID:34006472|PMID:34008892|PMID:34143244|PMID:34166060|PMID:34303558|PMID:34308104|PMID:34346503|PMID:34358384|PMID:34782754|PMID:34850017|PMID:34988410|PMID:35101336|PMID:35396703|PMID:35697228|PMID:35858754|PMID:36304179|PMID:36349709|PMID:36496429|PMID:38374194|PMID:38540404|PMID:39392019|PMID:39596579|PMID:9491886|PMID:9536098|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0111683	neurofibromatosis-Noonan syndrome		ISO	RGD:731746	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome	PMID:22465605|PMID:28074573|PMID:28492532
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:11992261|PMID:12634870|PMID:15001945|PMID:15956085|PMID:16358218|PMID:16804314|PMID:18678287|PMID:19077116|PMID:19125092|PMID:19260062|PMID:20030748|PMID:20301303|PMID:21204800|PMID:21533187|PMID:21590266|PMID:22465605|PMID:22551697|PMID:24033266|PMID:24935154|PMID:25741868|PMID:26918529|PMID:28492532|PMID:29493581|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:10175	optic papillitis		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Optic papillitis	PMID:11704759|PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15248152|PMID:15723289|PMID:15761018|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17661820|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:20718194|PMID:21340158|PMID:21533187|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23726368|PMID:24033266|PMID:24451042|PMID:24628801|PMID:24935154|PMID:25595571|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26817465|PMID:26822237|PMID:28492532|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:10376	amblyopia		ISO	RGD:731746	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:11992261|PMID:12717436|PMID:15689434|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17339163|PMID:18470943|PMID:18678287|PMID:18854871|PMID:19120036|PMID:20301303|PMID:23771920|PMID:24033266|PMID:24183200|PMID:25741868|PMID:26918529|PMID:27521173|PMID:28492532|PMID:30417923|PMID:31560489|PMID:32164556|PMID:32565546|PMID:33300679|PMID:36304179
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:10534	stomach cancer		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1059	intellectual disability		ISO	RGD:731746	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:24033266|PMID:24451042|PMID:24935154|PMID:25741868|PMID:28492532
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1059	intellectual disability		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14676626|PMID:15001945|PMID:15009076|PMID:15240615|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15690106|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15956085|PMID:15987685|PMID:16115145|PMID:16358218|PMID:16377799|PMID:16518851|PMID:16804314|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17910045|PMID:17972951|PMID:18331608|PMID:18454468|PMID:18470943|PMID:18678287|PMID:18758896|PMID:19063751|PMID:19077116|PMID:19125092|PMID:19260062|PMID:19582499|PMID:19681119|PMID:20030748|PMID:20237506|PMID:20301303|PMID:20383758|PMID:21204800|PMID:21407260|PMID:21533187|PMID:21590266|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22142829|PMID:22465605|PMID:22551697|PMID:23312806|PMID:23334668|PMID:23446178|PMID:23513489|PMID:23756559|PMID:23832011|PMID:24033266|PMID:24150203|PMID:24436047|PMID:24451042|PMID:24718990|PMID:24754368|PMID:24775816|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25741868|PMID:26138366|PMID:26286251|PMID:26785492|PMID:26817465|PMID:26833328|PMID:26918529|PMID:27993330|PMID:28125078|PMID:28492532|PMID:28628100|PMID:29493581|PMID:29703613|PMID:29907801|PMID:30311386|PMID:30732632|PMID:30919686|PMID:31560489|PMID:32164556|PMID:33318624|PMID:34136434|PMID:34166060|PMID:35248088|PMID:35979676|PMID:9491886|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1059	intellectual disability		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Severe intellectual disability	PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15001945|PMID:15009076|PMID:15240615|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15690106|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15956085|PMID:15987685|PMID:16115145|PMID:16358218|PMID:16377799|PMID:16518851|PMID:16804314|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17910045|PMID:17972951|PMID:18331608|PMID:18454468|PMID:18678287|PMID:19063751|PMID:19077116|PMID:19125092|PMID:19260062|PMID:19582499|PMID:19681119|PMID:20030748|PMID:20237506|PMID:20301303|PMID:20383758|PMID:21204800|PMID:21533187|PMID:21590266|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22142829|PMID:22465605|PMID:22551697|PMID:23312806|PMID:23446178|PMID:23832011|PMID:24033266|PMID:24150203|PMID:24436047|PMID:24451042|PMID:24718990|PMID:24775816|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25741868|PMID:26138366|PMID:26286251|PMID:26817465|PMID:26833328|PMID:26918529|PMID:27993330|PMID:28125078|PMID:28492532|PMID:29493581|PMID:30311386|PMID:30732632|PMID:30919686|PMID:31560489|PMID:32164556|PMID:33318624|PMID:33726816|PMID:34136434|PMID:34166060|PMID:34704406|PMID:35248088|PMID:35979676|PMID:37302266|PMID:38515811|PMID:40127276|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1059	intellectual disability		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14676626|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15385933|PMID:15539800|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15928039|PMID:15948193|PMID:15956085|PMID:15987685|PMID:16115145|PMID:16358218|PMID:16377799|PMID:16523510|PMID:16804314|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17875892|PMID:17910045|PMID:17972951|PMID:18241070|PMID:18331608|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18678287|PMID:18758896|PMID:19063751|PMID:19077116|PMID:19125092|PMID:19260062|PMID:19737548|PMID:20030748|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20383758|PMID:21204800|PMID:21407260|PMID:21533187|PMID:21590266|PMID:22465605|PMID:22551697|PMID:23334668|PMID:23446178|PMID:23513489|PMID:23756559|PMID:23832011|PMID:24033266|PMID:24451042|PMID:24718990|PMID:24754368|PMID:24935154|PMID:25097206|PMID:25533962|PMID:25741868|PMID:26286251|PMID:26833328|PMID:26918529|PMID:28492532|PMID:28628100|PMID:29493581|PMID:32164556|PMID:33726816|PMID:33776629|PMID:34136434|PMID:40127276|PMID:9491886|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1074	kidney failure		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:10907	microcephaly		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15689434|PMID:15928039|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17339163|PMID:18470943|PMID:18678287|PMID:18758896|PMID:18854871|PMID:19077116|PMID:19120036|PMID:19568997|PMID:19737548|PMID:20186801|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22681964|PMID:23334668|PMID:23513489|PMID:23756559|PMID:23771920|PMID:24033266|PMID:24183200|PMID:24451042|PMID:24754368|PMID:24935154|PMID:25097206|PMID:25533962|PMID:25741868|PMID:25742478|PMID:26785492|PMID:26918529|PMID:27521173|PMID:28492532|PMID:28628100|PMID:29146883|PMID:29493581|PMID:29907801|PMID:30417923|PMID:31560489|PMID:32164556|PMID:32565546|PMID:33300679|PMID:34008892|PMID:34308104|PMID:36304179|PMID:9491886
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:10908	hydrocephalus		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Aqueductal stenosis	PMID:18759865|PMID:21934682|PMID:22923420|PMID:24033266|PMID:24803665|PMID:25500235|PMID:25612910|PMID:25741868|PMID:27153395|PMID:28051113|PMID:28492532
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:16358218|PMID:18470943|PMID:18678287|PMID:18758896|PMID:21407260|PMID:21533187|PMID:22465605|PMID:23334668|PMID:23513489|PMID:23756559|PMID:24033266|PMID:24754368|PMID:24935154|PMID:25533962|PMID:25741868|PMID:28492532|PMID:28628100|PMID:29493581|PMID:32164556|PMID:9491886
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:10965	spastic diplegia		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:11704759|PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15248152|PMID:15723289|PMID:15761018|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17661820|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:20718194|PMID:21340158|PMID:21533187|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23726368|PMID:24033266|PMID:24451042|PMID:24628801|PMID:24935154|PMID:25595571|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26817465|PMID:26822237|PMID:28492532|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:11111	hydronephrosis		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:11704759|PMID:11992261|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15710330|PMID:15834506|PMID:15987685|PMID:16358218|PMID:16377799|PMID:16518851|PMID:16892325|PMID:16990350|PMID:17020470|PMID:1733916|PMID:17339163|PMID:17661820|PMID:17972951|PMID:18286234|PMID:18372317|PMID:18470943|PMID:19047918|PMID:19077116|PMID:19179468|PMID:19659470|PMID:19681119|PMID:19835954|PMID:20301557|PMID:20493809|PMID:20852937|PMID:21204800|PMID:21407260|PMID:21533187|PMID:21590266|PMID:21784453|PMID:22142829|PMID:22190897|PMID:22465605|PMID:22781091|PMID:22959829|PMID:23321623|PMID:23584145|PMID:23799168|PMID:23917401|PMID:24033266|PMID:24436047|PMID:24718990|PMID:24790373|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25425531|PMID:25741868|PMID:25862627|PMID:26138366|PMID:26817465|PMID:26918529|PMID:27069254|PMID:27276561|PMID:27993330|PMID:28483241|PMID:28492532|PMID:28748642|PMID:28912153|PMID:28966033|PMID:29300386|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30050098|PMID:30410095|PMID:30417923|PMID:31292302|PMID:31560489|PMID:31573083|PMID:32164556|PMID:32561839|PMID:32573669|PMID:34006472|PMID:34166060|PMID:35697228|PMID:35885957|PMID:36304179
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1115	sarcoma		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:11155	hypohidrosis		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:11992261|PMID:21365683|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:25862627|PMID:27353043|PMID:28074573|PMID:28492532|PMID:29493581|PMID:29758562|PMID:30602027|PMID:32233106|PMID:32719394|PMID:34006472|PMID:35396703|PMID:9491886
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:11168	anogenital venereal wart		ISO	RGD:731746	D	RGD:9068941	20201001	RGD		protein:increased expression:foreskin	PMID:18543080|REF_RGD_ID:39128248
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:11383	cryptorchidism		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14982869|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15604238|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15761018|PMID:15834506|PMID:15928039|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16498234|PMID:16804314|PMID:16892325|PMID:16990350|PMID:17020470|PMID:1733916|PMID:17339163|PMID:17497712|PMID:17661820|PMID:17972951|PMID:18286234|PMID:18372317|PMID:18470943|PMID:18678287|PMID:18758896|PMID:18854871|PMID:19020799|PMID:19047918|PMID:19077116|PMID:19179468|PMID:19352411|PMID:19621452|PMID:19737548|PMID:19835954|PMID:20186801|PMID:20301303|PMID:20718194|PMID:21106241|PMID:21204800|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21590266|PMID:21784453|PMID:21901340|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22681964|PMID:22711529|PMID:22781091|PMID:23321623|PMID:23334668|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24183200|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24754368|PMID:24803665|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25337068|PMID:25395418|PMID:25425531|PMID:25533962|PMID:25595571|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26785492|PMID:26817465|PMID:26822237|PMID:27030275|PMID:27038324|PMID:27104176|PMID:27276561|PMID:27993330|PMID:28328117|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28912153|PMID:28966033|PMID:29300386|PMID:29493581|PMID:29555671|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30050098|PMID:30055033|PMID:30311386|PMID:30410095|PMID:30417923|PMID:30692697|PMID:30732632|PMID:31219622|PMID:31292302|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32561839|PMID:32668031|PMID:32737134|PMID:32901917|PMID:34008892|PMID:34303558|PMID:34850017|PMID:34988410|PMID:35101336|PMID:35697228|PMID:38540404|PMID:39596579|PMID:9491886
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:114	heart disease		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Heart disease	PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:17339163|PMID:19020799|PMID:19077116|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29493581|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:11476	osteoporosis		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15987685|PMID:16358218|PMID:16892325|PMID:16990350|PMID:17661820|PMID:18372317|PMID:21590266|PMID:22190897|PMID:22781091|PMID:23584145|PMID:24033266|PMID:25425531|PMID:25741868|PMID:25862627|PMID:27993330|PMID:28483241|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29300386|PMID:29763623|PMID:29988639|PMID:30050098|PMID:30417923|PMID:31560489|PMID:35697228
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:11782	astigmatism		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:16358218|PMID:18470943|PMID:18678287|PMID:18758896|PMID:21407260|PMID:21533187|PMID:22465605|PMID:23334668|PMID:23513489|PMID:23756559|PMID:24033266|PMID:24754368|PMID:24935154|PMID:25533962|PMID:25741868|PMID:28492532|PMID:28628100|PMID:29493581|PMID:32164556|PMID:9491886
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:11914	gastroparesis		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroparesis	PMID:25741868
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:11992261|PMID:12058348|PMID:12960218|PMID:14644997|PMID:14961557|PMID:15001945|PMID:15121796|PMID:15385933|PMID:15520399|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15889278|PMID:16338218|PMID:16358218|PMID:16377799|PMID:16638574|PMID:16733669|PMID:17576681|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18241070|PMID:18372317|PMID:18373317|PMID:18505544|PMID:18759865|PMID:18849586|PMID:19047918|PMID:19054014|PMID:19077116|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19273734|PMID:19582499|PMID:19825837|PMID:19864201|PMID:20301303|PMID:20301557|PMID:20301772|PMID:20308328|PMID:20493809|PMID:20535210|PMID:2057894|PMID:20883402|PMID:20954246|PMID:21365175|PMID:21533187|PMID:21677813|PMID:21803945|PMID:21910226|PMID:21910245|PMID:22058153|PMID:22190897|PMID:22411627|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22781091|PMID:23317994|PMID:23457302|PMID:23673659|PMID:23813970|PMID:24033266|PMID:24037001|PMID:24451042|PMID:24767283|PMID:24775816|PMID:24935154|PMID:25097206|PMID:25359717|PMID:25395418|PMID:25544017|PMID:25708222|PMID:25724491|PMID:25741868|PMID:25884655|PMID:25917897|PMID:26337637|PMID:26742426|PMID:27069254|PMID:27238887|PMID:27276561|PMID:27484170|PMID:27659786|PMID:28492532|PMID:28681392|PMID:28973083|PMID:29346770|PMID:29493581|PMID:30025578|PMID:30732632|PMID:32164556|PMID:35050212|PMID:9536098
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:12128	pica disease		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pica	PMID:24451042|PMID:25741868|PMID:28492532|PMID:33726816|PMID:34136434|PMID:40127276
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:12270	coloboma		ISO	RGD:731746	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:11992261|PMID:12161469|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15009076|PMID:15240615|PMID:15385933|PMID:15539800|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15928039|PMID:15948193|PMID:15987685|PMID:16115145|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17910045|PMID:17972951|PMID:18331608|PMID:18454468|PMID:19063751|PMID:20237506|PMID:20383758|PMID:22465605|PMID:23446178|PMID:23832011|PMID:24033266|PMID:24718990|PMID:25097206|PMID:25741868|PMID:26286251|PMID:28492532|PMID:29493581|PMID:32164556
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1240	leukemia		ISO	RGD:731746	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Leukemia	PMID:11992261|PMID:12161469|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15009076|PMID:15240615|PMID:15385933|PMID:15539800|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15928039|PMID:15948193|PMID:15987685|PMID:16115145|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17910045|PMID:17972951|PMID:18331608|PMID:18454468|PMID:19063751|PMID:20237506|PMID:20383758|PMID:22465605|PMID:23446178|PMID:23832011|PMID:24033266|PMID:24718990|PMID:25097206|PMID:25741868|PMID:26286251|PMID:28492532|PMID:29493581|PMID:32164556
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1247	blood coagulation disease		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14676626|PMID:15001945|PMID:15009076|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15539800|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15928039|PMID:15948193|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16115145|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17661820|PMID:17910045|PMID:17972951|PMID:18331608|PMID:18454468|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19063751|PMID:19077116|PMID:20237506|PMID:20383758|PMID:20718194|PMID:21340158|PMID:21533187|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23446178|PMID:23726368|PMID:23832011|PMID:24033266|PMID:24451042|PMID:24628801|PMID:24718990|PMID:24935154|PMID:25097206|PMID:25595571|PMID:25741868|PMID:25741869|PMID:26286251|PMID:26467025|PMID:26817465|PMID:26822237|PMID:28492532|PMID:29493581|PMID:32164556|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:731746	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Duane retraction syndrome	PMID:25741868|PMID:28492532
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:11704759|PMID:15834506|PMID:19077116|PMID:20852937|PMID:21407260|PMID:22959829|PMID:23917401|PMID:24033266|PMID:25741868|PMID:26817465|PMID:28492532|PMID:28748642|PMID:31560489|PMID:31573083|PMID:34006472
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1287	cardiovascular system disease		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:11992261|PMID:12161469|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:16358218|PMID:17020470|PMID:18470943|PMID:18678287|PMID:18758896|PMID:19020799|PMID:19621452|PMID:21106241|PMID:21407260|PMID:21533187|PMID:21784453|PMID:21901340|PMID:22465605|PMID:22681964|PMID:23321623|PMID:23334668|PMID:23513489|PMID:23756559|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24150203|PMID:24183200|PMID:24451042|PMID:24754368|PMID:24935154|PMID:25533962|PMID:25741868|PMID:27030275|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28628100|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30732632|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32668031|PMID:34303558|PMID:35769956|PMID:35979676|PMID:9491886
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18759865|PMID:21934682|PMID:22923420|PMID:24033266|PMID:24803665|PMID:25500235|PMID:25612910|PMID:25741868|PMID:27153395|PMID:28051113|PMID:28492532
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1324	lung cancer		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:13620	patent foramen ovale		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type | ClinVar Annotator: match by term: Patent foramen ovale	PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15956085|PMID:15985475|PMID:16263833|PMID:16358218|PMID:16804314|PMID:17020470|PMID:17339163|PMID:18678287|PMID:19020799|PMID:19077116|PMID:19125092|PMID:19260062|PMID:19352411|PMID:20030748|PMID:20301303|PMID:21204800|PMID:21407260|PMID:21533187|PMID:21590266|PMID:22465605|PMID:22551697|PMID:22711529|PMID:24033266|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:26918529|PMID:28492532|PMID:29493581|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15834506|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:16498234|PMID:17020470|PMID:17339163|PMID:17497712|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25533962|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29555671|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892|PMID:37600658
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:14291	Noonan syndrome with multiple lentigines		ISO	RGD:731746	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC | ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME | ClinVar Annotator: match by term: Multiple lentigines syndrome | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines	PMID:10616841|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:14991917|PMID:15001945|PMID:15009076|PMID:15024725|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16172598|PMID:16263833|PMID:16338218|PMID:1635821|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16533526|PMID:16557282|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20883402|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21396583|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21628937|PMID:21677813|PMID:21747628|PMID:21757836|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22427542|PMID:22465605|PMID:22488759|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:23001123|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24891296|PMID:24896146|PMID:24935154|PMID:24938718|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25263441|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25381062|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:14291	Noonan syndrome with multiple lentigines		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC | ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME | ClinVar Annotator: match by term: Multiple lentigines syndrome | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines	PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12960218|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14982869|PMID:14991917|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16115145|PMID:16124853|PMID:16172598|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16377799|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16638574|PMID:16643459|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16892325|PMID:16990350|PMID:17020470|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17453145|PMID:17497712|PMID:17546245|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18286234|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19659470|PMID:19681119|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19825837|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20301772|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:2057894|PMID:20578946|PMID:20718194|PMID:20883402|PMID:20954246|PMID:21106241|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21396583|PMID:21407260|PMID:21533187|PMID:21590266|PMID:21677813|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22142829|PMID:22190897|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22923420|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23817572|PMID:23832011|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24436047|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:2482075|PMID:24820750|PMID:24891296|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25263441|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25381062|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25708222|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26138366|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26377839|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26633542|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27659786|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28098151|PMID:28328117|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28912153|PMID:28966033|PMID:28973083|PMID:28991257|PMID:29146883|PMID:29212898|PMID:29263817|PMID:29276006|PMID:29300386
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:14291	Noonan syndrome with multiple lentigines		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC | ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME | ClinVar Annotator: match by term: Multiple lentigines syndrome | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines	PMID:29346770|PMID:29493581|PMID:29555671|PMID:29602897|PMID:29758562|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30105547|PMID:30311386|PMID:30375388|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31446693|PMID:31560489|PMID:31722741|PMID:31827275|PMID:31941532|PMID:32154134|PMID:32164556|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32565546|PMID:32573669|PMID:32668031|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32901917|PMID:33258288|PMID:33300679|PMID:33318624|PMID:33568805|PMID:33776629|PMID:33794220|PMID:33811550|PMID:34006472|PMID:34008892|PMID:34143244|PMID:34166060|PMID:34303558|PMID:34346503|PMID:34358384|PMID:34411415|PMID:34782754|PMID:34850017|PMID:34988410|PMID:35050212|PMID:35101336|PMID:35325944|PMID:35396703|PMID:35587316|PMID:35697228|PMID:35858754|PMID:35885957|PMID:35979676|PMID:36304179|PMID:36349709|PMID:36496429|PMID:36647814|PMID:38374194|PMID:38540404|PMID:39392019|PMID:39596579|PMID:40818059|PMID:9491886|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:11704759|PMID:11992261|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15248152|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15710330|PMID:15723289|PMID:15761018|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17661820|PMID:17972951|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19047918|PMID:19077116|PMID:19179468|PMID:19659470|PMID:20493809|PMID:20718194|PMID:21340158|PMID:21533187|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23726368|PMID:23799168|PMID:24033266|PMID:24451042|PMID:24628801|PMID:24718990|PMID:24935154|PMID:25263441|PMID:25381062|PMID:25395418|PMID:25595571|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26817465|PMID:26822237|PMID:27069254|PMID:27276561|PMID:28492532|PMID:32154134|PMID:34850017|PMID:34988410|PMID:35101336|PMID:35587316|PMID:36647814|PMID:38540404|PMID:39596579|PMID:40818059
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1459	hypothyroidism		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:11992261|PMID:12717436|PMID:15121796|PMID:15389709|PMID:15689434|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17339163|PMID:17453145|PMID:18241070|PMID:18470943|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19120036|PMID:20301303|PMID:20301557|PMID:23771920|PMID:24033266|PMID:24183200|PMID:24718990|PMID:24935154|PMID:25741868|PMID:25937001|PMID:26918529|PMID:27521173|PMID:28492532|PMID:29263817|PMID:29602897|PMID:30105547|PMID:30417923|PMID:30732632|PMID:30896080|PMID:31259454|PMID:31560489|PMID:32164556|PMID:32565546|PMID:3274644|PMID:32746448|PMID:33300679|PMID:33318624|PMID:35325944|PMID:36304179|PMID:38540404
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1588	thrombocytopenia		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:11992261|PMID:12161469|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15009076|PMID:15240615|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15690106|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15987685|PMID:16115145|PMID:16358218|PMID:16377799|PMID:16733669|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17910045|PMID:17972951|PMID:18241070|PMID:18331608|PMID:18454468|PMID:18505544|PMID:19063751|PMID:19077116|PMID:19273734|PMID:19582499|PMID:20237506|PMID:20301557|PMID:20383758|PMID:2057894|PMID:20954246|PMID:21677813|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23446178|PMID:23673659|PMID:23832011|PMID:24033266|PMID:24718990|PMID:24935154|PMID:25097206|PMID:25359717|PMID:25708222|PMID:25724491|PMID:25741868|PMID:26286251|PMID:26742426|PMID:28492532|PMID:28973083|PMID:29493581|PMID:30732632|PMID:32164556|PMID:35050212
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1657	ventricular septal defect		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15121796|PMID:15248152|PMID:15385933|PMID:15389709|PMID:15710330|PMID:15723289|PMID:15761018|PMID:15834506|PMID:15928039|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16498234|PMID:16804314|PMID:16990350|PMID:17020470|PMID:1733916|PMID:17339163|PMID:17453145|PMID:17497712|PMID:17661820|PMID:17972951|PMID:18241070|PMID:18286234|PMID:18470943|PMID:18678287|PMID:18758896|PMID:18854871|PMID:19020799|PMID:19047918|PMID:19077116|PMID:19125092|PMID:19179468|PMID:19260062|PMID:19621452|PMID:19737548|PMID:19835954|PMID:20030748|PMID:20301303|PMID:20301557|PMID:20718194|PMID:21204800|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21590266|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22551697|PMID:22711529|PMID:22781091|PMID:23624134|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24754368|PMID:24803665|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25337068|PMID:25395418|PMID:25595571|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25937001|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27104176|PMID:27276561|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29263817|PMID:29493581|PMID:29602897|PMID:29907801|PMID:30055033|PMID:30105547|PMID:30311386|PMID:30410095|PMID:30417923|PMID:30692697|PMID:30732632|PMID:30896080|PMID:31219622|PMID:31259454|PMID:31292302|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32561839|PMID:3274644|PMID:32746448|PMID:32901917|PMID:33318624|PMID:34008892|PMID:34850017|PMID:34988410|PMID:35101336|PMID:35325944|PMID:38540404|PMID:39596579|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1686	glaucoma		ISO	RGD:3447	D	RGD:9068941	20201001	RGD		protein:increased expression,increased phosphorylation:retina	PMID:30341011|REF_RGD_ID:39456090
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1686	glaucoma		ISO	RGD:731746	D	RGD:9068941	20201001	RGD		protein:increased phosphorylation:retina	PMID:30341011|REF_RGD_ID:39456090
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1686	glaucoma	treatment	ISO	RGD:3447	D	RGD:9068941	20201001	RGD			PMID:30341011|REF_RGD_ID:39456090
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1712	aortic valve stenosis		ISO	RGD:731747	D	RGD:9068941	20200609	RGD		with Egfr mutation	PMID:10700187|REF_RGD_ID:734918
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:731746	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26432044
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:178	vascular disease		ISO	RGD:731746	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Vascular disorder	PMID:11992261|PMID:12161469|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15009076|PMID:15240615|PMID:15385933|PMID:15539800|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15928039|PMID:15948193|PMID:15987685|PMID:16115145|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17910045|PMID:17972951|PMID:18331608|PMID:18454468|PMID:19063751|PMID:20237506|PMID:20383758|PMID:22465605|PMID:23446178|PMID:23832011|PMID:24033266|PMID:24718990|PMID:25097206|PMID:25741868|PMID:26286251|PMID:28492532|PMID:29493581|PMID:32164556
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1826	epilepsy		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11992261|PMID:21365683|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:25862627|PMID:27353043|PMID:28074573|PMID:28492532|PMID:29493581|PMID:29758562|PMID:30602027|PMID:32233106|PMID:32719394|PMID:34006472|PMID:35396703|PMID:9491886
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1882	atrial heart septal defect		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15240615|PMID:15385933|PMID:15604238|PMID:15710330|PMID:15928039|PMID:15956085|PMID:15985475|PMID:15987685|PMID:16263833|PMID:16358218|PMID:16804314|PMID:16990350|PMID:17020470|PMID:1733916|PMID:17339163|PMID:17972951|PMID:18286234|PMID:18470943|PMID:18678287|PMID:19020799|PMID:19047918|PMID:19077116|PMID:19125092|PMID:19179468|PMID:19260062|PMID:19352411|PMID:19835954|PMID:20030748|PMID:20301303|PMID:21204800|PMID:21407260|PMID:21533187|PMID:21590266|PMID:22465605|PMID:22551697|PMID:22711529|PMID:24033266|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25533962|PMID:25741868|PMID:26817465|PMID:26918529|PMID:27276561|PMID:28492532|PMID:29493581|PMID:29555671|PMID:29907801|PMID:30410095|PMID:31292302|PMID:31560489|PMID:32164556|PMID:32561839|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1891	optic nerve disease		ISO	RGD:731746	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:24451042|PMID:25741868|PMID:28492532|PMID:34308104
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1909	melanoma		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1929	supravalvular aortic stenosis		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Supravalvar aortic stenosis	PMID:11704759|PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15248152|PMID:15723289|PMID:15761018|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17661820|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:20718194|PMID:21340158|PMID:21533187|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23726368|PMID:24033266|PMID:24451042|PMID:24628801|PMID:24935154|PMID:25595571|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26817465|PMID:26822237|PMID:28492532|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:1969	cerebral palsy		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:11704759|PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15248152|PMID:15723289|PMID:15761018|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17661820|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:20718194|PMID:21340158|PMID:21533187|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23726368|PMID:24033266|PMID:24451042|PMID:24628801|PMID:24935154|PMID:25595571|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26817465|PMID:26822237|PMID:28492532|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:2030	anxiety disorder		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:24033266|PMID:24451042|PMID:25741868|PMID:28492532|PMID:29696744|PMID:33726816|PMID:34136434|PMID:40127276
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:206	hereditary multiple exostoses		ISO	RGD:731746	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21533187
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia	PMID:11992261|PMID:21365683|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:25862627|PMID:27353043|PMID:28074573|PMID:28492532|PMID:29493581|PMID:29758562|PMID:30602027|PMID:32233106|PMID:32719394|PMID:34006472|PMID:35396703|PMID:9491886
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:2340	craniosynostosis		ISO	RGD:731746	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: FGFR2-related craniosynostosis	PMID:11992261|PMID:14644997|PMID:15723289|PMID:15987685|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:19737548|PMID:20308328|PMID:22315187|PMID:22488759|PMID:23584145|PMID:24033266|PMID:24628801|PMID:25585602|PMID:25595571|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:2355	anemia		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:28492532|PMID:37847107
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:2602	chondroma		ISO	RGD:731746	D	RGD:9068941	20200609	RGD		DNA:deletion, nonsense mutation:exon:c.514_524del11, p.R138X (human)	PMID:20577567|REF_RGD_ID:11069623
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:2725	capillary hemangioma		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Capillary hemangioma	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:2843	long QT syndrome		ISO	RGD:731746	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	PMID:14644997|PMID:14961557|PMID:15121796|PMID:15723289|PMID:15928039|PMID:15987685|PMID:16358218|PMID:18470943|PMID:20301557|PMID:20954246|PMID:22528600|PMID:24033266|PMID:24628801|PMID:24935154|PMID:25741868|PMID:25937001|PMID:26742426|PMID:28492532|PMID:31219622|PMID:32164556
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:299	adenocarcinoma		ISO	RGD:731746	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26432044
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:3069	malignant astrocytoma		ISO	RGD:731746	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Astrocytic tumor	PMID:15985475|PMID:18470943|PMID:20186801|PMID:22781091|PMID:23624134|PMID:25741868|PMID:28492532|PMID:28650561|PMID:30311386|PMID:32737134
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:3070	high grade glioma		ISO	RGD:731746	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Astrocytoma	PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15710330|PMID:15834506|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:17942397|PMID:17972951|PMID:18470943|PMID:18559669|PMID:18678287|PMID:19047918|PMID:19179468|PMID:19509418|PMID:19798502|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:25395418|PMID:26619011|PMID:26783207|PMID:27069254|PMID:27276561|PMID:27783593|PMID:28098151|PMID:28492532|PMID:32561839|PMID:36349709
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:3070	high grade glioma		ISO	RGD:731746	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15710330|PMID:15834506|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:17942397|PMID:17972951|PMID:18470943|PMID:18559669|PMID:18678287|PMID:19047918|PMID:19179468|PMID:19509418|PMID:19798502|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:26783207|PMID:27069254|PMID:27276561|PMID:27783593|PMID:28098151|PMID:28492532|PMID:32561839|PMID:36349709
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:3081	cystic lymphangioma		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cystic hygroma	PMID:11992261|PMID:12634870|PMID:16358218|PMID:23321623|PMID:25331952|PMID:25741868|PMID:30266093|PMID:32627857|PMID:34358384
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:3138	acanthosis nigricans		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	PMID:24451042|PMID:25741868|PMID:28492532|PMID:33726816|PMID:34136434|PMID:40127276
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA, EMBRYONAL	PMID:11992261|PMID:14644997|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15710330|PMID:15834506|PMID:15889278|PMID:15948193|PMID:16377799|PMID:16518851|PMID:16733669|PMID:17972951|PMID:18223690|PMID:18470943|PMID:18759865|PMID:19047918|PMID:19659470|PMID:19681119|PMID:20301557|PMID:20493809|PMID:21465649|PMID:21533187|PMID:21784453|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22142829|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23321623|PMID:23799168|PMID:23817572|PMID:24033266|PMID:24436047|PMID:24718990|PMID:24775816|PMID:24790373|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26138366|PMID:26918529|PMID:27030275|PMID:27069254|PMID:27193571|PMID:27276561|PMID:27993330|PMID:28483241|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29763623|PMID:29907801|PMID:30018082|PMID:30097824|PMID:31040167|PMID:31263281|PMID:31560489|PMID:32164789|PMID:32188694|PMID:32573669|PMID:32806529|PMID:33318624|PMID:34166060|PMID:35697228|PMID:35885957|PMID:36304179|PMID:39484914
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:3275	thymoma		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:3362	coronary aneurysm		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Coronary aneurysm	PMID:11704759|PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15248152|PMID:15723289|PMID:15761018|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17661820|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:20718194|PMID:21340158|PMID:21533187|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23726368|PMID:24033266|PMID:24451042|PMID:24628801|PMID:24935154|PMID:25595571|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26817465|PMID:26822237|PMID:28492532|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:3369	Ewing sarcoma		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ewing sarcoma	PMID:25741868
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:3490	Noonan syndrome		ISO	RGD:731746	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome | ClinVar Annotator: match by term: Turner Syndrome, Male	PMID:25326637|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26041598|PMID:26084119|PMID:26206283|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26377839|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26527198|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26633542|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27168466|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27460089|PMID:27479907|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27884971|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28117207|PMID:28125078|PMID:28135719|PMID:28191889|PMID:28295036|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28561207|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29057136|PMID:29084544|PMID:29146883|PMID:29212898|PMID:29214238|PMID:29222009|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29356064|PMID:29493581|PMID:29517769|PMID:29555671|PMID:29602897|PMID:29620724|PMID:29625052|PMID:29693080|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30029678|PMID:30050098|PMID:30055033|PMID:30105547|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30459321|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31057598|PMID:31064749|PMID:31164752|PMID:31219622|PMID:31259454|PMID:31292302|PMID:31324109|PMID:31370276|PMID:31446693|PMID:31560489|PMID:31562133|PMID:31564432|PMID:31573083|PMID:31637070|PMID:31722741|PMID:31836589|PMID:31941532|PMID:32059087|PMID:32112654|PMID:32164556|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32786180|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33042901|PMID:33057194|PMID:33091040|PMID:33128510|PMID:33258285|PMID:33258288|PMID:33289110|PMID:33300679|PMID:33318624|PMID:33473208|PMID:33568805|PMID:33619735|PMID:33726816|PMID:33794220|PMID:33811550|PMID:33850299|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34194850|PMID:34356170|PMID:34411415|PMID:34589056|PMID:34782754|PMID:34974531|PMID:35248088|PMID:35418823|PMID:35574990|PMID:35616356|PMID:35769956|PMID:35858754|PMID:35885957|PMID:35904599|PMID:35979676|PMID:35982159|PMID:36135330|PMID:36474027|PMID:36567979|PMID:36939041|PMID:37019085|PMID:37493574|PMID:37525886|PMID:37568403|PMID:37605180|PMID:37923938|PMID:37987971|PMID:38318288|PMID:38413718|PMID:38540404|PMID:39033378|PMID:39434542|PMID:39596579|PMID:4746100|PMID:9295268|PMID:9326927|PMID:9491886|PMID:9536098|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:3490	Noonan syndrome		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: NOONAN SYNDROME | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome | ClinVar Annotator: match by term: Turner Syndrome, Male	PMID:000037664|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12960218|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:14991917|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16115145|PMID:16124853|PMID:16172598|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16377799|PMID:16467864|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16990350|PMID:17020470|PMID:17053061|PMID:17177198|PMID:17222357|PMID:17227708|PMID:1733916|PMID:17339163|PMID:17453145|PMID:17497712|PMID:17546245|PMID:17576681|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17942397|PMID:17972951|PMID:18080325|PMID:18223690|PMID:18241070|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19659470|PMID:19681119|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20301772|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:2057894|PMID:20578946|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20954246|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21396583|PMID:21407260|PMID:21465649|PMID:21533187|PMID:21590266|PMID:21677813|PMID:21680795|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22131879|PMID:22142829|PMID:22190897|PMID:22253195|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23817572|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23996481|PMID:24030381|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24436047|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:2482075|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25253770|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25708222|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26138366|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26377839|PMID:26424407|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26633542|PMID:26742426|PMID:26755576|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:3490	Noonan syndrome		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: NOONAN SYNDROME | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome | ClinVar Annotator: match by term: Turner Syndrome, Male	PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27460089|PMID:27484170|PMID:27521173|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27876779|PMID:27884971|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28191889|PMID:28328117|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28912153|PMID:28966033|PMID:28973083|PMID:28991257|PMID:29146883|PMID:29212898|PMID:29263817|PMID:29276006|PMID:29300386|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29568093|PMID:29602897|PMID:29758562|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30097824|PMID:30105547|PMID:30311386|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31057598|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31292302|PMID:31324109|PMID:31370276|PMID:31446693|PMID:31560489|PMID:31573083|PMID:31722741|PMID:31807022|PMID:31827275|PMID:31941532|PMID:32164556|PMID:32164789|PMID:32188694|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32565546|PMID:32573669|PMID:32668031|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32794475|PMID:32806529|PMID:32901917|PMID:33167018|PMID:33258288|PMID:33300679|PMID:33318624|PMID:33568805|PMID:33619735|PMID:33726816|PMID:33776629|PMID:33794220|PMID:33811550|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34166060|PMID:34184824|PMID:34303558|PMID:34346503|PMID:34358384|PMID:34411415|PMID:34555844|PMID:34589056|PMID:34782754|PMID:34850017|PMID:34906519|PMID:34988410|PMID:35050212|PMID:35101336|PMID:35278234|PMID:35325944|PMID:35396703|PMID:35441720|PMID:35616356|PMID:35697228|PMID:35769956|PMID:35858754|PMID:35885957|PMID:35979676|PMID:36304179|PMID:36349709|PMID:36373817|PMID:36496429|PMID:36544606|PMID:36714562|PMID:37600658|PMID:38374194|PMID:38540404|PMID:38572385|PMID:38862387|PMID:39392019|PMID:39484914|PMID:39596579|PMID:40127276|PMID:9491886|PMID:9536098|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:8599370	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of lung	PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16830086|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21930766|PMID:23825065|PMID:24033266|PMID:25741868|PMID:26619011|PMID:27783593|PMID:28492532
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:4080	tricuspid valve insufficiency		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tricuspid regurgitation | ClinVar Annotator: match by term: tricuspid valve insufficiency	PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:16643459|PMID:1672296|PMID:17020470|PMID:17339163|PMID:18470943|PMID:18701506|PMID:19020799|PMID:19077116|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22097954|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24039098|PMID:24935154|PMID:25533962|PMID:2564168|PMID:2572450|PMID:25741868|PMID:26817465|PMID:27959697|PMID:28492532|PMID:29493581|PMID:29555671|PMID:29907801|PMID:30375388|PMID:31560489|PMID:32164556
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:4362	cervical cancer		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:4624	Ollier disease		ISO	RGD:731746	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20577567|PMID:21533187
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:4851	pilocytic astrocytoma		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pilocytic astrocytoma	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15240615|PMID:15834506|PMID:15928039|PMID:16358218|PMID:16498234|PMID:16518851|PMID:17020470|PMID:17497712|PMID:18223690|PMID:18470943|PMID:18759865|PMID:19020799|PMID:19077116|PMID:19621452|PMID:19681119|PMID:20301303|PMID:21106241|PMID:21407260|PMID:21465649|PMID:21533187|PMID:21784453|PMID:21901340|PMID:22142829|PMID:22420426|PMID:22465605|PMID:22681964|PMID:22711529|PMID:23321623|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24183200|PMID:24219368|PMID:24436047|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26138366|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27030275|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30097824|PMID:30311386|PMID:30417923|PMID:30692697|PMID:30732632|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32164789|PMID:32188694|PMID:32371413|PMID:32668031|PMID:32806529|PMID:32901917|PMID:34008892|PMID:34166060|PMID:34303558
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:5041	esophageal cancer		ISO	RGD:731746	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia	PMID:11992261|PMID:12161469|PMID:15240615|PMID:16358218|PMID:17020470|PMID:18470943|PMID:19020799|PMID:19621452|PMID:21106241|PMID:21784453|PMID:21901340|PMID:22681964|PMID:23321623|PMID:23771920|PMID:23817572|PMID:24183200|PMID:25741868|PMID:27030275|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29907801|PMID:30732632|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32668031|PMID:34303558
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:5688	Werner syndrome		ISO	RGD:731746	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Werner syndrome	PMID:25741868|PMID:28074573|PMID:28492532|PMID:28819267|PMID:35396703
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:5805	subvalvular aortic stenosis		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Subvalvular aortic stenosis	PMID:11992261|PMID:14644997|PMID:15121796|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15710330|PMID:16358218|PMID:16377799|PMID:16518851|PMID:16804314|PMID:17453145|PMID:17972951|PMID:18241070|PMID:18678287|PMID:19020799|PMID:19047918|PMID:19659470|PMID:19681119|PMID:20301557|PMID:20493809|PMID:21533187|PMID:21784453|PMID:22142829|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23321623|PMID:23799168|PMID:24033266|PMID:24436047|PMID:24718990|PMID:24790373|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25741868|PMID:25937001|PMID:26138366|PMID:26918529|PMID:27069254|PMID:27276561|PMID:27993330|PMID:28483241|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29263817|PMID:29602897|PMID:29763623|PMID:29907801|PMID:30105547|PMID:30732632|PMID:30896080|PMID:31259454|PMID:32573669|PMID:3274644|PMID:32746448|PMID:33318624|PMID:34166060|PMID:35325944|PMID:35697228|PMID:35885957|PMID:36304179|PMID:38540404
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:630	genetic disease		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:28492532|PMID:29696744
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15987685|PMID:16358218|PMID:16892325|PMID:16990350|PMID:17661820|PMID:18372317|PMID:21590266|PMID:22190897|PMID:22781091|PMID:23584145|PMID:24033266|PMID:25425531|PMID:25741868|PMID:25862627|PMID:27993330|PMID:28483241|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29300386|PMID:29763623|PMID:29988639|PMID:30050098|PMID:30417923|PMID:31560489|PMID:35697228
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:6419	tetralogy of Fallot	susceptibility	ISO	RGD:731746	D	RGD:9068941	20200609	RGD		DNA:snp:intron:c.757-4333A>G (rs11066320) (human)	PMID:22503907|REF_RGD_ID:12743641
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14676626|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15389709|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15690106|PMID:15710330|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16115145|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16498234|PMID:16638574|PMID:16643459|PMID:16804314|PMID:16892325|PMID:16990350|PMID:17020470|PMID:17222357|PMID:17227708|PMID:1733916|PMID:17339163|PMID:17453145|PMID:17497712|PMID:17546245|PMID:17661820|PMID:17910045|PMID:17972951|PMID:18241070|PMID:18286234|PMID:18331608|PMID:18372317|PMID:18454468|PMID:18470943|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19047918|PMID:19063751|PMID:19077116|PMID:19125092|PMID:19179468|PMID:19260062|PMID:19352411|PMID:19621452|PMID:19835954|PMID:20030748|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20578946|PMID:20718194|PMID:21106241|PMID:21204800|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21590266|PMID:21677813|PMID:21784453|PMID:21901340|PMID:21910226|PMID:22058153|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22551697|PMID:22681964|PMID:22711529|PMID:22781091|PMID:23321623|PMID:23446178|PMID:23584145|PMID:23624134|PMID:23726368|PMID:23771920|PMID:23817572|PMID:23832011|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24183200|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24803665|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25337068|PMID:25395418|PMID:25425531|PMID:25533962|PMID:25595571|PMID:25708222|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25937001|PMID:26084119|PMID:26242988|PMID:26286251|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27104176|PMID:27193571|PMID:27276561|PMID:27993330|PMID:28328117|PMID:28483241|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29263817|PMID:29300386|PMID:29493581|PMID:29555671|PMID:29602897|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30050098|PMID:30055033|PMID:30105547|PMID:30311386|PMID:30410095|PMID:30417923|PMID:30692697|PMID:30732632|PMID:30896080|PMID:31219622|PMID:31259454|PMID:31292302|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32561839|PMID:32668031|PMID:3274644|PMID:32746448|PMID:32901917|PMID:33318624|PMID:34008892|PMID:34303558|PMID:34850017|PMID:34988410|PMID:35101336|PMID:35325944|PMID:35697228|PMID:36349709|PMID:36496429|PMID:38374194|PMID:38540404|PMID:39392019|PMID:39596579|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:769	neuroblastoma		ISO	RGD:731746	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:23334666
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:8469	influenza		ISO	RGD:731747	D	RGD:9068941	20201001	RGD		mRNA:increased expression:lung	PMID:31782850|REF_RGD_ID:39131288
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:848	arthritis		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arthritis	PMID:11992261|PMID:15121796|PMID:16523510|PMID:17339163|PMID:17875892|PMID:18241070|PMID:18505544|PMID:19737548|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:28492532|PMID:33776629
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:8488	polyhydramnios		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:17339163|PMID:19020799|PMID:19077116|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29493581|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Esophageal reflux	PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15928039|PMID:16358218|PMID:16377799|PMID:18470943|PMID:18678287|PMID:18758896|PMID:19077116|PMID:19568997|PMID:19737548|PMID:20186801|PMID:21533187|PMID:22465605|PMID:22681964|PMID:23334668|PMID:24033266|PMID:24754368|PMID:24935154|PMID:25097206|PMID:25741868|PMID:25742478|PMID:26918529|PMID:28492532|PMID:29146883|PMID:29907801|PMID:30417923|PMID:31560489|PMID:34008892|PMID:9491886
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:8927	learning disability		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:11992261|PMID:12717436|PMID:15121796|PMID:15689434|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16523510|PMID:17020470|PMID:17339163|PMID:17875892|PMID:18241070|PMID:18470943|PMID:18505544|PMID:18678287|PMID:18854871|PMID:19120036|PMID:19737548|PMID:20301303|PMID:20301557|PMID:21533187|PMID:23771920|PMID:24033266|PMID:24183200|PMID:24935154|PMID:25741868|PMID:26918529|PMID:27521173|PMID:28492532|PMID:30417923|PMID:31560489|PMID:32164556|PMID:32565546|PMID:33300679|PMID:33776629|PMID:36304179
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:8929	atrophic gastritis	severity	ISO	RGD:731746	D	RGD:9068941	20201001	RGD		associated with Helicobacter Infections;DNA:SNP:intron: rs2301756(human)	PMID:19589142|REF_RGD_ID:39128247
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:8929	atrophic gastritis	susceptibility	ISO	RGD:731746	D	RGD:9068941	20200925	RGD		associated with Helicobacter Infections; DNA:SNP:Cds:	PMID:17211494|REF_RGD_ID:39128202
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:8929	atrophic gastritis	susceptibility	ISO	RGD:731746	D	RGD:9068941	20201001	RGD		DNA:SNP:intron:rs2301756 (human)	PMID:18712962|REF_RGD_ID:39131286
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:8929	atrophic gastritis	susceptibility	ISO	RGD:731746	D	RGD:9068941	20201001	RGD		associated with Helicobacter Infections; DNA:SNP: :rs12423190 (human	PMID:22788847|REF_RGD_ID:39131289
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9000006	Supraventricular Tachycardia		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Supraventricular tachycardia	PMID:11992261|PMID:16263833|PMID:16643459|PMID:1672296|PMID:17020470|PMID:18470943|PMID:18701506|PMID:21407260|PMID:22097954|PMID:22465605|PMID:24039098|PMID:2564168|PMID:2572450|PMID:25741868|PMID:26817465|PMID:27959697|PMID:28492532|PMID:29907801|PMID:30375388
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9000053	Headache		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Headache	PMID:11704759|PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15248152|PMID:15723289|PMID:15761018|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17661820|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:20718194|PMID:21340158|PMID:21533187|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23726368|PMID:24033266|PMID:24451042|PMID:24628801|PMID:24935154|PMID:25595571|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26817465|PMID:26822237|PMID:28492532|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:15520399|PMID:15690106|PMID:15889278|PMID:16358218|PMID:16733669|PMID:18241070|PMID:18505544|PMID:19077116|PMID:19273734|PMID:19582499|PMID:20301557|PMID:2057894|PMID:20954246|PMID:21677813|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22190897|PMID:22781091|PMID:23673659|PMID:24033266|PMID:24935154|PMID:25359717|PMID:25708222|PMID:25724491|PMID:25741868|PMID:26742426|PMID:28492532|PMID:28973083|PMID:30732632|PMID:35050212
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9000197	Edema		ISO	RGD:731746	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Edema	PMID:11992261|PMID:12161469|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15009076|PMID:15240615|PMID:15385933|PMID:15539800|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15928039|PMID:15948193|PMID:15987685|PMID:16115145|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17910045|PMID:17972951|PMID:18331608|PMID:18454468|PMID:19063751|PMID:20237506|PMID:20383758|PMID:22465605|PMID:23446178|PMID:23832011|PMID:24033266|PMID:24718990|PMID:25097206|PMID:25741868|PMID:26286251|PMID:28492532|PMID:29493581|PMID:32164556
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9000323	Biventricular Hypertrophy		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Biventricular hypertrophy	PMID:15121796|PMID:15389709|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17453145|PMID:18241070|PMID:18678287|PMID:19020799|PMID:20301557|PMID:24033266|PMID:24718990|PMID:24935154|PMID:25741868|PMID:25937001|PMID:28492532|PMID:29263817|PMID:29602897|PMID:30105547|PMID:30732632|PMID:30896080|PMID:31259454|PMID:3274644|PMID:32746448|PMID:33318624|PMID:35325944|PMID:38540404
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9000343	Vision Disorders		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:24451042|PMID:25741868|PMID:28492532|PMID:33726816|PMID:34136434|PMID:40127276
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9000590	Dyspnea		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9001031	Retrognathia		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:24033266|PMID:28492532|PMID:29696744
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9001049	Staphylococcal Pneumonia		ISO	RGD:731747	D	RGD:9068941	20201001	RGD		mRNA:increased expression:lung	PMID:31782850|REF_RGD_ID:39131288
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9001049	Staphylococcal Pneumonia	severity	ISO	RGD:731747	D	RGD:9068941	20201001	RGD		associated with influenza	PMID:31782850|REF_RGD_ID:39131288
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9001239	Delayed Puberty		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9001276	Failure to Thrive		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14676626|PMID:15001945|PMID:15009076|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15539800|PMID:15604238|PMID:15710330|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15928039|PMID:15948193|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16115145|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16498234|PMID:16804314|PMID:16990350|PMID:17020470|PMID:17222357|PMID:17227708|PMID:1733916|PMID:17339163|PMID:17497712|PMID:17546245|PMID:17661820|PMID:17910045|PMID:17972951|PMID:18286234|PMID:18331608|PMID:18454468|PMID:18470943|PMID:18678287|PMID:18758896|PMID:18854871|PMID:19020799|PMID:19047918|PMID:19063751|PMID:19077116|PMID:19179468|PMID:19352411|PMID:19568997|PMID:19621452|PMID:19737548|PMID:19835954|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20383758|PMID:20718194|PMID:21204800|PMID:21340158|PMID:21407260|PMID:21533187|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22681964|PMID:22711529|PMID:22781091|PMID:23334668|PMID:23446178|PMID:23513489|PMID:23624134|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23817572|PMID:23832011|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24754368|PMID:24803665|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25337068|PMID:25395418|PMID:25533962|PMID:25595571|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26286251|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27104176|PMID:27276561|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28628100|PMID:28912153|PMID:29146883|PMID:29493581|PMID:29555671|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30410095|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31292302|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32561839|PMID:32901917|PMID:34008892|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579|PMID:9491886
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9001510	Funnel Chest		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:16358218|PMID:18470943|PMID:18678287|PMID:18758896|PMID:21407260|PMID:21533187|PMID:22465605|PMID:23334668|PMID:23513489|PMID:23756559|PMID:24033266|PMID:24754368|PMID:24935154|PMID:25533962|PMID:25741868|PMID:28492532|PMID:28628100|PMID:29493581|PMID:29696744|PMID:32164556|PMID:9491886
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15987685|PMID:16358218|PMID:16892325|PMID:16990350|PMID:17661820|PMID:18372317|PMID:21590266|PMID:22190897|PMID:22781091|PMID:23584145|PMID:24033266|PMID:25425531|PMID:25741868|PMID:25862627|PMID:27993330|PMID:28483241|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29300386|PMID:29763623|PMID:29988639|PMID:30050098|PMID:30417923|PMID:31560489|PMID:35697228
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9002134	Heart Murmurs		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:11704759|PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15248152|PMID:15723289|PMID:15761018|PMID:15834506|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17661820|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:20718194|PMID:20852937|PMID:21340158|PMID:21407260|PMID:21533187|PMID:22190897|PMID:22465605|PMID:22781091|PMID:22959829|PMID:23726368|PMID:23917401|PMID:24033266|PMID:24451042|PMID:24628801|PMID:24935154|PMID:25595571|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26817465|PMID:26822237|PMID:28492532|PMID:28748642|PMID:31560489|PMID:31573083|PMID:34006472|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:16358218|PMID:18470943|PMID:18678287|PMID:18758896|PMID:21407260|PMID:21533187|PMID:22465605|PMID:23334668|PMID:23513489|PMID:23756559|PMID:24033266|PMID:24754368|PMID:24935154|PMID:25533962|PMID:25741868|PMID:28492532|PMID:28628100|PMID:29493581|PMID:32164556|PMID:9491886
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9002231	Fetal Growth Retardation	treatment	ISO	RGD:3447	D	RGD:9068941	20200609	RGD		with postnatal growth restriction	PMID:19491300|REF_RGD_ID:12743586
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:11992261|PMID:12058348|PMID:12960218|PMID:14644997|PMID:14961557|PMID:15001945|PMID:15121796|PMID:15385933|PMID:15520399|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15889278|PMID:15948193|PMID:16338218|PMID:16358218|PMID:16377799|PMID:16523510|PMID:16638574|PMID:17339163|PMID:17875892|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18241070|PMID:18372317|PMID:18373317|PMID:18505544|PMID:18759865|PMID:18849586|PMID:19047918|PMID:19054014|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19737548|PMID:19825837|PMID:19864201|PMID:20301303|PMID:20301557|PMID:20301772|PMID:20308328|PMID:20493809|PMID:20535210|PMID:20578946|PMID:20883402|PMID:21365175|PMID:21533187|PMID:21677813|PMID:21910226|PMID:21910245|PMID:22058153|PMID:22190897|PMID:22411627|PMID:22488759|PMID:22555271|PMID:22585553|PMID:22681964|PMID:23317994|PMID:23457302|PMID:23813970|PMID:24033266|PMID:24037001|PMID:24451042|PMID:24767283|PMID:24775816|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25544017|PMID:25708222|PMID:25741868|PMID:25884655|PMID:25917897|PMID:26337637|PMID:27069254|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27484170|PMID:27659786|PMID:28492532|PMID:28681392|PMID:29346770|PMID:29493581|PMID:30025578|PMID:32164556|PMID:33776629
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9002854	Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia		ISO	RGD:731746	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: CBL SYNDROME	PMID:11992261|PMID:12058348|PMID:12161596|PMID:14634749|PMID:14991917|PMID:15121796|PMID:15389709|PMID:15520399|PMID:16053901|PMID:16172598|PMID:16358218|PMID:16377799|PMID:16638574|PMID:16679933|PMID:17020470|PMID:18372317|PMID:18849586|PMID:19725129|PMID:19768645|PMID:20301557|PMID:20308328|PMID:21339643|PMID:21747628|PMID:22681964|PMID:22822385|PMID:23673659|PMID:24033266|PMID:24037001|PMID:24401936|PMID:24775816|PMID:24820750|PMID:24935154|PMID:25731833|PMID:25741868|PMID:25917897|PMID:26337637|PMID:26377839|PMID:26467025|PMID:26918529|PMID:27479907|PMID:28135719|PMID:28483241|PMID:28492532|PMID:29222009|PMID:29276006|PMID:29907801|PMID:30311386|PMID:30692697|PMID:30732632|PMID:31446693|PMID:31722741|PMID:32164556|PMID:33258288
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9002854	Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CBL SYNDROME	PMID:11992261|PMID:12058348|PMID:12161596|PMID:14634749|PMID:14991917|PMID:15121796|PMID:15520399|PMID:16053901|PMID:16172598|PMID:16358218|PMID:16377799|PMID:16638574|PMID:16679933|PMID:17020470|PMID:18372317|PMID:18849586|PMID:19725129|PMID:19768645|PMID:20301557|PMID:20308328|PMID:21339643|PMID:21533187|PMID:21747628|PMID:22681964|PMID:22822385|PMID:23673659|PMID:24033266|PMID:24037001|PMID:24401936|PMID:24775816|PMID:2482075|PMID:24820750|PMID:24935154|PMID:25731833|PMID:25741868|PMID:25917897|PMID:26337637|PMID:26377839|PMID:26467025|PMID:26918529|PMID:28483241|PMID:28492532|PMID:29276006|PMID:29907801|PMID:30311386|PMID:30692697|PMID:30732632|PMID:31446693|PMID:31722741|PMID:32164556|PMID:33258288
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9002916	Hyperphagia		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Polyphagia	PMID:24451042|PMID:25741868|PMID:28492532|PMID:33726816|PMID:34136434|PMID:40127276
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9002969	Nevus		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus	PMID:25741868
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9003091	Noonan Like Syndrome		ISO	RGD:731746	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.D106A, p.F285L (human)	PMID:15996221|REF_RGD_ID:11064737
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9003133	Hypertelorism		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14982869|PMID:15001945|PMID:15121796|PMID:15248152|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15761018|PMID:15834506|PMID:15889278|PMID:15928039|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16643459|PMID:16733669|PMID:16804314|PMID:16990350|PMID:17020470|PMID:1733916|PMID:17339163|PMID:17453145|PMID:17497712|PMID:17661820|PMID:17875892|PMID:17972951|PMID:18241070|PMID:18286234|PMID:18470943|PMID:18505544|PMID:18678287|PMID:18758896|PMID:18854871|PMID:19020799|PMID:19047918|PMID:19077116|PMID:19179468|PMID:19273734|PMID:19582499|PMID:19621452|PMID:19659470|PMID:19681119|PMID:19737548|PMID:19835954|PMID:20186801|PMID:20301303|PMID:20301557|PMID:20493809|PMID:2057894|PMID:20718194|PMID:20954246|PMID:21204800|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21677813|PMID:21784453|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22142829|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22711529|PMID:22781091|PMID:23321623|PMID:23334668|PMID:23513489|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24219368|PMID:24436047|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24754368|PMID:24790373|PMID:24803665|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25337068|PMID:25359717|PMID:25395418|PMID:25533962|PMID:25595571|PMID:25708222|PMID:25724491|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25937001|PMID:26084119|PMID:26138366|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27276561|PMID:27993330|PMID:28328117|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28912153|PMID:28966033|PMID:28973083|PMID:29263817|PMID:29493581|PMID:29602897|PMID:29763623|PMID:29907801|PMID:30055033|PMID:30105547|PMID:30311386|PMID:30410095|PMID:30417923|PMID:30692697|PMID:30732632|PMID:30896080|PMID:31219622|PMID:31259454|PMID:31292302|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32561839|PMID:32573669|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32901917|PMID:33318624|PMID:33776629|PMID:34008892|PMID:34166060|PMID:34850017|PMID:34988410|PMID:35050212|PMID:35101336|PMID:35325944|PMID:35697228|PMID:35885957|PMID:36304179|PMID:36349709|PMID:36496429|PMID:38374194|PMID:38540404|PMID:39392019|PMID:39596579|PMID:9491886
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9003145	Nuchal Bleb, Familial		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Fetal cystic hygroma	PMID:11992261|PMID:12634870|PMID:14644997|PMID:14961557|PMID:15121796|PMID:15723289|PMID:15928039|PMID:15987685|PMID:16358218|PMID:18470943|PMID:20301557|PMID:20954246|PMID:22528600|PMID:23321623|PMID:24033266|PMID:24628801|PMID:24935154|PMID:25331952|PMID:25741868|PMID:25937001|PMID:26742426|PMID:28492532|PMID:30266093|PMID:31219622|PMID:32164556|PMID:32627857|PMID:34358384
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9003417	Menorrhagia		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Menorrhagia	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9003507	Premature Birth		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:11704759|PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15248152|PMID:15723289|PMID:15761018|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17661820|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:20718194|PMID:21340158|PMID:21365683|PMID:21533187|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23726368|PMID:24033266|PMID:24451042|PMID:24628801|PMID:24935154|PMID:25595571|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26467025|PMID:26817465|PMID:26822237|PMID:27353043|PMID:28074573|PMID:28492532|PMID:29493581|PMID:29758562|PMID:30602027|PMID:32233106|PMID:32719394|PMID:34006472|PMID:34850017|PMID:34988410|PMID:35101336|PMID:35396703|PMID:38540404|PMID:39596579|PMID:9491886
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9003591	Telecanthus		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9003748	Thumb Deformity		ISO	RGD:731746	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Thumb deformity	PMID:11992261|PMID:12161469|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15009076|PMID:15240615|PMID:15385933|PMID:15539800|PMID:15689434|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15928039|PMID:15948193|PMID:15987685|PMID:15996221|PMID:16115145|PMID:16124853|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17910045|PMID:17972951|PMID:18331608|PMID:18454468|PMID:18470943|PMID:18678287|PMID:18854871|PMID:19063751|PMID:19120036|PMID:20237506|PMID:20301303|PMID:20383758|PMID:22465605|PMID:23446178|PMID:23771920|PMID:23832011|PMID:24033266|PMID:24183200|PMID:24718990|PMID:25097206|PMID:25741868|PMID:26286251|PMID:26918529|PMID:27521173|PMID:28492532|PMID:29493581|PMID:30417923|PMID:31560489|PMID:32164556|PMID:32565546|PMID:33300679|PMID:36304179
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9003760	Myalgia		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9003816	Macrocephaly		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:15520399|PMID:15690106|PMID:15889278|PMID:15948193|PMID:16358218|PMID:16638574|PMID:20308328|PMID:20578946|PMID:21677813|PMID:21910226|PMID:22058153|PMID:22488759|PMID:24033266|PMID:25708222|PMID:25741868|PMID:27193571|PMID:28492532
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9004014	Adducted Thumbs Syndrome		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumbs, congenital Clasped	PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15987685|PMID:16358218|PMID:16892325|PMID:16990350|PMID:17661820|PMID:18372317|PMID:21590266|PMID:22190897|PMID:22781091|PMID:23584145|PMID:24033266|PMID:25425531|PMID:25741868|PMID:25862627|PMID:27993330|PMID:28483241|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29300386|PMID:29763623|PMID:29988639|PMID:30050098|PMID:30417923|PMID:31560489|PMID:35697228
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9004108	Fused Kidney		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	PMID:11992261|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15385933|PMID:15710330|PMID:15987685|PMID:16358218|PMID:16990350|PMID:17020470|PMID:1733916|PMID:17339163|PMID:17972951|PMID:18286234|PMID:18470943|PMID:19047918|PMID:19077116|PMID:19179468|PMID:19835954|PMID:21204800|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:27276561|PMID:28492532|PMID:29907801|PMID:30410095|PMID:31292302|PMID:32164556|PMID:32561839
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15928039|PMID:16358218|PMID:16377799|PMID:18470943|PMID:18678287|PMID:18758896|PMID:19077116|PMID:19568997|PMID:19737548|PMID:20186801|PMID:21533187|PMID:22465605|PMID:22681964|PMID:23334668|PMID:24033266|PMID:24754368|PMID:24935154|PMID:25097206|PMID:25741868|PMID:25742478|PMID:26918529|PMID:28492532|PMID:29146883|PMID:29907801|PMID:30417923|PMID:31560489|PMID:34008892|PMID:9491886
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9004441	Experimental Leukemia		ISO	RGD:731746	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:32417439
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9004538	Hearing Loss		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss	PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14634749|PMID:14644997|PMID:14982869|PMID:14991917|PMID:15001945|PMID:15121796|PMID:15385933|PMID:15389709|PMID:15520399|PMID:15710330|PMID:15712196|PMID:15834506|PMID:15928039|PMID:15985475|PMID:16053901|PMID:16172598|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16498234|PMID:16638574|PMID:16643459|PMID:16679933|PMID:16804314|PMID:17020470|PMID:17053061|PMID:17453145|PMID:17497712|PMID:17546245|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18328949|PMID:18372317|PMID:18470943|PMID:18562489|PMID:18678287|PMID:18849586|PMID:19020799|PMID:19047918|PMID:19077116|PMID:19179468|PMID:19621452|PMID:19725129|PMID:19768645|PMID:20186801|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20543023|PMID:21339643|PMID:21407260|PMID:21533187|PMID:21747628|PMID:22420426|PMID:22465605|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:23624134|PMID:23673659|PMID:23771920|PMID:23817572|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24718990|PMID:24775816|PMID:24803665|PMID:2482075|PMID:24820750|PMID:24891296|PMID:24935154|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25337068|PMID:25395418|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26242988|PMID:26337637|PMID:26377839|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:26918529|PMID:27038324|PMID:27104176|PMID:27276561|PMID:27521173|PMID:27993330|PMID:28328117|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28748642|PMID:28912153|PMID:29263817|PMID:29276006|PMID:29493581|PMID:29602897|PMID:29758562|PMID:29907801|PMID:30055033|PMID:30105547|PMID:30311386|PMID:30417923|PMID:30541462|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30896080|PMID:31219622|PMID:31259454|PMID:31446693|PMID:31560489|PMID:31722741|PMID:32164556|PMID:32371413|PMID:32561839|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32901917|PMID:33258288|PMID:33318624|PMID:33568805|PMID:34008892|PMID:34143244|PMID:35325944|PMID:38540404
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:11992261|PMID:12634870|PMID:15001945|PMID:15956085|PMID:16358218|PMID:16804314|PMID:18678287|PMID:19077116|PMID:19125092|PMID:19260062|PMID:20030748|PMID:20301303|PMID:21204800|PMID:21533187|PMID:21590266|PMID:22465605|PMID:22551697|PMID:24033266|PMID:24935154|PMID:25741868|PMID:26918529|PMID:28492532|PMID:29493581|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9004730	Romano-Ward Syndrome		ISO	RGD:731746	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:14644997|PMID:14961557|PMID:15121796|PMID:15723289|PMID:15928039|PMID:15987685|PMID:16358218|PMID:18470943|PMID:20301557|PMID:20954246|PMID:22528600|PMID:24033266|PMID:24628801|PMID:24935154|PMID:25741868|PMID:25937001|PMID:26742426|PMID:28492532|PMID:31219622|PMID:32164556
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9005077	Joint Instability		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15520399|PMID:15690106|PMID:15834506|PMID:15889278|PMID:15928039|PMID:15948193|PMID:16358218|PMID:16498234|PMID:16638574|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:20308328|PMID:20578946|PMID:21407260|PMID:21533187|PMID:21677813|PMID:21910226|PMID:22058153|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25708222|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:27193571|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29696744|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:731746	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:25741868
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9005193	Osteochondroma		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Osteochondroma	PMID:11992261|PMID:15121796|PMID:16523510|PMID:17339163|PMID:17875892|PMID:18241070|PMID:18505544|PMID:19737548|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:28492532|PMID:33776629
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9005369	Hepatomegaly		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15121796|PMID:15240615|PMID:15520399|PMID:15604238|PMID:15690106|PMID:15889278|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:16523510|PMID:16733669|PMID:17020470|PMID:17339163|PMID:17875892|PMID:18241070|PMID:18505544|PMID:19020799|PMID:19077116|PMID:19273734|PMID:19352411|PMID:19582499|PMID:19737548|PMID:20301557|PMID:2057894|PMID:20954246|PMID:21407260|PMID:21533187|PMID:21677813|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22190897|PMID:22465605|PMID:22711529|PMID:22781091|PMID:23673659|PMID:24033266|PMID:24935154|PMID:25359717|PMID:25533962|PMID:25708222|PMID:25724491|PMID:25741868|PMID:26742426|PMID:26817465|PMID:28492532|PMID:28973083|PMID:29493581|PMID:29555671|PMID:29907801|PMID:30732632|PMID:31560489|PMID:32164556|PMID:33776629|PMID:35050212
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9005532	Muscle Weakness		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:11992261|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15385933|PMID:15520399|PMID:15690106|PMID:15710330|PMID:15889278|PMID:15948193|PMID:15987685|PMID:16358218|PMID:16518851|PMID:16638574|PMID:16990350|PMID:17020470|PMID:17339163|PMID:17972951|PMID:18286234|PMID:18470943|PMID:19047918|PMID:19077116|PMID:19179468|PMID:19582499|PMID:19681119|PMID:19835954|PMID:20308328|PMID:20578946|PMID:21204800|PMID:21533187|PMID:21677813|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22142829|PMID:22465605|PMID:22488759|PMID:23312806|PMID:24033266|PMID:24150203|PMID:24436047|PMID:24775816|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25395418|PMID:25708222|PMID:25741868|PMID:26138366|PMID:26817465|PMID:27193571|PMID:27276561|PMID:27993330|PMID:28125078|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30732632|PMID:30919686|PMID:31560489|PMID:32164556|PMID:32561839|PMID:33318624|PMID:34166060|PMID:35248088|PMID:35979676
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:11992261|PMID:15520399|PMID:15690106|PMID:15889278|PMID:15948193|PMID:16518851|PMID:19582499|PMID:19681119|PMID:21533187|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22142829|PMID:22465605|PMID:23312806|PMID:24150203|PMID:24436047|PMID:24451042|PMID:24775816|PMID:24935154|PMID:24939587|PMID:25741868|PMID:26138366|PMID:26817465|PMID:27993330|PMID:28125078|PMID:28492532|PMID:30311386|PMID:30732632|PMID:30919686|PMID:31560489|PMID:33318624|PMID:33726816|PMID:34136434|PMID:34166060|PMID:34704406|PMID:35248088|PMID:35979676|PMID:37302266|PMID:38515811|PMID:40127276
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:11992261|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14982869|PMID:15001945|PMID:15385933|PMID:15520399|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15889278|PMID:15948193|PMID:15985475|PMID:15987685|PMID:16358218|PMID:16638574|PMID:16804314|PMID:16990350|PMID:17020470|PMID:1733916|PMID:17339163|PMID:17972951|PMID:18286234|PMID:18470943|PMID:19047918|PMID:19077116|PMID:19179468|PMID:19835954|PMID:20186801|PMID:20308328|PMID:20578946|PMID:21204800|PMID:21407260|PMID:21533187|PMID:21677813|PMID:21910226|PMID:22058153|PMID:22465605|PMID:22488759|PMID:22781091|PMID:23624134|PMID:24033266|PMID:24451042|PMID:24803665|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25708222|PMID:25741868|PMID:25862627|PMID:27193571|PMID:27276561|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:31292302|PMID:32164556|PMID:32561839|PMID:32737134|PMID:33726816|PMID:34136434|PMID:40127276
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9005883	Pleural Effusion		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pleural effusion	PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15240615|PMID:15385933|PMID:15604238|PMID:15710330|PMID:15834506|PMID:15928039|PMID:15985475|PMID:16115145|PMID:16263833|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17910045|PMID:17972951|PMID:18470943|PMID:19020799|PMID:19047918|PMID:19077116|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:23832011|PMID:24033266|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25533962|PMID:25741868|PMID:26242988|PMID:26817465|PMID:27030275|PMID:27069254|PMID:27276561|PMID:27521173|PMID:27993330|PMID:28084675|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29493581|PMID:29555671|PMID:29763623|PMID:29907801|PMID:31560489|PMID:31941532|PMID:32164556|PMID:35441720|PMID:35697228
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:11704759|PMID:15834506|PMID:19077116|PMID:20852937|PMID:21407260|PMID:22959829|PMID:23917401|PMID:24033266|PMID:25741868|PMID:26817465|PMID:28492532|PMID:28748642|PMID:31560489|PMID:31573083|PMID:34006472
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Right ventricular hypertrophy	PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:17339163|PMID:19020799|PMID:19077116|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29493581|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:3447	D	RGD:9068941	20201001	RGD		protein:increased expression:aorta tunica intima, aorta tunica media	PMID:12117720|REF_RGD_ID:39456082
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14961557|PMID:15001945|PMID:15121796|PMID:15240615|PMID:15604238|PMID:15723289|PMID:15834506|PMID:15928039|PMID:15985475|PMID:15987685|PMID:16263833|PMID:16358218|PMID:16498234|PMID:17020470|PMID:17339163|PMID:17497712|PMID:18470943|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19621452|PMID:20301303|PMID:20301557|PMID:20954246|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22528600|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25533962|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25937001|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26742426|PMID:26817465|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29555671|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9006617	Fatigue		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9007033	Ventricular Premature Complexes		ISO	RGD:731746	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature ventricular contraction	PMID:25741868|PMID:28492532
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731746	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24628801|PMID:24803665|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26785492|PMID:26817465|PMID:27117572|PMID:27521173|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:29493581|PMID:30604644|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731746	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731746	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20301303|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25741909|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32164556|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731746	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20301303|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32164556|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:34194850|PMID:34411415|PMID:4746100
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731746	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14644997|PMID:14974085|PMID:15001945|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15928039|PMID:15929108|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16358218|PMID:16399795|PMID:16498234|PMID:17497712|PMID:17515436|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19352411|PMID:19509418|PMID:20301303|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22420426|PMID:22427542|PMID:22465605|PMID:22711529|PMID:23297836|PMID:23624134|PMID:23726368|PMID:23771920|PMID:24033266|PMID:24037001|PMID:24072241|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25326637|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25912702|PMID:26084119|PMID:26242988|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26527198|PMID:26607044|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27038324|PMID:27104176|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30055033|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30417923|PMID:30604644|PMID:30692697|PMID:31219622|PMID:31292302|PMID:31560489|PMID:31637070|PMID:32164556|PMID:32371413|PMID:32581362|PMID:32860008|PMID:32901917|PMID:33091040|PMID:33258285|PMID:33300679|PMID:34008892|PMID:34194850|PMID:34411415|PMID:34974531|PMID:35418823|PMID:35904599|PMID:36135330|PMID:36474027|PMID:36939041|PMID:37493574|PMID:37525886|PMID:37605180|PMID:37987971|PMID:4746100|PMID:9295268
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9007366	Pulmonary Artery Stenosis		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonary artery stenosis	PMID:11992261|PMID:12325025|PMID:14644997|PMID:15385933|PMID:15710330|PMID:15834506|PMID:15928039|PMID:16115145|PMID:16358218|PMID:17020470|PMID:17910045|PMID:17972951|PMID:18470943|PMID:19020799|PMID:19047918|PMID:21533187|PMID:22465605|PMID:23832011|PMID:24033266|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26242988|PMID:27030275|PMID:27069254|PMID:27276561|PMID:27521173|PMID:27993330|PMID:28084675|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29763623|PMID:31941532|PMID:32164556|PMID:35441720|PMID:35697228
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:731746	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	PMID:11992261|PMID:14644997|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15710330|PMID:16377799|PMID:16518851|PMID:17972951|PMID:19047918|PMID:19659470|PMID:19681119|PMID:20301557|PMID:20493809|PMID:21533187|PMID:21784453|PMID:22142829|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23321623|PMID:23799168|PMID:24033266|PMID:24436047|PMID:24718990|PMID:24790373|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26138366|PMID:26918529|PMID:27069254|PMID:27276561|PMID:27993330|PMID:28483241|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29763623|PMID:29907801|PMID:32573669|PMID:34166060|PMID:35697228|PMID:35885957|PMID:36304179
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neoplasm of brain	PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15928039|PMID:16358218|PMID:16377799|PMID:18470943|PMID:18678287|PMID:18758896|PMID:19077116|PMID:19568997|PMID:19737548|PMID:20186801|PMID:21533187|PMID:22465605|PMID:22681964|PMID:23334668|PMID:24033266|PMID:24754368|PMID:24935154|PMID:25097206|PMID:25741868|PMID:25742478|PMID:26918529|PMID:28492532|PMID:29146883|PMID:29907801|PMID:30417923|PMID:31560489|PMID:34008892|PMID:9491886
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9007559	Thyroglossal Cyst		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroglossal cyst	PMID:11992261|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15385933|PMID:15710330|PMID:15987685|PMID:16358218|PMID:16990350|PMID:17020470|PMID:1733916|PMID:17339163|PMID:17972951|PMID:18286234|PMID:18470943|PMID:19047918|PMID:19077116|PMID:19179468|PMID:19835954|PMID:21204800|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:27276561|PMID:28492532|PMID:29907801|PMID:30410095|PMID:31292302|PMID:32164556|PMID:32561839
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9007573	Flatfoot		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Calcaneovalgus deformity	PMID:11704759|PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15248152|PMID:15723289|PMID:15761018|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17661820|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:20718194|PMID:21340158|PMID:21533187|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23726368|PMID:24033266|PMID:24451042|PMID:24628801|PMID:24935154|PMID:25595571|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26817465|PMID:26822237|PMID:28492532|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9007661	Dwarfism		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15604238|PMID:15689434|PMID:15710330|PMID:15723289|PMID:15761018|PMID:15834506|PMID:15928039|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16498234|PMID:16643459|PMID:16804314|PMID:16892325|PMID:16990350|PMID:17020470|PMID:17053061|PMID:17339163|PMID:17497712|PMID:17546245|PMID:17661820|PMID:17972951|PMID:18328949|PMID:18372317|PMID:18470943|PMID:18562489|PMID:18678287|PMID:18758896|PMID:18854871|PMID:19020799|PMID:19047918|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19179468|PMID:19260062|PMID:19352411|PMID:19568997|PMID:19621452|PMID:19737548|PMID:20030748|PMID:20186801|PMID:20301303|PMID:20718194|PMID:21204800|PMID:21340158|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21590266|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22551697|PMID:22681964|PMID:22711529|PMID:22781091|PMID:23334668|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24183200|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24754368|PMID:24803665|PMID:24935154|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25337068|PMID:25395418|PMID:25425531|PMID:25533962|PMID:25595571|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25804457|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27104176|PMID:27276561|PMID:27353043|PMID:27521173|PMID:27993330|PMID:28074573|PMID:28328117|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28912153|PMID:28966033|PMID:29146883|PMID:29300386|PMID:29493581|PMID:29555671|PMID:29758562|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30050098|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30602027|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32561839|PMID:32565546|PMID:32719394|PMID:32901917|PMID:33300679|PMID:34006472|PMID:34008892|PMID:34850017|PMID:34988410|PMID:35101336|PMID:35396703|PMID:35697228|PMID:36304179|PMID:36349709|PMID:36496429|PMID:37600658|PMID:38374194|PMID:38540404|PMID:39392019|PMID:39596579|PMID:9491886|PMID:9751050
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9008023	Memory Disorders		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:24451042|PMID:25741868|PMID:28492532|PMID:33726816|PMID:34136434|PMID:40127276
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay | ClinVar Annotator: match by term: global developmental delay	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14676626|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15690106|PMID:15710330|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16115145|PMID:16124853|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16518851|PMID:16523510|PMID:16804314|PMID:16987887|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17972951|PMID:18241070|PMID:18331608|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18678287|PMID:18759865|PMID:18854871|PMID:19020799|PMID:19047918|PMID:19063751|PMID:19077116|PMID:19179468|PMID:19582499|PMID:19621452|PMID:19681119|PMID:19768645|PMID:20237506|PMID:20301557|PMID:20383758|PMID:20718194|PMID:21106241|PMID:21340158|PMID:21533187|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21934682|PMID:22058153|PMID:22142829|PMID:22190897|PMID:22465605|PMID:22681964|PMID:22781091|PMID:22923420|PMID:23312806|PMID:23321623|PMID:23446178|PMID:23726368|PMID:23771920|PMID:23817572|PMID:23832011|PMID:24033266|PMID:24150203|PMID:24183200|PMID:24436047|PMID:24451042|PMID:24628801|PMID:24718990|PMID:24775816|PMID:24803665|PMID:24891296|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25395418|PMID:25500235|PMID:25544017|PMID:25595571|PMID:25612910|PMID:25741868|PMID:25741869|PMID:25804457|PMID:26138366|PMID:26286251|PMID:26467025|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27069254|PMID:27153395|PMID:27276561|PMID:27562378|PMID:27993330|PMID:28051113|PMID:28125078|PMID:28328117|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29356064|PMID:29493581|PMID:29693080|PMID:29763623|PMID:29907801|PMID:30311386|PMID:30417923|PMID:30732632|PMID:30919686|PMID:31219622|PMID:31370276|PMID:31560489|PMID:32164556|PMID:32561839|PMID:32668031|PMID:32746448|PMID:33318624|PMID:34008892|PMID:34166060|PMID:34303558|PMID:34308104|PMID:34704406|PMID:34850017|PMID:34988410|PMID:35101336|PMID:35248088|PMID:35697228|PMID:35979676|PMID:36567979|PMID:37302266|PMID:37600658|PMID:38515811|PMID:38540404|PMID:39596579|PMID:39669259|PMID:40225944
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14676626|PMID:15001945|PMID:15009076|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15690106|PMID:15710330|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16115145|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16638574|PMID:16804314|PMID:16990350|PMID:17020470|PMID:17222357|PMID:17227708|PMID:1733916|PMID:17339163|PMID:17546245|PMID:17661820|PMID:17910045|PMID:17972951|PMID:18286234|PMID:18331608|PMID:18454468|PMID:18470943|PMID:18678287|PMID:18758896|PMID:18759865|PMID:18854871|PMID:19020799|PMID:19047918|PMID:19063751|PMID:19077116|PMID:19179468|PMID:19621452|PMID:19737548|PMID:19835954|PMID:20237506|PMID:20301303|PMID:20308328|PMID:20383758|PMID:20578946|PMID:20718194|PMID:21106241|PMID:21204800|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21677813|PMID:21784453|PMID:21901340|PMID:21910226|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22465605|PMID:22488759|PMID:22681964|PMID:22781091|PMID:22923420|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23513489|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23817572|PMID:23832011|PMID:24033266|PMID:24183200|PMID:24451042|PMID:24628801|PMID:24718990|PMID:24754368|PMID:24803665|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25500235|PMID:25533962|PMID:25595571|PMID:25612910|PMID:25708222|PMID:25741868|PMID:25741869|PMID:25804457|PMID:26286251|PMID:26467025|PMID:26785492|PMID:26817465|PMID:26822237|PMID:27030275|PMID:27153395|PMID:27193571|PMID:27276561|PMID:27993330|PMID:28051113|PMID:28328117|PMID:28492532|PMID:28628100|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30410095|PMID:30732632|PMID:31219622|PMID:31292302|PMID:31560489|PMID:32164556|PMID:32561839|PMID:32668031|PMID:34303558|PMID:34308104|PMID:34850017|PMID:34988410|PMID:35101336|PMID:37600658|PMID:38540404|PMID:39596579|PMID:9491886
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9008114	Helicobacter Infections	susceptibility	ISO	RGD:731746	D	RGD:9068941	20201001	RGD		DNA:SNP:intron: rs2301756(human)	PMID:19589142|REF_RGD_ID:39128247
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:731746	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:11992261|PMID:12161469|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15009076|PMID:15240615|PMID:15385933|PMID:15539800|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15928039|PMID:15948193|PMID:15987685|PMID:16115145|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17910045|PMID:17972951|PMID:18331608|PMID:18454468|PMID:19063751|PMID:20237506|PMID:20383758|PMID:22465605|PMID:23446178|PMID:23832011|PMID:24033266|PMID:24718990|PMID:25097206|PMID:25741868|PMID:26286251|PMID:28492532|PMID:29493581|PMID:32164556
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis	PMID:11992261|PMID:12161469|PMID:15240615|PMID:15834506|PMID:15842656|PMID:16263833|PMID:16358218|PMID:16518851|PMID:16643459|PMID:1672296|PMID:17020470|PMID:18223690|PMID:18470943|PMID:18701506|PMID:18759865|PMID:19020799|PMID:19621452|PMID:19681119|PMID:20112233|PMID:21106241|PMID:21407260|PMID:21465649|PMID:21784453|PMID:21901340|PMID:22097954|PMID:22142829|PMID:22465605|PMID:22681964|PMID:23321623|PMID:23771920|PMID:23817572|PMID:24039098|PMID:24150203|PMID:24183200|PMID:24436047|PMID:25097206|PMID:25253770|PMID:2564168|PMID:2572450|PMID:25741868|PMID:26138366|PMID:26242988|PMID:26817465|PMID:27030275|PMID:27521173|PMID:27959697|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29907801|PMID:30097824|PMID:30375388|PMID:30732632|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32164789|PMID:32188694|PMID:32668031|PMID:32806529|PMID:34166060|PMID:34303558
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9008606	Corneal Opacity		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Corneal opacity	PMID:15520399|PMID:15690106|PMID:15889278|PMID:15948193|PMID:16358218|PMID:16638574|PMID:20308328|PMID:20578946|PMID:21677813|PMID:21910226|PMID:22058153|PMID:22488759|PMID:24033266|PMID:25708222|PMID:25741868|PMID:27193571|PMID:28492532
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9009021	Plagiocephaly		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:11992261|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14982869|PMID:15001945|PMID:15385933|PMID:15710330|PMID:15712196|PMID:15985475|PMID:15987685|PMID:16358218|PMID:16804314|PMID:16990350|PMID:17020470|PMID:1733916|PMID:17339163|PMID:17972951|PMID:18286234|PMID:18470943|PMID:19047918|PMID:19077116|PMID:19179468|PMID:19835954|PMID:20186801|PMID:21204800|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22781091|PMID:23624134|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25741868|PMID:25862627|PMID:27276561|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:31292302|PMID:32164556|PMID:32561839|PMID:32737134
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9009050	Hypocalcemia		ISO	RGD:731746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731746	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:27992414
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:930	orbital disease		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:11992261|PMID:15121796|PMID:16523510|PMID:17339163|PMID:17875892|PMID:18241070|PMID:18505544|PMID:19737548|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:28492532|PMID:33776629
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9410	combined pituitary hormone deficiency		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Panhypopituitarism	PMID:11992261|PMID:14982869|PMID:15001945|PMID:15712196|PMID:15985475|PMID:16358218|PMID:16804314|PMID:17020470|PMID:18470943|PMID:19077116|PMID:20186801|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22781091|PMID:23624134|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25741868|PMID:25862627|PMID:28492532|PMID:30311386|PMID:32737134
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9834	hyperopia		ISO	RGD:731746	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:11992261|PMID:12717436|PMID:15689434|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17339163|PMID:18470943|PMID:18678287|PMID:18854871|PMID:19120036|PMID:20301303|PMID:23771920|PMID:24033266|PMID:24183200|PMID:25741868|PMID:26918529|PMID:27521173|PMID:28492532|PMID:30417923|PMID:31560489|PMID:32164556|PMID:32565546|PMID:33300679|PMID:36304179
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9884	muscular dystrophy		ISO	RGD:731746	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:11992261|PMID:12960218|PMID:16358218|PMID:18678287|PMID:18758896|PMID:19077116|PMID:19737548|PMID:20301303|PMID:21533187|PMID:23756559|PMID:24754368|PMID:24935154|PMID:25741868|PMID:26785492|PMID:28492532
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9970	obesity		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:24451042|PMID:25741868|PMID:28492532|PMID:33726816|PMID:34136434|PMID:40127276
8703700	Ptpn11	protein tyrosine phosphatase non-receptor type 11	gene	DOID:9993	hypoglycemia		ISO	RGD:731746	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:15520399|PMID:15690106|PMID:15889278|PMID:16358218|PMID:16733669|PMID:18241070|PMID:18505544|PMID:19077116|PMID:19273734|PMID:19582499|PMID:20301557|PMID:2057894|PMID:20954246|PMID:21677813|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22190897|PMID:22781091|PMID:23673659|PMID:24033266|PMID:24935154|PMID:25359717|PMID:25708222|PMID:25724491|PMID:25741868|PMID:26742426|PMID:28492532|PMID:28973083|PMID:30732632|PMID:35050212
8703700	Ptpn11	protein tyrosine phosphatase, non-receptor type 11	gene	DOID:9000109	Haemophilus Infections		ISO	RGD:731747	D	RGD:9068941	20201001	RGD			PMID:27330052|REF_RGD_ID:39131287
8703728	Rrbp1	ribosome binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8703728	Rrbp1	ribosome binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703728	Rrbp1	ribosome binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8703728	Rrbp1	ribosome binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8703728	Rrbp1	ribosome binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8703728	Rrbp1	ribosome binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8703728	Rrbp1	ribosome binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8703728	Rrbp1	ribosome binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8703728	Rrbp1	ribosome binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8703728	Rrbp1	ribosome binding protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8703728	Rrbp1	ribosome binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8703728	Rrbp1	ribosome binding protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8703728	Rrbp1	ribosome binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315209	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8703728	Rrbp1	ribosome binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703728	Rrbp1	ribosome binding protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8703728	Rrbp1	ribosome binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8703728	Rrbp1	ribosome binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8703728	Rrbp1	ribosome binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8703756	Bche	butyrylcholinesterase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:732174	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:10446378|PMID:12724618|PMID:12881446|PMID:13437188|PMID:13479831|PMID:14404182|PMID:15731589|PMID:16103129|PMID:17166756|PMID:1897345|PMID:2013061|PMID:20879632|PMID:21029050|PMID:21228368|PMID:21637541|PMID:22053728|PMID:23123771|PMID:25054547|PMID:25264279|PMID:25448037|PMID:25741868|PMID:26439437|PMID:27031121|PMID:27551784|PMID:28492532|PMID:2915989|PMID:30487145|PMID:30600548|PMID:30804560|PMID:31702488|PMID:3542989|PMID:6267958|PMID:8390770|PMID:9047329
8703756	Bche	butyrylcholinesterase	gene	DOID:0050655	Bamforth-Lazarus syndrome		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16884476
8703756	Bche	butyrylcholinesterase	gene	DOID:0050784	primary progressive multiple sclerosis		ISO	RGD:732174	D	RGD:9068941	20200609	RGD			PMID:20122907|REF_RGD_ID:5687690
8703756	Bche	butyrylcholinesterase	gene	DOID:0050847	sleep apnea		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18555211
8703756	Bche	butyrylcholinesterase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703756	Bche	butyrylcholinesterase	gene	DOID:0051061	stroke		ISO	RGD:732174	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20464061|REF_RGD_ID:5688131
8703756	Bche	butyrylcholinesterase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:732174	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8703756	Bche	butyrylcholinesterase	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:732175	D	RGD:9068941	20200609	RGD			PMID:12383920|REF_RGD_ID:5688132
8703756	Bche	butyrylcholinesterase	gene	DOID:10113	trypanosomiasis		ISO	RGD:619996	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:20138875|REF_RGD_ID:5687328
8703756	Bche	butyrylcholinesterase	gene	DOID:10534	stomach cancer		ISO	RGD:732174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8703756	Bche	butyrylcholinesterase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23022600
8703756	Bche	butyrylcholinesterase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732174	D	RGD:9068941	20200609	RGD			PMID:22012848|REF_RGD_ID:5687327
8703756	Bche	butyrylcholinesterase	gene	DOID:10652	Alzheimer's disease	severity	ISO	RGD:732174	D	RGD:9068941	20200609	RGD			PMID:16973370|REF_RGD_ID:5688056
8703756	Bche	butyrylcholinesterase	gene	DOID:10763	hypertension		ISO	RGD:732174	D	RGD:9068941	20200609	RGD			PMID:12387587|REF_RGD_ID:1601322
8703756	Bche	butyrylcholinesterase	gene	DOID:10914	amnestic disorder		ISO	RGD:619996	D	RGD:9068941	20200609	RGD			PMID:21771623|REF_RGD_ID:5688134
8703756	Bche	butyrylcholinesterase	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:732174	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15219807|REF_RGD_ID:1601321
8703756	Bche	butyrylcholinesterase	gene	DOID:11830	myopia		ISO	RGD:732174	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:10446378|PMID:12724618|PMID:12881446|PMID:13437188|PMID:13479831|PMID:14404182|PMID:15731589|PMID:16103129|PMID:17166756|PMID:1897345|PMID:2013061|PMID:20879632|PMID:21029050|PMID:21228368|PMID:21637541|PMID:22053728|PMID:23123771|PMID:25054547|PMID:25264279|PMID:25448037|PMID:25741868|PMID:26439437|PMID:27031121|PMID:27551784|PMID:28492532|PMID:2915989|PMID:30487145|PMID:30600548|PMID:30804560|PMID:31702488|PMID:3542989|PMID:6267958|PMID:8390770|PMID:9047329
8703756	Bche	butyrylcholinesterase	gene	DOID:11832	visual epilepsy		ISO	RGD:732174	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: therapeutic	PMID:18597747|PMID:20971807|PMID:8667461
8703756	Bche	butyrylcholinesterase	gene	DOID:12858	Huntington's disease		ISO	RGD:732174	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebrospinal fluid	PMID:2953866|REF_RGD_ID:5688127
8703756	Bche	butyrylcholinesterase	gene	DOID:1307	dementia		ISO	RGD:732174	D	RGD:9068941	20200609	RGD		associated with Parkinson Disease;protein:increased expression:cerebrospinal fluid	PMID:2953866|REF_RGD_ID:5688127
8703756	Bche	butyrylcholinesterase	gene	DOID:1324	lung cancer		ISO	RGD:732174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8703756	Bche	butyrylcholinesterase	gene	DOID:13548	secondary Parkinson disease		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30410011
8703756	Bche	butyrylcholinesterase	gene	DOID:1561	cognitive disorder		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:12003252|PMID:20513442
8703756	Bche	butyrylcholinesterase	gene	DOID:1596	depressive disorder		ISO	RGD:732174	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Depression	PMID:10446378|PMID:12724618|PMID:12881446|PMID:13437188|PMID:13479831|PMID:14404182|PMID:15731589|PMID:16103129|PMID:17166756|PMID:1897345|PMID:2013061|PMID:20879632|PMID:21029050|PMID:21228368|PMID:21637541|PMID:22053728|PMID:23123771|PMID:25054547|PMID:25264279|PMID:25448037|PMID:25741868|PMID:26439437|PMID:27031121|PMID:27551784|PMID:28492532|PMID:2915989|PMID:30487145|PMID:30600548|PMID:30804560|PMID:31702488|PMID:3542989|PMID:6267958|PMID:8390770|PMID:9047329
8703756	Bche	butyrylcholinesterase	gene	DOID:1826	epilepsy		ISO	RGD:732174	D	RGD:9068941	20200609	RGD			PMID:7634486|REF_RGD_ID:5688133
8703756	Bche	butyrylcholinesterase	gene	DOID:2030	anxiety disorder		ISO	RGD:732174	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:10446378|PMID:12724618|PMID:12881446|PMID:13437188|PMID:13479831|PMID:14404182|PMID:15731589|PMID:16103129|PMID:17166756|PMID:1897345|PMID:2013061|PMID:20879632|PMID:21029050|PMID:21228368|PMID:21637541|PMID:22053728|PMID:23123771|PMID:25054547|PMID:25264279|PMID:25448037|PMID:25741868|PMID:26439437|PMID:27031121|PMID:27551784|PMID:28492532|PMID:2915989|PMID:30487145|PMID:30600548|PMID:30804560|PMID:31702488|PMID:3542989|PMID:6267958|PMID:8390770|PMID:9047329
8703756	Bche	butyrylcholinesterase	gene	DOID:2297	leptospirosis		ISO	RGD:619996	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21921108|REF_RGD_ID:5688128
8703756	Bche	butyrylcholinesterase	gene	DOID:2377	multiple sclerosis		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20122907
8703756	Bche	butyrylcholinesterase	gene	DOID:3068	glioblastoma		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2317787
8703756	Bche	butyrylcholinesterase	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:732174	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.A539T (human)	PMID:17852836|REF_RGD_ID:2306777
8703756	Bche	butyrylcholinesterase	gene	DOID:3602	toxic encephalopathy		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21620937
8703756	Bche	butyrylcholinesterase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8703756	Bche	butyrylcholinesterase	gene	DOID:4247	coronary restenosis	susceptibility	ISO	RGD:732174	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.A539T (human)	PMID:17275003|REF_RGD_ID:2306778
8703756	Bche	butyrylcholinesterase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18482720
8703756	Bche	butyrylcholinesterase	gene	DOID:5419	schizophrenia		ISO	RGD:732174	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:22123563|REF_RGD_ID:5687326
8703756	Bche	butyrylcholinesterase	gene	DOID:543	dystonia		ISO	RGD:732174	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:2953866|REF_RGD_ID:5688127
8703756	Bche	butyrylcholinesterase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703756	Bche	butyrylcholinesterase	gene	DOID:630	genetic disease		ISO	RGD:732174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8703756	Bche	butyrylcholinesterase	gene	DOID:655	inherited metabolic disorder	susceptibility	ISO	RGD:732174	D	RGD:9068941	20200609	RGD		butyrylcholinesterase deficiency;DNA:missense mutation: :p.A199V	PMID:9694584|REF_RGD_ID:1601328
8703756	Bche	butyrylcholinesterase	gene	DOID:769	neuroblastoma		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2317787
8703756	Bche	butyrylcholinesterase	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15121994
8703756	Bche	butyrylcholinesterase	gene	DOID:809	cocaine abuse	severity	ISO	RGD:732175	D	RGD:9068941	20240201	RGD			PMID:21540357|REF_RGD_ID:401960084
8703756	Bche	butyrylcholinesterase	gene	DOID:9000046	Poisoning		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20176007|PMID:20513442|PMID:21620937|PMID:21683774|PMID:29183815
8703756	Bche	butyrylcholinesterase	gene	DOID:9000441	Butyrylcholinesterase Deficiency		ISO	RGD:732174	D	RGD:7240710	20260729	OMIM			
8703756	Bche	butyrylcholinesterase	gene	DOID:9000441	Butyrylcholinesterase Deficiency		ISO	RGD:732174	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: APNEA, POSTANESTHETIC | ClinVar Annotator: match by term: BCHE, H variant | ClinVar Annotator: match by term: BCHE, J VARIANT | ClinVar Annotator: match by term: BCHE-related disorder | ClinVar Annotator: match by term: BUTYRYLCHOLINESTERASE DEFICIENCY | ClinVar Annotator: match by term: Butyrylcholinesterase deficiency | ClinVar Annotator: match by term: Deficiency of butyrylcholine esterase | ClinVar Annotator: match by term: Pseudocholinesterase deficiency | ClinVar Annotator: match by term: butyrylcholinesterase deficiency	PMID:10404729|PMID:10446378|PMID:11575530|PMID:12417112|PMID:1271425|PMID:12724618|PMID:12881446|PMID:1306123|PMID:13437188|PMID:13479831|PMID:1349196|PMID:1415224|PMID:14404182|PMID:15563885|PMID:15731589|PMID:16103129|PMID:16434405|PMID:16788378|PMID:17166756|PMID:18075469|PMID:18165570|PMID:18300943|PMID:18555211|PMID:1897345|PMID:2013061|PMID:20879632|PMID:21029050|PMID:21228368|PMID:21637541|PMID:22053728|PMID:22378569|PMID:2253336|PMID:23123771|PMID:2339692|PMID:23400986|PMID:24033266|PMID:25054547|PMID:25264279|PMID:25448037|PMID:25741868|PMID:26439437|PMID:27017361|PMID:27031121|PMID:27109752|PMID:27551784|PMID:28492532|PMID:2915989|PMID:30487145|PMID:30600548|PMID:30804560|PMID:31589614|PMID:31702488|PMID:31980526|PMID:33010031|PMID:33024248|PMID:33061533|PMID:33774263|PMID:3542989|PMID:3557462|PMID:38523675|PMID:39465744|PMID:6267958|PMID:7618741|PMID:7760318|PMID:8314794|PMID:8390770|PMID:8554068|PMID:8680411|PMID:9047329|PMID:9110359|PMID:9191541|PMID:9388484
8703756	Bche	butyrylcholinesterase	gene	DOID:9000459	Acholinesterasemia		ISO	RGD:732174	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acholinesterasemia	PMID:10446378|PMID:12724618|PMID:12881446|PMID:13437188|PMID:13479831|PMID:14404182|PMID:15731589|PMID:16103129|PMID:17166756|PMID:18300943|PMID:1897345|PMID:2013061|PMID:20879632|PMID:21029050|PMID:21228368|PMID:21637541|PMID:22053728|PMID:23123771|PMID:23400986|PMID:25054547|PMID:25264279|PMID:25448037|PMID:25741868|PMID:26439437|PMID:27031121|PMID:27109752|PMID:27551784|PMID:28492532|PMID:2915989|PMID:30487145|PMID:30600548|PMID:30804560|PMID:31702488|PMID:33061533|PMID:3542989|PMID:6267958|PMID:8390770|PMID:8554068|PMID:9047329
8703756	Bche	butyrylcholinesterase	gene	DOID:9000543	Death		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18597747
8703756	Bche	butyrylcholinesterase	gene	DOID:9000790	Postoperative Complications		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:6039104
8703756	Bche	butyrylcholinesterase	gene	DOID:9001745	Fasciculation		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:6465587
8703756	Bche	butyrylcholinesterase	gene	DOID:9002079	Paresis		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2249680
8703756	Bche	butyrylcholinesterase	gene	DOID:9002362	Hyperkinesis		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12019200
8703756	Bche	butyrylcholinesterase	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:26145887
8703756	Bche	butyrylcholinesterase	gene	DOID:9002554	Tachycardia		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18597747
8703756	Bche	butyrylcholinesterase	gene	DOID:9003507	Premature Birth		ISO	RGD:732174	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:10446378|PMID:12724618|PMID:12881446|PMID:13437188|PMID:13479831|PMID:14404182|PMID:15731589|PMID:16103129|PMID:17166756|PMID:1897345|PMID:2013061|PMID:20879632|PMID:21029050|PMID:21228368|PMID:21637541|PMID:22053728|PMID:23123771|PMID:25054547|PMID:25264279|PMID:25448037|PMID:25741868|PMID:26439437|PMID:27031121|PMID:27551784|PMID:28492532|PMID:2915989|PMID:30487145|PMID:30600548|PMID:30804560|PMID:31702488|PMID:3542989|PMID:6267958|PMID:8390770|PMID:9047329
8703756	Bche	butyrylcholinesterase	gene	DOID:9004992	Apnea		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:1058931|PMID:12392308|PMID:12881446|PMID:15826794|PMID:1734774|PMID:21029050|PMID:25054547|PMID:38703|PMID:4319258|PMID:4347326|PMID:4698763|PMID:4728581|PMID:4746059|PMID:4850696|PMID:4959505|PMID:4998912|PMID:5365519|PMID:5412891|PMID:5488351|PMID:5667302|PMID:6039104|PMID:6465587|PMID:6859614|PMID:6928942|PMID:7069741|PMID:726855|PMID:7378868|PMID:7788839|PMID:7793179|PMID:900467|PMID:987736
8703756	Bche	butyrylcholinesterase	gene	DOID:9005246	Paralysis		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1218179|PMID:122883|PMID:1734774|PMID:21228368|PMID:4319258|PMID:4347326|PMID:4362560|PMID:4728581|PMID:5021954|PMID:910611
8703756	Bche	butyrylcholinesterase	gene	DOID:9005292	Organophosphate Poisoning		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:22981459|PMID:22982776|PMID:23044488|PMID:23123253|PMID:23178380|PMID:23220586|PMID:26239905|PMID:31201777
8703756	Bche	butyrylcholinesterase	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18292872|PMID:18514640|PMID:20060817|PMID:20971807|PMID:22935511|PMID:22960160|PMID:23000451|PMID:25814464
8703756	Bche	butyrylcholinesterase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:619996	D	RGD:9068941	20200609	RGD			PMID:12379509|PMID:16187484|REF_RGD_ID:1599458|REF_RGD_ID:2306781
8703756	Bche	butyrylcholinesterase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:619996	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina	PMID:11478742|REF_RGD_ID:2306783
8703756	Bche	butyrylcholinesterase	gene	DOID:9005832	Amyloid Plaques		ISO	RGD:732175	D	RGD:9068941	20200609	RGD			PMID:22157615|REF_RGD_ID:5687325
8703756	Bche	butyrylcholinesterase	gene	DOID:9005930	Endotoxemia		ISO	RGD:732174	D	RGD:9068941	20200609	RGD			PMID:17657467|REF_RGD_ID:5688055
8703756	Bche	butyrylcholinesterase	gene	DOID:9006588	Trismus		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7378868
8703756	Bche	butyrylcholinesterase	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23000450
8703756	Bche	butyrylcholinesterase	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:732174	D	RGD:9068941	20200609	RGD		associated with diabetes mellitus	PMID:8149699|REF_RGD_ID:1601335
8703756	Bche	butyrylcholinesterase	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:732174	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15907830|REF_RGD_ID:1601317
8703756	Bche	butyrylcholinesterase	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3111302
8703756	Bche	butyrylcholinesterase	gene	DOID:9007692	Insulin Resistance		ISO	RGD:732174	D	RGD:9068941	20200609	RGD			PMID:17917325|REF_RGD_ID:2306776
8703756	Bche	butyrylcholinesterase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23063927
8703756	Bche	butyrylcholinesterase	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:619996	D	RGD:9068941	20200609	RGD		Protein:increased expression:serum	PMID:16442260|REF_RGD_ID:1599454
8703756	Bche	butyrylcholinesterase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732174	D	RGD:9068941	20200609	RGD			PMID:16442234|REF_RGD_ID:2306780
8703756	Bche	butyrylcholinesterase	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:732174	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.A539T (human)	PMID:11793025|REF_RGD_ID:2306782
8703756	Bche	butyrylcholinesterase	gene	DOID:9470	bacterial meningitis		ISO	RGD:732174	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:21303225|REF_RGD_ID:5688130
8703756	Bche	butyrylcholinesterase	gene	DOID:9505	cannabis abuse		ISO	RGD:732174	D	RGD:9068941	20240201	RGD		protein:increased activity:blood plasma (human)	PMID:30707402|REF_RGD_ID:401960085
8703756	Bche	butyrylcholinesterase	gene	DOID:9744	type 1 diabetes mellitus	onset	ISO	RGD:732174	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.A539T (human)	PMID:17026497|REF_RGD_ID:2306779
8703756	Bche	butyrylcholinesterase	gene	DOID:9884	muscular dystrophy		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22906800
8703756	Bche	butyrylcholinesterase	gene	DOID:9970	obesity		ISO	RGD:732174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:18452903|PMID:23000450|PMID:23073171|PMID:27163854
8703756	Bche	butyrylcholinesterase	gene	DOID:9976	heroin dependence		ISO	RGD:732174	D	RGD:9068941	20240201	RGD		protein:increased activity:blood plasma (human)	PMID:30707402|REF_RGD_ID:401960085
8703794	Shisa8	shisa family member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703803	Arl3	ARF like GTPase 3	gene	DOID:0110415	retinitis pigmentosa 2		ISO	RGD:737247	D	RGD:9068941	20240425	MouseDO		OMIM:312600	
8703803	Arl3	ARF like GTPase 3	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:737247	D	RGD:9068941	20220825	MouseDO		OMIM:263200	
8703803	Arl3	ARF like GTPase 3	gene	DOID:0112140	retinitis pigmentosa 83		ISO	RGD:734227	D	RGD:7240710	20190315	OMIM			
8703803	Arl3	ARF like GTPase 3	gene	DOID:0112140	retinitis pigmentosa 83		ISO	RGD:734227	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 83 | ClinVar Annotator: match by term: Retinitis pigmentosa 83	PMID:25741868|PMID:26964041|PMID:28492532|PMID:30932721|PMID:40037334
8703803	Arl3	ARF like GTPase 3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:734227	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:28492532|PMID:33748123
8703803	Arl3	ARF like GTPase 3	gene	DOID:4362	cervical cancer		ISO	RGD:734227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8703803	Arl3	ARF like GTPase 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8703803	Arl3	ARF like GTPase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703803	Arl3	ARF like GTPase 3	gene	DOID:630	genetic disease		ISO	RGD:734227	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8703803	Arl3	ARF like GTPase 3	gene	DOID:8501	fundus dystrophy		ISO	RGD:734227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
8703803	Arl3	ARF like GTPase 3	gene	DOID:9001060	JOUBERT SYNDROME 35		ISO	RGD:734227	D	RGD:7240710	20190315	OMIM			
8703803	Arl3	ARF like GTPase 3	gene	DOID:9001060	JOUBERT SYNDROME 35		ISO	RGD:734227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ARL3-related condition | ClinVar Annotator: match by term: JOUBERT SYNDROME 35 | ClinVar Annotator: match by term: Joubert syndrome 35	PMID:25741868|PMID:28492532|PMID:30269812
8703803	Arl3	ARF like GTPase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8703803	Arl3	ARF like GTPase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1354405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:0050581	brachydactyly		ISO	RGD:1354405	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:22374147|PMID:25741868|PMID:25758993|PMID:28492532
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:0050790	fibular hypoplasia and complex brachydactyly		ISO	RGD:1354405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acromesomelic dysplasia 2B	
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:0080006	bone development disease		ISO	RGD:1354405	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15805157
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:0080051	acromesomelic dysplasia, Hunter-Thompson type		ISO	RGD:1354405	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: acromesomelic dysplasia Hunter-Thompson type	
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:0081237	acromesomelic dysplasia 3		ISO	RGD:1354405	D	RGD:7240710	20180130	OMIM			
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:0081237	acromesomelic dysplasia 3		ISO	RGD:1354405	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type | ClinVar Annotator: match by term: CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES	PMID:14523231|PMID:15805157|PMID:16199547|PMID:17576681|PMID:22374147|PMID:24129431|PMID:25741868|PMID:25758993|PMID:28418932|PMID:28492532|PMID:31769494|PMID:33057194|PMID:33486847|PMID:35034853|PMID:35982159|PMID:9536098
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:0110965	brachydactyly type A2		ISO	RGD:1354405	D	RGD:7240710	20180130	OMIM			
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:0110965	brachydactyly type A2		ISO	RGD:1354405	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MOHR-WRIEDT TYPE BRACHYDACTYLY | ClinVar Annotator: match by term: Mohr-Wriedt type brachydactyly | ClinVar Annotator: match by term: Type A2 brachydactyly	PMID:14523231|PMID:22374147|PMID:25741868|PMID:25758993|PMID:28492532|PMID:33486847|PMID:35034853
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:0110978	brachydactyly type A1D		ISO	RGD:1354405	D	RGD:7240710	20190315	OMIM			
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:0110978	brachydactyly type A1D		ISO	RGD:1354405	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BRACHYDACTYLY, TYPE A1, D | ClinVar Annotator: match by term: Brachydactyly type A1D | ClinVar Annotator: match by term: Brachydactyly, type a1, d	PMID:25741868|PMID:28492532
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:1115	sarcoma		ISO	RGD:1354405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:12849	autistic disorder		ISO	RGD:1354405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:1354405	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Idiopathic pulmonary arterial hypertension	PMID:22374147|PMID:25741868|PMID:25758993|PMID:28492532
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:1909	melanoma		ISO	RGD:1354405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1354405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1354405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868|PMID:28492532
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:2841	asthma		ISO	RGD:1354405	D	RGD:9068941	20200609	RGD		protein:decreased expression:bronchus	PMID:18292470|REF_RGD_ID:5129470
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:480	movement disease		ISO	RGD:1354405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1354405	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:630	genetic disease		ISO	RGD:1354405	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1354405	D	RGD:9068941	20200609	RGD			PMID:19324947|REF_RGD_ID:5129472
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1354405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1354405	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease | ClinVar Annotator: match by term: pulmonary arterial hypertension	PMID:25741868|PMID:28492532|PMID:30029678
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1354405	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1354405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1354405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:9006294	Congenital Limb Deformities		ISO	RGD:1354405	D	RGD:9068941	20200609	RGD		type A2 brachydactyly, OMIM:112600; type C brachydactyly, OMIM:113100, with symphalangism, DNA:point mutations:exon:R486W; R486Q	PMID:14523231|REF_RGD_ID:1334470
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1354405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:9007661	Dwarfism		ISO	RGD:1354405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:9007888	primary pulmonary hypertension 3		ISO	RGD:1354405	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3	PMID:25741868|PMID:28492532
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1354405	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15804571
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1354405	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15804571
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8703813	Bmpr1b	bone morphogenetic protein receptor type 1B	gene	DOID:9834	hyperopia		ISO	RGD:1354405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
8703873	Dlc1	DLC1 Rho GTPase activating protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:68616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8703873	Dlc1	DLC1 Rho GTPase activating protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68616	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703873	Dlc1	DLC1 Rho GTPase activating protein	gene	DOID:0060326	myelomeningocele		ISO	RGD:68616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myelomeningocele	PMID:25741868
8703873	Dlc1	DLC1 Rho GTPase activating protein	gene	DOID:0080073	spina bifida occulta		ISO	RGD:68616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spina bifida occulta	PMID:25741868
8703873	Dlc1	DLC1 Rho GTPase activating protein	gene	DOID:10534	stomach cancer		ISO	RGD:68616	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8703873	Dlc1	DLC1 Rho GTPase activating protein	gene	DOID:1115	sarcoma		ISO	RGD:68616	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8703873	Dlc1	DLC1 Rho GTPase activating protein	gene	DOID:13938	amenorrhea		ISO	RGD:68616	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
8703873	Dlc1	DLC1 Rho GTPase activating protein	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:68616	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21455586
8703873	Dlc1	DLC1 Rho GTPase activating protein	gene	DOID:3275	thymoma		ISO	RGD:68616	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8703873	Dlc1	DLC1 Rho GTPase activating protein	gene	DOID:5041	esophageal cancer		ISO	RGD:68616	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8703873	Dlc1	DLC1 Rho GTPase activating protein	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:68616	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:26401016
8703873	Dlc1	DLC1 Rho GTPase activating protein	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:68616	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15674352
8703873	Dlc1	DLC1 Rho GTPase activating protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8703873	Dlc1	DLC1 Rho GTPase activating protein	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:68616	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	
8703873	Dlc1	DLC1 Rho GTPase activating protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8703873	Dlc1	DLC1 Rho GTPase activating protein	gene	DOID:9256	colorectal cancer		ISO	RGD:68616	D	RGD:7240710	20200226	OMIM			
8703873	Dlc1	DLC1 Rho GTPase activating protein	gene	DOID:9256	colorectal cancer		ISO	RGD:68616	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: DLC1-related condition	PMID:25741868|PMID:28492532
8703873	Dlc1	DLC1 Rho GTPase activating protein	gene	DOID:9256	colorectal cancer		ISO	RGD:68616	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: DLC1-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8703873	Dlc1	DLC1 Rho GTPase activating protein	gene	DOID:9256	colorectal cancer		ISO	RGD:68616	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: DLC1-related condition | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:17576681|PMID:24587289|PMID:25741868|PMID:28106320|PMID:28492532|PMID:9536098
8703873	Dlc1	DLC1 Rho GTPase activating protein	gene	DOID:9256	colorectal cancer		ISO	RGD:68616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: DLC1-related condition | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10649492|PMID:17576681|PMID:24587289|PMID:25741868|PMID:28106320|PMID:28492532|PMID:9536098
8703913	Col20a1	collagen type XX alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703913	Col20a1	collagen type XX alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1602872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8703913	Col20a1	collagen type XX alpha 1 chain	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1602872	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
8703913	Col20a1	collagen type XX alpha 1 chain	gene	DOID:3070	high grade glioma		ISO	RGD:1602872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8703913	Col20a1	collagen type XX alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1602872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8703913	Col20a1	collagen type XX alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8703913	Col20a1	collagen type XX alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8703970	Sdf2l1	stromal cell derived factor 2 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703970	Sdf2l1	stromal cell derived factor 2 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8703970	Sdf2l1	stromal cell derived factor 2 like 1	gene	DOID:3275	thymoma		ISO	RGD:1320780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8703970	Sdf2l1	stromal cell derived factor 2 like 1	gene	DOID:8778	Crohn's disease		ISO	RGD:1320780	D	RGD:9068941	20221103	CTD		CTD Direct Evidence: marker/mechanism	PMID:36038634
8703970	Sdf2l1	stromal cell derived factor 2 like 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1320780	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8703970	Sdf2l1	stromal cell derived factor 2 like 1	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1320780	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8703970	Sdf2l1	stromal cell derived factor 2 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8703970	Sdf2l1	stromal cell derived factor 2 like 1	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1585844	D	RGD:9068941	20200609	RGD		DNA:deletion:exons, introns:g.3_910del (rat)	PMID:27463508|REF_RGD_ID:11528530
8703978	Znf658	zinc finger protein 658	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345425	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703978	Znf658	zinc finger protein 658	gene	DOID:37	skin disease		ISO	RGD:1345425	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28720099
8703978	Znf658	zinc finger protein 658	gene	DOID:4362	cervical cancer		ISO	RGD:1345425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8703978	Znf658	zinc finger protein 658	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8703978	Znf658	zinc finger protein 658	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703988	Rangap1	Ran GTPase activating protein 1	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1321254	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27150054
8703988	Rangap1	Ran GTPase activating protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8703988	Rangap1	Ran GTPase activating protein 1	gene	DOID:0111117	nephronophthisis-like nephropathy 1		ISO	RGD:1321254	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1	
8703988	Rangap1	Ran GTPase activating protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8703988	Rangap1	Ran GTPase activating protein 1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:1310380	D	RGD:9068941	20200609	RGD		protein:increased expression:sciatic nerve, axon, cytoplasm (rat)	PMID:18667152|REF_RGD_ID:9835000
8703988	Rangap1	Ran GTPase activating protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8703988	Rangap1	Ran GTPase activating protein 1	gene	DOID:3275	thymoma		ISO	RGD:1321254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8703988	Rangap1	Ran GTPase activating protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321254	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8703988	Rangap1	Ran GTPase activating protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8703988	Rangap1	Ran GTPase activating protein 1	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:1310380	D	RGD:9068941	20200609	RGD		protein:increased expression:carotid artery, intima (rat)	PMID:24988324|REF_RGD_ID:9835414
8703988	Rangap1	Ran GTPase activating protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8703988	Rangap1	Ran GTPase activating protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8703988	Rangap1	Ran GTPase activating protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8704012	Celf3	CUGBP Elav-like family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8704012	Celf3	CUGBP Elav-like family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1319873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8704012	Celf3	CUGBP Elav-like family member 3	gene	DOID:1909	melanoma		ISO	RGD:1319873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8704012	Celf3	CUGBP Elav-like family member 3	gene	DOID:440	neuromuscular disease		ISO	RGD:1319873	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
8704012	Celf3	CUGBP Elav-like family member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1319873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8704012	Celf3	CUGBP Elav-like family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704012	Celf3	CUGBP Elav-like family member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8704012	Celf3	CUGBP Elav-like family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8704051	Nnat	neuronatin	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:730841	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17043644
8704051	Nnat	neuronatin	gene	DOID:769	neuroblastoma		ISO	RGD:730841	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17762496
8704063	Maged1	MAGE family member D1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8704063	Maged1	MAGE family member D1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8704063	Maged1	MAGE family member D1	gene	DOID:1909	melanoma		ISO	RGD:736331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8704063	Maged1	MAGE family member D1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8704063	Maged1	MAGE family member D1	gene	DOID:4362	cervical cancer		ISO	RGD:736331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8704063	Maged1	MAGE family member D1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704063	Maged1	MAGE family member D1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8704063	Maged1	MAGE family member D1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8704094	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:0060336	3-methylglutaconic aciduria		ISO	RGD:1603908	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: 3-Methylglutaconic aciduria	PMID:25741868
8704094	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:0110000	3-methylglutaconic aciduria type 5		ISO	RGD:1603908	D	RGD:7240710	20180130	OMIM			
8704094	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:0110000	3-methylglutaconic aciduria type 5		ISO	RGD:1603908	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 | ClinVar Annotator: match by term: DNAJC19-related condition | ClinVar Annotator: match by term: MGA, TYPE V	PMID:16055927|PMID:16199547|PMID:17576681|PMID:22797137|PMID:25741868|PMID:27426421|PMID:27928778|PMID:28296734|PMID:28492532|PMID:28771251|PMID:29625556|PMID:34008892|PMID:9536098
8704094	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8704094	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:1115	sarcoma		ISO	RGD:1603908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8704094	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:1324	lung cancer		ISO	RGD:1603908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8704094	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8704094	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:4362	cervical cancer		ISO	RGD:1603908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8704094	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704094	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8704094	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:630	genetic disease		ISO	RGD:1603908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8704094	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8704109	Gorasp2	golgi reassembly stacking protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8704109	Gorasp2	golgi reassembly stacking protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8704109	Gorasp2	golgi reassembly stacking protein 2	gene	DOID:1324	lung cancer		ISO	RGD:736034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8704109	Gorasp2	golgi reassembly stacking protein 2	gene	DOID:1909	melanoma		ISO	RGD:736034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8704109	Gorasp2	golgi reassembly stacking protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8704109	Gorasp2	golgi reassembly stacking protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8704109	Gorasp2	golgi reassembly stacking protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:736034	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8704109	Gorasp2	golgi reassembly stacking protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704109	Gorasp2	golgi reassembly stacking protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8704109	Gorasp2	golgi reassembly stacking protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8704144	Nkapd1	NKAP domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605379	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8704144	Nkapd1	NKAP domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1605379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8704144	Nkapd1	NKAP domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1605379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8704144	Nkapd1	NKAP domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8704144	Nkapd1	NKAP domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605379	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8704144	Nkapd1	NKAP domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605379	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8704144	Nkapd1	NKAP domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704144	Nkapd1	NKAP domain containing 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8704161	Mamdc4	MAM domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8704161	Mamdc4	MAM domain containing 4	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1604980	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
8704161	Mamdc4	MAM domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8704161	Mamdc4	MAM domain containing 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8704161	Mamdc4	MAM domain containing 4	gene	DOID:1115	sarcoma		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8704161	Mamdc4	MAM domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8704161	Mamdc4	MAM domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8704161	Mamdc4	MAM domain containing 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8704161	Mamdc4	MAM domain containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1604980	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8704161	Mamdc4	MAM domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704161	Mamdc4	MAM domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8704161	Mamdc4	MAM domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8704161	Mamdc4	MAM domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8704161	Mamdc4	MAM domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8704161	Mamdc4	MAM domain containing 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8704192	Ca12	carbonic anhydrase 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8704192	Ca12	carbonic anhydrase 12	gene	DOID:0050861	colorectal adenocarcinoma	severity	ISO	RGD:1315327	D	RGD:9068941	20220916	RGD			PMID:10666387|REF_RGD_ID:155226866
8704192	Ca12	carbonic anhydrase 12	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:1315327	D	RGD:9068941	20220916	RGD			PMID:22172588|REF_RGD_ID:153352330
8704192	Ca12	carbonic anhydrase 12	gene	DOID:0080199	colorectal carcinoma	disease_progression	ISO	RGD:1315327	D	RGD:9068941	20220916	RGD			PMID:27688658|REF_RGD_ID:155226860
8704192	Ca12	carbonic anhydrase 12	gene	DOID:0111371	isolated hyperchlorhidrosis		ISO	RGD:1315327	D	RGD:7240710	20180130	OMIM			
8704192	Ca12	carbonic anhydrase 12	gene	DOID:0111371	isolated hyperchlorhidrosis		ISO	RGD:1315327	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CA12-related condition | ClinVar Annotator: match by term: HYPERCHLORHIDROSIS, ISOLATED | ClinVar Annotator: match by term: Isolated hyperchlorhidrosis	PMID:25741868|PMID:26911677
8704192	Ca12	carbonic anhydrase 12	gene	DOID:1115	sarcoma		ISO	RGD:1315327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8704192	Ca12	carbonic anhydrase 12	gene	DOID:1324	lung cancer		ISO	RGD:1315327	D	RGD:9068941	20220916	RGD		protein:increased expression:serum;	PMID:22439015|REF_RGD_ID:155226862
8704192	Ca12	carbonic anhydrase 12	gene	DOID:1909	melanoma		ISO	RGD:1315327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:26911677
8704192	Ca12	carbonic anhydrase 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:26911677
8704192	Ca12	carbonic anhydrase 12	gene	DOID:234	colon adenocarcinoma	disease_progression	ISO	RGD:1315327	D	RGD:9068941	20220915	RGD			PMID:35847888|REF_RGD_ID:153352327
8704192	Ca12	carbonic anhydrase 12	gene	DOID:3275	thymoma		ISO	RGD:1315327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8704192	Ca12	carbonic anhydrase 12	gene	DOID:3748	esophagus squamous cell carcinoma	severity	ISO	RGD:1315327	D	RGD:9068941	20220916	RGD			PMID:26316888|REF_RGD_ID:155226859
8704192	Ca12	carbonic anhydrase 12	gene	DOID:3883	Lynch syndrome		ISO	RGD:1315327	D	RGD:9068941	20220916	RGD		protein:decreased expression:colorectum	PMID:17855694|REF_RGD_ID:155226867
8704192	Ca12	carbonic anhydrase 12	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1315034	D	RGD:9068941	20220916	RGD			PMID:23910904|REF_RGD_ID:155226863
8704192	Ca12	carbonic anhydrase 12	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1315327	D	RGD:9068941	20220916	RGD			PMID:20521252|REF_RGD_ID:155226864
8704192	Ca12	carbonic anhydrase 12	gene	DOID:5015	fibrolamellar carcinoma		ISO	RGD:1315327	D	RGD:9068941	20220915	RGD		mRNA:increased expression:liver	PMID:28304380|REF_RGD_ID:153352326
8704192	Ca12	carbonic anhydrase 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8704192	Ca12	carbonic anhydrase 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704192	Ca12	carbonic anhydrase 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315327	D	RGD:9068941	20220916	RGD		mRNA:altered expression:liver	PMID:29900055|REF_RGD_ID:155226869
8704192	Ca12	carbonic anhydrase 12	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1315328	D	RGD:9068941	20220915	RGD			PMID:35362480|REF_RGD_ID:153352325
8704192	Ca12	carbonic anhydrase 12	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1315327	D	RGD:9068941	20220915	RGD			PMID:31934040|PMID:35362480|REF_RGD_ID:153352325|REF_RGD_ID:153352328
8704192	Ca12	carbonic anhydrase 12	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1315327	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
8704192	Ca12	carbonic anhydrase 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8704192	Ca12	carbonic anhydrase 12	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1315327	D	RGD:9068941	20220915	RGD		protein:decreased expression:colorectal mucosa	PMID:15849821|REF_RGD_ID:153352324
8704192	Ca12	carbonic anhydrase 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8704192	Ca12	carbonic anhydrase 12	gene	DOID:9009121	lung metastasis	ameliorates	ISO	RGD:1315327	D	RGD:9068941	20220916	RGD		associated with breast cancer;	PMID:29786141|REF_RGD_ID:155226861
8704220	Rpl21	ribosomal protein L21	gene	DOID:0110709	hypotrichosis 12		ISO	RGD:68568	D	RGD:7240710	20180130	OMIM			
8704220	Rpl21	ribosomal protein L21	gene	DOID:0110709	hypotrichosis 12		ISO	RGD:68568	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPOTRICHOSIS 12	
8704220	Rpl21	ribosomal protein L21	gene	DOID:4535	hypotrichosis		ISO	RGD:68568	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8704237	Gprin3	GPRIN family member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8704246	Siglec5	sialic acid binding Ig like lectin 5	gene	DOID:10534	stomach cancer		ISO	RGD:1313458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8704246	Siglec5	sialic acid binding Ig like lectin 5	gene	DOID:1324	lung cancer		ISO	RGD:1313458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8704246	Siglec5	sialic acid binding Ig like lectin 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8704246	Siglec5	sialic acid binding Ig like lectin 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704246	Siglec5	sialic acid binding Ig like lectin 5	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313458	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8704246	Siglec5	sialic acid binding Ig like lectin 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8704246	Siglec5	sialic acid binding Ig like lectin 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8704248	Ssbp2	single stranded DNA binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8704248	Ssbp2	single stranded DNA binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8704248	Ssbp2	single stranded DNA binding protein 2	gene	DOID:10283	prostate cancer		ISO	RGD:1344325	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8704248	Ssbp2	single stranded DNA binding protein 2	gene	DOID:10283	prostate cancer		ISO	RGD:1344325	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8704248	Ssbp2	single stranded DNA binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8704248	Ssbp2	single stranded DNA binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8704248	Ssbp2	single stranded DNA binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8704248	Ssbp2	single stranded DNA binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8704248	Ssbp2	single stranded DNA binding protein 2	gene	DOID:3312	bipolar disorder		ISO	RGD:1344325	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
8704248	Ssbp2	single stranded DNA binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8704248	Ssbp2	single stranded DNA binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1344325	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8704248	Ssbp2	single stranded DNA binding protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8704248	Ssbp2	single stranded DNA binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704248	Ssbp2	single stranded DNA binding protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8704248	Ssbp2	single stranded DNA binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8704248	Ssbp2	single stranded DNA binding protein 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1344325	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18559593
8704248	Ssbp2	single stranded DNA binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8704248	Ssbp2	single stranded DNA binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8704248	Ssbp2	single stranded DNA binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8704283	Clk2	CDC like kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8704283	Clk2	CDC like kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8704283	Clk2	CDC like kinase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8704283	Clk2	CDC like kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8704283	Clk2	CDC like kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8704283	Clk2	CDC like kinase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8704283	Clk2	CDC like kinase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8704283	Clk2	CDC like kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8704283	Clk2	CDC like kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8704283	Clk2	CDC like kinase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8704283	Clk2	CDC like kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704283	Clk2	CDC like kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8704283	Clk2	CDC like kinase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8704307	Ptpn6	protein tyrosine phosphatase non-receptor type 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8704307	Ptpn6	protein tyrosine phosphatase non-receptor type 6	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:734188	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8704307	Ptpn6	protein tyrosine phosphatase non-receptor type 6	gene	DOID:0060496	respiratory allergy		ISO	RGD:734188	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18441283
8704307	Ptpn6	protein tyrosine phosphatase non-receptor type 6	gene	DOID:10534	stomach cancer		ISO	RGD:734188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8704307	Ptpn6	protein tyrosine phosphatase non-receptor type 6	gene	DOID:11168	anogenital venereal wart		ISO	RGD:734188	D	RGD:9068941	20201001	RGD		protein:increased expression:foreskin	PMID:18543080|REF_RGD_ID:39128248
8704307	Ptpn6	protein tyrosine phosphatase non-receptor type 6	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:734188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8704307	Ptpn6	protein tyrosine phosphatase non-receptor type 6	gene	DOID:182	calcinosis		ISO	RGD:734188	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
8704307	Ptpn6	protein tyrosine phosphatase non-receptor type 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:734188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8704307	Ptpn6	protein tyrosine phosphatase non-receptor type 6	gene	DOID:4079	heart valve disease		ISO	RGD:734188	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
8704307	Ptpn6	protein tyrosine phosphatase non-receptor type 6	gene	DOID:4362	cervical cancer		ISO	RGD:734188	D	RGD:9068941	20201001	RGD		protein:increased expression:foreskin	PMID:18543080|REF_RGD_ID:39128248
8704307	Ptpn6	protein tyrosine phosphatase non-receptor type 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:734188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8704307	Ptpn6	protein tyrosine phosphatase non-receptor type 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704307	Ptpn6	protein tyrosine phosphatase non-receptor type 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8704307	Ptpn6	protein tyrosine phosphatase non-receptor type 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:734188	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
8704307	Ptpn6	protein tyrosine phosphatase non-receptor type 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8704307	Ptpn6	protein tyrosine phosphatase non-receptor type 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8704337	Gipc2	GIPC PDZ domain containing family member 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8704337	Gipc2	GIPC PDZ domain containing family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8704337	Gipc2	GIPC PDZ domain containing family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	
8704375	Ccar2	cell cycle and apoptosis regulator 2	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:1605357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24252177
8704406	Hoxb9	homeobox B9	gene	DOID:10534	stomach cancer		ISO	RGD:1314613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8704406	Hoxb9	homeobox B9	gene	DOID:3275	thymoma		ISO	RGD:1314613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8704406	Hoxb9	homeobox B9	gene	DOID:5041	esophageal cancer		ISO	RGD:1314613	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8704406	Hoxb9	homeobox B9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704406	Hoxb9	homeobox B9	gene	DOID:9000647	Acute Erythroleukemia		ISO	RGD:1314613	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30926971
8704406	Hoxb9	homeobox B9	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314613	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27182052
8704406	Hoxb9	homeobox B9	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1314613	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27182052
8704406	Hoxb9	homeobox B9	gene	DOID:9004268	Uterine Neoplasms		ISO	RGD:1314613	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27182052
8704406	Hoxb9	homeobox B9	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1314613	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27182052
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:0060058	lymphoma		ISO	RGD:1322684	D	RGD:9068941	20220812	RGD		DNA:missense mutation:CDS p.D140E (rs7479004) (human)	PMID:25407497|REF_RGD_ID:153323305
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:0060480	left ventricular noncompaction		ISO	RGD:1322685	D	RGD:9068941	20230817	MouseDO		OMIM:604169	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:0070529	Sifrim-Hitz-Weiss syndrome		ISO	RGD:1322684	D	RGD:7240710	20190315	OMIM			
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:0070529	Sifrim-Hitz-Weiss syndrome		ISO	RGD:1322684	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHD4-Related Disorder | ClinVar Annotator: match by term: CHD4-related disorder | ClinVar Annotator: match by term: SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME | ClinVar Annotator: match by term: SIFRIM-HITZ-WEISS SYNDROME | ClinVar Annotator: match by term: Sifrim-Hitz-Weiss syndrome	PMID:17576681|PMID:21743468|PMID:22575888|PMID:25741868|PMID:27479907|PMID:27616479|PMID:28492532|PMID:31388190|PMID:31474762|PMID:32543371|PMID:32881470|PMID:36939041|PMID:39824190|PMID:9536098
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:0080833	laryngomalacia		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:10488	imperforate anus		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imperforate anus	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:1059	intellectual disability		ISO	RGD:1322684	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:10908	hydrocephalus		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:11383	cryptorchidism		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:12270	coloboma		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:12397	entropion		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Entropion	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:12849	autistic disorder		ISO	RGD:1322684	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30559488
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:1324	lung cancer	ameliorates	ISO	RGD:1322684	D	RGD:9068941	20220812	RGD		mRNA:increased expression:lung (human)	PMID:30031117|REF_RGD_ID:153323309
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:1612	breast cancer		ISO	RGD:1322684	D	RGD:9068941	20220811	RGD		mRNA:increased expression:breast (human)	PMID:28486105|REF_RGD_ID:153323299
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:1909	melanoma		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:1993	rectum cancer		ISO	RGD:1322684	D	RGD:9068941	20220812	RGD		DNA:missense mutation:CDS p.D140E (rs7479004) (human)	PMID:25407497|REF_RGD_ID:153323305
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:1996	rectum adenocarcinoma		ISO	RGD:1322684	D	RGD:9068941	20220811	RGD		mRNA:increased expression:rectum (human)	PMID:28486105|REF_RGD_ID:153323299
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:234	colon adenocarcinoma	ameliorates	ISO	RGD:1322684	D	RGD:9068941	20220811	RGD		human cells in a mouse model	PMID:28486105|REF_RGD_ID:153323299
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:2340	craniosynostosis		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:2526	prostate adenocarcinoma		ISO	RGD:1322684	D	RGD:9068941	20220811	RGD		mRNA:decreased expression:prostate gland (human)	PMID:28486105|REF_RGD_ID:153323299
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:2876	laryngeal squamous cell carcinoma	exacerbates	ISO	RGD:1322684	D	RGD:9068941	20220812	RGD		mRNA:increased expression:larynx (human)	PMID:33315534|REF_RGD_ID:153323310
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:327	syringomyelia		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Syringomyelia	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322684	D	RGD:9068941	20220811	RGD		mRNA:increased expression:lung (human)	PMID:28486105|REF_RGD_ID:153323299
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1322684	D	RGD:9068941	20220811	RGD		mRNA:increased expression:lung (human)	PMID:28486105|REF_RGD_ID:153323299
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1322684	D	RGD:9068941	20220812	RGD		human cells in a mouse model	PMID:32228507|REF_RGD_ID:153323307
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1322684	D	RGD:9068941	20220812	RGD		DNA:missense mutation:CDS:p.D140E (rs7479004) (human)	PMID:29667179|REF_RGD_ID:151660359
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322684	D	RGD:9068941	20220811	RGD		mRNA:decreased expression:kidney (human)	PMID:28486105|REF_RGD_ID:153323299
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:4702	mongolian spot		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1322684	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:5419	schizophrenia		ISO	RGD:1322684	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743468
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322684	D	RGD:9068941	20220811	RGD		mRNA:increased expression:head or neck skin (human)	PMID:28486105|REF_RGD_ID:153323299
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:5723	optic atrophy		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:630	genetic disease		ISO	RGD:1322684	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:27616479|PMID:28492532|PMID:31388190|PMID:32543371|PMID:36939041|PMID:9536098
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:674	cleft palate		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322684	D	RGD:9068941	20220811	RGD		mRNA:increased expression:liver (human)	PMID:28486105|REF_RGD_ID:153323299
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1322684	D	RGD:9068941	20220812	RGD		mRNA:increased expression:liver (human)	PMID:32070428|REF_RGD_ID:153323308
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1322684	D	RGD:9068941	20220812	RGD		protein:increased expression:liver (human)	PMID:26095183|REF_RGD_ID:11571740
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1322684	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35362730
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1322684	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35362730
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9000586	Vocal Cord Paralysis		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unilateral vocal cord paralysis	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9001581	Constipation		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9002554	Tachycardia		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9003133	Hypertelorism		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9003507	Premature Birth		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9003591	Telecanthus		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9003816	Macrocephaly		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9004538	Hearing Loss		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1322684	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30008631
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9005616	Micrognathism		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9006618	Liver Metastasis	ameliorates	ISO	RGD:1322684	D	RGD:9068941	20220811	RGD		associated with human colon adenocarcinoma cells in a mouse model	PMID:28486105|REF_RGD_ID:153323299
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9006728	Triple Negative Breast Neoplasms	exacerbates	ISO	RGD:1322684	D	RGD:9068941	20220812	RGD		protein:increased expression:breast (human)	PMID:29305962|REF_RGD_ID:153323306
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1322684	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23104009
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9008214	Genu Valgum		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9008811	Tachypnea		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9008965	Bronchomalacia		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bronchomalacia	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9009121	lung metastasis	ameliorates	ISO	RGD:1322684	D	RGD:9068941	20220811	RGD		associated with human colon adenocarcinoma cells in a mouse model	PMID:28486105|REF_RGD_ID:153323299
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1322684	D	RGD:9068941	20220812	RGD			PMID:28486105|REF_RGD_ID:153323299
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1322684	D	RGD:9068941	20220812	RGD		mRNA:increased expression:lymph node (human)	PMID:29467924|REF_RGD_ID:153323304
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:930	orbital disease		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:936	brain disease		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Encephalopathy | ClinVar Annotator: match by term: Neonatal encephalopathy	PMID:25741868
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9840	esotropia		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
8704413	Chd4	chromodomain helicase DNA binding protein 4	gene	DOID:9970	obesity		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
8704464	Son	SON DNA and RNA binding protein	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319118	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
8704464	Son	SON DNA and RNA binding protein	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:0060953	ZTTK syndrome		ISO	RGD:1319118	D	RGD:7240710	20190315	OMIM			
8704464	Son	SON DNA and RNA binding protein	gene	DOID:0060953	ZTTK syndrome		ISO	RGD:1319118	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SON-related condition | ClinVar Annotator: match by term: ZHU-TOKITA-TAKENOUCHI-KIM SYNDROME | ClinVar Annotator: match by term: ZTTK SYNDROME | ClinVar Annotator: match by term: ZTTK syndrome	PMID:25741868|PMID:27545676|PMID:27545680|PMID:28135719|PMID:28492532|PMID:32368696|PMID:34521999|PMID:36549658
8704464	Son	SON DNA and RNA binding protein	gene	DOID:0070297	primary microcephaly		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:28492532
8704464	Son	SON DNA and RNA binding protein	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1319118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8704464	Son	SON DNA and RNA binding protein	gene	DOID:0112359	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay		ISO	RGD:1319118	D	RGD:9068941	20221110	RGD		DNA:missense mutations:exon 3:multiple (human)	PMID:31005274|REF_RGD_ID:155641262
8704464	Son	SON DNA and RNA binding protein	gene	DOID:1059	intellectual disability		ISO	RGD:1319118	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8704464	Son	SON DNA and RNA binding protein	gene	DOID:10907	microcephaly		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8704464	Son	SON DNA and RNA binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:12215	oligohydramnios		ISO	RGD:1319118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
8704464	Son	SON DNA and RNA binding protein	gene	DOID:12849	autistic disorder		ISO	RGD:1319118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8704464	Son	SON DNA and RNA binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:13620	patent foramen ovale		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
8704464	Son	SON DNA and RNA binding protein	gene	DOID:1657	ventricular septal defect		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
8704464	Son	SON DNA and RNA binding protein	gene	DOID:1826	epilepsy		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:1909	melanoma		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:1969	cerebral palsy		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:3275	thymoma		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:3650	lactic acidosis		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1319118	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8704464	Son	SON DNA and RNA binding protein	gene	DOID:630	genetic disease		ISO	RGD:1319118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:36973392
8704464	Son	SON DNA and RNA binding protein	gene	DOID:8469	influenza		ISO	RGD:1319119	D	RGD:9068941	20221110	RGD			PMID:34883209|REF_RGD_ID:155641258
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9000343	Vision Disorders		ISO	RGD:1319118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:27545676|PMID:27545680|PMID:28135719|PMID:28492532
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9001510	Funnel Chest		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9001733	Tinnitus		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intrauterine growth retardation	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9002554	Tachycardia		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9003133	Hypertelorism		ISO	RGD:1319118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1319118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9003507	Premature Birth		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:34521999
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9003539	Hyperacusis		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9003816	Macrocephaly		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9004538	Hearing Loss		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9004992	Apnea		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9005077	Joint Instability		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27545676|PMID:27545680|PMID:28135719|PMID:28492532
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9008582	Developmental Disease		ISO	RGD:1319118	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9008680	Respiratory Tract Infections		ISO	RGD:1319118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Respiratory tract infection	PMID:25741868
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24	
8704464	Son	SON DNA and RNA binding protein	gene	DOID:9834	hyperopia		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
8704481	Znf81	zinc finger protein 81	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8704481	Znf81	zinc finger protein 81	gene	DOID:0050776	non-syndromic X-linked intellectual disability		ISO	RGD:1349324	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability	
8704481	Znf81	zinc finger protein 81	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8704490	Lcat	lecithin-cholesterol acyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8704490	Lcat	lecithin-cholesterol acyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:737383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8704490	Lcat	lecithin-cholesterol acyltransferase	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:2993	D	RGD:9068941	20200609	RGD			PMID:12935429|REF_RGD_ID:1581787
8704490	Lcat	lecithin-cholesterol acyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:737383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8704490	Lcat	lecithin-cholesterol acyltransferase	gene	DOID:1391	Norum disease		ISO	RGD:737383	D	RGD:7240710	20180130	OMIM			
8704490	Lcat	lecithin-cholesterol acyltransferase	gene	DOID:1391	Norum disease		ISO	RGD:737383	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FISH-EYE DISEASE | ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT DEFICIENCY | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: LCAT-related condition | ClinVar Annotator: match by term: LCATA DEFICIENCY | ClinVar Annotator: match by term: Norum disease	PMID:15297675|PMID:1588268|PMID:15994445|PMID:17526537|PMID:19687369|PMID:2052566|PMID:21901787|PMID:22090275|PMID:22629316|PMID:22701329|PMID:22923420|PMID:23023370|PMID:23236364|PMID:23412821|PMID:24503134|PMID:24507774|PMID:25741868|PMID:25948084|PMID:28492532|PMID:28983876|PMID:29083407|PMID:30201532|PMID:30333156|PMID:31164121|PMID:32041611|PMID:34604605|PMID:34789074|PMID:36644204|PMID:7658165|PMID:7658168|PMID:8432868|PMID:8620346|PMID:8807342|PMID:9101439|PMID:9180249|PMID:9261271
8704490	Lcat	lecithin-cholesterol acyltransferase	gene	DOID:2349	arteriosclerosis		ISO	RGD:10859	D	RGD:9068941	20200609	RGD			PMID:11809774|REF_RGD_ID:1581783
8704490	Lcat	lecithin-cholesterol acyltransferase	gene	DOID:2349	arteriosclerosis	susceptibility	ISO	RGD:737383	D	RGD:9068941	20200609	RGD			PMID:12673583|REF_RGD_ID:1581779
8704490	Lcat	lecithin-cholesterol acyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737383	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704490	Lcat	lecithin-cholesterol acyltransferase	gene	DOID:5844	myocardial infarction		ISO	RGD:2993	D	RGD:9068941	20200609	RGD			PMID:16640830|REF_RGD_ID:1581773
8704490	Lcat	lecithin-cholesterol acyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737383	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8704490	Lcat	lecithin-cholesterol acyltransferase	gene	DOID:783	end stage renal disease		ISO	RGD:2993	D	RGD:9068941	20200609	RGD			PMID:15280162|REF_RGD_ID:1581769
8704490	Lcat	lecithin-cholesterol acyltransferase	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:10859	D	RGD:9068941	20200609	RGD			PMID:14668345|REF_RGD_ID:1581782
8704490	Lcat	lecithin-cholesterol acyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8704490	Lcat	lecithin-cholesterol acyltransferase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:2993	D	RGD:9068941	20230831	RGD		mRNA:decreased expression:liver (rat)	PMID:28959666|REF_RGD_ID:401794432
8704490	Lcat	lecithin-cholesterol acyltransferase	gene	DOID:9351	diabetes mellitus		ISO	RGD:737383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:25741868
8704505	Ube2l6	ubiquitin conjugating enzyme E2 L6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8704505	Ube2l6	ubiquitin conjugating enzyme E2 L6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704505	Ube2l6	ubiquitin conjugating enzyme E2 L6	gene	DOID:9001488	Human Influenza		ISO	RGD:1317456	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
8704505	Ube2l6	ubiquitin conjugating enzyme E2 L6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8704505	Ube2l6	ubiquitin conjugating enzyme E2 L6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8704512	Ncdn	neurochondrin	gene	DOID:0111358	Floating-Harbor syndrome		ISO	RGD:734133	D	RGD:8554872	20241217	ClinVar		ClinVar Annotator: match by term: Floating-Harbor syndrome	PMID:25741868
8704512	Ncdn	neurochondrin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8704512	Ncdn	neurochondrin	gene	DOID:1909	melanoma		ISO	RGD:734133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8704512	Ncdn	neurochondrin	gene	DOID:3070	high grade glioma		ISO	RGD:734133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8704512	Ncdn	neurochondrin	gene	DOID:5041	esophageal cancer		ISO	RGD:734133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8704512	Ncdn	neurochondrin	gene	DOID:5419	schizophrenia		ISO	RGD:621734	D	RGD:9068941	20250501	RGD		protein:decreased expression:dorsolateral prefrontal cortex	PMID:25778620|REF_RGD_ID:11054158
8704512	Ncdn	neurochondrin	gene	DOID:5419	schizophrenia		ISO	RGD:734133	D	RGD:9068941	20250501	RGD		protein:increased expression:CA1 field of hippocampus	PMID:26048293|REF_RGD_ID:11075927
8704512	Ncdn	neurochondrin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704512	Ncdn	neurochondrin	gene	DOID:9005816	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS		ISO	RGD:734133	D	RGD:7240710	20220216	OMIM			
8704512	Ncdn	neurochondrin	gene	DOID:9005816	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS		ISO	RGD:734133	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: NCDN-related disorder | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS | ClinVar Annotator: match by term: Neurodevelopmental disorder with infantile epileptic spasms	PMID:25741868|PMID:33711248
8704512	Ncdn	neurochondrin	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:734133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8704538	Pxylp1	2-phosphoxylose phosphatase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8704538	Pxylp1	2-phosphoxylose phosphatase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1342803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8704538	Pxylp1	2-phosphoxylose phosphatase 1	gene	DOID:1115	sarcoma		ISO	RGD:1342803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8704538	Pxylp1	2-phosphoxylose phosphatase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1342803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8704538	Pxylp1	2-phosphoxylose phosphatase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1342803	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8704538	Pxylp1	2-phosphoxylose phosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704538	Pxylp1	2-phosphoxylose phosphatase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8704578	Fancb	FA complementation group B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
8704578	Fancb	FA complementation group B	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:1351449	D	RGD:9068941	20200609	RGD			PMID:17409780|REF_RGD_ID:11049143
8704578	Fancb	FA complementation group B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8704578	Fancb	FA complementation group B	gene	DOID:0111098	Fanconi anemia complementation group B		ISO	RGD:1351449	D	RGD:7240710	20180130	OMIM			
8704578	Fancb	FA complementation group B	gene	DOID:0111098	Fanconi anemia complementation group B		ISO	RGD:1351449	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP B | ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B	PMID:15502827|PMID:16679491|PMID:17924555|PMID:21910217|PMID:23613520|PMID:24033266|PMID:25168418|PMID:25741868|PMID:28492532|PMID:32106311|PMID:32546565
8704578	Fancb	FA complementation group B	gene	DOID:0111140	IGSF1 deficiency syndrome		ISO	RGD:1351449	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypothyroidism, central, and testicular enlargement | ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement	PMID:24033266|PMID:25741868|PMID:28492532
8704578	Fancb	FA complementation group B	gene	DOID:0111766	X-linked VACTERL association		ISO	RGD:1351449	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H, X-LINKED	PMID:24033266|PMID:25741868|PMID:28492532|PMID:32546565
8704578	Fancb	FA complementation group B	gene	DOID:10534	stomach cancer		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8704578	Fancb	FA complementation group B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8704578	Fancb	FA complementation group B	gene	DOID:13636	Fanconi anemia		ISO	RGD:1351449	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:15502827|PMID:16199547|PMID:17576681|PMID:23613520|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32106311|PMID:32410215|PMID:32546565|PMID:9536098
8704578	Fancb	FA complementation group B	gene	DOID:13636	Fanconi anemia		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:15502827|PMID:16199547|PMID:17576681|PMID:23613520|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32106311|PMID:32410215|PMID:32546565|PMID:36622392|PMID:9536098
8704578	Fancb	FA complementation group B	gene	DOID:1612	breast cancer		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast Cancer	PMID:28492532|PMID:33558524
8704578	Fancb	FA complementation group B	gene	DOID:1909	melanoma		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8704578	Fancb	FA complementation group B	gene	DOID:4362	cervical cancer		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8704578	Fancb	FA complementation group B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
8704578	Fancb	FA complementation group B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351449	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:20332657|REF_RGD_ID:11344903
8704578	Fancb	FA complementation group B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704578	Fancb	FA complementation group B	gene	DOID:630	genetic disease		ISO	RGD:1351449	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8704578	Fancb	FA complementation group B	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
8704578	Fancb	FA complementation group B	gene	DOID:9002532	Neonatal Hyperbilirubinemia		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hyperbilirubinemia	PMID:28492532
8704578	Fancb	FA complementation group B	gene	DOID:9003703	Coxa Valga		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coxa valga	PMID:25741868|PMID:28492532
8704578	Fancb	FA complementation group B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:28492532
8704578	Fancb	FA complementation group B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8704578	Fancb	FA complementation group B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:28492532
8704578	Fancb	FA complementation group B	gene	DOID:9007661	Dwarfism		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
8704578	Fancb	FA complementation group B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8704578	Fancb	FA complementation group B	gene	DOID:9256	colorectal cancer		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
8704588	Apcdd1l	APC down-regulated 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8704588	Apcdd1l	APC down-regulated 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MYH-associated polyposis	PMID:25085752|PMID:25186627|PMID:25741868|PMID:26315354|PMID:26467025|PMID:27443514|PMID:28492532|PMID:29596542|PMID:32268276|PMID:33118316|PMID:33471991|PMID:34326862
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:0080410	familial adenomatous polyposis 2		ISO	RGD:736238	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis	PMID:25085752|PMID:25186627|PMID:25741868|PMID:26315354|PMID:26467025|PMID:27443514|PMID:28492532|PMID:29596542|PMID:32268276|PMID:33118316|PMID:33471991|PMID:34326862
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:10534	stomach cancer		ISO	RGD:736238	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:20077502|PMID:21344236|PMID:25741868|PMID:28492532|PMID:36988593
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:1115	sarcoma		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:11830	myopia		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532|PMID:31371347
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:21344236|PMID:24033266|PMID:25741868|PMID:25994375|PMID:26329992|PMID:26467025|PMID:26787654|PMID:28492532|PMID:28821472|PMID:30374176|PMID:34824355
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:1324	lung cancer		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: tumor	PMID:20077502|PMID:21344236|PMID:25452441|PMID:25741868|PMID:26845104|PMID:28492532|PMID:29478780|PMID:29758562|PMID:30925164|PMID:31371347|PMID:35101336|PMID:37149759|PMID:39684258
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:1520	colon carcinoma		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon carcinoma	PMID:25741868|PMID:26350354|PMID:28492532|PMID:31371347
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:1596	depressive disorder		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:1612	breast cancer		ISO	RGD:736238	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:11807980|PMID:14550946|PMID:15342711|PMID:15855157|PMID:16061562|PMID:16333312|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24123366|PMID:24454733|PMID:25186627|PMID:25288723|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26786923|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979391|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28301456|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28873162|PMID:28888541|PMID:29292755|PMID:29596542|PMID:29625052|PMID:29785153|PMID:29858377|PMID:29905759|PMID:29922827|PMID:30067863|PMID:30374176|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31371347|PMID:31666926|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:34754157|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:1612	breast cancer		ISO	RGD:736238	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:11807980|PMID:14550946|PMID:15342711|PMID:15855157|PMID:16061562|PMID:16333312|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24123366|PMID:24454733|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25326637|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28301456|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28873162|PMID:28888541|PMID:29292755|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30374176|PMID:30781715|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31371347|PMID:31666926|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33598691|PMID:34196900|PMID:34326862|PMID:34754157|PMID:34906988|PMID:35264596|PMID:36187937|PMID:36988593|PMID:37149759|PMID:37337119|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:1612	breast cancer		ISO	RGD:736238	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:11807980|PMID:14550946|PMID:15342711|PMID:15855157|PMID:16061562|PMID:16333312|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24123366|PMID:24454733|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28301456|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28873162|PMID:28888541|PMID:29292755|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30374176|PMID:30781715|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31371347|PMID:31666926|PMID:31794323|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33099839|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33598691|PMID:34196900|PMID:34326862|PMID:34371384|PMID:34754157|PMID:34824355|PMID:34906988|PMID:35264596|PMID:35534704|PMID:35833951|PMID:36187937|PMID:36988593|PMID:37149759|PMID:37337119|PMID:38153744|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:1612	breast cancer		ISO	RGD:736238	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:12832489|PMID:16061562|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:20077502|PMID:21344236|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24454733|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26738429|PMID:26787654|PMID:26898890|PMID:26976419|PMID:27009842|PMID:27153395|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28873162|PMID:28888541|PMID:29292755|PMID:29368341|PMID:29596542|PMID:29625052|PMID:29700634|PMID:29790872|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30925164|PMID:30947698|PMID:31036035|PMID:31118792|PMID:31142030|PMID:31173646|PMID:31341520|PMID:31371347|PMID:31871109|PMID:32268276|PMID:32338768|PMID:32566746|PMID:32679805|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32984025|PMID:32986223|PMID:33099839|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33598691|PMID:33606978|PMID:33804961|PMID:34102105|PMID:34326862|PMID:34824355|PMID:34887416|PMID:35402282|PMID:35626031|PMID:35892882|PMID:36187937|PMID:36315097|PMID:36845387|PMID:36988593|PMID:37239058|PMID:37563628|PMID:37688579|PMID:37762649|PMID:38990952|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:1612	breast cancer	no_association	ISO	RGD:736238	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.C557S (human)	PMID:17333333|REF_RGD_ID:2315714
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:1612	breast cancer	no_association	ISO	RGD:736238	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :multiple (human)	PMID:17972171|REF_RGD_ID:2315715
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:1612	breast cancer	no_association	ISO	RGD:736238	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :p.V507M, p.C557S (human)	PMID:16333312|REF_RGD_ID:2315717
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:1612	breast cancer	severity	ISO	RGD:736238	D	RGD:9068941	20200609	RGD		protein:increased expression, altered localization:breast	PMID:16152612|REF_RGD_ID:2315727
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:736238	D	RGD:7240710	20230505	OMIM			
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:1826	epilepsy		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:21344236|PMID:24033266|PMID:25741868|PMID:25994375|PMID:26329992|PMID:26467025|PMID:26787654|PMID:28492532|PMID:28821472|PMID:30374176|PMID:34824355
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:1909	melanoma		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:2030	anxiety disorder		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:2394	ovarian cancer		ISO	RGD:736238	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer	PMID:25085752|PMID:25741868|PMID:25980754|PMID:26010302|PMID:26467025|PMID:26787654|PMID:28492532|PMID:28912018|PMID:34646395|PMID:35595798
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:3275	thymoma		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:3459	breast carcinoma		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:16199547|PMID:17550235|PMID:17848578|PMID:20077502|PMID:21344236|PMID:25452441|PMID:25741868|PMID:26315354|PMID:26350354|PMID:26467025|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26738429|PMID:28492532|PMID:28888541|PMID:29790872|PMID:30613976|PMID:30925164|PMID:31036035|PMID:31173646|PMID:31371347|PMID:33099839|PMID:33471991|PMID:33598691|PMID:35626031
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:736238	D	RGD:9068941	20210604	RGD			PMID:21815143|REF_RGD_ID:127229947
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:4362	cervical cancer		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736238	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome	PMID:12832489|PMID:15855157|PMID:16199547|PMID:17550235|PMID:17848578|PMID:19139070|PMID:20077502|PMID:21344236|PMID:22006311|PMID:23056176|PMID:23334666|PMID:25186627|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26720728|PMID:26738429|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27443514|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29700634|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:32295079|PMID:32566746|PMID:32832836
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32566746|PMID:32726901|PMID:32832836|PMID:33471991|PMID:33552952|PMID:9425226
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32566746|PMID:32726901|PMID:32832836|PMID:33471991|PMID:33552952|PMID:9425226
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29625052|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32566746|PMID:32726901|PMID:32832836|PMID:32980694|PMID:33471991|PMID:33498765|PMID:33552952|PMID:34034685|PMID:9425226
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29625052|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32726901|PMID:32832836|PMID:32980694|PMID:33471991|PMID:33498765|PMID:33552952|PMID:34034685|PMID:9425226
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34250417|PMID:34754157|PMID:9425226
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34250417|PMID:34754157|PMID:9425226
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34250417|PMID:34754157|PMID:9425226
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34754157|PMID:9425226
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34754157|PMID:36988593|PMID:9425226
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34754157|PMID:36988593|PMID:9425226
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34754157|PMID:35264596|PMID:36988593|PMID:9425226
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34754157|PMID:35264596|PMID:35734982|PMID:36988593|PMID:9425226
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28912018|PMID:29292755|PMID:29338689|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34326862|PMID:34646395|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:36988593|PMID:37239058|PMID:37563628|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28912018|PMID:29292755|PMID:29338689|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34326862|PMID:34646395|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:36988593|PMID:37239058|PMID:37563628|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28912018|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34326862|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:36988593|PMID:37239058|PMID:37563628|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28912018|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:31887429|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34326862|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35534704|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:36187937|PMID:36243179|PMID:36833268|PMID:36896836|PMID:36988593|PMID:37239058|PMID:37563628|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28724667|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28912018|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30927264|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:31887429|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34326862|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35534704|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:36187937|PMID:36243179|PMID:36833268|PMID:36896836|PMID:36988593|PMID:37239058|PMID:37563628|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28724667|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28912018|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30927264|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31142030|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:31887429|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32994724|PMID:33099839|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34196900|PMID:34204722|PMID:34250417|PMID:34326862|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34824355|PMID:34887416|PMID:34906988|PMID:35264596|PMID:35534704|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:36187937|PMID:36243179|PMID:36409970|PMID:36833268|PMID:36896836|PMID:36988593|PMID:37239058|PMID:37563628|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:24487277|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28724667|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28912018|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30781715|PMID:30925164|PMID:30927264|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31142030|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:31887429|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32994724|PMID:33099839|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34196900|PMID:34204722|PMID:34250417|PMID:34326862|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34824355|PMID:34887416|PMID:34906988|PMID:35264596|PMID:35534704|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35884425|PMID:35957908|PMID:36187937|PMID:36243179|PMID:36409970|PMID:36833268|PMID:36896836|PMID:36988593|PMID:37239058|PMID:37563628|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:24487277|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28724667|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28912018|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30781715|PMID:30925164|PMID:30927264|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31142030|PMID:31159747|PMID:31275557|PMID:31317629|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:31887429|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32994724|PMID:33099839|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34196900|PMID:34204722|PMID:34250417|PMID:34326862|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34824355|PMID:34887416|PMID:34906988|PMID:35264596|PMID:35534704|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35884425|PMID:35957908|PMID:36187937|PMID:36243179|PMID:36315097|PMID:36409970|PMID:36833268|PMID:36896836|PMID:36988593|PMID:37239058|PMID:37563628|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: RAD51D-related cancer predisposition	PMID:11807980|PMID:14550946|PMID:15342711|PMID:15855157|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16741161|PMID:17550235|PMID:17848578|PMID:17972171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:24487277|PMID:25085752|PMID:25186627|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27153395|PMID:27720647|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28492532|PMID:28724667|PMID:28821472|PMID:28888541|PMID:29292755|PMID:29338689|PMID:29367421|PMID:29752822|PMID:29790872|PMID:29905759|PMID:30374176|PMID:30441849|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31159747|PMID:31173646|PMID:31275557|PMID:31317629|PMID:31371347|PMID:31666926|PMID:31843900|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33099839|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34250417|PMID:34326862|PMID:34754157|PMID:34824355|PMID:35264596|PMID:35534704|PMID:35595798|PMID:35626031|PMID:35892882|PMID:36135357|PMID:36988593|PMID:37688579|PMID:37762649|PMID:38060977|PMID:38136308|PMID:38355628|PMID:39226054|PMID:9425226
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11807980|PMID:14550946|PMID:15342711|PMID:15855157|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16741161|PMID:17550235|PMID:17848578|PMID:17972171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:24487277|PMID:25085752|PMID:25186627|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27153395|PMID:27720647|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28492532|PMID:28724667|PMID:28821472|PMID:28888541|PMID:29292755|PMID:29338689|PMID:29367421|PMID:29752822|PMID:29790872|PMID:29905759|PMID:30374176|PMID:30441849|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31159747|PMID:31173646|PMID:31275557|PMID:31317629|PMID:31371347|PMID:31666926|PMID:31843900|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32566746|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33099839|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34250417|PMID:34326862|PMID:34754157|PMID:34824355|PMID:35264596|PMID:35534704|PMID:35595798|PMID:35626031|PMID:35892882|PMID:36135357|PMID:36988593|PMID:37688579|PMID:37762649|PMID:38060977|PMID:38136308|PMID:38355628|PMID:39226054|PMID:9425226
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736238	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11807980|PMID:14550946|PMID:15855157|PMID:16061562|PMID:16199547|PMID:17550235|PMID:17848578|PMID:17972171|PMID:19139070|PMID:20077502|PMID:20842729|PMID:21344236|PMID:23056176|PMID:23680151|PMID:24033266|PMID:24454733|PMID:24487277|PMID:25085752|PMID:25186627|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26738429|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979419|PMID:27443514|PMID:27621404|PMID:27720647|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28912018|PMID:29292755|PMID:29338689|PMID:29367421|PMID:29700634|PMID:29752822|PMID:29790872|PMID:29905759|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31275557|PMID:31317629|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32566746|PMID:32885271|PMID:32980694|PMID:33099839|PMID:33309985|PMID:33471991|PMID:33552952|PMID:33598691|PMID:33606809|PMID:34034685|PMID:34250417|PMID:34326862|PMID:34646395|PMID:34754157|PMID:34824355|PMID:34887416|PMID:35264596|PMID:35534704|PMID:35595798|PMID:35626031|PMID:36135357|PMID:36315097|PMID:36988593|PMID:38060977|PMID:38136308|PMID:38355628|PMID:39226054|PMID:9425226
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:769	neuroblastoma		ISO	RGD:736238	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19412175|PMID:23334666
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:8466	retinal degeneration		ISO	RGD:621072	D	RGD:9068941	20230525	RGD		associated with hyperaldosterone; mRNA:decreased expression:retina (rat)	PMID:29713904|REF_RGD_ID:152025547
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9001733	Tinnitus		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:21344236|PMID:24033266|PMID:25741868|PMID:25994375|PMID:26329992|PMID:26467025|PMID:26787654|PMID:28492532|PMID:28821472|PMID:30374176|PMID:34824355
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal neoplasm	PMID:25085752|PMID:25741868|PMID:28492532
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:736238	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian neoplasm	
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25085752|PMID:25741868|PMID:26315354|PMID:26467025|PMID:28492532|PMID:30925164
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9004745	RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES		ISO	RGD:621072	D	RGD:9068941	20230525	RGD		associated with hyperaldosterone; mRNA:decreased expression:retina (rat)	PMID:29713904|REF_RGD_ID:152025547
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:733490	D	RGD:9068941	20200609	RGD			PMID:18443292|REF_RGD_ID:2293149
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:21344236|PMID:24033266|PMID:25741868|PMID:25994375|PMID:26329992|PMID:26467025|PMID:26787654|PMID:28492532|PMID:28821472|PMID:30374176|PMID:31371347|PMID:34824355
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25085752|PMID:25741868|PMID:26467025|PMID:26787654|PMID:26976419|PMID:27720647|PMID:28492532|PMID:30925164|PMID:31159747|PMID:31275557|PMID:32039725|PMID:33471991|PMID:35264596|PMID:35534704|PMID:35595798|PMID:39226054
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736238	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:2007750|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30680046|PMID:30804502|PMID:30925164|PMID:31036035|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32658311|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32980694|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33692861|PMID:34034685|PMID:34102105|PMID:34359559|PMID:34906988|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736238	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:2007750|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30804502|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33646313|PMID:33692861|PMID:34034685|PMID:34102105|PMID:34250417|PMID:34359559|PMID:34754157|PMID:34906988|PMID:35402282|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736238	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33646313|PMID:33692861|PMID:34034685|PMID:34102105|PMID:34196900|PMID:34250417|PMID:34359559|PMID:34754157|PMID:34906988|PMID:35402282|PMID:36187937|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736238	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33621668|PMID:33646313|PMID:33692861|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34196900|PMID:34250417|PMID:34359559|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35402282|PMID:35595798|PMID:35768576|PMID:35957908|PMID:36187937|PMID:36988593|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736238	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33621668|PMID:33646313|PMID:33692861|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34196900|PMID:34250417|PMID:34359559|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35402282|PMID:35595798|PMID:35768576|PMID:35957908|PMID:36187937|PMID:36988593|PMID:37149759|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736238	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30422164|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33574475|PMID:33606809|PMID:33621668|PMID:33646313|PMID:33692861|PMID:33809641|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34153142|PMID:34196900|PMID:34250417|PMID:34359559|PMID:34371384|PMID:34646395|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35402282|PMID:35495172|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:36187937|PMID:36243179|PMID:36988593|PMID:37149759|PMID:37262986|PMID:37337119|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736238	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:251316|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27854218|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29263802|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:29982661|PMID:30067863|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30422164|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33118316|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33574475|PMID:33598691|PMID:33606809|PMID:33606978|PMID:33621668|PMID:33646313|PMID:33692861|PMID:33804961|PMID:33809641|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34153142|PMID:34196900|PMID:34250417|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35495172|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:35980532|PMID:36187937|PMID:36243179|PMID:36315513|PMID:36672847|PMID:36980780|PMID:36988593|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37337119|PMID:37563628|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736238	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:251316|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29263802|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:29982661|PMID:30067863|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30422164|PMID:30441849|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33118316|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33574475|PMID:33598691|PMID:33606809|PMID:33606978|PMID:33621668|PMID:33646313|PMID:33692861|PMID:33804961|PMID:33809641|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34153142|PMID:34196900|PMID:34250417|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34906988|PMID:35079693|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35495172|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:35980532|PMID:36187937|PMID:36243179|PMID:36315513|PMID:36672847|PMID:36980780|PMID:36988593|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37337119|PMID:37563628|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736238	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:251316|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29263802|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:29982661|PMID:30067863|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30422164|PMID:30441849|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33118316|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33574475|PMID:33598691|PMID:33606809|PMID:33606978|PMID:33621668|PMID:33646313|PMID:33692861|PMID:33804961|PMID:33809641|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34153142|PMID:34196900|PMID:34250417|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34906988|PMID:35079693|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35495172|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:35980532|PMID:36187937|PMID:36243179|PMID:36315513|PMID:36672847|PMID:36980780|PMID:36988593|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37337119|PMID:37563628|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736238	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:251316|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29263802|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:29982661|PMID:30067863|PMID:30093976|PMID:30130155|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30422164|PMID:30441849|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31794323|PMID:31803232|PMID:31819260|PMID:31843900|PMID:31871109|PMID:31887429|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33118316|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33574475|PMID:33598691|PMID:33606809|PMID:33606978|PMID:33621668|PMID:33646313|PMID:33692861|PMID:33804961|PMID:33809641|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34153142|PMID:34196900|PMID:34250417|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34887416|PMID:34906988|PMID:35079693|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35495172|PMID:35534704|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35833951|PMID:35884425|PMID:35957908|PMID:35980532|PMID:36187937|PMID:36243179|PMID:36315513|PMID:36672847|PMID:36833268|PMID:36896836|PMID:36922933|PMID:36980780|PMID:36988593|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37337119|PMID:37563628|PMID:37936247|PMID:38136308|PMID:38153744|PMID:38308423|PMID:38509102|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736238	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1|PMID:11807980|PMID:14550946|PMID:16061562|PMID:16199547|PMID:16651405|PMID:16825437|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18842000|PMID:19584272|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:23056176|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26022179|PMID:26083025|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26738429|PMID:26757417|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27621404|PMID:27720647|PMID:27878467|PMID:27978560|PMID:28030839|PMID:28135145|PMID:28152038|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28709830|PMID:28715532|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29292755|PMID:29367421|PMID:29596542|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29790872|PMID:29868112|PMID:29915797|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30833958|PMID:30925164|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31275557|PMID:31317629|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31742824|PMID:31803232|PMID:31871109|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32658311|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33099839|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33606978|PMID:33621668|PMID:33646313|PMID:33804961|PMID:34034685|PMID:34102105|PMID:34250417|PMID:34321665|PMID:34326862|PMID:34646395|PMID:34824355|PMID:34887416|PMID:34906988|PMID:35264596|PMID:35402282|PMID:35534704|PMID:35595798|PMID:35626031|PMID:35884425|PMID:35980532|PMID:36187937|PMID:36243179|PMID:36315097|PMID:36551643|PMID:36980780|PMID:36988593|PMID:38060977|PMID:38136308|PMID:39226054|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9007346	Cachexia		ISO	RGD:621072	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Hepatocellular;protein:increased expression:skeletal muscle	PMID:16685375|REF_RGD_ID:2315732
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9007736	Vertigo		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:21344236|PMID:24033266|PMID:25741868|PMID:25994375|PMID:26329992|PMID:26467025|PMID:26787654|PMID:28492532|PMID:28821472|PMID:30374176|PMID:34824355
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736238	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast neoplasm	PMID:25741868|PMID:28492532
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736238	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:11807980|PMID:11943588|PMID:12832489|PMID:14550946|PMID:14560035|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:19763152|PMID:20030863|PMID:20077502|PMID:20307669|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:22406018|PMID:22927429|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24302565|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:251316|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25640679|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26022179|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29180619|PMID:29263802|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29566657|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:29982661|PMID:30067863|PMID:30093976|PMID:30130155|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30422164|PMID:30441849|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31794323|PMID:31803232|PMID:31819260|PMID:31843900|PMID:31871109|PMID:31887429|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33118316|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33574475|PMID:33598691|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33692861|PMID:33804961|PMID:33809641|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34153142|PMID:34196900|PMID:34250417|PMID:34321665|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34789768|PMID:34887416|PMID:34906988|PMID:35079693|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35495172|PMID:35534704|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35833951|PMID:35884425|PMID:35957908|PMID:35980532|PMID:36187937|PMID:36243179|PMID:36315513|PMID:36672847|PMID:36833268|PMID:36896836|PMID:36922933|PMID:36980780|PMID:36988593|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37337119|PMID:37563628|PMID:37936247|PMID:38136308|PMID:38153744|PMID:38308423|PMID:38509102|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736238	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:11807980|PMID:11943588|PMID:12832489|PMID:14550946|PMID:14560035|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:19763152|PMID:20030863|PMID:20077502|PMID:20307669|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:22406018|PMID:22927429|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24302565|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:251316|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25640679|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26022179|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29180619|PMID:29263802|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29566657|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:29982661|PMID:30067863|PMID:30093976|PMID:30130155|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30422164|PMID:30441849|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30927264|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31794323|PMID:31803232|PMID:31819260|PMID:31843900|PMID:31871109|PMID:31887429|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33118316|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33574475|PMID:33598691|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33692861|PMID:33804961|PMID:33809641|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34153142|PMID:34196900|PMID:34250417|PMID:34321665|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34789768|PMID:34887416|PMID:34906988|PMID:35079693|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35495172|PMID:35534704|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35833951|PMID:35884425|PMID:35957908|PMID:35980532|PMID:36113475|PMID:36187937|PMID:36243179|PMID:36315513|PMID:36551643|PMID:36672847|PMID:36833268|PMID:36896836|PMID:36922933|PMID:36980780|PMID:36988593|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37337119|PMID:37563628|PMID:37936247|PMID:38136308|PMID:38153744|PMID:38308423|PMID:38509102|PMID:9425226
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736238	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736238	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:1|PMID:11807980|PMID:11943588|PMID:12832489|PMID:14550946|PMID:14560035|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:19763152|PMID:20030863|PMID:20077502|PMID:20307669|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:22406018|PMID:22927429|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24302565|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:251316|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25640679|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26022179|PMID:26075229|PMID:26083025|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29180619|PMID:29263802|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29566657|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:29982661|PMID:30067863|PMID:30093976|PMID:30130155|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30422164|PMID:30441849|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30927264|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31142030|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31794323|PMID:31803232|PMID:31819260|PMID:31843900|PMID:31871109|PMID:31887429|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:33099839|PMID:33118316|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33574475|PMID:33598691|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33692861|PMID:33804961|PMID:33809641|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34153142|PMID:34196900|PMID:34204722|PMID:34250417|PMID:34321665|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34789768|PMID:34824355|PMID:34887416|PMID:34906988|PMID:35079693|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35495172|PMID:35534704|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35833951|PMID:35884425|PMID:35957908|PMID:35980532|PMID:36113475|PMID:36187937|PMID:36243179|PMID:36315513|PMID:36409970|PMID:36551643|PMID:36672847|PMID:36833268|PMID:36896836|PMID:36922933|PMID:36980780|PMID:36988593|PMID:37149759|PMID:37239058
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736238	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:37262986|PMID:37337119|PMID:37563628|PMID:37936247|PMID:38136308|PMID:38153744|PMID:38308423|PMID:38509102|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736238	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:11807980|PMID:11943588|PMID:14550946|PMID:14560035|PMID:14578343|PMID:15782130|PMID:15855157|PMID:16061562|PMID:16199547|PMID:16651405|PMID:16825437|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18842000|PMID:19197335|PMID:19763152|PMID:20077502|PMID:20307669|PMID:20379136|PMID:20842729|PMID:21344236|PMID:22006311|PMID:22406018|PMID:23056176|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25058500|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25452441|PMID:25640679|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26022179|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26738429|PMID:26757417|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979419|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27621404|PMID:27720647|PMID:27878467|PMID:27978560|PMID:28030839|PMID:28135145|PMID:28152038|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28709830|PMID:28715532|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:29180619|PMID:29292755|PMID:29367421|PMID:29596542|PMID:29700634|PMID:29752822|PMID:29790872|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30093976|PMID:30130155|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31275557|PMID:31317629|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32984025|PMID:33099839|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33804961|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34250417|PMID:34321665|PMID:34326862|PMID:34646395|PMID:34789768|PMID:34824355|PMID:34887416|PMID:35101336|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35534704|PMID:35595798|PMID:35626031|PMID:35884425|PMID:35957908|PMID:35980532|PMID:36113475|PMID:36187937|PMID:36243179|PMID:36315097|PMID:36980780|PMID:36988593|PMID:38060977|PMID:38355628|PMID:39226054|PMID:9425226|PMID:9536098
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9256	colorectal cancer		ISO	RGD:736238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:26350354|PMID:28492532|PMID:31371347
8704601	Bard1	BRCA1 associated RING domain 1	gene	DOID:9538	multiple myeloma		ISO	RGD:736238	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
8704622	Cenpk	centromere protein K	gene	DOID:0080909	castration-resistant prostate carcinoma		ISO	RGD:1605966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29581250
8704622	Cenpk	centromere protein K	gene	DOID:4362	cervical cancer		ISO	RGD:1605966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8704622	Cenpk	centromere protein K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704622	Cenpk	centromere protein K	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8704622	Cenpk	centromere protein K	gene	DOID:9256	colorectal cancer		ISO	RGD:1605966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8704636	Shf	Src homology 2 domain containing F	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8704636	Shf	Src homology 2 domain containing F	gene	DOID:10534	stomach cancer		ISO	RGD:1602197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8704636	Shf	Src homology 2 domain containing F	gene	DOID:1115	sarcoma		ISO	RGD:1602197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8704636	Shf	Src homology 2 domain containing F	gene	DOID:1324	lung cancer		ISO	RGD:1602197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8704636	Shf	Src homology 2 domain containing F	gene	DOID:5041	esophageal cancer		ISO	RGD:1602197	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8704636	Shf	Src homology 2 domain containing F	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8704659	Mif4gd	MIF4G domain containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8704659	Mif4gd	MIF4G domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1606529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8704659	Mif4gd	MIF4G domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1606529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8704659	Mif4gd	MIF4G domain containing	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1606529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8704659	Mif4gd	MIF4G domain containing	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1606529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8704659	Mif4gd	MIF4G domain containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8704678	Llph	LLP homolog, long-term synaptic facilitation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8704678	Llph	LLP homolog, long-term synaptic facilitation factor	gene	DOID:10534	stomach cancer		ISO	RGD:1604260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8704678	Llph	LLP homolog, long-term synaptic facilitation factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8704678	Llph	LLP homolog, long-term synaptic facilitation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704678	Llph	LLP homolog, long-term synaptic facilitation factor	gene	DOID:6039	uveal melanoma		ISO	RGD:1604260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8704678	Llph	LLP homolog, long-term synaptic facilitation factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8704678	Llph	LLP homolog, long-term synaptic facilitation factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8704693	Ssh3	slingshot protein phosphatase 3	gene	DOID:1059	intellectual disability		ISO	RGD:1318592	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability syndrome	
8704693	Ssh3	slingshot protein phosphatase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8704693	Ssh3	slingshot protein phosphatase 3	gene	DOID:1115	sarcoma		ISO	RGD:1318592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8704693	Ssh3	slingshot protein phosphatase 3	gene	DOID:1324	lung cancer		ISO	RGD:1318592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8704693	Ssh3	slingshot protein phosphatase 3	gene	DOID:1909	melanoma		ISO	RGD:1318592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8704693	Ssh3	slingshot protein phosphatase 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8704693	Ssh3	slingshot protein phosphatase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8704693	Ssh3	slingshot protein phosphatase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8704693	Ssh3	slingshot protein phosphatase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704693	Ssh3	slingshot protein phosphatase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8704693	Ssh3	slingshot protein phosphatase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8704693	Ssh3	slingshot protein phosphatase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8704724	Tsnaxip1	translin associated factor X interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8704724	Tsnaxip1	translin associated factor X interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8704724	Tsnaxip1	translin associated factor X interacting protein 1	gene	DOID:10283	prostate cancer		ISO	RGD:1348366	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8704724	Tsnaxip1	translin associated factor X interacting protein 1	gene	DOID:10283	prostate cancer		ISO	RGD:1348366	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8704724	Tsnaxip1	translin associated factor X interacting protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8704724	Tsnaxip1	translin associated factor X interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8704724	Tsnaxip1	translin associated factor X interacting protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8704724	Tsnaxip1	translin associated factor X interacting protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8704724	Tsnaxip1	translin associated factor X interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704724	Tsnaxip1	translin associated factor X interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8704724	Tsnaxip1	translin associated factor X interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8704777	Myo1b	myosin IB	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8704777	Myo1b	myosin IB	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8704777	Myo1b	myosin IB	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8704777	Myo1b	myosin IB	gene	DOID:1115	sarcoma		ISO	RGD:735320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8704777	Myo1b	myosin IB	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8704777	Myo1b	myosin IB	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8704777	Myo1b	myosin IB	gene	DOID:4362	cervical cancer		ISO	RGD:735320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8704777	Myo1b	myosin IB	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8704777	Myo1b	myosin IB	gene	DOID:5041	esophageal cancer		ISO	RGD:735320	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8704777	Myo1b	myosin IB	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704777	Myo1b	myosin IB	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8704777	Myo1b	myosin IB	gene	DOID:9004657	Weight Gain		ISO	RGD:735320	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8704777	Myo1b	myosin IB	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:735320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8704777	Myo1b	myosin IB	gene	DOID:9005369	Hepatomegaly		ISO	RGD:735320	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
8704777	Myo1b	myosin IB	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8704777	Myo1b	myosin IB	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8704777	Myo1b	myosin IB	gene	DOID:9256	colorectal cancer		ISO	RGD:735320	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8704832	Bace1	beta-secretase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8704832	Bace1	beta-secretase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1606566	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16407166
8704832	Bace1	beta-secretase 1	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:1606566	D	RGD:9068941	20200609	RGD			PMID:12824768|REF_RGD_ID:1358439
8704832	Bace1	beta-secretase 1	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:1332039	D	RGD:9068941	20200609	RGD			PMID:29038004|REF_RGD_ID:13782077
8704832	Bace1	beta-secretase 1	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:2191	D	RGD:9068941	20200609	RGD			PMID:28763060|REF_RGD_ID:13782083
8704832	Bace1	beta-secretase 1	gene	DOID:1307	dementia	treatment	ISO	RGD:2191	D	RGD:9068941	20200609	RGD			PMID:28683457|REF_RGD_ID:13782142
8704832	Bace1	beta-secretase 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:2191	D	RGD:9068941	20250313	RGD		protein:increased expression:cerebellum, hippocampus, striatum	PMID:21345314|REF_RGD_ID:597830177
8704832	Bace1	beta-secretase 1	gene	DOID:1909	melanoma		ISO	RGD:1606566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8704832	Bace1	beta-secretase 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:2191	D	RGD:9068941	20200609	RGD		protein:increased activity,increased expression:brain cortex	PMID:15120577|REF_RGD_ID:13782170
8704832	Bace1	beta-secretase 1	gene	DOID:2491	sensory peripheral neuropathy		ISO	RGD:2191	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:dorsal root ganglion	PMID:28012171|REF_RGD_ID:13782150
8704832	Bace1	beta-secretase 1	gene	DOID:3275	thymoma		ISO	RGD:1606566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8704832	Bace1	beta-secretase 1	gene	DOID:5419	schizophrenia		ISO	RGD:1332039	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
8704832	Bace1	beta-secretase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704832	Bace1	beta-secretase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8704832	Bace1	beta-secretase 1	gene	DOID:9001585	Intraventricular Hemorrhage		ISO	RGD:2191	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus	PMID:30028260|REF_RGD_ID:13782136
8704832	Bace1	beta-secretase 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2191	D	RGD:9068941	20200609	RGD			PMID:28012171|REF_RGD_ID:13782150
8704832	Bace1	beta-secretase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:2191	D	RGD:9068941	20200609	RGD		associated with Sleep Deprivation	PMID:28455102|REF_RGD_ID:13782059
8704832	Bace1	beta-secretase 1	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:2191	D	RGD:9068941	20250313	RGD			PMID:30221701|PMID:33574912|REF_RGD_ID:597830178|REF_RGD_ID:597931096
8704832	Bace1	beta-secretase 1	gene	DOID:9007970	Chronic Cerebral Hypoperfusion		ISO	RGD:2191	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus	PMID:28683457|REF_RGD_ID:13782142
8704832	Bace1	beta-secretase 1	gene	DOID:9007980	Sleep Deprivation		ISO	RGD:2191	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:28455102|REF_RGD_ID:13782059
8704832	Bace1	beta-secretase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8704832	Bace1	beta-secretase 1	gene	DOID:9009105	HIV Encephalitis		ISO	RGD:1606566	D	RGD:9068941	20200609	RGD			PMID:29632166|REF_RGD_ID:13782045
8704832	Bace1	beta-secretase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8704858	Serpinb8	serpin family B member 8	gene	DOID:0060283	peeling skin syndrome		ISO	RGD:1320387	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8704858	Serpinb8	serpin family B member 8	gene	DOID:0070524	peeling skin syndrome 5		ISO	RGD:1320387	D	RGD:7240710	20190315	OMIM			
8704858	Serpinb8	serpin family B member 8	gene	DOID:0070524	peeling skin syndrome 5		ISO	RGD:1320387	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: PEELING SKIN SYNDROME 5 | ClinVar Annotator: match by term: Peeling skin syndrome 5 | ClinVar Annotator: match by term: SERPINB8-related condition	PMID:25741868|PMID:27476651|PMID:28492532
8704858	Serpinb8	serpin family B member 8	gene	DOID:10534	stomach cancer		ISO	RGD:1320387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8704858	Serpinb8	serpin family B member 8	gene	DOID:4362	cervical cancer		ISO	RGD:1320387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8704858	Serpinb8	serpin family B member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704858	Serpinb8	serpin family B member 8	gene	DOID:8893	psoriasis		ISO	RGD:1320387	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20953187
8704858	Serpinb8	serpin family B member 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8704877	LOC102028532	cytochrome b561	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8704877	LOC102028532	cytochrome b561	gene	DOID:3275	thymoma		ISO	RGD:1322199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8704877	LOC102028532	cytochrome b561	gene	DOID:4362	cervical cancer		ISO	RGD:1322199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8704877	LOC102028532	cytochrome b561	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8704877	LOC102028532	cytochrome b561	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8704877	LOC102028532	cytochrome b561	gene	DOID:9009252	Orthostatic Hypotension 2		ISO	RGD:1322199	D	RGD:7240710	20190315	OMIM			
8704877	LOC102028532	cytochrome b561	gene	DOID:9009252	Orthostatic Hypotension 2		ISO	RGD:1322199	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ORTHOSTATIC HYPOTENSION 2	
8704965	Cfap95	cilia and flagella associated protein 95	gene	DOID:1324	lung cancer		ISO	RGD:1605872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8704965	Cfap95	cilia and flagella associated protein 95	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704965	Cfap95	cilia and flagella associated protein 95	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8704975	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8704975	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:0080600	COVID-19		ISO	RGD:1318125	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8704975	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:10283	prostate cancer		ISO	RGD:1318125	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8704975	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:10283	prostate cancer		ISO	RGD:1318125	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8704975	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8704975	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8704975	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:1470	major depressive disorder		ISO	RGD:1318125	D	RGD:9068941	20260305	RGD		mRNA:decreased expression:blood	PMID:25226551|REF_RGD_ID:634888054
8704975	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:1909	melanoma		ISO	RGD:1318125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8704975	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:3275	thymoma		ISO	RGD:1318125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8704975	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318125	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8704975	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8704975	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8704975	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8704996	Tmem108	transmembrane protein 108	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8704996	Tmem108	transmembrane protein 108	gene	DOID:1909	melanoma		ISO	RGD:1604309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8704996	Tmem108	transmembrane protein 108	gene	DOID:3070	high grade glioma		ISO	RGD:1604309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8704996	Tmem108	transmembrane protein 108	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705018	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:0110406	retinitis pigmentosa 30		ISO	RGD:1319003	D	RGD:7240710	20180130	OMIM			
8705018	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:0110406	retinitis pigmentosa 30		ISO	RGD:1319003	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FSCN2-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 30 | ClinVar Annotator: match by term: Retinitis pigmentosa 30	PMID:25741868|PMID:28492532
8705018	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319003	D	RGD:9068941	20200609	RGD			PMID:11527955|REF_RGD_ID:1598962
8705018	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:11830	myopia		ISO	RGD:1319003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8705018	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:2742	auditory system disease		ISO	RGD:1319004	D	RGD:9068941	20220825	MouseDO			
8705018	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:5041	esophageal cancer		ISO	RGD:1319003	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8705018	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:8466	retinal degeneration		ISO	RGD:1319004	D	RGD:9068941	20220825	MouseDO			
8705018	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:8501	fundus dystrophy		ISO	RGD:1319003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:28492532|PMID:33946315
8705018	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8705018	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:9849	Meniere's disease		ISO	RGD:1319003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meniere disease	
8705018	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:9970	obesity		ISO	RGD:1319003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
8705041	Tomm5	translocase of outer mitochondrial membrane 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705041	Tomm5	translocase of outer mitochondrial membrane 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8705041	Tomm5	translocase of outer mitochondrial membrane 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8705053	Prlh	prolactin releasing hormone	gene	DOID:9970	obesity		ISO	RGD:1617091	D	RGD:9068941	20220825	MouseDO		OMIM:601665	
8705053	Prlh	prolactin releasing hormone	gene	DOID:9970	obesity		ISO	RGD:628634	D	RGD:9068941	20200609	RGD			PMID:15854142|REF_RGD_ID:1641829
8705067	Rab10	RAB10, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8705067	Rab10	RAB10, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8705067	Rab10	RAB10, member RAS oncogene family	gene	DOID:0081250	CIC-rearranged sarcoma		ISO	RGD:735722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CIC-DUX Sarcoma	
8705067	Rab10	RAB10, member RAS oncogene family	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8705067	Rab10	RAB10, member RAS oncogene family	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8705067	Rab10	RAB10, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705067	Rab10	RAB10, member RAS oncogene family	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:733173	D	RGD:9068941	20230701	RGD			PMID:34400126|REF_RGD_ID:329902072
8705067	Rab10	RAB10, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8705067	Rab10	RAB10, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8705077	Scara5	scavenger receptor class A member 5	gene	DOID:1324	lung cancer		ISO	RGD:1606661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8705077	Scara5	scavenger receptor class A member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1350483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:19522081|PMID:25741868|PMID:28488083|PMID:28492532|PMID:31440721|PMID:39616287
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1350483	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:0060170	generalized epilepsy with febrile seizures plus		ISO	RGD:737154	D	RGD:9068941	20260521	MouseDO		OMIM:604233 | OMIM:604403 | OMIM:609800 | OMIM:611277 | OMIM:612279 | OMIM:613828 | OMIM:613863	
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:0060475	myoclonic-atonic epilepsy		ISO	RGD:1350483	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy	PMID:18464934|PMID:19710327|PMID:25741868|PMID:28218389|PMID:28492532|PMID:37845033
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:0080455	developmental and epileptic encephalopathy 52		ISO	RGD:1350483	D	RGD:7240710	20190315	OMIM			
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:0080455	developmental and epileptic encephalopathy 52		ISO	RGD:1350483	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 52 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52	PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:12644745|PMID:14504340|PMID:14690046|PMID:15021241|PMID:15857929|PMID:16199547|PMID:16205844|PMID:16302872|PMID:16932562|PMID:17020904|PMID:17629415|PMID:17928445|PMID:18052691|PMID:18175077|PMID:18941776|PMID:19522081|PMID:19710327|PMID:19808477|PMID:20437590|PMID:20628201|PMID:21040232|PMID:21703448|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23182416|PMID:23527921|PMID:23584539|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:2486163|PMID:25253298|PMID:25421039|PMID:25741868|PMID:25827112|PMID:26467025|PMID:27207958|PMID:27216889|PMID:27277800|PMID:28218389|PMID:28331474|PMID:28492532|PMID:28681755|PMID:28717674|PMID:29056246|PMID:29655203|PMID:30660056|PMID:31069529|PMID:31440721|PMID:31980526|PMID:32466254|PMID:32931854|PMID:36011376|PMID:36288729|PMID:36291443|PMID:38174099|PMID:38880818|PMID:39363051|PMID:39787995|PMID:9461582|PMID:9539778|PMID:9697698
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1350483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1	PMID:28492532
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:0110087	asphyxiating thoracic dystrophy 3		ISO	RGD:1350483	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Short-rib polydactyly syndrome type I	PMID:19442771|PMID:19710327|PMID:23456818|PMID:25741868|PMID:28218389|PMID:28492532|PMID:37845033
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:0110222	Brugada syndrome 5		ISO	RGD:1350483	D	RGD:7240710	20180130	OMIM			
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:0110222	Brugada syndrome 5		ISO	RGD:1350483	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Brugada syndrome 5	PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:12644745|PMID:14504340|PMID:14690046|PMID:15021241|PMID:15857929|PMID:16199547|PMID:16205844|PMID:16302872|PMID:16932562|PMID:17020904|PMID:17576681|PMID:17629415|PMID:17928445|PMID:18052691|PMID:18175077|PMID:18464934|PMID:18941776|PMID:19522081|PMID:19710327|PMID:19808477|PMID:20437590|PMID:20628201|PMID:21040232|PMID:21703448|PMID:21994374|PMID:22247482|PMID:22292491|PMID:22425777|PMID:23148524|PMID:23182416|PMID:23527921|PMID:23584539|PMID:24033266|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:24848745|PMID:2486163|PMID:24981977|PMID:25253298|PMID:25421039|PMID:25741868|PMID:25827112|PMID:25998140|PMID:26129877|PMID:26467025|PMID:26704558|PMID:27207958|PMID:27216889|PMID:27277800|PMID:27707468|PMID:28074886|PMID:28218389|PMID:28331474|PMID:28449774|PMID:28492532|PMID:28681755|PMID:28717674|PMID:28726809|PMID:28837624|PMID:29056246|PMID:29358611|PMID:29572929|PMID:29655203|PMID:29758173|PMID:29915715|PMID:29924869|PMID:29992740|PMID:30182498|PMID:30660056|PMID:30847666|PMID:31069529|PMID:31440721|PMID:31729702|PMID:31980526|PMID:32466254|PMID:32593896|PMID:32613771|PMID:32651551|PMID:33049752|PMID:33552729|PMID:33901312|PMID:34034907|PMID:35886038|PMID:36011376|PMID:36288729|PMID:36291443|PMID:36413997|PMID:37845033|PMID:38174099|PMID:38539105|PMID:38880818|PMID:39363051|PMID:39787995|PMID:9461582|PMID:9536098|PMID:9539778|PMID:9697698
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:0111302	generalized epilepsy with febrile seizures plus 1		ISO	RGD:1350483	D	RGD:7240710	20180130	OMIM			
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:0111302	generalized epilepsy with febrile seizures plus 1		ISO	RGD:1350483	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1	PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:12644745|PMID:14504340|PMID:14690046|PMID:15021241|PMID:15857929|PMID:16199547|PMID:16205844|PMID:16302872|PMID:16932562|PMID:17020904|PMID:17629415|PMID:17928445|PMID:18052691|PMID:18175077|PMID:18941776|PMID:19710327|PMID:19808477|PMID:20437590|PMID:20628201|PMID:21040232|PMID:21703448|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23182416|PMID:23527921|PMID:23584539|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:24848745|PMID:2486163|PMID:25421039|PMID:25741868|PMID:25827112|PMID:26467025|PMID:26704558|PMID:27216889|PMID:27277800|PMID:28218389|PMID:28331474|PMID:28492532|PMID:28681755|PMID:28717674|PMID:29056246|PMID:29655203|PMID:30660056|PMID:31069529|PMID:31440721|PMID:31980526|PMID:32466254|PMID:32651551|PMID:33901312|PMID:36011376|PMID:36288729|PMID:36291443|PMID:38174099|PMID:38539105|PMID:38880818|PMID:39363051|PMID:39787995|PMID:9461582|PMID:9539778|PMID:9697698
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:10273	heart conduction disease		ISO	RGD:1350483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Conduction system disorder	PMID:25741868
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:10907	microcephaly		ISO	RGD:1350483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:19710327|PMID:25741868|PMID:28492532|PMID:28681755|PMID:39787995
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1350483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:12644745|PMID:14504340|PMID:14690046|PMID:15021241|PMID:15857929|PMID:16205844|PMID:16302872|PMID:16932562|PMID:17020904|PMID:17629415|PMID:17928445|PMID:18052691|PMID:18175077|PMID:18941776|PMID:19710327|PMID:20437590|PMID:20628201|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23527921|PMID:23584539|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:2486163|PMID:25421039|PMID:25741868|PMID:25827112|PMID:26467025|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28492532|PMID:28717674|PMID:29056246|PMID:32466254|PMID:36288729|PMID:36291443|PMID:9461582|PMID:9539778|PMID:9697698
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:11832	visual epilepsy		ISO	RGD:1350483	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15671291|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17928445|PMID:18941776|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20437590|PMID:20628201|PMID:206282012|PMID:20662403|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23182416|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24662403|PMID:24747835|PMID:25253298|PMID:25326637|PMID:25668026|PMID:25741868|PMID:25827112|PMID:26042039|PMID:26467025|PMID:27207958|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28492532|PMID:28837624|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:12849	autistic disorder		ISO	RGD:1350483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:12644745|PMID:14504340|PMID:14690046|PMID:15021241|PMID:15857929|PMID:16205844|PMID:16302872|PMID:16932562|PMID:17020904|PMID:17629415|PMID:17928445|PMID:18052691|PMID:18175077|PMID:18941776|PMID:19710327|PMID:20437590|PMID:20628201|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23527921|PMID:23584539|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:2486163|PMID:25421039|PMID:25741868|PMID:25827112|PMID:26467025|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28492532|PMID:28717674|PMID:29056246|PMID:29358611|PMID:29758173|PMID:32466254|PMID:33901312|PMID:36288729|PMID:36291443|PMID:9461582|PMID:9539778|PMID:9697698
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:1825	childhood absence epilepsy		ISO	RGD:1350483	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Childhood absence epilepsy	PMID:25741868|PMID:28492532
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:1826	epilepsy		ISO	RGD:1350483	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15671291|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17928445|PMID:18941776|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20437590|PMID:20628201|PMID:206282012|PMID:20662403|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23182416|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24662403|PMID:24747835|PMID:25253298|PMID:25668026|PMID:25741868|PMID:25827112|PMID:26042039|PMID:26467025|PMID:27207958|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28492532|PMID:28717674|PMID:28837624|PMID:29056246|PMID:32466254|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:1826	epilepsy		ISO	RGD:1350483	D	RGD:8554872	20221213	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:15671291|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20662403|PMID:23861362|PMID:24529773|PMID:24662403|PMID:25253298|PMID:25668026|PMID:25741868|PMID:26042039|PMID:26467025|PMID:27207958|PMID:28492532
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:1826	epilepsy		ISO	RGD:1350483	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:15671291|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20662403|PMID:23861362|PMID:24529773|PMID:24662403|PMID:25253298|PMID:25668026|PMID:25741868|PMID:26042039|PMID:26467025|PMID:27207958|PMID:28492532|PMID:28681755
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:1826	epilepsy		ISO	RGD:1350483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:19710327|PMID:25741868|PMID:28492532|PMID:28681755|PMID:39787995
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1350483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:12644745|PMID:14504340|PMID:14690046|PMID:15021241|PMID:15857929|PMID:16205844|PMID:16302872|PMID:16932562|PMID:17020904|PMID:17629415|PMID:17928445|PMID:18052691|PMID:18175077|PMID:18941776|PMID:19710327|PMID:20437590|PMID:20628201|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23527921|PMID:23584539|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:2486163|PMID:25421039|PMID:25741868|PMID:25827112|PMID:26467025|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28492532|PMID:28717674|PMID:29056246|PMID:32466254|PMID:36288729|PMID:36291443|PMID:9461582|PMID:9539778|PMID:9697698
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1350483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:17576681|PMID:26467025|PMID:28492532|PMID:9536098
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1350483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:25741868
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1350483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1350483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:17576681|PMID:26467025|PMID:28492532|PMID:9536098
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:1350483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:9000060	Cardiac Conduction Defect, Nonspecific		ISO	RGD:1350483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARDIAC CONDUCTION DEFECT, NONSPECIFIC	
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1350483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:24033266|PMID:28492532
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:9000184	Ventricular Fibrillation		ISO	RGD:1350483	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation	PMID:22987075|PMID:23861362|PMID:28492532|PMID:28600387
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1350483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:12644745|PMID:14504340|PMID:14690046|PMID:15021241|PMID:15857929|PMID:16205844|PMID:16302872|PMID:16932562|PMID:17020904|PMID:17629415|PMID:17928445|PMID:18052691|PMID:18175077|PMID:18941776|PMID:19710327|PMID:20437590|PMID:20628201|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23527921|PMID:23584539|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:2486163|PMID:25421039|PMID:25741868|PMID:25827112|PMID:26467025|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28492532|PMID:28717674|PMID:29056246|PMID:32466254|PMID:36288729|PMID:36291443|PMID:9461582|PMID:9539778|PMID:9697698
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:9002996	Familial Atrial Fibrillation 13		ISO	RGD:1350483	D	RGD:7240710	20180130	OMIM			
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:9002996	Familial Atrial Fibrillation 13		ISO	RGD:1350483	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation, familial, 13	PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:12644745|PMID:14504340|PMID:14690046|PMID:15021241|PMID:15857929|PMID:16205844|PMID:16302872|PMID:16932562|PMID:17020904|PMID:17629415|PMID:17928445|PMID:18052691|PMID:18175077|PMID:18464934|PMID:18941776|PMID:19710327|PMID:19808477|PMID:20437590|PMID:20628201|PMID:21040232|PMID:21703448|PMID:21994374|PMID:22247482|PMID:22292491|PMID:22425777|PMID:23182416|PMID:23527921|PMID:23584539|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:2486163|PMID:25421039|PMID:25741868|PMID:25827112|PMID:26467025|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28449774|PMID:28492532|PMID:28681755|PMID:28717674|PMID:29056246|PMID:29655203|PMID:29758173|PMID:31069529|PMID:31440721|PMID:31980526|PMID:32466254|PMID:36011376|PMID:36288729|PMID:36291443|PMID:38174099|PMID:38880818|PMID:39363051|PMID:39787995|PMID:9461582|PMID:9539778|PMID:9697698
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:9005162	Familial Atrial Fibrillation 1		ISO	RGD:1350483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation, familial, 1	PMID:28492532
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532|PMID:29358611|PMID:29758173|PMID:33901312
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:1350483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22155597
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:9007956	Febrile Seizures		ISO	RGD:1350483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25362483
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19710327|PMID:25741868|PMID:28492532|PMID:28681755|PMID:39787995
8705090	Scn1b	sodium voltage-gated channel beta subunit 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:3631	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart ventricle	PMID:22581745|REF_RGD_ID:6484255
8705109	Mrpl48	mitochondrial ribosomal protein L48	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8705109	Mrpl48	mitochondrial ribosomal protein L48	gene	DOID:1115	sarcoma		ISO	RGD:1316849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8705109	Mrpl48	mitochondrial ribosomal protein L48	gene	DOID:1909	melanoma		ISO	RGD:1316849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8705109	Mrpl48	mitochondrial ribosomal protein L48	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8705109	Mrpl48	mitochondrial ribosomal protein L48	gene	DOID:4362	cervical cancer		ISO	RGD:1316849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8705109	Mrpl48	mitochondrial ribosomal protein L48	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8705109	Mrpl48	mitochondrial ribosomal protein L48	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705109	Mrpl48	mitochondrial ribosomal protein L48	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8705109	Mrpl48	mitochondrial ribosomal protein L48	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8705109	Mrpl48	mitochondrial ribosomal protein L48	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8705126	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:0050729	Chanarin-Dorfman syndrome		ISO	RGD:1342875	D	RGD:7240710	20180130	OMIM			
8705126	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:0050729	Chanarin-Dorfman syndrome		ISO	RGD:1342875	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis	PMID:11590543|PMID:14708602|PMID:15136565|PMID:16199547|PMID:18339307|PMID:18682927|PMID:20022472|PMID:20520629|PMID:22373837|PMID:25741868|PMID:27025581|PMID:28492532|PMID:29130490|PMID:31883530|PMID:3354610|PMID:6181472
8705126	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:0050729	Chanarin-Dorfman syndrome		ISO	RGD:1342875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ABHD5-related condition | ClinVar Annotator: match by term: CHANARIN-DORFMAN SYNDROME | ClinVar Annotator: match by term: Chanarin-Dorfman Syndrome | ClinVar Annotator: match by term: Chanarin-Dorfman syndrome | ClinVar Annotator: match by term: Dorfman-Chanarin disease | ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis	PMID:11590543|PMID:14708602|PMID:15136565|PMID:16199547|PMID:18339307|PMID:18682927|PMID:22373837|PMID:25741868|PMID:26547112|PMID:27025581|PMID:28492532|PMID:29130490|PMID:31883530|PMID:3354610|PMID:545139|PMID:6181472|PMID:7362208
8705126	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:0050729	Chanarin-Dorfman syndrome		ISO	RGD:1342875	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ABHD5-related condition | ClinVar Annotator: match by term: CHANARIN-DORFMAN SYNDROME | ClinVar Annotator: match by term: Chanarin-Dorfman Syndrome | ClinVar Annotator: match by term: Chanarin-Dorfman syndrome | ClinVar Annotator: match by term: Dorfman-Chanarin disease | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis	PMID:11590543|PMID:14708602|PMID:16199547|PMID:18339307|PMID:18682927|PMID:22373837|PMID:25741868|PMID:26547112|PMID:28492532|PMID:29130490|PMID:31883530|PMID:6181472
8705126	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8705126	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:0060656	autosomal recessive congenital ichthyosis 1	susceptibility	ISO	RGD:1342875	D	RGD:9068941	20200609	RGD			PMID:11590543|REF_RGD_ID:1598668
8705126	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:1697	ichthyosis		ISO	RGD:1342875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis	PMID:22373837|PMID:25741868|PMID:28492532
8705126	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342875	D	RGD:9068941	20220721	RGD		human cells in mouse model	PMID:30842415|REF_RGD_ID:153002829
8705126	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:234	colon adenocarcinoma	disease_progression	ISO	RGD:1342875	D	RGD:9068941	20220721	RGD		mRNA:decreased expression:colon (human)	PMID:30842415|REF_RGD_ID:153002829
8705126	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1342875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8705126	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8705126	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1342875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8705126	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705126	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1342875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8705126	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:9006215	Exfoliative Dermatitis		ISO	RGD:1342875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Erythroderma	PMID:22373837|PMID:25741868|PMID:28492532
8705149	Rps6kl1	ribosomal protein S6 kinase like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8705149	Rps6kl1	ribosomal protein S6 kinase like 1	gene	DOID:1115	sarcoma		ISO	RGD:1319861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8705149	Rps6kl1	ribosomal protein S6 kinase like 1	gene	DOID:1324	lung cancer		ISO	RGD:1319861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8705149	Rps6kl1	ribosomal protein S6 kinase like 1	gene	DOID:1909	melanoma		ISO	RGD:1319861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8705149	Rps6kl1	ribosomal protein S6 kinase like 1	gene	DOID:3275	thymoma		ISO	RGD:1319861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8705149	Rps6kl1	ribosomal protein S6 kinase like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705149	Rps6kl1	ribosomal protein S6 kinase like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8705149	Rps6kl1	ribosomal protein S6 kinase like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8705185	Pot1	protection of telomeres 1	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1557758	D	RGD:9068941	20260625	MouseDO			
8705185	Pot1	protection of telomeres 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:16199547|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32155570
8705185	Pot1	protection of telomeres 1	gene	DOID:0080014	chromosomal disease		ISO	RGD:1344340	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23502782
8705185	Pot1	protection of telomeres 1	gene	DOID:0080212	polycystic kidney disease 4		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease 4	PMID:25741868|PMID:28492532|PMID:32155570|PMID:34193977|PMID:37466057|PMID:38254993|PMID:41564438
8705185	Pot1	protection of telomeres 1	gene	DOID:0081304	high-grade astrocytoma with piloid features		ISO	RGD:1344340	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: High-grade astrocytoma with piloid features	PMID:25741868|PMID:28492532|PMID:32155570
8705185	Pot1	protection of telomeres 1	gene	DOID:10041	dysplastic nevus syndrome		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: B-K MOLE SYNDROME	PMID:28492532
8705185	Pot1	protection of telomeres 1	gene	DOID:1037	lymphoid leukemia		ISO	RGD:1344340	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23502782|PMID:24292274
8705185	Pot1	protection of telomeres 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8705185	Pot1	protection of telomeres 1	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1344340	D	RGD:9068941	20220218	RGD			PMID:18425352|REF_RGD_ID:151356939
8705185	Pot1	protection of telomeres 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8705185	Pot1	protection of telomeres 1	gene	DOID:1115	sarcoma		ISO	RGD:1344340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:27528712|PMID:28492532|PMID:29625052|PMID:32155570
8705185	Pot1	protection of telomeres 1	gene	DOID:1324	lung cancer		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8705185	Pot1	protection of telomeres 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:24686849|PMID:35101336
8705185	Pot1	protection of telomeres 1	gene	DOID:1826	epilepsy		ISO	RGD:1344340	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: epilepsy	PMID:24686849|PMID:25482530|PMID:25741868|PMID:27329137|PMID:28492532|PMID:29036293|PMID:29522175|PMID:29550946|PMID:29625052|PMID:32155570|PMID:33054084|PMID:41564438
8705185	Pot1	protection of telomeres 1	gene	DOID:1909	melanoma		ISO	RGD:1344340	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic	PMID:24686846|PMID:25741868|PMID:28492532|PMID:30451293|PMID:30586141|PMID:34193977|PMID:37140166
8705185	Pot1	protection of telomeres 1	gene	DOID:1909	melanoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MELANOMA, MALIGNANT	PMID:28492532
8705185	Pot1	protection of telomeres 1	gene	DOID:1949	cholecystitis		ISO	RGD:1344340	D	RGD:9068941	20220218	RGD		mRNA:decreased expression:gall bladder	PMID:28643740|REF_RGD_ID:151356941
8705185	Pot1	protection of telomeres 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1344340	D	RGD:9068941	20220218	RGD		DNA:SNP: :rs116895242 (human)	PMID:27459707|REF_RGD_ID:151356949
8705185	Pot1	protection of telomeres 1	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:1344340	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita	PMID:25741868|PMID:28492532|PMID:30523342
8705185	Pot1	protection of telomeres 1	gene	DOID:3068	glioblastoma		ISO	RGD:1344340	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Glioblastoma, somatic	PMID:28492532
8705185	Pot1	protection of telomeres 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344340	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38688277|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344340	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36113475|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38688277|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344340	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9 | ClinVar Annotator: match by term: IDH1-related condition	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38688277|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344340	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9 | ClinVar Annotator: match by term: Malignant glioma	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38254993|PMID:38540414|PMID:38688277|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344340	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344340	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9 | ClinVar Annotator: match by term: Pediatric high-grade glioma	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32976206|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344340	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9 | ClinVar Annotator: match by term: Malignant glioma	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32976206|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:39315505|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344340	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32976206|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:39315505|PMID:40015989|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:17576681|PMID:24686846|PMID:24686849|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26467025|PMID:27528712|PMID:28492532|PMID:29523635|PMID:29693246|PMID:30414346|PMID:30523342|PMID:32155570|PMID:32325837|PMID:32907878|PMID:33216348|PMID:34193977|PMID:34769003|PMID:35456397|PMID:36539277|PMID:37466057|PMID:38254993|PMID:41564438|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:3275	thymoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:26467025|PMID:28492532
8705185	Pot1	protection of telomeres 1	gene	DOID:3459	breast carcinoma		ISO	RGD:1344340	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:27528712|PMID:28492532|PMID:29625052|PMID:32155570
8705185	Pot1	protection of telomeres 1	gene	DOID:3512	neurofibrosarcoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurofibrosarcoma	PMID:25741868|PMID:28492532|PMID:28853721|PMID:32720348|PMID:33050356
8705185	Pot1	protection of telomeres 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis	PMID:25741868
8705185	Pot1	protection of telomeres 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8705185	Pot1	protection of telomeres 1	gene	DOID:3963	thyroid gland carcinoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid gland carcinoma	PMID:25741868|PMID:28492532|PMID:28853721|PMID:32720348|PMID:33050356
8705185	Pot1	protection of telomeres 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:28492532
8705185	Pot1	protection of telomeres 1	gene	DOID:4362	cervical cancer		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532
8705185	Pot1	protection of telomeres 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8705185	Pot1	protection of telomeres 1	gene	DOID:4961	bone marrow disease		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	PMID:25741868|PMID:28492532|PMID:30523342
8705185	Pot1	protection of telomeres 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cirrhosis	PMID:25741868
8705185	Pot1	protection of telomeres 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8705185	Pot1	protection of telomeres 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:26467025|PMID:28492532
8705185	Pot1	protection of telomeres 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8705185	Pot1	protection of telomeres 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8705185	Pot1	protection of telomeres 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1344340	D	RGD:9068941	20220602	RGD		associated with hepatitis B;DNA:SNP: :rs7784168(human)	PMID:23907815|REF_RGD_ID:152975963
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:7240710	20231004	OMIM			
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30975761|PMID:31919090|PMID:32155570|PMID:33119245|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:32155570|PMID:32325837|PMID:32907878|PMID:33119245|PMID:33216348|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:32155570|PMID:32325837|PMID:32907878|PMID:33119245|PMID:33216348|PMID:34193977|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:34193977|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:34193977|PMID:35727838|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:37140166|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38688277|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36113475|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38688277|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38688277|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38254993|PMID:38540414|PMID:38688277|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32976206|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32976206|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:39315505|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32976206|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:39315505|PMID:40015989|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:17576681|PMID:24686846|PMID:24686849|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26467025|PMID:27528712|PMID:28492532|PMID:29523635|PMID:29693246|PMID:30414346|PMID:30523342|PMID:32155570|PMID:32325837|PMID:32907878|PMID:33216348|PMID:34193977|PMID:34769003|PMID:35456397|PMID:36539277|PMID:37466057|PMID:38254993|PMID:41564438|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:8923	skin melanoma		ISO	RGD:1344340	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:24686846|PMID:25741868|PMID:28492532|PMID:30451293|PMID:30586141|PMID:34193977|PMID:37140166
8705185	Pot1	protection of telomeres 1	gene	DOID:8923	skin melanoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY	PMID:28492532
8705185	Pot1	protection of telomeres 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:24686849|PMID:25252913|PMID:25741868|PMID:28492532|PMID:29625052|PMID:32155570|PMID:36113475|PMID:41564438
8705185	Pot1	protection of telomeres 1	gene	DOID:9000987	Cerebroretinal Microangiopathy with Calcifications and Cysts 3		ISO	RGD:1344340	D	RGD:7240710	20231004	OMIM			
8705185	Pot1	protection of telomeres 1	gene	DOID:9000987	Cerebroretinal Microangiopathy with Calcifications and Cysts 3		ISO	RGD:1344340	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3	PMID:17576681|PMID:24686849|PMID:25482530|PMID:25741868|PMID:26467025|PMID:27329137|PMID:28492532|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29550946|PMID:29625052|PMID:32155570|PMID:33054084|PMID:34193977|PMID:41564438|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:9001272	Hoyeraal-Hreidarsson Syndrome		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia with pancytopenia	PMID:24686849|PMID:25252913|PMID:25741868|PMID:28492532|PMID:29625052|PMID:32155570|PMID:36113475|PMID:41564438
8705185	Pot1	protection of telomeres 1	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1344340	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24686849
8705185	Pot1	protection of telomeres 1	gene	DOID:9004814	Chromosome Aberrations		ISO	RGD:1344340	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23502782
8705185	Pot1	protection of telomeres 1	gene	DOID:9005799	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8		ISO	RGD:1344340	D	RGD:7240710	20231004	OMIM			
8705185	Pot1	protection of telomeres 1	gene	DOID:9005799	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8		ISO	RGD:1344340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29523635|PMID:34193977|PMID:41564438|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:19461895|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26467025|PMID:27329137|PMID:27528712|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:32155570|PMID:32907878|PMID:33216348|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17576681|PMID:19461895|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:32155570|PMID:32907878|PMID:33119245|PMID:33216348|PMID:34193977|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:34193977|PMID:35727838|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:19461895|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36387164|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38254993|PMID:38540414|PMID:38688277|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:19461895|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36387164|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:19461895|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32976206|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36387164|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:39315505|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:19461895|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32976206|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36387164|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:39315505|PMID:40015989|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25252913|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29550946|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30523342|PMID:30556179|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:34193977|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36387164|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38688277|PMID:38724174|PMID:38839987|PMID:39315505|PMID:40015989|PMID:41136327|PMID:41564438|PMID:9536098
8705185	Pot1	protection of telomeres 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8705185	Pot1	protection of telomeres 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532
8705185	Pot1	protection of telomeres 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1344340	D	RGD:9068941	20220218	RGD		DNA:SNP: :rs116895242 (human)	PMID:27459707|REF_RGD_ID:151356949
8705185	Pot1	protection of telomeres 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1344340	D	RGD:9068941	20220218	RGD		DNA:SNP: :rs2975843 (human)	PMID:32586834|REF_RGD_ID:151356943
8705185	Pot1	protection of telomeres 1	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1344340	D	RGD:9068941	20220218	RGD		mRNA:increased expression:colorectum	PMID:25194444|REF_RGD_ID:151356940
8705185	Pot1	protection of telomeres 1	gene	DOID:9655	oral mucosa leukoplakia		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oral mucosa leukoplakia	PMID:25741868|PMID:28492532|PMID:30523342
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:0050430	multiple endocrine neoplasia type 2A		ISO	RGD:1353820	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a	PMID:28492532
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:0050741	alcohol dependence		ISO	RGD:1353820	D	RGD:9068941	20250301	RGD		DNA:SNP:CDS: (rs7592571)	PMID:21703634|REF_RGD_ID:597830064
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:0050744	anaplastic large cell lymphoma		ISO	RGD:1353820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16151469|PMID:19503098|PMID:21345110|PMID:22155737|PMID:22920921|PMID:22968692
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1353820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22474449
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:1353820	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:25741868|PMID:28492532
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1553242	D	RGD:9068941	20260319	MouseDO			
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1353820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:11830	myopia		ISO	RGD:1353820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:1324	lung cancer		ISO	RGD:1353820	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:22277784|PMID:24887559|PMID:25741868|PMID:26939704|PMID:28492532
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1353820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:21838707|PMID:22034911|PMID:22585002|PMID:25517749|PMID:25741868|PMID:26554404|PMID:26775591|PMID:27986745|PMID:28183697|PMID:28492532|PMID:30867766|PMID:31961053|PMID:33627640|PMID:34646012|PMID:35101336
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:1353820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:2030	anxiety disorder		ISO	RGD:1353820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:2394	ovarian cancer		ISO	RGD:1353820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:18923524|PMID:23104988|PMID:25741868|PMID:28492532
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:2769	tic disorder		ISO	RGD:1353820	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Phonic tics	PMID:25741868|PMID:32989326
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:1353820	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma	
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:3275	thymoma		ISO	RGD:1353820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:3459	breast carcinoma		ISO	RGD:1353820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:28492532
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:3677	pulmonary plasma cell granuloma		ISO	RGD:1353820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21430068
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous Cell Lung Carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1353820	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:17625570|PMID:20979469|PMID:20979473|PMID:21102269|PMID:21336183|PMID:21587085|PMID:21757253|PMID:21767331|PMID:21791641|PMID:21823889|PMID:21904575|PMID:21933749|PMID:22215748|PMID:22277784|PMID:22282074|PMID:22286583|PMID:22508824|PMID:22568572|PMID:22617245|PMID:22713522|PMID:22787409|PMID:22887466|PMID:22920921|PMID:22954507|PMID:22968692|PMID:22986231|PMID:23020724|PMID:23686600
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1353820	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1353820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1353820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22743654
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1353820	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:5193	nodular ganglioneuroblastoma		ISO	RGD:1353820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nodular ganglioneuroblastoma	PMID:18923523|PMID:18923524|PMID:21632861|PMID:23334666|PMID:25517749|PMID:27993330|PMID:30523111|PMID:33056981|PMID:34250410
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1353820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:769	neuroblastoma		ISO	RGD:1353820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuroblastoma	PMID:18923523|PMID:18923524|PMID:21632861|PMID:23334666|PMID:25517749|PMID:27993330|PMID:29084134|PMID:30523111|PMID:33056981|PMID:34250410|PMID:40036726
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1353820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1353820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22986231|PMID:22999080
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:9001733	Tinnitus		ISO	RGD:1353820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:9004794	Plasma Cell Granuloma		ISO	RGD:1353820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20979472|PMID:21030459|PMID:22920921
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1353820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22277784
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:9006684	Inflammatory Breast Neoplasms		ISO	RGD:1353820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22215853
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353820	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21637378|PMID:21804922|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22086496|PMID:22184391|PMID:22932897|PMID:23104988|PMID:23334666|PMID:23555315|PMID:24033266|PMID:24129244|PMID:24326041|PMID:24675991|PMID:24728327|PMID:25054154|PMID:25517749|PMID:25589003|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26002608|PMID:26503946|PMID:26554404|PMID:26580448|PMID:26619011|PMID:26696773|PMID:26829053|PMID:27132509|PMID:27153395|PMID:27179218|PMID:27930734|PMID:28185914|PMID:28492532|PMID:28756644|PMID:28873162|PMID:28975465|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29684080|PMID:30004444|PMID:30006516|PMID:30350464|PMID:30605844|PMID:30716324|PMID:30982079|PMID:30989433|PMID:32984025|PMID:33486679|PMID:33674381|PMID:33898318|PMID:9536098
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353820	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21637378|PMID:21804922|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22086496|PMID:22184391|PMID:22932897|PMID:23104988|PMID:23334666|PMID:23555315|PMID:24033266|PMID:24129244|PMID:24326041|PMID:24675991|PMID:24728327|PMID:25054154|PMID:25517749|PMID:25589003|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26002608|PMID:26554404|PMID:26580448|PMID:26619011|PMID:26696773|PMID:26829053|PMID:27132509|PMID:27153395|PMID:27179218|PMID:27930734|PMID:28185914|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29684080|PMID:30004444|PMID:30006516|PMID:30350464|PMID:30605844|PMID:30716324|PMID:30982079|PMID:30989433|PMID:32984025|PMID:33486679|PMID:33674381|PMID:33898318|PMID:9536098
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353820	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15517393|PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21637378|PMID:21804922|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22086496|PMID:22932897|PMID:23104988|PMID:23334666|PMID:23555315|PMID:24033266|PMID:24129244|PMID:24326041|PMID:24675991|PMID:24728327|PMID:25054154|PMID:25517749|PMID:25589003|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26002608|PMID:26554404|PMID:26580448|PMID:26696773|PMID:26829053|PMID:27132509|PMID:27153395|PMID:27179218|PMID:27930734|PMID:28185914|PMID:28202063|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29684080|PMID:30004444|PMID:30006516|PMID:30350464|PMID:30605844|PMID:30716324|PMID:30982079|PMID:30989433|PMID:32830346|PMID:32984025|PMID:33486679|PMID:33674381|PMID:33898318|PMID:35982322|PMID:36451132|PMID:9536098
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:22086496|PMID:23104988|PMID:23202128|PMID:23334666|PMID:24033266|PMID:24129244|PMID:24728327|PMID:25054154|PMID:25344691|PMID:25517749|PMID:25714698|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26032424|PMID:26374070|PMID:26580448|PMID:26669280|PMID:26696773|PMID:27149842|PMID:27153395|PMID:27179218|PMID:27285993|PMID:27930734|PMID:28177947|PMID:28185914|PMID:28202063|PMID:28492532|PMID:28756644|PMID:28873162|PMID:28975465|PMID:29625052|PMID:29641532|PMID:29654263|PMID:29684080|PMID:30006516|PMID:30410351|PMID:30716324|PMID:30982079|PMID:31340200|PMID:32984025|PMID:32984537|PMID:33486679|PMID:33606809|PMID:33674381|PMID:34646012|PMID:35101336|PMID:35534704|PMID:35980532|PMID:35982322|PMID:36451132|PMID:37522200|PMID:38662984|PMID:38874686|PMID:39315505|PMID:9536098
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1353820	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:22986231
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1353820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22286764|PMID:23104988
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:9007671	Familial Isolated Pituitary Adenoma		ISO	RGD:1353820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial isolated pituitary adenoma	PMID:25741868|PMID:28492532|PMID:32984025
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1353820	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:9009095	Neuroblastoma 3		ISO	RGD:1353820	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALK-related condition | ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 | ClinVar Annotator: match by term: neuroblastoma, susceptibility to, 3	PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:18990089|PMID:19763152|PMID:20307669|PMID:2086496|PMID:21030459|PMID:21242967|PMID:21632861|PMID:21637378|PMID:21804922|PMID:21838707|PMID:21972109|PMID:22034911|PMID:22086496|PMID:22406018|PMID:22810114|PMID:23104988|PMID:23202128|PMID:23334666|PMID:24033266|PMID:24129244|PMID:24205241|PMID:24675991|PMID:24728327|PMID:25054154|PMID:25344691|PMID:25435121|PMID:2551774|PMID:25517749|PMID:25640679|PMID:25714698|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26032424|PMID:26374070|PMID:26554404|PMID:26580448|PMID:26669280|PMID:26689913|PMID:26696773|PMID:27132509|PMID:27149842|PMID:27153395|PMID:27179218|PMID:27285993|PMID:27930734|PMID:27993330|PMID:28177947|PMID:28185914|PMID:28202063|PMID:28492532|PMID:28756644|PMID:28873162|PMID:28975465|PMID:29374774|PMID:29533785|PMID:29625052|PMID:29641532|PMID:29654263|PMID:29684080|PMID:29907598|PMID:30410351|PMID:30523111|PMID:30716324|PMID:30982079|PMID:30989433|PMID:31263571|PMID:31340200|PMID:31452835|PMID:32371905|PMID:32830346|PMID:32984025|PMID:32984537|PMID:32989326|PMID:33056981|PMID:33372952|PMID:33486679|PMID:33606809|PMID:33674381|PMID:33898318|PMID:34250410|PMID:34646012|PMID:35101336|PMID:35534704|PMID:35957908|PMID:35980532|PMID:35982322|PMID:36451132|PMID:37522200|PMID:38662984|PMID:38874686|PMID:39315505|PMID:9536098
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:9009095	Neuroblastoma 3	susceptibility	ISO	RGD:1353820	D	RGD:7240710	20190502	OMIM			
8705224	Alk	ALK receptor tyrosine kinase	gene	DOID:9834	hyperopia		ISO	RGD:1353820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
8705257	Nfrkb	nuclear factor related to kappaB binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8705257	Nfrkb	nuclear factor related to kappaB binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8705257	Nfrkb	nuclear factor related to kappaB binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8705257	Nfrkb	nuclear factor related to kappaB binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8705257	Nfrkb	nuclear factor related to kappaB binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8705257	Nfrkb	nuclear factor related to kappaB binding protein	gene	DOID:1909	melanoma		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8705257	Nfrkb	nuclear factor related to kappaB binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8705257	Nfrkb	nuclear factor related to kappaB binding protein	gene	DOID:3275	thymoma		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8705257	Nfrkb	nuclear factor related to kappaB binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8705257	Nfrkb	nuclear factor related to kappaB binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8705257	Nfrkb	nuclear factor related to kappaB binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1321531	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8705257	Nfrkb	nuclear factor related to kappaB binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705257	Nfrkb	nuclear factor related to kappaB binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8705257	Nfrkb	nuclear factor related to kappaB binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8705257	Nfrkb	nuclear factor related to kappaB binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8705295	Rnf216	ring finger protein 216	gene	DOID:0081284	rosette-forming glioneuronal tumor		ISO	RGD:1604006	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor	PMID:26822237
8705295	Rnf216	ring finger protein 216	gene	DOID:0111587	Gordon Holmes syndrome		ISO	RGD:1604006	D	RGD:7240710	20180130	OMIM			
8705295	Rnf216	ring finger protein 216	gene	DOID:0111587	Gordon Holmes syndrome		ISO	RGD:1604006	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome | ClinVar Annotator: match by term: GORDON HOLMES SYNDROME | ClinVar Annotator: match by term: Gordon Holmes syndrome | ClinVar Annotator: match by term: RNF216-related condition	PMID:23656588|PMID:25741868|PMID:28492532
8705295	Rnf216	ring finger protein 216	gene	DOID:10534	stomach cancer		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8705295	Rnf216	ring finger protein 216	gene	DOID:10579	leukodystrophy		ISO	RGD:1604006	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	
8705295	Rnf216	ring finger protein 216	gene	DOID:1115	sarcoma		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8705295	Rnf216	ring finger protein 216	gene	DOID:1909	melanoma		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8705295	Rnf216	ring finger protein 216	gene	DOID:3070	high grade glioma		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8705295	Rnf216	ring finger protein 216	gene	DOID:3275	thymoma		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8705295	Rnf216	ring finger protein 216	gene	DOID:5041	esophageal cancer		ISO	RGD:1604006	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8705295	Rnf216	ring finger protein 216	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705295	Rnf216	ring finger protein 216	gene	DOID:630	genetic disease		ISO	RGD:1604006	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8705295	Rnf216	ring finger protein 216	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8705295	Rnf216	ring finger protein 216	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8705314	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8705314	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1604035	D	RGD:9068941	20200609	RGD		DNA:SNPs: :	PMID:26740948|REF_RGD_ID:13463463
8705314	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:10534	stomach cancer		ISO	RGD:1604035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8705314	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8705314	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:1115	sarcoma		ISO	RGD:1604035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8705314	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:1324	lung cancer		ISO	RGD:1604035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8705314	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8705314	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8705314	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:4362	cervical cancer		ISO	RGD:1604035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8705314	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:5041	esophageal cancer		ISO	RGD:1604035	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8705314	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705314	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8705314	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:0060282	persistent hyperplastic primary vitreous		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous	PMID:22899577|PMID:25741868|PMID:25843205|PMID:28492532|PMID:29146883
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:0060971	interstitial lung disease 2		ISO	RGD:1604790	D	RGD:8554872	20240702	ClinVar		ClinVar Annotator: match by term: Interstitial lung disease 2	
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:22267198|PMID:22387016|PMID:25741868|PMID:28492532
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:1115	sarcoma		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:182	calcinosis		ISO	RGD:1604790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22267198
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:1826	epilepsy		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22267198|PMID:22387016|PMID:25741868|PMID:28492532
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:2493	gastric antral vascular ectasia		ISO	RGD:1604790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22267198
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:1604790	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita | ClinVar Annotator: match by term: dyskeratosis congenita	PMID:16199547|PMID:17576681|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23869908|PMID:24033266|PMID:2411576|PMID:24115768|PMID:25182133|PMID:25197929|PMID:25741868|PMID:25843205|PMID:26344056|PMID:28135719|PMID:28492532|PMID:28864049|PMID:29111009|PMID:29146883|PMID:29228254|PMID:29481669|PMID:30393977|PMID:30523342|PMID:3057194|PMID:30891747|PMID:31785789|PMID:33510405|PMID:33528536|PMID:34706368|PMID:35982159|PMID:37216690|PMID:9536098
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:3275	thymoma		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604790	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:5679	retinal disease		ISO	RGD:1604790	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:22267198|PMID:22387016|PMID:23869908|PMID:25741868|PMID:28492532
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:630	genetic disease		ISO	RGD:1604790	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23869908|PMID:25741868|PMID:28492532|PMID:30891747|PMID:34706368|PMID:37216690
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:6364	migraine		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:22267198|PMID:22387016|PMID:25741868|PMID:28492532
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:674	cleft palate		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:22899577|PMID:25741868|PMID:25843205|PMID:28492532|PMID:29146883
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:7736	retinal telangiectasia		ISO	RGD:1604790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22267198
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:22899577|PMID:25741868|PMID:25843205|PMID:28492532|PMID:29146883
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1604790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22267198
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:9003025	Cerebroretinal Microangiopathy with Calcifications and Cysts		ISO	RGD:1604790	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts | ClinVar Annotator: match by term: Coats plus syndrome	PMID:22267198|PMID:22387016|PMID:23220793|PMID:23869908|PMID:24033266|PMID:25182133|PMID:25741868|PMID:28492532|PMID:30891747
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:9003371	Cerebroretinal Microangiopathy with Calcifications and Cysts 1		ISO	RGD:1604790	D	RGD:7240710	20190501	OMIM			
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:9003371	Cerebroretinal Microangiopathy with Calcifications and Cysts 1		ISO	RGD:1604790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 | ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1	PMID:16199547|PMID:17576681|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23869908|PMID:24033266|PMID:2411576|PMID:24115768|PMID:25182133|PMID:25741868|PMID:25843205|PMID:26344056|PMID:28492532|PMID:28864049|PMID:29111009|PMID:29146883|PMID:29228254|PMID:29481669|PMID:3057194|PMID:30891747|PMID:31069529|PMID:32141364|PMID:33510405|PMID:33528536|PMID:34573280|PMID:34706368|PMID:35982159|PMID:36177296|PMID:37216690|PMID:9536098
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8705338	Ctc1	CST telomere replication complex component 1	gene	DOID:936	brain disease		ISO	RGD:1604790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22267198
8705375	Vmac	vimentin type intermediate filament associated coiled-coil protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705375	Vmac	vimentin type intermediate filament associated coiled-coil protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8705394	Il10	interleukin 10	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23962110
8705394	Il10	interleukin 10	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:8704212|REF_RGD_ID:11049460
8705394	Il10	interleukin 10	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:735591	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inflammatory bowel disease	PMID:11121048|PMID:14657422|PMID:14657427|PMID:17576681|PMID:18550579|PMID:25741868|PMID:26193622|PMID:28492532|PMID:30290665|PMID:9536098
8705394	Il10	interleukin 10	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:735591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inflammatory bowel disease	PMID:17576681|PMID:28492532|PMID:30290665|PMID:9536098
8705394	Il10	interleukin 10	gene	DOID:0050589	inflammatory bowel disease	no_association	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1800896 (human)	PMID:27468578|REF_RGD_ID:11534627
8705394	Il10	interleukin 10	gene	DOID:0050589	inflammatory bowel disease	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:31062617|REF_RGD_ID:14975125
8705394	Il10	interleukin 10	gene	DOID:0050827	rheumatic heart disease	no_association	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:16043936|REF_RGD_ID:1598626
8705394	Il10	interleukin 10	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:22143914|REF_RGD_ID:11049492
8705394	Il10	interleukin 10	gene	DOID:0050865	tongue squamous cell carcinoma	disease_progression	ISO	RGD:2886	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:17338814|REF_RGD_ID:8662972
8705394	Il10	interleukin 10	gene	DOID:0050866	oral squamous cell carcinoma	susceptibility	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-592A>C (human)	PMID:28157558|REF_RGD_ID:14975130
8705394	Il10	interleukin 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8705394	Il10	interleukin 10	gene	DOID:0051061	stroke		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:23981596|REF_RGD_ID:7364869
8705394	Il10	interleukin 10	gene	DOID:0051061	stroke	no_association	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:16323614|REF_RGD_ID:1598623
8705394	Il10	interleukin 10	gene	DOID:0051061	stroke	severity	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:15894335|REF_RGD_ID:1598629
8705394	Il10	interleukin 10	gene	DOID:0051061	stroke	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:23786953|REF_RGD_ID:7365015
8705394	Il10	interleukin 10	gene	DOID:0060180	colitis		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:22461024|REF_RGD_ID:7771532
8705394	Il10	interleukin 10	gene	DOID:0060180	colitis		ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:21949848|REF_RGD_ID:7349385
8705394	Il10	interleukin 10	gene	DOID:0060180	colitis		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:19238344|PMID:21807089|PMID:22119709|PMID:24314293
8705394	Il10	interleukin 10	gene	DOID:0060180	colitis	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:23771723|REF_RGD_ID:7365024
8705394	Il10	interleukin 10	gene	DOID:0060189	ileitis		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27580383
8705394	Il10	interleukin 10	gene	DOID:0060496	respiratory allergy		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:20583974|REF_RGD_ID:4140460
8705394	Il10	interleukin 10	gene	DOID:0060500	drug allergy		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19222424|PMID:20485159
8705394	Il10	interleukin 10	gene	DOID:0060901	lymphoplasmacytic lymphoma		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:19573080|REF_RGD_ID:11049165
8705394	Il10	interleukin 10	gene	DOID:0060903	thrombosis		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:12765335|REF_RGD_ID:1598469
8705394	Il10	interleukin 10	gene	DOID:0070344	ocular tuberculosis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:aqueous humor	PMID:22583692|REF_RGD_ID:7364832
8705394	Il10	interleukin 10	gene	DOID:0080158	herpes simplex virus keratitis	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:22467659|REF_RGD_ID:7364834
8705394	Il10	interleukin 10	gene	DOID:0080160	cytomegalovirus retinitis		ISO	RGD:10785	D	RGD:9068941	20200609	RGD		associated with Murine Acquired Immunodeficiency Syndrome	PMID:23415673|REF_RGD_ID:7364815
8705394	Il10	interleukin 10	gene	DOID:0080178	mucositis		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20881642
8705394	Il10	interleukin 10	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	severity	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		associated with morbid obesity	PMID:25894568|REF_RGD_ID:14975151
8705394	Il10	interleukin 10	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1082A>G (rs1800896) (human)	PMID:28852433|REF_RGD_ID:14975143
8705394	Il10	interleukin 10	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:2886	D	RGD:9068941	20250410	RGD			PMID:31861497|REF_RGD_ID:598130071
8705394	Il10	interleukin 10	gene	DOID:0080599	Coronavirus infectious disease		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:28493345|REF_RGD_ID:14975163
8705394	Il10	interleukin 10	gene	DOID:0080600	COVID-19		ISO	RGD:735591	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8705394	Il10	interleukin 10	gene	DOID:0080600	COVID-19		ISO	RGD:735591	D	RGD:9068941	20200820	RGD		protein:increased expression:plasma (human)	PMID:32696007|REF_RGD_ID:38501088
8705394	Il10	interleukin 10	gene	DOID:0080600	COVID-19		ISO	RGD:735591	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:31986264|PMID:32161940
8705394	Il10	interleukin 10	gene	DOID:0080600	COVID-19	severity	ISO	RGD:735591	D	RGD:9068941	20200619	RGD		protein:increased expression:plasma (human)	PMID:31986264|REF_RGD_ID:30309212
8705394	Il10	interleukin 10	gene	DOID:0080600	COVID-19	severity	ISO	RGD:735591	D	RGD:9068941	20200625	RGD		associated with cardiovascular system disease;protein:increased expression:blood (human)	PMID:32456948|REF_RGD_ID:30309957
8705394	Il10	interleukin 10	gene	DOID:0080600	COVID-19	severity	ISO	RGD:735591	D	RGD:9068941	20200625	RGD		protein:increased expression:serum (human)	PMID:32365221|REF_RGD_ID:30310229
8705394	Il10	interleukin 10	gene	DOID:0080642	Middle East respiratory syndrome		ISO	RGD:10785	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:32364527|REF_RGD_ID:27226699
8705394	Il10	interleukin 10	gene	DOID:0081120	Graves ophthalmopathy		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-819C>T (human)	PMID:21067483|REF_RGD_ID:7364859
8705394	Il10	interleukin 10	gene	DOID:0081120	Graves ophthalmopathy		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:11753760|REF_RGD_ID:7365083
8705394	Il10	interleukin 10	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:735591	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	
8705394	Il10	interleukin 10	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:735591	D	RGD:9068941	20260709	RGD			PMID:7833486|REF_RGD_ID:11049171
8705394	Il10	interleukin 10	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:735591	D	RGD:9068941	20260709	RGD		DNA:SNPs, haplotypes:promoter:-1082G>A (rs1800896), -819C>T (rs1800871), -592C>A (rs1800872) (human)	PMID:23645090|REF_RGD_ID:11049180
8705394	Il10	interleukin 10	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:735591	D	RGD:9068941	20260709	RGD		protein:decreased expression:serum	PMID:16928315|REF_RGD_ID:11049455
8705394	Il10	interleukin 10	gene	DOID:0081267	graft-versus-host disease	disease_progression	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1800872 (human)	PMID:19409109|REF_RGD_ID:11046269
8705394	Il10	interleukin 10	gene	DOID:0081267	graft-versus-host disease	no_association	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:polymorphisms	PMID:20195716|REF_RGD_ID:11049177
8705394	Il10	interleukin 10	gene	DOID:0081267	graft-versus-host disease	severity	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:repeat:promoter	PMID:9808588|REF_RGD_ID:2316565
8705394	Il10	interleukin 10	gene	DOID:0081267	graft-versus-host disease	susceptibility	ISO	RGD:735591	D	RGD:7240710	20260708	OMIM			
8705394	Il10	interleukin 10	gene	DOID:0081267	graft-versus-host disease	treatment	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:25034146|REF_RGD_ID:11041897
8705394	Il10	interleukin 10	gene	DOID:10140	dry eye syndrome		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		associated with Sjogren's Syndrome;protein:increased expression:tear	PMID:23752063|REF_RGD_ID:7364807
8705394	Il10	interleukin 10	gene	DOID:10247	pleurisy		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11181422
8705394	Il10	interleukin 10	gene	DOID:104	bacterial infectious disease		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		associated with Otitis Media	PMID:22668804|REF_RGD_ID:7364828
8705394	Il10	interleukin 10	gene	DOID:10459	common cold		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:20696083|REF_RGD_ID:4140458
8705394	Il10	interleukin 10	gene	DOID:10533	viral pneumonia	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:25219125|REF_RGD_ID:10450576
8705394	Il10	interleukin 10	gene	DOID:10534	stomach cancer		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:30610790|REF_RGD_ID:14975253
8705394	Il10	interleukin 10	gene	DOID:10534	stomach cancer		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-819C>T (rs1800871) (human)	PMID:28002581|REF_RGD_ID:14975135
8705394	Il10	interleukin 10	gene	DOID:10608	celiac disease		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:27545437|REF_RGD_ID:14975156
8705394	Il10	interleukin 10	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:735591	D	RGD:9068941	20200806	RGD		DNA:SNPs,haplotype: -1082G>A,  -819T>C, -592C>A (human)	PMID:14746878|REF_RGD_ID:1358665
8705394	Il10	interleukin 10	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:21803105|REF_RGD_ID:7364841
8705394	Il10	interleukin 10	gene	DOID:1067	open-angle glaucoma		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:23788371|REF_RGD_ID:7364852
8705394	Il10	interleukin 10	gene	DOID:10754	otitis media		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:18771082|REF_RGD_ID:7365029
8705394	Il10	interleukin 10	gene	DOID:10754	otitis media		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		associated with Haemophilus Infections	PMID:18524391|REF_RGD_ID:4891398
8705394	Il10	interleukin 10	gene	DOID:10754	otitis media		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		associated with Pneumococcal Infections;mRNA:increased expression:middle ear	PMID:14500471|REF_RGD_ID:7365082
8705394	Il10	interleukin 10	gene	DOID:10754	otitis media		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		associated with Pneumococcal Infections;protein:increased expression:middle ear, serum	PMID:23404508|REF_RGD_ID:7364816
8705394	Il10	interleukin 10	gene	DOID:10754	otitis media		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		associated with respiratory syncytial virus infectious disease, associated with common cold;DNA:SNPs, haplotypes:promoter:-1082G>A, -819T>C, -592A>C (human)	PMID:18560870|REF_RGD_ID:7365038
8705394	Il10	interleukin 10	gene	DOID:10754	otitis media	susceptibility	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1082G>A (human)	PMID:17908769|REF_RGD_ID:7365054
8705394	Il10	interleukin 10	gene	DOID:10763	hypertension		ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:19398662|REF_RGD_ID:2311047
8705394	Il10	interleukin 10	gene	DOID:10923	sickle cell anemia	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:24281564|REF_RGD_ID:11046271
8705394	Il10	interleukin 10	gene	DOID:11168	anogenital venereal wart		ISO	RGD:735591	D	RGD:9068941	20201105	RGD		mRNA,protein:increased expression:multiple (human)	PMID:23754510|REF_RGD_ID:40400714
8705394	Il10	interleukin 10	gene	DOID:11204	allergic conjunctivitis		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:19060266|REF_RGD_ID:7365027
8705394	Il10	interleukin 10	gene	DOID:11204	allergic conjunctivitis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:22092652|REF_RGD_ID:7364837
8705394	Il10	interleukin 10	gene	DOID:11204	allergic conjunctivitis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:tear	PMID:15144463|REF_RGD_ID:7365076
8705394	Il10	interleukin 10	gene	DOID:11204	allergic conjunctivitis	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:16914468|REF_RGD_ID:11041889
8705394	Il10	interleukin 10	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16613997|REF_RGD_ID:11049462
8705394	Il10	interleukin 10	gene	DOID:11265	trachoma		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:&#8722;1082G>A (human)	PMID:11023480|REF_RGD_ID:7365085
8705394	Il10	interleukin 10	gene	DOID:11265	trachoma		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:tear	PMID:18628987|REF_RGD_ID:7365037
8705394	Il10	interleukin 10	gene	DOID:11265	trachoma	no_association	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:&#8722;819T>C, &#8722;592A>C (human)	PMID:11023480|REF_RGD_ID:7365085
8705394	Il10	interleukin 10	gene	DOID:11265	trachoma	severity	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype:promoter:&#8722;1082G>A (human)	PMID:15789056|REF_RGD_ID:7365072
8705394	Il10	interleukin 10	gene	DOID:11265	trachoma	severity	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:haplotype: :	PMID:17947295|REF_RGD_ID:7365053
8705394	Il10	interleukin 10	gene	DOID:11394	adult respiratory distress syndrome	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD		associated with Sepsis	PMID:22037734|REF_RGD_ID:11049486
8705394	Il10	interleukin 10	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:22173123|REF_RGD_ID:7364836
8705394	Il10	interleukin 10	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD		associated with Constriction, Pathologic	PMID:22889616|REF_RGD_ID:7364826
8705394	Il10	interleukin 10	gene	DOID:11714	gestational diabetes		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:18446686|REF_RGD_ID:2308947
8705394	Il10	interleukin 10	gene	DOID:118	pericardial effusion	severity	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:16360340|REF_RGD_ID:1598622
8705394	Il10	interleukin 10	gene	DOID:12030	panuveitis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		associated with Multifocal Choroiditis;DNA:SNP:intron: (rs2222202) (human)	PMID:21357402|REF_RGD_ID:7364844
8705394	Il10	interleukin 10	gene	DOID:12132	granulomatosis with polyangiitis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:11838849|REF_RGD_ID:1580480
8705394	Il10	interleukin 10	gene	DOID:12134	factor VIII deficiency	treatment	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotypes:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human)	PMID:20082647|REF_RGD_ID:11049183
8705394	Il10	interleukin 10	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:735591	D	RGD:9068941	20200820	RGD		mRNA:increased expression:liver	PMID:17158635|REF_RGD_ID:38501106
8705394	Il10	interleukin 10	gene	DOID:12361	Graves' disease		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1800896 (human)	PMID:21424183|REF_RGD_ID:7364858
8705394	Il10	interleukin 10	gene	DOID:12361	Graves' disease		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-1082A>G, -819C>T, -592C>A (human)	PMID:19882211|REF_RGD_ID:7364862
8705394	Il10	interleukin 10	gene	DOID:12361	Graves' disease		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19250272|REF_RGD_ID:7365026
8705394	Il10	interleukin 10	gene	DOID:12361	Graves' disease	no_association	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:multiple	PMID:15497451|REF_RGD_ID:7365074
8705394	Il10	interleukin 10	gene	DOID:12385	shigellosis	treatment	ISO	RGD:10785	D	RGD:9068941	20201022	RGD			PMID:30615126|REF_RGD_ID:39938959
8705394	Il10	interleukin 10	gene	DOID:1273	respiratory syncytial virus infectious disease	severity	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:20209309|REF_RGD_ID:4140425
8705394	Il10	interleukin 10	gene	DOID:12732	intermediate uveitis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:aqueous humor	PMID:21850175|REF_RGD_ID:7364840
8705394	Il10	interleukin 10	gene	DOID:12849	autistic disorder		ISO	RGD:735591	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:16360218
8705394	Il10	interleukin 10	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:12233881|REF_RGD_ID:1580479
8705394	Il10	interleukin 10	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:heart left ventricle	PMID:19242323|REF_RGD_ID:2311057
8705394	Il10	interleukin 10	gene	DOID:13001	carotid stenosis	no_association	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:16804000|REF_RGD_ID:1598483
8705394	Il10	interleukin 10	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous humor	PMID:19700197|REF_RGD_ID:7364863
8705394	Il10	interleukin 10	gene	DOID:13141	uveitis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotypes:promoter, :rs2222202, rs3024490, rs6703630 (human)	PMID:20335604|REF_RGD_ID:7364845
8705394	Il10	interleukin 10	gene	DOID:13141	uveitis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:10865312|REF_RGD_ID:7365086
8705394	Il10	interleukin 10	gene	DOID:13241	Behcet's disease		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20622878|PMID:20622879
8705394	Il10	interleukin 10	gene	DOID:13241	Behcet's disease		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA, protein:hypermethylation, decreased expression:promoter, serum	PMID:29719061|REF_RGD_ID:14975149
8705394	Il10	interleukin 10	gene	DOID:13241	Behcet's disease	disease_progression	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:15980236|REF_RGD_ID:1598628
8705394	Il10	interleukin 10	gene	DOID:13241	Behcet's disease	onset	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:26654556|REF_RGD_ID:14975256
8705394	Il10	interleukin 10	gene	DOID:13241	Behcet's disease	susceptibility	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-592A>C (rs1800872) (human)	PMID:29294320|REF_RGD_ID:14975131
8705394	Il10	interleukin 10	gene	DOID:13241	Behcet's disease	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:21506890|REF_RGD_ID:7364843
8705394	Il10	interleukin 10	gene	DOID:13636	Fanconi anemia		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:24021704|REF_RGD_ID:11049161
8705394	Il10	interleukin 10	gene	DOID:1380	endometrial cancer		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:9119882|REF_RGD_ID:2317659
8705394	Il10	interleukin 10	gene	DOID:13891	bird fancier's lung		ISO	RGD:10785	D	RGD:9068941	20260207	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:31830693|REF_RGD_ID:632518366
8705394	Il10	interleukin 10	gene	DOID:14115	toxic shock syndrome		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:7593621|REF_RGD_ID:11049456
8705394	Il10	interleukin 10	gene	DOID:14115	toxic shock syndrome		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:12117955|REF_RGD_ID:1598471
8705394	Il10	interleukin 10	gene	DOID:14115	toxic shock syndrome		ISO	RGD:735591	D	RGD:9068941	20200806	RGD		protein:increased expression:plasma	PMID:25403265|REF_RGD_ID:38455982
8705394	Il10	interleukin 10	gene	DOID:14115	toxic shock syndrome	onset	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:12117955|REF_RGD_ID:1598471
8705394	Il10	interleukin 10	gene	DOID:14115	toxic shock syndrome	severity	ISO	RGD:10785	D	RGD:9068941	20201211	RGD		protein:increased expression:lung (mouse)	PMID:28659355|REF_RGD_ID:40890272
8705394	Il10	interleukin 10	gene	DOID:1417	choroid disease		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:rs6703630 (human)	PMID:21357402|REF_RGD_ID:7364844
8705394	Il10	interleukin 10	gene	DOID:1443	cerebral degeneration		ISO	RGD:2886	D	RGD:9068941	20260514	RGD		protein:increased expression:brain	PMID:19287312|REF_RGD_ID:713441781
8705394	Il10	interleukin 10	gene	DOID:1459	hypothyroidism		ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:24534949|REF_RGD_ID:11049472
8705394	Il10	interleukin 10	gene	DOID:1459	hypothyroidism	treatment	ISO	RGD:2886	D	RGD:9068941	20200903	RGD			PMID:29896255|REF_RGD_ID:38549578
8705394	Il10	interleukin 10	gene	DOID:14654	prostatitis		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland, serum	PMID:19213347|REF_RGD_ID:2311058
8705394	Il10	interleukin 10	gene	DOID:14654	prostatitis		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12050565
8705394	Il10	interleukin 10	gene	DOID:1470	major depressive disorder		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic;DNA:SNPs, haplotype:promoter:-592C>A, -���819C>T, -1082G>A (human)	PMID:30734130|REF_RGD_ID:14975122
8705394	Il10	interleukin 10	gene	DOID:1474	aggressive periodontitis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-592C>A (rs1800872) (human)	PMID:28662328|REF_RGD_ID:14975139
8705394	Il10	interleukin 10	gene	DOID:1474	aggressive periodontitis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protien:decreased expression:plasma	PMID:28868949|REF_RGD_ID:14975264
8705394	Il10	interleukin 10	gene	DOID:1574	alcohol use disorder		ISO	RGD:2886	D	RGD:9068941	20240120	RGD		mRNA:increased expression:liver	PMID:22269225|REF_RGD_ID:401959317
8705394	Il10	interleukin 10	gene	DOID:1580	diffuse scleroderma		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:9034992|REF_RGD_ID:5684371
8705394	Il10	interleukin 10	gene	DOID:1588	thrombocytopenia		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:11091188|REF_RGD_ID:11049172
8705394	Il10	interleukin 10	gene	DOID:1588	thrombocytopenia	severity	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		associated with Malaria, Vivax	PMID:25128199|REF_RGD_ID:11041893
8705394	Il10	interleukin 10	gene	DOID:1754	mitral valve stenosis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:16155388|REF_RGD_ID:1598624
8705394	Il10	interleukin 10	gene	DOID:1793	pancreatic cancer		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:30610790|REF_RGD_ID:14975253
8705394	Il10	interleukin 10	gene	DOID:1793	pancreatic cancer		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17235586|REF_RGD_ID:2317655
8705394	Il10	interleukin 10	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:30304975|REF_RGD_ID:14975257
8705394	Il10	interleukin 10	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :-1082G>A (human)	PMID:19250218|REF_RGD_ID:2317653
8705394	Il10	interleukin 10	gene	DOID:1883	hepatitis C		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:28340949|REF_RGD_ID:14975144
8705394	Il10	interleukin 10	gene	DOID:1883	hepatitis C		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19302182|REF_RGD_ID:2308942
8705394	Il10	interleukin 10	gene	DOID:1883	hepatitis C	no_association	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs1800896 (human)	PMID:28340949|REF_RGD_ID:14975144
8705394	Il10	interleukin 10	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:10785	D	RGD:9068941	20230930	RGD			PMID:29593532|REF_RGD_ID:401827839
8705394	Il10	interleukin 10	gene	DOID:2043	hepatitis B	no_association	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-592C>A (rs1800872), -819C>A  (rs1800871) (human)	PMID:27644568|REF_RGD_ID:14975150
8705394	Il10	interleukin 10	gene	DOID:2043	hepatitis B	treatment	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotypes:promoter:-1082G>A (rs1800896) (human)	PMID:27644568|REF_RGD_ID:14975150
8705394	Il10	interleukin 10	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21227906
8705394	Il10	interleukin 10	gene	DOID:219	colon cancer		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-592C>A (rs1800872) (human)	PMID:27468578|REF_RGD_ID:11534627
8705394	Il10	interleukin 10	gene	DOID:219	colon cancer	no_association	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1800896 (human)	PMID:27468578|REF_RGD_ID:11534627
8705394	Il10	interleukin 10	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:24053818|REF_RGD_ID:7364868
8705394	Il10	interleukin 10	gene	DOID:2349	arteriosclerosis		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:12765335|REF_RGD_ID:1598469
8705394	Il10	interleukin 10	gene	DOID:2349	arteriosclerosis	susceptibility	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:16523426|REF_RGD_ID:1598477
8705394	Il10	interleukin 10	gene	DOID:2355	anemia	severity	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		associated with Malaria;protein:decreased expression:plasma	PMID:9635949|REF_RGD_ID:11049182
8705394	Il10	interleukin 10	gene	DOID:2377	multiple sclerosis		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23517930
8705394	Il10	interleukin 10	gene	DOID:2394	ovarian cancer		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:9166545|REF_RGD_ID:2317660
8705394	Il10	interleukin 10	gene	DOID:2841	asthma		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:20237464|PMID:20644177|REF_RGD_ID:4140459|REF_RGD_ID:4140471
8705394	Il10	interleukin 10	gene	DOID:2841	asthma		ISO	RGD:2515	D	RGD:9068941	20200609	RGD			PMID:20560982|REF_RGD_ID:5131623
8705394	Il10	interleukin 10	gene	DOID:2841	asthma		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:20230687|REF_RGD_ID:4140421
8705394	Il10	interleukin 10	gene	DOID:2841	asthma		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29317916
8705394	Il10	interleukin 10	gene	DOID:2841	asthma		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:20121766|REF_RGD_ID:4140451
8705394	Il10	interleukin 10	gene	DOID:2841	asthma	susceptibility	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :-627C>A (human)	PMID:12938145|REF_RGD_ID:4143221
8705394	Il10	interleukin 10	gene	DOID:2841	asthma	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:21998459|REF_RGD_ID:11046261
8705394	Il10	interleukin 10	gene	DOID:2862	glucosephosphate dehydrogenase deficiency		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-592A>C (human)	PMID:15718915|REF_RGD_ID:11049178
8705394	Il10	interleukin 10	gene	DOID:2862	glucosephosphate dehydrogenase deficiency	no_association	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-1082G>A, -819T>C (human)	PMID:15718915|REF_RGD_ID:11049178
8705394	Il10	interleukin 10	gene	DOID:289	endometriosis		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30579999
8705394	Il10	interleukin 10	gene	DOID:289	endometriosis	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:21665488|REF_RGD_ID:11049494
8705394	Il10	interleukin 10	gene	DOID:2913	acute pancreatitis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1082G>A (human)	PMID:27173345|REF_RGD_ID:14975140
8705394	Il10	interleukin 10	gene	DOID:2913	acute pancreatitis	no_association	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter: -819T>C (human)	PMID:27173345|REF_RGD_ID:14975140
8705394	Il10	interleukin 10	gene	DOID:2921	glomerulonephritis		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10910440
8705394	Il10	interleukin 10	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:10785	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:32364527|REF_RGD_ID:27226699
8705394	Il10	interleukin 10	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:2886	D	RGD:9068941	20200702	RGD		protein:increased expression:serum, bronchoalveolar Lavage fluid (rat)	PMID:16409721|REF_RGD_ID:32726073
8705394	Il10	interleukin 10	gene	DOID:2945	severe acute respiratory syndrome	treatment	ISO	RGD:735591	D	RGD:9068941	20200702	RGD			PMID:15865221|REF_RGD_ID:33769580
8705394	Il10	interleukin 10	gene	DOID:3021	acute kidney failure		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18460982
8705394	Il10	interleukin 10	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15347381
8705394	Il10	interleukin 10	gene	DOID:3042	allergic contact dermatitis	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:23760007|REF_RGD_ID:7364806
8705394	Il10	interleukin 10	gene	DOID:3070	high grade glioma	susceptibility	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1800896 (human)	PMID:20406895|REF_RGD_ID:4140470
8705394	Il10	interleukin 10	gene	DOID:3229	gastric dilatation		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:30249047|REF_RGD_ID:14975138
8705394	Il10	interleukin 10	gene	DOID:3234	central nervous system lymphoma		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1082G>A (human)	PMID:22628023|REF_RGD_ID:7364831
8705394	Il10	interleukin 10	gene	DOID:3310	atopic dermatitis		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437
8705394	Il10	interleukin 10	gene	DOID:3310	atopic dermatitis	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:23843958|REF_RGD_ID:7364805
8705394	Il10	interleukin 10	gene	DOID:3393	coronary artery disease		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:16460885|REF_RGD_ID:1598621
8705394	Il10	interleukin 10	gene	DOID:3393	coronary artery disease	no_association	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-592C>A (rs1800872), -819C>T (rs1800871) (human)	PMID:29525679|REF_RGD_ID:14975129
8705394	Il10	interleukin 10	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1082A>G (rs1800896) (human)	PMID:29525679|REF_RGD_ID:14975129
8705394	Il10	interleukin 10	gene	DOID:3407	carotid artery disease		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:16801669|REF_RGD_ID:1598484
8705394	Il10	interleukin 10	gene	DOID:3525	middle cerebral artery infarction	ameliorates	ISO	RGD:10785	D	RGD:9068941	20230330	RGD			PMID:28630232|REF_RGD_ID:242905192
8705394	Il10	interleukin 10	gene	DOID:3526	cerebral infarction	treatment	ISO	RGD:10785	D	RGD:9068941	20220930	RGD			PMID:29111308|REF_RGD_ID:155260331
8705394	Il10	interleukin 10	gene	DOID:3571	liver cancer		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:30610790|REF_RGD_ID:14975253
8705394	Il10	interleukin 10	gene	DOID:3602	toxic encephalopathy	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:23916895|REF_RGD_ID:7364985
8705394	Il10	interleukin 10	gene	DOID:37	skin disease	severity	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		associated with Arsenic Poisoning	PMID:21357384|REF_RGD_ID:7364846
8705394	Il10	interleukin 10	gene	DOID:37	skin disease	susceptibility	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		associated with Arsenic Poisoning;DNA:SNP:promoter:&#8722;3575T>A (human)	PMID:21357384|REF_RGD_ID:7364846
8705394	Il10	interleukin 10	gene	DOID:3721	plasmacytoma		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:26140236|REF_RGD_ID:11049175
8705394	Il10	interleukin 10	gene	DOID:3825	Shwartzman phenomenon		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:7593621|REF_RGD_ID:11049456
8705394	Il10	interleukin 10	gene	DOID:3904	bronchus carcinoma		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:8030748|REF_RGD_ID:4143231
8705394	Il10	interleukin 10	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20471133
8705394	Il10	interleukin 10	gene	DOID:4362	cervical cancer	disease_progression	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:9541628|REF_RGD_ID:2317658
8705394	Il10	interleukin 10	gene	DOID:4404	occupational dermatitis		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29477354
8705394	Il10	interleukin 10	gene	DOID:4481	allergic rhinitis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:23883806|REF_RGD_ID:7364793
8705394	Il10	interleukin 10	gene	DOID:4481	allergic rhinitis		ISO	RGD:735591	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36127783
8705394	Il10	interleukin 10	gene	DOID:4481	allergic rhinitis	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:23253209|REF_RGD_ID:7364818
8705394	Il10	interleukin 10	gene	DOID:4780	anti-basement membrane glomerulonephritis	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:23826305|REF_RGD_ID:7365004
8705394	Il10	interleukin 10	gene	DOID:4948	gallbladder carcinoma	susceptibility	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		associated with Cholelithiasis	PMID:19065724|REF_RGD_ID:2317654
8705394	Il10	interleukin 10	gene	DOID:5041	esophageal cancer	treatment	ISO	RGD:735591	D	RGD:9068941	20220715	RGD			PMID:26603620|REF_RGD_ID:152998997
8705394	Il10	interleukin 10	gene	DOID:5082	liver cirrhosis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1082G>A (rs1800896) (human)	PMID:26909998|REF_RGD_ID:14975152
8705394	Il10	interleukin 10	gene	DOID:5082	liver cirrhosis	no_association	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-592C>A (rs1800872) (human)	PMID:26909998|REF_RGD_ID:14975152
8705394	Il10	interleukin 10	gene	DOID:5082	liver cirrhosis	no_association	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic;DNA:SNP:promoter:-1082 G>A (human)	PMID:27660094|REF_RGD_ID:14975134
8705394	Il10	interleukin 10	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic;DNA:SNP:promoter:-592C>A (human)	PMID:27660094|REF_RGD_ID:14975134
8705394	Il10	interleukin 10	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:735591	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:10202824
8705394	Il10	interleukin 10	gene	DOID:526	human immunodeficiency virus infectious disease	susceptibility	ISO	RGD:735591	D	RGD:7240710	20260708	OMIM			
8705394	Il10	interleukin 10	gene	DOID:526	human immunodeficiency virus infectious disease	treatment	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:10666520|REF_RGD_ID:7365087
8705394	Il10	interleukin 10	gene	DOID:5419	schizophrenia		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:11922883|REF_RGD_ID:1580481
8705394	Il10	interleukin 10	gene	DOID:551	toxic pneumonitis	treatment	ISO	RGD:620876|RGD:620596	D	RGD:9068941	20260718	RGD			PMID:31295064|REF_RGD_ID:736797807
8705394	Il10	interleukin 10	gene	DOID:552	pneumonia	disease_progression	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:20595152|REF_RGD_ID:4140400
8705394	Il10	interleukin 10	gene	DOID:5679	retinal disease		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:21273540|REF_RGD_ID:7364850
8705394	Il10	interleukin 10	gene	DOID:5679	retinal disease	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:23720065|REF_RGD_ID:7364808
8705394	Il10	interleukin 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705394	Il10	interleukin 10	gene	DOID:5844	myocardial infarction		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15883752|PMID:16310260
8705394	Il10	interleukin 10	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:15466015|REF_RGD_ID:1598480
8705394	Il10	interleukin 10	gene	DOID:6000	congestive heart failure		ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:28939262|REF_RGD_ID:14975271
8705394	Il10	interleukin 10	gene	DOID:6000	congestive heart failure	disease_progression	ISO	RGD:2886	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:cardiac ventricle (rat)	PMID:16461369|REF_RGD_ID:1598465
8705394	Il10	interleukin 10	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:23778495|REF_RGD_ID:7365020
8705394	Il10	interleukin 10	gene	DOID:6432	pulmonary hypertension	disease_progression	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20713898|REF_RGD_ID:4142530
8705394	Il10	interleukin 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:26890368|REF_RGD_ID:14975171
8705394	Il10	interleukin 10	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:23822114|REF_RGD_ID:7365006
8705394	Il10	interleukin 10	gene	DOID:686	liver carcinoma		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-592C>A (rs1800872) (human)	PMID:28763918|REF_RGD_ID:14975157
8705394	Il10	interleukin 10	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:735591	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:22450443
8705394	Il10	interleukin 10	gene	DOID:7148	rheumatoid arthritis	susceptibility	ISO	RGD:735591	D	RGD:7240710	20260708	OMIM			
8705394	Il10	interleukin 10	gene	DOID:718	autoimmune hemolytic anemia	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:12093879|REF_RGD_ID:11049457
8705394	Il10	interleukin 10	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:2886	D	RGD:9068941	20201002	RGD		protein:decreased expression:serum (rat)	PMID:15238617|REF_RGD_ID:1302825
8705394	Il10	interleukin 10	gene	DOID:7997	thyrotoxicosis		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19343192|REF_RGD_ID:2311054
8705394	Il10	interleukin 10	gene	DOID:7998	hyperthyroidism		ISO	RGD:10785	D	RGD:9068941	20200609	RGD		associated with Graves Disease	PMID:21474590|REF_RGD_ID:7364857
8705394	Il10	interleukin 10	gene	DOID:7998	hyperthyroidism		ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:24534949|REF_RGD_ID:11049472
8705394	Il10	interleukin 10	gene	DOID:820	myocarditis		ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:17042978|REF_RGD_ID:1598481
8705394	Il10	interleukin 10	gene	DOID:820	myocarditis	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD		associated with Coxsackievirus Infections	PMID:21333491|REF_RGD_ID:7364847
8705394	Il10	interleukin 10	gene	DOID:824	periodontitis		ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:23843954|REF_RGD_ID:7364998
8705394	Il10	interleukin 10	gene	DOID:824	periodontitis	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:27795360|REF_RGD_ID:14975132
8705394	Il10	interleukin 10	gene	DOID:824	periodontitis	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD		associated with type 2 diabetes mellitus	PMID:30405072|REF_RGD_ID:14975259
8705394	Il10	interleukin 10	gene	DOID:8337	appendicitis		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367942
8705394	Il10	interleukin 10	gene	DOID:8437	intestinal obstruction		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:19377777|REF_RGD_ID:2311052
8705394	Il10	interleukin 10	gene	DOID:8483	retinal artery occlusion	susceptibility	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-592C>A (rs1800872) (human)	PMID:17438520|REF_RGD_ID:7365056
8705394	Il10	interleukin 10	gene	DOID:850	lung disease		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		Acute Lung Injury	PMID:19386070|REF_RGD_ID:2311048
8705394	Il10	interleukin 10	gene	DOID:850	lung disease		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		Ventilator-Induced Lung Injury;protein:increased expression:lung	PMID:20663303|REF_RGD_ID:4140396
8705394	Il10	interleukin 10	gene	DOID:850	lung disease		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		associated with Shock, Hemorrhagic	PMID:20622590|REF_RGD_ID:4140398
8705394	Il10	interleukin 10	gene	DOID:850	lung disease		ISO	RGD:735591	D	RGD:9068941	20200806	RGD		associated with HTLV-I Infections;protein:increased expression:bronchoalveolar lavage fluid:	PMID:24292748|REF_RGD_ID:36947872
8705394	Il10	interleukin 10	gene	DOID:8536	herpes zoster		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:decreased expression::	PMID:21954956|REF_RGD_ID:8663478
8705394	Il10	interleukin 10	gene	DOID:8552	chronic myeloid leukemia	treatment	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:20305143|REF_RGD_ID:11049154
8705394	Il10	interleukin 10	gene	DOID:8564	lip cancer		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:26723902|REF_RGD_ID:14975265
8705394	Il10	interleukin 10	gene	DOID:8567	Hodgkin's lymphoma	treatment	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:21466366|REF_RGD_ID:11049168
8705394	Il10	interleukin 10	gene	DOID:8577	ulcerative colitis		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18836448|PMID:20228799
8705394	Il10	interleukin 10	gene	DOID:8577	ulcerative colitis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:26660358|PMID:28120341|REF_RGD_ID:14975153|REF_RGD_ID:14975255
8705394	Il10	interleukin 10	gene	DOID:865	vasculitis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:16504995|REF_RGD_ID:1598487
8705394	Il10	interleukin 10	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:22450025|REF_RGD_ID:11049491
8705394	Il10	interleukin 10	gene	DOID:8677	perinatal necrotizing enterocolitis	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:23783008|REF_RGD_ID:7365018
8705394	Il10	interleukin 10	gene	DOID:8717	decubitus ulcer		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin	PMID:26177082|REF_RGD_ID:11049489
8705394	Il10	interleukin 10	gene	DOID:874	bacterial pneumonia	severity	ISO	RGD:10785	D	RGD:9068941	20200820	RGD			PMID:25398094|REF_RGD_ID:38501102
8705394	Il10	interleukin 10	gene	DOID:8778	Crohn's disease		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:29899181|REF_RGD_ID:14975133
8705394	Il10	interleukin 10	gene	DOID:8778	Crohn's disease		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21102463
8705394	Il10	interleukin 10	gene	DOID:8778	Crohn's disease	treatment	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:11113068|REF_RGD_ID:11049181
8705394	Il10	interleukin 10	gene	DOID:8893	psoriasis	onset	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1082G>A (human)	PMID:11298547|REF_RGD_ID:7829824
8705394	Il10	interleukin 10	gene	DOID:8924	autoimmune thrombocytopenic purpura	disease_progression	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-627C>A (human)	PMID:25051072|REF_RGD_ID:11041894
8705394	Il10	interleukin 10	gene	DOID:8924	autoimmune thrombocytopenic purpura	disease_progression	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A (human)	PMID:22677268|REF_RGD_ID:11046267
8705394	Il10	interleukin 10	gene	DOID:893	Wilson disease		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25002079
8705394	Il10	interleukin 10	gene	DOID:8947	diabetic retinopathy		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:16696964|REF_RGD_ID:1598486
8705394	Il10	interleukin 10	gene	DOID:8947	diabetic retinopathy		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor	PMID:18978347|REF_RGD_ID:2307061
8705394	Il10	interleukin 10	gene	DOID:8947	diabetic retinopathy		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:22105495|REF_RGD_ID:7364856
8705394	Il10	interleukin 10	gene	DOID:8947	diabetic retinopathy	susceptibility	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:18988929|REF_RGD_ID:2307272
8705394	Il10	interleukin 10	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:29691718|REF_RGD_ID:14975124
8705394	Il10	interleukin 10	gene	DOID:9000099	Experimental Colitis		ISO	RGD:10785	D	RGD:9068941	20200609	RGD		associated with Helicobacter Infections	PMID:16982822|REF_RGD_ID:11049170
8705394	Il10	interleukin 10	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:27815529|REF_RGD_ID:14975260
8705394	Il10	interleukin 10	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:2886	D	RGD:9068941	20220623	RGD			PMID:25727887|PMID:29572553|REF_RGD_ID:11049485|REF_RGD_ID:152995414
8705394	Il10	interleukin 10	gene	DOID:9000146	Plaque, Atherosclerotic	ameliorates	ISO	RGD:10785	D	RGD:9068941	20230831	RGD			PMID:28062499|REF_RGD_ID:329955458
8705394	Il10	interleukin 10	gene	DOID:9000173	Eye Burns	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:22553604|REF_RGD_ID:7364851
8705394	Il10	interleukin 10	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19222424
8705394	Il10	interleukin 10	gene	DOID:9000656	Penetrating Wounds		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:26101070|REF_RGD_ID:11049529
8705394	Il10	interleukin 10	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:20406594|REF_RGD_ID:4140467
8705394	Il10	interleukin 10	gene	DOID:9000855	Experimental Radiation Injuries		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:23968122|REF_RGD_ID:11049496
8705394	Il10	interleukin 10	gene	DOID:9000855	Experimental Radiation Injuries	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:23788042|REF_RGD_ID:7365012
8705394	Il10	interleukin 10	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:26270535|REF_RGD_ID:11049527
8705394	Il10	interleukin 10	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:2886	D	RGD:9068941	20230720	RGD		associated with periodontal disease	PMID:33364953|REF_RGD_ID:329956421
8705394	Il10	interleukin 10	gene	DOID:9000945	Ventilator-Induced Lung Injury	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:22106021|PMID:23890086|REF_RGD_ID:11049495|REF_RGD_ID:7364989
8705394	Il10	interleukin 10	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:16035616|REF_RGD_ID:1598627
8705394	Il10	interleukin 10	gene	DOID:9000998	Brain Injuries		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21549006
8705394	Il10	interleukin 10	gene	DOID:9000998	Brain Injuries	severity	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:23075771|REF_RGD_ID:7364822
8705394	Il10	interleukin 10	gene	DOID:9000998	Brain Injuries	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:23971414|REF_RGD_ID:7364983
8705394	Il10	interleukin 10	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:promoter:-592C>A, -819 C>T, -1082G>A (human)	PMID:31055876|REF_RGD_ID:14975127
8705394	Il10	interleukin 10	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:16903779|REF_RGD_ID:7365068
8705394	Il10	interleukin 10	gene	DOID:9001044	Choroidal Neovascularization	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:22802947|REF_RGD_ID:7364853
8705394	Il10	interleukin 10	gene	DOID:9001049	Staphylococcal Pneumonia		ISO	RGD:10785	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:22940620|REF_RGD_ID:7364825
8705394	Il10	interleukin 10	gene	DOID:9001204	Dyspepsia		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-819C>A (rs1800871)(human)	PMID:28965252|REF_RGD_ID:14975154
8705394	Il10	interleukin 10	gene	DOID:9001204	Dyspepsia	no_association	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1082G>A (rs1800896)(human)	PMID:28965252|REF_RGD_ID:14975154
8705394	Il10	interleukin 10	gene	DOID:9001472	Nasal Polyps		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:22462754|REF_RGD_ID:7364835
8705394	Il10	interleukin 10	gene	DOID:9001488	Human Influenza	susceptibility	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:20200252|REF_RGD_ID:4140426
8705394	Il10	interleukin 10	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12632514|PMID:15362042|PMID:16097045|PMID:16126171|PMID:16539848|PMID:16552806|PMID:16609999|PMID:16688825|PMID:18251166
8705394	Il10	interleukin 10	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:23980370|PMID:24993843|REF_RGD_ID:11049490|REF_RGD_ID:7364982
8705394	Il10	interleukin 10	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:14715528|REF_RGD_ID:1598466
8705394	Il10	interleukin 10	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, lymph	PMID:19160132|REF_RGD_ID:2311060
8705394	Il10	interleukin 10	gene	DOID:9001981	Weight Loss		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:24314293|PMID:27580383
8705394	Il10	interleukin 10	gene	DOID:9001995	Actinic Cheilitis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:26723902|REF_RGD_ID:14975265
8705394	Il10	interleukin 10	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:21911118|REF_RGD_ID:7364839
8705394	Il10	interleukin 10	gene	DOID:9002165	Diabetic Nephropathies	susceptibility	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms:promoter:g.-1082G>A, g.-819C>T, g.-592C>A (human)	PMID:19031431|REF_RGD_ID:2308943
8705394	Il10	interleukin 10	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		associated with Sciatic Neuropathy	PMID:23957449|REF_RGD_ID:7364792
8705394	Il10	interleukin 10	gene	DOID:9002211	Hyperalgesia		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:17174526|PMID:7582491
8705394	Il10	interleukin 10	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:22820166|REF_RGD_ID:7364827
8705394	Il10	interleukin 10	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:24077211|REF_RGD_ID:7364865
8705394	Il10	interleukin 10	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human)	PMID:19573080|REF_RGD_ID:11049165
8705394	Il10	interleukin 10	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	disease_progression	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:22945689|REF_RGD_ID:11041895
8705394	Il10	interleukin 10	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	disease_progression	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:10638947|REF_RGD_ID:11049174
8705394	Il10	interleukin 10	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	no_association	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:19573080|REF_RGD_ID:11049165
8705394	Il10	interleukin 10	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16284379|PMID:17999153|PMID:18174250
8705394	Il10	interleukin 10	gene	DOID:9002311	Experimental Autoimmune Myocarditis	treatment	ISO	RGD:2886	D	RGD:9068941	20200910	RGD			PMID:19907173|REF_RGD_ID:13702882
8705394	Il10	interleukin 10	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:19193354|REF_RGD_ID:2311059
8705394	Il10	interleukin 10	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:19169271|REF_RGD_ID:8662976
8705394	Il10	interleukin 10	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:20974942|PMID:22450443
8705394	Il10	interleukin 10	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:15270736|REF_RGD_ID:1626677
8705394	Il10	interleukin 10	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:22052031|PMID:23140046|REF_RGD_ID:7193038|REF_RGD_ID:7364838
8705394	Il10	interleukin 10	gene	DOID:9002720	Splenomegaly		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:19060266|REF_RGD_ID:7365027
8705394	Il10	interleukin 10	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:23872438|REF_RGD_ID:7364993
8705394	Il10	interleukin 10	gene	DOID:9002805	Enterocolitis		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17574631
8705394	Il10	interleukin 10	gene	DOID:9002850	Immediate Hypersensitivity		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20485159
8705394	Il10	interleukin 10	gene	DOID:9002906	Multiple Organ Failure		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10479408
8705394	Il10	interleukin 10	gene	DOID:9003610	Asthenopia		ISO	RGD:10785	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:20415740|REF_RGD_ID:7364861
8705394	Il10	interleukin 10	gene	DOID:9003688	Toxoplasma Chorioretinitis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:&#8722;1082G>A (human)	PMID:18436829|REF_RGD_ID:7365046
8705394	Il10	interleukin 10	gene	DOID:9003871	Venous Thrombosis	susceptibility	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:16807647|REF_RGD_ID:1598472
8705394	Il10	interleukin 10	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:12388354|PMID:19514843|REF_RGD_ID:2308950|REF_RGD_ID:5508171
8705394	Il10	interleukin 10	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18460982
8705394	Il10	interleukin 10	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:16141682|REF_RGD_ID:1598625
8705394	Il10	interleukin 10	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-592C>A (rs1800872) (human)	PMID:29247709|REF_RGD_ID:14975141
8705394	Il10	interleukin 10	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:26095186|REF_RGD_ID:14700655
8705394	Il10	interleukin 10	gene	DOID:9004017	Chronic Hepatitis C	no_association	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter: rs3021094, rs3024498 (human)	PMID:29247709|REF_RGD_ID:14975141
8705394	Il10	interleukin 10	gene	DOID:9004017	Chronic Hepatitis C	susceptibility	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:	PMID:26095186|REF_RGD_ID:14700655
8705394	Il10	interleukin 10	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:735591	D	RGD:9068941	20200813	RGD			PMID:25708446|REF_RGD_ID:38456002
8705394	Il10	interleukin 10	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:22564629|REF_RGD_ID:7364833
8705394	Il10	interleukin 10	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:23870834|REF_RGD_ID:7364994
8705394	Il10	interleukin 10	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:17275523|REF_RGD_ID:11049523
8705394	Il10	interleukin 10	gene	DOID:9004422	Chagas Cardiomyopathy	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:24055715|REF_RGD_ID:7364866
8705394	Il10	interleukin 10	gene	DOID:9004484	Sepsis		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:28108420|REF_RGD_ID:14975261
8705394	Il10	interleukin 10	gene	DOID:9004484	Sepsis		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19371254|REF_RGD_ID:2311053
8705394	Il10	interleukin 10	gene	DOID:9004484	Sepsis		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11441115
8705394	Il10	interleukin 10	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:27488951|REF_RGD_ID:14975262
8705394	Il10	interleukin 10	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:24055021|REF_RGD_ID:7364867
8705394	Il10	interleukin 10	gene	DOID:9004538	Hearing Loss	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD		associated with Autoimmune Diseases	PMID:21697956|REF_RGD_ID:7364842
8705394	Il10	interleukin 10	gene	DOID:9004538	Hearing Loss	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD		associated with Meningitis, Pneumococcal	PMID:22644021|REF_RGD_ID:7364829
8705394	Il10	interleukin 10	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-1082A>G (rs1800896), -819T>C (rs1800871), -592A>C (rs1800872) (human)	PMID:30109600|REF_RGD_ID:14975142
8705394	Il10	interleukin 10	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		associated with Reperfusion Injury;protein:increased expression:lung, plasma	PMID:23801594|REF_RGD_ID:7365008
8705394	Il10	interleukin 10	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1082G>A (rs1800896) (human)	PMID:30412745|REF_RGD_ID:14975158
8705394	Il10	interleukin 10	gene	DOID:9004610	Acute Lung Injury	no_association	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:rs3021097 (human)	PMID:30412745|REF_RGD_ID:14975158
8705394	Il10	interleukin 10	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:23902576|REF_RGD_ID:7364984
8705394	Il10	interleukin 10	gene	DOID:9004649	Heat Stroke		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24039931
8705394	Il10	interleukin 10	gene	DOID:9004932	Eales Disease		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype:promoter	PMID:20720222|REF_RGD_ID:7364860
8705394	Il10	interleukin 10	gene	DOID:9004945	Ocular Toxoplasmosis		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:19026704|REF_RGD_ID:7365028
8705394	Il10	interleukin 10	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14587096
8705394	Il10	interleukin 10	gene	DOID:9005228	Musculoskeletal Pain		ISO	RGD:2886	D	RGD:9068941	20260625	RGD			PMID:28628078|REF_RGD_ID:736686880
8705394	Il10	interleukin 10	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14999141
8705394	Il10	interleukin 10	gene	DOID:9005372	Inflammation		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:20304473|REF_RGD_ID:4140417
8705394	Il10	interleukin 10	gene	DOID:9005372	Inflammation		ISO	RGD:10785	D	RGD:9068941	20200609	RGD		associated with Pneumonia	PMID:20357828|REF_RGD_ID:4140420
8705394	Il10	interleukin 10	gene	DOID:9005372	Inflammation		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:23861957|REF_RGD_ID:7364996
8705394	Il10	interleukin 10	gene	DOID:9005372	Inflammation		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11181422
8705394	Il10	interleukin 10	gene	DOID:9005372	Inflammation		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		associated with inflammatory bowel disease	PMID:26802082|REF_RGD_ID:14975136
8705394	Il10	interleukin 10	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:18779928|REF_RGD_ID:2308946
8705394	Il10	interleukin 10	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		protein:increase expression:serum	PMID:18787467|REF_RGD_ID:2308945
8705394	Il10	interleukin 10	gene	DOID:9005647	Experimental Autoimmune Uveitis		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:18390724|REF_RGD_ID:7365052
8705394	Il10	interleukin 10	gene	DOID:9005647	Experimental Autoimmune Uveitis	disease_progression	ISO	RGD:2886	D	RGD:9068941	20221222	RGD			PMID:31209505|REF_RGD_ID:155791448
8705394	Il10	interleukin 10	gene	DOID:9005647	Experimental Autoimmune Uveitis	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:16043105|PMID:18495789|REF_RGD_ID:7365044|REF_RGD_ID:7365069
8705394	Il10	interleukin 10	gene	DOID:9005700	Airway Obstruction	susceptibility	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNPs (human)	PMID:17690329|REF_RGD_ID:4142510
8705394	Il10	interleukin 10	gene	DOID:9005930	Endotoxemia		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:28664613|REF_RGD_ID:14975137
8705394	Il10	interleukin 10	gene	DOID:9005930	Endotoxemia		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19302852|REF_RGD_ID:2311055
8705394	Il10	interleukin 10	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:27943364|REF_RGD_ID:14975170
8705394	Il10	interleukin 10	gene	DOID:9005936	Gastro-Enteropancreatic Neuroendocrine Tumor		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915428
8705394	Il10	interleukin 10	gene	DOID:9005941	Rhinosinusitis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood, mononuclear cell	PMID:23168151|REF_RGD_ID:7364820
8705394	Il10	interleukin 10	gene	DOID:9005968	Neuralgia		ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:16949747|REF_RGD_ID:1598632
8705394	Il10	interleukin 10	gene	DOID:9005968	Neuralgia	treatment	ISO	RGD:2886	D	RGD:9068941	20260702	RGD			PMID:25078297|PMID:29084866|REF_RGD_ID:11049468|REF_RGD_ID:736705808
8705394	Il10	interleukin 10	gene	DOID:9005968	Neuralgia	treatment	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:24077211|REF_RGD_ID:7364865
8705394	Il10	interleukin 10	gene	DOID:9006205	Animal Disease Models		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27580383|PMID:28411859
8705394	Il10	interleukin 10	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:28664613|REF_RGD_ID:14975137
8705394	Il10	interleukin 10	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:24079335|REF_RGD_ID:7364864
8705394	Il10	interleukin 10	gene	DOID:9006549	Enterovirus Infections	severity	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-592A>C (rs1800872) (human)	PMID:28843383|REF_RGD_ID:14975146
8705394	Il10	interleukin 10	gene	DOID:9006623	Murine Acquired Immunodeficiency Syndrome		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:23415673|REF_RGD_ID:7364815
8705394	Il10	interleukin 10	gene	DOID:9006642	Experimental Autoimmune Uveoretinitis		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:11359436|PMID:15240742|REF_RGD_ID:7365075|REF_RGD_ID:7365084
8705394	Il10	interleukin 10	gene	DOID:9006642	Experimental Autoimmune Uveoretinitis	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:22629453|REF_RGD_ID:7364830
8705394	Il10	interleukin 10	gene	DOID:9006642	Experimental Autoimmune Uveoretinitis	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:21296818|REF_RGD_ID:7364849
8705394	Il10	interleukin 10	gene	DOID:9006644	Retroviridae Infections		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:11369878|REF_RGD_ID:11049463
8705394	Il10	interleukin 10	gene	DOID:9006709	Primary Graft Dysfunction	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:21911153|REF_RGD_ID:11049478
8705394	Il10	interleukin 10	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:735591	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:31557154
8705394	Il10	interleukin 10	gene	DOID:9006945	Diabetic Cardiomyopathies	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:23843977|REF_RGD_ID:7247697
8705394	Il10	interleukin 10	gene	DOID:9006966	Pseudomonas Aeruginosa Keratitis	treatment	ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:23878501|REF_RGD_ID:7364804
8705394	Il10	interleukin 10	gene	DOID:9007204	Dysbiosis	treatment	ISO	RGD:2886	D	RGD:9068941	20200903	RGD			PMID:32227764|REF_RGD_ID:38549571
8705394	Il10	interleukin 10	gene	DOID:9007329	Human Viral Hepatitis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-1082A>G (rs1800896), -819T>C (rs1800871), -592A>C (rs1800872) (human)	PMID:30109600|REF_RGD_ID:14975142
8705394	Il10	interleukin 10	gene	DOID:9007558	Acute Experimental Pancreatitis		ISO	RGD:2886	D	RGD:9068941	20250123	RGD		protein:increased expression:serum	PMID:19399939|REF_RGD_ID:2306925
8705394	Il10	interleukin 10	gene	DOID:9007558	Acute Experimental Pancreatitis	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:25323753|REF_RGD_ID:11049477
8705394	Il10	interleukin 10	gene	DOID:9007651	Chronic Bronchitis		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung	PMID:19507274|REF_RGD_ID:2308951
8705394	Il10	interleukin 10	gene	DOID:9007730	Burns		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18277951
8705394	Il10	interleukin 10	gene	DOID:9007730	Burns	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:22341647|REF_RGD_ID:11049470
8705394	Il10	interleukin 10	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19275881|REF_RGD_ID:2311056
8705394	Il10	interleukin 10	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:23840272|REF_RGD_ID:7365001
8705394	Il10	interleukin 10	gene	DOID:9007871	Malignant Pleural Effusions		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:30695099|REF_RGD_ID:14975123
8705394	Il10	interleukin 10	gene	DOID:9008103	Seasonal Allergic Rhinitis	treatment	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:19505388|REF_RGD_ID:7365025
8705394	Il10	interleukin 10	gene	DOID:9008208	Heparin-induced Thrombocytopenia		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:repeats, haplotype:promoter	PMID:22239992|REF_RGD_ID:11049164
8705394	Il10	interleukin 10	gene	DOID:9008208	Heparin-induced Thrombocytopenia	no_association	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human)	PMID:22239992|REF_RGD_ID:11049164
8705394	Il10	interleukin 10	gene	DOID:9008227	Pregnancy-associated Malaria		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:24717969|REF_RGD_ID:11041890
8705394	Il10	interleukin 10	gene	DOID:9008261	Chemically-Induced Disorders		ISO	RGD:735591	D	RGD:9068941	20230907	CTD		CTD Direct Evidence: marker/mechanism	PMID:36108500
8705394	Il10	interleukin 10	gene	DOID:9008763	Femoral Fractures		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21442011|REF_RGD_ID:5131471
8705394	Il10	interleukin 10	gene	DOID:9008865	Entamoebiasis		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16374615
8705394	Il10	interleukin 10	gene	DOID:9008885	Staphylococcal Infections	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:23993644|REF_RGD_ID:7364979
8705394	Il10	interleukin 10	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29582634
8705394	Il10	interleukin 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8705394	Il10	interleukin 10	gene	DOID:9065	leishmaniasis		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16540374|PMID:20404924
8705394	Il10	interleukin 10	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19838195|PMID:20728533
8705394	Il10	interleukin 10	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:12486603|REF_RGD_ID:1580478
8705394	Il10	interleukin 10	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20102417
8705394	Il10	interleukin 10	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:735591	D	RGD:9068941	20200806	RGD		mRNA:increased expression:Peripheral blood mononuclear cell:	PMID:29205403|REF_RGD_ID:38455981
8705394	Il10	interleukin 10	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:23357299|REF_RGD_ID:11046264
8705394	Il10	interleukin 10	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15716043|PMID:17404324|PMID:22461696
8705394	Il10	interleukin 10	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:29745990|REF_RGD_ID:14975172
8705394	Il10	interleukin 10	gene	DOID:916	liver benign neoplasm	treatment	ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:25168696|REF_RGD_ID:11049493
8705394	Il10	interleukin 10	gene	DOID:9351	diabetes mellitus		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:22802947|REF_RGD_ID:7364853
8705394	Il10	interleukin 10	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:28843383|REF_RGD_ID:14975146
8705394	Il10	interleukin 10	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:promoter:g.-1082G>A, g.-819C>T, g.-592C>A (human)	PMID:19031431|REF_RGD_ID:2308943
8705394	Il10	interleukin 10	gene	DOID:9408	acute myocardial infarction	ameliorates	ISO	RGD:2886	D	RGD:9068941	20230420	RGD			PMID:32068187|REF_RGD_ID:267358468
8705394	Il10	interleukin 10	gene	DOID:9452	steatotic liver disease		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus	PMID:18267346|REF_RGD_ID:2308948
8705394	Il10	interleukin 10	gene	DOID:9478	postpartum depression		ISO	RGD:2886	D	RGD:9068941	20200609	RGD			PMID:17033197|REF_RGD_ID:1598630
8705394	Il10	interleukin 10	gene	DOID:9498	pulmonary eosinophilia		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:20796249|REF_RGD_ID:4140455
8705394	Il10	interleukin 10	gene	DOID:9538	multiple myeloma		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP, polymorphisms:promoter:-1082G>A, (human)	PMID:11307152|REF_RGD_ID:11041888
8705394	Il10	interleukin 10	gene	DOID:9538	multiple myeloma	disease_progression	ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:11022130|REF_RGD_ID:11049458
8705394	Il10	interleukin 10	gene	DOID:9663	aphthous stomatitis		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1082G>A (rs1800896) (human)	PMID:27266194|REF_RGD_ID:14975145
8705394	Il10	interleukin 10	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19430480
8705394	Il10	interleukin 10	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:17997340|REF_RGD_ID:2308949
8705394	Il10	interleukin 10	gene	DOID:9778	irritable bowel syndrome		ISO	RGD:735591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12404228
8705394	Il10	interleukin 10	gene	DOID:9784	trichinosis		ISO	RGD:10785	D	RGD:9068941	20200609	RGD			PMID:23465441|REF_RGD_ID:11049476
8705394	Il10	interleukin 10	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:735591	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood	PMID:21653647|REF_RGD_ID:11049158
8705394	Il10	interleukin 10	gene	DOID:9952	acute lymphoblastic leukemia	treatment	ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:15860861|REF_RGD_ID:11049169
8705394	Il10	interleukin 10	gene	DOID:9970	obesity		ISO	RGD:2886	D	RGD:9068941	20200609	RGD		protein:increase expression:serum	PMID:18787467|REF_RGD_ID:2308945
8705394	Il10	interleukin 10	gene	DOID:9970	obesity		ISO	RGD:735591	D	RGD:9068941	20200609	RGD			PMID:28843383|REF_RGD_ID:14975146
8705403	Rpap2	RNA polymerase II associated protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1602679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8705403	Rpap2	RNA polymerase II associated protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602679	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8705403	Rpap2	RNA polymerase II associated protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705437	Cdca2	cell division cycle associated 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8705437	Cdca2	cell division cycle associated 2	gene	DOID:0080600	COVID-19		ISO	RGD:1322226	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8705437	Cdca2	cell division cycle associated 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8705437	Cdca2	cell division cycle associated 2	gene	DOID:1115	sarcoma		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8705437	Cdca2	cell division cycle associated 2	gene	DOID:1324	lung cancer		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8705437	Cdca2	cell division cycle associated 2	gene	DOID:1909	melanoma		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8705437	Cdca2	cell division cycle associated 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8705437	Cdca2	cell division cycle associated 2	gene	DOID:2661	myoepithelioma		ISO	RGD:1322226	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8705437	Cdca2	cell division cycle associated 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8705437	Cdca2	cell division cycle associated 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8705437	Cdca2	cell division cycle associated 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705437	Cdca2	cell division cycle associated 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8705437	Cdca2	cell division cycle associated 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8705437	Cdca2	cell division cycle associated 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8705437	Cdca2	cell division cycle associated 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8705467	Alkbh3	alkB homolog 3, alpha-ketoglutarate dependent dioxygenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8705467	Alkbh3	alkB homolog 3, alpha-ketoglutarate dependent dioxygenase	gene	DOID:10534	stomach cancer		ISO	RGD:1606677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8705467	Alkbh3	alkB homolog 3, alpha-ketoglutarate dependent dioxygenase	gene	DOID:1909	melanoma		ISO	RGD:1606677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8705467	Alkbh3	alkB homolog 3, alpha-ketoglutarate dependent dioxygenase	gene	DOID:4362	cervical cancer		ISO	RGD:1606677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8705467	Alkbh3	alkB homolog 3, alpha-ketoglutarate dependent dioxygenase	gene	DOID:6039	uveal melanoma		ISO	RGD:1606677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8705467	Alkbh3	alkB homolog 3, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8705467	Alkbh3	alkB homolog 3, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8705499	Znf180	zinc finger protein 180	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705499	Znf180	zinc finger protein 180	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8705499	Znf180	zinc finger protein 180	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348239	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8705508	Pcdh10	protocadherin 10	gene	DOID:10534	stomach cancer		ISO	RGD:1348202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8705508	Pcdh10	protocadherin 10	gene	DOID:12849	autistic disorder		ISO	RGD:1348202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18621663
8705508	Pcdh10	protocadherin 10	gene	DOID:1324	lung cancer		ISO	RGD:1348202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8705508	Pcdh10	protocadherin 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8705508	Pcdh10	protocadherin 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8705508	Pcdh10	protocadherin 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8705529	Tmem139	transmembrane protein 139	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705529	Tmem139	transmembrane protein 139	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1602298	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26213588
8705540	Nme8	NME/NM23 family member 8	gene	DOID:0110606	primary ciliary dyskinesia 6		ISO	RGD:1344206	D	RGD:7240710	20180130	OMIM			
8705540	Nme8	NME/NM23 family member 8	gene	DOID:0110606	primary ciliary dyskinesia 6		ISO	RGD:1344206	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 6 | ClinVar Annotator: match by term: NME8-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 6	PMID:16199547|PMID:17360648|PMID:17576681|PMID:20301301|PMID:22499950|PMID:24033266|PMID:25741868|PMID:28106320|PMID:28492532|PMID:9536098
8705540	Nme8	NME/NM23 family member 8	gene	DOID:10534	stomach cancer		ISO	RGD:1344206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8705540	Nme8	NME/NM23 family member 8	gene	DOID:1115	sarcoma		ISO	RGD:1344206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8705540	Nme8	NME/NM23 family member 8	gene	DOID:1909	melanoma		ISO	RGD:1344206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8705540	Nme8	NME/NM23 family member 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1344206	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8705540	Nme8	NME/NM23 family member 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:24033266|PMID:25741868|PMID:28492532
8705540	Nme8	NME/NM23 family member 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8705540	Nme8	NME/NM23 family member 8	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1344206	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:35804324
8705561	Jph3	junctophilin 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8705561	Jph3	junctophilin 3	gene	DOID:0090104	Huntington's disease-like 2		ISO	RGD:1318170	D	RGD:7240710	20180130	OMIM			
8705561	Jph3	junctophilin 3	gene	DOID:0090104	Huntington's disease-like 2		ISO	RGD:1318170	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Huntington disease-like 2 | ClinVar Annotator: match by term: JPH3-related condition	PMID:25741868|PMID:28492532
8705561	Jph3	junctophilin 3	gene	DOID:1115	sarcoma		ISO	RGD:1318170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8705561	Jph3	junctophilin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705561	Jph3	junctophilin 3	gene	DOID:630	genetic disease		ISO	RGD:1318170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8705561	Jph3	junctophilin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8705561	Jph3	junctophilin 3	gene	DOID:9007980	Sleep Deprivation		ISO	RGD:1318171	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:18077435|REF_RGD_ID:6480426
8705561	Jph3	junctophilin 3	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1318170	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17892325
8705561	Jph3	junctophilin 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8705570	Armcx4	armadillo repeat containing X-linked 4	gene	DOID:1115	sarcoma		ISO	RGD:1347581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8705570	Armcx4	armadillo repeat containing X-linked 4	gene	DOID:1324	lung cancer		ISO	RGD:1347581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8705570	Armcx4	armadillo repeat containing X-linked 4	gene	DOID:3275	thymoma		ISO	RGD:1347581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8705570	Armcx4	armadillo repeat containing X-linked 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705570	Armcx4	armadillo repeat containing X-linked 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8705570	Armcx4	armadillo repeat containing X-linked 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1347581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8705570	Armcx4	armadillo repeat containing X-linked 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8705570	Armcx4	armadillo repeat containing X-linked 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8705583	Caskin2	CASK interacting protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8705583	Caskin2	CASK interacting protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1320238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8705583	Caskin2	CASK interacting protein 2	gene	DOID:1909	melanoma		ISO	RGD:1320238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8705583	Caskin2	CASK interacting protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8705583	Caskin2	CASK interacting protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320238	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8705583	Caskin2	CASK interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705583	Caskin2	CASK interacting protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8705583	Caskin2	CASK interacting protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8705583	Caskin2	CASK interacting protein 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1320238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8705616	Redic1	regulator of DNA class I crossover intermediates 1	gene	DOID:0111910	spermatogenic failure		ISO	RGD:1606924	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Spermatogenic Failure	
8705649	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8705649	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:0060058	lymphoma		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8705649	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:0060341	agnathia-otocephaly complex		ISO	RGD:1621362	D	RGD:9068941	20220825	MouseDO		OMIM:202650	
8705649	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:10534	stomach cancer		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8705649	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8705649	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:12583	velocardiofacial syndrome		ISO	RGD:1621362	D	RGD:9068941	20220825	MouseDO		OMIM:192430	
8705649	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:1909	melanoma		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8705649	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:37	skin disease		ISO	RGD:1322626	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8705649	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:4362	cervical cancer		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8705649	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1322626	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8705649	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8705649	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705649	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:6039	uveal melanoma		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8705649	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8705649	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8705649	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1322626	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8705649	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8705649	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:9008994	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY		ISO	RGD:1322626	D	RGD:7240710	20230719	OMIM			
8705649	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:9008994	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY		ISO	RGD:1322626	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, short stature, and speech delay	PMID:25741868
8705676	Slc71a1	solute carrier family 71 member 1	gene	DOID:1115	sarcoma		ISO	RGD:1313218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8705676	Slc71a1	solute carrier family 71 member 1	gene	DOID:1324	lung cancer		ISO	RGD:1313218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8705676	Slc71a1	solute carrier family 71 member 1	gene	DOID:1909	melanoma		ISO	RGD:1313218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8705676	Slc71a1	solute carrier family 71 member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8705676	Slc71a1	solute carrier family 71 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705676	Slc71a1	solute carrier family 71 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8705676	Slc71a1	solute carrier family 71 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8705676	Slc71a1	solute carrier family 71 member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8705676	Slc71a1	solute carrier family 71 member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1313218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8705713	Chka	choline kinase alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8705713	Chka	choline kinase alpha	gene	DOID:0050912	colon adenoma		ISO	RGD:1604072	D	RGD:9068941	20200609	RGD		protein:increased expression:colonic mucosa (human)	PMID:10363580|REF_RGD_ID:10401945
8705713	Chka	choline kinase alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8705713	Chka	choline kinase alpha	gene	DOID:0080016	spina bifida		ISO	RGD:1604072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17184542
8705713	Chka	choline kinase alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8705713	Chka	choline kinase alpha	gene	DOID:1909	melanoma		ISO	RGD:1604072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8705713	Chka	choline kinase alpha	gene	DOID:219	colon cancer		ISO	RGD:61944	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:colon (rat)	PMID:10622531|REF_RGD_ID:10401869
8705713	Chka	choline kinase alpha	gene	DOID:224	transient cerebral ischemia		ISO	RGD:61944	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebral cortex (rat)	PMID:16300643|REF_RGD_ID:10401831
8705713	Chka	choline kinase alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8705713	Chka	choline kinase alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705713	Chka	choline kinase alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8705713	Chka	choline kinase alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8705713	Chka	choline kinase alpha	gene	DOID:9008781	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES		ISO	RGD:1604072	D	RGD:7240710	20250529	OMIM			
8705713	Chka	choline kinase alpha	gene	DOID:9008781	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES		ISO	RGD:1604072	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures	PMID:25741868
8705713	Chka	choline kinase alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8705741	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8705741	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:0060058	lymphoma		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8705741	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1353529	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8705741	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8705741	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:1324	lung cancer		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8705741	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8705741	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1353529	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8705741	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705741	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8705741	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1353529	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8705741	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:9006549	Enterovirus Infections		ISO	RGD:1353529	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28446605
8705741	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8705741	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8705787	CUNH16orf96	chromosome unknown C16orf96 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:5487050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8705787	CUNH16orf96	chromosome unknown C16orf96 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:5487050	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8705787	CUNH16orf96	chromosome unknown C16orf96 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:5487050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705787	CUNH16orf96	chromosome unknown C16orf96 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:5487050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8705816	Kcnh5	potassium voltage-gated channel subfamily H member 5	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:731415	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:17576681|PMID:23647072|PMID:24133262|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098
8705816	Kcnh5	potassium voltage-gated channel subfamily H member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8705816	Kcnh5	potassium voltage-gated channel subfamily H member 5	gene	DOID:0051084	developmental and epileptic encephalopathy 112		ISO	RGD:731415	D	RGD:7240710	20231018	OMIM			
8705816	Kcnh5	potassium voltage-gated channel subfamily H member 5	gene	DOID:0051084	developmental and epileptic encephalopathy 112		ISO	RGD:731415	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 112 | ClinVar Annotator: match by term: KCNH5-related disorder	PMID:23647072|PMID:24133262|PMID:25741868|PMID:26467025|PMID:28492532|PMID:36307226|PMID:38008000
8705816	Kcnh5	potassium voltage-gated channel subfamily H member 5	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:731415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:28492532
8705816	Kcnh5	potassium voltage-gated channel subfamily H member 5	gene	DOID:10534	stomach cancer		ISO	RGD:731415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8705816	Kcnh5	potassium voltage-gated channel subfamily H member 5	gene	DOID:1324	lung cancer		ISO	RGD:731415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8705816	Kcnh5	potassium voltage-gated channel subfamily H member 5	gene	DOID:1826	epilepsy		ISO	RGD:731415	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:28492532
8705816	Kcnh5	potassium voltage-gated channel subfamily H member 5	gene	DOID:630	genetic disease		ISO	RGD:731415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:36307226
8705816	Kcnh5	potassium voltage-gated channel subfamily H member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8705816	Kcnh5	potassium voltage-gated channel subfamily H member 5	gene	DOID:9007390	Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression		ISO	RGD:731415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	PMID:25741868
8705816	Kcnh5	potassium voltage-gated channel subfamily H member 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8705831	Ccnf	cyclin F	gene	DOID:10534	stomach cancer		ISO	RGD:736837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8705831	Ccnf	cyclin F	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8705831	Ccnf	cyclin F	gene	DOID:1115	sarcoma		ISO	RGD:736837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8705831	Ccnf	cyclin F	gene	DOID:1324	lung cancer		ISO	RGD:736837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8705831	Ccnf	cyclin F	gene	DOID:1389	polyneuropathy		ISO	RGD:736837	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868
8705831	Ccnf	cyclin F	gene	DOID:1826	epilepsy		ISO	RGD:736837	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611
8705831	Ccnf	cyclin F	gene	DOID:1909	melanoma		ISO	RGD:736837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8705831	Ccnf	cyclin F	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8705831	Ccnf	cyclin F	gene	DOID:3275	thymoma		ISO	RGD:736837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8705831	Ccnf	cyclin F	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:736837	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868
8705831	Ccnf	cyclin F	gene	DOID:4362	cervical cancer		ISO	RGD:736837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8705831	Ccnf	cyclin F	gene	DOID:5041	esophageal cancer		ISO	RGD:736837	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8705831	Ccnf	cyclin F	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8705831	Ccnf	cyclin F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705831	Ccnf	cyclin F	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8705831	Ccnf	cyclin F	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8705831	Ccnf	cyclin F	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:736837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8705831	Ccnf	cyclin F	gene	DOID:9005996	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5		ISO	RGD:736837	D	RGD:7240710	20210113	OMIM			
8705831	Ccnf	cyclin F	gene	DOID:9005996	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5		ISO	RGD:736837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5	PMID:25741868|PMID:27080313|PMID:28281833|PMID:31577344
8705831	Ccnf	cyclin F	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8705831	Ccnf	cyclin F	gene	DOID:9255	frontotemporal dementia		ISO	RGD:736837	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	
8705851	Igsf9	immunoglobulin superfamily member 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8705851	Igsf9	immunoglobulin superfamily member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8705851	Igsf9	immunoglobulin superfamily member 9	gene	DOID:10534	stomach cancer		ISO	RGD:1312078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8705851	Igsf9	immunoglobulin superfamily member 9	gene	DOID:1115	sarcoma		ISO	RGD:1312078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8705851	Igsf9	immunoglobulin superfamily member 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1312078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8705851	Igsf9	immunoglobulin superfamily member 9	gene	DOID:3275	thymoma		ISO	RGD:1312078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8705851	Igsf9	immunoglobulin superfamily member 9	gene	DOID:4362	cervical cancer		ISO	RGD:1312078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8705851	Igsf9	immunoglobulin superfamily member 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1312078	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8705851	Igsf9	immunoglobulin superfamily member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705851	Igsf9	immunoglobulin superfamily member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8705851	Igsf9	immunoglobulin superfamily member 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8705851	Igsf9	immunoglobulin superfamily member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8705892	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8705892	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8705892	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1322871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
8705892	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8705892	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8705892	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8705892	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8705892	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8705892	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8705892	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8705892	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8705892	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:4928	intrahepatic cholangiocarcinoma	disease_progression	ISO	RGD:1322871	D	RGD:9068941	20220708	RGD		protein:increased expression:intrahepatic bile duct (human)	PMID:30377796|REF_RGD_ID:152998946
8705892	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8705892	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8705892	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705892	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8705892	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8705892	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8705892	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8705951	Nup42	nucleoporin 42	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344412	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8705951	Nup42	nucleoporin 42	gene	DOID:10534	stomach cancer		ISO	RGD:1344412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8705951	Nup42	nucleoporin 42	gene	DOID:1324	lung cancer		ISO	RGD:1344412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8705951	Nup42	nucleoporin 42	gene	DOID:4362	cervical cancer		ISO	RGD:1344412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8705951	Nup42	nucleoporin 42	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8705951	Nup42	nucleoporin 42	gene	DOID:5041	esophageal cancer		ISO	RGD:1344412	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8705951	Nup42	nucleoporin 42	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705951	Nup42	nucleoporin 42	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8705951	Nup42	nucleoporin 42	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1344412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8705951	Nup42	nucleoporin 42	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8705951	Nup42	nucleoporin 42	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344412	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8705962	Sec11c	SEC11 homolog C, signal peptidase complex subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8705962	Sec11c	SEC11 homolog C, signal peptidase complex subunit	gene	DOID:1324	lung cancer		ISO	RGD:1348413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8705962	Sec11c	SEC11 homolog C, signal peptidase complex subunit	gene	DOID:3275	thymoma		ISO	RGD:1348413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8705962	Sec11c	SEC11 homolog C, signal peptidase complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8705978	Pkia	cAMP-dependent protein kinase inhibitor alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8705978	Pkia	cAMP-dependent protein kinase inhibitor alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8705978	Pkia	cAMP-dependent protein kinase inhibitor alpha	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8705999	Znf74	zinc finger protein 74	gene	DOID:1115	sarcoma		ISO	RGD:1353341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8705999	Znf74	zinc finger protein 74	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8705999	Znf74	zinc finger protein 74	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8705999	Znf74	zinc finger protein 74	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706008	Gsap	gamma-secretase activating protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8706008	Gsap	gamma-secretase activating protein	gene	DOID:0060058	lymphoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8706008	Gsap	gamma-secretase activating protein	gene	DOID:10534	stomach cancer		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8706008	Gsap	gamma-secretase activating protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8706008	Gsap	gamma-secretase activating protein	gene	DOID:1324	lung cancer		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8706008	Gsap	gamma-secretase activating protein	gene	DOID:1909	melanoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8706008	Gsap	gamma-secretase activating protein	gene	DOID:4362	cervical cancer		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8706008	Gsap	gamma-secretase activating protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8706008	Gsap	gamma-secretase activating protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8706008	Gsap	gamma-secretase activating protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8706008	Gsap	gamma-secretase activating protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706008	Gsap	gamma-secretase activating protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8706008	Gsap	gamma-secretase activating protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8706008	Gsap	gamma-secretase activating protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8706008	Gsap	gamma-secretase activating protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8706008	Gsap	gamma-secretase activating protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8706043	Ndufa3	NADH:ubiquinone oxidoreductase subunit A3	gene	DOID:3275	thymoma		ISO	RGD:1323447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8706043	Ndufa3	NADH:ubiquinone oxidoreductase subunit A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706064	Nalf2	NALCN channel auxiliary factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8706064	Nalf2	NALCN channel auxiliary factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8706071	Cdca5	cell division cycle associated 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8706071	Cdca5	cell division cycle associated 5	gene	DOID:0080600	COVID-19		ISO	RGD:1350338	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8706071	Cdca5	cell division cycle associated 5	gene	DOID:10534	stomach cancer		ISO	RGD:1350338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8706071	Cdca5	cell division cycle associated 5	gene	DOID:1909	melanoma		ISO	RGD:1350338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8706071	Cdca5	cell division cycle associated 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8706071	Cdca5	cell division cycle associated 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8706071	Cdca5	cell division cycle associated 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350338	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8706098	Ccdc18	coiled-coil domain containing 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8706098	Ccdc18	coiled-coil domain containing 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8706098	Ccdc18	coiled-coil domain containing 18	gene	DOID:10534	stomach cancer		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8706098	Ccdc18	coiled-coil domain containing 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8706098	Ccdc18	coiled-coil domain containing 18	gene	DOID:1115	sarcoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8706098	Ccdc18	coiled-coil domain containing 18	gene	DOID:1324	lung cancer		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8706098	Ccdc18	coiled-coil domain containing 18	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8706098	Ccdc18	coiled-coil domain containing 18	gene	DOID:2394	ovarian cancer		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8706098	Ccdc18	coiled-coil domain containing 18	gene	DOID:3070	high grade glioma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8706098	Ccdc18	coiled-coil domain containing 18	gene	DOID:3275	thymoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8706098	Ccdc18	coiled-coil domain containing 18	gene	DOID:4362	cervical cancer		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8706098	Ccdc18	coiled-coil domain containing 18	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8706098	Ccdc18	coiled-coil domain containing 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1601798	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8706098	Ccdc18	coiled-coil domain containing 18	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8706098	Ccdc18	coiled-coil domain containing 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706098	Ccdc18	coiled-coil domain containing 18	gene	DOID:6039	uveal melanoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8706098	Ccdc18	coiled-coil domain containing 18	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8706098	Ccdc18	coiled-coil domain containing 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8706098	Ccdc18	coiled-coil domain containing 18	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8706098	Ccdc18	coiled-coil domain containing 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8706098	Ccdc18	coiled-coil domain containing 18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8706098	Ccdc18	coiled-coil domain containing 18	gene	DOID:9256	colorectal cancer		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:0060058	lymphoma		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1312110	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis	PMID:15756637|PMID:17508018|PMID:19262603|PMID:20849526|PMID:25741868|PMID:28492532
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis	PMID:16007253|PMID:19262603|PMID:20672373|PMID:20849526|PMID:22992804|PMID:25741868|PMID:26740202|PMID:28492532|PMID:36262015|PMID:36980989
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:0060656	autosomal recessive congenital ichthyosis 1		ISO	RGD:1312110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16675967
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:0060656	autosomal recessive congenital ichthyosis 1	susceptibility	ISO	RGD:1312110	D	RGD:9068941	20200609	RGD			PMID:12915478|REF_RGD_ID:1598548
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:0060712	autosomal recessive congenital ichthyosis 4A		ISO	RGD:1312110	D	RGD:7240710	20180130	OMIM			
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:0060712	autosomal recessive congenital ichthyosis 4A		ISO	RGD:1312110	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ABCA12-related condition | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A | ClinVar Annotator: match by term: ICHTHYOSIS CONGENITA IIB | ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A | ClinVar Annotator: match by term: Ichthyosis congenita IIB	PMID:12915478|PMID:16007253|PMID:16199547|PMID:16902423|PMID:19664001|PMID:20672373|PMID:21729033|PMID:22257947|PMID:22992804|PMID:23528209|PMID:25741868|PMID:27025581|PMID:28295493|PMID:28492532|PMID:29722424|PMID:29880184|PMID:29887490|PMID:30600594|PMID:30916489|PMID:31168818|PMID:32707200|PMID:32851342|PMID:34908195|PMID:36980989
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:0060713	autosomal recessive congenital ichthyosis 4B		ISO	RGD:1312110	D	RGD:7240710	20180130	OMIM			
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:0060713	autosomal recessive congenital ichthyosis 4B		ISO	RGD:1312110	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B | ClinVar Annotator: match by term: Harlequin fetus | ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B | ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 4B (harlequin) | ClinVar Annotator: match by term: autosomal recessive congenital ichthyosis 4B	PMID:16007253|PMID:16902423|PMID:19664001|PMID:20672373|PMID:22257947|PMID:25741868|PMID:28492532|PMID:29880184|PMID:31168818|PMID:36980989
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:10534	stomach cancer		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:1570	ectropion		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectropion	PMID:19664001|PMID:20672373|PMID:25741868|PMID:28492532|PMID:29880184
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:1697	ichthyosis		ISO	RGD:1312110	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Ichthyosis | ClinVar Annotator: match by term: ichthyosis	PMID:25741868
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:1909	melanoma		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:3275	thymoma		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:4362	cervical cancer		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:630	genetic disease		ISO	RGD:1312110	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:9002395	Hypothermia		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothermia	PMID:19664001|PMID:20672373|PMID:25741868|PMID:28492532|PMID:29880184
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:9002801	Recurrence		ISO	RGD:1312110	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35837087
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1312110	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35837087
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1312110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
8706130	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:0050861	colorectal adenocarcinoma		ISO	RGD:1605411	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:22713656|REF_RGD_ID:9588601
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1605411	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:28492532
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:0060936	dystonia 28, childhood-onset		ISO	RGD:1605411	D	RGD:7240710	20190315	OMIM			
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:0060936	dystonia 28, childhood-onset		ISO	RGD:1605411	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DYSTONIA 28, CHILDHOOD-ONSET | ClinVar Annotator: match by term: Dystonia 28, childhood-onset | ClinVar Annotator: match by term: KMT2B-related condition | ClinVar Annotator: match by term: KMT2B-related disorder	PMID:25741868|PMID:25741878|PMID:27839873|PMID:27992417|PMID:28492532|PMID:28520167|PMID:29653907|PMID:31216378|PMID:32581362|PMID:33098801|PMID:33150406|PMID:33619735|PMID:34747823
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:0061041	autosomal dominant intellectual developmental disorder 68		ISO	RGD:1605411	D	RGD:7240710	20220720	OMIM			
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:0061041	autosomal dominant intellectual developmental disorder 68		ISO	RGD:1605411	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 68 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 68	PMID:25741868|PMID:27839873|PMID:27992417|PMID:28492532|PMID:33150406
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:0080833	laryngomalacia		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:0111152	multicentric Castleman disease		ISO	RGD:1605411	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: TAFRO syndrome	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:10283	prostate cancer		ISO	RGD:1605411	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:prostate gland (human)	PMID:24200674|REF_RGD_ID:9587761
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:10534	stomach cancer		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:1059	intellectual disability		ISO	RGD:1605411	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:10907	microcephaly		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:10908	hydrocephalus		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:10965	spastic diplegia		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:25741868
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:1115	sarcoma		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:11830	myopia		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:11836	clubfoot		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:12849	autistic disorder		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: autistic behavior	PMID:25741868|PMID:28492532
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:1324	lung cancer		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:13580	cholestasis		ISO	RGD:1623920	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (mouse)	PMID:21330447|REF_RGD_ID:9588602
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:1459	hypothyroidism		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:1612	breast cancer	severity	ISO	RGD:1605411	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast (human)	PMID:24491801|REF_RGD_ID:9588564
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:1826	epilepsy		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:1909	melanoma		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1605411	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:543	dystonia		ISO	RGD:1605411	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dystonic disorder | ClinVar Annotator: match by term: dystonia	PMID:25741868|PMID:32581362
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:630	genetic disease		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25405613|PMID:25741868|PMID:27839873|PMID:27992417|PMID:28492532
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:8927	learning disability		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:32581362
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:9000831	Hypokinesia		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradykinesia	PMID:25741868
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1605411	D	RGD:9068941	20211119	RGD		associated with lung adenocarcinoma	PMID:33291558|REF_RGD_ID:150429741
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:9001255	Kabuki Syndrome 1		ISO	RGD:1605411	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Kabuki syndrome 1	PMID:25741868|PMID:28492532|PMID:29255178
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:9001722	Dysarthria		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:32581362
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:9002207	Renal Aminoacidurias		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aminoaciduria	PMID:25741868|PMID:33150406
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:9002589	Bone Fractures		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:9003133	Hypertelorism		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:9003279	Joint Dislocations		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint dislocation	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605411	D	RGD:8554872	20241231	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder with motor features	PMID:25741868|PMID:33150406
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:25741868|PMID:28492532
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: muscular hypotonia	PMID:25741868|PMID:27992417
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:9007722	Myoclonus		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:32581362
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27839873|PMID:27992417|PMID:28492532|PMID:33150406
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:9009311	Idiopathic Generalized Epilepsy 5		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 5	PMID:25741868
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:1623920	D	RGD:9068941	20200609	RGD			PMID:25079327|REF_RGD_ID:9588599
8706190	Kmt2b	lysine methyltransferase 2B	gene	DOID:9452	steatotic liver disease		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	
8706237	Tsc22d2	TSC22 domain family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8706237	Tsc22d2	TSC22 domain family member 2	gene	DOID:10126	keratoconus		ISO	RGD:1602336	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Keratoconus	
8706237	Tsc22d2	TSC22 domain family member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8706237	Tsc22d2	TSC22 domain family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602336	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8706237	Tsc22d2	TSC22 domain family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706237	Tsc22d2	TSC22 domain family member 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8706237	Tsc22d2	TSC22 domain family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8706237	Tsc22d2	TSC22 domain family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8706244	Dsg2	desmoglein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
8706244	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25087486|PMID:25172079|PMID:25213555|PMID:25332820|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26899768|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28283360|PMID:28341588|PMID:28492532|PMID:28578331|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29544605|PMID:30454721|PMID:30790397|PMID:30885746|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31568572
8706244	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23137101|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25087486|PMID:25172079|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26688388|PMID:26899768|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28283360|PMID:28323875|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28578331|PMID:28818065|PMID:28878402|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29343803|PMID:29396286|PMID:29544605|PMID:29606362|PMID:29759408|PMID:30177324|PMID:30454721|PMID:30790397|PMID:30847666|PMID:30885746|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31645976|PMID:31845994|PMID:31983221|PMID:32746448|PMID:32877757|PMID:32880476|PMID:33232181|PMID:33652588|PMID:33673806|PMID:33919104|PMID:34012299|PMID:34036930|PMID:34317382|PMID:35087879|PMID:35300203
8706244	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25616645|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26296472|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26850880|PMID:26899768|PMID:27055156|PMID:27114410|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28283360|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29544605|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29790872|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34317382|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35653365|PMID:35819174|PMID:36138163|PMID:36621286|PMID:36837563|PMID:37328711|PMID:37418234|PMID:37477868|PMID:9536098
8706244	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Right ventricular cardiomyopathy	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25616645|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26296472|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26850880|PMID:26899768|PMID:27055156|PMID:27114410|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28283360|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29544605|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29790872|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34317382|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35653365|PMID:35819174|PMID:36138163|PMID:36621286|PMID:36837563|PMID:37328711|PMID:37418234|PMID:37477868|PMID:9536098
8706244	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24086444|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24585727|PMID:24618965|PMID:24704780|PMID:24967631|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25616645|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26296472|PMID:26498160|PMID:26585103|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27055156|PMID:27114410|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28283360|PMID:28288337|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29544605|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29790872|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32522011|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33684294|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34317382|PMID:34400560|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35352813|PMID:35653365|PMID:35819174|PMID:35941102|PMID:36138163|PMID:36264615|PMID:36357925|PMID:36621286|PMID:36837563|PMID:37288269|PMID:37328711|PMID:37418234|PMID:37477868|PMID:39227800|PMID:39253717|PMID:9536098
8706244	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24086444|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24585727|PMID:24618965|PMID:24704780|PMID:24967631|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25616645|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26296472|PMID:26498160|PMID:26585103|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27055156|PMID:27114410|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28283360|PMID:28288337|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29544605|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29790872|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32522011|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33684294|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:33996946|PMID:34012299|PMID:34036930|PMID:34317382|PMID:34400560|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35352813|PMID:35653365|PMID:35819174|PMID:35941102|PMID:36138163|PMID:36264615|PMID:36357925|PMID:36621286|PMID:36837563|PMID:37288269|PMID:37328711|PMID:37418234|PMID:37477868|PMID:38417843|PMID:38691546|PMID:38757491|PMID:39227800|PMID:39253717|PMID:40115818|PMID:9536098
8706244	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: arrhythmogenic right ventricular cardiomyopathy	PMID:12586364|PMID:16199547|PMID:16505173|PMID:16773573|PMID:17105751|PMID:17576681|PMID:19151369|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20829228|PMID:20857253|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23871885|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24436435|PMID:24704780|PMID:24967631|PMID:25209314|PMID:25351510|PMID:25616645|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26138720|PMID:26585103|PMID:26688388|PMID:26850880|PMID:26899768|PMID:27532257|PMID:28254188|PMID:28254189|PMID:28283360|PMID:28323875|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28600387|PMID:29016939|PMID:29062102|PMID:29178656|PMID:29343803|PMID:29456632|PMID:29750433|PMID:29759408|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30919572|PMID:31156706|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32268277|PMID:32665702|PMID:32686758|PMID:32746448|PMID:32877757|PMID:32880476|PMID:33238575|PMID:33821670|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34400560|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35087879|PMID:35352813|PMID:35653365|PMID:35819174|PMID:36138163|PMID:36264615|PMID:36357925|PMID:36837563|PMID:37477868|PMID:37745463|PMID:38417843|PMID:38435382|PMID:38691546|PMID:38895864|PMID:39155900|PMID:39706847|PMID:40115818|PMID:40123482|PMID:9536098
8706244	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy	ameliorates	ISO	RGD:1322447	D	RGD:9068941	20231102	RGD			PMID:32376797|REF_RGD_ID:401851071
8706244	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy	severity	ISO	RGD:1322446	D	RGD:9068941	20231102	RGD			PMID:30239670|REF_RGD_ID:401851076
8706244	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy	susceptibility	ISO	RGD:1322446	D	RGD:9068941	20231102	RGD		DNA:mutation:cds: p.Phe531Cys(human)	PMID:30454721|REF_RGD_ID:401851081
8706244	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26822237|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28166811|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29773157|PMID:29802319|PMID:30454721|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30885746|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:33087929|PMID:9536098
8706244	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26822237|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29456632|PMID:29773157|PMID:29802319|PMID:30391969|PMID:30454721|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30885746|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31983221|PMID:32659924|PMID:33087929|PMID:33238575|PMID:9536098
8706244	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26822237|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29456632|PMID:29773157|PMID:29802319|PMID:30391969|PMID:30454721|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30885746|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31983221|PMID:32659924|PMID:33087929|PMID:33238575|PMID:33652588|PMID:33949662|PMID:35087879|PMID:9536098
8706244	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29606362|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32102357|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33652588|PMID:33673806|PMID:33949662|PMID:34012299|PMID:34036930|PMID:34317382|PMID:35087879|PMID:35300203|PMID:35819174|PMID:9536098
8706244	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29606362|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32746448|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33652588|PMID:33673806|PMID:33919104|PMID:33949662|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34426522|PMID:35087879|PMID:35300203|PMID:35819174|PMID:9536098
8706244	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31024045|PMID:31042466|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35819174|PMID:36138163|PMID:36360260|PMID:36621286|PMID:36837563|PMID:37418234|PMID:37477868|PMID:9536098
8706244	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31024045|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35653365|PMID:35819174|PMID:36138163|PMID:36360260|PMID:36621286|PMID:36837563|PMID:37328711|PMID:37418234|PMID:37477868|PMID:9536098
8706244	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31024045|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35653365|PMID:35819174|PMID:36138163|PMID:36264615|PMID:36360260|PMID:36621286|PMID:36837563|PMID:37328711|PMID:37418234|PMID:37477868|PMID:9536098
8706244	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23128240|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24618965|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26296472|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31024045|PMID:31130284|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35653365|PMID:35819174|PMID:35941102|PMID:36138163|PMID:36264615|PMID:36360260|PMID:36621286|PMID:36837563|PMID:37288269|PMID:37328711|PMID:37418234|PMID:37477868|PMID:39227800|PMID:39253717|PMID:9536098
8706244	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23128240|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24618965|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26296472|PMID:26498160|PMID:26585103|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31024045|PMID:31130284|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32522011|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34400560|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35653365|PMID:35819174|PMID:35941102|PMID:36138163|PMID:36264615|PMID:36360260|PMID:36621286|PMID:36837563|PMID:37288269|PMID:37328711|PMID:37418234|PMID:37477868|PMID:38417843|PMID:38691546|PMID:39227800|PMID:39253717|PMID:9536098
8706244	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23128240|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24618965|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26296472|PMID:26498160|PMID:26585103|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31024045|PMID:31130284|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32522011|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:33996946|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34400560|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35653365|PMID:35819174|PMID:35941102|PMID:36138163|PMID:36264615|PMID:36360260|PMID:36621286|PMID:36837563|PMID:37288269|PMID:37328711|PMID:37418234|PMID:37477868|PMID:38417843|PMID:38691546|PMID:38757491|PMID:39227800|PMID:39253717|PMID:40115818|PMID:9536098
8706244	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:12586364|PMID:16199547|PMID:16505173|PMID:16773573|PMID:17105751|PMID:17576681|PMID:18632414|PMID:19151369|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20829228|PMID:20857253|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24618965|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25209314|PMID:25213555|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26585103|PMID:26688388|PMID:26850880|PMID:26899768|PMID:27532257|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28288337|PMID:28471438|PMID:28492532|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28878402|PMID:29016939|PMID:29062102|PMID:29178656|PMID:29343803|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30615648|PMID:30699244|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30993396|PMID:31156706|PMID:31183845|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31638835|PMID:31645976|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32268277|PMID:32522011|PMID:32569162|PMID:32665702|PMID:32686758|PMID:32877757|PMID:32880476|PMID:33087929|PMID:33238575|PMID:33500567|PMID:33821670|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34137518|PMID:34400560|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35087879|PMID:35653365|PMID:35819174|PMID:35941102|PMID:36136372|PMID:36138163|PMID:36264615|PMID:36837563|PMID:37288269|PMID:37418234|PMID:37745463|PMID:37937776|PMID:38375917|PMID:38417843|PMID:38435382|PMID:38691546|PMID:38895864|PMID:39155900|PMID:39227800|PMID:39253717|PMID:39706847|PMID:40115818|PMID:40123482|PMID:9536098
8706244	Dsg2	desmoglein 2	gene	DOID:0060036	intrinsic cardiomyopathy		ISO	RGD:1322447	D	RGD:9068941	20240118	MouseDO			
8706244	Dsg2	desmoglein 2	gene	DOID:0060319	cardiac arrest		ISO	RGD:1322446	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiac arrest	PMID:20400443|PMID:23071725|PMID:23861362|PMID:24070718|PMID:25741868|PMID:28492532|PMID:28600387|PMID:37418234
8706244	Dsg2	desmoglein 2	gene	DOID:0060674	catecholaminergic polymorphic ventricular tachycardia		ISO	RGD:1322446	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia	PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103
8706244	Dsg2	desmoglein 2	gene	DOID:0110077	arrhythmogenic right ventricular dysplasia 9		ISO	RGD:1322446	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9	PMID:16199547|PMID:16773573|PMID:17105751|PMID:19151369|PMID:19863551|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20857253|PMID:21859740|PMID:23671136|PMID:24033266|PMID:25741868|PMID:25820315|PMID:27532257|PMID:28283360|PMID:28492532|PMID:28600387|PMID:30731207|PMID:30790397|PMID:31386562|PMID:31402444|PMID:33238575|PMID:35087879|PMID:35653365
8706244	Dsg2	desmoglein 2	gene	DOID:0110081	arrhythmogenic right ventricular dysplasia 10		ISO	RGD:1322446	D	RGD:7240710	20180130	OMIM			
8706244	Dsg2	desmoglein 2	gene	DOID:0110081	arrhythmogenic right ventricular dysplasia 10		ISO	RGD:1322446	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10	PMID:12586364|PMID:16199547|PMID:16505173|PMID:16773573|PMID:17105751|PMID:17576681|PMID:18632414|PMID:19151369|PMID:19635863|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22036071|PMID:22214898|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23871885|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24086444|PMID:24436435|PMID:24585727|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25209314|PMID:25616645|PMID:25637381|PMID:25741868|PMID:25819062|PMID:25820315|PMID:26138720|PMID:26585103|PMID:26688388|PMID:26850880|PMID:26899768|PMID:27532257|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28283360|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28588093|PMID:28600387|PMID:28611029|PMID:29016939|PMID:29062102|PMID:29178656|PMID:29343803|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30524916|PMID:30615648|PMID:30731207|PMID:30765282|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30993396|PMID:30996762|PMID:31156706|PMID:31376648|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31542937|PMID:31638835|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32102357|PMID:32268277|PMID:32569162|PMID:32665702|PMID:32686758|PMID:32877757|PMID:32880476|PMID:33087929|PMID:33238575|PMID:33500567|PMID:33789662|PMID:33821670|PMID:33874732|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34137518|PMID:34400560|PMID:34428338|PMID:34500006|PMID:34984526|PMID:34998950|PMID:35087879|PMID:35653365|PMID:35819174|PMID:35947370|PMID:36136372|PMID:36138163|PMID:36264615|PMID:36360260|PMID:36837563|PMID:37418234|PMID:37745463|PMID:37937776|PMID:38375917|PMID:38417843|PMID:38435382|PMID:38691546|PMID:38895864|PMID:39071538|PMID:39155900|PMID:39706847|PMID:40115818|PMID:40123482|PMID:9536098
8706244	Dsg2	desmoglein 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1322446	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:21606396|PMID:23071725|PMID:23396983|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28087566|PMID:28472724|PMID:28492532|PMID:29038103|PMID:29517769|PMID:30847666|PMID:32268277|PMID:35087879
8706244	Dsg2	desmoglein 2	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1322446	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	PMID:25741868|PMID:28492532
8706244	Dsg2	desmoglein 2	gene	DOID:0110458	dilated cardiomyopathy 1BB		ISO	RGD:1322446	D	RGD:7240710	20180130	OMIM			
8706244	Dsg2	desmoglein 2	gene	DOID:0110458	dilated cardiomyopathy 1BB		ISO	RGD:1322446	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DSG2-related condition | ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB | ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy	PMID:12586364|PMID:16199547|PMID:16773573|PMID:17105751|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23137101|PMID:23381804|PMID:23671136|PMID:23861362|PMID:23871885|PMID:24033266|PMID:24704780|PMID:24967631|PMID:25209314|PMID:25741868|PMID:25820315|PMID:26220970|PMID:26230511|PMID:26585103|PMID:26688388|PMID:26850880|PMID:27532257|PMID:28074886|PMID:28254188|PMID:28254189|PMID:28471438|PMID:28492532|PMID:28588093|PMID:29178656|PMID:29343803|PMID:29759408|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30790397|PMID:30847666|PMID:30885746|PMID:31156706|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31542937|PMID:31737537|PMID:31845994|PMID:32268277|PMID:32569162|PMID:32665702|PMID:32686758|PMID:32877757|PMID:33500567|PMID:33821670|PMID:33949662|PMID:34500006|PMID:35352813|PMID:35819174|PMID:36138163|PMID:36264615|PMID:38375917|PMID:38417843|PMID:39155900|PMID:39706847|PMID:40115818|PMID:40123482|PMID:41652012
8706244	Dsg2	desmoglein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1322446	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8706244	Dsg2	desmoglein 2	gene	DOID:11830	myopia		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:23861362|PMID:25741868|PMID:28492532
8706244	Dsg2	desmoglein 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:20400443|PMID:23071725|PMID:23861362|PMID:24070718|PMID:25741868|PMID:28492532|PMID:28600387|PMID:37418234
8706244	Dsg2	desmoglein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28492532|PMID:29802319|PMID:30885746
8706244	Dsg2	desmoglein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28492532|PMID:28600387|PMID:29802319|PMID:30885746
8706244	Dsg2	desmoglein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28323875|PMID:28492532|PMID:28600387|PMID:29802319|PMID:30885746|PMID:31983221
8706244	Dsg2	desmoglein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28323875|PMID:28492532|PMID:28600387|PMID:29016939|PMID:29802319|PMID:30885746|PMID:31983221
8706244	Dsg2	desmoglein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28323875|PMID:28492532|PMID:28600387|PMID:29016939|PMID:29802319|PMID:30615648|PMID:30885746|PMID:31983221|PMID:34137518
8706244	Dsg2	desmoglein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26220970|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28074886|PMID:28087566|PMID:28323875|PMID:28492532|PMID:28600387|PMID:29016939|PMID:29802319|PMID:30615648|PMID:30885746|PMID:31983221|PMID:34137518|PMID:34998950
8706244	Dsg2	desmoglein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26220970|PMID:26230511|PMID:28074886|PMID:28087566|PMID:28323875|PMID:28492532|PMID:29016939|PMID:29802319|PMID:30615648|PMID:30885746|PMID:31983221|PMID:34137518|PMID:34998950
8706244	Dsg2	desmoglein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:21606390|PMID:23299917|PMID:24033266|PMID:25059832|PMID:25741868|PMID:28087566|PMID:28492532|PMID:29802319|PMID:30615648|PMID:30885746|PMID:34137518
8706244	Dsg2	desmoglein 2	gene	DOID:1324	lung cancer		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8706244	Dsg2	desmoglein 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1322446	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:35087879
8706244	Dsg2	desmoglein 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1322446	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23071725|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28087566|PMID:28472724|PMID:28492532|PMID:29038103|PMID:32268277|PMID:35087879
8706244	Dsg2	desmoglein 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:25741868|PMID:28492532
8706244	Dsg2	desmoglein 2	gene	DOID:3275	thymoma		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8706244	Dsg2	desmoglein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8706244	Dsg2	desmoglein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8706244	Dsg2	desmoglein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8706244	Dsg2	desmoglein 2	gene	DOID:7998	hyperthyroidism		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:23861362|PMID:25741868|PMID:28492532
8706244	Dsg2	desmoglein 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1322446	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:20400443|PMID:23071725|PMID:23861362|PMID:24070718|PMID:25741868|PMID:28492532|PMID:28600387|PMID:37418234
8706244	Dsg2	desmoglein 2	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1322446	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098
8706244	Dsg2	desmoglein 2	gene	DOID:9001733	Tinnitus		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:23861362|PMID:25741868|PMID:28492532
8706244	Dsg2	desmoglein 2	gene	DOID:9003139	Cardiac Fibrosis	disease_progression	ISO	RGD:1322447	D	RGD:9068941	20231102	RGD			PMID:21455723|REF_RGD_ID:401851067
8706244	Dsg2	desmoglein 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	PMID:16199547|PMID:17105751|PMID:20400443|PMID:20716751|PMID:20857253|PMID:21859740|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28600387|PMID:30731207|PMID:30790397|PMID:31386562|PMID:31402444|PMID:33238575|PMID:35087879|PMID:35653365
8706244	Dsg2	desmoglein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
8706244	Dsg2	desmoglein 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:23861362|PMID:25741868|PMID:28492532
8706244	Dsg2	desmoglein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12586364|PMID:16773573|PMID:20031616|PMID:20031617|PMID:20400443|PMID:20857253|PMID:21606390|PMID:21606396|PMID:23071725|PMID:23137101|PMID:23381804|PMID:24033266|PMID:24704780|PMID:24967631|PMID:25741868|PMID:26688388|PMID:28492532|PMID:29178656|PMID:29343803|PMID:30790397|PMID:31386562|PMID:31542937|PMID:31845994|PMID:32268277|PMID:33821670
8706244	Dsg2	desmoglein 2	gene	DOID:9538	multiple myeloma	disease_progression	ISO	RGD:1322446	D	RGD:9068941	20231102	RGD			PMID:34245117|REF_RGD_ID:401851080
8706244	Dsg2	desmoglein 2	gene	DOID:9651	systolic heart failure		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Systolic heart failure	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
8706244	Dsg2	desmoglein 2	gene	DOID:9970	obesity		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:23861362|PMID:25741868|PMID:28492532
8706263	Ube2j2	ubiquitin conjugating enzyme E2 J2	gene	DOID:10534	stomach cancer		ISO	RGD:1343973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8706263	Ube2j2	ubiquitin conjugating enzyme E2 J2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8706263	Ube2j2	ubiquitin conjugating enzyme E2 J2	gene	DOID:1115	sarcoma		ISO	RGD:1343973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8706263	Ube2j2	ubiquitin conjugating enzyme E2 J2	gene	DOID:1909	melanoma		ISO	RGD:1343973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8706263	Ube2j2	ubiquitin conjugating enzyme E2 J2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706263	Ube2j2	ubiquitin conjugating enzyme E2 J2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8706263	Ube2j2	ubiquitin conjugating enzyme E2 J2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8706263	Ube2j2	ubiquitin conjugating enzyme E2 J2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8706302	Emd	emerin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8706302	Emd	emerin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:735605	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8706302	Emd	emerin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8706302	Emd	emerin	gene	DOID:0051073	dilated cardiomyopathy 3C		ISO	RGD:735605	D	RGD:7240710	20260311	OMIM			
8706302	Emd	emerin	gene	DOID:0051073	dilated cardiomyopathy 3C		ISO	RGD:735605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 3C	PMID:28492532
8706302	Emd	emerin	gene	DOID:0070246	X-linked Emery-Dreifuss muscular dystrophy 1		ISO	RGD:735605	D	RGD:7240710	20180912	OMIM			
8706302	Emd	emerin	gene	DOID:0070246	X-linked Emery-Dreifuss muscular dystrophy 1		ISO	RGD:735605	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures	PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10399752|PMID:10480214|PMID:11385714|PMID:15967842|PMID:16080119|PMID:16199547|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19997654|PMID:20474083|PMID:21496632|PMID:21520333|PMID:21697856|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:25030574|PMID:25210889|PMID:25741868|PMID:26187847|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26675233|PMID:26899768|PMID:28492532|PMID:31185657|PMID:31474437|PMID:31475473|PMID:32860008|PMID:34524739|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098
8706302	Emd	emerin	gene	DOID:0070246	X-linked Emery-Dreifuss muscular dystrophy 1		ISO	RGD:735605	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures	PMID:10382909|PMID:10382910|PMID:10480214|PMID:11385714|PMID:15009215|PMID:16199547|PMID:17576681|PMID:17620497|PMID:21697856|PMID:24033266|PMID:24365856|PMID:24375709|PMID:25210889|PMID:25741868|PMID:26415001|PMID:26467025|PMID:28492532|PMID:30086531|PMID:30847666|PMID:31645980|PMID:32549231|PMID:32600061|PMID:32860008|PMID:32880476|PMID:34026875|PMID:37198425|PMID:8595433|PMID:9384614|PMID:9536090|PMID:9536098
8706302	Emd	emerin	gene	DOID:0070251	X-linked Emery-Dreifuss muscular dystrophy 6		ISO	RGD:735605	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy	PMID:25741868
8706302	Emd	emerin	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:735605	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:28492532
8706302	Emd	emerin	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:735605	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	PMID:25741868
8706302	Emd	emerin	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:735605	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:10323252|PMID:10382909|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:11385714|PMID:1178008|PMID:15967842|PMID:16080119|PMID:17067998|PMID:17355552|PMID:17576681|PMID:18646565|PMID:19345147|PMID:1998333|PMID:20474083|PMID:21496632|PMID:21697856|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24503780|PMID:25741868|PMID:26187847|PMID:26415001|PMID:26467025|PMID:26675233|PMID:26899768|PMID:28492532|PMID:31185657|PMID:31474437|PMID:32860008|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098
8706302	Emd	emerin	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:735605	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:10323252|PMID:10382909|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:11385714|PMID:1178008|PMID:15967842|PMID:16080119|PMID:17067998|PMID:17355552|PMID:17576681|PMID:18646565|PMID:19345147|PMID:1998333|PMID:20474083|PMID:21496632|PMID:21697856|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24503780|PMID:25741868|PMID:26187847|PMID:26415001|PMID:26467025|PMID:26675233|PMID:26820365|PMID:26899768|PMID:28492532|PMID:29961767|PMID:31024910|PMID:31185657|PMID:31474437|PMID:32860008|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098
8706302	Emd	emerin	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:735605	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:10220866|PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:10874323|PMID:11385714|PMID:11587540|PMID:11748843|PMID:1178008|PMID:11968085|PMID:12872622|PMID:15328537|PMID:15967842|PMID:16080119|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19377476|PMID:19396829|PMID:19846429|PMID:1998333|PMID:19997654|PMID:20474083|PMID:20730588|PMID:21496632|PMID:21520333|PMID:21697856|PMID:21993399|PMID:22281021|PMID:22382802|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23409742|PMID:23660394|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:24962355|PMID:25030574|PMID:25210889|PMID:25741868|PMID:26187847|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26471271|PMID:26675233|PMID:26820365|PMID:26899768|PMID:27854218|PMID:28492532|PMID:29334594|PMID:29349559|PMID:29961767|PMID:30079154|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31474437|PMID:31475473|PMID:31645980|PMID:31718017|PMID:32860008|PMID:32880476|PMID:33124102|PMID:34026875|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098
8706302	Emd	emerin	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:735605	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:10220866|PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:10874323|PMID:11385714|PMID:11587540|PMID:11748843|PMID:1178008|PMID:11968085|PMID:12872622|PMID:15328537|PMID:15967842|PMID:16080119|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19377476|PMID:19396829|PMID:19846429|PMID:1998333|PMID:19997654|PMID:20474083|PMID:20730588|PMID:21496632|PMID:21520333|PMID:21697856|PMID:21993399|PMID:22281021|PMID:22382802|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23409742|PMID:23660394|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:24962355|PMID:25030574|PMID:25210889|PMID:25326637|PMID:25741868|PMID:26187847|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26471271|PMID:26675233|PMID:26820365|PMID:26899768|PMID:28492532|PMID:29334594|PMID:29349559|PMID:29961767|PMID:30079154|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31474437|PMID:31475473|PMID:31645980|PMID:31718017|PMID:31977013|PMID:32860008|PMID:32880476|PMID:33124102|PMID:34026875|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098
8706302	Emd	emerin	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:735605	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:10220866|PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:10874323|PMID:11385714|PMID:11587540|PMID:11748843|PMID:1178008|PMID:11968085|PMID:12872622|PMID:15328537|PMID:15967842|PMID:16080119|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19377476|PMID:19396829|PMID:19846429|PMID:1998333|PMID:19997654|PMID:20474083|PMID:20730588|PMID:21496632|PMID:21520333|PMID:21697856|PMID:21993399|PMID:22281021|PMID:22382802|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23409742|PMID:23660394|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:24962355|PMID:25030574|PMID:25210889|PMID:25741868|PMID:26187847|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26471271|PMID:26675233|PMID:26820365|PMID:26899768|PMID:28492532|PMID:29334594|PMID:29349559|PMID:29961767|PMID:30079154|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31474437|PMID:31475473|PMID:31645980|PMID:31718017|PMID:31977013|PMID:32860008|PMID:32880476|PMID:33124102|PMID:34026875|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098
8706302	Emd	emerin	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:735605	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10480214|PMID:10677860|PMID:11587540|PMID:12490172|PMID:12736087|PMID:15328537|PMID:15967842|PMID:16199547|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19997654|PMID:21520333|PMID:21697856|PMID:21993399|PMID:23395478|PMID:24033266|PMID:24365856|PMID:24375709|PMID:25210889|PMID:25741868|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26675233|PMID:26899768|PMID:28492532|PMID:29349559|PMID:30079154|PMID:30086531|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31474437|PMID:31475473|PMID:31645980|PMID:31690835|PMID:31718017|PMID:31977013|PMID:32600061|PMID:32860008|PMID:32880476|PMID:33124102|PMID:34524739|PMID:34906502|PMID:37198425|PMID:38337354|PMID:39634247|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9536090|PMID:9536098
8706302	Emd	emerin	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:735605	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10480214|PMID:10677860|PMID:11587540|PMID:12490172|PMID:12736087|PMID:15328537|PMID:15967842|PMID:16199547|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19997654|PMID:21520333|PMID:21697856|PMID:23395478|PMID:24033266|PMID:24365856|PMID:24375709|PMID:25210889|PMID:25741868|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26675233|PMID:26899768|PMID:28492532|PMID:29349559|PMID:30086531|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31474437|PMID:31475473|PMID:31645980|PMID:31690835|PMID:31977013|PMID:32600061|PMID:32860008|PMID:32880476|PMID:33124102|PMID:34524739|PMID:34906502|PMID:37198425|PMID:38337354|PMID:39634247|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9536090|PMID:9536098
8706302	Emd	emerin	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:735605	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868
8706302	Emd	emerin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial dilated cardiomyopathy	PMID:25741868
8706302	Emd	emerin	gene	DOID:1324	lung cancer		ISO	RGD:735605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8706302	Emd	emerin	gene	DOID:440	neuromuscular disease		ISO	RGD:735605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:16199547|PMID:18646565|PMID:24033266|PMID:24365856|PMID:28492532|PMID:8595407
8706302	Emd	emerin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706302	Emd	emerin	gene	DOID:9001276	Failure to Thrive		ISO	RGD:735605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8706302	Emd	emerin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8706328	Klf9	KLF transcription factor 9	gene	DOID:289	endometriosis		ISO	RGD:1350312	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
8706328	Klf9	KLF transcription factor 9	gene	DOID:50	thyroid gland disease		ISO	RGD:1350312	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23397585
8706328	Klf9	KLF transcription factor 9	gene	DOID:9007633	Body Weight		ISO	RGD:1350312	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22344221
8706328	Klf9	KLF transcription factor 9	gene	DOID:9775	diastolic heart failure		ISO	RGD:1350312	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
8706344	Mc2r	melanocortin 2 receptor	gene	DOID:0050562	West syndrome		ISO	RGD:1348934	D	RGD:9068941	20200609	RGD		DNA:snps:promoter:multiple (human)	PMID:19024088|REF_RGD_ID:6484693
8706344	Mc2r	melanocortin 2 receptor	gene	DOID:0080621	glucocorticoid deficiency 1		ISO	RGD:1348934	D	RGD:7240710	20180130	OMIM			
8706344	Mc2r	melanocortin 2 receptor	gene	DOID:0080621	glucocorticoid deficiency 1		ISO	RGD:1348934	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Adrenal unresponsiveness to acth | ClinVar Annotator: match by term: GLUCOCORTICOID DEFICIENCY 1 | ClinVar Annotator: match by term: Glucocorticoid deficiency 1	PMID:10443676|PMID:10971458|PMID:12213892|PMID:14960026|PMID:16271481|PMID:17128565|PMID:17223989|PMID:18059087|PMID:18407210|PMID:18504396|PMID:18840636|PMID:19170705|PMID:19558534|PMID:21932602|PMID:25741868|PMID:26523528|PMID:26650942|PMID:28492532|PMID:33247909|PMID:34258490|PMID:7829641|PMID:8069303|PMID:8094489|PMID:8227361|PMID:8250922|PMID:8636348|PMID:9550364|PMID:9758716
8706344	Mc2r	melanocortin 2 receptor	gene	DOID:10763	hypertension		ISO	RGD:1348934	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11082157
8706344	Mc2r	melanocortin 2 receptor	gene	DOID:13580	cholestasis		ISO	RGD:1348934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:25741868
8706344	Mc2r	melanocortin 2 receptor	gene	DOID:14115	toxic shock syndrome		ISO	RGD:628649	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:2822467|REF_RGD_ID:6484558
8706344	Mc2r	melanocortin 2 receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:1348934	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8706344	Mc2r	melanocortin 2 receptor	gene	DOID:630	genetic disease		ISO	RGD:1348934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8706344	Mc2r	melanocortin 2 receptor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1348934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8706344	Mc2r	melanocortin 2 receptor	gene	DOID:9001878	Disorders of Environmental Origin		ISO	RGD:628649	D	RGD:9068941	20250717	RGD		associated with BBOP exposure; mRNA, protein:increased expression:adrenal cortex	PMID:35762508|REF_RGD_ID:617212669
8706344	Mc2r	melanocortin 2 receptor	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1348934	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8706344	Mc2r	melanocortin 2 receptor	gene	DOID:9004713	Acute-Phase Reaction		ISO	RGD:628649	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:22183812|REF_RGD_ID:6484138
8706344	Mc2r	melanocortin 2 receptor	gene	DOID:9005683	Metabolic Brain Diseases, Inborn		ISO	RGD:1348934	D	RGD:9068941	20200609	RGD		Familial glucocorticoid deficiency (ACTH resistance), OMIM:202200	PMID:12213892|REF_RGD_ID:1600747
8706344	Mc2r	melanocortin 2 receptor	gene	DOID:9005683	Metabolic Brain Diseases, Inborn		ISO	RGD:1348934	D	RGD:9068941	20200609	RGD		familial glucocorticoid deficiency (ACTJ resistance), OMIM:202200	PMID:8094489|REF_RGD_ID:1600745
8706344	Mc2r	melanocortin 2 receptor	gene	DOID:9007480	Hyperoxia		ISO	RGD:1553230	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:8110467|REF_RGD_ID:6484136
8706344	Mc2r	melanocortin 2 receptor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:21914562|PMID:25741868|PMID:28492532
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:0050758	metabolic acidosis		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:25741868|PMID:38177409
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:0060058	lymphoma		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:0060249	scoliosis		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:38177409
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:12651851|PMID:19517265
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:0070297	primary microcephaly		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:23021068|PMID:25741868|PMID:28918066|PMID:34490615|PMID:37688338|PMID:8598634
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:736556	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	PMID:10679936|PMID:1338114|PMID:1779625|PMID:20002461|PMID:21846590|PMID:21914562|PMID:23021068|PMID:24718837|PMID:25741868|PMID:26865159|PMID:27629047|PMID:28492532|PMID:28918066|PMID:29756269|PMID:35943828|PMID:36495297|PMID:37229200|PMID:7981697|PMID:8504306|PMID:8504309
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:0080918	polymicrogyria		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066|PMID:35943828
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:20958858|PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:1059	intellectual disability		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:20958858|PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066|PMID:35943828
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:1059	intellectual disability		ISO	RGD:736556	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:10679936|PMID:1338114|PMID:1779625|PMID:20002461|PMID:20958858|PMID:21846590|PMID:21914562|PMID:23021068|PMID:24718837|PMID:25741868|PMID:26865159|PMID:27629047|PMID:28492532|PMID:28918066|PMID:29756269|PMID:35943828|PMID:36495297|PMID:37229200|PMID:7981697|PMID:8504306|PMID:8504309
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:10907	microcephaly		ISO	RGD:736556	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:17043409|PMID:23021068|PMID:25741868|PMID:28918066|PMID:34490615|PMID:37688338|PMID:38177409|PMID:8598634
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:10908	hydrocephalus		ISO	RGD:736556	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hydrocephalus | ClinVar Annotator: match by term: Ventriculomegaly	PMID:10679936|PMID:1338114|PMID:1779625|PMID:20002461|PMID:21846590|PMID:21914562|PMID:23021068|PMID:24718837|PMID:25741868|PMID:26865159|PMID:27629047|PMID:28492532|PMID:28918066|PMID:29756269|PMID:35943828|PMID:36495297|PMID:37229200|PMID:7981697|PMID:8504306|PMID:8504309
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:11111	hydronephrosis		ISO	RGD:736556	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:10679936|PMID:1338114|PMID:1779625|PMID:20002461|PMID:21846590|PMID:21914562|PMID:23021068|PMID:24718837|PMID:25741868|PMID:26865159|PMID:27629047|PMID:28492532|PMID:28918066|PMID:29756269|PMID:36495297|PMID:37229200|PMID:7981697|PMID:8504306|PMID:8504309
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:1143	exotropia		ISO	RGD:736556	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:10679936|PMID:1293379|PMID:15384102|PMID:20002461|PMID:21846590|PMID:21914562|PMID:22079328|PMID:22142326|PMID:23112753|PMID:25356417|PMID:25495354|PMID:25741868|PMID:26865159|PMID:28492532|PMID:28918066|PMID:33629572|PMID:33958329|PMID:8352855|PMID:8664900|PMID:8962591|PMID:9671272
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:13620	patent foramen ovale		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868|PMID:28492532
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:1459	hypothyroidism		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28492532|PMID:38177409
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:1826	epilepsy		ISO	RGD:736556	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10679936|PMID:1338114|PMID:1779625|PMID:20002461|PMID:21846590|PMID:21914562|PMID:23021068|PMID:24718837|PMID:25741868|PMID:26865159|PMID:27629047|PMID:28492532|PMID:28918066|PMID:29756269|PMID:36495297|PMID:37229200|PMID:38177409|PMID:7981697|PMID:8504306|PMID:8504309
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868|PMID:28492532|PMID:29286531
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:2394	ovarian cancer		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:3275	thymoma		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:3649	pyruvate decarboxylase deficiency		ISO	RGD:736556	D	RGD:7240710	20180130	OMIM			
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:3649	pyruvate decarboxylase deficiency		ISO	RGD:736556	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency | ClinVar Annotator: match by term: Pyruvate decarboxylase deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase deficiency	PMID:10679936|PMID:10767328|PMID:1293379|PMID:1338114|PMID:15384102|PMID:16199547|PMID:16552546|PMID:16967364|PMID:1779625|PMID:18197404|PMID:19332025|PMID:20002461|PMID:20691944|PMID:20958858|PMID:21846590|PMID:21914562|PMID:23021068|PMID:23871722|PMID:24718837|PMID:25741868|PMID:26014431|PMID:26865159|PMID:26987331|PMID:27144126|PMID:27290639|PMID:27629047|PMID:28252636|PMID:28492532|PMID:28918066|PMID:29756269|PMID:29882371|PMID:30634555|PMID:32348839|PMID:33092611|PMID:33204598|PMID:35132535|PMID:35943828|PMID:36495297|PMID:36693417|PMID:37229200|PMID:38497591|PMID:38549004|PMID:38703036|PMID:38759022|PMID:7887409|PMID:7981697|PMID:8032855|PMID:8504306|PMID:8504309|PMID:8598634|PMID:8844217|PMID:8962591|PMID:9671272
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:3650	lactic acidosis		ISO	RGD:736556	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2537010
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:4362	cervical cancer		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736556	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:540	strabismus		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:38177409
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:543	dystonia		ISO	RGD:736556	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:17043409|PMID:20958858|PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:5723	optic atrophy		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066|PMID:35943828
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736556	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:630	genetic disease		ISO	RGD:736556	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10375397|PMID:10679936|PMID:10767328|PMID:10872106|PMID:1301207|PMID:1338114|PMID:15384102|PMID:15473177|PMID:16713755|PMID:1779625|PMID:1909401|PMID:20002125|PMID:20002461|PMID:20958858|PMID:21470495|PMID:21846590|PMID:21914562|PMID:22142326|PMID:23021068|PMID:23871722|PMID:24718837|PMID:25741868|PMID:26865159|PMID:27144126|PMID:27629047|PMID:28492532|PMID:28639102|PMID:28918066|PMID:29756269|PMID:29970614|PMID:32348839|PMID:33092611|PMID:34490615|PMID:35132535|PMID:35620925|PMID:36495297|PMID:37229200|PMID:37688338|PMID:38497591|PMID:39118480|PMID:7757088|PMID:7759088|PMID:7887409|PMID:7981697|PMID:8032855|PMID:8352855|PMID:8504306|PMID:8504309|PMID:8598634|PMID:8962591|PMID:9409363
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:8398	osteoarthritis		ISO	RGD:736556	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:8488	polyhydramnios		ISO	RGD:736556	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:10679936|PMID:1338114|PMID:1779625|PMID:20002461|PMID:21846590|PMID:21914562|PMID:23021068|PMID:24718837|PMID:25741868|PMID:26865159|PMID:27629047|PMID:28492532|PMID:28918066|PMID:29756269|PMID:36495297|PMID:37229200|PMID:7981697|PMID:8504306|PMID:8504309
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:8927	learning disability		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066|PMID:35943828
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:736556	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9000918	Disease Progression		ISO	RGD:736556	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9000982	Pyruvate Dehydrogenase E1 Alpha Deficiency		ISO	RGD:736556	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY | ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency	PMID:10375397|PMID:10486093|PMID:10567050|PMID:10679936|PMID:10767328|PMID:10775534|PMID:11102541|PMID:11241048|PMID:11757583|PMID:11870584|PMID:12163191|PMID:12227466|PMID:12379317|PMID:12551913|PMID:1293379|PMID:1301207|PMID:1338114|PMID:14635113|PMID:1508605|PMID:15384102|PMID:15473177|PMID:1551669|PMID:15558317|PMID:16199547|PMID:16256390|PMID:16412675|PMID:16552546|PMID:16713755|PMID:16967364|PMID:16981164|PMID:17043409|PMID:17576681|PMID:1770778|PMID:1779625|PMID:18023225|PMID:18197404|PMID:18273899|PMID:18398624|PMID:18504677|PMID:18559466|PMID:18692904|PMID:18709504|PMID:1907799|PMID:1909401|PMID:19517265|PMID:19639391|PMID:19852779|PMID:2000212|PMID:20002125|PMID:20002461|PMID:20462777|PMID:20691944|PMID:20958858|PMID:21454027|PMID:21470495|PMID:21723463|PMID:21812000|PMID:21846590|PMID:21914562|PMID:22079328|PMID:22142326|PMID:23021068|PMID:23572181|PMID:23871722|PMID:24718837|PMID:25356417|PMID:2537010|PMID:25582476|PMID:25590979|PMID:25741868|PMID:26008863|PMID:26014431|PMID:26402642|PMID:26633542|PMID:26865159|PMID:26944031|PMID:26987331|PMID:27144126|PMID:27290639|PMID:27629047|PMID:27894792|PMID:27896082|PMID:27896109|PMID:28252636|PMID:28492532|PMID:28495245|PMID:28584645|PMID:28639102|PMID:28918066|PMID:29204204|PMID:29756269|PMID:29758562|PMID:29882371|PMID:29970614|PMID:30634555|PMID:30799092|PMID:31618753|PMID:31658717|PMID:31673819|PMID:32348839|PMID:33092611|PMID:33204598|PMID:33504798|PMID:33592356|PMID:33629572|PMID:34138529|PMID:34156167|PMID:34490615|PMID:34732400|PMID:34863613|PMID:35038180|PMID:35094435|PMID:35132535|PMID:35620925|PMID:35943828|PMID:36225105|PMID:36495297|PMID:36675121|PMID:36693417|PMID:36805432|PMID:36943625|PMID:37160702|PMID:37229200|PMID:37479690|PMID:37688338|PMID:37787965|PMID:38177409|PMID:38268232|PMID:38286917|PMID:38374194|PMID:38497591|PMID:38549004|PMID:38703036|PMID:38759022|PMID:7545958|PMID:7573035|PMID:7692352|PMID:7757088|PMID:7759088|PMID:7808831|PMID:7887409|PMID:7898978|PMID:7937579|PMID:7967473|PMID:7981697|PMID:8023225|PMID:8032855|PMID:8199595|PMID:8281161|PMID:8352855|PMID:8353499|PMID:8504306|PMID:8504309|PMID:8535453|PMID:8598634|PMID:8598635|PMID:8664900|PMID:8771169|PMID:8844217|PMID:8962591|PMID:9187674|PMID:9266390|PMID:9409363|PMID:9430319|PMID:9536098|PMID:9671272|PMID:9686362
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:736556	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:10679936|PMID:1338114|PMID:1779625|PMID:20002461|PMID:21846590|PMID:21914562|PMID:23021068|PMID:24718837|PMID:25741868|PMID:26865159|PMID:27629047|PMID:28492532|PMID:28918066|PMID:29756269|PMID:35943828|PMID:36495297|PMID:37229200|PMID:38177409|PMID:7981697|PMID:8504306|PMID:8504309
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736556	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881|PMID:29335542
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9002994	Pyruvate Metabolism, Inborn Errors		ISO	RGD:736556	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2378353
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:736556	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:10679936|PMID:15473177|PMID:16713755|PMID:1909401|PMID:20002125|PMID:20002461|PMID:21914562|PMID:22142326|PMID:23021068|PMID:24718837|PMID:25741868|PMID:28492532|PMID:28639102|PMID:28918066|PMID:33092611|PMID:35620925|PMID:7887409|PMID:8032855|PMID:8962591|PMID:9409363
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066|PMID:34490615|PMID:35943828|PMID:37688338|PMID:8598634
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:28492532|PMID:38703036
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736556	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:10679936|PMID:1293379|PMID:15384102|PMID:15473177|PMID:16713755|PMID:1909401|PMID:20002125|PMID:20002461|PMID:21846590|PMID:21914562|PMID:22079328|PMID:22142326|PMID:23021068|PMID:23112753|PMID:24718837|PMID:25356417|PMID:25495354|PMID:25741868|PMID:26865159|PMID:28492532|PMID:28639102|PMID:28918066|PMID:33092611|PMID:33629572|PMID:33958329|PMID:34490615|PMID:35620925|PMID:35943828|PMID:37688338|PMID:38703036|PMID:7887409|PMID:8032855|PMID:8352855|PMID:8598634|PMID:8664900|PMID:8962591|PMID:9409363|PMID:9671272
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736556	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:10679936|PMID:1338114|PMID:15473177|PMID:16713755|PMID:1779625|PMID:1909401|PMID:20002125|PMID:20002461|PMID:21846590|PMID:21914562|PMID:22142326|PMID:23021068|PMID:24718837|PMID:25741868|PMID:26865159|PMID:27629047|PMID:28492532|PMID:28639102|PMID:28918066|PMID:29756269|PMID:33092611|PMID:34490615|PMID:35620925|PMID:35943828|PMID:36495297|PMID:37229200|PMID:37688338|PMID:38703036|PMID:7887409|PMID:7981697|PMID:8032855|PMID:8504306|PMID:8504309|PMID:8598634|PMID:8962591|PMID:9409363
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9005926	Leigh Syndrome, X-Linked		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: X-linked Leigh syndrome	PMID:10679936|PMID:10767328|PMID:15384102|PMID:16199547|PMID:16552546|PMID:16967364|PMID:20002461|PMID:20958858|PMID:21846590|PMID:21914562|PMID:23021068|PMID:24718837|PMID:25741868|PMID:27144126|PMID:27290639|PMID:28252636|PMID:28492532|PMID:28918066|PMID:29756269|PMID:32348839|PMID:35132535|PMID:36693417|PMID:38497591|PMID:38703036|PMID:7887409|PMID:7981697|PMID:8844217
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9006202	Pruritus		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pruritus	PMID:25741868|PMID:28492532|PMID:38703036
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:21914562|PMID:28918066|PMID:38600369
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sudden infant death syndrome	PMID:10679936|PMID:16713755|PMID:1909401|PMID:20002125|PMID:20002461|PMID:21908116|PMID:21914562|PMID:24718837|PMID:25741868|PMID:27629047|PMID:28492532|PMID:28639102|PMID:28918066|PMID:33092611|PMID:35027292|PMID:36675121|PMID:8962591
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:736556	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9007114	Mobility Limitation		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:20958858|PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9007661	Dwarfism		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:38177409
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736556	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10679936|PMID:1338114|PMID:15473177|PMID:16713755|PMID:1779625|PMID:1909401|PMID:20002125|PMID:20002461|PMID:20958858|PMID:21846590|PMID:21914562|PMID:22142326|PMID:23021068|PMID:24718837|PMID:25741868|PMID:26865159|PMID:27629047|PMID:28492532|PMID:28639102|PMID:28918066|PMID:29756269|PMID:33092611|PMID:34490615|PMID:35620925|PMID:36495297|PMID:37229200|PMID:37688338|PMID:7887409|PMID:7981697|PMID:8032855|PMID:8504306|PMID:8504309|PMID:8598634|PMID:8962591|PMID:9409363
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:736556	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	PMID:10679936|PMID:1338114|PMID:1779625|PMID:20002461|PMID:21846590|PMID:21914562|PMID:23021068|PMID:24718837|PMID:25741868|PMID:26865159|PMID:27629047|PMID:28492532|PMID:28918066|PMID:29756269|PMID:36495297|PMID:37229200|PMID:7981697|PMID:8504306|PMID:8504309
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:736556	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:10679936|PMID:1338114|PMID:1779625|PMID:20002461|PMID:21846590|PMID:21914562|PMID:23021068|PMID:24718837|PMID:25741868|PMID:26865159|PMID:27629047|PMID:28492532|PMID:28918066|PMID:29756269|PMID:36495297|PMID:37229200|PMID:7981697|PMID:8504306|PMID:8504309
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:936	brain disease		ISO	RGD:736556	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:17043409|PMID:25741868
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0050974	spinocerebellar ataxia 25		ISO	RGD:1317494	D	RGD:7240710	20220720	OMIM			
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0050974	spinocerebellar ataxia 25		ISO	RGD:1317494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 25 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 25	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:30544257|PMID:33199448|PMID:34440436|PMID:35411967|PMID:38374498
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0110521	autosomal recessive nonsyndromic deafness 70		ISO	RGD:1317494	D	RGD:7240710	20180130	OMIM			
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0110521	autosomal recessive nonsyndromic deafness 70		ISO	RGD:1317494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 70 | ClinVar Annotator: match by term: Deafness, autosomal recessive 70	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448|PMID:38374498
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0111467	combined oxidative phosphorylation deficiency 13		ISO	RGD:1317494	D	RGD:7240710	20180130	OMIM			
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0111467	combined oxidative phosphorylation deficiency 13		ISO	RGD:1317494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 13	PMID:17576681|PMID:25741868|PMID:26633542|PMID:27759031|PMID:28492532|PMID:33812062|PMID:34440436|PMID:9536098
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:11830	myopia		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:1596	depressive disorder		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:1826	epilepsy		ISO	RGD:1317494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:3650	lactic acidosis		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317494	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:5419	schizophrenia		ISO	RGD:1317494	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1317494	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11080643|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28645153|PMID:30046113|PMID:30831263|PMID:31164858|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33199448
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1317494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:28645153|PMID:30046113|PMID:31164858|PMID:33199448
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317494	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:11080643|PMID:25326635|PMID:25457163|PMID:25741868|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532|PMID:28594066|PMID:30244537|PMID:32020600
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9004866	Ataxia		ISO	RGD:1317494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:11080643|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33199448
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9007966	Nonsyndromic Sensorineural Hearing Loss		ISO	RGD:1317494	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:c.1424A>G(p.E475G)(human)	PMID:23084290|REF_RGD_ID:11554169
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1317494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:28492532|PMID:28594066|PMID:30244537
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9834	hyperopia		ISO	RGD:1317494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
8706379	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9840	esotropia		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:11080643|PMID:25326635|PMID:25457163|PMID:25741868|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153
8706434	Ppp3r2	protein phosphatase 3 regulatory subunit B, beta	gene	DOID:0081292	traumatic brain injury		ISO	RGD:69232	D	RGD:9068941	20200609	RGD			PMID:20713027|REF_RGD_ID:13830881
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316107	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1316107	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14729820
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1316107	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency	PMID:17576681|PMID:20818383|PMID:20819849|PMID:24215330|PMID:24642831|PMID:25741868|PMID:27502960|PMID:27604308|PMID:28031252|PMID:28492532|PMID:9536098
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:0112066	nuclear type mitochondrial complex I deficiency 6		ISO	RGD:1316107	D	RGD:7240710	20190315	OMIM			
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:0112066	nuclear type mitochondrial complex I deficiency 6		ISO	RGD:1316107	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 6	PMID:11220739|PMID:17576681|PMID:20818383|PMID:20819849|PMID:25741868|PMID:28031252|PMID:28492532|PMID:29272804|PMID:29353736|PMID:30634555|PMID:31180159|PMID:31411514|PMID:32180488|PMID:36462614|PMID:9536098
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1316107	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:17576681|PMID:25741868|PMID:28031252|PMID:28492532|PMID:9536098
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:10534	stomach cancer		ISO	RGD:1316107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:20818383|PMID:28492532|PMID:31411514
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316107	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:11984	hypertrophic cardiomyopathy	susceptibility	ISO	RGD:1316107	D	RGD:9068941	20200609	RGD		associated with Mitochondrial Encephalomyopathies;DNA:missense mutations: :p.R228Q, p.P229Q, p.S413P (human)	PMID:11220739|REF_RGD_ID:1600573
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:1324	lung cancer		ISO	RGD:1316107	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:2377	multiple sclerosis		ISO	RGD:1316107	D	RGD:9068941	20200609	RGD			PMID:18682780|REF_RGD_ID:6482255
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:3275	thymoma		ISO	RGD:1316107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:3652	Leigh disease		ISO	RGD:1316107	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.M292T (human)	PMID:20819849|REF_RGD_ID:6482269
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316107	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316107	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:630	genetic disease		ISO	RGD:1316107	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29272804|PMID:29353736|PMID:31180159|PMID:32180488
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1316107	D	RGD:9068941	20200609	RGD		mitochondrial complex I deficiency, OMIM:252010, DNA:point mutation:exon:R228Q	PMID:11220739|REF_RGD_ID:1600573
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:705	Leber hereditary optic neuropathy		ISO	RGD:1316107	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leber optic atrophy	PMID:25741868
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:890	mitochondrial encephalomyopathy		ISO	RGD:1316107	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14729820
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:9000200	Leber Hereditary Optic Neuropathy, Autosomal Recessive  2		ISO	RGD:1316107	D	RGD:7240710	20231115	OMIM			
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:9000200	Leber Hereditary Optic Neuropathy, Autosomal Recessive  2		ISO	RGD:1316107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive 2 | ClinVar Annotator: match by term: NDUFS2-related condition	PMID:20818383|PMID:25741868|PMID:28031252|PMID:28050010|PMID:28492532
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1307109	D	RGD:9068941	20200609	RGD		protein:decreased expression:dorsal root ganglia (rat)	PMID:20876714|REF_RGD_ID:6484699
8706442	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8706460	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8706460	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8706460	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8706460	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8706460	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:1115	sarcoma		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8706460	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:1324	lung cancer		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8706460	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8706460	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1354069	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25774636
8706460	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:3070	high grade glioma		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8706460	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:3275	thymoma		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8706460	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8706460	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8706460	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1354069	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8706460	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706460	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8706460	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1354069	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8706460	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: Hepatoma	
8706460	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8706460	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8706460	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8706460	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8706504	Tmem248	transmembrane protein 248	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8706504	Tmem248	transmembrane protein 248	gene	DOID:10534	stomach cancer		ISO	RGD:1602880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8706504	Tmem248	transmembrane protein 248	gene	DOID:1909	melanoma		ISO	RGD:1602880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8706504	Tmem248	transmembrane protein 248	gene	DOID:4362	cervical cancer		ISO	RGD:1602880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8706504	Tmem248	transmembrane protein 248	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706504	Tmem248	transmembrane protein 248	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8706504	Tmem248	transmembrane protein 248	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8706521	Lrrc14	leucine rich repeat containing 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8706521	Lrrc14	leucine rich repeat containing 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:1115	sarcoma		ISO	RGD:1345557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:1909	melanoma		ISO	RGD:1345557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1595845	D	RGD:9068941	20200609	RGD			PMID:10700014|REF_RGD_ID:1357161
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1345557	D	RGD:9068941	20220707	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106762
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:3275	thymoma		ISO	RGD:1345557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1345557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345557	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1345557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1345557	D	RGD:9068941	20220707	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106762
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1345557	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1345557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8706553	Tial1	TIA1 cytotoxic granule associated RNA binding protein like 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1345557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8706591	Klf17	KLF transcription factor 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8706603	Pkn1	protein kinase N1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352784	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8706603	Pkn1	protein kinase N1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8706603	Pkn1	protein kinase N1	gene	DOID:10534	stomach cancer		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8706603	Pkn1	protein kinase N1	gene	DOID:1115	sarcoma		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8706603	Pkn1	protein kinase N1	gene	DOID:1324	lung cancer		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8706603	Pkn1	protein kinase N1	gene	DOID:1909	melanoma		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8706603	Pkn1	protein kinase N1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352784	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8706603	Pkn1	protein kinase N1	gene	DOID:3275	thymoma		ISO	RGD:1352784	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8706603	Pkn1	protein kinase N1	gene	DOID:4362	cervical cancer		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8706603	Pkn1	protein kinase N1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8706603	Pkn1	protein kinase N1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8706603	Pkn1	protein kinase N1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352784	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8706603	Pkn1	protein kinase N1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706603	Pkn1	protein kinase N1	gene	DOID:6039	uveal melanoma		ISO	RGD:1352784	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8706603	Pkn1	protein kinase N1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352784	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8706603	Pkn1	protein kinase N1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8706603	Pkn1	protein kinase N1	gene	DOID:9002514	Neointima	ameliorates	ISO	RGD:69308	D	RGD:9068941	20230413	RGD			PMID:22893700|REF_RGD_ID:243065233
8706603	Pkn1	protein kinase N1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352784	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8706603	Pkn1	protein kinase N1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8706603	Pkn1	protein kinase N1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8706603	Pkn1	protein kinase N1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8706603	Pkn1	protein kinase N1	gene	DOID:9256	colorectal cancer		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8706640	Hao2	hydroxyacid oxidase 2	gene	DOID:13580	cholestasis		ISO	RGD:1346012	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
8706640	Hao2	hydroxyacid oxidase 2	gene	DOID:1909	melanoma		ISO	RGD:1346012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8706640	Hao2	hydroxyacid oxidase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8706640	Hao2	hydroxyacid oxidase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8706640	Hao2	hydroxyacid oxidase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1346012	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980|PMID:25380136
8706640	Hao2	hydroxyacid oxidase 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1346012	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8706654	Ndel1	nudE neurodevelopment protein 1 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1352165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8706654	Ndel1	nudE neurodevelopment protein 1 like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8706654	Ndel1	nudE neurodevelopment protein 1 like 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8706654	Ndel1	nudE neurodevelopment protein 1 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8706654	Ndel1	nudE neurodevelopment protein 1 like 1	gene	DOID:5419	schizophrenia		ISO	RGD:1352165	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hipocampus,dorsolateral prefrontal cortex:	PMID:16510495|REF_RGD_ID:12790585
8706654	Ndel1	nudE neurodevelopment protein 1 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706654	Ndel1	nudE neurodevelopment protein 1 like 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1352165	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8706654	Ndel1	nudE neurodevelopment protein 1 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8706693	Plscr3	phospholipid scramblase 3	gene	DOID:1059	intellectual disability		ISO	RGD:1315960	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability syndrome	
8706693	Plscr3	phospholipid scramblase 3	gene	DOID:9970	obesity		ISO	RGD:1315961	D	RGD:9068941	20220825	MouseDO		OMIM:601665	
8706715	Tmem243	transmembrane protein 243	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8706715	Tmem243	transmembrane protein 243	gene	DOID:0060058	lymphoma		ISO	RGD:1349104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8706715	Tmem243	transmembrane protein 243	gene	DOID:10534	stomach cancer		ISO	RGD:1349104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8706715	Tmem243	transmembrane protein 243	gene	DOID:1115	sarcoma		ISO	RGD:1349104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8706715	Tmem243	transmembrane protein 243	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706723	Gmps	guanosine monophosphate synthase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8706723	Gmps	guanosine monophosphate synthase	gene	DOID:0081082	acute myelomonocytic leukemia		ISO	RGD:1320749	D	RGD:9068941	20200609	RGD		treatment-related acute type M4 myeloid leukemia; chromosomal translocation resulted in a fusion of MLL and GMPS genes	PMID:11110714|REF_RGD_ID:1598998
8706723	Gmps	guanosine monophosphate synthase	gene	DOID:10534	stomach cancer		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8706723	Gmps	guanosine monophosphate synthase	gene	DOID:1115	sarcoma		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8706723	Gmps	guanosine monophosphate synthase	gene	DOID:3275	thymoma		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8706723	Gmps	guanosine monophosphate synthase	gene	DOID:4362	cervical cancer		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8706723	Gmps	guanosine monophosphate synthase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8706723	Gmps	guanosine monophosphate synthase	gene	DOID:5041	esophageal cancer		ISO	RGD:1320749	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8706723	Gmps	guanosine monophosphate synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706723	Gmps	guanosine monophosphate synthase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8706723	Gmps	guanosine monophosphate synthase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8706723	Gmps	guanosine monophosphate synthase	gene	DOID:9003566	Mesothelioma		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8706723	Gmps	guanosine monophosphate synthase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1310063	D	RGD:9068941	20200609	RGD		protein:increased activity:liver (rat)	PMID:3043317|REF_RGD_ID:5135485
8706723	Gmps	guanosine monophosphate synthase	gene	DOID:9005715	Neoplasms, Second Primary		ISO	RGD:1320749	D	RGD:9068941	20200609	RGD		treatment-related acute type M4 myeloid leukemia; chromosomal translocation resulted in a fusion of MLL and GMPS genes	PMID:11110714|REF_RGD_ID:1598998
8706723	Gmps	guanosine monophosphate synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8706723	Gmps	guanosine monophosphate synthase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8706723	Gmps	guanosine monophosphate synthase	gene	DOID:9256	colorectal cancer		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:0051061	stroke		ISO	RGD:1313510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29531354
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:0060673	Peters anomaly		ISO	RGD:1313510	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis	PMID:26893459
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:0110381	retinitis pigmentosa 14		ISO	RGD:1313510	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 14	
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:0110403	retinitis pigmentosa 13		ISO	RGD:1313510	D	RGD:7240710	20180130	OMIM			
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:0110403	retinitis pigmentosa 13		ISO	RGD:1313510	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PRPF8-related condition | ClinVar Annotator: match by term: PRPF8-related disorder | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 13	PMID:11468273|PMID:11910553|PMID:12714658|PMID:16799052|PMID:17061239|PMID:18695108|PMID:22277662|PMID:23950152|PMID:24938718|PMID:25741868|PMID:28492532|PMID:28515276|PMID:31456290|PMID:32531858|PMID:33494148|PMID:33691693|PMID:33712029|PMID:33749171|PMID:34716235|PMID:35138024|PMID:36819107|PMID:37734845
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:10534	stomach cancer		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313510	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11468273|PMID:12714658|PMID:16799052|PMID:17576681|PMID:21378395|PMID:24938718|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:30718709|PMID:31725702|PMID:9536098
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313510	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11468273|PMID:12714658|PMID:16799052|PMID:17576681|PMID:21378395|PMID:24938718|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:30718709|PMID:31725702|PMID:32531858|PMID:34906470|PMID:36909829|PMID:9536098
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313510	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11468273|PMID:12714658|PMID:16799052|PMID:17576681|PMID:21378395|PMID:24938718|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:29847639|PMID:30718709|PMID:31213501|PMID:31456290|PMID:31725702|PMID:32531858|PMID:32581362|PMID:33090715|PMID:33494148|PMID:33712029|PMID:33749171|PMID:34716235|PMID:34758253|PMID:34906470|PMID:35138024|PMID:36909829|PMID:9536098
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11468273|PMID:12714658|PMID:16799052|PMID:17576681|PMID:21378395|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:29847639|PMID:30718709|PMID:31213501|PMID:31725702|PMID:32581362|PMID:33090715|PMID:34758253|PMID:34906470|PMID:36909829|PMID:9536098
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:1909	melanoma		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:3070	high grade glioma		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:3275	thymoma		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:4362	cervical cancer		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1313510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:5679	retinal disease		ISO	RGD:1313510	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:11468273|PMID:12714658|PMID:16799052|PMID:20232351|PMID:25741868|PMID:28492532|PMID:28515276|PMID:30360737
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:630	genetic disease		ISO	RGD:1313510	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Disorder | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19344873|PMID:27535533|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28798898|PMID:33157387|PMID:33598457|PMID:33781268|PMID:34321860
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:630	genetic disease		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19344873|PMID:27535533|PMID:28492532
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313510	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11468273|PMID:16799052|PMID:17061239|PMID:18695108|PMID:20232351|PMID:21378395|PMID:23950152|PMID:24938718|PMID:25741868|PMID:28076437|PMID:28492532|PMID:28515276|PMID:28559085|PMID:28707069|PMID:28761320|PMID:28798898|PMID:30029497|PMID:31087526|PMID:32531858|PMID:33157387|PMID:33576794|PMID:33598457|PMID:33781268|PMID:34321860|PMID:34906470|PMID:3646071|PMID:36819107
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:9002569	Overweight		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:25741868
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313510	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:22039234|PMID:25741868|PMID:29087248|PMID:35543142
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:9008582	Developmental Disease		ISO	RGD:1313510	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8706749	Prpf8	pre-mRNA processing factor 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8706812	Mest	mesoderm specific transcript	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8706812	Mest	mesoderm specific transcript	gene	DOID:0050476	Barth syndrome		ISO	RGD:1621604	D	RGD:9068941	20220825	MouseDO		OMIM:302060	
8706812	Mest	mesoderm specific transcript	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8706812	Mest	mesoderm specific transcript	gene	DOID:1324	lung cancer		ISO	RGD:1345318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8706812	Mest	mesoderm specific transcript	gene	DOID:3070	high grade glioma		ISO	RGD:1345318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8706812	Mest	mesoderm specific transcript	gene	DOID:3275	thymoma		ISO	RGD:1345318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8706812	Mest	mesoderm specific transcript	gene	DOID:4362	cervical cancer		ISO	RGD:1345318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8706812	Mest	mesoderm specific transcript	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8706812	Mest	mesoderm specific transcript	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8706812	Mest	mesoderm specific transcript	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706812	Mest	mesoderm specific transcript	gene	DOID:9004657	Weight Gain		ISO	RGD:1345318	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8706812	Mest	mesoderm specific transcript	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8706812	Mest	mesoderm specific transcript	gene	DOID:9007491	Childhood Schizophrenia		ISO	RGD:1345318	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Childhood Onset Schizophrenia	PMID:26508570
8706812	Mest	mesoderm specific transcript	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8706848	Cct4	chaperonin containing TCP1 subunit 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8706848	Cct4	chaperonin containing TCP1 subunit 4	gene	DOID:0050548	hereditary sensory and autonomic neuropathy		ISO	RGD:727937	D	RGD:9068941	20200609	RGD			PMID:12874111|REF_RGD_ID:1299607
8706848	Cct4	chaperonin containing TCP1 subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8706848	Cct4	chaperonin containing TCP1 subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1345648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8706848	Cct4	chaperonin containing TCP1 subunit 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8706848	Cct4	chaperonin containing TCP1 subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1345648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8706848	Cct4	chaperonin containing TCP1 subunit 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8706848	Cct4	chaperonin containing TCP1 subunit 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8706848	Cct4	chaperonin containing TCP1 subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706848	Cct4	chaperonin containing TCP1 subunit 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8706848	Cct4	chaperonin containing TCP1 subunit 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8706848	Cct4	chaperonin containing TCP1 subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8706876	Tmem278	transmembrane protein 278	gene	DOID:10534	stomach cancer		ISO	RGD:2802463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8706876	Tmem278	transmembrane protein 278	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2802463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706882	Mospd1	motile sperm domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8706882	Mospd1	motile sperm domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8706882	Mospd1	motile sperm domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1347086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8706882	Mospd1	motile sperm domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706882	Mospd1	motile sperm domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:33125268
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:0060249	scoliosis		ISO	RGD:1317303	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:33125268
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:19648921|PMID:24035636|PMID:25741868
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:0070137	autosomal recessive cutis laxa type IIB		ISO	RGD:1317303	D	RGD:7240710	20180130	OMIM			
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:0070137	autosomal recessive cutis laxa type IIB		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive cutis laxa type 2B | ClinVar Annotator: match by term: CUTIS LAXA WITH PROGEROID FEATURES | ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type IIB	PMID:19576563|PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:25741869|PMID:25865492|PMID:26516448|PMID:28194412|PMID:28294978|PMID:28454995|PMID:28492532|PMID:28499588|PMID:30450527|PMID:31108370|PMID:33125268|PMID:35599849
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:0070138	autosomal recessive cutis laxa type IIIB		ISO	RGD:1317303	D	RGD:7240710	20180130	OMIM			
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:0070138	autosomal recessive cutis laxa type IIIB		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB | ClinVar Annotator: match by term: DE BARSY SYNDROME B | ClinVar Annotator: match by term: PYCR1-related condition	PMID:16199547|PMID:17576681|PMID:19648921|PMID:21567914|PMID:21834030|PMID:23406396|PMID:23963297|PMID:24035636|PMID:25741868|PMID:25865492|PMID:28194412|PMID:28294978|PMID:28454995|PMID:28492532|PMID:30450527|PMID:9536098
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1317303	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:0081333	Wiedemann-Rautenstrauch syndrome		ISO	RGD:1317303	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome	PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:25865492|PMID:28194412|PMID:28492532|PMID:30450527
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:33125268
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:10608	celiac disease		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Celiac disease	PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:33125268
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:10907	microcephaly		ISO	RGD:1317303	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:19648921|PMID:21739576|PMID:21834030|PMID:23963297|PMID:24035636|PMID:24913064|PMID:25741868|PMID:25865492|PMID:28194412|PMID:28492532|PMID:30450527
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:11782	astigmatism		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:33125268
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:11830	myopia		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:1324	lung cancer		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:33125268
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:14766	renal agenesis		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal agenesis	PMID:19648921|PMID:25741868
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:1596	depressive disorder		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:1826	epilepsy		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:33125268
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:3144	cutis laxa		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:16233902|PMID:19576563|PMID:19648921|PMID:21739576|PMID:21834030|PMID:23963297|PMID:24035636|PMID:24913064|PMID:25741868|PMID:25741869|PMID:25865492|PMID:26516448|PMID:28194412|PMID:28294978|PMID:28492532|PMID:30138938|PMID:30450527|PMID:33125268
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:3911	progeria		ISO	RGD:1317303	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19648921
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:540	strabismus		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30450527
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:630	genetic disease		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16233902|PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:30138938|PMID:33125268
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:6364	migraine		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:33125268
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9000053	Headache		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Headache	PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:33125268
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:19648921|PMID:24035636|PMID:25741868
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317303	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:33125268
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intrauterine growth retardation	PMID:23531708|PMID:24035636|PMID:25741868
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30450527
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9004014	Adducted Thumbs Syndrome		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumbs, congenital Clasped	PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30450527
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30450527
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip dislocation	PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30450527
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317303	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19648921|PMID:23963297|PMID:24035636|PMID:25741868|PMID:25865492|PMID:28194412|PMID:28492532|PMID:30450527
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:19648921|PMID:24035636|PMID:25741868
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9834	hyperopia		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
8706896	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9970	obesity		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
8706913	Ube2v2	ubiquitin conjugating enzyme E2 V2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8706913	Ube2v2	ubiquitin conjugating enzyme E2 V2	gene	DOID:3275	thymoma		ISO	RGD:1318163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8706913	Ube2v2	ubiquitin conjugating enzyme E2 V2	gene	DOID:4362	cervical cancer		ISO	RGD:1318163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8706913	Ube2v2	ubiquitin conjugating enzyme E2 V2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8706913	Ube2v2	ubiquitin conjugating enzyme E2 V2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706913	Ube2v2	ubiquitin conjugating enzyme E2 V2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8706926	Creg1	cellular repressor of E1A stimulated genes 1	gene	DOID:0080600	COVID-19		ISO	RGD:1348156	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8706926	Creg1	cellular repressor of E1A stimulated genes 1	gene	DOID:1115	sarcoma		ISO	RGD:1348156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8706926	Creg1	cellular repressor of E1A stimulated genes 1	gene	DOID:1324	lung cancer		ISO	RGD:1348156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8706926	Creg1	cellular repressor of E1A stimulated genes 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348156	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8706926	Creg1	cellular repressor of E1A stimulated genes 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8706926	Creg1	cellular repressor of E1A stimulated genes 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1348156	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8706926	Creg1	cellular repressor of E1A stimulated genes 1	gene	DOID:9775	diastolic heart failure		ISO	RGD:1348156	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
8706936	Apod	apolipoprotein D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8706936	Apod	apolipoprotein D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8706936	Apod	apolipoprotein D	gene	DOID:0051061	stroke		ISO	RGD:2137	D	RGD:9068941	20200609	RGD			PMID:17851453|REF_RGD_ID:2311182
8706936	Apod	apolipoprotein D	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737460	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid, hippocampus	PMID:9751198|REF_RGD_ID:2311209
8706936	Apod	apolipoprotein D	gene	DOID:11714	gestational diabetes		ISO	RGD:737460	D	RGD:9068941	20200609	RGD			PMID:6828336|REF_RGD_ID:2311180
8706936	Apod	apolipoprotein D	gene	DOID:1289	neurodegenerative disease		ISO	RGD:737460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18458334
8706936	Apod	apolipoprotein D	gene	DOID:1824	status epilepticus		ISO	RGD:2137	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus	PMID:10372566|REF_RGD_ID:2311203
8706936	Apod	apolipoprotein D	gene	DOID:3070	high grade glioma		ISO	RGD:737460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8706936	Apod	apolipoprotein D	gene	DOID:4762	vasculogenic impotence		ISO	RGD:2137	D	RGD:9068941	20200609	RGD		mRNA:increased expression:penis erectile tissue	PMID:11444882|REF_RGD_ID:2311196
8706936	Apod	apolipoprotein D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8706936	Apod	apolipoprotein D	gene	DOID:8927	learning disability		ISO	RGD:737460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18419796
8706936	Apod	apolipoprotein D	gene	DOID:9000831	Hypokinesia		ISO	RGD:737460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21688324
8706936	Apod	apolipoprotein D	gene	DOID:9000998	Brain Injuries		ISO	RGD:2137	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:cerebral cortex, glia cell, neuron	PMID:10501208|REF_RGD_ID:2311202
8706936	Apod	apolipoprotein D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8706936	Apod	apolipoprotein D	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737460	D	RGD:9068941	20200609	RGD			PMID:15369805|REF_RGD_ID:2311177
8706936	Apod	apolipoprotein D	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737460	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:7895459|REF_RGD_ID:2311178
8706936	Apod	apolipoprotein D	gene	DOID:9970	obesity		ISO	RGD:737460	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:7913935|REF_RGD_ID:2311179
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605037	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:1324	lung cancer		ISO	RGD:1605037	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:1909	melanoma		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1605037	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:28492532
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:3275	thymoma		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605037	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:4621	holoprosencephaly		ISO	RGD:1619812	D	RGD:9068941	20220825	MouseDO			
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605037	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:630	genetic disease		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17711852|PMID:25741868|PMID:26050939|PMID:27848944|PMID:28492532|PMID:39655768
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9002189	High Myopia		ISO	RGD:1605037	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605037	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9005335	Cerebral Visual Impairment and Intellectual Disability		ISO	RGD:1605037	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability	PMID:25804403|PMID:26350515
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9006299	autosomal recessive intellectual developmental disorder 42		ISO	RGD:1605037	D	RGD:7240710	20180130	OMIM			
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9006299	autosomal recessive intellectual developmental disorder 42		ISO	RGD:1605037	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mental retardation, autosomal recessive 42 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities | ClinVar Annotator: match by term: PGAP1-related condition	PMID:17711852|PMID:25741868|PMID:25804403|PMID:25823418|PMID:26350515|PMID:28492532
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605037	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605037	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8706948	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9993	hypoglycemia		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
8706978	Sfrp4	secreted frizzled related protein 4	gene	DOID:0080019	metaphyseal dysplasia		ISO	RGD:1350997	D	RGD:7240710	20190315	OMIM			
8706978	Sfrp4	secreted frizzled related protein 4	gene	DOID:0080019	metaphyseal dysplasia		ISO	RGD:1350997	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: PYLE DISEASE | ClinVar Annotator: match by term: Pyle metaphyseal dysplasia | ClinVar Annotator: match by term: SFRP4-related condition	PMID:25741868|PMID:27355534|PMID:28492532|PMID:33193738
8706978	Sfrp4	secreted frizzled related protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1350997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8706978	Sfrp4	secreted frizzled related protein 4	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1350997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868|PMID:33193738
8706978	Sfrp4	secreted frizzled related protein 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8706978	Sfrp4	secreted frizzled related protein 4	gene	DOID:5119	ovarian cyst		ISO	RGD:1350997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
8706978	Sfrp4	secreted frizzled related protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8706978	Sfrp4	secreted frizzled related protein 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8706978	Sfrp4	secreted frizzled related protein 4	gene	DOID:630	genetic disease		ISO	RGD:1350997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8706978	Sfrp4	secreted frizzled related protein 4	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1350997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25194984
8706978	Sfrp4	secreted frizzled related protein 4	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:621075	D	RGD:9068941	20200609	RGD			PMID:20528676|REF_RGD_ID:4107721
8706978	Sfrp4	secreted frizzled related protein 4	gene	DOID:9008214	Genu Valgum		ISO	RGD:1350997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:25741868|PMID:33193738
8706978	Sfrp4	secreted frizzled related protein 4	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1350997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17923031
8706978	Sfrp4	secreted frizzled related protein 4	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1350997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23140642
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:17873119|PMID:23335809|PMID:26681312|PMID:28492532|PMID:28677221|PMID:35101336|PMID:9259288
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0050489	multinodular goiter		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multinodular goiter	PMID:14711368|PMID:17213812|PMID:23335809|PMID:25263454|PMID:25429968|PMID:25741868|PMID:25875300|PMID:28492532|PMID:29706350|PMID:29785012|PMID:31130284|PMID:33208383|PMID:35101336
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0050562	West syndrome		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:16704655|PMID:19457929|PMID:20926450|PMID:21956414|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:27514801|PMID:27993330|PMID:28492532|PMID:28523199|PMID:28912153|PMID:28966033|PMID:29296277|PMID:29706350|PMID:29785012|PMID:32003824|PMID:35195909|PMID:9288766|PMID:9600246
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0050567	orofacial cleft		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0050581	brachydactyly		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0050657	Cowden syndrome 1		ISO	RGD:69119	D	RGD:7240710	20251022	OMIM			
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0050657	Cowden syndrome 1		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: COWDEN SYNDROME 1 | ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: LHERMITTE-DUCLOS DISEASE | ClinVar Annotator: match by term: PTEN Hamartoma Tumor Syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome	PMID:10051160|PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400703|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:10959096|PMID:1097835|PMID:11035045|PMID:11051241|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11332402|PMID:11395408|PMID:1147684|PMID:11476841|PMID:11494117|PMID:11685670|PMID:11748304|PMID:11886535|PMID:11918710|PMID:11948419|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14566704|PMID:14569134|PMID:14675182|PMID:14711368|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15355975|PMID:15372512|PMID:15492994|PMID:15659546|PMID:15805158|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16199547|PMID:16287957|PMID:16506206|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16829519|PMID:16894538|PMID:16952599|PMID:17043057|PMID:17213812|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17444818|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18456716|PMID:18558293|PMID:18594467|PMID:18626099|PMID:18669439|PMID:18757403|PMID:18759867|PMID:18781191|PMID:18781614|PMID:18794875|PMID:18986487|PMID:19190598|PMID:19265751|PMID:19329485|PMID:19340001|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19719509|PMID:19763152|PMID:19829307|PMID:19956187|PMID:19968660|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20301661|PMID:20307669|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20848651|PMID:20926450|PMID:20962022|PMID:21103832|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21406108|PMID:21417916|PMID:21454687|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22252256|PMID:22261759|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22381246|PMID:22382802|PMID:22406018|PMID:22413754|PMID:22469695|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22595938|PMID:22628360|PMID:22713753|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:2333580|PMID:23335809|PMID:23349303|PMID:23361946|PMID:23399955|PMID:23419777|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23633456|PMID:23695273|PMID:23744781|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:23949151|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24436047|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24641667|PMID:24647592|PMID:24721394|PMID:24728327|PMID:24763289|PMID:24766807|PMID:24768297|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25132236|PMID:25186627|PMID:25219808|PMID:25246819|PMID:25263454|PMID:25288137|PMID:25336918|PMID:25363760|PMID:25418537|PMID:25428789|PMID:25429968|PMID:25448478|PMID:25448479|PMID:25448482|PMID:25504433|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25616216|PMID:25637381|PMID:25640679|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25873899|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25946202|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26124082|PMID:26138366|PMID:26246517|PMID:26279303|PMID:26302789|PMID:26350204|PMID:26415504|PMID:26418532|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26612463|PMID:26633542|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26800850|PMID:26845104|PMID:26898890|PMID:27087592|PMID:27147599
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0050657	Cowden syndrome 1		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: COWDEN SYNDROME 1 | ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: LHERMITTE-DUCLOS DISEASE | ClinVar Annotator: match by term: PTEN Hamartoma Tumor Syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome	PMID:27157322|PMID:27221918|PMID:27226612|PMID:27405757|PMID:27426521|PMID:27477328|PMID:27481051|PMID:27506944|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27819275|PMID:27824329|PMID:27860216|PMID:27876779|PMID:27978560|PMID:27993330|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28251007|PMID:28263967|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28620008|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28726821|PMID:28741261|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28912153|PMID:28966033|PMID:29043291|PMID:29095814|PMID:29108454|PMID:29117568|PMID:29152901|PMID:29263802|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29373119|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29617666|PMID:29625052|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29720545|PMID:29752200|PMID:29763623|PMID:29785012|PMID:29805648|PMID:29931205|PMID:29970488|PMID:29987362|PMID:30212483|PMID:30212499|PMID:30287823|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30544257|PMID:30614812|PMID:30617281|PMID:30659124|PMID:30680046|PMID:30763456|PMID:30809968|PMID:30886105|PMID:30952542|PMID:30978501|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31130284|PMID:31149344|PMID:31185301|PMID:31199785|PMID:31232187|PMID:31332282|PMID:31336731|PMID:31427284|PMID:31433956|PMID:31447099|PMID:31567591|PMID:31594918|PMID:31636093|PMID:31664961|PMID:31674007|PMID:31694722|PMID:31970404|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32157856|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32238909|PMID:32249768|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461083|PMID:32461654|PMID:32471850|PMID:32506314|PMID:32610572|PMID:32670512|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32959437|PMID:33057194|PMID:33077954|PMID:33083010|PMID:33208383|PMID:33471991|PMID:33600059|PMID:33723755|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:33911214|PMID:34026625|PMID:34184188|PMID:34374989|PMID:34386506|PMID:34492006|PMID:34625746|PMID:34649609|PMID:34793697|PMID:34906515|PMID:34937768|PMID:34958143|PMID:35101336|PMID:35102303|PMID:35106660|PMID:35172517|PMID:35195909|PMID:35227301|PMID:35241692|PMID:35264596|PMID:35305867|PMID:35534704|PMID:35603900|PMID:35640862|PMID:35723418|PMID:35931053|PMID:35971940|PMID:35980532|PMID:35982159|PMID:36066546|PMID:36175890|PMID:36270489|PMID:36413997|PMID:36451132|PMID:36453251|PMID:36619507|PMID:36681873|PMID:36833222|PMID:36959127|PMID:36988593|PMID:37035742|PMID:37093598|PMID:37307869|PMID:37398799|PMID:37527256|PMID:37692099|PMID:37819013|PMID:38311546|PMID:38311565|PMID:38335860|PMID:38546160|PMID:38645101|PMID:39301391|PMID:39358013|PMID:39402389|PMID:39434542|PMID:39694930|PMID:39825153|PMID:40282429|PMID:60212|PMID:8071972|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9785012|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0050657	Cowden syndrome 1	susceptibility	ISO	RGD:69119	D	RGD:9068941	20251023	RGD		DNA:missense mutation, nonsense mutations:cds:p.G129E, p.E157X, p.R233X (human)	PMID:9140396|REF_RGD_ID:12802361
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:61995	D	RGD:9068941	20200609	RGD		Protein:increased expression, increased activity:cerebellum (rat)	PMID:12700235|REF_RGD_ID:12801493
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0050700	cardiomyopathy		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:10866302|PMID:17526800|PMID:18626099|PMID:18986487|PMID:19265751|PMID:20533527|PMID:21828076|PMID:23335809|PMID:23633456|PMID:24033266|PMID:24721394|PMID:25669429|PMID:25741868|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29706350|PMID:32350270|PMID:35101336|PMID:37307869|PMID:9619835
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diffuse large B cell lymphoma	PMID:17526800|PMID:21194675|PMID:21956414|PMID:25741868|PMID:28492532|PMID:9467011
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:69119	D	RGD:9068941	20210625	RGD		protein:increased expression:oral epithelium (human)	PMID:33109573|REF_RGD_ID:127285606
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0050868	hepatocellular adenoma		ISO	RGD:62287	D	RGD:9068941	20200609	RGD			PMID:15199412|REF_RGD_ID:1302555
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0050868	hepatocellular adenoma		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27022031
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0050933	ovarian serous carcinoma	exacerbates	ISO	RGD:69119	D	RGD:9068941	20210625	RGD		protein:increased expression:ovary, peritoneum (human)	PMID:26166715|REF_RGD_ID:11532228
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:69119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:10866302|PMID:11886535|PMID:17526800|PMID:18626099|PMID:18986487|PMID:19265751|PMID:20533527|PMID:21828076|PMID:23335809|PMID:23633456|PMID:24033266|PMID:24721394|PMID:25669429|PMID:25741868|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29706350|PMID:30763456|PMID:32350270|PMID:35101336|PMID:37307869|PMID:9619835
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0060058	lymphoma		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:26845104
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0060249	scoliosis		ISO	RGD:69119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:28526761
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0060669	cerebral cavernous malformation		ISO	RGD:69119	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain (human)	PMID:19061355|REF_RGD_ID:12859036
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0060867	macrocephaly-autism syndrome		ISO	RGD:69119	D	RGD:7240710	20251022	OMIM			
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0060867	macrocephaly-autism syndrome		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MACROCEPHALY/AUTISM SYNDROME | ClinVar Annotator: match by term: Macrocephaly-autism syndrome | ClinVar Annotator: match by term: Macrocephaly/autism syndrome	PMID:10076877|PMID:10234502|PMID:10400993|PMID:10468583|PMID:10606430|PMID:10698513|PMID:10866302|PMID:10866658|PMID:11035045|PMID:11051241|PMID:11071384|PMID:11156408|PMID:11332402|PMID:11918710|PMID:12085208|PMID:12297295|PMID:12844284|PMID:14566704|PMID:15492994|PMID:15805158|PMID:16014636|PMID:16199547|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17873119|PMID:17873882|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18498243|PMID:19340001|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19829307|PMID:20301661|PMID:20600018|PMID:20712882|PMID:20926450|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21659347|PMID:21798997|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22252256|PMID:22261759|PMID:22491738|PMID:22595938|PMID:22748663|PMID:22970944|PMID:23160955|PMID:23161105|PMID:23335809|PMID:23349303|PMID:23442912|PMID:23934111|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24136893|PMID:24292679|PMID:24375884|PMID:24468202|PMID:24561254|PMID:24656806|PMID:24728327|PMID:24778394|PMID:24809327|PMID:25132236|PMID:25186627|PMID:25288137|PMID:25326637|PMID:25525159|PMID:25527629|PMID:25637381|PMID:25642631|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25937288|PMID:25980754|PMID:26124082|PMID:26246517|PMID:26467025|PMID:26579216|PMID:26580448|PMID:26612463|PMID:26633542|PMID:26633545|PMID:26681312|PMID:26773036|PMID:26800850|PMID:26898890|PMID:27066848|PMID:27221918|PMID:27405757|PMID:27477328|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27993330|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28250423|PMID:28251007|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28481359|PMID:28492532|PMID:28677221|PMID:28724667|PMID:28726821|PMID:28755079|PMID:28912153|PMID:28966033|PMID:29273943|PMID:29373119|PMID:29389947|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29752200|PMID:29758562|PMID:29763623|PMID:29785012|PMID:29970488|PMID:30287823|PMID:30311380|PMID:30544257|PMID:30680046|PMID:30763456|PMID:30872465|PMID:30978501|PMID:31006514|PMID:31332282|PMID:31336731|PMID:31567591|PMID:31674007|PMID:32150788|PMID:32350270|PMID:32366478|PMID:32376656|PMID:32442409|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33471991|PMID:33681822|PMID:33887726|PMID:34793697|PMID:35101336|PMID:35227301|PMID:35264596|PMID:35534704|PMID:35640862|PMID:35931053|PMID:35980532|PMID:36270489|PMID:36833222|PMID:36988593|PMID:38311546|PMID:38645101|PMID:39301391|PMID:39358013|PMID:39402389|PMID:39434542|PMID:9259288|PMID:9467011|PMID:9536098|PMID:9600246|PMID:9832032
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0070678	congenital hypomyelinating neuropathy		ISO	RGD:12181883	D	RGD:9068941	20230921	OMIA		Colorectal hamartomatous polyposis and ganglioneuromatosis	PMID:20952721|PMID:37708475
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0080072	intestinal pseudo-obstruction		ISO	RGD:62287	D	RGD:9068941	20220825	MouseDO			
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0080191	PTEN hamartoma tumor syndrome		ISO	RGD:69119	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome	PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11684570|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11918710|PMID:11939587|PMID:11948419|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16287957|PMID:16506206|PMID:16598737|PMID:16685657|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17167516|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18456716|PMID:18510548|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19622968|PMID:19719509|PMID:19763152|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20307669|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20848651|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21869887|PMID:21926107|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22252256|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22382802|PMID:22406018|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22713753|PMID:22962422|PMID:22993021|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23132533|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23331837|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23613428|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24641667|PMID:24647592|PMID:24656772|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25418537|PMID:25429968|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25616216|PMID:25640679|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25873899|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26443266|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0080191	PTEN hamartoma tumor syndrome		ISO	RGD:69119	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome	PMID:26579216|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26681312|PMID:26757417|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27506944|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27819275|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29048666|PMID:29095814|PMID:29117568|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29510612|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30311381|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30793491|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31199785|PMID:31209962|PMID:31336731|PMID:31594918|PMID:31674007|PMID:32037394|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32442409|PMID:32461654|PMID:32566746|PMID:33077954|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:33876391|PMID:7728760|PMID:8071972|PMID:8673088|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9286463|PMID:9288766|PMID:9326929|PMID:9371490|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26023714
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0080365	endometrial hyperplasia		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16402032
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0080636	syndromic microphthalmia		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Syndromic microphthalmia	PMID:25741868|PMID:39358013
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27M-mutant	PMID:24705250|PMID:24705252|PMID:24705254|PMID:27993330|PMID:28792659|PMID:28966033|PMID:29706350|PMID:29763623|PMID:32150788|PMID:32555164
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0080708	medulloblastoma non-WNT/non-SHH group 4		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 4	PMID:10866302|PMID:11156408|PMID:19457929|PMID:20926450|PMID:21956414|PMID:24778394|PMID:25288137|PMID:25669429|PMID:25722288|PMID:25741868|PMID:26246517|PMID:27993330|PMID:28492532|PMID:28726821|PMID:29663862|PMID:29706350|PMID:29785012|PMID:29970488|PMID:31006514|PMID:9467011|PMID:9600246
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0080855	Parkinsonism		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0080880	diffuse glioma, H3 G34 mutant		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diffuse glioma, H3 G34 mutant	PMID:16704655|PMID:19457929|PMID:20926450|PMID:21956414|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:27514801|PMID:27993330|PMID:28492532|PMID:28523199|PMID:28912153|PMID:28966033|PMID:29296277|PMID:29706350|PMID:29785012|PMID:32003824|PMID:35195909|PMID:9288766|PMID:9600246
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0081000	Cowden syndrome 4		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cowden syndrome 4	PMID:10555148|PMID:21828076|PMID:26418532|PMID:28492532|PMID:29706350|PMID:37398799
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:17213812|PMID:25219808|PMID:27993330|PMID:28912153|PMID:28966033|PMID:29706350|PMID:29763623|PMID:29785012|PMID:34649609
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0110334	osteogenesis imperfecta type 1		ISO	RGD:69119	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta	PMID:10866302|PMID:17526800|PMID:17526801|PMID:21194675|PMID:22628360|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:25944380|PMID:26467025|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181|PMID:35931053
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:0111766	X-linked VACTERL association		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: VACTERL-H	PMID:11071384|PMID:15492994|PMID:17873119|PMID:24033266|PMID:24055113|PMID:24468202|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26681312|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:31006514|PMID:32350270|PMID:32885271|PMID:33077954|PMID:33471991|PMID:34793697|PMID:35931053|PMID:38645101|PMID:9259288
8706988	Pten	phosphatase and tensin homolog	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:21194675|PMID:21659347|PMID:24375884|PMID:25669429|PMID:25741868|PMID:26633542|PMID:27531073|PMID:28492532|PMID:29273943|PMID:29608813|PMID:29706350|PMID:32350270|PMID:35227301
8706988	Pten	phosphatase and tensin homolog	gene	DOID:10041	dysplastic nevus syndrome		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: B-K MOLE SYNDROME	PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:31006514|PMID:32350270|PMID:32885271|PMID:33471991|PMID:34793697|PMID:35931053|PMID:38645101
8706988	Pten	phosphatase and tensin homolog	gene	DOID:10175	optic papillitis		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic papillitis	PMID:10866302|PMID:11156408|PMID:19457929|PMID:20926450|PMID:21956414|PMID:24778394|PMID:25288137|PMID:25669429|PMID:25722288|PMID:25741868|PMID:26246517|PMID:27993330|PMID:28492532|PMID:28726821|PMID:29663862|PMID:29706350|PMID:29785012|PMID:29970488|PMID:31006514|PMID:9467011|PMID:9600246
8706988	Pten	phosphatase and tensin homolog	gene	DOID:10283	prostate cancer		ISO	RGD:69119	D	RGD:7240710	20251022	OMIM			
8706988	Pten	phosphatase and tensin homolog	gene	DOID:10283	prostate cancer		ISO	RGD:69119	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer	PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:10866302|PMID:11684570|PMID:11685670|PMID:14518070|PMID:17392703|PMID:17526800|PMID:17526801|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:22628360|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25677497|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011
8706988	Pten	phosphatase and tensin homolog	gene	DOID:10283	prostate cancer		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer	PMID:10234502|PMID:10400993|PMID:10866302|PMID:11071384|PMID:11156408|PMID:11332402|PMID:15492994|PMID:16014636|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17873119|PMID:18080326|PMID:19457929|PMID:20926450|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21659347|PMID:21869887|PMID:21956414|PMID:23161105|PMID:23335809|PMID:24033266|PMID:24055113|PMID:24136893|PMID:24468202|PMID:24728327|PMID:24778394|PMID:25132236|PMID:25186627|PMID:25288137|PMID:25637381|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26246517|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26800850|PMID:26898890|PMID:27720647|PMID:27993330|PMID:28008555|PMID:28135145|PMID:28418444|PMID:28492532|PMID:28726821|PMID:29663862|PMID:29706350|PMID:29785012|PMID:29970488|PMID:30311380|PMID:31006514|PMID:31567591|PMID:32350270|PMID:32366478|PMID:32885271|PMID:33077954|PMID:33471991|PMID:33887726|PMID:34793697|PMID:35264596|PMID:35534704|PMID:35931053|PMID:35980532|PMID:38311546|PMID:38645101|PMID:39402389|PMID:9259288|PMID:9467011|PMID:9536098|PMID:9600246
8706988	Pten	phosphatase and tensin homolog	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:69119	D	RGD:9068941	20200609	RGD		DNA:deletion	PMID:17700571|REF_RGD_ID:2292502
8706988	Pten	phosphatase and tensin homolog	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:69119	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors (p<0.05 compared to at least one housekeeping gene)	PMID:18336616|REF_RGD_ID:2301729
8706988	Pten	phosphatase and tensin homolog	gene	DOID:10325	silicosis		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27621875
8706988	Pten	phosphatase and tensin homolog	gene	DOID:10534	stomach cancer		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:10076877|PMID:10400993|PMID:10555148|PMID:10866302|PMID:12844284|PMID:14566704|PMID:16199547|PMID:17324556|PMID:17526801|PMID:17942903|PMID:20194734|PMID:20685300|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22962422|PMID:23934111|PMID:24033266|PMID:24375884|PMID:25363760|PMID:25647146|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:27535533|PMID:27824329|PMID:28191890|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:31332282|PMID:32350270|PMID:32959437|PMID:36988593|PMID:9259288|PMID:9467011|PMID:9832031
8706988	Pten	phosphatase and tensin homolog	gene	DOID:10584	retinitis pigmentosa	onset	ISO	RGD:61995	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina (rat)	PMID:22432009|REF_RGD_ID:12802340
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1059	intellectual disability		ISO	RGD:69119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Mild intellectual disability	PMID:10555148|PMID:10866302|PMID:11332402|PMID:12372056|PMID:17526800|PMID:17526801|PMID:17576681|PMID:18080326|PMID:18626099|PMID:18986487|PMID:19265751|PMID:20533527|PMID:21194675|PMID:21291452|PMID:21659347|PMID:21828076|PMID:21956414|PMID:22628360|PMID:22703879|PMID:23335809|PMID:23442912|PMID:23555315|PMID:23633456|PMID:24033266|PMID:24721394|PMID:24763289|PMID:24778394|PMID:25157968|PMID:25219808|PMID:25263454|PMID:25448479|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26800850|PMID:27428751|PMID:27477328|PMID:27993330|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28912153|PMID:28966033|PMID:29371908|PMID:29533785|PMID:29706350|PMID:29720545|PMID:29763623|PMID:29874181|PMID:31144778|PMID:31159747|PMID:31209962|PMID:32350270|PMID:33471991|PMID:33911214|PMID:34268892|PMID:35101336|PMID:35305867|PMID:35931053|PMID:37307869|PMID:9536098|PMID:9619835
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1059	intellectual disability		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:10076877|PMID:10400993|PMID:10555148|PMID:10866302|PMID:11332402|PMID:12372056|PMID:12844284|PMID:14566704|PMID:17526800|PMID:17576681|PMID:17942903|PMID:18080326|PMID:18626099|PMID:18986487|PMID:19265751|PMID:20533527|PMID:21194675|PMID:21291452|PMID:21659347|PMID:21828076|PMID:21956414|PMID:22261759|PMID:22703879|PMID:23335809|PMID:23442912|PMID:23555315|PMID:23633456|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24721394|PMID:24763289|PMID:25263454|PMID:25448479|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26681312|PMID:26800850|PMID:27428751|PMID:27477328|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29371908|PMID:29706350|PMID:29720545|PMID:29785012|PMID:31144778|PMID:31159747|PMID:31209962|PMID:32350270|PMID:32959437|PMID:33471991|PMID:33911214|PMID:34268892|PMID:35101336|PMID:35305867|PMID:36988593|PMID:37307869|PMID:9536098|PMID:9619835
8706988	Pten	phosphatase and tensin homolog	gene	DOID:10608	celiac disease		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Celiac disease	PMID:11886535|PMID:23335809|PMID:28492532|PMID:28526761
8706988	Pten	phosphatase and tensin homolog	gene	DOID:10629	microphthalmia		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25741868
8706988	Pten	phosphatase and tensin homolog	gene	DOID:10762	portal hypertension		ISO	RGD:61995	D	RGD:9068941	20200609	RGD			PMID:14525948|REF_RGD_ID:1581280
8706988	Pten	phosphatase and tensin homolog	gene	DOID:10763	hypertension		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15646324
8706988	Pten	phosphatase and tensin homolog	gene	DOID:10907	microcephaly		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16704655|PMID:19457929|PMID:20926450|PMID:21956414|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:27514801|PMID:27993330|PMID:28492532|PMID:28523199|PMID:28912153|PMID:28966033|PMID:29296277|PMID:29706350|PMID:29785012|PMID:32003824|PMID:35195909|PMID:9288766|PMID:9600246
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:11886535|PMID:17873119|PMID:23335809|PMID:26681312|PMID:28492532|PMID:28526761|PMID:28677221|PMID:35101336|PMID:9259288
8706988	Pten	phosphatase and tensin homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:10866302|PMID:17576681|PMID:20712882|PMID:21194675|PMID:21659347|PMID:21828076|PMID:25741868|PMID:27477328|PMID:27535533|PMID:28492532|PMID:29706350|PMID:31079897|PMID:32442409|PMID:35227301|PMID:9256433|PMID:9536098|PMID:9811831
8706988	Pten	phosphatase and tensin homolog	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:69119	D	RGD:9068941	20200609	RGD		protein:decreased expression:urinary bladder	PMID:18190825|REF_RGD_ID:2291891
8706988	Pten	phosphatase and tensin homolog	gene	DOID:11132	prostatic hypertrophy		ISO	RGD:62287	D	RGD:9068941	20200609	RGD			PMID:11175795|REF_RGD_ID:1302553
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1115	sarcoma		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:17576681|PMID:28492532|PMID:9536098
8706988	Pten	phosphatase and tensin homolog	gene	DOID:11155	hypohidrosis		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:11162	respiratory failure		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:11166	Human papillomavirus infectious disease		ISO	RGD:69119	D	RGD:9068941	20210625	RGD		associated with head and neck squamous cell carcinoma;protein:increased expression:oropharynx (human)	PMID:28945300|REF_RGD_ID:127285601
8706988	Pten	phosphatase and tensin homolog	gene	DOID:11166	Human papillomavirus infectious disease		ISO	RGD:69119	D	RGD:9068941	20210625	RGD		associated with tonsil cancer;protein:increased expression:tonsil (human)	PMID:24616007|REF_RGD_ID:127285613
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1148	polydactyly		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17427195
8706988	Pten	phosphatase and tensin homolog	gene	DOID:11758	iron deficiency anemia		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iron deficiency anemia	PMID:21194675|PMID:21659347|PMID:24375884|PMID:25669429|PMID:25741868|PMID:26633542|PMID:27531073|PMID:28492532|PMID:29273943|PMID:29608813|PMID:29706350|PMID:32350270|PMID:35227301
8706988	Pten	phosphatase and tensin homolog	gene	DOID:11830	myopia		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:35227301
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1192	peripheral nervous system neoplasm		ISO	RGD:69119	D	RGD:9068941	20200609	RGD		associated with Neurofibromatosis 1;DNA:loss of heterozygosity:cds: (human)	PMID:19246520|REF_RGD_ID:12802354
8706988	Pten	phosphatase and tensin homolog	gene	DOID:12176	goiter		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:12270	coloboma		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:25741868
8706988	Pten	phosphatase and tensin homolog	gene	DOID:12273	anisometropia		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9286463
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1240	leukemia		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12970779
8706988	Pten	phosphatase and tensin homolog	gene	DOID:127	leiomyoma		ISO	RGD:69119	D	RGD:9068941	20200609	RGD		protein:decreased expression:myometrium	PMID:18000229|REF_RGD_ID:2292498
8706988	Pten	phosphatase and tensin homolog	gene	DOID:127	leiomyoma		ISO	RGD:69119	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:myometrium	PMID:17097286|REF_RGD_ID:2292508
8706988	Pten	phosphatase and tensin homolog	gene	DOID:12849	autistic disorder		ISO	RGD:69119	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome	PMID:16506206|PMID:16704655|PMID:19457929|PMID:21956414|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:26534844|PMID:27514801|PMID:28492532|PMID:28523199|PMID:29296277|PMID:9288766
8706988	Pten	phosphatase and tensin homolog	gene	DOID:12849	autistic disorder		ISO	RGD:69119	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Autism	PMID:16506206|PMID:16704655|PMID:17873882|PMID:19340001|PMID:19457929|PMID:19458356|PMID:20926450|PMID:21828076|PMID:21956414|PMID:22266152|PMID:22491738|PMID:22595938|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:26504226|PMID:26534844|PMID:26773036|PMID:27514801|PMID:28195393|PMID:28492532|PMID:28523199|PMID:29296277|PMID:29706350|PMID:29785012|PMID:30311380|PMID:32003824|PMID:34793697|PMID:35982159|PMID:36270489|PMID:37673932|PMID:38645101|PMID:9288766|PMID:9600246
8706988	Pten	phosphatase and tensin homolog	gene	DOID:12849	autistic disorder		ISO	RGD:69119	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder	PMID:16506206|PMID:16704655|PMID:17873882|PMID:19340001|PMID:19457929|PMID:19458356|PMID:20926450|PMID:21828076|PMID:21956414|PMID:22266152|PMID:22491738|PMID:22595938|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:26504226|PMID:26534844|PMID:26773036|PMID:27514801|PMID:28195393|PMID:28492532|PMID:28523199|PMID:29296277|PMID:29706350|PMID:29785012|PMID:30311380|PMID:32003824|PMID:34793697|PMID:35982159|PMID:36270489|PMID:37673932|PMID:38335860|PMID:38645101|PMID:9288766|PMID:9600246
8706988	Pten	phosphatase and tensin homolog	gene	DOID:12849	autistic disorder		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3 | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:10848731|PMID:10866302|PMID:10923032|PMID:11332402|PMID:11875759|PMID:11918710|PMID:16506206|PMID:16773562|PMID:17286265|PMID:17526800|PMID:17873119|PMID:17873882|PMID:17942903|PMID:18626099|PMID:18986487|PMID:19265751|PMID:19340001|PMID:19457929|PMID:19458356|PMID:20300775|PMID:20301661|PMID:20533527|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21956414|PMID:22252256|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22381246|PMID:22491738|PMID:22595938|PMID:23335809|PMID:23399955|PMID:23470840|PMID:23633456|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24345843|PMID:24375884|PMID:24436047|PMID:24721394|PMID:24766807|PMID:25669429|PMID:25741868|PMID:26138366|PMID:26467025|PMID:26504226|PMID:26534844|PMID:26633542|PMID:26681312|PMID:26773036|PMID:26798346|PMID:27477328|PMID:27531073|PMID:27993330|PMID:28195393|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:29273943|PMID:29359449|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29706350|PMID:29785012|PMID:30311380|PMID:30614812|PMID:30617281|PMID:30659124|PMID:32350270|PMID:32442409|PMID:32610572|PMID:33077954|PMID:33083010|PMID:33372952|PMID:34793697|PMID:35101336|PMID:35227301|PMID:35982159|PMID:36270489|PMID:36988593|PMID:37035742|PMID:37307869|PMID:38335860|PMID:38645101|PMID:39694930|PMID:9259288|PMID:9467011|PMID:9619835|PMID:9856571|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:12849	autistic disorder		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 17 | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 4 | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:10076877|PMID:10400993|PMID:10866302|PMID:12844284|PMID:14566704|PMID:16506206|PMID:16704655|PMID:17526800|PMID:17873119|PMID:17873882|PMID:17942903|PMID:18626099|PMID:18986487|PMID:19265751|PMID:19340001|PMID:19457929|PMID:19458356|PMID:20301661|PMID:20533527|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21956414|PMID:22252256|PMID:22261759|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22491738|PMID:22595938|PMID:23161105|PMID:23335809|PMID:23399955|PMID:23470840|PMID:23633456|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24436047|PMID:24721394|PMID:24728327|PMID:24766807|PMID:24778394|PMID:25186627|PMID:25669429|PMID:25741868|PMID:26138366|PMID:26246517|PMID:26467025|PMID:26504226|PMID:26534844|PMID:26580448|PMID:26633542|PMID:26681312|PMID:26773036|PMID:26800850|PMID:27477328|PMID:27514801|PMID:27531073|PMID:27720647|PMID:27993330|PMID:28135145|PMID:28195393|PMID:28475857|PMID:28492532|PMID:28523199|PMID:28526761|PMID:28677221|PMID:28912153|PMID:28966033|PMID:29273943|PMID:29296277|PMID:29608813|PMID:29706350|PMID:29785012|PMID:30311380|PMID:30617281|PMID:32003824|PMID:32350270|PMID:32442409|PMID:32959437|PMID:33077954|PMID:33887726|PMID:34793697|PMID:35101336|PMID:35195909|PMID:35227301|PMID:35264596|PMID:35534704|PMID:35980532|PMID:35982159|PMID:36270489|PMID:36988593|PMID:37035742|PMID:37307869|PMID:38311546|PMID:38335860|PMID:38645101|PMID:39402389|PMID:39694930|PMID:9259288|PMID:9288766|PMID:9467011|PMID:9600246|PMID:9619835|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:13042	persistent fetal circulation syndrome		ISO	RGD:62287	D	RGD:9068941	20220825	MouseDO		OMIM:265380	
8706988	Pten	phosphatase and tensin homolog	gene	DOID:13482	Proteus syndrome		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Proteus syndrome | ClinVar Annotator: match by term: Proteus-like syndrome	PMID:12471211|PMID:21828076|PMID:22266152|PMID:22595938|PMID:25741868|PMID:26504226|PMID:27535533|PMID:28195393|PMID:28492532|PMID:29706350
8706988	Pten	phosphatase and tensin homolog	gene	DOID:13580	cholestasis		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:25741868
8706988	Pten	phosphatase and tensin homolog	gene	DOID:13608	biliary atresia		ISO	RGD:69119	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (human)	PMID:25487473|REF_RGD_ID:12832754
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1380	endometrial cancer		ISO	RGD:62287	D	RGD:9068941	20220825	MouseDO		OMIM:608089	
8706988	Pten	phosphatase and tensin homolog	gene	DOID:14291	Noonan syndrome with multiple lentigines		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11685670
8706988	Pten	phosphatase and tensin homolog	gene	DOID:14447	gonadal dysgenesis		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gonadal dysgenesis	PMID:25741868
8706988	Pten	phosphatase and tensin homolog	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:10232405|PMID:10234502|PMID:10400703|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10772829|PMID:10866302|PMID:10923032|PMID:11051241|PMID:11156408|PMID:1147684|PMID:11476841|PMID:11948419|PMID:12938083|PMID:14711368|PMID:16199547|PMID:16619501|PMID:17213812|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17873119|PMID:17942903|PMID:18594467|PMID:18626099|PMID:18781614|PMID:18986487|PMID:19265751|PMID:1945792|PMID:19457929|PMID:20533527|PMID:20600018|PMID:20712882|PMID:20926450|PMID:20962022|PMID:21194675|PMID:21822720|PMID:21828076|PMID:21956414|PMID:22327138|PMID:22503188|PMID:22595938|PMID:22970944|PMID:23161105|PMID:23335809|PMID:23399955|PMID:23470840|PMID:23633456|PMID:24033266|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24498881|PMID:24721394|PMID:24766807|PMID:24778394|PMID:25003235|PMID:25263454|PMID:25429968|PMID:25448479|PMID:25527629|PMID:25669429|PMID:25741868|PMID:25875300|PMID:26418532|PMID:26467025|PMID:26681312|PMID:26800850|PMID:27226612|PMID:27514801|PMID:27535533|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28677221|PMID:29108454|PMID:29533785|PMID:29663862|PMID:29706350|PMID:29720545|PMID:29785012|PMID:29931205|PMID:30311380|PMID:31130284|PMID:31199785|PMID:31336731|PMID:31636093|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461083|PMID:32461654|PMID:32610572|PMID:33208383|PMID:33471991|PMID:33723755|PMID:33911214|PMID:34386506|PMID:35101336|PMID:35102303|PMID:35227301|PMID:35305867|PMID:37307869|PMID:39358013|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9467011|PMID:9619835|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1459	hypothyroidism		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:16199547|PMID:19265751|PMID:21194675|PMID:21659347|PMID:24379037|PMID:28492532|PMID:28526761|PMID:9467011
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1470	major depressive disorder		ISO	RGD:69119	D	RGD:9068941	20210625	RGD		protein:increased expression:occipital cortex (human)	PMID:12969265|REF_RGD_ID:127285604
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1520	colon carcinoma		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colonic carcinoma	PMID:25741868|PMID:28492532
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1596	depressive disorder		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Depression	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1612	breast cancer		ISO	RGD:69119	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:11918710|PMID:14569134|PMID:14623110|PMID:16199547|PMID:16773562|PMID:17526801|PMID:20712882|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21869887|PMID:22558107|PMID:23315997|PMID:23399955|PMID:24033266|PMID:24136893|PMID:25132236|PMID:25527629|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26898890|PMID:27405757|PMID:27535533|PMID:28008555|PMID:28418444|PMID:28492532|PMID:29043291|PMID:29706350|PMID:29785012|PMID:9467011|PMID:9619835|PMID:9788441
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1612	breast cancer		ISO	RGD:69119	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:11918710|PMID:14569134|PMID:14623110|PMID:16199547|PMID:16773562|PMID:17526801|PMID:20712882|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21869887|PMID:22558107|PMID:23315997|PMID:23399955|PMID:24136893|PMID:25132236|PMID:25527629|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26898890|PMID:27405757|PMID:27535533|PMID:28008555|PMID:28418444|PMID:28492532|PMID:29043291|PMID:29706350|PMID:29785012|PMID:31006514|PMID:31567591|PMID:32350270|PMID:32366478|PMID:35931053|PMID:9467011|PMID:9619835|PMID:9788441
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1612	breast cancer		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10866302|PMID:17526801|PMID:17928923|PMID:20712882|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21869887|PMID:22469695|PMID:23399955|PMID:24136893|PMID:24766807|PMID:25132236|PMID:25527629|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26898890|PMID:27405757|PMID:28008555|PMID:28418444|PMID:28492532|PMID:29043291|PMID:29152901|PMID:29706350|PMID:29706633|PMID:29785012|PMID:30311380|PMID:30327747|PMID:31006514|PMID:31567591|PMID:32350270|PMID:32366478|PMID:34793697|PMID:35101336|PMID:35931053|PMID:38645101|PMID:9140396|PMID:9256433
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:69119	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast	PMID:12055674|REF_RGD_ID:2292514
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1793	pancreatic cancer		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19917848
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1826	epilepsy		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:10866302|PMID:16704655|PMID:17167516|PMID:17942903|PMID:19457929|PMID:20301661|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21956414|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23161105|PMID:23399955|PMID:23470840|PMID:23613428|PMID:24436047|PMID:24728327|PMID:24766807|PMID:24778394|PMID:25186627|PMID:25669429|PMID:25741868|PMID:26138366|PMID:26246517|PMID:26467025|PMID:26580448|PMID:26800850|PMID:27477328|PMID:27514801|PMID:27720647|PMID:27993330|PMID:28135145|PMID:28492532|PMID:28523199|PMID:28912153|PMID:28966033|PMID:29296277|PMID:29706350|PMID:29785012|PMID:30311380|PMID:30617281|PMID:32003824|PMID:32350270|PMID:32442409|PMID:33077954|PMID:33887726|PMID:34793697|PMID:35195909|PMID:35264596|PMID:35534704|PMID:35980532|PMID:38311546|PMID:38645101|PMID:39402389|PMID:39694930|PMID:9288766|PMID:9467011|PMID:9600246|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1827	generalized epilepsy		ISO	RGD:69119	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1909	melanoma		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MALIGNANT MELANOMA, SOMATIC | ClinVar Annotator: match by term: Melanoma	PMID:10866302|PMID:10978354|PMID:11875759|PMID:16773562|PMID:17942903|PMID:19457929|PMID:20300775|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24033266|PMID:24055113|PMID:24436047|PMID:24766807|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26138366|PMID:26467025|PMID:26798346|PMID:27477328|PMID:27993330|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:29785012|PMID:30311380|PMID:30617281|PMID:31006514|PMID:31653154|PMID:32350270|PMID:32442409|PMID:32885271|PMID:33077954|PMID:33471991|PMID:34793697|PMID:35931053|PMID:38645101|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1909	melanoma		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MALIGNANT MELANOMA, SOMATIC | ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Melanoma	PMID:10866302|PMID:10978354|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24033266|PMID:24055113|PMID:24436047|PMID:24766807|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26138366|PMID:26467025|PMID:27477328|PMID:27993330|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:30617281|PMID:31006514|PMID:31653154|PMID:32350270|PMID:32442409|PMID:32885271|PMID:33077954|PMID:33471991|PMID:34793697|PMID:35931053|PMID:38645101|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1924	hypogonadism		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:1969	cerebral palsy		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:2018	hyperinsulinism		ISO	RGD:61995	D	RGD:9068941	20200609	RGD		protein:decreased expression:ovary	PMID:18421022|REF_RGD_ID:2292519
8706988	Pten	phosphatase and tensin homolog	gene	DOID:2030	anxiety disorder		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:10866302|PMID:17526800|PMID:17942903|PMID:18626099|PMID:18986487|PMID:19265751|PMID:19457929|PMID:20301661|PMID:20533527|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23399955|PMID:23470840|PMID:23633456|PMID:24033266|PMID:24436047|PMID:24721394|PMID:24766807|PMID:25669429|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29706350|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:35101336|PMID:37307869|PMID:39694930|PMID:9619835|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:2043	hepatitis B	exacerbates	ISO	RGD:62287	D	RGD:9068941	20210625	RGD		mRNA:decreased expression:liver (mouse)	PMID:31604033|REF_RGD_ID:127285593
8706988	Pten	phosphatase and tensin homolog	gene	DOID:219	colon cancer		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer | ClinVar Annotator: match by term: colon cancer	PMID:10866302|PMID:11875759|PMID:16773562|PMID:17942903|PMID:19457929|PMID:20300775|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:26798346|PMID:26845104|PMID:27477328|PMID:27993330|PMID:28475857|PMID:28492532|PMID:29359449|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:219	colon cancer		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colon cancer | ClinVar Annotator: match by term: colon cancer	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:26845104|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:2234	focal epilepsy		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:10555148|PMID:12938083|PMID:15211648|PMID:17324556|PMID:20685300|PMID:21194675|PMID:21828076|PMID:24766807|PMID:25647146|PMID:25741868|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:31970404
8706988	Pten	phosphatase and tensin homolog	gene	DOID:224	transient cerebral ischemia		ISO	RGD:61995	D	RGD:9068941	20200609	RGD			PMID:12414116|REF_RGD_ID:1358425
8706988	Pten	phosphatase and tensin homolog	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:2394	ovarian cancer		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer	PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:31006514|PMID:32350270|PMID:32885271|PMID:33471991|PMID:34793697|PMID:35931053|PMID:38645101
8706988	Pten	phosphatase and tensin homolog	gene	DOID:2394	ovarian cancer	ameliorates	ISO	RGD:69119	D	RGD:9068941	20210625	RGD		human gene and cells in a mouse model	PMID:18347155|REF_RGD_ID:127285605
8706988	Pten	phosphatase and tensin homolog	gene	DOID:2468	psychotic disorder		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:255	hemangioma		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:21194675|PMID:25741868|PMID:28492532|PMID:9467011
8706988	Pten	phosphatase and tensin homolog	gene	DOID:264	hemangiopericytoma		ISO	RGD:69119	D	RGD:9068941	20221110	RGD		protein:decreased expression:anterior temporal lobe	PMID:26951238|REF_RGD_ID:155663351
8706988	Pten	phosphatase and tensin homolog	gene	DOID:2841	asthma		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:2843	long QT syndrome		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21097842
8706988	Pten	phosphatase and tensin homolog	gene	DOID:2870	endometrial adenocarcinoma	ameliorates	ISO	RGD:1319700	D	RGD:9068941	20210625	RGD			PMID:32843721|REF_RGD_ID:127285600
8706988	Pten	phosphatase and tensin homolog	gene	DOID:2871	endometrial carcinoma		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:10866302|PMID:10920277|PMID:11051241|PMID:11948419|PMID:16014636|PMID:16199547|PMID:17576681|PMID:17942903|PMID:1945792|PMID:19457929|PMID:20600018|PMID:20926450|PMID:21103832|PMID:21194675|PMID:21822720|PMID:21828076|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24033266|PMID:24055113|PMID:24292679|PMID:24766807|PMID:24778394|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26418532|PMID:26467025|PMID:26795104|PMID:27535533|PMID:28492532|PMID:28677221|PMID:29152901|PMID:29533785|PMID:29706350|PMID:29785012|PMID:29931205|PMID:30311380|PMID:31006514|PMID:31636093|PMID:32350270|PMID:32885271|PMID:33471991|PMID:33723755|PMID:34386506|PMID:34793697|PMID:35101336|PMID:35931053|PMID:36453251|PMID:38645101|PMID:9259288|PMID:9467011|PMID:9536098|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:2938	Epstein-Barr virus infectious disease		ISO	RGD:69119	D	RGD:9068941	20210625	RGD		associated with stomach carcinoma;DNA:hypermethylation:promoter (human)	PMID:19339266|REF_RGD_ID:127285616
8706988	Pten	phosphatase and tensin homolog	gene	DOID:299	adenocarcinoma		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17909629
8706988	Pten	phosphatase and tensin homolog	gene	DOID:303	substance-related disorder		ISO	RGD:61995	D	RGD:9068941	20200609	RGD			PMID:16474401|REF_RGD_ID:2292548
8706988	Pten	phosphatase and tensin homolog	gene	DOID:305	carcinoma		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9326929
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3070	high grade glioma		ISO	RGD:69119	D	RGD:7240710	20251022	OMIM			
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3070	high grade glioma		ISO	RGD:69119	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 2	PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11156408|PMID:11234884|PMID:11274365|PMID:11332402|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11918710|PMID:12085208|PMID:12471211|PMID:12614768|PMID:12844284|PMID:1336932|PMID:14518070|PMID:14675182|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15647370|PMID:15805158|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18759867|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20223021|PMID:20301661|PMID:20453058|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20881644|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22281088|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22520842|PMID:22595938|PMID:22628360|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24345843|PMID:24375884|PMID:24404930|PMID:24498881|PMID:24766807|PMID:24778394|PMID:24809327|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25429968|PMID:25527629|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26246517|PMID:26376867|PMID:26467025|PMID:26579216|PMID:26633542|PMID:26773036|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27477328|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27829222|PMID:27959697|PMID:28250423|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28755079|PMID:29273943|PMID:29373119|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30993208|PMID:31006514|PMID:31336731|PMID:32150788|PMID:32234455|PMID:32238909|PMID:32350270|PMID:32664367|PMID:32832836|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33600059|PMID:33723755|PMID:34386506|PMID:35227301|PMID:36988593|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9326929|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9735393|PMID:9740666|PMID:9856571
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3070	high grade glioma		ISO	RGD:69119	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 2	PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11156408|PMID:11234884|PMID:11274365|PMID:11332402|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11918710|PMID:12085208|PMID:12471211|PMID:12614768|PMID:12844284|PMID:1336932|PMID:14518070|PMID:14675182|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15647370|PMID:15805158|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18759867|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20223021|PMID:20301661|PMID:20453058|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20881644|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22281088|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22520842|PMID:22595938|PMID:22628360|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24345843|PMID:24375884|PMID:24404930|PMID:24498881|PMID:24766807|PMID:24778394|PMID:24809327|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25429968|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26246517|PMID:26376867|PMID:26467025|PMID:26579216|PMID:26633542|PMID:26773036|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27477328|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27829222|PMID:27959697|PMID:28250423|PMID:28286253|PMID:28289760|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28755079|PMID:29273943|PMID:29373119|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30993208|PMID:31006514|PMID:31336731|PMID:32150788|PMID:32234455|PMID:32238909|PMID:32350270|PMID:32664367|PMID:32832836|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33723755|PMID:34386506|PMID:35089076|PMID:35227301|PMID:36988593|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9326929|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9735393|PMID:9740666|PMID:9856571
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3070	high grade glioma		ISO	RGD:69119	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 2	PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11156408|PMID:11234884|PMID:11274365|PMID:11332402|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11918710|PMID:12085208|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12844284|PMID:1336932|PMID:14518070|PMID:14675182|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15647370|PMID:15805158|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18759867|PMID:18767981|PMID:18986487|PMID:19265751|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20223021|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20881644|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22281088|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22520842|PMID:22595938|PMID:22628360|PMID:22703879|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23764071|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24404930|PMID:24498881|PMID:24728327|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25429968|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26124082|PMID:26246517|PMID:26376867|PMID:26467025|PMID:26579216|PMID:26580448|PMID:26633542|PMID:26773036|PMID:26800850|PMID:26898890|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27829222|PMID:28008555|PMID:28135145|PMID:28250423|PMID:28286253|PMID:28289760|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28755079|PMID:29273943|PMID:29371908|PMID:29373119|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31567591|PMID:32150788|PMID:32234455|PMID:32238909|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32664367|PMID:32832836|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33723755|PMID:33887726|PMID:34268892|PMID:34386506|PMID:35089076|PMID:35227301|PMID:35264596|PMID:35931053|PMID:36988593|PMID:7728760|PMID:792966|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9326929|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9735393|PMID:9740666|PMID:9856571
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3070	high grade glioma		ISO	RGD:69119	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11156408|PMID:11234884|PMID:11274365|PMID:11332402|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11918710|PMID:12085208|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12844284|PMID:1336932|PMID:14518070|PMID:14675182|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15492994|PMID:15647370|PMID:15769473|PMID:15805158|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18759867|PMID:18767981|PMID:18986487|PMID:19265751|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20223021|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20881644|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21417916|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22281088|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22520842|PMID:22595938|PMID:22628360|PMID:22703879|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23764071|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24404930|PMID:24468202|PMID:24498881|PMID:24656772|PMID:24728327|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25429968|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26099045|PMID:26124082|PMID:26246517|PMID:26350204|PMID:26376867|PMID:26418532|PMID:26467025|PMID:26504226|PMID:26579216|PMID:26580448|PMID:26633542|PMID:26773036|PMID:26800850|PMID:26898890|PMID:26919320|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27829222|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28250423|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28755079|PMID:29273943|PMID:29371908|PMID:29373119|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31567591|PMID:31594918|PMID:32150788|PMID:32234455|PMID:32238909|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32664367|PMID:32832836|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33723755|PMID:33887726|PMID:34268892|PMID:34386506|PMID:35089076|PMID:35172517|PMID:35227301|PMID:35264596|PMID:35931053|PMID:36988593|PMID:7728760|PMID:792966|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9326929|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9735393|PMID:9740666|PMID:9811831|PMID:9856571
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3070	high grade glioma		ISO	RGD:69119	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11156408|PMID:11234884|PMID:11274365|PMID:11332402|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11918710|PMID:12085208|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12844284|PMID:1336932|PMID:14518070|PMID:14675182|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15492994|PMID:15647370|PMID:15769473|PMID:15805158|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18759867|PMID:18767981|PMID:18986487|PMID:19265751|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20223021|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20881644|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21417916|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22281088|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22520842|PMID:22595938|PMID:22628360|PMID:22703879|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23764071|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24404930|PMID:24468202|PMID:24498881|PMID:24656772|PMID:24728327|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25429968|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26099045|PMID:26124082|PMID:26246517|PMID:26350204|PMID:26376867|PMID:26418532|PMID:26467025|PMID:26504226|PMID:26579216|PMID:26580448|PMID:26633542|PMID:26773036|PMID:26800850|PMID:26898890|PMID:26919320|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27829222|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28250423|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28755079|PMID:29273943|PMID:29371908|PMID:29373119|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31567591|PMID:31594918|PMID:32150788|PMID:32234455|PMID:32238909|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32664367|PMID:32832836|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33723755|PMID:33887726|PMID:34268892|PMID:34386506|PMID:35089076|PMID:35172517|PMID:35227301|PMID:35264596|PMID:35931053|PMID:36988593|PMID:38311546|PMID:7728760|PMID:792966|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9326929|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9735393|PMID:9740666|PMID:9811831|PMID:9856571
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3070	high grade glioma		ISO	RGD:69119	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Glioma | ClinVar Annotator: match by term: Glioma susceptibility 2	PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11332402|PMID:11494117|PMID:11685670|PMID:11918710|PMID:12085208|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14675182|PMID:15120218|PMID:15211648|PMID:15492994|PMID:15769473|PMID:15805158|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18759867|PMID:18986487|PMID:19265751|PMID:19340001|PMID:19457929|PMID:19458356|PMID:19829307|PMID:20223021|PMID:20301661|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20685300|PMID:20712882|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21417916|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22266152|PMID:22281088|PMID:22381246|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22595938|PMID:22628360|PMID:22703879|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24404930|PMID:24468202|PMID:24498881|PMID:24656772|PMID:24728327|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25429968|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26099045|PMID:26124082|PMID:26229595|PMID:26246517|PMID:26350204|PMID:26376867|PMID:26418532|PMID:26467025|PMID:26504226|PMID:26579216|PMID:26580448|PMID:26633542|PMID:26681312|PMID:26773036|PMID:26800850|PMID:26898890|PMID:26919320|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27829222|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28755079|PMID:28873162|PMID:29273943|PMID:29371908|PMID:29373119|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31567591|PMID:31594918|PMID:32150788|PMID:32234455|PMID:32238909|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32664367|PMID:32832836|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33723755|PMID:33887726|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34793697|PMID:35089076|PMID:35172517|PMID:35227301|PMID:35264596|PMID:35931053|PMID:35971940|PMID:36988593|PMID:38311546|PMID:38645101|PMID:7728760|PMID:792966|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9326929|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9600246|PMID:9735393|PMID:9740666|PMID:9811831|PMID:9856571
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3070	high grade glioma		ISO	RGD:69119	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Glioma | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11332402|PMID:11494117|PMID:11685670|PMID:11918710|PMID:12085208|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14675182|PMID:15120218|PMID:15211648|PMID:15492994|PMID:15769473|PMID:15805158|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18759867|PMID:19340001|PMID:19457929|PMID:19458356|PMID:19829307|PMID:20223021|PMID:20301661|PMID:20538496|PMID:20600018|PMID:20685300|PMID:20712882|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21417916|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22266152|PMID:22281088|PMID:22381246|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22595938|PMID:22628360|PMID:22703879|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24404930|PMID:24468202|PMID:24498881|PMID:24656772|PMID:24728327|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25429968|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26099045|PMID:26124082|PMID:26229595|PMID:26246517|PMID:26350204|PMID:26376867|PMID:26418532|PMID:26467025|PMID:26504226|PMID:26579216|PMID:26580448|PMID:26633542|PMID:26681312|PMID:26773036|PMID:26800850|PMID:26898890|PMID:26919320|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27829222|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28755079|PMID:28873162|PMID:29273943|PMID:29371908|PMID:29373119|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31567591|PMID:31594918|PMID:32037394|PMID:32150788|PMID:32234455|PMID:32238909|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32664367|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33723755|PMID:33887726|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34793697|PMID:35089076|PMID:35172517|PMID:35227301|PMID:35264596|PMID:35931053|PMID:35971940|PMID:36988593|PMID:38311546|PMID:38645101|PMID:7728760|PMID:792966|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9326929|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9600246|PMID:9735393|PMID:9740666|PMID:9811831|PMID:9856571
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3070	high grade glioma		ISO	RGD:69119	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Glioma | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11332402|PMID:11494117|PMID:11685670|PMID:11918710|PMID:12085208|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14675182|PMID:15120218|PMID:15211648|PMID:15492994|PMID:15769473|PMID:15805158|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18759867|PMID:19340001|PMID:19457929|PMID:19458356|PMID:19829307|PMID:20223021|PMID:20301661|PMID:20538496|PMID:20600018|PMID:20685300|PMID:20712882|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21417916|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22266152|PMID:22281088|PMID:22381246|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22595938|PMID:22628360|PMID:22703879|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24404930|PMID:24468202|PMID:24498881|PMID:24656772|PMID:24728327|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25429968|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26099045|PMID:26124082|PMID:26229595|PMID:26246517|PMID:26350204|PMID:26376867|PMID:26418532|PMID:26467025|PMID:26504226|PMID:26579216|PMID:26580448|PMID:26633542|PMID:26681312|PMID:26773036|PMID:26800850|PMID:26898890|PMID:26919320|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27829222|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28755079|PMID:28873162|PMID:29273943|PMID:29371908|PMID:29373119|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31567591|PMID:31594918|PMID:32037394|PMID:32150788|PMID:32234455|PMID:32238909|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32664367|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33723755|PMID:33887726|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34793697|PMID:35089076|PMID:35172517|PMID:35227301|PMID:35264596|PMID:35931053|PMID:35971940|PMID:35982159|PMID:36959127|PMID:36988593|PMID:38311546|PMID:38645101|PMID:7728760|PMID:792966|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9326929|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9600246|PMID:9735393|PMID:9740666|PMID:9811831|PMID:9856571
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3070	high grade glioma		ISO	RGD:69119	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Glioma | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11332402|PMID:11494117|PMID:11685670|PMID:11918710|PMID:12085208|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12844284|PMID:1336932|PMID:14518070|PMID:14675182|PMID:15120218|PMID:15211648|PMID:15492994|PMID:15769473|PMID:15805158|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18759867|PMID:19340001|PMID:19457929|PMID:19458356|PMID:19829307|PMID:20223021|PMID:20301661|PMID:20538496|PMID:20600018|PMID:20685300|PMID:20712882|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22266152|PMID:22281088|PMID:22381246|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22595938|PMID:22628360|PMID:22703879|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23764071|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24404930|PMID:24468202|PMID:24498881|PMID:24656772|PMID:24728327|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25429968|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26099045|PMID:26124082|PMID:26246517|PMID:26350204|PMID:26376867|PMID:26418532|PMID:26467025|PMID:26504226|PMID:26579216|PMID:26580448|PMID:26633542|PMID:26681312|PMID:26773036|PMID:26800850|PMID:26898890|PMID:26919320|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27829222|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28755079|PMID:28873162|PMID:29273943|PMID:29371908|PMID:29373119|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31567591|PMID:31594918|PMID:32037394|PMID:32150788|PMID:32234455|PMID:32238909|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32664367|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33723755|PMID:33887726|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34793697|PMID:35089076|PMID:35101336|PMID:35227301|PMID:35264596|PMID:35931053|PMID:35971940|PMID:35982159|PMID:36959127|PMID:36988593|PMID:38311546|PMID:38645101|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9326929|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9600246|PMID:9735393|PMID:9740666|PMID:9811831|PMID:9856571
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3070	high grade glioma		ISO	RGD:69119	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Glioma | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11332402|PMID:11494117|PMID:11685670|PMID:11918710|PMID:12085208|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14675182|PMID:15120218|PMID:15211648|PMID:15492994|PMID:15769473|PMID:15805158|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18759867|PMID:19340001|PMID:19457929|PMID:19458356|PMID:19829307|PMID:20223021|PMID:20301661|PMID:20538496|PMID:20600018|PMID:20685300|PMID:20712882|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21417916|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22266152|PMID:22281088|PMID:22381246|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22595938|PMID:22628360|PMID:22703879|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24404930|PMID:24468202|PMID:24498881|PMID:24656772|PMID:24728327|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25429968|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26099045|PMID:26124082|PMID:26229595|PMID:26246517|PMID:26350204|PMID:26376867|PMID:26418532|PMID:26467025|PMID:26504226|PMID:26579216|PMID:26580448|PMID:26633542|PMID:26681312|PMID:26773036|PMID:26800850|PMID:26898890|PMID:26919320|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27829222|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28755079|PMID:28873162|PMID:29273943|PMID:29371908|PMID:29373119|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31567591|PMID:31594918|PMID:32037394|PMID:32150788|PMID:32234455|PMID:32238909|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32664367|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33723755|PMID:33887726|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34793697|PMID:35089076|PMID:35101336|PMID:35172517|PMID:35227301|PMID:35264596|PMID:35931053|PMID:35971940|PMID:35982159|PMID:36959127|PMID:36988593|PMID:38311546|PMID:38645101|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9326929|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9600246|PMID:9735393|PMID:9740666|PMID:9811831|PMID:9856571
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3070	high grade glioma		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2	PMID:10076877|PMID:10234502|PMID:10400993|PMID:10866302|PMID:11051241|PMID:11071384|PMID:11156408|PMID:11332402|PMID:11494117|PMID:12085208|PMID:12844284|PMID:14566704|PMID:15120218|PMID:15492994|PMID:15805158|PMID:16014636|PMID:16199547|PMID:16752378|PMID:16773562|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17873119|PMID:17873882|PMID:17942903|PMID:18080326|PMID:18759867|PMID:19340001|PMID:19457929|PMID:19458356|PMID:19829307|PMID:20538496|PMID:20600018|PMID:20712882|PMID:20926450|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22261759|PMID:22266152|PMID:22491738|PMID:22595938|PMID:22970944|PMID:23161105|PMID:23335809|PMID:23349303|PMID:23442912|PMID:23470840|PMID:23934111|PMID:24033266|PMID:24055113|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24468202|PMID:24728327|PMID:24766807|PMID:24778394|PMID:24809327|PMID:25132236|PMID:25186627|PMID:25288137|PMID:25429968|PMID:25527629|PMID:25637381|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25937288|PMID:25980754|PMID:26124082|PMID:26246517|PMID:26350204|PMID:26467025|PMID:26504226|PMID:26579216|PMID:26580448|PMID:26633542|PMID:26681312|PMID:26773036|PMID:26800850|PMID:26898890|PMID:27221918|PMID:27405757|PMID:27477328|PMID:27514801|PMID:27531073|PMID:27720647|PMID:27993330|PMID:28008555|PMID:28135145|PMID:28195393|PMID:28289760|PMID:28418444|PMID:28492532|PMID:28677221|PMID:28724667|PMID:28726821|PMID:28755079|PMID:29273943|PMID:29373119|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29785012|PMID:29931205|PMID:29970488|PMID:30287823|PMID:30311380|PMID:30374176|PMID:31006514|PMID:31079897|PMID:31567591|PMID:32150788|PMID:32157856|PMID:32196895|PMID:32234455|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33471991|PMID:33723755|PMID:33876391|PMID:33887726|PMID:34386506|PMID:34793697|PMID:34906515|PMID:35101336|PMID:35227301|PMID:35264596|PMID:35534704|PMID:35931053|PMID:35980532|PMID:35982159|PMID:36959127|PMID:36988593|PMID:38311546|PMID:38645101|PMID:39402389|PMID:9256433|PMID:9259288|PMID:9467011|PMID:9536098|PMID:9600246|PMID:9811831
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3144	cutis laxa		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3151	skin squamous cell carcinoma	ameliorates	ISO	RGD:1556939|RGD:1323418	D	RGD:9068941	20210625	RGD			PMID:24582960|REF_RGD_ID:126928134
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3153	lipomatosis		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11748304
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3275	thymoma		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:18757403|PMID:25669429|PMID:25741868|PMID:27477328|PMID:28013114|PMID:28492532|PMID:28677221
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3312	bipolar disorder		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3314	angiomyolipoma		ISO	RGD:69119	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney (human)	PMID:22737271|REF_RGD_ID:12802360
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3315	lipoma		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lipoma	PMID:18757403|PMID:25669429|PMID:25741868|PMID:27477328|PMID:28013114|PMID:28492532|PMID:28677221
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3347	osteosarcoma		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteosarcoma	PMID:25512523|PMID:26632267|PMID:27499911|PMID:27993330|PMID:28643781
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3459	breast carcinoma		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:10866302|PMID:16773562|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9467011|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3565	meningioma		ISO	RGD:69119	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Meningioma	PMID:12085208|PMID:17873882|PMID:19340001|PMID:19458356|PMID:19829307|PMID:22491738|PMID:23349303|PMID:23442912|PMID:24809327|PMID:25741868|PMID:26773036|PMID:27221918|PMID:28492532|PMID:28755079|PMID:29373119|PMID:29785012|PMID:30287823
8706988	Pten	phosphatase and tensin homolog	gene	DOID:37	skin disease		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19321504
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:69119	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:69119	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:10866302|PMID:11051241|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26418532|PMID:26619011|PMID:26798346|PMID:27147599|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:28677221|PMID:29359449|PMID:29706350|PMID:29785012|PMID:30311380|PMID:30528446|PMID:31159747|PMID:31636093|PMID:32350270|PMID:32442409|PMID:33077954|PMID:9467011|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3742	bladder squamous cell carcinoma	disease_progression	ISO	RGD:69119	D	RGD:9068941	20210625	RGD		associated with schistosomiasis;protein:decreased expression:urothelium (human)	PMID:26916953|REF_RGD_ID:127285612
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:69119	D	RGD:8554872	20250114	ClinVar		ClinVar Annotator: match by term: Squamous Cell Lung Carcinoma | ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:69119	D	RGD:9068941	20250116	RGD		DNA:loss of heterozygosity:cds: (human)	PMID:9458098|REF_RGD_ID:12832745
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:69119	D	RGD:9068941	20250116	RGD		mRNA:decreased expression:lung (human)	PMID:20223231|PMID:22956424|REF_RGD_ID:152998889|REF_RGD_ID:152998901
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:69119	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
8706988	Pten	phosphatase and tensin homolog	gene	DOID:3962	follicular thyroid carcinoma		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: THYROID CARCINOMA, FOLLICULAR	PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:31006514|PMID:32350270|PMID:32885271|PMID:33471991|PMID:34793697|PMID:35931053|PMID:38645101
8706988	Pten	phosphatase and tensin homolog	gene	DOID:4001	ovarian carcinoma		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian carcinoma	PMID:25741868
8706988	Pten	phosphatase and tensin homolog	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8706988	Pten	phosphatase and tensin homolog	gene	DOID:420	hypertrichosis		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:23161105|PMID:24728327|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26800850|PMID:27720647|PMID:28135145|PMID:28492532|PMID:29785012|PMID:30311380|PMID:33887726|PMID:34793697|PMID:35264596|PMID:35534704|PMID:35980532|PMID:38311546|PMID:38645101|PMID:39402389
8706988	Pten	phosphatase and tensin homolog	gene	DOID:4362	cervical cancer		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:10866302|PMID:16199547|PMID:17873119|PMID:17942903|PMID:19265751|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23399955|PMID:23470840|PMID:24379037|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:26681312|PMID:27477328|PMID:27993330|PMID:28492532|PMID:28526761|PMID:28677221|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:35101336|PMID:39694930|PMID:9259288|PMID:9467011|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:4450	renal cell carcinoma		ISO	RGD:69119	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma	PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:4450	renal cell carcinoma		ISO	RGD:69119	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Renal adenocarcinoma	PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:69119	D	RGD:9068941	20200609	RGD			PMID:15821467|REF_RGD_ID:2292513
8706988	Pten	phosphatase and tensin homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:10866302|PMID:16199547|PMID:17576681|PMID:21194675|PMID:23470840|PMID:24375884|PMID:25741868|PMID:27477328|PMID:27535533|PMID:28492532|PMID:29706350|PMID:29785012|PMID:32350270|PMID:9467011|PMID:9536098
8706988	Pten	phosphatase and tensin homolog	gene	DOID:4586	familial meningioma		ISO	RGD:69119	D	RGD:7240710	20251022	OMIM			
8706988	Pten	phosphatase and tensin homolog	gene	DOID:4586	familial meningioma		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to	PMID:10076877|PMID:10234502|PMID:10400993|PMID:10866302|PMID:11051241|PMID:11071384|PMID:11156408|PMID:11332402|PMID:12844284|PMID:14566704|PMID:15492994|PMID:16014636|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17873119|PMID:17942903|PMID:18080326|PMID:19457929|PMID:20926450|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22261759|PMID:22970944|PMID:23161105|PMID:23335809|PMID:23934111|PMID:24033266|PMID:24055113|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24468202|PMID:24728327|PMID:24778394|PMID:25132236|PMID:25186627|PMID:25288137|PMID:25637381|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26246517|PMID:26467025|PMID:26580448|PMID:26633542|PMID:26681312|PMID:26800850|PMID:26898890|PMID:27477328|PMID:27514801|PMID:27531073|PMID:27720647|PMID:27993330|PMID:28008555|PMID:28135145|PMID:28418444|PMID:28492532|PMID:28677221|PMID:28724667|PMID:28726821|PMID:29273943|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29785012|PMID:29970488|PMID:30311380|PMID:31006514|PMID:31567591|PMID:32196895|PMID:32350270|PMID:32366478|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33471991|PMID:33876391|PMID:33887726|PMID:34793697|PMID:34906515|PMID:35101336|PMID:35227301|PMID:35264596|PMID:35534704|PMID:35931053|PMID:35980532|PMID:36988593|PMID:38311546|PMID:38645101|PMID:39402389|PMID:9259288|PMID:9467011|PMID:9536098|PMID:9600246
8706988	Pten	phosphatase and tensin homolog	gene	DOID:480	movement disease		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:4928	intrahepatic cholangiocarcinoma	disease_progression	ISO	RGD:69119	D	RGD:9068941	20220519	RGD		protein:decreased expression:liver (human)	PMID:24796583|REF_RGD_ID:152177907
8706988	Pten	phosphatase and tensin homolog	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:62287	D	RGD:9068941	20200609	RGD			PMID:23376645|REF_RGD_ID:12802341
8706988	Pten	phosphatase and tensin homolog	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27022031
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:18757403|PMID:25669429|PMID:25741868|PMID:27477328|PMID:28013114|PMID:28492532|PMID:28677221
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5041	esophageal cancer	treatment	ISO	RGD:69119	D	RGD:9068941	20210625	RGD		human gene and cells in a mouse model	PMID:20378992|REF_RGD_ID:127285592
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5082	liver cirrhosis		ISO	RGD:62287	D	RGD:9068941	20210625	RGD		associated with schistosomiasis;protein, mRNA:decreased expression:liver (mouse)	PMID:31907686|REF_RGD_ID:127285596
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5082	liver cirrhosis		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26023714
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:69119	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941188
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5419	schizophrenia		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma	PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:31006514|PMID:32350270|PMID:32885271|PMID:33471991|PMID:34793697|PMID:35931053|PMID:38645101
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69119	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10076877|PMID:10400993|PMID:11108659|PMID:12938083|PMID:14566704|PMID:16598737|PMID:16773562|PMID:17427195|PMID:17942903|PMID:20395440|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23934111|PMID:24004025|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32295079|PMID:32566746|PMID:9619835
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69119	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10076877|PMID:10400993|PMID:11108659|PMID:12938083|PMID:14566704|PMID:16598737|PMID:16773562|PMID:17427195|PMID:17942903|PMID:20395440|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23934111|PMID:24004025|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:30287823|PMID:32295079|PMID:32566746|PMID:9619835
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69119	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:17427195|PMID:17942903|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32295079|PMID:32566746|PMID:9619835
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69119	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:27535533|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32566746|PMID:33471991|PMID:9619835|PMID:9788441
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69119	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:27535533|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32566746|PMID:33471991|PMID:36988593|PMID:9619835|PMID:9788441
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69119	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:27535533|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33471991|PMID:36988593|PMID:9619835|PMID:9788441
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69119	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:27535533|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:29945567|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33471991|PMID:36988593|PMID:9619835|PMID:9788441
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69119	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:29945567|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33471991|PMID:36988593|PMID:9619835|PMID:9788441
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69119	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:29945567|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33471991|PMID:34268892|PMID:36988593|PMID:9619835|PMID:9788441
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69119	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10076877|PMID:10400993|PMID:10555148|PMID:12372056|PMID:12938083|PMID:14566704|PMID:14623110|PMID:16773562|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22261759|PMID:22558107|PMID:22703879|PMID:23161105|PMID:23315997|PMID:23442912|PMID:23555315|PMID:23934111|PMID:24033266|PMID:24136893|PMID:24375884|PMID:24744697|PMID:24763289|PMID:25132236|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26800850|PMID:26898890|PMID:27428751|PMID:27477328|PMID:27535533|PMID:28008555|PMID:28263302|PMID:28418444|PMID:28492532|PMID:28677221|PMID:29371908|PMID:29706350|PMID:29785012|PMID:29945567|PMID:30287823|PMID:30374176|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31567591|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32566746|PMID:33471991|PMID:34268892|PMID:35931053|PMID:36988593|PMID:9619835|PMID:9788441
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69119	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10076877|PMID:10400993|PMID:10555148|PMID:12372056|PMID:12938083|PMID:14566704|PMID:14623110|PMID:16773562|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22261759|PMID:22558107|PMID:22703879|PMID:23161105|PMID:23315997|PMID:23442912|PMID:23555315|PMID:23934111|PMID:24033266|PMID:24136893|PMID:24375884|PMID:24744697|PMID:24763289|PMID:25132236|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26800850|PMID:26898890|PMID:27428751|PMID:27477328|PMID:27535533|PMID:28008555|PMID:28263302|PMID:28418444|PMID:28492532|PMID:28677221|PMID:29371908|PMID:29706350|PMID:29785012|PMID:29945567|PMID:30287823|PMID:30374176|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31567591|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32566746|PMID:33471991|PMID:34268892|PMID:35931053|PMID:36988593|PMID:38028594|PMID:9619835|PMID:9788441
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69119	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10076877|PMID:10400993|PMID:10555148|PMID:12372056|PMID:12844284|PMID:14566704|PMID:14623110|PMID:16773562|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22261759|PMID:22558107|PMID:22703879|PMID:23315997|PMID:23442912|PMID:23555315|PMID:23934111|PMID:24033266|PMID:24136893|PMID:24375884|PMID:24763289|PMID:25132236|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26800850|PMID:26898890|PMID:27428751|PMID:27477328|PMID:27535533|PMID:28008555|PMID:28418444|PMID:28492532|PMID:28677221|PMID:29371908|PMID:29706350|PMID:29785012|PMID:29945567|PMID:30287823|PMID:30374176|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31567591|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32566746|PMID:32959437|PMID:33471991|PMID:34268892|PMID:35931053|PMID:36988593|PMID:38028594|PMID:9619835|PMID:9788441
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69119	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10076877|PMID:10400993|PMID:10555148|PMID:12372056|PMID:12844284|PMID:14566704|PMID:14623110|PMID:16773562|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22261759|PMID:22558107|PMID:22703879|PMID:23315997|PMID:23442912|PMID:23555315|PMID:23934111|PMID:24033266|PMID:24136893|PMID:24375884|PMID:24763289|PMID:25132236|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26800850|PMID:26898890|PMID:27428751|PMID:27477328|PMID:27535533|PMID:28008555|PMID:28418444|PMID:28492532|PMID:28677221|PMID:29371908|PMID:29706350|PMID:29785012|PMID:29945567|PMID:30287823|PMID:30374176|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31567591|PMID:32185379|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32566746|PMID:32959437|PMID:33471991|PMID:34268892|PMID:35264596|PMID:35931053|PMID:36988593|PMID:38028594|PMID:9619835|PMID:9788441
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69119	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10076877|PMID:10400993|PMID:10555148|PMID:12372056|PMID:12844284|PMID:14566704|PMID:14623110|PMID:15689448|PMID:16773562|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21943391|PMID:21956414|PMID:22261759|PMID:22558107|PMID:22703879|PMID:23315997|PMID:23442912|PMID:23555315|PMID:23934111|PMID:24033266|PMID:24136893|PMID:24375884|PMID:24763289|PMID:25132236|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26800850|PMID:26898890|PMID:27428751|PMID:27477328|PMID:27535533|PMID:28008555|PMID:28418444|PMID:28492532|PMID:28677221|PMID:29371908|PMID:29706350|PMID:29785012|PMID:29945567|PMID:30287823|PMID:30311380|PMID:30374176|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31567591|PMID:32185379|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32566746|PMID:32959437|PMID:33471991|PMID:34268892|PMID:34793697|PMID:35264596|PMID:35931053|PMID:36988593|PMID:38028594|PMID:38645101|PMID:9619835|PMID:9788441
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69119	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10076877|PMID:10400993|PMID:10555148|PMID:12372056|PMID:12844284|PMID:14566704|PMID:14623110|PMID:16773562|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22261759|PMID:22558107|PMID:22703879|PMID:23315997|PMID:23442912|PMID:23555315|PMID:23934111|PMID:24033266|PMID:24136893|PMID:24375884|PMID:24763289|PMID:25132236|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26800850|PMID:26898890|PMID:27428751|PMID:27477328|PMID:27535533|PMID:28008555|PMID:28418444|PMID:28492532|PMID:28677221|PMID:29371908|PMID:29706350|PMID:29785012|PMID:29945567|PMID:30287823|PMID:30311380|PMID:30374176|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31567591|PMID:32185379|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32566746|PMID:32959437|PMID:33471991|PMID:34268892|PMID:34793697|PMID:35264596|PMID:35931053|PMID:36988593|PMID:38028594|PMID:38645101|PMID:9619835|PMID:9788441
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome	PMID:25741868|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30287823|PMID:30311380|PMID:30374176|PMID:32566746|PMID:34793697|PMID:38645101
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30287823|PMID:30311380|PMID:30374176|PMID:34793697|PMID:38645101
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10555148|PMID:12372056|PMID:21194675|PMID:21659347|PMID:21956414|PMID:22703879|PMID:23442912|PMID:23555315|PMID:24763289|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26800850|PMID:27428751|PMID:27477328|PMID:28492532|PMID:29371908|PMID:29706350|PMID:29785012|PMID:30287823|PMID:30311380|PMID:30374176|PMID:31144778|PMID:31159747|PMID:31209962|PMID:33471991|PMID:34268892|PMID:34793697|PMID:38645101
8706988	Pten	phosphatase and tensin homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10076877|PMID:10400993|PMID:12844284|PMID:14566704|PMID:17942903|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:22261759|PMID:23934111|PMID:24033266|PMID:24136893|PMID:24375884|PMID:25132236|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26898890|PMID:27477328|PMID:28008555|PMID:28418444|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30287823|PMID:30311380|PMID:30374176|PMID:31006514|PMID:31567591|PMID:32350270|PMID:32366478|PMID:32959437|PMID:34793697|PMID:35931053|PMID:36988593|PMID:38645101
8706988	Pten	phosphatase and tensin homolog	gene	DOID:6067	ovarian mucinous neoplasm		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Borderline Ovarian Mucinous Tumor	PMID:21720365|PMID:25527629|PMID:25741868|PMID:27993330|PMID:29785012|PMID:29793804|PMID:31477716|PMID:32616873
8706988	Pten	phosphatase and tensin homolog	gene	DOID:630	genetic disease		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8706988	Pten	phosphatase and tensin homolog	gene	DOID:6457	Cowden syndrome		ISO	RGD:69119	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome | ClinVar Annotator: match by term: Lhermitte-Duclos disease	PMID:10051160|PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10920277|PMID:10923032|PMID:11504908|PMID:11685670|PMID:14518070|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16952599|PMID:17392703|PMID:17526800|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20453058|PMID:20600018|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22281088|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22520842|PMID:23335809|PMID:23349303|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23886400|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26376867|PMID:26467025|PMID:26492180|PMID:26773036|PMID:26845104|PMID:27324988|PMID:27426521|PMID:27477328|PMID:27959697|PMID:28286253|PMID:28492532|PMID:28526761|PMID:29663862|PMID:30287823|PMID:30614812|PMID:30793491|PMID:32238909|PMID:33077954|PMID:8071972|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803
8706988	Pten	phosphatase and tensin homolog	gene	DOID:6457	Cowden syndrome		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cowden Syndrome | ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome	PMID:10468583|PMID:10848731|PMID:10866302|PMID:14711368|PMID:17213812|PMID:17526801|PMID:17942903|PMID:19457929|PMID:20301661|PMID:20600018|PMID:20712882|PMID:20962022|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22520842|PMID:22595938|PMID:23335809|PMID:23399955|PMID:23470840|PMID:23475934|PMID:23886400|PMID:23917401|PMID:24033266|PMID:24055113|PMID:24375884|PMID:24436047|PMID:24766807|PMID:24778394|PMID:25263454|PMID:25429968|PMID:25549896|PMID:25637381|PMID:25741868|PMID:25875300|PMID:25980754|PMID:26138366|PMID:26418532|PMID:26467025|PMID:26492180|PMID:26612463|PMID:26845104|PMID:27324988|PMID:27477328|PMID:27993330|PMID:28086757|PMID:28263967|PMID:28492532|PMID:29273943|PMID:29706350|PMID:29752200|PMID:29785012|PMID:30311380|PMID:30374176|PMID:30617281|PMID:30793491|PMID:30978501|PMID:31006514|PMID:31130284|PMID:31220904|PMID:31336731|PMID:32123317|PMID:32196895|PMID:32350270|PMID:32351019|PMID:32442409|PMID:32885271|PMID:33077954|PMID:33208383|PMID:33471991|PMID:34625746|PMID:34793697|PMID:35052351|PMID:35101336|PMID:35227301|PMID:35931053|PMID:36543932|PMID:38645101|PMID:39694930|PMID:9467011|PMID:9735393|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:16014636|PMID:18080326|PMID:21194675|PMID:23470840|PMID:26467025|PMID:28492532|PMID:28677221
8706988	Pten	phosphatase and tensin homolog	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:69119	D	RGD:9068941	20210625	RGD		associated with hepatitis C, liver cirrhosis;protein:decreased expression:liver (human)	PMID:12115563|REF_RGD_ID:127285610
8706988	Pten	phosphatase and tensin homolog	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:69119	D	RGD:9068941	20210625	RGD		protein:decreased expression:liver (human)	PMID:12673720|REF_RGD_ID:127285591
8706988	Pten	phosphatase and tensin homolog	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:69119	D	RGD:9068941	20220630	RGD		protein:decreased expression:liver (human)	PMID:29303510|REF_RGD_ID:152995524
8706988	Pten	phosphatase and tensin homolog	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:61995	D	RGD:9068941	20220422	RGD			PMID:31801250|REF_RGD_ID:151893509
8706988	Pten	phosphatase and tensin homolog	gene	DOID:6846	familial melanoma		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1	PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:31006514|PMID:32350270|PMID:32885271|PMID:33471991|PMID:34793697|PMID:35931053|PMID:38645101
8706988	Pten	phosphatase and tensin homolog	gene	DOID:76	stomach disease		ISO	RGD:61995	D	RGD:9068941	20200609	RGD		associated with Hypertension, Portal;protein:increased expression:stomach mucosa	PMID:14525948|REF_RGD_ID:1581280
8706988	Pten	phosphatase and tensin homolog	gene	DOID:7998	hyperthyroidism		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:8029	sporadic breast cancer		ISO	RGD:69119	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter: (human)	PMID:15287024|REF_RGD_ID:12859037
8706988	Pten	phosphatase and tensin homolog	gene	DOID:83	cataract		ISO	RGD:62287	D	RGD:9068941	20200609	RGD			PMID:24270425|REF_RGD_ID:12859033
8706988	Pten	phosphatase and tensin homolog	gene	DOID:8541	Sezary's disease		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26551667
8706988	Pten	phosphatase and tensin homolog	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:62287	D	RGD:9068941	20200609	RGD			PMID:18268330|REF_RGD_ID:2292497
8706988	Pten	phosphatase and tensin homolog	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19081794|PMID:22581815
8706988	Pten	phosphatase and tensin homolog	gene	DOID:8719	in situ carcinoma		ISO	RGD:69119	D	RGD:9068941	20200609	RGD		associated with Endometrial Neoplasms;protein:decreased expression:endometrium	PMID:17349568|REF_RGD_ID:2289828
8706988	Pten	phosphatase and tensin homolog	gene	DOID:874	bacterial pneumonia	ameliorates	ISO	RGD:62287	D	RGD:9068941	20210625	RGD		myeloid knockout	PMID:21527775|REF_RGD_ID:127285594
8706988	Pten	phosphatase and tensin homolog	gene	DOID:8805	intermediate coronary syndrome		ISO	RGD:69119	D	RGD:9068941	20231026	RGD		RNA:increased expression:serum	PMID:32595526|REF_RGD_ID:401851053
8706988	Pten	phosphatase and tensin homolog	gene	DOID:8923	skin melanoma		ISO	RGD:69119	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:10866302|PMID:11051241|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24033266|PMID:24055113|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:25980754|PMID:26418532|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:28677221|PMID:29359449|PMID:29706350|PMID:29785012|PMID:30311380|PMID:30528446|PMID:31159747|PMID:31636093|PMID:32350270|PMID:32442409|PMID:32832836|PMID:32885271|PMID:33077954|PMID:9467011|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:8923	skin melanoma		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:1097835|PMID:11476841|PMID:16007494|PMID:16773562|PMID:21194675|PMID:21659347|PMID:21956414|PMID:22371648|PMID:24033266|PMID:24055113|PMID:24778394|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:31006514|PMID:32350270|PMID:32885271|PMID:33471991|PMID:34793697|PMID:35931053|PMID:38645101|PMID:9467011
8706988	Pten	phosphatase and tensin homolog	gene	DOID:8947	diabetic retinopathy		ISO	RGD:61995	D	RGD:9068941	20210219	RGD		mRNA, protein:decreased expression:retina	PMID:31759996|REF_RGD_ID:41410819
8706988	Pten	phosphatase and tensin homolog	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:69119	D	RGD:9068941	20200609	RGD		protein:decreased expression:uterine cervix	PMID:17672936|REF_RGD_ID:2298701
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:61995	D	RGD:9068941	20230216	RGD		mRNA:increased expression:spinal cord:	PMID:28601045|REF_RGD_ID:156420142
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9000040	Hypertrophy		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19211884
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:69119	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms	PMID:17919877|REF_RGD_ID:2292499
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:69119	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms;protein:decreased expression:prostate	PMID:17163422|REF_RGD_ID:2292507
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9000466	Prostate Cancer, Somatic		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PROSTATE CANCER, SOMATIC	PMID:10468583|PMID:21194675|PMID:25946202|PMID:28492532|PMID:35101336|PMID:9467011
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9000918	Disease Progression		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20729295
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:62287	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Experimental	PMID:18381417|REF_RGD_ID:2292496
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10978354
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9001239	Delayed Puberty		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9001276	Failure to Thrive		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:26504226|PMID:27477328|PMID:27993330|PMID:28195393|PMID:28492532|PMID:29706350|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9001510	Funnel Chest		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type I malformation	PMID:25263454|PMID:25448479|PMID:25741868|PMID:28492532|PMID:29720545|PMID:33911214|PMID:35101336|PMID:35305867
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9002106	Pneumococcal Pneumonia	ameliorates	ISO	RGD:62287	D	RGD:9068941	20210625	RGD		myeloid knockout	PMID:20505137|REF_RGD_ID:127285597
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:61995	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney cortex, glomerulus	PMID:16804083|REF_RGD_ID:2292546
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23161105|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24728327|PMID:24766807|PMID:25186627|PMID:25741868|PMID:26138366|PMID:26467025|PMID:26580448|PMID:26800850|PMID:27477328|PMID:27720647|PMID:27993330|PMID:28135145|PMID:28492532|PMID:29785012|PMID:30311380|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:33887726|PMID:34793697|PMID:35264596|PMID:35534704|PMID:35980532|PMID:38311546|PMID:38645101|PMID:39402389|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Renal neoplasm	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Prostate neoplasm	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9002304	Prostatic Neoplasms	disease_progression	ISO	RGD:62287	D	RGD:9068941	20200609	RGD			PMID:11854455|REF_RGD_ID:2292510
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:17526800|PMID:17873119|PMID:18757403|PMID:21194675|PMID:21659347|PMID:23335809|PMID:24766807|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28013114|PMID:28492532|PMID:28677221|PMID:30311380|PMID:35101336|PMID:37035742|PMID:9259288|PMID:9467011
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9002569	Overweight		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:23161105|PMID:24728327|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26800850|PMID:27720647|PMID:28135145|PMID:28492532|PMID:29785012|PMID:30311380|PMID:33887726|PMID:34793697|PMID:35264596|PMID:35534704|PMID:35980532|PMID:38311546|PMID:38645101|PMID:39402389
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:69119	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm	PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11918710|PMID:11948419|PMID:1336932|PMID:14518070|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16014636|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18025323|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20600018|PMID:20619739|PMID:20712882|PMID:20881644|PMID:20926450|PMID:21103832|PMID:21190448|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22595938|PMID:23117110|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24292679|PMID:24345843|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26376867|PMID:26467025|PMID:26619011|PMID:26773036|PMID:26795104|PMID:26798346|PMID:27426521|PMID:27477328|PMID:27535533|PMID:27959697|PMID:28235761|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28873162|PMID:29359449|PMID:29594054|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29785012|PMID:30287823|PMID:30528446|PMID:30614812|PMID:30659124|PMID:31336731|PMID:32238909|PMID:32350270|PMID:32378608|PMID:32442409|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33600059|PMID:34308366|PMID:35227301|PMID:36988593|PMID:37090027|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9735393|PMID:9856571|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:69119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm	PMID:10400993|PMID:10866302|PMID:10920277|PMID:16014636|PMID:17576681|PMID:17942903|PMID:19457929|PMID:20301661|PMID:20712882|PMID:21103832|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23117110|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26138366|PMID:26795104|PMID:27477328|PMID:27535533|PMID:27993330|PMID:28492532|PMID:28677221|PMID:29152901|PMID:29296277|PMID:29706350|PMID:30528446|PMID:30617281|PMID:31336731|PMID:32350270|PMID:32442409|PMID:33077954|PMID:36453251|PMID:39694930|PMID:9241266|PMID:9536098|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:10866302|PMID:16704655|PMID:17942903|PMID:19457929|PMID:20301661|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21956414|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26138366|PMID:26246517|PMID:27477328|PMID:27514801|PMID:27993330|PMID:28492532|PMID:28523199|PMID:28912153|PMID:28966033|PMID:29296277|PMID:29706350|PMID:29785012|PMID:30617281|PMID:32003824|PMID:32350270|PMID:32442409|PMID:33077954|PMID:35195909|PMID:39694930|PMID:9288766|PMID:9600246|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9002969	Nevus		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus	PMID:10866302|PMID:17526800|PMID:18626099|PMID:18986487|PMID:19265751|PMID:20533527|PMID:21828076|PMID:23335809|PMID:23633456|PMID:24033266|PMID:24721394|PMID:25669429|PMID:25741868|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29706350|PMID:32350270|PMID:35101336|PMID:37307869|PMID:9619835
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9003126	Hallucinations		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:69119	D	RGD:9068941	20250116	RGD		DNA:amplification	PMID:17727244|REF_RGD_ID:2292501
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:69119	D	RGD:9068941	20250116	RGD		protein:decreased expression:uterine cervix	PMID:17672936|REF_RGD_ID:2298701
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9003700	Tracheobronchomalacia		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tracheobronchomalacia	PMID:21828076|PMID:22266152|PMID:22595938|PMID:25741868|PMID:26504226|PMID:28195393|PMID:28492532|PMID:29706350
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9003760	Myalgia		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:21828076|PMID:22266152|PMID:22595938|PMID:25741868|PMID:26504226|PMID:28195393|PMID:28492532|PMID:29706350
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9003816	Macrocephaly		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macrocephaly | ClinVar Annotator: match by term: Megalencephaly | ClinVar Annotator: match by term: macrocephaly	PMID:10076877|PMID:10400993|PMID:10555148|PMID:10772390|PMID:10866302|PMID:11156408|PMID:11886535|PMID:12844284|PMID:12938083|PMID:14566704|PMID:14711368|PMID:15211648|PMID:16199547|PMID:16506206|PMID:17213812|PMID:17324556|PMID:17526800|PMID:17873119|PMID:17873882|PMID:17942903|PMID:18626099|PMID:18757403|PMID:18781614|PMID:18986487|PMID:19265751|PMID:19340001|PMID:19457929|PMID:19458356|PMID:20301661|PMID:20533527|PMID:20600018|PMID:20685300|PMID:20926450|PMID:21194675|PMID:21659347|PMID:21828076|PMID:21956414|PMID:22252256|PMID:22261759|PMID:22266152|PMID:22491738|PMID:22595938|PMID:23335809|PMID:23633456|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24379037|PMID:24721394|PMID:24766807|PMID:24778394|PMID:25263454|PMID:25288137|PMID:25429968|PMID:25448479|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25875300|PMID:26246517|PMID:26467025|PMID:26504226|PMID:26534844|PMID:26633542|PMID:26681312|PMID:26773036|PMID:26845104|PMID:27477328|PMID:27531073|PMID:27535533|PMID:27993330|PMID:28013114|PMID:28195393|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28677221|PMID:28726821|PMID:29108454|PMID:29273943|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29720545|PMID:29785012|PMID:29970488|PMID:30311380|PMID:30680046|PMID:31006514|PMID:31130284|PMID:31447099|PMID:31970404|PMID:32350270|PMID:32959437|PMID:33208383|PMID:33911214|PMID:34793697|PMID:35101336|PMID:35227301|PMID:35305867|PMID:35982159|PMID:36270489|PMID:36833222|PMID:36988593|PMID:37035742|PMID:37307869|PMID:38335860|PMID:38645101|PMID:9259288|PMID:9467011|PMID:9600246|PMID:9619835
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9003936	Cardiomegaly		ISO	RGD:61995	D	RGD:9068941	20200609	RGD			PMID:16188065|REF_RGD_ID:2292549
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9003936	Cardiomegaly		ISO	RGD:62287	D	RGD:9068941	20200609	RGD			PMID:11448956|REF_RGD_ID:1581282
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:61995	D	RGD:9068941	20200609	RGD			PMID:17239858|REF_RGD_ID:2292538
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19038262
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9004118	Experimental Melanoma		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29179997
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9004217	Nerve Sheath Neoplasms	disease_progression	ISO	RGD:62287	D	RGD:9068941	20200609	RGD			PMID:22700876|REF_RGD_ID:12859040
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9004265	Endometrioid Carcinomas		ISO	RGD:69119	D	RGD:9068941	20200609	RGD		DNA:loss of heterozygosity, mutations:multiple (human)	PMID:11156411|REF_RGD_ID:12802357
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9004265	Endometrioid Carcinomas		ISO	RGD:69119	D	RGD:9068941	20200609	RGD		DNA:mutations: :multiple	PMID:17418409|REF_RGD_ID:2289817
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9004268	Uterine Neoplasms		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neoplasm of uterus	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:69119	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:62287	D	RGD:9068941	20210625	RGD			PMID:21771908|REF_RGD_ID:127285609
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9004538	Hearing Loss		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:23161105|PMID:24728327|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26800850|PMID:27720647|PMID:28135145|PMID:28492532|PMID:29785012|PMID:30311380|PMID:33887726|PMID:34793697|PMID:35264596|PMID:35534704|PMID:35980532|PMID:38311546|PMID:38645101|PMID:39402389
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:69119	D	RGD:9068941	20200609	RGD		DNA:loss of heterozygosity:cds: (human)	PMID:10793080|REF_RGD_ID:12832747
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9004547	Thyroid Neoplasms	severity	ISO	RGD:69119	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:thyroid gland (human)	PMID:12203792|REF_RGD_ID:12832749
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21994956
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:61995	D	RGD:9068941	20200609	RGD			PMID:15929827|REF_RGD_ID:1581281
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9004616	Left Ventricular Hypertrophy	treatment	ISO	RGD:61995	D	RGD:9068941	20200609	RGD		associated with Arteriovenous Fistula	PMID:22609523|REF_RGD_ID:12801498
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9004866	Ataxia		ISO	RGD:62287	D	RGD:9068941	20200609	RGD			PMID:11726926|REF_RGD_ID:1302554
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9005062	Prostate Cancer, Hereditary, 1		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Prostate cancer, hereditary, 1	PMID:17942903|PMID:21194675|PMID:21828076|PMID:22832581|PMID:24721394|PMID:25527629|PMID:25741868|PMID:27993330|PMID:28492532|PMID:28726821|PMID:29533785|PMID:29706350|PMID:29785012|PMID:30886105|PMID:31594918|PMID:32350270|PMID:32610572|PMID:34184188|PMID:35101336|PMID:9467011
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9005077	Joint Instability		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23161105|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24728327|PMID:24766807|PMID:25186627|PMID:25741868|PMID:26138366|PMID:26467025|PMID:26580448|PMID:26800850|PMID:27477328|PMID:27720647|PMID:27993330|PMID:28135145|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:30617281|PMID:30680046|PMID:32350270|PMID:32442409|PMID:33077954|PMID:33887726|PMID:34793697|PMID:35264596|PMID:35534704|PMID:35980532|PMID:36833222|PMID:38311546|PMID:38645101|PMID:39402389|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17909629|PMID:27980214
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9005233	Experimental Mammary Neoplasms	onset	ISO	RGD:62287	D	RGD:9068941	20200609	RGD			PMID:18381417|REF_RGD_ID:2292496
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9005369	Hepatomegaly		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:21194675|PMID:21659347|PMID:24375884|PMID:25669429|PMID:25741868|PMID:26633542|PMID:27531073|PMID:28492532|PMID:29273943|PMID:29608813|PMID:29706350|PMID:32350270|PMID:35227301
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9005396	Intimal Hyperplasia	ameliorates	ISO	RGD:69119	D	RGD:9068941	20210625	RGD		associated with Carotid Artery Injuries, human gene in a rat model	PMID:15569824|REF_RGD_ID:127285607
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9005466	Language Development Disorders		ISO	RGD:69119	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:9286463
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9005532	Muscle Weakness		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:21828076|PMID:22266152|PMID:22595938|PMID:25741868|PMID:26504226|PMID:28195393|PMID:28492532|PMID:29706350
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer | ClinVar Annotator: match by term: Hereditary Prostate Cancer | ClinVar Annotator: match by term: Hereditary prostate cancer	PMID:10076877|PMID:10234502|PMID:10400993|PMID:10866302|PMID:11051241|PMID:11071384|PMID:11156408|PMID:11332402|PMID:12844284|PMID:14566704|PMID:15492994|PMID:16014636|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17873119|PMID:17942903|PMID:18080326|PMID:19457929|PMID:20600018|PMID:20926450|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22261759|PMID:22381246|PMID:22970944|PMID:23066114|PMID:23161105|PMID:23335809|PMID:23934111|PMID:24033266|PMID:24055113|PMID:24136893|PMID:24375884|PMID:24468202|PMID:24728327|PMID:24778394|PMID:25132236|PMID:25186627|PMID:25288137|PMID:25637381|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26246517|PMID:26467025|PMID:26580448|PMID:26633542|PMID:26681312|PMID:26800850|PMID:26898890|PMID:27477328|PMID:27514801|PMID:27531073|PMID:27720647|PMID:27993330|PMID:28008555|PMID:28135145|PMID:28418444|PMID:28492532|PMID:28677221|PMID:28724667|PMID:28726821|PMID:29273943|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29785012|PMID:29970488|PMID:30311380|PMID:31006514|PMID:31567591|PMID:32162695|PMID:32350270|PMID:32366478|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33471991|PMID:33887726|PMID:34793697|PMID:35101336|PMID:35227301|PMID:35241692|PMID:35264596|PMID:35534704|PMID:35931053|PMID:35980532|PMID:36988593|PMID:38311546|PMID:38645101|PMID:39402389|PMID:9259288|PMID:9467011|PMID:9536098|PMID:9600246
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:10866302|PMID:17526800|PMID:17942903|PMID:18626099|PMID:18986487|PMID:19265751|PMID:19457929|PMID:20301661|PMID:20533527|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23399955|PMID:23470840|PMID:23633456|PMID:24033266|PMID:24375884|PMID:24436047|PMID:24721394|PMID:24766807|PMID:25669429|PMID:25741868|PMID:26138366|PMID:26504226|PMID:26633542|PMID:27477328|PMID:27531073|PMID:27993330|PMID:28195393|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29273943|PMID:29608813|PMID:29706350|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:35101336|PMID:35227301|PMID:37307869|PMID:39694930|PMID:9619835|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9005612	Endometrial Intraepithelial Neoplasia		ISO	RGD:69119	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Atypical endometrial hyperplasia	
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9006494	Follicular Thyroid Cancer		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 2 | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2	PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:31006514|PMID:32350270|PMID:32885271|PMID:33471991|PMID:34793697|PMID:35931053|PMID:38645101
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:10866302|PMID:12085208|PMID:17873882|PMID:17942903|PMID:19340001|PMID:19457929|PMID:19458356|PMID:19829307|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22491738|PMID:22595938|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:24436047|PMID:24766807|PMID:24809327|PMID:25741868|PMID:26138366|PMID:26773036|PMID:27221918|PMID:27477328|PMID:27993330|PMID:28492532|PMID:28755079|PMID:29373119|PMID:29785012|PMID:30287823|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9006617	Fatigue		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:21828076|PMID:22266152|PMID:22595938|PMID:25741868|PMID:26504226|PMID:28195393|PMID:28492532|PMID:29706350
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9006743	Spasm		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:25741868
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9006878	Exercise Intolerance		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exercise intolerance	PMID:21828076|PMID:22266152|PMID:22595938|PMID:25741868|PMID:26504226|PMID:28195393|PMID:28492532|PMID:29706350
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194575|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26362251|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29043291|PMID:29048666|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30720243|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31336731|PMID:31594918|PMID:32037394|PMID:32190315|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33077954|PMID:33624935|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521|PMID:27428751
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27428751|PMID:27477328|PMID:27481051|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29048666|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30720243|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31594918|PMID:31871109|PMID:32037394|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33077954|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832032|PMID:9856571|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11684570|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27157322|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29048666|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30720243|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31594918|PMID:31871109|PMID:32037394|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33077954|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832032|PMID:9856571|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11684570|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31871109|PMID:32037394|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33624935|PMID:33876391|PMID:33887726|PMID:34625746|PMID:35227301|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33624935|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34492006|PMID:34625746|PMID:35227301|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34492006|PMID:34625746|PMID:35227301|PMID:35241692|PMID:36681873|PMID:36988593|PMID:37336910|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15492994|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34492006|PMID:34625746|PMID:35227301|PMID:35241692|PMID:36681873|PMID:36988593|PMID:37336910|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15492994|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25326637|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29945567|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33532886|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34492006|PMID:34625746|PMID:35227301|PMID:35241692|PMID:36681873|PMID:36988593|PMID:37336910|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15492994|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29945567|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33532886|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34492006|PMID:34625746|PMID:35227301|PMID:35241692|PMID:36681873|PMID:36988593|PMID:37336910|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11051241|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15492994|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17213812|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18626099|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24901346|PMID:24905788|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27147599|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27829222|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29945567|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31609537|PMID:31664961|PMID:31712222|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32378608|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33532886|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34492006|PMID:34625746|PMID:35227301|PMID:35241692|PMID:35399540|PMID:36681873|PMID:36988593|PMID:37090027|PMID:37336910|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9616126|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10051160|PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11051241|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11906179|PMID:11918710|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15492994|PMID:15531530|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17213812|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18626099|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24901346|PMID:24905788|PMID:25132236|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26166433|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:26960334|PMID:27087592|PMID:27147599|PMID:27157322|PMID:27168869|PMID:27221918|PMID:27324988|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27829222|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29625052|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29945567|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31232187|PMID:31332282|PMID:31336731|PMID:31427284|PMID:31567591|PMID:31594918|PMID:31609537|PMID:31664961|PMID:31712222|PMID:31871109|PMID:31970404|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32373528|PMID:32378608|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32670512|PMID:32832836|PMID:32885271|PMID:32959437|PMID:32980694|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33532886|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33747896|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34326862|PMID:34386506|PMID:34492006|PMID:34518631|PMID:34625746|PMID:34906515|PMID:34943931|PMID:35089076|PMID:35172517|PMID:35227301|PMID:35241692|PMID:35264596|PMID:35338148|PMID:35399540|PMID:35723418|PMID:35931053|PMID:36175890|PMID:36681873|PMID:36988593|PMID:37090027|PMID:37336910|PMID:37373496|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9616126|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10051160|PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11051241|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11906179|PMID:11918710|PMID:11948419|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15492994|PMID:15531530|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16088943|PMID:16199547|PMID:16424003|PMID:16506206|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17213812|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18626099|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22587530|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23319441|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23860656|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24901346|PMID:24905788|PMID:25132236|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25326637|PMID:25336918|PMID:25363760
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25554686|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26166433|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:26960334|PMID:27087592|PMID:27147599|PMID:27157322|PMID:27168869|PMID:27221918|PMID:27324988|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27829222|PMID:27878467|PMID:27884173|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28454995|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29263802|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29735527|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29945567|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31232187|PMID:31332282|PMID:31336731|PMID:31427284|PMID:31548229|PMID:31567591|PMID:31594918|PMID:31609537|PMID:31636093|PMID:31664961|PMID:31674007|PMID:31712222|PMID:31871109|PMID:31970404|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32162846|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32373528|PMID:32378608|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32670512|PMID:32832836|PMID:32885271|PMID:32923864|PMID:32959437|PMID:32980694|PMID:33077954|PMID:33083010|PMID:33083717|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33532886|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33747896|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34326862|PMID:34386506|PMID:34492006|PMID:34518631|PMID:34625746|PMID:34661323|PMID:34906515|PMID:34943931|PMID:35089076|PMID:35172517|PMID:35227301|PMID:35241692|PMID:35264596|PMID:35338148|PMID:35352876|PMID:35399540|PMID:35723418|PMID:35931053|PMID:35982159|PMID:36175890|PMID:36270489|PMID:36681873|PMID:36988593|PMID:37035742|PMID:37090027|PMID:37336910|PMID:37373496|PMID:37673932|PMID:38028594|PMID:38311546|PMID:38546160|PMID:7728760|PMID:792966|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9265751|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9616126|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10051160|PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400703|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11051241|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11332402|PMID:11395408|PMID:1147684|PMID:11476841|PMID:11494117|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11906179|PMID:11918710|PMID:11948419|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15372512|PMID:15492994|PMID:15531530|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16088943|PMID:16199547|PMID:16424003|PMID:16506206|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17213812|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18626099|PMID:18669439|PMID:18716620|PMID:18757403|PMID:18759867|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19956187|PMID:19968660|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22587530|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23319441|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23860656|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24901346|PMID:24905788|PMID:25132236|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25326637|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25554686|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:25937288|PMID:25944380|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26166433|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26633542|PMID:26637798|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:26960334|PMID:27087592|PMID:27147599|PMID:27157322|PMID:27168869|PMID:27221918|PMID:27324988|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27829222|PMID:27878467|PMID:27884173|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28454995|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29152901|PMID:29263802|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29625052|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29735527|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29945567|PMID:29970488|PMID:30181857|PMID:30212483|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30680046|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31232187|PMID:31332282|PMID:31336731|PMID:31427284|PMID:31548229|PMID:31567591|PMID:31594918|PMID:31609537|PMID:31636093|PMID:31664961|PMID:31674007|PMID:31712222|PMID:31871109|PMID:31970404|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32162846|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32373528|PMID:32378608|PMID:32442409|PMID:32461654|PMID:32506314|PMID:32566746|PMID:32664367|PMID:32670512|PMID:32832836|PMID:32885271|PMID:32923864|PMID:32959437|PMID:32980694|PMID:33077954|PMID:33083010|PMID:33083717|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33532886|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33747896|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34386506|PMID:34492006|PMID:34518631|PMID:34625746|PMID:34661323|PMID:34793697|PMID:34906515|PMID:34943931|PMID:35089076|PMID:35102303|PMID:35172517|PMID:35227301|PMID:35241692|PMID:35264596|PMID:35278038|PMID:35338148|PMID:35352876|PMID:35399540|PMID:35534676|PMID:35723418|PMID:35780606|PMID:35888045|PMID:35931053|PMID:35971940|PMID:35982159|PMID:36175890|PMID:36270489|PMID:36451132|PMID:36453251|PMID:36681873|PMID:36833222|PMID:36974006|PMID:36988593|PMID:37035742|PMID:37090027|PMID:37307869|PMID:37336910|PMID:37373496|PMID:37673932|PMID:37692099|PMID:38028594|PMID:38311546|PMID:38335860|PMID:38546160|PMID:38645101|PMID:39825153|PMID:7728760|PMID:792966|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9265751|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9600246|PMID:9616126|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10051160|PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400703|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11051241|PMID:11052475|PMID:11058880|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11332402|PMID:11395408|PMID:1147684|PMID:11476841|PMID:11494117|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11906179|PMID:11918710|PMID:11948419|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14711368|PMID:14976311|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15372512|PMID:15492994|PMID:15531530|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16088943|PMID:16199547|PMID:16506206|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17213812|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18626099|PMID:18669439|PMID:18716620|PMID:18757403|PMID:18759867|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19956187|PMID:19968660|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23319441|PMID:23335809|PMID:23349303|PMID:23361946|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23860656|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:23949151|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24901346|PMID:24905788|PMID:25132236|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25326637|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25554686|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26124082|PMID:26157835|PMID:26166433|PMID:26185318|PMID:26216063|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26350204|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26633542|PMID:26637798|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:26960334|PMID:27087592|PMID:27147599|PMID:27157322|PMID:27168869|PMID:27221918|PMID:27324988|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27829222|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28454995|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29152901|PMID:29263802|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29625052|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29735527|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29805648|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29945567|PMID:29970488|PMID:30181857|PMID:30212483|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30680046|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31130284|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31220904|PMID:31232187|PMID:31332282|PMID:31336731|PMID:31427284|PMID:31548229|PMID:31567591|PMID:31594918|PMID:31609537|PMID:31636093|PMID:31664961|PMID:31674007|PMID:31712222|PMID:31871109|PMID:31970404|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32373528|PMID:32378608|PMID:32442409|PMID:32461654|PMID:32506314|PMID:32566746|PMID:32664367|PMID:32670512|PMID:32832836|PMID:32885271|PMID:32923864|PMID:32959437|PMID:32980694|PMID:33077954|PMID:33083010|PMID:33083717|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33532886|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33747896|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33879063|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34326862|PMID:34386506|PMID:34492006|PMID:34518631|PMID:34625746|PMID:34661323|PMID:34793697|PMID:34906515|PMID:34943931|PMID:35089076|PMID:35102303|PMID:35106660|PMID:35227301|PMID:35241692|PMID:35264596|PMID:35278038|PMID:35338148|PMID:35352876|PMID:35399540|PMID:35534676|PMID:35640862|PMID:35723418|PMID:35780606|PMID:35888045|PMID:35931053|PMID:35971940|PMID:35982159|PMID:36175890|PMID:36270489|PMID:36413997|PMID:36451132|PMID:36453251|PMID:36619507|PMID:36681873|PMID:36833222|PMID:36959127|PMID:36974006|PMID:36988593|PMID:37035742|PMID:37090027|PMID:37307869|PMID:37336910|PMID:37373496|PMID:37673932|PMID:37692099|PMID:38028594|PMID:38311546|PMID:38335860|PMID:38546160|PMID:38645101|PMID:39301391|PMID:39825153|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9265751|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:947011|PMID:9536098|PMID:9600246|PMID:9616126|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10051160|PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400703|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11051241|PMID:11052475|PMID:11058880|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11332402|PMID:11395408|PMID:1147684|PMID:11476841|PMID:11494117|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11906179|PMID:11918710|PMID:11948419|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14711368|PMID:14976311|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15372512|PMID:15492994|PMID:15531530|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16088943|PMID:16199547|PMID:16506206|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17213812|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18626099|PMID:18669439|PMID:18716620|PMID:18757403|PMID:18759867|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19956187|PMID:19968660|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23319441|PMID:23335809|PMID:23349303|PMID:23361946|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23860656|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:23949151|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24901346|PMID:24905788|PMID:25132236|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25326637|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25554686|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26099045|PMID:26124082|PMID:26157835|PMID:26166433|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26350204|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26633542|PMID:26637798|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:26960334|PMID:27087592|PMID:27147599|PMID:27157322|PMID:27168869|PMID:27221918|PMID:27324988|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27829222|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28454995|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29152901|PMID:29263802|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29625052|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29735527|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29805648|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29945567|PMID:29970488|PMID:30181857|PMID:30212483|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30680046|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31130284|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31220904|PMID:31232187|PMID:31332282|PMID:31336731|PMID:31427284|PMID:31548229|PMID:31567591|PMID:31594918|PMID:31609537|PMID:31636093|PMID:31664961|PMID:31674007|PMID:31712222|PMID:31871109|PMID:31970404|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32373528|PMID:32378608|PMID:32442409|PMID:32461654|PMID:32506314|PMID:32566746|PMID:32664367|PMID:32670512|PMID:32832836|PMID:32885271|PMID:32923864|PMID:32959437|PMID:32980694|PMID:33077954|PMID:33083010|PMID:33083717|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33532886|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33747896|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33879063|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34326862|PMID:34386506|PMID:34492006|PMID:34518631|PMID:34625746|PMID:34661323|PMID:34793697|PMID:34906515|PMID:34943931|PMID:35089076|PMID:35102303|PMID:35106660|PMID:35172517|PMID:35227301|PMID:35241692|PMID:35264596|PMID:35278038|PMID:35338148|PMID:35352876|PMID:35399540|PMID:35534676|PMID:35640862|PMID:35723418|PMID:35780606|PMID:35888045|PMID:35931053|PMID:35971940|PMID:35982159|PMID:36175890|PMID:36270489|PMID:36413997|PMID:36451132|PMID:36453251|PMID:36619507|PMID:36681873|PMID:36833222|PMID:36959127|PMID:36974006|PMID:36988593|PMID:37035742|PMID:37090027|PMID:37307869|PMID:37336910|PMID:37373496|PMID:37673932|PMID:37692099|PMID:38028594|PMID:38311546|PMID:38335860|PMID:38546160|PMID:38645101|PMID:39301391|PMID:39825153|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9265751|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:947011|PMID:9536098|PMID:9600246|PMID:9616126|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10051160|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10400703|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10606430|PMID:10657643|PMID:10666371|PMID:10698513|PMID:10772829|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:1097835|PMID:11035045|PMID:11051241|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11237521|PMID:11238682|PMID:11332402|PMID:11395408|PMID:1147684|PMID:11476841|PMID:11494117|PMID:11668501|PMID:11875759|PMID:11886535|PMID:11906179|PMID:11918710|PMID:11948419|PMID:12085208|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12808147|PMID:12844284|PMID:12938083|PMID:14675182|PMID:14711368|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15372512|PMID:15492994|PMID:15659546|PMID:15805158|PMID:15920539|PMID:15951562|PMID:16007494|PMID:16014636|PMID:16088943|PMID:16199547|PMID:16506206|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16829519|PMID:16894538|PMID:17013611|PMID:17088437|PMID:17213812|PMID:17218260|PMID:17218261|PMID:17218262|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18626099|PMID:18716620|PMID:18759867|PMID:18781191|PMID:18781614|PMID:18794875|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19265751|PMID:19329485|PMID:19340001|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19956187|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20301661|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20926450|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21417916|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21878536|PMID:21956414|PMID:22261759|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22492711|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23319441|PMID:23335809|PMID:23349303|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23860656|PMID:23886400|PMID:23888040|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24055113|PMID:24099866|PMID:24120142|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24436047|PMID:24468202|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656806|PMID:24721394|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24905788|PMID:25157968|PMID:25219808|PMID:25246819|PMID:25263454|PMID:25288137|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25554686|PMID:25637381|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26138366|PMID:26166433|PMID:26216063|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26350204|PMID:26418532|PMID:26443480|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26633542|PMID:26637798|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26919320|PMID:27087592|PMID:27147599|PMID:27157322|PMID:27168869|PMID:27221918|PMID:27226612|PMID:27405757|PMID:27428751|PMID:27477328|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27993330|PMID:28013114|PMID:28086757|PMID:28152038|PMID:28191890|PMID:28195393|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28289760|PMID:28454995|PMID:28475857|PMID:28492532|PMID:28513612|PMID:28526761|PMID:28600779|PMID:28677221|PMID:28724667|PMID:28726821|PMID:28755079|PMID:28758351|PMID:28774669
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28912153|PMID:28966033|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29108454|PMID:29152901|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29371908|PMID:29373119|PMID:29496690|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29735527|PMID:29752200|PMID:29763623|PMID:29785012|PMID:29802247|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30039884|PMID:30181857|PMID:30212483|PMID:30287823|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30617281|PMID:30680046|PMID:30861589|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31130284|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31433956|PMID:31548229|PMID:31594918|PMID:31609537|PMID:31636093|PMID:31664961|PMID:31674007|PMID:31712222|PMID:31871109|PMID:31970404|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32157856|PMID:32162695|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32471850|PMID:32506314|PMID:32610572|PMID:32642724|PMID:32670512|PMID:32832836|PMID:32885271|PMID:32923864|PMID:32959437|PMID:33077954|PMID:33083717|PMID:33152507|PMID:33208383|PMID:33471991|PMID:33532886|PMID:33624935|PMID:33723755|PMID:33767182|PMID:33801456|PMID:33876327|PMID:33876391|PMID:33887726|PMID:34026625|PMID:34063168|PMID:34131647|PMID:34184188|PMID:34185076|PMID:34268892|PMID:34386506|PMID:34492006|PMID:34625746|PMID:34661323|PMID:34793697|PMID:34906515|PMID:34952640|PMID:35101336|PMID:35102303|PMID:35195909|PMID:35227301|PMID:35241692|PMID:35264596|PMID:35352876|PMID:35399540|PMID:35534676|PMID:35640862|PMID:35780606|PMID:35888045|PMID:35931053|PMID:35982159|PMID:36066546|PMID:36270489|PMID:36350923|PMID:36413997|PMID:36453251|PMID:36619507|PMID:36833222|PMID:36959127|PMID:36988593|PMID:37035742|PMID:37307869|PMID:37336910|PMID:37398799|PMID:37596007|PMID:38028594|PMID:38311565|PMID:38335860|PMID:38645101|PMID:39301391|PMID:39358013|PMID:39434542|PMID:39694930|PMID:39825153|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9600246|PMID:9616126|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10051160|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10400703|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10666371|PMID:10698513|PMID:10772829|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:1097835|PMID:11035045|PMID:11051241|PMID:11071384|PMID:11156408|PMID:11237521|PMID:11238682|PMID:11332402|PMID:11395408|PMID:1147684|PMID:11476841|PMID:11494117|PMID:11668501|PMID:11875759|PMID:11886535|PMID:11906179|PMID:11918710|PMID:11948419|PMID:12085208|PMID:12297295|PMID:12414663|PMID:12808147|PMID:12844284|PMID:12938083|PMID:14566704|PMID:14675182|PMID:14711368|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15372512|PMID:15492994|PMID:15659546|PMID:15805158|PMID:15920539|PMID:15951562|PMID:16007494|PMID:16014636|PMID:16088943|PMID:16199547|PMID:16506206|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16829519|PMID:16894538|PMID:17013611|PMID:17043057|PMID:17213812|PMID:17218260|PMID:17218261|PMID:17218262|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17873119|PMID:17873882|PMID:17928923|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18626099|PMID:18716620|PMID:18757403|PMID:18759867|PMID:18781191|PMID:18781614|PMID:18794875|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19265751|PMID:19329485|PMID:19340001|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19956187|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20301661|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20926450|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22261759|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22595938|PMID:22628360|PMID:22911484|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23319441|PMID:23335809|PMID:23349303|PMID:23382303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23633456|PMID:23695273|PMID:23860656|PMID:23886400|PMID:23888040|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24055113|PMID:24099866|PMID:24120142|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24436047|PMID:24468202|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656806|PMID:24705250|PMID:24705252|PMID:24705254|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25132236|PMID:25186627|PMID:25219808|PMID:25246819|PMID:25263454|PMID:25288137|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25554686|PMID:25637381|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26124082|PMID:26138366|PMID:26166433|PMID:26216063|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26350204|PMID:26418532|PMID:26443480|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26633542|PMID:26637798|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27147599|PMID:27157322|PMID:27168869|PMID:27221918|PMID:27226612|PMID:27405757|PMID:27477328|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27993330|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28191890|PMID:28195393|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28289760|PMID:28418444|PMID:28454995|PMID:28475857|PMID:28492532|PMID:28513612
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28523199|PMID:28526761|PMID:28600779|PMID:28677221|PMID:28724667|PMID:28726821|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28792659|PMID:28912153|PMID:28966033|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29108454|PMID:29152901|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29373119|PMID:29496690|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29735527|PMID:29752200|PMID:29763623|PMID:29785012|PMID:29802247|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30212483|PMID:30287823|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30528446|PMID:30617281|PMID:30680046|PMID:30861589|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31130284|PMID:31149344|PMID:31185301|PMID:31332282|PMID:31336731|PMID:31433956|PMID:31447099|PMID:31548229|PMID:31567591|PMID:31594918|PMID:31609537|PMID:31636093|PMID:31664961|PMID:31674007|PMID:31712222|PMID:31871109|PMID:31970404|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32157856|PMID:32162695|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32471850|PMID:32506314|PMID:32555164|PMID:32610572|PMID:32642724|PMID:32670512|PMID:32832836|PMID:32885271|PMID:32923864|PMID:32959437|PMID:33077954|PMID:33083717|PMID:33152507|PMID:33208383|PMID:33471991|PMID:33532886|PMID:33624935|PMID:33723755|PMID:33767182|PMID:33801456|PMID:33876327|PMID:33876391|PMID:33887726|PMID:34026625|PMID:34063168|PMID:34131647|PMID:34184188|PMID:34185076|PMID:34386506|PMID:34492006|PMID:34625746|PMID:34661323|PMID:34793697|PMID:34906515|PMID:34952640|PMID:35101336|PMID:35102303|PMID:35195909|PMID:35227301|PMID:35241692|PMID:35264596|PMID:35352876|PMID:35399540|PMID:35534676|PMID:35534704|PMID:35640862|PMID:35780606|PMID:35931053|PMID:35980532|PMID:35982159|PMID:36066546|PMID:36270489|PMID:36350923|PMID:36413997|PMID:36453251|PMID:36619507|PMID:36833222|PMID:36959127|PMID:36988593|PMID:37035742|PMID:37307869|PMID:37336910|PMID:37398799|PMID:37596007|PMID:38028594|PMID:38311546|PMID:38311565|PMID:38335860|PMID:38645101|PMID:39301391|PMID:39358013|PMID:39402389|PMID:39694930|PMID:39825153|PMID:60212|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9600246|PMID:9616126|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007209	Somatic Meningioma		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningioma, somatic	PMID:12085208|PMID:17873882|PMID:19340001|PMID:19458356|PMID:19829307|PMID:22491738|PMID:23349303|PMID:23442912|PMID:24809327|PMID:25741868|PMID:26773036|PMID:27221918|PMID:28492532|PMID:28755079|PMID:29373119|PMID:29785012|PMID:30287823
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007284	Precocious Puberty		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007367	Septic Peritonitis	ameliorates	ISO	RGD:62287	D	RGD:9068941	20210625	RGD		associated with Escherichia Coli Infections	PMID:21521784|REF_RGD_ID:127285602
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007402	Gliosis		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gliosis	PMID:20301661|PMID:25741868|PMID:28492532|PMID:29706350|PMID:30680046|PMID:36833222
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007417	Pseudomonas Infections	exacerbates	ISO	RGD:62287	D	RGD:9068941	20210625	RGD			PMID:29246444|REF_RGD_ID:127285608
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28823542
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007650	Unconsciousness		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Loss of consciousness	PMID:25741868
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18759867
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007661	Dwarfism		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007692	Insulin Resistance		ISO	RGD:61995	D	RGD:9068941	20200609	RGD		protein:increased expression, decreased acetylation:liver	PMID:18385463|REF_RGD_ID:2292521
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007692	Insulin Resistance		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18303120
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007692	Insulin Resistance		ISO	RGD:69119	D	RGD:9068941	20210625	RGD		protein:increased activity:liver (human)	PMID:24367090|REF_RGD_ID:127285595
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007701	Central Nervous System Neoplasms		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neoplasm of the central nervous system	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12888921|PMID:16402032|PMID:16804899|PMID:9326929
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:69119	D	RGD:9068941	20200609	RGD		DNA:loss of heterozygosity:cds: (human)	PMID:9765621|REF_RGD_ID:12832746
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:69119	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:9354433|REF_RGD_ID:12832753
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007715	Endometrial Neoplasms	severity	ISO	RGD:69119	D	RGD:9068941	20200609	RGD		protein:decreased expression:endometrium	PMID:17317031|REF_RGD_ID:2292506
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19038262
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:62287	D	RGD:9068941	20210625	RGD			PMID:20951693|REF_RGD_ID:127285611
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9008023	Memory Disorders		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:10076877|PMID:10400993|PMID:10866302|PMID:12844284|PMID:14566704|PMID:16704655|PMID:17526800|PMID:17873119|PMID:17942903|PMID:18626099|PMID:18986487|PMID:19265751|PMID:19457929|PMID:20533527|PMID:20926450|PMID:21194675|PMID:21659347|PMID:21828076|PMID:21956414|PMID:22261759|PMID:23335809|PMID:23633456|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24721394|PMID:24766807|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:26467025|PMID:26633542|PMID:26681312|PMID:27477328|PMID:27514801|PMID:27531073|PMID:27993330|PMID:28475857|PMID:28492532|PMID:28523199|PMID:28526761|PMID:28677221|PMID:28912153|PMID:28966033|PMID:29273943|PMID:29296277|PMID:29608813|PMID:29706350|PMID:29785012|PMID:30311380|PMID:32003824|PMID:32350270|PMID:32959437|PMID:35101336|PMID:35195909|PMID:35227301|PMID:36988593|PMID:37035742|PMID:37307869|PMID:9259288|PMID:9288766|PMID:9467011|PMID:9600246|PMID:9619835
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9008090	Chlamydiaceae Infections		ISO	RGD:62287	D	RGD:9068941	20210625	RGD		associated with Experimental Allergic Asthma;mRNA:decreased expression:lung (mouse)	PMID:27448447|REF_RGD_ID:41404696
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:69119	D	RGD:9068941	20210625	RGD		associated with gastritis;protein:increased phosphorylation:stomach (human)	PMID:26376616|REF_RGD_ID:127285599
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9008138	Ductal Carcinoma		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29295717
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9008237	Hemimegalencephaly		ISO	RGD:69119	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hemimegalencephaly	PMID:25741868
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14574156|PMID:17427195|PMID:18759867|PMID:19265751|PMID:19321504|PMID:9286463
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast neoplasm	PMID:21194675|PMID:25741868|PMID:28492532|PMID:9467011
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69119	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11684570|PMID:11685670|PMID:14518070|PMID:17392703|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27959697|PMID:28492532|PMID:28526761|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69119	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11685670|PMID:11918710|PMID:14518070|PMID:17392703|PMID:18558293|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24778394|PMID:25157968|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:25980754|PMID:27477328|PMID:28492532|PMID:28526761|PMID:29706350|PMID:29785012|PMID:30287823|PMID:30614812|PMID:32238909|PMID:32350270|PMID:32832836|PMID:32885271|PMID:33077954|PMID:33600059|PMID:34184188|PMID:9399897|PMID:9467011
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:31006514|PMID:32350270|PMID:32885271|PMID:33471991|PMID:34184188|PMID:34793697|PMID:35931053|PMID:38645101
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9009116	Urinary Bladder Neoplasm		ISO	RGD:69119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bladder neoplasm | ClinVar Annotator: match by term: Urinary Bladder Neoplasms	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:20712882|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:29706350|PMID:30617281|PMID:31079897|PMID:32350270|PMID:32442409|PMID:33077954|PMID:35227301|PMID:39694930|PMID:9256433|PMID:9811831|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9256	colorectal cancer		ISO	RGD:69119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:10866302|PMID:11051241|PMID:15355975|PMID:16199547|PMID:17526801|PMID:21194675|PMID:21473780|PMID:22810696|PMID:25363760|PMID:25741868|PMID:25875300|PMID:26302789|PMID:27824329|PMID:27993330|PMID:28191890|PMID:28492532|PMID:28677221|PMID:29706350|PMID:31332282|PMID:36988593|PMID:9467011
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:69119	D	RGD:9068941	20210625	RGD		protein:increased expression:colorectum, cytoplasm (human)	PMID:27661110|REF_RGD_ID:127285614
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9351	diabetes mellitus		ISO	RGD:61995	D	RGD:9068941	20200609	RGD		protein:increased expression, increased phosphorylation:inferior vena cava	PMID:16961925|REF_RGD_ID:2292543
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:936	brain disease		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9408	acute myocardial infarction		ISO	RGD:61995	D	RGD:9068941	20210625	RGD		mRNA:decreased expression:heart left ventricle (rat)	PMID:26973267|REF_RGD_ID:11526378
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9408	acute myocardial infarction		ISO	RGD:69119	D	RGD:9068941	20231026	RGD		RNA:increased expression:serum	PMID:32595526|REF_RGD_ID:401851053
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9408	acute myocardial infarction	ameliorates	ISO	RGD:62287	D	RGD:9068941	20230202	RGD			PMID:29990866|REF_RGD_ID:155882565
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9409	diabetes insipidus		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9452	steatotic liver disease		ISO	RGD:61995	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:18166358|REF_RGD_ID:2292522
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9452	steatotic liver disease		ISO	RGD:62287	D	RGD:9068941	20200609	RGD			PMID:15199412|REF_RGD_ID:1302555
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9452	steatotic liver disease		ISO	RGD:62287	D	RGD:9068941	20220825	MouseDO		OMIM:228100	
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9452	steatotic liver disease		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27022031
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9452	steatotic liver disease		ISO	RGD:69119	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:18166358|REF_RGD_ID:2292522
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9834	hyperopia		ISO	RGD:69119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9884	muscular dystrophy	treatment	ISO	RGD:62287	D	RGD:9068941	20200609	RGD			PMID:24789910|REF_RGD_ID:12859039
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9923	developmental coordination disorder		ISO	RGD:69119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9286463
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:62287	D	RGD:9068941	20220825	MouseDO		OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545	
8706988	Pten	phosphatase and tensin homolog	gene	DOID:9970	obesity		ISO	RGD:69119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974
8707008	Nfix	nuclear factor I X	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:69161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8707008	Nfix	nuclear factor I X	gene	DOID:0050858	Marshall-Smith syndrome		ISO	RGD:69161	D	RGD:7240710	20180130	OMIM			
8707008	Nfix	nuclear factor I X	gene	DOID:0050858	Marshall-Smith syndrome		ISO	RGD:69161	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MARSHALL-SMITH SYNDROME | ClinVar Annotator: match by term: Marshall-Smith syndrome | ClinVar Annotator: match by term: NFIX-related condition	PMID:17576681|PMID:20673863|PMID:20949508|PMID:24924640|PMID:25118028|PMID:25741868|PMID:26193383|PMID:26200704|PMID:28475857|PMID:28492532|PMID:29142766|PMID:29897170|PMID:31036916|PMID:33057194|PMID:33288889|PMID:33767182|PMID:35717370|PMID:35982159|PMID:35997807|PMID:37336770|PMID:9536098
8707008	Nfix	nuclear factor I X	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:69161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707008	Nfix	nuclear factor I X	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:69161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
8707008	Nfix	nuclear factor I X	gene	DOID:0060305	megalocornea		ISO	RGD:69161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megalocornea	PMID:25741868
8707008	Nfix	nuclear factor I X	gene	DOID:0080833	laryngomalacia		ISO	RGD:69161	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
8707008	Nfix	nuclear factor I X	gene	DOID:0112102	Sotos syndrome 2		ISO	RGD:69161	D	RGD:7240710	20180130	OMIM			
8707008	Nfix	nuclear factor I X	gene	DOID:0112102	Sotos syndrome 2		ISO	RGD:69161	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MALAN SYNDROME | ClinVar Annotator: match by term: Malan overgrowth syndrome | ClinVar Annotator: match by term: NFIX-related disorder | ClinVar Annotator: match by term: Sotos syndrome 2	PMID:16199547|PMID:17576681|PMID:20673863|PMID:20949508|PMID:22982744|PMID:24088041|PMID:24375697|PMID:24924640|PMID:25118028|PMID:25590979|PMID:25640679|PMID:25741868|PMID:26193383|PMID:26633545|PMID:26927468|PMID:28333917|PMID:28475857|PMID:28492532|PMID:29142766|PMID:29897170|PMID:31369202|PMID:31751304|PMID:32277047|PMID:33057194|PMID:33288889|PMID:33767182|PMID:35717370|PMID:35982159|PMID:35997807|PMID:36114283|PMID:37336770|PMID:38177409|PMID:9536098
8707008	Nfix	nuclear factor I X	gene	DOID:10534	stomach cancer		ISO	RGD:69161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8707008	Nfix	nuclear factor I X	gene	DOID:1059	intellectual disability		ISO	RGD:69161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:20673863|PMID:25741868|PMID:26193383|PMID:26200704|PMID:28475857
8707008	Nfix	nuclear factor I X	gene	DOID:1059	intellectual disability		ISO	RGD:69161	D	RGD:8554872	20260721	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868
8707008	Nfix	nuclear factor I X	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:69161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8707008	Nfix	nuclear factor I X	gene	DOID:11294	arteriovenous malformation		ISO	RGD:69161	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arteriovenous malformation	PMID:25741868|PMID:28492532|PMID:29897170|PMID:33057194|PMID:33288889|PMID:35717370|PMID:35982159|PMID:35997807
8707008	Nfix	nuclear factor I X	gene	DOID:11383	cryptorchidism		ISO	RGD:69161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
8707008	Nfix	nuclear factor I X	gene	DOID:11782	astigmatism		ISO	RGD:69161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
8707008	Nfix	nuclear factor I X	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:69161	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
8707008	Nfix	nuclear factor I X	gene	DOID:1283	enterocele		ISO	RGD:69161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	
8707008	Nfix	nuclear factor I X	gene	DOID:12835	quadriplegia		ISO	RGD:69161	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spastic tetraplegia	PMID:25741868
8707008	Nfix	nuclear factor I X	gene	DOID:1324	lung cancer		ISO	RGD:69161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8707008	Nfix	nuclear factor I X	gene	DOID:13300	Scheuermann's disease		ISO	RGD:69162	D	RGD:9068941	20220825	MouseDO		OMIM:181440	
8707008	Nfix	nuclear factor I X	gene	DOID:1923	disorder of sexual development		ISO	RGD:69161	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia	PMID:25741868
8707008	Nfix	nuclear factor I X	gene	DOID:2340	craniosynostosis		ISO	RGD:69161	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Trigonocephaly	
8707008	Nfix	nuclear factor I X	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:69161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8707008	Nfix	nuclear factor I X	gene	DOID:540	strabismus		ISO	RGD:69161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8707008	Nfix	nuclear factor I X	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:69161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8707008	Nfix	nuclear factor I X	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69161	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707008	Nfix	nuclear factor I X	gene	DOID:630	genetic disease		ISO	RGD:69161	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20673863|PMID:22301465|PMID:25356970|PMID:25741868|PMID:26193383|PMID:28492532|PMID:29897170|PMID:33057194|PMID:33288889|PMID:33767182|PMID:35717370|PMID:35982159|PMID:35997807|PMID:8910820
8707008	Nfix	nuclear factor I X	gene	DOID:9003816	Macrocephaly		ISO	RGD:69161	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532|PMID:29897170|PMID:33057194|PMID:33288889|PMID:35717370|PMID:35982159|PMID:35997807
8707008	Nfix	nuclear factor I X	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:69161	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8707008	Nfix	nuclear factor I X	gene	DOID:9004507	Hirsutism		ISO	RGD:69161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	
8707008	Nfix	nuclear factor I X	gene	DOID:9005077	Joint Instability		ISO	RGD:69161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8707008	Nfix	nuclear factor I X	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:69161	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
8707008	Nfix	nuclear factor I X	gene	DOID:9005616	Micrognathism		ISO	RGD:69161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	
8707008	Nfix	nuclear factor I X	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:69161	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
8707008	Nfix	nuclear factor I X	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707008	Nfix	nuclear factor I X	gene	DOID:9007284	Precocious Puberty		ISO	RGD:69161	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868
8707008	Nfix	nuclear factor I X	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:69161	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
8707008	Nfix	nuclear factor I X	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:69161	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:29897170|PMID:33057194|PMID:33288889|PMID:35717370|PMID:35982159|PMID:35997807
8707008	Nfix	nuclear factor I X	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:69161	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868|PMID:28492532|PMID:29897170|PMID:33057194|PMID:33288889|PMID:35717370|PMID:35982159|PMID:35997807
8707008	Nfix	nuclear factor I X	gene	DOID:9008606	Corneal Opacity		ISO	RGD:69161	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Corneal opacity	PMID:25741868
8707008	Nfix	nuclear factor I X	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8707008	Nfix	nuclear factor I X	gene	DOID:930	orbital disease		ISO	RGD:69161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868
8707008	Nfix	nuclear factor I X	gene	DOID:9834	hyperopia		ISO	RGD:69161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
8707038	Dyrk2	dual specificity tyrosine phosphorylation regulated kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707038	Dyrk2	dual specificity tyrosine phosphorylation regulated kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1323814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8707038	Dyrk2	dual specificity tyrosine phosphorylation regulated kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707038	Dyrk2	dual specificity tyrosine phosphorylation regulated kinase 2	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1323814	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
8707059	B3galt6	beta-1,3-galactosyltransferase 6	gene	DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2		ISO	RGD:1319963	D	RGD:7240710	20200826	OMIM			
8707059	B3galt6	beta-1,3-galactosyltransferase 6	gene	DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2		ISO	RGD:1319963	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2	PMID:10862081|PMID:19492091|PMID:21031596|PMID:23664117|PMID:24766538|PMID:25149931|PMID:25741868|PMID:27023906|PMID:28229453|PMID:28492532|PMID:28649518|PMID:29230159|PMID:29443383|PMID:29620724|PMID:29931299|PMID:31674007|PMID:9683594
8707059	B3galt6	beta-1,3-galactosyltransferase 6	gene	DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2		ISO	RGD:1319963	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2	PMID:23664117|PMID:24766538|PMID:25149931|PMID:25741868|PMID:28229453|PMID:28492532|PMID:28649518|PMID:29230159|PMID:29443383|PMID:29931299|PMID:31614862|PMID:32381727|PMID:32761602|PMID:33631843|PMID:35726512|PMID:35734427|PMID:35903967|PMID:35918752|PMID:37657630
8707059	B3galt6	beta-1,3-galactosyltransferase 6	gene	DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1		ISO	RGD:1319963	D	RGD:9068941	20200903	CTD		CTD Direct Evidence: marker/mechanism	
8707059	B3galt6	beta-1,3-galactosyltransferase 6	gene	DOID:0112197	spondyloepimetaphyseal dysplasia with joint laxity		ISO	RGD:1319963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity	PMID:23664117|PMID:25741868|PMID:28492532|PMID:29443383|PMID:29931299|PMID:31614862|PMID:32381727|PMID:32761602|PMID:33631843|PMID:35726512|PMID:35734427|PMID:35903967|PMID:35918752
8707059	B3galt6	beta-1,3-galactosyltransferase 6	gene	DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1		ISO	RGD:1319963	D	RGD:7240710	20190501	OMIM			
8707059	B3galt6	beta-1,3-galactosyltransferase 6	gene	DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1		ISO	RGD:1319963	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 | ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	PMID:23664117|PMID:24766538|PMID:25741868|PMID:28492532|PMID:29443383|PMID:32761602|PMID:33631843|PMID:35726512
8707059	B3galt6	beta-1,3-galactosyltransferase 6	gene	DOID:0112280	spondyloepiphyseal dysplasia		ISO	RGD:1319963	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia	PMID:24033266
8707059	B3galt6	beta-1,3-galactosyltransferase 6	gene	DOID:630	genetic disease		ISO	RGD:1319963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:35903967|PMID:35918752
8707059	B3galt6	beta-1,3-galactosyltransferase 6	gene	DOID:9000730	Al-Gazali Syndrome		ISO	RGD:1319963	D	RGD:7240710	20221116	OMIM			
8707059	B3galt6	beta-1,3-galactosyltransferase 6	gene	DOID:9000730	Al-Gazali Syndrome		ISO	RGD:1319963	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AL-GAZALI SYNDROME | ClinVar Annotator: match by term: Al-Gazali syndrome	PMID:23664117|PMID:25741868|PMID:28492532
8707070	Nop14	NOP14 nucleolar protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707070	Nop14	NOP14 nucleolar protein	gene	DOID:10534	stomach cancer		ISO	RGD:1313732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8707070	Nop14	NOP14 nucleolar protein	gene	DOID:1115	sarcoma		ISO	RGD:1313732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8707070	Nop14	NOP14 nucleolar protein	gene	DOID:4362	cervical cancer		ISO	RGD:1313732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8707070	Nop14	NOP14 nucleolar protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1313732	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8707070	Nop14	NOP14 nucleolar protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707070	Nop14	NOP14 nucleolar protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8707099	Znf512	zinc finger protein 512	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8707099	Znf512	zinc finger protein 512	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707099	Znf512	zinc finger protein 512	gene	DOID:0060058	lymphoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8707099	Znf512	zinc finger protein 512	gene	DOID:10534	stomach cancer		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8707099	Znf512	zinc finger protein 512	gene	DOID:1115	sarcoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8707099	Znf512	zinc finger protein 512	gene	DOID:1324	lung cancer		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8707099	Znf512	zinc finger protein 512	gene	DOID:4362	cervical cancer		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8707099	Znf512	zinc finger protein 512	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8707099	Znf512	zinc finger protein 512	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8707099	Znf512	zinc finger protein 512	gene	DOID:5041	esophageal cancer		ISO	RGD:1349628	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8707099	Znf512	zinc finger protein 512	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707099	Znf512	zinc finger protein 512	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8707099	Znf512	zinc finger protein 512	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707099	Znf512	zinc finger protein 512	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8707099	Znf512	zinc finger protein 512	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8707116	Bpifb6	BPI fold containing family B member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707134	Clic4	chloride intracellular channel 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8707134	Clic4	chloride intracellular channel 4	gene	DOID:1115	sarcoma		ISO	RGD:737114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8707134	Clic4	chloride intracellular channel 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707134	Clic4	chloride intracellular channel 4	gene	DOID:8398	osteoarthritis		ISO	RGD:737114	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8707134	Clic4	chloride intracellular channel 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737114	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
8707134	Clic4	chloride intracellular channel 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:737114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8707134	Clic4	chloride intracellular channel 4	gene	DOID:9004657	Weight Gain		ISO	RGD:737114	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8707134	Clic4	chloride intracellular channel 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707134	Clic4	chloride intracellular channel 4	gene	DOID:9007661	Dwarfism		ISO	RGD:737114	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
8707134	Clic4	chloride intracellular channel 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8707153	Slitrk1	SLIT and NTRK like family member 1	gene	DOID:0050587	trichotillomania		ISO	RGD:1318872	D	RGD:7240710	20180130	OMIM			
8707153	Slitrk1	SLIT and NTRK like family member 1	gene	DOID:0050587	trichotillomania		ISO	RGD:1318872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trichotillomania	PMID:25741868
8707153	Slitrk1	SLIT and NTRK like family member 1	gene	DOID:11119	Gilles de la Tourette syndrome		ISO	RGD:1318872	D	RGD:7240710	20180130	OMIM			
8707153	Slitrk1	SLIT and NTRK like family member 1	gene	DOID:11119	Gilles de la Tourette syndrome		ISO	RGD:1318872	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GILLES DE LA TOURETTE SYNDROME | ClinVar Annotator: match by term: Tourette syndrome	PMID:17003809|PMID:19018236|PMID:20301778|PMID:22942103|PMID:23528612|PMID:23835198|PMID:25741868|PMID:27812321
8707162	Thap4	THAP domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8707162	Thap4	THAP domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707162	Thap4	THAP domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8707162	Thap4	THAP domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8707162	Thap4	THAP domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MELANOMA, MALIGNANT	
8707162	Thap4	THAP domain containing 4	gene	DOID:3070	high grade glioma		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8707162	Thap4	THAP domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707162	Thap4	THAP domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:0050758	metabolic acidosis		ISO	RGD:737474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:737474	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:0070214	familial hyperinsulinemic hypoglycemia 7		ISO	RGD:737474	D	RGD:7240710	20180130	OMIM			
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:0070214	familial hyperinsulinemic hypoglycemia 7		ISO	RGD:737474	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Exercise-induced hyperinsulinism | ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7 | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 7	PMID:25741868|PMID:25741869|PMID:28492532
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:0080600	COVID-19		ISO	RGD:737474	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:10534	stomach cancer		ISO	RGD:737474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:1324	lung cancer		ISO	RGD:737474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:3319	lymphangioleiomyomatosis		ISO	RGD:737474	D	RGD:9068941	20220630	RGD		protein:increased expression:lung (human)	PMID:29885404|REF_RGD_ID:152995523
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:4362	cervical cancer		ISO	RGD:737474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:630	genetic disease		ISO	RGD:737474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:9002353	Erythrocyte Lactate Transporter Defect		ISO	RGD:737474	D	RGD:7240710	20180130	OMIM			
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:9002353	Erythrocyte Lactate Transporter Defect		ISO	RGD:737474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ERYTHROCYTE LACTATE TRANSPORTER DEFECT	PMID:10590411|PMID:28492532
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:737474	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11953883
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:737474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:9006253	Ketosis		ISO	RGD:737474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ketonuria	
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:9007395	Monocarboxylate Transporter 1 Deficiency		ISO	RGD:737474	D	RGD:7240710	20180130	OMIM			
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:9007395	Monocarboxylate Transporter 1 Deficiency		ISO	RGD:737474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency | ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency, autosomal dominant	PMID:25390740|PMID:25741868|PMID:28492532
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:737474	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11953883
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:9008385	Vomiting		ISO	RGD:737474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	
8707178	Slc16a1	solute carrier family 16 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
8707198	Alcam	activated leukocyte cell adhesion molecule	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8707198	Alcam	activated leukocyte cell adhesion molecule	gene	DOID:0080600	COVID-19		ISO	RGD:733283	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8707198	Alcam	activated leukocyte cell adhesion molecule	gene	DOID:10534	stomach cancer		ISO	RGD:733283	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8707198	Alcam	activated leukocyte cell adhesion molecule	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8707198	Alcam	activated leukocyte cell adhesion molecule	gene	DOID:1324	lung cancer		ISO	RGD:733283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8707198	Alcam	activated leukocyte cell adhesion molecule	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8707198	Alcam	activated leukocyte cell adhesion molecule	gene	DOID:2394	ovarian cancer		ISO	RGD:733283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8707198	Alcam	activated leukocyte cell adhesion molecule	gene	DOID:2513	basal cell carcinoma		ISO	RGD:733283	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8707198	Alcam	activated leukocyte cell adhesion molecule	gene	DOID:305	carcinoma		ISO	RGD:733283	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8707198	Alcam	activated leukocyte cell adhesion molecule	gene	DOID:3275	thymoma		ISO	RGD:733283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8707198	Alcam	activated leukocyte cell adhesion molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:733283	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8707198	Alcam	activated leukocyte cell adhesion molecule	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8707198	Alcam	activated leukocyte cell adhesion molecule	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:733283	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8707198	Alcam	activated leukocyte cell adhesion molecule	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:619972	D	RGD:9068941	20220324	RGD		mRNA:increased expression:mammary gland (rat)	PMID:16316942|REF_RGD_ID:2306898
8707198	Alcam	activated leukocyte cell adhesion molecule	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:733283	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8707198	Alcam	activated leukocyte cell adhesion molecule	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:733283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8707198	Alcam	activated leukocyte cell adhesion molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707198	Alcam	activated leukocyte cell adhesion molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8707198	Alcam	activated leukocyte cell adhesion molecule	gene	DOID:9256	colorectal cancer		ISO	RGD:733283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8707232	Asic5	acid sensing ion channel subunit family member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707232	Asic5	acid sensing ion channel subunit family member 5	gene	DOID:3275	thymoma		ISO	RGD:736018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8707232	Asic5	acid sensing ion channel subunit family member 5	gene	DOID:9007479	Habitual Abortions		ISO	RGD:736018	D	RGD:8554872	20230418	ClinVar		ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3	
8707232	Asic5	acid sensing ion channel subunit family member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:27569545|PMID:28191890|PMID:33057194|PMID:35917186
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:0080297	Coffin-Siris syndrome 6		ISO	RGD:1320542	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome 6	PMID:25741868|PMID:35917186
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1320542	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1320542	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:33057194|PMID:3591718|PMID:35917186|PMID:36924980
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:35917186
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:3275	thymoma		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:3401	inappropriate ADH syndrome		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inappropriate antidiuretic hormone secretion	PMID:25741868|PMID:35917186
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:3459	breast carcinoma		ISO	RGD:1320542	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:33057194|PMID:3591718|PMID:35917186|PMID:36924980
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320542	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320542	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:33057194|PMID:34234147|PMID:34732801|PMID:3591718|PMID:35917186|PMID:36924980
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:9006635	Hyponatremia		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyponatremia	PMID:25741868|PMID:35917186
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:35917186
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8707244	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:9993	hypoglycemia		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868|PMID:35917186
8707316	Apom	apolipoprotein M	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707316	Apom	apolipoprotein M	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1351807	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:g.-778T>C(rs805296)(human)	PMID:17674965|REF_RGD_ID:2314241
8707316	Apom	apolipoprotein M	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707316	Apom	apolipoprotein M	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8707316	Apom	apolipoprotein M	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8707316	Apom	apolipoprotein M	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1551634	D	RGD:9068941	20200609	RGD		protein:decreased secretion:plasma	PMID:16516154|REF_RGD_ID:2314249
8707316	Apom	apolipoprotein M	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1351807	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:19539616|REF_RGD_ID:2314236
8707316	Apom	apolipoprotein M	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707316	Apom	apolipoprotein M	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1351807	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:g.-778T>C(rs805296)(human)	PMID:16572495|REF_RGD_ID:2314248
8707316	Apom	apolipoprotein M	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	ISO	RGD:1351807	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:g.-778T>C(rs805296)(human)	PMID:19007767|REF_RGD_ID:2314238
8707331	Bcas1	brain enriched myelin associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707331	Bcas1	brain enriched myelin associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8707331	Bcas1	brain enriched myelin associated protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1351231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8707331	Bcas1	brain enriched myelin associated protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1351231	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8707331	Bcas1	brain enriched myelin associated protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8707331	Bcas1	brain enriched myelin associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707331	Bcas1	brain enriched myelin associated protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8707331	Bcas1	brain enriched myelin associated protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8707331	Bcas1	brain enriched myelin associated protein 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1351231	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15583422
8707331	Bcas1	brain enriched myelin associated protein 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1351231	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
8707331	Bcas1	brain enriched myelin associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8707357	Tmem39a	transmembrane protein 39A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707357	Tmem39a	transmembrane protein 39A	gene	DOID:10534	stomach cancer		ISO	RGD:1353039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8707357	Tmem39a	transmembrane protein 39A	gene	DOID:1115	sarcoma		ISO	RGD:1353039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8707357	Tmem39a	transmembrane protein 39A	gene	DOID:1324	lung cancer		ISO	RGD:1353039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8707357	Tmem39a	transmembrane protein 39A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8707357	Tmem39a	transmembrane protein 39A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707357	Tmem39a	transmembrane protein 39A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707357	Tmem39a	transmembrane protein 39A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8707357	Tmem39a	transmembrane protein 39A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8707374	Gss	glutathione synthetase	gene	DOID:0080699	glutathione synthetase deficiency		ISO	RGD:735330	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GLUTATHIONE SYNTHETASE DEFICIENCY | ClinVar Annotator: match by term: Inherited glutathione synthetase deficiency | ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA	PMID:10369661|PMID:10861239|PMID:11167850|PMID:11445798|PMID:12638941|PMID:14635114|PMID:15056072|PMID:15717202|PMID:17576681|PMID:25741868|PMID:28492532|PMID:30581542|PMID:31198081|PMID:8896573|PMID:9215686|PMID:9536098
8707374	Gss	glutathione synthetase	gene	DOID:0081034	glutathione synthetase deficiency with 5-oxoprolinuria		ISO	RGD:735330	D	RGD:7240710	20220223	OMIM			
8707374	Gss	glutathione synthetase	gene	DOID:0081034	glutathione synthetase deficiency with 5-oxoprolinuria		ISO	RGD:735330	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY | ClinVar Annotator: match by term: Glutathione synthetase deficiency with 5-oxoprolinuria	PMID:10369661|PMID:10861239|PMID:11167850|PMID:11445798|PMID:12638941|PMID:14635114|PMID:15056072|PMID:15717202|PMID:16199547|PMID:17576681|PMID:19728142|PMID:25741868|PMID:25851806|PMID:26669244|PMID:28267090|PMID:28492532|PMID:8896573|PMID:9215686|PMID:9536098
8707374	Gss	glutathione synthetase	gene	DOID:0112252	congenital nonspherocytic hemolytic anemia 6		ISO	RGD:735330	D	RGD:7240710	20241211	OMIM			
8707374	Gss	glutathione synthetase	gene	DOID:0112252	congenital nonspherocytic hemolytic anemia 6		ISO	RGD:735330	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glutathione synthetase deficiency without 5-oxoprolinuria	PMID:11167850|PMID:15056072|PMID:15717202|PMID:25741868|PMID:28492532|PMID:8896573|PMID:9215686
8707374	Gss	glutathione synthetase	gene	DOID:10534	stomach cancer		ISO	RGD:735330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8707374	Gss	glutathione synthetase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735330	D	RGD:9068941	20200609	RGD			PMID:15693022|REF_RGD_ID:5508441
8707374	Gss	glutathione synthetase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8707374	Gss	glutathione synthetase	gene	DOID:1909	melanoma		ISO	RGD:735330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8707374	Gss	glutathione synthetase	gene	DOID:2773	contact dermatitis		ISO	RGD:735330	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
8707374	Gss	glutathione synthetase	gene	DOID:305	carcinoma		ISO	RGD:735330	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8707374	Gss	glutathione synthetase	gene	DOID:403	mouth disease		ISO	RGD:735330	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17682004
8707374	Gss	glutathione synthetase	gene	DOID:5041	esophageal cancer		ISO	RGD:735330	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8707374	Gss	glutathione synthetase	gene	DOID:5419	schizophrenia		ISO	RGD:735330	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8707374	Gss	glutathione synthetase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707374	Gss	glutathione synthetase	gene	DOID:630	genetic disease		ISO	RGD:735330	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8707374	Gss	glutathione synthetase	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:735330	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8707374	Gss	glutathione synthetase	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:735330	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8707374	Gss	glutathione synthetase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707374	Gss	glutathione synthetase	gene	DOID:9007558	Acute Experimental Pancreatitis		ISO	RGD:2752	D	RGD:9068941	20200609	RGD			PMID:17897920|REF_RGD_ID:11353819
8707374	Gss	glutathione synthetase	gene	DOID:9256	colorectal cancer		ISO	RGD:735330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8707395	Metrn	meteorin, glial cell differentiation regulator	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8707395	Metrn	meteorin, glial cell differentiation regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707395	Metrn	meteorin, glial cell differentiation regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707395	Metrn	meteorin, glial cell differentiation regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8707427	Ep400	E1A binding protein p400	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8707427	Ep400	E1A binding protein p400	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707427	Ep400	E1A binding protein p400	gene	DOID:0070309	absence epilepsy		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868|PMID:39708813
8707427	Ep400	E1A binding protein p400	gene	DOID:10534	stomach cancer		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8707427	Ep400	E1A binding protein p400	gene	DOID:10907	microcephaly		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:39708813
8707427	Ep400	E1A binding protein p400	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8707427	Ep400	E1A binding protein p400	gene	DOID:1115	sarcoma		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8707427	Ep400	E1A binding protein p400	gene	DOID:1324	lung cancer		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8707427	Ep400	E1A binding protein p400	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8707427	Ep400	E1A binding protein p400	gene	DOID:3275	thymoma		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8707427	Ep400	E1A binding protein p400	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8707427	Ep400	E1A binding protein p400	gene	DOID:4362	cervical cancer		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8707427	Ep400	E1A binding protein p400	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8707427	Ep400	E1A binding protein p400	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8707427	Ep400	E1A binding protein p400	gene	DOID:5041	esophageal cancer		ISO	RGD:1312347	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8707427	Ep400	E1A binding protein p400	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8707427	Ep400	E1A binding protein p400	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707427	Ep400	E1A binding protein p400	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8707427	Ep400	E1A binding protein p400	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312347	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8707427	Ep400	E1A binding protein p400	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707427	Ep400	E1A binding protein p400	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8707427	Ep400	E1A binding protein p400	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult	
8707504	C8a	complement C8 alpha chain	gene	DOID:0060301	type I complement component 8 deficiency		ISO	RGD:1318077	D	RGD:7240710	20180130	OMIM			
8707504	C8a	complement C8 alpha chain	gene	DOID:0060301	type I complement component 8 deficiency		ISO	RGD:1318077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: C8 ALPHA-GAMMA DEFICIENCY | ClinVar Annotator: match by term: C8A-related condition | ClinVar Annotator: match by term: C8AG DEFICIENCY | ClinVar Annotator: match by term: Type I complement component 8 deficiency	PMID:16199547|PMID:25741868|PMID:28492532|PMID:29148534|PMID:31681265|PMID:35511137|PMID:37771589|PMID:975502|PMID:9759902
8707504	C8a	complement C8 alpha chain	gene	DOID:10534	stomach cancer		ISO	RGD:1318077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8707504	C8a	complement C8 alpha chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8707504	C8a	complement C8 alpha chain	gene	DOID:5844	myocardial infarction		ISO	RGD:1308355	D	RGD:9068941	20200609	RGD			PMID:7515561|REF_RGD_ID:1600501
8707504	C8a	complement C8 alpha chain	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1318077	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9759902
8707504	C8a	complement C8 alpha chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:16199547|PMID:25741868|PMID:28492532|PMID:9759902
8707504	C8a	complement C8 alpha chain	gene	DOID:9008538	Neisseriaceae Infections		ISO	RGD:1318077	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9759902
8707504	C8a	complement C8 alpha chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
8707504	C8a	complement C8 alpha chain	gene	DOID:9471	meningitis		ISO	RGD:1318077	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9759902
8707537	Bspry	B-box and SPRY domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707537	Bspry	B-box and SPRY domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:1347567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8707537	Bspry	B-box and SPRY domain containing	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8707537	Bspry	B-box and SPRY domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1347567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8707537	Bspry	B-box and SPRY domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707549	Timm17b	translocase of inner mitochondrial membrane 17B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8707549	Timm17b	translocase of inner mitochondrial membrane 17B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707549	Timm17b	translocase of inner mitochondrial membrane 17B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8707549	Timm17b	translocase of inner mitochondrial membrane 17B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707558	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707558	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:0060058	lymphoma		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8707558	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8707558	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8707558	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8707558	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8707558	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8707558	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604481	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8707558	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707558	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8707558	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707558	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8707558	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8707577	Ddx18	DEAD-box helicase 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8707577	Ddx18	DEAD-box helicase 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707577	Ddx18	DEAD-box helicase 18	gene	DOID:10534	stomach cancer		ISO	RGD:1348568	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8707577	Ddx18	DEAD-box helicase 18	gene	DOID:1324	lung cancer		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8707577	Ddx18	DEAD-box helicase 18	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8707577	Ddx18	DEAD-box helicase 18	gene	DOID:4362	cervical cancer		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8707577	Ddx18	DEAD-box helicase 18	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8707577	Ddx18	DEAD-box helicase 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1348568	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8707577	Ddx18	DEAD-box helicase 18	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8707577	Ddx18	DEAD-box helicase 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707577	Ddx18	DEAD-box helicase 18	gene	DOID:6039	uveal melanoma		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8707577	Ddx18	DEAD-box helicase 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8707577	Ddx18	DEAD-box helicase 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707577	Ddx18	DEAD-box helicase 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8707577	Ddx18	DEAD-box helicase 18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8707596	Map4k2	mitogen-activated protein kinase kinase kinase kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8707596	Map4k2	mitogen-activated protein kinase kinase kinase kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707596	Map4k2	mitogen-activated protein kinase kinase kinase kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8707596	Map4k2	mitogen-activated protein kinase kinase kinase kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1317839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8707596	Map4k2	mitogen-activated protein kinase kinase kinase kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1317839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8707596	Map4k2	mitogen-activated protein kinase kinase kinase kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1317839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8707596	Map4k2	mitogen-activated protein kinase kinase kinase kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8707596	Map4k2	mitogen-activated protein kinase kinase kinase kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317839	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8707596	Map4k2	mitogen-activated protein kinase kinase kinase kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707596	Map4k2	mitogen-activated protein kinase kinase kinase kinase 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8707596	Map4k2	mitogen-activated protein kinase kinase kinase kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707596	Map4k2	mitogen-activated protein kinase kinase kinase kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8707656	Mcrs1	microspherule protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8707656	Mcrs1	microspherule protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8707656	Mcrs1	microspherule protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707656	Mcrs1	microspherule protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707681	Hdgfl3	HDGF like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8707681	Hdgfl3	HDGF like 3	gene	DOID:1115	sarcoma		ISO	RGD:1606795	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8707681	Hdgfl3	HDGF like 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1606795	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8707681	Hdgfl3	HDGF like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707681	Hdgfl3	HDGF like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8707694	Kat2b	lysine acetyltransferase 2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8707694	Kat2b	lysine acetyltransferase 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707694	Kat2b	lysine acetyltransferase 2B	gene	DOID:10534	stomach cancer		ISO	RGD:1314209	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8707694	Kat2b	lysine acetyltransferase 2B	gene	DOID:1115	sarcoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8707694	Kat2b	lysine acetyltransferase 2B	gene	DOID:1612	breast cancer	severity	ISO	RGD:1314209	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast (human)	PMID:22199269|REF_RGD_ID:9586031
8707694	Kat2b	lysine acetyltransferase 2B	gene	DOID:1909	melanoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8707694	Kat2b	lysine acetyltransferase 2B	gene	DOID:3275	thymoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8707694	Kat2b	lysine acetyltransferase 2B	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1314209	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:esophagus (human)	PMID:19525977|REF_RGD_ID:9590307
8707694	Kat2b	lysine acetyltransferase 2B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8707694	Kat2b	lysine acetyltransferase 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8707694	Kat2b	lysine acetyltransferase 2B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8707694	Kat2b	lysine acetyltransferase 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1314209	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8707694	Kat2b	lysine acetyltransferase 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707694	Kat2b	lysine acetyltransferase 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8707694	Kat2b	lysine acetyltransferase 2B	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1314209	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver (human)	PMID:23643089|REF_RGD_ID:9590314
8707694	Kat2b	lysine acetyltransferase 2B	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1314209	D	RGD:9068941	20230105	RGD		mRNA:increased expression:peripheral blood mononuclear cell	PMID:36104638|REF_RGD_ID:155791669
8707694	Kat2b	lysine acetyltransferase 2B	gene	DOID:9000528	Coronary Disease	severity	ISO	RGD:1314209	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-2481G>C (human)	PMID:21062767|REF_RGD_ID:9590309
8707694	Kat2b	lysine acetyltransferase 2B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8707694	Kat2b	lysine acetyltransferase 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707694	Kat2b	lysine acetyltransferase 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8707694	Kat2b	lysine acetyltransferase 2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8707726	Rnf175	ring finger protein 175	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707726	Rnf175	ring finger protein 175	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707726	Rnf175	ring finger protein 175	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8707726	Rnf175	ring finger protein 175	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:0060934	neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy		ISO	RGD:1315610	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	PMID:25741868
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:0070757	Pilarowski-Bjornsson syndrome		ISO	RGD:1315610	D	RGD:7240710	20190315	OMIM			
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:0070757	Pilarowski-Bjornsson syndrome		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHD1-related condition | ClinVar Annotator: match by term: DEVELOPMENTAL DELAY AND SPEECH APRAXIA WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: PILAROWSKI-BJORNSSON SYNDROME | ClinVar Annotator: match by term: Pilarowski-Bjornsson syndrome	PMID:25418537|PMID:25741868|PMID:28866611|PMID:40385454
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1315610	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: complex neurodevelopmental disorder	PMID:25741868
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:0080909	castration-resistant prostate carcinoma		ISO	RGD:1315610	D	RGD:9068941	20200609	RGD		DNA:mutations: :	PMID:22722839|REF_RGD_ID:9587749
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1315610	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:25741868
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:10283	prostate cancer		ISO	RGD:1315610	D	RGD:9068941	20200609	RGD		DNA:deletions: :	PMID:22179824|REF_RGD_ID:9587750
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:11830	myopia		ISO	RGD:1315610	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315610	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315610	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315610	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315610	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315610	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1315610	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30728766
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1315610	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30510241
8707748	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8707790	Hax1	HCLS1 associated protein X-1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1607073	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:17187068|PMID:25741868
8707790	Hax1	HCLS1 associated protein X-1	gene	DOID:0050590	severe congenital neutropenia		ISO	RGD:1607073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe congenital neutropenia	
8707790	Hax1	HCLS1 associated protein X-1	gene	DOID:0112133	severe congenital neutropenia 3		ISO	RGD:1607073	D	RGD:7240710	20180130	OMIM			
8707790	Hax1	HCLS1 associated protein X-1	gene	DOID:0112133	severe congenital neutropenia 3		ISO	RGD:1607073	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KOSTMANN DISEASE | ClinVar Annotator: match by term: Kostmann syndrome | ClinVar Annotator: match by term: NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Severe congenital neutropenia 3, autosomal recessive	PMID:16199547|PMID:17187068|PMID:17576681|PMID:18055975|PMID:18330843|PMID:18337561|PMID:18611981|PMID:19036076|PMID:20065084|PMID:20177699|PMID:20220065|PMID:21108402|PMID:21344642|PMID:22102707|PMID:24482108|PMID:25741868|PMID:28102861|PMID:28492532|PMID:31321910|PMID:31980526|PMID:32005694|PMID:32581362|PMID:33381479|PMID:33560082|PMID:34134972|PMID:34826056|PMID:37193639|PMID:37474001|PMID:9536098
8707790	Hax1	HCLS1 associated protein X-1	gene	DOID:1324	lung cancer		ISO	RGD:1607073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8707790	Hax1	HCLS1 associated protein X-1	gene	DOID:1909	melanoma		ISO	RGD:1607073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8707790	Hax1	HCLS1 associated protein X-1	gene	DOID:2394	ovarian cancer		ISO	RGD:1607073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8707790	Hax1	HCLS1 associated protein X-1	gene	DOID:4362	cervical cancer		ISO	RGD:1607073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8707790	Hax1	HCLS1 associated protein X-1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707790	Hax1	HCLS1 associated protein X-1	gene	DOID:630	genetic disease		ISO	RGD:1607073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17187068|PMID:18337561|PMID:20065084|PMID:20177699|PMID:20220065|PMID:22102707|PMID:24482108|PMID:25741868|PMID:28492532|PMID:32005694|PMID:33381479|PMID:34134972|PMID:34826056|PMID:37474001
8707790	Hax1	HCLS1 associated protein X-1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1607073	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:17187068|PMID:25741868
8707790	Hax1	HCLS1 associated protein X-1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:16199547|PMID:17187068|PMID:25741868|PMID:28492532
8707790	Hax1	HCLS1 associated protein X-1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:16199547|PMID:17187068|PMID:25741868|PMID:28492532
8707822	Asmt	acetylserotonin O-methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8707822	Asmt	acetylserotonin O-methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707822	Asmt	acetylserotonin O-methyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1353638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8707822	Asmt	acetylserotonin O-methyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1353638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8707822	Asmt	acetylserotonin O-methyltransferase	gene	DOID:12849	autistic disorder		ISO	RGD:1353638	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:17505466
8707822	Asmt	acetylserotonin O-methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1353638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8707822	Asmt	acetylserotonin O-methyltransferase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8707822	Asmt	acetylserotonin O-methyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1353638	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8707822	Asmt	acetylserotonin O-methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707822	Asmt	acetylserotonin O-methyltransferase	gene	DOID:893	Wilson disease		ISO	RGD:1353638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23519153
8707822	Asmt	acetylserotonin O-methyltransferase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8707822	Asmt	acetylserotonin O-methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707822	Asmt	acetylserotonin O-methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8707836	Slc51a	solute carrier family 51 member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707836	Slc51a	solute carrier family 51 member A	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1604974	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16423920
8707836	Slc51a	solute carrier family 51 member A	gene	DOID:13580	cholestasis		ISO	RGD:1604974	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16423920|PMID:22461449
8707836	Slc51a	solute carrier family 51 member A	gene	DOID:1561	cognitive disorder		ISO	RGD:1604974	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29382564
8707836	Slc51a	solute carrier family 51 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707836	Slc51a	solute carrier family 51 member A	gene	DOID:9002471	Progressive Familial Intrahepatic Cholestasis 6		ISO	RGD:1604974	D	RGD:7240710	20210825	OMIM			
8707836	Slc51a	solute carrier family 51 member A	gene	DOID:9002471	Progressive Familial Intrahepatic Cholestasis 6		ISO	RGD:1604974	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6 | ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 6 | ClinVar Annotator: match by term: SLC51A-related disorder	PMID:25741868|PMID:31863603|PMID:32247663
8707836	Slc51a	solute carrier family 51 member A	gene	DOID:9002661	Diabetes Complications		ISO	RGD:1604974	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29382564
8707836	Slc51a	solute carrier family 51 member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
8707836	Slc51a	solute carrier family 51 member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8707854	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8707854	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707854	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:0060058	lymphoma		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8707854	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:0080600	COVID-19		ISO	RGD:1354428	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8707854	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:10534	stomach cancer		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8707854	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8707854	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:1324	lung cancer		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8707854	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8707854	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:4362	cervical cancer		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8707854	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1354428	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8707854	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8707854	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8707854	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707854	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8707885	Syt16	synaptotagmin 16	gene	DOID:1909	melanoma		ISO	RGD:1346455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8707885	Syt16	synaptotagmin 16	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8707896	R3hcc1l	R3H domain and coiled-coil containing 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8707896	R3hcc1l	R3H domain and coiled-coil containing 1 like	gene	DOID:1115	sarcoma		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8707896	R3hcc1l	R3H domain and coiled-coil containing 1 like	gene	DOID:1324	lung cancer		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8707896	R3hcc1l	R3H domain and coiled-coil containing 1 like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8707896	R3hcc1l	R3H domain and coiled-coil containing 1 like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8707896	R3hcc1l	R3H domain and coiled-coil containing 1 like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8707896	R3hcc1l	R3H domain and coiled-coil containing 1 like	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8707896	R3hcc1l	R3H domain and coiled-coil containing 1 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8707896	R3hcc1l	R3H domain and coiled-coil containing 1 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8707896	R3hcc1l	R3H domain and coiled-coil containing 1 like	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8707896	R3hcc1l	R3H domain and coiled-coil containing 1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707931	Med22	mediator complex subunit 22	gene	DOID:10534	stomach cancer		ISO	RGD:1606332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8707931	Med22	mediator complex subunit 22	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8707931	Med22	mediator complex subunit 22	gene	DOID:1115	sarcoma		ISO	RGD:1606332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8707931	Med22	mediator complex subunit 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707944	Lingo4	leucine rich repeat and Ig domain containing 4	gene	DOID:0080918	polymicrogyria		ISO	RGD:1606911	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:29706646
8707944	Lingo4	leucine rich repeat and Ig domain containing 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1606911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8707944	Lingo4	leucine rich repeat and Ig domain containing 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8707955	Flt3lg	fms related receptor tyrosine kinase 3 ligand	gene	DOID:0061091	immunodeficiency 125		ISO	RGD:1353824	D	RGD:7240710	20240918	OMIM			
8707955	Flt3lg	fms related receptor tyrosine kinase 3 ligand	gene	DOID:0061091	immunodeficiency 125		ISO	RGD:1353824	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 125	
8707955	Flt3lg	fms related receptor tyrosine kinase 3 ligand	gene	DOID:10534	stomach cancer		ISO	RGD:1353824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8707955	Flt3lg	fms related receptor tyrosine kinase 3 ligand	gene	DOID:12449	aplastic anemia		ISO	RGD:1353824	D	RGD:9068941	20200609	RGD		protein:increased expression:serum,plasma:	PMID:7492765|REF_RGD_ID:11049505
8707955	Flt3lg	fms related receptor tyrosine kinase 3 ligand	gene	DOID:1324	lung cancer		ISO	RGD:1353824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8707955	Flt3lg	fms related receptor tyrosine kinase 3 ligand	gene	DOID:13636	Fanconi anemia		ISO	RGD:1353824	D	RGD:9068941	20200609	RGD		protein:increased expression:serum,plasma:	PMID:7492765|REF_RGD_ID:11049505
8707955	Flt3lg	fms related receptor tyrosine kinase 3 ligand	gene	DOID:1520	colon carcinoma	treatment	ISO	RGD:1353824	D	RGD:9068941	20200609	RGD			PMID:10842197|REF_RGD_ID:11049504
8707955	Flt3lg	fms related receptor tyrosine kinase 3 ligand	gene	DOID:1793	pancreatic cancer		ISO	RGD:2322792	D	RGD:9068941	20200609	RGD			PMID:16528542|REF_RGD_ID:11049499
8707955	Flt3lg	fms related receptor tyrosine kinase 3 ligand	gene	DOID:3068	glioblastoma	treatment	ISO	RGD:1353824	D	RGD:9068941	20200609	RGD			PMID:18079358|REF_RGD_ID:11049502
8707955	Flt3lg	fms related receptor tyrosine kinase 3 ligand	gene	DOID:3070	high grade glioma	treatment	ISO	RGD:1353824	D	RGD:9068941	20200609	RGD			PMID:15564139|REF_RGD_ID:11049500
8707955	Flt3lg	fms related receptor tyrosine kinase 3 ligand	gene	DOID:4971	myelofibrosis		ISO	RGD:1353824	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma, CD34+ cell, bone marrow fibroblast:	PMID:21487043|REF_RGD_ID:11049484
8707955	Flt3lg	fms related receptor tyrosine kinase 3 ligand	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707955	Flt3lg	fms related receptor tyrosine kinase 3 ligand	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:1557069	D	RGD:9068941	20200609	RGD			PMID:24184252|REF_RGD_ID:11049498
8707955	Flt3lg	fms related receptor tyrosine kinase 3 ligand	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8707955	Flt3lg	fms related receptor tyrosine kinase 3 ligand	gene	DOID:9000300	Refractory Anemia		ISO	RGD:1353824	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:10214861|REF_RGD_ID:11049479
8707955	Flt3lg	fms related receptor tyrosine kinase 3 ligand	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8707955	Flt3lg	fms related receptor tyrosine kinase 3 ligand	gene	DOID:9538	multiple myeloma	disease_progression	ISO	RGD:1353824	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:26521986|REF_RGD_ID:11075232
8707975	Casq1	calsequestrin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8707975	Casq1	calsequestrin 1	gene	DOID:423	myopathy		ISO	RGD:1344349	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:28492532
8707975	Casq1	calsequestrin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8707975	Casq1	calsequestrin 1	gene	DOID:630	genetic disease		ISO	RGD:1344349	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8707975	Casq1	calsequestrin 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1619288	D	RGD:9068941	20230525	RGD			PMID:19237502|REF_RGD_ID:329813080
8707975	Casq1	calsequestrin 1	gene	DOID:9002092	Tubular Aggregate Myopathies		ISO	RGD:1344349	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Myopathy with tubular aggregates	PMID:25741868|PMID:28492532|PMID:28895244|PMID:29039140|PMID:30258016
8707975	Casq1	calsequestrin 1	gene	DOID:9005189	Vacuolar Myopathy		ISO	RGD:1344349	D	RGD:7240710	20180130	OMIM			
8707975	Casq1	calsequestrin 1	gene	DOID:9005189	Vacuolar Myopathy		ISO	RGD:1344349	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: CASQ1-related condition | ClinVar Annotator: match by term: MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES | ClinVar Annotator: match by term: Myopathy, vacuolar, with casq1 aggregates	PMID:25116801|PMID:25741868|PMID:26136523|PMID:26416891|PMID:27196359|PMID:28492532|PMID:30258016|PMID:33786938|PMID:39825153
8707975	Casq1	calsequestrin 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1586677	D	RGD:9068941	20200609	RGD		protein:increased activity:skeletal muscle tissue	PMID:11976916|REF_RGD_ID:2314137
8707975	Casq1	calsequestrin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8707975	Casq1	calsequestrin 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1344349	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs617698(human)	PMID:18269685|REF_RGD_ID:2314133
8707975	Casq1	calsequestrin 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1344349	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:15561962|PMID:15561963|REF_RGD_ID:2314135|REF_RGD_ID:2314136
8707975	Casq1	calsequestrin 1	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:1344349	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2275703(human)	PMID:17681849|REF_RGD_ID:2314134
8708010	Foxk2	forkhead box K2	gene	DOID:12336	male infertility		ISO	RGD:1313423	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32522586
8708010	Foxk2	forkhead box K2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8708010	Foxk2	forkhead box K2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708010	Foxk2	forkhead box K2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313423	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8708010	Foxk2	forkhead box K2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8708010	Foxk2	forkhead box K2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8708022	Parvg	parvin gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8708022	Parvg	parvin gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1322037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8708022	Parvg	parvin gamma	gene	DOID:1324	lung cancer		ISO	RGD:1322037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8708022	Parvg	parvin gamma	gene	DOID:1909	melanoma		ISO	RGD:1322037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8708022	Parvg	parvin gamma	gene	DOID:4362	cervical cancer		ISO	RGD:1322037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8708022	Parvg	parvin gamma	gene	DOID:5041	esophageal cancer		ISO	RGD:1322037	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8708022	Parvg	parvin gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708022	Parvg	parvin gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8708046	Cldn4	claudin 4	gene	DOID:0060496	respiratory allergy		ISO	RGD:1317413	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30608172
8708046	Cldn4	claudin 4	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1317413	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8708046	Cldn4	claudin 4	gene	DOID:13976	peptic esophagitis		ISO	RGD:1307932	D	RGD:9068941	20200609	RGD		protein:altered localization:esophagus epithelium, cytoplasm	PMID:16143882|REF_RGD_ID:2317602
8708046	Cldn4	claudin 4	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1317413	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:28377727
8708046	Cldn4	claudin 4	gene	DOID:1793	pancreatic cancer		ISO	RGD:1317413	D	RGD:9068941	20200609	RGD			PMID:19555390|PMID:19793693|REF_RGD_ID:2317580|REF_RGD_ID:2317583
8708046	Cldn4	claudin 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1317413	D	RGD:9068941	20200609	RGD			PMID:19555390|REF_RGD_ID:2317583
8708046	Cldn4	claudin 4	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1317413	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19142967
8708046	Cldn4	claudin 4	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1317413	D	RGD:9068941	20200609	RGD			PMID:15693851|REF_RGD_ID:2317592
8708046	Cldn4	claudin 4	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1307932	D	RGD:9068941	20200609	RGD		protein:increased expression, altered localization:small intestine epithelium	PMID:17375208|REF_RGD_ID:2317600
8708046	Cldn4	claudin 4	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1317413	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19142967
8708046	Cldn4	claudin 4	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1317413	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19142967
8708063	Paqr6	progestin and adipoQ receptor family member 6	gene	DOID:10534	stomach cancer		ISO	RGD:1323634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8708063	Paqr6	progestin and adipoQ receptor family member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708063	Paqr6	progestin and adipoQ receptor family member 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8708063	Paqr6	progestin and adipoQ receptor family member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:68493	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868|PMID:33296094
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:0070169	spermatogenic failure 8		ISO	RGD:68493	D	RGD:7240710	20180130	OMIM			
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:0070169	spermatogenic failure 8		ISO	RGD:68493	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 8 | ClinVar Annotator: match by term: Spermatogenic failure 8	PMID:25741868
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:0070188	spermatogenic failure 1		ISO	RGD:68493	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: OLIGOCHIASMATIC INFERTILITY | ClinVar Annotator: match by term: Oligosynaptic infertility	PMID:10369247|PMID:11038323|PMID:12907682|PMID:16199547|PMID:17200175|PMID:17576681|PMID:17656604|PMID:17694559|PMID:19246354|PMID:19269353|PMID:19439508|PMID:20887963|PMID:22028768|PMID:22474171|PMID:22549935|PMID:23543655|PMID:23729601|PMID:24434652|PMID:25122490|PMID:25741868|PMID:25989977|PMID:26139438|PMID:27169744|PMID:27378692|PMID:27490115|PMID:27899157|PMID:28032338|PMID:28033660|PMID:28130116|PMID:28326187|PMID:28492532|PMID:28938747|PMID:29027299|PMID:29190620|PMID:29582157|PMID:29935645|PMID:30103258|PMID:30406445|PMID:30425642|PMID:31513305|PMID:31831369|PMID:32008008|PMID:32738419|PMID:32985417|PMID:33351340|PMID:34095689|PMID:34461970|PMID:36745277|PMID:38168586|PMID:9536098
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:0080864	primary ovarian insufficiency 7		ISO	RGD:68493	D	RGD:7240710	20180130	OMIM			
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:0080864	primary ovarian insufficiency 7		ISO	RGD:68493	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ADRENAL INSUFFICIENCY, NR5A1-RELATED | ClinVar Annotator: match by term: Premature ovarian failure 7	PMID:17940071|PMID:25099250|PMID:25741868|PMID:27378692|PMID:28492532|PMID:30067310|PMID:32655042|PMID:34008892|PMID:34803902
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:68493	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:17656604|PMID:17694559|PMID:22028768|PMID:24434652|PMID:25122490|PMID:25741868|PMID:27169744|PMID:27899157|PMID:28492532|PMID:30103258|PMID:30425642
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:68494	D	RGD:9068941	20220825	MouseDO			
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:0111764	46,XX sex reversal 4		ISO	RGD:68493	D	RGD:7240710	20200408	OMIM			
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:0111764	46,XX sex reversal 4		ISO	RGD:68493	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 46, XX sex reversal 4 | ClinVar Annotator: match by term: 46,XX sex reversal 4	PMID:22549935|PMID:25741868|PMID:27378692|PMID:27490115|PMID:28033660|PMID:28492532|PMID:30350900|PMID:30425642|PMID:38128121|PMID:38168586|PMID:40645834
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:0111772	46,XY sex reversal 3		ISO	RGD:68493	D	RGD:7240710	20200408	OMIM			
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:0111772	46,XY sex reversal 3		ISO	RGD:68493	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: 46,XY SEX REVERSAL 3 | ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED	PMID:10369247|PMID:17576681|PMID:17656604|PMID:17694559|PMID:18414213|PMID:20887963|PMID:21691958|PMID:22028768|PMID:22474171|PMID:22549935|PMID:24434652|PMID:25122490|PMID:25326637|PMID:25741868|PMID:27169744|PMID:27378692|PMID:27490115|PMID:27899157|PMID:28032338|PMID:28033660|PMID:28326187|PMID:28492532|PMID:29095814|PMID:29582157|PMID:29935645|PMID:30103258|PMID:30425642|PMID:31513305|PMID:31745530|PMID:31831369|PMID:32738419|PMID:33202802|PMID:33351340|PMID:35134971|PMID:9536098
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:0112177	Mayer-Rokitansky-Kuster-Hauser syndrome		ISO	RGD:68493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aplasia of the uterus	PMID:17656604|PMID:17694559|PMID:24434652|PMID:25741868|PMID:27899157|PMID:28492532|PMID:30103258
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:68493	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:10369247|PMID:11038323|PMID:12907682|PMID:19246354|PMID:20887963|PMID:25741868|PMID:28492532
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:10892	hypospadias		ISO	RGD:68493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:11383	cryptorchidism		ISO	RGD:68493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism	PMID:17656604|PMID:17694559|PMID:24434652|PMID:25741868|PMID:27899157|PMID:28492532|PMID:30103258|PMID:33296094
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:12336	male infertility		ISO	RGD:68493	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Male infertility	PMID:25741868
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:13938	amenorrhea		ISO	RGD:68493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:17656604|PMID:17694559|PMID:24434652|PMID:25741868|PMID:27899157|PMID:28492532|PMID:30103258
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:14227	azoospermia		ISO	RGD:68493	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Azoospermia	PMID:25741868|PMID:27378692|PMID:27490115|PMID:28033660|PMID:28492532
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:14447	gonadal dysgenesis		ISO	RGD:68493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gonadal dysgenesis	PMID:25741868|PMID:33296094
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:14447	gonadal dysgenesis	treatment	ISO	RGD:68350	D	RGD:9068941	20200609	RGD			PMID:16467257|REF_RGD_ID:12904919
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:14448	46,XY complete gonadal dysgenesis		ISO	RGD:68493	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10369247|PMID:11932325|PMID:15070943
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:14450	46 XX gonadal dysgenesis		ISO	RGD:68493	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19246354
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:1909	melanoma		ISO	RGD:68493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:1923	disorder of sexual development		ISO	RGD:68493	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30425642|PMID:31513305|PMID:31852928|PMID:35432193|PMID:35935368|PMID:38168586|PMID:9536098
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:1924	hypogonadism		ISO	RGD:68493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypergonadotropic hypogonadism	PMID:25741868|PMID:28492532
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:289	endometriosis		ISO	RGD:68493	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17519303
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:5003	eunuchism		ISO	RGD:68493	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Male hypogonadism	PMID:25741868|PMID:27378692|PMID:27490115|PMID:28033660|PMID:28492532
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:68493	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:68493	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19246354
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:68493	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:22028768|PMID:22907560|PMID:23154282|PMID:25122490|PMID:25383892|PMID:25741868|PMID:27169744|PMID:28492532
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:68493	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868|PMID:28492532
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:68493	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:22028768|PMID:22907560|PMID:25122490|PMID:25741868|PMID:27169744|PMID:28492532|PMID:30425642
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:68493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:17656604|PMID:17694559|PMID:22028768|PMID:22907560|PMID:24434652|PMID:25122490|PMID:25741868|PMID:27169744|PMID:27899157|PMID:28492532|PMID:30103258|PMID:30425642
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:68493	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:17656604|PMID:17694559|PMID:22028768|PMID:24434652|PMID:25122490|PMID:25741868|PMID:27169744|PMID:27899157|PMID:28492532|PMID:30103258|PMID:30425642
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:630	genetic disease		ISO	RGD:68493	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:9001239	Delayed Puberty		ISO	RGD:68493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25741868
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:9001878	Disorders of Environmental Origin		ISO	RGD:68350	D	RGD:9068941	20250717	RGD		associated with BBOP exposure; mRNA, protein:decreased expression:adrenal cortex	PMID:35762508|REF_RGD_ID:617212669
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:68493	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23291911
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:68493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:9003503	Penis Agenesis		ISO	RGD:68493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868|PMID:28492532|PMID:30425642|PMID:31513305
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:9003766	46, XY Disorders of Sex Development		ISO	RGD:68493	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: 46,XY disorder of sex development | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY	PMID:10369247|PMID:12907682|PMID:17694559|PMID:19246354|PMID:19269353|PMID:20887963|PMID:22028768|PMID:24434652|PMID:25122490|PMID:25741868|PMID:27169744|PMID:27378692|PMID:27490115|PMID:27899157|PMID:28033660|PMID:28492532|PMID:30425642|PMID:31513305
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:9008622	Adrenal Insufficiency		ISO	RGD:68493	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10369247
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:905	Zellweger syndrome		ISO	RGD:68493	D	RGD:9068941	20200609	RGD		DNA:deletions, missense mutations, nonsense mutation: exon:multiple	PMID:16141001|REF_RGD_ID:11062374
8708085	Nr5a1	nuclear receptor subfamily 5 group A member 1	gene	DOID:9970	obesity		ISO	RGD:68493	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:27378692|PMID:27490115|PMID:28033660|PMID:28492532
8708100	Aldh3a2	aldehyde dehydrogenase 3 family member A2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737085	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8708100	Aldh3a2	aldehyde dehydrogenase 3 family member A2	gene	DOID:0050486	exanthem		ISO	RGD:737085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skin rash	PMID:10577908|PMID:10854114|PMID:25741868|PMID:28492532
8708100	Aldh3a2	aldehyde dehydrogenase 3 family member A2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:737085	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8708100	Aldh3a2	aldehyde dehydrogenase 3 family member A2	gene	DOID:1324	lung cancer		ISO	RGD:737085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8708100	Aldh3a2	aldehyde dehydrogenase 3 family member A2	gene	DOID:14501	Sjogren-Larsson syndrome		ISO	RGD:737085	D	RGD:7240710	20180130	OMIM			
8708100	Aldh3a2	aldehyde dehydrogenase 3 family member A2	gene	DOID:14501	Sjogren-Larsson syndrome		ISO	RGD:737085	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: ALDH3A2-related condition | ClinVar Annotator: match by term: FALDH DEFICIENCY | ClinVar Annotator: match by term: SJOGREN-LARSSON SYNDROME | ClinVar Annotator: match by term: Sjogren-Larsson syndrome | ClinVar Annotator: match by term: Sjögren-Larsson syndrome	PMID:10384396|PMID:10577908|PMID:10792573|PMID:10854114|PMID:11408337|PMID:15241804|PMID:15931689|PMID:16199547|PMID:16476818|PMID:16536828|PMID:16546179|PMID:16837225|PMID:16903323|PMID:17576681|PMID:17902024|PMID:17971613|PMID:17998529|PMID:18035827|PMID:19124283|PMID:19197545|PMID:19965611|PMID:20049467|PMID:20883264|PMID:21531120|PMID:21713441|PMID:21872273|PMID:21968182|PMID:22397046|PMID:23034980|PMID:23450279|PMID:24033266|PMID:24101836|PMID:25047030|PMID:25532748|PMID:25741868|PMID:25855245|PMID:27717089|PMID:28025403|PMID:28257279|PMID:28471629|PMID:28492532|PMID:29071827|PMID:29159939|PMID:29183715|PMID:29375833|PMID:29704247|PMID:30157790|PMID:30372562|PMID:30925032|PMID:31273323|PMID:31475473|PMID:31642606|PMID:31953843|PMID:32005694|PMID:32180488|PMID:32395410|PMID:32506993|PMID:34082469|PMID:35973883|PMID:9204959|PMID:9250352|PMID:9254849|PMID:9441870|PMID:9467812|PMID:9536098|PMID:9829906
8708100	Aldh3a2	aldehyde dehydrogenase 3 family member A2	gene	DOID:1826	epilepsy		ISO	RGD:737085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10577908|PMID:10854114|PMID:25741868|PMID:28492532
8708100	Aldh3a2	aldehyde dehydrogenase 3 family member A2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:737085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8708100	Aldh3a2	aldehyde dehydrogenase 3 family member A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737085	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708100	Aldh3a2	aldehyde dehydrogenase 3 family member A2	gene	DOID:630	genetic disease		ISO	RGD:737085	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8708100	Aldh3a2	aldehyde dehydrogenase 3 family member A2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:737085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8708100	Aldh3a2	aldehyde dehydrogenase 3 family member A2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8708122	Efna1	ephrin A1	gene	DOID:10534	stomach cancer		ISO	RGD:730990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8708122	Efna1	ephrin A1	gene	DOID:4362	cervical cancer		ISO	RGD:730990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8708122	Efna1	ephrin A1	gene	DOID:5041	esophageal cancer		ISO	RGD:730990	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8708122	Efna1	ephrin A1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:730990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8708122	Efna1	ephrin A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708122	Efna1	ephrin A1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730990	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20154726
8708122	Efna1	ephrin A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8708132	Tnfaip8l2	TNF alpha induced protein 8 like 2	gene	DOID:0080600	COVID-19		ISO	RGD:1606238	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:25741868|PMID:28492532
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:0050451	Brugada syndrome		ISO	RGD:735686	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:25741868|PMID:28492532
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:735686	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome	PMID:28492532
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:735686	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Loeys-Dietz syndrome	PMID:23824657|PMID:25741868|PMID:25835445|PMID:26188975|PMID:28492532|PMID:39653386
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:735686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27356075
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:0060249	scoliosis		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:0070233	Loeys-Dietz syndrome 4		ISO	RGD:735686	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Loeys-Dietz syndrome 4	PMID:24798638|PMID:25835445|PMID:2618446|PMID:28425089|PMID:28492532
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:0070236	Loeys-Dietz syndrome 5		ISO	RGD:735686	D	RGD:7240710	20180130	OMIM			
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:0070236	Loeys-Dietz syndrome 5		ISO	RGD:735686	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LOEYS-DIETZ SYNDROME 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 5 | ClinVar Annotator: match by term: Rienhoff syndrome	PMID:16199547|PMID:1631557|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22943793|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24798638|PMID:25351510|PMID:25447171|PMID:25741868|PMID:25835445|PMID:2618446|PMID:26184463|PMID:26188975|PMID:28166282|PMID:28425089|PMID:28492532|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29551499|PMID:29907982|PMID:30675029|PMID:31898322|PMID:32746448|PMID:32897753|PMID:34659991|PMID:35903967|PMID:35918752|PMID:36973604|PMID:37813462|PMID:38041506|PMID:38958168|PMID:39653386|PMID:9536098|PMID:9683588
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:0080169	tricuspid atresia		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tricuspid atresia	PMID:25741868
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:28492532|PMID:31898322
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:0110070	arrhythmogenic right ventricular dysplasia 1		ISO	RGD:735686	D	RGD:7240710	20180130	OMIM			
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:0110070	arrhythmogenic right ventricular dysplasia 1		ISO	RGD:735686	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: TGFB3-related condition	PMID:15639475|PMID:23824657|PMID:23861362|PMID:25741868|PMID:25835445|PMID:26188975|PMID:28166282|PMID:28492532|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29551499|PMID:29907982|PMID:30675029|PMID:31898322|PMID:32746448|PMID:32897753|PMID:35819174|PMID:35903967|PMID:35918752|PMID:36973604|PMID:39653386
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:10534	stomach cancer		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:1059	intellectual disability		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:10763	hypertension	no_association	ISO	RGD:735686	D	RGD:9068941	20200609	RGD		DNA:polymorphism, SNPs	PMID:15924806|REF_RGD_ID:1625704
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:1115	sarcoma		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:11502	mitral valve insufficiency		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral regurgitation	PMID:28492532|PMID:31898322
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735686	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy	PMID:25741868|PMID:28492532
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:735686	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24238504|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28087566|PMID:28166282|PMID:28240702|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29907982|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:7737999|PMID:9536098|PMID:9683588
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:735686	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24238504|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28087566|PMID:28166282|PMID:28240702|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29907982|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:34659991|PMID:7737999|PMID:9536098|PMID:9683588
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:735686	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24238504|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28087566|PMID:28166282|PMID:28240702|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29551499|PMID:29907982|PMID:30675029|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:34659991|PMID:36973604|PMID:7737999|PMID:9536098|PMID:9683588
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:735686	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28166282|PMID:28240702|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29551499|PMID:29907982|PMID:30675029|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:34659991|PMID:35819174|PMID:36973604|PMID:7737999|PMID:9536098|PMID:9683588
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:735686	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28087566|PMID:28166282|PMID:28240702|PMID:28341588|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29551499|PMID:29907982|PMID:30675029|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:34659991|PMID:35819174|PMID:35903967|PMID:35918752|PMID:36973604|PMID:38041506|PMID:7737999|PMID:9536098|PMID:9683588
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:735686	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16199547|PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28166282|PMID:28240702|PMID:28341588|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29551499|PMID:29907982|PMID:30675029|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:34659991|PMID:35819174|PMID:35903967|PMID:35918752|PMID:36973604|PMID:38041506|PMID:7737999|PMID:9536098|PMID:9683588
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:735686	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16199547|PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28166282|PMID:28240702|PMID:28341588|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29551499|PMID:29907982|PMID:30675029|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:34659991|PMID:35819174|PMID:35903967|PMID:35918752|PMID:36973604|PMID:38041506|PMID:39653386|PMID:7737999|PMID:9536098|PMID:9683588
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:735686	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:25351510|PMID:25447171|PMID:25741868|PMID:25835445|PMID:26188975|PMID:28166282|PMID:28492532|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29551499|PMID:30675029|PMID:31898322|PMID:32897753|PMID:34659991|PMID:35903967|PMID:35918752|PMID:36973604|PMID:38041506|PMID:38958168|PMID:39653386|PMID:9536098
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:1657	ventricular septal defect		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:735686	D	RGD:9068941	20200609	RGD			PMID:18360718|REF_RGD_ID:13432091
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:2340	craniosynostosis		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:2843	long QT syndrome		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:28492532
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:3498	pancreatic ductal adenocarcinoma	ameliorates	ISO	RGD:735686	D	RGD:9068941	20221027	RGD		protein:decreased expression:pancreas (human)	PMID:8253361|REF_RGD_ID:155630628
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:5041	esophageal cancer		ISO	RGD:735686	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:540	strabismus		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:57	aortic valve insufficiency		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic regurgitation	PMID:25741868|PMID:28492532
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:674	cleft palate		ISO	RGD:733158	D	RGD:9068941	20200609	RGD			PMID:17097601|REF_RGD_ID:12801424
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:674	cleft palate		ISO	RGD:735686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26971374|PMID:7493022
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:865	vasculitis		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasculitis	PMID:25741868
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:9001224	Striae Distensae		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:25741868|PMID:28492532
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:3851	D	RGD:9068941	20200609	RGD			PMID:18205704|REF_RGD_ID:2292158
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:9002189	High Myopia		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:25741868
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:9003133	Hypertelorism		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:9005077	Joint Instability		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:9005890	Disproportionate Tall Stature		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate tall stature	PMID:25741868
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:3851	D	RGD:9068941	20230527	RGD		mRNA:increased expression:carotic artery (rat)	PMID:9622270|REF_RGD_ID:329845558
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:9007033	Ventricular Premature Complexes		ISO	RGD:735686	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ventricular contraction	
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:9007573	Flatfoot		ISO	RGD:735686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:28492532|PMID:31898322
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:9007870	Respiratory System Abnormalities		ISO	RGD:735686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7493022
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:9008582	Developmental Disease		ISO	RGD:735686	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:23824657|PMID:25741868|PMID:25835445|PMID:26188975|PMID:28492532
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:735686	D	RGD:9068941	20200609	RGD			PMID:12778073|REF_RGD_ID:13432088
8708144	Tgfb3	transforming growth factor beta 3	gene	DOID:9743	diabetic neuropathy		ISO	RGD:3851	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA:increased expression:sciatic nerve	PMID:18406405|REF_RGD_ID:2302086
8708155	Rragb	Ras related GTP binding B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8708155	Rragb	Ras related GTP binding B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8708155	Rragb	Ras related GTP binding B	gene	DOID:10534	stomach cancer		ISO	RGD:1343212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8708155	Rragb	Ras related GTP binding B	gene	DOID:1115	sarcoma		ISO	RGD:1343212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8708155	Rragb	Ras related GTP binding B	gene	DOID:12849	autistic disorder		ISO	RGD:1343212	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism	
8708155	Rragb	Ras related GTP binding B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8708155	Rragb	Ras related GTP binding B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708155	Rragb	Ras related GTP binding B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:16199547|PMID:20074988|PMID:23714749|PMID:25741868|PMID:28492532
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:0070329	mitochondrial DNA depletion syndrome		ISO	RGD:1353525	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome	PMID:17576681|PMID:18329934|PMID:20614188|PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532|PMID:32827528|PMID:37184518|PMID:38180987|PMID:9536098
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:0080121	mitochondrial DNA depletion syndrome 3		ISO	RGD:1619253	D	RGD:9068941	20220825	MouseDO		OMIM:251880	
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:0080125	mitochondrial DNA depletion syndrome 6		ISO	RGD:1353525	D	RGD:7240710	20180130	OMIM			
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:0080125	mitochondrial DNA depletion syndrome 6		ISO	RGD:1353525	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	PMID:16199547|PMID:16582910|PMID:16909392|PMID:17576681|PMID:17694548|PMID:18261905|PMID:18695062|PMID:19012992|PMID:19520594|PMID:20074988|PMID:22508010|PMID:22964873|PMID:23714749|PMID:23829229|PMID:24190800|PMID:25016221|PMID:25129007|PMID:25741868|PMID:25861990|PMID:26437932|PMID:26467025|PMID:26741492|PMID:27536553|PMID:27848944|PMID:28207748|PMID:28209105|PMID:28492532|PMID:28673863|PMID:28776642|PMID:29282788|PMID:29318572|PMID:30273399|PMID:30298599|PMID:30782936|PMID:30833296|PMID:31319225|PMID:31664948|PMID:31673878|PMID:31674169|PMID:32703289|PMID:33258288|PMID:33486010|PMID:34476298|PMID:34979697|PMID:36753038|PMID:37712079|PMID:38703036|PMID:9536098
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:0080125	mitochondrial DNA depletion syndrome 6		ISO	RGD:1353525	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) | ClinVar Annotator: match by term: MPV17-related mitochondrial DNA maintenance defect | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 6 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | ClinVar Annotator: match by term: Navajo neurohepatopathy	PMID:16199547|PMID:17694548|PMID:18695062|PMID:19520594|PMID:20074988|PMID:23714749|PMID:23829229|PMID:25129007|PMID:25741868|PMID:27536553|PMID:28207748|PMID:28492532|PMID:29282788|PMID:29318572|PMID:30782936|PMID:31319225|PMID:32827528|PMID:36753038|PMID:37184518|PMID:37712079|PMID:38180987
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:0110033	Alport syndrome 2		ISO	RGD:1619253	D	RGD:9068941	20220825	MouseDO		OMIM:203780	
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:0111559	Charcot-Marie-Tooth disease type 2EE		ISO	RGD:1353525	D	RGD:7240710	20190515	OMIM			
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:0111559	Charcot-Marie-Tooth disease type 2EE		ISO	RGD:1353525	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE | ClinVar Annotator: match by term: MPV17-related condition	PMID:16199547|PMID:17576681|PMID:19520594|PMID:20074988|PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532|PMID:31664948|PMID:32827528|PMID:37184518|PMID:38180987|PMID:9536098
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:10123	pigmentation disease		ISO	RGD:1353525	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18818194
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:10534	stomach cancer		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:11830	myopia		ISO	RGD:1353525	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532|PMID:32827528|PMID:37184518|PMID:38180987
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1619253	D	RGD:9068941	20220825	MouseDO		OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861	
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:23714749|PMID:25741868
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1353525	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18818194
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:13580	cholestasis		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:25741868
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:1596	depressive disorder		ISO	RGD:1353525	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Depression	PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532|PMID:32827528|PMID:37184518|PMID:38180987
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:1826	epilepsy		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:23714749|PMID:25741868
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:1909	melanoma		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:2030	anxiety disorder		ISO	RGD:1353525	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532|PMID:32827528|PMID:37184518|PMID:38180987
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:3087	gingivitis		ISO	RGD:1353525	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532|PMID:32827528|PMID:37184518|PMID:38180987
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:5463	cochlear disease		ISO	RGD:1353525	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18818194
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:576	proteinuria		ISO	RGD:1353525	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18818194
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:630	genetic disease		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1353525	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:18818194
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:824	periodontitis		ISO	RGD:1353525	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532|PMID:32827528|PMID:37184518|PMID:38180987
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:870	neuropathy		ISO	RGD:1353525	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: peripheral neuropathy	PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:9000761	Deoxyguanosine Kinase Deficiency		ISO	RGD:1353525	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hepatocerebral Mitochondrial DNA Depletion Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome, hepatocerebral form	PMID:16199547|PMID:16582910|PMID:16909392|PMID:17694548|PMID:18261905|PMID:18695062|PMID:19012992|PMID:19520594|PMID:19748572|PMID:20074988|PMID:22508010|PMID:22964873|PMID:23714749|PMID:23829229|PMID:24190800|PMID:25129007|PMID:25741868|PMID:25861990|PMID:26437932|PMID:26467025|PMID:26741492|PMID:27536553|PMID:28209105|PMID:28492532|PMID:28673863|PMID:28776642|PMID:29282788|PMID:30273399|PMID:30298599|PMID:30833296|PMID:31319225|PMID:32703289|PMID:32827528|PMID:33242146|PMID:33486010|PMID:34476298|PMID:34624274|PMID:34979697|PMID:36753038|PMID:37184518|PMID:38180987
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:23714749|PMID:25741868
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1353525	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532|PMID:32827528|PMID:37184518|PMID:38180987
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:9006030	Infant Death		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Death in infancy	PMID:23714749|PMID:25741868
8708176	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:9452	steatotic liver disease		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:23714749|PMID:25741868
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:15364249|PMID:16969763|PMID:17576681|PMID:22888088|PMID:25741868|PMID:28492532|PMID:28559085|PMID:31054281|PMID:33576794|PMID:35432464|PMID:36445968|PMID:9536098
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1352855	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness	
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:11992260|PMID:14564670|PMID:15364249|PMID:16055928|PMID:16969763|PMID:17576681|PMID:22264887|PMID:22888088|PMID:23372056|PMID:25741868|PMID:26093275|PMID:28492532|PMID:28559085|PMID:28863407|PMID:30718709|PMID:31054281|PMID:31953110|PMID:32702353|PMID:33090715|PMID:33576794|PMID:34906470|PMID:34985506|PMID:35432464|PMID:36445968|PMID:9536098
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0050795	cone dystrophy		ISO	RGD:1352855	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cone dystrophy	PMID:11875055|PMID:22264887|PMID:25741868|PMID:28492532|PMID:29785639
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0110413	retinitis pigmentosa 6		ISO	RGD:1352855	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 6	PMID:25741868
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0110414	retinitis pigmentosa 3		ISO	RGD:1352855	D	RGD:7240710	20180130	OMIM			
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0110414	retinitis pigmentosa 3		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHOROIDORETINAL DEGENERATION WITH RETINAL REFLEX IN HETEROZYGOUS WOMEN | ClinVar Annotator: match by term: Choroidoretinal degeneration with retinal reflex in heterozygous women | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 3 | ClinVar Annotator: match by term: Retinitis pigmentosa 3	PMID:10932196|PMID:10937588|PMID:11754050|PMID:11992260|PMID:12657579|PMID:14564670|PMID:15364249|PMID:15734019|PMID:16055928|PMID:16969763|PMID:17405150|PMID:17576681|PMID:17923551|PMID:19429592|PMID:19815619|PMID:20631154|PMID:21857984|PMID:21866333|PMID:22264887|PMID:22888088|PMID:23150612|PMID:23213406|PMID:23372056|PMID:24033266|PMID:25356976|PMID:25741868|PMID:25741869|PMID:26093275|PMID:26143542|PMID:28322733|PMID:28492532|PMID:28559085|PMID:28863407|PMID:30543658|PMID:31054281|PMID:31645972|PMID:31953110|PMID:31960602|PMID:32679846|PMID:32702353|PMID:33546218|PMID:33576794|PMID:34828430|PMID:34906470|PMID:34985506|PMID:35166581|PMID:35432464|PMID:36259723|PMID:36276946|PMID:36284670|PMID:36445968|PMID:3646071|PMID:37107692|PMID:38117582|PMID:9399904|PMID:9536098|PMID:9855162
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0111008	X-linked cone-rod dystrophy 1		ISO	RGD:1352855	D	RGD:7240710	20180130	OMIM			
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0111008	X-linked cone-rod dystrophy 1		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CONE-ROD DYSTROPHY, X-LINKED, 1 | ClinVar Annotator: match by term: X-LINKED ROD CONE DYSTROPHY | ClinVar Annotator: match by term: X-linked cone-rod dystrophy 1	PMID:16055928|PMID:16199547|PMID:16969763|PMID:22264887|PMID:24033266|PMID:25741868|PMID:26093275|PMID:28492532|PMID:32856788|PMID:35432464|PMID:36882936
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0112124	X-linked retinitis pigmentosa and sinorespiratory infections		ISO	RGD:1352855	D	RGD:7240710	20180130	OMIM			
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0112124	X-linked retinitis pigmentosa and sinorespiratory infections		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness	PMID:24033266|PMID:25741868|PMID:28492532|PMID:8673101
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0112157	X-linked atrophic macular degeneration		ISO	RGD:1352855	D	RGD:7240710	20180130	OMIM			
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0112157	X-linked atrophic macular degeneration		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MACULAR DEGENERATION, ATROPHIC, X-LINKED | ClinVar Annotator: match by term: Macular degeneration, X-linked atrophic	PMID:12160730|PMID:22264887|PMID:24033266|PMID:25741868|PMID:28492532
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10485	esophageal atresia		ISO	RGD:1352855	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:11992260|PMID:16055928|PMID:16969763|PMID:17480003|PMID:20861475|PMID:23372056|PMID:25741868|PMID:26143542|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:11992260|PMID:16055928|PMID:16969763|PMID:17480003|PMID:23372056|PMID:25741868|PMID:26143542|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12657579|PMID:16055928|PMID:16969763|PMID:17195164|PMID:17480003|PMID:23150612|PMID:23372056|PMID:25741868|PMID:26143542|PMID:27236918|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:8673101|PMID:8817343|PMID:9536098
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:8673101|PMID:8817343|PMID:9536098
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30289068|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:34985506|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30289068|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:34985506|PMID:36909829|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23443027|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30289068|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32036094|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:34985506|PMID:36909829|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:14691151|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23443027|PMID:23681342|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:27995965|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30193314|PMID:30289068|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:31953110|PMID:32036094|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:34985506|PMID:36909829|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:14691151|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23443027|PMID:23681342|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:27995965|PMID:28041643|PMID:28322733|PMID:28492532|PMID:288634|PMID:28863407|PMID:29276052|PMID:30029497|PMID:30193314|PMID:30289068|PMID:30543658|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:31953110|PMID:32036094|PMID:3214136|PMID:32531858|PMID:32679846|PMID:32702353|PMID:32795431|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34906470|PMID:34985506|PMID:35432464|PMID:35806195|PMID:36276946|PMID:36460718|PMID:36909829|PMID:36996441|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10482958|PMID:10932196|PMID:11992260|PMID:12402343|PMID:16055928|PMID:16199547|PMID:16969763|PMID:17195164|PMID:17576681|PMID:17724181|PMID:18552978|PMID:20861475|PMID:22264887|PMID:23213406|PMID:23372056|PMID:23443027|PMID:25741868|PMID:26261414|PMID:28322733|PMID:28492532|PMID:28863407|PMID:29276052|PMID:30622176|PMID:30718709|PMID:31456290|PMID:31953110|PMID:32036094|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:34985506|PMID:36909829|PMID:8673101|PMID:8817343|PMID:9536098
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:12336	male infertility		ISO	RGD:1557212	D	RGD:9068941	20200609	RGD			PMID:18579752|REF_RGD_ID:8553213
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1352855	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:25741868
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:14791	Leber congenital amaurosis	treatment	ISO	RGD:1557212	D	RGD:9068941	20200609	RGD			PMID:20384479|REF_RGD_ID:8553217
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:1909	melanoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:24033266|PMID:25741868|PMID:28492532
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:3275	thymoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:24033266|PMID:25741868|PMID:28492532
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:4448	macular degeneration		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	PMID:25741868|PMID:28492532
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:24033266|PMID:25741868|PMID:28492532
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:5679	retinal disease		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:10480356|PMID:10932196|PMID:11754050|PMID:16055928|PMID:16969763|PMID:17195164|PMID:22264887|PMID:23150612|PMID:23372056|PMID:25741868|PMID:27620828|PMID:28492532|PMID:31953110|PMID:32036094|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34985506|PMID:35432464|PMID:36276946|PMID:36460718|PMID:36996441|PMID:8673101
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:5723	optic atrophy		ISO	RGD:1352855	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:6039	uveal melanoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:24033266|PMID:25741868|PMID:28492532
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:28492532
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:8466	retinal degeneration		ISO	RGD:1352855	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:19430481
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:8466	retinal degeneration		ISO	RGD:1557212	D	RGD:9068941	20260709	RGD			PMID:15671266|REF_RGD_ID:8553201
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:8501	fundus dystrophy		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10480356|PMID:10482958|PMID:10737996|PMID:10932196|PMID:10937588|PMID:11180598|PMID:11992260|PMID:12402343|PMID:12657579|PMID:14564670|PMID:14691151|PMID:15364249|PMID:15734019|PMID:16055928|PMID:16199547|PMID:16387007|PMID:16969763|PMID:17195164|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19429592|PMID:19815619|PMID:20631154|PMID:21326217|PMID:21857984|PMID:21866333|PMID:22264887|PMID:22888088|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23681342|PMID:24033266|PMID:25283059|PMID:25352739|PMID:25356976|PMID:2552515|PMID:25741868|PMID:26197217|PMID:26747767|PMID:26766544|PMID:26872967|PMID:27620828|PMID:27995965|PMID:28322733|PMID:28492532|PMID:28559085|PMID:288634|PMID:28863407|PMID:28912962|PMID:29528978|PMID:29721948|PMID:30193314|PMID:30313097|PMID:30543658|PMID:30622176|PMID:30718709|PMID:30917587|PMID:30924848|PMID:31054281|PMID:31087526|PMID:31213501|PMID:31456290|PMID:31630094|PMID:31645972|PMID:31804667|PMID:31816670|PMID:31953110|PMID:32000842|PMID:32037395|PMID:32100970|PMID:3214136|PMID:3253185|PMID:32531858|PMID:32702353|PMID:32788070|PMID:32795431|PMID:33090715|PMID:33355362|PMID:33467000|PMID:33576794|PMID:34448047|PMID:34745198|PMID:34828430|PMID:34906470|PMID:349855|PMID:34985506|PMID:35432464|PMID:3580619|PMID:35806195|PMID:36276946|PMID:36445968|PMID:3646071|PMID:36460718|PMID:36819107|PMID:36882936|PMID:38219857|PMID:38576124|PMID:8673101|PMID:8817343|PMID:9326322|PMID:9399904|PMID:9536098|PMID:9855162
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1352855	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia | ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME	PMID:10480356|PMID:10482958|PMID:10737996|PMID:10932196|PMID:10937588|PMID:10946359|PMID:11180598|PMID:11754050|PMID:11793468|PMID:11857109|PMID:11875055|PMID:11992260|PMID:12160730|PMID:12402343|PMID:12657579|PMID:12859409|PMID:14564670|PMID:15734019|PMID:16055928|PMID:16199547|PMID:16387007|PMID:16786505|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17405150|PMID:17480003|PMID:17576681|PMID:17724181|PMID:17898302|PMID:18332319|PMID:18487280|PMID:18552978|PMID:19138872|PMID:19218993|PMID:19475717|PMID:19783189|PMID:19815619|PMID:20631154|PMID:20861475|PMID:21326217|PMID:21857984|PMID:21866333|PMID:22264887|PMID:22382802|PMID:22494545|PMID:22888088|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23591405|PMID:23681342|PMID:23847139|PMID:23950152|PMID:24033266|PMID:25097241|PMID:25356976|PMID:25640679|PMID:25741868|PMID:26261414|PMID:26747767|PMID:26766544|PMID:27620828|PMID:27768226|PMID:28041643|PMID:28127548|PMID:28322733|PMID:28492532|PMID:28559085|PMID:28863407|PMID:28912962|PMID:29276052|PMID:29453956|PMID:29528978|PMID:29555955|PMID:29641573|PMID:29721948|PMID:29785639|PMID:30029497|PMID:30067075|PMID:30105367|PMID:30193314|PMID:30337596|PMID:30543658|PMID:30622176|PMID:30718709|PMID:30902645|PMID:30917587|PMID:30924848|PMID:31054281|PMID:31087526|PMID:31456290|PMID:31630094|PMID:31645972|PMID:31804667|PMID:31953110|PMID:31960602|PMID:32000842|PMID:32037395|PMID:32531858|PMID:32679846|PMID:32702353|PMID:32788070|PMID:32856788|PMID:33090715|PMID:33355362|PMID:33546218|PMID:33576794|PMID:34906470|PMID:34946927|PMID:35892439|PMID:8673101|PMID:8817343|PMID:9326322|PMID:9331262|PMID:9399904|PMID:9536098|PMID:9855162|PMID:9990021
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:9004538	Hearing Loss		ISO	RGD:1352855	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12920075
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:24033266|PMID:25741868|PMID:28492532
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:9008680	Respiratory Tract Infections		ISO	RGD:1352855	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12920075
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:24033266|PMID:25741868|PMID:28492532
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:9256	colorectal cancer		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:24033266|PMID:25741868|PMID:28492532
8708204	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:10480356|PMID:10482958|PMID:10737996|PMID:10932196|PMID:10937588|PMID:10980543|PMID:11180598|PMID:11754050|PMID:11857109|PMID:11968081|PMID:11992260|PMID:12402343|PMID:12657579|PMID:12859409|PMID:14564670|PMID:14691151|PMID:15364249|PMID:15734019|PMID:16055928|PMID:16199547|PMID:16969763|PMID:17195164|PMID:17576681|PMID:17724181|PMID:17898302|PMID:18552978|PMID:19218993|PMID:19429592|PMID:19815619|PMID:20591486|PMID:20631154|PMID:20861475|PMID:21857984|PMID:21866333|PMID:22264887|PMID:22888088|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23443027|PMID:23591405|PMID:23681342|PMID:23847139|PMID:23950152|PMID:24033266|PMID:25283059|PMID:25356976|PMID:25640679|PMID:25741868|PMID:26093275|PMID:26747767|PMID:26766544|PMID:27620828|PMID:27768226|PMID:27995965|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28322733|PMID:28492532|PMID:28559085|PMID:28863407|PMID:29555955|PMID:29641573|PMID:30067075|PMID:30105367|PMID:30193314|PMID:30337596|PMID:30543658|PMID:30622176|PMID:30902645|PMID:31054281|PMID:31456290|PMID:31645972|PMID:31652454|PMID:31953110|PMID:31960602|PMID:32000842|PMID:32037395|PMID:32326409|PMID:32531858|PMID:32679846|PMID:32702353|PMID:33090715|PMID:33247286|PMID:33355362|PMID:33467000|PMID:33546218|PMID:33576794|PMID:34828430|PMID:34906470|PMID:34946927|PMID:34985506|PMID:35119454|PMID:35432464|PMID:35806195|PMID:35836572|PMID:35892439|PMID:36445968|PMID:3646071|PMID:36460718|PMID:36464167|PMID:36819107|PMID:37217489|PMID:37854381|PMID:38219857|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098|PMID:9855162
8708231	Psph	phosphoserine phosphatase	gene	DOID:0050721	serine deficiency		ISO	RGD:1318726	D	RGD:8554872	20250527	ClinVar		ClinVar Annotator: match by term: neurometabolic disorder due to serine deficiency	PMID:24033266|PMID:25741868
8708231	Psph	phosphoserine phosphatase	gene	DOID:0050724	PSPH deficiency		ISO	RGD:1318726	D	RGD:7240710	20180130	OMIM			
8708231	Psph	phosphoserine phosphatase	gene	DOID:0050724	PSPH deficiency		ISO	RGD:1318726	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PHOSPHOSERINE PHOSPHATASE DEFICIENCY | ClinVar Annotator: match by term: PSPH deficiency | ClinVar Annotator: match by term: PSPH-related condition	PMID:25741868|PMID:28492532
8708231	Psph	phosphoserine phosphatase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8708231	Psph	phosphoserine phosphatase	gene	DOID:10534	stomach cancer		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8708231	Psph	phosphoserine phosphatase	gene	DOID:1059	intellectual disability		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:14673469|PMID:25741868
8708231	Psph	phosphoserine phosphatase	gene	DOID:10907	microcephaly		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:14673469|PMID:25741868
8708231	Psph	phosphoserine phosphatase	gene	DOID:1115	sarcoma		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8708231	Psph	phosphoserine phosphatase	gene	DOID:12849	autistic disorder		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:14673469|PMID:25741868
8708231	Psph	phosphoserine phosphatase	gene	DOID:1826	epilepsy		ISO	RGD:1318726	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizures	
8708231	Psph	phosphoserine phosphatase	gene	DOID:1826	epilepsy		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:14673469|PMID:25741868
8708231	Psph	phosphoserine phosphatase	gene	DOID:1909	melanoma		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8708231	Psph	phosphoserine phosphatase	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1318726	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta	PMID:28492532
8708231	Psph	phosphoserine phosphatase	gene	DOID:3275	thymoma		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8708231	Psph	phosphoserine phosphatase	gene	DOID:4362	cervical cancer		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8708231	Psph	phosphoserine phosphatase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8708231	Psph	phosphoserine phosphatase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8708231	Psph	phosphoserine phosphatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708231	Psph	phosphoserine phosphatase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8708231	Psph	phosphoserine phosphatase	gene	DOID:630	genetic disease		ISO	RGD:1318726	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
8708231	Psph	phosphoserine phosphatase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8708231	Psph	phosphoserine phosphatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8708231	Psph	phosphoserine phosphatase	gene	DOID:9008397	Maternal Phenylketonuria		ISO	RGD:1308764	D	RGD:9068941	20200609	RGD			PMID:7201630|REF_RGD_ID:2308873
8708231	Psph	phosphoserine phosphatase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8708231	Psph	phosphoserine phosphatase	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:1318726	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14673469
8708247	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8708247	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8708247	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8708247	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:1115	sarcoma		ISO	RGD:1320262	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8708247	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8708247	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:4362	cervical cancer		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8708247	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1320262	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8708247	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708247	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8708247	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8708247	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8708247	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8708275	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:1059	intellectual disability		ISO	RGD:1344986	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	
8708275	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8708275	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8708275	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:2843	long QT syndrome		ISO	RGD:1344986	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8708275	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8708275	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1344986	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8708275	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708275	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:9003293	Li-Campeau Syndrome		ISO	RGD:1344986	D	RGD:7240710	20210303	OMIM			
8708275	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:9003293	Li-Campeau Syndrome		ISO	RGD:1344986	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: LI-CAMPEAU SYNDROME | ClinVar Annotator: match by term: Li-Campeau syndrome	PMID:25741868|PMID:33340455
8708275	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8708275	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344986	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8708275	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8708275	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8708291	Dpp7	dipeptidyl peptidase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8708291	Dpp7	dipeptidyl peptidase 7	gene	DOID:0060058	lymphoma		ISO	RGD:733882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8708291	Dpp7	dipeptidyl peptidase 7	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:733882	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
8708291	Dpp7	dipeptidyl peptidase 7	gene	DOID:10534	stomach cancer		ISO	RGD:733882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8708291	Dpp7	dipeptidyl peptidase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8708291	Dpp7	dipeptidyl peptidase 7	gene	DOID:1115	sarcoma		ISO	RGD:733882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8708291	Dpp7	dipeptidyl peptidase 7	gene	DOID:1909	melanoma		ISO	RGD:733882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8708291	Dpp7	dipeptidyl peptidase 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8708291	Dpp7	dipeptidyl peptidase 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8708291	Dpp7	dipeptidyl peptidase 7	gene	DOID:4362	cervical cancer		ISO	RGD:733882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8708291	Dpp7	dipeptidyl peptidase 7	gene	DOID:5041	esophageal cancer		ISO	RGD:733882	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8708291	Dpp7	dipeptidyl peptidase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708291	Dpp7	dipeptidyl peptidase 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8708291	Dpp7	dipeptidyl peptidase 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8708291	Dpp7	dipeptidyl peptidase 7	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:733882	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8708291	Dpp7	dipeptidyl peptidase 7	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8708291	Dpp7	dipeptidyl peptidase 7	gene	DOID:9005749	Necrosis		ISO	RGD:733882	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16725115
8708291	Dpp7	dipeptidyl peptidase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8708307	BARHL2	BarH like homeobox 2	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1344726	D	RGD:9068941	20200609	RGD			PMID:27542258|REF_RGD_ID:14390167
8708307	Barhl2	BarH like homeobox 2	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:1344726	D	RGD:9068941	20200609	RGD			PMID:27441821|REF_RGD_ID:14392685
8708307	Barhl2	BarH like homeobox 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1344726	D	RGD:9068941	20200609	RGD		associated with oral squamous cell carcinoma; mRNA:decreased expression:mouth mucosa	PMID:27542258|REF_RGD_ID:14390167
8708307	Barhl2	BarH like homeobox 2	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:1344726	D	RGD:9068941	20200609	RGD			PMID:27453340|REF_RGD_ID:14392684
8708318	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8708318	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:0060058	lymphoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8708318	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:0110306	autosomal dominant limb-girdle muscular dystrophy type 3		ISO	RGD:1320569	D	RGD:7240710	20180130	OMIM			
8708318	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:0110306	autosomal dominant limb-girdle muscular dystrophy type 3		ISO	RGD:1320569	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1G | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1G	PMID:17576681|PMID:24647604|PMID:25741868|PMID:28492532|PMID:30604053|PMID:31267206|PMID:32528171|PMID:33131168|PMID:36575883|PMID:9536098
8708318	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:24647604|PMID:25741868|PMID:28492532|PMID:31267206
8708318	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:10534	stomach cancer		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8708318	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:1115	sarcoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8708318	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:1324	lung cancer		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8708318	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:1909	melanoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8708318	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:3275	thymoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8708318	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:4362	cervical cancer		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8708318	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8708318	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708318	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:6039	uveal melanoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8708318	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8708318	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8708318	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:870	neuropathy		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868
8708318	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:24647604|PMID:25741868|PMID:28492532|PMID:31267206
8708318	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8708318	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8708318	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	PMID:25741868
8708340	Pcca	propionyl-CoA carboxylase subunit alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532
8708340	Pcca	propionyl-CoA carboxylase subunit alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:15464417|PMID:24464666|PMID:25741868|PMID:28492532
8708340	Pcca	propionyl-CoA carboxylase subunit alpha	gene	DOID:10534	stomach cancer		ISO	RGD:736733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532
8708340	Pcca	propionyl-CoA carboxylase subunit alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736733	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:11592820|PMID:15464417|PMID:16199547|PMID:24464666|PMID:25741868|PMID:27900673|PMID:28492532|PMID:28712602|PMID:29033250|PMID:38200289
8708340	Pcca	propionyl-CoA carboxylase subunit alpha	gene	DOID:1115	sarcoma		ISO	RGD:736733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8708340	Pcca	propionyl-CoA carboxylase subunit alpha	gene	DOID:1324	lung cancer		ISO	RGD:736733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532
8708340	Pcca	propionyl-CoA carboxylase subunit alpha	gene	DOID:14701	propionic acidemia		ISO	RGD:736733	D	RGD:7240710	20180130	OMIM			
8708340	Pcca	propionyl-CoA carboxylase subunit alpha	gene	DOID:14701	propionic acidemia		ISO	RGD:736733	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ketotic hyperglycinemia | ClinVar Annotator: match by term: PROPIONIC ACIDEMIA | ClinVar Annotator: match by term: Propionic Acidemia | ClinVar Annotator: match by term: Propionic acidemia | ClinVar Annotator: match by term: Propionyl-CoA carboxylase deficiency	PMID:10101253|PMID:10329019|PMID:10518292|PMID:10780784|PMID:11592820|PMID:12385775|PMID:12559849|PMID:15059621|PMID:15164333|PMID:15235904|PMID:15464417|PMID:16023992|PMID:16199547|PMID:17051315|PMID:17576681|PMID:18414145|PMID:18790721|PMID:19099776|PMID:19157943|PMID:2037281|PMID:20493181|PMID:2054936|PMID:20549364|PMID:20725044|PMID:21094621|PMID:22033733|PMID:22156789|PMID:22334403|PMID:22593918|PMID:23053474|PMID:23348723|PMID:23430860|PMID:23648696|PMID:24033266|PMID:24059531|PMID:24464666|PMID:24863100|PMID:25047749|PMID:25636094|PMID:25640679|PMID:25741868|PMID:25954003|PMID:27227689|PMID:27489777|PMID:27618451|PMID:27776753|PMID:27825584|PMID:27900673|PMID:27959697|PMID:28490743|PMID:28492532|PMID:28712602|PMID:28726123|PMID:28853722|PMID:29033250|PMID:29084941|PMID:29978829|PMID:30159853|PMID:30186825|PMID:30209273|PMID:30274917|PMID:30705822|PMID:31063319|PMID:31249402|PMID:31319225|PMID:31392117|PMID:31462756|PMID:31757659|PMID:31828787|PMID:31893529|PMID:31916709|PMID:32005694|PMID:32231837|PMID:32252659|PMID:32619257|PMID:32778825|PMID:33028371|PMID:33183246|PMID:33473339|PMID:33552909|PMID:33726816|PMID:33923806|PMID:34734058|PMID:35095998|PMID:35296328|PMID:35331292|PMID:36211601|PMID:36274442|PMID:36662638|PMID:37482098|PMID:37688338|PMID:37689673|PMID:38200289|PMID:38702429|PMID:38722054|PMID:38772378|PMID:38863445|PMID:40026238|PMID:40727219|PMID:7915138|PMID:8083196|PMID:9385377|PMID:9536098|PMID:9887338
8708340	Pcca	propionyl-CoA carboxylase subunit alpha	gene	DOID:1909	melanoma		ISO	RGD:736733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532
8708340	Pcca	propionyl-CoA carboxylase subunit alpha	gene	DOID:3275	thymoma		ISO	RGD:736733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532
8708340	Pcca	propionyl-CoA carboxylase subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:736733	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:11592820|PMID:12559849|PMID:15464417|PMID:16199547|PMID:22593918|PMID:24464666|PMID:25741868|PMID:27900673|PMID:28492532|PMID:28712602|PMID:29033250|PMID:38200289
8708340	Pcca	propionyl-CoA carboxylase subunit alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532
8708340	Pcca	propionyl-CoA carboxylase subunit alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:736733	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532
8708340	Pcca	propionyl-CoA carboxylase subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532
8708340	Pcca	propionyl-CoA carboxylase subunit alpha	gene	DOID:6039	uveal melanoma		ISO	RGD:736733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532
8708340	Pcca	propionyl-CoA carboxylase subunit alpha	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532
8708340	Pcca	propionyl-CoA carboxylase subunit alpha	gene	DOID:630	genetic disease		ISO	RGD:736733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8708340	Pcca	propionyl-CoA carboxylase subunit alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532
8708340	Pcca	propionyl-CoA carboxylase subunit alpha	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:736733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532
8708340	Pcca	propionyl-CoA carboxylase subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532
8708340	Pcca	propionyl-CoA carboxylase subunit alpha	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:736733	D	RGD:9068941	20200609	RGD		propionic acidemia, OMIM:606054, DNA:deletion:intron:1824delAAGT	PMID:9385377|REF_RGD_ID:1600306
8708340	Pcca	propionyl-CoA carboxylase subunit alpha	gene	DOID:9256	colorectal cancer		ISO	RGD:736733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532
8708382	Thap1	THAP domain containing 1	gene	DOID:0050835	generalized dystonia		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized dystonia	PMID:25741868
8708382	Thap1	THAP domain containing 1	gene	DOID:0050840	cervical dystonia		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasmodic torticollis	PMID:25741868
8708382	Thap1	THAP domain containing 1	gene	DOID:0050844	spasmodic dystonia		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Laryngeal dystonia	PMID:25741868
8708382	Thap1	THAP domain containing 1	gene	DOID:0070736	multiple mitochondrial dysfunctions syndrome 9B		ISO	RGD:1316870	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 9b	PMID:25741868|PMID:26467025|PMID:28492532
8708382	Thap1	THAP domain containing 1	gene	DOID:0090039	torsion dystonia 6		ISO	RGD:1316870	D	RGD:7240710	20180130	OMIM			
8708382	Thap1	THAP domain containing 1	gene	DOID:0090039	torsion dystonia 6		ISO	RGD:1316870	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSTONIA 6, TORSION | ClinVar Annotator: match by term: Dystonia 6, torsion | ClinVar Annotator: match by term: Torsion dystonia 6	PMID:17576681|PMID:18073205|PMID:19182804|PMID:19345147|PMID:19763152|PMID:19908320|PMID:20083799|PMID:20144952|PMID:20211909|PMID:20307669|PMID:20669277|PMID:20687193|PMID:20865765|PMID:20925076|PMID:21495072|PMID:21520283|PMID:21752024|PMID:21782490|PMID:21847143|PMID:22377579|PMID:22406018|PMID:22844099|PMID:22903657|PMID:23036512|PMID:23180184|PMID:24500857|PMID:24976531|PMID:25088175|PMID:25741868|PMID:26467025|PMID:26486352|PMID:26506956|PMID:26610312|PMID:26944167|PMID:27123488|PMID:28492532|PMID:28697333|PMID:29520331|PMID:31153764|PMID:31817799|PMID:32112337|PMID:33175450|PMID:33369735|PMID:33949708|PMID:34686877|PMID:35531120|PMID:36854336|PMID:38094642|PMID:9536098
8708382	Thap1	THAP domain containing 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
8708382	Thap1	THAP domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8708382	Thap1	THAP domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316870	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8708382	Thap1	THAP domain containing 1	gene	DOID:543	dystonia		ISO	RGD:1316870	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:32581362
8708382	Thap1	THAP domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:26467025|PMID:28492532
8708382	Thap1	THAP domain containing 1	gene	DOID:9001722	Dysarthria		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
8708382	Thap1	THAP domain containing 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
8708397	Coil	coilin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8708397	Coil	coilin	gene	DOID:1115	sarcoma		ISO	RGD:735624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8708397	Coil	coilin	gene	DOID:5041	esophageal cancer		ISO	RGD:735624	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8708397	Coil	coilin	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:735624	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5	PMID:38922859
8708397	Coil	coilin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708397	Coil	coilin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8708397	Coil	coilin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8708415	Pmvk	phosphomevalonate kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8708415	Pmvk	phosphomevalonate kinase	gene	DOID:3805	porokeratosis		ISO	RGD:1321931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Linear porokeratosis	PMID:30942823
8708415	Pmvk	phosphomevalonate kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1321931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8708415	Pmvk	phosphomevalonate kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1321931	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8708415	Pmvk	phosphomevalonate kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708415	Pmvk	phosphomevalonate kinase	gene	DOID:630	genetic disease		ISO	RGD:1321931	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8708415	Pmvk	phosphomevalonate kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8708415	Pmvk	phosphomevalonate kinase	gene	DOID:9007627	Porokeratosis 1, Multiple Types		ISO	RGD:1321931	D	RGD:7240710	20180130	OMIM			
8708415	Pmvk	phosphomevalonate kinase	gene	DOID:9007627	Porokeratosis 1, Multiple Types		ISO	RGD:1321931	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: PMVK-related condition | ClinVar Annotator: match by term: POROKERATOSIS 1, MULTIPLE TYPES	PMID:25741868|PMID:27052676|PMID:30942823
8708424	Wdr76	WD repeat domain 76	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8708424	Wdr76	WD repeat domain 76	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8708424	Wdr76	WD repeat domain 76	gene	DOID:1909	melanoma		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8708424	Wdr76	WD repeat domain 76	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8708424	Wdr76	WD repeat domain 76	gene	DOID:3275	thymoma		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8708424	Wdr76	WD repeat domain 76	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708424	Wdr76	WD repeat domain 76	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8708424	Wdr76	WD repeat domain 76	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8708424	Wdr76	WD repeat domain 76	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8708424	Wdr76	WD repeat domain 76	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8708441	Ccdc33	coiled-coil domain containing 33	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8708441	Ccdc33	coiled-coil domain containing 33	gene	DOID:10534	stomach cancer		ISO	RGD:1602211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8708441	Ccdc33	coiled-coil domain containing 33	gene	DOID:4362	cervical cancer		ISO	RGD:1602211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8708441	Ccdc33	coiled-coil domain containing 33	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8708441	Ccdc33	coiled-coil domain containing 33	gene	DOID:5041	esophageal cancer		ISO	RGD:1602211	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8708441	Ccdc33	coiled-coil domain containing 33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708441	Ccdc33	coiled-coil domain containing 33	gene	DOID:9256	colorectal cancer		ISO	RGD:1602211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8708520	Slain1	SLAIN family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8708520	Slain1	SLAIN family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8708520	Slain1	SLAIN family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1603921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8708520	Slain1	SLAIN family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1603921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8708520	Slain1	SLAIN family member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8708520	Slain1	SLAIN family member 1	gene	DOID:3275	thymoma		ISO	RGD:1603921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8708520	Slain1	SLAIN family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8708520	Slain1	SLAIN family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708520	Slain1	SLAIN family member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8708539	Tex13b	testis expressed 13B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8708546	Catsperg	cation channel sperm associated auxiliary subunit gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8708546	Catsperg	cation channel sperm associated auxiliary subunit gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1322128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8708546	Catsperg	cation channel sperm associated auxiliary subunit gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8708546	Catsperg	cation channel sperm associated auxiliary subunit gamma	gene	DOID:3275	thymoma		ISO	RGD:1322128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8708546	Catsperg	cation channel sperm associated auxiliary subunit gamma	gene	DOID:4362	cervical cancer		ISO	RGD:1322128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8708546	Catsperg	cation channel sperm associated auxiliary subunit gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708546	Catsperg	cation channel sperm associated auxiliary subunit gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8708546	Catsperg	cation channel sperm associated auxiliary subunit gamma	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8708577	Triqk	triple QxxK/R motif containing	gene	DOID:1115	sarcoma		ISO	RGD:2299991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8708577	Triqk	triple QxxK/R motif containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2299991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708577	Triqk	triple QxxK/R motif containing	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2299991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8708577	Triqk	triple QxxK/R motif containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2299991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8708601	Jade2	jade family PHD finger 2	gene	DOID:12849	autistic disorder		ISO	RGD:1319333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
8708601	Jade2	jade family PHD finger 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319333	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
8708601	Jade2	jade family PHD finger 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8708601	Jade2	jade family PHD finger 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1319333	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
8708639	Tubb1	tubulin beta 1 class VI	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1345439	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	PMID:25741868|PMID:28492532|PMID:28983057|PMID:30446499|PMID:32757236|PMID:34516618|PMID:34662886|PMID:36107810|PMID:37647632
8708639	Tubb1	tubulin beta 1 class VI	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8708639	Tubb1	tubulin beta 1 class VI	gene	DOID:0060651	MYH-9 related disease		ISO	RGD:1345439	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	PMID:25741868
8708639	Tubb1	tubulin beta 1 class VI	gene	DOID:0090102	autosomal dominant isolated macrothrombocytopenia 1		ISO	RGD:1345439	D	RGD:7240710	20180130	OMIM			
8708639	Tubb1	tubulin beta 1 class VI	gene	DOID:0090102	autosomal dominant isolated macrothrombocytopenia 1		ISO	RGD:1345439	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal dominant macrothrombocytopenia TUBB1-related | ClinVar Annotator: match by term: MACROTHROMBOCYTOPENIA, ISOLATED, 1, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 1, autosomal dominant | ClinVar Annotator: match by term: TUBB1-related condition | ClinVar Annotator: match by term: macrothrombocytopenia, isolated, 1, autosomal dominant	PMID:18849486|PMID:24344610|PMID:25741868|PMID:27479822|PMID:27905099|PMID:28492532|PMID:28983057|PMID:30446499|PMID:30854628|PMID:31064749|PMID:31565851|PMID:31642429|PMID:32757236|PMID:32892537|PMID:33327716|PMID:33400601|PMID:34355501|PMID:34516618|PMID:34662886|PMID:36218086|PMID:37792884|PMID:38735735|PMID:40071799|PMID:4516618
8708639	Tubb1	tubulin beta 1 class VI	gene	DOID:10534	stomach cancer		ISO	RGD:1345439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8708639	Tubb1	tubulin beta 1 class VI	gene	DOID:12531	von Willebrand's disease		ISO	RGD:1345439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: von Willebrand disease	PMID:25741868
8708639	Tubb1	tubulin beta 1 class VI	gene	DOID:1588	thrombocytopenia		ISO	RGD:1345439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia | ClinVar Annotator: match by term: thrombocytopenia	PMID:24777453|PMID:25741868|PMID:27346686|PMID:28054583|PMID:28492532|PMID:31064749|PMID:31249973|PMID:32757236|PMID:34355501|PMID:34516618
8708639	Tubb1	tubulin beta 1 class VI	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1345439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:32935436
8708639	Tubb1	tubulin beta 1 class VI	gene	DOID:3275	thymoma		ISO	RGD:1345439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8708639	Tubb1	tubulin beta 1 class VI	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708639	Tubb1	tubulin beta 1 class VI	gene	DOID:630	genetic disease		ISO	RGD:1345439	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8708639	Tubb1	tubulin beta 1 class VI	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1345439	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
8708639	Tubb1	tubulin beta 1 class VI	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8708647	Gda	guanine deaminase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8708647	Gda	guanine deaminase	gene	DOID:10534	stomach cancer		ISO	RGD:734048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8708647	Gda	guanine deaminase	gene	DOID:1115	sarcoma		ISO	RGD:734048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8708647	Gda	guanine deaminase	gene	DOID:1324	lung cancer		ISO	RGD:734048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8708647	Gda	guanine deaminase	gene	DOID:1909	melanoma		ISO	RGD:734048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8708647	Gda	guanine deaminase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8708647	Gda	guanine deaminase	gene	DOID:305	carcinoma		ISO	RGD:734048	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8708647	Gda	guanine deaminase	gene	DOID:3070	high grade glioma		ISO	RGD:734048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8708647	Gda	guanine deaminase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:734048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8708647	Gda	guanine deaminase	gene	DOID:4362	cervical cancer		ISO	RGD:734048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8708647	Gda	guanine deaminase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:734048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8708647	Gda	guanine deaminase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734048	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8708647	Gda	guanine deaminase	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:734048	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8708647	Gda	guanine deaminase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:734048	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8708647	Gda	guanine deaminase	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:734048	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8708647	Gda	guanine deaminase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:734048	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8708675	Ttc6	tetratricopeptide repeat domain 6	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1323287	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1604541	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Fetal akinesia sequence	PMID:25741868|PMID:28492532|PMID:31680123
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111493	combined oxidative phosphorylation deficiency 12		ISO	RGD:1604541	D	RGD:7240710	20180130	OMIM			
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111493	combined oxidative phosphorylation deficiency 12		ISO	RGD:1604541	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 12 | ClinVar Annotator: match by term: EARS2-related condition | ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	PMID:22492562|PMID:24706556|PMID:25476837|PMID:25741868|PMID:26741492|PMID:26780086|PMID:27117034|PMID:27290639|PMID:28492532|PMID:28748214|PMID:30831263|PMID:31520968|PMID:31665838|PMID:31980526|PMID:32887222|PMID:33128823|PMID:33258288|PMID:33962821|PMID:33972171|PMID:34018027|PMID:34440436|PMID:37377599|PMID:37597066|PMID:38129218|PMID:38465286|PMID:39173847
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:10907	microcephaly		ISO	RGD:1604541	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:1115	sarcoma		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:11830	myopia		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:1596	depressive disorder		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:2468	psychotic disorder		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1604541	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868|PMID:28492532|PMID:28748214|PMID:28748215|PMID:31680123
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmia	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9001733	Tinnitus		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9003126	Hallucinations		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9003539	Hyperacusis		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005077	Joint Instability		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
8708707	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008023	Memory Disorders		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
8708735	Cep63	centrosomal protein 63	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8708735	Cep63	centrosomal protein 63	gene	DOID:0050569	Seckel syndrome		ISO	RGD:1617588	D	RGD:9068941	20220825	MouseDO			
8708735	Cep63	centrosomal protein 63	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8708735	Cep63	centrosomal protein 63	gene	DOID:0070006	Seckel syndrome 6		ISO	RGD:1602096	D	RGD:7240710	20180130	OMIM			
8708735	Cep63	centrosomal protein 63	gene	DOID:0070006	Seckel syndrome 6		ISO	RGD:1602096	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: CEP63-related condition | ClinVar Annotator: match by term: Seckel syndrome 6	PMID:16199547|PMID:21983783|PMID:23936128|PMID:25741868|PMID:26158450|PMID:28492532
8708735	Cep63	centrosomal protein 63	gene	DOID:10907	microcephaly		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
8708735	Cep63	centrosomal protein 63	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8708735	Cep63	centrosomal protein 63	gene	DOID:2340	craniosynostosis		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trigonocephaly	
8708735	Cep63	centrosomal protein 63	gene	DOID:4362	cervical cancer		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8708735	Cep63	centrosomal protein 63	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8708735	Cep63	centrosomal protein 63	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8708735	Cep63	centrosomal protein 63	gene	DOID:5041	esophageal cancer		ISO	RGD:1602096	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8708735	Cep63	centrosomal protein 63	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708735	Cep63	centrosomal protein 63	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8708735	Cep63	centrosomal protein 63	gene	DOID:630	genetic disease		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8708735	Cep63	centrosomal protein 63	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532
8708735	Cep63	centrosomal protein 63	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:21983783|PMID:23936128|PMID:26158450|PMID:28492532
8708735	Cep63	centrosomal protein 63	gene	DOID:9005616	Micrognathism		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	
8708735	Cep63	centrosomal protein 63	gene	DOID:9008675	Dyskinesias		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskinesia	
8708735	Cep63	centrosomal protein 63	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8708772	Amotl1	angiomotin like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8708772	Amotl1	angiomotin like 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1313196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
8708772	Amotl1	angiomotin like 1	gene	DOID:3070	high grade glioma		ISO	RGD:1313196	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:34480788
8708772	Amotl1	angiomotin like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313196	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8708772	Amotl1	angiomotin like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313196	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8708772	Amotl1	angiomotin like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708772	Amotl1	angiomotin like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8708772	Amotl1	angiomotin like 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1313196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	
8708772	Amotl1	angiomotin like 1	gene	DOID:674	cleft palate		ISO	RGD:1313196	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868|PMID:30375152|PMID:36751037
8708772	Amotl1	angiomotin like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8708772	Amotl1	angiomotin like 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1313196	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:34480788
8708772	Amotl1	angiomotin like 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1313196	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: hypertelorism	PMID:25741868|PMID:28492532|PMID:33026150|PMID:36751037
8708772	Amotl1	angiomotin like 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1313196	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:34480788
8708772	Amotl1	angiomotin like 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313196	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:30375152|PMID:36751037
8708772	Amotl1	angiomotin like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8708772	Amotl1	angiomotin like 1	gene	DOID:9009355	Craniofaciocardiohepatic syndrome		ISO	RGD:1313196	D	RGD:7240710	20250730	OMIM			
8708772	Amotl1	angiomotin like 1	gene	DOID:9009355	Craniofaciocardiohepatic syndrome		ISO	RGD:1313196	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CRANIOFACIOCARDIOHEPATIC SYNDROME | ClinVar Annotator: match by term: Craniofaciocardiohepatic syndrome	PMID:25741868|PMID:28492532|PMID:30375152|PMID:36116699|PMID:36751037
8708772	Amotl1	angiomotin like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8708824	Itm2c	integral membrane protein 2C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8708824	Itm2c	integral membrane protein 2C	gene	DOID:10534	stomach cancer		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8708824	Itm2c	integral membrane protein 2C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8708824	Itm2c	integral membrane protein 2C	gene	DOID:1115	sarcoma		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8708824	Itm2c	integral membrane protein 2C	gene	DOID:1324	lung cancer		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8708824	Itm2c	integral membrane protein 2C	gene	DOID:1909	melanoma		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8708824	Itm2c	integral membrane protein 2C	gene	DOID:4362	cervical cancer		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8708824	Itm2c	integral membrane protein 2C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708824	Itm2c	integral membrane protein 2C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8708824	Itm2c	integral membrane protein 2C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8708824	Itm2c	integral membrane protein 2C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8708824	Itm2c	integral membrane protein 2C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8708842	Pecr	peroxisomal trans-2-enoyl-CoA reductase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8708842	Pecr	peroxisomal trans-2-enoyl-CoA reductase	gene	DOID:1059	intellectual disability		ISO	RGD:1603637	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
8708842	Pecr	peroxisomal trans-2-enoyl-CoA reductase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8708842	Pecr	peroxisomal trans-2-enoyl-CoA reductase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8708842	Pecr	peroxisomal trans-2-enoyl-CoA reductase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1603637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8708842	Pecr	peroxisomal trans-2-enoyl-CoA reductase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8708859	Emid1	EMI domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8708859	Emid1	EMI domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1349411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8708859	Emid1	EMI domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1349411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8708859	Emid1	EMI domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1349411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8708859	Emid1	EMI domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1349411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8708859	Emid1	EMI domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8708859	Emid1	EMI domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349411	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8708859	Emid1	EMI domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708859	Emid1	EMI domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8708859	Emid1	EMI domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8708859	Emid1	EMI domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8708859	Emid1	EMI domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8708859	Emid1	EMI domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8708903	Ndst4	N-deacetylase and N-sulfotransferase 4	gene	DOID:1909	melanoma		ISO	RGD:1315201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8708903	Ndst4	N-deacetylase and N-sulfotransferase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708903	Ndst4	N-deacetylase and N-sulfotransferase 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315201	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
8708921	Polq	DNA polymerase theta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8708921	Polq	DNA polymerase theta	gene	DOID:0080600	COVID-19		ISO	RGD:1320324	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8708921	Polq	DNA polymerase theta	gene	DOID:10534	stomach cancer		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8708921	Polq	DNA polymerase theta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8708921	Polq	DNA polymerase theta	gene	DOID:1115	sarcoma		ISO	RGD:1320324	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8708921	Polq	DNA polymerase theta	gene	DOID:1324	lung cancer		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8708921	Polq	DNA polymerase theta	gene	DOID:1612	breast cancer		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:25741868
8708921	Polq	DNA polymerase theta	gene	DOID:1909	melanoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8708921	Polq	DNA polymerase theta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8708921	Polq	DNA polymerase theta	gene	DOID:3275	thymoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8708921	Polq	DNA polymerase theta	gene	DOID:3307	teratoma		ISO	RGD:1320324	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
8708921	Polq	DNA polymerase theta	gene	DOID:4362	cervical cancer		ISO	RGD:1320324	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8708921	Polq	DNA polymerase theta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8708921	Polq	DNA polymerase theta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8708921	Polq	DNA polymerase theta	gene	DOID:5041	esophageal cancer		ISO	RGD:1320324	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8708921	Polq	DNA polymerase theta	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8708921	Polq	DNA polymerase theta	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1320324	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
8708921	Polq	DNA polymerase theta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8708921	Polq	DNA polymerase theta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320324	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8708921	Polq	DNA polymerase theta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8708921	Polq	DNA polymerase theta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8708921	Polq	DNA polymerase theta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8708921	Polq	DNA polymerase theta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0040084	Streptococcus pneumonia	exacerbates	ISO	RGD:10199	D	RGD:9068941	20210409	RGD			PMID:27421701|REF_RGD_ID:126779562
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0050453	lissencephaly		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pachygyria	PMID:12697903|PMID:12810666|PMID:12882767|PMID:14695997|PMID:16631465|PMID:17023046|PMID:17393301|PMID:17623063|PMID:17640065|PMID:19781682|PMID:20305132|PMID:21787400|PMID:21933854|PMID:22369572|PMID:22529920|PMID:23091097|PMID:23555315|PMID:24142997|PMID:24416720|PMID:24728327|PMID:25085752|PMID:25148578|PMID:25257301|PMID:25523272|PMID:25587027|PMID:25741868|PMID:25980754|PMID:26009992|PMID:26123645|PMID:26207792|PMID:26467025|PMID:26898890|PMID:27146902|PMID:28492532|PMID:30093976
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0050671	female breast cancer	susceptibility	ISO	RGD:1606040	D	RGD:9068941	20220609	RGD		DNA:missense mutation:cds: (human)	PMID:30303537|REF_RGD_ID:152995259
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0050746	mantle cell lymphoma		ISO	RGD:1606040	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MANTLE CELL LYMPHOMA, SOMATIC	PMID:23807571|PMID:25614872|PMID:28492532
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0050749	peripheral T-cell lymphoma		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413734
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar Annotator: match by term: Dysmetria	PMID:11889466|PMID:12810666|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28488180|PMID:28492532|PMID:31050087|PMID:31611883|PMID:33547824|PMID:34628594|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0050835	generalized dystonia		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized dystonia	PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30262796|PMID:8659541|PMID:9150358
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		protein:increased expression:mucosa of oral region (human)	PMID:18288488|PMID:29928356|REF_RGD_ID:150340604|REF_RGD_ID:150340709
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0051064	left ventricular failure		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24358288
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0060058	lymphoma		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		DNA:deletion:exon:	PMID:28007901|REF_RGD_ID:12879399
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0060058	lymphoma		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:	PMID:27895165|REF_RGD_ID:12879393
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		protein:decreased expression:hepatocyte	PMID:11751435|REF_RGD_ID:1599367
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0060249	scoliosis		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:11889466|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:25741868|PMID:28492532|PMID:31611883|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1606040	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1	PMID:25741868
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0080158	herpes simplex virus keratitis	ameliorates	ISO	RGD:10199	D	RGD:9068941	20210416	RGD			PMID:24370835|REF_RGD_ID:126781690
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0080410	familial adenomatous polyposis 2		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial adenomatous polyposis 2	PMID:10425038|PMID:11298136|PMID:11443540|PMID:12815592|PMID:19404735|PMID:21933854|PMID:23322442|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28779002|PMID:29478780|PMID:31050087|PMID:33280026|PMID:33471991|PMID:34204722|PMID:34262154|PMID:34308104|PMID:34686943|PMID:36315919|PMID:8845835
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:1606040	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27-altered	PMID:25741868|PMID:28492532|PMID:28652578|PMID:30279689|PMID:30287823|PMID:31214711|PMID:33436325|PMID:33471991|PMID:34262154|PMID:34326862|PMID:36243179
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0080855	Parkinsonism		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30262796|PMID:8659541|PMID:9150358
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0081042	T-cell prolymphocytic leukemia		ISO	RGD:1606040	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC	PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532
8708960	Atm	ATM serine/threonine kinase	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:9833910	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy	PMID:21665257|PMID:24448499|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27067391|PMID:27854218|PMID:28051113|PMID:28135145|PMID:28492532|PMID:28843361|PMID:29752822|PMID:32365829|PMID:32986223|PMID:33128190|PMID:33280026|PMID:33436325|PMID:33471991|PMID:33606809|PMID:34326862|PMID:35264596|PMID:35534704|PMID:35957908|PMID:37436117
8708960	Atm	ATM serine/threonine kinase	gene	DOID:10155	intestinal cancer		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intestinal cancer	PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934
8708960	Atm	ATM serine/threonine kinase	gene	DOID:10283	prostate cancer		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer | ClinVar Annotator: match by term: cancer prostate	PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23807571|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934
8708960	Atm	ATM serine/threonine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:10425038|PMID:12552559|PMID:17910737|PMID:18431795|PMID:19691550|PMID:21665257|PMID:22213089|PMID:22527104|PMID:23454770|PMID:23807571|PMID:24405665|PMID:24935205|PMID:25122203|PMID:25614872|PMID:25741868|PMID:26439923|PMID:26467025|PMID:26846839|PMID:27779110|PMID:27989354|PMID:28492532|PMID:28779002|PMID:29368341|PMID:29478780|PMID:29522266|PMID:29641532|PMID:32091409|PMID:32885271|PMID:32962506|PMID:33471991|PMID:36988593
8708960	Atm	ATM serine/threonine kinase	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1606040	D	RGD:9068941	20210827	RGD		protein:decreased expression:mucosa of stomach (human)	PMID:23649938|REF_RGD_ID:150340700
8708960	Atm	ATM serine/threonine kinase	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		protein:decreased phosphorylation:stomach (human)	PMID:17928013|REF_RGD_ID:150340715
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1059	intellectual disability		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:11889466|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:14695534|PMID:14695997|PMID:16631465|PMID:17023046|PMID:17393301|PMID:17623063|PMID:17640065|PMID:19773425|PMID:19781682|PMID:20305132|PMID:21787400|PMID:21933854|PMID:22213089|PMID:22369572|PMID:22529920|PMID:23091097|PMID:23555315|PMID:24142997|PMID:24416720|PMID:24728327|PMID:25085752|PMID:25148578|PMID:25257301|PMID:25523272|PMID:25587027|PMID:25741868|PMID:25980754|PMID:26009992|PMID:26123645|PMID:26207792|PMID:26467025|PMID:26898890|PMID:27146902|PMID:28492532|PMID:30093976|PMID:31611883|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:10652	Alzheimer's disease	disease_progression	ISO	RGD:1606040	D	RGD:9068941	20200609	RGD			PMID:23861893|REF_RGD_ID:10047419
8708960	Atm	ATM serine/threonine kinase	gene	DOID:10907	microcephaly		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:12697903|PMID:12810666|PMID:12882767|PMID:14695997|PMID:16631465|PMID:17023046|PMID:17393301|PMID:17623063|PMID:17640065|PMID:19781682|PMID:20305132|PMID:21787400|PMID:21933854|PMID:22369572|PMID:22529920|PMID:23091097|PMID:23555315|PMID:24142997|PMID:24416720|PMID:24728327|PMID:25085752|PMID:25148578|PMID:25257301|PMID:25523272|PMID:25587027|PMID:25741868|PMID:25980754|PMID:26009992|PMID:26123645|PMID:26207792|PMID:26467025|PMID:26898890|PMID:27146902|PMID:28492532|PMID:30093976|PMID:30287823|PMID:31871109|PMID:32068069|PMID:33471991|PMID:36243179
8708960	Atm	ATM serine/threonine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:10864201|PMID:10980530|PMID:12400598|PMID:12815592|PMID:14695534|PMID:15039971|PMID:15843990|PMID:16199547|PMID:16941484|PMID:17124347|PMID:17910737|PMID:18560558|PMID:19431188|PMID:19691550|PMID:20308662|PMID:20966255|PMID:21150274|PMID:21665257|PMID:22649200|PMID:23322442|PMID:23454770|PMID:23807571|PMID:24549055|PMID:24763289|PMID:25077176|PMID:25374739|PMID:25614872|PMID:25741868|PMID:26628246|PMID:26757417|PMID:26896183|PMID:27153395|PMID:28492532|PMID:28724667|PMID:28779002|PMID:29360161|PMID:29371908|PMID:29506128|PMID:29922827|PMID:30287823|PMID:30303537|PMID:30549301|PMID:30772474|PMID:30982232|PMID:31050087|PMID:31350202|PMID:32068069|PMID:32566746|PMID:32676327|PMID:33048355|PMID:33471991|PMID:36988593|PMID:8755918|PMID:9043869|PMID:9450874|PMID:9463314|PMID:9497252|PMID:9733514
8708960	Atm	ATM serine/threonine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30607632
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1115	sarcoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:26467025|PMID:28054583|PMID:28492532|PMID:33280026
8708960	Atm	ATM serine/threonine kinase	gene	DOID:11476	osteoporosis		ISO	RGD:10199	D	RGD:9068941	20200609	RGD			PMID:16644862|REF_RGD_ID:10047420
8708960	Atm	ATM serine/threonine kinase	gene	DOID:11830	myopia		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:19781682|PMID:20305132|PMID:25741868|PMID:26898890|PMID:28492532|PMID:33436325|PMID:33471991|PMID:34008015
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1240	leukemia		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		DNA:deletion:exon:	PMID:28007901|REF_RGD_ID:12879399
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:28423360|PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34270679|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35201558|PMID:35260754|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35145552|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35145552|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35145552|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36167400|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33239428|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35710434|PMID:35716007|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36551643|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33239428|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35710434|PMID:35716007|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36551643|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37149759|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34680501|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36000185|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37438524|PMID:37445923|PMID:37453313|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25741914|PMID:25741916|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29485843|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35599270|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:37712079|PMID:38003901|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35599270|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37091313|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:37712079|PMID:38003901|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25677497|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35599270|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37091313|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:37712079|PMID:38003901|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880|PMID:35245693
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35599270|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:37529773|PMID:37712079|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38355628|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35599270|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36685941|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37306523|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:37529773|PMID:37712079|PMID:37762649|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38355628|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113886|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:33383211|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34489640|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35599270|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36685941|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37581139|PMID:37628581|PMID:37712079|PMID:37762649|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38355628|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17632790|PMID:17640065|PMID:17699107|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17923702|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24584352|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25249249|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26388441|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677030|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27659017|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27714650
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28775315|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30104763|PMID:30113886|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30550363|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30630526|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30709382|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32256484|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32508039|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32720237|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33003326|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:33383211|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33429865|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33525650|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33608381|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33916788|PMID:33919281|PMID:33939675|PMID:33940787|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34401606|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34489640|PMID:34539671|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:34653365|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34791078|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34887416|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145272|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35218119|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260348|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35304488|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35586824|PMID:35599270|PMID:35626031|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35777164|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36003761|PMID:36008414|PMID:36018153|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36179682|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:36346689|PMID:3638722|PMID:36387226|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36717774|PMID:36744932|PMID:36781323|PMID:36790564|PMID:36845387|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36979741|PMID:36980780|PMID:36983044|PMID:36988593|PMID:37009283|PMID:37013556|PMID:37075885|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37232349|PMID:37239058|PMID:37262986|PMID:37306523|PMID:37323311|PMID:37331604|PMID:37345735|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37536918|PMID:37581139|PMID:37591896|PMID:37628581|PMID:37656691|PMID:37712079|PMID:37762649|PMID:37833309|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38355628|PMID:38489015|PMID:38509102|PMID:38520597|PMID:38854973|PMID:38874686|PMID:39077936|PMID:39085400|PMID:39256447|PMID:39825153|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24584352|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25249249|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26388441|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677030|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27659017|PMID:27664052|PMID:27671921|PMID:27692705
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:27714650|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28775315|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30104763|PMID:30113886|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30550363|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30630526|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30709382|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32256484|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32366930|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32508039|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32720237|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33003326|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:33383211|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33429865|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33525650|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33608381|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33758026|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33840814|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33916788|PMID:33919281|PMID:33939675|PMID:33940787|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34401606|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34489640|PMID:34539671|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653365|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34791078|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34887416|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35076389|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145272|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35218119|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260348|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35304488|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35586824|PMID:35599270|PMID:35626031|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35777164|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:35982159|PMID:36000185|PMID:36003761|PMID:36008414|PMID:36018153|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36135357|PMID:36155879|PMID:36161273|PMID:36167400|PMID:36179682|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:36346689|PMID:3638722|PMID:36387226|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36717774|PMID:36744932|PMID:36781323|PMID:36790564|PMID:36845387|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36979741|PMID:36980780|PMID:36983044|PMID:36988593|PMID:37009283|PMID:37013556|PMID:37075885|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37201465|PMID:37232349|PMID:37239058|PMID:37262986|PMID:37306523|PMID:37323311|PMID:37331604|PMID:37345735|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37536918|PMID:37581139|PMID:37591896|PMID:37628581|PMID:37656691|PMID:37712079|PMID:37762649|PMID:37833309|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38355628|PMID:38489015|PMID:38496821|PMID:38509102|PMID:38520597|PMID:38570878|PMID:38697030|PMID:38854973|PMID:38874686|PMID:39077936|PMID:39085400|PMID:39138584|PMID:39226054|PMID:39256447|PMID:39825153|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12610666|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17632790|PMID:17640065|PMID:17670065|PMID:17699107|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17923702|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20054297|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21732128|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120057|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24584352|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24726177|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25249249|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26388441|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677030|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:27621404|PMID:27659017|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28590052|PMID:28591191|PMID:28608266|PMID:28625278|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28775315|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30104763|PMID:30113886|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30550363|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30630526|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30709382|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159474|PMID:31159747
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31626222|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32256484|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32366930|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32508039|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32720237|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33003326|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:33383211|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33429865|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33525650|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33608381|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33758026|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33840814|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33916788|PMID:33919281|PMID:33939675|PMID:33940787|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34387910|PMID:34399810|PMID:34401606|PMID:34426522|PMID:34433815|PMID:34445196
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:34453918|PMID:34477817|PMID:34477998|PMID:34489640|PMID:34539671|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653365|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34791078|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34887416|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35076389|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145272|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35171529|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35218119|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260348|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35304488|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35586824|PMID:35599270|PMID:35626031|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35777164|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:35982159|PMID:36000185|PMID:36003761|PMID:36008414|PMID:36018153|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36135357|PMID:36155879|PMID:36161273|PMID:36167400|PMID:36179682|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:36346689|PMID:3638722|PMID:36387226|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36717774|PMID:36744932|PMID:36781323|PMID:36790564|PMID:36845387|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36979741|PMID:36980780|PMID:36983044|PMID:36988593|PMID:37009283|PMID:37013556|PMID:37075885|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37201465|PMID:37232349|PMID:37239058|PMID:37262986|PMID:37306523|PMID:37323311|PMID:37331604|PMID:37345735|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37536918|PMID:37581139|PMID:37591896|PMID:37628581|PMID:37656691|PMID:37712079|PMID:37762649|PMID:37833309|PMID:37930190|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38313678|PMID:38355628|PMID:38489015|PMID:38496821|PMID:38509102|PMID:38520597|PMID:38570878|PMID:38697030|PMID:38854973|PMID:38874686|PMID:39077936|PMID:39085400|PMID:39138584|PMID:39226054|PMID:39256447|PMID:39272813|PMID:39636577|PMID:39825153|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12610666|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17632790|PMID:17640065|PMID:17670065|PMID:17699107|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17923702|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20054297|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21732128|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24584352|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25249249|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26388441|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677030|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27659017|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27714650
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28625278|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28775315|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30104763|PMID:30113886|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30550363|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30630526|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30709382|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30885352|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31131953|PMID:31139954|PMID:31159474|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31626222|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31745173|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32256484|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32366930|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32508039|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32720237|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:32802943|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33003326|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33083949|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33296026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:33383211|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33429865|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33525650|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33608381|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33758026|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33840814|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33916788|PMID:33919281|PMID:33939675|PMID:33940787|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34282249|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34401606|PMID:34404412|PMID:34426522
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34489640|PMID:34539671|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653365|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34754157|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34791078|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34887416|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35076389|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145272|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35171529|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35218119|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260348|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35304488|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35358259|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35586824|PMID:35599270|PMID:35626031|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35729272|PMID:35734982|PMID:35763645|PMID:35777164|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:35982159|PMID:36000185|PMID:36003761|PMID:36008414|PMID:36018153|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36135357|PMID:36155879|PMID:36161273|PMID:36167400|PMID:36179682|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:36346689|PMID:3638722|PMID:36387226|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36563937|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36717774|PMID:36744932|PMID:36781323|PMID:36790564|PMID:36845387|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36979741|PMID:36980780|PMID:36983044|PMID:36988593|PMID:37009283|PMID:37013556|PMID:37075885|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37201465|PMID:37232349|PMID:37239058|PMID:37262986|PMID:37306523|PMID:37323311|PMID:37331604|PMID:37345735|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37536918|PMID:37540892|PMID:37581139|PMID:37591896|PMID:37628581|PMID:37656691|PMID:37712079|PMID:37762649|PMID:37833309|PMID:37930190|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38049230|PMID:38118367|PMID:38136308|PMID:38147532|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38313678|PMID:38327652|PMID:38354330|PMID:38355628|PMID:38404774|PMID:38415270|PMID:38439815|PMID:38489015|PMID:38496821|PMID:38509102|PMID:38520597|PMID:38522067|PMID:38570878|PMID:38673061|PMID:38697030|PMID:38734904|PMID:38843839|PMID:38854136|PMID:38854973|PMID:38874686|PMID:38896321|PMID:38917355|PMID:39021548|PMID:39077936|PMID:39085400|PMID:39122510|PMID:39138584|PMID:39226054|PMID:39256447|PMID:39272813|PMID:39636577|PMID:39825153|PMID:40105422|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11821961|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12362033|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12552559|PMID:12552566|PMID:12610666|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14634505|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15196260|PMID:15217508|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17632790|PMID:17640065|PMID:17670065|PMID:17699107|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:1953577|PMID:19535770|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19781682|PMID:19823873|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:21665257|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22763152|PMID:22869595|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585524|PMID:23612382|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23960188|PMID:24033266|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome	PMID:24568663|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24886963|PMID:2491181|PMID:24935205|PMID:24951259|PMID:24954719|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25122203|PMID:25148578|PMID:25159481|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26207792|PMID:26214590|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26388441|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27276934|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27980538|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28008555|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28182994|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28775315|PMID:28779002|PMID:28825054|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29053726|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29271107|PMID:29308099|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29684080|PMID:29731985|PMID:29753700|PMID:29754934|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29895855|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967250
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome	PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30104763|PMID:30124550|PMID:30128536|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30389154|PMID:30402232|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30550363|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30630526|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30883245|PMID:30888062|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31159474|PMID:31159747|PMID:31169336|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31341520|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31626222|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32005694|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32256484|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32488064|PMID:32508039|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32581083|PMID:32606146|PMID:32624572|PMID:32658311|PMID:32659497|PMID:32694154|PMID:32710489|PMID:32720237|PMID:32748564|PMID:32756499|PMID:32761968|PMID:32775531|PMID:32802943|PMID:3280694|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33003326|PMID:33047316|PMID:33050356|PMID:33083949|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33359728|PMID:33365035|PMID:33376610|PMID:33383211|PMID:33395407|PMID:33415580|PMID:33421217|PMID:33429865|PMID:33436325|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33525650|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33624863|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33758026|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33840814|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33940787|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34107524|PMID:34196900|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome	PMID:34377931|PMID:34399810|PMID:34401606|PMID:34404412|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34489640|PMID:34539671|PMID:34573280|PMID:34582042|PMID:34628594|PMID:34646395|PMID:34653365|PMID:34654685|PMID:34659905|PMID:34754157|PMID:34791078|PMID:34820595|PMID:34824606|PMID:34884835|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145272|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35171529|PMID:35186721|PMID:35218119|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260348|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35304488|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35586824|PMID:35599270|PMID:35626031|PMID:35652560|PMID:35666082|PMID:35716007|PMID:35717579|PMID:35729272|PMID:35777164|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35957908|PMID:35980532|PMID:35982159|PMID:36000185|PMID:36003761|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36099812|PMID:36117189|PMID:36132150|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36179682|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:36346689|PMID:3638722|PMID:36387226|PMID:36446039|PMID:36551643|PMID:36555667|PMID:36563937|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36685941|PMID:36704080|PMID:36717774|PMID:36744932|PMID:36790564|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36979741|PMID:36980780|PMID:36988593|PMID:37013556|PMID:37075885|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37232349|PMID:37239058|PMID:37306523|PMID:37323311|PMID:37345735|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37536918|PMID:37591896|PMID:37712079|PMID:37762649|PMID:37833309|PMID:38003901|PMID:38136308|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38355628|PMID:38415270|PMID:38439815|PMID:38489015|PMID:38520597|PMID:38697030|PMID:38854136|PMID:38874686|PMID:39021548|PMID:39077936|PMID:39138584|PMID:39226054|PMID:39256447|PMID:39272813|PMID:39825153|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8968760|PMID:9043869|PMID:9121450|PMID:9150358|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: ATAXIA-TELANGIECTASIA | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10677309|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11298136|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11526498|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11849780|PMID:11889466|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12362033|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12552559|PMID:12552566|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:1300551|PMID:133608|PMID:14634505|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15196260|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15503472|PMID:15643608|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16112413|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:17000706|PMID:17001642|PMID:17124347|PMID:17203191|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17632790|PMID:17640065|PMID:17670065|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18164969|PMID:18174244|PMID:18321536|PMID:18384426|PMID:18431795|PMID:18497957|PMID:18502988|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:1953577|PMID:19535770|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19773425|PMID:19781682|PMID:19823873|PMID:20051774|PMID:20077034|PMID:20153123|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20981092|PMID:21164480|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21593342|PMID:21665257|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22763152|PMID:22869595|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23055520|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585524|PMID:23612382|PMID:23640770|PMID:23652012|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23960188|PMID:24033266|PMID:24090759|PMID:24142997|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24568663|PMID:24695838|PMID:24705252|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:2491181|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25115387|PMID:25122203|PMID:25159481|PMID:25186627|PMID:25303977|PMID:25318351|PMID:25326635|PMID:25428789|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25589618|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25892863|PMID:25914063|PMID:25980754|PMID:26010451|PMID:26023681|PMID:26094658|PMID:26098866|PMID:26123645|PMID:26181193|PMID:26182300|PMID:26247737|PMID:26270727|PMID:26296701|PMID:26320869|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26658419|PMID:26667234|PMID:26681312|PMID:26689913
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: ATAXIA-TELANGIECTASIA | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:26718692|PMID:26771497|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26911350|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27276934|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27871447|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27989354|PMID:27993330|PMID:28008555|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28182994|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28423363|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28888541|PMID:28894253|PMID:28912153|PMID:28916186|PMID:28966033|PMID:28975465|PMID:29053726|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29308099|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29684080|PMID:29753700|PMID:29758562|PMID:29763623|PMID:29769598|PMID:29895855|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29926184|PMID:29945567|PMID:29961768|PMID:29978950|PMID:30062048|PMID:30067863|PMID:30093976|PMID:30104763|PMID:30128536|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30256826|PMID:30262796|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30482293|PMID:30549301|PMID:30563988|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30630526|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30716324|PMID:30772474|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30883245|PMID:30888062|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31069529|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31300551|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31626222|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31788995|PMID:31794323|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31948886|PMID:31970404|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32321774|PMID:32325837|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32462469|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32581083|PMID:32624572|PMID:32658311|PMID:32694154|PMID:32726432|PMID:32748564|PMID:32756499|PMID:32761968|PMID:32775531|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32866655|PMID:32868316
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: ATAXIA-TELANGIECTASIA | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32957588|PMID:32959997|PMID:32962506|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33003326|PMID:33012025|PMID:33047316|PMID:33083949|PMID:33084218|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33359728|PMID:33376610|PMID:33395407|PMID:33429865|PMID:33436325|PMID:33462019|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33624863|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33758026|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33940787|PMID:34008015|PMID:34009545|PMID:34107524|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34371384|PMID:34401606|PMID:34404412|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477998|PMID:34539671|PMID:34573280|PMID:34582042|PMID:34646395|PMID:34659905|PMID:34686943|PMID:34754157|PMID:34791078|PMID:34824606|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35076389|PMID:35078243|PMID:35101336|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35155181|PMID:35171259|PMID:35171529|PMID:35218119|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35365198|PMID:35402282|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35586824|PMID:35626031|PMID:35652560|PMID:35716007|PMID:35717579|PMID:35719373|PMID:35729272|PMID:35734982|PMID:3574400|PMID:35884425|PMID:35886069|PMID:35980532|PMID:36000185|PMID:36003761|PMID:36029002|PMID:36035419|PMID:36099812|PMID:36117189|PMID:36132150|PMID:36135357|PMID:36139606|PMID:36179682|PMID:36243179|PMID:36290365|PMID:36315513|PMID:36315919|PMID:36329109|PMID:36346689|PMID:36387226|PMID:36446039|PMID:36547062|PMID:36627197|PMID:36674612|PMID:36704080|PMID:36744932|PMID:36765721|PMID:36790564|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36988593|PMID:37075885|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37232349|PMID:37323311|PMID:37345735|PMID:37436117|PMID:37438524|PMID:37450374|PMID:37802069|PMID:37833309|PMID:38002934|PMID:38003901|PMID:38091153|PMID:38136308|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38355628|PMID:38439815|PMID:38489015|PMID:38520597|PMID:38854136|PMID:38874686|PMID:38917355|PMID:39021548|PMID:39052144|PMID:39077936|PMID:39272813|PMID:39427061|PMID:39521281|PMID:39590369|PMID:39825153|PMID:40115062|PMID:40161544|PMID:40403485|PMID:40446793|PMID:40565533|PMID:40580951|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8968760|PMID:9043869|PMID:9121450|PMID:9150358|PMID:9259193|PMID:9288106|PMID:9443866|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11298136|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11526498|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12552559|PMID:12552566|PMID:12610666|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:133608|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15196260|PMID:15280931|PMID:15390180|PMID:15503472|PMID:15643608|PMID:15713674|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16941484|PMID:16998505|PMID:17000706|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17632790|PMID:17640065|PMID:17670065|PMID:17726045|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18164969|PMID:18174244|PMID:18321536|PMID:18384426|PMID:18431795|PMID:18497957|PMID:18502988|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:1953577|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19773425|PMID:19781682|PMID:19823873|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21593342|PMID:21665257|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22763152|PMID:22869595|PMID:22927201|PMID:22995991|PMID:23055520|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23125224|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23272087|PMID:23322442|PMID:23360865|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585524|PMID:23612382|PMID:23640770|PMID:23652012|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23960188|PMID:24033266|PMID:24090759|PMID:24142997|PMID:24172824|PMID:24204193|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24568663|PMID:24695838|PMID:24705252|PMID:24728327|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24886963|PMID:2491181|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25115387|PMID:25122203|PMID:25148578|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25303977|PMID:25318351|PMID:25428789|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25589618|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25882375|PMID:25914063|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26023681|PMID:26098866|PMID:26123645|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26207792|PMID:26247737|PMID:26270727|PMID:26296701|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:26635394|PMID:26658419|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26718692|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26911350|PMID:26917275|PMID:26976419|PMID:27034805|PMID:27039262|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27276934|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27479817|PMID:27484032|PMID:27535334|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27664052|PMID:27720647|PMID:27756406|PMID:27779110|PMID:27871447|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27989354|PMID:27993330|PMID:28008555|PMID:28054583|PMID:28055970|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28182994|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28423363|PMID:28451460|PMID:28486781|PMID:28492532|PMID:28497333|PMID:28508083|PMID:28528518|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28598434|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28714976|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28888541|PMID:28894253|PMID:28912153|PMID:28916186|PMID:28966033|PMID:28975465|PMID:29053726|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29271107|PMID:29308099|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29684080|PMID:29753700|PMID:29758562|PMID:29763623|PMID:29769598|PMID:29895855|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29926184|PMID:29945567|PMID:29961768|PMID:29967250|PMID:29978950|PMID:30062048|PMID:30067863|PMID:30093976|PMID:30104763|PMID:30128536|PMID:30159786|PMID:30181556|PMID:30197789|PMID:30256826|PMID:30257646|PMID:30262796|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30482293|PMID:30549301|PMID:30563988|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30625039|PMID:30630526|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30713859|PMID:30716324|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30833958|PMID:30883245|PMID:30888062|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31069529|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31300551|PMID:31341520|PMID:31360874|PMID:31403082|PMID:31415627|PMID:31422574|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31470354|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31626222|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31788995|PMID:31843900|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31948886|PMID:31970404|PMID:32012241|PMID:32019284|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32255556|PMID:32300177|PMID:32321774|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32462469|PMID:32488064|PMID:32531373|PMID:32581083|PMID:32624572|PMID:32658311|PMID:32694154|PMID:32726432|PMID:32748564|PMID:32756499|PMID:32761968|PMID:32775531|PMID:3280694|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32957588|PMID:32959997|PMID:32962506
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33012025|PMID:33047316|PMID:33083949|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33176972|PMID:33181636|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33359728|PMID:33376610|PMID:33395407|PMID:33415580|PMID:33429865|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33758026|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33940787|PMID:34008015|PMID:34196900|PMID:34199532|PMID:34200508|PMID:34204722|PMID:34247626|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34399810|PMID:34401606|PMID:34404412|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477998|PMID:34488871|PMID:34539671|PMID:34573280|PMID:34582042|PMID:34646395|PMID:34659905|PMID:34686943|PMID:34754157|PMID:34791078|PMID:34824606|PMID:34994613|PMID:35008949|PMID:35039564|PMID:35047863|PMID:35076389|PMID:35078243|PMID:35098669|PMID:35101336|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35155181|PMID:35171259|PMID:35171529|PMID:35218119|PMID:35220195|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35402282|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35586824|PMID:35626031|PMID:35666082|PMID:35716007|PMID:35719373|PMID:35729272|PMID:35734982|PMID:3574400|PMID:35884425|PMID:35886069|PMID:35980532|PMID:36000185|PMID:36003761|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36099812|PMID:36117189|PMID:36132150|PMID:36135357|PMID:36139606|PMID:36167400|PMID:36179682|PMID:36243179|PMID:36290365|PMID:36315513|PMID:36315919|PMID:36329109|PMID:36346689|PMID:36387226|PMID:36446039|PMID:36547062|PMID:36627197|PMID:36674612|PMID:36704080|PMID:36744932|PMID:36765721|PMID:36790564|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36966138|PMID:36988593|PMID:37075885|PMID:37091313|PMID:37097610|PMID:37232349|PMID:37239058|PMID:37323311|PMID:37345735|PMID:37436117|PMID:37438524|PMID:37450374|PMID:37453313|PMID:37712079|PMID:37773632|PMID:37802069|PMID:37833309|PMID:38002934|PMID:38003901|PMID:38091153|PMID:38136308|PMID:38153744|PMID:38201484|PMID:38355628|PMID:38416404|PMID:38439815|PMID:38489015|PMID:38522067|PMID:38781545|PMID:38843839|PMID:38854136|PMID:38874686|PMID:38917355|PMID:39021548|PMID:39052144|PMID:39077936|PMID:39226054|PMID:39272813|PMID:39427061|PMID:39521281|PMID:39590369|PMID:40115062|PMID:40161544|PMID:40446793|PMID:40565533|PMID:40580951|PMID:41156180|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:9043869|PMID:9150358|PMID:9259193|PMID:9288106|PMID:9443866|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia	susceptibility	ISO	RGD:1606040	D	RGD:7240710	20260729	OMIM			
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1272	telangiectasis		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telangiectasia	PMID:10330348|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30262796|PMID:8659541|PMID:9150358|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24358288
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1324	lung cancer		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1380	endometrial cancer	susceptibility	ISO	RGD:1606040	D	RGD:9068941	20200609	RGD			PMID:17164260|REF_RGD_ID:2293868
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1389	polyneuropathy		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:11889466|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:25741868|PMID:28492532|PMID:31611883|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:14330	Parkinson's disease		ISO	RGD:1606040	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:cingulate gyrus	PMID:20502937|REF_RGD_ID:10053605
8708960	Atm	ATM serine/threonine kinase	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: tumor	PMID:10330348|PMID:16014569|PMID:16266405|PMID:16603769|PMID:19781682|PMID:20305132|PMID:21665257|PMID:21778326|PMID:22006793|PMID:22529920|PMID:23555315|PMID:23585524|PMID:23807571|PMID:24356096|PMID:25085752|PMID:25186627|PMID:25614872|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26467025|PMID:26580448|PMID:28492532|PMID:28652578|PMID:28779002|PMID:29522266|PMID:29665859|PMID:30303537|PMID:30425284|PMID:30814645|PMID:31447099|PMID:32183301|PMID:32885271|PMID:33415580|PMID:33436325|PMID:33471991|PMID:33646313|PMID:35047863|PMID:35101336|PMID:37149759|PMID:9443866|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1520	colon carcinoma		ISO	RGD:1606040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon	PMID:10817650|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12882767|PMID:12935933|PMID:14695997|PMID:15101044|PMID:15280931|PMID:15880721|PMID:16574953|PMID:16631465|PMID:16832357|PMID:17023046|PMID:17333338|PMID:17341484|PMID:17393301|PMID:17517479|PMID:17623063|PMID:17640065|PMID:19404735|PMID:19431188|PMID:19781682|PMID:20305132|PMID:20826828|PMID:21787400|PMID:21833744|PMID:21933854|PMID:22369572|PMID:22529920|PMID:23091097|PMID:23555315|PMID:23585524|PMID:23807571|PMID:24142997|PMID:24416720|PMID:24728327|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25523272|PMID:25587027|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26009992|PMID:26123645|PMID:26207792|PMID:26467025|PMID:26580448|PMID:26898890|PMID:26901136|PMID:27146902|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:29522266|PMID:29641532|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31415627|PMID:31742824|PMID:32522261|PMID:33471991|PMID:34262154|PMID:34646395|PMID:9792409|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1520	colon carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:10023947|PMID:10464642|PMID:11996792|PMID:12362033|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12882767|PMID:12935933|PMID:14695997|PMID:15101044|PMID:15280931|PMID:15880721|PMID:16167060|PMID:16574953|PMID:16631465|PMID:17000706|PMID:17023046|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17393301|PMID:17502119|PMID:17517479|PMID:17623063|PMID:17640065|PMID:18502988|PMID:18573109|PMID:18701470|PMID:19404735|PMID:19431188|PMID:19781682|PMID:20305132|PMID:20826828|PMID:21787400|PMID:21833744|PMID:21933854|PMID:22369572|PMID:22438227|PMID:22529920|PMID:23091097|PMID:23125224|PMID:23272087|PMID:23555315|PMID:23585524|PMID:24142997|PMID:24416720|PMID:24728327|PMID:25085752|PMID:25148578|PMID:25257301|PMID:25318351|PMID:25523272|PMID:25587027|PMID:25741868|PMID:25980754|PMID:26009992|PMID:26123645|PMID:26207792|PMID:26467025|PMID:26898890|PMID:27146902|PMID:27153395|PMID:27664052|PMID:28202063|PMID:28492532|PMID:28497333|PMID:28598434|PMID:30093976|PMID:31415627|PMID:8665503|PMID:8797579|PMID:9043869|PMID:9792409|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1596	depressive disorder		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Depression	PMID:15054841|PMID:17576681|PMID:25741868|PMID:28492532|PMID:29945567|PMID:33479248|PMID:35047863|PMID:9536098
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26854966|PMID:26878173|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28188106|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:30883245|PMID:30938815|PMID:30995915|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31867841|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:32039725|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33747920|PMID:34262154|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26854966|PMID:26878173|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28188106|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:30883245|PMID:30938815|PMID:30995915|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:32039725|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33747920|PMID:34262154|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34262154|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35047863|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35047863|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36315919|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35047863|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36029002|PMID:36315919|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29058119|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32325837|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34477817|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35047863|PMID:35085662|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35495172|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35980532|PMID:36029002|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36555667
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:36568162|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37262986|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32325837|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34477817|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35085662|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:35365198|PMID:35402282|PMID:35467778|PMID:35495172|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37262986|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967250|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31704732|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34477817|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:35047863|PMID:35085662|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37436117|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:35029067|PMID:35039564|PMID:35047863|PMID:35085662|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35599270|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37436117|PMID:37438524|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967250|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31704732|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34477817|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35029067
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:35039564|PMID:35047863|PMID:35085662|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35599270|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37436117|PMID:37438524|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24584352|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27714650|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28590052|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29785153|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29958926|PMID:29967250|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31704732|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32133419|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:34271781|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34477817|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35599270|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36119527|PMID:36155879|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36845387|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37262986|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37536918|PMID:37762649|PMID:38147532|PMID:38156855|PMID:38489015|PMID:38697030|PMID:38854973|PMID:38874686|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20250527	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24584352|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20250527	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27714650|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28590052|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29785153|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29958926|PMID:29967250|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31704732|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32133419|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34271781|PMID:34299313
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20250527	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:34301788|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34477817|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35599270|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36119527|PMID:36155879|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36845387|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37262986|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37536918|PMID:37762649|PMID:38147532|PMID:38156855|PMID:38489015|PMID:38697030|PMID:38854973|PMID:38874686|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24584352|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27714650|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29785153|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29958926|PMID:29967250|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31704732|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32133419|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:34271781|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34477817|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35599270|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36119527|PMID:36155879|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36845387|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37262986|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37450374|PMID:37536918|PMID:37540892|PMID:37762649|PMID:38118367|PMID:38136308|PMID:38147532|PMID:38156855|PMID:38327652|PMID:38404774|PMID:38489015|PMID:38697030|PMID:38734904|PMID:38854973|PMID:38874686|PMID:39122510|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10817650|PMID:11298136|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11849780|PMID:11996792|PMID:12149228|PMID:12362033|PMID:12473594|PMID:12552559|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:15039971|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16199547|PMID:16266405|PMID:16631465|PMID:16832357|PMID:16941484|PMID:17124347|PMID:17333338|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17876757|PMID:18502988|PMID:18573109|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:20153123|PMID:20305132|PMID:20346647|PMID:20840352|PMID:20981092|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:22006793|PMID:22213089|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23114601|PMID:23242139|PMID:23322442|PMID:23376243|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25037873|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25428789|PMID:25479140|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26098866|PMID:26123645|PMID:26320869|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27468087|PMID:27535334|PMID:27568332|PMID:27616075|PMID:27621404|PMID:27782108|PMID:27878467|PMID:27913932|PMID:28135145|PMID:28202063|PMID:28259476|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28652578|PMID:28724667|PMID:28779002|PMID:28843361|PMID:29053726|PMID:29356034|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29909963|PMID:29945567|PMID:30086788|PMID:30159786|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30579816|PMID:30607632|PMID:30697212|PMID:30816533|PMID:30883245|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31382929|PMID:31422574|PMID:31428572|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31780696|PMID:31794323|PMID:31920950|PMID:32039725|PMID:32183364|PMID:32325837|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33359728|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33804961|PMID:34009545|PMID:34204722|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34628594|PMID:34646395|PMID:34686943|PMID:35029067|PMID:35047863|PMID:35264596|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35626031|PMID:35716007|PMID:35717579|PMID:35980532|PMID:36243179|PMID:36315513|PMID:36898365|PMID:36988593|PMID:37239058|PMID:37436117|PMID:37438524|PMID:38002934|PMID:38156855|PMID:39590369|PMID:40403485|PMID:40580951|PMID:8808599|PMID:8845835|PMID:9443866|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10817650|PMID:11298136|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11849780|PMID:11996792|PMID:12149228|PMID:12362033|PMID:12473594|PMID:12552559|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:15039971|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16199547|PMID:16266405|PMID:16631465|PMID:16832357|PMID:16941484|PMID:17124347|PMID:17333338|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17876757|PMID:18502988|PMID:18573109|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:20153123|PMID:20305132|PMID:20346647|PMID:20840352|PMID:20981092|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:22006793|PMID:22213089|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23114601|PMID:23242139|PMID:23322442|PMID:23376243|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25037873|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25428789|PMID:25479140|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26098866|PMID:26123645|PMID:26320869|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27468087|PMID:27535334|PMID:27568332|PMID:27616075|PMID:27621404|PMID:27782108|PMID:27878467|PMID:27913932|PMID:28135145|PMID:28202063|PMID:28259476|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28652578|PMID:28724667|PMID:28779002|PMID:28843361|PMID:29053726|PMID:29356034|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29909963|PMID:29945567|PMID:30086788|PMID:30159786|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30579816|PMID:30607632|PMID:30697212|PMID:30816533|PMID:30883245|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31382929|PMID:31422574|PMID:31428572|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31780696|PMID:31794323|PMID:31920950|PMID:32039725|PMID:32183364|PMID:32325837|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33359728|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33804961|PMID:34009545|PMID:34204722|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34628594|PMID:34646395|PMID:34686943|PMID:35047863|PMID:35264596|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35626031|PMID:35716007|PMID:35717579|PMID:35980532|PMID:36243179|PMID:36315513|PMID:36898365|PMID:36988593|PMID:37239058|PMID:37436117|PMID:37438524|PMID:38002934|PMID:38156855|PMID:39590369|PMID:40403485|PMID:40580951|PMID:8808599|PMID:8845835|PMID:9443866|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:10330348|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10817650|PMID:10873394|PMID:11078475|PMID:11298136|PMID:11505391|PMID:11606401|PMID:11756177|PMID:11897820|PMID:11897822|PMID:12149228|PMID:12473594|PMID:12552559|PMID:12673797|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12917204|PMID:1300551|PMID:14695186|PMID:14695534|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15928302|PMID:16014569|PMID:16199547|PMID:16266405|PMID:16652348|PMID:16832357|PMID:16941484|PMID:16998505|PMID:17124347|PMID:17203191|PMID:17293864|PMID:17333338|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17623063|PMID:17910737|PMID:18164969|PMID:18431795|PMID:18565893|PMID:19081671|PMID:19347964|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20111735|PMID:20153123|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20826828|PMID:21396839|PMID:21445571|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22213089|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23114601|PMID:23242139|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23726790|PMID:23807571|PMID:23810757|PMID:24142997|PMID:24172824|PMID:24204193|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24935205|PMID:25037873|PMID:25085752|PMID:25101980|PMID:25122203|PMID:25186627|PMID:25318351|PMID:25428789|PMID:25479140|PMID:25480502|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25882375|PMID:25892863|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26094658|PMID:26098866|PMID:26123645|PMID:26164066|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26580448|PMID:26681312|PMID:26689913|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26896183|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27460089|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27779110|PMID:27884168|PMID:27913932|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28196074|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28767289|PMID:28779002|PMID:28843361|PMID:29053726|PMID:29371908|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29945567|PMID:30086788|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30338439|PMID:30425284|PMID:30426508|PMID:30579816|PMID:30814645|PMID:30883245|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31429931|PMID:31658756|PMID:31691010|PMID:31719806|PMID:31741144|PMID:31780696|PMID:31815095|PMID:31882575|PMID:31920950|PMID:32183301|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32427313|PMID:32461654|PMID:32832836|PMID:32854451|PMID:32866655|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33359728|PMID:33395407|PMID:33415580|PMID:33436325|PMID:33462019|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34628594|PMID:34646395|PMID:34686943|PMID:35008949|PMID:35047863|PMID:35101336|PMID:35145552|PMID:35264596|PMID:35273153|PMID:35451682|PMID:35495172|PMID:35534704|PMID:35626031|PMID:35652560|PMID:3574400|PMID:35980532|PMID:36029002|PMID:36315919|PMID:36898365|PMID:36988593|PMID:37436117|PMID:37438524|PMID:38002934|PMID:38520597|PMID:38874686|PMID:39590369|PMID:40580951|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8968760|PMID:9443866|PMID:9463314|PMID:9792409|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1606040	D	RGD:7240710	20260729	OMIM			
8708960	Atm	ATM serine/threonine kinase	gene	DOID:162	cancer		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ATM-related cancer predisposition	PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11443540|PMID:114480|PMID:11505391|PMID:11606401|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:12149228|PMID:12473594|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12935933|PMID:14695534|PMID:14735203|PMID:15042666|PMID:15280931|PMID:15756685|PMID:15843990|PMID:15928302|PMID:16014569|PMID:16199547|PMID:16266405|PMID:16652348|PMID:16941484|PMID:16998505|PMID:17124347|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18497957|PMID:18565893|PMID:18701470|PMID:18846412|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19773425|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20826828|PMID:20840352|PMID:21396839|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22006793|PMID:22071889|PMID:22213089|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23807571|PMID:23810757|PMID:23960188|PMID:24033266|PMID:24142997|PMID:24204193|PMID:24416720|PMID:24549055|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:25037873|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25479140|PMID:25480502|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26123645|PMID:26164066|PMID:26467025|PMID:26506520|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27884168|PMID:27978560|PMID:28087566|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28282032|PMID:28451460|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28714976|PMID:28724667|PMID:28779002|PMID:28873162|PMID:29053726|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29665859|PMID:29684080|PMID:29909963|PMID:29922827|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30374176|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30661751|PMID:30697212|PMID:30772474|PMID:30816533|PMID:30819809|PMID:30957677|PMID:31050087|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31350202|PMID:31422574|PMID:31429931|PMID:31432501|PMID:31472684|PMID:31611883|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31794323|PMID:31843900|PMID:31921190|PMID:32068069|PMID:32255556|PMID:32325837|PMID:32371905|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32802943|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32986223|PMID:33095795|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33624863|PMID:33747920|PMID:33850299|PMID:34107524|PMID:34200508|PMID:34262154|PMID:34326862|PMID:34488871|PMID:34489640|PMID:34539671|PMID:35008949|PMID:35047863|PMID:35078243|PMID:35095854|PMID:35098669|PMID:35257272|PMID:35264596|PMID:35304488|PMID:35441217|PMID:35475445|PMID:35534704|PMID:35666082|PMID:3574400|PMID:35980532|PMID:36167400|PMID:36243179|PMID:36293153|PMID:36315513|PMID:36315919|PMID:36547062|PMID:36898365|PMID:36966138|PMID:36988593|PMID:37097610|PMID:37232349|PMID:37438524|PMID:37712079|PMID:37773632|PMID:38002934
8708960	Atm	ATM serine/threonine kinase	gene	DOID:162	cancer		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ATM-related cancer predisposition	PMID:38091153|PMID:38136308|PMID:38522067|PMID:38781545|PMID:38843839|PMID:39138584|PMID:40580951|PMID:8698354|PMID:8797579|PMID:8808599|PMID:8845835|PMID:9043869|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9622061|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25125259
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1606040	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:26098866|PMID:26098869
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1606040	D	RGD:9068941	20260709	RGD		DNA:SNP: :60G>A(human)	PMID:18381943|REF_RGD_ID:2317234
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1606040	D	RGD:9068941	20260709	RGD		DNA:SNP:intron:rs664677 (human)	PMID:16520463|REF_RGD_ID:2317367
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:1606040	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:rs1801516(human)	PMID:19147782|REF_RGD_ID:2317363
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1824	status epilepticus		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:11852039|REF_RGD_ID:1599366
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1909	melanoma		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21983787
8708960	Atm	ATM serine/threonine kinase	gene	DOID:1984	rectal benign neoplasm		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rectal neoplasm	PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934
8708960	Atm	ATM serine/threonine kinase	gene	DOID:2030	anxiety disorder		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:15054841|PMID:17576681|PMID:25741868|PMID:28492532|PMID:29945567|PMID:33479248|PMID:35047863|PMID:9536098
8708960	Atm	ATM serine/threonine kinase	gene	DOID:219	colon cancer		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:25741868|PMID:28492532|PMID:28779002|PMID:29522266|PMID:29641532|PMID:33471991
8708960	Atm	ATM serine/threonine kinase	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:15054841|PMID:17576681|PMID:25741868|PMID:28492532|PMID:33479248|PMID:9536098
8708960	Atm	ATM serine/threonine kinase	gene	DOID:2349	arteriosclerosis	susceptibility	ISO	RGD:10199	D	RGD:9068941	20200609	RGD			PMID:15863839|REF_RGD_ID:1601249
8708960	Atm	ATM serine/threonine kinase	gene	DOID:2394	ovarian cancer		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer	PMID:11443540|PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:19404735|PMID:20305132|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28135048|PMID:28492532|PMID:28580595|PMID:28779002|PMID:30287823|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33471991|PMID:34262154|PMID:36315919|PMID:38002934
8708960	Atm	ATM serine/threonine kinase	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma | ClinVar Annotator: match by term: endometrium carcinoma	PMID:10397742|PMID:10817650|PMID:11443540|PMID:11606401|PMID:11996792|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:133608|PMID:14735203|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16631465|PMID:17124347|PMID:17351744|PMID:17393301|PMID:17490827|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23585524|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26898890|PMID:26917275|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27443514|PMID:27568332|PMID:27782108|PMID:28202063|PMID:28492532|PMID:31206626|PMID:31382929|PMID:32522261|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:34009545|PMID:38002934|PMID:9872980|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:133608|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27443514|PMID:27568332|PMID:28492532|PMID:31206626|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934
8708960	Atm	ATM serine/threonine kinase	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infiltrating duct carcinoma of breast	PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934
8708960	Atm	ATM serine/threonine kinase	gene	DOID:3275	thymoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8708960	Atm	ATM serine/threonine kinase	gene	DOID:3277	thymus cancer		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymus cancer	PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934
8708960	Atm	ATM serine/threonine kinase	gene	DOID:3312	bipolar disorder		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:15054841|PMID:17576681|PMID:25741868|PMID:28492532|PMID:33479248|PMID:9536098
8708960	Atm	ATM serine/threonine kinase	gene	DOID:3459	breast carcinoma		ISO	RGD:1606040	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast | ClinVar Annotator: match by term: Multifocal breast carcinoma	PMID:10330348|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11606401|PMID:11805335|PMID:12810666|PMID:12815592|PMID:15039971|PMID:15279808|PMID:15390180|PMID:16014569|PMID:16266405|PMID:16832357|PMID:16864838|PMID:17124347|PMID:17344846|PMID:17576681|PMID:18384426|PMID:18634022|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19691550|PMID:20153123|PMID:20301790|PMID:21354641|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:21965147|PMID:22146522|PMID:22213089|PMID:22529920|PMID:22585167|PMID:23264026|PMID:23585524|PMID:23807571|PMID:25077176|PMID:25122203|PMID:25479140|PMID:2557216|PMID:25572163|PMID:25614872|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26681312|PMID:26787654|PMID:26837699|PMID:26976419|PMID:27159176|PMID:27433846|PMID:27484032|PMID:27664052|PMID:27884168|PMID:28120234|PMID:28126470|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28726808|PMID:28779002|PMID:28843361|PMID:29478780|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31050087|PMID:31159747|PMID:31741144|PMID:32658311|PMID:32854451|PMID:32957588|PMID:33280026|PMID:8755918|PMID:9463314|PMID:9536098|PMID:9622061|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:3459	breast carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:10330348|PMID:10873394|PMID:11505391|PMID:11606401|PMID:12149228|PMID:12473594|PMID:12552559|PMID:12697903|PMID:12810666|PMID:14735203|PMID:14754616|PMID:16652348|PMID:16941484|PMID:17124347|PMID:17393301|PMID:17490827|PMID:19431188|PMID:19781682|PMID:20305132|PMID:20678261|PMID:20840352|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23807571|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26689913|PMID:26787654|PMID:26837699|PMID:26917275|PMID:26976419|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27568332|PMID:27913932|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28528518|PMID:28652578|PMID:28767289|PMID:28779002|PMID:28873162|PMID:29522266|PMID:29641532|PMID:30262796|PMID:30303537|PMID:30883245|PMID:31159747|PMID:31206626|PMID:31422574|PMID:31658756|PMID:31920950|PMID:32854451|PMID:32986223|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33395407|PMID:33436325|PMID:33471991|PMID:34299313|PMID:34326862|PMID:34371384|PMID:34399810|PMID:35047863|PMID:35171259|PMID:35264596|PMID:35467778|PMID:36029002|PMID:36035419|PMID:36315919|PMID:36555667|PMID:38002934|PMID:8797579|PMID:9463314|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:1606040	D	RGD:9068941	20200609	RGD		protein:decreased expression:lymph node	PMID:10748873|REF_RGD_ID:1643351
8708960	Atm	ATM serine/threonine kinase	gene	DOID:3462	hamartoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hamartoma	PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934
8708960	Atm	ATM serine/threonine kinase	gene	DOID:3571	liver cancer	ameliorates	ISO	RGD:10199	D	RGD:9068941	20210903	RGD			PMID:19919837|REF_RGD_ID:150340702
8708960	Atm	ATM serine/threonine kinase	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		Smoke Inhalation Injury; mRNA:increased expression:esophagus (human)	PMID:17019709|REF_RGD_ID:150340713
8708960	Atm	ATM serine/threonine kinase	gene	DOID:3907	lung squamous cell carcinoma	susceptibility	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		DNA:SNP:intron:(rs228589) (human)	PMID:28642860|REF_RGD_ID:150383339
8708960	Atm	ATM serine/threonine kinase	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		DNA:SNPs,haplotypes:intron: (rs227060, rs170548) (human)	PMID:17582598|REF_RGD_ID:150383340
8708960	Atm	ATM serine/threonine kinase	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		human cells in mouse model	PMID:23632475|REF_RGD_ID:150404268
8708960	Atm	ATM serine/threonine kinase	gene	DOID:3944	Arenaviridae infectious disease		ISO	RGD:10199	D	RGD:9068941	20210409	RGD			PMID:21641396|REF_RGD_ID:126779561
8708960	Atm	ATM serine/threonine kinase	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal cortex carcinoma	
8708960	Atm	ATM serine/threonine kinase	gene	DOID:3969	papillary thyroid carcinoma	susceptibility	ISO	RGD:1606040	D	RGD:9068941	20231026	RGD		associated with Radiation-Induced Neoplasms;DNA:SNPs,haplotypes:exon 39,intron 22,intron 48: p.D1853N, IVS22-77 T>C, IVS48 + 238 C>G (rs1801516, rs664677, rs609429)	PMID:19286843|REF_RGD_ID:401850780
8708960	Atm	ATM serine/threonine kinase	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian carcinoma	PMID:10330348|PMID:10817650|PMID:16461462|PMID:17124347|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:39521281
8708960	Atm	ATM serine/threonine kinase	gene	DOID:4007	bladder carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary bladder carcinoma	PMID:25741868|PMID:28492532|PMID:28779002|PMID:29522266|PMID:29641532|PMID:33471991
8708960	Atm	ATM serine/threonine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934
8708960	Atm	ATM serine/threonine kinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:11849780|PMID:17124347|PMID:17517479|PMID:20077034|PMID:25741868|PMID:26467025|PMID:26635394|PMID:28492532|PMID:36315513|PMID:36547062|PMID:40580951|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:4606	bile duct cancer		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bile duct cancer	PMID:11849780|PMID:17124347|PMID:17517479|PMID:20077034|PMID:25741868|PMID:26467025|PMID:26635394|PMID:28492532|PMID:36315513|PMID:36547062|PMID:40580951|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1606040	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5082	liver cirrhosis		ISO	RGD:1606040	D	RGD:9068941	20230518	CTD		CTD Direct Evidence: marker/mechanism	PMID:36526012
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5223	infertility		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		DNA:deletion:exon:	PMID:28007901|REF_RGD_ID:12879399
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5223	infertility		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:	PMID:27895165|REF_RGD_ID:12879393
8708960	Atm	ATM serine/threonine kinase	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1606040	D	RGD:9068941	20210430	RGD		protein:decreased expression:T cell (human)	PMID:31781094|REF_RGD_ID:126790561
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5409	lung small cell carcinoma	susceptibility	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		DNA:SNP:intron:(rs227060) (human)	PMID:28642860|REF_RGD_ID:150383339
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24451234|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome	PMID:30541756|PMID:30549301|PMID:30553997|PMID:30819809|PMID:30851086|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31422574|PMID:31428572|PMID:31666926|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32295079|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32866190|PMID:32958592|PMID:32986223|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33436325|PMID:33471991|PMID:33606809|PMID:33630411|PMID:34204722|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24451234|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28492532|PMID:28503720|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30819809|PMID:30851086|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33747920|PMID:33850299|PMID:34204722|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326637|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28451460|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30819809|PMID:30851086|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34359559|PMID:34646395|PMID:34994613|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34262154|PMID:34359559|PMID:34646395|PMID:34994613|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34262154|PMID:34359559|PMID:34646395|PMID:34994613|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27989354
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34994613|PMID:35534218|PMID:35666082|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326637|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34994613|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34994613|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35892882|PMID:35893033|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36167400|PMID:36200007|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36315919|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36315919|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36315919|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326637|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34117267|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35085662|PMID:35098669|PMID:35245693|PMID:35264596|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36315919|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326637|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28008555|PMID:28093192|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35312250|PMID:35451682|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:581456|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19018867|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24951259|PMID:24954719|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326635|PMID:25356970|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25741916|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29485843|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34445196|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37436117|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19018867|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24951259|PMID:24954719|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26270727
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34445196|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37436117|PMID:38017116|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37436117|PMID:38017116|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37436117|PMID:38017116|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37262986|PMID:37436117|PMID:38017116|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37436117|PMID:37529773|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19018867|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24951259|PMID:24954719|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26247737|PMID:26250988
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37436117|PMID:37529773|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19018867|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24951259|PMID:24954719|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326635|PMID:25326637|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26220245|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36685941|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37306523|PMID:37436117|PMID:37529773|PMID:37762649|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26247737|PMID:26250988|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34426522|PMID:34445196|PMID:34489640|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36685941|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37306523|PMID:37436117|PMID:37529773|PMID:37762649|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19018867|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24951259|PMID:24954719|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792|PMID:26220245
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26247737|PMID:26250988|PMID:26270727|PMID:26380989|PMID:26416026|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28617965|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29597095|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34426522|PMID:34445196|PMID:34489640|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36685941|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37306523|PMID:37436117|PMID:37529773|PMID:37762649|PMID:38017116|PMID:38028594|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19018867|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24951259|PMID:24954719|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34426522|PMID:34445196|PMID:34489640|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35218119|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37013556|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37306523|PMID:37349538|PMID:37436117|PMID:37529773|PMID:37762649|PMID:38017116|PMID:38028594|PMID:38153744|PMID:38156855|PMID:38489015|PMID:38854973|PMID:39077936|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26220245|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30620386|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33003326|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33525650|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34426522|PMID:34445196|PMID:34489640|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35218119|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36744932|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37013556|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37306523|PMID:37349538|PMID:37436117|PMID:37529773|PMID:37762649|PMID:38017116|PMID:38028594|PMID:38153744|PMID:38156855|PMID:38489015|PMID:38854973|PMID:39077936|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:26220245|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31691010|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33003326|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33525650|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34426522|PMID:34445196|PMID:34489640|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35218119|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36744932|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37013556|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37306523|PMID:37349538|PMID:37436117|PMID:37529773|PMID:37762649|PMID:38017116|PMID:38028594|PMID:38153744|PMID:38156855|PMID:38489015|PMID:38496821|PMID:38854973|PMID:39077936|PMID:39085400|PMID:39226054|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19018867|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:26155992|PMID:26164066|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28590052|PMID:28591191|PMID:28608266|PMID:28625278|PMID:28640387|PMID:28652578|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159474|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31691010|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33003326|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33525650|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33779842|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34426522|PMID:34445196|PMID:34489640|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35218119|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36685941|PMID:36703223|PMID:36744932|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37013556|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37306523|PMID:37349538|PMID:37436117|PMID:37529773|PMID:37762649|PMID:38017116|PMID:38028594|PMID:38153744|PMID:38156855|PMID:38313678|PMID:38355628|PMID:38489015|PMID:38496821|PMID:38854973|PMID:39077936|PMID:39085400|PMID:39226054|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9259193|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19018867|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:26164066|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28625278|PMID:28640387|PMID:28652578|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159474|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31691010|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32802943|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33003326|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33525650|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33779842|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34426522|PMID:34445196|PMID:34489640|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35218119|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35358259|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36685941|PMID:36703223|PMID:36744932|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37013556|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37306523|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37529773|PMID:37762649|PMID:38017116|PMID:38028594|PMID:38118367|PMID:38136308|PMID:38153744|PMID:38156855|PMID:38313678|PMID:38355628|PMID:38489015|PMID:38496821|PMID:38673061|PMID:38734904|PMID:38854973|PMID:38896321|PMID:38917355|PMID:39077936|PMID:39085400|PMID:39122510|PMID:39226054|PMID:39256447|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9259193|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12362033|PMID:12473594|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23555315|PMID:23585524|PMID:23726790|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24951259|PMID:24954719|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25122203|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26207792|PMID:26250988|PMID:26467025|PMID:26506520|PMID:26580448|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26911350|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27994516|PMID:28087566|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28640387|PMID:28652578|PMID:28717660
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder	PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29059438|PMID:29360550|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29684080|PMID:29778231|PMID:29906526|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30425284|PMID:30426508|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30620386|PMID:30639167|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31589614|PMID:31638252|PMID:31666926|PMID:31691010|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31942411|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32748564|PMID:32802943|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33003326|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33471191|PMID:33471991|PMID:33525650|PMID:33544757|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33624863|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33779842|PMID:33850299|PMID:33875564|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34489640|PMID:34646395|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35098669|PMID:35218119|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35716007|PMID:35717579|PMID:35980532|PMID:36029002|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36685941|PMID:36744932|PMID:36853301|PMID:36898365|PMID:36988593|PMID:37013556|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37306523|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37529773|PMID:37762649|PMID:38153744|PMID:38156855|PMID:38355628|PMID:39077936|PMID:39226054|PMID:39256447|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8845835|PMID:9043869|PMID:9288106|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10677309|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11849780|PMID:11889466|PMID:11996792|PMID:12149228|PMID:12473594|PMID:12552559|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12935933|PMID:12969974|PMID:14695186|PMID:14735203|PMID:14754616|PMID:15042666|PMID:15101044|PMID:15280931|PMID:15756685|PMID:16199547|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16941484|PMID:17000706|PMID:17124347|PMID:17333338|PMID:17341484|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17640065|PMID:17876757|PMID:18321536|PMID:18502988|PMID:18573109|PMID:18634022|PMID:18701470|PMID:19147735|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19770270|PMID:19781682|PMID:20077034|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20826828|PMID:20981092|PMID:21445571|PMID:21447618|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:22213089|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24120321|PMID:24142997|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24954719|PMID:25037873|PMID:25077176|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26270727|PMID:26467025|PMID:26506520|PMID:26580448|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26771497|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27067391|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27468087|PMID:27568332|PMID:27595995|PMID:27613453|PMID:27671921|PMID:27782108|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27980538|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28503720|PMID:28640387|PMID:28652578|PMID:28724667|PMID:28726808|PMID:28779002|PMID:28843361|PMID:29059438|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29785153|PMID:30128536|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30549301|PMID:30666157|PMID:30883245|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31382929|PMID:31428572|PMID:31432501|PMID:31780696|PMID:31843900|PMID:31871109|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32325837|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32832836|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33003326|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33779842|PMID:33850299|PMID:34009545|PMID:34262154|PMID:34271781|PMID:34326862|PMID:34646395|PMID:35029067|PMID:35047863|PMID:35145552|PMID:35171259|PMID:35218119|PMID:35264596|PMID:35365198|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35716007|PMID:35717579|PMID:35980532|PMID:36029002|PMID:36135357|PMID:36243179|PMID:36315513|PMID:36547062|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37436117|PMID:37438524|PMID:37529773|PMID:38002934|PMID:38156855|PMID:39256447|PMID:40580951|PMID:8789452|PMID:9288106|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10677309|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11849780|PMID:11889466|PMID:11996792|PMID:12149228|PMID:12473594|PMID:12552559|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12935933|PMID:12969974|PMID:14695186|PMID:14735203|PMID:14754616|PMID:15042666|PMID:15101044|PMID:15280931|PMID:15756685|PMID:16199547|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16941484|PMID:17000706|PMID:17124347|PMID:17333338|PMID:17341484|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17640065|PMID:17876757|PMID:18321536|PMID:18502988|PMID:18573109|PMID:18634022|PMID:18701470|PMID:19147735|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19770270|PMID:19781682|PMID:20077034|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20826828|PMID:20981092|PMID:21445571|PMID:21447618|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:22213089|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24120321|PMID:24142997|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24954719|PMID:25037873|PMID:25077176|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26270727|PMID:26467025|PMID:26506520|PMID:26580448|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26771497|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27067391|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27468087|PMID:27568332|PMID:27595995|PMID:27613453|PMID:27671921|PMID:27782108|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27980538|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28503720|PMID:28640387|PMID:28652578|PMID:28724667|PMID:28726808|PMID:28779002|PMID:28843361|PMID:29059438|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29785153|PMID:30128536|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30549301|PMID:30666157|PMID:30883245|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31382929|PMID:31428572|PMID:31432501|PMID:31780696|PMID:31843900|PMID:31871109|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32255556|PMID:32325837|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32832836|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33191115|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33779842|PMID:33850299|PMID:34009545|PMID:34262154|PMID:34271781|PMID:34326862|PMID:34646395|PMID:35047863|PMID:35145552|PMID:35171259|PMID:35264596|PMID:35365198|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35716007|PMID:35717579|PMID:35980532|PMID:36029002|PMID:36135357|PMID:36243179|PMID:36315513|PMID:36547062|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37436117|PMID:37438524|PMID:37529773|PMID:38002934|PMID:38156855|PMID:39256447|PMID:40580951|PMID:8789452|PMID:9288106|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10677309|PMID:10817650|PMID:10864201|PMID:10873394|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11849780|PMID:11996792|PMID:12149228|PMID:12362033|PMID:12473594|PMID:12552559|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12935933|PMID:12969974|PMID:14695186|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15280931|PMID:15756685|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16832357|PMID:17000706|PMID:17124347|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17640065|PMID:17876757|PMID:18384426|PMID:18502988|PMID:18573109|PMID:18701470|PMID:19147735|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19770270|PMID:19781682|PMID:20077034|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20826828|PMID:20981092|PMID:21445571|PMID:21447618|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21965147|PMID:22213089|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23114601|PMID:23125224|PMID:23272087|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24120321|PMID:24142997|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24954719|PMID:25077176|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26182300|PMID:26467025|PMID:26506520|PMID:26580448|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26771497|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27067391|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27468087|PMID:27484032|PMID:27568332|PMID:27595995|PMID:27664052|PMID:27782108|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27980538|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28598434|PMID:28652578|PMID:28724667|PMID:28779002|PMID:28843361|PMID:29059438|PMID:29478780|PMID:29522266|PMID:29625052|PMID:29659569|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30128536|PMID:30256826|PMID:30257646|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30549301|PMID:30666157|PMID:30772474|PMID:30883245|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31382929|PMID:31415627|PMID:31428572|PMID:31432501|PMID:31589614|PMID:31780696|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32255556|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33191115|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33758026|PMID:33850299|PMID:34009545|PMID:34262154|PMID:34271781|PMID:34326862|PMID:34337741|PMID:34646395|PMID:35078243|PMID:35171259|PMID:35264596|PMID:35365198|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35716007|PMID:35717579|PMID:35980532|PMID:36029002|PMID:36135357|PMID:36243179|PMID:36315513|PMID:36547062|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37436117|PMID:37438524|PMID:38002934|PMID:38156855|PMID:40580951|PMID:8665503|PMID:8755918|PMID:8797579|PMID:9043869|PMID:9288106|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10873394|PMID:11078475|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11756177|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12149228|PMID:12362033|PMID:12473594|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935933|PMID:12969974|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15280931|PMID:15756685|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16998505|PMID:17000706|PMID:17023046|PMID:17124347|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:18164969|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19770270|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20826828|PMID:21396839|PMID:21447618|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22213089|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23125224|PMID:23272087|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24204193|PMID:24356096|PMID:24416720|PMID:24448499|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25085752|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26123645|PMID:26164066|PMID:26207792|PMID:26467025|PMID:26506520|PMID:26580448|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27034805|PMID:27067391|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27479817|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27664052|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27980538|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28497333|PMID:28580595|PMID:28598434|PMID:28652578|PMID:28714976|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:29059438|PMID:29371908|PMID:29458332|PMID:29482223|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:30093976|PMID:30128536|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30374176|PMID:30425284|PMID:30426508|PMID:30549301|PMID:30666157|PMID:30814645|PMID:30883245|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31415627|PMID:31422574|PMID:31429931|PMID:31432501|PMID:31719806|PMID:31780696|PMID:31871109|PMID:31882575|PMID:32068069|PMID:32183301|PMID:32255556|PMID:32325837|PMID:32371905|PMID:32566746|PMID:32832836|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33415580|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:34200508|PMID:34262154|PMID:34326862|PMID:34488871|PMID:34646395|PMID:34994613|PMID:35047863|PMID:35098669|PMID:35101336|PMID:35171259|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35495172
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:35534218|PMID:35534704|PMID:35666082|PMID:35716007|PMID:35980532|PMID:36029002|PMID:36135357|PMID:36167400|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36547062|PMID:36744932|PMID:36898365|PMID:36966138|PMID:36988593|PMID:37097610|PMID:37436117|PMID:37438524|PMID:37773632|PMID:38002934|PMID:38136308|PMID:38522067|PMID:38781545|PMID:39226054|PMID:40580951|PMID:8665503|PMID:8797579|PMID:9043869|PMID:9121450|PMID:9288106|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9792409|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5844	myocardial infarction		ISO	RGD:10199	D	RGD:9068941	20200609	RGD			PMID:24358288|REF_RGD_ID:10053570
8708960	Atm	ATM serine/threonine kinase	gene	DOID:5844	myocardial infarction		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24358288
8708960	Atm	ATM serine/threonine kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8708960	Atm	ATM serine/threonine kinase	gene	DOID:6214	ovarian papillary neoplasm		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian papillary tumor	PMID:11505391|PMID:11606401|PMID:14754616|PMID:16652348|PMID:17393301|PMID:19431188|PMID:20305132|PMID:21933854|PMID:24416720|PMID:24728327|PMID:25085752|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532|PMID:28652578|PMID:28767289|PMID:33280026|PMID:35047863|PMID:35264596|PMID:36315919|PMID:8797579|PMID:9463314|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:6741	bilateral breast cancer		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bilateral breast cancer | ClinVar Annotator: match by term: Bilateral breast carcinoma | ClinVar Annotator: match by term: bilateral breast cancer	PMID:11505391|PMID:11606401|PMID:11746755|PMID:11849780|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:14754616|PMID:15843990|PMID:16199547|PMID:16652348|PMID:17393301|PMID:17490827|PMID:17517479|PMID:19404735|PMID:19431188|PMID:20305132|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21933854|PMID:21965147|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23807571|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26681312|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27568332|PMID:27913932|PMID:28492532|PMID:28495237|PMID:28652578|PMID:28767289|PMID:29596542|PMID:29731985|PMID:31050087|PMID:31118792|PMID:32338768|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:34196900|PMID:35047863|PMID:35264596|PMID:35716007|PMID:36315919|PMID:36933202|PMID:36988593|PMID:38002934|PMID:38374498|PMID:38415270|PMID:8797579|PMID:9463314|PMID:9872980|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8708960	Atm	ATM serine/threonine kinase	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1606040	D	RGD:9068941	20210423	RGD		protein:increased expression:liver (human)	PMID:12866955|REF_RGD_ID:126781750
8708960	Atm	ATM serine/threonine kinase	gene	DOID:687	hepatoblastoma		ISO	RGD:1606040	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	PMID:11756177|PMID:16832357|PMID:17333338|PMID:19781682|PMID:20305132|PMID:24728327|PMID:25085752|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26837699|PMID:27913932|PMID:28492532|PMID:28779002|PMID:29522266|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30995915|PMID:31780696|PMID:32325837|PMID:33128190|PMID:33359728|PMID:33436325|PMID:34262154|PMID:34646395|PMID:35264596|PMID:35495172|PMID:35980532|PMID:37436117
8708960	Atm	ATM serine/threonine kinase	gene	DOID:767	muscular atrophy		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:11889466|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:25741868|PMID:28492532|PMID:31611883|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:83	cataract		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16799786
8708960	Atm	ATM serine/threonine kinase	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:1606040	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:prostate gland	PMID:16997395|REF_RGD_ID:2293869
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:21748659|REF_RGD_ID:10053608
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9000099	Experimental Colitis	exacerbates	ISO	RGD:10199	D	RGD:9068941	20210423	RGD			PMID:20179206|REF_RGD_ID:126781749
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9000113	Pneumococcal Meningitis	ameliorates	ISO	RGD:10199	D	RGD:9068941	20210423	RGD			PMID:15529270|REF_RGD_ID:126781748
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neoplasm of stomach	PMID:11505391|PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:14754616|PMID:16652348|PMID:17393301|PMID:17490827|PMID:19431188|PMID:20305132|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27568332|PMID:28492532|PMID:28652578|PMID:28767289|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:35047863|PMID:35264596|PMID:36315919|PMID:38002934|PMID:8797579|PMID:9463314|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9000371	influenza A	exacerbates	ISO	RGD:10199	D	RGD:9068941	20210409	RGD			PMID:31509427|REF_RGD_ID:126779564
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9000495	Tremor		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intention tremor	PMID:11889466|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:25741868|PMID:28492532|PMID:31611883|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9000784	Fibrosis		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24358288
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9000808	Hypercholesterolemia	susceptibility	ISO	RGD:10199	D	RGD:9068941	20200609	RGD			PMID:15863839|REF_RGD_ID:1601249
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21177254
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:11298136|PMID:12815592|PMID:23322442|PMID:25525159|PMID:25741868|PMID:28492532|PMID:8845835
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9001329	Tumor Predisposition Syndrome		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tumor predisposition syndrome	PMID:10873394|PMID:12072877|PMID:12497634|PMID:12637545|PMID:12815592|PMID:15101044|PMID:17699107|PMID:21665257|PMID:21965147|PMID:23322442|PMID:23807571|PMID:25614872|PMID:25741868|PMID:26778106|PMID:26845104|PMID:28152038|PMID:28492532|PMID:29506128|PMID:29915382|PMID:30274973|PMID:31050087|PMID:31447099|PMID:31741144|PMID:32338768|PMID:33436325|PMID:33471991|PMID:35154108|PMID:8845835|PMID:8968760|PMID:9450906
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9001722	Dysarthria		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:23807571|PMID:25614872|PMID:25741868|PMID:27153395|PMID:28492532|PMID:9792409
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17968022
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17502119|PMID:25415046|PMID:26098866|PMID:29610475
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1606040	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:14983937|REF_RGD_ID:2293870
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:23807571|PMID:25614872|PMID:25741868|PMID:27153395|PMID:28492532|PMID:9792409
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:11889466|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:23807571|PMID:25614872|PMID:25741868|PMID:27153395|PMID:28492532|PMID:30262796|PMID:31611883|PMID:8659541|PMID:9150358|PMID:9792409|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian neoplasm	PMID:12697903|PMID:1739330|PMID:17393301|PMID:19781682|PMID:20305132|PMID:21787400|PMID:23074045|PMID:23555315|PMID:24204193|PMID:24886963|PMID:25085752|PMID:25741868|PMID:25980754|PMID:26009992|PMID:26164066|PMID:26467025|PMID:26787654|PMID:26837699|PMID:26976419|PMID:27460089|PMID:28196074|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28580595|PMID:28652578|PMID:29371908|PMID:30287823|PMID:30957677|PMID:31422574
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9002834	Herpesviridae Infections	ameliorates	ISO	RGD:10199	D	RGD:9068941	20210416	RGD			PMID:22993144|PMID:28701397|REF_RGD_ID:126781689|REF_RGD_ID:126781691
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9003694	Cecal Neoplasms		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cecal neoplasm	PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:26467025|PMID:26667234|PMID:27034805|PMID:28492532|PMID:32885271|PMID:39052144
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:10199	D	RGD:9068941	20210423	RGD			PMID:24184056|REF_RGD_ID:126781746
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9004590	Acute Liver Failure	treatment	ISO	RGD:10199	D	RGD:9068941	20200609	RGD			PMID:21224054|REF_RGD_ID:10053606
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9004590	Acute Liver Failure	treatment	ISO	RGD:1593265	D	RGD:9068941	20200609	RGD			PMID:24565947|REF_RGD_ID:10053604
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9004866	Ataxia		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Truncal ataxia	PMID:11298136|PMID:12815592|PMID:23322442|PMID:23807571|PMID:25525159|PMID:25614872|PMID:25741868|PMID:27153395|PMID:28492532|PMID:8845835|PMID:9792409
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer | ClinVar Annotator: match by term: Hereditary prostate cancer	PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:23807571|PMID:25614872|PMID:25741868|PMID:27153395|PMID:28492532|PMID:9792409
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:12697903|PMID:12810666|PMID:12882767|PMID:14695997|PMID:16631465|PMID:17023046|PMID:17393301|PMID:17623063|PMID:17640065|PMID:19781682|PMID:20305132|PMID:21787400|PMID:21933854|PMID:22369572|PMID:22529920|PMID:23091097|PMID:23555315|PMID:23807571|PMID:24142997|PMID:24416720|PMID:24728327|PMID:25085752|PMID:25148578|PMID:25257301|PMID:25523272|PMID:25587027|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26009992|PMID:26123645|PMID:26207792|PMID:26467025|PMID:26898890|PMID:27146902|PMID:27153395|PMID:28492532|PMID:30093976|PMID:9792409
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9005936	Gastro-Enteropancreatic Neuroendocrine Tumor	disease_progression	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		associated with Neoplasm Metastasis;mRNA, protein: decreased expression:gastrointestinal system, multiple (human)	PMID:22485171|REF_RGD_ID:150340716
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:22768306|REF_RGD_ID:10053607
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:25741868
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9006644	Retroviridae Infections	ameliorates	ISO	RGD:10199	D	RGD:9068941	20210423	RGD			PMID:15661267|REF_RGD_ID:126781747
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:10199	D	RGD:9068941	20200609	RGD			PMID:17084711|REF_RGD_ID:1601248
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9006815	Otorhinolaryngologic Neoplasms	severity	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		mRNA:decreased expression:pharynx,larynx (human)	PMID:21127011|REF_RGD_ID:150340703
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24451234|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28188106|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31719806|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32125938|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32810930|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32918381|PMID:32958592|PMID:32986223|PMID:33011440|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34262154|PMID:34299313|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21270786|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25974703|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28590052|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34755017|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35710434|PMID:35716007|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36167400|PMID:36200007|PMID:36551643|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32012241|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33239428|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35710434|PMID:35716007|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36551643|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32012241
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33239428|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35710434|PMID:35716007|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36551643|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37149759|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34680501|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30836094|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36000185|PMID:36029002|PMID:36035419|PMID:36091166
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37438524|PMID:37445923|PMID:37453313|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25741916|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29485843|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30836094|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34873480|PMID:34884835|PMID:34917121|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25677497|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30836094|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34917121|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35599270|PMID:35652560
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37091313|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:37712079|PMID:38003901|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11298136|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12362033|PMID:12473594|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:133608|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15196260|PMID:15280931|PMID:15390180|PMID:15643608|PMID:15756685|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16266405|PMID:16380133|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16941484|PMID:16998505|PMID:17000706|PMID:17023046|PMID:17124347|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17670065|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:1953577|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19773425|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22071889|PMID:22213089|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22763152|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23125224|PMID:23211698|PMID:23242139|PMID:23272087|PMID:23322442|PMID:23360865|PMID:23454770|PMID:23509889|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23667852|PMID:23726790|PMID:23807571|PMID:23810757|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24204193|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24763289|PMID:24834793|PMID:24886963|PMID:2491181|PMID:24935205|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25085752|PMID:25122203|PMID:25148578|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25318351|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25882375|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26098866|PMID:26123645|PMID:26164066|PMID:26181193|PMID:26207792|PMID:26247737|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26580448|PMID:26619011|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26911350|PMID:26917275|PMID:26976419|PMID:27034805|PMID:27067391|PMID:27083775|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27616075|PMID:27664052|PMID:27779110|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27989354|PMID:28054583|PMID:28123174|PMID:28135048|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28282032|PMID:28423702|PMID:28451460|PMID:28492532|PMID:28497333|PMID:28528518|PMID:28569743
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28580595|PMID:28591191|PMID:28598434|PMID:28640387|PMID:28652578|PMID:28687971|PMID:28714976|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29025590|PMID:29053726|PMID:29059438|PMID:29101607|PMID:29144541|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29684080|PMID:29700634|PMID:29754934|PMID:29758562|PMID:29895855|PMID:29906526|PMID:29945567|PMID:29961768|PMID:30062048|PMID:30067863|PMID:30093976|PMID:30104763|PMID:30124550|PMID:30256826|PMID:30262796|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30363071|PMID:30374176|PMID:30425284|PMID:30426508|PMID:30541756|PMID:30549301|PMID:30563988|PMID:30579816|PMID:30613976|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30814645|PMID:30883245|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31403082|PMID:31415627|PMID:31422574|PMID:31429931|PMID:31432501|PMID:31465090|PMID:31497750|PMID:31611883|PMID:31642931|PMID:31658756|PMID:31719806|PMID:31729406|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31970404|PMID:32005694|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32255556|PMID:32300177|PMID:32325837|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32606146|PMID:32658311|PMID:32710489|PMID:32756499|PMID:32761968|PMID:3280694|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32866655|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32957588|PMID:32962506|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33012025|PMID:33083949|PMID:33095795|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33176972|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33415580|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33940787|PMID:34008015|PMID:34196900|PMID:34200508|PMID:34204722|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34399810|PMID:34433815|PMID:34488871|PMID:34539671|PMID:34573280|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34686943|PMID:34754157|PMID:34791078|PMID:34917121|PMID:34994613|PMID:35008949|PMID:35047863|PMID:35078243|PMID:35095854|PMID:35098669|PMID:35101336|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35171529|PMID:35218119|PMID:35245693|PMID:35264596|PMID:35402282|PMID:35441217|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35666082|PMID:35716007|PMID:3574400|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35980532|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36099812|PMID:36117189|PMID:36135357|PMID:36167400|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36346689|PMID:36547062|PMID:36627197|PMID:36672847|PMID:36898365|PMID:36964972|PMID:36966138|PMID:36988593|PMID:37075885|PMID:37097610|PMID:37232349|PMID:37436117|PMID:37438524|PMID:37712079|PMID:37773632|PMID:38002934|PMID:38003901|PMID:38028594|PMID:38091153|PMID:38136308|PMID:38153744|PMID:38374194|PMID:38439815|PMID:38489015|PMID:38522067|PMID:38781545|PMID:38843839|PMID:38874686|PMID:38917355|PMID:39052144|PMID:39226054|PMID:39272813|PMID:39427061|PMID:39521281|PMID:39541563|PMID:39590369|PMID:40580951|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8797579|PMID:8808599|PMID:8845835|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9792409|PMID:9872980
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		protein:decreased expression:muscle:	PMID:18534819|REF_RGD_ID:8693659
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:1606040	D	RGD:9068941	20210416	RGD		Associated with human immunodeficiency virus infectious disease, hepatitis C;DNA:SNP:intron: (rs11212617) (human)	PMID:23171036|REF_RGD_ID:126781688
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9007722	Myoclonus		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:11889466|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:25741868|PMID:28492532|PMID:31611883|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:1606040	D	RGD:9068941	20210430	RGD		associated with gastritis;mRNA:increased expression:mucosa of stomach (human)	PMID:25069978|REF_RGD_ID:126790566
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:1606040	D	RGD:9068941	20210430	RGD		associated with stomach cancer;mRNA:increased expression:stomach (human)	PMID:29128564|REF_RGD_ID:126790563
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:11889466|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:25741868|PMID:28492532|PMID:31611883|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9008603	Rhabdoviridae Infections	ameliorates	ISO	RGD:10199	D	RGD:9068941	20210430	RGD			PMID:25692705|REF_RGD_ID:126790565
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9008604	Radiation Pneumonitis	susceptibility	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		associated with lung cancer;DNA:SNPs:promoter:���111G>A,126713G>A  (rs189037, s373759) (human)	PMID:20171797|REF_RGD_ID:150340755
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1606040	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm	PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12072552|PMID:12195425|PMID:12552559|PMID:12969974|PMID:14562025|PMID:16652348|PMID:16832357|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:20301790|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22585167|PMID:22649200|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:29958926|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32427313|PMID:32748564|PMID:32853339|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:34117267|PMID:36094610|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9537233|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24584352|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25249249|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29866652|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30104763|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30550363|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32039725
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32508039|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32720237|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32999401|PMID:33003326|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:33365035|PMID:33376610|PMID:33383211|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33429865|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33608381|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33916788|PMID:33919281|PMID:33939675|PMID:33940787|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34489640|PMID:34539671|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34791078|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34917121|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145272|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35218119|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260348|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35304488|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35441217|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35599270|PMID:35626031|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35777164|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36018153|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36155879|PMID:36167400|PMID:36179682|PMID:36200007
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36387226|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36717774|PMID:36781323|PMID:36845387|PMID:36898365|PMID:36979741|PMID:36980780|PMID:36988593|PMID:37013556|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37345735|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37536918|PMID:37581139|PMID:37591896|PMID:37628581|PMID:37712079|PMID:37762649|PMID:37833309|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38355628|PMID:38489015|PMID:38509102|PMID:38520597|PMID:38854973|PMID:38874686|PMID:39085400|PMID:39256447|PMID:4012663|PMID:581456|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10571946|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17632790|PMID:17640065|PMID:17699107|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24584352|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25249249|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29866652|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30104763|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30550363|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32366930|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32508039|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32720237|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32999401|PMID:33003326|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:33365035|PMID:33376610|PMID:33383211|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33429865|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33525650|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33608381|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33758026|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33916788|PMID:33919281|PMID:33939675|PMID:33940787|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34489640|PMID:34539671|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34791078|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34917121|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145272|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35218119|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260348|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35304488|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35441217|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35586824|PMID:35599270|PMID:35626031|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35777164|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:35982159|PMID:36000185|PMID:36003761|PMID:36008414|PMID:36018153|PMID:36029002|PMID:36035419
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:36091166|PMID:36094610|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36155879|PMID:36167400|PMID:36179682|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:36346689|PMID:3638722|PMID:36387226|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36717774|PMID:36744932|PMID:36781323|PMID:36845387|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36979741|PMID:36980780|PMID:36983044|PMID:36988593|PMID:37013556|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37201465|PMID:37232349|PMID:37239058|PMID:37262986|PMID:37306523|PMID:37323311|PMID:37331604|PMID:37345735|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37536918|PMID:37581139|PMID:37591896|PMID:37628581|PMID:37712079|PMID:37762649|PMID:37833309|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38355628|PMID:38489015|PMID:38496821|PMID:38509102|PMID:38520597|PMID:38570878|PMID:38697030|PMID:38854973|PMID:38874686|PMID:39085400|PMID:39138584|PMID:39226054|PMID:39256447|PMID:39825153|PMID:4012663|PMID:581456|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial Breast cancer | ClinVar Annotator: match by term: Familial cancer of breast	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11298136|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12149228|PMID:12362033|PMID:12473594|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935933|PMID:133608|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15196260|PMID:15280931|PMID:15643608|PMID:15756685|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16941484|PMID:16998505|PMID:17000706|PMID:17023046|PMID:17124347|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17670065|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19773425|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22763152|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23125224|PMID:23242139|PMID:23272087|PMID:23322442|PMID:23360865|PMID:23454770|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23726790|PMID:23807571|PMID:23810757|PMID:23960188|PMID:24033266|PMID:24142997|PMID:24172824|PMID:24204193|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:2491181|PMID:24935205|PMID:25085752|PMID:25122203|PMID:25148578|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25318351|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25882375|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26098866|PMID:26123645|PMID:26164066|PMID:26181193|PMID:26207792|PMID:26247737|PMID:26317927|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26911350|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27460089|PMID:27479817|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27664052|PMID:27779110|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27989354|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28282032|PMID:28451460|PMID:28492532|PMID:28497333|PMID:28528518|PMID:28569743|PMID:28580595|PMID:28598434|PMID:28640387|PMID:28652578|PMID:28714976|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:29053726|PMID:29059438|PMID:29101607|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29667044
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial Breast cancer | ClinVar Annotator: match by term: Familial cancer of breast	PMID:29684080|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30104763|PMID:30256826|PMID:30262796|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30425284|PMID:30426508|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30625039|PMID:30639167|PMID:30666157|PMID:30814645|PMID:30883245|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31403082|PMID:31415627|PMID:31422574|PMID:31429931|PMID:31432501|PMID:31497750|PMID:31611883|PMID:31658756|PMID:31719806|PMID:31729406|PMID:31742824|PMID:31780696|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31970404|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32300177|PMID:32325837|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32658311|PMID:32756499|PMID:3280694|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32962506|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33083949|PMID:33095795|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33176972|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33415580|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33552952|PMID:33646313|PMID:33747920|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33940787|PMID:34008015|PMID:34200508|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34399810|PMID:34488871|PMID:34539671|PMID:34573280|PMID:34646395|PMID:34686943|PMID:34791078|PMID:34994613|PMID:35008949|PMID:35047863|PMID:35078243|PMID:35098669|PMID:35101336|PMID:35171259|PMID:35171529|PMID:35218119|PMID:35260754|PMID:35264596|PMID:35402282|PMID:35441217|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35666082|PMID:35716007|PMID:3574400|PMID:35980532|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36099812|PMID:36117189|PMID:36135357|PMID:36167400|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36346689|PMID:36547062|PMID:36627197|PMID:36898365|PMID:36966138|PMID:36988593|PMID:37097610|PMID:37232349|PMID:37436117|PMID:37438524|PMID:37712079|PMID:37773632|PMID:38002934|PMID:38003901|PMID:38091153|PMID:38136308|PMID:38153744|PMID:38489015|PMID:38522067|PMID:38781545|PMID:38843839|PMID:39226054|PMID:39272813|PMID:39427061|PMID:39521281|PMID:39590369|PMID:40580951|PMID:8659541|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9450906|PMID:9452093|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9009054	Colorectal Cancer 10		ISO	RGD:1606040	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer type X	PMID:11443540|PMID:16199547|PMID:19404735|PMID:19781682|PMID:21933854|PMID:23242139|PMID:23555315|PMID:23807571|PMID:25085752|PMID:25186627|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:27720647|PMID:28492532|PMID:28652578|PMID:28779002|PMID:29665859|PMID:29684080|PMID:29945567|PMID:30287823|PMID:31206626|PMID:31871109|PMID:31920950|PMID:32068069|PMID:33280026|PMID:33471991|PMID:33552952|PMID:33804961|PMID:34262154|PMID:34284872|PMID:34326862|PMID:36243179|PMID:36315919|PMID:36898365|PMID:38874686|PMID:40580951
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9009054	Colorectal Cancer 10		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 10 | ClinVar Annotator: match by term: Familial colorectal cancer type X	PMID:11443540|PMID:11897822|PMID:16199547|PMID:19404735|PMID:19781682|PMID:21933854|PMID:23242139|PMID:23555315|PMID:23807571|PMID:25085752|PMID:25186627|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26689913|PMID:26898890|PMID:28492532|PMID:28652578|PMID:28779002|PMID:29665859|PMID:29684080|PMID:29945567|PMID:30287823|PMID:31206626|PMID:31871109|PMID:31920950|PMID:32068069|PMID:33280026|PMID:33471991|PMID:33552952|PMID:33804961|PMID:34262154|PMID:34284872|PMID:34326862|PMID:35402282|PMID:36243179|PMID:36315919|PMID:36898365|PMID:38136308|PMID:38874686|PMID:40580951
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:11849780|PMID:17124347|PMID:17517479|PMID:20077034|PMID:25741868|PMID:26467025|PMID:26635394|PMID:28492532|PMID:36315513|PMID:36547062|PMID:40580951|PMID:9887333
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine	PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:11505391|PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:14754616|PMID:16652348|PMID:17393301|PMID:17490827|PMID:19431188|PMID:20305132|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27568332|PMID:28054583|PMID:28492532|PMID:28652578|PMID:28767289|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:35047863|PMID:35264596|PMID:36315919|PMID:38002934|PMID:8797579|PMID:9463314|PMID:9892178
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1606040	D	RGD:9068941	20210430	RGD			PMID:16533773|REF_RGD_ID:126790575
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		DNA:mutations	PMID:30814645|REF_RGD_ID:150340714
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1606040	D	RGD:9068941	20210409	RGD		protein:decreased expression:epithelium of nasopharynx (human)	PMID:29230817|REF_RGD_ID:126779560
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1606040	D	RGD:9068941	20210430	RGD		associated with Epstein-Barr Virus Infections;mRNA:decreased expression:nasopharyngeal tissue (human)	PMID:19142888|REF_RGD_ID:126790562
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9261	nasopharynx carcinoma	treatment	ISO	RGD:1606040	D	RGD:9068941	20210827	RGD			PMID:28820634|REF_RGD_ID:150340692
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9538	multiple myeloma		ISO	RGD:1606040	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9655	oral mucosa leukoplakia		ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		protein:increased expression:mucosa of oral region (human)	PMID:18288488|REF_RGD_ID:150340709
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9655	oral mucosa leukoplakia	severity	ISO	RGD:1606040	D	RGD:9068941	20210820	RGD		protein:increased expression:mucosa of oral region (human)	PMID:29928356|REF_RGD_ID:150340604
8708960	Atm	ATM serine/threonine kinase	gene	DOID:9669	senile cataract	susceptibility	ISO	RGD:1606040	D	RGD:9068941	20210430	RGD		DNA:SNP:3' UTR: (rs4585) (human)	PMID:29156695|REF_RGD_ID:126790564
8709027	Smox	spermine oxidase	gene	DOID:0051061	stroke		ISO	RGD:1314443	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16269634
8709027	Smox	spermine oxidase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8709027	Smox	spermine oxidase	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1314443	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30576531
8709027	Smox	spermine oxidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709027	Smox	spermine oxidase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8709027	Smox	spermine oxidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8709027	Smox	spermine oxidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8709056	Pheta1	PH domain containing endocytic trafficking adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709056	Pheta1	PH domain containing endocytic trafficking adaptor 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1602835	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
8709063	Hdac11	histone deacetylase 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8709063	Hdac11	histone deacetylase 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8709063	Hdac11	histone deacetylase 11	gene	DOID:10534	stomach cancer		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8709063	Hdac11	histone deacetylase 11	gene	DOID:1115	sarcoma		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8709063	Hdac11	histone deacetylase 11	gene	DOID:1909	melanoma		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8709063	Hdac11	histone deacetylase 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8709063	Hdac11	histone deacetylase 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8709063	Hdac11	histone deacetylase 11	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8709063	Hdac11	histone deacetylase 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8709084	S100a9	S100 calcium binding protein A9	gene	DOID:10608	celiac disease		ISO	RGD:1352981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
8709084	S100a9	S100 calcium binding protein A9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352981	D	RGD:9068941	20200609	RGD		mRNA:increased expression:urinary bladder	PMID:17970044|REF_RGD_ID:2316906
8709084	S100a9	S100 calcium binding protein A9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:620267	D	RGD:9068941	20200609	RGD		mRNA:increased expression:urinary bladder	PMID:17970044|REF_RGD_ID:2316906
8709084	S100a9	S100 calcium binding protein A9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733175	D	RGD:9068941	20200609	RGD		mRNA:increased expression:urinary bladder	PMID:17970044|REF_RGD_ID:2316906
8709084	S100a9	S100 calcium binding protein A9	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1352981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
8709084	S100a9	S100 calcium binding protein A9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709084	S100a9	S100 calcium binding protein A9	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1352981	D	RGD:9068941	20220901	RGD		mRNA:increased expression:liver (human)	PMID:35693827|REF_RGD_ID:153344586
8709084	S100a9	S100 calcium binding protein A9	gene	DOID:820	myocarditis		ISO	RGD:1352981	D	RGD:9068941	20200609	RGD			PMID:19151078|REF_RGD_ID:2316903
8709084	S100a9	S100 calcium binding protein A9	gene	DOID:9000058	Keloid		ISO	RGD:1352981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
8709084	S100a9	S100 calcium binding protein A9	gene	DOID:9000955	Acute Otitis Media		IEP		D	RGD:11553828|PMID:26711468	20161013	RGD		mRNA, protein:increased expression:mucosa of middle ear	
8709084	S100a9	S100 calcium binding protein A9	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1352981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8709084	S100a9	S100 calcium binding protein A9	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:620267	D	RGD:9068941	20200609	RGD			PMID:8343166|REF_RGD_ID:633930
8709084	S100a9	S100 calcium binding protein A9	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1352981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
8709129	Wdr89	WD repeat domain 89	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8709129	Wdr89	WD repeat domain 89	gene	DOID:1324	lung cancer		ISO	RGD:1316567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8709129	Wdr89	WD repeat domain 89	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:27693232
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1312315	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: syndromic intellectual disability	PMID:25741868|PMID:28492532
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312315	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:0060260	ptosis		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:27693232
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:10908	hydrocephalus		ISO	RGD:1312315	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe hydrocephalus	PMID:25741868
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312315	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24121791
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:1115	sarcoma		ISO	RGD:1312315	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:27693232
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:12849	autistic disorder		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:27693232
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:1324	lung cancer		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:2018	hyperinsulinism		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperinsulinemia	PMID:27693232
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:255	hemangioma		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glabellar hemangioma	PMID:27693232
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:2725	capillary hemangioma		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Capillary hemangioma	PMID:27693232
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prolonged QT interval	PMID:27693232
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:4481	allergic rhinitis		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	PMID:27693232
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312315	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:630	genetic disease		ISO	RGD:1312315	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:27693232
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus flammeus	PMID:27693232
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:27693232
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:27693232
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9003591	Telecanthus		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:27693232
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9003728	Shashi-Pena Syndrome		ISO	RGD:1312315	D	RGD:7240710	20190315	OMIM			
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9003728	Shashi-Pena Syndrome		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ASXL2-related condition | ClinVar Annotator: match by term: SHASHI-PENA SYNDROME | ClinVar Annotator: match by term: Shashi-Pena syndrome	PMID:25741868|PMID:27693232|PMID:28492532|PMID:28516957|PMID:30251205|PMID:35101336
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:27693232
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:27693232
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:27693232
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insulin resistance	PMID:27693232
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9008582	Developmental Disease		ISO	RGD:1312315	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9452	steatotic liver disease		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:27693232
8709157	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9970	obesity		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:27693232
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:732989	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28067908
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:0070615	autoinflammation, antibody deficiency, and immune dysregulation syndrome		ISO	RGD:732989	D	RGD:7240710	20180130	OMIM			
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:0070615	autoinflammation, antibody deficiency, and immune dysregulation syndrome		ISO	RGD:732989	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation syndrome | ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | ClinVar Annotator: match by term: PLCG2-related disorder	PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29921932|PMID:32894242|PMID:33936634|PMID:37769878|PMID:9536098
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:0090064	familial cold autoinflammatory syndrome 3		ISO	RGD:732989	D	RGD:7240710	20180130	OMIM			
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:0090064	familial cold autoinflammatory syndrome 3		ISO	RGD:732989	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3	PMID:16199547|PMID:17576681|PMID:24033266|PMID:25640679|PMID:25741868|PMID:27577878|PMID:28492532|PMID:29590070|PMID:29921932|PMID:30273710|PMID:30344948|PMID:31853824|PMID:32047491|PMID:32185379|PMID:32671674|PMID:32894242|PMID:33859323|PMID:33936634|PMID:34329649|PMID:35753512|PMID:37094224|PMID:37714437|PMID:37769878|PMID:38790019|PMID:39369972|PMID:9536098
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:10534	stomach cancer		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732989	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28714976
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:11830	myopia		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:1210	optic neuritis		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic neuritis	PMID:25741868
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:1287	cardiovascular system disease		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:1324	lung cancer		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:1389	polyneuropathy		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:1596	depressive disorder		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:2030	anxiety disorder		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:2841	asthma		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma | ClinVar Annotator: match by term: asthma	PMID:25741868|PMID:28492532|PMID:29590070|PMID:32894242|PMID:33936634
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:4362	cervical cancer		ISO	RGD:732989	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:630	genetic disease		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:37769878
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732989	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:732989	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:27542411
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:732989	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	PMID:25741868
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25741868
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:9008173	Paraparesis		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paraparesis	PMID:25741868
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:9008305	Talipes Cavus		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:9008464	Cryopyrin-Associated Periodic Syndromes		ISO	RGD:732989	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome	PMID:16199547|PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29921932|PMID:30619256
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634
8709179	Plcg2	phospholipase C gamma 2	gene	DOID:9970	obesity		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634
8709218	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8709218	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:0061051	immunodeficiency 80		ISO	RGD:1322725	D	RGD:7240710	20210526	OMIM			
8709218	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:0061051	immunodeficiency 80		ISO	RGD:1322725	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 80 with or without congenital cardiomyopathy	PMID:25741868
8709218	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:0080600	COVID-19		ISO	RGD:1322725	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8709218	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:10534	stomach cancer		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8709218	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:1115	sarcoma		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8709218	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:1324	lung cancer		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8709218	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:3070	high grade glioma		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8709218	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:3275	thymoma		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8709218	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:4362	cervical cancer		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8709218	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1322725	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8709218	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709218	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8709218	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8709218	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8709218	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8709255	Trim65	tripartite motif containing 65	gene	DOID:10534	stomach cancer		ISO	RGD:1352380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8709255	Trim65	tripartite motif containing 65	gene	DOID:1115	sarcoma		ISO	RGD:1352380	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8709255	Trim65	tripartite motif containing 65	gene	DOID:1909	melanoma		ISO	RGD:1352380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8709255	Trim65	tripartite motif containing 65	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709255	Trim65	tripartite motif containing 65	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8709267	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8709267	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8709267	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8709267	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:1115	sarcoma		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8709267	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:1307	dementia		ISO	RGD:1359099	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus	PMID:20545768|REF_RGD_ID:9685031
8709267	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:305	carcinoma		ISO	RGD:1347618	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8709267	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:3275	thymoma		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8709267	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8709267	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709267	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8709267	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1359099	D	RGD:9068941	20200609	RGD		protein:decreased expression:spinal cord	PMID:20141154|REF_RGD_ID:9685028
8709267	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1347618	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8709267	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1347618	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
8709267	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1347618	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8709267	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8709267	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8709267	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8709291	Pola2	DNA polymerase alpha 2, accessory subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8709291	Pola2	DNA polymerase alpha 2, accessory subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8709291	Pola2	DNA polymerase alpha 2, accessory subunit	gene	DOID:0060058	lymphoma		ISO	RGD:731623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8709291	Pola2	DNA polymerase alpha 2, accessory subunit	gene	DOID:0061213	telomere biology disorder		ISO	RGD:731623	D	RGD:8554872	20251104	ClinVar		ClinVar Annotator: match by term: Telomere Biology Disorder	PMID:25741868
8709291	Pola2	DNA polymerase alpha 2, accessory subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8709291	Pola2	DNA polymerase alpha 2, accessory subunit	gene	DOID:1115	sarcoma		ISO	RGD:731623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8709291	Pola2	DNA polymerase alpha 2, accessory subunit	gene	DOID:1324	lung cancer		ISO	RGD:731623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8709291	Pola2	DNA polymerase alpha 2, accessory subunit	gene	DOID:4362	cervical cancer		ISO	RGD:731623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8709291	Pola2	DNA polymerase alpha 2, accessory subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:731623	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8709291	Pola2	DNA polymerase alpha 2, accessory subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709291	Pola2	DNA polymerase alpha 2, accessory subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8709291	Pola2	DNA polymerase alpha 2, accessory subunit	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:731623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8709291	Pola2	DNA polymerase alpha 2, accessory subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8709322	Kitlg	KIT ligand	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8709322	Kitlg	KIT ligand	gene	DOID:0110590	autosomal dominant nonsyndromic deafness 69		ISO	RGD:737118	D	RGD:7240710	20180130	OMIM			
8709322	Kitlg	KIT ligand	gene	DOID:0110590	autosomal dominant nonsyndromic deafness 69		ISO	RGD:737118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 69 | ClinVar Annotator: match by term: Deafness, autosomal dominant 69, unilateral or asymmetric	PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33229591
8709322	Kitlg	KIT ligand	gene	DOID:0111373	familial progressive hyperpigmentation with or without hypopigmentation		ISO	RGD:737118	D	RGD:7240710	20180130	OMIM			
8709322	Kitlg	KIT ligand	gene	DOID:0111373	familial progressive hyperpigmentation with or without hypopigmentation		ISO	RGD:737118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE | ClinVar Annotator: match by term: Hyperpigmentation with or without hypopigmentation, familial progressive | ClinVar Annotator: match by term: MELANOSIS UNIVERSALIS HEREDITARIA	PMID:24033266|PMID:25741868|PMID:28492532
8709322	Kitlg	KIT ligand	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:737118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital sensorineural hearing impairment	
8709322	Kitlg	KIT ligand	gene	DOID:12365	malaria		ISO	RGD:737118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Malaria, susceptibility to	
8709322	Kitlg	KIT ligand	gene	DOID:1324	lung cancer		ISO	RGD:737118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8709322	Kitlg	KIT ligand	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:12410173	D	RGD:9068941	20240725	OMIA		Squamous cell carcinoma of the digit	PMID:1399782|PMID:16231717|PMID:17609360|PMID:23555311|PMID:24936030|PMID:26699508|PMID:2800263|PMID:36851392|PMID:36851451|PMID:38785565|PMID:6354679|PMID:6731733|PMID:7657570
8709322	Kitlg	KIT ligand	gene	DOID:1909	melanoma		ISO	RGD:737118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8709322	Kitlg	KIT ligand	gene	DOID:305	carcinoma		ISO	RGD:737118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8709322	Kitlg	KIT ligand	gene	DOID:3275	thymoma		ISO	RGD:737118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8709322	Kitlg	KIT ligand	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:737118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24979617
8709322	Kitlg	KIT ligand	gene	DOID:3663	cutaneous mastocytosis		ISO	RGD:737119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20559008
8709322	Kitlg	KIT ligand	gene	DOID:4362	cervical cancer		ISO	RGD:737118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8709322	Kitlg	KIT ligand	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709322	Kitlg	KIT ligand	gene	DOID:630	genetic disease		ISO	RGD:737118	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8709322	Kitlg	KIT ligand	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:737118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8709322	Kitlg	KIT ligand	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:737118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19483681|PMID:19483682
8709322	Kitlg	KIT ligand	gene	DOID:9000750	Waardenburg Syndrome Type 2F		ISO	RGD:737118	D	RGD:7240710	20220720	OMIM			
8709322	Kitlg	KIT ligand	gene	DOID:9000750	Waardenburg Syndrome Type 2F		ISO	RGD:737118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: WAARDENBURG SYNDROME, TYPE 2F	
8709322	Kitlg	KIT ligand	gene	DOID:9001472	Nasal Polyps		ISO	RGD:737118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15813808
8709322	Kitlg	KIT ligand	gene	DOID:9001581	Constipation		ISO	RGD:3086	D	RGD:9068941	20220505	RGD		mRNA, protein:decreased expression:colon	PMID:33792838|REF_RGD_ID:152025536
8709322	Kitlg	KIT ligand	gene	DOID:9002566	Gastric Reperfusion Injury		ISO	RGD:3086	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:stomach:	PMID:20040059|REF_RGD_ID:12911222
8709322	Kitlg	KIT ligand	gene	DOID:9004207	Testicular Neoplasms		ISO	RGD:737118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19483681|PMID:19483682
8709322	Kitlg	KIT ligand	gene	DOID:9004538	Hearing Loss		ISO	RGD:737118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8709322	Kitlg	KIT ligand	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:737118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8709322	Kitlg	KIT ligand	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:737118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:1720698
8709322	Kitlg	KIT ligand	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:737118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8709322	Kitlg	KIT ligand	gene	DOID:9007207	Skin/Hair/Eye Pigmentation, Variation In, 7		ISO	RGD:737118	D	RGD:7240710	20221207	OMIM			
8709322	Kitlg	KIT ligand	gene	DOID:9007207	Skin/Hair/Eye Pigmentation, Variation In, 7		ISO	RGD:737118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 7, BLOND/BROWN HAIR | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 7	PMID:24033266|PMID:25741868|PMID:28492532
8709322	Kitlg	KIT ligand	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:737119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12594235
8709322	Kitlg	KIT ligand	gene	DOID:9007495	Hereditary Congenital Hypopigmented and Hyperpigmented Macules		ISO	RGD:737118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypomelanotic and hypermelanotic macules	PMID:24033266|PMID:25741868|PMID:28492532
8709322	Kitlg	KIT ligand	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8709322	Kitlg	KIT ligand	gene	DOID:9970	obesity		ISO	RGD:737119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23954404
8709367	Alx3	ALX homeobox 3	gene	DOID:0080074	neural tube defect		ISO	RGD:1352384	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	PMID:20534379
8709367	Alx3	ALX homeobox 3	gene	DOID:0081044	frontonasal dysplasia		ISO	RGD:1352384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Frontorhiny	PMID:25741868
8709367	Alx3	ALX homeobox 3	gene	DOID:0081045	frontonasal dysplasia 1		ISO	RGD:1352384	D	RGD:7240710	20180130	OMIM			
8709367	Alx3	ALX homeobox 3	gene	DOID:0081045	frontonasal dysplasia 1		ISO	RGD:1352384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALX3-related condition | ClinVar Annotator: match by term: FRONTONASAL DYSPLASIA 1	PMID:19409524|PMID:28492532
8709367	Alx3	ALX homeobox 3	gene	DOID:1324	lung cancer		ISO	RGD:1352384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8709367	Alx3	ALX homeobox 3	gene	DOID:1909	melanoma		ISO	RGD:1352384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8709367	Alx3	ALX homeobox 3	gene	DOID:630	genetic disease		ISO	RGD:1352384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8709375	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8709375	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8709375	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8709375	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1314333	D	RGD:9068941	20200609	RGD			PMID:18385101|REF_RGD_ID:9588655
8709375	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8709375	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1314332	D	RGD:9068941	20200609	RGD		DNA:snp::c.1221+135T>A (rs140689) (human)	PMID:18668384|REF_RGD_ID:9588657
8709375	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1314332	D	RGD:9068941	20200609	RGD		DNA:snps, deletion:promoter, cds:g.-634G>A, g.-501delT, p.P401A (human)	PMID:16284366|REF_RGD_ID:9588651
8709375	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:1909	melanoma		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8709375	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1305980	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus	PMID:12421618|REF_RGD_ID:9587846
8709375	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8709375	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8709375	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:3275	thymoma		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8709375	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8709375	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314332	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8709375	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8709375	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709375	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314332	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
8709375	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8709375	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8709375	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:9007090	Experimental Seizures		ISO	RGD:1305980	D	RGD:9068941	20241214	RGD		mRNA:increased expression:dentate gyrus	PMID:12123686|REF_RGD_ID:9587847
8709375	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8709424	Crct1	cysteine rich C-terminal 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:24033266|PMID:25637381|PMID:25741868|PMID:26251183|PMID:26467025|PMID:26845104|PMID:28195393|PMID:28492532|PMID:29120461|PMID:29641532|PMID:30267214|PMID:30917185|PMID:35534704
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:1348983	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:20951805|PMID:21157497|PMID:22980975|PMID:23636398|PMID:24033266|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25529843|PMID:25559809|PMID:25642631|PMID:25741868|PMID:25860647|PMID:26467025|PMID:26822575|PMID:28427513|PMID:28492532|PMID:29120461|PMID:29754823|PMID:29987844|PMID:30194485|PMID:30503519|PMID:32424176|PMID:32792570|PMID:35108036
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:1348983	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:20951805|PMID:21157497|PMID:22980975|PMID:23636398|PMID:24033266|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25529843|PMID:25559809|PMID:25642631|PMID:25741868|PMID:25860647|PMID:26467025|PMID:26822575|PMID:28427513|PMID:28492532|PMID:29120461|PMID:29754823|PMID:29987844|PMID:30194485|PMID:30503519|PMID:32424176|PMID:32792570|PMID:35108036|PMID:35534205
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:1348983	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:20951805|PMID:21157497|PMID:22980975|PMID:23636398|PMID:24033266|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25529843|PMID:25559809|PMID:25642631|PMID:25741868|PMID:25860647|PMID:26467025|PMID:26822575|PMID:28427513|PMID:28492532|PMID:29120461|PMID:29754823|PMID:29987844|PMID:30194485|PMID:30503519|PMID:32424176|PMID:32792570|PMID:35108036|PMID:35534205|PMID:35534704
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:1348983	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:16699561|PMID:20951805|PMID:21157497|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23636398|PMID:24033266|PMID:24501277|PMID:24525744|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25370038|PMID:25529843|PMID:25559809|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25948378|PMID:25986922|PMID:26251183|PMID:26467025|PMID:26493165|PMID:26748215|PMID:26822575|PMID:26845104|PMID:27683556|PMID:28202063|PMID:28427513|PMID:28492532|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29754823|PMID:29987844|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30362666|PMID:30374176|PMID:30503519|PMID:30665374|PMID:30827058|PMID:31160353|PMID:31308508|PMID:31360874|PMID:31480372|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32792570|PMID:32984025|PMID:34326862|PMID:34749799|PMID:35108036|PMID:35264596|PMID:35534205|PMID:35534704|PMID:35624529|PMID:37460928
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis | ClinVar Annotator: match by term: classic or attenuated familial adenomatous polyposis	PMID:20951805|PMID:22980975|PMID:23230001|PMID:23447401|PMID:24033266|PMID:25224212|PMID:25741868|PMID:25948378|PMID:26467025|PMID:28427513|PMID:28492532|PMID:28873162|PMID:29056344|PMID:29212164|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30503519|PMID:30665374|PMID:32792570|PMID:32984025|PMID:34326862|PMID:35534704|PMID:37460928|PMID:37848928
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:1348983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:20951805|PMID:23230001|PMID:23447401|PMID:24033266|PMID:25224212|PMID:25741868|PMID:25948378|PMID:26467025|PMID:28492532|PMID:28873162|PMID:29056344|PMID:29212164|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30503519|PMID:30665374|PMID:32792570|PMID:34326862|PMID:35534704|PMID:37460928|PMID:37848928|PMID:39256447
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:20951805|PMID:23230001|PMID:25224212|PMID:25741868|PMID:25948378|PMID:26467025|PMID:28492532|PMID:30503519|PMID:37848928
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal carcinoma	PMID:25224212|PMID:25529843|PMID:26822575|PMID:28117753|PMID:28423643|PMID:28492532|PMID:28776572|PMID:29120461|PMID:29301327|PMID:30503519|PMID:30608896|PMID:32424176
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:1348983	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27-altered	PMID:25741868|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:25642631|PMID:25740784|PMID:27993330|PMID:28912153|PMID:29056344|PMID:29763623|PMID:33355208|PMID:36856825|PMID:38219146
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:0112182	mismatch repair cancer syndrome		ISO	RGD:1348983	D	RGD:9068941	20220721	RGD		DNA:SNP:CDS:rs4077170 (human)	PMID:28218421|REF_RGD_ID:153297765
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:10283	prostate cancer		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:26467025|PMID:26845104|PMID:27720647|PMID:28492532|PMID:31866764|PMID:32546565|PMID:32567205
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:26467025|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:16199547|PMID:23230001|PMID:25741868|PMID:25948378|PMID:28492532|PMID:30503519
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:1115	sarcoma		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:26467025|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:11830	myopia		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:24033266|PMID:25741868|PMID:26467025|PMID:27701467|PMID:28492532|PMID:30267214|PMID:35534704
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:12849	autistic disorder		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:24033266|PMID:25741868|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:26467025|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:1324	lung cancer		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:26467025|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:1324	lung cancer	severity	ISO	RGD:1348983	D	RGD:9068941	20220224	RGD		DNA:missense mutation:CDS:p.A252V (human)	PMID:17855454|REF_RGD_ID:11567235
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:1380	endometrial cancer	ameliorates	ISO	RGD:1348983	D	RGD:9068941	20220204	RGD		DNA:missense mutations:CDS:p.P286R, p.V411L (human)	PMID:29659608|REF_RGD_ID:151347857
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:1380	endometrial cancer	ameliorates	ISO	RGD:1348983	D	RGD:9068941	20220204	RGD		DNA:missense mutations:multiple (human)	PMID:29559562|REF_RGD_ID:151347650
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:1380	endometrial cancer	disease_progression	ISO	RGD:1348983	D	RGD:9068941	20220204	RGD		protein:increased expression:endometrium (human)	PMID:31866764|REF_RGD_ID:151347644
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:1380	endometrial cancer	onset	ISO	RGD:1348983	D	RGD:9068941	20220204	RGD		DNA:polymorphisms:multiple (human)	PMID:25224212|REF_RGD_ID:151347645
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25741868|PMID:26467025|PMID:28492532|PMID:35101336|PMID:36402816
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:1520	colon carcinoma		ISO	RGD:1348983	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma	PMID:15766587|PMID:23263490|PMID:23447401|PMID:24033266|PMID:24480973|PMID:24525744|PMID:25111073|PMID:25224212|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27244218|PMID:28125075|PMID:28492532|PMID:28873162
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:1520	colon carcinoma		ISO	RGD:1348983	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma	PMID:15766587|PMID:16199547|PMID:23230001|PMID:24033266|PMID:24480973|PMID:24525744|PMID:25637381|PMID:25741868|PMID:25948378|PMID:26467025|PMID:27244218|PMID:28125075|PMID:28492532|PMID:28873162|PMID:29987844|PMID:30503519|PMID:32792570|PMID:34347074|PMID:35264596
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:1520	colon carcinoma		ISO	RGD:1348983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:16199547|PMID:23230001|PMID:25741868|PMID:25948378|PMID:26467025|PMID:28492532|PMID:30503519
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:1596	depressive disorder		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30267214|PMID:35534704
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:1612	breast cancer		ISO	RGD:1348983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:23263490|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532|PMID:30503519|PMID:31265121|PMID:31970404|PMID:32522261|PMID:32792570|PMID:33558524
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:1909	melanoma		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:24788313|PMID:25741868|PMID:26467025|PMID:27993330|PMID:28492532|PMID:30368636|PMID:31415061|PMID:39888082
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:1984	rectal benign neoplasm		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rectal neoplasm	PMID:25741868|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:2030	anxiety disorder		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30267214|PMID:35534704
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:218	ascending colon cancer	onset	ISO	RGD:1348983	D	RGD:9068941	20220204	RGD		DNA:mutations:multiple (human)	PMID:28404093|REF_RGD_ID:151347649
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:218	ascending colon cancer	susceptibility	ISO	RGD:1348983	D	RGD:9068941	20220204	RGD		DNA:missense mutation:CDS, exon 9:p.P286R (human)	PMID:27612425|REF_RGD_ID:151347640
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:218	ascending colon cancer	susceptibility	ISO	RGD:1348983	D	RGD:9068941	20220204	RGD		DNA:mutations:multiple (human, non-Asian)	PMID:33125191|REF_RGD_ID:151347651
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:219	colon cancer		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:25741868|PMID:26467025|PMID:27701467|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:2355	anemia		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:26467025|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:2394	ovarian cancer		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer	
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:2661	myoepithelioma		ISO	RGD:1348983	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:2841	asthma		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:24033266|PMID:25637381|PMID:25741868|PMID:26251183|PMID:26467025|PMID:26845104|PMID:28195393|PMID:28492532|PMID:29120461|PMID:29641532|PMID:30267214|PMID:30917185|PMID:35534704
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1348983	D	RGD:9068941	20260521	RGD		DNA:mutations:multiple (human)	PMID:23528559|REF_RGD_ID:151347856
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:3070	high grade glioma		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pediatric high-grade glioma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:31265121|PMID:31970404|PMID:32522261|PMID:32792570
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:3087	gingivitis		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:3275	thymoma		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:26467025|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:3310	atopic dermatitis		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:3312	bipolar disorder		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30267214|PMID:35534704
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:3459	breast carcinoma		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:16199547|PMID:23230001|PMID:25741868|PMID:25948378|PMID:26467025|PMID:28492532|PMID:30503519|PMID:30665374
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:3529	congenital myopathy 1A		ISO	RGD:1348983	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Central core myopathy	PMID:24033266|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:3907	lung squamous cell carcinoma	ameliorates	ISO	RGD:1348983	D	RGD:9068941	20220204	RGD		DNA:mutations:multiple (human)	PMID:29650000|REF_RGD_ID:151347653
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:1348983	D	RGD:9068941	20220204	RGD		DNA:mutations:multiple (human)	PMID:32433714|REF_RGD_ID:151347639
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1348983	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:26467025|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:535	sleep disorder		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:17576681|PMID:28492532|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16199547|PMID:23230001|PMID:25741868|PMID:25948378|PMID:26467025|PMID:28492532|PMID:30503519
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:25741868|PMID:27701467|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:7998	hyperthyroidism		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:24033266|PMID:25741868|PMID:26467025|PMID:27701467|PMID:28492532|PMID:30267214|PMID:35534704
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:8778	Crohn's disease		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Crohn disease	PMID:25741868|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9000282	IMAGEI Syndrome		ISO	RGD:1348983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: IMAGEI SYNDROME | ClinVar Annotator: match by term: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	PMID:17576681|PMID:20091185|PMID:21129811|PMID:23230001|PMID:23263490|PMID:24033266|PMID:24525744|PMID:25124163|PMID:25741868|PMID:25948378|PMID:26467025|PMID:26763250|PMID:27153395|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28873162|PMID:28878254|PMID:29056344|PMID:29212164|PMID:29987844|PMID:30503519|PMID:30917185|PMID:31769227|PMID:32091409|PMID:32546565|PMID:32792570|PMID:32973888|PMID:33872653|PMID:34326862|PMID:35534704|PMID:36315513|PMID:37088804|PMID:37460928|PMID:39256447|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9000282	IMAGEI Syndrome	susceptibility	ISO	RGD:1348983	D	RGD:7240710	20260729	OMIM			
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:26467025|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9001733	Tinnitus		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30267214|PMID:35534704
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9003507	Premature Birth		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:24033266|PMID:25637381|PMID:25741868|PMID:26251183|PMID:26467025|PMID:26845104|PMID:28195393|PMID:28492532|PMID:29120461|PMID:29641532|PMID:30267214|PMID:30917185
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9003539	Hyperacusis		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9004265	Endometrioid Carcinomas		ISO	RGD:1348983	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Endometrioid adenocarcinoma	PMID:23263490|PMID:23447401|PMID:24525744|PMID:24844595|PMID:25224212|PMID:25228659|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9004265	Endometrioid Carcinomas	ameliorates	ISO	RGD:1348983	D	RGD:9068941	20220204	RGD		DNA:mutations:multiple (human)	PMID:29505428|REF_RGD_ID:151347648
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9004268	Uterine Neoplasms		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm of uterus	PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:20951805|PMID:25224212|PMID:25741868|PMID:26467025|PMID:28492532|PMID:37848928
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348983	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15285897|PMID:15766587|PMID:16699561|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32992294|PMID:33001133|PMID:33193653|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348983	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15285897|PMID:15766587|PMID:16699561|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32992294|PMID:33001133|PMID:33193653|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348983	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:34347074|PMID:34549727|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348983	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:34347074|PMID:34549727|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348983	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:34347074|PMID:34549727|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348983	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:34347074|PMID:34549727|PMID:35108036|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348983	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:27742654|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987015|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31265121|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31769227|PMID:31780696|PMID:31866764|PMID:31970404|PMID:32169874|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:34026601|PMID:34326862|PMID:34347074|PMID:34549727|PMID:35108036|PMID:35261896|PMID:35264596|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348983	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27379089|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27742654|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29454559|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30448219|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30877237|PMID:30917185|PMID:31034466|PMID:31160353|PMID:31265121|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31780696|PMID:31822785|PMID:31857678|PMID:31866764|PMID:31942411|PMID:31970404|PMID:32169874|PMID:32191290|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32826389|PMID:32885271|PMID:32923906|PMID:32973888|PMID:32984025|PMID:32992294|PMID:33001133|PMID:33057194|PMID:33193653|PMID:33194656|PMID:33558524|PMID:33821390|PMID:33872653|PMID:34026601|PMID:3432686|PMID:34326862|PMID:34347074|PMID:34549727|PMID:34749799|PMID:34897210|PMID:35108036|PMID:35261896|PMID:35264596|PMID:35534205|PMID:35534704|PMID:35624529|PMID:35957908|PMID:36315513|PMID:36427680|PMID:36627197|PMID:36629684|PMID:36896836|PMID:37088804|PMID:37231433|PMID:37460928|PMID:37833059|PMID:37848928|PMID:37965459|PMID:37990341|PMID:38282550|PMID:38350919|PMID:38874686|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348983	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:22493747|PMID:22810696|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25637381|PMID:25741868|PMID:25948378|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26763250|PMID:26845104|PMID:27153395|PMID:27244218|PMID:27379089|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27993330|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28427513|PMID:28492532|PMID:28724667|PMID:28857155|PMID:28873162|PMID:28878254|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29320758|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30368636|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30917185|PMID:31034466|PMID:31265121|PMID:31285513|PMID:31415061|PMID:31769227|PMID:31780696|PMID:31866764|PMID:31942411|PMID:31970404|PMID:32091409|PMID:32169874|PMID:32191290|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32984025|PMID:33001133|PMID:33057194|PMID:33777394|PMID:33821390|PMID:33872653|PMID:3432686|PMID:34326862|PMID:34897210|PMID:35101336|PMID:35264596|PMID:35534205|PMID:35534704|PMID:36315513|PMID:37088804|PMID:37460928|PMID:37833059|PMID:37848928|PMID:38874686|PMID:39269552|PMID:39888082|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21701589|PMID:22493747|PMID:22810696|PMID:23230001|PMID:23263490|PMID:23447401|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25637381|PMID:25741868|PMID:25948378|PMID:26133394|PMID:26251183|PMID:26467025|PMID:26763250|PMID:26845104|PMID:27153395|PMID:27244218|PMID:27379089|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27993330|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28427513|PMID:28492532|PMID:28724667|PMID:28873162|PMID:28878254|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29320758|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29987844|PMID:30049826|PMID:30194485|PMID:30267214|PMID:30368636|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30917185|PMID:31034466|PMID:31265121|PMID:31285513|PMID:31415061|PMID:31769227|PMID:31866764|PMID:31942411|PMID:31970404|PMID:32091409|PMID:32169874|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32973888|PMID:33001133|PMID:33057194|PMID:33777394|PMID:33821390|PMID:33872653|PMID:3432686|PMID:34326862|PMID:35101336|PMID:35264596|PMID:35534205|PMID:35534704|PMID:36315513|PMID:37088804|PMID:37460928|PMID:37833059|PMID:37848928|PMID:38874686|PMID:39256447|PMID:39269552|PMID:39888082|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9007736	Vertigo		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9007936	Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature		ISO	RGD:1348983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE | ClinVar Annotator: match by term: Facial dysmorphism, immunodeficiency, livedo, and short stature	PMID:17576681|PMID:20091185|PMID:21129811|PMID:23230001|PMID:23263490|PMID:24033266|PMID:24525744|PMID:25124163|PMID:25637381|PMID:25741868|PMID:25948378|PMID:26251183|PMID:26467025|PMID:26763250|PMID:26845104|PMID:27153395|PMID:27379089|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28873162|PMID:28878254|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29641532|PMID:29987844|PMID:30049826|PMID:30267214|PMID:30503519|PMID:30917185|PMID:31285513|PMID:31769227|PMID:31970404|PMID:32091409|PMID:32546565|PMID:32792570|PMID:32973888|PMID:33872653|PMID:34326862|PMID:35534704|PMID:36315513|PMID:37088804|PMID:37460928|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9007936	Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature	susceptibility	ISO	RGD:1348983	D	RGD:7240710	20260729	OMIM			
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9008023	Memory Disorders		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1348983	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:23263490|PMID:26053496
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1348983	D	RGD:9068941	20250116	RGD		DNA:missense mutation:CDS, exon9:p.E277G, c.830A (human)	PMID:30086056|REF_RGD_ID:151347647
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1348983	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms	PMID:24844595|PMID:26619011|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9009054	Colorectal Cancer 10		ISO	RGD:1348983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer 10 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 10 | ClinVar Annotator: match by term: Familial colorectal cancer type X	PMID:23230001|PMID:24033266|PMID:25637381|PMID:25741868|PMID:25948378|PMID:26251183|PMID:26467025|PMID:26845104|PMID:28195393|PMID:28492532|PMID:29120461|PMID:29641532|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30503519|PMID:30917185|PMID:32546565|PMID:34326862|PMID:35534205|PMID:35534704|PMID:39256447
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29641532|PMID:29755653|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31285513|PMID:31308508|PMID:31769227|PMID:31829442|PMID:32424176|PMID:32792570|PMID:32885271|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 3 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 3 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:35108036|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:35108036|PMID:35264596|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27884168|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31265121|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31866764|PMID:31970404|PMID:32169874|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:35108036|PMID:35264596|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31265121|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31866764|PMID:31970404|PMID:32169874|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:35108036|PMID:35264596|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer with chromosomal instability, somatic | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: DLC1-related condition | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27742654|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987015|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31265121|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31780696|PMID:31866764|PMID:31970404|PMID:32169874|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34026601|PMID:34326862|PMID:34347074|PMID:34549727|PMID:35108036|PMID:35261896|PMID:35264596|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27742654|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987015|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31265121|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31780696|PMID:31866764|PMID:31970404|PMID:32169874|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32826389|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:33821390|PMID:34026601|PMID:3432686|PMID:34326862|PMID:34347074|PMID:34549727|PMID:34897210|PMID:35108036|PMID:35261896|PMID:35264596|PMID:35599849|PMID:35860951|PMID:36315513|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: DLC1-related condition | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24844595|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27379089|PMID:27683556|PMID:27720647|PMID:27742654|PMID:28117753|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29641532|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31265121|PMID:31285513|PMID:31866764|PMID:31970404|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33193653|PMID:33558524|PMID:33821390|PMID:34326862|PMID:34347074|PMID:34549727|PMID:35264596|PMID:36315513|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24844595|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27379089|PMID:27683556|PMID:27720647|PMID:27742654|PMID:28117753|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28776572|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29174094|PMID:29194591|PMID:29212164|PMID:29301327|PMID:29320758|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29641532|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31265121|PMID:31285513|PMID:31866764|PMID:31970404|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33193653|PMID:33558524|PMID:33821390|PMID:34326862|PMID:34347074|PMID:34549727|PMID:35264596|PMID:36315513|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24844595|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27379089|PMID:27683556|PMID:27720647|PMID:27742654|PMID:28117753|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28776572|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29301327|PMID:29320758|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29641532|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31265121|PMID:31285513|PMID:31866764|PMID:31970404|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33193653|PMID:33558524|PMID:33821390|PMID:34326862|PMID:34347074|PMID:34549727|PMID:35264596|PMID:36315513|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: DLC1-related condition | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24844595|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27379089|PMID:27683556|PMID:27720647|PMID:27742654|PMID:28117753|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28776572|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29301327|PMID:29320758|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29641532|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31265121|PMID:31285513|PMID:31866764|PMID:31970404|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33193653|PMID:33558524|PMID:33821390|PMID:34326862|PMID:34347074|PMID:34549727|PMID:35264596|PMID:36315513|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24844595|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27379089|PMID:27683556|PMID:27720647|PMID:27742654|PMID:28117753|PMID:28125075|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28776572|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29301327|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29641532|PMID:29879026|PMID:29987844|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30448219|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30765821|PMID:30827058|PMID:30877237|PMID:30917185|PMID:31265121|PMID:31285513|PMID:31769227|PMID:31866764|PMID:31970404|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33193653|PMID:33194656|PMID:33365374|PMID:33558524|PMID:33821390|PMID:34326862|PMID:34347074|PMID:34549727|PMID:34749799|PMID:35264596|PMID:35624529|PMID:36315513|PMID:37231433|PMID:37460928|PMID:37990341|PMID:38874686|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: GALNT12-related condition | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24844595|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27379089|PMID:27683556|PMID:27720647|PMID:27742654|PMID:27854218|PMID:28117753|PMID:28125075|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28776572|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29301327|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29641532|PMID:29754823|PMID:29879026|PMID:29987844|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30448219|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30765821|PMID:30827058|PMID:30877237|PMID:30917185|PMID:31265121|PMID:31285513|PMID:31769227|PMID:31866764|PMID:31970404|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33193653|PMID:33194656|PMID:33558524|PMID:33821390|PMID:34326862|PMID:34347074|PMID:34549727|PMID:34749799|PMID:35264596|PMID:35534704|PMID:35624529|PMID:35957908|PMID:36315513|PMID:36627197|PMID:36629684|PMID:36896836|PMID:37231433|PMID:37460928|PMID:37990341|PMID:38874686|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: GALNT12-related condition | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24844595|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27379089|PMID:27683556|PMID:27720647|PMID:27742654|PMID:28117753|PMID:28125075|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28776572|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29301327|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29454559|PMID:29458332|PMID:29572003|PMID:29641532|PMID:29754823|PMID:29879026|PMID:29987844|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30448219|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30765821|PMID:30827058|PMID:30877237|PMID:30917185|PMID:31265121|PMID:31285513|PMID:31769227|PMID:31857678|PMID:31866764|PMID:31970404|PMID:32191290|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33193653|PMID:33194656|PMID:33558524|PMID:33821390|PMID:34326862|PMID:34347074|PMID:34549727|PMID:34749799|PMID:35264596|PMID:35534205|PMID:35534704|PMID:35624529|PMID:35957908|PMID:36315513|PMID:36627197|PMID:36629684|PMID:36896836|PMID:37088804|PMID:37231433|PMID:37460928|PMID:37990341|PMID:38874686|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: DLC1-related condition | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm | ClinVar Annotator: match by term: POLE-related polyposis and colorectal cancer syndrome	PMID:14760276|PMID:16199547|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:22493747|PMID:23230001|PMID:23263490|PMID:23447401|PMID:24033266|PMID:24480973|PMID:24525744|PMID:25058500|PMID:25124163|PMID:25224212|PMID:25505230|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25948378|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26763250|PMID:26845104|PMID:27153395|PMID:27379089|PMID:27720647|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28857155|PMID:28873162|PMID:28878254|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29320758|PMID:29458332|PMID:29572003|PMID:29641532|PMID:29754823|PMID:29987844|PMID:30267214|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30665374|PMID:30917185|PMID:31265121|PMID:31285513|PMID:31769227|PMID:31866764|PMID:31970404|PMID:32091409|PMID:32191290|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32973888|PMID:33001133|PMID:33821390|PMID:33872653|PMID:34326862|PMID:34347074|PMID:34549727|PMID:35101336|PMID:35264596|PMID:35534205|PMID:35534704|PMID:35599849|PMID:35860951|PMID:36315513|PMID:37088804|PMID:37460928|PMID:37848928|PMID:37990341|PMID:38874686|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: DLC1-related condition | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm | ClinVar Annotator: match by term: POLE-related polyposis and colorectal cancer syndrome	PMID:14760276|PMID:16199547|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:22493747|PMID:23230001|PMID:23263490|PMID:23447401|PMID:24033266|PMID:24480973|PMID:24525744|PMID:25058500|PMID:25124163|PMID:25224212|PMID:25505230|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25948378|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26763250|PMID:26845104|PMID:27153395|PMID:27379089|PMID:27720647|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28857155|PMID:28873162|PMID:28878254|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29320758|PMID:29572003|PMID:29641532|PMID:29754823|PMID:29987844|PMID:30267214|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30665374|PMID:30917185|PMID:31265121|PMID:31285513|PMID:31769227|PMID:31866764|PMID:31970404|PMID:32091409|PMID:32191290|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32973888|PMID:33001133|PMID:33821390|PMID:33872653|PMID:34326862|PMID:34549727|PMID:35101336|PMID:35264596|PMID:35534205|PMID:35534704|PMID:35599849|PMID:35860951|PMID:36315513|PMID:37088804|PMID:37460928|PMID:37848928|PMID:38874686|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1348983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm | ClinVar Annotator: match by term: POLE-related polyposis and colorectal cancer syndrome	PMID:14760276|PMID:16199547|PMID:16835919|PMID:17576681|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:22493747|PMID:23230001|PMID:23263490|PMID:23447401|PMID:24033266|PMID:24525744|PMID:25058500|PMID:25124163|PMID:25224212|PMID:25505230|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25948378|PMID:26133394|PMID:26251183|PMID:26467025|PMID:26763250|PMID:26845104|PMID:27153395|PMID:27379089|PMID:27720647|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28492532|PMID:28873162|PMID:28878254|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29320758|PMID:29572003|PMID:29641532|PMID:29754823|PMID:29987844|PMID:30267214|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30665374|PMID:30917185|PMID:31265121|PMID:31285513|PMID:31769227|PMID:31866764|PMID:31970404|PMID:32091409|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32973888|PMID:33001133|PMID:33821390|PMID:33872653|PMID:34326862|PMID:34549727|PMID:35101336|PMID:35264596|PMID:35534205|PMID:35534704|PMID:35599849|PMID:35860951|PMID:36315513|PMID:37088804|PMID:37460928|PMID:37848928|PMID:38874686|PMID:39256447|PMID:9536098
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1348983	D	RGD:9068941	20220204	RGD		protein:decreased expression:colorectum (human)	PMID:32567205|REF_RGD_ID:151347643
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1348983	D	RGD:9068941	20220204	RGD		DNA:mutations:multiple (human)	PMID:25124163|REF_RGD_ID:151347642
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer	onset	ISO	RGD:1348983	D	RGD:9068941	20220224	RGD		DNA:mutations:multiple (human)	PMID:27244218|REF_RGD_ID:151356953
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:1348983	D	RGD:9068941	20220204	RGD		DNA:missense mutation:CDS:multiple (human)	PMID:32859741|REF_RGD_ID:151347638
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer	sexual_dimorphism	ISO	RGD:1348983	D	RGD:9068941	20220204	RGD		DNA:missense mutation:CDS, exon 9:p.P286R (human)	PMID:27612425|REF_RGD_ID:151347640
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer	sexual_dimorphism	ISO	RGD:1348983	D	RGD:9068941	20220204	RGD		DNA:missense mutation:CDS:p.L424V (human)	PMID:29120461|REF_RGD_ID:151347652
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1348983	D	RGD:7240710	20260729	OMIM			
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9834	hyperopia		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:24033266|PMID:25637381|PMID:25741868|PMID:26251183|PMID:26467025|PMID:26845104|PMID:28195393|PMID:28492532|PMID:29120461|PMID:29641532|PMID:30267214|PMID:30917185|PMID:35534704
8709435	Pole	DNA polymerase epsilon, catalytic subunit	gene	DOID:9970	obesity		ISO	RGD:1348983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30267214|PMID:35534704
8709558	Cd86	CD86 molecule	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:628714	D	RGD:9068941	20200609	RGD			PMID:10590132|REF_RGD_ID:6902938
8709558	Cd86	CD86 molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8709558	Cd86	CD86 molecule	gene	DOID:10124	corneal disease		ISO	RGD:628714	D	RGD:9068941	20200609	RGD		protein:increased expression:corneal epithelium, Langerhans cell (rat)	PMID:19907296|REF_RGD_ID:4892211
8709558	Cd86	CD86 molecule	gene	DOID:1040	chronic lymphocytic leukemia		ISO	RGD:1604658	D	RGD:9068941	20200609	RGD		DNA:hypermethylation (human)	PMID:23154584|REF_RGD_ID:11354975
8709558	Cd86	CD86 molecule	gene	DOID:11123	IgA vasculitis	treatment	ISO	RGD:1604658	D	RGD:9068941	20200609	RGD		protein:increased expression:venous blood, B cell (human)	PMID:27030970|REF_RGD_ID:11354986
8709558	Cd86	CD86 molecule	gene	DOID:12053	cryptococcosis		ISO	RGD:734336	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, dendritic cell (mouse)	PMID:16790753|REF_RGD_ID:4892554
8709558	Cd86	CD86 molecule	gene	DOID:12449	aplastic anemia		ISO	RGD:1604658	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, dendritic cell (human)	PMID:21234821|REF_RGD_ID:11354968
8709558	Cd86	CD86 molecule	gene	DOID:12842	Guillain-Barre syndrome		ISO	RGD:734336	D	RGD:9068941	20220825	MouseDO		OMIM:139393	
8709558	Cd86	CD86 molecule	gene	DOID:1324	lung cancer		ISO	RGD:1604658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8709558	Cd86	CD86 molecule	gene	DOID:1909	melanoma		ISO	RGD:1604658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8709558	Cd86	CD86 molecule	gene	DOID:2123	tularemia		ISO	RGD:734336	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, dendritic cell (mouse)	PMID:16272336|REF_RGD_ID:4892560
8709558	Cd86	CD86 molecule	gene	DOID:2377	multiple sclerosis	susceptibility	ISO	RGD:1604658	D	RGD:9068941	20200609	RGD		DNA:snps, haplotypes:exons: G>A, G>C (rs1129055, rs17281995) (human)	PMID:26531698|REF_RGD_ID:11354964
8709558	Cd86	CD86 molecule	gene	DOID:2518	orchitis		ISO	RGD:628714	D	RGD:9068941	20200609	RGD		protein:increased expression:testis, macrophage (rat)	PMID:18381617|REF_RGD_ID:4892229
8709558	Cd86	CD86 molecule	gene	DOID:2773	contact dermatitis		ISO	RGD:1604658	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
8709558	Cd86	CD86 molecule	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:628714	D	RGD:9068941	20200609	RGD			PMID:11266944|REF_RGD_ID:2307206
8709558	Cd86	CD86 molecule	gene	DOID:2841	asthma		ISO	RGD:1604658	D	RGD:9068941	20200609	RGD		DNA:snp:exon:p.I179V rs2681417 (human)	PMID:17513529|REF_RGD_ID:4892280
8709558	Cd86	CD86 molecule	gene	DOID:2841	asthma		ISO	RGD:1604658	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, B cell (human)	PMID:9449507|REF_RGD_ID:4892555
8709558	Cd86	CD86 molecule	gene	DOID:2841	asthma		ISO	RGD:628714	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, dendritic cell (rat)	PMID:20668438|REF_RGD_ID:4892199
8709558	Cd86	CD86 molecule	gene	DOID:2841	asthma		ISO	RGD:734336	D	RGD:9068941	20200609	RGD			PMID:9551945|REF_RGD_ID:4892202
8709558	Cd86	CD86 molecule	gene	DOID:2841	asthma		ISO	RGD:734336	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, alveolar macrophage (mouse)	PMID:20941750|REF_RGD_ID:4892277
8709558	Cd86	CD86 molecule	gene	DOID:2841	asthma	treatment	ISO	RGD:734336	D	RGD:9068941	20200609	RGD			PMID:25344652|REF_RGD_ID:11354965
8709558	Cd86	CD86 molecule	gene	DOID:2917	cryoglobulinemia		ISO	RGD:1604658	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human)	PMID:23840845|REF_RGD_ID:11354974
8709558	Cd86	CD86 molecule	gene	DOID:2942	bronchiolitis		ISO	RGD:734336	D	RGD:9068941	20200609	RGD		protein:decreased expression:myeloid dendritic cell (mouse)	PMID:20046053|REF_RGD_ID:4892291
8709558	Cd86	CD86 molecule	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1604658	D	RGD:9068941	20200609	RGD		protein:decreased expression:sputum, macrophage (human)	PMID:17713660|REF_RGD_ID:4892339
8709558	Cd86	CD86 molecule	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1604658	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, myeloid dendritic cell (human)	PMID:19729666|REF_RGD_ID:4892292
8709558	Cd86	CD86 molecule	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1604658	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:g.1057G>A rs1129055 (human)	PMID:20732370|REF_RGD_ID:4891504
8709558	Cd86	CD86 molecule	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:628714	D	RGD:9068941	20200609	RGD		protein:increased expression:brain subventricular zone, microglial cell (rat)	PMID:19053043|REF_RGD_ID:2313025
8709558	Cd86	CD86 molecule	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:734336	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, dendritic cell (mouse)	PMID:20395561|REF_RGD_ID:4892281
8709558	Cd86	CD86 molecule	gene	DOID:399	tuberculosis		ISO	RGD:734336	D	RGD:9068941	20200609	RGD		protein:increased expression:lung (mouse)	PMID:18292558|REF_RGD_ID:4892329
8709558	Cd86	CD86 molecule	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8709558	Cd86	CD86 molecule	gene	DOID:409	liver disease		ISO	RGD:1604658	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
8709558	Cd86	CD86 molecule	gene	DOID:418	systemic scleroderma		ISO	RGD:1604658	D	RGD:9068941	20200609	RGD		DNA:snp:5' utr:g.-3479T>G (human)	PMID:16790753|REF_RGD_ID:4892554
8709558	Cd86	CD86 molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1604658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8709558	Cd86	CD86 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709558	Cd86	CD86 molecule	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1604658	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood, myeloid dendritic cell (human)	PMID:19693657|REF_RGD_ID:4892293
8709558	Cd86	CD86 molecule	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:734336	D	RGD:9068941	20200609	RGD		associated with Paramyxoviridae Infections; protein:increased expression:lung (mouse)	PMID:19282343|REF_RGD_ID:4892294
8709558	Cd86	CD86 molecule	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:1604658	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood mononuclear cell (human)	PMID:19379594|REF_RGD_ID:11354966
8709558	Cd86	CD86 molecule	gene	DOID:8924	autoimmune thrombocytopenic purpura	treatment	ISO	RGD:1604658	D	RGD:9068941	20200609	RGD			PMID:20581660|REF_RGD_ID:11520785
8709558	Cd86	CD86 molecule	gene	DOID:9000469	Viral Myocarditis	treatment	ISO	RGD:734336	D	RGD:9068941	20200609	RGD			PMID:10398149|REF_RGD_ID:13702899
8709558	Cd86	CD86 molecule	gene	DOID:9000930	Dental Pulp Exposure		ISO	RGD:628714	D	RGD:9068941	20200609	RGD		mRNA:increased expression:periodontal ligament (rat)	PMID:20113783|REF_RGD_ID:4892210
8709558	Cd86	CD86 molecule	gene	DOID:9000930	Dental Pulp Exposure		ISO	RGD:628714	D	RGD:9068941	20200609	RGD		mRNA:increased expression:thalamus (rat)	PMID:20171363|REF_RGD_ID:4892246
8709558	Cd86	CD86 molecule	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:628714	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:mediastinal lymph node (rat)	PMID:18360875|REF_RGD_ID:4892237
8709558	Cd86	CD86 molecule	gene	DOID:9001049	Staphylococcal Pneumonia		ISO	RGD:734336	D	RGD:9068941	20200609	RGD		protein:decreased expression:spleen, plasmacytoid dendritic cell (mouse)	PMID:20949109|REF_RGD_ID:4892562
8709558	Cd86	CD86 molecule	gene	DOID:9001488	Human Influenza		ISO	RGD:734336	D	RGD:9068941	20200609	RGD		protein:increased expression:mediastinal lymph node, B cell (mouse)	PMID:19933871|REF_RGD_ID:4892570
8709558	Cd86	CD86 molecule	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1604658	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8709558	Cd86	CD86 molecule	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	severity	ISO	RGD:1604658	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood mononuclear cell (human)	PMID:25179679|REF_RGD_ID:11354969
8709558	Cd86	CD86 molecule	gene	DOID:9002283	Experimental Allergic Asthma	treatment	ISO	RGD:734336	D	RGD:9068941	20200609	RGD			PMID:25344652|REF_RGD_ID:11354965
8709558	Cd86	CD86 molecule	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	disease_progression	ISO	RGD:628714	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord, blood vessel (rat)	PMID:20451260|REF_RGD_ID:4892207
8709558	Cd86	CD86 molecule	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	resistance	ISO	RGD:734336	D	RGD:9068941	20200609	RGD			PMID:10477557|REF_RGD_ID:4892227
8709558	Cd86	CD86 molecule	gene	DOID:9002869	Schistosomiasis Mansoni		ISO	RGD:1604658	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood, eosinophil (human)	PMID:17308795|REF_RGD_ID:11354987
8709558	Cd86	CD86 molecule	gene	DOID:9003657	Perennial Allergic Rhinitis		ISO	RGD:1604658	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal mucosa, dendritic cell (human)	PMID:17088138|REF_RGD_ID:4892343
8709558	Cd86	CD86 molecule	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:734336	D	RGD:9068941	20200609	RGD			PMID:8993020|REF_RGD_ID:2313930
8709558	Cd86	CD86 molecule	gene	DOID:9005936	Gastro-Enteropancreatic Neuroendocrine Tumor		ISO	RGD:1604658	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915428
8709558	Cd86	CD86 molecule	gene	DOID:9006844	Streptococcal Infections		ISO	RGD:734336	D	RGD:9068941	20200609	RGD		associated with Encephalomyelitis, Experimental Autoimmune; protein:increased expression:spleen, dendritic cell (mouse)	PMID:16861672|REF_RGD_ID:4892553
8709558	Cd86	CD86 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8709558	Cd86	CD86 molecule	gene	DOID:9007730	Burns		ISO	RGD:628714	D	RGD:9068941	20200609	RGD		protein:increased expression:spleen, dendritic cell (rat)	PMID:20233162|REF_RGD_ID:4892209
8709558	Cd86	CD86 molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8709558	Cd86	CD86 molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8709558	Cd86	CD86 molecule	gene	DOID:9119	acute myeloid leukemia	severity	ISO	RGD:1604658	D	RGD:9068941	20200609	RGD		protein:increased expression:mononuclear cell of bone marrow (human)	PMID:16115907|REF_RGD_ID:11354960
8709558	Cd86	CD86 molecule	gene	DOID:9538	multiple myeloma		ISO	RGD:1604658	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16611307
8709558	Cd86	CD86 molecule	gene	DOID:9538	multiple myeloma	severity	ISO	RGD:1604658	D	RGD:9068941	20200609	RGD		protein:increased expression:bone marrow, plasma cell (human)	PMID:22705596|REF_RGD_ID:11354971
8709558	Cd86	CD86 molecule	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1604658	D	RGD:9068941	20200609	RGD		human gene in mouse model	PMID:17947667|REF_RGD_ID:4892258
8709558	Cd86	CD86 molecule	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1604658	D	RGD:9068941	20200609	RGD		protein:decreased expression:dendritic cell	PMID:16232222|REF_RGD_ID:2313911
8709558	Cd86	CD86 molecule	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1604658	D	RGD:9068941	20200609	RGD		protein:increased expression:dendritic cell	PMID:12742378|REF_RGD_ID:2313920
8709558	Cd86	CD86 molecule	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:734336	D	RGD:9068941	20200609	RGD			PMID:15356107|REF_RGD_ID:2313917
8709558	Cd86	CD86 molecule	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:734336	D	RGD:9068941	20200609	RGD		protein:decreased expression:macrophage,dendritic cell,T cell	PMID:10679081|REF_RGD_ID:2313927
8709558	Cd86	CD86 molecule	gene	DOID:9744	type 1 diabetes mellitus	onset	ISO	RGD:734336	D	RGD:9068941	20200609	RGD		protein:decreased expression:dendritic cells	PMID:18316361|REF_RGD_ID:2313906
8709558	Cd86	CD86 molecule	gene	DOID:9952	acute lymphoblastic leukemia	severity	ISO	RGD:1604658	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human)	PMID:24283754|REF_RGD_ID:11354967
8709568	C4bpb	complement component 4 binding protein beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8709568	C4bpb	complement component 4 binding protein beta	gene	DOID:0080600	COVID-19	severity	ISO	RGD:736875	D	RGD:9068941	20200813	RGD		DNA:SNP: :rs45574833(human)	PMID:32747830|REF_RGD_ID:38500238
8709568	C4bpb	complement component 4 binding protein beta	gene	DOID:1324	lung cancer		ISO	RGD:736875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8709568	C4bpb	complement component 4 binding protein beta	gene	DOID:5041	esophageal cancer		ISO	RGD:736875	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8709568	C4bpb	complement component 4 binding protein beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8709588	Rabep1	rabaptin, RAB GTPase binding effector protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8709588	Rabep1	rabaptin, RAB GTPase binding effector protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8709588	Rabep1	rabaptin, RAB GTPase binding effector protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346664	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8709588	Rabep1	rabaptin, RAB GTPase binding effector protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1346664	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8709588	Rabep1	rabaptin, RAB GTPase binding effector protein 1	gene	DOID:1909	melanoma		ISO	RGD:1346664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8709588	Rabep1	rabaptin, RAB GTPase binding effector protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8709588	Rabep1	rabaptin, RAB GTPase binding effector protein 1	gene	DOID:3275	thymoma		ISO	RGD:1346664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8709588	Rabep1	rabaptin, RAB GTPase binding effector protein 1	gene	DOID:3307	teratoma		ISO	RGD:1346664	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
8709588	Rabep1	rabaptin, RAB GTPase binding effector protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8709588	Rabep1	rabaptin, RAB GTPase binding effector protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8709588	Rabep1	rabaptin, RAB GTPase binding effector protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346664	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8709588	Rabep1	rabaptin, RAB GTPase binding effector protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709588	Rabep1	rabaptin, RAB GTPase binding effector protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1346664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8709588	Rabep1	rabaptin, RAB GTPase binding effector protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8709588	Rabep1	rabaptin, RAB GTPase binding effector protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8709588	Rabep1	rabaptin, RAB GTPase binding effector protein 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1346664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8709588	Rabep1	rabaptin, RAB GTPase binding effector protein 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1346664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8709588	Rabep1	rabaptin, RAB GTPase binding effector protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8709588	Rabep1	rabaptin, RAB GTPase binding effector protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8709588	Rabep1	rabaptin, RAB GTPase binding effector protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8709626	Nup88	nucleoporin 88	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8709626	Nup88	nucleoporin 88	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8709626	Nup88	nucleoporin 88	gene	DOID:0111379	fetal akinesia deformation sequence syndrome 4		ISO	RGD:733611	D	RGD:7240710	20190515	OMIM			
8709626	Nup88	nucleoporin 88	gene	DOID:0111379	fetal akinesia deformation sequence syndrome 4		ISO	RGD:733611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 4 | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 | ClinVar Annotator: match by term: NUP88-related condition	PMID:25741868
8709626	Nup88	nucleoporin 88	gene	DOID:1909	melanoma		ISO	RGD:733611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8709626	Nup88	nucleoporin 88	gene	DOID:3275	thymoma		ISO	RGD:733611	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8709626	Nup88	nucleoporin 88	gene	DOID:4362	cervical cancer		ISO	RGD:733611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8709626	Nup88	nucleoporin 88	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8709626	Nup88	nucleoporin 88	gene	DOID:5041	esophageal cancer		ISO	RGD:733611	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8709626	Nup88	nucleoporin 88	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:733611	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8709626	Nup88	nucleoporin 88	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8709626	Nup88	nucleoporin 88	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709626	Nup88	nucleoporin 88	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8709626	Nup88	nucleoporin 88	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8709626	Nup88	nucleoporin 88	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8709626	Nup88	nucleoporin 88	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8709647	Cdc16	cell division cycle 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8709647	Cdc16	cell division cycle 16	gene	DOID:10534	stomach cancer		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8709647	Cdc16	cell division cycle 16	gene	DOID:1115	sarcoma		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8709647	Cdc16	cell division cycle 16	gene	DOID:1324	lung cancer		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8709647	Cdc16	cell division cycle 16	gene	DOID:3275	thymoma		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8709647	Cdc16	cell division cycle 16	gene	DOID:4362	cervical cancer		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8709647	Cdc16	cell division cycle 16	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8709647	Cdc16	cell division cycle 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709647	Cdc16	cell division cycle 16	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8709647	Cdc16	cell division cycle 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8709647	Cdc16	cell division cycle 16	gene	DOID:9256	colorectal cancer		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:0060249	scoliosis		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:23566544|PMID:25741868|PMID:26298607|PMID:28492532
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:0060260	ptosis		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:14681881|PMID:25326637|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:0110171	Charcot-Marie-Tooth disease axonal type 2S		ISO	RGD:68450	D	RGD:7240710	20180130	OMIM			
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:0110171	Charcot-Marie-Tooth disease axonal type 2S		ISO	RGD:68450	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2S | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2S | ClinVar Annotator: match by term: IGHMBP2-related condition	PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15503272|PMID:15797190|PMID:16199547|PMID:16765827|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19158098|PMID:21353777|PMID:21360834|PMID:22157136|PMID:23566544|PMID:23929295|PMID:24033266|PMID:25326637|PMID:25439726|PMID:25473036|PMID:25568292|PMID:25741868|PMID:26257172|PMID:26298607|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26922252|PMID:27450922|PMID:28065684|PMID:28397221|PMID:28492532|PMID:29653221|PMID:29858556|PMID:30409445|PMID:30598237|PMID:30665247|PMID:30665423|PMID:30755392|PMID:31020813|PMID:31069529|PMID:31178897|PMID:31211173|PMID:32154989|PMID:32190976|PMID:32376792|PMID:33369814|PMID:34190362|PMID:34232518|PMID:34255403|PMID:34602496|PMID:34668123|PMID:34986626|PMID:35086940|PMID:36077311|PMID:38046662|PMID:38672198|PMID:38772550|PMID:9536098
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:28492532|PMID:31020813|PMID:32190976
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:0111064	autosomal recessive distal hereditary motor neuronopathy 1		ISO	RGD:68450	D	RGD:7240710	20180130	OMIM			
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:0111064	autosomal recessive distal hereditary motor neuronopathy 1		ISO	RGD:68450	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1	PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15269181|PMID:15503272|PMID:15797190|PMID:16199547|PMID:16765827|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:21353777|PMID:21360834|PMID:22157136|PMID:22791546|PMID:23566544|PMID:23929295|PMID:24022109|PMID:24033266|PMID:25280635|PMID:25326637|PMID:25439726|PMID:25454169|PMID:25473036|PMID:25568292|PMID:25640679|PMID:25741868|PMID:26257172|PMID:26298607|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26922252|PMID:27450922|PMID:28065684|PMID:28202949|PMID:28251916|PMID:28397221|PMID:28492532|PMID:28902413|PMID:29653221|PMID:29858556|PMID:30409445|PMID:30598237|PMID:30665247|PMID:30665423|PMID:30755392|PMID:30863264|PMID:31019026|PMID:31020813|PMID:31069529|PMID:31178897|PMID:31211173|PMID:32154989|PMID:32190976|PMID:32376792|PMID:32488064|PMID:32573669|PMID:33189025|PMID:33258288|PMID:33369814|PMID:34169998|PMID:34232518|PMID:34255403|PMID:34539730|PMID:34602496|PMID:34668123|PMID:34986626|PMID:35086940|PMID:35660062|PMID:36077311|PMID:38046662|PMID:38259611|PMID:38672198|PMID:38772550|PMID:38871447|PMID:9536098
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:0111198	autosomal dominant distal hereditary motor neuronopathy		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant	PMID:11528396|PMID:14681881|PMID:15797190|PMID:16199547|PMID:17431882|PMID:22157136|PMID:23449687|PMID:23566544|PMID:23929295|PMID:24022109|PMID:24033266|PMID:24342282|PMID:24388491|PMID:25439726|PMID:25454169|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26467025|PMID:27450922|PMID:28403181|PMID:28492532|PMID:30598237|PMID:31211173|PMID:36077311
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:0111209	autosomal dominant distal hereditary motor neuronopathy 4		ISO	RGD:68450	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2C	PMID:25741868|PMID:28492532
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:10024	migraine with aura		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine with aura	PMID:25741868|PMID:28492532|PMID:31020813|PMID:32190976
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:68450	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:68450	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:29761130|PMID:30598237|PMID:30863264|PMID:32376792|PMID:32573669|PMID:33258288|PMID:9536098
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:68450	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26709713|PMID:27727376|PMID:28251916|PMID:28492532|PMID:28765793|PMID:29761130|PMID:30598237|PMID:30863264|PMID:32376792|PMID:32573669|PMID:33258288|PMID:9536098
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:68450	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25439726|PMID:25473036|PMID:25568292|PMID:25741868|PMID:25741915|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26709713|PMID:26922252|PMID:27727376|PMID:28251916|PMID:28492532|PMID:28765793|PMID:29761130|PMID:29858556|PMID:30598237|PMID:30863264|PMID:32376792|PMID:32573669|PMID:32709422|PMID:33258288|PMID:9536098
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:68450	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25439726|PMID:25473036|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26709713|PMID:26922252|PMID:27727376|PMID:28251916|PMID:28492532|PMID:28765793|PMID:29761130|PMID:29858556|PMID:30598237|PMID:30863264|PMID:32376792|PMID:32573669|PMID:32709422|PMID:33258288|PMID:9536098
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:68450	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15287252|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25248952|PMID:25326635|PMID:25439726|PMID:25473036|PMID:25525159|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26298607|PMID:26354092|PMID:26392352|PMID:26467025|PMID:26709713|PMID:26922252|PMID:27727376|PMID:28251916|PMID:28492532|PMID:28765793|PMID:29431110|PMID:29761130|PMID:29858556|PMID:30598237|PMID:30863264|PMID:32376792|PMID:32573669|PMID:32709422|PMID:33258288|PMID:35936615|PMID:9536098
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:68450	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19158098|PMID:21353777|PMID:22157136|PMID:23566544|PMID:24033266|PMID:25439726|PMID:25473036|PMID:25568292|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28492532|PMID:31069529|PMID:32376792|PMID:34255403|PMID:34490615|PMID:34668123|PMID:35086940|PMID:35628876|PMID:36077311|PMID:38046662|PMID:38672198|PMID:39815358|PMID:9536098
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:10907	microcephaly		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:23566544|PMID:25741868|PMID:26298607|PMID:28492532
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:11162	respiratory failure		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:68450	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY	PMID:14506069|PMID:14681881|PMID:15108294|PMID:15290238|PMID:16199547|PMID:16765827|PMID:16964485|PMID:17431882|PMID:18802676|PMID:19158098|PMID:21353777|PMID:22157136|PMID:22965130|PMID:23566544|PMID:25439726|PMID:25473036|PMID:25568292|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26922252|PMID:28065684|PMID:28397221|PMID:28492532|PMID:30409445|PMID:31178897|PMID:31211173|PMID:32154989|PMID:32376792|PMID:34986626|PMID:35086940|PMID:36077311|PMID:38415210|PMID:39170411|PMID:39973457
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:1389	polyneuropathy		ISO	RGD:68450	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:14506069|PMID:14681881|PMID:16964485|PMID:17431882|PMID:18802676|PMID:21353777|PMID:22157136|PMID:23566544|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28492532|PMID:35086940|PMID:36077311
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:1826	epilepsy		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:31020813|PMID:32190976
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:1924	hypogonadism		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:28492532
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:2030	anxiety disorder		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:255	hemangioma		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:26392352|PMID:27450922|PMID:28492532
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:2841	asthma		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:480	movement disease		ISO	RGD:68450	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68450	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:68450	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15503272|PMID:16964485|PMID:17431882|PMID:18802676|PMID:19158098|PMID:21353777|PMID:22157136|PMID:23566544|PMID:25439726|PMID:25741868|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27450922|PMID:28492532|PMID:30409445|PMID:30665247|PMID:30665423|PMID:31178897|PMID:32376792|PMID:33369814|PMID:34232518|PMID:34602496|PMID:34986626|PMID:35086940|PMID:36077311
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:7319	axonal neuropathy		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Motor axonal neuropathy	PMID:25741868|PMID:28492532|PMID:31020813|PMID:32190976
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:767	muscular atrophy		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:28492532|PMID:30598237
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:870	neuropathy		ISO	RGD:68450	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:11528396|PMID:16765827|PMID:22157136|PMID:25439726|PMID:25741868|PMID:26392352|PMID:28492532|PMID:29858556|PMID:30598237
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:9000292	Respiratory Paralysis		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diaphragmatic paralysis	PMID:28492532|PMID:30598237
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:14681881|PMID:25326637|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:9003507	Premature Birth		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:9005077	Joint Instability		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532|PMID:31020813|PMID:32190976
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:68450	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:14681881|PMID:25326637|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: hypotonia	PMID:14681881|PMID:15108294|PMID:23566544|PMID:25741868|PMID:26298607|PMID:28065684|PMID:28492532|PMID:30598237
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68450	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:9007114	Mobility Limitation		ISO	RGD:68450	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:14506069|PMID:14681881|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:9008811	Tachypnea		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:14681881|PMID:25326637|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8709668	Ighmbp2	immunoglobulin mu DNA binding protein 2	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:68450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	PMID:23566544|PMID:25741868|PMID:26298607|PMID:28492532
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:0050581	brachydactyly		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1322449	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:0060320	inguinal hernia		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:0060321	umbilical hernia		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:0070445	early-onset dystonia and/or spastic paraplegia		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:0080074	neural tube defect		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neural tube defect	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1322449	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex	PMID:25741868
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:0080833	laryngomalacia		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:0080918	polymicrogyria		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:0081226	autosomal recessive intellectual developmental disorder 65		ISO	RGD:1322449	D	RGD:7240710	20190315	OMIM			
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:0081226	autosomal recessive intellectual developmental disorder 65		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 65 | ClinVar Annotator: match by term: KDM5B-related condition	PMID:25741868|PMID:28492532|PMID:29276005|PMID:30217758|PMID:30409806|PMID:31133750|PMID:36368308
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:1322449	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:25741868
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:25741868
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:10283	prostate cancer	severity	ISO	RGD:1322449	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate gland (human)	PMID:18048344|REF_RGD_ID:9587744
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:10534	stomach cancer		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:1059	intellectual disability		ISO	RGD:1322449	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: intellectual disabilities	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:1059	intellectual disability		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:10908	hydrocephalus		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:1115	sarcoma		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:11714	gestational diabetes		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:12849	autistic disorder		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868|PMID:28492532
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:12849	autistic disorder		ISO	RGD:1322449	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:13209	right bundle branch block		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Right bundle branch block	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:1324	lung cancer		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:13620	patent foramen ovale		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:13938	amenorrhea		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amenorrhea	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:1612	breast cancer	treatment	ISO	RGD:1322449	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:21369698|REF_RGD_ID:9587774
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:1657	ventricular septal defect		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:1826	epilepsy		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:1909	melanoma		ISO	RGD:1322449	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:1969	cerebral palsy		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:3070	high grade glioma		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:3070	high grade glioma	disease_progression	ISO	RGD:1322449	D	RGD:9068941	20200609	RGD			PMID:25450384|REF_RGD_ID:13702126
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:3275	thymoma		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:3748	esophagus squamous cell carcinoma	severity	ISO	RGD:1322449	D	RGD:9068941	20200609	RGD		protein:increased expression:esophageal mucosa, cytoplasm (human)	PMID:22534467|REF_RGD_ID:9587776
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:4362	cervical cancer		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:4702	mongolian spot		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:480	movement disease		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:5041	esophageal cancer		ISO	RGD:1322449	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:540	strabismus		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:5844	myocardial infarction	ameliorates	ISO	RGD:1557118	D	RGD:9068941	20230624	RGD			PMID:36481938|REF_RGD_ID:329901769
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:6039	uveal melanoma	severity	ISO	RGD:1322449	D	RGD:9068941	20200609	RGD		protein:increased expression:uvea (human)	PMID:22669717|REF_RGD_ID:9587775
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:630	genetic disease		ISO	RGD:1322449	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:32368696
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1557118	D	RGD:9068941	20230713	RGD		associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse)	PMID:30172777|REF_RGD_ID:329955443
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:674	cleft palate		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:8488	polyhydramnios		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9000495	Tremor		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9000892	Fetal Distress		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal distress	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1322449	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25043185
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9003816	Macrocephaly		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532|PMID:29276005|PMID:30217758|PMID:30409806|PMID:35468861|PMID:36350923|PMID:39202393
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9004865	Nuchal Cord		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nuchal cord	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9006617	Fatigue		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9007573	Flatfoot		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9007661	Dwarfism		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28554332|PMID:29276005|PMID:30217758|PMID:30409806|PMID:39202393
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9008443	Colorectal Neoplasms	severity	ISO	RGD:1322449	D	RGD:9068941	20200609	RGD			PMID:23354547|REF_RGD_ID:9587777
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9008582	Developmental Disease		ISO	RGD:1322449	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9008939	Breast Neoplasms	severity	ISO	RGD:1322449	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast (human)	PMID:10336460|REF_RGD_ID:9587743
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9256	colorectal cancer		ISO	RGD:1322449	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8709690	Kdm5b	lysine demethylase 5B	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
8709724	Gpr12	G protein-coupled receptor 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709724	Gpr12	G protein-coupled receptor 12	gene	DOID:9970	obesity		ISO	RGD:68466	D	RGD:9068941	20220825	MouseDO		OMIM:601665	
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:69659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28067908
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:69659	D	RGD:9068941	20200609	RGD			PMID:15638228|REF_RGD_ID:1625756
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:0050745	diffuse large B-cell lymphoma	disease_progression	ISO	RGD:69659	D	RGD:9068941	20200609	RGD		proteion:increased expression:serum:	PMID:12598355|REF_RGD_ID:11354982
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased secretion:plasma (human)	PMID:20004360|REF_RGD_ID:4145463
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:69659	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:0051061	stroke		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20083630
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:0051061	stroke	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:10066862|REF_RGD_ID:11522710
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:7686390|REF_RGD_ID:11520780
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:0060180	colitis		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		protein:increased expression:colon:	PMID:22261574|REF_RGD_ID:7207796
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:69659	D	RGD:9068941	20240801	RGD		protein:increased expression:blood serum (human)	PMID:21635548|REF_RGD_ID:407420270
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:0080998	acute necrotizing pancreatitis		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas, lung (rat)	PMID:20950211|REF_RGD_ID:4145335
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:0081120	Graves ophthalmopathy		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :c.1405A>G (human)	PMID:14557478|REF_RGD_ID:8158124
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:10756	D	RGD:9068941	20200609	RGD		protein:increased expression:liver,bile duct:	PMID:10051478|REF_RGD_ID:11520783
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:0081292	traumatic brain injury		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28642177
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:0111151	Prinzmetal angina		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:9415270|REF_RGD_ID:8547713
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:10128	venous insufficiency	susceptibility	ISO	RGD:69659	D	RGD:9068941	20200609	RGD		associated with Venous Thrombosis;	PMID:25495610|REF_RGD_ID:11054206
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:10230	aortic atherosclerosis	treatment	ISO	RGD:2857	D	RGD:9068941	20260226	RGD			PMID:32397494|REF_RGD_ID:632527149
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:10247	pleurisy		ISO	RGD:10756	D	RGD:9068941	20200609	RGD		protein:increased expression:bronchial epithelium (mouse)	PMID:19056932|REF_RGD_ID:4145519
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:10247	pleurisy		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11181422
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:10247	pleurisy		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		associated with Tuberculosis; protein:increased expression:pleural fluid, natural killer cell (human)	PMID:19714575|REF_RGD_ID:4145510
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:10283	prostate cancer		ISO	RGD:69659	D	RGD:9068941	20200609	RGD			PMID:19536890|REF_RGD_ID:4145511
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:10591	pre-eclampsia	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:21830843|REF_RGD_ID:8547718
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.K469E (human)	PMID:12498973|REF_RGD_ID:1358664
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:10754	otitis media		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20926702|REF_RGD_ID:8547580
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:10763	hypertension		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12149661|PMID:12425201
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:10763	hypertension		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum	PMID:18619052|REF_RGD_ID:2312765
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:10952	nephritis	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:8773354|REF_RGD_ID:8547716
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:10964	cholesteatoma of middle ear		ISO	RGD:69659	D	RGD:9068941	20200609	RGD			PMID:8562031|REF_RGD_ID:8547586
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:7686390|REF_RGD_ID:11520780
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:11204	allergic conjunctivitis		ISO	RGD:69659	D	RGD:9068941	20200609	RGD			PMID:8766745|REF_RGD_ID:8547686
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:11263	chlamydia		ISO	RGD:10756	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:19728926|REF_RGD_ID:4145507
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:11394	adult respiratory distress syndrome	severity	ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased secretion:plasma (human)	PMID:19858233|REF_RGD_ID:4145485
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:20546684|REF_RGD_ID:8547739
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:11713	diabetic angiopathy		ISO	RGD:10756	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA:increased expression:aorta	PMID:18093596|REF_RGD_ID:2306988
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:11713	diabetic angiopathy		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:18796303|REF_RGD_ID:2313473
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:11714	gestational diabetes		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:decreased expression:placenta	PMID:19343356|REF_RGD_ID:2313469
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:11714	gestational diabetes		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:decidua, endothelial cell	PMID:17990298|REF_RGD_ID:2313476
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle (rat)	PMID:20601373|REF_RGD_ID:4145536
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:1205	allergic disease		ISO	RGD:69659	D	RGD:9068941	20200609	RGD			PMID:7524984|REF_RGD_ID:8158114
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:1205	allergic disease		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		associated with Giardiasis;protein:increased expression:serum	PMID:15587302|REF_RGD_ID:8547689
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:69659	D	RGD:9068941	20250116	RGD		protein:increased expression:serum:	PMID:11280567|REF_RGD_ID:597000690
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:12236	primary biliary cholangitis	treatment	ISO	RGD:10756	D	RGD:9068941	20200609	RGD		associated with Graft vs Host Disease;	PMID:10051478|REF_RGD_ID:11520783
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:12351	alcoholic hepatitis	severity	ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:hepatocyte	PMID:1347281|REF_RGD_ID:14402038
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:12361	Graves' disease		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, lymphocyte	PMID:12357047|REF_RGD_ID:8158121
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:12361	Graves' disease	no_association	ISO	RGD:69659	D	RGD:9068941	20200609	RGD		DNA:SNP: :p.K469E (rs5498) (human)	PMID:17873320|REF_RGD_ID:8547702
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:12361	Graves' disease	onset	ISO	RGD:69659	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :c.721G>A (human)	PMID:14557478|REF_RGD_ID:8158124
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:12365	malaria		ISO	RGD:69659	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ICAM1-related condition | ClinVar Annotator: match by term: Malaria, susceptibility to	PMID:25741868
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:12365	malaria	susceptibility	ISO	RGD:69659	D	RGD:7240710	20190502	OMIM			
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:12662	paracoccidioidomycosis		ISO	RGD:10756	D	RGD:9068941	20200609	RGD			PMID:17003484|REF_RGD_ID:8547589
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:10756	D	RGD:9068941	20200609	RGD		protein:increased expression:lung (mouse)	PMID:20888423|REF_RGD_ID:4145440
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat)	PMID:19837405|REF_RGD_ID:4145493
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17425601
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased secretion:nasopharynx	PMID:20209309|REF_RGD_ID:4140425
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16332659|PMID:25575156
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:10756	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:15037117|REF_RGD_ID:8547696
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:salivary gland	PMID:11359451|REF_RGD_ID:8158122
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:12894	Sjogren's syndrome	treatment	ISO	RGD:10756	D	RGD:9068941	20200609	RGD			PMID:21589878|REF_RGD_ID:8547705
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:12986	leukostasis		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10485912
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina (rat)	PMID:20368504|REF_RGD_ID:4145427
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:13141	uveitis		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:altered expression:serum, vitreous humor	PMID:9640197|REF_RGD_ID:8547585
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:13141	uveitis	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:7641842|REF_RGD_ID:8158119
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:13166	allergic bronchopulmonary aspergillosis		ISO	RGD:10756	D	RGD:9068941	20200609	RGD			PMID:7743671|REF_RGD_ID:8547590
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:13241	Behcet's disease		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12074830|PMID:8712863
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:13241	Behcet's disease		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:p.R241G (human)	PMID:11409120|REF_RGD_ID:8547575
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:13241	Behcet's disease	no_association	ISO	RGD:69659	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:p.R241G (human)	PMID:10792421|REF_RGD_ID:8158123
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:13241	Behcet's disease	susceptibility	ISO	RGD:69659	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.K469E (human)	PMID:12808331|REF_RGD_ID:8158115
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:13252	mesenteric vascular occlusion	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:7858885|REF_RGD_ID:11522711
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:13580	cholestasis		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21224055
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:13608	biliary atresia	susceptibility	ISO	RGD:69659	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.G241R (human)	PMID:18401716|REF_RGD_ID:14402043
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:1555	urticaria		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12121561
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:1586	rheumatic fever		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:14567831|REF_RGD_ID:13702910
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:1612	breast cancer		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:7686390|REF_RGD_ID:11520780
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:pancreas	PMID:11815996|REF_RGD_ID:2325165
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:1909	melanoma		ISO	RGD:69659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:1909	melanoma	disease_progression	ISO	RGD:69659	D	RGD:9068941	20200609	RGD			PMID:8599446|REF_RGD_ID:8547584
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:1936	atherosclerosis		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12677255
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:22379785|REF_RGD_ID:8547729
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:2316	brain ischemia		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17394460|PMID:19417757
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28569748
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20175758
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:2394	ovarian cancer		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:7686390|REF_RGD_ID:11520780
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:2527	nephrosis		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12845231
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:2723	dermatitis	treatment	ISO	RGD:10756	D	RGD:9068941	20200609	RGD			PMID:9366707|REF_RGD_ID:8547708
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:2773	contact dermatitis		ISO	RGD:10756	D	RGD:9068941	20200609	RGD			PMID:20182448|REF_RGD_ID:5685684
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:2797	idiopathic interstitial pneumonia		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, alveolar macrophage (human)	PMID:19218648|REF_RGD_ID:4145518
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:2841	asthma		ISO	RGD:10756	D	RGD:9068941	20200609	RGD		mRNA:increased expression:aorta (mouse)	PMID:20400685|REF_RGD_ID:4145444
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:2841	asthma		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, serum (rat)	PMID:20953388|REF_RGD_ID:4145331
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:2841	asthma		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17014439|PMID:25003170
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:2841	asthma		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased secretion:lung (human)	PMID:20205697|REF_RGD_ID:4145509
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:22659586|REF_RGD_ID:7175102
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:10756	D	RGD:9068941	20200609	RGD		protein:decreased expression:airway epithelium (mouse)	PMID:18794286|REF_RGD_ID:4145522
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29329563
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		mRNA:increased expression:airway epithelial cell (human)	PMID:20395558|REF_RGD_ID:4145446
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:3275	thymoma		ISO	RGD:69659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:3454	brain infarction		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum	PMID:18692933|REF_RGD_ID:2313474
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12374626
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:3526	cerebral infarction		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:cerebral cortex	PMID:20083630|REF_RGD_ID:8547724
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		protein:increased expression:lung (rat)	PMID:19254480|REF_RGD_ID:4145516
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:3904	bronchus carcinoma		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased secretion:lung (human)	PMID:18764914|REF_RGD_ID:4145523
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:69659	D	RGD:9068941	20200609	RGD		progression-free survival; protein:increased secretion:serum (human)	PMID:19949019|REF_RGD_ID:4145465
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:418	systemic scleroderma		ISO	RGD:69659	D	RGD:9068941	20200609	RGD			PMID:1371389|PMID:18759276|REF_RGD_ID:8158120|REF_RGD_ID:8547576
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:418	systemic scleroderma	disease_progression	ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:8099861|REF_RGD_ID:8547587
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:4195	hyperglycemia		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; protein:increased expression:cerebral cortex, pyramidal layer (rat)	PMID:20495289|REF_RGD_ID:4145407
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:4676	uremia		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17347482
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:4724	brain edema		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		associated with Reperfusion Injury; protein:increased expression:brain (rat)	PMID:20570121|REF_RGD_ID:4145390
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:4989	pancreatitis		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:12923961|REF_RGD_ID:2325163
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:4989	pancreatitis	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:23125085|REF_RGD_ID:8547728
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:2857	D	RGD:9068941	20240125	RGD		associated with chronic intermittent hypoxia; mRNA, protein:increased expression:liver (rat)	PMID:32626927|REF_RGD_ID:401959337
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:5082	liver cirrhosis	susceptibility	ISO	RGD:69659	D	RGD:9068941	20200609	RGD		associated with Hepatitis B, Chronic;DNA:missense mutations, haplotype:cds:p.G241R, p.K469E (human)	PMID:18233990|REF_RGD_ID:14402042
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:5199	ureteral obstruction		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		protein:increased expression:renal endothelium, epithelium, interstitium	PMID:10930117|REF_RGD_ID:11522713
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:552	pneumonia	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD		associated with Reperfusion Injury	PMID:22882462|REF_RGD_ID:8547727
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:5679	retinal disease		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19324842
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:574	peripheral nervous system disease		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21245421
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:576	proteinuria		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		associated with Hypertension;mRNA, protein:increased expression:kidney	PMID:22681549|REF_RGD_ID:8547734
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:5844	myocardial infarction		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10070497
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:23139358|REF_RGD_ID:8547733
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		associated with Heart Defects, Congenital;protein:increased secretion:serum (human)	PMID:21034646|REF_RGD_ID:4145436
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:26109813|REF_RGD_ID:11056752
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:783	end stage renal disease		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney (rat)	PMID:20820841|REF_RGD_ID:4145364
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:820	myocarditis		ISO	RGD:10756	D	RGD:9068941	20200609	RGD			PMID:22268115|REF_RGD_ID:13702908
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:820	myocarditis		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:9556870|REF_RGD_ID:13702915
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:8472	localized scleroderma		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:7916356|REF_RGD_ID:8158116
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:8481	rheumatic myocarditis	severity	ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22987107|REF_RGD_ID:13702907
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:8506	bullous pemphigoid		ISO	RGD:69659	D	RGD:9068941	20200609	RGD			PMID:1377725|REF_RGD_ID:8547591
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:8549	chronic ulcer of skin		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		associated with Scleroderma, Systemic;protein:increased expression:blood	PMID:8099861|REF_RGD_ID:8547587
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7621881|PMID:8656679
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:7686390|REF_RGD_ID:11520780
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		mRNA:increased expression:substantia nigra (rat)	PMID:20584104|REF_RGD_ID:4145388
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15553846
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:874	bacterial pneumonia		ISO	RGD:10756	D	RGD:9068941	20200609	RGD		protein:increased expression:lung (mouse)	PMID:19846873|REF_RGD_ID:4145490
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:8778	Crohn's disease		ISO	RGD:69659	D	RGD:9068941	20200609	RGD			PMID:15638228|REF_RGD_ID:1625756
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:8893	psoriasis	severity	ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:8094011|REF_RGD_ID:8547688
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:8893	psoriasis	treatment	ISO	RGD:69659	D	RGD:9068941	20200609	RGD			PMID:16181457|PMID:2015706|REF_RGD_ID:8158118|REF_RGD_ID:8547579
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:8923	skin melanoma	disease_progression	ISO	RGD:69659	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.R241G (human)	PMID:16313300|REF_RGD_ID:8547698
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10485912
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:69659	D	RGD:9068941	20200609	RGD			PMID:18834676|REF_RGD_ID:2313472
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K469E (human)	PMID:18942221|REF_RGD_ID:2313471
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:8947	diabetic retinopathy	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:25066112|REF_RGD_ID:11354984
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:8627308|REF_RGD_ID:11522712
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms	PMID:21590495|REF_RGD_ID:8547712
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:2857	D	RGD:9068941	20220623	RGD			PMID:10092309|PMID:29572553|REF_RGD_ID:11522714|REF_RGD_ID:152995414
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9000288	Chronic Intermittent Hypoxia		ISO	RGD:2857	D	RGD:9068941	20240125	RGD		mRNA, protein:increased expression:liver (rat)	PMID:32626927|REF_RGD_ID:401959337
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9000310	Lung Injury	treatment	ISO	RGD:10756	D	RGD:9068941	20200609	RGD		associated with Bacteremia;	PMID:24891762|REF_RGD_ID:11354979
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (rat)	PMID:20731855|REF_RGD_ID:4145368
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9000469	Viral Myocarditis		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:11156888|REF_RGD_ID:13702912
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9000469	Viral Myocarditis	treatment	ISO	RGD:10756	D	RGD:9068941	20200609	RGD			PMID:11092674|REF_RGD_ID:13702913
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9000656	Penetrating Wounds		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		mRNA:increased expression:granulation tissue (rat)	PMID:20638379|REF_RGD_ID:4145377
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9000722	Animal Hepatitis	treatment	ISO	RGD:10756	D	RGD:9068941	20200609	RGD			PMID:21695461|REF_RGD_ID:14402037
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17014439
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9000774	Brain Death		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (rat)	PMID:20810760|REF_RGD_ID:4145365
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9000784	Fibrosis		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:pancreas	PMID:22844569|REF_RGD_ID:8547732
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14602771
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		associated with Melanoma, Cutaneous Malignant	PMID:10465581|REF_RGD_ID:8547593
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		associated with Pancreatic Neoplasms;protein:increased expression:serum	PMID:12923961|REF_RGD_ID:2325163
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:16230799|REF_RGD_ID:11522716
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina, choroid, sclera (rat)	PMID:20497436|REF_RGD_ID:4145405
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9001472	Nasal Polyps		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal cavity epithelium	PMID:11593541|REF_RGD_ID:8547687
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21192278
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:10756	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung (mouse)	PMID:19828841|REF_RGD_ID:4145497
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21192278
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:15007035|REF_RGD_ID:8547707
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9001725	Retina Reperfusion Injury	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:10235552|REF_RGD_ID:8547704
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		associated with Intestinal Reperfusion Injury;protein:increased expression:liver	PMID:8780571|REF_RGD_ID:14402044
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:7884306|REF_RGD_ID:11520784
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:10756	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney (mouse)	PMID:20447389|REF_RGD_ID:4145414
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:19246972|REF_RGD_ID:2313470
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP: :p.K469E (rs5498) (human)	PMID:18505543|REF_RGD_ID:2313475
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma	PMID:18299691|REF_RGD_ID:2312766
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	severity	ISO	RGD:69659	D	RGD:9068941	20200609	RGD			PMID:7658704|REF_RGD_ID:11354983
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:7686390|REF_RGD_ID:11520780
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16606632
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9002311	Experimental Autoimmune Myocarditis	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:11701617|REF_RGD_ID:13702911
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9002605	Delayed Hypersensitivity		ISO	RGD:10756	D	RGD:9068941	20200609	RGD			PMID:8093459|REF_RGD_ID:8547692
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9002906	Multiple Organ Failure		ISO	RGD:10756	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas, intestine (mouse)	PMID:19819333|REF_RGD_ID:4145501
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9002906	Multiple Organ Failure		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (rat)	PMID:20646933|REF_RGD_ID:4145375
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:19213042|REF_RGD_ID:8547577
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16497620|PMID:7902311
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9003657	Perennial Allergic Rhinitis		ISO	RGD:10756	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, endothelium (mouse)	PMID:19968652|REF_RGD_ID:4145464
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9003657	Perennial Allergic Rhinitis		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased secretion:nasopharynx (human)	PMID:19047814|REF_RGD_ID:4145520
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9003709	Mercury Poisoning		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (rat)	PMID:20508868|REF_RGD_ID:4145621
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11557319|PMID:23743330
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9004484	Sepsis		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain (rat)	PMID:20451670|REF_RGD_ID:4145409
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17973899|PMID:27525872
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:2857	D	RGD:9068941	20260219	RGD			PMID:20569121|PMID:31693211|REF_RGD_ID:632522751|REF_RGD_ID:8547719
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9004898	Jaundice		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		protein:increased expression:lung (rat)	PMID:19034056|REF_RGD_ID:4145521
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9005036	Bacteremia		ISO	RGD:10756	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung,thymus,spleen:	PMID:24891762|REF_RGD_ID:11354979
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9005372	Inflammation		ISO	RGD:10756	D	RGD:9068941	20200609	RGD		associated with Sjogren's Syndrome	PMID:15037117|REF_RGD_ID:8547696
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9005372	Inflammation		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:kidney (rat)	PMID:20980457|REF_RGD_ID:4145328
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9005372	Inflammation		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19324842|PMID:23371441
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9005372	Inflammation	treatment	ISO	RGD:10756	D	RGD:9068941	20200609	RGD		associated with myocardial infarction	PMID:21658725|REF_RGD_ID:13702909
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9005372	Inflammation	treatment	ISO	RGD:2857	D	RGD:9068941	20200626	RGD			PMID:20600813|REF_RGD_ID:4145532
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9005396	Intimal Hyperplasia	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:9118520|REF_RGD_ID:11520787
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:10756	D	RGD:9068941	20200609	RGD		mRNA:increased expression:aorta	PMID:18093596|REF_RGD_ID:2306988
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18413153|REF_RGD_ID:2306987
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14871415|PMID:20388520|PMID:24513509
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:20136425|REF_RGD_ID:8547703
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9005647	Experimental Autoimmune Uveitis	treatment	ISO	RGD:10756	D	RGD:9068941	20200609	RGD			PMID:8100190|REF_RGD_ID:8158117
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		protein:increased expression:lung (rat)	PMID:19776691|REF_RGD_ID:4145502
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		mRNA:increased expression:carotid artery (rat)	PMID:20368503|REF_RGD_ID:4145429
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9006642	Experimental Autoimmune Uveoretinitis	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:7909311|REF_RGD_ID:8547706
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19394054|REF_RGD_ID:2313467
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9006709	Primary Graft Dysfunction	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:10666412|PMID:22617707|REF_RGD_ID:11520779|REF_RGD_ID:8547722
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9006827	Lung Reperfusion Injury	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:22503847|REF_RGD_ID:7240537
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9006966	Pseudomonas Aeruginosa Keratitis		ISO	RGD:10756	D	RGD:9068941	20200609	RGD			PMID:9916118|REF_RGD_ID:8547701
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9007156	Enteritis		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		mRNA:increased expression:intestinal mucosa (rat)	PMID:20885979|REF_RGD_ID:4145336
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9007355	Hashimoto Disease		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:7626551|REF_RGD_ID:8547592
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24069166
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:10756	D	RGD:9068941	20200609	RGD			PMID:29091898|REF_RGD_ID:15090820
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:29091898|REF_RGD_ID:15090820
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9007480	Hyperoxia		ISO	RGD:10756	D	RGD:9068941	20200609	RGD		protein:increased expression:lung (mouse)	PMID:20237791|REF_RGD_ID:4145449
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9007558	Acute Experimental Pancreatitis	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:10201790|PMID:23706497|REF_RGD_ID:10402063|REF_RGD_ID:11520782
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9007651	Chronic Bronchitis		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		protein:increased expression:bronchial epithelium (rat)	PMID:19507274|REF_RGD_ID:2308951
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		associated with Obesity;protein:increased secretion:plasma (human)	PMID:11782876|REF_RGD_ID:1625753
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19394054|REF_RGD_ID:2313467
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9007755	Intestinal Reperfusion Injury		ISO	RGD:2857	D	RGD:9068941	20200609	RGD			PMID:12095141|REF_RGD_ID:11522715
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9007755	Intestinal Reperfusion Injury	treatment	ISO	RGD:2857	D	RGD:9068941	20230824	RGD			PMID:22079846|REF_RGD_ID:401794136
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		protein:increased expression:heart (rat)	PMID:20851484|REF_RGD_ID:4145348
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12087064
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9008103	Seasonal Allergic Rhinitis		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased secretion:nasopharynx, secretion (human)	PMID:20128420|REF_RGD_ID:4145459
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9008691	Liver Injury	treatment	ISO	RGD:2857	D	RGD:9068941	20200609	RGD		associated with acute pancreatitis	PMID:26586701|REF_RGD_ID:14402036
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12759764|PMID:17245593
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9009184	Eosinophilic Myocarditis	treatment	ISO	RGD:10756	D	RGD:9068941	20200609	RGD			PMID:9822282|REF_RGD_ID:13702914
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9009185	Lymphocytic Myocarditis		ISO	RGD:69659	D	RGD:9068941	20200609	RGD			PMID:9205546|REF_RGD_ID:13703027
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		protein:increased expression:descending aorta, endothelial cells (rat)	PMID:20871618|REF_RGD_ID:4144131
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19394054|REF_RGD_ID:2313467
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:aorta (rat)	PMID:20388520|REF_RGD_ID:4145422
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24513509
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:18299691|REF_RGD_ID:2312766
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9383	iridocyclitis		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:p.R241G (human)	PMID:20445114|REF_RGD_ID:8547694
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9538	multiple myeloma		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:7686390|REF_RGD_ID:11520780
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9538	multiple myeloma	treatment	ISO	RGD:69659	D	RGD:9068941	20200609	RGD			PMID:7834632|REF_RGD_ID:11354981
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9563	bronchiectasis		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17931847
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9719	neovascular inflammatory vitreoretinopathy		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		associated with Retinal Detachment;protein:increased expression:vitreous humor	PMID:10413701|REF_RGD_ID:8547581
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19373518|REF_RGD_ID:2313468
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	ISO	RGD:69659	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:16978373|REF_RGD_ID:1625758
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9970	obesity		ISO	RGD:2857	D	RGD:9068941	20200609	RGD		protein:increased expression:submandibular gland (rat)	PMID:20973827|REF_RGD_ID:4145329
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9970	obesity		ISO	RGD:69659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11782876
8709730	Icam1	intercellular adhesion molecule 1	gene	DOID:9970	obesity		ISO	RGD:69659	D	RGD:9068941	20200609	RGD		protein:increased secretion:plasma (human)	PMID:20004360|REF_RGD_ID:4145463
8709744	Nme5	NME/NM23 family member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8709744	Nme5	NME/NM23 family member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8709744	Nme5	NME/NM23 family member 5	gene	DOID:0060058	lymphoma		ISO	RGD:1343010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8709744	Nme5	NME/NM23 family member 5	gene	DOID:0070761	primary ciliary dyskinesia 48		ISO	RGD:1343010	D	RGD:7240710	20220921	OMIM			
8709744	Nme5	NME/NM23 family member 5	gene	DOID:0070761	primary ciliary dyskinesia 48		ISO	RGD:1343010	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 48, without situs inversus	PMID:25741868
8709744	Nme5	NME/NM23 family member 5	gene	DOID:10908	hydrocephalus		ISO	RGD:1623132	D	RGD:9068941	20220825	MouseDO		OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219	
8709744	Nme5	NME/NM23 family member 5	gene	DOID:1115	sarcoma		ISO	RGD:1343010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8709744	Nme5	NME/NM23 family member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709744	Nme5	NME/NM23 family member 5	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1343010	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:0060135	apraxia		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apraxia | ClinVar Annotator: match by term: apraxia	PMID:25741868|PMID:34113008
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1348298	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:25741868|PMID:34113008
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:10907	microcephaly		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:11782	astigmatism		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:34113008
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:12995	conduct disorder		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Behavior disorder	PMID:25741868|PMID:34113008
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:1826	epilepsy		ISO	RGD:1348298	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: epilepsy	PMID:25741868|PMID:34113008
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:1909	melanoma		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1348298	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348298	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:540	strabismus		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:34113008
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:630	genetic disease		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:34113008
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9000495	Tremor		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868|PMID:34113008
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9000526	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities	PMID:25741868
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9001031	Retrognathia		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9001722	Dysarthria		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:34113008
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348298	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:31678406|PMID:34113008|PMID:35782386
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:34113008
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9004866	Ataxia		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:34113008
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:34113008
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348298	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348298	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Global developmental delay | ClinVar Annotator: match by term: global developmental delay	PMID:25741868|PMID:34113008
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9008567	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES		ISO	RGD:1348298	D	RGD:7240710	20221207	OMIM			
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9008567	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES		ISO	RGD:1348298	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARFGEF1-related condition | ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | ClinVar Annotator: match by term: developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	PMID:17640864|PMID:25741868|PMID:34113008
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1348298	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8709757	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9834	hyperopia		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:34113008
8709808	Usp19	ubiquitin specific peptidase 19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8709808	Usp19	ubiquitin specific peptidase 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8709808	Usp19	ubiquitin specific peptidase 19	gene	DOID:10534	stomach cancer		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8709808	Usp19	ubiquitin specific peptidase 19	gene	DOID:1827	generalized epilepsy		ISO	RGD:1344113	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	
8709808	Usp19	ubiquitin specific peptidase 19	gene	DOID:1909	melanoma		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8709808	Usp19	ubiquitin specific peptidase 19	gene	DOID:2843	long QT syndrome		ISO	RGD:1344113	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8709808	Usp19	ubiquitin specific peptidase 19	gene	DOID:3070	high grade glioma		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8709808	Usp19	ubiquitin specific peptidase 19	gene	DOID:3275	thymoma		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8709808	Usp19	ubiquitin specific peptidase 19	gene	DOID:4362	cervical cancer		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8709808	Usp19	ubiquitin specific peptidase 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1344113	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8709808	Usp19	ubiquitin specific peptidase 19	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8709808	Usp19	ubiquitin specific peptidase 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709808	Usp19	ubiquitin specific peptidase 19	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8709808	Usp19	ubiquitin specific peptidase 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8709808	Usp19	ubiquitin specific peptidase 19	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8709846	Nudt16	nudix hydrolase 16	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8709846	Nudt16	nudix hydrolase 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347227	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8709846	Nudt16	nudix hydrolase 16	gene	DOID:0080600	COVID-19		ISO	RGD:1347227	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8709846	Nudt16	nudix hydrolase 16	gene	DOID:3275	thymoma		ISO	RGD:1347227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8709846	Nudt16	nudix hydrolase 16	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8709846	Nudt16	nudix hydrolase 16	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1347227	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8709846	Nudt16	nudix hydrolase 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8709846	Nudt16	nudix hydrolase 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8709854	Ptk6	protein tyrosine kinase 6	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1319246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
8709854	Ptk6	protein tyrosine kinase 6	gene	DOID:10126	keratoconus		ISO	RGD:1319246	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Keratoconus	
8709854	Ptk6	protein tyrosine kinase 6	gene	DOID:1115	sarcoma		ISO	RGD:1319246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8709854	Ptk6	protein tyrosine kinase 6	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1319246	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
8709854	Ptk6	protein tyrosine kinase 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8709854	Ptk6	protein tyrosine kinase 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8709854	Ptk6	protein tyrosine kinase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709854	Ptk6	protein tyrosine kinase 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8709873	Borcs7	BLOC-1 related complex subunit 7	gene	DOID:2367	neuroaxonal dystrophy		ISO	RGD:1623226	D	RGD:9068941	20220825	MouseDO			
8709873	Borcs7	BLOC-1 related complex subunit 7	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1623226	D	RGD:9068941	20220825	MouseDO			
8709873	Borcs7	BLOC-1 related complex subunit 7	gene	DOID:5419	schizophrenia		ISO	RGD:1323417	D	RGD:9068941	20220707	CTD		CTD Direct Evidence: marker/mechanism	PMID:27158905
8709893	Fxyd5	FXYD domain containing ion transport regulator 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8709893	Fxyd5	FXYD domain containing ion transport regulator 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8709893	Fxyd5	FXYD domain containing ion transport regulator 5	gene	DOID:3275	thymoma		ISO	RGD:1605677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8709893	Fxyd5	FXYD domain containing ion transport regulator 5	gene	DOID:4362	cervical cancer		ISO	RGD:1605677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8709893	Fxyd5	FXYD domain containing ion transport regulator 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8709893	Fxyd5	FXYD domain containing ion transport regulator 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709893	Fxyd5	FXYD domain containing ion transport regulator 5	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1605677	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8709893	Fxyd5	FXYD domain containing ion transport regulator 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8709907	Ccdc50	coiled-coil domain containing 50	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8709907	Ccdc50	coiled-coil domain containing 50	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1606954	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Non-syndromic genetic deafness	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8709907	Ccdc50	coiled-coil domain containing 50	gene	DOID:0050746	mantle cell lymphoma		ISO	RGD:1606954	D	RGD:9068941	20200609	RGD			PMID:19641524|REF_RGD_ID:9685139
8709907	Ccdc50	coiled-coil domain containing 50	gene	DOID:0060058	lymphoma		ISO	RGD:1606954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8709907	Ccdc50	coiled-coil domain containing 50	gene	DOID:0110569	autosomal dominant nonsyndromic deafness 44		ISO	RGD:1606954	D	RGD:7240710	20180130	OMIM			
8709907	Ccdc50	coiled-coil domain containing 50	gene	DOID:0110569	autosomal dominant nonsyndromic deafness 44		ISO	RGD:1606954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 44 | ClinVar Annotator: match by term: CCDC50-related condition	PMID:12483295|PMID:17503326|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386
8709907	Ccdc50	coiled-coil domain containing 50	gene	DOID:10534	stomach cancer		ISO	RGD:1606954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8709907	Ccdc50	coiled-coil domain containing 50	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8709907	Ccdc50	coiled-coil domain containing 50	gene	DOID:1115	sarcoma		ISO	RGD:1606954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8709907	Ccdc50	coiled-coil domain containing 50	gene	DOID:2394	ovarian cancer		ISO	RGD:1606954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8709907	Ccdc50	coiled-coil domain containing 50	gene	DOID:3275	thymoma		ISO	RGD:1606954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8709907	Ccdc50	coiled-coil domain containing 50	gene	DOID:4362	cervical cancer		ISO	RGD:1606954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8709907	Ccdc50	coiled-coil domain containing 50	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8709907	Ccdc50	coiled-coil domain containing 50	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8709907	Ccdc50	coiled-coil domain containing 50	gene	DOID:5041	esophageal cancer		ISO	RGD:1606954	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8709907	Ccdc50	coiled-coil domain containing 50	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8709907	Ccdc50	coiled-coil domain containing 50	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8709907	Ccdc50	coiled-coil domain containing 50	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
8709907	Ccdc50	coiled-coil domain containing 50	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1606954	D	RGD:9068941	20200609	RGD			PMID:19641524|REF_RGD_ID:9685139
8709907	Ccdc50	coiled-coil domain containing 50	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8709907	Ccdc50	coiled-coil domain containing 50	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8709936	Ube2d2	ubiquitin conjugating enzyme E2 D2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:69475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8709936	Ube2d2	ubiquitin conjugating enzyme E2 D2	gene	DOID:10534	stomach cancer		ISO	RGD:69475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8709936	Ube2d2	ubiquitin conjugating enzyme E2 D2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:69475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8709936	Ube2d2	ubiquitin conjugating enzyme E2 D2	gene	DOID:3070	high grade glioma		ISO	RGD:69475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8709936	Ube2d2	ubiquitin conjugating enzyme E2 D2	gene	DOID:4362	cervical cancer		ISO	RGD:69475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8709936	Ube2d2	ubiquitin conjugating enzyme E2 D2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:69475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8709936	Ube2d2	ubiquitin conjugating enzyme E2 D2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709936	Ube2d2	ubiquitin conjugating enzyme E2 D2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8709936	Ube2d2	ubiquitin conjugating enzyme E2 D2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
8709936	Ube2d2	ubiquitin conjugating enzyme E2 D2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8709971	Itm2b	integral membrane protein 2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8709971	Itm2b	integral membrane protein 2B	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1353059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
8709971	Itm2b	integral membrane protein 2B	gene	DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1		ISO	RGD:1353059	D	RGD:7240710	20180130	OMIM			
8709971	Itm2b	integral membrane protein 2B	gene	DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1		ISO	RGD:1353059	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEMENTIA, FAMILIAL BRITISH	
8709971	Itm2b	integral membrane protein 2B	gene	DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2		ISO	RGD:1353059	D	RGD:7240710	20180130	OMIM			
8709971	Itm2b	integral membrane protein 2B	gene	DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2		ISO	RGD:1353059	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEMENTIA, FAMILIAL DANISH	
8709971	Itm2b	integral membrane protein 2B	gene	DOID:10763	hypertension		ISO	RGD:1353059	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22228705
8709971	Itm2b	integral membrane protein 2B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8709971	Itm2b	integral membrane protein 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1353059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8709971	Itm2b	integral membrane protein 2B	gene	DOID:5723	optic atrophy		ISO	RGD:1353059	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8709971	Itm2b	integral membrane protein 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709971	Itm2b	integral membrane protein 2B	gene	DOID:630	genetic disease		ISO	RGD:1353059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8709971	Itm2b	integral membrane protein 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8709971	Itm2b	integral membrane protein 2B	gene	DOID:768	retinoblastoma		ISO	RGD:1353059	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma	PMID:12541220|PMID:14722923|PMID:15877282|PMID:17096365|PMID:17301081|PMID:22180099|PMID:26475597|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255
8709971	Itm2b	integral membrane protein 2B	gene	DOID:8725	vascular dementia		ISO	RGD:1353059	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:33268848
8709971	Itm2b	integral membrane protein 2B	gene	DOID:9004745	RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES		ISO	RGD:1353059	D	RGD:7240710	20180130	OMIM			
8709971	Itm2b	integral membrane protein 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8709971	Itm2b	integral membrane protein 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8709971	Itm2b	integral membrane protein 2B	gene	DOID:9246	cerebral amyloid angiopathy		ISO	RGD:1557698	D	RGD:9068941	20220825	MouseDO			
8709980	Tmem269	transmembrane protein 269	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:11563379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8709980	Tmem269	transmembrane protein 269	gene	DOID:4362	cervical cancer		ISO	RGD:11563379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8709980	Tmem269	transmembrane protein 269	gene	DOID:5041	esophageal cancer		ISO	RGD:11563379	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8709980	Tmem269	transmembrane protein 269	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:11563379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8709980	Tmem269	transmembrane protein 269	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:11563379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8710031	Mob3c	MOB kinase activator 3C	gene	DOID:10534	stomach cancer		ISO	RGD:1317238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8710031	Mob3c	MOB kinase activator 3C	gene	DOID:1909	melanoma		ISO	RGD:1317238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8710039	Smyd5	SMYD family member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8710039	Smyd5	SMYD family member 5	gene	DOID:0060058	lymphoma		ISO	RGD:1319335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8710039	Smyd5	SMYD family member 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8710039	Smyd5	SMYD family member 5	gene	DOID:1115	sarcoma		ISO	RGD:1319335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8710039	Smyd5	SMYD family member 5	gene	DOID:1909	melanoma		ISO	RGD:1319335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8710039	Smyd5	SMYD family member 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8710039	Smyd5	SMYD family member 5	gene	DOID:4362	cervical cancer		ISO	RGD:1319335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8710039	Smyd5	SMYD family member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710039	Smyd5	SMYD family member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710039	Smyd5	SMYD family member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8710039	Smyd5	SMYD family member 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:0060001	withdrawal disorder		ISO	RGD:62037	D	RGD:9068941	20231214	RGD		associated with morphine dependence;protein:increased expression:brain (rat)	PMID:19262551|REF_RGD_ID:401938601
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:0060001	withdrawal disorder		ISO	RGD:62329	D	RGD:9068941	20240127	RGD		associated with morphine dependence; mRNA,protein:increased expression:brain (mouse)	PMID:27730515|REF_RGD_ID:401959609
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:10652	Alzheimer's disease		ISO	RGD:730952	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18503570
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:10914	amnestic disorder	treatment	ISO	RGD:62329	D	RGD:9068941	20231214	RGD			PMID:24012642|REF_RGD_ID:401938610
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:1574	alcohol use disorder		ISO	RGD:62329	D	RGD:9068941	20240127	RGD		associated with Prenatal Exposure Delayed Effects and anxiety disorder:DNA:Hypermthylation:promoter	PMID:30016666|REF_RGD_ID:401959614
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:2030	anxiety disorder	ameliorates	ISO	RGD:62037	D	RGD:9068941	20231221	RGD		associated with alcohol dependence	PMID:24103311|REF_RGD_ID:401938663
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:2030	anxiety disorder	ameliorates	ISO	RGD:62037	D	RGD:9068941	20231221	RGD		associated with alcohol use disorder	PMID:18322102|PMID:21182574|PMID:25814047|REF_RGD_ID:401938616|REF_RGD_ID:401938648|REF_RGD_ID:401938652
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:2560	morphine dependence	ameliorates	ISO	RGD:62037	D	RGD:9068941	20231214	RGD			PMID:21549764|PMID:25746394|REF_RGD_ID:11087075|REF_RGD_ID:401851922
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:3275	thymoma		ISO	RGD:730952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:62037	D	RGD:9068941	20200609	RGD			PMID:22645329|REF_RGD_ID:10395314
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:730952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:480	movement disease		ISO	RGD:730952	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20298714
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:5041	esophageal cancer		ISO	RGD:730952	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:670	amphetamine abuse	disease_progression	ISO	RGD:62329	D	RGD:9068941	20231214	RGD		mRNA:increased expression:brain (mouse)	PMID:25959066|REF_RGD_ID:401938592
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:9000499	Alcoholic Intoxication	disease_progression	ISO	RGD:62329	D	RGD:9068941	20231214	RGD		mRNA:altered expression:brain (mouse)	PMID:26708208|REF_RGD_ID:401853772
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:9001733	Tinnitus		ISO	RGD:62037	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:auditory cortex:	PMID:18524887|REF_RGD_ID:8655535
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:62037	D	RGD:9068941	20200609	RGD			PMID:17275194|REF_RGD_ID:8655559
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:9004538	Hearing Loss		ISO	RGD:62037	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:auditory cortex:	PMID:18524887|REF_RGD_ID:8655535
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:9004538	Hearing Loss	treatment	ISO	RGD:730952	D	RGD:9068941	20200609	RGD			PMID:18607918|REF_RGD_ID:8655538
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:9005111	morphine withdrawal syndrome	treatment	ISO	RGD:62037	D	RGD:9068941	20240201	RGD			PMID:30550948|REF_RGD_ID:401959617
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:730952	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18311559
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:9007090	Experimental Seizures		ISO	RGD:62037	D	RGD:9068941	20241114	RGD			PMID:23744421|REF_RGD_ID:10395306
8710064	Arc	activity regulated cytoskeleton associated protein	gene	DOID:9975	cocaine dependence		ISO	RGD:62329	D	RGD:9068941	20231214	RGD		protein:increased expression:dorsal striatum, shell of nucleus accumbens (mouse)	PMID:27567310|REF_RGD_ID:401901591
8710071	Ces3	carboxylesterase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8710071	Ces3	carboxylesterase 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:735260	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8710071	Ces3	carboxylesterase 3	gene	DOID:1115	sarcoma		ISO	RGD:735260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8710071	Ces3	carboxylesterase 3	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:735260	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
8710071	Ces3	carboxylesterase 3	gene	DOID:3070	high grade glioma		ISO	RGD:735260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8710071	Ces3	carboxylesterase 3	gene	DOID:4362	cervical cancer		ISO	RGD:735260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8710071	Ces3	carboxylesterase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710071	Ces3	carboxylesterase 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735260	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
8710071	Ces3	carboxylesterase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710071	Ces3	carboxylesterase 3	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:735260	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8710090	Znf236	zinc finger protein 236	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
8710090	Znf236	zinc finger protein 236	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8710090	Znf236	zinc finger protein 236	gene	DOID:10534	stomach cancer		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8710090	Znf236	zinc finger protein 236	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8710090	Znf236	zinc finger protein 236	gene	DOID:1115	sarcoma		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8710090	Znf236	zinc finger protein 236	gene	DOID:1324	lung cancer		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8710090	Znf236	zinc finger protein 236	gene	DOID:1432	blindness		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:25741868
8710090	Znf236	zinc finger protein 236	gene	DOID:1909	melanoma		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8710090	Znf236	zinc finger protein 236	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8710090	Znf236	zinc finger protein 236	gene	DOID:3070	high grade glioma		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8710090	Znf236	zinc finger protein 236	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8710090	Znf236	zinc finger protein 236	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8710090	Znf236	zinc finger protein 236	gene	DOID:5041	esophageal cancer		ISO	RGD:1320136	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8710090	Znf236	zinc finger protein 236	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8710090	Znf236	zinc finger protein 236	gene	DOID:5723	optic atrophy		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8710090	Znf236	zinc finger protein 236	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710090	Znf236	zinc finger protein 236	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8710090	Znf236	zinc finger protein 236	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710090	Znf236	zinc finger protein 236	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8710090	Znf236	zinc finger protein 236	gene	DOID:9256	colorectal cancer		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8710139	Jrk	Jrk helix-turn-helix protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8710139	Jrk	Jrk helix-turn-helix protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8710139	Jrk	Jrk helix-turn-helix protein	gene	DOID:1825	childhood absence epilepsy		ISO	RGD:1314867	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11463517
8710139	Jrk	Jrk helix-turn-helix protein	gene	DOID:1827	generalized epilepsy		ISO	RGD:1314867	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11463517
8710139	Jrk	Jrk helix-turn-helix protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1314867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8710139	Jrk	Jrk helix-turn-helix protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8710139	Jrk	Jrk helix-turn-helix protein	gene	DOID:4890	juvenile myoclonic epilepsy		ISO	RGD:1314867	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11463517
8710139	Jrk	Jrk helix-turn-helix protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8710139	Jrk	Jrk helix-turn-helix protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1314867	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8710139	Jrk	Jrk helix-turn-helix protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710139	Jrk	Jrk helix-turn-helix protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8710139	Jrk	Jrk helix-turn-helix protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710139	Jrk	Jrk helix-turn-helix protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8710157	Crk	CRK proto-oncogene, adaptor protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8710157	Crk	CRK proto-oncogene, adaptor protein	gene	DOID:3275	thymoma		ISO	RGD:736380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8710157	Crk	CRK proto-oncogene, adaptor protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:736380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8710157	Crk	CRK proto-oncogene, adaptor protein	gene	DOID:4362	cervical cancer		ISO	RGD:736380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8710157	Crk	CRK proto-oncogene, adaptor protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710157	Crk	CRK proto-oncogene, adaptor protein	gene	DOID:90	degenerative disc disease	treatment	ISO	RGD:2405	D	RGD:9068941	20200609	RGD			PMID:23055810|REF_RGD_ID:11568070
8710157	Crk	CRK proto-oncogene, adaptor protein	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:736380	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8710178	Dlk1	delta like non-canonical Notch ligand 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:732542	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18575777
8710178	Dlk1	delta like non-canonical Notch ligand 1	gene	DOID:0112308	central precocious puberty		ISO	RGD:732542	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Central precocious puberty	
8710178	Dlk1	delta like non-canonical Notch ligand 1	gene	DOID:13608	biliary atresia		ISO	RGD:732542	D	RGD:9068941	20200609	RGD			PMID:14743499|REF_RGD_ID:1625622
8710178	Dlk1	delta like non-canonical Notch ligand 1	gene	DOID:3070	high grade glioma		ISO	RGD:732542	D	RGD:9068941	20200609	RGD			PMID:16288219|REF_RGD_ID:1625600
8710178	Dlk1	delta like non-canonical Notch ligand 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710178	Dlk1	delta like non-canonical Notch ligand 1	gene	DOID:630	genetic disease		ISO	RGD:732542	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8710178	Dlk1	delta like non-canonical Notch ligand 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732543	D	RGD:9068941	20210423	RGD		mRNA:increased expression:liver (mouse)	PMID:26569409|REF_RGD_ID:11344640
8710178	Dlk1	delta like non-canonical Notch ligand 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:732542	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27776119
8710178	Dlk1	delta like non-canonical Notch ligand 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:732543	D	RGD:9068941	20211119	RGD			PMID:24676147|REF_RGD_ID:150520045
8710178	Dlk1	delta like non-canonical Notch ligand 1	gene	DOID:9007070	Silver-Russell Syndrome 1		ISO	RGD:732542	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Silver-Russell syndrome 1	
8710213	Pcyox1l	prenylcysteine oxidase 1 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8710213	Pcyox1l	prenylcysteine oxidase 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8710213	Pcyox1l	prenylcysteine oxidase 1 like	gene	DOID:0060058	lymphoma		ISO	RGD:1604601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8710213	Pcyox1l	prenylcysteine oxidase 1 like	gene	DOID:1115	sarcoma		ISO	RGD:1604601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8710213	Pcyox1l	prenylcysteine oxidase 1 like	gene	DOID:1909	melanoma		ISO	RGD:1604601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8710213	Pcyox1l	prenylcysteine oxidase 1 like	gene	DOID:3275	thymoma		ISO	RGD:1604601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8710213	Pcyox1l	prenylcysteine oxidase 1 like	gene	DOID:4362	cervical cancer		ISO	RGD:1604601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8710213	Pcyox1l	prenylcysteine oxidase 1 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8710221	Cnga1	cyclic nucleotide gated channel subunit alpha 1	gene	DOID:0110377	retinitis pigmentosa 49		ISO	RGD:730948	D	RGD:7240710	20180130	OMIM			
8710221	Cnga1	cyclic nucleotide gated channel subunit alpha 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:730948	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:12362048|PMID:16199547|PMID:18310263|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30718709|PMID:31456290|PMID:7479749
8710221	Cnga1	cyclic nucleotide gated channel subunit alpha 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:730948	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:12362048|PMID:16199547|PMID:18310263|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30718709|PMID:31456290|PMID:32037395|PMID:33090715|PMID:33946315|PMID:7479749
8710221	Cnga1	cyclic nucleotide gated channel subunit alpha 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:730948	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:12362048|PMID:16199547|PMID:18310263|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:27391953|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30718709|PMID:31456290|PMID:32037395|PMID:32531858|PMID:33090715|PMID:33946315|PMID:34906470|PMID:7479749
8710221	Cnga1	cyclic nucleotide gated channel subunit alpha 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:730948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	
8710237	Twf2	twinfilin actin binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8710237	Twf2	twinfilin actin binding protein 2	gene	DOID:0080600	COVID-19		ISO	RGD:1312984	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8710237	Twf2	twinfilin actin binding protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8710237	Twf2	twinfilin actin binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312984	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8710237	Twf2	twinfilin actin binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710237	Twf2	twinfilin actin binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710237	Twf2	twinfilin actin binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:0080855	Parkinsonism		ISO	RGD:1315476	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18243799
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:0090048	dystonia 16		ISO	RGD:1315476	D	RGD:7240710	20180130	OMIM			
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:0090048	dystonia 16		ISO	RGD:1315476	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSTONIA 16 | ClinVar Annotator: match by term: Dystonia 16	PMID:24033266|PMID:25737287|PMID:25741868|PMID:28492532
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:10534	stomach cancer		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:1059	intellectual disability		ISO	RGD:1315476	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:1115	sarcoma		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:1324	lung cancer		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:4362	cervical cancer		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315476	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:543	dystonia		ISO	RGD:1315476	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:18243799
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:630	genetic disease		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1315476	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:25554729
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:9002500	Hearing Disorders		ISO	RGD:1315476	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:25554729
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1306707	D	RGD:9068941	20200609	RGD			PMID:21897745|REF_RGD_ID:7777145
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:9005941	Rhinosinusitis	severity	ISO	RGD:1315476	D	RGD:9068941	20200609	RGD		associated with Nasal Polyps	PMID:22961479|REF_RGD_ID:7777146
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1315476	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22194846
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8710259	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:9256	colorectal cancer		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8710272	Ifrd2	interferon related developmental regulator 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8710272	Ifrd2	interferon related developmental regulator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8710272	Ifrd2	interferon related developmental regulator 2	gene	DOID:1115	sarcoma		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8710272	Ifrd2	interferon related developmental regulator 2	gene	DOID:1909	melanoma		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8710272	Ifrd2	interferon related developmental regulator 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8710272	Ifrd2	interferon related developmental regulator 2	gene	DOID:3070	high grade glioma		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8710272	Ifrd2	interferon related developmental regulator 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8710272	Ifrd2	interferon related developmental regulator 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320999	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8710272	Ifrd2	interferon related developmental regulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710272	Ifrd2	interferon related developmental regulator 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8710272	Ifrd2	interferon related developmental regulator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710293	Creg2	cellular repressor of E1A stimulated genes 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8710293	Creg2	cellular repressor of E1A stimulated genes 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710300	Vti1a	vesicle transport through interaction with t-SNAREs 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8710300	Vti1a	vesicle transport through interaction with t-SNAREs 1A	gene	DOID:1115	sarcoma		ISO	RGD:736863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8710300	Vti1a	vesicle transport through interaction with t-SNAREs 1A	gene	DOID:1612	breast cancer		ISO	RGD:736863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
8710300	Vti1a	vesicle transport through interaction with t-SNAREs 1A	gene	DOID:299	adenocarcinoma		ISO	RGD:736863	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21892161
8710300	Vti1a	vesicle transport through interaction with t-SNAREs 1A	gene	DOID:4362	cervical cancer		ISO	RGD:736863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8710300	Vti1a	vesicle transport through interaction with t-SNAREs 1A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8710300	Vti1a	vesicle transport through interaction with t-SNAREs 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:736863	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8710300	Vti1a	vesicle transport through interaction with t-SNAREs 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710300	Vti1a	vesicle transport through interaction with t-SNAREs 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710300	Vti1a	vesicle transport through interaction with t-SNAREs 1A	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:736863	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21892161
8710300	Vti1a	vesicle transport through interaction with t-SNAREs 1A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8710333	Klhl38	kelch like family member 38	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2300033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8710333	Klhl38	kelch like family member 38	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2300033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8710333	Klhl38	kelch like family member 38	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2300033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:0080379	nephrotic syndrome type 2		ISO	RGD:1606000	D	RGD:9068941	20200609	RGD		DNA:mutations: :	PMID:20591883|REF_RGD_ID:7257521
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:0080382	nephrotic syndrome type 3		ISO	RGD:1606000	D	RGD:7240710	20180130	OMIM			
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:0080382	nephrotic syndrome type 3		ISO	RGD:1606000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3 | ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Nephrotic syndrome, type 3 | ClinVar Annotator: match by term: PLCE1-related condition	PMID:16199547|PMID:17086182|PMID:18065803|PMID:18709391|PMID:18975016|PMID:20507940|PMID:20591883|PMID:22865593|PMID:24500309|PMID:24902943|PMID:25741868|PMID:26467025|PMID:27766458|PMID:28204945|PMID:28492532|PMID:31308072|PMID:31319225|PMID:35497790|PMID:36413997|PMID:36743378|PMID:37204080
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:0080390	nephrotic syndrome type 1		ISO	RGD:1606000	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome	PMID:25741868
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:18975016|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31308072|PMID:36743378
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:0111365	benign familial hematuria		ISO	RGD:1606000	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microscopic hematuria	PMID:25741868
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:1115	sarcoma		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:25741868|PMID:29127259
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:1184	nephrotic syndrome	onset	ISO	RGD:1606000	D	RGD:9068941	20200609	RGD		DNA:mutations: :	PMID:17086182|REF_RGD_ID:7257519
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:12206	dengue hemorrhagic fever		ISO	RGD:1606000	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22001756
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:18975016|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31308072|PMID:36743378
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:1909	melanoma		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:2921	glomerulonephritis		ISO	RGD:1606000	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Glomerulonephritis	PMID:25741868
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:299	adenocarcinoma		ISO	RGD:1606000	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20729852
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:3717	gastric adenocarcinoma	ameliorates	ISO	RGD:1606000	D	RGD:9068941	20220415	RGD		human cells in a mouse model	PMID:24796667|REF_RGD_ID:151708719
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1606000	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20729852|PMID:20729853
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:557	kidney disease		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:20591883|PMID:22865593|PMID:25741868|PMID:26467025|PMID:28492532
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:630	genetic disease		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:36413997
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1606000	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20729852
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:9008897	Diffuse Mesangial Sclerosis		ISO	RGD:1606000	D	RGD:9068941	20200609	RGD		DNA:mutations: :	PMID:18065803|REF_RGD_ID:7257520
8710348	Plce1	phospholipase C epsilon 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8710397	Chrdl2	chordin like 2	gene	DOID:1115	sarcoma		ISO	RGD:1314650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8710397	Chrdl2	chordin like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8710397	Chrdl2	chordin like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8710397	Chrdl2	chordin like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710397	Chrdl2	chordin like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8710415	Ica1l	islet cell autoantigen 1 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8710415	Ica1l	islet cell autoantigen 1 like	gene	DOID:10534	stomach cancer		ISO	RGD:1346474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8710415	Ica1l	islet cell autoantigen 1 like	gene	DOID:1115	sarcoma		ISO	RGD:1346474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8710415	Ica1l	islet cell autoantigen 1 like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8710415	Ica1l	islet cell autoantigen 1 like	gene	DOID:2394	ovarian cancer		ISO	RGD:1346474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8710415	Ica1l	islet cell autoantigen 1 like	gene	DOID:3393	coronary artery disease		ISO	RGD:1346474	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:34961328
8710415	Ica1l	islet cell autoantigen 1 like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8710415	Ica1l	islet cell autoantigen 1 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1346474	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8710415	Ica1l	islet cell autoantigen 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710415	Ica1l	islet cell autoantigen 1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710451	Skic2	SKI2 subunit of superkiller complex	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8710451	Skic2	SKI2 subunit of superkiller complex	gene	DOID:0111414	trichohepatoenteric syndrome		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trichohepatoenteric syndrome	PMID:16199547|PMID:22444670|PMID:28492532
8710451	Skic2	SKI2 subunit of superkiller complex	gene	DOID:0111416	trichohepatoenteric syndrome 2		ISO	RGD:1351044	D	RGD:7240710	20180130	OMIM			
8710451	Skic2	SKI2 subunit of superkiller complex	gene	DOID:0111416	trichohepatoenteric syndrome 2		ISO	RGD:1351044	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SKIC2-related condition | ClinVar Annotator: match by term: TRICHOHEPATOENTERIC SYNDROME 2 | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2 | ClinVar Annotator: match by term: trichohepatoenteric syndrome 2	PMID:16199547|PMID:22444670|PMID:24033266|PMID:25741868|PMID:27050310|PMID:27431780|PMID:28492532|PMID:28496993|PMID:29527791|PMID:31681265|PMID:32313153|PMID:32963807|PMID:33114497|PMID:33249554|PMID:34414925|PMID:35607352
8710451	Skic2	SKI2 subunit of superkiller complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8710451	Skic2	SKI2 subunit of superkiller complex	gene	DOID:1115	sarcoma		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8710451	Skic2	SKI2 subunit of superkiller complex	gene	DOID:1324	lung cancer		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8710451	Skic2	SKI2 subunit of superkiller complex	gene	DOID:3275	thymoma		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8710451	Skic2	SKI2 subunit of superkiller complex	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8710451	Skic2	SKI2 subunit of superkiller complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710451	Skic2	SKI2 subunit of superkiller complex	gene	DOID:6039	uveal melanoma		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:24033266|PMID:25741868|PMID:28492532
8710451	Skic2	SKI2 subunit of superkiller complex	gene	DOID:630	genetic disease		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8710451	Skic2	SKI2 subunit of superkiller complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
8710451	Skic2	SKI2 subunit of superkiller complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710483	LOC102006745	chromosome unknown open reading frame, human C5orf24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8710483	LOC102006745	chromosome unknown open reading frame, human C5orf24	gene	DOID:4362	cervical cancer		ISO	RGD:1605291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8710483	LOC102006745	chromosome unknown open reading frame, human C5orf24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710483	LOC102006745	chromosome unknown open reading frame, human C5orf24	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8710511	Znf322	zinc finger protein 322	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8710511	Znf322	zinc finger protein 322	gene	DOID:3275	thymoma		ISO	RGD:1347331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:0080337	mitochondrial DNA depletion syndrome 15		ISO	RGD:1605718	D	RGD:7240710	20190315	OMIM			
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:0080337	mitochondrial DNA depletion syndrome 15		ISO	RGD:1605718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | ClinVar Annotator: match by term: TFAM-related condition	PMID:25741868|PMID:28492532
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:0080855	Parkinsonism		ISO	RGD:733567	D	RGD:9068941	20200609	RGD		mRNA:increased expression:striatum	PMID:22040668|REF_RGD_ID:6484267
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:0110721	neuronal ceroid lipofuscinosis 1		ISO	RGD:1605718	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21224254
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1605718	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17192785
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1605718	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1937 (human)	PMID:21799244|REF_RGD_ID:6767575
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:1605718	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:IVS4+113A>G (rs2306604) (human)	PMID:17537576|REF_RGD_ID:6771185
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:12858	Huntington's disease		ISO	RGD:1605718	D	RGD:9068941	20200609	RGD			PMID:21595933|REF_RGD_ID:6770890
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:12858	Huntington's disease		ISO	RGD:733567	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:striatum	PMID:20529956|REF_RGD_ID:6771173
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:12934	Kearns-Sayre syndrome		ISO	RGD:733567	D	RGD:9068941	20220825	MouseDO		OMIM:530000	
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:13548	secondary Parkinson disease		ISO	RGD:1605718	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28595911
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:14330	Parkinson's disease		ISO	RGD:733567	D	RGD:9068941	20220825	MouseDO		OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251	
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:14330	Parkinson's disease	no_association	ISO	RGD:1605718	D	RGD:9068941	20200609	RGD		DNA:missense mutation, SNP:exon, intron:p.S12T, IVS4+113A>G (rs1937, rs2306604) (human)	PMID:17537576|REF_RGD_ID:6771185
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:14330	Parkinson's disease	no_association	ISO	RGD:1605718	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.S12T (rs1937) (human)	PMID:18248889|REF_RGD_ID:6771184
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:14330	Parkinson's disease	susceptibility	ISO	RGD:1605718	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:IVS4+113A>G (rs2306604) (human)	PMID:19925850|REF_RGD_ID:14389730
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:1824	status epilepticus		ISO	RGD:620682	D	RGD:9068941	20200609	RGD			PMID:21854834|REF_RGD_ID:6767574
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605718	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:332	amyotrophic lateral sclerosis	severity	ISO	RGD:1605718	D	RGD:9068941	20200609	RGD			PMID:22354563|REF_RGD_ID:6767572
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:5082	liver cirrhosis		ISO	RGD:1605718	D	RGD:9068941	20251106	CTD		CTD Direct Evidence: therapeutic	PMID:38241915
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1605718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:620682	D	RGD:9068941	20200609	RGD			PMID:22469910|REF_RGD_ID:6767567
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1605718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IUGR	PMID:27448789
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:9002669	Hypoxia	treatment	ISO	RGD:620682	D	RGD:9068941	20230720	RGD		mRNA:decreased expression:left ventricle myocardium (rat)	PMID:33310031|REF_RGD_ID:329955450
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:9002906	Multiple Organ Failure		ISO	RGD:1605718	D	RGD:9068941	20200609	RGD		associated with Sepsis;protein:increased expression:skeletal muscle	PMID:18997871|REF_RGD_ID:6771188
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:620682	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebral cortex	PMID:18723421|REF_RGD_ID:2302400
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620682	D	RGD:9068941	20200609	RGD			PMID:22266265|REF_RGD_ID:6767573
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:9005372	Inflammation		ISO	RGD:620682	D	RGD:9068941	20200609	RGD			PMID:22469910|REF_RGD_ID:6767567
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1605718	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28595911
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:9007170	Bowen's Disease		ISO	RGD:1605718	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21514422
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:9007346	Cachexia		ISO	RGD:1605718	D	RGD:9068941	20200609	RGD		associated with Pulmonary Disease, Chronic Obstructive (COPD, MeSH:D029424); RNA, protein:decreased expression:skeletal muscle	PMID:17459894|REF_RGD_ID:5683621
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:9970	obesity		ISO	RGD:1605718	D	RGD:9068941	20200609	RGD			PMID:21862610|REF_RGD_ID:5683906
8710522	Tfam	transcription factor A, mitochondrial	gene	DOID:9970	obesity	treatment	ISO	RGD:620682	D	RGD:9068941	20230720	RGD		mRNA:decreased expression:left ventricle myocardium (rat)	PMID:33310031|REF_RGD_ID:329955450
8710536	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8710536	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:0051039	primary autosomal recessive microcephaly 28		ISO	RGD:1607047	D	RGD:7240710	20210804	OMIM			
8710536	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:0051039	primary autosomal recessive microcephaly 28		ISO	RGD:1607047	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly 28, primary, autosomal recessive	
8710536	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:10534	stomach cancer		ISO	RGD:1607047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8710536	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:1324	lung cancer		ISO	RGD:1607047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8710536	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:1909	melanoma		ISO	RGD:1607047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8710536	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8710536	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1607047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8710536	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:4362	cervical cancer		ISO	RGD:1607047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8710536	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:5041	esophageal cancer		ISO	RGD:1607047	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8710536	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710536	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:6039	uveal melanoma		ISO	RGD:1607047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8710554	Phlpp2	PH domain and leucine rich repeat protein phosphatase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8710554	Phlpp2	PH domain and leucine rich repeat protein phosphatase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8710554	Phlpp2	PH domain and leucine rich repeat protein phosphatase 2	gene	DOID:3275	thymoma		ISO	RGD:1604636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8710554	Phlpp2	PH domain and leucine rich repeat protein phosphatase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8710554	Phlpp2	PH domain and leucine rich repeat protein phosphatase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604636	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8710554	Phlpp2	PH domain and leucine rich repeat protein phosphatase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710554	Phlpp2	PH domain and leucine rich repeat protein phosphatase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710588	Sez6l	seizure related 6 homolog like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8710588	Sez6l	seizure related 6 homolog like	gene	DOID:10283	prostate cancer		ISO	RGD:1344560	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8710588	Sez6l	seizure related 6 homolog like	gene	DOID:10283	prostate cancer		ISO	RGD:1344560	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8710588	Sez6l	seizure related 6 homolog like	gene	DOID:10534	stomach cancer		ISO	RGD:1344560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8710588	Sez6l	seizure related 6 homolog like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8710588	Sez6l	seizure related 6 homolog like	gene	DOID:1115	sarcoma		ISO	RGD:1344560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8710588	Sez6l	seizure related 6 homolog like	gene	DOID:12849	autistic disorder		ISO	RGD:1344560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
8710588	Sez6l	seizure related 6 homolog like	gene	DOID:1324	lung cancer		ISO	RGD:1344560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8710588	Sez6l	seizure related 6 homolog like	gene	DOID:1909	melanoma		ISO	RGD:1344560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8710588	Sez6l	seizure related 6 homolog like	gene	DOID:4362	cervical cancer		ISO	RGD:1344560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8710588	Sez6l	seizure related 6 homolog like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710588	Sez6l	seizure related 6 homolog like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710588	Sez6l	seizure related 6 homolog like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8710613	Lrrc59	leucine rich repeat containing 59	gene	DOID:1324	lung cancer		ISO	RGD:1605059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8710613	Lrrc59	leucine rich repeat containing 59	gene	DOID:3068	glioblastoma		ISO	RGD:1605059	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
8710613	Lrrc59	leucine rich repeat containing 59	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8710613	Lrrc59	leucine rich repeat containing 59	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1605059	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
8710613	Lrrc59	leucine rich repeat containing 59	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710613	Lrrc59	leucine rich repeat containing 59	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605059	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
8710613	Lrrc59	leucine rich repeat containing 59	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1605059	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
8710613	Lrrc59	leucine rich repeat containing 59	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1605059	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:0060135	apraxia		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apraxia	PMID:25741868
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:0060351	mitochondrial complex III deficiency nuclear type 2		ISO	RGD:1353382	D	RGD:7240710	20180130	OMIM			
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:0060351	mitochondrial complex III deficiency nuclear type 2		ISO	RGD:1353382	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 | ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 2 | ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 2 | ClinVar Annotator: match by term: TTC19-related condition	PMID:17576681|PMID:21278747|PMID:23532514|PMID:24368687|PMID:25741868|PMID:25887401|PMID:25899669|PMID:28128857|PMID:28492532|PMID:38127101|PMID:9536098
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:0080111	mitochondrial complex III deficiency nuclear type 1		ISO	RGD:1353382	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278747
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:1059	intellectual disability		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:12849	autistic disorder		ISO	RGD:1353382	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1353382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278747
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:2841	asthma		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:4362	cervical cancer		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1353382	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:5223	infertility		ISO	RGD:1353382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278747
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:543	dystonia		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:630	genetic disease		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1353382	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:863	nervous system disease		ISO	RGD:1353382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278747
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:9001722	Dysarthria		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:9004866	Ataxia		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1353382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278747
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710624	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8710659	Cnnm1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8710659	Cnnm1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:1324	lung cancer		ISO	RGD:1318672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8710659	Cnnm1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:1909	melanoma		ISO	RGD:1318672	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16778180
8710659	Cnnm1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8710659	Cnnm1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8710659	Cnnm1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8710659	Cnnm1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318672	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8710659	Cnnm1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710659	Cnnm1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8710676	Cisd2	CDGSH iron sulfur domain 2	gene	DOID:0110630	Wolfram syndrome 2		ISO	RGD:1603794	D	RGD:7240710	20180130	OMIM			
8710676	Cisd2	CDGSH iron sulfur domain 2	gene	DOID:0110630	Wolfram syndrome 2		ISO	RGD:1603794	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CISD2-related condition | ClinVar Annotator: match by term: WOLFRAM SYNDROME 2 | ClinVar Annotator: match by term: Wolfram syndrome 2	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8710676	Cisd2	CDGSH iron sulfur domain 2	gene	DOID:630	genetic disease		ISO	RGD:1603794	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8710676	Cisd2	CDGSH iron sulfur domain 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1603794	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
8710684	Fermt1	FERM domain containing kindlin 1	gene	DOID:0060472	Kindler syndrome		ISO	RGD:1315645	D	RGD:7240710	20190315	OMIM			
8710684	Fermt1	FERM domain containing kindlin 1	gene	DOID:0060472	Kindler syndrome		ISO	RGD:1315645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FERMT1-related condition | ClinVar Annotator: match by term: KINDLER SYNDROME | ClinVar Annotator: match by term: Kindler syndrome | ClinVar Annotator: match by term: Kindler's syndrome	PMID:12789646|PMID:14507403|PMID:14962093|PMID:15313809|PMID:16199547|PMID:16675959|PMID:16702500|PMID:17178989|PMID:17460733|PMID:17916195|PMID:18528435|PMID:19292718|PMID:19762715|PMID:20938162|PMID:21336475|PMID:21936020|PMID:22220914|PMID:22466645|PMID:24346923|PMID:24635075|PMID:24635080|PMID:25156791|PMID:25437880|PMID:25599393|PMID:25741868|PMID:26937547|PMID:27293055|PMID:27862150|PMID:28492532|PMID:29130490|PMID:29453417|PMID:30838128|PMID:31340837|PMID:31957900
8710684	Fermt1	FERM domain containing kindlin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8710684	Fermt1	FERM domain containing kindlin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8710684	Fermt1	FERM domain containing kindlin 1	gene	DOID:11830	myopia		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8710684	Fermt1	FERM domain containing kindlin 1	gene	DOID:1272	telangiectasis		ISO	RGD:1315645	D	RGD:9068941	20200609	RGD		Kindler syndrome, OMIM:173650     DNA:point_mutation:CDS:C787T, amino acid Q263X	PMID:12668616|REF_RGD_ID:1600405
8710684	Fermt1	FERM domain containing kindlin 1	gene	DOID:1324	lung cancer		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8710684	Fermt1	FERM domain containing kindlin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8710684	Fermt1	FERM domain containing kindlin 1	gene	DOID:2731	vesiculobullous skin disease		ISO	RGD:1315645	D	RGD:9068941	20200609	RGD		Kindler syndrome, OMIM:173650     DNA:point_mutation:CDS:C787T, amino acid Q263X	PMID:12668616|REF_RGD_ID:1600405
8710684	Fermt1	FERM domain containing kindlin 1	gene	DOID:3275	thymoma		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8710684	Fermt1	FERM domain containing kindlin 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8710684	Fermt1	FERM domain containing kindlin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710684	Fermt1	FERM domain containing kindlin 1	gene	DOID:630	genetic disease		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8710684	Fermt1	FERM domain containing kindlin 1	gene	DOID:9003228	Tooth Loss		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tooth loss	PMID:14962093|PMID:17916195|PMID:21936020|PMID:22466645|PMID:24346923|PMID:25741868|PMID:27293055|PMID:28492532|PMID:30838128|PMID:31340837|PMID:31957900
8710684	Fermt1	FERM domain containing kindlin 1	gene	DOID:9004462	Atrophy		ISO	RGD:1315645	D	RGD:9068941	20200609	RGD		Kindler syndrome, OMIM:173650     DNA:point_mutation:CDS:C787T, amino acid Q263X	PMID:12668616|REF_RGD_ID:1600405
8710684	Fermt1	FERM domain containing kindlin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710684	Fermt1	FERM domain containing kindlin 1	gene	DOID:9006976	Erythema		ISO	RGD:1315645	D	RGD:9068941	20200609	RGD		Kindler syndrome, OMIM:173650     DNA:point_mutation:CDS:C787T, amino acid Q263X	PMID:12668616|REF_RGD_ID:1600405
8710684	Fermt1	FERM domain containing kindlin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8710719	Fndc7	fibronectin type III domain containing 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710719	Fndc7	fibronectin type III domain containing 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8710774	Asb13	ankyrin repeat and SOCS box containing 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8710774	Asb13	ankyrin repeat and SOCS box containing 13	gene	DOID:10534	stomach cancer		ISO	RGD:1321264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8710774	Asb13	ankyrin repeat and SOCS box containing 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8710774	Asb13	ankyrin repeat and SOCS box containing 13	gene	DOID:1324	lung cancer		ISO	RGD:1321264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8710774	Asb13	ankyrin repeat and SOCS box containing 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8710774	Asb13	ankyrin repeat and SOCS box containing 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1321264	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8710774	Asb13	ankyrin repeat and SOCS box containing 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710774	Asb13	ankyrin repeat and SOCS box containing 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8710774	Asb13	ankyrin repeat and SOCS box containing 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8710784	Itm2a	integral membrane protein 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8710784	Itm2a	integral membrane protein 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8710784	Itm2a	integral membrane protein 2A	gene	DOID:0080600	COVID-19		ISO	RGD:1354301	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8710784	Itm2a	integral membrane protein 2A	gene	DOID:3275	thymoma		ISO	RGD:1354301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8710784	Itm2a	integral membrane protein 2A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8710784	Itm2a	integral membrane protein 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710784	Itm2a	integral membrane protein 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710784	Itm2a	integral membrane protein 2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8710803	Sack1a	scaffolding CK1 anchoring protein A	gene	DOID:0060058	lymphoma		ISO	RGD:1602845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8710803	Sack1a	scaffolding CK1 anchoring protein A	gene	DOID:4362	cervical cancer		ISO	RGD:1602845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8710803	Sack1a	scaffolding CK1 anchoring protein A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710803	Sack1a	scaffolding CK1 anchoring protein A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8710803	Sack1a	scaffolding CK1 anchoring protein A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8710803	Sack1a	scaffolding CK1 anchoring protein A	gene	DOID:9000918	Disease Progression		ISO	RGD:1602845	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:34931434
8710803	Sack1a	scaffolding CK1 anchoring protein A	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1602845	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:34931434
8710803	Sack1a	scaffolding CK1 anchoring protein A	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1602845	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:34931434
8710803	Sack1a	scaffolding CK1 anchoring protein A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710803	Sack1a	scaffolding CK1 anchoring protein A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8710812	Hspbp1	HSPA (Hsp70) binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8710812	Hspbp1	HSPA (Hsp70) binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:734029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8710812	Hspbp1	HSPA (Hsp70) binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:734029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8710812	Hspbp1	HSPA (Hsp70) binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:734029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8710812	Hspbp1	HSPA (Hsp70) binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8710812	Hspbp1	HSPA (Hsp70) binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:734029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8710812	Hspbp1	HSPA (Hsp70) binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710812	Hspbp1	HSPA (Hsp70) binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710848	C4bpa	complement component 4 binding protein alpha	gene	DOID:0080600	COVID-19	severity	ISO	RGD:736103	D	RGD:9068941	20200813	RGD		DNA:SNP: :rs61821041(human)	PMID:32747830|REF_RGD_ID:38500238
8710848	C4bpa	complement component 4 binding protein alpha	gene	DOID:1324	lung cancer		ISO	RGD:736103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8710848	C4bpa	complement component 4 binding protein alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:736103	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8710848	C4bpa	complement component 4 binding protein alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8710848	C4bpa	complement component 4 binding protein alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710848	C4bpa	complement component 4 binding protein alpha	gene	DOID:9008604	Radiation Pneumonitis		ISO	RGD:736103	D	RGD:9068941	20200609	RGD		Protein: increased expression: plasma	PMID:20510197|REF_RGD_ID:5129484
8710866	Ddx20	DEAD-box helicase 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8710866	Ddx20	DEAD-box helicase 20	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8710866	Ddx20	DEAD-box helicase 20	gene	DOID:1115	sarcoma		ISO	RGD:1320818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8710866	Ddx20	DEAD-box helicase 20	gene	DOID:1324	lung cancer		ISO	RGD:1320818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8710866	Ddx20	DEAD-box helicase 20	gene	DOID:1909	melanoma		ISO	RGD:1320818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MELANOMA, MALIGNANT	
8710866	Ddx20	DEAD-box helicase 20	gene	DOID:2394	ovarian cancer		ISO	RGD:1320818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8710866	Ddx20	DEAD-box helicase 20	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1320818	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868
8710866	Ddx20	DEAD-box helicase 20	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8710866	Ddx20	DEAD-box helicase 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710866	Ddx20	DEAD-box helicase 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710866	Ddx20	DEAD-box helicase 20	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8710866	Ddx20	DEAD-box helicase 20	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8710882	Tpm1	tropomyosin 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:737098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:24503780|PMID:24691700|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:30371277|PMID:30847666|PMID:34935411|PMID:36178741|PMID:37342443
8710882	Tpm1	tropomyosin 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737098	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:11606294|PMID:11968089|PMID:12473556|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18533079|PMID:19035361|PMID:20159828|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23204897|PMID:23674513|PMID:23700264|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24793961|PMID:25031304|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:27177193|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28301460|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28790153|PMID:29024827|PMID:29121657|PMID:29192238|PMID:29517769|PMID:29760186|PMID:30165862|PMID:31270709|PMID:31513939|PMID:32880476|PMID:33495597|PMID:33673806|PMID:34008892|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100
8710882	Tpm1	tropomyosin 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737098	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18533079|PMID:19035361|PMID:20159828|PMID:20215591|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21320446|PMID:21376702|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23147248|PMID:23204897|PMID:23283745|PMID:23674513|PMID:23700264|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24793961|PMID:25031304|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:27177193|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28301460|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28790153|PMID:29024827|PMID:29121657|PMID:29192238|PMID:29517769|PMID:29760186|PMID:29907873|PMID:30165862|PMID:30240712|PMID:30297972|PMID:30847666|PMID:31270709|PMID:31513939|PMID:32880476|PMID:33495597|PMID:33673806|PMID:34008892|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100
8710882	Tpm1	tropomyosin 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737098	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:16005017|PMID:16014439|PMID:16365313|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:20031602|PMID:20159828|PMID:20215591|PMID:20965760|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23071391|PMID:23147248|PMID:23204897|PMID:23283745|PMID:23396983|PMID:23508784|PMID:23674513|PMID:23700264|PMID:23771913|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24510615|PMID:24793961|PMID:25031304|PMID:25241052|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25389285|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26274955|PMID:26936621|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:28138913|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28771489|PMID:28790153|PMID:28797094|PMID:28986452|PMID:29024827|PMID:29105867|PMID:29121657|PMID:29447731|PMID:29517769|PMID:29760186|PMID:29907873|PMID:30240712|PMID:30297972|PMID:30513141|PMID:30847666|PMID:31006259|PMID:31270709|PMID:31308319|PMID:31513939|PMID:32731933|PMID:32746448|PMID:32880476|PMID:32882290|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33642254|PMID:33673806|PMID:33919104|PMID:34008892|PMID:34011823|PMID:34137518|PMID:34194005|PMID:34495297|PMID:34638741|PMID:35470680|PMID:35626289|PMID:36555368|PMID:37498360|PMID:37904629|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100
8710882	Tpm1	tropomyosin 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10400910|PMID:10900175|PMID:11606294|PMID:12473556|PMID:12860912|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16504640|PMID:17576681|PMID:18533079|PMID:20965760|PMID:21295541|PMID:21320446|PMID:21376702|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23283745|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24793961|PMID:24888384|PMID:25037680|PMID:25342278|PMID:25351510|PMID:25389285|PMID:25524337|PMID:25548289|PMID:25611685|PMID:25741868|PMID:26274955|PMID:27177193|PMID:27532257|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28771489|PMID:28790153|PMID:28797094|PMID:29024827|PMID:29517769|PMID:29760186|PMID:30297972|PMID:30513141|PMID:31270709|PMID:33495597|PMID:33673806|PMID:34486814|PMID:34598319|PMID:37652022|PMID:37904629|PMID:38002985|PMID:38489124|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100
8710882	Tpm1	tropomyosin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8710882	Tpm1	tropomyosin 1	gene	DOID:0060480	left ventricular noncompaction		ISO	RGD:737098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction	
8710882	Tpm1	tropomyosin 1	gene	DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1		ISO	RGD:737098	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia	PMID:24033266|PMID:25741868|PMID:28492532
8710882	Tpm1	tropomyosin 1	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:737098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:10400910|PMID:10900175|PMID:11606294|PMID:12473556|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16504640|PMID:21295541|PMID:21320446|PMID:21376702|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:24033266|PMID:24888384|PMID:25548289|PMID:25741868|PMID:28492532|PMID:29760186|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9440709|PMID:9822100
8710882	Tpm1	tropomyosin 1	gene	DOID:0110106	atrial heart septal defect 1		ISO	RGD:737098	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Atrial septal defect 1	PMID:28359939
8710882	Tpm1	tropomyosin 1	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:737098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10400910|PMID:10900175|PMID:11606294|PMID:12473556|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16504640|PMID:17576681|PMID:21295541|PMID:21320446|PMID:21376702|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:24033266|PMID:24888384|PMID:25548289|PMID:25741868|PMID:28492532|PMID:28790153|PMID:29760186|PMID:37652022|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9440709|PMID:9536098|PMID:9822100
8710882	Tpm1	tropomyosin 1	gene	DOID:0110309	hypertrophic cardiomyopathy 3		ISO	RGD:737098	D	RGD:7240710	20180130	OMIM			
8710882	Tpm1	tropomyosin 1	gene	DOID:0110309	hypertrophic cardiomyopathy 3		ISO	RGD:737098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 3 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 3	PMID:10400910|PMID:10900175|PMID:11044437|PMID:11136687|PMID:11603924|PMID:11606294|PMID:12473556|PMID:12860912|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16504640|PMID:17576681|PMID:21295541|PMID:21320446|PMID:21376702|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23283745|PMID:24005378|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24691700|PMID:24888384|PMID:25351510|PMID:25389285|PMID:25524337|PMID:25548289|PMID:25611685|PMID:25741868|PMID:26274955|PMID:27177193|PMID:27532257|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28790153|PMID:28798025|PMID:29024827|PMID:29496559|PMID:29517769|PMID:29540472|PMID:29760186|PMID:29907873|PMID:30371277|PMID:30847666|PMID:30871747|PMID:31179125|PMID:31270709|PMID:31983221|PMID:32731933|PMID:32882290|PMID:33495597|PMID:33642254|PMID:34486814|PMID:34598319|PMID:34935411|PMID:36178741|PMID:37342443|PMID:37652022|PMID:38002985|PMID:39436707|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100
8710882	Tpm1	tropomyosin 1	gene	DOID:0110457	dilated cardiomyopathy 1Y		ISO	RGD:737098	D	RGD:7240710	20180130	OMIM			
8710882	Tpm1	tropomyosin 1	gene	DOID:0110457	dilated cardiomyopathy 1Y		ISO	RGD:737098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y | ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 9 | ClinVar Annotator: match by term: Left ventricular noncompaction 9 | ClinVar Annotator: match by term: TPM1-related condition	PMID:10400910|PMID:10900175|PMID:11273725|PMID:11606294|PMID:12473556|PMID:14734051|PMID:15000344|PMID:15923195|PMID:16014439|PMID:16043485|PMID:16504640|PMID:17556658|PMID:19222994|PMID:19646950|PMID:21295541|PMID:21320446|PMID:21376702|PMID:21741356|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23077624|PMID:23283745|PMID:23349452|PMID:23539503|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24691700|PMID:24888384|PMID:25241052|PMID:25351510|PMID:25389285|PMID:25520664|PMID:25548289|PMID:25611685|PMID:25741868|PMID:26065842|PMID:26109583|PMID:26274955|PMID:26688388|PMID:26899768|PMID:27177193|PMID:27532257|PMID:27878731|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29024827|PMID:29517769|PMID:29636697|PMID:29644095|PMID:29760186|PMID:29907873|PMID:30188508|PMID:30371277|PMID:30847666|PMID:30871747|PMID:31090107|PMID:31179125|PMID:31270709|PMID:31983221|PMID:32600061|PMID:32618513|PMID:32731933|PMID:32746448|PMID:32882290|PMID:33495597|PMID:33642254|PMID:33888711|PMID:34036930|PMID:34486814|PMID:34598319|PMID:34935411|PMID:36178741|PMID:36252119|PMID:37342443|PMID:37652022|PMID:38002985|PMID:39436707|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9822100
8710882	Tpm1	tropomyosin 1	gene	DOID:10763	hypertension		ISO	RGD:737098	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22228705
8710882	Tpm1	tropomyosin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8710882	Tpm1	tropomyosin 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:737098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:10400910|PMID:10900175|PMID:11044437|PMID:11136687|PMID:11603924|PMID:11606294|PMID:12169652|PMID:12473556|PMID:12860912|PMID:12900417|PMID:14734051|PMID:15000344|PMID:15059934|PMID:15249230|PMID:15479242|PMID:16014439|PMID:16199547|PMID:16504640|PMID:17576681|PMID:18533079|PMID:20161772|PMID:20215591|PMID:20965760|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21454502|PMID:21642532|PMID:21835320|PMID:21839045|PMID:21840315|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22464770|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23147248|PMID:23283745|PMID:23349452|PMID:24033266|PMID:24183960|PMID:24374033|PMID:24503780|PMID:24510615|PMID:24548721|PMID:24691700|PMID:24793961|PMID:24888384|PMID:25037680|PMID:25241052|PMID:25342278|PMID:25351510|PMID:25389285|PMID:25524337|PMID:25548289|PMID:25611685|PMID:25741868|PMID:26025024|PMID:26274955|PMID:26688388|PMID:26899768|PMID:27177193|PMID:27532257|PMID:28138913|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28732641|PMID:28771489|PMID:28790153|PMID:28797094|PMID:28798025|PMID:29024827|PMID:29121657|PMID:29255176|PMID:29496559|PMID:29517769|PMID:29540472|PMID:29644095|PMID:29760186|PMID:29907873|PMID:30022097|PMID:30188508|PMID:30297972|PMID:30371277|PMID:30453078|PMID:30513141|PMID:30847666|PMID:30871747|PMID:30923642|PMID:31090107|PMID:31179125|PMID:31270709|PMID:31308319|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32458740|PMID:32600061|PMID:32746448|PMID:32830170|PMID:32882290|PMID:32969603|PMID:33019804|PMID:33020181|PMID:33082984|PMID:33495597|PMID:33673806|PMID:33888711|PMID:33954932|PMID:34036930|PMID:34486814|PMID:34598319|PMID:34935411|PMID:36178741|PMID:36252119|PMID:36739943|PMID:37342443|PMID:37652022|PMID:37904629|PMID:38002985|PMID:38223010|PMID:38836950|PMID:38874371|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:8774330|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100
8710882	Tpm1	tropomyosin 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:737098	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11106625|PMID:18533079|PMID:20117437|PMID:20159828|PMID:20215591|PMID:20530761|PMID:21310275|PMID:21483645|PMID:23539503|PMID:23674513|PMID:24033266|PMID:25031304|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25525159|PMID:25548289|PMID:25741868|PMID:26899768|PMID:27177193|PMID:27532257|PMID:28359939|PMID:28492532|PMID:28600229|PMID:28603979|PMID:29024827|PMID:29517769|PMID:31333075|PMID:31568572
8710882	Tpm1	tropomyosin 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:737098	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11106625|PMID:18533079|PMID:20117437|PMID:20159828|PMID:20215591|PMID:20530761|PMID:21310275|PMID:21483645|PMID:23508784|PMID:23539503|PMID:23674513|PMID:24033266|PMID:24503780|PMID:24691700|PMID:25031304|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25525159|PMID:25548289|PMID:25611685|PMID:25741868|PMID:26899768|PMID:27177193|PMID:27532257|PMID:28359939|PMID:28492532|PMID:28600229|PMID:28603979|PMID:28798025|PMID:29024827|PMID:29447731|PMID:29496559|PMID:29517769|PMID:29644095|PMID:30188508|PMID:30240712|PMID:30297972|PMID:30513141|PMID:30847666|PMID:30923642|PMID:31270709|PMID:31333075|PMID:31568572|PMID:32600061|PMID:33888711|PMID:33906374|PMID:34036930|PMID:34076677|PMID:34137518|PMID:34834072|PMID:34935411|PMID:36178741|PMID:36252119|PMID:37342443|PMID:37904629|PMID:9400381
8710882	Tpm1	tropomyosin 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:737098	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11106625|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16365313|PMID:16504640|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:20031602|PMID:20117437|PMID:20159828|PMID:20215591|PMID:20530761|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21483645|PMID:21551322|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23396983|PMID:23508784|PMID:23539503|PMID:23674513|PMID:23771913|PMID:24033266|PMID:24503780|PMID:24510615|PMID:24691700|PMID:25031304|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25351510|PMID:25524337|PMID:25525159|PMID:25548289|PMID:25611685|PMID:25741868|PMID:26899768|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27639548|PMID:28359939|PMID:28492532|PMID:28600229|PMID:28603979|PMID:28615295|PMID:28798025|PMID:28986452|PMID:29024827|PMID:29447731|PMID:29496559|PMID:29517769|PMID:29644095|PMID:29760186|PMID:30188508|PMID:30240712|PMID:30297972|PMID:30371277|PMID:30513141|PMID:30847666|PMID:30923642|PMID:31006259|PMID:31270709|PMID:31333075|PMID:31513939|PMID:31568572|PMID:32600061|PMID:32731933|PMID:32882290|PMID:33297573|PMID:33642254|PMID:33888711|PMID:33906374|PMID:34036930|PMID:34076677|PMID:34137518|PMID:34319370|PMID:34638741|PMID:34834072|PMID:34935411|PMID:35917600|PMID:36178741|PMID:36252119|PMID:37342443|PMID:37904629|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9822100
8710882	Tpm1	tropomyosin 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:737098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11106625|PMID:21310275|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27532257|PMID:28359939|PMID:28492532|PMID:29024827|PMID:29644095|PMID:30188508|PMID:30513141|PMID:30847666|PMID:30923642|PMID:31333075|PMID:31568572|PMID:32600061|PMID:33888711|PMID:34036930|PMID:36252119|PMID:37904629|PMID:9400381
8710882	Tpm1	tropomyosin 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:737098	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11106625|PMID:21310275|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27177193|PMID:27532257|PMID:28359939|PMID:28492532|PMID:29024827|PMID:29517769|PMID:29644095|PMID:30188508|PMID:30513141|PMID:30847666|PMID:30923642|PMID:31270709|PMID:31333075|PMID:31568572|PMID:32600061|PMID:33888711|PMID:34036930|PMID:36252119|PMID:37652022|PMID:37904629|PMID:9400381
8710882	Tpm1	tropomyosin 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:737098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10400910|PMID:10900175|PMID:11106625|PMID:11606294|PMID:12473556|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16504640|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:24033266|PMID:24503780|PMID:24691700|PMID:24888384|PMID:25548289|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27177193|PMID:27532257|PMID:28359939|PMID:28492532|PMID:28798025|PMID:29024827|PMID:29517769|PMID:29644095|PMID:29760186|PMID:30188508|PMID:30371277|PMID:30513141|PMID:30847666|PMID:30923642|PMID:31270709|PMID:31333075|PMID:31568572|PMID:32600061|PMID:33888711|PMID:34036930|PMID:34935411|PMID:36178741|PMID:36252119|PMID:37342443|PMID:37652022|PMID:37904629|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9822100
8710882	Tpm1	tropomyosin 1	gene	DOID:1324	lung cancer		ISO	RGD:737098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8710882	Tpm1	tropomyosin 1	gene	DOID:1909	melanoma		ISO	RGD:737098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8710882	Tpm1	tropomyosin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8710882	Tpm1	tropomyosin 1	gene	DOID:2355	anemia		ISO	RGD:737098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:24503780|PMID:24691700|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:30371277|PMID:30847666|PMID:34935411|PMID:36178741|PMID:37342443
8710882	Tpm1	tropomyosin 1	gene	DOID:3070	high grade glioma		ISO	RGD:737098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8710882	Tpm1	tropomyosin 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:737098	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
8710882	Tpm1	tropomyosin 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:737098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8710882	Tpm1	tropomyosin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710882	Tpm1	tropomyosin 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:737098	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:28359939
8710882	Tpm1	tropomyosin 1	gene	DOID:9000058	Keloid		ISO	RGD:737098	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
8710882	Tpm1	tropomyosin 1	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:737098	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15986332
8710882	Tpm1	tropomyosin 1	gene	DOID:9000351	Diarrhea 9		ISO	RGD:737098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:24503780|PMID:24691700|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:30371277|PMID:30847666|PMID:34935411|PMID:36178741|PMID:37342443
8710882	Tpm1	tropomyosin 1	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:737098	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:25741868|PMID:28492532|PMID:31568572|PMID:34540771
8710882	Tpm1	tropomyosin 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737098	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8710882	Tpm1	tropomyosin 1	gene	DOID:9003604	Pulmonary Atresia with Intact Ventricular Septum		ISO	RGD:737098	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pulmonary atresia with intact ventricular septum	PMID:28359939
8710882	Tpm1	tropomyosin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8710965	Spata2	spermatogenesis associated 2	gene	DOID:1115	sarcoma		ISO	RGD:731260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8710965	Spata2	spermatogenesis associated 2	gene	DOID:1909	melanoma		ISO	RGD:731260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8710965	Spata2	spermatogenesis associated 2	gene	DOID:5041	esophageal cancer		ISO	RGD:731260	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8710978	Myo15a	myosin XVA	gene	DOID:0050486	exanthem		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skin rash	PMID:15654330|PMID:17851452|PMID:24033266|PMID:27375115|PMID:28492532
8710978	Myo15a	myosin XVA	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1343693	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness	PMID:16199547|PMID:17546645|PMID:20642360|PMID:23208854|PMID:24033266|PMID:24123792|PMID:24875298|PMID:25741868|PMID:26969326|PMID:27375115|PMID:27870113|PMID:28000701|PMID:28492532|PMID:30311386|PMID:30953472|PMID:31579092|PMID:31980526|PMID:33398081|PMID:35346193
8710978	Myo15a	myosin XVA	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1343693	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:25373420|PMID:25741868|PMID:28492532|PMID:30311386|PMID:30953472|PMID:35802133|PMID:36633841|PMID:39498320
8710978	Myo15a	myosin XVA	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8710978	Myo15a	myosin XVA	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	
8710978	Myo15a	myosin XVA	gene	DOID:0060326	myelomeningocele		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myelomeningocele	
8710978	Myo15a	myosin XVA	gene	DOID:0110488	autosomal recessive nonsyndromic deafness 3		ISO	RGD:1343693	D	RGD:7240710	20180130	OMIM			
8710978	Myo15a	myosin XVA	gene	DOID:0110488	autosomal recessive nonsyndromic deafness 3		ISO	RGD:1343693	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Deafness, autosomal recessive 3 | ClinVar Annotator: match by term: MYO15A-related condition | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3	PMID:11735029|PMID:12408074|PMID:16199547|PMID:17546645|PMID:17576681|PMID:17851452|PMID:19274735|PMID:19888295|PMID:20505086|PMID:20642360|PMID:21917145|PMID:22245518|PMID:22736430|PMID:23208854|PMID:23767834|PMID:23865914|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24123792|PMID:24130743|PMID:24206587|PMID:24498627|PMID:24654934|PMID:24875298|PMID:24949729|PMID:25373420|PMID:2574186|PMID:25741868|PMID:25788563|PMID:25792667|PMID:26011067|PMID:26226137|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26633542|PMID:26763877|PMID:26810297|PMID:26969326|PMID:27018795|PMID:27068579|PMID:27344577|PMID:27375115|PMID:27436265|PMID:27573290|PMID:27635202|PMID:27734841|PMID:27870113|PMID:28000701|PMID:28383030|PMID:28390610|PMID:28492532|PMID:28984810|PMID:29196752|PMID:29482514|PMID:29692870|PMID:29907799|PMID:29986705|PMID:30139988|PMID:30303587|PMID:30311386|PMID:30579064|PMID:30622556|PMID:30665423|PMID:30682115|PMID:30733538|PMID:30828794|PMID:30896630|PMID:30953472|PMID:31379920|PMID:31389194|PMID:31579092|PMID:31581539|PMID:31589614|PMID:31827275|PMID:31850270|PMID:31980526|PMID:31992338|PMID:32238869|PMID:32279305|PMID:32387678|PMID:32617096|PMID:32623615|PMID:32658404|PMID:32737134|PMID:32747562|PMID:32802042|PMID:32860223|PMID:33095980|PMID:33111345|PMID:33187236|PMID:33208113|PMID:33297549|PMID:33398081|PMID:33524517|PMID:33597575|PMID:33879512|PMID:34062854|PMID:34265623|PMID:34325055|PMID:34374074|PMID:34416374|PMID:34599368|PMID:34733312|PMID:34744965|PMID:34837038|PMID:34974475|PMID:35062939|PMID:35346193|PMID:35440622|PMID:35580552|PMID:35640668|PMID:35802133|PMID:35939872|PMID:35982127|PMID:36217262|PMID:36401330|PMID:36472766|PMID:36515421|PMID:36568381|PMID:36597107|PMID:36633841|PMID:37438890|PMID:37811145|PMID:37996878|PMID:38374194|PMID:38610765|PMID:39333430|PMID:39336818|PMID:39498320|PMID:40275102|PMID:40377830|PMID:9536098|PMID:9603736
8710978	Myo15a	myosin XVA	gene	DOID:0110535	autosomal recessive nonsyndromic deafness 9		ISO	RGD:1343693	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 9	PMID:25741868|PMID:28492532|PMID:28964305
8710978	Myo15a	myosin XVA	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1343693	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:12408074|PMID:15654330|PMID:17546645|PMID:17576681|PMID:17851452|PMID:24033266|PMID:25741868|PMID:25792667|PMID:26969326|PMID:27068579|PMID:27375115|PMID:28492532|PMID:33111345|PMID:33398081|PMID:34733312|PMID:36515421|PMID:37811145|PMID:9536098
8710978	Myo15a	myosin XVA	gene	DOID:10376	amblyopia		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:15654330|PMID:17851452|PMID:24033266|PMID:27375115|PMID:28492532
8710978	Myo15a	myosin XVA	gene	DOID:10534	stomach cancer		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8710978	Myo15a	myosin XVA	gene	DOID:1059	intellectual disability		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:17546645|PMID:25741868|PMID:28492532
8710978	Myo15a	myosin XVA	gene	DOID:10907	microcephaly		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
8710978	Myo15a	myosin XVA	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:17546645|PMID:22245518|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31827275
8710978	Myo15a	myosin XVA	gene	DOID:10983	Alport syndrome		ISO	RGD:1343693	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Alport syndrome	PMID:28492532|PMID:30311386
8710978	Myo15a	myosin XVA	gene	DOID:1115	sarcoma		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8710978	Myo15a	myosin XVA	gene	DOID:11252	microcytic anemia		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcytic anemia	PMID:17546645|PMID:22245518|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31827275
8710978	Myo15a	myosin XVA	gene	DOID:1240	leukemia		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukemia	
8710978	Myo15a	myosin XVA	gene	DOID:12849	autistic disorder		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:17546645|PMID:25741868|PMID:28492532
8710978	Myo15a	myosin XVA	gene	DOID:1324	lung cancer		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8710978	Myo15a	myosin XVA	gene	DOID:13620	patent foramen ovale		ISO	RGD:1343693	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:17546645|PMID:22245518|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31827275
8710978	Myo15a	myosin XVA	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
8710978	Myo15a	myosin XVA	gene	DOID:1432	blindness		ISO	RGD:1561873	D	RGD:9068941	20260604	RGD			PMID:21479269|REF_RGD_ID:150429616
8710978	Myo15a	myosin XVA	gene	DOID:1432	blindness	induces	ISO	RGD:1561873	D	RGD:9068941	20210910	RGD		DNA:missense mutation:cds:exon 56 T>C, p.Leu3157Pro (rat)	PMID:21479269|REF_RGD_ID:150429616
8710978	Myo15a	myosin XVA	gene	DOID:1657	ventricular septal defect		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:17546645|PMID:22245518|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31827275
8710978	Myo15a	myosin XVA	gene	DOID:1826	epilepsy		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17546645|PMID:23767834|PMID:24033266|PMID:24949729|PMID:25741868|PMID:28492532
8710978	Myo15a	myosin XVA	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1343693	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
8710978	Myo15a	myosin XVA	gene	DOID:1909	melanoma		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8710978	Myo15a	myosin XVA	gene	DOID:1969	cerebral palsy		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:17546645|PMID:23767834|PMID:24033266|PMID:24949729|PMID:25741868|PMID:28492532
8710978	Myo15a	myosin XVA	gene	DOID:3275	thymoma		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8710978	Myo15a	myosin XVA	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8710978	Myo15a	myosin XVA	gene	DOID:4362	cervical cancer		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8710978	Myo15a	myosin XVA	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8710978	Myo15a	myosin XVA	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:28492532
8710978	Myo15a	myosin XVA	gene	DOID:630	genetic disease		ISO	RGD:1343693	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15654330|PMID:17546645|PMID:17851452|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27375115|PMID:28492532|PMID:29178603|PMID:30311386|PMID:30953472|PMID:33784549|PMID:34519870
8710978	Myo15a	myosin XVA	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8710978	Myo15a	myosin XVA	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
8710978	Myo15a	myosin XVA	gene	DOID:9000006	Supraventricular Tachycardia		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Supraventricular tachycardia	PMID:15654330|PMID:17851452|PMID:24033266|PMID:27375115|PMID:28492532
8710978	Myo15a	myosin XVA	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1343693	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:17546645|PMID:22245518|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31827275
8710978	Myo15a	myosin XVA	gene	DOID:9003566	Mesothelioma		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8710978	Myo15a	myosin XVA	gene	DOID:9004538	Hearing Loss		ISO	RGD:1343693	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing loss	PMID:17546645|PMID:17853461|PMID:22245518|PMID:23208854|PMID:24033266|PMID:24123792|PMID:24654934|PMID:24875298|PMID:25373420|PMID:25741868|PMID:26969326|PMID:28000701|PMID:28492532|PMID:28984810|PMID:30311386|PMID:30953472|PMID:31827275|PMID:31980526|PMID:32737134|PMID:35802133|PMID:36633841|PMID:37438890|PMID:39336818|PMID:39498320
8710978	Myo15a	myosin XVA	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8710978	Myo15a	myosin XVA	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343693	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8710978	Myo15a	myosin XVA	gene	DOID:9008681	Deafness		ISO	RGD:1343693	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness	
8710978	Myo15a	myosin XVA	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8710978	Myo15a	myosin XVA	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
8711048	Tollip	toll interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8711048	Tollip	toll interacting protein	gene	DOID:0080600	COVID-19		ISO	RGD:1312257	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease COVID-19	
8711048	Tollip	toll interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1312257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8711048	Tollip	toll interacting protein	gene	DOID:1324	lung cancer		ISO	RGD:1312257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8711048	Tollip	toll interacting protein	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1312257	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chronic obstructive pulmonary disease	
8711048	Tollip	toll interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1312257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8711048	Tollip	toll interacting protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8711048	Tollip	toll interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711048	Tollip	toll interacting protein	gene	DOID:9000575	Respiratory Signs and Symptoms		ISO	RGD:1312257	D	RGD:9068941	20251204	CTD		CTD Direct Evidence: marker/mechanism	PMID:39009092
8711048	Tollip	toll interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8711063	Slc4a1ap	solute carrier family 4 member 1 adaptor protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8711063	Slc4a1ap	solute carrier family 4 member 1 adaptor protein	gene	DOID:1115	sarcoma		ISO	RGD:1316058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8711063	Slc4a1ap	solute carrier family 4 member 1 adaptor protein	gene	DOID:3275	thymoma		ISO	RGD:1316058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8711063	Slc4a1ap	solute carrier family 4 member 1 adaptor protein	gene	DOID:4362	cervical cancer		ISO	RGD:1316058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8711063	Slc4a1ap	solute carrier family 4 member 1 adaptor protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1316058	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8711063	Slc4a1ap	solute carrier family 4 member 1 adaptor protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711063	Slc4a1ap	solute carrier family 4 member 1 adaptor protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8711063	Slc4a1ap	solute carrier family 4 member 1 adaptor protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8711089	Angpt2	angiopoietin 2	gene	DOID:0001816	angiosarcoma		ISO	RGD:730844	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17569031
8711089	Angpt2	angiopoietin 2	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:730844	D	RGD:9068941	20220811	RGD		protein:increased expression:oral mucosa (human)	PMID:26044849|REF_RGD_ID:153323290
8711089	Angpt2	angiopoietin 2	gene	DOID:0050876	Caroli disease		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:bile duct (rat)	PMID:16628643|REF_RGD_ID:2314213
8711089	Angpt2	angiopoietin 2	gene	DOID:0051061	stroke		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain (rat)	PMID:15637314|REF_RGD_ID:1626166
8711089	Angpt2	angiopoietin 2	gene	DOID:0070658	alcohol-associated liver disease	severity	ISO	RGD:730844	D	RGD:9068941	20200609	RGD			PMID:24959006|REF_RGD_ID:15014784
8711089	Angpt2	angiopoietin 2	gene	DOID:0080600	COVID-19	severity	ISO	RGD:730844	D	RGD:9068941	20200626	RGD		protein:increased expression:plasma (human)	PMID:32458111|REF_RGD_ID:32716385
8711089	Angpt2	angiopoietin 2	gene	DOID:1059	intellectual disability		ISO	RGD:11580996	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868|PMID:28492532|PMID:34670123
8711089	Angpt2	angiopoietin 2	gene	DOID:10762	portal hypertension		ISO	RGD:621861	D	RGD:9068941	20200609	RGD			PMID:19070926|REF_RGD_ID:2314171
8711089	Angpt2	angiopoietin 2	gene	DOID:10808	gastric ulcer		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:stomach (rat)	PMID:12768384|REF_RGD_ID:1601496
8711089	Angpt2	angiopoietin 2	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:1550503	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina (mouse)	PMID:17065527|REF_RGD_ID:2314207
8711089	Angpt2	angiopoietin 2	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:retina (rat)	PMID:17692314|REF_RGD_ID:2314205
8711089	Angpt2	angiopoietin 2	gene	DOID:13025	retinopathy of prematurity	susceptibility	ISO	RGD:621861	D	RGD:9068941	20200609	RGD			PMID:17692314|REF_RGD_ID:2314205
8711089	Angpt2	angiopoietin 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:glomerulus (rat)	PMID:16628643|REF_RGD_ID:2314213
8711089	Angpt2	angiopoietin 2	gene	DOID:2316	brain ischemia		ISO	RGD:621861	D	RGD:9068941	20200609	RGD			PMID:17494864|REF_RGD_ID:2314206
8711089	Angpt2	angiopoietin 2	gene	DOID:2527	nephrosis		ISO	RGD:621861	D	RGD:9068941	20200609	RGD			PMID:18929866|REF_RGD_ID:2314177
8711089	Angpt2	angiopoietin 2	gene	DOID:2527	nephrosis		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney (rat)	PMID:18929864|REF_RGD_ID:2314178
8711089	Angpt2	angiopoietin 2	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:730844	D	RGD:9068941	20200609	RGD			PMID:15705099|REF_RGD_ID:2293853
8711089	Angpt2	angiopoietin 2	gene	DOID:2870	endometrial adenocarcinoma		ISO	RGD:730844	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium epithelium	PMID:17295646|REF_RGD_ID:2293852
8711089	Angpt2	angiopoietin 2	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:621861	D	RGD:9068941	20200609	RGD			PMID:16014048|REF_RGD_ID:2314222
8711089	Angpt2	angiopoietin 2	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:glomerulus (rat)	PMID:18272601|REF_RGD_ID:2314193
8711089	Angpt2	angiopoietin 2	gene	DOID:299	adenocarcinoma		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrum, blood vessels (rat)	PMID:10373119|REF_RGD_ID:2314294
8711089	Angpt2	angiopoietin 2	gene	DOID:3070	high grade glioma		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:brain (rat)	PMID:18615861|REF_RGD_ID:2314189
8711089	Angpt2	angiopoietin 2	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:blood vessel (rat)	PMID:17849463|REF_RGD_ID:2314204
8711089	Angpt2	angiopoietin 2	gene	DOID:326	ischemia		ISO	RGD:621861	D	RGD:9068941	20200609	RGD			PMID:19672036|REF_RGD_ID:2313934
8711089	Angpt2	angiopoietin 2	gene	DOID:4676	uremia		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		mRNA:increased expression:omentum (rat)	PMID:18751736|REF_RGD_ID:2314180
8711089	Angpt2	angiopoietin 2	gene	DOID:4762	vasculogenic impotence		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		associated with Hypercholesterolemia; mRNA, protein:decreased expression:cavernous body of penis (rat)	PMID:16750245|REF_RGD_ID:2314210
8711089	Angpt2	angiopoietin 2	gene	DOID:5844	myocardial infarction		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:left ventricular wall, heart septum (rat)	PMID:16714360|REF_RGD_ID:1601493
8711089	Angpt2	angiopoietin 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:pulmonary artery (rat)	PMID:19712575|REF_RGD_ID:2314185
8711089	Angpt2	angiopoietin 2	gene	DOID:8947	diabetic retinopathy		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:retina (rat)	PMID:16520919|REF_RGD_ID:2314216
8711089	Angpt2	angiopoietin 2	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:bile duct (rat)	PMID:16628643|REF_RGD_ID:2314213
8711089	Angpt2	angiopoietin 2	gene	DOID:9000037	Lymphatic Malformation 10		ISO	RGD:730844	D	RGD:7240710	20210616	OMIM			
8711089	Angpt2	angiopoietin 2	gene	DOID:9000888	Pregnancy in Diabetics		ISO	RGD:730844	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:plasma	PMID:15209761|REF_RGD_ID:2313816
8711089	Angpt2	angiopoietin 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:multiple organs (rat)	PMID:18978178|REF_RGD_ID:2314174
8711089	Angpt2	angiopoietin 2	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:730844	D	RGD:9068941	20260305	CTD		CTD Direct Evidence: marker/mechanism	PMID:41092397
8711089	Angpt2	angiopoietin 2	gene	DOID:9005605	Arteriovenous Fistula		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (rat)	PMID:18692629|REF_RGD_ID:2314184
8711089	Angpt2	angiopoietin 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:15047628|REF_RGD_ID:2313817
8711089	Angpt2	angiopoietin 2	gene	DOID:9005749	Necrosis		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver, stellate cell, macrophage (rat)	PMID:15135347|REF_RGD_ID:2314239
8711089	Angpt2	angiopoietin 2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:myocardium (rat)	PMID:12737621|REF_RGD_ID:1601505
8711089	Angpt2	angiopoietin 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730844	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:15823283|REF_RGD_ID:2313815
8711121	Aste1	asteroid structure-specific endonuclease 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8711121	Aste1	asteroid structure-specific endonuclease 1	gene	DOID:0112182	mismatch repair cancer syndrome		ISO	RGD:1606299	D	RGD:9068941	20220721	RGD		DNA:mutations:cds: (human)	PMID:28218421|REF_RGD_ID:153297765
8711121	Aste1	asteroid structure-specific endonuclease 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:1606299	D	RGD:9068941	20220721	RGD		DNA:mutations:cds: (human)	PMID:28218421|REF_RGD_ID:153297765
8711121	Aste1	asteroid structure-specific endonuclease 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711121	Aste1	asteroid structure-specific endonuclease 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8711142	Nek9	NIMA related kinase 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8711142	Nek9	NIMA related kinase 9	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1316228	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome	PMID:25741868
8711142	Nek9	NIMA related kinase 9	gene	DOID:0061266	lethal congenital contracture syndrome 10		ISO	RGD:1316228	D	RGD:7240710	20190315	OMIM			
8711142	Nek9	NIMA related kinase 9	gene	DOID:0061266	lethal congenital contracture syndrome 10		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 10	PMID:16199547|PMID:25741868|PMID:26908619|PMID:28492532|PMID:29096039
8711142	Nek9	NIMA related kinase 9	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868
8711142	Nek9	NIMA related kinase 9	gene	DOID:10283	prostate cancer		ISO	RGD:1316228	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8711142	Nek9	NIMA related kinase 9	gene	DOID:10283	prostate cancer		ISO	RGD:1316228	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8711142	Nek9	NIMA related kinase 9	gene	DOID:10534	stomach cancer		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8711142	Nek9	NIMA related kinase 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:16199547|PMID:25741868|PMID:26908619|PMID:28492532|PMID:29096039
8711142	Nek9	NIMA related kinase 9	gene	DOID:1115	sarcoma		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8711142	Nek9	NIMA related kinase 9	gene	DOID:11836	clubfoot		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
8711142	Nek9	NIMA related kinase 9	gene	DOID:1324	lung cancer		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:16199547|PMID:25741868|PMID:26908619|PMID:28492532|PMID:29096039
8711142	Nek9	NIMA related kinase 9	gene	DOID:1909	melanoma		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8711142	Nek9	NIMA related kinase 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1316228	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8711142	Nek9	NIMA related kinase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711142	Nek9	NIMA related kinase 9	gene	DOID:630	genetic disease		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:31131953
8711142	Nek9	NIMA related kinase 9	gene	DOID:674	cleft palate		ISO	RGD:1316228	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cleft palate	
8711142	Nek9	NIMA related kinase 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8711142	Nek9	NIMA related kinase 9	gene	DOID:9000197	Edema		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema	PMID:25741868
8711142	Nek9	NIMA related kinase 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8711142	Nek9	NIMA related kinase 9	gene	DOID:9007185	Shprintzen-Goldberg Craniosynostosis		ISO	RGD:1316228	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome	PMID:25741868
8711142	Nek9	NIMA related kinase 9	gene	DOID:9008794	ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY		ISO	RGD:1316228	D	RGD:7240710	20190315	OMIM			
8711142	Nek9	NIMA related kinase 9	gene	DOID:9008794	ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY		ISO	RGD:1316228	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy	PMID:25741868
8711142	Nek9	NIMA related kinase 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8711142	Nek9	NIMA related kinase 9	gene	DOID:9009038	Nevus Comedonicus		ISO	RGD:1316228	D	RGD:7240710	20190315	OMIM			
8711142	Nek9	NIMA related kinase 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8711184	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8711184	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8711184	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:0080918	polymicrogyria		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868|PMID:39879987
8711184	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8711184	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1350415	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: intellectual disability	PMID:25741868
8711184	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:1115	sarcoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8711184	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:1324	lung cancer		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8711184	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:1909	melanoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8711184	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:39879987
8711184	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:3275	thymoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8711184	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8711184	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8711184	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8711184	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8711184	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350415	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8711184	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8711184	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711184	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8711184	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8711184	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:39879987
8711184	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8711236	Tulp1	TUB like protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8711236	Tulp1	TUB like protein 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1322319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:15024725|PMID:19339744|PMID:23847139|PMID:24265693|PMID:25074776|PMID:25342620|PMID:25741868|PMID:26047050|PMID:28492532|PMID:29843741|PMID:31549751|PMID:32531858|PMID:34588515|PMID:36729443|PMID:38841332
8711236	Tulp1	TUB like protein 1	gene	DOID:0110078	Leber congenital amaurosis 1		ISO	RGD:1322319	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis 1	PMID:17620573|PMID:21792230|PMID:23661368|PMID:25741868|PMID:26856745|PMID:28492532|PMID:28559085|PMID:29178942|PMID:33691693|PMID:33851411
8711236	Tulp1	TUB like protein 1	gene	DOID:0110189	Leber congenital amaurosis 15		ISO	RGD:1322319	D	RGD:7240710	20180130	OMIM			
8711236	Tulp1	TUB like protein 1	gene	DOID:0110189	Leber congenital amaurosis 15		ISO	RGD:1322319	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LEBER CONGENITAL AMAUROSIS 15 | ClinVar Annotator: match by term: Leber congenital amaurosis 15 | ClinVar Annotator: match by term: TULP1-related condition	PMID:10549638|PMID:15024725|PMID:17576681|PMID:18055821|PMID:19339744|PMID:21792230|PMID:22665969|PMID:23847139|PMID:24154662|PMID:24265693|PMID:25074776|PMID:25342620|PMID:25741868|PMID:26047050|PMID:26448634|PMID:26856745|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29641573|PMID:29843741|PMID:30902645|PMID:30950243|PMID:31087526|PMID:31549751|PMID:31630094|PMID:3203739|PMID:32037395|PMID:32531858|PMID:33576794|PMID:34588515|PMID:36729443|PMID:36819107|PMID:38841332|PMID:38892339|PMID:8606774|PMID:9462750|PMID:9536098
8711236	Tulp1	TUB like protein 1	gene	DOID:0110381	retinitis pigmentosa 14		ISO	RGD:1322319	D	RGD:7240710	20180130	OMIM			
8711236	Tulp1	TUB like protein 1	gene	DOID:0110381	retinitis pigmentosa 14		ISO	RGD:1322319	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 14 | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED | ClinVar Annotator: match by term: Retinitis pigmentosa 14	PMID:10549638|PMID:15024725|PMID:16199547|PMID:17576681|PMID:17620573|PMID:18055821|PMID:19339744|PMID:22665969|PMID:23661368|PMID:23847139|PMID:24154662|PMID:24265693|PMID:25074776|PMID:25268133|PMID:25342620|PMID:2552515|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26427415|PMID:26987071|PMID:28492532|PMID:29843741|PMID:30950243|PMID:31213501|PMID:31429209|PMID:31549751|PMID:3203739|PMID:32037395|PMID:32531858|PMID:33921607|PMID:34588515|PMID:34906470|PMID:36284460|PMID:36729443|PMID:38540785|PMID:38841332|PMID:8606774|PMID:9462750|PMID:9536098
8711236	Tulp1	TUB like protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322319	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10440267|PMID:10549638|PMID:15024725|PMID:15557452|PMID:17576681|PMID:17962469|PMID:18055821|PMID:18432314|PMID:18936139|PMID:22605927|PMID:23105016|PMID:23847139|PMID:24033266|PMID:24265693|PMID:25324289|PMID:25342276|PMID:25342620|PMID:25692139|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26766544|PMID:28127548|PMID:28492532|PMID:28981474|PMID:29625443|PMID:29843741|PMID:30054919|PMID:30337596|PMID:30718709|PMID:31630094|PMID:32531858|PMID:32901917|PMID:33090715|PMID:33173045|PMID:33576794|PMID:33946315|PMID:34906470|PMID:36909829|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588
8711236	Tulp1	TUB like protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322319	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10549638|PMID:15024725|PMID:15557452|PMID:17576681|PMID:18055821|PMID:25324289|PMID:25741868|PMID:26355662|PMID:28492532|PMID:28981474|PMID:30337596|PMID:30718709|PMID:32037395|PMID:32901917|PMID:33090715|PMID:33691693|PMID:33946315|PMID:34906470|PMID:36819107|PMID:36909829|PMID:8606774|PMID:9462751|PMID:9536098
8711236	Tulp1	TUB like protein 1	gene	DOID:11830	myopia		ISO	RGD:1322319	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:29178942
8711236	Tulp1	TUB like protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1322319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8711236	Tulp1	TUB like protein 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1322319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis	PMID:10549638|PMID:15024725|PMID:17620573|PMID:18055821|PMID:19339744|PMID:22665969|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24474277|PMID:25074776|PMID:25741868|PMID:26103963|PMID:28492532|PMID:29843741|PMID:30950243|PMID:31456290|PMID:31549751|PMID:31736247|PMID:32531858|PMID:33921607|PMID:34588515|PMID:34906470|PMID:38540785|PMID:38841332|PMID:8606774
8711236	Tulp1	TUB like protein 1	gene	DOID:3275	thymoma		ISO	RGD:1322319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8711236	Tulp1	TUB like protein 1	gene	DOID:630	genetic disease		ISO	RGD:1322319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8711236	Tulp1	TUB like protein 1	gene	DOID:8499	night blindness		ISO	RGD:1322319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Night blindness	PMID:25342620|PMID:25741868|PMID:26047050|PMID:28492532|PMID:29843741|PMID:36729443
8711236	Tulp1	TUB like protein 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1322319	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10549638|PMID:15024725|PMID:17576681|PMID:18055821|PMID:18432314|PMID:18936139|PMID:19339744|PMID:20065226|PMID:21987678|PMID:22605927|PMID:23591405|PMID:23847139|PMID:24154662|PMID:24265693|PMID:24547928|PMID:25074776|PMID:25268133|PMID:25342620|PMID:25741868|PMID:26047050|PMID:27375279|PMID:27440997|PMID:28418496|PMID:28492532|PMID:29068479|PMID:29178642|PMID:29641573|PMID:29843741|PMID:31054281|PMID:31213501|PMID:31456290|PMID:31549751|PMID:31589614|PMID:31736247|PMID:31816670|PMID:31877759|PMID:31964843|PMID:3203739|PMID:32037395|PMID:32531858|PMID:33173045|PMID:33749171|PMID:33781268|PMID:33921607|PMID:34426522|PMID:34588515|PMID:34758253|PMID:35672425|PMID:36284460|PMID:36460718|PMID:36729443|PMID:37510321|PMID:38841332|PMID:8606774|PMID:9462750|PMID:9536098|PMID:9660588
8711236	Tulp1	TUB like protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8711236	Tulp1	TUB like protein 1	gene	DOID:9649	congenital nystagmus		ISO	RGD:1322319	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital nystagmus	PMID:25741868|PMID:29178942
8711254	St7	suppression of tumorigenicity 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8711254	St7	suppression of tumorigenicity 7	gene	DOID:10534	stomach cancer		ISO	RGD:1343912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8711254	St7	suppression of tumorigenicity 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8711254	St7	suppression of tumorigenicity 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8711254	St7	suppression of tumorigenicity 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8711254	St7	suppression of tumorigenicity 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1343912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1316413	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy	PMID:18813041|PMID:20301325|PMID:21878807|PMID:21918424|PMID:22473935|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy	PMID:25741868
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0050567	orofacial cleft		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:22473935|PMID:25741868|PMID:25960145|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0050646	distal arthrogryposis		ISO	RGD:1316413	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Distal arthrogryposis	PMID:25741868
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1316413	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:25741868|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	PMID:25741868|PMID:28492532|PMID:30236257
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0050840	cervical dystonia		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:23919265|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30611313
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0060249	scoliosis		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:15731587|PMID:16621918|PMID:16732084|PMID:16835904|PMID:16917943|PMID:17483490|PMID:18253926|PMID:19191329|PMID:19191333|PMID:19645060|PMID:19685112|PMID:20142353|PMID:21062345|PMID:21282829|PMID:21455645|PMID:21911697|PMID:22473935|PMID:22992668|PMID:23069638|PMID:23394784|PMID:23553787|PMID:23558838|PMID:23919265|PMID:24033266|PMID:24091937|PMID:25658027|PMID:25741868|PMID:25960145|PMID:26381711|PMID:27447704|PMID:28492532|PMID:30236257|PMID:31517061|PMID:33564012|PMID:34106991|PMID:35849058|PMID:36833224
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0060260	ptosis		ISO	RGD:1316413	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:26467025|PMID:28492532|PMID:30236257
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0060648	anterior segment dysgenesis		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES	PMID:18414213|PMID:20681998|PMID:22473935|PMID:23394784|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24950660|PMID:25214167|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25958340|PMID:25960145|PMID:26019235|PMID:26332594|PMID:26467025|PMID:28259615|PMID:28492532|PMID:29701772|PMID:30611313|PMID:30932294|PMID:31206373|PMID:31517061|PMID:32236737|PMID:33726816|PMID:33767344|PMID:34008892|PMID:35428369|PMID:35948506|PMID:36628841|PMID:37643885
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0070056	autosomal dominant intellectual developmental disorder 26		ISO	RGD:1316413	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 26	PMID:11575529|PMID:12565913|PMID:1354642|PMID:15448513|PMID:18564801|PMID:19346234|PMID:19648156|PMID:19890226|PMID:19931341|PMID:20461000|PMID:23558838|PMID:23919265|PMID:25741868|PMID:27855725|PMID:27857962|PMID:28492532|PMID:30236257|PMID:6917943|PMID:9334205|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0070272	hereditary nonpolyposis colorectal cancer type 5		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5	PMID:11709545|PMID:16917943|PMID:17204937|PMID:21118704|PMID:25741868|PMID:28492532|PMID:35081925|PMID:35428369|PMID:36283893
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1316413	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:11575529|PMID:12565913|PMID:1354642|PMID:15448513|PMID:18564801|PMID:19346234|PMID:19648156|PMID:19890226|PMID:19931341|PMID:20461000|PMID:23558838|PMID:23919265|PMID:25741868|PMID:27855725|PMID:27857962|PMID:28492532|PMID:30236257|PMID:6917943|PMID:9334205|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080000	muscular disease		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: muscle disorder	
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080073	spina bifida occulta		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spina bifida occulta	PMID:16621918|PMID:16732084|PMID:16835904|PMID:16917943|PMID:17483490|PMID:19685112|PMID:20142353|PMID:21282829|PMID:22992668|PMID:23558838|PMID:25741868|PMID:25960145|PMID:26381711|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1316413	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35599849|PMID:36208971|PMID:36628841|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1316413	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy 4A, autosomal dominant | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25944380|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:36208971|PMID:36283893|PMID:36628841|PMID:37273706|PMID:37510298|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1316413	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy 4A, autosomal dominant | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1316413	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy 4A, autosomal dominant | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25944380|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35697689|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37937776|PMID:4149045|PMID:7299413
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1316413	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy 4A, autosomal dominant | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1316413	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy 4A, autosomal dominant | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35697689|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37937776|PMID:4149045|PMID:7299413
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1316413	D	RGD:8554872	20250218	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:26972305|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34707284|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35697689|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698|PMID:36939041|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37937776|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1316413	D	RGD:8554872	20250218	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1316413	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25944380|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:26972305|PMID:26994242|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33124102|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34707284|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35697689|PMID:35718563|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1316413	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:36833224|PMID:36939041|PMID:37273706|PMID:37432431|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37838930|PMID:37937776|PMID:39825153|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1316413	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22851008|PMID:22992668|PMID:23035052|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:26972305|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33124102|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34707284|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35697689|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698|PMID:36833224|PMID:36939041|PMID:37273706|PMID:37432431|PMID:37510298|PMID:37541188|PMID:37643885|PMID:37712079|PMID:37838930|PMID:37937776|PMID:38127101|PMID:39825153
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1316413	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders	PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber type disproportion | ClinVar Annotator: match by term: Congenital myopathy 4A, autosomal dominant | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12486242|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16372898|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16958617|PMID:17033962|PMID:17081152|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18193641|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19648156|PMID:19825159|PMID:20080402|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26188342|PMID:26332594|PMID:26467025|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27452334|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27854218|PMID:27855725|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28403410|PMID:28492532|PMID:28686619|PMID:28687594|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30872186|PMID:30932294|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31564432|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32008650|PMID:32054689|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32969603|PMID:32978841|PMID:33176865|PMID:33190635|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34627702|PMID:34645488|PMID:35081925|PMID:35178478|PMID:35428369|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35697689|PMID:35718563|PMID:35948506|PMID:36516687|PMID:36628841|PMID:36833224|PMID:36939041|PMID:37510298|PMID:37541188|PMID:37643885|PMID:37670077|PMID:37712079|PMID:37937776|PMID:38127101|PMID:38982518|PMID:39891418|PMID:39966651|PMID:41153347|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:8220423|PMID:8592342|PMID:8602662|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080111	mitochondrial complex III deficiency nuclear type 1		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Decreased activity of mitochondrial complex III	PMID:25741868|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080612	anterior segment dysgenesis 7		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES	PMID:18414213|PMID:20681998|PMID:22473935|PMID:23394784|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24950660|PMID:25214167|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25958340|PMID:25960145|PMID:26019235|PMID:26332594|PMID:26467025|PMID:28259615|PMID:28492532|PMID:29701772|PMID:30611313|PMID:30932294|PMID:31206373|PMID:31517061|PMID:32236737|PMID:33726816|PMID:33767344|PMID:34008892|PMID:35428369|PMID:35948506|PMID:36628841|PMID:37643885
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080700	caudal regression syndrome		ISO	RGD:1316413	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Agenesis of sacrum	PMID:10484775|PMID:11575529|PMID:12059893|PMID:12220451|PMID:12434264|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16835904|PMID:16917943|PMID:17081152|PMID:18505122|PMID:18564|PMID:19648156|PMID:19919814|PMID:21118704|PMID:21514828|PMID:22696611|PMID:23558838|PMID:23919265|PMID:24033266|PMID:24433488|PMID:25268394|PMID:25558065|PMID:25735680|PMID:25741868|PMID:25960145|PMID:27586648|PMID:28492532|PMID:30236257|PMID:31206373|PMID:31559918|PMID:9497245
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080718	GNE myopathy		ISO	RGD:1316413	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing	PMID:25741868|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1316413	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndrome	PMID:19454545|PMID:20301325|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23826317|PMID:23919265|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:26188342|PMID:26332594|PMID:27382027|PMID:27452334|PMID:28492532|PMID:28818389|PMID:29298851|PMID:29635721|PMID:30236257|PMID:30406384|PMID:30652412|PMID:31407473|PMID:31680123|PMID:32008650|PMID:32978841|PMID:33190635|PMID:34463354|PMID:34627702|PMID:35548885|PMID:36516687|PMID:36833224|PMID:36939041|PMID:38127101
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080990	King Denborough syndrome		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: KING-DENBOROUGH SYNDROME | ClinVar Annotator: match by term: King Denborough syndrome	PMID:10051009|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12486242|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16372898|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18193641|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19648156|PMID:19825159|PMID:20080402|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22415532|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25214167|PMID:25268394|PMID:25476234|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26188342|PMID:26332594|PMID:26467025|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27452334|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27831900|PMID:27854218|PMID:27855725|PMID:28063098|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28492532|PMID:28686619|PMID:28687594|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30872186|PMID:30932294|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31564432|PMID:31589614|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32008650|PMID:32054689|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33176865|PMID:33190635|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34627702|PMID:34645488|PMID:35081925|PMID:35304488|PMID:35361824|PMID:35428369|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35697689|PMID:35718563|PMID:35948506|PMID:36516687|PMID:36628841|PMID:36833224|PMID:36939041|PMID:37510298|PMID:37510394|PMID:37541188|PMID:37643885|PMID:37670077|PMID:37937776|PMID:38127101|PMID:38982518|PMID:39891418|PMID:39966651|PMID:41153347|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7849712|PMID:7881417|PMID:8220423|PMID:8592342|PMID:8602662|PMID:8661021|PMID:9030597|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080990	King Denborough syndrome	susceptibility	ISO	RGD:1316413	D	RGD:7240710	20260729	OMIM			
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080991	congenital myopathy 1B		ISO	RGD:1316413	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy	PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080991	congenital myopathy 1B		ISO	RGD:1316413	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:10888602|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12719381|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19807743|PMID:19825159|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26467025|PMID:26565425|PMID:26633545|PMID:26841830|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27854218|PMID:28003660|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35535697|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8828983|PMID:9334205
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080991	congenital myopathy 1B		ISO	RGD:1316413	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Congenital myopathy 1B, autosomal recessive | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy	PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34625927|PMID:34645488|PMID:34809703|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35549722|PMID:35599849|PMID:35627144|PMID:36208971|PMID:36283893|PMID:36628841|PMID:37273706|PMID:37510298|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8010475|PMID:8401544|PMID:8602662|PMID:8828983|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080991	congenital myopathy 1B		ISO	RGD:1316413	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Congenital myopathy 1B, autosomal recessive | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12112081|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12719381|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564|PMID:18564801|PMID:18719443|PMID:18813041|PMID:18945287|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22696611|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25370123|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26841830|PMID:26951757|PMID:26972305|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29629541|PMID:29635721|PMID:29667327|PMID:29701772|PMID:29792937|PMID:29802573|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080991	congenital myopathy 1B		ISO	RGD:1316413	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Congenital myopathy 1B, autosomal recessive | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy	PMID:31055738|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32304219|PMID:32371413|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33037202|PMID:33146414|PMID:33176865|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34595679|PMID:34625927|PMID:34645488|PMID:34707284|PMID:34809703|PMID:34849273|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35361824|PMID:35428369|PMID:35535697|PMID:35549722|PMID:35587316|PMID:35599849|PMID:35627144|PMID:35693006|PMID:35697689|PMID:35718563|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698|PMID:36983702|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37787745|PMID:37937776|PMID:38582058|PMID:39033378|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9030597|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080991	congenital myopathy 1B		ISO	RGD:1316413	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Congenital myopathy 1B, autosomal recessive | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12112081|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12719381|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564|PMID:18564801|PMID:18719443|PMID:18813041|PMID:18945287|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22696611|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25370123|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25882082|PMID:25944380|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26841830|PMID:26951757|PMID:26972305|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29629541|PMID:29635721|PMID:29667327|PMID:29701772|PMID:29792937|PMID:29802573|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080991	congenital myopathy 1B		ISO	RGD:1316413	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Congenital myopathy 1B, autosomal recessive | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy	PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32304219|PMID:32371413|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33037202|PMID:33124102|PMID:33146414|PMID:33176865|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34595679|PMID:34625927|PMID:34645488|PMID:34707284|PMID:34809703|PMID:34849273|PMID:34904211|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35535697|PMID:35549722|PMID:35587316|PMID:35599849|PMID:35627144|PMID:35693006|PMID:35697689|PMID:35718563|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698|PMID:36833224|PMID:36983702|PMID:37273706|PMID:37432431|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37787745|PMID:37838930|PMID:37937776|PMID:38582058|PMID:39033378|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9030597|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080991	congenital myopathy 1B		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Congenital myopathy 1B, autosomal recessive | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: MULTIMINICORE DISEASE WITH EXTERNAL OPHTHALMOPLEGIA | ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12486242|PMID:12565913|PMID:12642598|PMID:12668474|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16372898|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18193641|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18813041|PMID:18945287|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19648156|PMID:19825159|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25611019|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25642631|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25882082|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26188342|PMID:26332594|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26799446|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27452334|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27831900|PMID:27854218|PMID:27855725|PMID:28063098|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28686619|PMID:28687594|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:30932294|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31564432|PMID:31589614|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32008650|PMID:32054689|PMID:32236737|PMID:32371413|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32969603|PMID:32978841|PMID:33146414|PMID:33176865|PMID:33190635|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34627702|PMID:34645488|PMID:35081925|PMID:35361824|PMID:35428369|PMID:35548885
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080991	congenital myopathy 1B		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Congenital myopathy 1B, autosomal recessive | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: MULTIMINICORE DISEASE WITH EXTERNAL OPHTHALMOPLEGIA | ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy	PMID:35549722|PMID:35599849|PMID:35627144|PMID:35628876|PMID:35693006|PMID:35697689|PMID:35718563|PMID:35948506|PMID:36516687|PMID:36628841|PMID:36833224|PMID:36939041|PMID:36964972|PMID:37510298|PMID:37510394|PMID:37541188|PMID:37643885|PMID:37670077|PMID:37712079|PMID:37937776|PMID:38002952|PMID:38127101|PMID:38162159|PMID:38982518|PMID:39891418|PMID:39966651|PMID:41153347|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7849712|PMID:7881417|PMID:8010475|PMID:8220423|PMID:8592342|PMID:8602662|PMID:8661021|PMID:9030597|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080991	congenital myopathy 1B	susceptibility	ISO	RGD:1316413	D	RGD:7240710	20260729	OMIM			
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0080992	rhabdomyolysis-myalgia syndrome		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhabdomyolysis-myalgia syndrome	PMID:25741868
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0081337	congenital myopathy		ISO	RGD:1316413	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar Annotator: match by term: Congenital myopathy	PMID:17033962|PMID:18414213|PMID:20080402|PMID:20583297|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23035052|PMID:23394784|PMID:23553787|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24195946|PMID:25428687|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:26019235|PMID:26332594|PMID:27382027|PMID:28492532|PMID:28818389|PMID:30122538|PMID:30325262|PMID:30652412|PMID:30724636|PMID:31407473|PMID:31680123|PMID:32054689|PMID:32236737|PMID:32978841|PMID:33458582|PMID:33767344|PMID:34463354
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0081337	congenital myopathy		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital myopathy | ClinVar Annotator: match by term: Myopathy, congenital | ClinVar Annotator: match by term: congenital myopathy	PMID:10097181|PMID:11709545|PMID:11741831|PMID:12642598|PMID:15175001|PMID:17033962|PMID:17081152|PMID:1743490|PMID:17483490|PMID:18564801|PMID:20301325|PMID:20839240|PMID:20888934|PMID:21062345|PMID:21825032|PMID:21911697|PMID:22203976|PMID:22473935|PMID:22992668|PMID:23394784|PMID:23919265|PMID:24088041|PMID:24195946|PMID:24561095|PMID:25084811|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:25989378|PMID:26188342|PMID:26332594|PMID:26633545|PMID:27382027|PMID:27452334|PMID:28492532|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29635721|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30611313|PMID:30652412|PMID:30724636|PMID:31055738|PMID:31107960|PMID:31135626|PMID:31321302|PMID:31407473|PMID:31680123|PMID:32008650|PMID:32153140|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32978841|PMID:33190635|PMID:34463354|PMID:34627702|PMID:35548885|PMID:36516687|PMID:36833224|PMID:36939041|PMID:37670077|PMID:37712079|PMID:37937776|PMID:38127101
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0110334	osteogenesis imperfecta type 1		ISO	RGD:1316413	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta	PMID:16199547|PMID:23919265|PMID:25741868|PMID:25944380|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30611313
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0110633	rigid spine muscular dystrophy 1		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis | ClinVar Annotator: match by term: Multiminicore/minicore/multicore disease	PMID:17033962|PMID:18414213|PMID:20080402|PMID:21674524|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23553787|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24950660|PMID:24951453|PMID:25214167|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25958340|PMID:25960145|PMID:26019235|PMID:26332594|PMID:26467025|PMID:26578207|PMID:26633545|PMID:27854218|PMID:28259615|PMID:28269792|PMID:28492532|PMID:28818389|PMID:30155738|PMID:30609409|PMID:30611313|PMID:30932294|PMID:31206373|PMID:31517061|PMID:31564432|PMID:31680349|PMID:32236737|PMID:32403337|PMID:32528171|PMID:33176865|PMID:33333461|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34008892|PMID:35428369|PMID:35948506|PMID:36628841|PMID:36833224|PMID:37643885|PMID:37937776
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:20583297|PMID:20839240|PMID:23919265|PMID:25741868|PMID:28492532|PMID:28818389
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0110838	Usher syndrome type 2A		ISO	RGD:1316413	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: USH2A-related disorder	PMID:25741868|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:11873057|PMID:21118704|PMID:23558838|PMID:25741868|PMID:25958340|PMID:28492532|PMID:35697689
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0111193	facioscapulohumeral muscular dystrophy 2		ISO	RGD:1316413	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Weakness of facial musculature	PMID:23826317|PMID:23919265|PMID:25741868|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30611313
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0111217	autosomal dominant centronuclear myopathy		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy	PMID:25658027|PMID:25741868|PMID:28492532|PMID:30236257|PMID:32054689
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0111338	isolated elevated serum creatine phosphokinase levels		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC	PMID:24195946|PMID:25741868|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1316413	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence	PMID:20301325|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23919265|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:26188342|PMID:26332594|PMID:27382027|PMID:27452334|PMID:28492532|PMID:29298851|PMID:29635721|PMID:30406384|PMID:30652412|PMID:31407473|PMID:31680123|PMID:32008650|PMID:32978841|PMID:33190635|PMID:34463354|PMID:34627702|PMID:35548885|PMID:36516687|PMID:36833224|PMID:36939041|PMID:38127101
8711305	Ryr1	ryanodine receptor 1	gene	DOID:0111593	distal arthrogryposis type 10		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plantar flexion contracture	PMID:25741868|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8711305	Ryr1	ryanodine receptor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:25658027|PMID:25741868|PMID:28492532|PMID:30236257
8711305	Ryr1	ryanodine receptor 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:1316413	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
8711305	Ryr1	ryanodine receptor 1	gene	DOID:10892	hypospadias		ISO	RGD:1316413	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:20301325|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23919265|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:26188342|PMID:26332594|PMID:27382027|PMID:27452334|PMID:28492532|PMID:29298851|PMID:29635721|PMID:30406384|PMID:30652412|PMID:31407473|PMID:31680123|PMID:32008650|PMID:32978841|PMID:33190635|PMID:34463354|PMID:34627702|PMID:35548885|PMID:36516687|PMID:36833224|PMID:36939041|PMID:38127101
8711305	Ryr1	ryanodine receptor 1	gene	DOID:10907	microcephaly		ISO	RGD:1316413	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:11575529|PMID:12565913|PMID:1354642|PMID:15448513|PMID:18564801|PMID:19346234|PMID:19648156|PMID:19890226|PMID:19931341|PMID:20461000|PMID:22473935|PMID:23558838|PMID:23919265|PMID:25741868|PMID:25960145|PMID:27234031|PMID:27855725|PMID:27857962|PMID:28492532|PMID:28818389|PMID:30236257|PMID:6917943|PMID:9334205|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:11111	hydronephrosis		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:23919265|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30611313
8711305	Ryr1	ryanodine receptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8711305	Ryr1	ryanodine receptor 1	gene	DOID:11162	respiratory failure		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure | ClinVar Annotator: match by term: Respiratory insufficiency	PMID:20301325|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23919265|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:26188342|PMID:26332594|PMID:27382027|PMID:27452334|PMID:28492532|PMID:29298851|PMID:29635721|PMID:30406384|PMID:30652412|PMID:31407473|PMID:31680123|PMID:32008650|PMID:32978841|PMID:33190635|PMID:34463354|PMID:34625927|PMID:34627702|PMID:35548885|PMID:36307859|PMID:36516687|PMID:36833224|PMID:36939041|PMID:38127101|PMID:39825153
8711305	Ryr1	ryanodine receptor 1	gene	DOID:11162	respiratory failure		ISO	RGD:1316413	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Respiratory failure | ClinVar Annotator: match by term: Respiratory insufficiency	PMID:20301325|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23919265|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:26188342|PMID:26332594|PMID:27382027|PMID:27452334|PMID:28492532|PMID:29298851|PMID:29635721|PMID:30406384|PMID:30652412|PMID:31407473|PMID:31680123|PMID:32008650|PMID:32978841|PMID:33190635|PMID:34463354|PMID:34625927|PMID:34627702|PMID:35548885|PMID:36307859|PMID:36516687|PMID:36833224|PMID:36939041|PMID:38127101
8711305	Ryr1	ryanodine receptor 1	gene	DOID:11252	microcytic anemia		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcytic anemia	PMID:23919265|PMID:25741868|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30611313
8711305	Ryr1	ryanodine receptor 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:20839240|PMID:25741868|PMID:28492532|PMID:32403337|PMID:33333461|PMID:33458582
8711305	Ryr1	ryanodine receptor 1	gene	DOID:11476	osteoporosis		ISO	RGD:1316413	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:25741868|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:11714	gestational diabetes		ISO	RGD:1316413	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
8711305	Ryr1	ryanodine receptor 1	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:17033962|PMID:1743490|PMID:17483490|PMID:21062345|PMID:22473935|PMID:23919265|PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:29172004|PMID:30155738|PMID:30611313|PMID:31055738|PMID:31107960|PMID:32236737|PMID:32403337|PMID:37670077
8711305	Ryr1	ryanodine receptor 1	gene	DOID:11830	myopia		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:11873057|PMID:21118704|PMID:23558838|PMID:25741868|PMID:25958340|PMID:28492532|PMID:35697689
8711305	Ryr1	ryanodine receptor 1	gene	DOID:12698	gynecomastia		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gynecomastia	PMID:10051009|PMID:10352931|PMID:10484775|PMID:10756965|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:12059893|PMID:12124989|PMID:12151923|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14985404|PMID:1510267|PMID:15448513|PMID:16163667|PMID:16732090|PMID:16835904|PMID:16917943|PMID:17081152|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18502356|PMID:18564801|PMID:19191333|PMID:19648156|PMID:20681998|PMID:21455645|PMID:21795085|PMID:22992668|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24195946|PMID:24433488|PMID:25268394|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25960145|PMID:25989378|PMID:26115329|PMID:26951757|PMID:27382027|PMID:27646467|PMID:27855725|PMID:28492532|PMID:29382405|PMID:29635721|PMID:30236257|PMID:30406384|PMID:30611313|PMID:31016048|PMID:31206373|PMID:31447099|PMID:32528171|PMID:32665702|PMID:33458582|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:8602662|PMID:9334205|PMID:9389851|PMID:9497245|PMID:9520251|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:12849	autistic disorder		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
8711305	Ryr1	ryanodine receptor 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:11873057|PMID:18253926|PMID:19015156|PMID:19825159|PMID:21118704|PMID:22473935|PMID:23127960|PMID:23460944|PMID:23558838|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25741868|PMID:25958340|PMID:25960145|PMID:26332594|PMID:26467025|PMID:27153395|PMID:28492532|PMID:30236257|PMID:30325262|PMID:30611313|PMID:30788618|PMID:31127727|PMID:31559918|PMID:32054689|PMID:33258288|PMID:34463354|PMID:36833224|PMID:37945484|PMID:40192509
8711305	Ryr1	ryanodine receptor 1	gene	DOID:13100	intracranial vasospasm		ISO	RGD:1316413	D	RGD:9068941	20230520	RGD		associated with Subarachnoid Hemorrhage;  c.6178G>T(rs35364374)(human)	PMID:21503806|REF_RGD_ID:329811998
8711305	Ryr1	ryanodine receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8711305	Ryr1	ryanodine receptor 1	gene	DOID:1389	polyneuropathy		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Motor polyneuropathy	PMID:11524458|PMID:12059893|PMID:12124989|PMID:15108991|PMID:16163667|PMID:16732084|PMID:16835904|PMID:16917943|PMID:17081152|PMID:17710899|PMID:19513315|PMID:19648156|PMID:19658156|PMID:20681998|PMID:21118704|PMID:21965348|PMID:22992668|PMID:23842196|PMID:25256590|PMID:25741868|PMID:25989378|PMID:27586648|PMID:28492532|PMID:28687594|PMID:30236257|PMID:32919876|PMID:8220422|PMID:9334205|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:1316413	D	RGD:9068941	20230520	RGD		protein:increased phosphorylation:vastus lateralis	PMID:23972212|REF_RGD_ID:329812002
8711305	Ryr1	ryanodine receptor 1	gene	DOID:1459	hypothyroidism		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:14717	centronuclear myopathy		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Centronuclear myopathy | ClinVar Annotator: match by term: Myotubular myopathy	PMID:15221887|PMID:16199547|PMID:17576681|PMID:18253926|PMID:19191333|PMID:19454545|PMID:19825159|PMID:20583297|PMID:20681998|PMID:20839240|PMID:21062345|PMID:22473935|PMID:22752422|PMID:23329375|PMID:23553484|PMID:23558838|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24195946|PMID:25214167|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25960145|PMID:26332594|PMID:27855725|PMID:28224104|PMID:28269792|PMID:28492532|PMID:28818389|PMID:30236257|PMID:30611313|PMID:30788618|PMID:31903994|PMID:33333461|PMID:33767344|PMID:35428369|PMID:35627144|PMID:35628876|PMID:36833224|PMID:37937776|PMID:38162159|PMID:38982518|PMID:9536098
8711305	Ryr1	ryanodine receptor 1	gene	DOID:1596	depressive disorder		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Depression	PMID:18253926|PMID:19015156|PMID:19825159|PMID:22473935|PMID:23127960|PMID:23460944|PMID:23558838|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25741868|PMID:25960145|PMID:26332594|PMID:26467025|PMID:27153395|PMID:28492532|PMID:30236257|PMID:30325262|PMID:30611313|PMID:30788618|PMID:31127727|PMID:31559918|PMID:32054689|PMID:33258288|PMID:34463354|PMID:35697689|PMID:36833224|PMID:37945484|PMID:40192509
8711305	Ryr1	ryanodine receptor 1	gene	DOID:1824	status epilepticus		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:25741868|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:1826	epilepsy		ISO	RGD:1316413	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:11575529|PMID:12565913|PMID:1354642|PMID:15448513|PMID:18564801|PMID:19346234|PMID:19648156|PMID:19890226|PMID:19931341|PMID:20461000|PMID:23558838|PMID:23919265|PMID:25658027|PMID:25741868|PMID:27855725|PMID:27857962|PMID:28492532|PMID:30236257|PMID:6917943|PMID:9334205|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:1909	melanoma		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:18253926|PMID:19015156|PMID:19825159|PMID:22473935|PMID:23127960|PMID:23460944|PMID:23558838|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25741868|PMID:25960145|PMID:26332594|PMID:26467025|PMID:27153395|PMID:28492532|PMID:30236257|PMID:30325262|PMID:30611313|PMID:30788618|PMID:31127727|PMID:31559918|PMID:32054689|PMID:33258288|PMID:34463354|PMID:36833224|PMID:37945484|PMID:40192509
8711305	Ryr1	ryanodine receptor 1	gene	DOID:1924	hypogonadism		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:11873057|PMID:21118704|PMID:23558838|PMID:25741868|PMID:25958340|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:18253926|PMID:19015156|PMID:19825159|PMID:22473935|PMID:23127960|PMID:23460944|PMID:23558838|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25741868|PMID:25960145|PMID:26332594|PMID:26467025|PMID:27153395|PMID:28492532|PMID:30236257|PMID:30325262|PMID:30611313|PMID:30788618|PMID:31127727|PMID:31559918|PMID:32054689|PMID:33258288|PMID:34463354|PMID:35697689|PMID:36833224|PMID:37945484|PMID:40192509
8711305	Ryr1	ryanodine receptor 1	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1316413	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant	PMID:25741868
8711305	Ryr1	ryanodine receptor 1	gene	DOID:219	colon cancer		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:25741868|PMID:26467025|PMID:28492532|PMID:30236257
8711305	Ryr1	ryanodine receptor 1	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1586637	D	RGD:9068941	20230525	RGD		mRNA,protein:increased expression:cartilage	PMID:32619649|REF_RGD_ID:329845531
8711305	Ryr1	ryanodine receptor 1	gene	DOID:255	hemangioma		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:23558838|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:2841	asthma		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532|PMID:35697689
8711305	Ryr1	ryanodine receptor 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:25741868|PMID:26994242|PMID:28003660|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:3081	cystic lymphangioma		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cystic hygroma	PMID:25741868|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:3087	gingivitis		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:18253926|PMID:19015156|PMID:19825159|PMID:22473935|PMID:23127960|PMID:23460944|PMID:23558838|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25741868|PMID:25960145|PMID:26332594|PMID:26467025|PMID:27153395|PMID:28492532|PMID:30236257|PMID:30325262|PMID:30611313|PMID:30788618|PMID:31127727|PMID:31559918|PMID:32054689|PMID:33258288|PMID:34463354|PMID:36833224|PMID:37945484|PMID:40192509
8711305	Ryr1	ryanodine receptor 1	gene	DOID:3275	thymoma		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8711305	Ryr1	ryanodine receptor 1	gene	DOID:3312	bipolar disorder		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:25741868|PMID:28492532|PMID:35697689
8711305	Ryr1	ryanodine receptor 1	gene	DOID:3488	cellulitis		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cellulitis	PMID:25741868|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:3529	congenital myopathy 1A		ISO	RGD:1316413	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12112081|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:12566385|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958053|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18312400|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21156754|PMID:21157159|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:21989361|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409
8711305	Ryr1	ryanodine receptor 1	gene	DOID:3529	congenital myopathy 1A		ISO	RGD:1316413	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome	PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31321302|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32573669|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34535181|PMID:34539730|PMID:34809703|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9030597|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:3529	congenital myopathy 1A		ISO	RGD:1316413	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11135728|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:12566385|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958053|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18312400|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:21989361|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25370123|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26972305|PMID:26994242|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27708273|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327
8711305	Ryr1	ryanodine receptor 1	gene	DOID:3529	congenital myopathy 1A		ISO	RGD:1316413	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome	PMID:29629541|PMID:29635721|PMID:29669168|PMID:29701772|PMID:29792937|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32304219|PMID:32371413|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32861507|PMID:33037202|PMID:33146414|PMID:33258288|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34535181|PMID:34539730|PMID:34595679|PMID:34625927|PMID:34645488|PMID:34809703|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35549722|PMID:35587316|PMID:35599849|PMID:35627144|PMID:35693006|PMID:35697689|PMID:36208971|PMID:3626847|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37937776|PMID:38582058|PMID:39033378|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9030597|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:3529	congenital myopathy 1A		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1A, AUTOSOMAL DOMINANT, WITH SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA | ClinVar Annotator: match by term: Central Core Disease | ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:11063719|PMID:11113224|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12467748|PMID:12486242|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12668474|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16372898|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17376685|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18253926|PMID:18312400|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19825159|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:21989361|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25466363|PMID:25476234|PMID:25525159|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25642631|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27858745|PMID:28063098|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28686619|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30872186|PMID:30932294|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31191425|PMID:31206373|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31564432|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32140910|PMID:32236737|PMID:32371413|PMID:32381727|PMID:32403337|PMID:32528171|PMID:32665702
8711305	Ryr1	ryanodine receptor 1	gene	DOID:3529	congenital myopathy 1A		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1A, AUTOSOMAL DOMINANT, WITH SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA | ClinVar Annotator: match by term: Central Core Disease | ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy	PMID:32861507|PMID:32919876|PMID:32969603|PMID:33146414|PMID:33176865|PMID:33258288|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34262519|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34539730|PMID:34645488|PMID:35081925|PMID:35361824|PMID:35428369|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35628876|PMID:35693006|PMID:35697689|PMID:35718563|PMID:35849058|PMID:35948506|PMID:36283893|PMID:36628841|PMID:36833224|PMID:37510298|PMID:37510394|PMID:37541188|PMID:37643885|PMID:37670077|PMID:37712079|PMID:37937776|PMID:37945484|PMID:38002952|PMID:38162159|PMID:38544359|PMID:38758368|PMID:38982518|PMID:39891418|PMID:39911440|PMID:39966651|PMID:40192509|PMID:41153347|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7849712|PMID:7881417|PMID:8010475|PMID:8220422|PMID:8220423|PMID:8592342|PMID:8602662|PMID:8661021|PMID:9030597|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:3529	congenital myopathy 1A	susceptibility	ISO	RGD:1316413	D	RGD:7240710	20260729	OMIM			
8711305	Ryr1	ryanodine receptor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8711305	Ryr1	ryanodine receptor 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1316413	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy	PMID:10097181|PMID:11274444|PMID:11575529|PMID:11709545|PMID:11741831|PMID:12123492|PMID:12642598|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15448513|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16380615|PMID:16621918|PMID:16732084|PMID:16917943|PMID:16940|PMID:16940308|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:18171678|PMID:18253|PMID:18253926|PMID:18414213|PMID:18564801|PMID:18765655|PMID:19191333|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19825159|PMID:20142353|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:21062345|PMID:21157159|PMID:21674524|PMID:21825032|PMID:21911697|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22992668|PMID:23329375|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24950660|PMID:25084811|PMID:25214167|PMID:25256590|PMID:25326635|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29293505|PMID:29298851|PMID:29382405|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30611313|PMID:30652412|PMID:30788618|PMID:31055738|PMID:31127727|PMID:31407473|PMID:31559918|PMID:31680123|PMID:31903994|PMID:32528171|PMID:33333461|PMID:34008892|PMID:4149045|PMID:7299413|PMID:8661021|PMID:9199552
8711305	Ryr1	ryanodine receptor 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1316413	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy	PMID:10097181|PMID:11274444|PMID:11709545|PMID:11741831|PMID:12123492|PMID:12642598|PMID:15175001|PMID:15210166|PMID:15221887|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16380615|PMID:16621918|PMID:16732084|PMID:16917943|PMID:16940|PMID:16940308|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:18171678|PMID:18253|PMID:18253926|PMID:18414213|PMID:18564801|PMID:18765655|PMID:19191333|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19825159|PMID:20142353|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:21062345|PMID:21157159|PMID:21674524|PMID:21825032|PMID:21911697|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22992668|PMID:23329375|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24950660|PMID:25084811|PMID:25214167|PMID:25256590|PMID:25326635|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29382405|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30611313|PMID:30652412|PMID:30788618|PMID:31055738|PMID:31127727|PMID:31407473|PMID:31559918|PMID:31680123|PMID:31903994|PMID:32528171|PMID:32978841|PMID:33333461|PMID:34008892|PMID:34463354|PMID:4149045|PMID:7299413|PMID:8661021|PMID:9199552
8711305	Ryr1	ryanodine receptor 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1316413	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1316413	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35599849|PMID:36208971|PMID:36628841|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1316413	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:36208971|PMID:36283893|PMID:36628841|PMID:37273706|PMID:37510298|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638
8711305	Ryr1	ryanodine receptor 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1316413	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy	PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1316413	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26833332|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35697689|PMID:36208971
8711305	Ryr1	ryanodine receptor 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1316413	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy	PMID:36283893|PMID:36474027|PMID:36628841|PMID:37273706|PMID:37510298|PMID:37937776|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1316413	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25944380|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35697689|PMID:36208971
8711305	Ryr1	ryanodine receptor 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1316413	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy	PMID:36283893|PMID:36474027|PMID:36628841|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37937776|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1316413	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY 1 | ClinVar Annotator: match by term: Myotubular myopathy	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:26972305|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:29802573|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34535181|PMID:34625927|PMID:34645488|PMID:34809703|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369
8711305	Ryr1	ryanodine receptor 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1316413	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY 1 | ClinVar Annotator: match by term: Myotubular myopathy	PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35693006|PMID:35697689|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698|PMID:36939041|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37937776|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1316413	D	RGD:8554872	20250218	ClinVar		ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:26972305|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27363342|PMID:27382027|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28527222|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:29802573|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34535181|PMID:34625927|PMID:34645488|PMID:34707284|PMID:34809703|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144
8711305	Ryr1	ryanodine receptor 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1316413	D	RGD:8554872	20250218	ClinVar		ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy	PMID:35693006|PMID:35697689|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698|PMID:36939041|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37937776|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1316413	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy	PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35693006|PMID:35697689|PMID:35718563|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698|PMID:36833224|PMID:36939041|PMID:37273706|PMID:37432431|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37838930|PMID:37937776|PMID:39825153|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12486242|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16372898|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16958617|PMID:17033962|PMID:17081152|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18193641|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19648156|PMID:19825159|PMID:20080402|PMID:20301325|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26188342|PMID:26332594|PMID:26467025|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27452334|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27854218|PMID:27855725|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28403410|PMID:28492532|PMID:28686619|PMID:28687594|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30872186|PMID:30932294|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31564432|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32008650|PMID:32054689|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32969603|PMID:32978841|PMID:33176865|PMID:33190635|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34627702|PMID:34645488|PMID:35081925|PMID:35428369|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35697689|PMID:35718563|PMID:35948506|PMID:36516687|PMID:36628841|PMID:36833224|PMID:36939041|PMID:37510298|PMID:37541188|PMID:37643885|PMID:37670077|PMID:37712079|PMID:37937776|PMID:38127101|PMID:38982518|PMID:39891418|PMID:39966651|PMID:41153347|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:8220423|PMID:8592342|PMID:8602662|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:423	myopathy		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopathy | ClinVar Annotator: match by term: Skeletal myopathy | ClinVar Annotator: match by term: myopathy	PMID:10051009|PMID:10484775|PMID:10700782|PMID:10793526|PMID:11524458|PMID:11575529|PMID:11668625|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12411786|PMID:12467748|PMID:12565913|PMID:1256913|PMID:14670767|PMID:15108991|PMID:15210166|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16732084|PMID:16732128|PMID:16835904|PMID:16917943|PMID:17081125|PMID:17081152|PMID:17667681|PMID:17710899|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18945287|PMID:19513315|PMID:19648156|PMID:19658156|PMID:20301565|PMID:20681998|PMID:20839240|PMID:21118704|PMID:21455645|PMID:21674524|PMID:21965348|PMID:22473935|PMID:22992668|PMID:23183335|PMID:23394784|PMID:23460944|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24950660|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26467025|PMID:26994242|PMID:27159402|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27586648|PMID:27646467|PMID:27831900|PMID:27855725|PMID:28063098|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29172004|PMID:29576327|PMID:29635721|PMID:29701772|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30611313|PMID:30788618|PMID:30842289|PMID:30932294|PMID:31206373|PMID:31321302|PMID:31395954|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31564432|PMID:31589614|PMID:32236737|PMID:32381727|PMID:32403337|PMID:32528171|PMID:32919876|PMID:33176865|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34008892|PMID:34625927|PMID:35428369|PMID:35948506|PMID:36307859|PMID:36628841|PMID:36833224|PMID:37643885|PMID:37937776|PMID:7849712|PMID:7881417|PMID:8220422|PMID:8661021|PMID:9030597|PMID:9334205|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8711305	Ryr1	ryanodine receptor 1	gene	DOID:440	neuromuscular disease		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neuromuscular disorder	PMID:12486242|PMID:16917943|PMID:17033962|PMID:17483490|PMID:17576681|PMID:18253926|PMID:18414213|PMID:19191329|PMID:19645060|PMID:20080402|PMID:20301325|PMID:20839240|PMID:21062345|PMID:21455645|PMID:21911697|PMID:22473935|PMID:23069638|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23628358|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24627108|PMID:24951453|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:25960145|PMID:26019235|PMID:26068069|PMID:26188342|PMID:26332594|PMID:26467025|PMID:26578207|PMID:26633545|PMID:27382027|PMID:27447704|PMID:27452334|PMID:27854218|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29298851|PMID:29635721|PMID:30236257|PMID:30406384|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30661751|PMID:30842289|PMID:30872186|PMID:30932294|PMID:31407473|PMID:31680123|PMID:31680349|PMID:32008650|PMID:32403337|PMID:32978841|PMID:33190635|PMID:33333461|PMID:33564012|PMID:34106991|PMID:34428338|PMID:34463354|PMID:34627702|PMID:35449021|PMID:35548885|PMID:35627144|PMID:35849058|PMID:36516687|PMID:36833224|PMID:36939041|PMID:37510298|PMID:38127101|PMID:39891418|PMID:39966651|PMID:41153347|PMID:9536098
8711305	Ryr1	ryanodine receptor 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1316413	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138691
8711305	Ryr1	ryanodine receptor 1	gene	DOID:540	strabismus		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:15731587|PMID:16835904|PMID:19191333|PMID:21455645|PMID:25741868|PMID:28492532|PMID:30236257|PMID:31517061|PMID:36833224
8711305	Ryr1	ryanodine receptor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8711305	Ryr1	ryanodine receptor 1	gene	DOID:5723	optic atrophy		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:10051009|PMID:10352931|PMID:10484775|PMID:10756965|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:12059893|PMID:12124989|PMID:12151923|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14985404|PMID:1510267|PMID:15448513|PMID:16163667|PMID:16732090|PMID:16835904|PMID:16917943|PMID:17081152|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18502356|PMID:18564801|PMID:19191333|PMID:19648156|PMID:20681998|PMID:21455645|PMID:21795085|PMID:22992668|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24195946|PMID:24433488|PMID:25268394|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25960145|PMID:25989378|PMID:26115329|PMID:26951757|PMID:27382027|PMID:27646467|PMID:27855725|PMID:28492532|PMID:29382405|PMID:29635721|PMID:30236257|PMID:30406384|PMID:30611313|PMID:31016048|PMID:31206373|PMID:31447099|PMID:32528171|PMID:32665702|PMID:33458582|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:8602662|PMID:9334205|PMID:9389851|PMID:9497245|PMID:9520251|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711305	Ryr1	ryanodine receptor 1	gene	DOID:5844	myocardial infarction		ISO	RGD:1586637	D	RGD:9068941	20230525	RGD		protein:hyperphosphorylation:extensor digitorum longus:	PMID:12824280|REF_RGD_ID:329813076
8711305	Ryr1	ryanodine receptor 1	gene	DOID:6000	congestive heart failure		ISO	RGD:1316413	D	RGD:9068941	20230525	RGD			PMID:29593014|REF_RGD_ID:329813079
8711305	Ryr1	ryanodine receptor 1	gene	DOID:6000	congestive heart failure		ISO	RGD:1316414	D	RGD:9068941	20230525	RGD			PMID:29593014|REF_RGD_ID:329813079
8711305	Ryr1	ryanodine receptor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8711305	Ryr1	ryanodine receptor 1	gene	DOID:630	genetic disease		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10051009|PMID:10352931|PMID:10484775|PMID:10700782|PMID:10756965|PMID:10793526|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:12059893|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14985404|PMID:1510267|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16244001|PMID:16272262|PMID:16372898|PMID:1639409|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:17081125|PMID:17081152|PMID:17226826|PMID:17483490|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564801|PMID:18945287|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19648156|PMID:19807743|PMID:19825159|PMID:19919814|PMID:20681998|PMID:20839240|PMID:21062345|PMID:21118704|PMID:21455645|PMID:21514828|PMID:21795085|PMID:21965348|PMID:22473935|PMID:22550088|PMID:22696611|PMID:22992668|PMID:23183335|PMID:23329375|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23558838|PMID:23628358|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24195946|PMID:24433488|PMID:25214167|PMID:25268394|PMID:25331388|PMID:25525159|PMID:25558065|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26115329|PMID:26467025|PMID:26951757|PMID:26994242|PMID:27382027|PMID:27431030|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27855725|PMID:28063098|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29382405|PMID:29635721|PMID:29669168|PMID:30155738|PMID:30232666|PMID:30236257|PMID:30236258|PMID:30406384|PMID:30611313|PMID:30788618|PMID:31016048|PMID:31130284|PMID:31206373|PMID:31301762|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:32054689|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33333461|PMID:33458582|PMID:33646171|PMID:34008892|PMID:34904211|PMID:35081925|PMID:35627144|PMID:35628876|PMID:35693006|PMID:36833224|PMID:37510298|PMID:37541188|PMID:37787745|PMID:38968056|PMID:41153347|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9030597|PMID:9334205|PMID:9389851|PMID:9497245|PMID:9520251|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:630	genetic disease		ISO	RGD:1316413	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10051009|PMID:10352931|PMID:10484775|PMID:10700782|PMID:10756965|PMID:10793526|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:12059893|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14985404|PMID:1510267|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16244001|PMID:16372898|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:17081125|PMID:17081152|PMID:17226826|PMID:17483490|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564801|PMID:18945287|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19648156|PMID:19807743|PMID:19825159|PMID:19919814|PMID:20681998|PMID:20839240|PMID:21062345|PMID:21118704|PMID:21455645|PMID:21795085|PMID:21965348|PMID:22473935|PMID:22550088|PMID:22696611|PMID:22992668|PMID:23183335|PMID:23329375|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23558838|PMID:23628358|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24195946|PMID:24433488|PMID:25214167|PMID:25268394|PMID:25331388|PMID:25525159|PMID:25558065|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26115329|PMID:26467025|PMID:26951757|PMID:26994242|PMID:27382027|PMID:27431030|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27855725|PMID:28063098|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29382405|PMID:29635721|PMID:29669168|PMID:30155738|PMID:30232666|PMID:30236257|PMID:30236258|PMID:30406384|PMID:30611313|PMID:30788618|PMID:31016048|PMID:31130284|PMID:31206373|PMID:31301762|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:32054689|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33333461|PMID:33458582|PMID:33646171|PMID:34008892|PMID:34904211|PMID:35081925|PMID:35627144|PMID:35628876|PMID:35693006|PMID:36833224|PMID:37510298|PMID:37541188|PMID:37787745|PMID:38968056|PMID:41153347|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7849712|PMID:7881417|PMID:8602662|PMID:8661021|PMID:9030597|PMID:9334205|PMID:9389851|PMID:9497245|PMID:9520251|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:630	genetic disease		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10051009|PMID:10352931|PMID:10484775|PMID:10700782|PMID:10756965|PMID:10793526|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:12059893|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14985404|PMID:1510267|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:17081125|PMID:17081152|PMID:17483490|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18193641|PMID:18253926|PMID:18502356|PMID:18564801|PMID:18945287|PMID:19191329|PMID:19191333|PMID:19645060|PMID:19648156|PMID:19825159|PMID:20566647|PMID:20681998|PMID:20839240|PMID:21062345|PMID:21118704|PMID:21455645|PMID:21795085|PMID:21911697|PMID:21965348|PMID:22473935|PMID:22992668|PMID:23069638|PMID:23329375|PMID:23394784|PMID:23460944|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24091937|PMID:24195946|PMID:24433488|PMID:24706162|PMID:25268394|PMID:25525159|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25882082|PMID:25960145|PMID:25989378|PMID:26115329|PMID:26332594|PMID:26467025|PMID:26951757|PMID:26994242|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27586648|PMID:27646467|PMID:27831900|PMID:27855725|PMID:28063098|PMID:28224104|PMID:28326467|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29382405|PMID:29635721|PMID:30155320|PMID:30232666|PMID:30236257|PMID:30236258|PMID:30406384|PMID:30611313|PMID:30788618|PMID:31016048|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33333461|PMID:33458582|PMID:33564012|PMID:34106991|PMID:35081925|PMID:35428369|PMID:35627144|PMID:35628876|PMID:35693006|PMID:35849058|PMID:36833224|PMID:37541188|PMID:37937776|PMID:38982518|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7849712|PMID:7881417|PMID:8602662|PMID:8661021|PMID:9030597|PMID:9334205|PMID:9389851|PMID:9497245|PMID:9520251|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1586637	D	RGD:9068941	20230525	RGD		protein:altered localization: :	PMID:24692174|REF_RGD_ID:329813077
8711305	Ryr1	ryanodine receptor 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:25741868|PMID:28492532|PMID:35697689
8711305	Ryr1	ryanodine receptor 1	gene	DOID:767	muscular atrophy		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25658027|PMID:25741868|PMID:28492532|PMID:30236257
8711305	Ryr1	ryanodine receptor 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:25960145|PMID:28492532|PMID:30788618
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21088110|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:214555645|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25356970|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1	PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33490280|PMID:33625594|PMID:34008892|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1	PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:34008892|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1	PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:33767344|PMID:34008892|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29635721|PMID:29792937|PMID:30115273
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31206373|PMID:31301762|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1	PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32165824|PMID:32236737|PMID:32337335|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1	PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35599849|PMID:36208971|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1	PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32165824|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35599849|PMID:36208971|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35599849|PMID:36208971|PMID:36628841|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34428338|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35599849|PMID:35627144|PMID:36208971|PMID:36628841|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:2047609|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32861507|PMID:32919876|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34535181|PMID:34625927|PMID:34645488|PMID:34809703|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35599849|PMID:35627144|PMID:36208971|PMID:36283893|PMID:36628841|PMID:37273706|PMID:37510298|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:2047609|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25741909|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32861507|PMID:32919876|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34535181|PMID:34625927|PMID:34645488|PMID:34809703|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35599849|PMID:35627144|PMID:36208971|PMID:36283893|PMID:36628841|PMID:37273706|PMID:37510298|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11135728|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11873057|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15347586|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19797833|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|PMID:20439600|PMID:20461000|PMID:2047609|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21804810|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22407809|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22696611|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23422674|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24053352|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26275793|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26841830|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27363342|PMID:27382027
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:27431030|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27708273|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28290972|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29028638|PMID:29096039|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29261186|PMID:29298851|PMID:29344738|PMID:29355282|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29667327|PMID:29669168|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30724636|PMID:30755392|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:30916033|PMID:31016048|PMID:31055738|PMID:31068157|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32304219|PMID:32337335|PMID:32371413|PMID:32403337|PMID:32461654|PMID:32528171|PMID:32600061|PMID:32665702|PMID:32861507|PMID:32899693|PMID:32919876|PMID:32978841|PMID:33037202|PMID:33060286|PMID:33146414|PMID:33176865|PMID:33190635|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34535181|PMID:34625927|PMID:34645488|PMID:34809703|PMID:34904211|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35666680|PMID:35693006|PMID:35846108|PMID:35849058|PMID:36208971|PMID:36283893|PMID:36628841|PMID:37273706|PMID:37510298|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:27431030|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27708273|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28290972|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29028638|PMID:29096039|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29261186|PMID:29298851|PMID:29344738|PMID:29355282|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29667327|PMID:29669168|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30724636|PMID:30755392|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:30916033|PMID:31016048|PMID:31055738|PMID:31068157|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32304219|PMID:32337335|PMID:32371413|PMID:32403337|PMID:32461654|PMID:32528171|PMID:32600061|PMID:32665702|PMID:32861507|PMID:32899693|PMID:32919876|PMID:32978841|PMID:33037202|PMID:33060286|PMID:33146414|PMID:33176865|PMID:33190635|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34535181|PMID:34625927|PMID:34645488|PMID:34809703|PMID:34904211|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35666680|PMID:35693006|PMID:35846108|PMID:35849058|PMID:36208971|PMID:36283893|PMID:36628841|PMID:37273706|PMID:37510298|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11135728|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11873057|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15347586|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564|PMID:18564801|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19442771|PMID:19454545|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19797833|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|PMID:20439600|PMID:20461000|PMID:2047609|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21804810|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22407809|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22696611|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23422674|PMID:23456818|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24053352|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26275793|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26833332|PMID:26841830|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27363342
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:27382027|PMID:27431030|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27708273|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28290972|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29028638|PMID:29096039|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29261186|PMID:29298851|PMID:29344738|PMID:29355282|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29667327|PMID:29669168|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30724636|PMID:30755392|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:30916033|PMID:31016048|PMID:31055738|PMID:31068157|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32304219|PMID:32337335|PMID:32371413|PMID:32403337|PMID:32461654|PMID:32528171|PMID:32600061|PMID:32665702|PMID:32861507|PMID:32899693|PMID:32919876|PMID:32978841|PMID:33037202|PMID:33060286|PMID:33146414|PMID:33176865|PMID:33190635|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34535181|PMID:34595679|PMID:34625927|PMID:34645488|PMID:34809703|PMID:34904211|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35666680|PMID:35693006|PMID:35697689|PMID:35846108|PMID:35849058|PMID:36208971|PMID:3626847|PMID:36283893|PMID:36474027|PMID:36628841|PMID:37273706|PMID:37510298|PMID:37937776|PMID:39033378|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9543323|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11135728|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11873057|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15347586|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:1836259|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564|PMID:18564801|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19797833|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|PMID:20439600|PMID:20461000|PMID:2047609|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21804810|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22407809|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22696611|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23422674|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24053352|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25210889|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25326637|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26275793|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26841830|PMID:26951757|PMID:26972305|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:27234031|PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27708273|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28290972|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29028638|PMID:29096039|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29261186|PMID:29298851|PMID:29344738|PMID:29355282|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29667327|PMID:29669168|PMID:29701772|PMID:29792937|PMID:29802573|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30724636|PMID:30755392|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:30916033|PMID:31016048|PMID:31055738|PMID:31068157|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32304219|PMID:32337335|PMID:32371413|PMID:32403337|PMID:32461654|PMID:32528171|PMID:32573669|PMID:32600061|PMID:32665702|PMID:32861507|PMID:32899693|PMID:32919876|PMID:32978841|PMID:33037202|PMID:33060286|PMID:33146414|PMID:33176865|PMID:33190635|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34595679|PMID:34625927|PMID:34645488|PMID:34809703|PMID:34849273|PMID:34904211|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35587316|PMID:35599849|PMID:35627144|PMID:35666680|PMID:35693006|PMID:35697689|PMID:35718563|PMID:35846108|PMID:35849058|PMID:36100962|PMID:36131268|PMID:36208971|PMID:3626847|PMID:36280855|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698|PMID:36939041|PMID:36983702|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37787745|PMID:37937776|PMID:37996280|PMID:38582058|PMID:39033378|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9543323|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11135728|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11873057|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12719381|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15347586|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:1836259|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564|PMID:18564801|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19797833|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|PMID:20439600|PMID:20461000|PMID:2047609|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21804810|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22407809|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22696611|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23422674|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24053352|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25210889|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25326637|PMID:25370123|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26275793|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26841830|PMID:26951757|PMID:26972305|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:27153395|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27708273|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28290972|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29028638|PMID:29096039|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29261186|PMID:29298851|PMID:29344738|PMID:29355282|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29667327|PMID:29669168|PMID:29701772|PMID:29792937|PMID:29802573|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30724636|PMID:30755392|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:30916033|PMID:31016048|PMID:31055738|PMID:31068157|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32304219|PMID:32337335|PMID:32371413|PMID:32403337|PMID:32461654|PMID:32528171|PMID:32573669|PMID:32600061|PMID:32665702|PMID:32861507|PMID:32899693|PMID:32919876|PMID:32978841|PMID:33037202|PMID:33060286|PMID:33146414|PMID:33176865|PMID:33190635|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34595679|PMID:34625927|PMID:34645488|PMID:34707284|PMID:34809703|PMID:34849273|PMID:34904211|PMID:34970863|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35304488|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35587316|PMID:35599849|PMID:35627144|PMID:35666680|PMID:35693006|PMID:35697689|PMID:35718563|PMID:35846108|PMID:35849058|PMID:36100962|PMID:36131268|PMID:36208971|PMID:3626847|PMID:36280855|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698|PMID:36939041|PMID:36983702|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37787745|PMID:37937776|PMID:37996280|PMID:38582058|PMID:39033378|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9543323|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11135728|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11873057|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12719381|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15347586|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:1836259|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564|PMID:18564801|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19797833|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|PMID:20439600|PMID:20461000|PMID:2047609|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21804810|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22407809|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22696611|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23422674|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24053352|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25210889|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25326637|PMID:25370123|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25944380|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26275793|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26841830|PMID:26951757|PMID:26972305|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27708273|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28290972|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29028638|PMID:29096039|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29261186|PMID:29298851|PMID:29344738|PMID:29355282|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29667327|PMID:29669168|PMID:29701772|PMID:29792937|PMID:29802573|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30724636|PMID:30755392|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:30916033|PMID:31016048|PMID:31055738|PMID:31068157|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32304219|PMID:32337335|PMID:32371413|PMID:32381727|PMID:32403337|PMID:32461654|PMID:32528171|PMID:32573669|PMID:32600061|PMID:32665702|PMID:32861507|PMID:32899693|PMID:32919876|PMID:32978841|PMID:33037202|PMID:33060286|PMID:33124102|PMID:33146414|PMID:33176865|PMID:33190635|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34595679|PMID:34625927|PMID:34645488|PMID:34707284|PMID:34809703|PMID:34849273|PMID:34904211|PMID:34970863|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35304488|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35587316|PMID:35599849|PMID:35627144|PMID:35666680|PMID:35693006|PMID:35697689|PMID:35718563|PMID:35846108|PMID:35849058|PMID:36100962|PMID:36131268|PMID:36208971|PMID:3626847|PMID:36280855|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36697461|PMID:36757698|PMID:36833224|PMID:36939041|PMID:36983702|PMID:37273706|PMID:37432431|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37787745|PMID:37838930|PMID:37937776|PMID:37996280|PMID:38582058|PMID:39033378|PMID:39825153|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9543323|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11135728|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11873057|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12668474|PMID:12700608|PMID:12709367|PMID:12719381|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15347586|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:1836259|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564801|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19797833|PMID:19807743|PMID:19825159|PMID:19890226|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|PMID:20439600|PMID:20461000|PMID:2047609|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21804810|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22407809|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22696611|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23422674|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24053352|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25210889|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25326637|PMID:25370123|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26275793|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26841830|PMID:26951757|PMID:26972305|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27708273|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28290972|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29028638|PMID:29096039|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29261186|PMID:29298851|PMID:29344738|PMID:29355282|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29667327|PMID:29669168|PMID:29701772|PMID:29792937|PMID:29802573|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30724636|PMID:30755392|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:30916033|PMID:31016048|PMID:31055738|PMID:31068157|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32153140|PMID:32236737|PMID:32304219|PMID:32337335|PMID:32371413|PMID:32381727|PMID:32403337|PMID:32461654|PMID:32528171|PMID:32573669|PMID:32600061|PMID:32665702|PMID:32861507|PMID:32899693|PMID:32919876|PMID:32978841|PMID:33037202|PMID:33060286|PMID:33124102|PMID:33146414|PMID:33176865|PMID:33190635|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34595679|PMID:34625927|PMID:34645488|PMID:34707284|PMID:34809703|PMID:34849273|PMID:34904211|PMID:34970863|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35304488|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35587316|PMID:35599849|PMID:35627144|PMID:35666680|PMID:35693006|PMID:35697689|PMID:35718563|PMID:35846108|PMID:35849058|PMID:36100962|PMID:36131268|PMID:36208971|PMID:3626847|PMID:36280855|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36697461|PMID:36757698|PMID:36833224|PMID:36939041|PMID:36983702|PMID:37273706|PMID:37364426|PMID:37432431|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37787745|PMID:37838930|PMID:37937776|PMID:37996280|PMID:38582058|PMID:39033378|PMID:39825153|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9543323|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27708273|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:27900193|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28290972|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29028638|PMID:29096039|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29261186|PMID:29298851|PMID:29344738|PMID:29355282|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29667327|PMID:29669168|PMID:29701772|PMID:29792937|PMID:29802573|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30724636|PMID:30755392|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:30916033|PMID:31016048|PMID:31055738|PMID:31068157|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32153140|PMID:32236737|PMID:32304219|PMID:32337335|PMID:32371413|PMID:32381727|PMID:32403337|PMID:32461654|PMID:32528171|PMID:32573669|PMID:32600061|PMID:32665702|PMID:32861507|PMID:32899693|PMID:32919876|PMID:32978841|PMID:33037202|PMID:33060286|PMID:33124102|PMID:33146414|PMID:33176865|PMID:33190635|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34595679|PMID:34625927|PMID:34645488|PMID:34707284|PMID:34809703|PMID:34849273|PMID:34904211|PMID:34970863|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35304488|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35587316|PMID:35599849|PMID:35627144|PMID:35666680|PMID:35693006|PMID:35697689|PMID:35718563|PMID:35846108|PMID:35849058|PMID:36100962|PMID:36131268|PMID:36208971|PMID:3626847|PMID:36280855|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36697461|PMID:36757698|PMID:36833224|PMID:36939041|PMID:36983702|PMID:37273706|PMID:37364426|PMID:37432431|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37787745|PMID:37838930|PMID:37937776|PMID:37996280|PMID:38582058|PMID:39033378|PMID:39825153|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9543323|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11135728|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11873057|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12668474|PMID:12700608|PMID:12709367|PMID:12719381|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15347586|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:1836259|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564801|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19797833|PMID:19807743|PMID:19825159|PMID:19890226|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21804810|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22407809|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22696611|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23422674|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24053352|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25210889|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25326637|PMID:25370123|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26275793|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26841830|PMID:26951757|PMID:26972305|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27363342
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:27382027|PMID:27431030|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27708273|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:27900193|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28290972|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29028638|PMID:29096039|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29261186|PMID:29298851|PMID:29344738|PMID:29355282|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29667327|PMID:29669168|PMID:29701772|PMID:29792937|PMID:29802573|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30724636|PMID:30755392|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:30916033|PMID:31016048|PMID:31055738|PMID:31068157|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32153140|PMID:32236737|PMID:32304219|PMID:32337335|PMID:32371413|PMID:32381727|PMID:32403337|PMID:32461654|PMID:32528171|PMID:32573669|PMID:32600061|PMID:32665702|PMID:32861507|PMID:32899693|PMID:32919876|PMID:32978841|PMID:33037202|PMID:33060286|PMID:33124102|PMID:33146414|PMID:33176865|PMID:33190635|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34595679|PMID:34625927|PMID:34645488|PMID:34707284|PMID:34809703|PMID:34849273|PMID:34904211|PMID:34970863|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35304488|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35587316|PMID:35599849|PMID:35627144|PMID:35666680|PMID:35693006|PMID:35697689|PMID:35718563|PMID:35846108|PMID:35849058|PMID:36100962|PMID:36131268|PMID:36208971|PMID:3626847|PMID:36280855|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36697461|PMID:36757698|PMID:36833224|PMID:36939041|PMID:36983702|PMID:37273706|PMID:37364426|PMID:37432431|PMID:37510298|PMID:37510394|PMID:37541188|PMID:37643885|PMID:37712079|PMID:37787745|PMID:37838930|PMID:37873543|PMID:37937776|PMID:37996280|PMID:38127101|PMID:38162159|PMID:38582058|PMID:39033378|PMID:39825153|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9543323|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11135728|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12668474|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15347586|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:1836259|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564801|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19797833|PMID:19807743|PMID:19825159|PMID:19890226|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21804810|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22407809|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22696611|PMID:22734812|PMID:22851008|PMID:22992668|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23422674|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24053352|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25210889|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25326637|PMID:25370123|PMID:25428687|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26275793|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26841830|PMID:26951757|PMID:26972305|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:27646467|PMID:27663056|PMID:27708273|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:27900193|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28290972|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29028638|PMID:29096039|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29261186|PMID:29298851|PMID:29344738|PMID:29355282|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29667327|PMID:29669168|PMID:29701772|PMID:29792937|PMID:29802573|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30724636|PMID:30755392|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:30916033|PMID:31016048|PMID:31055738|PMID:31068157|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32153140|PMID:32236737|PMID:32304219|PMID:32337335|PMID:32371413|PMID:32381727|PMID:32403337|PMID:32461654|PMID:32528171|PMID:32573669|PMID:32600061|PMID:32665702|PMID:32861507|PMID:32899693|PMID:32919876|PMID:32978841|PMID:33037202|PMID:33060286|PMID:33124102|PMID:33146414|PMID:33176865|PMID:33190635|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34595679|PMID:34625927|PMID:34645488|PMID:34707284|PMID:34809703|PMID:34849273|PMID:34904211|PMID:34970863|PMID:35081925|PMID:35285867|PMID:35304488|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35587316|PMID:35599849|PMID:35627144|PMID:35666680|PMID:35693006|PMID:35697689|PMID:35718563|PMID:35846108|PMID:35849058|PMID:36100962|PMID:36131268|PMID:36208971|PMID:3626847|PMID:36280855|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36697461|PMID:36757698|PMID:36833224|PMID:36939041|PMID:36983702|PMID:37273706|PMID:37364426|PMID:37432431|PMID:37510298|PMID:37510394|PMID:37541188|PMID:37643885|PMID:37712079|PMID:37787745|PMID:37838930|PMID:37873543|PMID:37937776|PMID:37996280|PMID:38127101|PMID:38162159|PMID:38582058|PMID:39033378|PMID:39825153|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9543323|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Malignant Hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11873057|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12112081|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12467748|PMID:12486242|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12668474|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15347586|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16284304|PMID:16372898|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17204054|PMID:17204937|PMID:17226826|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:18312400|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564801|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19825159|PMID:19890226|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21282829|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21804810|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:21989361|PMID:22203976|PMID:22407809|PMID:22415532|PMID:22473935|PMID:22696611|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23422674|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326637|PMID:25428687|PMID:25466363|PMID:25476234|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25642631|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26119398|PMID:26188342|PMID:26275793|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26841830|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27452334|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:28063098|PMID:28078069|PMID:28087426|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28584051|PMID:28686619|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29261186|PMID:29298851|PMID:29344738|PMID:29355282|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Malignant Hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:29608462|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30661751|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:30916033|PMID:30932294|PMID:31016048|PMID:31055738|PMID:31068157|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31564432|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31841587|PMID:31903994|PMID:31994743|PMID:32008650|PMID:32054689|PMID:32153140|PMID:32236737|PMID:32337335|PMID:32371413|PMID:32381727|PMID:32403337|PMID:32528171|PMID:32573669|PMID:32600061|PMID:32665702|PMID:32919876|PMID:32969603|PMID:32978841|PMID:33060286|PMID:33146414|PMID:33176865|PMID:33190635|PMID:33258288|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34625927|PMID:34627702|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35175440|PMID:35178478|PMID:35304488|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35449021|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35628876|PMID:35693006|PMID:35697689|PMID:35718563|PMID:35849058|PMID:35948506|PMID:36100962|PMID:36208971|PMID:36280855|PMID:36283893|PMID:36307859|PMID:36516687|PMID:36628841|PMID:36751502|PMID:36833224|PMID:36939041|PMID:36964972|PMID:37154182|PMID:37510298|PMID:37510394|PMID:37541188|PMID:37643885|PMID:37670077|PMID:37712079|PMID:37781817|PMID:37787745|PMID:37937776|PMID:37945484|PMID:38002952|PMID:38127101|PMID:38162159|PMID:38542460|PMID:38544359|PMID:38758368|PMID:38982518|PMID:39891418|PMID:39911440|PMID:39966651|PMID:40192509|PMID:41153347|PMID:6917943|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:8010475|PMID:8220422|PMID:8220423|PMID:8592342|PMID:8602662|PMID:8661021|PMID:9030597|PMID:9066328|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia	susceptibility	ISO	RGD:1316413	D	RGD:7240710	20260729	OMIM			
8711305	Ryr1	ryanodine receptor 1	gene	DOID:8545	malignant hyperthermia	treatment	ISO	RGD:1316414	D	RGD:9068941	20230520	RGD			PMID:34257294|PMID:34980804|REF_RGD_ID:329812000|REF_RGD_ID:329812001
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1586637	D	RGD:9068941	20230622	RGD		protein:hyperoxidation,hypernitrosylation:gastrocnemius muscle	PMID:27998200|REF_RGD_ID:329853757
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:18253926|PMID:19015156|PMID:19825159|PMID:22473935|PMID:23127960|PMID:23460944|PMID:23558838|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25741868|PMID:25960145|PMID:26332594|PMID:26467025|PMID:27153395|PMID:28492532|PMID:30236257|PMID:30325262|PMID:30611313|PMID:30788618|PMID:31127727|PMID:31559918|PMID:32054689|PMID:33258288|PMID:34463354|PMID:36833224|PMID:37945484|PMID:40192509
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9000197	Edema		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema	PMID:20839240|PMID:25741868|PMID:28492532|PMID:32403337|PMID:33333461|PMID:33458582
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:28492532|PMID:30236257
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9000641	Pain		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	PMID:16835904|PMID:24013571
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9000781	Cyanosis		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cyanosis	PMID:18414213|PMID:18564801|PMID:20681998|PMID:21674524|PMID:22473935|PMID:23394784|PMID:23558838|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24950660|PMID:25214167|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25958340|PMID:25960145|PMID:26019235|PMID:26332594|PMID:26467025|PMID:28259615|PMID:28269792|PMID:28492532|PMID:29701772|PMID:30155738|PMID:30611313|PMID:30932294|PMID:31206373|PMID:31517061|PMID:31564432|PMID:32236737|PMID:32403337|PMID:32528171|PMID:33176865|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34008892|PMID:35428369|PMID:35948506|PMID:36628841|PMID:36833224|PMID:37643885|PMID:37937776
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532|PMID:35697689
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rhabdomyolysis	PMID:15221887|PMID:19191333|PMID:19825159|PMID:20681998|PMID:22473935|PMID:23329375|PMID:23558838|PMID:23826317|PMID:24033266|PMID:24055113|PMID:24195946|PMID:25637381|PMID:25741868|PMID:25960145|PMID:26332594|PMID:28224104|PMID:28492532|PMID:28779239|PMID:30236257|PMID:30611313|PMID:30788618|PMID:31903994|PMID:35428369|PMID:36833224|PMID:37937776|PMID:38982518
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9001722	Dysarthria		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:18253926|PMID:19015156|PMID:19825159|PMID:22473935|PMID:23127960|PMID:23460944|PMID:23558838|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25741868|PMID:25960145|PMID:26332594|PMID:26467025|PMID:27153395|PMID:28492532|PMID:30236257|PMID:30325262|PMID:30611313|PMID:30788618|PMID:31127727|PMID:31559918|PMID:32054689|PMID:33258288|PMID:34463354|PMID:36833224|PMID:37945484|PMID:40192509
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9001981	Weight Loss		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:25741868|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25658027|PMID:25741868|PMID:28492532|PMID:30236257
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9002119	Malignant Hypothermia		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant hypothermia	PMID:14732627|PMID:16163667|PMID:18253926|PMID:18414213|PMID:19191329|PMID:20839240|PMID:20981092|PMID:22913516|PMID:22995991|PMID:23204524|PMID:24195946|PMID:25735680|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30611313|PMID:30724636|PMID:33333461
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:25960145|PMID:28492532|PMID:30788618
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:18253926|PMID:19015156|PMID:19825159|PMID:22473935|PMID:23127960|PMID:23460944|PMID:23558838|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25741868|PMID:25960145|PMID:26332594|PMID:26467025|PMID:27153395|PMID:27234031|PMID:28492532|PMID:28818389|PMID:30236257|PMID:30325262|PMID:30611313|PMID:30788618|PMID:31127727|PMID:31559918|PMID:32054689|PMID:33258288|PMID:34463354|PMID:36833224|PMID:37945484|PMID:40192509
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9002997	Glossoptosis		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glossoptosis	PMID:23919265|PMID:25741868
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9003145	Nuchal Bleb, Familial		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal cystic hygroma	PMID:25741868|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9003242	Paresthesia		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paresthesia	PMID:20583297|PMID:20839240|PMID:23919265|PMID:25741868|PMID:28492532|PMID:28818389
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9003426	Glycosuria		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glycosuria	PMID:10051009|PMID:10352931|PMID:10484775|PMID:10756965|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:12059893|PMID:12124989|PMID:12151923|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14985404|PMID:1510267|PMID:15448513|PMID:16163667|PMID:16732090|PMID:16835904|PMID:16917943|PMID:17081152|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18502356|PMID:18564801|PMID:19191333|PMID:19648156|PMID:20681998|PMID:21455645|PMID:21795085|PMID:22992668|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24195946|PMID:24433488|PMID:25268394|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25960145|PMID:25989378|PMID:26115329|PMID:26951757|PMID:27382027|PMID:27646467|PMID:27855725|PMID:28492532|PMID:29382405|PMID:29635721|PMID:30236257|PMID:30406384|PMID:30611313|PMID:31016048|PMID:31206373|PMID:31447099|PMID:32528171|PMID:32665702|PMID:33458582|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:8602662|PMID:9334205|PMID:9389851|PMID:9497245|PMID:9520251|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532|PMID:35697689
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:18253926|PMID:19015156|PMID:19825159|PMID:22473935|PMID:23127960|PMID:23460944|PMID:23558838|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25741868|PMID:25960145|PMID:26332594|PMID:26467025|PMID:27153395|PMID:28492532|PMID:30236257|PMID:30325262|PMID:30611313|PMID:30788618|PMID:31127727|PMID:31559918|PMID:32054689|PMID:33258288|PMID:34463354|PMID:36833224|PMID:37945484|PMID:40192509
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9003760	Myalgia		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:15221887|PMID:19191333|PMID:19825159|PMID:20681998|PMID:22473935|PMID:23329375|PMID:23558838|PMID:23826317|PMID:24033266|PMID:24055113|PMID:24195946|PMID:25637381|PMID:25741868|PMID:25960145|PMID:26332594|PMID:28224104|PMID:28492532|PMID:30236257|PMID:30611313|PMID:30788618|PMID:31903994|PMID:35428369|PMID:36833224|PMID:37937776|PMID:38982518
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:10097181|PMID:11709545|PMID:11741831|PMID:12642598|PMID:15175001|PMID:17081152|PMID:18564801|PMID:20888934|PMID:21825032|PMID:22203976|PMID:22992668|PMID:23919265|PMID:24561095|PMID:25084811|PMID:25741868|PMID:25960145|PMID:25989378|PMID:28492532|PMID:28818389|PMID:30611313|PMID:37712079
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:21118704|PMID:21911697|PMID:22473935|PMID:25741868|PMID:28492532|PMID:33146414|PMID:33758288|PMID:33767344|PMID:34008892|PMID:35428369|PMID:37510394
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9004484	Sepsis		ISO	RGD:1586637	D	RGD:9068941	20230615	RGD		mRNA:increased expression:fast muscle tissue	PMID:18520643|REF_RGD_ID:329849107
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9004484	Sepsis		ISO	RGD:1586637	D	RGD:9068941	20230615	RGD		protein:decreased expression:diaphragmaticus muscle	PMID:28044347|REF_RGD_ID:329849111
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1316413	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:18813041|PMID:21878807|PMID:21918424|PMID:22473935|PMID:22851008|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30842289|PMID:33646171|PMID:33767344|PMID:35428369|PMID:35599849
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9004616	Left Ventricular Hypertrophy	susceptibility	ISO	RGD:1316413	D	RGD:9068941	20230525	RGD		DAN:SNPs:introns:rs2071090,rs10500279,rs2960321(human)	PMID:21828061|REF_RGD_ID:329812015
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9004649	Heat Stroke	treatment	ISO	RGD:1316414	D	RGD:9068941	20230520	RGD			PMID:34257294|REF_RGD_ID:329812001
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:21118704|PMID:21911697|PMID:22473935|PMID:25741868|PMID:28492532|PMID:33146414|PMID:33758288|PMID:33767344|PMID:34008892|PMID:35428369|PMID:37510394
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9004757	Axial Myopathy, Late-Onset		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Axial myopathy, late-onset	PMID:23329375|PMID:25741868|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9004866	Ataxia		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532|PMID:30236257
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:18253926|PMID:19015156|PMID:19825159|PMID:21118704|PMID:21911697|PMID:22473935|PMID:23127960|PMID:23460944|PMID:23558838|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25741868|PMID:25960145|PMID:26332594|PMID:26467025|PMID:27153395|PMID:28492532|PMID:30236257|PMID:30325262|PMID:30611313|PMID:30788618|PMID:31127727|PMID:31559918|PMID:32054689|PMID:33146414|PMID:33258288|PMID:33758288|PMID:33767344|PMID:34008892|PMID:34463354|PMID:35428369|PMID:36833224|PMID:37510394|PMID:37945484|PMID:40192509
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	PMID:25741868|PMID:28492532|PMID:30236257
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9005320	Malignant Fever		ISO	RGD:1316413	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Pharmacogenic myopathy	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29382405|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9005320	Malignant Fever		ISO	RGD:1316413	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Pharmacogenic myopathy	PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33625594|PMID:33767344|PMID:34008892|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9005320	Malignant Fever		ISO	RGD:1316413	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Pharmacogenic myopathy	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29576327|PMID:29608462|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9005320	Malignant Fever		ISO	RGD:1316413	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Pharmacogenic myopathy	PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31206373|PMID:31301762|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9005320	Malignant Fever		ISO	RGD:1316413	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Pharmacogenic myopathy	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9005320	Malignant Fever		ISO	RGD:1316413	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Pharmacogenic myopathy	PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9005320	Malignant Fever		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Fulminating hyperpyrexia | ClinVar Annotator: match by term: Pharmacogenic myopathy	PMID:10051009|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10823104|PMID:11063719|PMID:11493496|PMID:11524458|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11873057|PMID:11928716|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12208234|PMID:12411786|PMID:12411788|PMID:12467748|PMID:12486242|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12668474|PMID:12709367|PMID:12883402|PMID:1354642|PMID:14641996|PMID:14670767|PMID:14732627|PMID:15108991|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15347586|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16372898|PMID:16621918|PMID:16732084|PMID:16835904|PMID:16917943|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204054|PMID:17204937|PMID:17226826|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17710899|PMID:1774074|PMID:18063506|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18564801|PMID:18813041|PMID:19015156|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19825159|PMID:19890226|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21282829|PMID:21455645|PMID:21674524|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22407809|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25214167|PMID:25256590|PMID:25326637|PMID:25466363|PMID:25476234|PMID:25525159|PMID:25611019|PMID:25635128|PMID:25637381|PMID:25642631|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26188342|PMID:26275793|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26578207|PMID:26633545|PMID:26841830|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27452334|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27854218|PMID:27855725|PMID:27857962|PMID:28078069|PMID:28087426|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28686619|PMID:28687594|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30661751|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:30932294|PMID:31055738|PMID:31068157|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31407473|PMID:31517061|PMID:31559918|PMID:31564432|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31841587|PMID:31903994|PMID:31994743|PMID:32008650|PMID:32054689|PMID:32153140|PMID:32236737|PMID:32371413|PMID:32381727|PMID:32403337|PMID:32528171|PMID:32573669|PMID:32600061|PMID:32919876|PMID:32969603|PMID:32978841|PMID:33060286|PMID:33146414|PMID:33176865|PMID:33190635|PMID:33258288|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9005320	Malignant Fever		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Fulminating hyperpyrexia | ClinVar Annotator: match by term: Pharmacogenic myopathy	PMID:34463354|PMID:34528764|PMID:34627702|PMID:34645488|PMID:35081925|PMID:35304488|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35449021|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35628876|PMID:35693006|PMID:35697689|PMID:35718563|PMID:35849058|PMID:35948506|PMID:36208971|PMID:36283893|PMID:36516687|PMID:36628841|PMID:36751502|PMID:36833224|PMID:36939041|PMID:36964972|PMID:37154182|PMID:37510298|PMID:37510394|PMID:37541188|PMID:37643885|PMID:37670077|PMID:37781817|PMID:37937776|PMID:37945484|PMID:38002952|PMID:38127101|PMID:38162159|PMID:38544359|PMID:38758368|PMID:38982518|PMID:39891418|PMID:39911440|PMID:39966651|PMID:40192509|PMID:41153347|PMID:6917943|PMID:8220422|PMID:8602662|PMID:9066328|PMID:9334205|PMID:9389851|PMID:9497245|PMID:9536098|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle weakness | ClinVar Annotator: match by term: Progressive muscle weakness	PMID:15221887|PMID:17033962|PMID:1743490|PMID:17483490|PMID:19191333|PMID:19825159|PMID:20681998|PMID:21062345|PMID:22473935|PMID:23329375|PMID:23558838|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:25214167|PMID:25637381|PMID:25741868|PMID:25960145|PMID:26332594|PMID:26633545|PMID:28224104|PMID:28492532|PMID:29172004|PMID:29417091|PMID:30155738|PMID:30236257|PMID:30611313|PMID:30788618|PMID:31055738|PMID:31107960|PMID:31903994|PMID:32236737|PMID:32403337|PMID:32528171|PMID:35428369|PMID:36833224|PMID:37670077|PMID:37937776|PMID:38982518
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9005560	Congenital Hip Dislocation		ISO	RGD:1316413	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital hip dislocation	PMID:18813041|PMID:21878807|PMID:21918424|PMID:22473935|PMID:22851008|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30842289|PMID:33646171|PMID:33767344|PMID:35428369|PMID:35599849
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:16199547|PMID:18253926|PMID:18414213|PMID:18564801|PMID:20583297|PMID:20681998|PMID:20839240|PMID:21062345|PMID:21674524|PMID:22473935|PMID:23394784|PMID:23553484|PMID:23558838|PMID:23826317|PMID:23919265|PMID:24195946|PMID:24950660|PMID:25214167|PMID:25525159|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25958340|PMID:25960145|PMID:26019235|PMID:26332594|PMID:26467025|PMID:28259615|PMID:28492532|PMID:28818389|PMID:29382405|PMID:30236257|PMID:30611313|PMID:30788618|PMID:30932294|PMID:31206373|PMID:31517061|PMID:32236737|PMID:32403337|PMID:32528171|PMID:33333461|PMID:33458582|PMID:33726816|PMID:33767344|PMID:34008892|PMID:35428369|PMID:35627144|PMID:35948506|PMID:36628841|PMID:37937776
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:16199547|PMID:18253926|PMID:18414213|PMID:18564801|PMID:20681998|PMID:20839240|PMID:21062345|PMID:21674524|PMID:22473935|PMID:23394784|PMID:23553484|PMID:23558838|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24950660|PMID:25214167|PMID:25525159|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25958340|PMID:25960145|PMID:26019235|PMID:26332594|PMID:26467025|PMID:28259615|PMID:28269792|PMID:28492532|PMID:28818389|PMID:29382405|PMID:29701772|PMID:30155738|PMID:30236257|PMID:30611313|PMID:30788618|PMID:30932294|PMID:31206373|PMID:31517061|PMID:31564432|PMID:32236737|PMID:32403337|PMID:32528171|PMID:33176865|PMID:33333461|PMID:33458582|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34008892|PMID:35428369|PMID:35627144|PMID:35948506|PMID:36628841|PMID:36833224|PMID:37643885|PMID:37937776
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9005616	Micrognathism		ISO	RGD:1316413	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:20301325|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23919265|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:26188342|PMID:26332594|PMID:27382027|PMID:27452334|PMID:28492532|PMID:29298851|PMID:29635721|PMID:30406384|PMID:30652412|PMID:31407473|PMID:31680123|PMID:32008650|PMID:32978841|PMID:33190635|PMID:34463354|PMID:34627702|PMID:35548885|PMID:36516687|PMID:36833224|PMID:36939041|PMID:38127101
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:12668474|PMID:25741868|PMID:28492532|PMID:35693006
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertriglyceridemia	PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9006635	Hyponatremia		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyponatremia	PMID:16199547|PMID:18253926|PMID:20839240|PMID:21062345|PMID:23553484|PMID:23919265|PMID:25525159|PMID:25741868|PMID:25960145|PMID:28492532|PMID:28818389|PMID:29382405|PMID:30611313|PMID:35627144
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9006743	Spasm		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:20583297|PMID:20839240|PMID:23919265|PMID:25741868|PMID:28492532|PMID:28818389
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9006878	Exercise Intolerance		ISO	RGD:1316413	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Exercise intolerance	PMID:25741868|PMID:28492532|PMID:32403337|PMID:32528171
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9006956	nephrotoxicity	treatment	ISO	RGD:1586637	D	RGD:9068941	20230622	RGD			PMID:37244046|REF_RGD_ID:329853759
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9007052	Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay		ISO	RGD:1316413	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts	PMID:18813041|PMID:21878807|PMID:21918424|PMID:22473935|PMID:22851008|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30842289|PMID:33646171|PMID:33767344|PMID:35428369|PMID:35599849
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:15731587|PMID:16835904|PMID:19191333|PMID:21455645|PMID:25741868|PMID:28492532|PMID:30236257|PMID:31517061|PMID:36833224
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9007736	Vertigo		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:18253926|PMID:19015156|PMID:19825159|PMID:22473935|PMID:23127960|PMID:23460944|PMID:23558838|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25741868|PMID:25960145|PMID:26332594|PMID:26467025|PMID:27153395|PMID:28492532|PMID:30236257|PMID:30325262|PMID:30611313|PMID:30788618|PMID:31127727|PMID:31559918|PMID:32054689|PMID:33258288|PMID:34463354|PMID:36833224|PMID:37945484|PMID:40192509
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9008003	Mandibulofacial Dysostosis		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mandibulofacial dysostosis	PMID:15731587|PMID:16835904|PMID:19191333|PMID:21455645|PMID:25741868|PMID:28492532|PMID:30236257|PMID:31517061|PMID:36833224
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:11873057|PMID:18253926|PMID:19015156|PMID:19825159|PMID:21118704|PMID:22473935|PMID:23127960|PMID:23460944|PMID:23558838|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25741868|PMID:25958340|PMID:25960145|PMID:26332594|PMID:26467025|PMID:27153395|PMID:28492532|PMID:30236257|PMID:30325262|PMID:30611313|PMID:30788618|PMID:31127727|PMID:31559918|PMID:32054689|PMID:33258288|PMID:34463354|PMID:36833224|PMID:37945484|PMID:40192509
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11575529|PMID:12565913|PMID:1354642|PMID:15448513|PMID:15731587|PMID:16835904|PMID:18564801|PMID:19191333|PMID:19346234|PMID:19648156|PMID:19890226|PMID:19931341|PMID:20461000|PMID:21118704|PMID:21455645|PMID:21911697|PMID:22473935|PMID:23558838|PMID:23919265|PMID:25741868|PMID:27855725|PMID:27857962|PMID:28492532|PMID:30236257|PMID:31517061|PMID:33146414|PMID:33758288|PMID:33767344|PMID:34008892|PMID:35428369|PMID:36833224|PMID:37510394|PMID:6917943|PMID:9334205|PMID:9873004
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1316413	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	PMID:17033962|PMID:18414213|PMID:20080402|PMID:21911697|PMID:22473935|PMID:23553787|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24951453|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25960145|PMID:26332594|PMID:26578207|PMID:26633545|PMID:27854218|PMID:28492532|PMID:28818389|PMID:30609409|PMID:30611313|PMID:31680349|PMID:33333461
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9008830	Vasovagal Syncope		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasovagal syncope	PMID:25741868|PMID:28492532|PMID:32236737
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9008914	Lead Poisoning		ISO	RGD:1316413	D	RGD:9068941	20230525	RGD		mRNA:decreased expression:peripheral blood mononuclear cell	PMID:30661027|REF_RGD_ID:329812013
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:16199547|PMID:21118704|PMID:21911697|PMID:22473935|PMID:23919265|PMID:25741868|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30611313|PMID:33146414|PMID:33758288|PMID:33767344|PMID:34008892|PMID:35428369|PMID:37510394
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:11873057|PMID:21118704|PMID:23558838|PMID:25741868|PMID:25958340|PMID:28492532|PMID:35697689
8711305	Ryr1	ryanodine receptor 1	gene	DOID:936	brain disease		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9406	hypopituitarism		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypopituitarism	PMID:25741868|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9423	blepharitis		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharitis	PMID:25741868|PMID:28492532
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:16199547|PMID:18253926|PMID:20839240|PMID:21062345|PMID:23553484|PMID:23919265|PMID:25525159|PMID:25741868|PMID:25960145|PMID:28492532|PMID:28818389|PMID:29382405|PMID:30611313|PMID:35627144
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9834	hyperopia		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:11873057|PMID:21118704|PMID:23558838|PMID:25741868|PMID:25958340|PMID:26467025|PMID:28492532|PMID:30236257
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9884	muscular dystrophy		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:17033962|PMID:1743490|PMID:17483490|PMID:18813041|PMID:21062345|PMID:21118704|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22473935|PMID:22851008|PMID:23329375|PMID:23394784|PMID:23826317|PMID:23919265|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:25960145|PMID:26332594|PMID:26467025|PMID:26633545|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28357410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30611313|PMID:30842289|PMID:31055738|PMID:31107960|PMID:32236737|PMID:32403337|PMID:33146414|PMID:33646171|PMID:33758288|PMID:33767344|PMID:34008892|PMID:34625927|PMID:35428369|PMID:35599849|PMID:36307859|PMID:37510394|PMID:37670077
8711305	Ryr1	ryanodine receptor 1	gene	DOID:9970	obesity		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
8711416	Ppp1r10	protein phosphatase 1 regulatory subunit 10	gene	DOID:10534	stomach cancer		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8711416	Ppp1r10	protein phosphatase 1 regulatory subunit 10	gene	DOID:1059	intellectual disability		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868
8711416	Ppp1r10	protein phosphatase 1 regulatory subunit 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8711416	Ppp1r10	protein phosphatase 1 regulatory subunit 10	gene	DOID:1115	sarcoma		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8711416	Ppp1r10	protein phosphatase 1 regulatory subunit 10	gene	DOID:1909	melanoma		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8711416	Ppp1r10	protein phosphatase 1 regulatory subunit 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8711416	Ppp1r10	protein phosphatase 1 regulatory subunit 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8711416	Ppp1r10	protein phosphatase 1 regulatory subunit 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8711416	Ppp1r10	protein phosphatase 1 regulatory subunit 10	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8711416	Ppp1r10	protein phosphatase 1 regulatory subunit 10	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8711416	Ppp1r10	protein phosphatase 1 regulatory subunit 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711416	Ppp1r10	protein phosphatase 1 regulatory subunit 10	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8711416	Ppp1r10	protein phosphatase 1 regulatory subunit 10	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8711416	Ppp1r10	protein phosphatase 1 regulatory subunit 10	gene	DOID:9005532	Muscle Weakness		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
8711416	Ppp1r10	protein phosphatase 1 regulatory subunit 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8711416	Ppp1r10	protein phosphatase 1 regulatory subunit 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8711447	Rab1b	RAB1B, member RAS oncogene family	gene	DOID:10534	stomach cancer		ISO	RGD:1345480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8711447	Rab1b	RAB1B, member RAS oncogene family	gene	DOID:1324	lung cancer		ISO	RGD:1345480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8711447	Rab1b	RAB1B, member RAS oncogene family	gene	DOID:1909	melanoma		ISO	RGD:1345480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8711447	Rab1b	RAB1B, member RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:1345480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8711447	Rab1b	RAB1B, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711447	Rab1b	RAB1B, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8711447	Rab1b	RAB1B, member RAS oncogene family	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1345480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8711447	Rab1b	RAB1B, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1313737	D	RGD:9068941	20200609	RGD			PMID:11172604|REF_RGD_ID:13831357
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:1059	intellectual disability		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:1115	sarcoma		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:11782	astigmatism		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:12849	autistic disorder		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:1909	melanoma		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:2394	ovarian cancer		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:3008	invasive ductal carcinoma	disease_progression	ISO	RGD:1313737	D	RGD:9068941	20200609	RGD			PMID:25376607|REF_RGD_ID:13831358
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:3068	glioblastoma		ISO	RGD:1313737	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:brain:	PMID:12507886|REF_RGD_ID:13831355
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:3068	glioblastoma	treatment	ISO	RGD:1313737	D	RGD:9068941	20200609	RGD			PMID:16244591|REF_RGD_ID:13831352
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:3069	malignant astrocytoma	severity	ISO	RGD:1313737	D	RGD:9068941	20200609	RGD			PMID:23761815|REF_RGD_ID:13831356
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313737	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:pancreas	PMID:11875720|REF_RGD_ID:13831350
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:4362	cervical cancer		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:4450	renal cell carcinoma	severity	ISO	RGD:1313737	D	RGD:9068941	20200609	RGD			PMID:21511296|REF_RGD_ID:13831349
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:1313737	D	RGD:9068941	20200609	RGD		associated with stomach cancer;	PMID:11172604|REF_RGD_ID:13831357
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1313737	D	RGD:9068941	20200609	RGD		associated with colorectal cancer	PMID:9772287|REF_RGD_ID:13831353
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:9002805	Enterocolitis		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enterocolitis	PMID:25741868
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8711469	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:9256	colorectal cancer		ISO	RGD:1313737	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:colorectum	PMID:9772287|REF_RGD_ID:13831353
8711509	Syn2	synapsin II	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8711509	Syn2	synapsin II	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736268	D	RGD:9068941	20220825	MouseDO			
8711509	Syn2	synapsin II	gene	DOID:0080600	COVID-19		ISO	RGD:736267	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8711509	Syn2	synapsin II	gene	DOID:1115	sarcoma		ISO	RGD:736267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8711509	Syn2	synapsin II	gene	DOID:11832	visual epilepsy		ISO	RGD:736267	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:18701217
8711509	Syn2	synapsin II	gene	DOID:1324	lung cancer		ISO	RGD:736267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8711509	Syn2	synapsin II	gene	DOID:1826	epilepsy		ISO	RGD:736268	D	RGD:9068941	20220825	MouseDO			
8711509	Syn2	synapsin II	gene	DOID:5419	schizophrenia		ISO	RGD:736267	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: SYN2-related condition | ClinVar Annotator: match by term: Schizophrenia	PMID:25741868
8711509	Syn2	synapsin II	gene	DOID:5419	schizophrenia	susceptibility	ISO	RGD:736267	D	RGD:7240710	20230505	OMIM			
8711509	Syn2	synapsin II	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711509	Syn2	synapsin II	gene	DOID:9002211	Hyperalgesia		ISO	RGD:736267	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18701217
8711509	Syn2	synapsin II	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8711525	Kcnab1	potassium voltage-gated channel subfamily A regulatory beta subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8711525	Kcnab1	potassium voltage-gated channel subfamily A regulatory beta subunit 1	gene	DOID:10763	hypertension		ISO	RGD:61827	D	RGD:9068941	20200609	RGD		mRNA:increased expression:aorta, arteries (rat)	PMID:11358947|REF_RGD_ID:1627659
8711525	Kcnab1	potassium voltage-gated channel subfamily A regulatory beta subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1607081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8711525	Kcnab1	potassium voltage-gated channel subfamily A regulatory beta subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1607081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8711525	Kcnab1	potassium voltage-gated channel subfamily A regulatory beta subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1607081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8711525	Kcnab1	potassium voltage-gated channel subfamily A regulatory beta subunit 1	gene	DOID:3328	temporal lobe epilepsy	susceptibility	ISO	RGD:1607081	D	RGD:9068941	20200609	RGD		DNA:snps, haplotypes:multiple (human)	PMID:21333500|REF_RGD_ID:9743959
8711525	Kcnab1	potassium voltage-gated channel subfamily A regulatory beta subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1607081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8711525	Kcnab1	potassium voltage-gated channel subfamily A regulatory beta subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711525	Kcnab1	potassium voltage-gated channel subfamily A regulatory beta subunit 1	gene	DOID:9002669	Hypoxia		ISO	RGD:62118	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:carotid body (mouse)	PMID:15890701|REF_RGD_ID:9743958
8711525	Kcnab1	potassium voltage-gated channel subfamily A regulatory beta subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8711549	Izumo1r	IZUMO1 receptor, JUNO	gene	DOID:1115	sarcoma		ISO	RGD:2303851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8711564	Aco2	aconitase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8711564	Aco2	aconitase 2	gene	DOID:0050883	infantile cerebellar-retinal degeneration		ISO	RGD:733187	D	RGD:7240710	20180130	OMIM			
8711564	Aco2	aconitase 2	gene	DOID:0050883	infantile cerebellar-retinal degeneration		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ACO2-Related Disorders | ClinVar Annotator: match by term: INFANTILE CEREBELLAR-RETINAL DEGENERATION | ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration	PMID:16199547|PMID:17576681|PMID:25351951|PMID:25741868|PMID:28492532|PMID:30118607|PMID:30689204|PMID:32214227|PMID:32519519|PMID:34056600|PMID:34234304|PMID:34426522|PMID:38703036|PMID:9536098
8711564	Aco2	aconitase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8711564	Aco2	aconitase 2	gene	DOID:0080600	COVID-19		ISO	RGD:733187	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8711564	Aco2	aconitase 2	gene	DOID:0111442	optic atrophy 9		ISO	RGD:733187	D	RGD:7240710	20180130	OMIM			
8711564	Aco2	aconitase 2	gene	DOID:0111442	optic atrophy 9		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ACO2-related condition | ClinVar Annotator: match by term: ACO2-related disorder | ClinVar Annotator: match by term: Optic atrophy 9	PMID:16199547|PMID:25351951|PMID:25741868|PMID:28492532|PMID:30118607|PMID:30689204|PMID:32519519|PMID:34056600|PMID:34234304|PMID:34426522|PMID:37734845
8711564	Aco2	aconitase 2	gene	DOID:10534	stomach cancer		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8711564	Aco2	aconitase 2	gene	DOID:10907	microcephaly		ISO	RGD:733187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Progressive microcephaly	PMID:25741868
8711564	Aco2	aconitase 2	gene	DOID:1115	sarcoma		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8711564	Aco2	aconitase 2	gene	DOID:11162	respiratory failure		ISO	RGD:733187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868|PMID:28492532|PMID:30689204|PMID:32519519
8711564	Aco2	aconitase 2	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:733187	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
8711564	Aco2	aconitase 2	gene	DOID:12849	autistic disorder		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25351951|PMID:25741868|PMID:28492532|PMID:30118607|PMID:34056600|PMID:34234304|PMID:34426522
8711564	Aco2	aconitase 2	gene	DOID:1324	lung cancer		ISO	RGD:733187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8711564	Aco2	aconitase 2	gene	DOID:1826	epilepsy		ISO	RGD:733187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: epilepsy	PMID:25741868|PMID:28492532|PMID:30689204|PMID:32519519
8711564	Aco2	aconitase 2	gene	DOID:1891	optic nerve disease		ISO	RGD:733187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic neuropathy	PMID:25741868|PMID:28492532|PMID:30689204|PMID:32519519|PMID:34056600
8711564	Aco2	aconitase 2	gene	DOID:1969	cerebral palsy		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25351951|PMID:25741868|PMID:28492532|PMID:30118607|PMID:34056600|PMID:34234304|PMID:34426522
8711564	Aco2	aconitase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8711564	Aco2	aconitase 2	gene	DOID:3133	acute porphyria		ISO	RGD:733187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute Porphyria	PMID:25741868
8711564	Aco2	aconitase 2	gene	DOID:3275	thymoma		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8711564	Aco2	aconitase 2	gene	DOID:3890	acute intermittent porphyria		ISO	RGD:733187	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: PBGD DEFICIENCY	PMID:25741868
8711564	Aco2	aconitase 2	gene	DOID:4362	cervical cancer		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8711564	Aco2	aconitase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8711564	Aco2	aconitase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:733187	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8711564	Aco2	aconitase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8711564	Aco2	aconitase 2	gene	DOID:5723	optic atrophy		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25351951|PMID:25741868|PMID:28492532|PMID:30118607|PMID:34056600|PMID:34234304|PMID:34426522
8711564	Aco2	aconitase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8711564	Aco2	aconitase 2	gene	DOID:630	genetic disease		ISO	RGD:733187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:34056600|PMID:37460232
8711564	Aco2	aconitase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8711564	Aco2	aconitase 2	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:733187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868|PMID:28492532
8711564	Aco2	aconitase 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25351951|PMID:25741868|PMID:28492532|PMID:30118607|PMID:34056600|PMID:34234304|PMID:34426522
8711564	Aco2	aconitase 2	gene	DOID:870	neuropathy		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25351951|PMID:25741868|PMID:28492532|PMID:30118607|PMID:34056600|PMID:34234304|PMID:34426522
8711564	Aco2	aconitase 2	gene	DOID:8927	learning disability		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25351951|PMID:25741868|PMID:28492532|PMID:30118607|PMID:34056600|PMID:34234304|PMID:34426522
8711564	Aco2	aconitase 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25351951|PMID:25741868|PMID:28492532|PMID:30118607|PMID:34056600|PMID:34234304|PMID:34426522
8711564	Aco2	aconitase 2	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25351951|PMID:25741868|PMID:28492532|PMID:30118607|PMID:34056600|PMID:34234304|PMID:34426522
8711564	Aco2	aconitase 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25351951|PMID:25741868|PMID:28492532|PMID:30118607|PMID:34056600|PMID:34234304|PMID:34426522
8711564	Aco2	aconitase 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25351951|PMID:25741868|PMID:28492532|PMID:30118607|PMID:34056600|PMID:34234304|PMID:34426522
8711564	Aco2	aconitase 2	gene	DOID:9005077	Joint Instability		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25351951|PMID:25741868|PMID:28492532|PMID:30118607|PMID:34056600|PMID:34234304|PMID:34426522
8711564	Aco2	aconitase 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25351951|PMID:25741868|PMID:28492532|PMID:30118607|PMID:34056600|PMID:34234304|PMID:34426522
8711564	Aco2	aconitase 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25351951|PMID:25741868|PMID:28492532|PMID:30118607|PMID:30689204|PMID:32519519|PMID:34056600|PMID:34234304|PMID:34426522
8711564	Aco2	aconitase 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25351951|PMID:25741868|PMID:28492532|PMID:30118607|PMID:34056600|PMID:34234304|PMID:34426522
8711564	Aco2	aconitase 2	gene	DOID:9006743	Spasm		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:25351951|PMID:25741868|PMID:28492532|PMID:30118607|PMID:34056600|PMID:34234304|PMID:34426522
8711564	Aco2	aconitase 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733187	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8711564	Aco2	aconitase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8711564	Aco2	aconitase 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:733187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25351951|PMID:25741868|PMID:28492532|PMID:30118607|PMID:34056600|PMID:34234304|PMID:34426522
8711586	Mindy1	MINDY lysine 48 deubiquitinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8711586	Mindy1	MINDY lysine 48 deubiquitinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8711586	Mindy1	MINDY lysine 48 deubiquitinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8711586	Mindy1	MINDY lysine 48 deubiquitinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8711586	Mindy1	MINDY lysine 48 deubiquitinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603985	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8711586	Mindy1	MINDY lysine 48 deubiquitinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711586	Mindy1	MINDY lysine 48 deubiquitinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8711586	Mindy1	MINDY lysine 48 deubiquitinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8711586	Mindy1	MINDY lysine 48 deubiquitinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8711586	Mindy1	MINDY lysine 48 deubiquitinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8711586	Mindy1	MINDY lysine 48 deubiquitinase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1603985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8711623	Apoa5	apolipoprotein A5	gene	DOID:1171	hyperlipoproteinemia type V		ISO	RGD:736192	D	RGD:7240710	20260722	OMIM			
8711623	Apoa5	apolipoprotein A5	gene	DOID:1171	hyperlipoproteinemia type V		ISO	RGD:736192	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial type 5 hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE V | ClinVar Annotator: match by term: Hyperlipoproteinemia Type V	PMID:18324930|PMID:19447388|PMID:23151256|PMID:23307945|PMID:24591733|PMID:24793350|PMID:25487149|PMID:25741868|PMID:27108409|PMID:28492532|PMID:29954705|PMID:31980526|PMID:32041611|PMID:36325899
8711623	Apoa5	apolipoprotein A5	gene	DOID:1172	hyperlipoproteinemia type IV		ISO	RGD:736192	D	RGD:7240710	20260722	OMIM			
8711623	Apoa5	apolipoprotein A5	gene	DOID:1307	dementia		ISO	RGD:736192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dementia	
8711623	Apoa5	apolipoprotein A5	gene	DOID:1459	hypothyroidism		ISO	RGD:70903	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:15941710|REF_RGD_ID:1601661
8711623	Apoa5	apolipoprotein A5	gene	DOID:3145	hyperlipoproteinemia type III		ISO	RGD:736192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16143024
8711623	Apoa5	apolipoprotein A5	gene	DOID:3393	coronary artery disease		ISO	RGD:736192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24097064
8711623	Apoa5	apolipoprotein A5	gene	DOID:3393	coronary artery disease		ISO	RGD:736192	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-1131T>C (human)	PMID:15177130|REF_RGD_ID:2313322
8711623	Apoa5	apolipoprotein A5	gene	DOID:3393	coronary artery disease	no_association	ISO	RGD:736192	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-1131T>C, c.56C>G (human)	PMID:15306190|REF_RGD_ID:1578412
8711623	Apoa5	apolipoprotein A5	gene	DOID:3526	cerebral infarction		ISO	RGD:736192	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C (human)	PMID:19107359|REF_RGD_ID:2313314
8711623	Apoa5	apolipoprotein A5	gene	DOID:9000810	HYPERTRIGLYCERIDEMIA 1		ISO	RGD:736192	D	RGD:7240710	20260722	OMIM			
8711623	Apoa5	apolipoprotein A5	gene	DOID:9000810	HYPERTRIGLYCERIDEMIA 1		ISO	RGD:736192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: APOA5-related condition | ClinVar Annotator: match by term: Hypertriglyceridemia 1 | ClinVar Annotator: match by term: Hypertriglyceridemia, familial	PMID:12915450|PMID:17457003|PMID:17576681|PMID:18324930|PMID:18441017|PMID:18635818|PMID:19447388|PMID:20657596|PMID:23151256|PMID:23307945|PMID:24591733|PMID:24793350|PMID:25127531|PMID:25487149|PMID:25741868|PMID:27108409|PMID:27206937|PMID:28492532|PMID:29211729|PMID:29954705|PMID:31980526|PMID:32041611|PMID:36325899|PMID:38331899|PMID:9536098
8711623	Apoa5	apolipoprotein A5	gene	DOID:9004581	Pediatric Obesity		ISO	RGD:736192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25137265
8711623	Apoa5	apolipoprotein A5	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:736192	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hypertriglyceridemia	PMID:18324930|PMID:19447388|PMID:23151256|PMID:23307945|PMID:24591733|PMID:24793350|PMID:25487149|PMID:25741868|PMID:27108409|PMID:28492532|PMID:32041611
8711623	Apoa5	apolipoprotein A5	gene	DOID:9006646	Metabolic Syndrome	susceptibility	ISO	RGD:736192	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.S19W (human)	PMID:18789138|REF_RGD_ID:2313315
8711623	Apoa5	apolipoprotein A5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8711623	Apoa5	apolipoprotein A5	gene	DOID:9007571	Hyperlipoproteinemias		ISO	RGD:736192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipoproteinemia	PMID:18324930|PMID:19447388|PMID:23151256|PMID:23307945|PMID:24591733|PMID:24793350|PMID:25487149|PMID:25741868|PMID:27108409|PMID:28492532|PMID:32041611
8711623	Apoa5	apolipoprotein A5	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736192	D	RGD:9068941	20200609	RGD			PMID:16039297|REF_RGD_ID:2313321
8711623	Apoa5	apolipoprotein A5	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736192	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :-1131T>C (human)	PMID:17548321|REF_RGD_ID:2313318
8711623	Apoa5	apolipoprotein A5	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:736192	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :c.553G>T (human)	PMID:17087641|REF_RGD_ID:2313319
8711623	Apoa5	apolipoprotein A5	gene	DOID:9970	obesity		ISO	RGD:1625089	D	RGD:9068941	20230624	RGD		DNA:SNP: :rs662799 (human)	PMID:25606423|REF_RGD_ID:329901774
8711636	Tcte1	t-complex-associated-testis-expressed 1	gene	DOID:12336	male infertility		ISO	RGD:1313959	D	RGD:9068941	20220825	MouseDO			
8711636	Tcte1	t-complex-associated-testis-expressed 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8711636	Tcte1	t-complex-associated-testis-expressed 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8711636	Tcte1	t-complex-associated-testis-expressed 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8711636	Tcte1	t-complex-associated-testis-expressed 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8711659	Exoc6b	exocyst complex component 6B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8711659	Exoc6b	exocyst complex component 6B	gene	DOID:0112200	spondyloepimetaphyseal dysplasia with joint laxity type 3		ISO	RGD:1349809	D	RGD:7240710	20190515	OMIM			
8711659	Exoc6b	exocyst complex component 6B	gene	DOID:0112200	spondyloepimetaphyseal dysplasia with joint laxity type 3		ISO	RGD:1349809	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EXOC6B-related condition | ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3 | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 3	PMID:25741868|PMID:26669664|PMID:28492532
8711659	Exoc6b	exocyst complex component 6B	gene	DOID:1909	melanoma		ISO	RGD:1349809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8711659	Exoc6b	exocyst complex component 6B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8711659	Exoc6b	exocyst complex component 6B	gene	DOID:3275	thymoma		ISO	RGD:1349809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8711659	Exoc6b	exocyst complex component 6B	gene	DOID:4362	cervical cancer		ISO	RGD:1349809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8711659	Exoc6b	exocyst complex component 6B	gene	DOID:5419	schizophrenia		ISO	RGD:1349809	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8711659	Exoc6b	exocyst complex component 6B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711659	Exoc6b	exocyst complex component 6B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8711659	Exoc6b	exocyst complex component 6B	gene	DOID:9007661	Dwarfism		ISO	RGD:1349809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:23422942|PMID:25256811|PMID:25741868
8711659	Exoc6b	exocyst complex component 6B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8711659	Exoc6b	exocyst complex component 6B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8711688	Tbx6	T-box transcription factor 6	gene	DOID:0060249	scoliosis		ISO	RGD:1317068	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: scoliosis	PMID:25564734|PMID:25741868|PMID:28054739|PMID:28492532|PMID:31015262|PMID:31471994|PMID:36112137
8711688	Tbx6	T-box transcription factor 6	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1317068	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30578417
8711688	Tbx6	T-box transcription factor 6	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1317068	D	RGD:7240710	20180130	OMIM			
8711688	Tbx6	T-box transcription factor 6	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1317068	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPONDYLOCOSTAL DYSOSTOSIS 5 | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 | ClinVar Annotator: match by term: TBX6-related condition	PMID:16199547|PMID:23335591|PMID:25564734|PMID:25741868|PMID:28492532|PMID:30636772|PMID:31015262
8711688	Tbx6	T-box transcription factor 6	gene	DOID:10488	imperforate anus		ISO	RGD:1317068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:28492532
8711688	Tbx6	T-box transcription factor 6	gene	DOID:10534	stomach cancer		ISO	RGD:1317068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8711688	Tbx6	T-box transcription factor 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
8711688	Tbx6	T-box transcription factor 6	gene	DOID:11162	respiratory failure		ISO	RGD:1317068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532
8711688	Tbx6	T-box transcription factor 6	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1317068	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant	PMID:28492532
8711688	Tbx6	T-box transcription factor 6	gene	DOID:1324	lung cancer		ISO	RGD:1317068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8711688	Tbx6	T-box transcription factor 6	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1317068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:28492532
8711688	Tbx6	T-box transcription factor 6	gene	DOID:2340	craniosynostosis		ISO	RGD:1317068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FGFR2-related craniosynostosis	PMID:28492532
8711688	Tbx6	T-box transcription factor 6	gene	DOID:3275	thymoma		ISO	RGD:1317068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
8711688	Tbx6	T-box transcription factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711688	Tbx6	T-box transcription factor 6	gene	DOID:630	genetic disease		ISO	RGD:1317068	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28054739|PMID:28492532|PMID:30636772|PMID:31471994
8711688	Tbx6	T-box transcription factor 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317068	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
8711688	Tbx6	T-box transcription factor 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:28492532
8711688	Tbx6	T-box transcription factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8711710	Mypop	Myb related transcription factor, partner of profilin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711727	Klhl21	kelch like family member 21	gene	DOID:10534	stomach cancer		ISO	RGD:1351698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8711727	Klhl21	kelch like family member 21	gene	DOID:1324	lung cancer		ISO	RGD:1351698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8711727	Klhl21	kelch like family member 21	gene	DOID:4362	cervical cancer		ISO	RGD:1351698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8711727	Klhl21	kelch like family member 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711727	Klhl21	kelch like family member 21	gene	DOID:9005834	Ependymomas		ISO	RGD:1351698	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
8711742	Pltp	phospholipid transfer protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
8711742	Pltp	phospholipid transfer protein	gene	DOID:10140	dry eye syndrome		ISO	RGD:1315461	D	RGD:9068941	20220825	MouseDO			
8711742	Pltp	phospholipid transfer protein	gene	DOID:1936	atherosclerosis		ISO	RGD:1315460	D	RGD:9068941	20200609	RGD		protein:increased expression:coronary artery (human)	PMID:12835223|REF_RGD_ID:1581039
8711742	Pltp	phospholipid transfer protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8711742	Pltp	phospholipid transfer protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8711742	Pltp	phospholipid transfer protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8711742	Pltp	phospholipid transfer protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711742	Pltp	phospholipid transfer protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8711742	Pltp	phospholipid transfer protein	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:1315460	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:14695459|REF_RGD_ID:1581038
8711742	Pltp	phospholipid transfer protein	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8711742	Pltp	phospholipid transfer protein	gene	DOID:9003370	Dyslipidemias		ISO	RGD:1315460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17952847
8711742	Pltp	phospholipid transfer protein	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1315460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12754275
8711742	Pltp	phospholipid transfer protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8711742	Pltp	phospholipid transfer protein	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1315460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12754275
8711780	Grhl1	grainyhead like transcription factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8711780	Grhl1	grainyhead like transcription factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8711780	Grhl1	grainyhead like transcription factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8711780	Grhl1	grainyhead like transcription factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1313942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8711780	Grhl1	grainyhead like transcription factor 1	gene	DOID:3275	thymoma		ISO	RGD:1313942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8711780	Grhl1	grainyhead like transcription factor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8711780	Grhl1	grainyhead like transcription factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8711780	Grhl1	grainyhead like transcription factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313942	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8711780	Grhl1	grainyhead like transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711780	Grhl1	grainyhead like transcription factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8711780	Grhl1	grainyhead like transcription factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8711803	Corin	corin, serine peptidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8711803	Corin	corin, serine peptidase	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1343750	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	PMID:25741868
8711803	Corin	corin, serine peptidase	gene	DOID:10283	prostate cancer		ISO	RGD:1343750	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8711803	Corin	corin, serine peptidase	gene	DOID:10283	prostate cancer		ISO	RGD:1343750	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8711803	Corin	corin, serine peptidase	gene	DOID:10534	stomach cancer		ISO	RGD:1343750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8711803	Corin	corin, serine peptidase	gene	DOID:10591	pre-eclampsia		ISO	RGD:1343750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8711803	Corin	corin, serine peptidase	gene	DOID:10763	hypertension		ISO	RGD:1343750	D	RGD:9068941	20200609	RGD			PMID:16216958|REF_RGD_ID:1581219
8711803	Corin	corin, serine peptidase	gene	DOID:10763	hypertension		ISO	RGD:1343750	D	RGD:9068941	20200609	RGD		DNA:SNPs:associated with increased risk	PMID:17485366|REF_RGD_ID:1626338
8711803	Corin	corin, serine peptidase	gene	DOID:1324	lung cancer		ISO	RGD:1343750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8711803	Corin	corin, serine peptidase	gene	DOID:3275	thymoma		ISO	RGD:1343750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8711803	Corin	corin, serine peptidase	gene	DOID:5041	esophageal cancer		ISO	RGD:1343750	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8711803	Corin	corin, serine peptidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711803	Corin	corin, serine peptidase	gene	DOID:6000	congestive heart failure		ISO	RGD:727887	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:left atrium, right atrium (rat)	PMID:15155264|REF_RGD_ID:1581218
8711803	Corin	corin, serine peptidase	gene	DOID:6000	congestive heart failure		ISO	RGD:727887	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart (rat)	PMID:15191894|REF_RGD_ID:1581217
8711803	Corin	corin, serine peptidase	gene	DOID:630	genetic disease		ISO	RGD:1343750	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8711803	Corin	corin, serine peptidase	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1343750	D	RGD:9068941	20200609	RGD		DNA:SNPs:associated with increased risk	PMID:17485366|REF_RGD_ID:1626338
8711803	Corin	corin, serine peptidase	gene	DOID:9003936	Cardiomegaly		ISO	RGD:727887	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart (rat)	PMID:15191894|REF_RGD_ID:1581217
8711803	Corin	corin, serine peptidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8711803	Corin	corin, serine peptidase	gene	DOID:9007654	FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 30, ATRIAL		ISO	RGD:1343750	D	RGD:7240710	20240320	OMIM			
8711803	Corin	corin, serine peptidase	gene	DOID:9007654	FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 30, ATRIAL		ISO	RGD:1343750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CORIN-related condition	
8711803	Corin	corin, serine peptidase	gene	DOID:9008441	Preeclampsia/Eclampsia 5		ISO	RGD:1343750	D	RGD:7240710	20180130	OMIM			
8711803	Corin	corin, serine peptidase	gene	DOID:9008441	Preeclampsia/Eclampsia 5		ISO	RGD:1343750	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PREECLAMPSIA/ECLAMPSIA 5 | ClinVar Annotator: match by term: preeclampsia/eclampsia 5	PMID:25741868
8711803	Corin	corin, serine peptidase	gene	DOID:9256	colorectal cancer		ISO	RGD:1343750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8711829	Crebrf	CREB3 regulatory factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8711829	Crebrf	CREB3 regulatory factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8711829	Crebrf	CREB3 regulatory factor	gene	DOID:1909	melanoma		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8711829	Crebrf	CREB3 regulatory factor	gene	DOID:2394	ovarian cancer		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8711829	Crebrf	CREB3 regulatory factor	gene	DOID:4362	cervical cancer		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8711829	Crebrf	CREB3 regulatory factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8711829	Crebrf	CREB3 regulatory factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8711829	Crebrf	CREB3 regulatory factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711829	Crebrf	CREB3 regulatory factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8711829	Crebrf	CREB3 regulatory factor	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8711829	Crebrf	CREB3 regulatory factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8711829	Crebrf	CREB3 regulatory factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8711849	LOC102003870	eotaxin	gene	DOID:0060496	respiratory allergy		ISO	RGD:1351854	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085522
8711849	LOC102003870	eotaxin	gene	DOID:0060500	drug allergy		ISO	RGD:1351854	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:14616128
8711849	LOC102003870	eotaxin	gene	DOID:0080390	nephrotic syndrome type 1		ISO	RGD:1351854	D	RGD:9068941	20260521	RGD			PMID:9892814|REF_RGD_ID:7248412
8711849	LOC102003870	eotaxin	gene	DOID:10247	pleurisy		ISO	RGD:1551429	D	RGD:9068941	20260521	RGD		protein:increased expression:pleural fluid	PMID:11877329|REF_RGD_ID:4145443
8711849	LOC102003870	eotaxin	gene	DOID:10247	pleurisy		ISO	RGD:3644	D	RGD:9068941	20260521	RGD			PMID:11564646|REF_RGD_ID:4145479
8711849	LOC102003870	eotaxin	gene	DOID:10533	viral pneumonia		ISO	RGD:1351854	D	RGD:9068941	20260521	RGD			PMID:20644177|REF_RGD_ID:4140459
8711849	LOC102003870	eotaxin	gene	DOID:1063	interstitial nephritis		ISO	RGD:1351854	D	RGD:9068941	20260521	RGD			PMID:21952467|REF_RGD_ID:7247743
8711849	LOC102003870	eotaxin	gene	DOID:1115	sarcoma		ISO	RGD:1351854	D	RGD:8554872	20260526	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8711849	LOC102003870	eotaxin	gene	DOID:11204	allergic conjunctivitis		ISO	RGD:3644	D	RGD:9068941	20260521	RGD		mRNA:increased expression:conjunctiva	PMID:12682842|REF_RGD_ID:2307196
8711849	LOC102003870	eotaxin	gene	DOID:1205	allergic disease		ISO	RGD:1351854	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8711849	LOC102003870	eotaxin	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1551429	D	RGD:9068941	20260521	RGD			PMID:10955955|REF_RGD_ID:4145447
8711849	LOC102003870	eotaxin	gene	DOID:12804	mucopolysaccharidosis IV		ISO	RGD:1351854	D	RGD:9068941	20260521	RGD		protein:decreased expression:plasma	PMID:22176730|REF_RGD_ID:7247741
8711849	LOC102003870	eotaxin	gene	DOID:1312	focal segmental glomerulosclerosis	treatment	ISO	RGD:1551429	D	RGD:9068941	20260521	RGD			PMID:22427838|REF_RGD_ID:7247740
8711849	LOC102003870	eotaxin	gene	DOID:14654	prostatitis		ISO	RGD:3644	D	RGD:9068941	20260521	RGD		mRNA:increased expression:prostate gland dorsolateral lobe	PMID:10861753|REF_RGD_ID:4145481
8711849	LOC102003870	eotaxin	gene	DOID:1485	cystic fibrosis		ISO	RGD:1351854	D	RGD:9068941	20260521	RGD		protein:increased expression:paranasal sinus	PMID:17999785|REF_RGD_ID:4145455
8711849	LOC102003870	eotaxin	gene	DOID:2316	brain ischemia		ISO	RGD:1351854	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:15829914
8711849	LOC102003870	eotaxin	gene	DOID:2841	asthma		ISO	RGD:1351854	D	RGD:9068941	20260723	CTD		CTD Direct Evidence: marker/mechanism	
8711849	LOC102003870	eotaxin	gene	DOID:2841	asthma		ISO	RGD:1351854	D	RGD:9068941	20260723	RGD		protein:increased expression:plasma	PMID:16304252|REF_RGD_ID:5130930
8711849	LOC102003870	eotaxin	gene	DOID:2841	asthma		ISO	RGD:1551429	D	RGD:9068941	20260723	RGD			PMID:17060636|PMID:9034156|REF_RGD_ID:4145451|REF_RGD_ID:4891485
8711849	LOC102003870	eotaxin	gene	DOID:2841	asthma		ISO	RGD:1551429	D	RGD:9068941	20260723	RGD		mRNA:increased expression:lung	PMID:18250471|REF_RGD_ID:4145392
8711849	LOC102003870	eotaxin	gene	DOID:2841	asthma		ISO	RGD:3644	D	RGD:9068941	20260723	RGD			PMID:17074272|REF_RGD_ID:4145461
8711849	LOC102003870	eotaxin	gene	DOID:2841	asthma	severity	ISO	RGD:1351854	D	RGD:9068941	20260521	RGD			PMID:20704746|REF_RGD_ID:4145387
8711849	LOC102003870	eotaxin	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1351854	D	RGD:7240710	20260722	OMIM			
8711849	LOC102003870	eotaxin	gene	DOID:2841	asthma	treatment	ISO	RGD:3644	D	RGD:9068941	20260521	RGD			PMID:22932891|REF_RGD_ID:7248416
8711849	LOC102003870	eotaxin	gene	DOID:289	endometriosis		ISO	RGD:1351854	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:30579999
8711849	LOC102003870	eotaxin	gene	DOID:289	endometriosis		ISO	RGD:3644	D	RGD:9068941	20260521	RGD			PMID:18595729|REF_RGD_ID:2307108
8711849	LOC102003870	eotaxin	gene	DOID:2942	bronchiolitis		ISO	RGD:1351854	D	RGD:9068941	20260521	RGD		protein:increased expression:nasal mucus	PMID:17297249|REF_RGD_ID:4145460
8711849	LOC102003870	eotaxin	gene	DOID:2942	bronchiolitis	severity	ISO	RGD:1551429	D	RGD:9068941	20260521	RGD		associated with Respiratory Syncytial Virus Infections	PMID:15681407|REF_RGD_ID:4145415
8711849	LOC102003870	eotaxin	gene	DOID:3021	acute kidney failure		ISO	RGD:1551429	D	RGD:9068941	20260521	RGD		protein:increased expression:kidney	PMID:22778179|REF_RGD_ID:7247739
8711849	LOC102003870	eotaxin	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1351854	D	RGD:9068941	20260521	RGD			PMID:19925666|REF_RGD_ID:4145389
8711849	LOC102003870	eotaxin	gene	DOID:3310	atopic dermatitis		ISO	RGD:1351854	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437
8711849	LOC102003870	eotaxin	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1351854	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:16314464|PMID:17620002
8711849	LOC102003870	eotaxin	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1351854	D	RGD:9068941	20260521	RGD			PMID:17620002|REF_RGD_ID:4145458
8711849	LOC102003870	eotaxin	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1551429	D	RGD:9068941	20260521	RGD			PMID:16314464|REF_RGD_ID:4145395
8711849	LOC102003870	eotaxin	gene	DOID:4195	hyperglycemia		ISO	RGD:1351854	D	RGD:9068941	20260521	RGD		associated with Diabetes Mellitus, Type 1;protein:increased expression:urine	PMID:20841614|REF_RGD_ID:7248408
8711849	LOC102003870	eotaxin	gene	DOID:4195	hyperglycemia	treatment	ISO	RGD:1351854	D	RGD:9068941	20260521	RGD		associated with Diabetes Mellitus, Type 1	PMID:23893332|REF_RGD_ID:7248413
8711849	LOC102003870	eotaxin	gene	DOID:4481	allergic rhinitis	treatment	ISO	RGD:3644	D	RGD:9068941	20260521	RGD			PMID:23089405|REF_RGD_ID:7248414
8711849	LOC102003870	eotaxin	gene	DOID:4483	rhinitis		ISO	RGD:1351854	D	RGD:9068941	20260521	RGD		associated with Sinusitis;protein:increased expression:paranasal sinus	PMID:17999785|REF_RGD_ID:4145455
8711849	LOC102003870	eotaxin	gene	DOID:4483	rhinitis		ISO	RGD:3644	D	RGD:9068941	20260521	RGD		mRNA:increased expression:lung, nose	PMID:16765544|REF_RGD_ID:4145462
8711849	LOC102003870	eotaxin	gene	DOID:4483	rhinitis	severity	ISO	RGD:1351854	D	RGD:9068941	20260521	RGD		protein:increased expression:nasal mucus	PMID:16120080|REF_RGD_ID:4145411
8711849	LOC102003870	eotaxin	gene	DOID:5041	esophageal cancer		ISO	RGD:1351854	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8711849	LOC102003870	eotaxin	gene	DOID:5199	ureteral obstruction		ISO	RGD:1351854	D	RGD:9068941	20260521	RGD			PMID:15673311|REF_RGD_ID:7248411
8711849	LOC102003870	eotaxin	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1351854	D	RGD:9068941	20260723	CTD		CTD Direct Evidence: marker/mechanism	
8711849	LOC102003870	eotaxin	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1351854	D	RGD:9068941	20260723	RGD		protein:increased expression:plasma	PMID:27246604|REF_RGD_ID:14995461
8711849	LOC102003870	eotaxin	gene	DOID:526	human immunodeficiency virus infectious disease	susceptibility	ISO	RGD:1351854	D	RGD:7240710	20260722	OMIM			
8711849	LOC102003870	eotaxin	gene	DOID:552	pneumonia		ISO	RGD:1351854	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8711849	LOC102003870	eotaxin	gene	DOID:552	pneumonia		ISO	RGD:1551429	D	RGD:9068941	20260521	RGD			PMID:11290805|REF_RGD_ID:4145445
8711849	LOC102003870	eotaxin	gene	DOID:552	pneumonia		ISO	RGD:3644	D	RGD:9068941	20260521	RGD			PMID:10595930|REF_RGD_ID:4145450
8711849	LOC102003870	eotaxin	gene	DOID:552	pneumonia		ISO	RGD:3644	D	RGD:9068941	20260521	RGD		mRNA, protein:increased expression:lung, respiratory system fluid/secretion	PMID:11290805|REF_RGD_ID:4145445
8711849	LOC102003870	eotaxin	gene	DOID:83	cataract		ISO	RGD:3644	D	RGD:9068941	20260521	RGD		associated with Diabetes Mellitus, Type 1;protein:increased expression:serum	PMID:23049540|REF_RGD_ID:7248415
8711849	LOC102003870	eotaxin	gene	DOID:9000350	Toxocara Canis Infection (Canine Roundworms)		ISO	RGD:1551429	D	RGD:9068941	20260521	RGD		protein:increased expression:plasma, respiratory system fluid/secretion	PMID:16168564|REF_RGD_ID:7248410
8711849	LOC102003870	eotaxin	gene	DOID:9000386	Polyomavirus Infections		ISO	RGD:1351854	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
8711849	LOC102003870	eotaxin	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:1551429	D	RGD:9068941	20260521	RGD		associated with Gastrointestinal Diseases	PMID:15236177|REF_RGD_ID:4145432
8711849	LOC102003870	eotaxin	gene	DOID:9000784	Fibrosis		ISO	RGD:3644	D	RGD:9068941	20260521	RGD			PMID:20832583|REF_RGD_ID:4145471
8711849	LOC102003870	eotaxin	gene	DOID:9001371	Eosinophilia		ISO	RGD:1351854	D	RGD:9068941	20260521	RGD		associated with Sinusitis	PMID:19296494|REF_RGD_ID:4891487
8711849	LOC102003870	eotaxin	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1351854	D	RGD:9068941	20260521	RGD		mRNA:increased expression:nasal cavity epithelium	PMID:10415058|REF_RGD_ID:4145448
8711849	LOC102003870	eotaxin	gene	DOID:9001488	Human Influenza		ISO	RGD:1551429	D	RGD:9068941	20260521	RGD			PMID:20656925|REF_RGD_ID:4145452
8711849	LOC102003870	eotaxin	gene	DOID:9001488	Human Influenza		ISO	RGD:1551429	D	RGD:9068941	20260521	RGD		associated with Asthma;protein:increased expression:respiratory system fluid/secretion	PMID:12707338|REF_RGD_ID:4145439
8711849	LOC102003870	eotaxin	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1351854	D	RGD:9068941	20260521	RGD		associated with Diabetes Mellitus, Type 2	PMID:21113841|REF_RGD_ID:5683918
8711849	LOC102003870	eotaxin	gene	DOID:9002287	Respiratory Tract Granuloma		ISO	RGD:1551429	D	RGD:9068941	20260521	RGD		mRNA:increased expression:lung	PMID:12600821|REF_RGD_ID:4145441
8711849	LOC102003870	eotaxin	gene	DOID:9002287	Respiratory Tract Granuloma		ISO	RGD:3644	D	RGD:9068941	20260521	RGD			PMID:15181185|REF_RGD_ID:4145477
8711849	LOC102003870	eotaxin	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:3644	D	RGD:9068941	20260521	RGD		mRNA:increased expression:lymph node	PMID:19865101|REF_RGD_ID:4145472
8711849	LOC102003870	eotaxin	gene	DOID:9002850	Immediate Hypersensitivity		ISO	RGD:3644	D	RGD:9068941	20260521	RGD		mRNA:increased expression:nasal cavity epithelium	PMID:15823807|REF_RGD_ID:2307177
8711849	LOC102003870	eotaxin	gene	DOID:9002906	Multiple Organ Failure		ISO	RGD:1551429	D	RGD:9068941	20260521	RGD		associated with Anthrax;protein:increased expression:serum	PMID:16251415|REF_RGD_ID:7248409
8711849	LOC102003870	eotaxin	gene	DOID:9003470	Picornaviridae Infections		ISO	RGD:1551429	D	RGD:9068941	20260521	RGD		associated with Asthma	PMID:20644177|REF_RGD_ID:4140459
8711849	LOC102003870	eotaxin	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3644	D	RGD:9068941	20260521	RGD		mRNA:increased expression:aorta	PMID:9665468|REF_RGD_ID:4145482
8711849	LOC102003870	eotaxin	gene	DOID:9004484	Sepsis		ISO	RGD:3644	D	RGD:9068941	20260521	RGD			PMID:21652218|REF_RGD_ID:7248417
8711849	LOC102003870	eotaxin	gene	DOID:9005372	Inflammation		ISO	RGD:1351854	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:23707484
8711849	LOC102003870	eotaxin	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:1551429	D	RGD:9068941	20260521	RGD			PMID:22160777|REF_RGD_ID:7247742
8711849	LOC102003870	eotaxin	gene	DOID:9007651	Chronic Bronchitis		ISO	RGD:1351854	D	RGD:9068941	20260521	RGD			PMID:11991282|REF_RGD_ID:4145442
8711849	LOC102003870	eotaxin	gene	DOID:9498	pulmonary eosinophilia		ISO	RGD:10310	D	RGD:9068941	20260521	RGD			PMID:12750406|REF_RGD_ID:4145437
8711849	LOC102003870	eotaxin	gene	DOID:9675	pulmonary emphysema	disease_progression	ISO	RGD:1351854	D	RGD:9068941	20260521	RGD		associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:lung	PMID:17983873|REF_RGD_ID:4145393
8711849	LOC102003870	eotaxin	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:3644	D	RGD:9068941	20260521	RGD		protein:increased expression:serum	PMID:23049540|REF_RGD_ID:7248415
8711863	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8711863	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8711863	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1314953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8711863	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8711863	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:1324	lung cancer		ISO	RGD:1314953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8711863	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:3070	high grade glioma		ISO	RGD:1314953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8711863	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1314953	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Susceptibility to chronic obstructive pulmonary disease	
8711863	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8711863	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1314953	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8711863	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711863	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8711863	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:1306373	D	RGD:9068941	20250906	RGD		mRNA:decreased expression:liver	PMID:17397868|REF_RGD_ID:626419685
8711863	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8711863	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8711879	Slc49a3	solute carrier family 49 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8711879	Slc49a3	solute carrier family 49 member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8711879	Slc49a3	solute carrier family 49 member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8711879	Slc49a3	solute carrier family 49 member 3	gene	DOID:3275	thymoma		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8711879	Slc49a3	solute carrier family 49 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711879	Slc49a3	solute carrier family 49 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8711879	Slc49a3	solute carrier family 49 member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8711879	Slc49a3	solute carrier family 49 member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8711893	Spats2l	spermatogenesis associated serine rich 2 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8711893	Spats2l	spermatogenesis associated serine rich 2 like	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1607063	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
8711893	Spats2l	spermatogenesis associated serine rich 2 like	gene	DOID:0080600	COVID-19		ISO	RGD:1607063	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8711893	Spats2l	spermatogenesis associated serine rich 2 like	gene	DOID:1115	sarcoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8711893	Spats2l	spermatogenesis associated serine rich 2 like	gene	DOID:1909	melanoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8711893	Spats2l	spermatogenesis associated serine rich 2 like	gene	DOID:3275	thymoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8711893	Spats2l	spermatogenesis associated serine rich 2 like	gene	DOID:4362	cervical cancer		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8711893	Spats2l	spermatogenesis associated serine rich 2 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1607063	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8711893	Spats2l	spermatogenesis associated serine rich 2 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711893	Spats2l	spermatogenesis associated serine rich 2 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8711893	Spats2l	spermatogenesis associated serine rich 2 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8711893	Spats2l	spermatogenesis associated serine rich 2 like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8711893	Spats2l	spermatogenesis associated serine rich 2 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8711893	Spats2l	spermatogenesis associated serine rich 2 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8711893	Spats2l	spermatogenesis associated serine rich 2 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8711928	Nap1l1	nucleosome assembly protein 1 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8711928	Nap1l1	nucleosome assembly protein 1 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8711928	Nap1l1	nucleosome assembly protein 1 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8711928	Nap1l1	nucleosome assembly protein 1 like 1	gene	DOID:11240	appendiceal neoplasm	severity	ISO	RGD:737279	D	RGD:9068941	20200609	RGD		mRNA:increased expression:appendix, mucosa (human)	PMID:16794389|REF_RGD_ID:9590083
8711928	Nap1l1	nucleosome assembly protein 1 like 1	gene	DOID:1324	lung cancer		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8711928	Nap1l1	nucleosome assembly protein 1 like 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:737279	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:25071868|REF_RGD_ID:9590074
8711928	Nap1l1	nucleosome assembly protein 1 like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8711928	Nap1l1	nucleosome assembly protein 1 like 1	gene	DOID:3070	high grade glioma		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8711928	Nap1l1	nucleosome assembly protein 1 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8711928	Nap1l1	nucleosome assembly protein 1 like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8711928	Nap1l1	nucleosome assembly protein 1 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711928	Nap1l1	nucleosome assembly protein 1 like 1	gene	DOID:687	hepatoblastoma		ISO	RGD:737279	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:12935928|REF_RGD_ID:9590075
8711928	Nap1l1	nucleosome assembly protein 1 like 1	gene	DOID:9002669	Hypoxia		ISO	RGD:71094	D	RGD:9068941	20200609	RGD		protein:decreased dimerization:hippocampus (rat)	PMID:24893663|REF_RGD_ID:9590077
8711928	Nap1l1	nucleosome assembly protein 1 like 1	gene	DOID:9004109	Intestinal Carcinoid Tumors		ISO	RGD:737279	D	RGD:9068941	20200609	RGD		mRNA:increased expression:intestinal mucosa (human)	PMID:16424981|REF_RGD_ID:9590082
8711928	Nap1l1	nucleosome assembly protein 1 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8711928	Nap1l1	nucleosome assembly protein 1 like 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:737279	D	RGD:9068941	20200609	RGD		mRNA:increased expression:colon (human)	PMID:12384809|REF_RGD_ID:9590076
8711928	Nap1l1	nucleosome assembly protein 1 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8711928	Nap1l1	nucleosome assembly protein 1 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8711974	Wwc2	WW and C2 domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8711974	Wwc2	WW and C2 domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8711974	Wwc2	WW and C2 domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8711974	Wwc2	WW and C2 domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8711974	Wwc2	WW and C2 domain containing 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1605043	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8711974	Wwc2	WW and C2 domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8711974	Wwc2	WW and C2 domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8711974	Wwc2	WW and C2 domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605043	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8711974	Wwc2	WW and C2 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8711974	Wwc2	WW and C2 domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8711974	Wwc2	WW and C2 domain containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8711974	Wwc2	WW and C2 domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8711974	Wwc2	WW and C2 domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8711974	Wwc2	WW and C2 domain containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8712001	Emp3	epithelial membrane protein 3 (MAM blood group)	gene	DOID:10534	stomach cancer		ISO	RGD:731841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8712001	Emp3	epithelial membrane protein 3 (MAM blood group)	gene	DOID:1115	sarcoma		ISO	RGD:731841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8712001	Emp3	epithelial membrane protein 3 (MAM blood group)	gene	DOID:3070	high grade glioma		ISO	RGD:731841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8712001	Emp3	epithelial membrane protein 3 (MAM blood group)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712001	Emp3	epithelial membrane protein 3 (MAM blood group)	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:731841	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15583422
8712001	Emp3	epithelial membrane protein 3 (MAM blood group)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712019	Ift57	intraflagellar transport 57	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:25741868|PMID:28492532|PMID:40273360
8712019	Ift57	intraflagellar transport 57	gene	DOID:0060961	orofaciodigital syndrome XVIII		ISO	RGD:1314279	D	RGD:7240710	20190315	OMIM			
8712019	Ift57	intraflagellar transport 57	gene	DOID:0060961	orofaciodigital syndrome XVIII		ISO	RGD:1314279	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IFT57-related condition | ClinVar Annotator: match by term: Orofaciodigital syndrome 18 | ClinVar Annotator: match by term: Orofaciodigital syndrome XVIII	PMID:25741868|PMID:28492532
8712019	Ift57	intraflagellar transport 57	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532|PMID:40273360
8712019	Ift57	intraflagellar transport 57	gene	DOID:1148	polydactyly		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868|PMID:28492532|PMID:40273360
8712019	Ift57	intraflagellar transport 57	gene	DOID:12858	Huntington's disease		ISO	RGD:1314280	D	RGD:9068941	20200609	RGD		protein:altered localization:cilia	PMID:25989602|REF_RGD_ID:13432581
8712019	Ift57	intraflagellar transport 57	gene	DOID:1324	lung cancer		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8712019	Ift57	intraflagellar transport 57	gene	DOID:1909	melanoma		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8712019	Ift57	intraflagellar transport 57	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:25741868|PMID:28492532|PMID:40273360
8712019	Ift57	intraflagellar transport 57	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8712019	Ift57	intraflagellar transport 57	gene	DOID:4362	cervical cancer		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8712019	Ift57	intraflagellar transport 57	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712019	Ift57	intraflagellar transport 57	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8712019	Ift57	intraflagellar transport 57	gene	DOID:8499	night blindness		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Night blindness	PMID:25741868|PMID:28492532|PMID:40273360
8712019	Ift57	intraflagellar transport 57	gene	DOID:9002008	BROWN SYNDROME		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brown syndrome	PMID:25741868|PMID:28492532|PMID:40273360
8712019	Ift57	intraflagellar transport 57	gene	DOID:9004538	Hearing Loss		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532|PMID:40273360
8712019	Ift57	intraflagellar transport 57	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868|PMID:28492532|PMID:40273360
8712019	Ift57	intraflagellar transport 57	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712019	Ift57	intraflagellar transport 57	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8712019	Ift57	intraflagellar transport 57	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532|PMID:40273360
8712019	Ift57	intraflagellar transport 57	gene	DOID:9970	obesity		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532|PMID:40273360
8712034	Cul5	cullin 5	gene	DOID:10534	stomach cancer		ISO	RGD:733947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8712034	Cul5	cullin 5	gene	DOID:1115	sarcoma		ISO	RGD:733947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8712034	Cul5	cullin 5	gene	DOID:1324	lung cancer		ISO	RGD:733947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8712034	Cul5	cullin 5	gene	DOID:1909	melanoma		ISO	RGD:733947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8712034	Cul5	cullin 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8712034	Cul5	cullin 5	gene	DOID:3275	thymoma		ISO	RGD:733947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8712034	Cul5	cullin 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8712034	Cul5	cullin 5	gene	DOID:5041	esophageal cancer		ISO	RGD:733947	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8712034	Cul5	cullin 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712034	Cul5	cullin 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8712034	Cul5	cullin 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8712034	Cul5	cullin 5	gene	DOID:9000998	Brain Injuries		ISO	RGD:621742	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:cerebral cortex, hippocampus	PMID:17010517|REF_RGD_ID:2301432
8712034	Cul5	cullin 5	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:621742	D	RGD:9068941	20200609	RGD		mRNA:altered expression:brain	PMID:12635525|REF_RGD_ID:2301433
8712034	Cul5	cullin 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712034	Cul5	cullin 5	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733947	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20949323
8712034	Cul5	cullin 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8712066	Stard7	StAR related lipid transfer domain containing 7	gene	DOID:0111692	familial adult myoclonic epilepsy 2		ISO	RGD:1316908	D	RGD:7240710	20191127	OMIM			
8712066	Stard7	StAR related lipid transfer domain containing 7	gene	DOID:0111692	familial adult myoclonic epilepsy 2		ISO	RGD:1316908	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2	PMID:25741868
8712066	Stard7	StAR related lipid transfer domain containing 7	gene	DOID:10534	stomach cancer		ISO	RGD:1316908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8712066	Stard7	StAR related lipid transfer domain containing 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8712066	Stard7	StAR related lipid transfer domain containing 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1316908	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8712066	Stard7	StAR related lipid transfer domain containing 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8712066	Stard7	StAR related lipid transfer domain containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712066	Stard7	StAR related lipid transfer domain containing 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8712078	Ccm2	CCM2 scaffold protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8712078	Ccm2	CCM2 scaffold protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8712078	Ccm2	CCM2 scaffold protein	gene	DOID:0060669	cerebral cavernous malformation		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral cavernous malformation	PMID:25741868
8712078	Ccm2	CCM2 scaffold protein	gene	DOID:0060670	cerebral cavernous malformation 2		ISO	RGD:1317623	D	RGD:7240710	20180130	OMIM			
8712078	Ccm2	CCM2 scaffold protein	gene	DOID:0060670	cerebral cavernous malformation 2		ISO	RGD:1317623	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CCM2-related condition | ClinVar Annotator: match by term: CEREBRAL CAVERNOUS MALFORMATIONS 2 | ClinVar Annotator: match by term: Cerebral cavernous malformation 2 | ClinVar Annotator: match by term: Cerebral cavernous malformations 2 | ClinVar Annotator: match by term: cerebral cavernous malformation 2	PMID:14624391|PMID:14740320|PMID:15122722|PMID:16199547|PMID:17160895|PMID:17277691|PMID:17576681|PMID:18060436|PMID:18300272|PMID:19088124|PMID:19475721|PMID:20419355|PMID:23595507|PMID:24466005|PMID:2468908|PMID:24689081|PMID:25525273|PMID:25741868|PMID:26467025|PMID:27792856|PMID:28492532|PMID:28655553|PMID:29758562|PMID:30161288|PMID:31824402|PMID:34357553|PMID:36629374|PMID:9536098
8712078	Ccm2	CCM2 scaffold protein	gene	DOID:10534	stomach cancer		ISO	RGD:1317623	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8712078	Ccm2	CCM2 scaffold protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8712078	Ccm2	CCM2 scaffold protein	gene	DOID:1115	sarcoma		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8712078	Ccm2	CCM2 scaffold protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:26467025|PMID:28492532
8712078	Ccm2	CCM2 scaffold protein	gene	DOID:483	cavernous hemangioma		ISO	RGD:1317623	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cavernous hemangioma	PMID:25741868
8712078	Ccm2	CCM2 scaffold protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1317623	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8712078	Ccm2	CCM2 scaffold protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712078	Ccm2	CCM2 scaffold protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:26467025|PMID:28492532
8712078	Ccm2	CCM2 scaffold protein	gene	DOID:630	genetic disease		ISO	RGD:1317623	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
8712078	Ccm2	CCM2 scaffold protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:26467025|PMID:28492532
8712078	Ccm2	CCM2 scaffold protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8712078	Ccm2	CCM2 scaffold protein	gene	DOID:865	vasculitis		ISO	RGD:1317623	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Vasculitis	PMID:25741868|PMID:28492532
8712078	Ccm2	CCM2 scaffold protein	gene	DOID:8725	vascular dementia		ISO	RGD:1317623	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:28492532|PMID:33268848|PMID:35307828
8712078	Ccm2	CCM2 scaffold protein	gene	DOID:9003443	Central Nervous System Vascular Malformations	susceptibility	ISO	RGD:1317623	D	RGD:9068941	20200609	RGD		DNA:deletions: ; Cerebral cavernous malformations, OMIM:603284	PMID:17160895|REF_RGD_ID:1600689
8712078	Ccm2	CCM2 scaffold protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712078	Ccm2	CCM2 scaffold protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:28492532
8712105	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8712105	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:10534	stomach cancer		ISO	RGD:1318072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8712105	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:1324	lung cancer		ISO	RGD:1318072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8712105	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:2394	ovarian cancer		ISO	RGD:1318072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8712105	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:4362	cervical cancer		ISO	RGD:1318072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8712105	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:5041	esophageal cancer		ISO	RGD:1318072	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8712105	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712105	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:6039	uveal melanoma		ISO	RGD:1318072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8712105	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8712105	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8712105	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712105	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8712105	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318072	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8712148	Tmem232	transmembrane protein 232	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:3029048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8712148	Tmem232	transmembrane protein 232	gene	DOID:12849	autistic disorder		ISO	RGD:3029048	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Autism	
8712148	Tmem232	transmembrane protein 232	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:3029048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8712148	Tmem232	transmembrane protein 232	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:3029048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8712148	Tmem232	transmembrane protein 232	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:3029048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8712175	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8712175	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:0060340	ciliopathy		ISO	RGD:1604747	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30395363
8712175	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8712175	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:11193	syndactyly		ISO	RGD:1604747	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30395363
8712175	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:1148	polydactyly		ISO	RGD:1332560	D	RGD:9068941	20220825	MouseDO		OMIM:174200 | OMIM:174500 | OMIM:174700 | OMIM:603596	
8712175	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1604747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8712175	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8712175	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8712175	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:9002200	Postaxial Polydactyly, Type A9		ISO	RGD:1604747	D	RGD:7240710	20190315	OMIM			
8712175	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:9002200	Postaxial Polydactyly, Type A9		ISO	RGD:1604747	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polydactyly, postaxial, type A9	PMID:25741868
8712175	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:9003488	Postaxial Polydactyly, Type A1		ISO	RGD:1604747	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly type A	PMID:25741868
8712175	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712208	NSD2	nuclear receptor binding SET domain protein 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1317450	D	RGD:9068941	20221117	RGD		mRNA:increased expression:lung (human)	PMID:34551195|REF_RGD_ID:155663369
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:0050460	Wolf-Hirschhorn syndrome		ISO	RGD:1317450	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Wolf-Hirschhorn syndrome	PMID:11252005|PMID:25741868|PMID:28492532|PMID:29760529|PMID:29892088|PMID:30345613
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:0060058	lymphoma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:0080638	B-cell acute lymphoblastic leukemia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:0112177	Mayer-Rokitansky-Kuster-Hauser syndrome		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aplasia of the uterus	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:10907	microcephaly		ISO	RGD:1317450	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:11383	cryptorchidism		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:11514	fissured tongue		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plicated tongue	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:11782	astigmatism		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:11830	myopia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:11836	clubfoot		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfeet	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:12638	hypertrophic pyloric stenosis		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypertrophic pyloric stenosis	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:13580	cholestasis		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:1588	thrombocytopenia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:2340	craniosynostosis		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:2355	anemia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:2841	asthma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:3070	high grade glioma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:3275	thymoma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1319911	D	RGD:9068941	20230218	RGD			PMID:34551195|REF_RGD_ID:155663369
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:4188	echolalia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Echolalia	
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:423	myopathy		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:4667	kyphosis		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317450	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:557	kidney disease		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:630	genetic disease		ISO	RGD:1317450	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25188243|PMID:25741868|PMID:28492532
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:8927	learning disability		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9001031	Retrognathia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: retrognathism	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9001581	Constipation		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9001716	Hip Contracture		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip contracture	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9002720	Splenomegaly		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intracranial Hemorrhages	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9003760	Myalgia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9004360	RAUCH-STEINDL SYNDROME		ISO	RGD:1317450	D	RGD:7240710	20220330	OMIM			
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9004360	RAUCH-STEINDL SYNDROME		ISO	RGD:1317450	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NSD2-related condition | ClinVar Annotator: match by term: RAUCH-STEINDL SYNDROME | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar Annotator: match by term: Wolf-Hirschhorn like syndrome | ClinVar Annotator: match by term: Wolf-Hirschhorn-like syndrome	PMID:11252005|PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:28492532|PMID:29758562|PMID:29760529|PMID:29892088|PMID:30171259|PMID:30244530|PMID:30345613|PMID:31171569|PMID:31382906|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317450	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:33941880
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9005078	Congenital Macroglossia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Giant tongue	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive muscle weakness	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9006743	Spasm		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9007573	Flatfoot		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1317450	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24076604
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9007722	Myoclonus		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9007817	Macroglossia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9007892	Tics		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tics	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1317450	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24874954
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1317450	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24076604
8712208	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9993	hypoglycemia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736600	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:2311	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:12483994|REF_RGD_ID:1600486
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:2311	D	RGD:9068941	20200609	RGD			PMID:12909127|REF_RGD_ID:1600485
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:736600	D	RGD:9068941	20200609	RGD			PMID:12909127|REF_RGD_ID:1600485
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:0080998	acute necrotizing pancreatitis	severity	ISO	RGD:2311	D	RGD:9068941	20200609	RGD		protein:decreased expression:pancreas, acinar cell	PMID:16425382|REF_RGD_ID:1600479
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:1115	sarcoma		ISO	RGD:736600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:1380	endometrial cancer		ISO	RGD:736600	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:10637067|REF_RGD_ID:2293548
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:1407	anterior uveitis		ISO	RGD:2311	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:eye	PMID:16751365|REF_RGD_ID:1600478
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:2394	ovarian cancer		ISO	RGD:736600	D	RGD:9068941	20200609	RGD			PMID:15726105|PMID:19254481|REF_RGD_ID:2306066|REF_RGD_ID:2326189
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:2527	nephrosis		ISO	RGD:2311	D	RGD:9068941	20200609	RGD			PMID:15843577|REF_RGD_ID:1600482
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:2921	glomerulonephritis		ISO	RGD:2311	D	RGD:9068941	20200609	RGD			PMID:7523753|REF_RGD_ID:1600500
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:3275	thymoma		ISO	RGD:736600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:736600	D	RGD:9068941	20200609	RGD			PMID:12898600|REF_RGD_ID:2326192
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:3498	pancreatic ductal adenocarcinoma	disease_progression	ISO	RGD:736600	D	RGD:9068941	20220303	RGD		protein:increased expression:blood (human)	PMID:32663515|REF_RGD_ID:151660329
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:736600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:557	kidney disease		ISO	RGD:736600	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:31618666
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:5844	myocardial infarction		ISO	RGD:2311	D	RGD:9068941	20200609	RGD		protein:decreased expression:myocardium	PMID:7515561|REF_RGD_ID:1600501
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:630	genetic disease		ISO	RGD:736600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:8869	neuromyelitis optica	severity	ISO	RGD:2311	D	RGD:9068941	20200609	RGD			PMID:28212662|REF_RGD_ID:13792592
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:8947	diabetic retinopathy		ISO	RGD:2311	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina	PMID:12453906|REF_RGD_ID:1600487
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:9001643	CD59 Deficiency		ISO	RGD:736600	D	RGD:7240710	20180130	OMIM			
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:9001643	CD59 Deficiency		ISO	RGD:736600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy | ClinVar Annotator: match by term: CD59-related condition	PMID:25741868|PMID:28492532
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2311	D	RGD:9068941	20200609	RGD			PMID:14519760|REF_RGD_ID:1600483
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:9004001	Facial Nerve Injuries		ISO	RGD:2311	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:facial VII nucleus	PMID:9846834|REF_RGD_ID:1600495
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2311	D	RGD:9068941	20200609	RGD			PMID:10530491|REF_RGD_ID:1600493
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:2311	D	RGD:9068941	20200609	RGD		protein:increased expression:Schwann cell (rat)	PMID:10450801|REF_RGD_ID:1600494
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:9007472	Skin Manifestations		ISO	RGD:736600	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31618666
8712239	Cd59	CD59 molecule (CD59 blood group)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8712262	LOC102023128	cytochrome c oxidase assembly protein COX16 homolog, mitochondrial	gene	DOID:0070507	mitochondrial complex IV deficiency nuclear type 22		ISO	RGD:1321882	D	RGD:7240710	20210616	OMIM			
8712275	Ehd3	EH domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8712275	Ehd3	EH domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1346639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8712275	Ehd3	EH domain containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8712275	Ehd3	EH domain containing 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8712275	Ehd3	EH domain containing 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8712275	Ehd3	EH domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712275	Ehd3	EH domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346639	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8712275	Ehd3	EH domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712275	Ehd3	EH domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8712275	Ehd3	EH domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346639	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
8712285	LOC102023845	chromosome unknown open reading frame, human C14orf180	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8712285	LOC102023845	chromosome unknown open reading frame, human C14orf180	gene	DOID:1115	sarcoma		ISO	RGD:1603812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8712285	LOC102023845	chromosome unknown open reading frame, human C14orf180	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603812	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8712285	LOC102023845	chromosome unknown open reading frame, human C14orf180	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712309	Ccdc134	coiled-coil domain containing 134	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1605621	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
8712309	Ccdc134	coiled-coil domain containing 134	gene	DOID:1324	lung cancer		ISO	RGD:1605621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8712309	Ccdc134	coiled-coil domain containing 134	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8712309	Ccdc134	coiled-coil domain containing 134	gene	DOID:4362	cervical cancer		ISO	RGD:1605621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8712309	Ccdc134	coiled-coil domain containing 134	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8712309	Ccdc134	coiled-coil domain containing 134	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712309	Ccdc134	coiled-coil domain containing 134	gene	DOID:9001928	osteogenesis imperfecta type 22		ISO	RGD:1605621	D	RGD:7240710	20220406	OMIM			
8712309	Ccdc134	coiled-coil domain containing 134	gene	DOID:9001928	osteogenesis imperfecta type 22		ISO	RGD:1605621	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CCDC134-related condition | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XXII	PMID:25741868
8712309	Ccdc134	coiled-coil domain containing 134	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712309	Ccdc134	coiled-coil domain containing 134	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1605621	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
8712309	Ccdc134	coiled-coil domain containing 134	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8712326	Psmd1	proteasome 26S subunit, non-ATPase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8712326	Psmd1	proteasome 26S subunit, non-ATPase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8712326	Psmd1	proteasome 26S subunit, non-ATPase 1	gene	DOID:1115	sarcoma		ISO	RGD:734088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8712326	Psmd1	proteasome 26S subunit, non-ATPase 1	gene	DOID:1324	lung cancer		ISO	RGD:734088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8712326	Psmd1	proteasome 26S subunit, non-ATPase 1	gene	DOID:1909	melanoma		ISO	RGD:734088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8712326	Psmd1	proteasome 26S subunit, non-ATPase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:734088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8712326	Psmd1	proteasome 26S subunit, non-ATPase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:734088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8712326	Psmd1	proteasome 26S subunit, non-ATPase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:734088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8712326	Psmd1	proteasome 26S subunit, non-ATPase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:734088	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8712326	Psmd1	proteasome 26S subunit, non-ATPase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712326	Psmd1	proteasome 26S subunit, non-ATPase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:734088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8712326	Psmd1	proteasome 26S subunit, non-ATPase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8712326	Psmd1	proteasome 26S subunit, non-ATPase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:734088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8712395	Fam135a	family with sequence similarity 135 member A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8712395	Fam135a	family with sequence similarity 135 member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8712395	Fam135a	family with sequence similarity 135 member A	gene	DOID:0080198	infantile histiocytoid cardiomyopathy		ISO	RGD:1312650	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Histiocytoid cardiomyopathy	
8712395	Fam135a	family with sequence similarity 135 member A	gene	DOID:10534	stomach cancer		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8712395	Fam135a	family with sequence similarity 135 member A	gene	DOID:1115	sarcoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8712395	Fam135a	family with sequence similarity 135 member A	gene	DOID:1324	lung cancer		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8712395	Fam135a	family with sequence similarity 135 member A	gene	DOID:1909	melanoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8712395	Fam135a	family with sequence similarity 135 member A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8712395	Fam135a	family with sequence similarity 135 member A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8712395	Fam135a	family with sequence similarity 135 member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1312650	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8712395	Fam135a	family with sequence similarity 135 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712395	Fam135a	family with sequence similarity 135 member A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8712395	Fam135a	family with sequence similarity 135 member A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8712395	Fam135a	family with sequence similarity 135 member A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8712395	Fam135a	family with sequence similarity 135 member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712395	Fam135a	family with sequence similarity 135 member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8712395	Fam135a	family with sequence similarity 135 member A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312650	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8712441	Kmt5a	lysine methyltransferase 5A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8712441	Kmt5a	lysine methyltransferase 5A	gene	DOID:10283	prostate cancer		ISO	RGD:1602807	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8712441	Kmt5a	lysine methyltransferase 5A	gene	DOID:10283	prostate cancer		ISO	RGD:1602807	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8712441	Kmt5a	lysine methyltransferase 5A	gene	DOID:1115	sarcoma		ISO	RGD:1602807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8712441	Kmt5a	lysine methyltransferase 5A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8712441	Kmt5a	lysine methyltransferase 5A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712441	Kmt5a	lysine methyltransferase 5A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712441	Kmt5a	lysine methyltransferase 5A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8712453	Prxl2a	peroxiredoxin like 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320148	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8712453	Prxl2a	peroxiredoxin like 2A	gene	DOID:1909	melanoma		ISO	RGD:1320148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8712453	Prxl2a	peroxiredoxin like 2A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8712453	Prxl2a	peroxiredoxin like 2A	gene	DOID:3070	high grade glioma		ISO	RGD:1320148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8712453	Prxl2a	peroxiredoxin like 2A	gene	DOID:3275	thymoma		ISO	RGD:1320148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8712453	Prxl2a	peroxiredoxin like 2A	gene	DOID:4362	cervical cancer		ISO	RGD:1320148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8712453	Prxl2a	peroxiredoxin like 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1320148	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8712453	Prxl2a	peroxiredoxin like 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712453	Prxl2a	peroxiredoxin like 2A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8712453	Prxl2a	peroxiredoxin like 2A	gene	DOID:9256	colorectal cancer		ISO	RGD:1320148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8712491	Rabac1	Rab acceptor 1	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:736141	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:28492532
8712491	Rabac1	Rab acceptor 1	gene	DOID:1909	melanoma		ISO	RGD:736141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8712491	Rabac1	Rab acceptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736141	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8712491	Rabac1	Rab acceptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712491	Rabac1	Rab acceptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8712514	Fzd2	frizzled class receptor 2	gene	DOID:0060254	Robinow syndrome		ISO	RGD:732091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acral dysostosis with facial and genital abnormalities | ClinVar Annotator: match by term: Robinow syndrome	PMID:29276006
8712514	Fzd2	frizzled class receptor 2	gene	DOID:0060765	autosomal dominant Robinow syndrome 2		ISO	RGD:732091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2	PMID:28492532|PMID:29276006
8712514	Fzd2	frizzled class receptor 2	gene	DOID:0060766	autosomal dominant Robinow syndrome 1		ISO	RGD:732091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1	PMID:29276006
8712514	Fzd2	frizzled class receptor 2	gene	DOID:0060767	autosomal dominant Robinow syndrome 3		ISO	RGD:732091	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3	PMID:25741868|PMID:29276006
8712514	Fzd2	frizzled class receptor 2	gene	DOID:0080600	COVID-19		ISO	RGD:732091	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8712514	Fzd2	frizzled class receptor 2	gene	DOID:0080845	omodysplasia 2		ISO	RGD:732091	D	RGD:7240710	20190315	OMIM			
8712514	Fzd2	frizzled class receptor 2	gene	DOID:0080845	omodysplasia 2		ISO	RGD:732091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant omodysplasia | ClinVar Annotator: match by term: FZD2-related condition | ClinVar Annotator: match by term: OMODYSPLASIA 2 | ClinVar Annotator: match by term: Omodysplasia 2	PMID:19900272|PMID:21525063|PMID:24458798|PMID:25741868|PMID:25759469|PMID:28492532|PMID:29276006|PMID:30455931|PMID:35047859|PMID:36789910|PMID:38967226
8712514	Fzd2	frizzled class receptor 2	gene	DOID:127	leiomyoma		ISO	RGD:732091	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:myometrium	PMID:12909487|REF_RGD_ID:2298700
8712514	Fzd2	frizzled class receptor 2	gene	DOID:3459	breast carcinoma		ISO	RGD:732091	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:15492823|REF_RGD_ID:2298699
8712514	Fzd2	frizzled class receptor 2	gene	DOID:5844	myocardial infarction		ISO	RGD:71012	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart left ventricle	PMID:9142123|REF_RGD_ID:4107058
8712514	Fzd2	frizzled class receptor 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:732091	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21188121
8712514	Fzd2	frizzled class receptor 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:71012	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart left ventricle	PMID:8762054|REF_RGD_ID:4107053
8712514	Fzd2	frizzled class receptor 2	gene	DOID:9007661	Dwarfism		ISO	RGD:732091	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
8712526	Clptm1l	CLPTM1 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8712526	Clptm1l	CLPTM1 like	gene	DOID:0050866	oral squamous cell carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNP: :rs402710(human)	PMID:28025427|REF_RGD_ID:150530487
8712526	Clptm1l	CLPTM1 like	gene	DOID:0050921	pharynx squamous cell carcinoma	sexual_dimorphism	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		in males;DNA:SNP: :rs401681(human)	PMID:31429604|REF_RGD_ID:150530637
8712526	Clptm1l	CLPTM1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8712526	Clptm1l	CLPTM1 like	gene	DOID:10283	prostate cancer		ISO	RGD:1605932	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8712526	Clptm1l	CLPTM1 like	gene	DOID:10283	prostate cancer		ISO	RGD:1605932	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8712526	Clptm1l	CLPTM1 like	gene	DOID:1037	lymphoid leukemia		ISO	RGD:1605932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24292274
8712526	Clptm1l	CLPTM1 like	gene	DOID:10534	stomach cancer		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8712526	Clptm1l	CLPTM1 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19151717
8712526	Clptm1l	CLPTM1 like	gene	DOID:1324	lung cancer		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8712526	Clptm1l	CLPTM1 like	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD			PMID:27062701|REF_RGD_ID:150537097
8712526	Clptm1l	CLPTM1 like	gene	DOID:1324	lung cancer	sexual_dimorphism	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		in males;DNA:SNP: :rs370348(human)	PMID:21771723|REF_RGD_ID:150530643
8712526	Clptm1l	CLPTM1 like	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNPs:: rs402710,rs451360 (human)	PMID:25526467|REF_RGD_ID:150530494
8712526	Clptm1l	CLPTM1 like	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNPs::multiple (human)	PMID:26852039|REF_RGD_ID:150530484
8712526	Clptm1l	CLPTM1 like	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		DNA:SNP:intron:rs31489(human)	PMID:25422207|REF_RGD_ID:150530631
8712526	Clptm1l	CLPTM1 like	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		associated with smoking; DNA:SNP:intron:rs31489(human)	PMID:21622582|REF_RGD_ID:150530642
8712526	Clptm1l	CLPTM1 like	gene	DOID:1909	melanoma		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8712526	Clptm1l	CLPTM1 like	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1605932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19151717
8712526	Clptm1l	CLPTM1 like	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		mRNA:increased expression:esophagus	PMID:25480402|REF_RGD_ID:150530497
8712526	Clptm1l	CLPTM1 like	gene	DOID:3748	esophagus squamous cell carcinoma	no_association	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		DNA:SNP: :rs401681(human)	PMID:24386361|REF_RGD_ID:150537098
8712526	Clptm1l	CLPTM1 like	gene	DOID:3748	esophagus squamous cell carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNP: :rs401681(human)	PMID:25007268|REF_RGD_ID:150530488
8712526	Clptm1l	CLPTM1 like	gene	DOID:3748	esophagus squamous cell carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNP: :rs451360(human)	PMID:26716642|REF_RGD_ID:11572962
8712526	Clptm1l	CLPTM1 like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		mRNA:increased expression:lung	PMID:24366883|REF_RGD_ID:150530483
8712526	Clptm1l	CLPTM1 like	gene	DOID:3907	lung squamous cell carcinoma	no_association	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNP::rs401681(human)	PMID:24861918|REF_RGD_ID:150530499
8712526	Clptm1l	CLPTM1 like	gene	DOID:3907	lung squamous cell carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNP:: rs31490(human)	PMID:23908149|REF_RGD_ID:150530498
8712526	Clptm1l	CLPTM1 like	gene	DOID:3907	lung squamous cell carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		DNA:SNP: :rs401681(human)	PMID:24386361|REF_RGD_ID:150537098
8712526	Clptm1l	CLPTM1 like	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1605932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22675468
8712526	Clptm1l	CLPTM1 like	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		DNA:SNPs: :rs4975616,rs401681(human)	PMID:24679952|REF_RGD_ID:150530644
8712526	Clptm1l	CLPTM1 like	gene	DOID:3908	lung non-small cell carcinoma	no_association	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNPs:: rs401681,rs4975616(human)	PMID:24175795|REF_RGD_ID:150530500
8712526	Clptm1l	CLPTM1 like	gene	DOID:3908	lung non-small cell carcinoma	no_association	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		DNA:SNP: :rs31490(human)	PMID:27982019|REF_RGD_ID:150530632
8712526	Clptm1l	CLPTM1 like	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1605932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22675468
8712526	Clptm1l	CLPTM1 like	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		mRNA:increased expression:lung	PMID:24366883|REF_RGD_ID:150530483
8712526	Clptm1l	CLPTM1 like	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD			PMID:24366883|REF_RGD_ID:150530483
8712526	Clptm1l	CLPTM1 like	gene	DOID:3910	lung adenocarcinoma	no_association	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNP::rs401681(human)	PMID:24861918|REF_RGD_ID:150530499
8712526	Clptm1l	CLPTM1 like	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNP:: rs31490(human)	PMID:23908149|REF_RGD_ID:150530498
8712526	Clptm1l	CLPTM1 like	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNP:: rs4975616(human)	PMID:19955392|REF_RGD_ID:150530502
8712526	Clptm1l	CLPTM1 like	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		DNA:SNP: :rs401681(human)	PMID:23738012|PMID:24386361|REF_RGD_ID:150530485|REF_RGD_ID:150537098
8712526	Clptm1l	CLPTM1 like	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		DNA:SNP::rs77518573(human)	PMID:31935503|REF_RGD_ID:150530635
8712526	Clptm1l	CLPTM1 like	gene	DOID:4362	cervical cancer		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8712526	Clptm1l	CLPTM1 like	gene	DOID:4948	gallbladder carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNP, haplotype: :rs401681(human)	PMID:29450669|REF_RGD_ID:150530629
8712526	Clptm1l	CLPTM1 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1605932	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8712526	Clptm1l	CLPTM1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712526	Clptm1l	CLPTM1 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8712526	Clptm1l	CLPTM1 like	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		DNA:SNP: :rs401681(human)	PMID:29042796|REF_RGD_ID:150537100
8712526	Clptm1l	CLPTM1 like	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNPs::rs401681(human)	PMID:25339005|REF_RGD_ID:150530496
8712526	Clptm1l	CLPTM1 like	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		associated with esophagus squamous cell carcinoma; mRNA:increased expression:esophagus	PMID:25480402|REF_RGD_ID:150530497
8712526	Clptm1l	CLPTM1 like	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1605932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19151717
8712526	Clptm1l	CLPTM1 like	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1605932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19151717
8712526	Clptm1l	CLPTM1 like	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1605932	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:18978787|PMID:19151717|PMID:23433592|PMID:24366883
8712526	Clptm1l	CLPTM1 like	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8712526	Clptm1l	CLPTM1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712526	Clptm1l	CLPTM1 like	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1605932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27749845
8712526	Clptm1l	CLPTM1 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8712526	Clptm1l	CLPTM1 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8712526	Clptm1l	CLPTM1 like	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		protein:increased expression:nasopharynx	PMID:26621837|REF_RGD_ID:11564613
8712526	Clptm1l	CLPTM1 like	gene	DOID:9261	nasopharynx carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNP: :rs401681(human)	PMID:26621837|REF_RGD_ID:11564613
8712526	Clptm1l	CLPTM1 like	gene	DOID:9261	nasopharynx carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		DNA:SNP:intron:rs31489(human)	PMID:26545403|REF_RGD_ID:11556976
8712526	Clptm1l	CLPTM1 like	gene	DOID:9261	nasopharynx carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		DNA:SNP:intron:rs31489(human)	PMID:31270100|REF_RGD_ID:150537099
8712526	Clptm1l	CLPTM1 like	gene	DOID:9675	pulmonary emphysema	severity	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		associated with smoking; DNA:SNP:intron:rs31489(human)	PMID:21622582|REF_RGD_ID:150530642
8712549	Med21	mediator complex subunit 21	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8712549	Med21	mediator complex subunit 21	gene	DOID:4362	cervical cancer		ISO	RGD:1320392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8712549	Med21	mediator complex subunit 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712557	Tube1	tubulin epsilon 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8712557	Tube1	tubulin epsilon 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8712557	Tube1	tubulin epsilon 1	gene	DOID:0060058	lymphoma		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8712557	Tube1	tubulin epsilon 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8712557	Tube1	tubulin epsilon 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8712557	Tube1	tubulin epsilon 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8712557	Tube1	tubulin epsilon 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8712557	Tube1	tubulin epsilon 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314442	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8712557	Tube1	tubulin epsilon 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712557	Tube1	tubulin epsilon 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8712557	Tube1	tubulin epsilon 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8712557	Tube1	tubulin epsilon 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8712557	Tube1	tubulin epsilon 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8712598	Lrrc7	leucine rich repeat containing 7	gene	DOID:1059	intellectual disability		ISO	RGD:1349743	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8712598	Lrrc7	leucine rich repeat containing 7	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1349743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:39256359
8712598	Lrrc7	leucine rich repeat containing 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8712598	Lrrc7	leucine rich repeat containing 7	gene	DOID:1909	melanoma		ISO	RGD:1349743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8712598	Lrrc7	leucine rich repeat containing 7	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1349743	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
8712598	Lrrc7	leucine rich repeat containing 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:39256359
8712598	Lrrc7	leucine rich repeat containing 7	gene	DOID:9008675	Dyskinesias		ISO	RGD:1349743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:25741868
8712598	Lrrc7	leucine rich repeat containing 7	gene	DOID:9970	obesity		ISO	RGD:1349743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:39256359
8712598	Lrrc7	leucine rich repeat containing 7	gene	DOID:9975	cocaine dependence	susceptibility	ISO	RGD:1349743	D	RGD:9068941	20231102	RGD		DNA:SNP: (rs1938584) (human)	PMID:18438686|REF_RGD_ID:401851917
8712636	Krr1	KRR1 small subunit processome component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8712636	Krr1	KRR1 small subunit processome component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8712636	Krr1	KRR1 small subunit processome component	gene	DOID:1324	lung cancer		ISO	RGD:1314657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8712636	Krr1	KRR1 small subunit processome component	gene	DOID:1909	melanoma		ISO	RGD:1314657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8712636	Krr1	KRR1 small subunit processome component	gene	DOID:5041	esophageal cancer		ISO	RGD:1314657	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8712636	Krr1	KRR1 small subunit processome component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712636	Krr1	KRR1 small subunit processome component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712636	Krr1	KRR1 small subunit processome component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL	
8712636	Krr1	KRR1 small subunit processome component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8712650	Hmox2	heme oxygenase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8712650	Hmox2	heme oxygenase 2	gene	DOID:10024	migraine with aura		ISO	RGD:68991	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:35115687
8712650	Hmox2	heme oxygenase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8712650	Hmox2	heme oxygenase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:68991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8712650	Hmox2	heme oxygenase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712650	Hmox2	heme oxygenase 2	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:68991	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16459095
8712650	Hmox2	heme oxygenase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712650	Hmox2	heme oxygenase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8712674	LOC102012144	cytochrome b5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8712674	LOC102012144	cytochrome b5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8712674	LOC102012144	cytochrome b5	gene	DOID:0112316	methemoglobinemia and ambiguous genitalia		ISO	RGD:736806	D	RGD:7240710	20180130	OMIM			
8712674	LOC102012144	cytochrome b5	gene	DOID:0112316	methemoglobinemia and ambiguous genitalia		ISO	RGD:736806	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA	PMID:22170710|PMID:25741868
8712674	LOC102012144	cytochrome b5	gene	DOID:10783	methemoglobinemia		ISO	RGD:736806	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.S127P (human)	PMID:2107882|REF_RGD_ID:1599659
8712674	LOC102012144	cytochrome b5	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:736806	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
8712674	LOC102012144	cytochrome b5	gene	DOID:11400	pyelonephritis		ISO	RGD:620558	D	RGD:9068941	20200609	RGD			PMID:9848217|REF_RGD_ID:1599663
8712674	LOC102012144	cytochrome b5	gene	DOID:289	endometriosis		ISO	RGD:736806	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
8712674	LOC102012144	cytochrome b5	gene	DOID:3275	thymoma		ISO	RGD:736806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8712674	LOC102012144	cytochrome b5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8712674	LOC102012144	cytochrome b5	gene	DOID:5041	esophageal cancer		ISO	RGD:736806	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8712674	LOC102012144	cytochrome b5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712674	LOC102012144	cytochrome b5	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:736806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8712674	LOC102012144	cytochrome b5	gene	DOID:9005309	Congenital Methemoglobinemia		ISO	RGD:736806	D	RGD:9068941	20200609	RGD		DNA:missense, nonsense mutations:splice junction,cds:multiple	PMID:18343696|REF_RGD_ID:11352695
8712674	LOC102012144	cytochrome b5	gene	DOID:9005309	Congenital Methemoglobinemia		ISO	RGD:736806	D	RGD:9068941	20200609	RGD		protein:decreased activity:erythrocyte membrane:	PMID:7451647|REF_RGD_ID:11352693
8712674	LOC102012144	cytochrome b5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712674	LOC102012144	cytochrome b5	gene	DOID:9256	colorectal cancer		ISO	RGD:736806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8712674	LOC102012144	cytochrome b5	gene	DOID:9637	stomatitis		ISO	RGD:736806	D	RGD:9068941	20200609	RGD			PMID:10406239|REF_RGD_ID:11352692
8712674	LOC102012144	cytochrome b5	gene	DOID:9970	obesity		ISO	RGD:736806	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
8712693	Exoc3l1	exocyst complex component 3 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8712693	Exoc3l1	exocyst complex component 3 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8712693	Exoc3l1	exocyst complex component 3 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8712693	Exoc3l1	exocyst complex component 3 like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8712693	Exoc3l1	exocyst complex component 3 like 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8712693	Exoc3l1	exocyst complex component 3 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8712693	Exoc3l1	exocyst complex component 3 like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605832	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8712693	Exoc3l1	exocyst complex component 3 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712693	Exoc3l1	exocyst complex component 3 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712714	Scube1	signal peptide, CUB domain and EGF like domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8712714	Scube1	signal peptide, CUB domain and EGF like domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1319121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8712714	Scube1	signal peptide, CUB domain and EGF like domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8712714	Scube1	signal peptide, CUB domain and EGF like domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8712714	Scube1	signal peptide, CUB domain and EGF like domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319121	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8712714	Scube1	signal peptide, CUB domain and EGF like domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8712714	Scube1	signal peptide, CUB domain and EGF like domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712714	Scube1	signal peptide, CUB domain and EGF like domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8712714	Scube1	signal peptide, CUB domain and EGF like domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8712742	CUNH1orf122	chromosome unknown C1orf122 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1606463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8712742	CUNH1orf122	chromosome unknown C1orf122 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8712742	CUNH1orf122	chromosome unknown C1orf122 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712749	Got1l1	glutamic-oxaloacetic transaminase 1 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602185	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8712749	Got1l1	glutamic-oxaloacetic transaminase 1 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712749	Got1l1	glutamic-oxaloacetic transaminase 1 like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8712765	Cfap53	cilia and flagella associated protein 53	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8712765	Cfap53	cilia and flagella associated protein 53	gene	DOID:0051020	visceral heterotaxy 6		ISO	RGD:1344036	D	RGD:7240710	20190315	OMIM			
8712765	Cfap53	cilia and flagella associated protein 53	gene	DOID:0051020	visceral heterotaxy 6		ISO	RGD:1344036	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CFAP53-related condition | ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 6, AUTOSOMAL | ClinVar Annotator: match by term: Heterotaxy, visceral, 6, autosomal	PMID:16199547|PMID:17576681|PMID:22577226|PMID:25504577|PMID:25741868|PMID:26531781|PMID:28492532|PMID:37041101|PMID:9536098
8712765	Cfap53	cilia and flagella associated protein 53	gene	DOID:10534	stomach cancer		ISO	RGD:1344036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8712765	Cfap53	cilia and flagella associated protein 53	gene	DOID:1115	sarcoma		ISO	RGD:1344036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8712765	Cfap53	cilia and flagella associated protein 53	gene	DOID:3275	thymoma		ISO	RGD:1344036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8712765	Cfap53	cilia and flagella associated protein 53	gene	DOID:5041	esophageal cancer		ISO	RGD:1344036	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8712765	Cfap53	cilia and flagella associated protein 53	gene	DOID:630	genetic disease		ISO	RGD:1344036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8712765	Cfap53	cilia and flagella associated protein 53	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1344036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary valve atresia	
8712765	Cfap53	cilia and flagella associated protein 53	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8712765	Cfap53	cilia and flagella associated protein 53	gene	DOID:9565	dextrocardia		ISO	RGD:1344036	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Dextrocardia | ClinVar Annotator: match by term: dextrocardia	PMID:25741868|PMID:26531781
8712765	Cfap53	cilia and flagella associated protein 53	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1344036	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	
8712782	Senp5	SUMO specific peptidase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1312139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8712782	Senp5	SUMO specific peptidase 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8712782	Senp5	SUMO specific peptidase 5	gene	DOID:1115	sarcoma		ISO	RGD:1312139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8712782	Senp5	SUMO specific peptidase 5	gene	DOID:1324	lung cancer		ISO	RGD:1312139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8712782	Senp5	SUMO specific peptidase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1312139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8712782	Senp5	SUMO specific peptidase 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8712782	Senp5	SUMO specific peptidase 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1312139	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8712782	Senp5	SUMO specific peptidase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712782	Senp5	SUMO specific peptidase 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8712782	Senp5	SUMO specific peptidase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712820	Papln	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8712820	Papln	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:10534	stomach cancer		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8712820	Papln	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8712820	Papln	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:1324	lung cancer		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8712820	Papln	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:1909	melanoma		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8712820	Papln	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8712820	Papln	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:3275	thymoma		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8712820	Papln	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8712820	Papln	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:5041	esophageal cancer		ISO	RGD:1322495	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8712820	Papln	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8712820	Papln	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712820	Papln	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712820	Papln	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8712820	Papln	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8712852	Adat1	adenosine deaminase tRNA specific 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8712852	Adat1	adenosine deaminase tRNA specific 1	gene	DOID:10283	prostate cancer		ISO	RGD:1320789	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8712852	Adat1	adenosine deaminase tRNA specific 1	gene	DOID:10283	prostate cancer		ISO	RGD:1320789	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8712852	Adat1	adenosine deaminase tRNA specific 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8712852	Adat1	adenosine deaminase tRNA specific 1	gene	DOID:1324	lung cancer		ISO	RGD:1320789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8712852	Adat1	adenosine deaminase tRNA specific 1	gene	DOID:3275	thymoma		ISO	RGD:1320789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8712852	Adat1	adenosine deaminase tRNA specific 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8712852	Adat1	adenosine deaminase tRNA specific 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712852	Adat1	adenosine deaminase tRNA specific 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8712852	Adat1	adenosine deaminase tRNA specific 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8712870	Fcrl1	Fc receptor like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8712870	Fcrl1	Fc receptor like 1	gene	DOID:1324	lung cancer		ISO	RGD:1602077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8712870	Fcrl1	Fc receptor like 1	gene	DOID:3275	thymoma		ISO	RGD:1602077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8712870	Fcrl1	Fc receptor like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8712870	Fcrl1	Fc receptor like 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8712870	Fcrl1	Fc receptor like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8712895	Pmfbp1	polyamine modulated factor 1 binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8712895	Pmfbp1	polyamine modulated factor 1 binding protein 1	gene	DOID:0111922	spermatogenic failure 31		ISO	RGD:1345041	D	RGD:7240710	20190315	OMIM			
8712895	Pmfbp1	polyamine modulated factor 1 binding protein 1	gene	DOID:0111922	spermatogenic failure 31		ISO	RGD:1345041	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PMFBP1-related condition | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 31 | ClinVar Annotator: match by term: Spermatogenic failure 31 | ClinVar Annotator: match by term: spermatogenic failure 31	PMID:25741868
8712895	Pmfbp1	polyamine modulated factor 1 binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8712895	Pmfbp1	polyamine modulated factor 1 binding protein 1	gene	DOID:14228	oligospermia		ISO	RGD:1345041	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Oligozoospermia	PMID:25741868|PMID:30032984|PMID:30298696
8712895	Pmfbp1	polyamine modulated factor 1 binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1345041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8712895	Pmfbp1	polyamine modulated factor 1 binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8712895	Pmfbp1	polyamine modulated factor 1 binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345041	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8712895	Pmfbp1	polyamine modulated factor 1 binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712895	Pmfbp1	polyamine modulated factor 1 binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712895	Pmfbp1	polyamine modulated factor 1 binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8712920	Awat2	acyl-CoA wax alcohol acyltransferase 2	gene	DOID:10140	dry eye syndrome		ISO	RGD:1558296	D	RGD:9068941	20220825	MouseDO			
8712920	Awat2	acyl-CoA wax alcohol acyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712920	Awat2	acyl-CoA wax alcohol acyltransferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8712939	Ssr3	signal sequence receptor subunit 3	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1349375	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8712939	Ssr3	signal sequence receptor subunit 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1349375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8712939	Ssr3	signal sequence receptor subunit 3	gene	DOID:4362	cervical cancer		ISO	RGD:1349375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8712939	Ssr3	signal sequence receptor subunit 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8712939	Ssr3	signal sequence receptor subunit 3	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1349375	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation	
8712939	Ssr3	signal sequence receptor subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712953	Lipn	lipase family member N	gene	DOID:0060717	autosomal recessive congenital ichthyosis 8		ISO	RGD:1349924	D	RGD:7240710	20180130	OMIM			
8712953	Lipn	lipase family member N	gene	DOID:0060717	autosomal recessive congenital ichthyosis 8		ISO	RGD:1349924	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 8 | ClinVar Annotator: match by term: LIPN-related condition	PMID:25741868|PMID:28492532
8712953	Lipn	lipase family member N	gene	DOID:1324	lung cancer		ISO	RGD:1349924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8712953	Lipn	lipase family member N	gene	DOID:3275	thymoma		ISO	RGD:1349924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8712953	Lipn	lipase family member N	gene	DOID:4362	cervical cancer		ISO	RGD:1349924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8712953	Lipn	lipase family member N	gene	DOID:5041	esophageal cancer		ISO	RGD:1349924	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8712953	Lipn	lipase family member N	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8712953	Lipn	lipase family member N	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8712968	Ube2m	ubiquitin conjugating enzyme E2 M	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8712968	Ube2m	ubiquitin conjugating enzyme E2 M	gene	DOID:3070	high grade glioma		ISO	RGD:1316910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8712968	Ube2m	ubiquitin conjugating enzyme E2 M	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8712968	Ube2m	ubiquitin conjugating enzyme E2 M	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712968	Ube2m	ubiquitin conjugating enzyme E2 M	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8712968	Ube2m	ubiquitin conjugating enzyme E2 M	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712968	Ube2m	ubiquitin conjugating enzyme E2 M	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8712981	Ndufa11	NADH:ubiquinone oxidoreductase subunit A11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8712981	Ndufa11	NADH:ubiquinone oxidoreductase subunit A11	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1353803	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF	PMID:28492532
8712981	Ndufa11	NADH:ubiquinone oxidoreductase subunit A11	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1353803	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:25741868|PMID:28492532
8712981	Ndufa11	NADH:ubiquinone oxidoreductase subunit A11	gene	DOID:0112094	nuclear type mitochondrial complex I deficiency 14		ISO	RGD:1353803	D	RGD:7240710	20190315	OMIM			
8712981	Ndufa11	NADH:ubiquinone oxidoreductase subunit A11	gene	DOID:0112094	nuclear type mitochondrial complex I deficiency 14		ISO	RGD:1353803	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 14 | ClinVar Annotator: match by term: NDUFA11-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32712949|PMID:9536098
8712981	Ndufa11	NADH:ubiquinone oxidoreductase subunit A11	gene	DOID:10534	stomach cancer		ISO	RGD:1353803	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8712981	Ndufa11	NADH:ubiquinone oxidoreductase subunit A11	gene	DOID:2033	communication disorder		ISO	RGD:1353803	D	RGD:9068941	20231109	RGD		DNA:SNP:CDS:multiple (human)	PMID:35642741|REF_RGD_ID:401854249
8712981	Ndufa11	NADH:ubiquinone oxidoreductase subunit A11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712981	Ndufa11	NADH:ubiquinone oxidoreductase subunit A11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353803	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	PMID:25741868|PMID:28492532
8712989	Cnrip1	cannabinoid receptor interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8712989	Cnrip1	cannabinoid receptor interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8712997	Ramp2	receptor activity modifying protein 2	gene	DOID:10763	hypertension		ISO	RGD:61872	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:heart myocardium, aorta	PMID:16450076|REF_RGD_ID:1625300
8712997	Ramp2	receptor activity modifying protein 2	gene	DOID:10763	hypertension		ISO	RGD:735315	D	RGD:9068941	20200609	RGD		associated with Pregnancy Complications	PMID:11600589|REF_RGD_ID:1642682
8712997	Ramp2	receptor activity modifying protein 2	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:735315	D	RGD:9068941	20200609	RGD		DNA:SNP:intron	PMID:15797661|REF_RGD_ID:1642679
8712997	Ramp2	receptor activity modifying protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8712997	Ramp2	receptor activity modifying protein 2	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:61872	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung	PMID:17068622|REF_RGD_ID:1642683
8712997	Ramp2	receptor activity modifying protein 2	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:735315	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
8712997	Ramp2	receptor activity modifying protein 2	gene	DOID:299	adenocarcinoma		ISO	RGD:735315	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17671114
8712997	Ramp2	receptor activity modifying protein 2	gene	DOID:557	kidney disease		ISO	RGD:61872	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:10733909|REF_RGD_ID:61729
8712997	Ramp2	receptor activity modifying protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8712997	Ramp2	receptor activity modifying protein 2	gene	DOID:6000	congestive heart failure		ISO	RGD:61872	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:12623952|REF_RGD_ID:704370
8712997	Ramp2	receptor activity modifying protein 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:61872	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart right ventricle	PMID:17437045|REF_RGD_ID:1642678
8712997	Ramp2	receptor activity modifying protein 2	gene	DOID:672	spleen cancer	ameliorates	ISO	RGD:62164	D	RGD:9068941	20220609	RGD			PMID:31754214|REF_RGD_ID:152985691
8712997	Ramp2	receptor activity modifying protein 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:62164	D	RGD:9068941	20220609	RGD			PMID:31754214|REF_RGD_ID:152985691
8712997	Ramp2	receptor activity modifying protein 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:61872	D	RGD:9068941	20200609	RGD			PMID:16713642|REF_RGD_ID:1625319
8712997	Ramp2	receptor activity modifying protein 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:61872	D	RGD:9068941	20200609	RGD			PMID:15680493|REF_RGD_ID:1642686
8712997	Ramp2	receptor activity modifying protein 2	gene	DOID:9004657	Weight Gain		ISO	RGD:735315	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8712997	Ramp2	receptor activity modifying protein 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:735315	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17671114
8712997	Ramp2	receptor activity modifying protein 2	gene	DOID:9005587	Starvation		ISO	RGD:61872	D	RGD:9068941	20200609	RGD			PMID:17335899|REF_RGD_ID:1625307
8712997	Ramp2	receptor activity modifying protein 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:61872	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:14717924|REF_RGD_ID:1642701
8712997	Ramp2	receptor activity modifying protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8712997	Ramp2	receptor activity modifying protein 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:61872	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ventricle myocardium	PMID:16987513|REF_RGD_ID:1642684
8712997	Ramp2	receptor activity modifying protein 2	gene	DOID:9256	colorectal cancer		ISO	RGD:735315	D	RGD:9068941	20220609	RGD		mRNA:increased expression:colorectum (human)	PMID:21839130|REF_RGD_ID:152985531
8713005	Nmnat3	nicotinamide nucleotide adenylyltransferase 3	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1319314	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8713005	Nmnat3	nicotinamide nucleotide adenylyltransferase 3	gene	DOID:1686	glaucoma	treatment	ISO	RGD:1309140	D	RGD:9068941	20200609	RGD			PMID:24136224|REF_RGD_ID:13782046
8713005	Nmnat3	nicotinamide nucleotide adenylyltransferase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8713005	Nmnat3	nicotinamide nucleotide adenylyltransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713032	Hsd11b1l	hydroxysteroid 11-beta dehydrogenase 1 like	gene	DOID:3275	thymoma		ISO	RGD:1605800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8713032	Hsd11b1l	hydroxysteroid 11-beta dehydrogenase 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713032	Hsd11b1l	hydroxysteroid 11-beta dehydrogenase 1 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8713044	Bcas4	breast carcinoma amplified sequence 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713044	Bcas4	breast carcinoma amplified sequence 4	gene	DOID:1115	sarcoma		ISO	RGD:1352594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8713044	Bcas4	breast carcinoma amplified sequence 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713044	Bcas4	breast carcinoma amplified sequence 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8713054	Adss1	adenylosuccinate synthase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713054	Adss1	adenylosuccinate synthase 1	gene	DOID:0060260	ptosis		ISO	RGD:1351020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:26506222|PMID:28492532|PMID:32331917
8713054	Adss1	adenylosuccinate synthase 1	gene	DOID:0111193	facioscapulohumeral muscular dystrophy 2		ISO	RGD:1351020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weakness of facial musculature	PMID:25741868|PMID:26506222|PMID:28492532|PMID:32331917
8713054	Adss1	adenylosuccinate synthase 1	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1351020	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Fetal akinesia sequence	PMID:25741868|PMID:26506222|PMID:28492532|PMID:31680123
8713054	Adss1	adenylosuccinate synthase 1	gene	DOID:1115	sarcoma		ISO	RGD:1590342	D	RGD:9068941	20200609	RGD		protein:decreased activity:tumor (rat)	PMID:2560335|REF_RGD_ID:5143928
8713054	Adss1	adenylosuccinate synthase 1	gene	DOID:11720	distal myopathy		ISO	RGD:1351020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:25741868|PMID:26506222|PMID:28492532|PMID:32331917
8713054	Adss1	adenylosuccinate synthase 1	gene	DOID:12895	keratoconjunctivitis sicca		ISO	RGD:1351020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Keratoconjunctivitis sicca	PMID:25741868|PMID:26506222|PMID:28492532|PMID:32331917
8713054	Adss1	adenylosuccinate synthase 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:26506222|PMID:28492532|PMID:32331917
8713054	Adss1	adenylosuccinate synthase 1	gene	DOID:13934	facial paralysis		ISO	RGD:1351020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial palsy	PMID:25741868|PMID:26506222|PMID:28492532|PMID:32331917
8713054	Adss1	adenylosuccinate synthase 1	gene	DOID:529	blepharospasm		ISO	RGD:1351020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharospasm	PMID:25741868|PMID:26506222|PMID:28492532|PMID:32331917
8713054	Adss1	adenylosuccinate synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713054	Adss1	adenylosuccinate synthase 1	gene	DOID:630	genetic disease		ISO	RGD:1351020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8713054	Adss1	adenylosuccinate synthase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1590342	D	RGD:9068941	20200609	RGD		protein:increased activity:heart (rat)	PMID:3360219|REF_RGD_ID:1598762
8713054	Adss1	adenylosuccinate synthase 1	gene	DOID:9006602	Distal Myopathy 5		ISO	RGD:1351020	D	RGD:7240710	20190315	OMIM			
8713054	Adss1	adenylosuccinate synthase 1	gene	DOID:9006602	Distal Myopathy 5		ISO	RGD:1351020	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADSS1-related condition | ClinVar Annotator: match by term: MYOPATHY, DISTAL, 5 | ClinVar Annotator: match by term: Myopathy, distal, 5 | ClinVar Annotator: match by term: myopathy, distal, 5	PMID:25741868|PMID:26506222|PMID:27868399|PMID:28268051|PMID:28492532|PMID:32331917
8713054	Adss1	adenylosuccinate synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713054	Adss1	adenylosuccinate synthase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8713054	Adss1	adenylosuccinate synthase 1	gene	DOID:9884	muscular dystrophy		ISO	RGD:1351020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868|PMID:26506222|PMID:28492532|PMID:32331917
8713073	Zbtb49	zinc finger and BTB domain containing 49	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8713073	Zbtb49	zinc finger and BTB domain containing 49	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713073	Zbtb49	zinc finger and BTB domain containing 49	gene	DOID:5041	esophageal cancer		ISO	RGD:1315520	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713073	Zbtb49	zinc finger and BTB domain containing 49	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713073	Zbtb49	zinc finger and BTB domain containing 49	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8713097	CUNH19orf18	chromosome unknown C19orf18 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713097	CUNH19orf18	chromosome unknown C19orf18 homolog	gene	DOID:303	substance-related disorder		ISO	RGD:1342903	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8713097	CUNH19orf18	chromosome unknown C19orf18 homolog	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8713097	CUNH19orf18	chromosome unknown C19orf18 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1342903	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713097	CUNH19orf18	chromosome unknown C19orf18 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713097	CUNH19orf18	chromosome unknown C19orf18 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8713107	Toe1	target of EGR1, exonuclease	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8713107	Toe1	target of EGR1, exonuclease	gene	DOID:0060264	pontocerebellar hypoplasia		ISO	RGD:1319240	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28092684
8713107	Toe1	target of EGR1, exonuclease	gene	DOID:0060276	pontocerebellar hypoplasia type 7		ISO	RGD:1319240	D	RGD:7240710	20190315	OMIM			
8713107	Toe1	target of EGR1, exonuclease	gene	DOID:0060276	pontocerebellar hypoplasia type 7		ISO	RGD:1319240	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 | ClinVar Annotator: match by term: Pontocerebellar Hypoplasia Type 7 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 7 | ClinVar Annotator: match by term: TOE1-related condition	PMID:17576681|PMID:25741868|PMID:28092684|PMID:28492532|PMID:9536098
8713107	Toe1	target of EGR1, exonuclease	gene	DOID:1324	lung cancer		ISO	RGD:1319240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
8713107	Toe1	target of EGR1, exonuclease	gene	DOID:1909	melanoma		ISO	RGD:1319240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8713107	Toe1	target of EGR1, exonuclease	gene	DOID:4362	cervical cancer		ISO	RGD:1319240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8713107	Toe1	target of EGR1, exonuclease	gene	DOID:480	movement disease		ISO	RGD:1319240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
8713107	Toe1	target of EGR1, exonuclease	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713107	Toe1	target of EGR1, exonuclease	gene	DOID:630	genetic disease		ISO	RGD:1319240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8713107	Toe1	target of EGR1, exonuclease	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713107	Toe1	target of EGR1, exonuclease	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319240	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12056405|PMID:14618256|PMID:16408224|PMID:17576681|PMID:18271935|PMID:18534194|PMID:19725997|PMID:20663686|PMID:20725929|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098
8713107	Toe1	target of EGR1, exonuclease	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319240	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12056405|PMID:14618256|PMID:16199547|PMID:16408224|PMID:17576681|PMID:18271935|PMID:18534194|PMID:19725997|PMID:20663686|PMID:20725929|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:27720647|PMID:28492532|PMID:28644590|PMID:36988593|PMID:9536098
8713107	Toe1	target of EGR1, exonuclease	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319240	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12056405|PMID:14618256|PMID:15180946|PMID:16199547|PMID:16408224|PMID:17576681|PMID:18271935|PMID:18534194|PMID:19725997|PMID:20663686|PMID:20725929|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:27720647|PMID:28492532|PMID:28644590|PMID:30716719|PMID:32821650|PMID:35988656|PMID:36988593|PMID:9536098
8713107	Toe1	target of EGR1, exonuclease	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8713107	Toe1	target of EGR1, exonuclease	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319240	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8713124	Mbd6	methyl-CpG binding domain protein 6	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1322301	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:	PMID:23055267|REF_RGD_ID:9590163
8713124	Mbd6	methyl-CpG binding domain protein 6	gene	DOID:10534	stomach cancer		ISO	RGD:1322301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713124	Mbd6	methyl-CpG binding domain protein 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8713124	Mbd6	methyl-CpG binding domain protein 6	gene	DOID:1115	sarcoma		ISO	RGD:1322301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8713124	Mbd6	methyl-CpG binding domain protein 6	gene	DOID:1909	melanoma		ISO	RGD:1322301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8713124	Mbd6	methyl-CpG binding domain protein 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8713124	Mbd6	methyl-CpG binding domain protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713124	Mbd6	methyl-CpG binding domain protein 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713124	Mbd6	methyl-CpG binding domain protein 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8713164	Prss56	serine protease 56	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:5128927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713164	Prss56	serine protease 56	gene	DOID:0060835	isolated microphthalmia 6		ISO	RGD:5128927	D	RGD:7240710	20180130	OMIM			
8713164	Prss56	serine protease 56	gene	DOID:0060835	isolated microphthalmia 6		ISO	RGD:5128927	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Isolated microphthalmia 6 | ClinVar Annotator: match by term: MICROPHTHALMIA, ISOLATED 6 | ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC | ClinVar Annotator: match by term: Microphthalmia, isolated 6 | ClinVar Annotator: match by term: PRSS56-related condition	PMID:16199547|PMID:17576681|PMID:19526372|PMID:21397065|PMID:21532570|PMID:21670352|PMID:21850159|PMID:22908982|PMID:23127749|PMID:24033266|PMID:24227917|PMID:25587058|PMID:25741868|PMID:28492532|PMID:29450879|PMID:31266062|PMID:31992737|PMID:32052405|PMID:32830442|PMID:32996714|PMID:33203948|PMID:35610621|PMID:38749530|PMID:9536098
8713164	Prss56	serine protease 56	gene	DOID:0080634	nanophthalmos		ISO	RGD:5128927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nanophthalmia	PMID:25741868
8713164	Prss56	serine protease 56	gene	DOID:10629	microphthalmia		ISO	RGD:5128927	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21532570
8713164	Prss56	serine protease 56	gene	DOID:11830	myopia		ISO	RGD:5128927	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23396134
8713164	Prss56	serine protease 56	gene	DOID:13550	angle-closure glaucoma		ISO	RGD:1620006	D	RGD:9068941	20250626	MouseDO			
8713164	Prss56	serine protease 56	gene	DOID:13550	angle-closure glaucoma		ISO	RGD:5128927	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21532570
8713164	Prss56	serine protease 56	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:5128927	D	RGD:9068941	20220714	RGD		mRNA:altered expression:liver (human)	PMID:31687280|REF_RGD_ID:152998978
8713164	Prss56	serine protease 56	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:5128927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713164	Prss56	serine protease 56	gene	DOID:630	genetic disease		ISO	RGD:5128927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8713164	Prss56	serine protease 56	gene	DOID:9834	hyperopia		ISO	RGD:5128927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
8713181	Mafb	MAF bZIP transcription factor B	gene	DOID:0060949	3-hydroxyisobutryl-CoA hydrolase deficiency		ISO	RGD:732545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: 3-hydroxyisobutyryl-CoA hydrolase deficiency	PMID:25741868
8713181	Mafb	MAF bZIP transcription factor B	gene	DOID:0061028	Duane retraction syndrome 2		ISO	RGD:732545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Duane retraction syndrome 2	PMID:27181683
8713181	Mafb	MAF bZIP transcription factor B	gene	DOID:0061029	Duane retraction syndrome 3		ISO	RGD:732545	D	RGD:7240710	20200304	OMIM			
8713181	Mafb	MAF bZIP transcription factor B	gene	DOID:0061029	Duane retraction syndrome 3		ISO	RGD:732545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DUANE RETRACTION SYNDROME 3 | ClinVar Annotator: match by term: Duane retraction syndrome 3 with or without deafness	PMID:22387013|PMID:23956186|PMID:24989131|PMID:25741868|PMID:27181683|PMID:27385948|PMID:28492532
8713181	Mafb	MAF bZIP transcription factor B	gene	DOID:0080395	orofacial cleft 1		ISO	RGD:732545	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Orofacial cleft 1	PMID:25741868
8713181	Mafb	MAF bZIP transcription factor B	gene	DOID:0080600	COVID-19		ISO	RGD:732545	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8713181	Mafb	MAF bZIP transcription factor B	gene	DOID:0111534	multicentric carpotarsal osteolysis syndrome		ISO	RGD:732545	D	RGD:7240710	20180130	OMIM			
8713181	Mafb	MAF bZIP transcription factor B	gene	DOID:0111534	multicentric carpotarsal osteolysis syndrome		ISO	RGD:732545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Carpal osteolysis | ClinVar Annotator: match by term: MAFB-related condition | ClinVar Annotator: match by term: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME | ClinVar Annotator: match by term: Multicentric carpo-tarsal osteolysis with or without nephropathy | ClinVar Annotator: match by term: OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH OR WITHOUT NEPHROPATHY	PMID:20436469|PMID:22387013|PMID:23956186|PMID:24989131|PMID:25741868|PMID:27385948|PMID:28492532|PMID:29675035|PMID:30208859|PMID:34722426
8713181	Mafb	MAF bZIP transcription factor B	gene	DOID:1059	intellectual disability		ISO	RGD:732545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8713181	Mafb	MAF bZIP transcription factor B	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:732545	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8713181	Mafb	MAF bZIP transcription factor B	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:732546	D	RGD:9068941	20220825	MouseDO		OMIM:126800 | OMIM:604356	
8713181	Mafb	MAF bZIP transcription factor B	gene	DOID:1826	epilepsy		ISO	RGD:732545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:22387013|PMID:24989131|PMID:28492532
8713181	Mafb	MAF bZIP transcription factor B	gene	DOID:576	proteinuria		ISO	RGD:732545	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868
8713181	Mafb	MAF bZIP transcription factor B	gene	DOID:630	genetic disease		ISO	RGD:732545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8713181	Mafb	MAF bZIP transcription factor B	gene	DOID:9002008	BROWN SYNDROME		ISO	RGD:732545	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Brown syndrome	PMID:25741868
8713181	Mafb	MAF bZIP transcription factor B	gene	DOID:9005616	Micrognathism		ISO	RGD:732545	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
8713181	Mafb	MAF bZIP transcription factor B	gene	DOID:9008305	Talipes Cavus		ISO	RGD:732545	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868
8713181	Mafb	MAF bZIP transcription factor B	gene	DOID:9296	cleft lip		ISO	RGD:732545	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20436469
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:1317307	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebral arteriovenous malformation	PMID:25741868
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:10283	prostate cancer		ISO	RGD:1317307	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:10283	prostate cancer		ISO	RGD:1317307	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:22622578|PMID:35101336
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:1909	melanoma		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:22622578|PMID:26359337|PMID:27993330
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:2043	hepatitis B		ISO	RGD:1317307	D	RGD:9068941	20220317	RGD		associated with hepatocellular carcinoma;mRNA:increased expression:liver (human)	PMID:25151370|REF_RGD_ID:151665185
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:3275	thymoma		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317307	D	RGD:9068941	20220317	RGD		mRNA:increased expression:lung (human)	PMID:32537022|REF_RGD_ID:151665184
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1317307	D	RGD:9068941	20220317	RGD		mRNA:increased expression:lung (human)	PMID:31711559|REF_RGD_ID:151665187
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:4927	Klatskin's tumor	sexual_dimorphism	ISO	RGD:1317307	D	RGD:9068941	20220310	RGD		DNA:substitutions, insertion/deletions: (human)	PMID:33387086|REF_RGD_ID:126848756
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:4947	cholangiocarcinoma	sexual_dimorphism	ISO	RGD:1317307	D	RGD:9068941	20220317	RGD		DNA:substitutions, insertion/deletions: (human)	PMID:28000796|REF_RGD_ID:151665188
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317307	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317307	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317307	D	RGD:9068941	20220317	RGD		mRNA:decreased expression:liver (human)	PMID:28000796|REF_RGD_ID:151665188
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317307	D	RGD:9068941	20220324	RGD		mRNA:increased expression:liver (human)	PMID:31776854|REF_RGD_ID:151665343
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1317307	D	RGD:9068941	20220317	RGD		mRNA:increased expression:liver (human)	PMID:25151370|REF_RGD_ID:151665185
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1317307	D	RGD:9068941	20220317	RGD		protein:increased expression:liver (human)	PMID:28205209|REF_RGD_ID:151665186
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
8713191	Prex2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713235	Nckap1l	NCK associated protein 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713235	Nckap1l	NCK associated protein 1 like	gene	DOID:0112015	immunodeficiency 72		ISO	RGD:1323803	D	RGD:7240710	20200902	OMIM			
8713235	Nckap1l	NCK associated protein 1 like	gene	DOID:0112015	immunodeficiency 72		ISO	RGD:1323803	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION AND LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 72 with autoinflammation | ClinVar Annotator: match by term: NCKAP1L-related condition	PMID:25741868|PMID:28492532|PMID:32647003|PMID:35753512
8713235	Nckap1l	NCK associated protein 1 like	gene	DOID:10534	stomach cancer		ISO	RGD:1323803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713235	Nckap1l	NCK associated protein 1 like	gene	DOID:1115	sarcoma		ISO	RGD:1323803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8713235	Nckap1l	NCK associated protein 1 like	gene	DOID:1909	melanoma		ISO	RGD:1323803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8713235	Nckap1l	NCK associated protein 1 like	gene	DOID:3275	thymoma		ISO	RGD:1323803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8713235	Nckap1l	NCK associated protein 1 like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8713235	Nckap1l	NCK associated protein 1 like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8713235	Nckap1l	NCK associated protein 1 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1323803	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713235	Nckap1l	NCK associated protein 1 like	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323803	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8713235	Nckap1l	NCK associated protein 1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713235	Nckap1l	NCK associated protein 1 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8713287	Krt18	keratin 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8713287	Krt18	keratin 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713287	Krt18	keratin 18	gene	DOID:0060643	primary sclerosing cholangitis	severity	ISO	RGD:735767	D	RGD:9068941	20200609	RGD		protein:increased degradation:serum (human)	PMID:26195313|REF_RGD_ID:18337492
8713287	Krt18	keratin 18	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:619935	D	RGD:9068941	20200609	RGD		associated with Metabolic Syndrome; protein:increased expression:liver, serum (rat)	PMID:29989845|REF_RGD_ID:26884460
8713287	Krt18	keratin 18	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:735767	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:30089409|REF_RGD_ID:18337482
8713287	Krt18	keratin 18	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	disease_progression	ISO	RGD:619935	D	RGD:9068941	20200609	RGD		protein:increased degradation:serum (rat)	PMID:30149902|REF_RGD_ID:18337497
8713287	Krt18	keratin 18	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	disease_progression	ISO	RGD:735767	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:30839434|REF_RGD_ID:18337481
8713287	Krt18	keratin 18	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:1557581	D	RGD:9068941	20220825	MouseDO			
8713287	Krt18	keratin 18	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:735767	D	RGD:9068941	20200609	RGD		protein:increased degradation:serum (human)	PMID:19333204|REF_RGD_ID:18337493
8713287	Krt18	keratin 18	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	severity	ISO	RGD:619935	D	RGD:9068941	20200609	RGD		protein:altered degradation:liver, serum (rat)	PMID:24071521|REF_RGD_ID:27226810
8713287	Krt18	keratin 18	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	severity	ISO	RGD:735767	D	RGD:9068941	20200609	RGD		associated with morbid obesity;protein:increased degradation:plasma (human)	PMID:18995215|REF_RGD_ID:18337495
8713287	Krt18	keratin 18	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	severity	ISO	RGD:735767	D	RGD:9068941	20200609	RGD		protein:increased degradation:plasma (human)	PMID:19585618|REF_RGD_ID:18337489
8713287	Krt18	keratin 18	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	severity	ISO	RGD:735767	D	RGD:9068941	20200609	RGD		protein:increased degradation:serum (human)	PMID:24630506|REF_RGD_ID:18337490
8713287	Krt18	keratin 18	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	severity	ISO	RGD:735767	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:21993925|REF_RGD_ID:18337499
8713287	Krt18	keratin 18	gene	DOID:10534	stomach cancer		ISO	RGD:735767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713287	Krt18	keratin 18	gene	DOID:12236	primary biliary cholangitis	severity	ISO	RGD:735767	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:26110613|REF_RGD_ID:18337483
8713287	Krt18	keratin 18	gene	DOID:1324	lung cancer		ISO	RGD:735767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8713287	Krt18	keratin 18	gene	DOID:3571	liver cancer	severity	ISO	RGD:1557581	D	RGD:9068941	20200609	RGD		associated with fatty liver disease	PMID:27689336|REF_RGD_ID:18337485
8713287	Krt18	keratin 18	gene	DOID:409	liver disease	severity	ISO	RGD:735767	D	RGD:9068941	20200609	RGD		protein:increased degradation:serum (human)	PMID:17306787|REF_RGD_ID:18337488
8713287	Krt18	keratin 18	gene	DOID:5082	liver cirrhosis		ISO	RGD:735767	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20538000
8713287	Krt18	keratin 18	gene	DOID:5082	liver cirrhosis		ISO	RGD:735767	D	RGD:9068941	20200609	RGD		protein:H127L	PMID:9011570|REF_RGD_ID:1624318
8713287	Krt18	keratin 18	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:735767	D	RGD:9068941	20200609	RGD		protein:increased expression: serum (human)	PMID:29023872|REF_RGD_ID:18337484
8713287	Krt18	keratin 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713287	Krt18	keratin 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1557581	D	RGD:9068941	20220825	MouseDO		OMIM:114550	
8713287	Krt18	keratin 18	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:619935	D	RGD:9068941	20200609	RGD		protein:increased expression:liver, plasma membrane (rat)	PMID:21138630|REF_RGD_ID:27226809
8713287	Krt18	keratin 18	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735767	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15999547|PMID:17072980|PMID:18395095|PMID:25380136
8713287	Krt18	keratin 18	gene	DOID:9004017	Chronic Hepatitis C	disease_progression	ISO	RGD:735767	D	RGD:9068941	20200609	RGD		protein:increased degradation:serum (human)	PMID:22404726|REF_RGD_ID:18337496
8713287	Krt18	keratin 18	gene	DOID:9004017	Chronic Hepatitis C	disease_progression	ISO	RGD:735767	D	RGD:9068941	20200609	RGD		protein:increased expression:liver, serum (human)	PMID:23820504|REF_RGD_ID:18337500
8713287	Krt18	keratin 18	gene	DOID:9004017	Chronic Hepatitis C	disease_progression	ISO	RGD:735767	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:30839434|REF_RGD_ID:18337481
8713287	Krt18	keratin 18	gene	DOID:9004017	Chronic Hepatitis C	severity	ISO	RGD:735767	D	RGD:9068941	20200609	RGD		protein:increased degradation:serum (human)	PMID:19333204|REF_RGD_ID:18337493
8713287	Krt18	keratin 18	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:735767	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20538000
8713287	Krt18	keratin 18	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:735767	D	RGD:9068941	20200609	RGD		protein:increased degradation:serum (human)	PMID:17847110|REF_RGD_ID:18337491
8713287	Krt18	keratin 18	gene	DOID:9005749	Necrosis		ISO	RGD:735767	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19783637
8713287	Krt18	keratin 18	gene	DOID:9006550	hepatosplenic schistosomiasis	disease_progression	ISO	RGD:1557581	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (mouse, human)	PMID:21357724|REF_RGD_ID:21406434
8713287	Krt18	keratin 18	gene	DOID:9006550	hepatosplenic schistosomiasis	disease_progression	ISO	RGD:735767	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (mouse, human)	PMID:21357724|REF_RGD_ID:21406434
8713287	Krt18	keratin 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713287	Krt18	keratin 18	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:735767	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19409407|PMID:19796649
8713287	Krt18	keratin 18	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1557581	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver (mouse)	PMID:17340120|REF_RGD_ID:18337498
8713287	Krt18	keratin 18	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:735767	D	RGD:9068941	20240808	CTD		CTD Direct Evidence: marker/mechanism	PMID:19783637|PMID:33483742|PMID:38521541
8713287	Krt18	keratin 18	gene	DOID:9007543	Familial Cirrhosis		ISO	RGD:735767	D	RGD:7240710	20260715	OMIM			
8713287	Krt18	keratin 18	gene	DOID:9007543	Familial Cirrhosis		ISO	RGD:735767	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Cirrhosis, familial	PMID:25741868
8713287	Krt18	keratin 18	gene	DOID:9008163	Chronic Hepatitis B	disease_progression	ISO	RGD:735767	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:liver (human)	PMID:20334631|REF_RGD_ID:18337487
8713287	Krt18	keratin 18	gene	DOID:9008163	Chronic Hepatitis B	severity	ISO	RGD:735767	D	RGD:9068941	20200609	RGD		protein:increased degradation:serum (human)	PMID:28579343|REF_RGD_ID:18337494
8713287	Krt18	keratin 18	gene	DOID:9008691	Liver Injury	susceptibility	ISO	RGD:735767	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.D238E, p.D397E (human)	PMID:24463813|REF_RGD_ID:18337486
8713287	Krt18	keratin 18	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:735767	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20061804|PMID:25330770
8713287	Krt18	keratin 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8713303	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8713303	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713303	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:10534	stomach cancer		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713303	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:1115	sarcoma		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8713303	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8713303	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8713303	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:4362	cervical cancer		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8713303	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8713303	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1345894	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713303	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713303	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1345894	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8713303	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713303	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8713303	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:9256	colorectal cancer		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8713347	Eef1akmt1	EEF1A lysine methyltransferase 1	gene	DOID:1115	sarcoma		ISO	RGD:1606676	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8713347	Eef1akmt1	EEF1A lysine methyltransferase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8713347	Eef1akmt1	EEF1A lysine methyltransferase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8713347	Eef1akmt1	EEF1A lysine methyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8713356	Unk	unk zinc finger	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8713356	Unk	unk zinc finger	gene	DOID:10534	stomach cancer		ISO	RGD:1319446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713356	Unk	unk zinc finger	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8713356	Unk	unk zinc finger	gene	DOID:4362	cervical cancer		ISO	RGD:1319446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8713356	Unk	unk zinc finger	gene	DOID:5041	esophageal cancer		ISO	RGD:1319446	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713356	Unk	unk zinc finger	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713356	Unk	unk zinc finger	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8713356	Unk	unk zinc finger	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8713356	Unk	unk zinc finger	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8713386	Eif3k	eukaryotic translation initiation factor 3 subunit K	gene	DOID:10534	stomach cancer		ISO	RGD:1342979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713386	Eif3k	eukaryotic translation initiation factor 3 subunit K	gene	DOID:1115	sarcoma		ISO	RGD:1342979	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8713386	Eif3k	eukaryotic translation initiation factor 3 subunit K	gene	DOID:1909	melanoma		ISO	RGD:1342979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8713386	Eif3k	eukaryotic translation initiation factor 3 subunit K	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8713386	Eif3k	eukaryotic translation initiation factor 3 subunit K	gene	DOID:5041	esophageal cancer		ISO	RGD:1342979	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713386	Eif3k	eukaryotic translation initiation factor 3 subunit K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713386	Eif3k	eukaryotic translation initiation factor 3 subunit K	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8713386	Eif3k	eukaryotic translation initiation factor 3 subunit K	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8713386	Eif3k	eukaryotic translation initiation factor 3 subunit K	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8713405	Iqce	IQ motif containing E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713405	Iqce	IQ motif containing E	gene	DOID:10534	stomach cancer		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713405	Iqce	IQ motif containing E	gene	DOID:11830	myopia		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
8713405	Iqce	IQ motif containing E	gene	DOID:1324	lung cancer		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8713405	Iqce	IQ motif containing E	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8713405	Iqce	IQ motif containing E	gene	DOID:3275	thymoma		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8713405	Iqce	IQ motif containing E	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8713405	Iqce	IQ motif containing E	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8713405	Iqce	IQ motif containing E	gene	DOID:5041	esophageal cancer		ISO	RGD:1350439	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713405	Iqce	IQ motif containing E	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8713405	Iqce	IQ motif containing E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713405	Iqce	IQ motif containing E	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8713405	Iqce	IQ motif containing E	gene	DOID:630	genetic disease		ISO	RGD:1350439	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8713405	Iqce	IQ motif containing E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8713405	Iqce	IQ motif containing E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713405	Iqce	IQ motif containing E	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8713405	Iqce	IQ motif containing E	gene	DOID:9009200	Postaxial Polydactyly, Type A7		ISO	RGD:1350439	D	RGD:7240710	20190315	OMIM			
8713405	Iqce	IQ motif containing E	gene	DOID:9009200	Postaxial Polydactyly, Type A7		ISO	RGD:1350439	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: IQCE-related condition | ClinVar Annotator: match by term: POLYDACTYLY, POSTAXIAL, TYPE A7 | ClinVar Annotator: match by term: Polydactyly, postaxial, type a7	PMID:25741868|PMID:28488682|PMID:28492532|PMID:31549751|PMID:35599849
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:0060868	leukoencephalopathy with vanishing white matter		ISO	RGD:731256	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter	PMID:11704758|PMID:12707859|PMID:15054402|PMID:16199547|PMID:19625339|PMID:21484434|PMID:21560189|PMID:22992991|PMID:25031760|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26740508|PMID:28041799|PMID:28492532|PMID:29700822|PMID:29706645|PMID:31438897|PMID:34745209
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:0070373	leukoencephalopathy with vanishing white matter 2		ISO	RGD:731256	D	RGD:7240710	20230505	OMIM			
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:0070373	leukoencephalopathy with vanishing white matter 2		ISO	RGD:731256	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2 | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 2	PMID:11704758|PMID:12707859|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15776425|PMID:16199547|PMID:18519871|PMID:19625339|PMID:21307862|PMID:21484434|PMID:21560189|PMID:22992991|PMID:25031760|PMID:25741868|PMID:25761052|PMID:25843247|PMID:28041799|PMID:28492532|PMID:29700822|PMID:29706645|PMID:31438897|PMID:33432707|PMID:34745209|PMID:35897042|PMID:37267771
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:0070374	leukoencephalopathy with vanishing white matter 1		ISO	RGD:731256	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1	PMID:21307862|PMID:25741868|PMID:25761052|PMID:26740508|PMID:28492532|PMID:33432707|PMID:34745209|PMID:35897042
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:1115	sarcoma		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:731256	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:11704758|PMID:15054402|PMID:19625339|PMID:21560189|PMID:22992991|PMID:25741868|PMID:25761052|PMID:28492532|PMID:29706645|PMID:31438897|PMID:34745209
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:1324	lung cancer		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:1909	melanoma		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:3275	thymoma		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:3883	Lynch syndrome		ISO	RGD:11548303	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms	PMID:25741868
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:11704758|PMID:12707859|PMID:16199547|PMID:25741868|PMID:28492532
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:5041	esophageal cancer		ISO	RGD:731256	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:731256	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:11704758|PMID:12707859|PMID:15054402|PMID:19625339|PMID:21560189|PMID:22992991|PMID:25741868|PMID:25761052|PMID:28492532|PMID:29706645|PMID:31438897|PMID:34745209
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:630	genetic disease		ISO	RGD:731256	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:731256	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: CACH/VWM syndrome	PMID:11704758|PMID:12707859|PMID:14566705|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:18263758|PMID:20301435|PMID:21307862|PMID:21484434|PMID:21560189|PMID:22128017|PMID:22430157|PMID:22729508|PMID:22992991|PMID:24033266|PMID:25031760|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26740508|PMID:27159321|PMID:28041799|PMID:28492532|PMID:29632131|PMID:29700822|PMID:29706645|PMID:30266093|PMID:31438897|PMID:33432707|PMID:34745209|PMID:35897042
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CACH/VWM syndrome	PMID:11704758|PMID:12707859|PMID:15054402|PMID:16199547|PMID:19625339|PMID:21484434|PMID:21560189|PMID:22992991|PMID:25031760|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26740508|PMID:28041799|PMID:28492532|PMID:29700822|PMID:29706645|PMID:31438897|PMID:34745209
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:21307862|PMID:21484434|PMID:25031760|PMID:25741868|PMID:25761052|PMID:25843247|PMID:28041799|PMID:28492532|PMID:29700822|PMID:29706645|PMID:31438897|PMID:33432707|PMID:34745209|PMID:35897042
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713447	Eif2b2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8713459	Rab20	RAB20, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713459	Rab20	RAB20, member RAS oncogene family	gene	DOID:0080600	COVID-19		ISO	RGD:1315116	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8713466	Dmtf1	cyclin D binding myb like transcription factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8713466	Dmtf1	cyclin D binding myb like transcription factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713466	Dmtf1	cyclin D binding myb like transcription factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:736177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713466	Dmtf1	cyclin D binding myb like transcription factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8713466	Dmtf1	cyclin D binding myb like transcription factor 1	gene	DOID:1324	lung cancer		ISO	RGD:736177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8713466	Dmtf1	cyclin D binding myb like transcription factor 1	gene	DOID:1909	melanoma		ISO	RGD:736177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8713466	Dmtf1	cyclin D binding myb like transcription factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8713466	Dmtf1	cyclin D binding myb like transcription factor 1	gene	DOID:3070	high grade glioma		ISO	RGD:736177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8713466	Dmtf1	cyclin D binding myb like transcription factor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8713466	Dmtf1	cyclin D binding myb like transcription factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8713466	Dmtf1	cyclin D binding myb like transcription factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736177	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713466	Dmtf1	cyclin D binding myb like transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713466	Dmtf1	cyclin D binding myb like transcription factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713466	Dmtf1	cyclin D binding myb like transcription factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8713491	Galnt5	polypeptide N-acetylgalactosaminyltransferase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713491	Galnt5	polypeptide N-acetylgalactosaminyltransferase 5	gene	DOID:10534	stomach cancer		ISO	RGD:737016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713491	Galnt5	polypeptide N-acetylgalactosaminyltransferase 5	gene	DOID:1115	sarcoma		ISO	RGD:737016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8713491	Galnt5	polypeptide N-acetylgalactosaminyltransferase 5	gene	DOID:1324	lung cancer		ISO	RGD:737016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8713491	Galnt5	polypeptide N-acetylgalactosaminyltransferase 5	gene	DOID:5041	esophageal cancer		ISO	RGD:737016	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713491	Galnt5	polypeptide N-acetylgalactosaminyltransferase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713491	Galnt5	polypeptide N-acetylgalactosaminyltransferase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713505	Gpr37	G protein-coupled receptor 37	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713505	Gpr37	G protein-coupled receptor 37	gene	DOID:12217	Lewy body dementia		ISO	RGD:735262	D	RGD:9068941	20200609	RGD			PMID:14991825|REF_RGD_ID:13504666
8713505	Gpr37	G protein-coupled receptor 37	gene	DOID:14330	Parkinson's disease		ISO	RGD:735262	D	RGD:9068941	20200609	RGD			PMID:14991825|REF_RGD_ID:13504666
8713505	Gpr37	G protein-coupled receptor 37	gene	DOID:1790	malignant mesothelioma		ISO	RGD:735262	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
8713505	Gpr37	G protein-coupled receptor 37	gene	DOID:5041	esophageal cancer		ISO	RGD:735262	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713505	Gpr37	G protein-coupled receptor 37	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713505	Gpr37	G protein-coupled receptor 37	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8713505	Gpr37	G protein-coupled receptor 37	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8713511	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8713511	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713511	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:0060232	branchiootic syndrome		ISO	RGD:1351643	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inner ear Malformation	
8713511	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:0060250	idiopathic scoliosis		ISO	RGD:1351643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1	PMID:25741868|PMID:28492532
8713511	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:0070602	autosomal dominant nonsyndromic deafness 80		ISO	RGD:1351643	D	RGD:7240710	20210505	OMIM			
8713511	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:0070602	autosomal dominant nonsyndromic deafness 80		ISO	RGD:1351643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal dominant 80	PMID:25741868|PMID:28492532
8713511	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1351643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
8713511	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:0112177	Mayer-Rokitansky-Kuster-Hauser syndrome		ISO	RGD:1351643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Aplasia of the uterus	PMID:25741868
8713511	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:0112178	Mayer-Rokitansky-Kuster-Hauser syndrome type 1		ISO	RGD:1351643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Mayer Rokitansky Kuster Hauser syndrome type 1	PMID:25741868
8713511	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:1059	intellectual disability		ISO	RGD:1351643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8713511	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:1148	polydactyly		ISO	RGD:1351643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868|PMID:28492532|PMID:32378186
8713511	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:12215	oligohydramnios		ISO	RGD:1351643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anhydramnios	PMID:25741868|PMID:35005812
8713511	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:14766	renal agenesis		ISO	RGD:1351643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bilateral renal agenesis	PMID:25741868
8713511	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:5041	esophageal cancer		ISO	RGD:1351643	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713511	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713511	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:9003763	Renal Hypodysplasia/Aplasia 1		ISO	RGD:1351643	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Renal agenesis and hypodysplasia	PMID:28492532|PMID:29100090
8713511	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:9004538	Hearing Loss		ISO	RGD:1351643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8713511	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1351643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
8713511	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:9009100	Renal Hypodysplasia/Aplasia 3		ISO	RGD:1351643	D	RGD:7240710	20190315	OMIM			
8713511	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:9009100	Renal Hypodysplasia/Aplasia 3		ISO	RGD:1351643	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: GREB1L-related condition | ClinVar Annotator: match by term: RENAL HYPODYSPLASIA/APLASIA 3 | ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 3	PMID:25741868|PMID:28492532|PMID:28739660|PMID:29100090|PMID:29100091|PMID:30143558|PMID:32378186|PMID:32585897|PMID:32598191|PMID:33532864|PMID:34906515|PMID:35005812|PMID:36371238|PMID:38309594
8713511	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8713550	GPX3	glutathione peroxidase 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1343858	D	RGD:9068941	20200609	RGD			PMID:18936159|REF_RGD_ID:2312632
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:0050731	vitamin B12 deficiency	treatment	ISO	RGD:1343858	D	RGD:9068941	20230930	RGD			PMID:11115425|REF_RGD_ID:401827848
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:0050860	colorectal adenoma		ISO	RGD:1343858	D	RGD:9068941	20220407	RGD		mRNA:decreased expression:colorectum (human)	PMID:30469315|REF_RGD_ID:151665806
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:0051061	stroke		ISO	RGD:1343858	D	RGD:9068941	20230928	RGD		protein:decreased expression:plasma	PMID:10446087|REF_RGD_ID:401827831
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:0060901	lymphoplasmacytic lymphoma		ISO	RGD:1343858	D	RGD:9068941	20230928	RGD		protein:increased expression:bone marrow	PMID:32763516|REF_RGD_ID:401827827
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1343858	D	RGD:9068941	20220407	RGD		mRNA:decreased expression:colorectum (human)	PMID:30469315|REF_RGD_ID:151665806
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:0080797	nasal type extranodal NK/T-cell lymphoma	treatment	ISO	RGD:1343858	D	RGD:9068941	20220414	RGD		associated with ethmoid sinus cancer and Neoplasm Metastasis	PMID:29496492|REF_RGD_ID:151708712
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1343858	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1343858	D	RGD:9068941	20220324	RGD		protein:decreased expression:stomach (human)	PMID:22843889|REF_RGD_ID:151665483
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:10534	stomach cancer	onset	ISO	RGD:1343858	D	RGD:9068941	20220331	RGD		DNA:hypermethylation	PMID:30924352|REF_RGD_ID:151665514
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:10534	stomach cancer	susceptibility	ISO	RGD:1343858	D	RGD:9068941	20220324	RGD		DNA:SNPs:intron 1,3'utr: (rs3805435, rs3828599, rs2070593) (human)	PMID:20576521|REF_RGD_ID:151665489
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:1343858	D	RGD:9068941	20220331	RGD			PMID:30114685|REF_RGD_ID:151665512
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:10590	mild pre-eclampsia		ISO	RGD:1343858	D	RGD:9068941	20231005	RGD		protein:increased expression:plasma	PMID:8476834|REF_RGD_ID:401827852
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:10591	pre-eclampsia		ISO	RGD:1343858	D	RGD:9068941	20230928	RGD		protein:decreased expression:placenta	PMID:20303587|PMID:28705740|REF_RGD_ID:401827170|REF_RGD_ID:401827825
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:10591	pre-eclampsia		ISO	RGD:1343858	D	RGD:9068941	20230930	RGD		mRNA:decreased expression:placenta	PMID:18852388|REF_RGD_ID:401827849
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:1062	Fanconi syndrome		ISO	RGD:1343858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9851889
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:10763	hypertension		ISO	RGD:1343858	D	RGD:9068941	20230923	RGD		DNA:SNP: :rs3828599 (human)	PMID:32034489|REF_RGD_ID:401827127
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:1343858	D	RGD:9068941	20230928	RGD		DNA:SNP: : rs3828599 (human)	PMID:21933611|REF_RGD_ID:401827166
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:10763	hypertension	treatment	ISO	RGD:69224	D	RGD:9068941	20230817	RGD			PMID:23528973|REF_RGD_ID:401793732
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:11088	asphyxia neonatorum	severity	ISO	RGD:1343858	D	RGD:9068941	20230930	RGD		protein:increased expression:plasma	PMID:18279752|REF_RGD_ID:401827841
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:69224	D	RGD:9068941	20231005	RGD			PMID:28508406|REF_RGD_ID:401827908
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:11612	polycystic ovary syndrome	treatment	ISO	RGD:69224	D	RGD:9068941	20231005	RGD			PMID:35663203|REF_RGD_ID:401827905
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1343858	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:12824952|REF_RGD_ID:1625122
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1343858	D	RGD:9068941	20231005	RGD		mRNA:decreased expression:kidney	PMID:20685819|REF_RGD_ID:7205671
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:1184	nephrotic syndrome		ISO	RGD:69224	D	RGD:9068941	20231005	RGD		mRNA:decreased expression:kidney	PMID:20685819|REF_RGD_ID:7205671
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:11996	spermatic cord torsion	treatment	ISO	RGD:69224	D	RGD:9068941	20231005	RGD			PMID:24440694|REF_RGD_ID:401827921
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:12336	male infertility	treatment	ISO	RGD:69224	D	RGD:9068941	20231005	RGD			PMID:37260555|REF_RGD_ID:401827915
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1343858	D	RGD:9068941	20230923	RGD		associated with atrial fibrillation:protein:decreased expression:serum	PMID:27609361|REF_RGD_ID:401827124
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:1287	cardiovascular system disease	disease_progression	ISO	RGD:1343858	D	RGD:9068941	20230930	RGD		associated with Acute Coronary Syndrome;protein:increased expression:plasma	PMID:18941641|REF_RGD_ID:401827840
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:1287	cardiovascular system disease	severity	ISO	RGD:1343858	D	RGD:9068941	20230928	RGD		protein:decreased expression:serum	PMID:22719980|REF_RGD_ID:401827822
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:1287	cardiovascular system disease	susceptibility	ISO	RGD:1343858	D	RGD:9068941	20230923	RGD		DNA:SNP: :rs8177409 (human)	PMID:24819036|REF_RGD_ID:401827122
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1343858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15964507
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:13129	severe pre-eclampsia		ISO	RGD:1343858	D	RGD:9068941	20231005	RGD		protein:increased expression:plasma	PMID:8476834|REF_RGD_ID:401827852
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:1324	lung cancer	treatment	ISO	RGD:1343858	D	RGD:9068941	20220414	RGD			PMID:26767034|PMID:33255360|REF_RGD_ID:151708705|REF_RGD_ID:151708707
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1343858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21684681
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:69224	D	RGD:9068941	20231005	RGD			PMID:33935736|REF_RGD_ID:401827871
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:1682	congenital heart disease		ISO	RGD:1352435,RGD:732257	D	RGD:9068941	20230928	RGD		DNA:SNP: :rs8177441 (human)	PMID:26612412|REF_RGD_ID:11097065
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:69224	D	RGD:9068941	20230928	RGD			PMID:21300352|REF_RGD_ID:401827830
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:1993	rectum cancer	susceptibility	ISO	RGD:1343858	D	RGD:9068941	20220331	RGD		DNA:SNPs: (rs3828599, rs736775, rs8177447) (human)	PMID:22371331|REF_RGD_ID:151665750
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:737382	D	RGD:9068941	20220331	RGD		associated with Experimental Colitis	PMID:23221387|REF_RGD_ID:151665510
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:1343858	D	RGD:9068941	20230928	RGD			PMID:30098076|REF_RGD_ID:401827833
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:2316	brain ischemia		ISO	RGD:14121452	D	RGD:9068941	20230928	RGD		protein:increased expression:plasma	PMID:30025402|REF_RGD_ID:401827828
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:2870	endometrial adenocarcinoma		ISO	RGD:69224	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:endometrium (rat)	PMID:19426485|REF_RGD_ID:2312621
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:289	endometriosis		ISO	RGD:1343858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642|PMID:21063030
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:299	adenocarcinoma		ISO	RGD:1343858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552421
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:3021	acute kidney failure		ISO	RGD:1343858	D	RGD:9068941	20230923	RGD		protein:decreased expression:kidney	PMID:36583727|REF_RGD_ID:401827125
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:3275	thymoma		ISO	RGD:1343858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:3393	coronary artery disease		ISO	RGD:1343858	D	RGD:9068941	20230928	RGD		mRNA:increased expression:epicardial fat	PMID:21679057|REF_RGD_ID:401827169
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:3526	cerebral infarction		ISO	RGD:1343858	D	RGD:9068941	20230923	RGD		DNA, protein:SNP,decreased expression:promoter,plasma:-861A>T (human)	PMID:25126700|REF_RGD_ID:401827128
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:3526	cerebral infarction		ISO	RGD:1343858	D	RGD:9068941	20230928	RGD		DNA:SNPs, haplotype:promoter:-942 A>C, -927 T>C, -861 A>T, -302 A>T, -284 T>A, -568 T>C, -518 T>C, -65 T>C (human)	PMID:17122425|REF_RGD_ID:401827163
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:3526	cerebral infarction	susceptibility	ISO	RGD:1343858	D	RGD:9068941	20230928	RGD		DNA:SNPs, haplotypes:promoter:rs8177412, rs870407, rs870406 (human)	PMID:20946167|REF_RGD_ID:401827165
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:3565	meningioma	severity	ISO	RGD:1343858	D	RGD:9068941	20230928	RGD			PMID:19885562|REF_RGD_ID:401827824
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:3572	intracranial sinus thrombosis	no_association	ISO	RGD:1343858	D	RGD:9068941	20230928	RGD		DNA:SNPs, haplotypes:promoter:rs8177412, rs870407, rs870406 (human)	PMID:20946167|REF_RGD_ID:401827165
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:1343858	D	RGD:9068941	20220331	RGD		DNA:hypermethylation	PMID:25050929|PMID:30018730|REF_RGD_ID:151665494|REF_RGD_ID:151665741
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:3905	lung carcinoma		ISO	RGD:737382	D	RGD:9068941	20230928	RGD		protein decreased expression:heart	PMID:33693448|REF_RGD_ID:401827836
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1343858	D	RGD:9068941	20220414	RGD		mRNA:decreased expression:lung (human)	PMID:23374247|REF_RGD_ID:151708716
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:418	systemic scleroderma		ISO	RGD:1343858	D	RGD:9068941	20230923	RGD		protein:decreased expression:serum	PMID:32630589|REF_RGD_ID:401827129
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:4914	esophagus adenocarcinoma	susceptibility	ISO	RGD:1343858	D	RGD:9068941	20220630	RGD		DNA:SNPs:intron: (rs4958872, rs3792797) (human)	PMID:22715394|REF_RGD_ID:152995500
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:4948	gallbladder carcinoma	severity	ISO	RGD:1343858	D	RGD:9068941	20220331	RGD		protein:decreased expression:gallbladder (human)	PMID:24167362|REF_RGD_ID:151665515
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:5041	esophageal cancer	treatment	ISO	RGD:1343858	D	RGD:9068941	20220407	RGD		DNA:hypermethylation	PMID:33292587|REF_RGD_ID:151665781
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:62	aortic valve disease		ISO	RGD:1343858	D	RGD:9068941	20230928	RGD		mRNA:decreased expression:aortic valve	PMID:32674273|REF_RGD_ID:401827829
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:6713	cerebrovascular disease	susceptibility	ISO	RGD:1343858	D	RGD:9068941	20230928	RGD		associated with Endotoxemia; protein:decreased expression:serum	PMID:34869693|REF_RGD_ID:401827160
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1343858	D	RGD:9068941	20220331	RGD		DNA:hypermethylation	PMID:25445749|REF_RGD_ID:151665509
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1343858	D	RGD:9068941	20231005	RGD			PMID:27570561|REF_RGD_ID:401827855
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1343858	D	RGD:9068941	20220324	RGD		mRNA,protein:decreased expression:liver, blood plasma (human)	PMID:25333265|REF_RGD_ID:151665355
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:7693	abdominal aortic aneurysm	treatment	ISO	RGD:737382	D	RGD:9068941	20230928	RGD			PMID:21530968|PMID:24337353|REF_RGD_ID:401827823|REF_RGD_ID:401827834
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:7941	Barrett's adenocarcinoma		ISO	RGD:1343858	D	RGD:9068941	20220324	RGD		DNA:hypermethylation	PMID:16229808|REF_RGD_ID:151665354
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:7941	Barrett's adenocarcinoma		ISO	RGD:1343858	D	RGD:9068941	20220630	RGD		DNA:hypermethylation:promoter	PMID:18664505|REF_RGD_ID:151665749
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:850	lung disease		ISO	RGD:69224	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:pneumocyte (rat)	PMID:16049373|REF_RGD_ID:2312626
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:69224	D	RGD:9068941	20231005	RGD		protein:increased expression:cerebrospinal fluid	PMID:21559420|REF_RGD_ID:40907059
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1343858	D	RGD:9068941	20220324	RGD		associated with stomach carcinoma; DNA:hypermethylation:promoter	PMID:23071548|REF_RGD_ID:151665353
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9000111	Radiation Injuries	treatment	ISO	RGD:69224	D	RGD:9068941	20231005	RGD			PMID:20105084|REF_RGD_ID:401827914
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:1343858	D	RGD:9068941	20230930	RGD		protein:increased expression:plasma	PMID:32326289|REF_RGD_ID:401827845
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9001211	cerebral venous thrombosis		ISO	RGD:1343858	D	RGD:9068941	20230928	RGD		DNA:SNPs, haplotype:promoter:-942 A>C, -927 T>C, -861 A>T, -302 A>T, -284 T>A, -568 T>C, -518 T>C, -65 T>C (human)	PMID:18096833|REF_RGD_ID:401827161
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9001211	cerebral venous thrombosis	no_association	ISO	RGD:1343858	D	RGD:9068941	20230928	RGD		DNA:SNPs, haplotype:promoter:-942 A>C, -927 T>C, -861 A>T, -302 A>T, -284 T>A, -568 T>C, -518 T>C, -65 T>C (human)	PMID:19095977|REF_RGD_ID:401827164
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9001650	Pregnancy-Induced Hypertension		ISO	RGD:1343858	D	RGD:9068941	20231005	RGD		protein:increased expression:plasma	PMID:8244188|REF_RGD_ID:401827853
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1343858	D	RGD:9068941	20230928	RGD		mRNA, protein:increased expression:blood, plasma	PMID:28298473|REF_RGD_ID:401827171
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1343858	D	RGD:9068941	20230923	RGD		associated with systemic scleroderma;protein:decreased expression:serum	PMID:32630589|REF_RGD_ID:401827129
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1343858	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:serum (human)	PMID:17269729|REF_RGD_ID:2312635
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:69224	D	RGD:9068941	20231005	RGD		associated with Experimental Diabetes Mellitus	PMID:32592386|REF_RGD_ID:401827869
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1343858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17804715
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9002669	Hypoxia		ISO	RGD:69224	D	RGD:9068941	20231005	RGD		protein:increased expression:plasma	PMID:24842778|REF_RGD_ID:401827909
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:69224	D	RGD:9068941	20231005	RGD			PMID:22320401|REF_RGD_ID:7175513
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9003139	Cardiac Fibrosis	treatment	ISO	RGD:69224	D	RGD:9068941	20230817	RGD			PMID:23528973|REF_RGD_ID:401793732
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9003709	Mercury Poisoning		ISO	RGD:69224	D	RGD:9068941	20231005	RGD		protein:decreased activity:plasma	PMID:25975991|REF_RGD_ID:401827854
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9003817	Sudden Hearing Loss		ISO	RGD:1343858	D	RGD:9068941	20230923	RGD		DNA:SNP: :rs3805435 (human)	PMID:28738977|REF_RGD_ID:401827121
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:69224	D	RGD:9068941	20230817	RGD			PMID:23528973|REF_RGD_ID:401793732
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9004786	Carbon Tetrachloride Poisoning	treatment	ISO	RGD:69224	D	RGD:9068941	20231007	RGD			PMID:18306454|PMID:31018559|REF_RGD_ID:2312624|REF_RGD_ID:401827907
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1343858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19180532|PMID:21552421
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69224	D	RGD:9068941	20200609	RGD		protein, mRNA:decreased expression:kidney (rat)	PMID:12753302|REF_RGD_ID:2312629
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:69224	D	RGD:9068941	20231005	RGD			PMID:23407453|PMID:32546886|REF_RGD_ID:401827857|REF_RGD_ID:401827917
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:737382	D	RGD:9068941	20230923	RGD			PMID:16651743|REF_RGD_ID:2312631
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:69224	D	RGD:9068941	20230928	RGD		protein:decreased expression:kidney	PMID:37033969|REF_RGD_ID:401827821
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:69224	D	RGD:9068941	20231005	RGD		mRNA:decreased expression:kidney	PMID:22442209|REF_RGD_ID:401827906
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9006302	Binge Drinking		ISO	RGD:69224	D	RGD:9068941	20231005	RGD		protein:decreased expression:serum	PMID:25864381|REF_RGD_ID:401827870
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9006332	Vascular Calcification	treatment	ISO	RGD:69224	D	RGD:9068941	20231005	RGD		associated with obesity	PMID:24370590|REF_RGD_ID:401827910
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1343858	D	RGD:9068941	20230928	RGD		associated with coronary artery disease;DNA:SNP: :rs3828599 (human)	PMID:31396447|REF_RGD_ID:401827159
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1343858	D	RGD:9068941	20230923	RGD		protein:increased expression:serum	PMID:24819036|REF_RGD_ID:401827122
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9006709	Primary Graft Dysfunction	treatment	ISO	RGD:1343858	D	RGD:9068941	20230923	RGD			PMID:29290803|REF_RGD_ID:401827126
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9006778	Carotid Atherosclerosis		ISO	RGD:1343858	D	RGD:9068941	20230923	RGD		associated with type 2 diabetes mellitus	PMID:32862561|REF_RGD_ID:401827123
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9006956	nephrotoxicity	treatment	ISO	RGD:69224	D	RGD:9068941	20231005	RGD			PMID:22115772|PMID:23662110|PMID:27412471|REF_RGD_ID:401827919|REF_RGD_ID:401827924|REF_RGD_ID:401827925
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1343858	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1343858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20195826
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1343858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270708
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9007692	Insulin Resistance		ISO	RGD:69224	D	RGD:9068941	20231005	RGD		protein:increased expression:plasma	PMID:24361363|REF_RGD_ID:401827920
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1343858	D	RGD:9068941	20230930	RGD			PMID:11043918|REF_RGD_ID:401827843
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9008652	Postoperative Atrial Fibrillation		ISO	RGD:1343858	D	RGD:9068941	20230928	RGD		associated with coronary artery disease;protein:increased expression:plasma	PMID:32197906|REF_RGD_ID:401827167
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9206	Barrett's esophagus		ISO	RGD:1343858	D	RGD:9068941	20220630	RGD		DNA:hypermethylation:promoter	PMID:18664505|REF_RGD_ID:151665749
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9351	diabetes mellitus		ISO	RGD:737382	D	RGD:9068941	20200609	RGD			PMID:18562625|REF_RGD_ID:2312633
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9351	diabetes mellitus		ISO	RGD:737382	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:skeletal muscle (mouse)	PMID:18936159|REF_RGD_ID:2312632
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:1343858	D	RGD:9068941	20230930	RGD			PMID:24102912|REF_RGD_ID:401827847
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9408	acute myocardial infarction		ISO	RGD:1343858	D	RGD:9068941	20230928	RGD		protein:increased expression:plasma	PMID:28374671|REF_RGD_ID:401827832
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9538	multiple myeloma	disease_progression	ISO	RGD:1343858	D	RGD:9068941	20230928	RGD		DNA:hypermethylation: :	PMID:23699600|REF_RGD_ID:11073605
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1343858	D	RGD:9068941	20200609	RGD		protein:decreased activity:plasma (human)	PMID:16489975|REF_RGD_ID:2312634
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9970	obesity		ISO	RGD:1343858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11328671|PMID:19270708
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9970	obesity		ISO	RGD:69224	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:adipose tissue (rat)	PMID:19212806|REF_RGD_ID:2307430
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9970	obesity		ISO	RGD:69224	D	RGD:9068941	20231005	RGD		mRNA:decreased expression:embryo, blastocyst	PMID:21862610|REF_RGD_ID:5683906
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9970	obesity		ISO	RGD:69224	D	RGD:9068941	20231005	RGD		protein:decreased expression:plasma	PMID:21535898|REF_RGD_ID:401827923
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9970	obesity		ISO	RGD:737382	D	RGD:9068941	20200609	RGD		protein:decreased expression, activity:plasma (mouse)	PMID:18562625|REF_RGD_ID:2312633
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9970	obesity	treatment	ISO	RGD:69224	D	RGD:9068941	20231005	RGD			PMID:31791316|REF_RGD_ID:401827913
8713550	Gpx3	glutathione peroxidase 3	gene	DOID:9993	hypoglycemia		ISO	RGD:737382	D	RGD:9068941	20230923	RGD		mRNA:increased expression:retina	PMID:21738719|REF_RGD_ID:401827130
8713559	Ttc36	tetratricopeptide repeat domain 36	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2293598	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8713559	Ttc36	tetratricopeptide repeat domain 36	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2293598	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8713593	Cmas	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713593	Cmas	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:10534	stomach cancer		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713593	Cmas	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8713593	Cmas	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1322089	D	RGD:9068941	20220825	MouseDO			
8713593	Cmas	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:1324	lung cancer		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8713593	Cmas	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8713593	Cmas	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:4362	cervical cancer		ISO	RGD:1322088	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8713593	Cmas	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8713593	Cmas	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713593	Cmas	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8713605	Ebna1bp2	EBNA1 binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8713605	Ebna1bp2	EBNA1 binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1313990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8713605	Ebna1bp2	EBNA1 binding protein 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1313990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8713605	Ebna1bp2	EBNA1 binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8713605	Ebna1bp2	EBNA1 binding protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8713605	Ebna1bp2	EBNA1 binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713605	Ebna1bp2	EBNA1 binding protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8713605	Ebna1bp2	EBNA1 binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8713605	Ebna1bp2	EBNA1 binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713618	Mtfr1	mitochondrial fission regulator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8713618	Mtfr1	mitochondrial fission regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713618	Mtfr1	mitochondrial fission regulator 1	gene	DOID:1909	melanoma		ISO	RGD:1605712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8713618	Mtfr1	mitochondrial fission regulator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8713618	Mtfr1	mitochondrial fission regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713618	Mtfr1	mitochondrial fission regulator 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8713618	Mtfr1	mitochondrial fission regulator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8713618	Mtfr1	mitochondrial fission regulator 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8713631	Tspan15	tetraspanin 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8713631	Tspan15	tetraspanin 15	gene	DOID:10534	stomach cancer		ISO	RGD:1351907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713631	Tspan15	tetraspanin 15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8713631	Tspan15	tetraspanin 15	gene	DOID:1115	sarcoma		ISO	RGD:1351907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8713631	Tspan15	tetraspanin 15	gene	DOID:3070	high grade glioma		ISO	RGD:1351907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8713631	Tspan15	tetraspanin 15	gene	DOID:4362	cervical cancer		ISO	RGD:1351907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8713631	Tspan15	tetraspanin 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713631	Tspan15	tetraspanin 15	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8713631	Tspan15	tetraspanin 15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8713631	Tspan15	tetraspanin 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713631	Tspan15	tetraspanin 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8713648	Plk1	polo like kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8713648	Plk1	polo like kinase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1353801	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8713648	Plk1	polo like kinase 1	gene	DOID:0111866	trichothiodystrophy		ISO	RGD:1353801	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Trichothiodystrophy	PMID:25741868
8713648	Plk1	polo like kinase 1	gene	DOID:10286	prostate carcinoma		ISO	RGD:1353801	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:prostate gland	PMID:15948124|REF_RGD_ID:2299939
8713648	Plk1	polo like kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713648	Plk1	polo like kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8713648	Plk1	polo like kinase 1	gene	DOID:11054	urinary bladder cancer	severity	ISO	RGD:1353801	D	RGD:9068941	20200609	RGD			PMID:16837776|REF_RGD_ID:2299938
8713648	Plk1	polo like kinase 1	gene	DOID:1240	leukemia		ISO	RGD:1353801	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26008977
8713648	Plk1	polo like kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1353801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8713648	Plk1	polo like kinase 1	gene	DOID:1909	melanoma		ISO	RGD:1353801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8713648	Plk1	polo like kinase 1	gene	DOID:2152	ovary epithelial cancer	disease_progression	ISO	RGD:1353801	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:14970859|REF_RGD_ID:2299941
8713648	Plk1	polo like kinase 1	gene	DOID:289	endometriosis		ISO	RGD:1353801	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression	PMID:18353325|REF_RGD_ID:2299937
8713648	Plk1	polo like kinase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1353801	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22000864
8713648	Plk1	polo like kinase 1	gene	DOID:3459	breast carcinoma	severity	ISO	RGD:1353801	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:15785925|REF_RGD_ID:2299942
8713648	Plk1	polo like kinase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8713648	Plk1	polo like kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353801	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713648	Plk1	polo like kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713648	Plk1	polo like kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353801	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8713648	Plk1	polo like kinase 1	gene	DOID:9007479	Habitual Abortions		ISO	RGD:1353801	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Recurrent spontaneous abortion	
8713648	Plk1	polo like kinase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1353801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8713666	Gjb7	gap junction protein beta 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713666	Gjb7	gap junction protein beta 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8713676	Apex2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8713676	Apex2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:1115	sarcoma		ISO	RGD:1350631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8713676	Apex2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:1324	lung cancer		ISO	RGD:1350631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8713676	Apex2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:1909	melanoma		ISO	RGD:1350631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8713676	Apex2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350631	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713676	Apex2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713676	Apex2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713691	Mybl2	MYB proto-oncogene like 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1318264	D	RGD:9068941	20220825	MouseDO		OMIM:614286	
8713691	Mybl2	MYB proto-oncogene like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713691	Mybl2	MYB proto-oncogene like 2	gene	DOID:0080600	COVID-19		ISO	RGD:1318263	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8713691	Mybl2	MYB proto-oncogene like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713691	Mybl2	MYB proto-oncogene like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8713691	Mybl2	MYB proto-oncogene like 2	gene	DOID:1324	lung cancer		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8713691	Mybl2	MYB proto-oncogene like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8713691	Mybl2	MYB proto-oncogene like 2	gene	DOID:3275	thymoma		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8713691	Mybl2	MYB proto-oncogene like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8713691	Mybl2	MYB proto-oncogene like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318263	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713691	Mybl2	MYB proto-oncogene like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713691	Mybl2	MYB proto-oncogene like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8713691	Mybl2	MYB proto-oncogene like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318263	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8713691	Mybl2	MYB proto-oncogene like 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8713691	Mybl2	MYB proto-oncogene like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713691	Mybl2	MYB proto-oncogene like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8713691	Mybl2	MYB proto-oncogene like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8713732	Calu	calumenin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8713732	Calu	calumenin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713732	Calu	calumenin	gene	DOID:0060224	atrial fibrillation		ISO	RGD:733017	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
8713732	Calu	calumenin	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:733017	D	RGD:9068941	20200609	RGD		mRNA:increased expression:colon (human)	PMID:18776587|REF_RGD_ID:2316232
8713732	Calu	calumenin	gene	DOID:10534	stomach cancer		ISO	RGD:733017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713732	Calu	calumenin	gene	DOID:1115	sarcoma		ISO	RGD:733017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8713732	Calu	calumenin	gene	DOID:13207	proliferative diabetic retinopathy		ISO	RGD:733017	D	RGD:9068941	20231102	RGD		mRNA:increased expression:retina (human)	PMID:35692390|REF_RGD_ID:401851065
8713732	Calu	calumenin	gene	DOID:1909	melanoma		ISO	RGD:733017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8713732	Calu	calumenin	gene	DOID:3275	thymoma		ISO	RGD:733017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8713732	Calu	calumenin	gene	DOID:4362	cervical cancer		ISO	RGD:733017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8713732	Calu	calumenin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713732	Calu	calumenin	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:733017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8713732	Calu	calumenin	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:733017	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15048980
8713732	Calu	calumenin	gene	DOID:9008582	Developmental Disease		ISO	RGD:733017	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8713732	Calu	calumenin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8713747	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713747	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:10534	stomach cancer		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713747	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8713747	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:1115	sarcoma		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8713747	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:1793	pancreatic cancer		ISO	RGD:1322154	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26098869
8713747	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:1909	melanoma		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8713747	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:3275	thymoma		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8713747	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:4362	cervical cancer		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8713747	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:5041	esophageal cancer		ISO	RGD:1322154	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713747	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8713747	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713747	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8713747	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713747	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8713747	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8713765	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713765	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713765	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8713765	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1313107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8713765	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1313107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8713765	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1313107	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
8713765	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8713765	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8713765	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313107	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713765	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713765	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313107	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8713765	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313107	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8713765	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8713781	Irx3	iroquois homeobox 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713781	Irx3	iroquois homeobox 3	gene	DOID:1324	lung cancer		ISO	RGD:1316613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8713781	Irx3	iroquois homeobox 3	gene	DOID:3275	thymoma		ISO	RGD:1316613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8713781	Irx3	iroquois homeobox 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316613	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713781	Irx3	iroquois homeobox 3	gene	DOID:850	lung disease		ISO	RGD:1316613	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21238641
8713802	Prdx1	peroxiredoxin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8713802	Prdx1	peroxiredoxin 1	gene	DOID:0050715	methylmalonic aciduria and homocystinuria type cblC		ISO	RGD:733744	D	RGD:7240710	20190315	OMIM			
8713802	Prdx1	peroxiredoxin 1	gene	DOID:0050715	methylmalonic aciduria and homocystinuria type cblC		ISO	RGD:733744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PRDX1-related condition	PMID:28492532
8713802	Prdx1	peroxiredoxin 1	gene	DOID:0060058	lymphoma		ISO	RGD:733744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8713802	Prdx1	peroxiredoxin 1	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:733744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15986332
8713802	Prdx1	peroxiredoxin 1	gene	DOID:0080600	COVID-19		ISO	RGD:733744	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8713802	Prdx1	peroxiredoxin 1	gene	DOID:10320	asbestosis		ISO	RGD:733744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22537621
8713802	Prdx1	peroxiredoxin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8713802	Prdx1	peroxiredoxin 1	gene	DOID:1395	schistosomiasis		ISO	RGD:733744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19041905
8713802	Prdx1	peroxiredoxin 1	gene	DOID:2394	ovarian cancer		ISO	RGD:733744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8713802	Prdx1	peroxiredoxin 1	gene	DOID:3070	high grade glioma		ISO	RGD:733744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8713802	Prdx1	peroxiredoxin 1	gene	DOID:3275	thymoma		ISO	RGD:733744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8713802	Prdx1	peroxiredoxin 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:733744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
8713802	Prdx1	peroxiredoxin 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:733744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17094902
8713802	Prdx1	peroxiredoxin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8713802	Prdx1	peroxiredoxin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733744	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713802	Prdx1	peroxiredoxin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8713802	Prdx1	peroxiredoxin 1	gene	DOID:630	genetic disease		ISO	RGD:733744	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8713802	Prdx1	peroxiredoxin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8713802	Prdx1	peroxiredoxin 1	gene	DOID:9000058	Keloid		ISO	RGD:733744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
8713802	Prdx1	peroxiredoxin 1	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:733744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15986332
8713802	Prdx1	peroxiredoxin 1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:733744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27517622
8713802	Prdx1	peroxiredoxin 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:733744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22537621
8713802	Prdx1	peroxiredoxin 1	gene	DOID:9005614	Methylmalonic Aciduria and Homocystinuria		ISO	RGD:733744	D	RGD:9068941	20260416	CTD		CTD Direct Evidence: marker/mechanism	
8713802	Prdx1	peroxiredoxin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713810	Dcx	doublecortin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8713810	Dcx	doublecortin	gene	DOID:0050453	lissencephaly		ISO	RGD:1348637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Pachygyria | ClinVar Annotator: match by term: lissencephaly	PMID:11175293|PMID:11468322|PMID:14550532|PMID:18414213|PMID:18685874|PMID:19416314|PMID:23365099|PMID:25741868|PMID:28492532|PMID:29671837|PMID:9618162
8713810	Dcx	doublecortin	gene	DOID:0050562	West syndrome		ISO	RGD:1348637	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypsarrhythmia	PMID:11175293|PMID:25741868|PMID:28492532|PMID:31069529|PMID:32570172|PMID:34145886|PMID:9618162
8713810	Dcx	doublecortin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713810	Dcx	doublecortin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1348637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:10369164|PMID:11175293|PMID:12552055|PMID:23365099|PMID:25741868|PMID:25868952|PMID:28492532
8713810	Dcx	doublecortin	gene	DOID:0111169	subcortical band heterotopia		ISO	RGD:1348637	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Subcortical band heterotopia	PMID:10915612|PMID:11071144|PMID:11175293|PMID:17111359|PMID:18414213|PMID:23365099|PMID:25140959|PMID:25741868|PMID:25817838|PMID:28492532|PMID:28953922|PMID:31069529|PMID:32238909|PMID:32570172|PMID:34145886|PMID:9618162|PMID:9989615
8713810	Dcx	doublecortin	gene	DOID:0112237	lissencephaly 1		ISO	RGD:1348637	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Subcortical band heterotopia	PMID:10915612|PMID:11071144|PMID:11175293|PMID:17111359|PMID:18414213|PMID:23365099|PMID:25140959|PMID:25741868|PMID:25817838|PMID:28492532|PMID:28953922|PMID:31069529|PMID:32238909|PMID:32570172|PMID:34145886|PMID:9618162|PMID:9989615
8713810	Dcx	doublecortin	gene	DOID:0112239	X-linked lissencephaly 1		ISO	RGD:1348637	D	RGD:7240710	20210331	OMIM			
8713810	Dcx	doublecortin	gene	DOID:0112239	X-linked lissencephaly 1		ISO	RGD:1348637	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DCX-related condition | ClinVar Annotator: match by term: DCX-related disorder | ClinVar Annotator: match by term: LISSENCEPHALY, X-LINKED, 1 | ClinVar Annotator: match by term: Lissencephaly type 1 due to doublecortin gene mutation	PMID:10369164|PMID:10749977|PMID:11071144|PMID:11175293|PMID:11331616|PMID:11468322|PMID:12390976|PMID:12552055|PMID:12838518|PMID:14550532|PMID:17111359|PMID:18414213|PMID:18685874|PMID:19416314|PMID:22727374|PMID:22857951|PMID:23365099|PMID:25741868|PMID:25817838|PMID:25868952|PMID:28492532|PMID:28953922|PMID:29671837|PMID:29706646|PMID:30979500|PMID:31069529|PMID:31589614|PMID:32238909|PMID:32570172|PMID:34145886|PMID:35213059|PMID:36801247|PMID:39626666|PMID:9489699|PMID:9489700|PMID:9618162|PMID:9989615
8713810	Dcx	doublecortin	gene	DOID:1059	intellectual disability		ISO	RGD:1348637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:11175293|PMID:11468322|PMID:17111359|PMID:18414213|PMID:18685874|PMID:23365099|PMID:25741868|PMID:25817838|PMID:28492532|PMID:28953922|PMID:29671837|PMID:9989615
8713810	Dcx	doublecortin	gene	DOID:10907	microcephaly		ISO	RGD:1348637	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:11071144|PMID:11175293|PMID:17111359|PMID:18414213|PMID:23365099|PMID:25741868|PMID:25817838|PMID:28492532|PMID:28953922|PMID:31069529|PMID:32238909|PMID:32570172|PMID:34145886|PMID:9618162|PMID:9989615
8713810	Dcx	doublecortin	gene	DOID:10908	hydrocephalus		ISO	RGD:1348637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:11175293|PMID:17111359|PMID:18414213|PMID:23365099|PMID:25741868|PMID:25817838|PMID:28492532|PMID:28953922|PMID:9989615
8713810	Dcx	doublecortin	gene	DOID:14500	fucosidosis		ISO	RGD:1348637	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fucosidosis	PMID:25741868
8713810	Dcx	doublecortin	gene	DOID:1459	hypothyroidism		ISO	RGD:620670	D	RGD:9068941	20200609	RGD		protein:altered expression:cerebellum	PMID:22595232|REF_RGD_ID:12904757
8713810	Dcx	doublecortin	gene	DOID:1574	alcohol use disorder		ISO	RGD:620670	D	RGD:9068941	20231221	RGD		mRNA:decreased expression:hippocampus (rat)	PMID:30277635|REF_RGD_ID:401938665
8713810	Dcx	doublecortin	gene	DOID:1824	status epilepticus		ISO	RGD:1348637	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:11071144|PMID:11175293|PMID:25741868|PMID:28492532|PMID:31069529|PMID:32238909|PMID:32570172|PMID:34145886|PMID:9618162
8713810	Dcx	doublecortin	gene	DOID:1826	epilepsy		ISO	RGD:1348637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:11175293|PMID:17111359|PMID:18414213|PMID:23365099|PMID:25326635|PMID:25741868|PMID:25817838|PMID:28492532|PMID:28953922|PMID:9989615
8713810	Dcx	doublecortin	gene	DOID:1826	epilepsy		ISO	RGD:1348637	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:11175293|PMID:17111359|PMID:18414213|PMID:23365099|PMID:25741868|PMID:25817838|PMID:28492532|PMID:28953922|PMID:9989615
8713810	Dcx	doublecortin	gene	DOID:1826	epilepsy	onset	ISO	RGD:620670	D	RGD:9068941	20241114	RGD		associated with Subcortical Band Heterotopia, X-Linked	PMID:20164125|REF_RGD_ID:12904732
8713810	Dcx	doublecortin	gene	DOID:1827	generalized epilepsy		ISO	RGD:1348637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:11071144|PMID:25741868|PMID:32238909
8713810	Dcx	doublecortin	gene	DOID:2234	focal epilepsy		ISO	RGD:1348637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:11468322|PMID:18414213|PMID:18685874|PMID:25741868|PMID:28492532
8713810	Dcx	doublecortin	gene	DOID:3070	high grade glioma		ISO	RGD:731627	D	RGD:9068941	20200609	RGD			PMID:17178868|REF_RGD_ID:12904748
8713810	Dcx	doublecortin	gene	DOID:3070	high grade glioma	disease_progression	ISO	RGD:1348637	D	RGD:9068941	20200609	RGD			PMID:21477071|REF_RGD_ID:12904761
8713810	Dcx	doublecortin	gene	DOID:3070	high grade glioma	treatment	ISO	RGD:731627	D	RGD:9068941	20200609	RGD			PMID:19681167|REF_RGD_ID:12904754
8713810	Dcx	doublecortin	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:1348637	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus	PMID:20888264|REF_RGD_ID:12904713
8713810	Dcx	doublecortin	gene	DOID:3454	brain infarction		ISO	RGD:620670	D	RGD:9068941	20221027	RGD		protein:altered expression:brain (rat)	PMID:12161747|REF_RGD_ID:155630606
8713810	Dcx	doublecortin	gene	DOID:630	genetic disease		ISO	RGD:1348637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10369164|PMID:11071144|PMID:11175293|PMID:11468322|PMID:12552055|PMID:14550532|PMID:18414213|PMID:18685874|PMID:19416314|PMID:23365099|PMID:25741868|PMID:25868952|PMID:28492532|PMID:32238909|PMID:35213059|PMID:9618162
8713810	Dcx	doublecortin	gene	DOID:9001150	neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies		ISO	RGD:1348637	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Abnormality of the cerebrum	PMID:11175293|PMID:11468322|PMID:18414213|PMID:18685874|PMID:23365099|PMID:25741868|PMID:28492532|PMID:35213059
8713810	Dcx	doublecortin	gene	DOID:9001379	Lissencephaly and Agenesis of Corpus Callosum		ISO	RGD:1348637	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LISSENCEPHALY AND AGENESIS OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Lissencephaly and agenesis of corpus callosum | ClinVar Annotator: match by term: SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED | ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked	PMID:10369164|PMID:10441340|PMID:10749977|PMID:11175293|PMID:11331616|PMID:11468322|PMID:12390976|PMID:12552055|PMID:12838518|PMID:14550532|PMID:17111359|PMID:18414213|PMID:18685874|PMID:19416314|PMID:22727374|PMID:22857951|PMID:23365099|PMID:25741868|PMID:25817838|PMID:25868952|PMID:28492532|PMID:28953922|PMID:29671837|PMID:30979500|PMID:31069529|PMID:32570172|PMID:34145886|PMID:35213059|PMID:39626666|PMID:9489699|PMID:9489700|PMID:9618162|PMID:9989615
8713810	Dcx	doublecortin	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:620670	D	RGD:9068941	20200609	RGD		protein:increased expression:dentate gyrus	PMID:24144742|REF_RGD_ID:12904766
8713810	Dcx	doublecortin	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348637	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:18414213|PMID:25741868|PMID:9489700
8713810	Dcx	doublecortin	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:18414213|PMID:25741868
8713810	Dcx	doublecortin	gene	DOID:9004866	Ataxia		ISO	RGD:1348637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:11071144|PMID:25741868|PMID:32238909
8713810	Dcx	doublecortin	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1348637	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myoclonic seizure	PMID:11175293|PMID:25741868|PMID:28492532|PMID:31069529|PMID:32570172|PMID:34145886|PMID:9618162
8713810	Dcx	doublecortin	gene	DOID:9005501	Abnormal Cortical Gyration		ISO	RGD:1348637	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Abnormal cortical gyration	PMID:11175293|PMID:18414213|PMID:23365099|PMID:28492532
8713810	Dcx	doublecortin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348637	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:10369164|PMID:11071144|PMID:11175293|PMID:12552055|PMID:23365099|PMID:25741868|PMID:25868952|PMID:28492532|PMID:31069529|PMID:32238909|PMID:32570172|PMID:34145886|PMID:9618162
8713810	Dcx	doublecortin	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1348637	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8713810	Dcx	doublecortin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713810	Dcx	doublecortin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10369164|PMID:11175293|PMID:12552055|PMID:17111359|PMID:18414213|PMID:23365099|PMID:25741868|PMID:25817838|PMID:25868952|PMID:28492532|PMID:28953922|PMID:9989615
8713810	Dcx	doublecortin	gene	DOID:9008500	Classical Lissencephalies and Subcortical Band Heterotopias		ISO	RGD:1348637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lissencephaly, X-linked	PMID:10369164|PMID:11175293|PMID:18414213|PMID:23365099|PMID:25741868|PMID:28492532|PMID:29671837|PMID:9618162
8713810	Dcx	doublecortin	gene	DOID:9008552	Subcortical Band Heterotopia, X-Linked		ISO	RGD:1348637	D	RGD:9068941	20200609	RGD		DNA:deletions	PMID:19050731|REF_RGD_ID:12904718
8713810	Dcx	doublecortin	gene	DOID:9008552	Subcortical Band Heterotopia, X-Linked		ISO	RGD:1348637	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation: :p.R186C (971C>T) (human)	PMID:9618162|REF_RGD_ID:12904762
8713810	Dcx	doublecortin	gene	DOID:9008552	Subcortical Band Heterotopia, X-Linked		ISO	RGD:620670	D	RGD:9068941	20200609	RGD			PMID:19098909|REF_RGD_ID:12904725
8713810	Dcx	doublecortin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8713810	Dcx	doublecortin	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1348637	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:11175293|PMID:25741868|PMID:28492532|PMID:31069529|PMID:32570172|PMID:34145886|PMID:9618162
8713810	Dcx	doublecortin	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1348637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:11175293|PMID:17111359|PMID:18414213|PMID:23365099|PMID:25741868|PMID:25817838|PMID:28492532|PMID:28953922|PMID:9989615
8713810	Dcx	doublecortin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:620670	D	RGD:9068941	20200609	RGD		protein:decreased expression:dentate gyrus	PMID:18982449|REF_RGD_ID:12904763
8713835	Mamstr	MEF2 activating motif and SAP domain containing transcriptional regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713835	Mamstr	MEF2 activating motif and SAP domain containing transcriptional regulator	gene	DOID:1115	sarcoma		ISO	RGD:1604486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8713835	Mamstr	MEF2 activating motif and SAP domain containing transcriptional regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1604486	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713835	Mamstr	MEF2 activating motif and SAP domain containing transcriptional regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713835	Mamstr	MEF2 activating motif and SAP domain containing transcriptional regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713851	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
8713851	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:0051048	congenital disorder of glycosylation type IIr		ISO	RGD:1346001	D	RGD:7240710	20200429	OMIM			
8713851	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:0051048	congenital disorder of glycosylation type IIr		ISO	RGD:1346001	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: CDG IIr | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIr	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29127204
8713851	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:0060806	syndromic X-linked intellectual disability Hedera type		ISO	RGD:1346001	D	RGD:7240710	20180130	OMIM			
8713851	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:0060806	syndromic X-linked intellectual disability Hedera type		ISO	RGD:1346001	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HEDERA TYPE | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type	PMID:15746149|PMID:17576681|PMID:25741868|PMID:26467025|PMID:26467484|PMID:28492532|PMID:9536098
8713851	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:0112105	X-linked parkinsonism-spasticity syndrome		ISO	RGD:1346001	D	RGD:7240710	20180130	OMIM			
8713851	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:0112105	X-linked parkinsonism-spasticity syndrome		ISO	RGD:1346001	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Parkinsonism with spasticity, X-linked | ClinVar Annotator: match by term: X-linked parkinsonism-spasticity syndrome	PMID:25741868|PMID:26467025|PMID:28492532
8713851	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:10763	hypertension		ISO	RGD:1561269	D	RGD:9068941	20200609	RGD			PMID:21321306|REF_RGD_ID:5132599
8713851	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1346001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8713851	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:1909	melanoma		ISO	RGD:1346001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8713851	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8713851	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713851	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:630	genetic disease		ISO	RGD:1346001	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8713851	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:9000784	Fibrosis		ISO	RGD:1346001	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21795644
8713851	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:9001234	Prenatal Exposure Delayed Effects	treatment	ISO	RGD:1561269	D	RGD:9068941	20230817	RGD		associated with maternal adenine induced chronic kidney disease	PMID:32604820|REF_RGD_ID:401793718
8713851	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713851	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1346001	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16759393
8713864	Zfp62	ZFP62 zinc finger protein	gene	DOID:1324	lung cancer		ISO	RGD:1353379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8713883	Tnpo3	transportin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713883	Tnpo3	transportin 3	gene	DOID:0110304	autosomal dominant limb-girdle muscular dystrophy type 2		ISO	RGD:1318997	D	RGD:7240710	20180130	OMIM			
8713883	Tnpo3	transportin 3	gene	DOID:0110304	autosomal dominant limb-girdle muscular dystrophy type 2		ISO	RGD:1318997	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1F	PMID:16199547|PMID:17576681|PMID:23543484|PMID:23667635|PMID:25741868|PMID:28492532|PMID:30567601|PMID:31071488|PMID:31217819|PMID:31674007|PMID:33057194|PMID:9536098
8713883	Tnpo3	transportin 3	gene	DOID:1115	sarcoma		ISO	RGD:1318997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8713883	Tnpo3	transportin 3	gene	DOID:1324	lung cancer		ISO	RGD:1318997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8713883	Tnpo3	transportin 3	gene	DOID:1909	melanoma		ISO	RGD:1318997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8713883	Tnpo3	transportin 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8713883	Tnpo3	transportin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1318997	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713883	Tnpo3	transportin 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8713883	Tnpo3	transportin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713883	Tnpo3	transportin 3	gene	DOID:630	genetic disease		ISO	RGD:1318997	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8713883	Tnpo3	transportin 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8713883	Tnpo3	transportin 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8713916	Trafd1	TRAF-type zinc finger domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713916	Trafd1	TRAF-type zinc finger domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1605702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8713916	Trafd1	TRAF-type zinc finger domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8713916	Trafd1	TRAF-type zinc finger domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8713916	Trafd1	TRAF-type zinc finger domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605702	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713916	Trafd1	TRAF-type zinc finger domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713916	Trafd1	TRAF-type zinc finger domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8713916	Trafd1	TRAF-type zinc finger domain containing 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1605702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8713916	Trafd1	TRAF-type zinc finger domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713916	Trafd1	TRAF-type zinc finger domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8713930	Ulk3	unc-51 like kinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8713930	Ulk3	unc-51 like kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713930	Ulk3	unc-51 like kinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1349871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713930	Ulk3	unc-51 like kinase 3	gene	DOID:1115	sarcoma		ISO	RGD:1349871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8713930	Ulk3	unc-51 like kinase 3	gene	DOID:1324	lung cancer		ISO	RGD:1349871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8713930	Ulk3	unc-51 like kinase 3	gene	DOID:3275	thymoma		ISO	RGD:1349871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8713930	Ulk3	unc-51 like kinase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8713930	Ulk3	unc-51 like kinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1349871	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8713930	Ulk3	unc-51 like kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713930	Ulk3	unc-51 like kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713930	Ulk3	unc-51 like kinase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8713930	Ulk3	unc-51 like kinase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8713930	Ulk3	unc-51 like kinase 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1349871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8713968	Draxin	dorsal inhibitory axon guidance protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8713968	Draxin	dorsal inhibitory axon guidance protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713968	Draxin	dorsal inhibitory axon guidance protein	gene	DOID:0080600	COVID-19		ISO	RGD:1605526	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8713968	Draxin	dorsal inhibitory axon guidance protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8713968	Draxin	dorsal inhibitory axon guidance protein	gene	DOID:14330	Parkinson's disease		ISO	RGD:1605526	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25475535
8713968	Draxin	dorsal inhibitory axon guidance protein	gene	DOID:3070	high grade glioma		ISO	RGD:1605526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8713968	Draxin	dorsal inhibitory axon guidance protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713968	Draxin	dorsal inhibitory axon guidance protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713968	Draxin	dorsal inhibitory axon guidance protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8713977	Tmem97	transmembrane protein 97	gene	DOID:10534	stomach cancer		ISO	RGD:1607046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713977	Tmem97	transmembrane protein 97	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8713977	Tmem97	transmembrane protein 97	gene	DOID:1909	melanoma		ISO	RGD:1607046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8713977	Tmem97	transmembrane protein 97	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8713977	Tmem97	transmembrane protein 97	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713984	Med6	mediator complex subunit 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713984	Med6	mediator complex subunit 6	gene	DOID:1115	sarcoma		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8713984	Med6	mediator complex subunit 6	gene	DOID:1324	lung cancer		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8713984	Med6	mediator complex subunit 6	gene	DOID:3070	high grade glioma		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8713984	Med6	mediator complex subunit 6	gene	DOID:3275	thymoma		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8713984	Med6	mediator complex subunit 6	gene	DOID:4362	cervical cancer		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8713984	Med6	mediator complex subunit 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8713984	Med6	mediator complex subunit 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8713984	Med6	mediator complex subunit 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8713984	Med6	mediator complex subunit 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:0050741	alcohol dependence		ISO	RGD:3697	D	RGD:9068941	20250510	RGD		protein:decreased expression:shell of nucleus accumbens (rat)	PMID:33075417|REF_RGD_ID:598973840
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:0050741	alcohol dependence		ISO	RGD:3697	D	RGD:9068941	20250522	RGD		associated with nicotine dependence; protein:decreased expression:nucleus accumbens (rat)	PMID:29753887|REF_RGD_ID:616363027
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:0050741	alcohol dependence	treatment	ISO	RGD:3697	D	RGD:9068941	20250424	RGD		associated with nicotine dependence	PMID:27060486|REF_RGD_ID:598108052
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:0050741	alcohol dependence	treatment	ISO	RGD:3697	D	RGD:9068941	20250529	RGD			PMID:23518814|PMID:23893122|PMID:24535561|PMID:25400560|PMID:25813713|PMID:26002627|PMID:26168897|PMID:26790351|PMID:27199635|PMID:27993695|PMID:36153003|REF_RGD_ID:598136399|REF_RGD_ID:598136402|REF_RGD_ID:598147066|REF_RGD_ID:598147069|REF_RGD_ID:598147077|REF_RGD_ID:598148181|REF_RGD_ID:598150065|REF_RGD_ID:598150306|REF_RGD_ID:598154609|REF_RGD_ID:598276809|REF_RGD_ID:616363034
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:0050742	nicotine dependence		ISO	RGD:3697	D	RGD:9068941	20250522	RGD		protein:decreased expression:nucleus accumbens (rat)	PMID:29753887|REF_RGD_ID:616363027
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:0050742	nicotine dependence		ISO	RGD:736773	D	RGD:9068941	20250501	RGD		mRNA,protein:decreased expression: brain, striatum (mouse)	PMID:33242460|REF_RGD_ID:598154614
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:0050742	nicotine dependence	treatment	ISO	RGD:3697	D	RGD:9068941	20250424	RGD			PMID:27060486|REF_RGD_ID:598108052
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:0080442	developmental and epileptic encephalopathy 41		ISO	RGD:732300	D	RGD:7240710	20190315	OMIM			
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:0080442	developmental and epileptic encephalopathy 41		ISO	RGD:732300	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 41 | ClinVar Annotator: match by term: SLC1A2-related condition	PMID:23107647|PMID:24214974|PMID:25741868|PMID:27476654|PMID:28492532|PMID:28777935|PMID:30937933|PMID:31164858|PMID:31618753|PMID:34961934|PMID:36543780
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:10534	stomach cancer		ISO	RGD:732300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:3697	D	RGD:9068941	20250313	RGD			PMID:38078339|REF_RGD_ID:597830179
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:11206	opioid abuse	treatment	ISO	RGD:3697	D	RGD:9068941	20250426	RGD			PMID:36470419|REF_RGD_ID:598147056
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:12858	Huntington's disease		ISO	RGD:732300	D	RGD:9068941	20200609	RGD			PMID:9100675|REF_RGD_ID:13432194
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:12858	Huntington's disease		ISO	RGD:736773	D	RGD:9068941	20200609	RGD			PMID:17409241|REF_RGD_ID:13432195
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:3697	D	RGD:9068941	20250220	RGD			PMID:32664441|REF_RGD_ID:597805903
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:1742	drug psychosis	susceptibility	ISO	RGD:732300	D	RGD:9068941	20250529	RGD		associated with amphetamine abuse; DNA:SNP: (rs4755404) (human)	PMID:36836504|REF_RGD_ID:616363036
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:1826	epilepsy		ISO	RGD:732300	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19853022
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:732300	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11723166
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:732300	D	RGD:9068941	20200609	RGD		mRNA:processing errors:spinal cord, motor cortex (human)	PMID:9539131|REF_RGD_ID:1302517
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:3697	D	RGD:9068941	20230902	RGD			PMID:20423712|REF_RGD_ID:401794585
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:630	genetic disease		ISO	RGD:732300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:732300	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21471434
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:732300	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22645130
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:9005111	morphine withdrawal syndrome	treatment	ISO	RGD:3697	D	RGD:9068941	20250529	RGD			PMID:14750980|REF_RGD_ID:616363139
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:732300	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19625514
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732300	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732300	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30718926
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:9975	cocaine dependence		ISO	RGD:3697	D	RGD:9068941	20250501	RGD			PMID:23985782|REF_RGD_ID:598150314
8713997	Slc1a2	solute carrier family 1 member 2	gene	DOID:9975	cocaine dependence	treatment	ISO	RGD:3697	D	RGD:9068941	20250515	RGD			PMID:31100299|REF_RGD_ID:598150313
8714015	LOC102009633	chromosome unknown open reading frame, human C17orf62	gene	DOID:0070368	autosomal recessive chronic granulomatous disease 5		ISO	RGD:1606782	D	RGD:7240710	20200722	OMIM			
8714015	LOC102009633	chromosome unknown open reading frame, human C17orf62	gene	DOID:0070368	autosomal recessive chronic granulomatous disease 5		ISO	RGD:1606782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 | ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, 5	PMID:17576681|PMID:25741868|PMID:28492532|PMID:28600779|PMID:30312704|PMID:9536098
8714015	LOC102009633	chromosome unknown open reading frame, human C17orf62	gene	DOID:1324	lung cancer		ISO	RGD:1606782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8714015	LOC102009633	chromosome unknown open reading frame, human C17orf62	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714015	LOC102009633	chromosome unknown open reading frame, human C17orf62	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1344181	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:30311386|PMID:33326993|PMID:34652575
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:10283	prostate cancer		ISO	RGD:1344181	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate (human)	PMID:20166126|REF_RGD_ID:5688351
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:10534	stomach cancer		ISO	RGD:1344181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:1115	sarcoma		ISO	RGD:1344181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:1240	leukemia		ISO	RGD:1344181	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19365708|PMID:19433130
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:1324	lung cancer		ISO	RGD:1344181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:1612	breast cancer		ISO	RGD:620109	D	RGD:9068941	20200609	RGD			PMID:20051871|REF_RGD_ID:5688283
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1344181	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20852035
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:1909	melanoma		ISO	RGD:1344181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:299	adenocarcinoma		ISO	RGD:1344181	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20852035
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1344181	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24680642
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:3275	thymoma		ISO	RGD:1344181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:3459	breast carcinoma	severity	ISO	RGD:1344181	D	RGD:9068941	20200609	RGD		protein:increased expression:breast (human)	PMID:12725419|REF_RGD_ID:2289908
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1344181	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20852035
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1344181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:4362	cervical cancer		ISO	RGD:1344181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1344181	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1344181	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11927493|PMID:12237244
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:9004389	Bone Neoplasms		ISO	RGD:1344181	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24134957
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1344181	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20332317
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8714037	Ncoa3	nuclear receptor coactivator 3	gene	DOID:9970	obesity		ISO	RGD:1344181	D	RGD:9068941	20200609	RGD		DNA:polymorphism:CDS:C-terminus polyglutamine repeat, combination of long polyglutamine repeat in NCOA3 and homozygous A1/A1 Progesterone Receptor genotype associated with obesity in 301 postmenopausal women with breast cancer	PMID:14557830|REF_RGD_ID:1642050
8714095	Ebpl	EBP like	gene	DOID:1909	melanoma		ISO	RGD:1312086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8714095	Ebpl	EBP like	gene	DOID:4362	cervical cancer		ISO	RGD:1312086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8714095	Ebpl	EBP like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8714095	Ebpl	EBP like	gene	DOID:5041	esophageal cancer		ISO	RGD:1312086	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8714095	Ebpl	EBP like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714095	Ebpl	EBP like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8714102	Spata33	spermatogenesis associated 33	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8714102	Spata33	spermatogenesis associated 33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714112	Mosmo	modulator of smoothened	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2302534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8714112	Mosmo	modulator of smoothened	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2302534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8714168	Kbtbd4	kelch repeat and BTB domain containing 4	gene	DOID:0080706	medulloblastoma non-WNT/non-SHH		ISO	RGD:1321017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH	PMID:27993330|PMID:28726821|PMID:33172502|PMID:35379950|PMID:35489737
8714168	Kbtbd4	kelch repeat and BTB domain containing 4	gene	DOID:0080707	medulloblastoma non-WNT/non-SHH group 3		ISO	RGD:1321017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 3	PMID:27993330|PMID:28726821|PMID:33172502|PMID:35379950|PMID:35489737
8714168	Kbtbd4	kelch repeat and BTB domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1321017	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8714168	Kbtbd4	kelch repeat and BTB domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1321017	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
8714168	Kbtbd4	kelch repeat and BTB domain containing 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8714168	Kbtbd4	kelch repeat and BTB domain containing 4	gene	DOID:5030	pineal parenchymal tumor of intermediate differentiation		ISO	RGD:1321017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pineal parenchymal tumor of intermediate differentiation	PMID:27993330|PMID:28726821|PMID:30877433|PMID:31768671|PMID:31820118|PMID:33172502|PMID:33619588|PMID:35000018|PMID:35379950
8714168	Kbtbd4	kelch repeat and BTB domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8714189	Dtd1	D-aminoacyl-tRNA deacylase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8714189	Dtd1	D-aminoacyl-tRNA deacylase 1	gene	DOID:1909	melanoma		ISO	RGD:1323478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8714189	Dtd1	D-aminoacyl-tRNA deacylase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:0080416	developmental and epileptic encephalopathy 32		ISO	RGD:735518	D	RGD:7240710	20180130	OMIM			
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:0080416	developmental and epileptic encephalopathy 32		ISO	RGD:735518	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 32 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 32 | ClinVar Annotator: match by term: KCNA2-related condition | ClinVar Annotator: match by term: KCNA2-related disorder	PMID:15694325|PMID:16002579|PMID:16770729|PMID:18414213|PMID:18504314|PMID:20584892|PMID:20696761|PMID:20869590|PMID:21044565|PMID:2533790|PMID:25741868|PMID:25751627|PMID:25950944|PMID:26467025|PMID:26599217|PMID:27062609|PMID:27117551|PMID:27457812|PMID:27543892|PMID:27733563|PMID:28019661|PMID:28032718|PMID:28204960|PMID:28492532|PMID:29050392|PMID:29314583|PMID:31905474|PMID:32086284|PMID:33232902|PMID:33624935|PMID:33802230|PMID:34445196|PMID:36619507|PMID:37883018|PMID:38517617|PMID:39048885|PMID:40894870|PMID:40939882|PMID:8663992|PMID:8663993
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:735518	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1	PMID:15694325|PMID:16002579|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:27733563|PMID:28492532|PMID:29100083|PMID:8663992|PMID:8663993
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:0080855	Parkinsonism		ISO	RGD:735518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:28492532
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:10534	stomach cancer		ISO	RGD:735518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:1059	intellectual disability		ISO	RGD:735518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:10907	microcephaly		ISO	RGD:735518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:11830	myopia		ISO	RGD:735518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:11832	visual epilepsy		ISO	RGD:735518	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:25751627
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:1826	epilepsy		ISO	RGD:735518	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:25751627|PMID:27457812|PMID:28492532|PMID:28806589|PMID:29050392|PMID:30182498|PMID:33232902
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:1826	epilepsy		ISO	RGD:735518	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:2533790|PMID:25741868|PMID:25751627|PMID:27457812|PMID:28492532|PMID:28806589|PMID:29050392|PMID:29314583|PMID:30182498|PMID:33232902|PMID:33802230|PMID:36482122
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:735518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868|PMID:28492532
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:1891	optic nerve disease		ISO	RGD:735518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868|PMID:28492532
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:480	movement disease		ISO	RGD:735518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:630	genetic disease		ISO	RGD:735518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20696761|PMID:25741868|PMID:26467025|PMID:28019661|PMID:28492532
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:735518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:735518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:735518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:26648591|PMID:27062609|PMID:29050392
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:735518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:9005466	Language Development Disorders		ISO	RGD:735518	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25751627
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:735518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:2533790|PMID:25751627|PMID:28492532|PMID:29314583|PMID:33802230
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2950	D	RGD:9068941	20200609	RGD			PMID:17982915|REF_RGD_ID:7242761
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:9007661	Dwarfism		ISO	RGD:735518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:735518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:735518	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:735518	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15088113
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:936	brain disease		ISO	RGD:735518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:2533790|PMID:25751627|PMID:28492532|PMID:29314583|PMID:33802230
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:735518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:9970	obesity		ISO	RGD:735518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
8714239	Kcna2	potassium voltage-gated channel subfamily A member 2	gene	DOID:9993	hypoglycemia		ISO	RGD:735518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868|PMID:28492532
8714280	Ids	iduronate 2-sulfatase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351665	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
8714280	Ids	iduronate 2-sulfatase	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1351665	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:14728992|PMID:15500445|PMID:1639384|PMID:16495038|PMID:17091340|PMID:18414213|PMID:21291454|PMID:21829674|PMID:24125893|PMID:25741868|PMID:27246110|PMID:27351199|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:34258227|PMID:35005816|PMID:35144014|PMID:36713083|PMID:36945845|PMID:7581397|PMID:7887413|PMID:8111411|PMID:8566953|PMID:8830188|PMID:8940265|PMID:9501270|PMID:9660053|PMID:9875019|PMID:9921913|PMID:9950361
8714280	Ids	iduronate 2-sulfatase	gene	DOID:0050847	sleep apnea		ISO	RGD:1351665	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:1303211|PMID:14728992|PMID:15500445|PMID:15614569|PMID:16133661|PMID:1639384|PMID:16495038|PMID:17063374|PMID:17091340|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27351199|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:34258227|PMID:35005816|PMID:35144014|PMID:36713083|PMID:36945845|PMID:7581397|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8566953|PMID:8664909|PMID:8830188|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9501270|PMID:9660053|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
8714280	Ids	iduronate 2-sulfatase	gene	DOID:0060249	scoliosis		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532|PMID:36907694|PMID:36980980
8714280	Ids	iduronate 2-sulfatase	gene	DOID:0060320	inguinal hernia		ISO	RGD:1351665	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
8714280	Ids	iduronate 2-sulfatase	gene	DOID:0060321	umbilical hernia		ISO	RGD:1351665	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:14728992|PMID:15500445|PMID:1639384|PMID:16495038|PMID:17091340|PMID:18414213|PMID:21291454|PMID:21829674|PMID:24125893|PMID:25741868|PMID:27246110|PMID:27351199|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:34258227|PMID:35005816|PMID:35144014|PMID:36713083|PMID:36945845|PMID:7581397|PMID:7887413|PMID:8111411|PMID:8566953|PMID:8830188|PMID:8940265|PMID:9501270|PMID:9660053|PMID:9875019|PMID:9921913|PMID:9950361
8714280	Ids	iduronate 2-sulfatase	gene	DOID:0111390	mucopolysaccharidosis Ih		ISO	RGD:1351665	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysostosis multiplex	PMID:10215411|PMID:10447264|PMID:10838181|PMID:11462244|PMID:11683780|PMID:1303211|PMID:14728992|PMID:15500445|PMID:15614569|PMID:16133661|PMID:1639384|PMID:16495038|PMID:17063374|PMID:17091340|PMID:17391447|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:22990955|PMID:23800320|PMID:24125893|PMID:24515576|PMID:25741868|PMID:26407519|PMID:26693516|PMID:26762690|PMID:27146977|PMID:27246110|PMID:27351199|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:32036093|PMID:33676511|PMID:33960103|PMID:34258227|PMID:34813777|PMID:35005816|PMID:35144014|PMID:36713083|PMID:36945845|PMID:7581397|PMID:7728156|PMID:7814022|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8566953|PMID:8664909|PMID:8830188|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9501270|PMID:9660053|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
8714280	Ids	iduronate 2-sulfatase	gene	DOID:0111395	mucopolysaccharidosis type IIIA		ISO	RGD:1351665	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA | ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A)	PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:12048688|PMID:1284597|PMID:1303211|PMID:15614569|PMID:16133661|PMID:16480701|PMID:16495038|PMID:17063374|PMID:17091340|PMID:17391447|PMID:18414213|PMID:18500569|PMID:19573456|PMID:21108396|PMID:21291454|PMID:21829674|PMID:21834048|PMID:22976768|PMID:22976778|PMID:23232253|PMID:24125893|PMID:24515576|PMID:24780617|PMID:24798265|PMID:25741868|PMID:25976201|PMID:26407519|PMID:26897145|PMID:27146977|PMID:27246110|PMID:27351199|PMID:27848944|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:29095814|PMID:29671225|PMID:29801497|PMID:29966168|PMID:30639582|PMID:30809705|PMID:31877959|PMID:33676511|PMID:33960103|PMID:34670126|PMID:34813777|PMID:35144014|PMID:35225932|PMID:35614200|PMID:35887520|PMID:36713083|PMID:36907694|PMID:36945845|PMID:38053932|PMID:39077064|PMID:39803987|PMID:7581397|PMID:7599640|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8554071|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9501270|PMID:9573369|PMID:9660053|PMID:9875019|PMID:9921913|PMID:9950361
8714280	Ids	iduronate 2-sulfatase	gene	DOID:0111395	mucopolysaccharidosis type IIIA		ISO	RGD:1351665	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA | ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A)	PMID:10215411|PMID:10447264|PMID:11683780|PMID:12048688|PMID:1284597|PMID:15614569|PMID:16133661|PMID:16480701|PMID:16495038|PMID:17063374|PMID:17091340|PMID:17391447|PMID:18414213|PMID:18500569|PMID:19573456|PMID:21291454|PMID:21829674|PMID:21834048|PMID:22976768|PMID:22976778|PMID:24125893|PMID:24515576|PMID:24780617|PMID:24798265|PMID:25741868|PMID:25976201|PMID:26407519|PMID:26897145|PMID:27146977|PMID:27246110|PMID:27351199|PMID:27848944|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:29095814|PMID:29671225|PMID:29801497|PMID:29966168|PMID:30639582|PMID:30809705|PMID:31877959|PMID:33676511|PMID:33960103|PMID:34670126|PMID:34813777|PMID:35144014|PMID:35225932|PMID:35614200|PMID:35887520|PMID:36713083|PMID:36907694|PMID:36945845|PMID:38053932|PMID:39077064|PMID:39803987|PMID:7599640|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8554071|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9501270|PMID:9573369|PMID:9660053|PMID:9875019|PMID:9950361
8714280	Ids	iduronate 2-sulfatase	gene	DOID:10534	stomach cancer		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8714280	Ids	iduronate 2-sulfatase	gene	DOID:1059	intellectual disability		ISO	RGD:1351665	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:36907694|PMID:36980980|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
8714280	Ids	iduronate 2-sulfatase	gene	DOID:1115	sarcoma		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8714280	Ids	iduronate 2-sulfatase	gene	DOID:12799	mucopolysaccharidosis II		ISO	RGD:1351665	D	RGD:7240710	20180130	OMIM			
8714280	Ids	iduronate 2-sulfatase	gene	DOID:12799	mucopolysaccharidosis II		ISO	RGD:1351665	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, mild form	PMID:10215411|PMID:10220152|PMID:10671065|PMID:10738003|PMID:10814710|PMID:10838181|PMID:11452244|PMID:11462244|PMID:11683780|PMID:11731225|PMID:12572848|PMID:12794697|PMID:1284597|PMID:1303211|PMID:1355630|PMID:14728992|PMID:1550586|PMID:15614569|PMID:16133661|PMID:16199547|PMID:1639384|PMID:16480701|PMID:16495038|PMID:17063374|PMID:17091340|PMID:17284421|PMID:17343270|PMID:17391447|PMID:17576681|PMID:17655837|PMID:18414213|PMID:18500569|PMID:1906048|PMID:19573456|PMID:20104590|PMID:20301451|PMID:21291454|PMID:21639919|PMID:21829674|PMID:22153556|PMID:22190500|PMID:22286622|PMID:22492741|PMID:22912587|PMID:22976768|PMID:22976778|PMID:22990955|PMID:23430829|PMID:24125893|PMID:24268528|PMID:24454794|PMID:24515576|PMID:24780617|PMID:24875751|PMID:25038527|PMID:25640679|PMID:25681085|PMID:25741868|PMID:25976201|PMID:26407519|PMID:26693516|PMID:26752647|PMID:26762690|PMID:27146977|PMID:27246110|PMID:27351199|PMID:27848944|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:28593992|PMID:29801497|PMID:30409495|PMID:30639582|PMID:30755392|PMID:30809705|PMID:31732130|PMID:31877959|PMID:31895584|PMID:32005694|PMID:32014045|PMID:33075783|PMID:33096603|PMID:33117908|PMID:33124617|PMID:33622387|PMID:33676511|PMID:33960103|PMID:34670126|PMID:34813777|PMID:35005816|PMID:35144014|PMID:35242576|PMID:35916809|PMID:36945845|PMID:7581397|PMID:7728156|PMID:7814022|PMID:7866405|PMID:7887413|PMID:8111411|PMID:8318991|PMID:8364592|PMID:8664909|PMID:8807335|PMID:8829647|PMID:8829661|PMID:8830188|PMID:8940265|PMID:9222763|PMID:9266380|PMID:9375851|PMID:9452044|PMID:9501270|PMID:9536098|PMID:9573369|PMID:9660053|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
8714280	Ids	iduronate 2-sulfatase	gene	DOID:12799	mucopolysaccharidosis II		ISO	RGD:1351665	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hunter Syndrome | ClinVar Annotator: match by term: IDS-related condition | ClinVar Annotator: match by term: MPS2 | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE II | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE II, MILD FORM | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE II, SEVERE FORM | ClinVar Annotator: match by term: Mucopolysaccharidosis II | ClinVar Annotator: match by term: Mucopolysaccharidosis type II | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II	PMID:10215411|PMID:10220152|PMID:10447264|PMID:10493987|PMID:10671065|PMID:10838181|PMID:11015461|PMID:11452244|PMID:11462244|PMID:11683780|PMID:11731225|PMID:11858372|PMID:12572848|PMID:12655569|PMID:12794697|PMID:1284597|PMID:1303211|PMID:14728992|PMID:15192834|PMID:15500445|PMID:15614569|PMID:16133661|PMID:16199547|PMID:1639384|PMID:16456790|PMID:16480701|PMID:16495038|PMID:16699754|PMID:16735228|PMID:16738950|PMID:16770800|PMID:17063374|PMID:17091340|PMID:17284421|PMID:17343270|PMID:17391447|PMID:17576681|PMID:17616540|PMID:17655837|PMID:17657858|PMID:18331837|PMID:18396123|PMID:18414213|PMID:18500569|PMID:18546295|PMID:19046346|PMID:19167723|PMID:19573456|PMID:19933090|PMID:20104590|PMID:20301451|PMID:20960627|PMID:20960629|PMID:21062272|PMID:21291454|PMID:21528770|PMID:21605424|PMID:21639919|PMID:21706504|PMID:21829674|PMID:21834048|PMID:21910981|PMID:21963080|PMID:22153556|PMID:22190500|PMID:22246721|PMID:22286622|PMID:22492741|PMID:22622771|PMID:22912587|PMID:22976768|PMID:22990955|PMID:23232253|PMID:23430803|PMID:23430829|PMID:23430907|PMID:23726270|PMID:23800320|PMID:23867855|PMID:24125893|PMID:24268528|PMID:24454794|PMID:24515576|PMID:24767253|PMID:24780617|PMID:24798265|PMID:24875751|PMID:25038527|PMID:25169630|PMID:25640679|PMID:25681085|PMID:25741868|PMID:26407519|PMID:26693516|PMID:26752647|PMID:26762690|PMID:26897145|PMID:27146977|PMID:27187040|PMID:27246110|PMID:27351199|PMID:27789394|PMID:27789398|PMID:27789399|PMID:27837218|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28186595|PMID:28477385|PMID:28492532|PMID:28543354|PMID:28588666|PMID:28593992|PMID:28720891|PMID:28844463|PMID:29053855|PMID:29671225|PMID:29801497|PMID:30409495|PMID:30639582|PMID:30809705|PMID:30945278|PMID:31046699|PMID:31456290|PMID:31618753|PMID:31732130|PMID:31877959|PMID:31895584|PMID:31991612|PMID:32005694|PMID:32014045|PMID:32036093|PMID:32448126|PMID:32619248|PMID:32775211|PMID:33075783|PMID:33096603|PMID:33117908|PMID:33124617|PMID:33176815|PMID:33622387|PMID:33674846|PMID:33676511|PMID:33960103|PMID:34193122|PMID:34258227|PMID:34630504|PMID:34670126|PMID:34813777|PMID:34906519|PMID:35005816|PMID:35144014|PMID:35225932|PMID:35242576|PMID:35568060|PMID:35759972|PMID:35782619|PMID:35882106|PMID:35887520|PMID:35916809|PMID:36077388|PMID:36713083|PMID:36907694|PMID:36945845|PMID:36980980|PMID:38425718|PMID:39303318|PMID:39547427|PMID:7492967|PMID:7581397|PMID:7599640|PMID:7728156|PMID:7814022|PMID:7866405|PMID:7887413|PMID:7981716|PMID:8111411|PMID:8281149|PMID:8364592|PMID:8566953|PMID:8664909|PMID:8807335|PMID:8829647|PMID:8829661|PMID:8830188|PMID:8940265|PMID:9222763|PMID:9266380|PMID:9375851|PMID:9442913|PMID:9452044|PMID:9501270|PMID:9536098|PMID:9573369|PMID:9611068|PMID:9660053|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
8714280	Ids	iduronate 2-sulfatase	gene	DOID:12801	mucopolysaccharidosis III		ISO	RGD:1351665	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency	PMID:25741868|PMID:28492532
8714280	Ids	iduronate 2-sulfatase	gene	DOID:1283	enterocele		ISO	RGD:1351665	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:10215411|PMID:10447264|PMID:10671065|PMID:11462244|PMID:11683780|PMID:11858372|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:24780617|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31618753|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9501270|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
8714280	Ids	iduronate 2-sulfatase	gene	DOID:1686	glaucoma		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	PMID:11858372|PMID:1639384|PMID:21829674|PMID:24780617|PMID:25741868|PMID:27246110|PMID:28077157|PMID:28492532|PMID:30639582|PMID:35144014|PMID:36713083|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8940265|PMID:9501270|PMID:9875019
8714280	Ids	iduronate 2-sulfatase	gene	DOID:3275	thymoma		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8714280	Ids	iduronate 2-sulfatase	gene	DOID:381	arthropathy		ISO	RGD:1351665	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arthropathy	PMID:10215411|PMID:10447264|PMID:10671065|PMID:11462244|PMID:11683780|PMID:11858372|PMID:1303211|PMID:14728992|PMID:15500445|PMID:15614569|PMID:16133661|PMID:1639384|PMID:16495038|PMID:17063374|PMID:17091340|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:24780617|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27351199|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31618753|PMID:31877959|PMID:33676511|PMID:33960103|PMID:34258227|PMID:35005816|PMID:35144014|PMID:36713083|PMID:36945845|PMID:7581397|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8566953|PMID:8664909|PMID:8830188|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9501270|PMID:9660053|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
8714280	Ids	iduronate 2-sulfatase	gene	DOID:4702	mongolian spot		ISO	RGD:1351665	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	PMID:11462244|PMID:11683780|PMID:1284597|PMID:14728992|PMID:15614569|PMID:18414213|PMID:18500569|PMID:21291454|PMID:24125893|PMID:24798265|PMID:25681085|PMID:25741868|PMID:26762690|PMID:27146977|PMID:27187040|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:30639582|PMID:30809705|PMID:32775211|PMID:33676511|PMID:33960103|PMID:34670126|PMID:34813777|PMID:35144014|PMID:35225932|PMID:36945845|PMID:39303318|PMID:7581397|PMID:8111411|PMID:8364592|PMID:8664909|PMID:8940265|PMID:9222763|PMID:9266380|PMID:9375851|PMID:9501270|PMID:9660053|PMID:9875019|PMID:9921913|PMID:9950361
8714280	Ids	iduronate 2-sulfatase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8714280	Ids	iduronate 2-sulfatase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8714280	Ids	iduronate 2-sulfatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714280	Ids	iduronate 2-sulfatase	gene	DOID:630	genetic disease		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10671065|PMID:11858372|PMID:1639384|PMID:16495038|PMID:17063374|PMID:17091340|PMID:18414213|PMID:21291454|PMID:21639919|PMID:21829674|PMID:22286622|PMID:22976768|PMID:24125893|PMID:24780617|PMID:25741868|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31618753|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8940265|PMID:9452044|PMID:9501270|PMID:9875019|PMID:9950361
8714280	Ids	iduronate 2-sulfatase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8714280	Ids	iduronate 2-sulfatase	gene	DOID:9003816	Macrocephaly		ISO	RGD:1351665	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:10215411|PMID:10447264|PMID:10838181|PMID:11462244|PMID:11683780|PMID:11858372|PMID:1284597|PMID:1303211|PMID:14728992|PMID:15500445|PMID:15614569|PMID:16133661|PMID:1639384|PMID:16495038|PMID:17063374|PMID:17091340|PMID:17391447|PMID:18414213|PMID:18500569|PMID:21291454|PMID:21829674|PMID:22976768|PMID:22990955|PMID:23800320|PMID:24125893|PMID:24515576|PMID:24780617|PMID:24798265|PMID:25681085|PMID:25741868|PMID:26407519|PMID:26693516|PMID:26762690|PMID:27146977|PMID:27187040|PMID:27246110|PMID:27351199|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:30639582|PMID:30809705|PMID:31877959|PMID:32036093|PMID:32775211|PMID:33676511|PMID:33960103|PMID:34258227|PMID:34670126|PMID:34813777|PMID:35005816|PMID:35144014|PMID:35225932|PMID:36713083|PMID:36945845|PMID:39303318|PMID:7581397|PMID:7728156|PMID:7814022|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8364592|PMID:8566953|PMID:8664909|PMID:8830188|PMID:8940265|PMID:9222763|PMID:9266380|PMID:9375851|PMID:9442913|PMID:9452044|PMID:9501270|PMID:9660053|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
8714280	Ids	iduronate 2-sulfatase	gene	DOID:9004538	Hearing Loss		ISO	RGD:1351665	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:1303211|PMID:14728992|PMID:15500445|PMID:15614569|PMID:16133661|PMID:1639384|PMID:16495038|PMID:17063374|PMID:17091340|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27351199|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:34258227|PMID:35005816|PMID:35144014|PMID:36713083|PMID:36945845|PMID:7581397|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8566953|PMID:8664909|PMID:8830188|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9501270|PMID:9660053|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
8714280	Ids	iduronate 2-sulfatase	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1351665	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
8714280	Ids	iduronate 2-sulfatase	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1351665	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:11462244|PMID:11683780|PMID:1284597|PMID:14728992|PMID:15614569|PMID:18414213|PMID:18500569|PMID:21291454|PMID:24125893|PMID:24798265|PMID:25681085|PMID:25741868|PMID:26762690|PMID:27146977|PMID:27187040|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:30639582|PMID:30809705|PMID:32775211|PMID:33676511|PMID:33960103|PMID:34670126|PMID:34813777|PMID:35144014|PMID:35225932|PMID:36945845|PMID:39303318|PMID:7581397|PMID:8111411|PMID:8364592|PMID:8664909|PMID:8940265|PMID:9222763|PMID:9266380|PMID:9375851|PMID:9501270|PMID:9660053|PMID:9875019|PMID:9921913|PMID:9950361
8714280	Ids	iduronate 2-sulfatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:15614569|PMID:25741868|PMID:28492532|PMID:31877959|PMID:35144014
8714280	Ids	iduronate 2-sulfatase	gene	DOID:9007661	Dwarfism		ISO	RGD:1351665	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10215411|PMID:10447264|PMID:10838181|PMID:11462244|PMID:11683780|PMID:11858372|PMID:1303211|PMID:14728992|PMID:15500445|PMID:15614569|PMID:16133661|PMID:1639384|PMID:16495038|PMID:17063374|PMID:17091340|PMID:17391447|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:22990955|PMID:23800320|PMID:24125893|PMID:24515576|PMID:24780617|PMID:25741868|PMID:26407519|PMID:26693516|PMID:26762690|PMID:27146977|PMID:27246110|PMID:27351199|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:32036093|PMID:33676511|PMID:33960103|PMID:34258227|PMID:34813777|PMID:35005816|PMID:35144014|PMID:36713083|PMID:36945845|PMID:7581397|PMID:7728156|PMID:7814022|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8566953|PMID:8664909|PMID:8830188|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9501270|PMID:9660053|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
8714280	Ids	iduronate 2-sulfatase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11858372|PMID:1639384|PMID:21829674|PMID:24780617|PMID:25741868|PMID:27246110|PMID:28077157|PMID:28492532|PMID:30639582|PMID:35144014|PMID:36713083|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8940265|PMID:9501270|PMID:9875019
8714280	Ids	iduronate 2-sulfatase	gene	DOID:9008681	Deafness		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:25741868|PMID:35144014
8714280	Ids	iduronate 2-sulfatase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351665	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
8714296	Ecd	ecdysoneless cell cycle regulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8714296	Ecd	ecdysoneless cell cycle regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8714296	Ecd	ecdysoneless cell cycle regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8714296	Ecd	ecdysoneless cell cycle regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8714296	Ecd	ecdysoneless cell cycle regulator	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8714296	Ecd	ecdysoneless cell cycle regulator	gene	DOID:3070	high grade glioma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8714296	Ecd	ecdysoneless cell cycle regulator	gene	DOID:3275	thymoma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8714296	Ecd	ecdysoneless cell cycle regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714296	Ecd	ecdysoneless cell cycle regulator	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8714296	Ecd	ecdysoneless cell cycle regulator	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8714296	Ecd	ecdysoneless cell cycle regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8714296	Ecd	ecdysoneless cell cycle regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8714296	Ecd	ecdysoneless cell cycle regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8714296	Ecd	ecdysoneless cell cycle regulator	gene	DOID:9256	colorectal cancer		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8714317	Tfcp2	transcription factor CP2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8714317	Tfcp2	transcription factor CP2	gene	DOID:10534	stomach cancer		ISO	RGD:1315527	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8714317	Tfcp2	transcription factor CP2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8714317	Tfcp2	transcription factor CP2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8714317	Tfcp2	transcription factor CP2	gene	DOID:3275	thymoma		ISO	RGD:1315527	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8714317	Tfcp2	transcription factor CP2	gene	DOID:4362	cervical cancer		ISO	RGD:1315527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8714317	Tfcp2	transcription factor CP2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315527	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
8714317	Tfcp2	transcription factor CP2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714317	Tfcp2	transcription factor CP2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8714317	Tfcp2	transcription factor CP2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia	PMID:11499719|PMID:15519027|PMID:19574547|PMID:20474083|PMID:23690394|PMID:24033266|PMID:24510615|PMID:25543971|PMID:25611685|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28408708|PMID:28492532|PMID:28615295|PMID:29398688|PMID:31534214|PMID:35257994
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1314284	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:12707239|PMID:18533079|PMID:20215591|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25351510|PMID:25741868|PMID:26914223|PMID:28492532
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1314284	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:12707239|PMID:18533079|PMID:20215591|PMID:21499742|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25351510|PMID:25741868|PMID:26914223|PMID:28356264|PMID:28492532|PMID:28840316|PMID:34097875|PMID:35208637|PMID:35653365|PMID:37652022
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17386157|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20298698|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23785128|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26743238
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27854218|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28450932|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29555771|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30985088|PMID:31006259|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31293105|PMID:3140859|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32396390|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32543992|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32880476|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33407484|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34540771|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23785128|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28265379|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29555771|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29988065|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30985088|PMID:31006259|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31293105|PMID:3140859|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31589614|PMID:31730716|PMID:31737537|PMID:31918855|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32396390|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32880476|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34540771|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26654849
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31323898|PMID:31376648|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32356610|PMID:32369506|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33432171|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31323898|PMID:31376648|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32356610|PMID:32369506|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33432171|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34935411|PMID:35535697|PMID:35626289|PMID:35629155|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34816733|PMID:34915024|PMID:34935411|PMID:35208637|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:33919104|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34816733|PMID:34915024|PMID:34935411|PMID:35208637|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:33919104|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34816733|PMID:34819141|PMID:34915024|PMID:34935411|PMID:35208637|PMID:35304488|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:36328362|PMID:36588553|PMID:397516074|PMID:3980194
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33232181|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:33906374|PMID:33919104|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34816733|PMID:34819141|PMID:34915024|PMID:34935411|PMID:35208637|PMID:35304488|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:36264615
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:36328362|PMID:36588553|PMID:397516074|PMID:3980194|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy with or without skeletal myopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy with or without skeletal myopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:32917565|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy with or without skeletal myopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33892289|PMID:33906374|PMID:33919104|PMID:34011823|PMID:34026292|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34667957|PMID:34769381|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36788754|PMID:36835444|PMID:37178278|PMID:37477868|PMID:37589201|PMID:37963751|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:1504154|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24906243|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741909|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:32917565|PMID:33003980
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34667957|PMID:34769381|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36788754|PMID:36835444|PMID:37178278|PMID:37477868|PMID:37589201|PMID:37963751|PMID:3852942|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37178278|PMID:37431535|PMID:37477868|PMID:37589201|PMID:37963751|PMID:38296580|PMID:3852942|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:1504154|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20817590|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21158001|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22515980|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24906243|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:2561168|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28793143|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37178278|PMID:37431535|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37963751|PMID:38296580|PMID:3852942|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:2561168|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28793143|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:32830170|PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37178278|PMID:37431535|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37963751|PMID:38296580|PMID:3852942|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:1504154|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17192269|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20817590|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21158001|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22515980|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24906243|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741891|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28793143|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29625023|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32268277|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33558530|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35838873|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37178278|PMID:37431535|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37937776|PMID:37963751|PMID:38296580|PMID:3852942|PMID:39481677|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:1504154|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17192269|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20851114|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21158001|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21488308|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24906243|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741891|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28793143|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29625023|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32268277|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:32588587|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33558530|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34556856|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34680864|PMID:34694434|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35838873|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36140281|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37844837|PMID:37937352|PMID:37937776|PMID:37963751|PMID:38002985|PMID:38296580|PMID:38489124|PMID:3852942|PMID:38540378|PMID:38757491|PMID:39481677|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:1504154|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17192269|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20851114|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21158001|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21488308|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24906243|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741891|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28793143|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29625023|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32268277|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:32543992|PMID:32588587|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33558530|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34556856|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34680864|PMID:34694434|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35838873|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36140281|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37844837|PMID:37937352|PMID:37937776|PMID:37963751|PMID:38002985|PMID:38296580|PMID:38489124|PMID:3852942|PMID:38540378|PMID:38757491|PMID:39481677|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:1504154|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17192269|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17823372|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18803133|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20851114|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21158001|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21488308|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24906243|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741891|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28793143|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29625023|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32268277|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33558530|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34556856|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34680864|PMID:34694434|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35257994|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35838873|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36140281|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37750083|PMID:37844837|PMID:37937352|PMID:37937776|PMID:37963751|PMID:38002985|PMID:38094187|PMID:38296580|PMID:38489124|PMID:3852942|PMID:38540378|PMID:38757491|PMID:38836037|PMID:39001760|PMID:39481677|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10024348|PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11322659|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11704759|PMID:11748309|PMID:11814735|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12960218|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:1504154|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16783378|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17192269|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17532296|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17823372|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18698230|PMID:18713777|PMID:18761664|PMID:18803133|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19279310|PMID:19293840|PMID:19356534|PMID:19387866|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20108370|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20851114|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21158001|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21488308|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21598360|PMID:21638988|PMID:2171331|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22190617|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22848035|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23211702|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23935525|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24870368|PMID:24888384|PMID:24906243|PMID:25031304
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25164370|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741891|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27463523|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27657681|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28793143|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29021349|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29625023|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32268277|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33095980|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33558530|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33946315|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34556856|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34680864|PMID:34694434|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35177841|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35257994|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35838873|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36140281|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37750083|PMID:37844837|PMID:37937352|PMID:37937776|PMID:37963751|PMID:38002985|PMID:38094187|PMID:38296580|PMID:38489124|PMID:3852942|PMID:38540378|PMID:38757491|PMID:38836037|PMID:39001760|PMID:39481677|PMID:397516074|PMID:3980194|PMID:40115818|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:8852666|PMID:8898206|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9395081|PMID:9488686|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Idiopathic cardiomyopathy	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12202917|PMID:12386147|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15519027|PMID:15563892|PMID:15671604|PMID:16004897|PMID:16061003|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16335287|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16858239|PMID:17263690|PMID:17386157|PMID:17394878|PMID:17560888|PMID:17576681|PMID:17823372|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:18533079|PMID:18761664|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19149795|PMID:19150014|PMID:19273718|PMID:19356534|PMID:19574547|PMID:19659763|PMID:19694057|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:20800588|PMID:20864638|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21239446|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21425739|PMID:21472310|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21943931|PMID:21959974|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22429680|PMID:22464770|PMID:22560514|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24440382|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774605|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25611685|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26223264|PMID:26332594|PMID:26467025|PMID:26489474|PMID:26633542|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26899768|PMID:26914223|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27135274|PMID:27153395|PMID:27173948|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28747690|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29021349|PMID:29029073|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29398688|PMID:29447731|PMID:29497013|PMID:29524613|PMID:29540472|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29875314|PMID:29875424
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Idiopathic cardiomyopathy	PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30456444|PMID:30550750|PMID:30571196|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30984009|PMID:31006259|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31229680|PMID:31293105|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31568572|PMID:31660989|PMID:31677916|PMID:31729605|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31931689|PMID:31941943|PMID:31983221|PMID:32009526|PMID:32034629|PMID:32041989|PMID:32183154|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32355288|PMID:32369506|PMID:32380161|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32588587|PMID:32600061|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33588347|PMID:33658040|PMID:33662488|PMID:33673806|PMID:33732734|PMID:33782553|PMID:33830315|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33954932|PMID:33996946|PMID:34087240|PMID:34097875|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34461741|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34556856|PMID:34601892|PMID:34694434|PMID:34769381|PMID:34785479|PMID:34935411|PMID:35026164|PMID:35176171|PMID:35177841|PMID:35199016|PMID:35208637|PMID:35227736|PMID:35257994|PMID:35265679|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35508642|PMID:35535697|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35934244|PMID:35947370|PMID:36005429|PMID:36136372|PMID:36162733|PMID:36166435|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36352534|PMID:36357371|PMID:36588553|PMID:36788754|PMID:37089884|PMID:37194601|PMID:37466024|PMID:37477868|PMID:37652022|PMID:37844837|PMID:37904629|PMID:37937352|PMID:37937776|PMID:37949234|PMID:38002985|PMID:38008210|PMID:38104429|PMID:38254962|PMID:38259611|PMID:38296580|PMID:38417376|PMID:38456273|PMID:38489124|PMID:38642550|PMID:38757491|PMID:38836037|PMID:38895864|PMID:38938358|PMID:38999502|PMID:39001760|PMID:39125703|PMID:39160446|PMID:39260623|PMID:39272661|PMID:39472908|PMID:39486665|PMID:39554508|PMID:39633578|PMID:39684611|PMID:39895654|PMID:40115818|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9536098|PMID:9541115|PMID:9562578|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10521296|PMID:10610770|PMID:11447480|PMID:11499718|PMID:11499719|PMID:12106841|PMID:12110947|PMID:12202917|PMID:12386147|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:15000344|PMID:15114369|PMID:15115610|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16858239|PMID:17192269|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17394878|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17823372|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18761664|PMID:18929575|PMID:18957093|PMID:19149795|PMID:19150014|PMID:19356534|PMID:19574547|PMID:19632136|PMID:19659763|PMID:19694057|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:20738943|PMID:20800588|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21158001|PMID:21165360|PMID:21185001|PMID:21239446|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21425739|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21943931|PMID:21959974|PMID:22112859|PMID:22115648|PMID:22177269|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22464770|PMID:22560514|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22820391|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23549607|PMID:23590259|PMID:2367451|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23840593|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24440382|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24793961|PMID:24810389|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:2552433|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27005929|PMID:27096365|PMID:27108529|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28611029|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28747690|PMID:28771489|PMID:28790153|PMID:28794111|PMID:2879709|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28971120|PMID:28986452
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:29021349|PMID:29029073|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29247119|PMID:29300372|PMID:29398688|PMID:29447731|PMID:29497013|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30446606|PMID:30456444|PMID:30550750|PMID:30571196|PMID:30586709|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31229680|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31729605|PMID:31730716|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32034629|PMID:32041989|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32355288|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32588587|PMID:32600061|PMID:32659924|PMID:32686758|PMID:32710830|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32973354|PMID:33029862|PMID:33035702|PMID:33049255|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33558530|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33662488|PMID:33673806|PMID:33732734|PMID:33757590|PMID:33781820|PMID:33782553|PMID:33830315|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33954932|PMID:33996946|PMID:34051236|PMID:34076677|PMID:34087240|PMID:34097875|PMID:34137518|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34461741|PMID:34542152|PMID:34556856|PMID:34601892|PMID:34714385|PMID:34769381|PMID:34785479|PMID:34935411|PMID:35027292|PMID:35177841|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35257994|PMID:35265679|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35838873|PMID:35934244|PMID:35947370|PMID:36005429|PMID:36162733|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37652022|PMID:37821546|PMID:37904629|PMID:37937776|PMID:37949234|PMID:37963751|PMID:38002985|PMID:38008210|PMID:38042491|PMID:38094187|PMID:38104429|PMID:38254962|PMID:38259611|PMID:38296580|PMID:38417376|PMID:38456273|PMID:38489124|PMID:38586174|PMID:38642550|PMID:38757491|PMID:38795101|PMID:38836037|PMID:38895864|PMID:38938358|PMID:38999502|PMID:39001760|PMID:39125703|PMID:39160446|PMID:39260623|PMID:39272661|PMID:39355877|PMID:39472908|PMID:39486665|PMID:39554508|PMID:39633578|PMID:39684611|PMID:40115818|PMID:41175027|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9241277|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0050731	vitamin B12 deficiency		ISO	RGD:1314284	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Cobalamin deficiency	PMID:15519027|PMID:19574547|PMID:21959974|PMID:25741868|PMID:28492532|PMID:28640247|PMID:30550750
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0060319	cardiac arrest		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiac arrest	PMID:14563344|PMID:15519027|PMID:16352453|PMID:20624503|PMID:22361390|PMID:22958901|PMID:23140321|PMID:23299917|PMID:23785128|PMID:24033266|PMID:24503780|PMID:24510615|PMID:25163546|PMID:25637381|PMID:25741868|PMID:27332903|PMID:28492532|PMID:28790153|PMID:29247119|PMID:33035702|PMID:34935411|PMID:36252119|PMID:37652022
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0060480	left ventricular noncompaction		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction	PMID:22464770|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28640247|PMID:30188508|PMID:30297972|PMID:30847666|PMID:32600061|PMID:32841044|PMID:33782553|PMID:37652022
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0060674	catecholaminergic polymorphic ventricular tachycardia		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia	
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:11499718|PMID:15519027|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19150014|PMID:19659763|PMID:20019025|PMID:20624503|PMID:21185001|PMID:21239446|PMID:21638988|PMID:22267749|PMID:22857948|PMID:23396983|PMID:23861362|PMID:24093860|PMID:24510615|PMID:24704860|PMID:25031304|PMID:25741868|PMID:26671970|PMID:27532257|PMID:27688314|PMID:27737317|PMID:28024942|PMID:28492532|PMID:28615295|PMID:29121657|PMID:29300372|PMID:29447731|PMID:29907873|PMID:30696458|PMID:30871747|PMID:32746448|PMID:32841044|PMID:33407484|PMID:33782553|PMID:34400558|PMID:35535697|PMID:35626289|PMID:36252119|PMID:36357371|PMID:38104429|PMID:38254962|PMID:38999502|PMID:39125703|PMID:39160446|PMID:39554508|PMID:9562578
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29773157|PMID:29875314|PMID:29875424|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30446606|PMID:30550750|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31737537|PMID:32009526|PMID:32163302|PMID:32451163|PMID:32746448|PMID:32880476|PMID:33673806|PMID:34097875|PMID:34137518|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31293105|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32451163|PMID:32480058|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:34097875|PMID:34135346|PMID:34137518|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31293105|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31931689|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32451163|PMID:32480058|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32531501|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34588271|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35208637|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36588553|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35208637|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36588553|PMID:397516074|PMID:3980194|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33782553|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36082122|PMID:36166435|PMID:36178741|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:37178278|PMID:37477868|PMID:37589201|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33782553|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36082122|PMID:36166435|PMID:36178741|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:37178278|PMID:37477868|PMID:37589201|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33782553|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35470680|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36082122|PMID:36136372|PMID:36166435|PMID:36178741|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:36704059|PMID:37178278|PMID:37431535|PMID:37477868|PMID:37589201|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:11499718|PMID:11499719|PMID:12106841|PMID:12110947|PMID:12202917|PMID:12628722|PMID:12707239|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15115610|PMID:15519027|PMID:15671604|PMID:15936968|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16566405|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16858239|PMID:17192269|PMID:17224687|PMID:17823372|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18761664|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19574547|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20173211|PMID:20215591|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20474083|PMID:20530761|PMID:20542340|PMID:20594303|PMID:20624503|PMID:20738943|PMID:20800588|PMID:20864638|PMID:21088121|PMID:21158001|PMID:21185001|PMID:21239446|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21499742|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21959974|PMID:22112859|PMID:22115648|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23074333|PMID:23197398|PMID:23233322|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23508784|PMID:23527136|PMID:23549607|PMID:23590259|PMID:23690394|PMID:23782526|PMID:23840593|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24793961|PMID:24888384|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25210889|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:2552433|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25971843|PMID:26090888|PMID:26332594|PMID:26467025|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26914223|PMID:26936621|PMID:27108529|PMID:27173948|PMID:27267291|PMID:2732257|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27590665|PMID:27600940|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27885498|PMID:28024942|PMID:28029522|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28241245|PMID:28254189|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:2861529|PMID:28615295|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28971120|PMID:28986452|PMID:29121657|PMID:29212898|PMID:29247119|PMID:29300372|PMID:29398688|PMID:29447731|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29709087|PMID:29758562|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30291343|PMID:30297972|PMID:30446606|PMID:30550750|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31771441|PMID:31918855|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32163302|PMID:32228044|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32588587|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33658040|PMID:33662488|PMID:33673806|PMID:33732734|PMID:33782553|PMID:33874732|PMID:33906374|PMID:33996946|PMID:34076677|PMID:34097875|PMID:34389451|PMID:34400558|PMID:34542152|PMID:34556856|PMID:34714385|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35288587|PMID:35470680|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35838873|PMID:36162733|PMID:36252119|PMID:36264615
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:36291626|PMID:36357371|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37477868|PMID:37652022|PMID:37904629|PMID:38002985|PMID:38094187|PMID:38104429|PMID:38254962|PMID:38259611|PMID:38489124|PMID:38642550|PMID:38757491|PMID:38795101|PMID:38836037|PMID:38938358|PMID:38999502|PMID:39125703|PMID:39160446|PMID:39260623|PMID:39486665|PMID:39554508|PMID:39633578|PMID:40115818|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9241277|PMID:9562578|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0081158	dilated cardiomyopathy 1MM		ISO	RGD:1314284	D	RGD:7240710	20180130	OMIM			
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0081158	dilated cardiomyopathy 1MM		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1MM | ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1MM | ClinVar Annotator: match by term: Left ventricular noncompaction 10	PMID:11499718|PMID:11499719|PMID:12106841|PMID:12110947|PMID:12202917|PMID:12379228|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15519027|PMID:15671604|PMID:15936968|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16715312|PMID:16754800|PMID:16858239|PMID:17192269|PMID:17224687|PMID:17560888|PMID:17823372|PMID:17937428|PMID:18258667|PMID:18337725|PMID:18403758|PMID:18409188|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18761664|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19574547|PMID:19632136|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20474083|PMID:20530761|PMID:20542340|PMID:20594303|PMID:20624503|PMID:20738943|PMID:20800588|PMID:20864638|PMID:21158001|PMID:21185001|PMID:21239446|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22112859|PMID:22177269|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22464770|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22820391|PMID:22857948|PMID:22958901|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23406853|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23549607|PMID:2367451|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23840593|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24793961|PMID:24865491|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:2552433|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27096365|PMID:27108529|PMID:27173948|PMID:27194543|PMID:27267291|PMID:27332903|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28747690|PMID:28749478|PMID:28771489|PMID:28790153|PMID:28794111|PMID:2879709|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29121657|PMID:29212898|PMID:29247119|PMID:29300372|PMID:29398688|PMID:29447731|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29663722|PMID:29687901|PMID:29758562|PMID:29875314|PMID:29875424|PMID:29907873|PMID:30009132|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30446606|PMID:30456444|PMID:30550750|PMID:30571196|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30924982|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31229680|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31513939|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31729605|PMID:31730716|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32163302|PMID:32228044|PMID:32341788|PMID:32344918|PMID:32369506|PMID:32380161
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0081158	dilated cardiomyopathy 1MM		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1MM | ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1MM | ClinVar Annotator: match by term: Left ventricular noncompaction 10	PMID:32396390|PMID:32461654|PMID:32481709|PMID:32492895|PMID:32686758|PMID:32710830|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32973354|PMID:33029862|PMID:33035702|PMID:33258288|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33657327|PMID:33658040|PMID:33673806|PMID:33781820|PMID:33782553|PMID:3378553|PMID:33892289|PMID:33906374|PMID:33954932|PMID:33996946|PMID:34051236|PMID:34076677|PMID:34097875|PMID:34137518|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34714385|PMID:34935411|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35288587|PMID:35411935|PMID:35470680|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35934244|PMID:36005429|PMID:36162733|PMID:36166435|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36580209|PMID:36788754|PMID:36980931|PMID:37089884|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37652022|PMID:37821546|PMID:37904629|PMID:37937776|PMID:38002985|PMID:38042491|PMID:38094187|PMID:38104429|PMID:38254962|PMID:38259611|PMID:38456273|PMID:38489124|PMID:38586174|PMID:38757491|PMID:38795101|PMID:38938358|PMID:38999502|PMID:39001760|PMID:39125703|PMID:39160446|PMID:39260623|PMID:39355877|PMID:39486665|PMID:39554508|PMID:39633578|PMID:39684611|PMID:40115818|PMID:41175027|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9541104|PMID:9562578|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29663722|PMID:29686099|PMID:29759671|PMID:29790872|PMID:29875314|PMID:29875424|PMID:30025578|PMID:30165862|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:34097875|PMID:34135346|PMID:34137518|PMID:397516074|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29663722|PMID:29686099|PMID:29759671|PMID:29790872|PMID:29875314|PMID:29875424|PMID:30025578|PMID:30165862|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32492895|PMID:32531501|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34588271|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35208637|PMID:35535697|PMID:35626289|PMID:35653365|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33663232|PMID:33673806|PMID:33782553|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35411935|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36291626|PMID:36357371|PMID:36588553|PMID:37178278|PMID:37477868|PMID:397516074|PMID:3980194|PMID:739990|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33782553|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35411935|PMID:35470680|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36136372|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:36704059|PMID:37178278|PMID:37431535|PMID:37477868|PMID:37589201|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17192269|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:21088121|PMID:21158001|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22515980|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25228707|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29625023|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31771441|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33658040|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33782553|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35411935|PMID:35470680|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36136372|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:36704059|PMID:37178278|PMID:37431535|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37937776|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29625023|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31771441|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33658040|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33782553|PMID:33874732|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34556856|PMID:34588271|PMID:34598319|PMID:34680864|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35411935|PMID:35470680|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36136372|PMID:36140281|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:36704059|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37844837|PMID:37937776|PMID:38002985|PMID:38489124|PMID:38540378|PMID:38757491|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17192269|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17823372|PMID:17908752|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20851114|PMID:20864638|PMID:21088121|PMID:21158001|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25228707|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:27535533|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29625023|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31771441|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33658040|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33782553|PMID:33874732|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34556856|PMID:34588271|PMID:34598319|PMID:34680864|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35411935|PMID:35470680|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36136372|PMID:36140281|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:36704059|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37844837|PMID:37937776|PMID:38002985|PMID:38094187|PMID:38489124|PMID:38540378|PMID:38757491|PMID:38836037|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20250513	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10024348|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11322659|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11814735|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17192269|PMID:17224687|PMID:17532296|PMID:17560888|PMID:17576681|PMID:17823372|PMID:17908752|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18698230|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19387866|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20851114|PMID:20864638|PMID:21088121|PMID:21158001|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21598360|PMID:21638988|PMID:2171331|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22190617|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23935525|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25228707|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20250513	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:27267291|PMID:2732257|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27620334|PMID:27650965|PMID:27657681|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29625023|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31771441|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33095980|PMID:33148509|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33658040|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33782553|PMID:33874732|PMID:33906374|PMID:33946315|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34556856|PMID:34588271|PMID:34598319|PMID:34680864|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35411935|PMID:35470680|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36136372|PMID:36140281|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:36704059|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37844837|PMID:37937776|PMID:38002985|PMID:38094187|PMID:38489124|PMID:38540378|PMID:38757491|PMID:38836037|PMID:397516074|PMID:3980194|PMID:40115818|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8898206|PMID:9048664|PMID:9241277|PMID:9395081|PMID:9488686|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:11499718|PMID:11499719|PMID:12106841|PMID:12110947|PMID:12202917|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15114369|PMID:15115610|PMID:15519027|PMID:15671604|PMID:15936968|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16566405|PMID:16679492|PMID:16754800|PMID:16858239|PMID:17224687|PMID:17576681|PMID:17823372|PMID:17937428|PMID:18273486|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18761664|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19574547|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20433692|PMID:20474083|PMID:20530761|PMID:20542340|PMID:20594303|PMID:20624503|PMID:20738943|PMID:20800588|PMID:20864638|PMID:21088121|PMID:21158001|PMID:21185001|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21499742|PMID:21551322|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21959974|PMID:22112859|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23074333|PMID:23197398|PMID:23233322|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23508784|PMID:23527136|PMID:23549607|PMID:23590259|PMID:23690394|PMID:23782526|PMID:23840593|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24083979|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24793961|PMID:24888384|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25210889|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:2552433|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:26090888|PMID:26332594|PMID:26467025|PMID:26654849|PMID:26656175|PMID:26688216|PMID:26914223|PMID:26936621|PMID:27108529|PMID:27173948|PMID:2732257|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27590665|PMID:27600940|PMID:27620334|PMID:27650965|PMID:27885498|PMID:28029522|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28241245|PMID:28254189|PMID:28356264|PMID:28408708|PMID:28436997|PMID:28492532|PMID:28498465|PMID:2861529|PMID:28615295|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28971120|PMID:28986452|PMID:29021349|PMID:29030401|PMID:29121657|PMID:29212898|PMID:29247119|PMID:29398688|PMID:29447731|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29709087|PMID:29758562|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30291343|PMID:30297972|PMID:30446606|PMID:30550750|PMID:30645170|PMID:30696458|PMID:30763825|PMID:30775854|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31771441|PMID:31918855|PMID:31941943|PMID:31980526|PMID:32163302|PMID:32228044|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32588587|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33190526|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33658040|PMID:33662488|PMID:33673806|PMID:33732734|PMID:33782553|PMID:33874732|PMID:33906374|PMID:33996946|PMID:34076677|PMID:34097875|PMID:34137518|PMID:34389451|PMID:34400558|PMID:34542152|PMID:34556856|PMID:34714385|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35288587|PMID:35411935|PMID:35508642|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35838873|PMID:36162733|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36578016|PMID:37178278|PMID:37194601|PMID:37477868|PMID:37652022|PMID:37904629|PMID:38002985|PMID:38094187|PMID:38259611|PMID:38489124|PMID:38642550|PMID:38757491|PMID:38795101
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:38836037|PMID:38938358|PMID:39160446|PMID:39260623|PMID:39472908|PMID:39486665|PMID:39633578|PMID:40115818|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9241277|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110310	hypertrophic cardiomyopathy 4		ISO	RGD:1314284	D	RGD:7240710	20180130	OMIM			
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110310	hypertrophic cardiomyopathy 4		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 | ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: MYBPC3-related condition	PMID:10424815|PMID:10521296|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12202917|PMID:12386147|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12788380|PMID:12818575|PMID:12881443|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15358028|PMID:15519027|PMID:15671604|PMID:15856146|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16858239|PMID:17192269|PMID:17224687|PMID:17263690|PMID:17394878|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17823372|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19632136|PMID:19659763|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20128375|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20594303|PMID:20605413|PMID:20624503|PMID:20641121|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21158001|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21472310|PMID:21488259|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21799269|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21915287|PMID:21943931|PMID:21959974|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22177269|PMID:22178992|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22820391|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22989827|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23406853|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23549607|PMID:23590259|PMID:23642604|PMID:2367451|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23840593|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24327208|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24793961|PMID:24810389|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25228707|PMID:25262865|PMID:25281569|PMID:25326637|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:2552433|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25634555|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27096365|PMID:27108529|PMID:27173948|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110310	hypertrophic cardiomyopathy 4		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 | ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: MYBPC3-related condition	PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28747690|PMID:28749478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:2879709|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29095814|PMID:29121657|PMID:2921289|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29398688|PMID:29447731|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759638|PMID:29759671|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30327538|PMID:30446606|PMID:30456444|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30571196|PMID:30586709|PMID:30606897|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30665703|PMID:30674652|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31229680|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31729605|PMID:31730716|PMID:31737537|PMID:31771441|PMID:31877118|PMID:31901299|PMID:31918855|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32041989|PMID:32163302|PMID:32228044|PMID:32341788|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32543992|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32710830|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32973354|PMID:33029862|PMID:33035702|PMID:33049255|PMID:33190526|PMID:33258288|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33558530|PMID:33657327|PMID:33658040|PMID:33662488|PMID:33673806|PMID:33732734|PMID:33757590|PMID:33781820|PMID:33782553|PMID:3378553|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33954932|PMID:33996946|PMID:34008892|PMID:34051236|PMID:34076677|PMID:34087240|PMID:34097875|PMID:34137518|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34461741|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34556856|PMID:34601892|PMID:34714385|PMID:34785479|PMID:34935411|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35257994|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35838873|PMID:35934244|PMID:36005429|PMID:36162733|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36352534|PMID:36357371|PMID:36578016|PMID:36580209|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37352859|PMID:37431535|PMID:37445689|PMID:37466024|PMID:37477868|PMID:37652022|PMID:37821546|PMID:37844837|PMID:37904629|PMID:37929589|PMID:37937776|PMID:37949234|PMID:37963751|PMID:38002985|PMID:38042491|PMID:38094187|PMID:38104429|PMID:38186735|PMID:38254962|PMID:38259611|PMID:38296631|PMID:38456273|PMID:38489124|PMID:38549855|PMID:38586174|PMID:38642550|PMID:38757491|PMID:38795101|PMID:38836037|PMID:38938358|PMID:38999502|PMID:39001760|PMID:39125703|PMID:39160446|PMID:39237976|PMID:39260623|PMID:39355877|PMID:39456977|PMID:39472908|PMID:39486665|PMID:39554508|PMID:39581692|PMID:39633578|PMID:39684611|PMID:39769170|PMID:40115818|PMID:41175027|PMID:7352859|PMID:7493025|PMID:7493026|PMID:8655135|PMID:9048664|PMID:9218526|PMID:9241277|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	PMID:17560888|PMID:20474083|PMID:22763267|PMID:22958901|PMID:23283745|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24510615|PMID:24621997|PMID:24865491|PMID:25377941|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332594|PMID:26458567|PMID:26467025|PMID:28420666|PMID:28492532|PMID:28679633
8714363	Mybpc3	myosin binding protein C3	gene	DOID:0112072	nuclear type mitochondrial complex I deficiency 20		ISO	RGD:1314284	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20	PMID:11499718|PMID:12881443|PMID:12951062|PMID:15358028|PMID:15519027|PMID:15856146|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19150014|PMID:19659763|PMID:20019025|PMID:20624503|PMID:21185001|PMID:21239446|PMID:21638988|PMID:22267749|PMID:22455086|PMID:22857948|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24510615|PMID:24704860|PMID:25031304|PMID:25741868|PMID:26671970|PMID:27532257|PMID:27688314|PMID:27737317|PMID:28024942|PMID:28492532|PMID:28615295|PMID:29121657|PMID:29447731|PMID:30847666|PMID:30871747|PMID:31447099|PMID:33673806|PMID:35535697|PMID:8655135|PMID:9562578
8714363	Mybpc3	myosin binding protein C3	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1314284	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	PMID:25741868
8714363	Mybpc3	myosin binding protein C3	gene	DOID:10534	stomach cancer		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
8714363	Mybpc3	myosin binding protein C3	gene	DOID:1059	intellectual disability		ISO	RGD:1314284	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:15519027|PMID:16199547|PMID:18957093|PMID:19574547|PMID:21750094|PMID:22267749|PMID:23674513|PMID:24033266|PMID:24510615|PMID:25525159|PMID:25637381|PMID:25741868|PMID:27096365|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29029073
8714363	Mybpc3	myosin binding protein C3	gene	DOID:1059	intellectual disability		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:15519027|PMID:16199547|PMID:18957093|PMID:19574547|PMID:21750094|PMID:22267749|PMID:2367451|PMID:23674513|PMID:24033266|PMID:24510615|PMID:25525159|PMID:25637381|PMID:25741868|PMID:27096365|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29029073|PMID:30456444|PMID:31447099|PMID:32686758|PMID:32841044|PMID:33258288|PMID:37652022
8714363	Mybpc3	myosin binding protein C3	gene	DOID:1115	sarcoma		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8714363	Mybpc3	myosin binding protein C3	gene	DOID:11162	respiratory failure		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:16199547|PMID:19574547|PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30297972|PMID:37652022
8714363	Mybpc3	myosin binding protein C3	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:15519027|PMID:16199547|PMID:18957093|PMID:19574547|PMID:21750094|PMID:22267749|PMID:2367451|PMID:23674513|PMID:24033266|PMID:24510615|PMID:25525159|PMID:25637381|PMID:25741868|PMID:27096365|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29029073|PMID:30456444|PMID:31447099|PMID:32686758|PMID:32841044|PMID:33258288|PMID:37652022
8714363	Mybpc3	myosin binding protein C3	gene	DOID:11830	myopia		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:11499718|PMID:12202917|PMID:15519027|PMID:19574547|PMID:20474083|PMID:20864638|PMID:23549607|PMID:24510615|PMID:25031304|PMID:25714468|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875314|PMID:33495597|PMID:34542152|PMID:7493025
8714363	Mybpc3	myosin binding protein C3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic | ClinVar Annotator: match by term: Hypertrophic Cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11835941|PMID:11847170|PMID:12110947|PMID:12202917|PMID:12386140|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15370892|PMID:15519027|PMID:15563892|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16799241|PMID:16858239|PMID:17263690|PMID:17394878|PMID:17560888|PMID:17576681|PMID:17823372|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18803133|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19237661|PMID:19273718|PMID:19356534|PMID:19406073|PMID:19543287|PMID:19574547|PMID:19659763|PMID:19763152|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20173211|PMID:2021|PMID:20215591|PMID:20307669|PMID:20359594|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20594303|PMID:20605413|PMID:20624503|PMID:20641121|PMID:20689143|PMID:20738943|PMID:20800588|PMID:20864638|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21425739|PMID:21472310|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21799269|PMID:21817903|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21896538|PMID:21915287|PMID:21943931|PMID:21959974|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22314326|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22406018|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22560514|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22989827|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23233322|PMID:23277198|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23406853|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23816408|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24530899|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774605|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25228707|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25512492|PMID:25524337|PMID:25525159|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25635128|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741891|PMID:25849606|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26223264|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26467025|PMID:26489474|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26914223|PMID:27005929|PMID:27066506|PMID:27066507|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27574918|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886
8714363	Mybpc3	myosin binding protein C3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic | ClinVar Annotator: match by term: Hypertrophic Cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28327871|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28450932|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28694399|PMID:28704380|PMID:28747690|PMID:28749478|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28822653|PMID:28840316|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29219260|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29398688|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29524613|PMID:29540472|PMID:29565423|PMID:29631964|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30086531|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30425207|PMID:30446606|PMID:30456444|PMID:30550750|PMID:30571196|PMID:30586709|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30924982|PMID:30959811|PMID:31006259|PMID:31110529|PMID:31112421|PMID:31199839|PMID:31219556|PMID:31229680|PMID:31293105|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31677916|PMID:31729605|PMID:31730716|PMID:31737537|PMID:31764239|PMID:31771441|PMID:31901299|PMID:31912959|PMID:31918855|PMID:31931689|PMID:31941943|PMID:31983221|PMID:32009526|PMID:32034629|PMID:32041989|PMID:32183154|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32344918|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32451364|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32519640|PMID:32588587|PMID:32600061|PMID:32659924|PMID:32686758|PMID:32710830|PMID:32731933|PMID:32746448|PMID:32764337|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32860008|PMID:32880476|PMID:33012304|PMID:33029862|PMID:33087929|PMID:33190517|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33586461|PMID:33658040|PMID:33662488|PMID:33673806|PMID:33732734|PMID:33782553|PMID:3378553|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33954932|PMID:33996946|PMID:34076677|PMID:34087240|PMID:34097875|PMID:34137518|PMID:34263907|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34461741|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34556856|PMID:34601892|PMID:34680864|PMID:34694434|PMID:34714385|PMID:34785479|PMID:34819141|PMID:34935411|PMID:35026164|PMID:35176171|PMID:35199016|PMID:35208637|PMID:35227736|PMID:35257994|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35508642|PMID:35535697|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35717150|PMID:35838873|PMID:35934244|PMID:35947370|PMID:36005429|PMID:36008935|PMID:36082122|PMID:36136372|PMID:36162733|PMID:36166435|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36352534|PMID:36357371|PMID:36357925|PMID:36370805|PMID:36474027|PMID:36481846|PMID:36578016|PMID:36788754|PMID:37002766|PMID:37089884|PMID:37194601|PMID:37342443|PMID:37466024|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37750083|PMID:37797718|PMID:37821546|PMID:37844837|PMID:37904629|PMID:37937352|PMID:37937776|PMID:37949234|PMID:38002985|PMID:38008210|PMID:38042491|PMID:38104429|PMID:38254962|PMID:38259611|PMID:38456273|PMID:38489124|PMID:38642550|PMID:38691546|PMID:38757491|PMID:38811883|PMID:38836037|PMID:38895864|PMID:38938358|PMID:38999502|PMID:39001760|PMID:39125703
8714363	Mybpc3	myosin binding protein C3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic | ClinVar Annotator: match by term: Hypertrophic Cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:39160446|PMID:39260623|PMID:39272661|PMID:39472908|PMID:39481677|PMID:39486665|PMID:39554508|PMID:39633578|PMID:39684611|PMID:39895654|PMID:73|PMID:7493025|PMID:7493026|PMID:83|PMID:8533079|PMID:9048664|PMID:9218526|PMID:9241277|PMID:9536098|PMID:9541100|PMID:9541104|PMID:9562578|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic | ClinVar Annotator: match by term: Hypertrophic Cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:10521296|PMID:10610770|PMID:11|PMID:11499718|PMID:11499719|PMID:12106841|PMID:12110947|PMID:12202917|PMID:12386140|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:15000344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15370892|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16799241|PMID:16858239|PMID:17192269|PMID:17224687|PMID:17263690|PMID:17394878|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17823372|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18803133|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19237661|PMID:19356534|PMID:19406073|PMID:19543287|PMID:19574547|PMID:19632136|PMID:19659763|PMID:19763152|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20128375|PMID:20173211|PMID:2021|PMID:20215591|PMID:20307669|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20594303|PMID:20624503|PMID:20641121|PMID:20689143|PMID:20738943|PMID:20800588|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21158001|PMID:21165360|PMID:21185001|PMID:21239446|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21425739|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21799269|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21896538|PMID:21915287|PMID:21943931|PMID:21959974|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22267749|PMID:22314326|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22406018|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22560514|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22820391|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22989827|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23277198|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23406853|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23549607|PMID:23590259|PMID:2367451|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24530899|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24793961|PMID:24810389|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25228707|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25512492|PMID:2552433|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25634555|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741891|PMID:2584960|PMID:25849606|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27005929|PMID:27066506|PMID:27066507|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27135274|PMID:27173948|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27574918|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468
8714363	Mybpc3	myosin binding protein C3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic | ClinVar Annotator: match by term: Hypertrophic Cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:27737317|PMID:27831900|PMID:27834932|PMID:27840609|PMID:27841901|PMID:27885498|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28327871|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28450932|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28694399|PMID:28704380|PMID:28747690|PMID:28749478|PMID:28771489|PMID:28790153|PMID:28794111|PMID:2879709|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28822653|PMID:28840316|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29121657|PMID:29192238|PMID:2921289|PMID:29212898|PMID:29219260|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29398688|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29631964|PMID:29661763|PMID:29663722|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29764897|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30086531|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30425207|PMID:30446606|PMID:30456444|PMID:30550750|PMID:30571196|PMID:30586709|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30924982|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31112421|PMID:31199839|PMID:31219556|PMID:31229680|PMID:31293105|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31729605|PMID:31730716|PMID:31737537|PMID:31764239|PMID:31771441|PMID:31901299|PMID:31912959|PMID:31918855|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32034629|PMID:32041989|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32341788|PMID:32344918|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32451163|PMID:32451364|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32519640|PMID:32588587|PMID:32600061|PMID:32659924|PMID:32686758|PMID:32710830|PMID:32731933|PMID:32746448|PMID:32764337|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32973354|PMID:33012304|PMID:33029862|PMID:33035702|PMID:33049255|PMID:33087929|PMID:33190517|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33558530|PMID:33586461|PMID:33657327|PMID:33658040|PMID:33662488|PMID:33673806|PMID:33732734|PMID:33757590|PMID:33781820|PMID:33782553|PMID:3378553|PMID:33831308|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33954932|PMID:33996946|PMID:34051236|PMID:34076677|PMID:34087240|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34263907|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34461741|PMID:34503678|PMID:34542152|PMID:34556856|PMID:34601892|PMID:34680864|PMID:34714385|PMID:34785479|PMID:34819141|PMID:34935411|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35257994|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35717150|PMID:35753512|PMID:35838873|PMID:35934244|PMID:35947370|PMID:36005429|PMID:36008935|PMID:36082122|PMID:36162733|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36352534|PMID:36357371|PMID:36357925|PMID:36370805|PMID:36481846|PMID:36578016|PMID:36580209|PMID:36788754|PMID:36835444
8714363	Mybpc3	myosin binding protein C3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic | ClinVar Annotator: match by term: Hypertrophic Cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:36980931|PMID:37002766|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37342443|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37750083|PMID:37797718|PMID:37821546|PMID:37904629|PMID:37937776|PMID:37949234|PMID:37963751|PMID:38002985|PMID:38008210|PMID:38042491|PMID:38094187|PMID:38104429|PMID:38254962|PMID:38259611|PMID:38456273|PMID:38473809|PMID:38489124|PMID:38586174|PMID:38642550|PMID:38691546|PMID:38757491|PMID:38795101|PMID:38811883|PMID:38836037|PMID:38895864|PMID:38938358|PMID:38999368|PMID:38999502|PMID:39001760|PMID:39125703|PMID:39160446|PMID:39260623|PMID:39272661|PMID:39355877|PMID:39472908|PMID:39486665|PMID:39554508|PMID:39633578|PMID:39684611|PMID:40115818|PMID:41175027|PMID:73|PMID:7493025|PMID:7493026|PMID:83|PMID:8533079|PMID:9048664|PMID:9218526|PMID:9241277|PMID:9536098|PMID:9541100|PMID:9541104|PMID:9562578|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1314284	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:16199547|PMID:17937428|PMID:18403758|PMID:18467358|PMID:19574547|PMID:19808356|PMID:21835286|PMID:23054336|PMID:24510615|PMID:25031304|PMID:25335496|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28492532|PMID:29121657|PMID:29212898|PMID:31447099|PMID:36162733|PMID:7493025
8714363	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29875424|PMID:30165862|PMID:30972196|PMID:31006259|PMID:31028938|PMID:32009526|PMID:9048664|PMID:9562578
8714363	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29875424|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31447099|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32686758|PMID:9048664|PMID:9562578
8714363	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29875424|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31447099|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32686758|PMID:33782553|PMID:34097875|PMID:9048664|PMID:9562578
8714363	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:9048664|PMID:9562578
8714363	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578
8714363	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:34935411|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578
8714363	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27885498|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:32841044|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:34426522|PMID:34935411|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578
8714363	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20560008|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27885498|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:32841044|PMID:33190526|PMID:33432171|PMID:33495597|PMID:33500567|PMID:33782553|PMID:34097875|PMID:34389451|PMID:34426522|PMID:34935411|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578
8714363	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20560008|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27885498|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:32841044|PMID:33190526|PMID:33432171|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34389451|PMID:34426522|PMID:34935411|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578
8714363	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15519027|PMID:1572569|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18533079|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:203962|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20560008|PMID:20624503|PMID:20800588|PMID:20864638|PMID:21239446|PMID:21302287|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22464770|PMID:22563033|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24865491|PMID:25031304|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25524337|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27885498|PMID:27896284|PMID:28214152|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30775854|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31376648|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32731933|PMID:32841044|PMID:33190526|PMID:33241513|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34310159|PMID:34389451|PMID:34426522|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35265679|PMID:35411935|PMID:35581137|PMID:35581268|PMID:7493025|PMID:9048664|PMID:925171|PMID:9562578
8714363	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15519027|PMID:1572569|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18533079|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:203962|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20560008|PMID:20624503|PMID:20800588|PMID:20864638|PMID:21239446|PMID:21302287|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22464770|PMID:22563033|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24865491|PMID:25031304|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25524337|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27885498|PMID:27896284|PMID:28214152|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29758562|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30775854|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31376648|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32731933|PMID:32841044|PMID:33190526|PMID:33241513|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34310159|PMID:34389451|PMID:34426522|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35265679|PMID:35411935|PMID:35581137|PMID:35581268|PMID:7493025|PMID:9048664|PMID:925171|PMID:9562578
8714363	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12566107|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:1572569|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:17823372|PMID:18533079|PMID:18761664|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:203962|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20560008|PMID:20624503|PMID:20800588|PMID:20864638|PMID:21239446|PMID:21302287|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22464770|PMID:22563033|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24865491|PMID:25031304|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25524337|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26743238|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27885498|PMID:27896284|PMID:28214152|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29758562|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30009132|PMID:30165862|PMID:30615648|PMID:30665703|PMID:30775854|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31376648|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32731933|PMID:32841044|PMID:33190526|PMID:33241513|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34310159|PMID:34389451|PMID:34426522|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35265679|PMID:35411935|PMID:35581137|PMID:35581268|PMID:35629155|PMID:35653365|PMID:35838873|PMID:37652022|PMID:38094187|PMID:7493025|PMID:7493026|PMID:9048664|PMID:925171|PMID:9562578
8714363	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12566107|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:17823372|PMID:18533079|PMID:18761664|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20560008|PMID:20624503|PMID:20800588|PMID:20864638|PMID:21239446|PMID:21302287|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22464770|PMID:22563033|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24865491|PMID:25031304|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25524337|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26743238|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27885498|PMID:27896284|PMID:28214152|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29758562|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30009132|PMID:30165862|PMID:30615648|PMID:30665703|PMID:30775854|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31376648|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32731933|PMID:32841044|PMID:33190526|PMID:33241513|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34310159|PMID:34389451|PMID:34426522|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35265679|PMID:35411935|PMID:35581137|PMID:35581268|PMID:35629155|PMID:35653365|PMID:35838873|PMID:36252119|PMID:37652022|PMID:38094187|PMID:38489124|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9562578
8714363	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12788380|PMID:12818575|PMID:12974739|PMID:15114369|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:18533079|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19574547|PMID:20031618|PMID:20045868|PMID:20215591|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20624503|PMID:20800588|PMID:20864638|PMID:21239446|PMID:21302287|PMID:21750094|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22337857|PMID:22763267|PMID:22857948|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23299917|PMID:23396983|PMID:23549607|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24111713|PMID:24510615|PMID:24793961|PMID:25031304|PMID:25086479|PMID:25132132|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26743238|PMID:26914223|PMID:27153395|PMID:27332903|PMID:27418595|PMID:27532257|PMID:27600940|PMID:27650965|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28971120|PMID:29247119|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30009132|PMID:30731207|PMID:30775854|PMID:31006259|PMID:31219556|PMID:31376648|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32731933|PMID:32841044|PMID:33087929|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:33892289|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34503678|PMID:34542152|PMID:34935411|PMID:35265679|PMID:35411935|PMID:35581268|PMID:35653365|PMID:36252119|PMID:37466024|PMID:37652022|PMID:38489124|PMID:39684611|PMID:39895654|PMID:7493025|PMID:9562578
8714363	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:12202917|PMID:12707239|PMID:12788380|PMID:15114369|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16715312|PMID:17560888|PMID:17823372|PMID:18533079|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19574547|PMID:20031618|PMID:20215591|PMID:20433692|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20624503|PMID:20800588|PMID:20864638|PMID:21239446|PMID:21302287|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22267749|PMID:22337857|PMID:22763267|PMID:22857948|PMID:22958901|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23549607|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24865491|PMID:25031304|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:2552433|PMID:25524337|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26743238|PMID:26914223|PMID:27194543|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27885498|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28971120|PMID:29121657|PMID:29247119|PMID:29758562|PMID:29875314|PMID:29875424|PMID:30009132|PMID:30165862|PMID:30731207|PMID:30775854|PMID:31006259|PMID:31028938|PMID:31376648|PMID:31737537|PMID:31983221|PMID:32731933|PMID:32841044|PMID:33087929|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:33892289|PMID:34310159|PMID:34400558|PMID:34426522|PMID:34503678|PMID:34542152|PMID:34935411|PMID:35027292|PMID:35265679|PMID:35411935|PMID:35581137|PMID:35581268|PMID:35653365|PMID:36252119|PMID:37466024|PMID:37652022|PMID:38094187|PMID:38254962|PMID:39684611|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9562578
8714363	Mybpc3	myosin binding protein C3	gene	DOID:1324	lung cancer		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8714363	Mybpc3	myosin binding protein C3	gene	DOID:1826	epilepsy		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:12788380|PMID:19574547|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30442288|PMID:30731207|PMID:37652022
8714363	Mybpc3	myosin binding protein C3	gene	DOID:1909	melanoma		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8714363	Mybpc3	myosin binding protein C3	gene	DOID:2030	anxiety disorder		ISO	RGD:1314284	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:17937428|PMID:18403758|PMID:18467358|PMID:19808356|PMID:21835286|PMID:23054336|PMID:24510615|PMID:25031304|PMID:25335496|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28492532|PMID:29121657|PMID:29212898|PMID:31447099|PMID:36162733|PMID:7493025
8714363	Mybpc3	myosin binding protein C3	gene	DOID:2843	long QT syndrome		ISO	RGD:1314284	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:16335287|PMID:16715312|PMID:18533079|PMID:18957093|PMID:19574547|PMID:19996403|PMID:20215591|PMID:20458009|PMID:20624503|PMID:20800588|PMID:21310275|PMID:22429680|PMID:22763267|PMID:22857948|PMID:22958901|PMID:23140321|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24721642|PMID:25163546|PMID:25342278|PMID:25524337|PMID:25741868|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27532257|PMID:28492532|PMID:28679633|PMID:28771489|PMID:30297972|PMID:32746448|PMID:33673806
8714363	Mybpc3	myosin binding protein C3	gene	DOID:2843	long QT syndrome		ISO	RGD:1314284	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:16335287|PMID:16715312|PMID:18533079|PMID:18957093|PMID:19574547|PMID:19632136|PMID:19996403|PMID:20215591|PMID:20458009|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21750094|PMID:22361390|PMID:22429680|PMID:22464770|PMID:22763267|PMID:22857948|PMID:22958901|PMID:23140321|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24721642|PMID:25163546|PMID:25342278|PMID:25524337|PMID:25741868|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27532257|PMID:28138913|PMID:28492532|PMID:28679633|PMID:28771489|PMID:29255176|PMID:29853478|PMID:30297972|PMID:30847666|PMID:31323898|PMID:32746448|PMID:32841044|PMID:33495597|PMID:33673806|PMID:33782553
8714363	Mybpc3	myosin binding protein C3	gene	DOID:2843	long QT syndrome		ISO	RGD:1314284	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:16715312|PMID:18533079|PMID:18957093|PMID:19574547|PMID:19632136|PMID:19996403|PMID:20215591|PMID:20458009|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21750094|PMID:22361390|PMID:22429680|PMID:22464770|PMID:22763267|PMID:22958901|PMID:23140321|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24721642|PMID:25342278|PMID:25524337|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28138913|PMID:28166811|PMID:28254189|PMID:28492532|PMID:28771489|PMID:30025578|PMID:30297972|PMID:31110529|PMID:32163302|PMID:32396390|PMID:32746448|PMID:33495596|PMID:33673806|PMID:33996946|PMID:34076677|PMID:34714385|PMID:35626289|PMID:35653365|PMID:37652022|PMID:37937776|PMID:38002985|PMID:39160446|PMID:39486665
8714363	Mybpc3	myosin binding protein C3	gene	DOID:3082	interstitial lung disease		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Interstitial pneumonitis	PMID:11499718|PMID:15519027|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19150014|PMID:19659763|PMID:20019025|PMID:20624503|PMID:21185001|PMID:21239446|PMID:21638988|PMID:22267749|PMID:22857948|PMID:23396983|PMID:23861362|PMID:24093860|PMID:24510615|PMID:24704860|PMID:25031304|PMID:25741868|PMID:26671970|PMID:27532257|PMID:27688314|PMID:27737317|PMID:28024942|PMID:28492532|PMID:28615295|PMID:29121657|PMID:29300372|PMID:29447731|PMID:29907873|PMID:30696458|PMID:30871747|PMID:32746448|PMID:32841044|PMID:33407484|PMID:33782553|PMID:34400558|PMID:35535697|PMID:35626289|PMID:36252119|PMID:36357371|PMID:38104429|PMID:38254962|PMID:38999502|PMID:39125703|PMID:39160446|PMID:39554508|PMID:9562578
8714363	Mybpc3	myosin binding protein C3	gene	DOID:3459	breast carcinoma		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:16181148|PMID:16199547|PMID:17263690|PMID:19149795|PMID:19574547|PMID:20975235|PMID:25525159|PMID:25741868|PMID:28420666|PMID:28492532|PMID:30105547
8714363	Mybpc3	myosin binding protein C3	gene	DOID:3650	lactic acidosis		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:12788380|PMID:19574547|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30731207
8714363	Mybpc3	myosin binding protein C3	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1314284	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:16858239|PMID:17192269|PMID:18533079|PMID:19150014|PMID:20031602|PMID:20173211|PMID:20414521|PMID:20624503|PMID:21415409|PMID:21750094|PMID:21835320|PMID:22765922|PMID:23233322|PMID:23299917|PMID:23508784|PMID:23690394|PMID:24033266|PMID:24093860|PMID:24793961|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:25971843|PMID:26090888|PMID:27108529|PMID:27267291|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28193612|PMID:28241245|PMID:28356264|PMID:28420666|PMID:28492532|PMID:28518168|PMID:28798025|PMID:28986452|PMID:30297972|PMID:30446606|PMID:30645170|PMID:30731207|PMID:30871747|PMID:30972196|PMID:31941943|PMID:32228044|PMID:32233023|PMID:32369506|PMID:32841044|PMID:35470680|PMID:36252119|PMID:36264615|PMID:36291626|PMID:37431535|PMID:37652022
8714363	Mybpc3	myosin binding protein C3	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:17192269|PMID:18533079|PMID:20173211|PMID:20414521|PMID:20624503|PMID:21415409|PMID:21835320|PMID:22765922|PMID:23233322|PMID:23299917|PMID:24033266|PMID:24093860|PMID:25524337|PMID:25637381|PMID:25741868|PMID:25971843|PMID:26090888|PMID:27267291|PMID:28420666|PMID:28492532|PMID:28518168|PMID:30446606|PMID:30645170|PMID:30731207|PMID:30871747|PMID:30972196|PMID:32233023|PMID:32369506|PMID:35470680|PMID:37431535|PMID:37652022
8714363	Mybpc3	myosin binding protein C3	gene	DOID:5041	esophageal cancer		ISO	RGD:1314284	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:21239446|PMID:24033266|PMID:25740977|PMID:25741868|PMID:26467025|PMID:28492532
8714363	Mybpc3	myosin binding protein C3	gene	DOID:6000	congestive heart failure		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congestive heart failure | ClinVar Annotator: match by term: Heart failure	PMID:11499719|PMID:12110947|PMID:15000344|PMID:16141195|PMID:16858239|PMID:18273486|PMID:19574547|PMID:20031618|PMID:20173211|PMID:20359594|PMID:21302287|PMID:21835320|PMID:22267749|PMID:22857948|PMID:23590259|PMID:23674513|PMID:23782526|PMID:24033266|PMID:24704860|PMID:24888384|PMID:25524337|PMID:25611685|PMID:25740977|PMID:25741868|PMID:26656175|PMID:26688388|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28679633|PMID:28790153|PMID:28797094|PMID:29121657|PMID:29710196|PMID:29875424|PMID:30297972|PMID:30550750|PMID:30775854|PMID:32163302|PMID:32228044|PMID:32451163|PMID:32481709|PMID:32841044|PMID:33673806|PMID:33782553|PMID:34556856|PMID:35508642|PMID:36166435|PMID:37178278|PMID:37652022
8714363	Mybpc3	myosin binding protein C3	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1314284	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:19150014|PMID:22765922|PMID:25741868|PMID:27930701|PMID:28356264|PMID:28492532|PMID:32917565|PMID:33919104|PMID:35629155|PMID:35885957
8714363	Mybpc3	myosin binding protein C3	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	PMID:12788380|PMID:19574547|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30731207
8714363	Mybpc3	myosin binding protein C3	gene	DOID:784	chronic kidney disease		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:11499718|PMID:15519027|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19150014|PMID:19659763|PMID:20019025|PMID:20624503|PMID:21185001|PMID:21239446|PMID:21638988|PMID:22267749|PMID:22857948|PMID:23396983|PMID:23861362|PMID:24093860|PMID:24510615|PMID:24704860|PMID:25031304|PMID:25741868|PMID:26671970|PMID:27532257|PMID:27688314|PMID:27737317|PMID:28024942|PMID:28492532|PMID:28615295|PMID:29121657|PMID:29300372|PMID:29447731|PMID:29907873|PMID:30696458|PMID:30871747|PMID:32746448|PMID:32841044|PMID:33407484|PMID:33782553|PMID:34400558|PMID:35535697|PMID:35626289|PMID:36252119|PMID:36357371|PMID:38104429|PMID:38254962|PMID:38999502|PMID:39125703|PMID:39160446|PMID:39554508|PMID:9562578
8714363	Mybpc3	myosin binding protein C3	gene	DOID:870	neuropathy		ISO	RGD:1314284	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:22958901|PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532|PMID:32841044|PMID:33495597|PMID:33782553|PMID:37652022
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9000006	Supraventricular Tachycardia		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Supraventricular tachycardia	PMID:25741868|PMID:28492532
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:11499718|PMID:12202917|PMID:15519027|PMID:20474083|PMID:20864638|PMID:22958901|PMID:23549607|PMID:24510615|PMID:24793961|PMID:25031304|PMID:25714468|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875314|PMID:32841044|PMID:33495597|PMID:33782553|PMID:37652022|PMID:7493025
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1314284	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:22958901|PMID:24510615|PMID:25637381|PMID:25741868|PMID:27332903|PMID:28492532|PMID:28790153|PMID:29247119|PMID:34935411|PMID:36252119|PMID:37652022
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9000323	Biventricular Hypertrophy		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Biventricular hypertrophy	PMID:14563344|PMID:15519027|PMID:16679492|PMID:17612681|PMID:18403758|PMID:18409188|PMID:19356534|PMID:19574547|PMID:19858127|PMID:20505798|PMID:20624503|PMID:22574137|PMID:22857948|PMID:23233322|PMID:24111713|PMID:25335496|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28794111|PMID:30586709|PMID:30742251|PMID:31006259|PMID:31513939|PMID:31918855|PMID:32841044|PMID:33049255|PMID:33673806|PMID:33757590|PMID:35470684|PMID:36178741|PMID:36252119|PMID:36835444|PMID:37963751
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:12707239|PMID:16199547|PMID:18957093|PMID:19574547|PMID:20019025|PMID:20624503|PMID:20800588|PMID:21959974|PMID:22574137|PMID:22958901|PMID:23299917|PMID:24033266|PMID:24083979|PMID:24093860|PMID:24510615|PMID:25078086|PMID:25637381|PMID:25741868|PMID:26633542|PMID:26914223|PMID:27532257|PMID:27535533|PMID:27600940|PMID:27885498|PMID:28408708|PMID:28416588|PMID:28492532|PMID:29875424|PMID:30775854|PMID:30847666|PMID:31006259|PMID:31333075|PMID:31513939|PMID:31568572|PMID:32341788|PMID:32841044|PMID:33495596|PMID:33906374|PMID:34400558|PMID:34426522|PMID:35653365|PMID:37652022|PMID:9562578|PMID:9742053
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9000590	Dyspnea		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:15519027|PMID:19574547|PMID:20359594|PMID:21302287|PMID:22958901|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:31983221|PMID:32746448|PMID:32841044|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34137518|PMID:35653365|PMID:36203036|PMID:9541104
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9000596	Isolated Noncompaction of the Ventricular Myocardium		ISO	RGD:1314284	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Isolated Noncompaction of the Ventricular Myocardium	PMID:25741868|PMID:27532257|PMID:31513939|PMID:36264615
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9000727	Syncope		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:17394878|PMID:19574547|PMID:20624503|PMID:20800588|PMID:21896538|PMID:22958901|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25741868|PMID:27532257|PMID:28138913|PMID:28492532|PMID:28640247|PMID:28971120|PMID:31983221|PMID:32746448|PMID:32841044|PMID:33495597|PMID:33782553|PMID:35653365|PMID:37652022
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1314284	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:16199547|PMID:17937428|PMID:18403758|PMID:18467358|PMID:19574547|PMID:19808356|PMID:20215591|PMID:21835286|PMID:23054336|PMID:24033266|PMID:24111713|PMID:24510615|PMID:25031304|PMID:25132132|PMID:25335496|PMID:25525159|PMID:25611685|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28193612|PMID:28492532|PMID:29121657|PMID:29212898|PMID:31447099|PMID:36162733|PMID:7493025
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9001733	Tinnitus		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:11499718|PMID:12202917|PMID:15519027|PMID:20474083|PMID:20864638|PMID:23549607|PMID:24510615|PMID:25031304|PMID:25714468|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875314|PMID:33495597|PMID:7493025
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9002919	Sudden Unexpected Nocturnal Death Syndrome		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome	PMID:18533079|PMID:20215591|PMID:21499742|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25351510|PMID:25741868|PMID:26914223|PMID:28492532|PMID:28840316|PMID:34097875|PMID:35208637|PMID:35653365|PMID:37652022
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myocardial fibrosis	PMID:16199547|PMID:19574547|PMID:20215591|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25525159|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28193612|PMID:28492532
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9003674	Chest Pain		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chest pain	PMID:17576681|PMID:25351510|PMID:25741868|PMID:28492532|PMID:34461741|PMID:39472908|PMID:9536098
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1314284	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22189562
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:12110947|PMID:15000344|PMID:16141195|PMID:17394878|PMID:18273486|PMID:18533079|PMID:19574547|PMID:19996403|PMID:20624503|PMID:20800588|PMID:21896538|PMID:22267749|PMID:22857948|PMID:23396983|PMID:23590259|PMID:23782526|PMID:24033266|PMID:24111713|PMID:24704860|PMID:24888384|PMID:25524337|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28138913|PMID:28254189|PMID:28492532|PMID:28640247|PMID:28679633|PMID:28797094|PMID:28971120|PMID:30025578|PMID:30297972|PMID:30775854|PMID:31110529|PMID:32163302|PMID:32396390|PMID:32451163|PMID:32841044|PMID:33495596|PMID:33673806|PMID:33996946|PMID:34076677|PMID:34714385|PMID:35508642|PMID:35626289|PMID:35653365|PMID:37178278|PMID:37652022|PMID:38002985|PMID:39160446|PMID:39486665
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1314284	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25566086
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:1314284	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar Annotator: match by term: Sudden infant death syndrome	PMID:11499718|PMID:11499719|PMID:12707239|PMID:15519027|PMID:17823372|PMID:21959974|PMID:22267749|PMID:24033266|PMID:24510615|PMID:24793961|PMID:2552433|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28492532|PMID:29121657|PMID:29758562|PMID:30165862|PMID:31028938|PMID:31737537|PMID:35027292|PMID:35581137|PMID:37652022|PMID:38094187|PMID:7493026|PMID:9048664|PMID:9562578
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9007288	Left Ventricular Noncompaction 1		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS	PMID:11499718|PMID:12202917|PMID:15114369|PMID:15519027|PMID:18533079|PMID:18957093|PMID:19574547|PMID:20474083|PMID:20864638|PMID:22857948|PMID:23549607|PMID:24033266|PMID:24510615|PMID:24793961|PMID:25031304|PMID:25714468|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875314|PMID:33495596|PMID:33495597|PMID:33673806|PMID:35411935|PMID:35581268|PMID:7493025
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9007614	Paroxysmal Atrial Fibrillation		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paroxysmal atrial fibrillation	PMID:22958901|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29540472|PMID:30571196|PMID:32880476|PMID:33782553|PMID:37652022
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9007820	Sudden Death		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sudden death | ClinVar Annotator: match by term: Sudden unexplained death	PMID:22958901|PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532|PMID:32841044|PMID:33495597|PMID:33782553|PMID:37652022
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9007923	Back Pain		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Back pain	PMID:17576681|PMID:25351510|PMID:25741868|PMID:28492532|PMID:34461741|PMID:39472908|PMID:9536098
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sudden cardiac death	PMID:22958901|PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532|PMID:32841044|PMID:33495597|PMID:33782553|PMID:37652022
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9008385	Vomiting		ISO	RGD:1314284	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:15519027|PMID:19574547|PMID:21959974|PMID:25741868|PMID:28492532|PMID:28640247|PMID:30550750
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9008421	Epistaxis		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:11499718|PMID:12202917|PMID:15519027|PMID:20474083|PMID:20864638|PMID:23549607|PMID:24510615|PMID:25031304|PMID:25714468|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875314|PMID:33495597|PMID:7493025
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9477	pulmonary embolism		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary embolism	PMID:22958901|PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532|PMID:32841044|PMID:33495597|PMID:33782553|PMID:37652022
8714363	Mybpc3	myosin binding protein C3	gene	DOID:9997	peripartum cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Peripartum cardiomyopathy	PMID:21750094|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31983221|PMID:38254962
8714420	Sypl2	synaptophysin like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8714420	Sypl2	synaptophysin like 2	gene	DOID:1115	sarcoma		ISO	RGD:1603517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8714420	Sypl2	synaptophysin like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714452	Faap100	FA core complex associated protein 100	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8714452	Faap100	FA core complex associated protein 100	gene	DOID:1115	sarcoma		ISO	RGD:1604593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8714452	Faap100	FA core complex associated protein 100	gene	DOID:1909	melanoma		ISO	RGD:1604593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8714452	Faap100	FA core complex associated protein 100	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714452	Faap100	FA core complex associated protein 100	gene	DOID:6039	uveal melanoma		ISO	RGD:1604593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8714452	Faap100	FA core complex associated protein 100	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8714452	Faap100	FA core complex associated protein 100	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8714452	Faap100	FA core complex associated protein 100	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:0050700	cardiomyopathy		ISO	RGD:69004	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:31903486
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:62205	D	RGD:9068941	20220825	MouseDO		OMIM:268000	
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:1115	sarcoma		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:11372	megacolon		ISO	RGD:69004	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:1909	melanoma		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:3275	thymoma		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:4362	cervical cancer		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:4752	multiple system atrophy		ISO	RGD:62205	D	RGD:9068941	20200609	RGD		protein:decreased expression:frontal cortex:	PMID:24304186|REF_RGD_ID:11553929
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:4752	multiple system atrophy		ISO	RGD:69004	D	RGD:9068941	20200609	RGD		protein:decreased expression:frontal cortex:	PMID:24304186|REF_RGD_ID:11553929
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:69004	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:8466	retinal degeneration		ISO	RGD:69004	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinal degeneration	PMID:25741868|PMID:31345061|PMID:31903486
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:8501	fundus dystrophy		ISO	RGD:69004	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:31903486
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:9004147	Anosmia		ISO	RGD:69004	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hyposmia	PMID:25741868|PMID:31903486
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:9004496	Hypertaurinuric Cardiomyopathy		ISO	RGD:69004	D	RGD:7240710	20210707	OMIM			
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:9004496	Hypertaurinuric Cardiomyopathy		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertaurinuric cardiomyopathy	PMID:25741868|PMID:31903486
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:69004	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:9649	congenital nystagmus		ISO	RGD:69004	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital nystagmus	PMID:25741868|PMID:31903486
8714476	Slc6a6	solute carrier family 6 member 6	gene	DOID:9970	obesity		ISO	RGD:69004	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:31903486
8714507	Ing3	inhibitor of growth family member 3	gene	DOID:3275	thymoma		ISO	RGD:1321527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8714507	Ing3	inhibitor of growth family member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8714507	Ing3	inhibitor of growth family member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1321527	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8714507	Ing3	inhibitor of growth family member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8714507	Ing3	inhibitor of growth family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8714507	Ing3	inhibitor of growth family member 3	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1310556	D	RGD:9068941	20200609	RGD			PMID:25156538|REF_RGD_ID:9587823
8714546	Cst7	cystatin F	gene	DOID:0080600	COVID-19		ISO	RGD:1342542	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8714546	Cst7	cystatin F	gene	DOID:5041	esophageal cancer		ISO	RGD:1342542	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8714546	Cst7	cystatin F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714546	Cst7	cystatin F	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1342542	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
8714546	Cst7	cystatin F	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8714554	Coq5	coenzyme Q5, methyltransferase	gene	DOID:0080600	COVID-19		ISO	RGD:1604266	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8714554	Coq5	coenzyme Q5, methyltransferase	gene	DOID:0112138	primary coenzyme Q10 deficiency 9		ISO	RGD:1604266	D	RGD:7240710	20200930	OMIM			
8714554	Coq5	coenzyme Q5, methyltransferase	gene	DOID:0112138	primary coenzyme Q10 deficiency 9		ISO	RGD:1604266	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COQ5-related condition | ClinVar Annotator: match by term: Coenzyme q10 deficiency, primary, 9	PMID:21937992|PMID:25741868|PMID:28492532
8714554	Coq5	coenzyme Q5, methyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1604266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
8714554	Coq5	coenzyme Q5, methyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1604266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8714554	Coq5	coenzyme Q5, methyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1604266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8714554	Coq5	coenzyme Q5, methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714554	Coq5	coenzyme Q5, methyltransferase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8714568	Stap2	signal transducing adaptor family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8714568	Stap2	signal transducing adaptor family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8714568	Stap2	signal transducing adaptor family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8714568	Stap2	signal transducing adaptor family member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8714568	Stap2	signal transducing adaptor family member 2	gene	DOID:1115	sarcoma		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8714568	Stap2	signal transducing adaptor family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8714568	Stap2	signal transducing adaptor family member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8714568	Stap2	signal transducing adaptor family member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8714568	Stap2	signal transducing adaptor family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1601996	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8714568	Stap2	signal transducing adaptor family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714568	Stap2	signal transducing adaptor family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8714568	Stap2	signal transducing adaptor family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8714568	Stap2	signal transducing adaptor family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8714588	Timm21	translocase of inner mitochondrial membrane 21	gene	DOID:1909	melanoma		ISO	RGD:1351951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8714588	Timm21	translocase of inner mitochondrial membrane 21	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8714588	Timm21	translocase of inner mitochondrial membrane 21	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8714588	Timm21	translocase of inner mitochondrial membrane 21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8714588	Timm21	translocase of inner mitochondrial membrane 21	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8714607	Dennd1c	DENN domain containing 1C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8714607	Dennd1c	DENN domain containing 1C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8714607	Dennd1c	DENN domain containing 1C	gene	DOID:1115	sarcoma		ISO	RGD:1345609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8714607	Dennd1c	DENN domain containing 1C	gene	DOID:1909	melanoma		ISO	RGD:1345609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8714607	Dennd1c	DENN domain containing 1C	gene	DOID:3275	thymoma		ISO	RGD:1345609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8714607	Dennd1c	DENN domain containing 1C	gene	DOID:4362	cervical cancer		ISO	RGD:1345609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8714607	Dennd1c	DENN domain containing 1C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714607	Dennd1c	DENN domain containing 1C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8714607	Dennd1c	DENN domain containing 1C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8714643	Znf394	zinc finger protein 394	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8714643	Znf394	zinc finger protein 394	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8714690	Ttc29	tetratricopeptide repeat domain 29	gene	DOID:0070183	spermatogenic failure 5		ISO	RGD:1605320	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder	PMID:25741868|PMID:31735292|PMID:31735294|PMID:36346162
8714690	Ttc29	tetratricopeptide repeat domain 29	gene	DOID:0111923	spermatogenic failure 42		ISO	RGD:1605320	D	RGD:7240710	20200226	OMIM			
8714690	Ttc29	tetratricopeptide repeat domain 29	gene	DOID:0111923	spermatogenic failure 42		ISO	RGD:1605320	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 42 | ClinVar Annotator: match by term: Spermatogenic failure 42	PMID:25741868
8714690	Ttc29	tetratricopeptide repeat domain 29	gene	DOID:1324	lung cancer		ISO	RGD:1605320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8714690	Ttc29	tetratricopeptide repeat domain 29	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8714690	Ttc29	tetratricopeptide repeat domain 29	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8714690	Ttc29	tetratricopeptide repeat domain 29	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714706	Map4k1	mitogen-activated protein kinase kinase kinase kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8714706	Map4k1	mitogen-activated protein kinase kinase kinase kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8714706	Map4k1	mitogen-activated protein kinase kinase kinase kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8714706	Map4k1	mitogen-activated protein kinase kinase kinase kinase 1	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:1305463	D	RGD:9068941	20200609	RGD			PMID:18382279|PMID:18498770|REF_RGD_ID:7495845|REF_RGD_ID:7495847
8714706	Map4k1	mitogen-activated protein kinase kinase kinase kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8714706	Map4k1	mitogen-activated protein kinase kinase kinase kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313504	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8714706	Map4k1	mitogen-activated protein kinase kinase kinase kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714706	Map4k1	mitogen-activated protein kinase kinase kinase kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8714706	Map4k1	mitogen-activated protein kinase kinase kinase kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8714706	Map4k1	mitogen-activated protein kinase kinase kinase kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8714741	Stoml2	stomatin like 2	gene	DOID:2773	contact dermatitis		ISO	RGD:1317972	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
8714770	Ggn	gametogenetin	gene	DOID:0070568	spermatogenic failure 69		ISO	RGD:1315571	D	RGD:7240710	20220427	OMIM			
8714770	Ggn	gametogenetin	gene	DOID:0070568	spermatogenic failure 69		ISO	RGD:1315571	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 69	
8714770	Ggn	gametogenetin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8714770	Ggn	gametogenetin	gene	DOID:5041	esophageal cancer		ISO	RGD:1315571	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8714770	Ggn	gametogenetin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714779	Ccdc116	coiled-coil domain containing 116	gene	DOID:10534	stomach cancer		ISO	RGD:1602289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8714779	Ccdc116	coiled-coil domain containing 116	gene	DOID:1324	lung cancer		ISO	RGD:1602289	D	RGD:9068941	20220721	RGD		DNA:SNP:promoter:rs3747093 (human)	PMID:29193083|REF_RGD_ID:153297750
8714779	Ccdc116	coiled-coil domain containing 116	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8714804	Mob3a	MOB kinase activator 3A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8714804	Mob3a	MOB kinase activator 3A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8714804	Mob3a	MOB kinase activator 3A	gene	DOID:1324	lung cancer		ISO	RGD:1317819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8714804	Mob3a	MOB kinase activator 3A	gene	DOID:3275	thymoma		ISO	RGD:1317819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8714804	Mob3a	MOB kinase activator 3A	gene	DOID:4362	cervical cancer		ISO	RGD:1317819	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8714804	Mob3a	MOB kinase activator 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714804	Mob3a	MOB kinase activator 3A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317819	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8714804	Mob3a	MOB kinase activator 3A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8714804	Mob3a	MOB kinase activator 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8714822	Pxmp2	peroxisomal membrane protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8714822	Pxmp2	peroxisomal membrane protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8714822	Pxmp2	peroxisomal membrane protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1347054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8714822	Pxmp2	peroxisomal membrane protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714822	Pxmp2	peroxisomal membrane protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8714822	Pxmp2	peroxisomal membrane protein 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1347054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8714840	Timm50	translocase of inner mitochondrial membrane 50	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8714840	Timm50	translocase of inner mitochondrial membrane 50	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8714840	Timm50	translocase of inner mitochondrial membrane 50	gene	DOID:0070002	3-methylglutaconic aciduria type 9		ISO	RGD:1606193	D	RGD:7240710	20190315	OMIM			
8714840	Timm50	translocase of inner mitochondrial membrane 50	gene	DOID:0070002	3-methylglutaconic aciduria type 9		ISO	RGD:1606193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX | ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 9 | ClinVar Annotator: match by term: TIMM50-related condition	PMID:25741868|PMID:27573165|PMID:28492532|PMID:31058414|PMID:32369862
8714840	Timm50	translocase of inner mitochondrial membrane 50	gene	DOID:1909	melanoma		ISO	RGD:1606193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8714840	Timm50	translocase of inner mitochondrial membrane 50	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8714840	Timm50	translocase of inner mitochondrial membrane 50	gene	DOID:3275	thymoma		ISO	RGD:1606193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
8714840	Timm50	translocase of inner mitochondrial membrane 50	gene	DOID:4362	cervical cancer		ISO	RGD:1606193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8714840	Timm50	translocase of inner mitochondrial membrane 50	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:28492532|PMID:9536098
8714840	Timm50	translocase of inner mitochondrial membrane 50	gene	DOID:630	genetic disease		ISO	RGD:1606193	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:30765764
8714840	Timm50	translocase of inner mitochondrial membrane 50	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8714840	Timm50	translocase of inner mitochondrial membrane 50	gene	DOID:9007385	Mitochondrial Encephalopathy		ISO	RGD:1606193	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mitochondrial encephalopathy	PMID:25741868
8714840	Timm50	translocase of inner mitochondrial membrane 50	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8714855	Stx7	syntaxin 7	gene	DOID:0050453	lissencephaly		ISO	RGD:737314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pachygyria	PMID:26395554
8714855	Stx7	syntaxin 7	gene	DOID:0050562	West syndrome		ISO	RGD:737314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:26395554
8714855	Stx7	syntaxin 7	gene	DOID:10534	stomach cancer		ISO	RGD:737314	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8714855	Stx7	syntaxin 7	gene	DOID:1059	intellectual disability		ISO	RGD:737314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:26395554
8714855	Stx7	syntaxin 7	gene	DOID:10907	microcephaly		ISO	RGD:737314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:26395554
8714855	Stx7	syntaxin 7	gene	DOID:1115	sarcoma		ISO	RGD:737314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8714855	Stx7	syntaxin 7	gene	DOID:1324	lung cancer		ISO	RGD:737314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8714855	Stx7	syntaxin 7	gene	DOID:1826	epilepsy		ISO	RGD:737314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:26395554
8714855	Stx7	syntaxin 7	gene	DOID:3275	thymoma		ISO	RGD:737314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8714855	Stx7	syntaxin 7	gene	DOID:5041	esophageal cancer		ISO	RGD:737314	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8714855	Stx7	syntaxin 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714855	Stx7	syntaxin 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8714855	Stx7	syntaxin 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8714855	Stx7	syntaxin 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8714855	Stx7	syntaxin 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8714882	Pdcd6ip	programmed cell death 6 interacting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8714882	Pdcd6ip	programmed cell death 6 interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8714882	Pdcd6ip	programmed cell death 6 interacting protein	gene	DOID:0051040	primary autosomal recessive microcephaly 29		ISO	RGD:68505	D	RGD:7240710	20221012	OMIM			
8714882	Pdcd6ip	programmed cell death 6 interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8714882	Pdcd6ip	programmed cell death 6 interacting protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8714882	Pdcd6ip	programmed cell death 6 interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8714882	Pdcd6ip	programmed cell death 6 interacting protein	gene	DOID:1324	lung cancer		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8714882	Pdcd6ip	programmed cell death 6 interacting protein	gene	DOID:1909	melanoma		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8714882	Pdcd6ip	programmed cell death 6 interacting protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8714882	Pdcd6ip	programmed cell death 6 interacting protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8714882	Pdcd6ip	programmed cell death 6 interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714882	Pdcd6ip	programmed cell death 6 interacting protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8714882	Pdcd6ip	programmed cell death 6 interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8714882	Pdcd6ip	programmed cell death 6 interacting protein	gene	DOID:8398	osteoarthritis		ISO	RGD:68505	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8714882	Pdcd6ip	programmed cell death 6 interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8714882	Pdcd6ip	programmed cell death 6 interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8714882	Pdcd6ip	programmed cell death 6 interacting protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8714882	Pdcd6ip	programmed cell death 6 interacting protein	gene	DOID:9256	colorectal cancer		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8714909	Pdlim3	PDZ and LIM domain 3	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:733817	D	RGD:9068941	20220825	MouseDO			
8714909	Pdlim3	PDZ and LIM domain 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1351346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532|PMID:34935411
8714909	Pdlim3	PDZ and LIM domain 3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1351346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:16199547|PMID:17576681|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:32746448|PMID:33874732|PMID:33996946|PMID:9536098
8714909	Pdlim3	PDZ and LIM domain 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351346	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:9536098
8714909	Pdlim3	PDZ and LIM domain 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351346	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:9536098
8714909	Pdlim3	PDZ and LIM domain 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351346	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:32746448|PMID:9536098
8714909	Pdlim3	PDZ and LIM domain 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351346	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:32746448|PMID:34802252|PMID:9536098
8714909	Pdlim3	PDZ and LIM domain 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351346	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:32746448|PMID:33996946|PMID:34802252|PMID:9536098
8714909	Pdlim3	PDZ and LIM domain 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351346	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:32746448|PMID:33996946|PMID:34802252|PMID:34935411|PMID:9536098
8714909	Pdlim3	PDZ and LIM domain 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221
8714909	Pdlim3	PDZ and LIM domain 3	gene	DOID:1909	melanoma		ISO	RGD:1351346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8714909	Pdlim3	PDZ and LIM domain 3	gene	DOID:397	restrictive cardiomyopathy		ISO	RGD:1351346	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Restrictive cardiomyopathy	PMID:25741868
8714909	Pdlim3	PDZ and LIM domain 3	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1351346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:24033266|PMID:28492532
8714948	Npr3	natriuretic peptide receptor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8714948	Npr3	natriuretic peptide receptor 3	gene	DOID:0080001	bone disease		ISO	RGD:11008	D	RGD:9068941	20220825	MouseDO			
8714948	Npr3	natriuretic peptide receptor 3	gene	DOID:10763	hypertension		ISO	RGD:731641	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-55C>A (human)	PMID:12872042|REF_RGD_ID:1580175
8714948	Npr3	natriuretic peptide receptor 3	gene	DOID:17	musculoskeletal system disease		ISO	RGD:11008	D	RGD:9068941	20200609	RGD		DNA:deletion, missense mutation, nonsense mutation:cds:c.195_232del, c.283C>T, c.502C>A (mouse)	PMID:10468599|REF_RGD_ID:1580774
8714948	Npr3	natriuretic peptide receptor 3	gene	DOID:5041	esophageal cancer		ISO	RGD:731641	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8714948	Npr3	natriuretic peptide receptor 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8714948	Npr3	natriuretic peptide receptor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714948	Npr3	natriuretic peptide receptor 3	gene	DOID:630	genetic disease		ISO	RGD:731641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8714948	Npr3	natriuretic peptide receptor 3	gene	DOID:8947	diabetic retinopathy		ISO	RGD:3196	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:retina (rat)	PMID:15789000|REF_RGD_ID:1580773
8714948	Npr3	natriuretic peptide receptor 3	gene	DOID:9002060	BOUDIN-MORTIER SYNDROME		ISO	RGD:731641	D	RGD:7240710	20211020	OMIM			
8714948	Npr3	natriuretic peptide receptor 3	gene	DOID:9002060	BOUDIN-MORTIER SYNDROME		ISO	RGD:731641	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BOUDIN-MORTIER SYNDROME | ClinVar Annotator: match by term: Boudin-Mortier syndrome | ClinVar Annotator: match by term: NPR3-related condition	PMID:25741868|PMID:28492532|PMID:30032985|PMID:35233476|PMID:40171685
8714948	Npr3	natriuretic peptide receptor 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:731641	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208208
8714948	Npr3	natriuretic peptide receptor 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:731641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8714948	Npr3	natriuretic peptide receptor 3	gene	DOID:9004657	Weight Gain		ISO	RGD:731641	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8714948	Npr3	natriuretic peptide receptor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8714948	Npr3	natriuretic peptide receptor 3	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:3196	D	RGD:9068941	20200609	RGD			PMID:15337698|REF_RGD_ID:1580149
8714948	Npr3	natriuretic peptide receptor 3	gene	DOID:9256	colorectal cancer		ISO	RGD:731641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8714964	Dgka	diacylglycerol kinase alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8714964	Dgka	diacylglycerol kinase alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8714964	Dgka	diacylglycerol kinase alpha	gene	DOID:0060058	lymphoma		ISO	RGD:732760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8714964	Dgka	diacylglycerol kinase alpha	gene	DOID:10534	stomach cancer		ISO	RGD:732760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8714964	Dgka	diacylglycerol kinase alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8714964	Dgka	diacylglycerol kinase alpha	gene	DOID:1115	sarcoma		ISO	RGD:732760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8714964	Dgka	diacylglycerol kinase alpha	gene	DOID:1470	major depressive disorder		ISO	RGD:732760	D	RGD:9068941	20260305	RGD		mRNA:decreased expression:blood	PMID:25226551|REF_RGD_ID:634888054
8714964	Dgka	diacylglycerol kinase alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8714964	Dgka	diacylglycerol kinase alpha	gene	DOID:3275	thymoma		ISO	RGD:732760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8714964	Dgka	diacylglycerol kinase alpha	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8714964	Dgka	diacylglycerol kinase alpha	gene	DOID:4362	cervical cancer		ISO	RGD:732760	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8714964	Dgka	diacylglycerol kinase alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:732760	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8714964	Dgka	diacylglycerol kinase alpha	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8714964	Dgka	diacylglycerol kinase alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714964	Dgka	diacylglycerol kinase alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8714964	Dgka	diacylglycerol kinase alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8714964	Dgka	diacylglycerol kinase alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8714999	Dtna	dystrobrevin alpha	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:24033266|PMID:28492532
8714999	Dtna	dystrobrevin alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8714999	Dtna	dystrobrevin alpha	gene	DOID:0061184	myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2		ISO	RGD:1343196	D	RGD:7240710	20241030	OMIM			
8714999	Dtna	dystrobrevin alpha	gene	DOID:0061184	myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2		ISO	RGD:1343196	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DTNA-related disorder | ClinVar Annotator: match by term: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS 2	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34935411
8714999	Dtna	dystrobrevin alpha	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1343196	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:28492532
8714999	Dtna	dystrobrevin alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8714999	Dtna	dystrobrevin alpha	gene	DOID:1115	sarcoma		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8714999	Dtna	dystrobrevin alpha	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	
8714999	Dtna	dystrobrevin alpha	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1343196	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532
8714999	Dtna	dystrobrevin alpha	gene	DOID:1324	lung cancer		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8714999	Dtna	dystrobrevin alpha	gene	DOID:1682	congenital heart disease		ISO	RGD:1343196	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: congenital heart disease	PMID:25741868|PMID:28492532
8714999	Dtna	dystrobrevin alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8714999	Dtna	dystrobrevin alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8714999	Dtna	dystrobrevin alpha	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8714999	Dtna	dystrobrevin alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1343196	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
8714999	Dtna	dystrobrevin alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8714999	Dtna	dystrobrevin alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8714999	Dtna	dystrobrevin alpha	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1343196	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:21520333|PMID:25741868|PMID:28492532
8714999	Dtna	dystrobrevin alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8714999	Dtna	dystrobrevin alpha	gene	DOID:9007288	Left Ventricular Noncompaction 1		ISO	RGD:1343196	D	RGD:7240710	20180425	OMIM			
8714999	Dtna	dystrobrevin alpha	gene	DOID:9007288	Left Ventricular Noncompaction 1		ISO	RGD:1343196	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 | ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: Left ventricular noncompaction 1	PMID:11238270|PMID:16199547|PMID:17576681|PMID:23861362|PMID:24014171|PMID:24033266|PMID:25305078|PMID:25741868|PMID:28492532|PMID:29247119|PMID:32746448|PMID:33500567|PMID:33789662|PMID:34935411|PMID:35087879|PMID:35148685|PMID:36178741|PMID:9536098
8714999	Dtna	dystrobrevin alpha	gene	DOID:9009406	Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis		ISO	RGD:1343196	D	RGD:8554872	20251209	ClinVar		ClinVar Annotator: match by term: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis	PMID:25741868|PMID:36799992
8714999	Dtna	dystrobrevin alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8714999	Dtna	dystrobrevin alpha	gene	DOID:9849	Meniere's disease		ISO	RGD:1343196	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Meniere disease	PMID:25305078|PMID:25741868|PMID:28492532
8715082	Znf282	zinc finger protein 282	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8715082	Znf282	zinc finger protein 282	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8715082	Znf282	zinc finger protein 282	gene	DOID:1115	sarcoma		ISO	RGD:1314806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8715082	Znf282	zinc finger protein 282	gene	DOID:1909	melanoma		ISO	RGD:1314806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8715082	Znf282	zinc finger protein 282	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8715082	Znf282	zinc finger protein 282	gene	DOID:3275	thymoma		ISO	RGD:1314806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8715082	Znf282	zinc finger protein 282	gene	DOID:4362	cervical cancer		ISO	RGD:1314806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8715082	Znf282	zinc finger protein 282	gene	DOID:5041	esophageal cancer		ISO	RGD:1314806	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8715082	Znf282	zinc finger protein 282	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715082	Znf282	zinc finger protein 282	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8715082	Znf282	zinc finger protein 282	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8715103	Oxnad1	oxidoreductase NAD binding domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8715103	Oxnad1	oxidoreductase NAD binding domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8715103	Oxnad1	oxidoreductase NAD binding domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1603935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8715103	Oxnad1	oxidoreductase NAD binding domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8715103	Oxnad1	oxidoreductase NAD binding domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1603935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8715103	Oxnad1	oxidoreductase NAD binding domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8715103	Oxnad1	oxidoreductase NAD binding domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8715118	Abi1	abl interactor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8715118	Abi1	abl interactor 1	gene	DOID:1324	lung cancer		ISO	RGD:1604650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8715118	Abi1	abl interactor 1	gene	DOID:1909	melanoma		ISO	RGD:1604650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8715118	Abi1	abl interactor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8715118	Abi1	abl interactor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715118	Abi1	abl interactor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8715118	Abi1	abl interactor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8715118	Abi1	abl interactor 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1604650	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8715118	Abi1	abl interactor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8715118	Abi1	abl interactor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8715172	Rhobtb3	Rho related BTB domain containing 3	gene	DOID:0080600	COVID-19		ISO	RGD:1323267	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8715172	Rhobtb3	Rho related BTB domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1323267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8715172	Rhobtb3	Rho related BTB domain containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8715172	Rhobtb3	Rho related BTB domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715172	Rhobtb3	Rho related BTB domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8715172	Rhobtb3	Rho related BTB domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8715172	Rhobtb3	Rho related BTB domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8715189	Pde6c	phosphodiesterase 6C	gene	DOID:0050795	cone dystrophy		ISO	RGD:1320406	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Cone dystrophy	PMID:25741868|PMID:36909829
8715189	Pde6c	phosphodiesterase 6C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8715189	Pde6c	phosphodiesterase 6C	gene	DOID:13911	achromatopsia		ISO	RGD:1320406	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Achromatopsia	PMID:10393054|PMID:16199547|PMID:17576681|PMID:18614542|PMID:19887631|PMID:23776498|PMID:25741868|PMID:26103963|PMID:28492532|PMID:28704108|PMID:30080950|PMID:33001157|PMID:33546218|PMID:9536098
8715189	Pde6c	phosphodiesterase 6C	gene	DOID:4362	cervical cancer		ISO	RGD:1320406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8715189	Pde6c	phosphodiesterase 6C	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8715189	Pde6c	phosphodiesterase 6C	gene	DOID:5041	esophageal cancer		ISO	RGD:1320406	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8715189	Pde6c	phosphodiesterase 6C	gene	DOID:5723	optic atrophy		ISO	RGD:1320406	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8715189	Pde6c	phosphodiesterase 6C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715189	Pde6c	phosphodiesterase 6C	gene	DOID:630	genetic disease		ISO	RGD:1320406	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8715189	Pde6c	phosphodiesterase 6C	gene	DOID:670	amphetamine abuse		ISO	RGD:1320406	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
8715189	Pde6c	phosphodiesterase 6C	gene	DOID:8501	fundus dystrophy		ISO	RGD:1320406	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:19887631|PMID:23776498|PMID:24148654|PMID:25741868|PMID:26103963|PMID:26747767|PMID:28492532|PMID:30080950|PMID:3182623|PMID:31964843|PMID:32531858|PMID:39287548
8715189	Pde6c	phosphodiesterase 6C	gene	DOID:9003656	Achromatopsia 1		ISO	RGD:1320406	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rod monochromatism	PMID:25741868|PMID:28492532
8715189	Pde6c	phosphodiesterase 6C	gene	DOID:9007377	Achromatopsia 5		ISO	RGD:1320406	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ACHROMATOPSIA 5	PMID:16199547|PMID:19615668|PMID:19887631|PMID:23776498|PMID:25741868|PMID:26103963|PMID:28492532|PMID:30080950|PMID:31964843|PMID:35260635
8715189	Pde6c	phosphodiesterase 6C	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1320406	D	RGD:8554872	20220426	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868
8715189	Pde6c	phosphodiesterase 6C	gene	DOID:9008571	Cone Dystrophy 4		ISO	RGD:1320406	D	RGD:7240710	20180130	OMIM			
8715189	Pde6c	phosphodiesterase 6C	gene	DOID:9008571	Cone Dystrophy 4		ISO	RGD:1320406	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CONE DYSTROPHY 4 | ClinVar Annotator: match by term: Cone dystrophy 4 | ClinVar Annotator: match by term: PDE6C-related condition	PMID:16199547|PMID:19615668|PMID:19887631|PMID:20301591|PMID:21127010|PMID:23776498|PMID:25326637|PMID:25741868|PMID:26103963|PMID:28492532|PMID:30080950|PMID:31964843|PMID:32913385
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:25741868
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:0060825	Christianson syndrome		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angelman-like syndrome	PMID:25741868
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:0111481	combined oxidative phosphorylation deficiency 11		ISO	RGD:1319942	D	RGD:7240710	20180130	OMIM			
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:0111481	combined oxidative phosphorylation deficiency 11		ISO	RGD:1319942	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11 | ClinVar Annotator: match by term: RMND1-related condition	PMID:17576681|PMID:24033266|PMID:25058219|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:28939701|PMID:29671881|PMID:31506229|PMID:31568715|PMID:32576985|PMID:35368817|PMID:9536098
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:10907	microcephaly		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:28492532
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:12712	nephronophthisis		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:1657	ventricular septal defect		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:28492532
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:23022099
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:1909	melanoma		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:480	movement disease		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1319942	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:552	pneumonia		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:28492532
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:557	kidney disease		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:630	genetic disease		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25058219|PMID:25741868|PMID:27412952|PMID:28492532|PMID:29071585|PMID:9536098
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1319942	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	PMID:23022098|PMID:25604853|PMID:25741868|PMID:26238252|PMID:27412952|PMID:28492532|PMID:29071585
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:28492532
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:9004538	Hearing Loss		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319942	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:27412952|PMID:28492532|PMID:29071585
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319942	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8715218	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:9834	hyperopia		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
8715245	Zfc3h1	zinc finger C3H1-type containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8715245	Zfc3h1	zinc finger C3H1-type containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8715245	Zfc3h1	zinc finger C3H1-type containing	gene	DOID:10534	stomach cancer		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8715245	Zfc3h1	zinc finger C3H1-type containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8715245	Zfc3h1	zinc finger C3H1-type containing	gene	DOID:1115	sarcoma		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8715245	Zfc3h1	zinc finger C3H1-type containing	gene	DOID:1324	lung cancer		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8715245	Zfc3h1	zinc finger C3H1-type containing	gene	DOID:1909	melanoma		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8715245	Zfc3h1	zinc finger C3H1-type containing	gene	DOID:3275	thymoma		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8715245	Zfc3h1	zinc finger C3H1-type containing	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8715245	Zfc3h1	zinc finger C3H1-type containing	gene	DOID:4362	cervical cancer		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8715245	Zfc3h1	zinc finger C3H1-type containing	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8715245	Zfc3h1	zinc finger C3H1-type containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1606690	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8715245	Zfc3h1	zinc finger C3H1-type containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715245	Zfc3h1	zinc finger C3H1-type containing	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1606690	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8715245	Zfc3h1	zinc finger C3H1-type containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8715245	Zfc3h1	zinc finger C3H1-type containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8715245	Zfc3h1	zinc finger C3H1-type containing	gene	DOID:9007661	Dwarfism		ISO	RGD:1606690	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
8715245	Zfc3h1	zinc finger C3H1-type containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8715245	Zfc3h1	zinc finger C3H1-type containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:0080384	nephrotic syndrome type 6		ISO	RGD:731757	D	RGD:7240710	20180130	OMIM			
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:0080384	nephrotic syndrome type 6		ISO	RGD:731757	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 6 | ClinVar Annotator: match by term: Nephrotic syndrome, type 6 | ClinVar Annotator: match by term: PTPRO-related condition	PMID:25741868|PMID:28492532
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:0080600	COVID-19		ISO	RGD:731757	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:10534	stomach cancer		ISO	RGD:731757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:1115	sarcoma		ISO	RGD:731757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:1324	lung cancer		ISO	RGD:731757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:1909	melanoma		ISO	RGD:731757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:3275	thymoma		ISO	RGD:731757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:4362	cervical cancer		ISO	RGD:731757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:5041	esophageal cancer		ISO	RGD:731757	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:9000363	Hematuria		ISO	RGD:731757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematuria	PMID:25741868
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731757	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:731757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:731757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:731757	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941|PMID:20163174
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8715298	Ptpro	protein tyrosine phosphatase receptor type O	gene	DOID:9256	colorectal cancer		ISO	RGD:731757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8715336	Perp	p53 apoptosis effector related to PMP22	gene	DOID:5041	esophageal cancer		ISO	RGD:1321113	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8715336	Perp	p53 apoptosis effector related to PMP22	gene	DOID:630	genetic disease		ISO	RGD:1321113	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8715336	Perp	p53 apoptosis effector related to PMP22	gene	DOID:9000198	Erythrokeratodermia Variabilis et Progressiva 7		ISO	RGD:1321113	D	RGD:7240710	20210303	OMIM			
8715336	Perp	p53 apoptosis effector related to PMP22	gene	DOID:9000198	Erythrokeratodermia Variabilis et Progressiva 7		ISO	RGD:1321113	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7 | ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 7 | ClinVar Annotator: match by term: PERP-related condition	
8715336	Perp	p53 apoptosis effector related to PMP22	gene	DOID:9008575	Olmsted Syndrome 2		ISO	RGD:1321113	D	RGD:7240710	20210303	OMIM			
8715336	Perp	p53 apoptosis effector related to PMP22	gene	DOID:9008575	Olmsted Syndrome 2		ISO	RGD:1321113	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OLMSTED SYNDROME 2	
8715372	Aass	aminoadipate-semialdehyde synthase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8715372	Aass	aminoadipate-semialdehyde synthase	gene	DOID:1059	intellectual disability		ISO	RGD:1321929	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8715372	Aass	aminoadipate-semialdehyde synthase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8715372	Aass	aminoadipate-semialdehyde synthase	gene	DOID:1115	sarcoma		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8715372	Aass	aminoadipate-semialdehyde synthase	gene	DOID:1324	lung cancer		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8715372	Aass	aminoadipate-semialdehyde synthase	gene	DOID:1909	melanoma		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8715372	Aass	aminoadipate-semialdehyde synthase	gene	DOID:3275	thymoma		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8715372	Aass	aminoadipate-semialdehyde synthase	gene	DOID:4362	cervical cancer		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8715372	Aass	aminoadipate-semialdehyde synthase	gene	DOID:5041	esophageal cancer		ISO	RGD:1321929	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8715372	Aass	aminoadipate-semialdehyde synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715372	Aass	aminoadipate-semialdehyde synthase	gene	DOID:630	genetic disease		ISO	RGD:1321929	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:36413997
8715372	Aass	aminoadipate-semialdehyde synthase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8715372	Aass	aminoadipate-semialdehyde synthase	gene	DOID:9002093	Lysine Intolerance		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lysine intolerance	PMID:28492532
8715372	Aass	aminoadipate-semialdehyde synthase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8715372	Aass	aminoadipate-semialdehyde synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8715372	Aass	aminoadipate-semialdehyde synthase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1321929	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8715372	Aass	aminoadipate-semialdehyde synthase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8715372	Aass	aminoadipate-semialdehyde synthase	gene	DOID:9274	hyperlysinemia		ISO	RGD:1321929	D	RGD:7240710	20180130	OMIM			
8715372	Aass	aminoadipate-semialdehyde synthase	gene	DOID:9274	hyperlysinemia		ISO	RGD:1321929	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AASS-related disorder | ClinVar Annotator: match by term: HYPERLYSINEMIA, TYPE I | ClinVar Annotator: match by term: Hyperlysinemia | ClinVar Annotator: match by term: hyperlysinemia	PMID:23570448|PMID:25741868|PMID:28492532|PMID:36983702
8715403	Cdk18	cyclin dependent kinase 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8715403	Cdk18	cyclin dependent kinase 18	gene	DOID:0060058	lymphoma		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8715403	Cdk18	cyclin dependent kinase 18	gene	DOID:10534	stomach cancer		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8715403	Cdk18	cyclin dependent kinase 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8715403	Cdk18	cyclin dependent kinase 18	gene	DOID:1115	sarcoma		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8715403	Cdk18	cyclin dependent kinase 18	gene	DOID:1324	lung cancer		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8715403	Cdk18	cyclin dependent kinase 18	gene	DOID:1909	melanoma		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8715403	Cdk18	cyclin dependent kinase 18	gene	DOID:4362	cervical cancer		ISO	RGD:1319906	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8715403	Cdk18	cyclin dependent kinase 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1319906	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8715403	Cdk18	cyclin dependent kinase 18	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8715403	Cdk18	cyclin dependent kinase 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715403	Cdk18	cyclin dependent kinase 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8715403	Cdk18	cyclin dependent kinase 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8715403	Cdk18	cyclin dependent kinase 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8715438	Peli3	pellino E3 ubiquitin protein ligase family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1605259	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8715438	Peli3	pellino E3 ubiquitin protein ligase family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8715438	Peli3	pellino E3 ubiquitin protein ligase family member 3	gene	DOID:1909	melanoma		ISO	RGD:1605259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8715438	Peli3	pellino E3 ubiquitin protein ligase family member 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1605259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8715454	Akap1	A-kinase anchoring protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8715454	Akap1	A-kinase anchoring protein 1	gene	DOID:10283	prostate cancer		ISO	RGD:1343676	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8715454	Akap1	A-kinase anchoring protein 1	gene	DOID:10283	prostate cancer		ISO	RGD:1343676	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8715454	Akap1	A-kinase anchoring protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1343676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8715454	Akap1	A-kinase anchoring protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8715454	Akap1	A-kinase anchoring protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1343676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8715454	Akap1	A-kinase anchoring protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1343676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8715454	Akap1	A-kinase anchoring protein 1	gene	DOID:1909	melanoma		ISO	RGD:1343676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8715454	Akap1	A-kinase anchoring protein 1	gene	DOID:2316	brain ischemia		ISO	RGD:620826	D	RGD:9068941	20200609	RGD		protein:altered expression:parietal cortex, hippocampus (rat)	PMID:18323779|REF_RGD_ID:2313128
8715454	Akap1	A-kinase anchoring protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8715454	Akap1	A-kinase anchoring protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8715454	Akap1	A-kinase anchoring protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1343676	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8715454	Akap1	A-kinase anchoring protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715454	Akap1	A-kinase anchoring protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8715454	Akap1	A-kinase anchoring protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8715454	Akap1	A-kinase anchoring protein 1	gene	DOID:9970	obesity		ISO	RGD:1343676	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20975297
8715479	Itgb2	integrin subunit beta 2	gene	DOID:0040084	Streptococcus pneumonia	susceptibility	ISO	RGD:1313695	D	RGD:9068941	20210709	RGD			PMID:11390487|REF_RGD_ID:127345090
8715479	Itgb2	integrin subunit beta 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8715479	Itgb2	integrin subunit beta 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8715479	Itgb2	integrin subunit beta 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8715479	Itgb2	integrin subunit beta 2	gene	DOID:0060180	colitis		ISO	RGD:1313695	D	RGD:9068941	20200609	RGD		associated with Spirochaetales infections	PMID:11031123|REF_RGD_ID:6482227
8715479	Itgb2	integrin subunit beta 2	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1313694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16764927
8715479	Itgb2	integrin subunit beta 2	gene	DOID:0110910	leukocyte adhesion deficiency 1		ISO	RGD:1313694	D	RGD:7240710	20180130	OMIM			
8715479	Itgb2	integrin subunit beta 2	gene	DOID:0110910	leukocyte adhesion deficiency 1		ISO	RGD:1313694	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LEUKOCYTE ADHESION DEFICIENCY 1 | ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 | ClinVar Annotator: match by term: Leukocyte adhesion deficiency type 1 | ClinVar Annotator: match by term: Lymphocyte function-associated antigen 1 immunodeficiency	PMID:11703376|PMID:11882363|PMID:12377933|PMID:12488604|PMID:12749013|PMID:1346613|PMID:1347532|PMID:14512306|PMID:1590804|PMID:16199547|PMID:17576681|PMID:17875809|PMID:18675632|PMID:19171538|PMID:1968911|PMID:20549317|PMID:20807363|PMID:21195692|PMID:22134107|PMID:24033266|PMID:24338230|PMID:25135596|PMID:25514840|PMID:25703682|PMID:25741868|PMID:25858935|PMID:26497373|PMID:26639818|PMID:27492259|PMID:28445705|PMID:28492532|PMID:29548898|PMID:30041527|PMID:30919141|PMID:32279896|PMID:33391282|PMID:34333755|PMID:36353617|PMID:36696755|PMID:37002583|PMID:38096369|PMID:7509236|PMID:7705401|PMID:7901025|PMID:9536098|PMID:9884339
8715479	Itgb2	integrin subunit beta 2	gene	DOID:0110910	leukocyte adhesion deficiency 1	susceptibility	ISO	RGD:1313694	D	RGD:9068941	20210702	RGD		DNA:polymorphisms:multiple (human)	PMID:20549317|REF_RGD_ID:6482224
8715479	Itgb2	integrin subunit beta 2	gene	DOID:0110912	leukocyte adhesion deficiency 3		ISO	RGD:1313694	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3	PMID:25741868
8715479	Itgb2	integrin subunit beta 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8715479	Itgb2	integrin subunit beta 2	gene	DOID:10952	nephritis	treatment	ISO	RGD:1305581	D	RGD:9068941	20200609	RGD			PMID:8773354|REF_RGD_ID:8547716
8715479	Itgb2	integrin subunit beta 2	gene	DOID:11162	respiratory failure		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532
8715479	Itgb2	integrin subunit beta 2	gene	DOID:11830	myopia		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8715479	Itgb2	integrin subunit beta 2	gene	DOID:1205	allergic disease		ISO	RGD:1313694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8715479	Itgb2	integrin subunit beta 2	gene	DOID:12297	Vogt-Koyanagi-Harada disease		ISO	RGD:1313694	D	RGD:9068941	20200609	RGD		protein:decreased expression:T cell	PMID:21297967|REF_RGD_ID:6482200
8715479	Itgb2	integrin subunit beta 2	gene	DOID:1324	lung cancer		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8715479	Itgb2	integrin subunit beta 2	gene	DOID:13241	Behcet's disease		ISO	RGD:1313694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8712863
8715479	Itgb2	integrin subunit beta 2	gene	DOID:182	calcinosis		ISO	RGD:1313694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
8715479	Itgb2	integrin subunit beta 2	gene	DOID:1909	melanoma		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8715479	Itgb2	integrin subunit beta 2	gene	DOID:2527	nephrosis		ISO	RGD:1313694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12845231
8715479	Itgb2	integrin subunit beta 2	gene	DOID:2723	dermatitis		ISO	RGD:1313694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9653089
8715479	Itgb2	integrin subunit beta 2	gene	DOID:2841	asthma		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
8715479	Itgb2	integrin subunit beta 2	gene	DOID:2921	glomerulonephritis		ISO	RGD:1313695	D	RGD:9068941	20200609	RGD			PMID:15277234|PMID:19752320|REF_RGD_ID:6907051|REF_RGD_ID:6907066
8715479	Itgb2	integrin subunit beta 2	gene	DOID:2938	Epstein-Barr virus infectious disease		ISO	RGD:1313694	D	RGD:9068941	20210702	RGD		associated with Hodgkin's lymphoma;mRNA, protein:increased expression:lymph node (human)	PMID:25041527|REF_RGD_ID:127285814
8715479	Itgb2	integrin subunit beta 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8715479	Itgb2	integrin subunit beta 2	gene	DOID:4079	heart valve disease		ISO	RGD:1313694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
8715479	Itgb2	integrin subunit beta 2	gene	DOID:4247	coronary restenosis		ISO	RGD:1313694	D	RGD:9068941	20200609	RGD			PMID:11703955|REF_RGD_ID:1581185
8715479	Itgb2	integrin subunit beta 2	gene	DOID:4481	allergic rhinitis	treatment	ISO	RGD:1305581	D	RGD:9068941	20210709	RGD			PMID:12046991|REF_RGD_ID:9698435
8715479	Itgb2	integrin subunit beta 2	gene	DOID:4961	bone marrow disease		ISO	RGD:1313694	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	PMID:10886250|PMID:11703376|PMID:12488604|PMID:1346132|PMID:17875809|PMID:22134107|PMID:25514840|PMID:25703682|PMID:25741868|PMID:28492532|PMID:30412664|PMID:7686755|PMID:7705401
8715479	Itgb2	integrin subunit beta 2	gene	DOID:4989	pancreatitis		ISO	RGD:1313695	D	RGD:9068941	20200609	RGD			PMID:22490516|REF_RGD_ID:6482196
8715479	Itgb2	integrin subunit beta 2	gene	DOID:552	pneumonia		ISO	RGD:1305581	D	RGD:9068941	20200609	RGD			PMID:10030843|REF_RGD_ID:6482228
8715479	Itgb2	integrin subunit beta 2	gene	DOID:552	pneumonia		ISO	RGD:1313694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8715479	Itgb2	integrin subunit beta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715479	Itgb2	integrin subunit beta 2	gene	DOID:630	genetic disease		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8715479	Itgb2	integrin subunit beta 2	gene	DOID:6612	leukocyte adhesion deficiency		ISO	RGD:1313694	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:9653089
8715479	Itgb2	integrin subunit beta 2	gene	DOID:6612	leukocyte adhesion deficiency		ISO	RGD:1313694	D	RGD:9068941	20260604	RGD		DNA:deletion, nonsense mutations:exons:1622_1657del, 2200G>T (human)	PMID:14512306|REF_RGD_ID:6482225
8715479	Itgb2	integrin subunit beta 2	gene	DOID:6612	leukocyte adhesion deficiency		ISO	RGD:1313694	D	RGD:9068941	20260604	RGD		DNA:mutation:exon:p.R188X(human)	PMID:21103413|REF_RGD_ID:6482223
8715479	Itgb2	integrin subunit beta 2	gene	DOID:6612	leukocyte adhesion deficiency		ISO	RGD:1313694	D	RGD:9068941	20260604	RGD		DNA:mutations:cds:p.D231H, G284S (human)	PMID:10886250|REF_RGD_ID:6482222
8715479	Itgb2	integrin subunit beta 2	gene	DOID:6612	leukocyte adhesion deficiency		ISO	RGD:1313694	D	RGD:9068941	20260604	RGD		DNA:mutations:multiple	PMID:20549317|REF_RGD_ID:6482224
8715479	Itgb2	integrin subunit beta 2	gene	DOID:6612	leukocyte adhesion deficiency		ISO	RGD:1313694	D	RGD:9068941	20260604	RGD		DNA:point_mutations:CDS:compound heterozygote, amino acid arg593cys and lys196thr	PMID:1968911|REF_RGD_ID:1600220
8715479	Itgb2	integrin subunit beta 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8715479	Itgb2	integrin subunit beta 2	gene	DOID:7998	hyperthyroidism		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
8715479	Itgb2	integrin subunit beta 2	gene	DOID:820	myocarditis		ISO	RGD:1313694	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:9556870|REF_RGD_ID:13702915
8715479	Itgb2	integrin subunit beta 2	gene	DOID:8283	peritonitis	ameliorates	ISO	RGD:620535	D	RGD:9068941	20210709	RGD			PMID:18239087|REF_RGD_ID:127345091
8715479	Itgb2	integrin subunit beta 2	gene	DOID:8549	chronic ulcer of skin		ISO	RGD:1313694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9653089
8715479	Itgb2	integrin subunit beta 2	gene	DOID:8893	psoriasis		ISO	RGD:1313695	D	RGD:9068941	20200609	RGD			PMID:19812597|REF_RGD_ID:6482221
8715479	Itgb2	integrin subunit beta 2	gene	DOID:8893	psoriasis		ISO	RGD:1313695	D	RGD:9068941	20220825	MouseDO		OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106	
8715479	Itgb2	integrin subunit beta 2	gene	DOID:9000146	Plaque, Atherosclerotic		ISO	RGD:1313694	D	RGD:9068941	20200609	RGD		mRNA:increased expression:artery	PMID:26188538|REF_RGD_ID:11085957
8715479	Itgb2	integrin subunit beta 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
8715479	Itgb2	integrin subunit beta 2	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:1313694	D	RGD:9068941	20200609	RGD		mRNA:increased expression:gingival tissues	PMID:21382035|REF_RGD_ID:6480655
8715479	Itgb2	integrin subunit beta 2	gene	DOID:9001341	Chloracne		ISO	RGD:1313694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
8715479	Itgb2	integrin subunit beta 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8715479	Itgb2	integrin subunit beta 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1313694	D	RGD:9068941	20231102	RGD		mRNA:increased expression:nephron tubule (human)	PMID:35592524|REF_RGD_ID:401851916
8715479	Itgb2	integrin subunit beta 2	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1313695	D	RGD:9068941	20200609	RGD			PMID:11907109|REF_RGD_ID:6907072
8715479	Itgb2	integrin subunit beta 2	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1305581	D	RGD:9068941	20200609	RGD			PMID:8881759|REF_RGD_ID:6482229
8715479	Itgb2	integrin subunit beta 2	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1313695	D	RGD:9068941	20200609	RGD			PMID:18615643|REF_RGD_ID:6482197
8715479	Itgb2	integrin subunit beta 2	gene	DOID:9002805	Enterocolitis		ISO	RGD:1313694	D	RGD:9068941	20200609	RGD		associated with Hirschsprung Disease;DNA:polymorphisms:multiple	PMID:18675632|REF_RGD_ID:6482226
8715479	Itgb2	integrin subunit beta 2	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1305581	D	RGD:9068941	20200609	RGD			PMID:1374449|REF_RGD_ID:6482199
8715479	Itgb2	integrin subunit beta 2	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1305581	D	RGD:9068941	20200609	RGD			PMID:11007822|REF_RGD_ID:6907073
8715479	Itgb2	integrin subunit beta 2	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1313694	D	RGD:9068941	20200609	RGD		Associated with renal transplant patients	PMID:20504838|REF_RGD_ID:6907049
8715479	Itgb2	integrin subunit beta 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8715479	Itgb2	integrin subunit beta 2	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1313694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935819
8715479	Itgb2	integrin subunit beta 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8715479	Itgb2	integrin subunit beta 2	gene	DOID:9009184	Eosinophilic Myocarditis	treatment	ISO	RGD:1313695	D	RGD:9068941	20200609	RGD			PMID:9822282|REF_RGD_ID:13702914
8715479	Itgb2	integrin subunit beta 2	gene	DOID:9065	leishmaniasis	ameliorates	ISO	RGD:1313695	D	RGD:9068941	20210702	RGD			PMID:14502280|REF_RGD_ID:127285813
8715479	Itgb2	integrin subunit beta 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8715479	Itgb2	integrin subunit beta 2	gene	DOID:9498	pulmonary eosinophilia		ISO	RGD:1313695	D	RGD:9068941	20210709	RGD		protein:increased expression:lung (mouse)	PMID:7743671|REF_RGD_ID:8547590
8715479	Itgb2	integrin subunit beta 2	gene	DOID:9500	leukocyte disease		ISO	RGD:1313694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2880869|PMID:9653089
8715479	Itgb2	integrin subunit beta 2	gene	DOID:9834	hyperopia		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
8715509	CUNH22orf23	chromosome unknown C22orf23 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8715509	CUNH22orf23	chromosome unknown C22orf23 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1351784	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8715509	CUNH22orf23	chromosome unknown C22orf23 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715509	CUNH22orf23	chromosome unknown C22orf23 homolog	gene	DOID:6039	uveal melanoma		ISO	RGD:1351784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8715528	Otoa	otoancorin	gene	DOID:0050439	Usher syndrome		ISO	RGD:1348640	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Usher's syndrome	PMID:23173898|PMID:24033266|PMID:25741868|PMID:28492532
8715528	Otoa	otoancorin	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1348640	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Non-syndromic genetic deafness	PMID:24033266|PMID:25741868|PMID:28492532
8715528	Otoa	otoancorin	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1348640	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:24033266|PMID:28492532
8715528	Otoa	otoancorin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8715528	Otoa	otoancorin	gene	DOID:0080833	laryngomalacia		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:28492532
8715528	Otoa	otoancorin	gene	DOID:0110480	autosomal recessive nonsyndromic deafness 22		ISO	RGD:1348640	D	RGD:7240710	20180130	OMIM			
8715528	Otoa	otoancorin	gene	DOID:0110480	autosomal recessive nonsyndromic deafness 22		ISO	RGD:1348640	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 22 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 22 | ClinVar Annotator: match by term: Deafness, autosomal recessive 22 | ClinVar Annotator: match by term: OTOA-related condition	PMID:11972037|PMID:16199547|PMID:17576681|PMID:23173898|PMID:24033266|PMID:24963352|PMID:25373420|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28492532|PMID:29044474|PMID:29196752|PMID:30311386|PMID:30740825|PMID:30828794|PMID:31152317|PMID:31527525|PMID:31827275|PMID:33597575|PMID:33879512|PMID:34416374|PMID:34519870|PMID:35802133|PMID:36633841|PMID:37114731|PMID:9536098
8715528	Otoa	otoancorin	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	
8715528	Otoa	otoancorin	gene	DOID:10534	stomach cancer		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8715528	Otoa	otoancorin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348640	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:24033266|PMID:28492532
8715528	Otoa	otoancorin	gene	DOID:11111	hydronephrosis		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:28492532
8715528	Otoa	otoancorin	gene	DOID:11383	cryptorchidism		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:28492532
8715528	Otoa	otoancorin	gene	DOID:13994	cleidocranial dysplasia		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Large fontanelles	PMID:28492532
8715528	Otoa	otoancorin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8715528	Otoa	otoancorin	gene	DOID:3070	high grade glioma		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8715528	Otoa	otoancorin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8715528	Otoa	otoancorin	gene	DOID:630	genetic disease		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26969326|PMID:28492532|PMID:38844983
8715528	Otoa	otoancorin	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:28492532
8715528	Otoa	otoancorin	gene	DOID:9004538	Hearing Loss		ISO	RGD:1348640	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:24033266|PMID:25741868|PMID:28492532
8715528	Otoa	otoancorin	gene	DOID:9007817	Macroglossia		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:28492532
8715528	Otoa	otoancorin	gene	DOID:9007966	Nonsyndromic Sensorineural Hearing Loss		ISO	RGD:1348640	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Nonsyndromic sensorineural hearing loss	PMID:25741868
8715528	Otoa	otoancorin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8715528	Otoa	otoancorin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8715599	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8715599	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:0080575	Larsen-like syndrome B3GAT3 type		ISO	RGD:1323698	D	RGD:7240710	20180307	OMIM			
8715599	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:0080575	Larsen-like syndrome B3GAT3 type		ISO	RGD:1323698	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type | ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS	PMID:16199547|PMID:17576681|PMID:21763480|PMID:25741868|PMID:25893793|PMID:26086840|PMID:26633542|PMID:27271787|PMID:27871226|PMID:28229453|PMID:28492532|PMID:28771243|PMID:31196143|PMID:31438591|PMID:31988067|PMID:34537402|PMID:35000503|PMID:9536098
8715599	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:11111	hydronephrosis		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:16815917|PMID:25741868
8715599	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:1909	melanoma		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8715599	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:16815917|PMID:25741868
8715599	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:3275	thymoma		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8715599	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8715599	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8715599	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:630	genetic disease		ISO	RGD:1323698	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:35000503
8715599	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	PMID:16815917|PMID:25741868
8715599	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8715599	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:9008189	Pyelectasis		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:16815917|PMID:25741868
8715599	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1323698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16759393
8715599	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8715608	Olig2	oligodendrocyte transcription factor 2	gene	DOID:1824	status epilepticus		ISO	RGD:1307098	D	RGD:9068941	20201218	RGD		mRNA, protein:decreased expression:white matter of cerebral lobe	PMID:31415741|REF_RGD_ID:40902837
8715608	Olig2	oligodendrocyte transcription factor 2	gene	DOID:630	genetic disease		ISO	RGD:1316088	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11337472|PMID:27479843
8715608	Olig2	oligodendrocyte transcription factor 2	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:1307098	D	RGD:9068941	20201218	RGD			PMID:22173726|REF_RGD_ID:40902844
8715608	Olig2	oligodendrocyte transcription factor 2	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:1316089	D	RGD:9068941	20201218	RGD			PMID:28452182|REF_RGD_ID:40902836
8715608	Olig2	oligodendrocyte transcription factor 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1316088	D	RGD:9068941	20201211	RGD		associated with breast cancer	PMID:27340107|REF_RGD_ID:40902824
8715608	Olig2	oligodendrocyte transcription factor 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:1307098	D	RGD:9068941	20201218	RGD			PMID:29682587|REF_RGD_ID:40902863
8715608	Olig2	oligodendrocyte transcription factor 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:1316089	D	RGD:9068941	20201211	RGD			PMID:24941845|REF_RGD_ID:40902822
8715608	Olig2	oligodendrocyte transcription factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8715608	Olig2	oligodendrocyte transcription factor 2	gene	DOID:9009105	HIV Encephalitis		ISO	RGD:1316088	D	RGD:9068941	20201211	RGD			PMID:15579294|REF_RGD_ID:40902823
8715608	Olig2	oligodendrocyte transcription factor 2	gene	DOID:9790	toxocariasis		ISO	RGD:1316089	D	RGD:9068941	20201211	RGD			PMID:25773181|REF_RGD_ID:40902825
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0060058	lymphoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0060539	Hermansky-Pudlak syndrome 1		ISO	RGD:1321051	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	PMID:25741868|PMID:28492532
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0060540	Hermansky-Pudlak syndrome 2		ISO	RGD:1321051	D	RGD:7240710	20180130	OMIM			
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0060540	Hermansky-Pudlak syndrome 2		ISO	RGD:1321051	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HERMANSKY-PUDLAK SYNDROME 2 | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 | ClinVar Annotator: match by term: Platelet defects and oculocutaneous albinism	PMID:11809908|PMID:14566336|PMID:16199547|PMID:16507770|PMID:16537806|PMID:17576681|PMID:23403622|PMID:24033266|PMID:25741868|PMID:25980904|PMID:27781387|PMID:28132693|PMID:28492532|PMID:31898847|PMID:32935436|PMID:33217554|PMID:33718801|PMID:9536098
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0111962	combined immunodeficiency		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency	PMID:25741868|PMID:28492532
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:10283	prostate cancer		ISO	RGD:1321051	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:28492532
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:10283	prostate cancer		ISO	RGD:1321051	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	PMID:28492532
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:1059	intellectual disability		ISO	RGD:1321051	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:1115	sarcoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:1227	neutropenia		ISO	RGD:1321051	D	RGD:9068941	20200609	RGD			PMID:12125811|REF_RGD_ID:1578409
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:12450	pancytopenia		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:25741868
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:1324	lung cancer		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1321051	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:28492532|PMID:32935436
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:1909	melanoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1321051	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:25741868|PMID:28492532|PMID:32935436
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:2223	platelet storage pool deficiency		ISO	RGD:1321052	D	RGD:9068941	20220825	MouseDO		OMIM:185050	
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1321051	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:24033266|PMID:25741868|PMID:28492532|PMID:31898847
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:3082	interstitial lung disease		ISO	RGD:1321051	D	RGD:9068941	20200609	RGD		associated with Hermansky-Pudlak Syndrome 2;DNA:snps, missense mutation, nonsense mutations:exons, introns:multiple (human)	PMID:22009278|REF_RGD_ID:11096518
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hermansky-Pudlak syndrome	PMID:16507770|PMID:23403622|PMID:25741868|PMID:28492532|PMID:31898847
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1321051	D	RGD:9068941	20200609	RGD			PMID:12125811|REF_RGD_ID:1578409
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:5339	cyclic hematopoiesis		ISO	RGD:12137585	D	RGD:9068941	20230921	OMIA		Neutropenia, cyclic	PMID:1013155|PMID:1167851|PMID:1251140|PMID:1259228|PMID:12750178|PMID:127610|PMID:12897784|PMID:1379221|PMID:15059607|PMID:15576359|PMID:16610934|PMID:1699776|PMID:17053055|PMID:173440|PMID:1893969|PMID:18951469|PMID:19208418|PMID:19941936|PMID:2172633|PMID:22285163|PMID:22845776|PMID:2458781|PMID:2830927|PMID:2945680|PMID:2979797|PMID:3026784|PMID:3181344|PMID:336117|PMID:347941|PMID:3491636|PMID:351627|PMID:35904319|PMID:3607647|PMID:37673175|PMID:3996494|PMID:4170467|PMID:438337|PMID:4430726|PMID:4587264|PMID:4591036|PMID:4612548|PMID:4703853|PMID:47249|PMID:4795953|PMID:4796766|PMID:4834515|PMID:5054471|PMID:5054472|PMID:5366324|PMID:5529685|PMID:5534257|PMID:5581910|PMID:568046|PMID:6067150|PMID:6096876|PMID:6506453|PMID:6759148|PMID:6803622|PMID:6837566|PMID:6846503|PMID:6853718|PMID:686147|PMID:6884440|PMID:6972315|PMID:6976196|PMID:7011123|PMID:7059519|PMID:7060078|PMID:7066210|PMID:710550|PMID:719169|PMID:7281477|PMID:7350939|PMID:738429|PMID:738763|PMID:7405719|PMID:7474871|PMID:7519075|PMID:7528575|PMID:8737267|PMID:955040|PMID:995965
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:630	genetic disease		ISO	RGD:1321051	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:718	autoimmune hemolytic anemia		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoimmune hemolytic anemia	PMID:25741868|PMID:28492532
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoimmune thrombocytopenia	PMID:25741868|PMID:28492532
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8715614	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8715665	Dcp2	decapping mRNA 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8715665	Dcp2	decapping mRNA 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8715665	Dcp2	decapping mRNA 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8715665	Dcp2	decapping mRNA 2	gene	DOID:1115	sarcoma		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8715665	Dcp2	decapping mRNA 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8715665	Dcp2	decapping mRNA 2	gene	DOID:4362	cervical cancer		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8715665	Dcp2	decapping mRNA 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8715665	Dcp2	decapping mRNA 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1349747	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8715665	Dcp2	decapping mRNA 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715665	Dcp2	decapping mRNA 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8715665	Dcp2	decapping mRNA 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8715665	Dcp2	decapping mRNA 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349747	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
8715665	Dcp2	decapping mRNA 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8715665	Dcp2	decapping mRNA 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8715687	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8715687	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8715687	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:1115	sarcoma		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8715687	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:1324	lung cancer		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
8715687	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:1909	melanoma		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8715687	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:3275	thymoma		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8715687	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8715687	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318400	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8715687	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8715687	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:9003388	ALFADHEL SYNDROME		ISO	RGD:1318400	D	RGD:7240710	20240117	OMIM			
8715687	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:9003388	ALFADHEL SYNDROME		ISO	RGD:1318400	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALFADHEL SYNDROME | ClinVar Annotator: match by term: Alfadhel syndrome	PMID:25741868
8715687	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8715687	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8715715	Fbxl3	F-box and leucine rich repeat protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8715715	Fbxl3	F-box and leucine rich repeat protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1343078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8715715	Fbxl3	F-box and leucine rich repeat protein 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8715715	Fbxl3	F-box and leucine rich repeat protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715715	Fbxl3	F-box and leucine rich repeat protein 3	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1343078	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy	PMID:18414213|PMID:24767253|PMID:25741868|PMID:28492532
8715715	Fbxl3	F-box and leucine rich repeat protein 3	gene	DOID:9005631	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS		ISO	RGD:1343078	D	RGD:7240710	20190424	OMIM			
8715715	Fbxl3	F-box and leucine rich repeat protein 3	gene	DOID:9005631	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS		ISO	RGD:1343078	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS | ClinVar Annotator: match by term: Intellectual disability, short stature, facial anomalies, and joint dislocations	PMID:25741868
8715726	Sdhaf3	succinate dehydrogenase complex assembly factor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8715726	Sdhaf3	succinate dehydrogenase complex assembly factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715733	Yes1	YES proto-oncogene 1, Src family tyrosine kinase	gene	DOID:0080600	COVID-19		ISO	RGD:1321347	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8715733	Yes1	YES proto-oncogene 1, Src family tyrosine kinase	gene	DOID:1115	sarcoma		ISO	RGD:1321347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8715733	Yes1	YES proto-oncogene 1, Src family tyrosine kinase	gene	DOID:1657	ventricular septal defect		ISO	RGD:1321347	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24478334
8715733	Yes1	YES proto-oncogene 1, Src family tyrosine kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8715733	Yes1	YES proto-oncogene 1, Src family tyrosine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1321347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8715733	Yes1	YES proto-oncogene 1, Src family tyrosine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1321347	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8715733	Yes1	YES proto-oncogene 1, Src family tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715733	Yes1	YES proto-oncogene 1, Src family tyrosine kinase	gene	DOID:6406	double outlet right ventricle		ISO	RGD:1321347	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24478334
8715733	Yes1	YES proto-oncogene 1, Src family tyrosine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8715733	Yes1	YES proto-oncogene 1, Src family tyrosine kinase	gene	DOID:9003191	Vascular Malformations		ISO	RGD:1321347	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24478334
8715733	Yes1	YES proto-oncogene 1, Src family tyrosine kinase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8715733	Yes1	YES proto-oncogene 1, Src family tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8715733	Yes1	YES proto-oncogene 1, Src family tyrosine kinase	gene	DOID:9007023	Prenatal Injuries		ISO	RGD:1321347	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24478334
8715733	Yes1	YES proto-oncogene 1, Src family tyrosine kinase	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1550106	D	RGD:9068941	20230429	RGD		mRNA,protein:increased expression:myocardium (mouse)	PMID:30259997|REF_RGD_ID:329337366
8715733	Yes1	YES proto-oncogene 1, Src family tyrosine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8715752	Rspo2	R-spondin 2	gene	DOID:0112191	tetraamelia syndrome		ISO	RGD:1603855	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Tetraamelia-multiple malformations syndrome	PMID:25741868
8715752	Rspo2	R-spondin 2	gene	DOID:0112193	tetraamelia syndrome 2		ISO	RGD:1603855	D	RGD:7240710	20190605	OMIM			
8715752	Rspo2	R-spondin 2	gene	DOID:0112193	tetraamelia syndrome 2		ISO	RGD:1603855	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: TETRAAMELIA SYNDROME 2 | ClinVar Annotator: match by term: Tetraamelia syndrome 2	PMID:25741868|PMID:28492532|PMID:29769720
8715752	Rspo2	R-spondin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8715752	Rspo2	R-spondin 2	gene	DOID:1324	lung cancer		ISO	RGD:1603855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8715752	Rspo2	R-spondin 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8715752	Rspo2	R-spondin 2	gene	DOID:9002753	Humerofemoral Hypoplasia with Radiotibial Ray Deficiency		ISO	RGD:1603855	D	RGD:7240710	20190717	OMIM			
8715752	Rspo2	R-spondin 2	gene	DOID:9002753	Humerofemoral Hypoplasia with Radiotibial Ray Deficiency		ISO	RGD:1603855	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Humerofemoral hypoplasia with radiotibial ray deficiency | ClinVar Annotator: match by term: RSPO2-related condition	PMID:25741868|PMID:28492532
8715762	Higd1a	HIG1 hypoxia inducible domain family member 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8715762	Higd1a	HIG1 hypoxia inducible domain family member 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:1603666	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8715762	Higd1a	HIG1 hypoxia inducible domain family member 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715762	Higd1a	HIG1 hypoxia inducible domain family member 1A	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8715762	Higd1a	HIG1 hypoxia inducible domain family member 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8715785	Sap30	Sin3A associated protein 30	gene	DOID:0080600	COVID-19		ISO	RGD:1354225	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8715785	Sap30	Sin3A associated protein 30	gene	DOID:10534	stomach cancer		ISO	RGD:1354225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8715785	Sap30	Sin3A associated protein 30	gene	DOID:1909	melanoma		ISO	RGD:1354225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8715785	Sap30	Sin3A associated protein 30	gene	DOID:4362	cervical cancer		ISO	RGD:1354225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8715785	Sap30	Sin3A associated protein 30	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715794	Slc10a1	solute carrier family 10 member 1	gene	DOID:0061182	familial hypercholanemia 2		ISO	RGD:737174	D	RGD:7240710	20210414	OMIM			
8715794	Slc10a1	solute carrier family 10 member 1	gene	DOID:0061182	familial hypercholanemia 2		ISO	RGD:737174	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HYPERCHOLANEMIA, FAMILIAL, 2 | ClinVar Annotator: match by term: Hypercholanemia, familial, 2 | ClinVar Annotator: match by term: SLC10A1-related condition | ClinVar Annotator: match by term: hypercholanemia, familial, 2	PMID:24867799|PMID:25741868|PMID:32101444
8715794	Slc10a1	solute carrier family 10 member 1	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:3681	D	RGD:9068941	20200609	RGD			PMID:27939985|REF_RGD_ID:15036816
8715794	Slc10a1	solute carrier family 10 member 1	gene	DOID:13580	cholestasis		ISO	RGD:737174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:24867799|PMID:25741868
8715794	Slc10a1	solute carrier family 10 member 1	gene	DOID:13580	cholestasis	treatment	ISO	RGD:3681	D	RGD:9068941	20200609	RGD			PMID:29655695|REF_RGD_ID:15090803
8715794	Slc10a1	solute carrier family 10 member 1	gene	DOID:13580	cholestasis	treatment	ISO	RGD:3681	D	RGD:9068941	20200609	RGD		mRNA:altered expression:liver (rat)	PMID:27090119|REF_RGD_ID:15090804
8715794	Slc10a1	solute carrier family 10 member 1	gene	DOID:1909	melanoma		ISO	RGD:737174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8715794	Slc10a1	solute carrier family 10 member 1	gene	DOID:2043	hepatitis B		ISO	RGD:737174	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:25550158
8715794	Slc10a1	solute carrier family 10 member 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
8715794	Slc10a1	solute carrier family 10 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8715794	Slc10a1	solute carrier family 10 member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:3681	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:28827769|REF_RGD_ID:15045609
8715794	Slc10a1	solute carrier family 10 member 1	gene	DOID:9970	obesity	disease_progression	ISO	RGD:3681	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:25612518|REF_RGD_ID:15045599
8715803	Ccrl2	C-C motif chemokine receptor like 2	gene	DOID:0080600	COVID-19		ISO	RGD:1323460	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8715803	Ccrl2	C-C motif chemokine receptor like 2	gene	DOID:37	skin disease		ISO	RGD:1323460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8715803	Ccrl2	C-C motif chemokine receptor like 2	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1323460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8715843	F2rl3	F2R like thrombin or trypsin receptor 3	gene	DOID:13580	cholestasis		ISO	RGD:1351365	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20974703
8715843	F2rl3	F2R like thrombin or trypsin receptor 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1351365	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8715843	F2rl3	F2R like thrombin or trypsin receptor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715843	F2rl3	F2R like thrombin or trypsin receptor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8715843	F2rl3	F2R like thrombin or trypsin receptor 3	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1351365	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20974703
8715843	F2rl3	F2R like thrombin or trypsin receptor 3	gene	DOID:914	peliosis hepatis		ISO	RGD:1351365	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20974703
8715851	Stk26	serine/threonine kinase 26	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8715851	Stk26	serine/threonine kinase 26	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8715851	Stk26	serine/threonine kinase 26	gene	DOID:1324	lung cancer		ISO	RGD:1604356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8715851	Stk26	serine/threonine kinase 26	gene	DOID:1909	melanoma		ISO	RGD:1604356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8715851	Stk26	serine/threonine kinase 26	gene	DOID:3275	thymoma		ISO	RGD:1604356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8715851	Stk26	serine/threonine kinase 26	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8715851	Stk26	serine/threonine kinase 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8715867	Znf644	zinc finger protein 644	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8715867	Znf644	zinc finger protein 644	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8715867	Znf644	zinc finger protein 644	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8715867	Znf644	zinc finger protein 644	gene	DOID:1115	sarcoma		ISO	RGD:1604575	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8715867	Znf644	zinc finger protein 644	gene	DOID:3021	acute kidney failure		ISO	RGD:1604575	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:36052886
8715867	Znf644	zinc finger protein 644	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8715867	Znf644	zinc finger protein 644	gene	DOID:5041	esophageal cancer		ISO	RGD:1604575	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8715867	Znf644	zinc finger protein 644	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715867	Znf644	zinc finger protein 644	gene	DOID:9003525	Myopia 21, Autosomal Dominant		ISO	RGD:1604575	D	RGD:7240710	20180130	OMIM			
8715867	Znf644	zinc finger protein 644	gene	DOID:9003525	Myopia 21, Autosomal Dominant		ISO	RGD:1604575	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MYOPIA 21, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myopia 21, autosomal dominant | ClinVar Annotator: match by term: ZNF644-related condition	PMID:25741868
8715867	Znf644	zinc finger protein 644	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8715918	Frrs1	ferric chelate reductase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1604148	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8715918	Frrs1	ferric chelate reductase 1	gene	DOID:3275	thymoma		ISO	RGD:1604148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8715918	Frrs1	ferric chelate reductase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8715918	Frrs1	ferric chelate reductase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8715918	Frrs1	ferric chelate reductase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715918	Frrs1	ferric chelate reductase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8715918	Frrs1	ferric chelate reductase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8715918	Frrs1	ferric chelate reductase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8715939	St8sia5	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8715939	St8sia5	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	gene	DOID:1909	melanoma		ISO	RGD:1349184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8715939	St8sia5	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715939	St8sia5	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8715939	St8sia5	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1349184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8715958	Tmub1	transmembrane and ubiquitin like domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1349176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8715958	Tmub1	transmembrane and ubiquitin like domain containing 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1349176	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532
8715985	LOC102004351	NADH-cytochrome b5 reductase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8715985	LOC102004351	NADH-cytochrome b5 reductase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8715985	LOC102004351	NADH-cytochrome b5 reductase 1	gene	DOID:1115	sarcoma		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8715985	LOC102004351	NADH-cytochrome b5 reductase 1	gene	DOID:1324	lung cancer		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8715985	LOC102004351	NADH-cytochrome b5 reductase 1	gene	DOID:3275	thymoma		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8715985	LOC102004351	NADH-cytochrome b5 reductase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8715985	LOC102004351	NADH-cytochrome b5 reductase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715985	LOC102004351	NADH-cytochrome b5 reductase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8715985	LOC102004351	NADH-cytochrome b5 reductase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8715985	LOC102004351	NADH-cytochrome b5 reductase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8715985	LOC102004351	NADH-cytochrome b5 reductase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8715985	LOC102004351	NADH-cytochrome b5 reductase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8715985	LOC102004351	NADH-cytochrome b5 reductase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8715985	LOC102004351	NADH-cytochrome b5 reductase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:25741868|PMID:27215383|PMID:28492532|PMID:32573669
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1604612	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar Annotator: match by term: NADH:Q(1) OXIDOREDUCTASE DEFICIENCY	PMID:22200994|PMID:25741868|PMID:25803036|PMID:28492532
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A		ISO	RGD:1604612	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A	PMID:25326637|PMID:25741868|PMID:28492532
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1604612	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:22200994|PMID:25741868|PMID:25803036|PMID:28492532|PMID:36307859
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:0112085	nuclear type mitochondrial complex I deficiency 19		ISO	RGD:1604612	D	RGD:7240710	20190315	OMIM			
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:0112085	nuclear type mitochondrial complex I deficiency 19		ISO	RGD:1604612	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FOXRED1-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 19	PMID:16199547|PMID:20818383|PMID:20858599|PMID:22200994|PMID:25678554|PMID:25741868|PMID:25803036|PMID:28097321|PMID:28492532|PMID:30723688|PMID:31065540|PMID:31434271|PMID:32964447|PMID:33613441|PMID:33726816
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:16199547|PMID:20818383|PMID:20858599|PMID:25741868|PMID:28492532|PMID:32573669
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:1826	epilepsy		ISO	RGD:1604612	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:20818383|PMID:20858599|PMID:22200994|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:3144	cutis laxa		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:22200994|PMID:25741868|PMID:28492532
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:3650	lactic acidosis		ISO	RGD:1604612	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:16199547|PMID:20818383|PMID:20858599|PMID:25741868|PMID:28492532|PMID:31434271
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:3652	Leigh disease		ISO	RGD:1604612	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy	PMID:20818383|PMID:20858599|PMID:25678554|PMID:25741868|PMID:25803036|PMID:28492532|PMID:30723688
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604612	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1604612	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20818383|PMID:20858599|PMID:25741868|PMID:28097321|PMID:28492532|PMID:30723688|PMID:31065540|PMID:32964447|PMID:33726816
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1604612	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: mitochondrial disease	PMID:20818383|PMID:20858599|PMID:22200994|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:890	mitochondrial encephalomyopathy		ISO	RGD:1604612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20858599
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Miscarriage	PMID:22200994|PMID:25741868|PMID:28492532
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:22200994|PMID:25741868|PMID:28492532
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604612	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:16199547|PMID:20818383|PMID:20858599|PMID:22200994|PMID:25741868|PMID:28492532|PMID:31434271
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:9006465	Meconium Ileus		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meconium ileus	PMID:22200994|PMID:25741868|PMID:28492532
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:9007385	Mitochondrial Encephalopathy		ISO	RGD:1604612	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: mitochondrial encephalopathy	PMID:25741868
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604612	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:22200994|PMID:25741868|PMID:28492532
8715999	Foxred1	FAD dependent oxidoreductase domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8716014	Cabp7	calcium binding protein 7	gene	DOID:1909	melanoma		ISO	RGD:1348796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8716021	Ttll4	tubulin tyrosine ligase like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8716021	Ttll4	tubulin tyrosine ligase like 4	gene	DOID:1115	sarcoma		ISO	RGD:1315312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8716021	Ttll4	tubulin tyrosine ligase like 4	gene	DOID:1324	lung cancer		ISO	RGD:1315312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8716021	Ttll4	tubulin tyrosine ligase like 4	gene	DOID:1909	melanoma		ISO	RGD:1315312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8716021	Ttll4	tubulin tyrosine ligase like 4	gene	DOID:3275	thymoma		ISO	RGD:1315312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8716021	Ttll4	tubulin tyrosine ligase like 4	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1315312	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
8716021	Ttll4	tubulin tyrosine ligase like 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1315312	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8716021	Ttll4	tubulin tyrosine ligase like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716021	Ttll4	tubulin tyrosine ligase like 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8716021	Ttll4	tubulin tyrosine ligase like 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8716021	Ttll4	tubulin tyrosine ligase like 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8716021	Ttll4	tubulin tyrosine ligase like 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8716021	Ttll4	tubulin tyrosine ligase like 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8716021	Ttll4	tubulin tyrosine ligase like 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:10521290|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:15937921|PMID:16098014|PMID:17160617|PMID:20301473|PMID:20554533|PMID:23183285|PMID:23427322|PMID:23773996|PMID:23791518|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25741868|PMID:26666848|PMID:26981555|PMID:28492532|PMID:32138288|PMID:32248828
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:0050835	generalized dystonia		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized dystonia	PMID:10521290|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:15937921|PMID:16098014|PMID:17160617|PMID:20301473|PMID:20554533|PMID:23183285|PMID:23427322|PMID:23773996|PMID:23791518|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25741868|PMID:26666848|PMID:26981555|PMID:28492532|PMID:32138288|PMID:32248828
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:28492532
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:0060249	scoliosis		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:10480349|PMID:1052129|PMID:10521290|PMID:10521297|PMID:11349231|PMID:11754101|PMID:12401890|PMID:14639697|PMID:16098014|PMID:16126423|PMID:17160617|PMID:18216017|PMID:19744920|PMID:20301473|PMID:20521171|PMID:21436030|PMID:22505584|PMID:23430855|PMID:24928400|PMID:25149939|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25873482|PMID:26019327|PMID:26666848|PMID:27923633|PMID:28413817|PMID:28492532|PMID:28666962|PMID:28710748|PMID:28776642|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30487145|PMID:30556376|PMID:30665703|PMID:31589614|PMID:31639011|PMID:31980526|PMID:32138288|PMID:33099109|PMID:34572251|PMID:35140266
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:0070111	Niemann-Pick disease type A		ISO	RGD:1318462	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis	PMID:10480349|PMID:10521290|PMID:10521297|PMID:11349231|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:16098014|PMID:16126423|PMID:18216017|PMID:19744920|PMID:20301473|PMID:20521171|PMID:21436030|PMID:22505584|PMID:23430855|PMID:24928400|PMID:25149939|PMID:25236789|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25873482|PMID:26019327|PMID:26666848|PMID:27139891|PMID:27923633|PMID:28413817|PMID:28492532|PMID:28710748|PMID:28776642|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30487145|PMID:30556376|PMID:30665703|PMID:31589614|PMID:31639011|PMID:31980526|PMID:32138288|PMID:33027564|PMID:33099109|PMID:35140266|PMID:36007526
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:0070111	Niemann-Pick disease type A		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis	PMID:10480349|PMID:1052129|PMID:10521290|PMID:10521297|PMID:11349231|PMID:11754101|PMID:12401890|PMID:14639697|PMID:16098014|PMID:16126423|PMID:17160617|PMID:18216017|PMID:19744920|PMID:20301473|PMID:20521171|PMID:21436030|PMID:22505584|PMID:23430855|PMID:24928400|PMID:25149939|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25873482|PMID:26019327|PMID:26666848|PMID:27923633|PMID:28413817|PMID:28492532|PMID:28666962|PMID:28710748|PMID:28776642|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30487145|PMID:30556376|PMID:30665703|PMID:31589614|PMID:31639011|PMID:31980526|PMID:32138288|PMID:33099109|PMID:34572251|PMID:35140266
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:0070112	Niemann-Pick disease type B		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis	PMID:10480349|PMID:1052129|PMID:10521290|PMID:10521297|PMID:11349231|PMID:11754101|PMID:12401890|PMID:14639697|PMID:16098014|PMID:16126423|PMID:17160617|PMID:18216017|PMID:19744920|PMID:20301473|PMID:20521171|PMID:21436030|PMID:22505584|PMID:23430855|PMID:24928400|PMID:25149939|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25873482|PMID:26019327|PMID:26666848|PMID:27923633|PMID:28413817|PMID:28492532|PMID:28666962|PMID:28710748|PMID:28776642|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30487145|PMID:30556376|PMID:30665703|PMID:31589614|PMID:31639011|PMID:31980526|PMID:32138288|PMID:33099109|PMID:34572251|PMID:35140266
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:0070113	Niemann-Pick disease type C1		ISO	RGD:1318462	D	RGD:7240710	20180130	OMIM			
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:0070113	Niemann-Pick disease type C1		ISO	RGD:1318462	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, subacute juvenile form | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form	PMID:10419504|PMID:10480349|PMID:10521290|PMID:10521297|PMID:11182931|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11545687|PMID:11754101|PMID:12205649|PMID:12401890|PMID:12408188|PMID:12554680|PMID:12719428|PMID:12813037|PMID:12955717|PMID:12974729|PMID:14639697|PMID:14970192|PMID:15130691|PMID:15347664|PMID:15459971|PMID:15465421|PMID:15596783|PMID:15774455|PMID:15937921|PMID:16086131|PMID:16098014|PMID:16126423|PMID:16138904|PMID:16143556|PMID:16199547|PMID:16720792|PMID:16778374|PMID:16802107|PMID:17003072|PMID:17160617|PMID:17576681|PMID:17973331|PMID:17989072|PMID:18081003|PMID:18216017|PMID:19013089|PMID:19206179|PMID:19223215|PMID:19252935|PMID:19307542|PMID:19563754|PMID:19609713|PMID:19718781|PMID:19744920|PMID:19900398|PMID:20301473|PMID:20489167|PMID:20521171|PMID:20554533|PMID:20718790|PMID:20826119|PMID:20882348|PMID:20981092|PMID:21245028|PMID:21436030|PMID:21550990|PMID:22065762|PMID:22269206|PMID:22326530|PMID:22476655|PMID:22505584|PMID:22676771|PMID:22704015|PMID:22750297|PMID:22995991|PMID:23142039|PMID:23146215|PMID:23183285|PMID:23427322|PMID:23430855|PMID:23433426|PMID:23453666|PMID:23487299|PMID:23593294|PMID:23597521|PMID:23653225|PMID:23685560|PMID:23711246|PMID:23757202|PMID:23773996|PMID:23774949|PMID:23791518|PMID:23821321|PMID:24001525|PMID:24033266|PMID:24035292|PMID:24178705|PMID:24386122|PMID:24506780|PMID:24570279|PMID:24676439|PMID:24767253|PMID:24891511|PMID:24915861|PMID:24928400|PMID:25071864|PMID:25131710|PMID:25149939|PMID:25236789|PMID:25238906|PMID:25239094|PMID:25326635|PMID:25326637|PMID:25349751|PMID:25425405|PMID:25497598|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25764212|PMID:25873482|PMID:25888393|PMID:25989649|PMID:26019327|PMID:26108224|PMID:26206375|PMID:26255038|PMID:26284228|PMID:26338816|PMID:26467025|PMID:26666848|PMID:26771826|PMID:26788393|PMID:26790753|PMID:26830282|PMID:26910362|PMID:26937389|PMID:26939636|PMID:26981555|PMID:26984608|PMID:27016452|PMID:27139891|PMID:27193329|PMID:27234403|PMID:27238017|PMID:27250337|PMID:27256227|PMID:27288778|PMID:27366019|PMID:27378690|PMID:27528516|PMID:27549128|PMID:27550898|PMID:27581084|PMID:27599728|PMID:27706244|PMID:27792009|PMID:27900365|PMID:27923633|PMID:27928380|PMID:27959697|PMID:28105569|PMID:28130309|PMID:28155026|PMID:28167839|PMID:28193631|PMID:28222799|PMID:28328115|PMID:28387450|PMID:28413817|PMID:28472934|PMID:28480683|PMID:28492532|PMID:28666962|PMID:28703315|PMID:28710748|PMID:28776642|PMID:28784760|PMID:28802248|PMID:28808920|PMID:28865947|PMID:28883878|PMID:29100954|PMID:29165669|PMID:29197565|PMID:29429782|PMID:29453517|PMID:29476731|PMID:29631617|PMID:29971198|PMID:30019023|PMID:30119649|PMID:30153451|PMID:30202070|PMID:30285904|PMID:30487145|PMID:30552426|PMID:30556376|PMID:30609409|PMID:30633340|PMID:30665703|PMID:30737051|PMID:30820861|PMID:30923329|PMID:30985853|PMID:31130284|PMID:31139477|PMID:31296176|PMID:31497485|PMID:31543266|PMID:31589614|PMID:31635081|PMID:31639011|PMID:3165081|PMID:31699992|PMID:31743419|PMID:31754021|PMID:31980526|PMID:32060698|PMID:32138288|PMID:32144825|PMID:32222928|PMID:32248828|PMID:32289814|PMID:32317543|PMID:32482919|PMID:32488064|PMID:32544384|PMID:32709131|PMID:32732226|PMID:32745579|PMID:32860008|PMID:32921771|PMID:32931663|PMID:33021976|PMID:33027564|PMID:33099109|PMID:33138774|PMID:33139814|PMID:33163944|PMID:33258288|PMID:33624863|PMID:3378364|PMID:33947371|PMID:33990640|PMID:34023347|PMID:34296265|PMID:34303826|PMID:34489640|PMID:34712575|PMID:35038048|PMID:35086560|PMID:35861376|PMID:35892469|PMID:36007526|PMID:36325261|PMID:37032242|PMID:4795418|PMID:5465421|PMID:9211849|PMID:9211850|PMID:9245994|PMID:9536098|PMID:9634529|PMID:9744920|PMID:9927649
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:0070113	Niemann-Pick disease type C1		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM | ClinVar Annotator: match by term: NIEMANN-PICK DISEASE, TYPE C1 | ClinVar Annotator: match by term: NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM | ClinVar Annotator: match by term: NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM | ClinVar Annotator: match by term: NPC1 | ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Neurovisceral storage disease with vertical supranuclear ophthalmoplegia | ClinVar Annotator: match by term: Niemann-Pick disease type C1 | ClinVar Annotator: match by term: Niemann-Pick disease with cholesterol esterification block | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1	PMID:10419504|PMID:10480349|PMID:1052129|PMID:10521290|PMID:10521297|PMID:11182931|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11545687|PMID:11754101|PMID:12205649|PMID:12401890|PMID:12408188|PMID:12554680|PMID:12813037|PMID:12955717|PMID:12974729|PMID:14639697|PMID:14970192|PMID:15099022|PMID:15130691|PMID:15347664|PMID:15459971|PMID:15465421|PMID:15465423|PMID:15596783|PMID:15774455|PMID:15937921|PMID:16086131|PMID:16098014|PMID:16126423|PMID:16138904|PMID:16143556|PMID:16199547|PMID:16778374|PMID:16802107|PMID:17003072|PMID:17160617|PMID:17576681|PMID:17876724|PMID:17973331|PMID:17989072|PMID:18081003|PMID:18216017|PMID:19013089|PMID:19206179|PMID:19223215|PMID:19252935|PMID:19307542|PMID:19563754|PMID:19609713|PMID:19718781|PMID:19744920|PMID:19763152|PMID:19900398|PMID:20207562|PMID:20301473|PMID:20307669|PMID:20489167|PMID:20521171|PMID:20554533|PMID:20718790|PMID:20882348|PMID:20981092|PMID:21436030|PMID:21550990|PMID:22065762|PMID:22269206|PMID:22326530|PMID:22406018|PMID:22476655|PMID:22505584|PMID:22585405|PMID:22676771|PMID:22704015|PMID:22995991|PMID:23112236|PMID:23142039|PMID:23183285|PMID:23427322|PMID:23430855|PMID:23433426|PMID:23453666|PMID:23487299|PMID:23593294|PMID:23597521|PMID:23653225|PMID:23701245|PMID:23711246|PMID:23773996|PMID:23791518|PMID:23821321|PMID:23973268|PMID:24001525|PMID:24033266|PMID:24035292|PMID:24178705|PMID:24386122|PMID:24506780|PMID:24570279|PMID:24676439|PMID:24767253|PMID:24891511|PMID:24915861|PMID:24928400|PMID:25071864|PMID:25099932|PMID:25131710|PMID:25149939|PMID:25236789|PMID:25239094|PMID:25326637|PMID:25349751|PMID:25425405|PMID:25536905|PMID:25590979|PMID:25637190|PMID:25640679|PMID:25741868|PMID:25748406|PMID:25764212|PMID:25873482|PMID:26019327|PMID:26075876|PMID:26108224|PMID:26255038|PMID:26275289|PMID:26284228|PMID:26338816|PMID:26467025|PMID:26666848|PMID:26771826|PMID:26790753|PMID:26830282|PMID:26910362|PMID:26937389|PMID:26939636|PMID:26944241|PMID:26981555|PMID:26984608|PMID:27139891|PMID:27193329|PMID:27234403|PMID:27238017|PMID:27250337|PMID:27256227|PMID:27288778|PMID:27366019|PMID:27378690|PMID:27528516|PMID:27544496|PMID:27549128|PMID:27581084|PMID:27599728|PMID:27706244|PMID:27900365|PMID:27923633|PMID:27928380|PMID:27959697|PMID:28031458|PMID:28082351|PMID:28105569|PMID:28106320|PMID:28130309|PMID:28167839|PMID:28193631|PMID:28222799|PMID:28328115|PMID:28332184|PMID:28387450|PMID:28413817|PMID:28472934|PMID:28480683|PMID:28492532|PMID:28518168|PMID:28666962|PMID:28703315|PMID:28710748|PMID:28776642|PMID:28784760|PMID:28802248|PMID:28808920|PMID:28865947|PMID:28883878|PMID:28957316|PMID:29165669|PMID:29197565|PMID:29429782|PMID:29453517|PMID:29476731|PMID:29631617|PMID:29867446|PMID:29930972|PMID:29971198|PMID:30019023|PMID:30078120|PMID:30119649|PMID:30153451|PMID:30172461|PMID:30202070|PMID:30285904|PMID:30487145|PMID:30503768|PMID:30552426|PMID:30556376|PMID:30609409|PMID:30633340|PMID:30665703|PMID:30737051|PMID:30820861|PMID:30923329|PMID:30968598|PMID:31030438|PMID:31130284|PMID:31139477|PMID:31277084|PMID:31296176|PMID:31497485|PMID:31509197|PMID:31543266|PMID:31589614|PMID:31635081|PMID:31639011|PMID:3165081|PMID:31699992|PMID:31701332|PMID:31743419|PMID:31754021|PMID:31980526|PMID:32060698|PMID:32071943|PMID:32138288|PMID:32144825|PMID:32222928|PMID:32248828|PMID:32258235|PMID:32289814|PMID:32317543|PMID:32371106|PMID:32461654|PMID:32482919|PMID:32488064|PMID:32544384|PMID:32709131|PMID:32745579|PMID:32860008|PMID:32880929|PMID:32921771|PMID:32931663|PMID:33021976|PMID:33027564|PMID:33099109|PMID:33138774|PMID:33163944|PMID:33258288|PMID:33360098|PMID:33624863|PMID:33726816|PMID:33732620|PMID:3378364|PMID:33938663|PMID:33947371|PMID:33990640|PMID:34023347|PMID:34113546|PMID:34234304|PMID:34296265|PMID:34303826|PMID:34426522|PMID:34489640|PMID:34572251|PMID:34799641|PMID:34830064|PMID:35007562|PMID:35038048|PMID:35086560|PMID:35140266|PMID:35192242|PMID:35408815|PMID:35417398|PMID:35455589|PMID:35614200|PMID:35694196|PMID:35758105|PMID:35850050
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:0070113	Niemann-Pick disease type C1		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM | ClinVar Annotator: match by term: NIEMANN-PICK DISEASE, TYPE C1 | ClinVar Annotator: match by term: NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM | ClinVar Annotator: match by term: NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM | ClinVar Annotator: match by term: NPC1 | ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Neurovisceral storage disease with vertical supranuclear ophthalmoplegia | ClinVar Annotator: match by term: Niemann-Pick disease type C1 | ClinVar Annotator: match by term: Niemann-Pick disease with cholesterol esterification block | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1	PMID:35861376|PMID:35892469|PMID:35982159|PMID:36007526|PMID:36125338|PMID:36187872|PMID:36265573|PMID:36307859|PMID:36325261|PMID:36636588|PMID:37032242|PMID:37251532|PMID:37355399|PMID:37433892|PMID:37480097|PMID:37577678|PMID:38002933|PMID:38131230|PMID:38374194|PMID:38448301|PMID:38730490|PMID:39185019|PMID:39286960|PMID:39468051|PMID:39507854|PMID:40221338|PMID:40355959|PMID:4795418|PMID:5465421|PMID:9211849|PMID:9211850|PMID:9245994|PMID:9536098|PMID:9634529|PMID:9744920|PMID:9927649
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:0070114	Niemann-Pick disease type C2		ISO	RGD:1318462	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Niemann-Pick disease, type C2	PMID:25741868
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonism	PMID:25741868|PMID:28492532
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:1059	intellectual disability		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:14970192|PMID:23773996|PMID:25741868|PMID:28492532
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:11077	brucellosis		ISO	RGD:1318462	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12183525
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:12215	oligohydramnios		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:10521290|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:15937921|PMID:16098014|PMID:17160617|PMID:20301473|PMID:20554533|PMID:23183285|PMID:23427322|PMID:23773996|PMID:23791518|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25741868|PMID:26666848|PMID:26981555|PMID:28492532|PMID:32138288|PMID:32248828
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:1324	lung cancer		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:14504	Niemann-Pick disease		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NIEMANN-PICK DISEASE | ClinVar Annotator: match by term: Niemann-Pick disease	PMID:10480349|PMID:1052129|PMID:10521290|PMID:10521297|PMID:11349231|PMID:11754101|PMID:12401890|PMID:14639697|PMID:16098014|PMID:16126423|PMID:17160617|PMID:18216017|PMID:19744920|PMID:20301473|PMID:20521171|PMID:21436030|PMID:22505584|PMID:23430855|PMID:24928400|PMID:25149939|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25873482|PMID:26019327|PMID:26666848|PMID:27923633|PMID:28413817|PMID:28492532|PMID:28666962|PMID:28710748|PMID:28776642|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30487145|PMID:30556376|PMID:30665703|PMID:31589614|PMID:31639011|PMID:31980526|PMID:32138288|PMID:33099109|PMID:34572251|PMID:35140266|PMID:36007526
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:14681	Silver-Russell syndrome		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Russell-Silver syndrome	PMID:28492532
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:1826	epilepsy		ISO	RGD:1318462	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:28492532
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:1826	epilepsy		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:14970192|PMID:23773996|PMID:25741868|PMID:28492532
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:1909	melanoma		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:1936	atherosclerosis		ISO	RGD:1318462	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18483620
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:2355	anemia		ISO	RGD:1318462	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:11754101|PMID:19252935|PMID:23430855|PMID:25741868|PMID:28492532|PMID:32138288|PMID:9211850
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:2725	capillary hemangioma		ISO	RGD:1318462	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Capillary hemangioma	PMID:25741868
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:3211	lysosomal storage disease		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lysosomal storage disease	PMID:10480349|PMID:1052129|PMID:10521290|PMID:10521297|PMID:11349231|PMID:11754101|PMID:12401890|PMID:14639697|PMID:16098014|PMID:16126423|PMID:17160617|PMID:18216017|PMID:19744920|PMID:20301473|PMID:20521171|PMID:21436030|PMID:22505584|PMID:23430855|PMID:24928400|PMID:25149939|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25873482|PMID:26019327|PMID:26666848|PMID:27923633|PMID:28413817|PMID:28492532|PMID:28666962|PMID:28710748|PMID:28776642|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30487145|PMID:30556376|PMID:30665703|PMID:31589614|PMID:31639011|PMID:31980526|PMID:32138288|PMID:33099109|PMID:34572251|PMID:35140266
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:3275	thymoma		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:409	liver disease		ISO	RGD:1318462	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24901380
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:16098014|PMID:25741868|PMID:25764212|PMID:28492532|PMID:30019023|PMID:30820861
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318462	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1318462	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22216111
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:539	ophthalmoplegia		ISO	RGD:1318462	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21273508
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:540	strabismus		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:28492532
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:543	dystonia		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:10521290|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:15937921|PMID:16098014|PMID:17160617|PMID:20301473|PMID:20554533|PMID:23183285|PMID:23427322|PMID:23773996|PMID:23791518|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25741868|PMID:26666848|PMID:26981555|PMID:28492532|PMID:32138288|PMID:32248828|PMID:38549495
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:630	genetic disease		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10480349|PMID:1052129|PMID:10521290|PMID:10521297|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12408188|PMID:12955717|PMID:14639697|PMID:15937921|PMID:16098014|PMID:16126423|PMID:17044092|PMID:17160617|PMID:18216017|PMID:19252935|PMID:19563754|PMID:19744920|PMID:20301473|PMID:20521171|PMID:20554533|PMID:21436030|PMID:22326530|PMID:22505584|PMID:23183285|PMID:23427322|PMID:23430855|PMID:23773996|PMID:23791518|PMID:24033266|PMID:24178705|PMID:24386122|PMID:24928400|PMID:25131710|PMID:25149939|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25764212|PMID:25873482|PMID:26019327|PMID:26666848|PMID:26939636|PMID:26981555|PMID:27193329|PMID:27923633|PMID:28105569|PMID:28413817|PMID:28492532|PMID:28666962|PMID:28710748|PMID:28776642|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30019023|PMID:30487145|PMID:30556376|PMID:30609409|PMID:30665703|PMID:30820861|PMID:31589614|PMID:31639011|PMID:31980526|PMID:32138288|PMID:32248828|PMID:33099109|PMID:33727856|PMID:34572251|PMID:35086560|PMID:35140266|PMID:9211849|PMID:9211850
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:28492532
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9000053	Headache		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Headache | ClinVar Annotator: match by term: Headaches	PMID:10521290|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:15937921|PMID:16086131|PMID:16098014|PMID:17160617|PMID:20301473|PMID:20554533|PMID:22326530|PMID:23183285|PMID:23427322|PMID:23773996|PMID:23791518|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25741868|PMID:26666848|PMID:26981555|PMID:28332184|PMID:28492532|PMID:31743419|PMID:32138288|PMID:32248828
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9000495	Tremor		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intention tremor	PMID:10480349|PMID:1052129|PMID:10521290|PMID:10521297|PMID:11349231|PMID:11754101|PMID:12401890|PMID:14639697|PMID:16098014|PMID:16126423|PMID:17160617|PMID:18216017|PMID:19744920|PMID:20301473|PMID:20521171|PMID:21436030|PMID:22505584|PMID:23430855|PMID:24928400|PMID:25149939|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25873482|PMID:26019327|PMID:26666848|PMID:27923633|PMID:28413817|PMID:28492532|PMID:28666962|PMID:28710748|PMID:28776642|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30487145|PMID:30556376|PMID:30665703|PMID:31589614|PMID:31639011|PMID:31980526|PMID:32138288|PMID:33099109|PMID:34572251|PMID:35140266
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9000966	Night Terror		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep terror	PMID:28492532
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9001031	Retrognathia		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:28492532
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:10521290|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:15937921|PMID:16098014|PMID:17160617|PMID:20301473|PMID:20554533|PMID:23183285|PMID:23427322|PMID:23773996|PMID:23791518|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25741868|PMID:26666848|PMID:26981555|PMID:28492532|PMID:32138288|PMID:32248828
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9001722	Dysarthria		ISO	RGD:1318462	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21273508
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:10480349|PMID:1052129|PMID:10521290|PMID:10521297|PMID:11349231|PMID:11754101|PMID:12401890|PMID:14639697|PMID:16098014|PMID:16126423|PMID:17160617|PMID:18216017|PMID:19744920|PMID:20301473|PMID:20521171|PMID:21436030|PMID:22505584|PMID:23430855|PMID:24928400|PMID:25149939|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25873482|PMID:26019327|PMID:26666848|PMID:27923633|PMID:28413817|PMID:28492532|PMID:28666962|PMID:28710748|PMID:28776642|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30487145|PMID:30556376|PMID:30665703|PMID:31589614|PMID:31639011|PMID:31980526|PMID:32138288|PMID:33099109|PMID:34572251|PMID:35140266
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9002695	Cataplexy		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cataplexy	PMID:10521290|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:15937921|PMID:16086131|PMID:16098014|PMID:17160617|PMID:20301473|PMID:20554533|PMID:22326530|PMID:23183285|PMID:23427322|PMID:23773996|PMID:23791518|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25741868|PMID:26666848|PMID:26981555|PMID:28332184|PMID:28492532|PMID:31743419|PMID:32138288|PMID:32248828
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9002720	Splenomegaly		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:10480349|PMID:1052129|PMID:10521290|PMID:10521297|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:15937921|PMID:16098014|PMID:16126423|PMID:17160617|PMID:18216017|PMID:19252935|PMID:19744920|PMID:20301473|PMID:20521171|PMID:20554533|PMID:21436030|PMID:22505584|PMID:23183285|PMID:23427322|PMID:23430855|PMID:23773996|PMID:23791518|PMID:24928400|PMID:25149939|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25873482|PMID:26019327|PMID:26666848|PMID:26981555|PMID:27923633|PMID:28413817|PMID:28492532|PMID:28666962|PMID:28710748|PMID:28776642|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30487145|PMID:30556376|PMID:30665703|PMID:31589614|PMID:31639011|PMID:31980526|PMID:32138288|PMID:32248828|PMID:33099109|PMID:34572251|PMID:35140266|PMID:9211850
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:10521290|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:15937921|PMID:16086131|PMID:16098014|PMID:17160617|PMID:20301473|PMID:20554533|PMID:22326530|PMID:23183285|PMID:23427322|PMID:23773996|PMID:23791518|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25741868|PMID:26666848|PMID:26981555|PMID:28332184|PMID:28492532|PMID:31743419|PMID:32138288|PMID:32248828
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:10521290|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:15937921|PMID:16098014|PMID:17160617|PMID:20301473|PMID:20554533|PMID:23183285|PMID:23427322|PMID:23773996|PMID:23791518|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25741868|PMID:26666848|PMID:26981555|PMID:28492532|PMID:32138288|PMID:32248828
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:28492532
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9004866	Ataxia		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:10480349|PMID:1052129|PMID:10521290|PMID:10521297|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:15937921|PMID:16086131|PMID:16098014|PMID:16126423|PMID:17160617|PMID:18216017|PMID:19744920|PMID:20301473|PMID:20521171|PMID:20554533|PMID:21436030|PMID:22326530|PMID:22505584|PMID:23183285|PMID:23427322|PMID:23430855|PMID:23773996|PMID:23791518|PMID:24928400|PMID:25149939|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25873482|PMID:26019327|PMID:26666848|PMID:26981555|PMID:27923633|PMID:28332184|PMID:28413817|PMID:28492532|PMID:28666962|PMID:28710748|PMID:28776642|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30487145|PMID:30556376|PMID:30665703|PMID:31589614|PMID:31639011|PMID:31743419|PMID:31980526|PMID:32138288|PMID:32248828|PMID:33099109|PMID:34572251|PMID:35140266
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:10480349|PMID:1052129|PMID:10521290|PMID:10521297|PMID:11349231|PMID:11754101|PMID:12401890|PMID:14639697|PMID:16098014|PMID:16126423|PMID:17160617|PMID:18216017|PMID:19744920|PMID:20301473|PMID:20521171|PMID:21436030|PMID:22505584|PMID:23430855|PMID:24928400|PMID:25149939|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25873482|PMID:26019327|PMID:26666848|PMID:27923633|PMID:28413817|PMID:28492532|PMID:28666962|PMID:28710748|PMID:28776642|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30487145|PMID:30556376|PMID:30665703|PMID:31589614|PMID:31639011|PMID:31980526|PMID:32138288|PMID:33099109|PMID:34572251|PMID:35140266
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9005616	Micrognathism		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:28492532
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:28492532
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10521290|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:15937921|PMID:16098014|PMID:17160617|PMID:20301473|PMID:20554533|PMID:23183285|PMID:23427322|PMID:23433426|PMID:23773996|PMID:23791518|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25741868|PMID:26666848|PMID:26981555|PMID:28193631|PMID:28492532|PMID:31699992|PMID:32138288|PMID:32248828|PMID:35086560|PMID:38131230|PMID:38730490
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:28492532
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318462	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1318462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:93	language disorder		ISO	RGD:1318462	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:10480349|PMID:1052129|PMID:10521290|PMID:10521297|PMID:11349231|PMID:11754101|PMID:12401890|PMID:14639697|PMID:16098014|PMID:16126423|PMID:17160617|PMID:18216017|PMID:19744920|PMID:20301473|PMID:20521171|PMID:21436030|PMID:22505584|PMID:23430855|PMID:24928400|PMID:25149939|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25873482|PMID:26019327|PMID:26666848|PMID:27923633|PMID:28413817|PMID:28492532|PMID:28666962|PMID:28710748|PMID:28776642|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30487145|PMID:30556376|PMID:30665703|PMID:31589614|PMID:31639011|PMID:31980526|PMID:32138288|PMID:33099109|PMID:34572251|PMID:35140266
8716046	Npc1	NPC intracellular cholesterol transporter 1	gene	DOID:9970	obesity		ISO	RGD:1318462	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19151714
8716075	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8716075	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8716075	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:10534	stomach cancer		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8716075	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:1324	lung cancer		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8716075	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8716075	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:3275	thymoma		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8716075	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:4362	cervical cancer		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8716075	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:5041	esophageal cancer		ISO	RGD:1312449	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8716075	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716075	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8716075	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:9005651	NOR POLYAGGLUTINATION SYNDROME		ISO	RGD:1312449	D	RGD:7240710	20241113	OMIM			
8716075	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8716075	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8716075	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8716099	L3hypdh	trans-L-3-hydroxyproline dehydratase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8716099	L3hypdh	trans-L-3-hydroxyproline dehydratase	gene	DOID:1115	sarcoma		ISO	RGD:1313918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8716099	L3hypdh	trans-L-3-hydroxyproline dehydratase	gene	DOID:1324	lung cancer		ISO	RGD:1313918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8716099	L3hypdh	trans-L-3-hydroxyproline dehydratase	gene	DOID:3275	thymoma		ISO	RGD:1313918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8716099	L3hypdh	trans-L-3-hydroxyproline dehydratase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8716099	L3hypdh	trans-L-3-hydroxyproline dehydratase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8716099	L3hypdh	trans-L-3-hydroxyproline dehydratase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8716099	L3hypdh	trans-L-3-hydroxyproline dehydratase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313918	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8716099	L3hypdh	trans-L-3-hydroxyproline dehydratase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8716119	Trim44	tripartite motif containing 44	gene	DOID:12271	aniridia		ISO	RGD:1312571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8716119	Trim44	tripartite motif containing 44	gene	DOID:1324	lung cancer		ISO	RGD:1312571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8716119	Trim44	tripartite motif containing 44	gene	DOID:1909	melanoma		ISO	RGD:1312571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8716119	Trim44	tripartite motif containing 44	gene	DOID:9001549	Aniridia 3		ISO	RGD:1312571	D	RGD:7240710	20190315	OMIM			
8716119	Trim44	tripartite motif containing 44	gene	DOID:9001549	Aniridia 3		ISO	RGD:1312571	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Aniridia 3	PMID:25741868
8716119	Trim44	tripartite motif containing 44	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1304877	D	RGD:9068941	20230727	RGD		mRNA,protein:increased expression:heart	PMID:35855640|REF_RGD_ID:329961579
8716119	Trim44	tripartite motif containing 44	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1312571	D	RGD:9068941	20230727	RGD		mRNA:increased expression:heart	PMID:35855640|REF_RGD_ID:329961579
8716119	Trim44	tripartite motif containing 44	gene	DOID:9003936	Cardiomegaly	ameliorates	ISO	RGD:1304877	D	RGD:9068941	20230727	RGD			PMID:35855640|REF_RGD_ID:329961579
8716142	Nkx2-8	NK2 homeobox 8	gene	DOID:0080016	spina bifida		ISO	RGD:12245875	D	RGD:9068941	20230615	OMIA		Spinal dysraphism	PMID:1641930|PMID:22843830|PMID:23874236|PMID:26725976|PMID:375559|PMID:4434313|PMID:4732250|PMID:5023160|PMID:5318050|PMID:5339905|PMID:5893238|PMID:6756221|PMID:6756222|PMID:8578905
8716160	Trim47	tripartite motif containing 47	gene	DOID:1115	sarcoma		ISO	RGD:1322764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8716160	Trim47	tripartite motif containing 47	gene	DOID:1909	melanoma		ISO	RGD:1322764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8716160	Trim47	tripartite motif containing 47	gene	DOID:5041	esophageal cancer		ISO	RGD:1322764	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8716160	Trim47	tripartite motif containing 47	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8716160	Trim47	tripartite motif containing 47	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1322764	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31981573
8716160	Trim47	tripartite motif containing 47	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1322764	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31981573
8716160	Trim47	tripartite motif containing 47	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8716160	Trim47	tripartite motif containing 47	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1322764	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31981573
8716171	Iqck	IQ motif containing K	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8716171	Iqck	IQ motif containing K	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1605300	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30820047
8716171	Iqck	IQ motif containing K	gene	DOID:1115	sarcoma		ISO	RGD:1605300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8716171	Iqck	IQ motif containing K	gene	DOID:3275	thymoma		ISO	RGD:1605300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8716171	Iqck	IQ motif containing K	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8716171	Iqck	IQ motif containing K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716171	Iqck	IQ motif containing K	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:0111275	speech-language disorder-1		ISO	RGD:1352013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Childhood apraxia of speech	PMID:25741868
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:10534	stomach cancer		ISO	RGD:1352013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:1059	intellectual disability		ISO	RGD:1352013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:12858	Huntington's disease		ISO	RGD:1557071	D	RGD:9068941	20200609	RGD			PMID:20089533|REF_RGD_ID:10043799
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:1324	lung cancer		ISO	RGD:1352013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:1909	melanoma		ISO	RGD:1352013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1352013	D	RGD:9068941	20260129	RGD		DNA:SNP: :rs2269459	PMID:24926854|REF_RGD_ID:631795978
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:3275	thymoma		ISO	RGD:1352013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:4362	cervical cancer		ISO	RGD:1352013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:630	genetic disease		ISO	RGD:1352013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19344873|PMID:25741868|PMID:31353023|PMID:35689525
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:8927	learning disability		ISO	RGD:1352013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Learning disability	PMID:25741868
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:9000637	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES		ISO	RGD:1352013	D	RGD:7240710	20191030	OMIM			
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:9000637	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES		ISO	RGD:1352013	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | ClinVar Annotator: match by term: POLR2A-related condition	PMID:19344873|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30929733|PMID:31353023|PMID:33665635|PMID:35328024
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1352013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:31353023
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1352013	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:24033266|PMID:25741868
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:9005600	Infarction		ISO	RGD:1587326	D	RGD:9068941	20200609	RGD			PMID:22535878|REF_RGD_ID:9681722
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352013	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:25741868
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:9008582	Developmental Disease		ISO	RGD:1352013	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8716185	Polr2a	RNA polymerase II subunit A	gene	DOID:9256	colorectal cancer		ISO	RGD:1352013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8716236	Tmem216	transmembrane protein 216	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8716236	Tmem216	transmembrane protein 216	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1602714	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20036350|PMID:20307669|PMID:20512146|PMID:22282472|PMID:22406018|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:39191256|PMID:40191993|PMID:9536098
8716236	Tmem216	transmembrane protein 216	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8716236	Tmem216	transmembrane protein 216	gene	DOID:0061109	retinitis pigmentosa 98		ISO	RGD:1602714	D	RGD:7240710	20241106	OMIM			
8716236	Tmem216	transmembrane protein 216	gene	DOID:0061109	retinitis pigmentosa 98		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 98 | ClinVar Annotator: match by term: Retinitis pigmentosa 98	PMID:25741868|PMID:28492532|PMID:39191256
8716236	Tmem216	transmembrane protein 216	gene	DOID:0070116	Meckel syndrome 2		ISO	RGD:1602714	D	RGD:7240710	20180130	OMIM			
8716236	Tmem216	transmembrane protein 216	gene	DOID:0070116	Meckel syndrome 2		ISO	RGD:1602714	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Meckel syndrome type 2 | ClinVar Annotator: match by term: Meckel syndrome, type 2	PMID:16199547|PMID:20512146|PMID:25741868|PMID:26467025|PMID:28492532
8716236	Tmem216	transmembrane protein 216	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1602714	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20036350|PMID:20301500|PMID:20307669|PMID:20512146|PMID:22282472|PMID:22406018|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:28497568|PMID:31964843|PMID:32483926|PMID:34448047|PMID:36788019|PMID:37486637|PMID:39191256|PMID:9536098
8716236	Tmem216	transmembrane protein 216	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:25741868|PMID:26467025|PMID:28492532
8716236	Tmem216	transmembrane protein 216	gene	DOID:0110988	Joubert Syndrome 2		ISO	RGD:1602714	D	RGD:7240710	20180130	OMIM			
8716236	Tmem216	transmembrane protein 216	gene	DOID:0110988	Joubert Syndrome 2		ISO	RGD:1602714	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2 | ClinVar Annotator: match by term: JOUBERT SYNDROME 2 | ClinVar Annotator: match by term: Joubert syndrome 2 | ClinVar Annotator: match by term: Joubert syndrome type 2	PMID:16199547|PMID:20036350|PMID:20512146|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532
8716236	Tmem216	transmembrane protein 216	gene	DOID:10534	stomach cancer		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8716236	Tmem216	transmembrane protein 216	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8716236	Tmem216	transmembrane protein 216	gene	DOID:1115	sarcoma		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8716236	Tmem216	transmembrane protein 216	gene	DOID:1324	lung cancer		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8716236	Tmem216	transmembrane protein 216	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8716236	Tmem216	transmembrane protein 216	gene	DOID:4362	cervical cancer		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8716236	Tmem216	transmembrane protein 216	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8716236	Tmem216	transmembrane protein 216	gene	DOID:5041	esophageal cancer		ISO	RGD:1602714	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8716236	Tmem216	transmembrane protein 216	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716236	Tmem216	transmembrane protein 216	gene	DOID:630	genetic disease		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8716236	Tmem216	transmembrane protein 216	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8716236	Tmem216	transmembrane protein 216	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8716258	Nsun7	NOP2/Sun RNA methyltransferase family member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8716258	Nsun7	NOP2/Sun RNA methyltransferase family member 7	gene	DOID:1115	sarcoma		ISO	RGD:1602865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8716258	Nsun7	NOP2/Sun RNA methyltransferase family member 7	gene	DOID:12336	male infertility		ISO	RGD:1602865	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17442852
8716258	Nsun7	NOP2/Sun RNA methyltransferase family member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716258	Nsun7	NOP2/Sun RNA methyltransferase family member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8716258	Nsun7	NOP2/Sun RNA methyltransferase family member 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:0050117	disease by infectious agent		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:0050665	fetal alcohol syndrome		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: fetal alcohol syndrome	PMID:25741868|PMID:28492532
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: fetal alcohol syndrome	PMID:25741868|PMID:28492532
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders	PMID:25741868|PMID:28492532
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:0080228	autosomal dominant intellectual developmental disorder 53		ISO	RGD:736752	D	RGD:7240710	20190315	OMIM			
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:0080228	autosomal dominant intellectual developmental disorder 53		ISO	RGD:736752	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CAMK2A-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 53	PMID:25741868|PMID:28130356|PMID:28492532|PMID:29100089|PMID:29560374|PMID:29784083|PMID:30577886
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:0080833	laryngomalacia		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:0081224	autosomal recessive intellectual developmental disorder 63		ISO	RGD:736752	D	RGD:7240710	20190315	OMIM			
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:0081224	autosomal recessive intellectual developmental disorder 63		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63	PMID:25741868
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:1059	intellectual disability		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28130356|PMID:28135719|PMID:29100089|PMID:29560374|PMID:29784083|PMID:30577886
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736752	D	RGD:9068941	20200609	RGD			PMID:15621017|REF_RGD_ID:13681926
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:12849	autistic disorder		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28130356|PMID:29100089|PMID:29560374|PMID:29784083
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:1324	lung cancer		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:14764	Larsen syndrome		ISO	RGD:736752	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Larsen syndrome, dominant type	PMID:25741868
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:1574	alcohol use disorder		ISO	RGD:10284	D	RGD:9068941	20250403	RGD		mRNA:altered expression:prefrontal cortex (mouse)	PMID:28714806|REF_RGD_ID:18337277
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:1574	alcohol use disorder	sexual_dimorphism	ISO	RGD:10284	D	RGD:9068941	20250403	RGD		mRNA:increased expression:cerebral cortex (in females only, mouse)	PMID:32937997|REF_RGD_ID:598099545
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:1657	ventricular septal defect		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:28135719|PMID:29100089
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:1826	epilepsy		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28130356|PMID:28492532|PMID:29100089|PMID:29560374|PMID:29784083
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:2234	focal epilepsy		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:224	transient cerebral ischemia		ISO	RGD:10284	D	RGD:9068941	20200609	RGD			PMID:12199152|REF_RGD_ID:13681927
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:224	transient cerebral ischemia		ISO	RGD:2261	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus	PMID:12951199|REF_RGD_ID:7241547
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:2769	tic disorder		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Phonic tics	
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:3070	high grade glioma		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:3070	high grade glioma	disease_progression	ISO	RGD:736752	D	RGD:9068941	20200609	RGD			PMID:29393370|REF_RGD_ID:13702478
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:3312	bipolar disorder		ISO	RGD:10284	D	RGD:9068941	20220825	MouseDO			
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:2261	D	RGD:9068941	20200609	RGD			PMID:14688616|REF_RGD_ID:1358416
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:736752	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:535	sleep disorder		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:540	strabismus		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:630	genetic disease		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28135719|PMID:29100089|PMID:29560374
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868|PMID:28492532
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:736752	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:30673822
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:77	gastrointestinal system disease		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the digestive system	PMID:28135719|PMID:29100089
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:893	Wilson disease		ISO	RGD:736752	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23519153
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2261	D	RGD:9068941	20200609	RGD			PMID:18042863|REF_RGD_ID:7240711
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9002211	Hyperalgesia		ISO	RGD:736752	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20053885
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9002997	Glossoptosis		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glossoptosis	
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9003133	Hypertelorism		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9003816	Macrocephaly		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28130356|PMID:28135719|PMID:29100089|PMID:29560374|PMID:29784083
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:736752	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9004673	Hearing Loss, Cisplatin-Induced	treatment	ISO	RGD:2261	D	RGD:9068941	20200609	RGD			PMID:23558232|REF_RGD_ID:9685025
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9005369	Hepatomegaly		ISO	RGD:736752	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9005372	Inflammation		ISO	RGD:2261	D	RGD:9068941	20200609	RGD		protein:increased expression:axon	PMID:12176168|REF_RGD_ID:9685027
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9005466	Language Development Disorders		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:25741868|PMID:28130356|PMID:29100089|PMID:29560374|PMID:29784083
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:736752	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14725635
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9006956	nephrotoxicity	treatment	ISO	RGD:2261	D	RGD:9068941	20230622	RGD			PMID:37244046|REF_RGD_ID:329853759
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736752	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9007661	Dwarfism		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9007892	Tics		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Motor tics	
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:25741872|PMID:28130356|PMID:29100089|PMID:29560374|PMID:29784083
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:28135719|PMID:29100089|PMID:29560374|PMID:30577886
8716284	Camk2a	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9008589	Hallux Valgus		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	
8716314	Klkb1	kallikrein B1	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:67382	D	RGD:9068941	20200609	RGD			PMID:8625762|REF_RGD_ID:7327139
8716314	Klkb1	kallikrein B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8716314	Klkb1	kallikrein B1	gene	DOID:0060903	thrombosis		ISO	RGD:736915	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25339356
8716314	Klkb1	kallikrein B1	gene	DOID:0080162	lupus nephritis	susceptibility	ISO	RGD:736915	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:	PMID:19307730|REF_RGD_ID:7327150
8716314	Klkb1	kallikrein B1	gene	DOID:10763	hypertension		ISO	RGD:736915	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1; protein:increased expression:plasma:	PMID:12716755|REF_RGD_ID:7327151
8716314	Klkb1	kallikrein B1	gene	DOID:1115	sarcoma		ISO	RGD:736915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8716314	Klkb1	kallikrein B1	gene	DOID:1324	lung cancer		ISO	RGD:736915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8716314	Klkb1	kallikrein B1	gene	DOID:2921	glomerulonephritis		ISO	RGD:736915	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:2173275|REF_RGD_ID:7327152
8716314	Klkb1	kallikrein B1	gene	DOID:3275	thymoma		ISO	RGD:736915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8716314	Klkb1	kallikrein B1	gene	DOID:3410	carotid artery thrombosis		ISO	RGD:736915	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25339356
8716314	Klkb1	kallikrein B1	gene	DOID:4362	cervical cancer		ISO	RGD:736915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8716314	Klkb1	kallikrein B1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8716314	Klkb1	kallikrein B1	gene	DOID:5041	esophageal cancer		ISO	RGD:736915	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8716314	Klkb1	kallikrein B1	gene	DOID:5082	liver cirrhosis		ISO	RGD:67382	D	RGD:9068941	20200609	RGD			PMID:14986822|REF_RGD_ID:7297050
8716314	Klkb1	kallikrein B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716314	Klkb1	kallikrein B1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8716314	Klkb1	kallikrein B1	gene	DOID:9002165	Diabetic Nephropathies	disease_progression	ISO	RGD:736915	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1; protein:increased expression:plasma:	PMID:12716755|REF_RGD_ID:7327151
8716314	Klkb1	kallikrein B1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:67382	D	RGD:9068941	20200609	RGD			PMID:22739815|PMID:9783057|REF_RGD_ID:7297047|REF_RGD_ID:7327138
8716314	Klkb1	kallikrein B1	gene	DOID:9002805	Enterocolitis		ISO	RGD:67382	D	RGD:9068941	20200609	RGD			PMID:9783057|REF_RGD_ID:7327138
8716314	Klkb1	kallikrein B1	gene	DOID:9003851	Prekallikrein Deficiency		ISO	RGD:736915	D	RGD:7240710	20180130	OMIM			
8716314	Klkb1	kallikrein B1	gene	DOID:9003851	Prekallikrein Deficiency		ISO	RGD:736915	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inherited prekallikrein deficiency | ClinVar Annotator: match by term: KLKB1-related condition | ClinVar Annotator: match by term: PREKALLIKREIN DEFICIENCY | ClinVar Annotator: match by term: Prekallikrein deficiency	PMID:12871337|PMID:14652634|PMID:25741868|PMID:32202057
8716314	Klkb1	kallikrein B1	gene	DOID:9004484	Sepsis		ISO	RGD:67382	D	RGD:9068941	20200609	RGD			PMID:22352684|REF_RGD_ID:7297048
8716314	Klkb1	kallikrein B1	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:736915	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:	PMID:19307730|REF_RGD_ID:7327150
8716314	Klkb1	kallikrein B1	gene	DOID:9477	pulmonary embolism		ISO	RGD:736915	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25339356
8716338	Slc41a3	solute carrier family 41 member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8716338	Slc41a3	solute carrier family 41 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8716338	Slc41a3	solute carrier family 41 member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8716338	Slc41a3	solute carrier family 41 member 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1343810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8716338	Slc41a3	solute carrier family 41 member 3	gene	DOID:3070	high grade glioma		ISO	RGD:1343810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8716338	Slc41a3	solute carrier family 41 member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1343810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8716338	Slc41a3	solute carrier family 41 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716338	Slc41a3	solute carrier family 41 member 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1343810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8716338	Slc41a3	solute carrier family 41 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8716338	Slc41a3	solute carrier family 41 member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8716362	Tac4	tachykinin precursor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8716362	Tac4	tachykinin precursor 4	gene	DOID:10534	stomach cancer		ISO	RGD:735700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8716362	Tac4	tachykinin precursor 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8716362	Tac4	tachykinin precursor 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8716362	Tac4	tachykinin precursor 4	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:735700	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
8716362	Tac4	tachykinin precursor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716381	Emc8	ER membrane protein complex subunit 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8716381	Emc8	ER membrane protein complex subunit 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8716381	Emc8	ER membrane protein complex subunit 8	gene	DOID:1115	sarcoma		ISO	RGD:1322563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8716381	Emc8	ER membrane protein complex subunit 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8716381	Emc8	ER membrane protein complex subunit 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716381	Emc8	ER membrane protein complex subunit 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322563	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8716381	Emc8	ER membrane protein complex subunit 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8716390	Kif17	kinesin family member 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8716390	Kif17	kinesin family member 17	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1344438	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8716390	Kif17	kinesin family member 17	gene	DOID:10534	stomach cancer		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8716390	Kif17	kinesin family member 17	gene	DOID:1115	sarcoma		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8716390	Kif17	kinesin family member 17	gene	DOID:1324	lung cancer		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8716390	Kif17	kinesin family member 17	gene	DOID:3275	thymoma		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8716390	Kif17	kinesin family member 17	gene	DOID:4362	cervical cancer		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8716390	Kif17	kinesin family member 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1344438	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8716390	Kif17	kinesin family member 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716390	Kif17	kinesin family member 17	gene	DOID:6039	uveal melanoma		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8716390	Kif17	kinesin family member 17	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8716390	Kif17	kinesin family member 17	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8716390	Kif17	kinesin family member 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8716390	Kif17	kinesin family member 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8716390	Kif17	kinesin family member 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8716418	CUNH3orf38	chromosome unknown C3orf38 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8716418	CUNH3orf38	chromosome unknown C3orf38 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1602632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8716418	CUNH3orf38	chromosome unknown C3orf38 homolog	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8716418	CUNH3orf38	chromosome unknown C3orf38 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716432	Gdf11	growth differentiation factor 11	gene	DOID:0050567	orofacial cleft		ISO	RGD:731907	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Orofacial clefting	
8716432	Gdf11	growth differentiation factor 11	gene	DOID:0070418	vertebral hypersegmentation and orofacial anomalies		ISO	RGD:731907	D	RGD:7240710	20220406	OMIM			
8716432	Gdf11	growth differentiation factor 11	gene	DOID:0070418	vertebral hypersegmentation and orofacial anomalies		ISO	RGD:731907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GDF11-related condition | ClinVar Annotator: match by term: Vertebral hypersegmentation and orofacial anomalies	PMID:25741868|PMID:31215115|PMID:34113007
8716432	Gdf11	growth differentiation factor 11	gene	DOID:0080600	COVID-19		ISO	RGD:731907	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8716432	Gdf11	growth differentiation factor 11	gene	DOID:1059	intellectual disability		ISO	RGD:731907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868
8716432	Gdf11	growth differentiation factor 11	gene	DOID:5041	esophageal cancer		ISO	RGD:731907	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8716432	Gdf11	growth differentiation factor 11	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:731907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:31215115|PMID:34113007
8716432	Gdf11	growth differentiation factor 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8716432	Gdf11	growth differentiation factor 11	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:736225	D	RGD:9068941	20230615	RGD		mRNA, protein:decreased expression:heart (mouse)	PMID:30765322|REF_RGD_ID:329849112
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:0050548	hereditary sensory and autonomic neuropathy		ISO	RGD:1354178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21532572
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:0050548	hereditary sensory and autonomic neuropathy		ISO	RGD:1354178	D	RGD:9068941	20200609	RGD		DNA:missensemutations:cds:	PMID:21532572|REF_RGD_ID:9588627
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:620979	D	RGD:9068941	20240201	RGD		mRNA,protein:increased expression:Pituitary gland (rat)	PMID:26509893|REF_RGD_ID:11344152
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:17576681|PMID:28492532|PMID:9536098
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:0050902	medulloblastoma		ISO	RGD:1354178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19155313
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1354178	D	RGD:9068941	20220210	CTD		CTD Direct Evidence: marker/mechanism	PMID:32431489
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:0050952	spastic ataxia		ISO	RGD:1354178	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:0050968	autosomal dominant cerebellar ataxia, deafness and narcolepsy		ISO	RGD:1354178	D	RGD:7240710	20180130	OMIM			
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:0050968	autosomal dominant cerebellar ataxia, deafness and narcolepsy		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Cerebellar Ataxia, Deafness, and Narcolepsy | ClinVar Annotator: match by term: DNMT1-Related Disorder | ClinVar Annotator: match by term: DNMT1-related disorder | ClinVar Annotator: match by term: autosomal dominant cerebellar ataxia, deafness and narcolepsy	PMID:17576681|PMID:22328086|PMID:25741868|PMID:27602171|PMID:28492532|PMID:31984424|PMID:32754641|PMID:37674478|PMID:38907861|PMID:9536098
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1354178	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:28492532
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:0060327	omphalocele		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: exomphalos	PMID:25741868|PMID:28492532|PMID:30165906
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:0070158	hereditary sensory neuropathy type 1E		ISO	RGD:1354178	D	RGD:7240710	20180130	OMIM			
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:0070158	hereditary sensory neuropathy type 1E		ISO	RGD:1354178	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Dementia, Deafness, and Sensory Neuropathy | ClinVar Annotator: match by term: HSN IE | ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA	PMID:10210919|PMID:16199547|PMID:17576681|PMID:21532572|PMID:23365052|PMID:23521649|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532|PMID:30165906|PMID:7898717|PMID:9536098
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:0070158	hereditary sensory neuropathy type 1E		ISO	RGD:1354178	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA	PMID:21532572|PMID:22328086|PMID:23365052|PMID:25326637|PMID:25678562|PMID:25741868|PMID:27602171|PMID:28334952|PMID:28492532|PMID:31984424|PMID:32754641|PMID:35640668|PMID:38907861
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:1552151	D	RGD:9068941	20200609	RGD			PMID:22905112|REF_RGD_ID:9588654
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:0080307	myofibrillar myopathy		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myofibrillar myopathy	PMID:17576681|PMID:28492532|PMID:9536098
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1354178	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus:	PMID:24038143|REF_RGD_ID:9588628
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:23521649|PMID:24727570
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:17576681|PMID:28492532|PMID:9536098
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:11830	myopia		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1354178	D	RGD:9068941	20210521	RGD		protein:increased expression:cardiac muscle tissue of interventricular septum (human)	PMID:32051532|REF_RGD_ID:126925233
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:12361	Graves' disease	treatment	ISO	RGD:1354178	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :32204 G>A(human)	PMID:23039890|REF_RGD_ID:9588624
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:1307	dementia		ISO	RGD:1354178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21532572
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:1354178	D	RGD:9068941	20200609	RGD		protein:increased expression:lung:	PMID:24548441|REF_RGD_ID:9588658
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:1354178	D	RGD:9068941	20211210	RGD		protein:increased expression:lung (human)	PMID:21496867|REF_RGD_ID:150530293
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:1596	depressive disorder		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:1682	congenital heart disease		ISO	RGD:620979	D	RGD:9068941	20200609	RGD		associated with Vitamin A Deficiency; mRNA:increased expression:heart:	PMID:23333085|REF_RGD_ID:9588314
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:17576681|PMID:28492532|PMID:9536098
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:2526	prostate adenocarcinoma		ISO	RGD:1552151	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:prostate gland:	PMID:17178860|REF_RGD_ID:2289681
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:2841	asthma		ISO	RGD:1354178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23423710
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:2841	asthma		ISO	RGD:1552151	D	RGD:9068941	20200609	RGD		DNA,mRNA:hypermethylation,decreased expression:promoter,respiratory tract:	PMID:23196709|REF_RGD_ID:9588646
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:288	endometriosis of uterus		ISO	RGD:1354178	D	RGD:9068941	20200609	RGD		protein:increased expression:ectopic endometrium:	PMID:22572543|REF_RGD_ID:9588664
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:289	endometriosis		ISO	RGD:1354178	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:endometrium:	PMID:21316665|REF_RGD_ID:9588653
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:299	adenocarcinoma		ISO	RGD:1354178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17571247
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:305	carcinoma		ISO	RGD:1354178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21458988
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:25741868|PMID:28492532
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1552151	D	RGD:9068941	20200609	RGD			PMID:11726790|REF_RGD_ID:9588643
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:3565	meningioma		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningioma	
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1354178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29844410
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:3587	pancreatic ductal carcinoma	disease_progression	ISO	RGD:1354178	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:19424621|REF_RGD_ID:9588974
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:3905	lung carcinoma	disease_progression	ISO	RGD:620979	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus:	PMID:21163286|REF_RGD_ID:9588222
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1354178	D	RGD:9068941	20210430	RGD			PMID:32211850|REF_RGD_ID:126848780
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1354178	D	RGD:9068941	20210430	RGD			PMID:32211850|REF_RGD_ID:126848780
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:417	autoimmune disease		ISO	RGD:1552151	D	RGD:9068941	20200609	RGD			PMID:23444399|REF_RGD_ID:9588650
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27292127
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:4531	mucoepidermoid carcinoma	disease_progression	ISO	RGD:1354178	D	RGD:9068941	20200609	RGD			PMID:15999364|REF_RGD_ID:9588574
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:4926	bronchiolo-alveolar adenocarcinoma	disease_progression	ISO	RGD:1354178	D	RGD:9068941	20200609	RGD			PMID:19484794|REF_RGD_ID:4140940
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1354178	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:620979	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver:	PMID:24211420|REF_RGD_ID:9588224
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:5419	schizophrenia		ISO	RGD:1354178	D	RGD:9068941	20200609	RGD		mRNA:increased expression:GABAergic interneuron	PMID:17264840|REF_RGD_ID:9588642
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:5419	schizophrenia		ISO	RGD:1552151	D	RGD:9068941	20200609	RGD			PMID:22564440|REF_RGD_ID:9588973
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:5572	Beckwith-Wiedemann syndrome		ISO	RGD:1354178	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome	PMID:25741868|PMID:28492532|PMID:30165906
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:6000	congestive heart failure		ISO	RGD:620979	D	RGD:9068941	20200609	RGD		protein:increased expression:atrium:	PMID:23573917|REF_RGD_ID:9588286
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1354178	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:21532572|PMID:22328086|PMID:24727570|PMID:25678562|PMID:25741868|PMID:27602171|PMID:28492532|PMID:30165906|PMID:31049076|PMID:31984424|PMID:32754641|PMID:35640668|PMID:36394275|PMID:38907861|PMID:9536098
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:7148	rheumatoid arthritis	severity	ISO	RGD:1354178	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mononuclear cell	PMID:20937307|REF_RGD_ID:9588623
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:7319	axonal neuropathy		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Motor axonal neuropathy	PMID:17576681|PMID:28492532|PMID:9536098
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:8456	choline deficiency disease		ISO	RGD:620979	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:liver:	PMID:17724018|REF_RGD_ID:9588267
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:8552	chronic myeloid leukemia	disease_progression	ISO	RGD:1354178	D	RGD:9068941	20200609	RGD			PMID:11222358|REF_RGD_ID:9588667
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:1354178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581815
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1354178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17571247|PMID:21458988
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:620979	D	RGD:9068941	20200609	RGD			PMID:19429151|REF_RGD_ID:9588608
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:620979	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:hippocampus:	PMID:16380407|REF_RGD_ID:9588242
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:620979	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney:	PMID:12869365|REF_RGD_ID:9588619
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:620979	D	RGD:9068941	20200609	RGD		mRNA:increased expression:adrenal gland:	PMID:24717552|REF_RGD_ID:9590296
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1354178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581815
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1552151	D	RGD:9068941	20200609	RGD			PMID:20584988|REF_RGD_ID:9588671
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9002304	Prostatic Neoplasms	treatment	ISO	RGD:1552151	D	RGD:9068941	20200609	RGD			PMID:24038143|REF_RGD_ID:9588628
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1354178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25194984
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9002488	Peritoneal Fibrosis		ISO	RGD:620979	D	RGD:9068941	20200609	RGD		protein:increased expression:peritoneum:	PMID:25256793|REF_RGD_ID:9588609
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1354178	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:25741868
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9002762	Ovarian Neoplasms	susceptibility	ISO	RGD:1354178	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs2228611,rs759920 (human)	PMID:23666104|REF_RGD_ID:9588645
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1354178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19723570
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9002928	Colonic Neoplasms	treatment	ISO	RGD:620979	D	RGD:9068941	20200609	RGD			PMID:19723570|REF_RGD_ID:9588972
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9003036	Oral Lichen Planus		ISO	RGD:1354178	D	RGD:9068941	20200609	RGD		protein:increased expression:mouth mucosa:	PMID:22236544|REF_RGD_ID:9589075
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1354178	D	RGD:9068941	20200609	RGD		protein:increased expression	PMID:17196739|REF_RGD_ID:2301221
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9004030	Pituitary Stalk Interruption Syndrome		ISO	RGD:1354178	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pituitary stalk interruption syndrome	PMID:25741868
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9004078	Pancreatic Intraepithelial Neoplasia		ISO	RGD:1354178	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:19424621|REF_RGD_ID:9588974
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9004265	Endometrioid Carcinomas		ISO	RGD:1354178	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:uterus:	PMID:15721400|REF_RGD_ID:9588596
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1354178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21532572
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1354178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28544374
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9004866	Ataxia		ISO	RGD:1354178	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:28492532
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive muscle weakness	PMID:17576681|PMID:28492532|PMID:9536098
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:28492532
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9006302	Binge Drinking		ISO	RGD:1552151	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus accumbens:	PMID:23423140|REF_RGD_ID:9588287
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9007702	Carcinogenesis	disease_progression	ISO	RGD:620979	D	RGD:9068941	20200609	RGD			PMID:21163286|REF_RGD_ID:9588222
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1354178	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:uterus:	PMID:15721400|REF_RGD_ID:9588596
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9007736	Vertigo		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9007817	Macroglossia		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:28492532
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9008443	Colorectal Neoplasms	treatment	ISO	RGD:620979	D	RGD:9068941	20200609	RGD			PMID:23717604|REF_RGD_ID:9588299
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1354178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22520950|PMID:28544374
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9009133	acanthocytosis		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthocytosis	PMID:25741868
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1354178	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:T cell:	PMID:21595664|REF_RGD_ID:9588656
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9074	systemic lupus erythematosus	no_association	ISO	RGD:1354178	D	RGD:9068941	20200609	RGD			PMID:18194272|REF_RGD_ID:9588670
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:620979	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver:	PMID:21818837|REF_RGD_ID:7207079
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9834	hyperopia		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:986	alopecia areata		ISO	RGD:1354178	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mononuclear cell:	PMID:21936853|REF_RGD_ID:9587460
8716438	Dnmt1	DNA methyltransferase 1	gene	DOID:9970	obesity		ISO	RGD:1354178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
8716485	Ifi16	interferon gamma inducible protein 16	gene	DOID:10534	stomach cancer		ISO	RGD:1344171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8716485	Ifi16	interferon gamma inducible protein 16	gene	DOID:1324	lung cancer		ISO	RGD:1344171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8716485	Ifi16	interferon gamma inducible protein 16	gene	DOID:2394	ovarian cancer		ISO	RGD:1344171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8716485	Ifi16	interferon gamma inducible protein 16	gene	DOID:5041	esophageal cancer		ISO	RGD:1344171	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8716485	Ifi16	interferon gamma inducible protein 16	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8716485	Ifi16	interferon gamma inducible protein 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716485	Ifi16	interferon gamma inducible protein 16	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8716485	Ifi16	interferon gamma inducible protein 16	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8716485	Ifi16	interferon gamma inducible protein 16	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1557521	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8716485	Ifi16	interferon gamma inducible protein 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8716486	Laptm5	lysosomal protein transmembrane 5	gene	DOID:0060058	lymphoma		ISO	RGD:1354375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8716486	Laptm5	lysosomal protein transmembrane 5	gene	DOID:10534	stomach cancer		ISO	RGD:1354375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8716486	Laptm5	lysosomal protein transmembrane 5	gene	DOID:1909	melanoma		ISO	RGD:1354375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8716486	Laptm5	lysosomal protein transmembrane 5	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1354375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
8716486	Laptm5	lysosomal protein transmembrane 5	gene	DOID:4362	cervical cancer		ISO	RGD:1354375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8716486	Laptm5	lysosomal protein transmembrane 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1354375	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8716486	Laptm5	lysosomal protein transmembrane 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716486	Laptm5	lysosomal protein transmembrane 5	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1354375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8716486	Laptm5	lysosomal protein transmembrane 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8716527	Figla	folliculogenesis specific bHLH transcription factor	gene	DOID:0080863	primary ovarian insufficiency 6		ISO	RGD:1602165	D	RGD:7240710	20180130	OMIM			
8716527	Figla	folliculogenesis specific bHLH transcription factor	gene	DOID:0080863	primary ovarian insufficiency 6		ISO	RGD:1602165	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FIGLA-related condition | ClinVar Annotator: match by term: Premature ovarian failure 6	PMID:25314148|PMID:25741868
8716527	Figla	folliculogenesis specific bHLH transcription factor	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1602165	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868
8716527	Figla	folliculogenesis specific bHLH transcription factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8716527	Figla	folliculogenesis specific bHLH transcription factor	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1602165	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868
8716527	Figla	folliculogenesis specific bHLH transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716527	Figla	folliculogenesis specific bHLH transcription factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8716527	Figla	folliculogenesis specific bHLH transcription factor	gene	DOID:630	genetic disease		ISO	RGD:1602165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8716527	Figla	folliculogenesis specific bHLH transcription factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8716554	Cst8	cystatin 8	gene	DOID:12336	male infertility		ISO	RGD:736077	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20811015
8716554	Cst8	cystatin 8	gene	DOID:4362	cervical cancer		ISO	RGD:736077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8716554	Cst8	cystatin 8	gene	DOID:5041	esophageal cancer		ISO	RGD:736077	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8716577	Gfral	GDNF family receptor alpha like	gene	DOID:0060058	lymphoma		ISO	RGD:1604920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8716577	Gfral	GDNF family receptor alpha like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8716577	Gfral	GDNF family receptor alpha like	gene	DOID:5041	esophageal cancer		ISO	RGD:1604920	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8716593	Hdgf	heparin binding growth factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8716593	Hdgf	heparin binding growth factor	gene	DOID:10534	stomach cancer		ISO	RGD:735331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8716593	Hdgf	heparin binding growth factor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8716593	Hdgf	heparin binding growth factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8716593	Hdgf	heparin binding growth factor	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:735331	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8716593	Hdgf	heparin binding growth factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716593	Hdgf	heparin binding growth factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8716606	Card9	caspase recruitment domain family member 9	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:732385	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21983784
8716606	Card9	caspase recruitment domain family member 9	gene	DOID:0060058	lymphoma		ISO	RGD:732385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
8716606	Card9	caspase recruitment domain family member 9	gene	DOID:1115	sarcoma		ISO	RGD:732385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8716606	Card9	caspase recruitment domain family member 9	gene	DOID:1324	lung cancer		ISO	RGD:732385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8716606	Card9	caspase recruitment domain family member 9	gene	DOID:1909	melanoma		ISO	RGD:732385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8716606	Card9	caspase recruitment domain family member 9	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:732385	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25305756
8716606	Card9	caspase recruitment domain family member 9	gene	DOID:3275	thymoma		ISO	RGD:732385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8716606	Card9	caspase recruitment domain family member 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8716606	Card9	caspase recruitment domain family member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8716606	Card9	caspase recruitment domain family member 9	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:732385	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:25741868
8716606	Card9	caspase recruitment domain family member 9	gene	DOID:630	genetic disease		ISO	RGD:732385	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8716606	Card9	caspase recruitment domain family member 9	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:732385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
8716606	Card9	caspase recruitment domain family member 9	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:732385	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743469
8716606	Card9	caspase recruitment domain family member 9	gene	DOID:8466	retinal degeneration		ISO	RGD:708370	D	RGD:9068941	20230525	RGD		associated with hyperaldosterone; mRNA:decreased expression:retina (rat)	PMID:29713904|REF_RGD_ID:152025547
8716606	Card9	caspase recruitment domain family member 9	gene	DOID:8577	ulcerative colitis		ISO	RGD:732385	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20228799
8716606	Card9	caspase recruitment domain family member 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
8716606	Card9	caspase recruitment domain family member 9	gene	DOID:9004745	RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES		ISO	RGD:708370	D	RGD:9068941	20230525	RGD		associated with hyperaldosterone; mRNA:decreased expression:retina (rat)	PMID:29713904|REF_RGD_ID:152025547
8716606	Card9	caspase recruitment domain family member 9	gene	DOID:9005249	Immunodeficiency 103		ISO	RGD:732385	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: CARD9-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS	PMID:19864672|PMID:23335372|PMID:24131138|PMID:24231284|PMID:25702837|PMID:25741868|PMID:25933095|PMID:26038974|PMID:27777981|PMID:28492532|PMID:29307770|PMID:30537277|PMID:31102464|PMID:31414217|PMID:32888943|PMID:33558980|PMID:34234782
8716606	Card9	caspase recruitment domain family member 9	gene	DOID:9005249	Immunodeficiency 103	susceptibility	ISO	RGD:732385	D	RGD:7240710	20220629	OMIM			
8716606	Card9	caspase recruitment domain family member 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8716606	Card9	caspase recruitment domain family member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8716639	Rph3a	rabphilin 3A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8716639	Rph3a	rabphilin 3A	gene	DOID:0080600	COVID-19		ISO	RGD:1347244	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8716639	Rph3a	rabphilin 3A	gene	DOID:1059	intellectual disability		ISO	RGD:1347244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	
8716639	Rph3a	rabphilin 3A	gene	DOID:10892	hypospadias		ISO	RGD:1347244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	
8716639	Rph3a	rabphilin 3A	gene	DOID:1115	sarcoma		ISO	RGD:1347244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8716639	Rph3a	rabphilin 3A	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1347244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	
8716639	Rph3a	rabphilin 3A	gene	DOID:1826	epilepsy		ISO	RGD:1347244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8716639	Rph3a	rabphilin 3A	gene	DOID:1909	melanoma		ISO	RGD:1347244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8716639	Rph3a	rabphilin 3A	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1347244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	
8716639	Rph3a	rabphilin 3A	gene	DOID:630	genetic disease		ISO	RGD:1347244	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8716639	Rph3a	rabphilin 3A	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1347244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
8716639	Rph3a	rabphilin 3A	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1347244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
8716639	Rph3a	rabphilin 3A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
8716639	Rph3a	rabphilin 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8716732	Pigf	phosphatidylinositol glycan anchor biosynthesis class F	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8716732	Pigf	phosphatidylinositol glycan anchor biosynthesis class F	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8716732	Pigf	phosphatidylinositol glycan anchor biosynthesis class F	gene	DOID:5041	esophageal cancer		ISO	RGD:1351645	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8716732	Pigf	phosphatidylinositol glycan anchor biosynthesis class F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716732	Pigf	phosphatidylinositol glycan anchor biosynthesis class F	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8716732	Pigf	phosphatidylinositol glycan anchor biosynthesis class F	gene	DOID:9001770	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME		ISO	RGD:1351645	D	RGD:7240710	20210818	OMIM			
8716732	Pigf	phosphatidylinositol glycan anchor biosynthesis class F	gene	DOID:9001770	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME		ISO	RGD:1351645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME | ClinVar Annotator: match by term: PIGF-related condition	
8716765	Cd47	CD47 molecule	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8716765	Cd47	CD47 molecule	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8716765	Cd47	CD47 molecule	gene	DOID:3275	thymoma		ISO	RGD:737350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8716765	Cd47	CD47 molecule	gene	DOID:3312	bipolar disorder		ISO	RGD:737350	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
8716765	Cd47	CD47 molecule	gene	DOID:4362	cervical cancer		ISO	RGD:737350	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8716765	Cd47	CD47 molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:737350	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8716765	Cd47	CD47 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716765	Cd47	CD47 molecule	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:737350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8716765	Cd47	CD47 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8716765	Cd47	CD47 molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8716765	Cd47	CD47 molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8716803	Slc38a12	solute carrier family 38 member 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8716803	Slc38a12	solute carrier family 38 member 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8716803	Slc38a12	solute carrier family 38 member 12	gene	DOID:1115	sarcoma		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8716803	Slc38a12	solute carrier family 38 member 12	gene	DOID:1909	melanoma		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8716803	Slc38a12	solute carrier family 38 member 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8716803	Slc38a12	solute carrier family 38 member 12	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1606542	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8716803	Slc38a12	solute carrier family 38 member 12	gene	DOID:4362	cervical cancer		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8716803	Slc38a12	solute carrier family 38 member 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716803	Slc38a12	solute carrier family 38 member 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8716803	Slc38a12	solute carrier family 38 member 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8716819	Prpf3	pre-mRNA processing factor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8716819	Prpf3	pre-mRNA processing factor 3	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25741868
8716819	Prpf3	pre-mRNA processing factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8716819	Prpf3	pre-mRNA processing factor 3	gene	DOID:0110356	retinitis pigmentosa 18		ISO	RGD:1321525	D	RGD:7240710	20180130	OMIM			
8716819	Prpf3	pre-mRNA processing factor 3	gene	DOID:0110356	retinitis pigmentosa 18		ISO	RGD:1321525	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PRPF3-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 18 | ClinVar Annotator: match by term: Retinitis pigmentosa 18	PMID:11773002|PMID:15085354|PMID:16799052|PMID:17517693|PMID:17932117|PMID:20309403|PMID:20811066|PMID:21378395|PMID:25111227|PMID:25741868|PMID:27898983|PMID:28492532|PMID:28559085|PMID:28848678|PMID:29847639|PMID:31054281|PMID:31456290|PMID:31816670|PMID:32036094|PMID:32037395|PMID:32531858|PMID:33576794|PMID:33749171|PMID:35138024|PMID:36460718
8716819	Prpf3	pre-mRNA processing factor 3	gene	DOID:0110375	retinitis pigmentosa 40		ISO	RGD:1321525	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 40	PMID:11773002|PMID:15085354|PMID:17932117|PMID:20309403|PMID:20811066|PMID:21378395|PMID:25111227|PMID:25741868|PMID:27898983|PMID:28492532|PMID:28559085|PMID:28848678|PMID:29847639|PMID:31054281|PMID:31456290|PMID:31816670|PMID:32037395|PMID:32531858|PMID:33749171|PMID:35138024|PMID:36460718
8716819	Prpf3	pre-mRNA processing factor 3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321525	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11773002|PMID:15085354|PMID:17932117|PMID:20309403|PMID:20811066|PMID:21378395|PMID:25111227|PMID:25741868|PMID:27898983|PMID:28492532|PMID:28559085|PMID:28848678|PMID:29847639|PMID:31054281|PMID:31456290|PMID:31816670|PMID:32037395|PMID:32531858|PMID:33749171|PMID:35138024|PMID:36460718
8716819	Prpf3	pre-mRNA processing factor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8716819	Prpf3	pre-mRNA processing factor 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8716819	Prpf3	pre-mRNA processing factor 3	gene	DOID:3070	high grade glioma		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8716819	Prpf3	pre-mRNA processing factor 3	gene	DOID:3275	thymoma		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8716819	Prpf3	pre-mRNA processing factor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8716819	Prpf3	pre-mRNA processing factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716819	Prpf3	pre-mRNA processing factor 3	gene	DOID:630	genetic disease		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8716819	Prpf3	pre-mRNA processing factor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8716819	Prpf3	pre-mRNA processing factor 3	gene	DOID:8501	fundus dystrophy		ISO	RGD:1321525	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11773002|PMID:15085354|PMID:16799052|PMID:17517693|PMID:17932117|PMID:20309403|PMID:20811066|PMID:21378395|PMID:25111227|PMID:25741868|PMID:27886254|PMID:27898983|PMID:28492532|PMID:28559085|PMID:28848678|PMID:29847639|PMID:31054281|PMID:31456290|PMID:31816670|PMID:32036094|PMID:32037395|PMID:32531858|PMID:33576794|PMID:33749171|PMID:35138024|PMID:36460718
8716819	Prpf3	pre-mRNA processing factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8716819	Prpf3	pre-mRNA processing factor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8716819	Prpf3	pre-mRNA processing factor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8716851	Usp54	ubiquitin specific peptidase 54	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8716851	Usp54	ubiquitin specific peptidase 54	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8716851	Usp54	ubiquitin specific peptidase 54	gene	DOID:1324	lung cancer		ISO	RGD:1343407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8716851	Usp54	ubiquitin specific peptidase 54	gene	DOID:1909	melanoma		ISO	RGD:1343407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8716851	Usp54	ubiquitin specific peptidase 54	gene	DOID:4362	cervical cancer		ISO	RGD:1343407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8716851	Usp54	ubiquitin specific peptidase 54	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716851	Usp54	ubiquitin specific peptidase 54	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8716851	Usp54	ubiquitin specific peptidase 54	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8716887	Lsm8	LSM8 homolog, U6 small nuclear RNA associated	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8716887	Lsm8	LSM8 homolog, U6 small nuclear RNA associated	gene	DOID:0060058	lymphoma		ISO	RGD:1318211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8716887	Lsm8	LSM8 homolog, U6 small nuclear RNA associated	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8716887	Lsm8	LSM8 homolog, U6 small nuclear RNA associated	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1345558	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: syndromic intellectual disability	PMID:25741868
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:0060488	Pitt-Hopkins syndrome		ISO	RGD:1345558	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pitt-Hopkins syndrome	PMID:25081361|PMID:25741868|PMID:28475857|PMID:29704315|PMID:31130284|PMID:31400068|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1345558	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:0110535	autosomal recessive nonsyndromic deafness 9		ISO	RGD:1345558	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder	PMID:25081361|PMID:25741868|PMID:28475857|PMID:29704315|PMID:31130284|PMID:31400068|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1345558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:0111162	epidermal nevus		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nevus sebaceous	PMID:25741868
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:1059	intellectual disability		ISO	RGD:1345558	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:10907	microcephaly		ISO	RGD:1345558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:10908	hydrocephalus		ISO	RGD:1345558	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:11162	respiratory failure		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1345558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:12849	autistic disorder		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:1826	epilepsy		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:1827	generalized epilepsy		ISO	RGD:1345558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:1924	hypogonadism		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:2030	anxiety disorder		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:2841	asthma		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:630	genetic disease		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:7998	hyperthyroidism		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:9002839	Rahman Syndrome		ISO	RGD:1345558	D	RGD:7240710	20190315	OMIM			
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:9002839	Rahman Syndrome		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: H1-4-related condition | ClinVar Annotator: match by term: HIST1H1E-related neurodevelopmental disorder with multiple anomalies | ClinVar Annotator: match by term: Rahman syndrome	PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:28492532|PMID:29383847|PMID:29704315|PMID:31130284|PMID:31400068|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:9003507	Premature Birth		ISO	RGD:1345558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:9003816	Macrocephaly		ISO	RGD:1345558	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1345558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:25741868
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:9005077	Joint Instability		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:9005616	Micrognathism		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:9008582	Developmental Disease		ISO	RGD:1345558	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:936	brain disease		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:9538	multiple myeloma		ISO	RGD:1345558	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:9834	hyperopia		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100
8716901	H1-4	H1.4 linker histone, cluster member	gene	DOID:9840	esotropia		ISO	RGD:1345558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100
8716920	Mapk6	mitogen-activated protein kinase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8716920	Mapk6	mitogen-activated protein kinase 6	gene	DOID:0080600	COVID-19		ISO	RGD:733646	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8716920	Mapk6	mitogen-activated protein kinase 6	gene	DOID:10534	stomach cancer		ISO	RGD:733646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8716920	Mapk6	mitogen-activated protein kinase 6	gene	DOID:1115	sarcoma		ISO	RGD:733646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8716920	Mapk6	mitogen-activated protein kinase 6	gene	DOID:1909	melanoma		ISO	RGD:733646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8716920	Mapk6	mitogen-activated protein kinase 6	gene	DOID:4362	cervical cancer		ISO	RGD:733646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8716920	Mapk6	mitogen-activated protein kinase 6	gene	DOID:5041	esophageal cancer		ISO	RGD:733646	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8716920	Mapk6	mitogen-activated protein kinase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716920	Mapk6	mitogen-activated protein kinase 6	gene	DOID:6039	uveal melanoma		ISO	RGD:733646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8716920	Mapk6	mitogen-activated protein kinase 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8716920	Mapk6	mitogen-activated protein kinase 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8716920	Mapk6	mitogen-activated protein kinase 6	gene	DOID:9002221	Hyperplasia		ISO	RGD:733646	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561872
8716920	Mapk6	mitogen-activated protein kinase 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:736886	D	RGD:9068941	20200609	RGD		protein, mRNA:increased expression: colonic mucosa: inflamed tissue only	PMID:16195422|REF_RGD_ID:5688766
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:1324	lung cancer		ISO	RGD:736886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:736886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:24533558|PMID:25741868|PMID:30292630
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:14283	primary hypertrophic osteoarthropathy		ISO	RGD:736886	D	RGD:7240710	20180130	OMIM			
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:14283	primary hypertrophic osteoarthropathy		ISO	RGD:736886	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CLUBBING OF DIGITS | ClinVar Annotator: match by term: CRANIOOSTEOARTHROPATHY | ClinVar Annotator: match by term: Isolated congenital digital clubbing	PMID:18500342|PMID:25741868|PMID:28492532|PMID:32282352
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:1520	colon carcinoma		ISO	RGD:736886	D	RGD:9068941	20200609	RGD		DNA:::adenoviral delivery of human gene in mouse model of colon cancer	PMID:19494278|REF_RGD_ID:5688759
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:305	carcinoma	treatment	ISO	RGD:620087	D	RGD:9068941	20200609	RGD			PMID:18058808|REF_RGD_ID:11667092
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:5394	prolactinoma		ISO	RGD:736886	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:pituitary gland	PMID:22580984|REF_RGD_ID:11667097
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:6255	growth hormone secreting pituitary adenoma		ISO	RGD:736886	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:pituitary gland	PMID:22580984|REF_RGD_ID:11667097
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:630	genetic disease		ISO	RGD:736886	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:6432	pulmonary hypertension		ISO	RGD:736886	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:24657469|REF_RGD_ID:11667099
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:750	peptic ulcer disease	treatment	ISO	RGD:620087	D	RGD:9068941	20200609	RGD			PMID:23884819|REF_RGD_ID:11667098
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:9000622	Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1		ISO	RGD:736886	D	RGD:7240710	20180130	OMIM			
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:9000622	Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1		ISO	RGD:736886	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CRANIOOSTEOARTHROPATHY | ClinVar Annotator: match by term: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 | ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | ClinVar Annotator: match by term: PHO, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: hypertrophic osteoarthropathy, primary, autosomal recessive, 1	PMID:16199547|PMID:18500342|PMID:19306095|PMID:19568269|PMID:24533558|PMID:24816859|PMID:25741868|PMID:28492532|PMID:29758562|PMID:30292630|PMID:32282352|PMID:35813463
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:9000972	Fever		ISO	RGD:620087	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver, lung	PMID:12399253|REF_RGD_ID:2316279
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736886	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:9004484	Sepsis		ISO	RGD:736887	D	RGD:9068941	20200609	RGD		protein: decreased expression	PMID:9603077|REF_RGD_ID:5688768
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:736886	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11352223
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:9006065	Arthralgia		ISO	RGD:736886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:25741868|PMID:30292630
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced		ISO	RGD:620087	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:24657469|REF_RGD_ID:11667099
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:9006195	Medullary Carcinomas		ISO	RGD:736886	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11352223
8716957	Hpgd	15-hydroxyprostaglandin dehydrogenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8716974	Vamp2	vesicle associated membrane protein 2	gene	DOID:0070309	absence epilepsy		ISO	RGD:735448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868
8716974	Vamp2	vesicle associated membrane protein 2	gene	DOID:1826	epilepsy		ISO	RGD:735448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8716974	Vamp2	vesicle associated membrane protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:735448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8716974	Vamp2	vesicle associated membrane protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8716974	Vamp2	vesicle associated membrane protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716974	Vamp2	vesicle associated membrane protein 2	gene	DOID:630	genetic disease		ISO	RGD:735448	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8716974	Vamp2	vesicle associated membrane protein 2	gene	DOID:9002563	Gait Ataxia		ISO	RGD:735448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868
8716974	Vamp2	vesicle associated membrane protein 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:735448	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
8716974	Vamp2	vesicle associated membrane protein 2	gene	DOID:9004866	Ataxia		ISO	RGD:735448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
8716974	Vamp2	vesicle associated membrane protein 2	gene	DOID:9005460	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS		ISO	RGD:735448	D	RGD:7240710	20200318	OMIM			
8716974	Vamp2	vesicle associated membrane protein 2	gene	DOID:9005460	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS		ISO	RGD:735448	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | ClinVar Annotator: match by term: VAMP2-related condition	PMID:11691998|PMID:15475946|PMID:25741868|PMID:30144509|PMID:32906212|PMID:35468861
8716984	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8716984	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8716984	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1315197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24781735
8716984	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:0070654	desmosterolosis		ISO	RGD:1315197	D	RGD:7240710	20180130	OMIM			
8716984	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:0070654	desmosterolosis		ISO	RGD:1315197	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DESMOSTEROLOSIS | ClinVar Annotator: match by term: DHCR24-related condition | ClinVar Annotator: match by term: Desmosterolosis | ClinVar Annotator: match by term: desmosterolosis	PMID:11519011|PMID:21671375|PMID:21902244|PMID:25741868|PMID:28492532|PMID:33098801|PMID:33619735|PMID:35872528
8716984	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:0080600	COVID-19		ISO	RGD:1315197	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8716984	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:10534	stomach cancer		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8716984	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1315197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23042211
8716984	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:11100	Q fever		ISO	RGD:1315197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16469060
8716984	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:1115	sarcoma		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8716984	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:1324	lung cancer		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8716984	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:3146	lipid metabolism disorder		ISO	RGD:1315197	D	RGD:9068941	20200609	RGD		desmosterolosis, OMIM:602398, Y471S, N294T, K306N	PMID:11519011|REF_RGD_ID:1600897
8716984	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:4362	cervical cancer		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8716984	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:5041	esophageal cancer		ISO	RGD:1315197	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8716984	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:5419	schizophrenia		ISO	RGD:1315197	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8716984	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8716984	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:630	genetic disease		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:36413997
8716984	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intrauterine growth retardation	PMID:25741868
8716984	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8716984	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:9005616	Micrognathism		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
8716984	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8716984	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1315197	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	PMID:25741868|PMID:33027564|PMID:37236975
8717000	Tmem86a	transmembrane protein 86A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717000	Tmem86a	transmembrane protein 86A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717000	Tmem86a	transmembrane protein 86A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8717046	Eif3g	eukaryotic translation initiation factor 3 subunit G	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717046	Eif3g	eukaryotic translation initiation factor 3 subunit G	gene	DOID:10534	stomach cancer		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8717046	Eif3g	eukaryotic translation initiation factor 3 subunit G	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8717046	Eif3g	eukaryotic translation initiation factor 3 subunit G	gene	DOID:4362	cervical cancer		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8717046	Eif3g	eukaryotic translation initiation factor 3 subunit G	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717046	Eif3g	eukaryotic translation initiation factor 3 subunit G	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8717046	Eif3g	eukaryotic translation initiation factor 3 subunit G	gene	DOID:9002925	Narcolepsy 1		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 1 narcolepsy	PMID:25669430
8717046	Eif3g	eukaryotic translation initiation factor 3 subunit G	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717066	Kif23	kinesin family member 23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8717066	Kif23	kinesin family member 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717066	Kif23	kinesin family member 23	gene	DOID:0080600	COVID-19		ISO	RGD:1318460	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8717066	Kif23	kinesin family member 23	gene	DOID:0111399	congenital dyserythropoietic anemia type IIIa		ISO	RGD:1318460	D	RGD:7240710	20220406	OMIM			
8717066	Kif23	kinesin family member 23	gene	DOID:0111399	congenital dyserythropoietic anemia type IIIa		ISO	RGD:1318460	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIA | ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type III | ClinVar Annotator: match by term: KIF23-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8717066	Kif23	kinesin family member 23	gene	DOID:10534	stomach cancer		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8717066	Kif23	kinesin family member 23	gene	DOID:10907	microcephaly		ISO	RGD:1318460	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:26539891
8717066	Kif23	kinesin family member 23	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8717066	Kif23	kinesin family member 23	gene	DOID:1338	congenital dyserythropoietic anemia		ISO	RGD:1318460	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	
8717066	Kif23	kinesin family member 23	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8717066	Kif23	kinesin family member 23	gene	DOID:4362	cervical cancer		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8717066	Kif23	kinesin family member 23	gene	DOID:5041	esophageal cancer		ISO	RGD:1318460	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8717066	Kif23	kinesin family member 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717066	Kif23	kinesin family member 23	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8717066	Kif23	kinesin family member 23	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8717066	Kif23	kinesin family member 23	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717066	Kif23	kinesin family member 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8717066	Kif23	kinesin family member 23	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8717092	Prkd3	protein kinase D3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717092	Prkd3	protein kinase D3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8717092	Prkd3	protein kinase D3	gene	DOID:2394	ovarian cancer		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8717092	Prkd3	protein kinase D3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8717092	Prkd3	protein kinase D3	gene	DOID:4362	cervical cancer		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8717092	Prkd3	protein kinase D3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8717092	Prkd3	protein kinase D3	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8717092	Prkd3	protein kinase D3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717092	Prkd3	protein kinase D3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8717092	Prkd3	protein kinase D3	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8717092	Prkd3	protein kinase D3	gene	DOID:9004657	Weight Gain		ISO	RGD:1353868	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8717092	Prkd3	protein kinase D3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8717092	Prkd3	protein kinase D3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717204	Cdk15	cyclin dependent kinase 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717204	Cdk15	cyclin dependent kinase 15	gene	DOID:3275	thymoma		ISO	RGD:1314644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8717204	Cdk15	cyclin dependent kinase 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1314644	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8717204	Cdk15	cyclin dependent kinase 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717204	Cdk15	cyclin dependent kinase 15	gene	DOID:6039	uveal melanoma		ISO	RGD:1314644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8717204	Cdk15	cyclin dependent kinase 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8717228	Psmf1	proteasome inhibitor subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8717228	Psmf1	proteasome inhibitor subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1345633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8717228	Psmf1	proteasome inhibitor subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8717228	Psmf1	proteasome inhibitor subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1345633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8717228	Psmf1	proteasome inhibitor subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345633	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8717228	Psmf1	proteasome inhibitor subunit 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8717228	Psmf1	proteasome inhibitor subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717228	Psmf1	proteasome inhibitor subunit 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1345633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8717228	Psmf1	proteasome inhibitor subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8717228	Psmf1	proteasome inhibitor subunit 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1345633	D	RGD:8554872	20241231	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder with motor features	PMID:25741868
8717228	Psmf1	proteasome inhibitor subunit 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1345633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8717240	Iqank1	IQ motif and ankyrin repeat containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:12789538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8717240	Iqank1	IQ motif and ankyrin repeat containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:12789538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717240	Iqank1	IQ motif and ankyrin repeat containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:12789538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8717272	Adora2b	adenosine A2b receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:731019	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8717272	Adora2b	adenosine A2b receptor	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:731019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27590504
8717272	Adora2b	adenosine A2b receptor	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:731019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27757725
8717272	Adora2b	adenosine A2b receptor	gene	DOID:9004484	Sepsis		ISO	RGD:731019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27757725
8717272	Adora2b	adenosine A2b receptor	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:731019	D	RGD:9068941	20230128	CTD		CTD Direct Evidence: therapeutic	PMID:35292334
8717311	Tns4	tensin 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8717311	Tns4	tensin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717311	Tns4	tensin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1605916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8717311	Tns4	tensin 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8717311	Tns4	tensin 4	gene	DOID:1324	lung cancer		ISO	RGD:1605916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8717311	Tns4	tensin 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8717311	Tns4	tensin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1605916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8717311	Tns4	tensin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1605916	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8717311	Tns4	tensin 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8717311	Tns4	tensin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717311	Tns4	tensin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717311	Tns4	tensin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8717328	Spred3	sprouty related EVH1 domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1606081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8717328	Spred3	sprouty related EVH1 domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717328	Spred3	sprouty related EVH1 domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717328	Spred3	sprouty related EVH1 domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8717346	Apeh	acylaminoacyl-peptide hydrolase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8717346	Apeh	acylaminoacyl-peptide hydrolase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717346	Apeh	acylaminoacyl-peptide hydrolase	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
8717346	Apeh	acylaminoacyl-peptide hydrolase	gene	DOID:10534	stomach cancer		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8717346	Apeh	acylaminoacyl-peptide hydrolase	gene	DOID:1324	lung cancer		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8717346	Apeh	acylaminoacyl-peptide hydrolase	gene	DOID:1909	melanoma		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8717346	Apeh	acylaminoacyl-peptide hydrolase	gene	DOID:3275	thymoma		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8717346	Apeh	acylaminoacyl-peptide hydrolase	gene	DOID:4362	cervical cancer		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8717346	Apeh	acylaminoacyl-peptide hydrolase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8717346	Apeh	acylaminoacyl-peptide hydrolase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8717346	Apeh	acylaminoacyl-peptide hydrolase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717346	Apeh	acylaminoacyl-peptide hydrolase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8717346	Apeh	acylaminoacyl-peptide hydrolase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717346	Apeh	acylaminoacyl-peptide hydrolase	gene	DOID:9256	colorectal cancer		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8717379	Clec4e	C-type lectin domain family 4 member E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717379	Clec4e	C-type lectin domain family 4 member E	gene	DOID:1115	sarcoma		ISO	RGD:1344050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8717379	Clec4e	C-type lectin domain family 4 member E	gene	DOID:1909	melanoma		ISO	RGD:1344050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8717379	Clec4e	C-type lectin domain family 4 member E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344050	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717379	Clec4e	C-type lectin domain family 4 member E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344050	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8717379	Clec4e	C-type lectin domain family 4 member E	gene	DOID:850	lung disease		ISO	RGD:1344050	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21602193
8717379	Clec4e	C-type lectin domain family 4 member E	gene	DOID:9000998	Brain Injuries		ISO	RGD:1344050	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21549006
8717379	Clec4e	C-type lectin domain family 4 member E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717395	Larp1b	La ribonucleoprotein 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717395	Larp1b	La ribonucleoprotein 1B	gene	DOID:10283	prostate cancer		ISO	RGD:1605666	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8717395	Larp1b	La ribonucleoprotein 1B	gene	DOID:10283	prostate cancer		ISO	RGD:1605666	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8717395	Larp1b	La ribonucleoprotein 1B	gene	DOID:1909	melanoma		ISO	RGD:1605666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8717395	Larp1b	La ribonucleoprotein 1B	gene	DOID:3275	thymoma		ISO	RGD:1605666	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8717395	Larp1b	La ribonucleoprotein 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1605666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8717395	Larp1b	La ribonucleoprotein 1B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8717395	Larp1b	La ribonucleoprotein 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717395	Larp1b	La ribonucleoprotein 1B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8717395	Larp1b	La ribonucleoprotein 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717395	Larp1b	La ribonucleoprotein 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8717395	Larp1b	La ribonucleoprotein 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8717395	Larp1b	La ribonucleoprotein 1B	gene	DOID:9256	colorectal cancer		ISO	RGD:1605666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8717418	Gnb2	G protein subunit beta 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8717418	Gnb2	G protein subunit beta 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717418	Gnb2	G protein subunit beta 2	gene	DOID:0051062	ischemic stroke		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ischemic stroke	PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358
8717418	Gnb2	G protein subunit beta 2	gene	DOID:0060879	primary hypomagnesemia		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypomagnesemia	PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358
8717418	Gnb2	G protein subunit beta 2	gene	DOID:0060885	renal hypomagnesemia 2		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal magnesium wasting	PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358
8717418	Gnb2	G protein subunit beta 2	gene	DOID:0070297	primary microcephaly		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
8717418	Gnb2	G protein subunit beta 2	gene	DOID:0080016	spina bifida		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spina bifida	PMID:25741868
8717418	Gnb2	G protein subunit beta 2	gene	DOID:10480	diaphragmatic eventration		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diaphragmatic eventration	PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358
8717418	Gnb2	G protein subunit beta 2	gene	DOID:10534	stomach cancer		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8717418	Gnb2	G protein subunit beta 2	gene	DOID:11111	hydronephrosis		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
8717418	Gnb2	G protein subunit beta 2	gene	DOID:11486	Horner's syndrome		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Horner syndrome	PMID:25741868
8717418	Gnb2	G protein subunit beta 2	gene	DOID:11758	iron deficiency anemia		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iron deficiency anemia	PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358
8717418	Gnb2	G protein subunit beta 2	gene	DOID:11836	clubfoot		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
8717418	Gnb2	G protein subunit beta 2	gene	DOID:12215	oligohydramnios		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
8717418	Gnb2	G protein subunit beta 2	gene	DOID:12849	autistic disorder		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8717418	Gnb2	G protein subunit beta 2	gene	DOID:1555	urticaria		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Urticaria	PMID:25741868
8717418	Gnb2	G protein subunit beta 2	gene	DOID:1682	congenital heart disease		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358
8717418	Gnb2	G protein subunit beta 2	gene	DOID:1909	melanoma		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8717418	Gnb2	G protein subunit beta 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8717418	Gnb2	G protein subunit beta 2	gene	DOID:2846	bruxism		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bruxism	PMID:25741868
8717418	Gnb2	G protein subunit beta 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8717418	Gnb2	G protein subunit beta 2	gene	DOID:4362	cervical cancer		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8717418	Gnb2	G protein subunit beta 2	gene	DOID:5041	esophageal cancer		ISO	RGD:733685	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8717418	Gnb2	G protein subunit beta 2	gene	DOID:535	sleep disorder		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868
8717418	Gnb2	G protein subunit beta 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8717418	Gnb2	G protein subunit beta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717418	Gnb2	G protein subunit beta 2	gene	DOID:583	hemolytic anemia		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia	PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358
8717418	Gnb2	G protein subunit beta 2	gene	DOID:630	genetic disease		ISO	RGD:733685	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8717418	Gnb2	G protein subunit beta 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358
8717418	Gnb2	G protein subunit beta 2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358
8717418	Gnb2	G protein subunit beta 2	gene	DOID:9001288	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES		ISO	RGD:733685	D	RGD:7240710	20211027	OMIM			
8717418	Gnb2	G protein subunit beta 2	gene	DOID:9001288	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES		ISO	RGD:733685	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and dysmorphic facies	PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358
8717418	Gnb2	G protein subunit beta 2	gene	DOID:9002070	Sick Sinus Syndrome 4		ISO	RGD:733685	D	RGD:7240710	20210818	OMIM			
8717418	Gnb2	G protein subunit beta 2	gene	DOID:9002070	Sick Sinus Syndrome 4		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sick sinus syndrome 4	
8717418	Gnb2	G protein subunit beta 2	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive spastic paraparesis	PMID:25741868
8717418	Gnb2	G protein subunit beta 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
8717418	Gnb2	G protein subunit beta 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717418	Gnb2	G protein subunit beta 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358
8717418	Gnb2	G protein subunit beta 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8717435	G2e3	G2/M-phase specific E3 ubiquitin protein ligase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717435	G2e3	G2/M-phase specific E3 ubiquitin protein ligase	gene	DOID:10534	stomach cancer		ISO	RGD:1321062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8717435	G2e3	G2/M-phase specific E3 ubiquitin protein ligase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8717435	G2e3	G2/M-phase specific E3 ubiquitin protein ligase	gene	DOID:1324	lung cancer		ISO	RGD:1321062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
8717435	G2e3	G2/M-phase specific E3 ubiquitin protein ligase	gene	DOID:1909	melanoma		ISO	RGD:1321062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8717435	G2e3	G2/M-phase specific E3 ubiquitin protein ligase	gene	DOID:3275	thymoma		ISO	RGD:1321062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8717435	G2e3	G2/M-phase specific E3 ubiquitin protein ligase	gene	DOID:5041	esophageal cancer		ISO	RGD:1321062	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8717435	G2e3	G2/M-phase specific E3 ubiquitin protein ligase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8717435	G2e3	G2/M-phase specific E3 ubiquitin protein ligase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717435	G2e3	G2/M-phase specific E3 ubiquitin protein ligase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8717435	G2e3	G2/M-phase specific E3 ubiquitin protein ligase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321062	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8717453	Unc5a	unc-5 netrin receptor A	gene	DOID:10534	stomach cancer		ISO	RGD:1344019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8717453	Unc5a	unc-5 netrin receptor A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8717453	Unc5a	unc-5 netrin receptor A	gene	DOID:5041	esophageal cancer		ISO	RGD:1344019	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8717453	Unc5a	unc-5 netrin receptor A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717453	Unc5a	unc-5 netrin receptor A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8717453	Unc5a	unc-5 netrin receptor A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8717483	Gpr161	G protein-coupled receptor 161	gene	DOID:0050902	medulloblastoma		ISO	RGD:1607069	D	RGD:7240710	20221102	OMIM			
8717483	Gpr161	G protein-coupled receptor 161	gene	DOID:0050902	medulloblastoma		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GPR161-related disorder | ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma	PMID:25741868|PMID:28492532|PMID:29386106|PMID:31609649|PMID:33194646
8717483	Gpr161	G protein-coupled receptor 161	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717483	Gpr161	G protein-coupled receptor 161	gene	DOID:1324	lung cancer		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8717483	Gpr161	G protein-coupled receptor 161	gene	DOID:1909	melanoma		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8717483	Gpr161	G protein-coupled receptor 161	gene	DOID:3070	high grade glioma		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8717483	Gpr161	G protein-coupled receptor 161	gene	DOID:4362	cervical cancer		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8717483	Gpr161	G protein-coupled receptor 161	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8717483	Gpr161	G protein-coupled receptor 161	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717483	Gpr161	G protein-coupled receptor 161	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8717483	Gpr161	G protein-coupled receptor 161	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717483	Gpr161	G protein-coupled receptor 161	gene	DOID:9007661	Dwarfism		ISO	RGD:1607069	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25322266|PMID:25741868|PMID:28492532
8717483	Gpr161	G protein-coupled receptor 161	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8717483	Gpr161	G protein-coupled receptor 161	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:126734315	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor	PMID:28492532
8717521	Capn3	calpain 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:731876	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:15221789|PMID:25741868|PMID:28492532
8717521	Capn3	calpain 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717521	Capn3	calpain 3	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:731876	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: autosomal recessive limb-girdle muscular dystrophy	PMID:10330340|PMID:12461690|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15726252|PMID:15733273|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17702496|PMID:17979987|PMID:17994539|PMID:18055493|PMID:18258189|PMID:18414213|PMID:18563459|PMID:18854869|PMID:19015733|PMID:19226146|PMID:19364062|PMID:19556129|PMID:20517216|PMID:20635405|PMID:21204801|PMID:22006685|PMID:22158424|PMID:22443334|PMID:22926650|PMID:24123366|PMID:24715573|PMID:24803842|PMID:25079074|PMID:25135358|PMID:25741868|PMID:25802880|PMID:25987458|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26886200|PMID:27020652|PMID:27234031|PMID:27262448|PMID:27447704|PMID:27500519|PMID:27708273|PMID:27884173|PMID:28300015|PMID:28403181|PMID:28492532|PMID:28877744|PMID:29797799|PMID:30028523|PMID:30056071|PMID:30500922|PMID:30838351|PMID:30919934|PMID:31069529|PMID:31788660|PMID:31937337|PMID:32403337|PMID:32528171|PMID:3258171|PMID:32668095|PMID:32994280|PMID:33250842|PMID:33337384|PMID:33386810|PMID:34405919|PMID:34440373|PMID:34720847|PMID:34863162|PMID:35157181|PMID:35169782|PMID:35723113|PMID:35731190|PMID:35741838|PMID:36964972|PMID:37526466|PMID:37589857|PMID:37931111|PMID:38374194|PMID:38391941|PMID:38758368|PMID:7720071|PMID:9150160|PMID:9266733|PMID:9309711|PMID:9642272|PMID:9762961|PMID:9777948
8717521	Capn3	calpain 3	gene	DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A		ISO	RGD:731876	D	RGD:7240710	20180130	OMIM			
8717521	Capn3	calpain 3	gene	DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A		ISO	RGD:731876	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A	PMID:10102422|PMID:10330340|PMID:10567047|PMID:10679950|PMID:11053681|PMID:11166169|PMID:11245732|PMID:11297944|PMID:11371436|PMID:11525884|PMID:11731278|PMID:12461690|PMID:12890817|PMID:14578192|PMID:14645990|PMID:14959561|PMID:14981715|PMID:15138196|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:15843148|PMID:15884399|PMID:16001438|PMID:16100770|PMID:16141003|PMID:16199547|PMID:16372320|PMID:16411092|PMID:16542520|PMID:16607617|PMID:16627476|PMID:16650086|PMID:16816913|PMID:1691480|PMID:16971480|PMID:17157502|PMID:17236769|PMID:17258832|PMID:17318636|PMID:17526799|PMID:17562833|PMID:17576681|PMID:17594342|PMID:17596655|PMID:17702496|PMID:17897828|PMID:17979987|PMID:17994539|PMID:18055493|PMID:18073330|PMID:18258189|PMID:18334579|PMID:18337726|PMID:18414213|PMID:18563459|PMID:18854868|PMID:18854869|PMID:19015733|PMID:19048948|PMID:19156839|PMID:19226146|PMID:19285864|PMID:19364062|PMID:19556129|PMID:19763152|PMID:19835634|PMID:20044116|PMID:20301490|PMID:20307669|PMID:20477750|PMID:20517216|PMID:20580976|PMID:20635405|PMID:20686710|PMID:20694146|PMID:21172462|PMID:21204801|PMID:21288883|PMID:21386772|PMID:21520333|PMID:21624972|PMID:21896784|PMID:21984748|PMID:22006685|PMID:22057634|PMID:22079131|PMID:22158424|PMID:22378277|PMID:22406018|PMID:22443334|PMID:22486197|PMID:22505582|PMID:22926650|PMID:23169433|PMID:23553538|PMID:23597518|PMID:23666804|PMID:23677060|PMID:23757202|PMID:23821418|PMID:23864287|PMID:24033266|PMID:24715573|PMID:24803842|PMID:24846670|PMID:25046369|PMID:25079074|PMID:25135358|PMID:25214167|PMID:25215589|PMID:25252031|PMID:25326637|PMID:25512505|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25783436|PMID:25898921|PMID:25987458|PMID:26060040|PMID:26301378|PMID:26363099|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26501342|PMID:26583491|PMID:26632398|PMID:26677118|PMID:26810512|PMID:26886200|PMID:27011640|PMID:27020652|PMID:27023906|PMID:27055500|PMID:27066545|PMID:27066551|PMID:27066573|PMID:27081656|PMID:27142102|PMID:27234031|PMID:2725975|PMID:27259757|PMID:27262448|PMID:27363342|PMID:27431290|PMID:27447704|PMID:27500519|PMID:27558075|PMID:27671536|PMID:27708273|PMID:27818383|PMID:27854218|PMID:27884173|PMID:28103310|PMID:28300015|PMID:28403181|PMID:28492532|PMID:28602176|PMID:28877744|PMID:28881388|PMID:28914264|PMID:28915917|PMID:29149851|PMID:29685414|PMID:29797799|PMID:29970176|PMID:30028523|PMID:30056071|PMID:30107846|PMID:30500922|PMID:30538847|PMID:30564623|PMID:30919934|PMID:31028937|PMID:31066050|PMID:31069529|PMID:31127727|PMID:31130284|PMID:31263448|PMID:31268554|PMID:31410652|PMID:31517061|PMID:31555977|PMID:31589614|PMID:31671740|PMID:31788660|PMID:31862442|PMID:31931849|PMID:31937337|PMID:31980526|PMID:32140910|PMID:32342993|PMID:32403337|PMID:32528171|PMID:32557990|PMID:32576226|PMID:3258171|PMID:32646536|PMID:32668095|PMID:32896923|PMID:32994280|PMID:33107701|PMID:33250842|PMID:33335567|PMID:33337384|PMID:33448235|PMID:33931068|PMID:33963534|PMID:34008892|PMID:34323405|PMID:34355366|PMID:34426522|PMID:34440373|PMID:34602496|PMID:34687219|PMID:34697879|PMID:34720847|PMID:35135626|PMID:35157181|PMID:35169782|PMID:35239206|PMID:35309930|PMID:35734998|PMID:36575883|PMID:37712079|PMID:37852290|PMID:37974208|PMID:7318636|PMID:7720071|PMID:7762565|PMID:7795603|PMID:8624690|PMID:9150160|PMID:9246005|PMID:9266733|PMID:9452114|PMID:9536098|PMID:9642272|PMID:9655129|PMID:9762961|PMID:9771675|PMID:9777948
8717521	Capn3	calpain 3	gene	DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A		ISO	RGD:731876	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A | ClinVar Annotator: match by term: Calpainopathy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy type 2A | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1	PMID:10102422|PMID:10330340|PMID:10567047|PMID:10679950|PMID:10818750|PMID:11166169|PMID:11245732|PMID:11297944|PMID:11371436|PMID:11525884|PMID:11731278|PMID:12461690|PMID:12890817|PMID:14578192|PMID:14645990|PMID:14981715|PMID:15138196|PMID:15221789|PMID:15351423|PMID:1555977|PMID:15689361|PMID:15694138|PMID:15726252|PMID:15733273|PMID:15843148|PMID:15884399|PMID:16001438|PMID:16100770|PMID:16141003|PMID:16199547|PMID:16372320|PMID:16411092|PMID:16542520|PMID:16607617|PMID:16627476|PMID:16650086|PMID:16816913|PMID:16971480|PMID:17157502|PMID:17236769|PMID:17258832|PMID:17318636|PMID:17526799|PMID:17562833|PMID:17576681|PMID:17594342|PMID:17596655|PMID:17702496|PMID:17979987|PMID:17994539|PMID:18055493|PMID:18073330|PMID:18258189|PMID:18334579|PMID:18337726|PMID:18413479|PMID:18414213|PMID:18563459|PMID:18854869|PMID:19015158|PMID:19015733|PMID:19048948|PMID:19226146|PMID:19285864|PMID:19364062|PMID:19556129|PMID:19763152|PMID:19835634|PMID:20044116|PMID:20307669|PMID:20477750|PMID:20517216|PMID:20635405|PMID:20694146|PMID:21204801|PMID:21288883|PMID:21386772|PMID:21520333|PMID:21624972|PMID:21755510|PMID:21896784|PMID:21984748|PMID:22006685|PMID:22057634|PMID:22079131|PMID:22158424|PMID:22406018|PMID:22443334|PMID:22486197|PMID:22926650|PMID:23553538|PMID:23597518|PMID:23666804|PMID:23677060|PMID:23821418|PMID:23864287|PMID:24033266|PMID:24123366|PMID:24715573|PMID:24803842|PMID:24846670|PMID:25046369|PMID:25079074|PMID:25135358|PMID:25214167|PMID:25215589|PMID:25252031|PMID:25326637|PMID:25512505|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25802880|PMID:25987458|PMID:26060040|PMID:26301378|PMID:26404900|PMID:26436962|PMID:26467025|PMID:26484845|PMID:26501342|PMID:26632398|PMID:26677118|PMID:26810512|PMID:26886200|PMID:27011640|PMID:27020652|PMID:27055500|PMID:27066545|PMID:27066551|PMID:27066573|PMID:27081656|PMID:27234031|PMID:2725975|PMID:27259757|PMID:27262448|PMID:27357428|PMID:27363342|PMID:27447704|PMID:27500519|PMID:27558075|PMID:27671536|PMID:27708273|PMID:27818383|PMID:27854218|PMID:27861222|PMID:27884173|PMID:28103310|PMID:28300015|PMID:28403181|PMID:28492532|PMID:28602176|PMID:28877744|PMID:28881388|PMID:28915917|PMID:29382405|PMID:29382717|PMID:29685414|PMID:29797799|PMID:29970176|PMID:30028523|PMID:30056071|PMID:30107846|PMID:30127231|PMID:30500922|PMID:30538847|PMID:30564623|PMID:30665423|PMID:30838351|PMID:30919934|PMID:31028937|PMID:31066050|PMID:31069529|PMID:31127727|PMID:31130284|PMID:31268554|PMID:31407473|PMID:31410652|PMID:31517061|PMID:31555977|PMID:31589614|PMID:31788660|PMID:31862442|PMID:31931849|PMID:31937337|PMID:31980526|PMID:32140910|PMID:32153140|PMID:32342993|PMID:32403337|PMID:32528171|PMID:32557990|PMID:32576226|PMID:32646536|PMID:32668095|PMID:32896923|PMID:32994280|PMID:33107701|PMID:33250842|PMID:33335567|PMID:33337384|PMID:33386810|PMID:33448235|PMID:33505349|PMID:33771552|PMID:33899113|PMID:33931068|PMID:33963534|PMID:34323405|PMID:34355366|PMID:34405919|PMID:34426522|PMID:34440373|PMID:34628793|PMID:34687219|PMID:34697879|PMID:34720847|PMID:34863162|PMID:35135626|PMID:35157181|PMID:35169782|PMID:35198268|PMID:35239206|PMID:35309930|PMID:35465312|PMID:35723113|PMID:35731190|PMID:35734998|PMID:35741838|PMID:36213152|PMID:36374152|PMID:36575883|PMID:36703223|PMID:36865086|PMID:36964972|PMID:37273706|PMID:37377599|PMID:37526466|PMID:37589857|PMID:37712079|PMID:37852290|PMID:37900180|PMID:37931111|PMID:37974208|PMID:38361118|PMID:38374194|PMID:38391941|PMID:38544359|PMID:38758368|PMID:38812636|PMID:38830343|PMID:39188286|PMID:39283294|PMID:39678382|PMID:39973406|PMID:40237364|PMID:7318636|PMID:7720071|PMID:7762565|PMID:7795603|PMID:8624690|PMID:9027854|PMID:9150160|PMID:9246005|PMID:9266733|PMID:9452114|PMID:9536098|PMID:9642272|PMID:9655129|PMID:9762961|PMID:9771675|PMID:9777948
8717521	Capn3	calpain 3	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:731876	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:15726252|PMID:16141003|PMID:16411092|PMID:17157502|PMID:17236769|PMID:17979987|PMID:18055493|PMID:20635405|PMID:22158424|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26467025|PMID:26886200|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:30028523|PMID:30919934|PMID:31788660|PMID:33386810|PMID:34405919|PMID:34720847|PMID:34863162|PMID:35169782|PMID:35731190|PMID:37526466|PMID:37589857|PMID:37931111|PMID:38391941|PMID:38758368|PMID:39548682
8717521	Capn3	calpain 3	gene	DOID:0111220	centronuclear myopathy 2		ISO	RGD:731876	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myopathy, centronuclear, 2	PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8717521	Capn3	calpain 3	gene	DOID:0111338	isolated elevated serum creatine phosphokinase levels		ISO	RGD:731876	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC	PMID:15726252|PMID:16141003|PMID:16411092|PMID:17157502|PMID:17236769|PMID:17979987|PMID:18055493|PMID:20635405|PMID:22158424|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26467025|PMID:26886200|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:30028523|PMID:30919934|PMID:31788660|PMID:33386810|PMID:34405919|PMID:34720847|PMID:34863162|PMID:35731190|PMID:37526466|PMID:37589857|PMID:37931111|PMID:38391941|PMID:38758368
8717521	Capn3	calpain 3	gene	DOID:10534	stomach cancer		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
8717521	Capn3	calpain 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8717521	Capn3	calpain 3	gene	DOID:1115	sarcoma		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8717521	Capn3	calpain 3	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular Dystrophies, Limb-Girdle	PMID:25741868
8717521	Capn3	calpain 3	gene	DOID:11830	myopia		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:14981715|PMID:16141003|PMID:28492532|PMID:30564623
8717521	Capn3	calpain 3	gene	DOID:1287	cardiovascular system disease		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:14981715|PMID:16141003|PMID:28492532
8717521	Capn3	calpain 3	gene	DOID:1324	lung cancer		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
8717521	Capn3	calpain 3	gene	DOID:1596	depressive disorder		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:14981715|PMID:16141003|PMID:28492532
8717521	Capn3	calpain 3	gene	DOID:1909	melanoma		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8717521	Capn3	calpain 3	gene	DOID:2030	anxiety disorder		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:14981715|PMID:16141003|PMID:28492532
8717521	Capn3	calpain 3	gene	DOID:219	colon cancer		ISO	RGD:731876	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:15221789|PMID:25741868|PMID:28492532
8717521	Capn3	calpain 3	gene	DOID:318	progressive muscular atrophy		ISO	RGD:731876	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive spinal muscular atrophy	PMID:15726252|PMID:16141003|PMID:16411092|PMID:17157502|PMID:17236769|PMID:17979987|PMID:18055493|PMID:20635405|PMID:22158424|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26467025|PMID:26886200|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:30028523|PMID:30919934|PMID:31788660|PMID:33386810|PMID:34405919|PMID:34720847|PMID:34863162|PMID:35731190|PMID:37526466|PMID:37589857|PMID:37931111|PMID:38391941|PMID:38758368
8717521	Capn3	calpain 3	gene	DOID:3275	thymoma		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8717521	Capn3	calpain 3	gene	DOID:423	myopathy		ISO	RGD:731876	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:15726252|PMID:16141003|PMID:16411092|PMID:17157502|PMID:17236769|PMID:17979987|PMID:18055493|PMID:20635405|PMID:22158424|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26467025|PMID:26886200|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:30028523|PMID:30919934|PMID:31788660|PMID:33386810|PMID:34405919|PMID:34720847|PMID:34863162|PMID:35731190|PMID:37526466|PMID:37589857|PMID:37931111|PMID:38391941|PMID:38758368
8717521	Capn3	calpain 3	gene	DOID:4362	cervical cancer		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
8717521	Capn3	calpain 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731876	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:26467025|PMID:28492532|PMID:33250842
8717521	Capn3	calpain 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731876	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:10330340|PMID:18414213|PMID:19835634|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8717521	Capn3	calpain 3	gene	DOID:5041	esophageal cancer		ISO	RGD:731876	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8717521	Capn3	calpain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8717521	Capn3	calpain 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731876	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:10330340|PMID:18414213|PMID:19835634|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8717521	Capn3	calpain 3	gene	DOID:630	genetic disease		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31268554|PMID:35157181|PMID:36703223
8717521	Capn3	calpain 3	gene	DOID:6364	migraine		ISO	RGD:731876	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Migraine Disorders	PMID:15726252|PMID:16141003|PMID:16411092|PMID:17157502|PMID:17236769|PMID:17979987|PMID:18055493|PMID:20635405|PMID:22158424|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26467025|PMID:26886200|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:30028523|PMID:30919934|PMID:31788660|PMID:33386810|PMID:34405919|PMID:34720847|PMID:34863162|PMID:35731190|PMID:37526466|PMID:37589857|PMID:37931111|PMID:38391941|PMID:38758368
8717521	Capn3	calpain 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731876	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:33250842
8717521	Capn3	calpain 3	gene	DOID:7998	hyperthyroidism		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
8717521	Capn3	calpain 3	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:731876	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Renal neoplasm	PMID:15221789|PMID:25741868|PMID:28492532
8717521	Capn3	calpain 3	gene	DOID:9003242	Paresthesia		ISO	RGD:731876	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Paresthesia	PMID:15726252|PMID:16141003|PMID:16411092|PMID:17157502|PMID:17236769|PMID:17979987|PMID:18055493|PMID:20635405|PMID:22158424|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26467025|PMID:26886200|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:30028523|PMID:30919934|PMID:31788660|PMID:33386810|PMID:34405919|PMID:34720847|PMID:34863162|PMID:35731190|PMID:37526466|PMID:37589857|PMID:37931111|PMID:38391941|PMID:38758368
8717521	Capn3	calpain 3	gene	DOID:9003566	Mesothelioma		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8717521	Capn3	calpain 3	gene	DOID:9003760	Myalgia		ISO	RGD:731876	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:15726252|PMID:16141003|PMID:16411092|PMID:17157502|PMID:17236769|PMID:17979987|PMID:18055493|PMID:20635405|PMID:22158424|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26467025|PMID:26886200|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:30028523|PMID:30919934|PMID:31788660|PMID:33386810|PMID:34405919|PMID:34720847|PMID:34863162|PMID:35731190|PMID:37526466|PMID:37589857|PMID:37931111|PMID:38391941|PMID:38758368
8717521	Capn3	calpain 3	gene	DOID:9003997	Familial Idiopathic Inflammatory Myopathy		ISO	RGD:731876	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Familial idiopathic inflammatory myopathy	PMID:25741868|PMID:28492532|PMID:32528171
8717521	Capn3	calpain 3	gene	DOID:9005532	Muscle Weakness		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
8717521	Capn3	calpain 3	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
8717521	Capn3	calpain 3	gene	DOID:9006843	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4		ISO	RGD:731876	D	RGD:7240710	20190911	OMIM			
8717521	Capn3	calpain 3	gene	DOID:9006843	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4		ISO	RGD:731876	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CAPN3-related disorder | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1I | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 4	PMID:10330340|PMID:10567047|PMID:12461690|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15726252|PMID:15733273|PMID:15884399|PMID:16141003|PMID:16199547|PMID:16372320|PMID:16411092|PMID:16627476|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17526799|PMID:17596655|PMID:17979987|PMID:17994539|PMID:18055493|PMID:18073330|PMID:18414213|PMID:18563459|PMID:18854869|PMID:19015733|PMID:19226146|PMID:19364062|PMID:19556129|PMID:19835634|PMID:20635405|PMID:21204801|PMID:21288883|PMID:21386772|PMID:21520333|PMID:22006685|PMID:22158424|PMID:22443334|PMID:22926650|PMID:23666804|PMID:23821418|PMID:24033266|PMID:24803842|PMID:24846670|PMID:25079074|PMID:25135358|PMID:25741868|PMID:25987458|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26886200|PMID:27011640|PMID:27020652|PMID:27234031|PMID:2725975|PMID:27259757|PMID:27363342|PMID:27500519|PMID:27708273|PMID:27884173|PMID:28300015|PMID:28403181|PMID:28492532|PMID:28877744|PMID:28881388|PMID:28915917|PMID:29797799|PMID:29970176|PMID:30028523|PMID:30056071|PMID:30500922|PMID:30564623|PMID:30838351|PMID:30919934|PMID:31066050|PMID:31069529|PMID:31517061|PMID:31788660|PMID:32342993|PMID:32403337|PMID:32528171|PMID:32557990|PMID:32646536|PMID:32668095|PMID:32896923|PMID:32994280|PMID:33250842|PMID:33337384|PMID:33386810|PMID:33448235|PMID:34323405|PMID:34405919|PMID:34720847|PMID:34863162|PMID:35135626|PMID:35169782|PMID:35723113|PMID:35731190|PMID:35741838|PMID:37526466|PMID:37589857|PMID:37931111|PMID:38374194|PMID:38391941|PMID:38758368|PMID:9150160|PMID:9266733|PMID:9762961|PMID:9777948
8717521	Capn3	calpain 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717521	Capn3	calpain 3	gene	DOID:9007114	Mobility Limitation		ISO	RGD:731876	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:15726252|PMID:15733273|PMID:16141003|PMID:16411092|PMID:17157502|PMID:17236769|PMID:17979987|PMID:18055493|PMID:20635405|PMID:21386772|PMID:22158424|PMID:23666804|PMID:24803842|PMID:24846670|PMID:25079074|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26467025|PMID:26886200|PMID:27011640|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:30028523|PMID:30919934|PMID:31788660|PMID:33386810|PMID:34405919|PMID:34720847|PMID:34863162|PMID:35723113|PMID:35731190|PMID:37526466|PMID:37589857|PMID:37931111|PMID:38391941|PMID:38758368
8717521	Capn3	calpain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8717521	Capn3	calpain 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
8717521	Capn3	calpain 3	gene	DOID:9834	hyperopia		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
8717521	Capn3	calpain 3	gene	DOID:9884	muscular dystrophy		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:15733273|PMID:21386772|PMID:23666804|PMID:24846670|PMID:25079074|PMID:25741868|PMID:26467025|PMID:27011640|PMID:28492532|PMID:35723113
8717521	Capn3	calpain 3	gene	DOID:9884	muscular dystrophy	susceptibility	ISO	RGD:731876	D	RGD:9068941	20200609	RGD		Muscular Dystrophies, Limb-Girdle, type 2A, OMIM:114240;DNA:mutations	PMID:9150160|REF_RGD_ID:1600769
8717521	Capn3	calpain 3	gene	DOID:9970	obesity		ISO	RGD:731876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:14981715|PMID:16141003|PMID:28492532
8717564	Sirt7	sirtuin 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717564	Sirt7	sirtuin 7	gene	DOID:10534	stomach cancer		ISO	RGD:1314170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8717564	Sirt7	sirtuin 7	gene	DOID:1324	lung cancer		ISO	RGD:1314170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8717564	Sirt7	sirtuin 7	gene	DOID:418	systemic scleroderma		ISO	RGD:1314170	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25707573
8717564	Sirt7	sirtuin 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1314170	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8717564	Sirt7	sirtuin 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717564	Sirt7	sirtuin 7	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1314170	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:28675767
8717564	Sirt7	sirtuin 7	gene	DOID:9452	steatotic liver disease		ISO	RGD:1314170	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24210820
8717592	Slc30a6	solute carrier family 30 member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717592	Slc30a6	solute carrier family 30 member 6	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1319489	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16580781
8717592	Slc30a6	solute carrier family 30 member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8717592	Slc30a6	solute carrier family 30 member 6	gene	DOID:1324	lung cancer		ISO	RGD:1319489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8717592	Slc30a6	solute carrier family 30 member 6	gene	DOID:2394	ovarian cancer		ISO	RGD:1319489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8717592	Slc30a6	solute carrier family 30 member 6	gene	DOID:3070	high grade glioma		ISO	RGD:1319489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8717592	Slc30a6	solute carrier family 30 member 6	gene	DOID:4362	cervical cancer		ISO	RGD:1319489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8717592	Slc30a6	solute carrier family 30 member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717592	Slc30a6	solute carrier family 30 member 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8717592	Slc30a6	solute carrier family 30 member 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8717592	Slc30a6	solute carrier family 30 member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8717611	Znf410	zinc finger protein 410	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8717611	Znf410	zinc finger protein 410	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717611	Znf410	zinc finger protein 410	gene	DOID:10534	stomach cancer		ISO	RGD:1313783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8717611	Znf410	zinc finger protein 410	gene	DOID:1909	melanoma		ISO	RGD:1313783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8717611	Znf410	zinc finger protein 410	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8717611	Znf410	zinc finger protein 410	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717611	Znf410	zinc finger protein 410	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8717611	Znf410	zinc finger protein 410	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717611	Znf410	zinc finger protein 410	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8717636	Syce1l	synaptonemal complex central element protein 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2902459	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717636	Syce1l	synaptonemal complex central element protein 1 like	gene	DOID:5041	esophageal cancer		ISO	RGD:2902459	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8717636	Syce1l	synaptonemal complex central element protein 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2902459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717636	Syce1l	synaptonemal complex central element protein 1 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2902459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8717636	Syce1l	synaptonemal complex central element protein 1 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2902459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8717643	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1607015	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868|PMID:28317099|PMID:31230720
8717643	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:0090124	neurogenic-type arthrogryposis multiplex congenita-2		ISO	RGD:1607015	D	RGD:7240710	20200805	OMIM			
8717643	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:0090124	neurogenic-type arthrogryposis multiplex congenita-2		ISO	RGD:1607015	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type | ClinVar Annotator: match by term: ERGIC1-related condition	PMID:25741868
8717643	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:10534	stomach cancer		ISO	RGD:1607015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8717643	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:1324	lung cancer		ISO	RGD:1607015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8717643	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:3070	high grade glioma		ISO	RGD:1607015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8717643	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:3275	thymoma		ISO	RGD:1607015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8717643	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:4362	cervical cancer		ISO	RGD:1607015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8717643	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1607015	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8717643	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717643	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8717643	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8717643	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607015	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8717665	Wbp11	WW domain binding protein 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8717665	Wbp11	WW domain binding protein 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717665	Wbp11	WW domain binding protein 11	gene	DOID:0080073	spina bifida occulta		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spina bifida occulta	PMID:25741868
8717665	Wbp11	WW domain binding protein 11	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868
8717665	Wbp11	WW domain binding protein 11	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:25741868
8717665	Wbp11	WW domain binding protein 11	gene	DOID:10485	esophageal atresia		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	PMID:25741868
8717665	Wbp11	WW domain binding protein 11	gene	DOID:10534	stomach cancer		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8717665	Wbp11	WW domain binding protein 11	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8717665	Wbp11	WW domain binding protein 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8717665	Wbp11	WW domain binding protein 11	gene	DOID:1324	lung cancer		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8717665	Wbp11	WW domain binding protein 11	gene	DOID:14766	renal agenesis		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Renal agenesis	PMID:25741868
8717665	Wbp11	WW domain binding protein 11	gene	DOID:1657	ventricular septal defect		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
8717665	Wbp11	WW domain binding protein 11	gene	DOID:420	hypertrichosis		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868
8717665	Wbp11	WW domain binding protein 11	gene	DOID:4362	cervical cancer		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8717665	Wbp11	WW domain binding protein 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8717665	Wbp11	WW domain binding protein 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717665	Wbp11	WW domain binding protein 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8717665	Wbp11	WW domain binding protein 11	gene	DOID:630	genetic disease		ISO	RGD:1317378	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8717665	Wbp11	WW domain binding protein 11	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
8717665	Wbp11	WW domain binding protein 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8717665	Wbp11	WW domain binding protein 11	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:25741868
8717665	Wbp11	WW domain binding protein 11	gene	DOID:9001031	Retrognathia		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
8717665	Wbp11	WW domain binding protein 11	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25741868
8717665	Wbp11	WW domain binding protein 11	gene	DOID:9001510	Funnel Chest		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
8717665	Wbp11	WW domain binding protein 11	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
8717665	Wbp11	WW domain binding protein 11	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868
8717665	Wbp11	WW domain binding protein 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717665	Wbp11	WW domain binding protein 11	gene	DOID:9007661	Dwarfism		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8717665	Wbp11	WW domain binding protein 11	gene	DOID:9008682	Velopharyngeal Insufficiency		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Velopharyngeal insufficiency	PMID:25741868
8717665	Wbp11	WW domain binding protein 11	gene	DOID:9008737	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS		ISO	RGD:1317378	D	RGD:7240710	20210421	OMIM			
8717665	Wbp11	WW domain binding protein 11	gene	DOID:9008737	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS		ISO	RGD:1317378	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vertebral, cardiac, tracheoesophageal, renal, and limb defects | ClinVar Annotator: match by term: WBP11 spliceosomopathy	PMID:25741868|PMID:33276377
8717665	Wbp11	WW domain binding protein 11	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868
8717665	Wbp11	WW domain binding protein 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8717665	Wbp11	WW domain binding protein 11	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
8717665	Wbp11	WW domain binding protein 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8717689	Pld4	phospholipase D family member 4	gene	DOID:10534	stomach cancer		ISO	RGD:1347934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8717689	Pld4	phospholipase D family member 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8717689	Pld4	phospholipase D family member 4	gene	DOID:1115	sarcoma		ISO	RGD:1347934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8717689	Pld4	phospholipase D family member 4	gene	DOID:1324	lung cancer		ISO	RGD:1347934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8717689	Pld4	phospholipase D family member 4	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	severity	ISO	RGD:1347934	D	RGD:9068941	20200626	RGD			PMID:28302172|REF_RGD_ID:32716376
8717689	Pld4	phospholipase D family member 4	gene	DOID:1909	melanoma		ISO	RGD:1347934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8717689	Pld4	phospholipase D family member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717689	Pld4	phospholipase D family member 4	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1347934	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22446963
8717689	Pld4	phospholipase D family member 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1347934	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8717689	Pld4	phospholipase D family member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717689	Pld4	phospholipase D family member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8717689	Pld4	phospholipase D family member 4	gene	DOID:9009395	Systemic Lupus Erythematosus 18		ISO	RGD:1347934	D	RGD:7240710	20251008	OMIM			
8717689	Pld4	phospholipase D family member 4	gene	DOID:9009395	Systemic Lupus Erythematosus 18		ISO	RGD:1347934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SYSTEMIC LUPUS ERYTHEMATOSUS 18	
8717689	Pld4	phospholipase D family member 4	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1557943	D	RGD:9068941	20220825	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
8717710	Gpr3	G protein-coupled receptor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717722	Calhm2	calcium homeostasis modulator family member 2	gene	DOID:1307	dementia		ISO	RGD:1317958	D	RGD:9068941	20250724	MouseDO			
8717722	Calhm2	calcium homeostasis modulator family member 2	gene	DOID:1596	depressive disorder		ISO	RGD:1317958	D	RGD:9068941	20250724	MouseDO			
8717722	Calhm2	calcium homeostasis modulator family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317957	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8717722	Calhm2	calcium homeostasis modulator family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717722	Calhm2	calcium homeostasis modulator family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8717729	Rnf25	ring finger protein 25	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8717729	Rnf25	ring finger protein 25	gene	DOID:10534	stomach cancer		ISO	RGD:1323079	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8717729	Rnf25	ring finger protein 25	gene	DOID:1115	sarcoma		ISO	RGD:1323079	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8717729	Rnf25	ring finger protein 25	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8717729	Rnf25	ring finger protein 25	gene	DOID:3070	high grade glioma		ISO	RGD:1323079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8717729	Rnf25	ring finger protein 25	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8717729	Rnf25	ring finger protein 25	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1323079	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
8717729	Rnf25	ring finger protein 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717729	Rnf25	ring finger protein 25	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8717729	Rnf25	ring finger protein 25	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8717729	Rnf25	ring finger protein 25	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8717729	Rnf25	ring finger protein 25	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717743	Gprc5c	G protein-coupled receptor class C group 5 member C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717743	Gprc5c	G protein-coupled receptor class C group 5 member C	gene	DOID:1909	melanoma		ISO	RGD:1322855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8717743	Gprc5c	G protein-coupled receptor class C group 5 member C	gene	DOID:3275	thymoma		ISO	RGD:1322855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8717743	Gprc5c	G protein-coupled receptor class C group 5 member C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717743	Gprc5c	G protein-coupled receptor class C group 5 member C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717769	Tomm40l	translocase of outer mitochondrial membrane 40 like	gene	DOID:1324	lung cancer		ISO	RGD:1604579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8717769	Tomm40l	translocase of outer mitochondrial membrane 40 like	gene	DOID:1909	melanoma		ISO	RGD:1604579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8717769	Tomm40l	translocase of outer mitochondrial membrane 40 like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8717769	Tomm40l	translocase of outer mitochondrial membrane 40 like	gene	DOID:4362	cervical cancer		ISO	RGD:1604579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8717769	Tomm40l	translocase of outer mitochondrial membrane 40 like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8717769	Tomm40l	translocase of outer mitochondrial membrane 40 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1604579	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8717769	Tomm40l	translocase of outer mitochondrial membrane 40 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717769	Tomm40l	translocase of outer mitochondrial membrane 40 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8717769	Tomm40l	translocase of outer mitochondrial membrane 40 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717769	Tomm40l	translocase of outer mitochondrial membrane 40 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8717792	Dipk2a	divergent protein kinase domain 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717792	Dipk2a	divergent protein kinase domain 2A	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1603352	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21283809
8717792	Dipk2a	divergent protein kinase domain 2A	gene	DOID:1115	sarcoma		ISO	RGD:1603352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8717792	Dipk2a	divergent protein kinase domain 2A	gene	DOID:12849	autistic disorder		ISO	RGD:1603352	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18621663
8717792	Dipk2a	divergent protein kinase domain 2A	gene	DOID:2394	ovarian cancer		ISO	RGD:1603352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8717792	Dipk2a	divergent protein kinase domain 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717792	Dipk2a	divergent protein kinase domain 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8717792	Dipk2a	divergent protein kinase domain 2A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603352	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8717792	Dipk2a	divergent protein kinase domain 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717799	Spc24	SPC24 component of NDC80 kinetochore complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717799	Spc24	SPC24 component of NDC80 kinetochore complex	gene	DOID:10534	stomach cancer		ISO	RGD:1604521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8717799	Spc24	SPC24 component of NDC80 kinetochore complex	gene	DOID:3275	thymoma		ISO	RGD:1604521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8717799	Spc24	SPC24 component of NDC80 kinetochore complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717825	Mix23	mitochondrial matrix import factor 23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8717825	Mix23	mitochondrial matrix import factor 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717825	Mix23	mitochondrial matrix import factor 23	gene	DOID:1115	sarcoma		ISO	RGD:1604240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8717825	Mix23	mitochondrial matrix import factor 23	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8717825	Mix23	mitochondrial matrix import factor 23	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8717825	Mix23	mitochondrial matrix import factor 23	gene	DOID:5041	esophageal cancer		ISO	RGD:1604240	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8717825	Mix23	mitochondrial matrix import factor 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717825	Mix23	mitochondrial matrix import factor 23	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8717825	Mix23	mitochondrial matrix import factor 23	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8717850	Fgl2	fibrinogen like 2	gene	DOID:0040094	autoimmune glomerulonephritis		ISO	RGD:732675	D	RGD:9068941	20220825	MouseDO			
8717850	Fgl2	fibrinogen like 2	gene	DOID:0080600	COVID-19		ISO	RGD:1347654	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8717850	Fgl2	fibrinogen like 2	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1347654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
8717850	Fgl2	fibrinogen like 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1347654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8717850	Fgl2	fibrinogen like 2	gene	DOID:9002311	Experimental Autoimmune Myocarditis	severity	ISO	RGD:620170	D	RGD:9068941	20200903	RGD			PMID:28892130|REF_RGD_ID:38549573
8717855	Npw	neuropeptide W	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717873	Nfil3	nuclear factor, interleukin 3 regulated	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:732632	D	RGD:9068941	20220825	MouseDO			
8717873	Nfil3	nuclear factor, interleukin 3 regulated	gene	DOID:0050628	advanced sleep phase syndrome		ISO	RGD:1345604	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25395965
8717873	Nfil3	nuclear factor, interleukin 3 regulated	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8717873	Nfil3	nuclear factor, interleukin 3 regulated	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:1345604	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (human)	PMID:19635508|REF_RGD_ID:5490168
8717879	Mcee	methylmalonyl-CoA epimerase	gene	DOID:0060019	coronin-1A deficiency		ISO	RGD:1320595	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 8	PMID:17823972|PMID:25073507|PMID:28492532
8717879	Mcee	methylmalonyl-CoA epimerase	gene	DOID:0060260	ptosis		ISO	RGD:1320595	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:16697227|PMID:16752391|PMID:17823972|PMID:25741868|PMID:25763508|PMID:25954003|PMID:27618451|PMID:27699154|PMID:28490743|PMID:28492532|PMID:29104221|PMID:30682498|PMID:31146325
8717879	Mcee	methylmalonyl-CoA epimerase	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1320595	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:16697227|PMID:16752391|PMID:17823972|PMID:25741868|PMID:25763508|PMID:25954003|PMID:27618451|PMID:27699154|PMID:28490743|PMID:28492532|PMID:29104221|PMID:30682498|PMID:31146325
8717879	Mcee	methylmalonyl-CoA epimerase	gene	DOID:1115	sarcoma		ISO	RGD:1320595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8717879	Mcee	methylmalonyl-CoA epimerase	gene	DOID:1324	lung cancer		ISO	RGD:1320595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8717879	Mcee	methylmalonyl-CoA epimerase	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1320595	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Isolated Methylmalonic Acidemia	PMID:16697227|PMID:16752391|PMID:17823972|PMID:25741868|PMID:25763508|PMID:25954003|PMID:27618451|PMID:27699154|PMID:28490743|PMID:28492532|PMID:29104221|PMID:30682498|PMID:31146325
8717879	Mcee	methylmalonyl-CoA epimerase	gene	DOID:2030	anxiety disorder		ISO	RGD:1320595	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:16697227|PMID:16752391|PMID:17823972|PMID:25741868|PMID:25763508|PMID:25954003|PMID:27618451|PMID:27699154|PMID:28490743|PMID:28492532|PMID:29104221|PMID:30682498|PMID:31146325
8717879	Mcee	methylmalonyl-CoA epimerase	gene	DOID:5041	esophageal cancer		ISO	RGD:1320595	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8717879	Mcee	methylmalonyl-CoA epimerase	gene	DOID:543	dystonia		ISO	RGD:1320595	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:16697227|PMID:16752391|PMID:17823972|PMID:25741868|PMID:25763508|PMID:25954003|PMID:27618451|PMID:27699154|PMID:28490743|PMID:28492532|PMID:29104221|PMID:30682498|PMID:31146325
8717879	Mcee	methylmalonyl-CoA epimerase	gene	DOID:630	genetic disease		ISO	RGD:1320595	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16697227|PMID:16752391|PMID:17823972|PMID:25741868|PMID:25763508|PMID:25954003|PMID:27618451|PMID:27699154|PMID:28490743|PMID:28492532|PMID:29104221|PMID:30682498|PMID:31146325
8717879	Mcee	methylmalonyl-CoA epimerase	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1320595	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:16697227|PMID:16752391|PMID:17823972|PMID:25741868|PMID:25763508|PMID:25954003|PMID:27618451|PMID:27699154|PMID:28490743|PMID:28492532|PMID:29104221|PMID:30682498|PMID:31146325
8717879	Mcee	methylmalonyl-CoA epimerase	gene	DOID:9000454	Methylmalonyl-CoA Epimerase Deficiency		ISO	RGD:1320595	D	RGD:7240710	20180130	OMIM			
8717879	Mcee	methylmalonyl-CoA epimerase	gene	DOID:9000454	Methylmalonyl-CoA Epimerase Deficiency		ISO	RGD:1320595	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MCEE-related condition | ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III | ClinVar Annotator: match by term: METHYLMALONYL-CoA EPIMERASE DEFICIENCY | ClinVar Annotator: match by term: Methylmalonyl-CoA epimerase deficiency	PMID:16697227|PMID:16752391|PMID:17823972|PMID:24033266|PMID:25741868|PMID:25763508|PMID:25954003|PMID:27618451|PMID:27699154|PMID:28490743|PMID:28492532|PMID:29104221|PMID:30682498|PMID:31146325
8717879	Mcee	methylmalonyl-CoA epimerase	gene	DOID:9001581	Constipation		ISO	RGD:1320595	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:16697227|PMID:16752391|PMID:17823972|PMID:25741868|PMID:25763508|PMID:25954003|PMID:27618451|PMID:27699154|PMID:28490743|PMID:28492532|PMID:29104221|PMID:30682498|PMID:31146325
8717879	Mcee	methylmalonyl-CoA epimerase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717900	Ccdc69	coiled-coil domain containing 69	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8717900	Ccdc69	coiled-coil domain containing 69	gene	DOID:1909	melanoma		ISO	RGD:1603313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8717900	Ccdc69	coiled-coil domain containing 69	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8717900	Ccdc69	coiled-coil domain containing 69	gene	DOID:4362	cervical cancer		ISO	RGD:1603313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8717900	Ccdc69	coiled-coil domain containing 69	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8717900	Ccdc69	coiled-coil domain containing 69	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717900	Ccdc69	coiled-coil domain containing 69	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8717900	Ccdc69	coiled-coil domain containing 69	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8717913	Tecr	trans-2,3-enoyl-CoA reductase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8717913	Tecr	trans-2,3-enoyl-CoA reductase	gene	DOID:0081188	autosomal recessive intellectual developmental disorder 14		ISO	RGD:733590	D	RGD:7240710	20180130	OMIM			
8717913	Tecr	trans-2,3-enoyl-CoA reductase	gene	DOID:0081188	autosomal recessive intellectual developmental disorder 14		ISO	RGD:733590	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 14 | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 14 | ClinVar Annotator: match by term: TECR-related condition	PMID:25741868
8717913	Tecr	trans-2,3-enoyl-CoA reductase	gene	DOID:1115	sarcoma		ISO	RGD:733590	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8717913	Tecr	trans-2,3-enoyl-CoA reductase	gene	DOID:1324	lung cancer		ISO	RGD:733590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8717913	Tecr	trans-2,3-enoyl-CoA reductase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8717913	Tecr	trans-2,3-enoyl-CoA reductase	gene	DOID:4362	cervical cancer		ISO	RGD:733590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8717913	Tecr	trans-2,3-enoyl-CoA reductase	gene	DOID:5041	esophageal cancer		ISO	RGD:733590	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8717913	Tecr	trans-2,3-enoyl-CoA reductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717913	Tecr	trans-2,3-enoyl-CoA reductase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717930	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717930	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:0080600	COVID-19		ISO	RGD:1349487	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8717930	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8717930	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8717930	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:1909	melanoma		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8717930	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:3275	thymoma		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8717930	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8717930	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1349487	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8717930	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8717930	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717930	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8717930	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8717930	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8717930	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717930	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8717930	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8717966	Ppif	peptidylprolyl isomerase F	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8717966	Ppif	peptidylprolyl isomerase F	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717966	Ppif	peptidylprolyl isomerase F	gene	DOID:0080600	COVID-19		ISO	RGD:1354243	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
8717966	Ppif	peptidylprolyl isomerase F	gene	DOID:1115	sarcoma		ISO	RGD:1354243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8717966	Ppif	peptidylprolyl isomerase F	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8717966	Ppif	peptidylprolyl isomerase F	gene	DOID:4362	cervical cancer		ISO	RGD:1354243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8717966	Ppif	peptidylprolyl isomerase F	gene	DOID:5295	intestinal disease		ISO	RGD:1354243	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20668000
8717966	Ppif	peptidylprolyl isomerase F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717966	Ppif	peptidylprolyl isomerase F	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8717966	Ppif	peptidylprolyl isomerase F	gene	DOID:9005175	Ulcer		ISO	RGD:1354243	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20668000
8717966	Ppif	peptidylprolyl isomerase F	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8717976	Mpv17l2	MPV17 mitochondrial inner membrane protein like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8717976	Mpv17l2	MPV17 mitochondrial inner membrane protein like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8717976	Mpv17l2	MPV17 mitochondrial inner membrane protein like 2	gene	DOID:1909	melanoma		ISO	RGD:1603190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8717976	Mpv17l2	MPV17 mitochondrial inner membrane protein like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717976	Mpv17l2	MPV17 mitochondrial inner membrane protein like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717976	Mpv17l2	MPV17 mitochondrial inner membrane protein like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8717985	Dohh	deoxyhypusine hydroxylase	gene	DOID:1059	intellectual disability		ISO	RGD:1606491	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8717985	Dohh	deoxyhypusine hydroxylase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8717985	Dohh	deoxyhypusine hydroxylase	gene	DOID:1115	sarcoma		ISO	RGD:1606491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8717985	Dohh	deoxyhypusine hydroxylase	gene	DOID:12849	autistic disorder		ISO	RGD:1606491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
8717985	Dohh	deoxyhypusine hydroxylase	gene	DOID:1324	lung cancer		ISO	RGD:1606491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8717985	Dohh	deoxyhypusine hydroxylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717985	Dohh	deoxyhypusine hydroxylase	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1304783	D	RGD:9068941	20250206	RGD		protein:increased expression:pulmonary artery,right ventricle	PMID:38261723|REF_RGD_ID:597621636
8717985	Dohh	deoxyhypusine hydroxylase	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1606491	D	RGD:9068941	20250206	RGD		protein:increased expression:pulmonary arterial smooth muscle, pulmonary artery, right ventricle:	PMID:38261723|REF_RGD_ID:597621636
8717985	Dohh	deoxyhypusine hydroxylase	gene	DOID:9004467	Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment		ISO	RGD:1606491	D	RGD:7240710	20221123	OMIM			
8717985	Dohh	deoxyhypusine hydroxylase	gene	DOID:9004467	Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment		ISO	RGD:1606491	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: DOHH related neurodevelopmental disorder | ClinVar Annotator: match by term: DOHH-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment	PMID:25741868|PMID:35858628
8717985	Dohh	deoxyhypusine hydroxylase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717997	Flnb	filamin B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8717997	Flnb	filamin B	gene	DOID:0050581	brachydactyly		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
8717997	Flnb	filamin B	gene	DOID:0050680	Boomerang dysplasia		ISO	RGD:1323621	D	RGD:7240710	20180130	OMIM			
8717997	Flnb	filamin B	gene	DOID:0050680	Boomerang dysplasia		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BOOMERANG DYSPLASIA | ClinVar Annotator: match by term: Boomerang dysplasia	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
8717997	Flnb	filamin B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8717997	Flnb	filamin B	gene	DOID:0060564	spinal disease		ISO	RGD:1323621	D	RGD:9068941	20200609	RGD		spondylocarpotarsal syndrome,OMIM:272460;DNA:frameshift:6408delC,DNA:point mutation:exons:R818X,R1607X	PMID:14991055|REF_RGD_ID:1601168
8717997	Flnb	filamin B	gene	DOID:0070297	primary microcephaly		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
8717997	Flnb	filamin B	gene	DOID:0080006	bone development disease		ISO	RGD:1323621	D	RGD:9068941	20200609	RGD		Larsen syndrome,OMIM:150250;DNA:point mutation:exon:F161C	PMID:14991055|REF_RGD_ID:1601168
8717997	Flnb	filamin B	gene	DOID:0080006	bone development disease		ISO	RGD:1323621	D	RGD:9068941	20200609	RGD		boomerang dysplasia, OMIM:112310;DNA:point mutation:exon:L171R,S235P	PMID:15994868|REF_RGD_ID:1601170
8717997	Flnb	filamin B	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FLNB-Related Disorders	PMID:14991055|PMID:16648377|PMID:16801345|PMID:17576681|PMID:20301736|PMID:21620354|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:34491919|PMID:9536098
8717997	Flnb	filamin B	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FLNB-Related Disorders	PMID:14991055|PMID:16648377|PMID:16752402|PMID:16801345|PMID:17576681|PMID:19085972|PMID:20301736|PMID:21620354|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878|PMID:34491919|PMID:9536098
8717997	Flnb	filamin B	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis	PMID:25741868
8717997	Flnb	filamin B	gene	DOID:0090116	spondylocarpotarsal synostosis syndrome		ISO	RGD:1323621	D	RGD:7240710	20180130	OMIM			
8717997	Flnb	filamin B	gene	DOID:0090116	spondylocarpotarsal synostosis syndrome		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME | ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome | ClinVar Annotator: match by term: VERTEBRAL FUSION WITH CARPAL COALITION	PMID:14991055|PMID:16752402|PMID:16801345|PMID:17576681|PMID:18322662|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26380986|PMID:26491051|PMID:28492532|PMID:29566257|PMID:30712878|PMID:31836586|PMID:33407338|PMID:38933926|PMID:9536098
8717997	Flnb	filamin B	gene	DOID:0112280	spondyloepiphyseal dysplasia		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
8717997	Flnb	filamin B	gene	DOID:10534	stomach cancer		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8717997	Flnb	filamin B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8717997	Flnb	filamin B	gene	DOID:1115	sarcoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8717997	Flnb	filamin B	gene	DOID:11836	clubfoot		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus | ClinVar Annotator: match by term: Clubfoot	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878|PMID:31836586|PMID:34491919
8717997	Flnb	filamin B	gene	DOID:1324	lung cancer		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8717997	Flnb	filamin B	gene	DOID:14764	Larsen syndrome		ISO	RGD:1323621	D	RGD:7240710	20180130	OMIM			
8717997	Flnb	filamin B	gene	DOID:14764	Larsen syndrome		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: LARSEN SYNDROME | ClinVar Annotator: match by term: Larsen syndrome	PMID:14991055|PMID:16648377|PMID:16752402|PMID:16801345|PMID:18322662|PMID:19085972|PMID:20301736|PMID:21620354|PMID:22190451|PMID:25741868|PMID:26491051|PMID:27048506|PMID:28229453|PMID:28492532|PMID:29566257|PMID:30712878|PMID:31836586|PMID:33255942|PMID:34557487
8717997	Flnb	filamin B	gene	DOID:1909	melanoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8717997	Flnb	filamin B	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
8717997	Flnb	filamin B	gene	DOID:3070	high grade glioma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8717997	Flnb	filamin B	gene	DOID:3275	thymoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8717997	Flnb	filamin B	gene	DOID:4362	cervical cancer		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8717997	Flnb	filamin B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8717997	Flnb	filamin B	gene	DOID:5041	esophageal cancer		ISO	RGD:1323621	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8717997	Flnb	filamin B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8717997	Flnb	filamin B	gene	DOID:630	genetic disease		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:14991055|PMID:16199547|PMID:16752402|PMID:16801345|PMID:17576681|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878|PMID:34491919|PMID:9536098
8717997	Flnb	filamin B	gene	DOID:65	connective tissue disease		ISO	RGD:1323621	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder	PMID:14991055|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8717997	Flnb	filamin B	gene	DOID:65	connective tissue disease		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
8717997	Flnb	filamin B	gene	DOID:674	cleft palate		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
8717997	Flnb	filamin B	gene	DOID:674	cleft palate	susceptibility	ISO	RGD:1323621	D	RGD:9068941	20200609	RGD		DNA:SNPs::	PMID:20634891|REF_RGD_ID:12791026
8717997	Flnb	filamin B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8717997	Flnb	filamin B	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
8717997	Flnb	filamin B	gene	DOID:9001031	Retrognathia		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
8717997	Flnb	filamin B	gene	DOID:9001383	Atelosteogenesis Type 1		ISO	RGD:1323621	D	RGD:7240710	20180130	OMIM			
8717997	Flnb	filamin B	gene	DOID:9001383	Atelosteogenesis Type 1		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ATELOSTEOGENESIS, TYPE I | ClinVar Annotator: match by term: Atelosteogenesis type I | ClinVar Annotator: match by term: SPONDYLOHUMEROFEMORAL HYPOPLASIA | ClinVar Annotator: match by term: Spondylohumerofemoral hypoplasia	PMID:16752402|PMID:16801345|PMID:17576681|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878|PMID:9536098
8717997	Flnb	filamin B	gene	DOID:9003133	Hypertelorism		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:16752402|PMID:22190451|PMID:25741868|PMID:28492532
8717997	Flnb	filamin B	gene	DOID:9003279	Joint Dislocations		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint dislocation	PMID:25741868
8717997	Flnb	filamin B	gene	DOID:9003816	Macrocephaly		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
8717997	Flnb	filamin B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8717997	Flnb	filamin B	gene	DOID:9004353	Larsen Syndromes		ISO	RGD:1323621	D	RGD:9068941	20200609	RGD		DNA:deletion, missense mutations:cds:	PMID:16801345|REF_RGD_ID:12791029
8717997	Flnb	filamin B	gene	DOID:9004436	Atelosteogenesis Type 3		ISO	RGD:1323621	D	RGD:7240710	20180130	OMIM			
8717997	Flnb	filamin B	gene	DOID:9004436	Atelosteogenesis Type 3		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ATELOSTEOGENESIS, TYPE III | ClinVar Annotator: match by term: Atelosteogenesis type III	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
8717997	Flnb	filamin B	gene	DOID:9004979	Knee Dislocation		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital knee dislocation | ClinVar Annotator: match by term: Knee dislocation	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878|PMID:31836586|PMID:34491919
8717997	Flnb	filamin B	gene	DOID:9005077	Joint Instability		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:16752402|PMID:22190451|PMID:25741868|PMID:28492532
8717997	Flnb	filamin B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8717997	Flnb	filamin B	gene	DOID:9005616	Micrognathism		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
8717997	Flnb	filamin B	gene	DOID:9006120	Absent Patella		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patella aplasia/hypoplasia	PMID:25741868|PMID:28492532|PMID:31836586|PMID:34491919
8717997	Flnb	filamin B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8717997	Flnb	filamin B	gene	DOID:9007661	Dwarfism		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
8717997	Flnb	filamin B	gene	DOID:9008858	Arthrogryposis, Impaired Intellectual Development, and Seizures		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis syndrome	
8717997	Flnb	filamin B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8717997	Flnb	filamin B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8718050	Awat1	acyl-CoA wax alcohol acyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8718050	Awat1	acyl-CoA wax alcohol acyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8718050	Awat1	acyl-CoA wax alcohol acyltransferase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8718050	Awat1	acyl-CoA wax alcohol acyltransferase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8718050	Awat1	acyl-CoA wax alcohol acyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8718067	Nyap1	neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8718067	Nyap1	neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1	gene	DOID:3275	thymoma		ISO	RGD:1602420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8718067	Nyap1	neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602420	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8718067	Nyap1	neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718067	Nyap1	neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8718085	Ubl5	ubiquitin like 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8718085	Ubl5	ubiquitin like 5	gene	DOID:10534	stomach cancer		ISO	RGD:1351956	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8718085	Ubl5	ubiquitin like 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8718085	Ubl5	ubiquitin like 5	gene	DOID:1324	lung cancer		ISO	RGD:1351956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8718085	Ubl5	ubiquitin like 5	gene	DOID:4362	cervical cancer		ISO	RGD:1351956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8718085	Ubl5	ubiquitin like 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1351956	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8718085	Ubl5	ubiquitin like 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718085	Ubl5	ubiquitin like 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8718094	Slc4a11	solute carrier family 4 member 11	gene	DOID:0060443	corneal endothelial dystrophy		ISO	RGD:1320941	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORNEAL ENDOTHELIAL DYSTROPHY	PMID:16767101|PMID:16825429|PMID:17220209|PMID:17397048|PMID:17679935|PMID:18474783|PMID:22072594|PMID:25741868|PMID:28492532
8718094	Slc4a11	solute carrier family 4 member 11	gene	DOID:0060649	congenital hereditary endothelial dystrophy of cornea		ISO	RGD:1320941	D	RGD:7240710	20180130	OMIM			
8718094	Slc4a11	solute carrier family 4 member 11	gene	DOID:0060649	congenital hereditary endothelial dystrophy of cornea		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hereditary endothelial dystrophy of cornea	PMID:16767101|PMID:16825429|PMID:17679935|PMID:18474783|PMID:25741868|PMID:25811729|PMID:28492532|PMID:29327391
8718094	Slc4a11	solute carrier family 4 member 11	gene	DOID:0110855	posterior polymorphous corneal dystrophy 1		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1	PMID:25182519|PMID:28492532
8718094	Slc4a11	solute carrier family 4 member 11	gene	DOID:0111620	corneal dystrophy-perceptive deafness syndrome		ISO	RGD:1320941	D	RGD:7240710	20180130	OMIM			
8718094	Slc4a11	solute carrier family 4 member 11	gene	DOID:0111620	corneal dystrophy-perceptive deafness syndrome		ISO	RGD:1320941	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS | ClinVar Annotator: match by term: Corneal dystrophy and sensorineural deafness | ClinVar Annotator: match by term: Corneal dystrophy-perceptive deafness syndrome | ClinVar Annotator: match by term: Harboyan syndrome | ClinVar Annotator: match by term: corneal dystrophy-perceptive deafness syndrome	PMID:16199547|PMID:16767101|PMID:16825429|PMID:17220209|PMID:17397048|PMID:17576681|PMID:17679935|PMID:18024964|PMID:18474783|PMID:19337156|PMID:19369245|PMID:20848555|PMID:21203343|PMID:22072594|PMID:23615275|PMID:23922488|PMID:24033266|PMID:24348007|PMID:24916015|PMID:25007886|PMID:25182519|PMID:25500497|PMID:25741868|PMID:25741869|PMID:25811729|PMID:26467025|PMID:26619383|PMID:28263186|PMID:28492532|PMID:29327391|PMID:30140924|PMID:30557570|PMID:30856043|PMID:31323090|PMID:31420327|PMID:31555324|PMID:31691803|PMID:31714402|PMID:32520610|PMID:33541055|PMID:34637099|PMID:35291925|PMID:35672901|PMID:35985662|PMID:36037197|PMID:36902444|PMID:38252645|PMID:38450295|PMID:38990107|PMID:9536098
8718094	Slc4a11	solute carrier family 4 member 11	gene	DOID:1115	sarcoma		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8718094	Slc4a11	solute carrier family 4 member 11	gene	DOID:1324	lung cancer		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8718094	Slc4a11	solute carrier family 4 member 11	gene	DOID:2566	corneal dystrophy		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corneal dystrophy	PMID:18024964|PMID:20848555|PMID:23585771|PMID:23922488|PMID:24348007|PMID:25182519|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28973083|PMID:29327391|PMID:31263352|PMID:31691803|PMID:33816482|PMID:34130750|PMID:36115991
8718094	Slc4a11	solute carrier family 4 member 11	gene	DOID:3275	thymoma		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8718094	Slc4a11	solute carrier family 4 member 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718094	Slc4a11	solute carrier family 4 member 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8718094	Slc4a11	solute carrier family 4 member 11	gene	DOID:630	genetic disease		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8718094	Slc4a11	solute carrier family 4 member 11	gene	DOID:9004127	Corneal Dystrophy, Fuchs Endothelial, 4		ISO	RGD:1320941	D	RGD:7240710	20180130	OMIM			
8718094	Slc4a11	solute carrier family 4 member 11	gene	DOID:9004127	Corneal Dystrophy, Fuchs Endothelial, 4		ISO	RGD:1320941	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 | ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 4	PMID:18024964|PMID:22072594|PMID:25007886|PMID:25741868|PMID:28492532|PMID:29327391
8718094	Slc4a11	solute carrier family 4 member 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8718094	Slc4a11	solute carrier family 4 member 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8718094	Slc4a11	solute carrier family 4 member 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:0080745	polymyositis		ISO	RGD:735910	D	RGD:9068941	20200609	RGD		protein:expression:serum	PMID:22394569|REF_RGD_ID:9491763
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:620458	D	RGD:9068941	20200609	RGD			PMID:19368990|REF_RGD_ID:4891964
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:10223	dermatomyositis		ISO	RGD:735910	D	RGD:9068941	20200609	RGD		protein:expression:serum	PMID:22394569|REF_RGD_ID:9491763
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:10457	Legionnaires' disease		ISO	RGD:731691	D	RGD:9068941	20200609	RGD			PMID:16113250|REF_RGD_ID:4891897
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:10459	common cold		ISO	RGD:735910	D	RGD:9068941	20200609	RGD			PMID:20696083|REF_RGD_ID:4140458
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:10762	portal hypertension		ISO	RGD:620458	D	RGD:9068941	20200609	RGD			PMID:21347560|REF_RGD_ID:9491791
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:1205	allergic disease		ISO	RGD:735910	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:13141	uveitis		ISO	RGD:620458	D	RGD:9068941	20200609	RGD		associated with Endotoxemia;mRNA, protein:increased expression:retina	PMID:19648777|REF_RGD_ID:4891945
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:1679	cystitis		ISO	RGD:620458	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder urothelium	PMID:16651033|REF_RGD_ID:4891972
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:1824	status epilepticus	treatment	ISO	RGD:620458	D	RGD:9068941	20200609	RGD			PMID:21481949|REF_RGD_ID:9491789
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:2527	nephrosis		ISO	RGD:620458	D	RGD:9068941	20200609	RGD			PMID:19590241|REF_RGD_ID:4891946
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:2841	asthma		ISO	RGD:735910	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:14657873|REF_RGD_ID:4891906
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:2913	acute pancreatitis	treatment	ISO	RGD:620458	D	RGD:9068941	20200609	RGD			PMID:22213034|REF_RGD_ID:9491790
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:2921	glomerulonephritis		ISO	RGD:620458	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:glomerulus, urine	PMID:14605272|REF_RGD_ID:4891995
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:326	ischemia		ISO	RGD:620458	D	RGD:9068941	20200609	RGD			PMID:18006432|REF_RGD_ID:4892022
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:3310	atopic dermatitis		ISO	RGD:735910	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15131578|REF_RGD_ID:9491761
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:418	systemic scleroderma		ISO	RGD:735910	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15608300|REF_RGD_ID:4891898
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:4483	rhinitis		ISO	RGD:735910	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:14657873|REF_RGD_ID:4891906
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:620458	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:glomerulus	PMID:19590241|REF_RGD_ID:4891946
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:5154	borna disease		ISO	RGD:620458	D	RGD:9068941	20200609	RGD			PMID:12053272|REF_RGD_ID:4891998
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:551	toxic pneumonitis	treatment	ISO	RGD:2905|RGD:2906	D	RGD:9068941	20260718	RGD			PMID:31295064|REF_RGD_ID:736797807
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:551	toxic pneumonitis	treatment	ISO	RGD:620876|RGD:620596	D	RGD:9068941	20260718	RGD			PMID:31295064|REF_RGD_ID:736797807
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:552	pneumonia		ISO	RGD:735910	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:620458	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:18630689|REF_RGD_ID:4891889
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:735910	D	RGD:9068941	20200609	RGD		associated with Heart Defects, Congenital	PMID:20869263|REF_RGD_ID:4891883
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:735910	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:19948918|REF_RGD_ID:4891887
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:649	prion disease		ISO	RGD:620458	D	RGD:9068941	20200609	RGD		protein:increased expression:astrocyte	PMID:11870871|REF_RGD_ID:4892001
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:735910	D	RGD:9068941	20200609	RGD			PMID:11465708|REF_RGD_ID:4892002
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:820	myocarditis		ISO	RGD:620458	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cardiac muscle cell	PMID:16018993|REF_RGD_ID:4891990
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:850	lung disease		ISO	RGD:620458	D	RGD:9068941	20200609	RGD		Acute Lung Injury associated with Endotoxemia;mRNA:increased expression:lung	PMID:17302066|REF_RGD_ID:4891892
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:8515	Cor pulmonale		ISO	RGD:735910	D	RGD:9068941	20200609	RGD			PMID:20669672|REF_RGD_ID:4143386
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:8544	chronic fatigue syndrome		ISO	RGD:735910	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma:	PMID:26615570|REF_RGD_ID:11538286
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:900	hepatopulmonary syndrome		ISO	RGD:620458	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, plasma	PMID:22659346|REF_RGD_ID:9491778
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9000598	Cranial Nerve Injuries		ISO	RGD:620458	D	RGD:9068941	20200609	RGD			PMID:15153618|REF_RGD_ID:4891994
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:620458	D	RGD:9068941	20200609	RGD			PMID:19249394|REF_RGD_ID:2304251
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:620458	D	RGD:9068941	20200609	RGD		associated with  Arthritis, Experimental	PMID:22647647|REF_RGD_ID:9491779
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735910	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:620458	D	RGD:9068941	20200609	RGD			PMID:11465708|REF_RGD_ID:4892002
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9002699	Periapical Diseases		ISO	RGD:620458	D	RGD:9068941	20200609	RGD			PMID:23829599|REF_RGD_ID:9491793
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:620458	D	RGD:9068941	20200609	RGD			PMID:16053521|REF_RGD_ID:4891973
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620458	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain	PMID:19563789|REF_RGD_ID:4891956
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:731691	D	RGD:9068941	20200609	RGD		mRNA, protein:altered expression:cochlea	PMID:24781382|REF_RGD_ID:9491762
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9005070	Microscopic Polyangiitis	severity	ISO	RGD:735910	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19327232|REF_RGD_ID:9491765
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620458	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:15153757|REF_RGD_ID:4891992
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:735910	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20388520
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9005647	Experimental Autoimmune Uveitis		ISO	RGD:620458	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:iris, ciliary body, aqueous humor	PMID:16030495|REF_RGD_ID:9479740
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9005665	Chronic Mesangial Proliferative Glomerulonephritis		ISO	RGD:620458	D	RGD:9068941	20200609	RGD			PMID:12028445|REF_RGD_ID:9491783
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:620458	D	RGD:9068941	20200609	RGD		protein:increased expression:atrium endocardium	PMID:19282612|REF_RGD_ID:4891965
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9006086	Intervertebral Disc Displacement		ISO	RGD:620458	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:spinal cord	PMID:21224760|REF_RGD_ID:4891907
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:620458	D	RGD:9068941	20200609	RGD			PMID:18448252|REF_RGD_ID:4891968
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:735910	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9007244	Paramyxoviridae Infections		ISO	RGD:731691	D	RGD:9068941	20200609	RGD			PMID:20053825|REF_RGD_ID:4891886
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9477	pulmonary embolism	treatment	ISO	RGD:620458	D	RGD:9068941	20200609	RGD			PMID:23578461|REF_RGD_ID:9491777
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9675	pulmonary emphysema		ISO	RGD:731691	D	RGD:9068941	20200609	RGD			PMID:18772344|REF_RGD_ID:4891888
8718124	Cx3cl1	C-X3-C motif chemokine ligand 1	gene	DOID:9810	polyarteritis nodosa		ISO	RGD:735910	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:23470165|REF_RGD_ID:9068463
8718147	Ak3	adenylate kinase 3	gene	DOID:1040	chronic lymphocytic leukemia		ISO	RGD:737588	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood mononuclear cell	PMID:27078856|REF_RGD_ID:13842476
8718147	Ak3	adenylate kinase 3	gene	DOID:1115	sarcoma		ISO	RGD:737588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8718147	Ak3	adenylate kinase 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:737588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8718147	Ak3	adenylate kinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:737588	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8718147	Ak3	adenylate kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718147	Ak3	adenylate kinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737588	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:17203974|REF_RGD_ID:13842477
8718147	Ak3	adenylate kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8718174	Xkr9	XK related 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8718174	Xkr9	XK related 9	gene	DOID:10534	stomach cancer		ISO	RGD:1604439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8718174	Xkr9	XK related 9	gene	DOID:1909	melanoma		ISO	RGD:1604439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8718174	Xkr9	XK related 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1604439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8718174	Xkr9	XK related 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718174	Xkr9	XK related 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8718196	Nck2	NCK adaptor protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8718196	Nck2	NCK adaptor protein 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1314306	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:33589840
8718196	Nck2	NCK adaptor protein 2	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1314306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19443634
8718196	Nck2	NCK adaptor protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8718196	Nck2	NCK adaptor protein 2	gene	DOID:576	proteinuria		ISO	RGD:1314306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19443634
8718196	Nck2	NCK adaptor protein 2	gene	DOID:9001542	Albuminuria		ISO	RGD:1314306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19443634
8718196	Nck2	NCK adaptor protein 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:10283	prostate cancer		ISO	RGD:737499	D	RGD:9068941	20200609	RGD			PMID:16533428|PMID:18288643|REF_RGD_ID:2326167|REF_RGD_ID:2326168
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:10534	stomach cancer		ISO	RGD:737499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:10611	protein-losing enteropathy		ISO	RGD:737499	D	RGD:7240710	20190315	OMIM			
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:10611	protein-losing enteropathy		ISO	RGD:737499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CD55-related condition | ClinVar Annotator: match by term: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY | ClinVar Annotator: match by term: Protein-Losing Enteropathies	PMID:16199547|PMID:25741868|PMID:28492532|PMID:28657829|PMID:28657861|PMID:35134932|PMID:35748970
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:737499	D	RGD:9068941	20200609	RGD			PMID:15102687|PMID:18676748|REF_RGD_ID:2326166|REF_RGD_ID:2326170
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:2870	endometrial adenocarcinoma		ISO	RGD:737499	D	RGD:9068941	20200609	RGD			PMID:11506079|REF_RGD_ID:2326173
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:289	endometriosis		ISO	RGD:737499	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:3459	breast carcinoma		ISO	RGD:737499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:737499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:4362	cervical cancer		ISO	RGD:737499	D	RGD:9068941	20260611	RGD			PMID:9358772|REF_RGD_ID:2293549
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:5041	esophageal cancer		ISO	RGD:737499	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:576	proteinuria		ISO	RGD:620651	D	RGD:9068941	20200609	RGD			PMID:12427125|REF_RGD_ID:2326179
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:630	genetic disease		ISO	RGD:737499	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:670	amphetamine abuse		ISO	RGD:737499	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:769	neuroblastoma		ISO	RGD:620651	D	RGD:9068941	20200609	RGD			PMID:10850450|REF_RGD_ID:2326181
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:9000469	Viral Myocarditis	treatment	ISO	RGD:737499	D	RGD:9068941	20200609	RGD			PMID:12533688|REF_RGD_ID:13702890
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620651	D	RGD:9068941	20200609	RGD			PMID:20403613|REF_RGD_ID:2326175
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8718208	Cd55	CD55 molecule (Cromer blood group)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8718235	Pa2g4	proliferation-associated 2G4	gene	DOID:10534	stomach cancer		ISO	RGD:1354307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8718235	Pa2g4	proliferation-associated 2G4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8718235	Pa2g4	proliferation-associated 2G4	gene	DOID:4362	cervical cancer		ISO	RGD:1354307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8718235	Pa2g4	proliferation-associated 2G4	gene	DOID:5041	esophageal cancer		ISO	RGD:1354307	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8718235	Pa2g4	proliferation-associated 2G4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718235	Pa2g4	proliferation-associated 2G4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8718235	Pa2g4	proliferation-associated 2G4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8718235	Pa2g4	proliferation-associated 2G4	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1354307	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8718235	Pa2g4	proliferation-associated 2G4	gene	DOID:9000918	Disease Progression		ISO	RGD:1354307	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8718235	Pa2g4	proliferation-associated 2G4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1348513	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25678704|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28589176|PMID:29130122|PMID:31780880|PMID:35217970
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:0070309	absence epilepsy		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Absence seizures	PMID:25741868
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:0080215	developmental and epileptic encephalopathy 8		ISO	RGD:1348513	D	RGD:7240710	20180130	OMIM			
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:0080215	developmental and epileptic encephalopathy 8		ISO	RGD:1348513	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ARHGEF9-related condition | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 | ClinVar Annotator: match by term: HYPEREKPLEXIA AND EPILEPSY	PMID:16199547|PMID:17576681|PMID:17893116|PMID:18414213|PMID:18615734|PMID:21633362|PMID:21731583|PMID:23033978|PMID:25678704|PMID:25741868|PMID:25898924|PMID:26467025|PMID:26834553|PMID:27238888|PMID:28492532|PMID:28589176|PMID:28708303|PMID:30914922|PMID:31054490|PMID:31069529|PMID:31440721|PMID:32593896|PMID:32939676|PMID:33504798|PMID:33860439|PMID:35638461|PMID:37541188|PMID:9536098
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1348513	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome	PMID:28492532|PMID:35638461
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:28492532
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:1059	intellectual disability		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868|PMID:28492532|PMID:28589176|PMID:32939676|PMID:35638461
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:10907	microcephaly		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:28492532
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:11162	respiratory failure		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532|PMID:35638461
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:11830	myopia		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532|PMID:35638461
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:12849	autistic disorder		ISO	RGD:1348513	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome	PMID:21681106|PMID:25741868|PMID:28492532|PMID:30208311
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:12849	autistic disorder		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868|PMID:28492532|PMID:28589176|PMID:32939676|PMID:35638461
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:1826	epilepsy		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:28589176|PMID:32939676
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:1827	generalized epilepsy		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868|PMID:28492532|PMID:35638461
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:2030	anxiety disorder		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532|PMID:35638461
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:2786	cerebellar disease		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cerebellar syndrome	
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:480	movement disease		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:630	genetic disease		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16616186|PMID:21731583|PMID:22612257|PMID:25568878|PMID:25678704|PMID:25741868|PMID:26834553|PMID:28492532|PMID:28589176|PMID:28620718|PMID:29130122|PMID:30914922|PMID:31440721|PMID:32593896|PMID:32939676|PMID:35638461
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532|PMID:35638461
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:9005077	Joint Instability		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:28492532|PMID:31440721|PMID:32939676
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1348513	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21807943
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:9007661	Dwarfism		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532|PMID:31440721|PMID:32939676
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:9008023	Memory Disorders		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17893116|PMID:18615734|PMID:23033978|PMID:25678704|PMID:25741868|PMID:26834553|PMID:28492532|PMID:28589176|PMID:28708303|PMID:31440721|PMID:32939676
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:9220	central sleep apnea		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central sleep apnea	PMID:28492532
8718252	Arhgef9	Cdc42 guanine nucleotide exchange factor 9	gene	DOID:936	brain disease		ISO	RGD:1348513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:28492532|PMID:28589176|PMID:32939676
8718278	Galc	galactosylceramidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8718278	Galc	galactosylceramidase	gene	DOID:0050952	spastic ataxia		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
8718278	Galc	galactosylceramidase	gene	DOID:10376	amblyopia		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868
8718278	Galc	galactosylceramidase	gene	DOID:10534	stomach cancer		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8718278	Galc	galactosylceramidase	gene	DOID:10579	leukodystrophy		ISO	RGD:1347926	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868|PMID:27638593|PMID:28492532|PMID:30089515
8718278	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:7240710	20180130	OMIM			
8718278	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30777126|PMID:31053700|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
8718278	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
8718278	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32295525|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:34445196|PMID:35419325|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
8718278	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32295525|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:34445196|PMID:35013804|PMID:35419325|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
8718278	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35419325|PMID:35654103|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
8718278	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28337550|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35286032|PMID:35419325|PMID:35654103|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
8718278	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25741915|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28337550|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:33190188|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35286032|PMID:35419325|PMID:35654103|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
8718278	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28337550|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29691679|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31589614|PMID:31885218|PMID:31980526|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:33190188|PMID:33547378|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34071213|PMID:34426522|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35212100|PMID:35286032|PMID:35419325|PMID:35654103|PMID:36113749|PMID:36380532|PMID:37597066|PMID:39825153|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
8718278	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28337550|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29691679|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31589614|PMID:31885218|PMID:31980526|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:33190188|PMID:33547378|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34071213|PMID:34426522|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35212100|PMID:35286032|PMID:35419325|PMID:35654103|PMID:36113749|PMID:37597066|PMID:38693247|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
8718278	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28337550|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29691679|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31589614|PMID:31885218|PMID:31980526|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:33190188|PMID:33547378|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34071213|PMID:34426522|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35212100|PMID:35286032|PMID:35419325|PMID:35654103|PMID:36113749|PMID:36380532|PMID:37597066|PMID:38693247|PMID:39825153|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
8718278	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: KRABBE DISEASE | ClinVar Annotator: match by term: Krabbe disease	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:14572137|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23620143|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24793135|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108143|PMID:26108647|PMID:26223439|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26840509|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638587|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28109651|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29691679|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30209698|PMID:30323943|PMID:30384423|PMID:30729410|PMID:30777126|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31589614|PMID:31885218|PMID:31980526|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32186243|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32709422|PMID:32763824|PMID:32912261|PMID:32973651|PMID:33150395|PMID:33176815|PMID:33178108|PMID:33190188|PMID:33191329|PMID:33547378|PMID:3362311|PMID:33832819|PMID:33948933|PMID:33989519|PMID:34012265|PMID:34055681|PMID:34065072|PMID:34071213|PMID:34445196|PMID:34449528|PMID:34869463|PMID:35002157|PMID:35012964|PMID:35013804|PMID:35212100|PMID:35286032|PMID:35419325|PMID:35586607|PMID:35614200|PMID:35654103|PMID:36057781|PMID:36113749|PMID:36200664|PMID:36380532|PMID:37434390|PMID:37597066|PMID:38515343|PMID:38693247|PMID:38730490|PMID:39184309|PMID:39499628|PMID:40355959|PMID:40449593|PMID:41276028|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
8718278	Galc	galactosylceramidase	gene	DOID:1059	intellectual disability		ISO	RGD:1347926	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8718278	Galc	galactosylceramidase	gene	DOID:10907	microcephaly		ISO	RGD:1347926	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:27638593|PMID:28492532|PMID:30089515
8718278	Galc	galactosylceramidase	gene	DOID:10965	spastic diplegia		ISO	RGD:1347926	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:25741868|PMID:27638593|PMID:28492532|PMID:30089515
8718278	Galc	galactosylceramidase	gene	DOID:1115	sarcoma		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8718278	Galc	galactosylceramidase	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:1347926	D	RGD:9068941	20200911	RGD		mRNA:decreased expression:frontal cortex (human)	PMID:30009661|REF_RGD_ID:38599170
8718278	Galc	galactosylceramidase	gene	DOID:1324	lung cancer		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8718278	Galc	galactosylceramidase	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:1347926	D	RGD:9068941	20200911	RGD		associated with Guillain-Barre syndrome; protein:increased expression:Cerebrospinal fluid, serum (human)	PMID:29301655|REF_RGD_ID:38599172
8718278	Galc	galactosylceramidase	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:1347926	D	RGD:9068941	20200911	RGD		associated with Guillain-Barre syndrome; protein:increased expression:serum (human)	PMID:12225900|PMID:27490360|REF_RGD_ID:38599168|REF_RGD_ID:38599169
8718278	Galc	galactosylceramidase	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:1347926	D	RGD:9068941	20200911	RGD		protein:increased expression:serum (human)	PMID:30396892|REF_RGD_ID:38599171
8718278	Galc	galactosylceramidase	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:1552188	D	RGD:9068941	20200911	RGD		protein:increased expression:serum (mouse)	PMID:30396892|REF_RGD_ID:38599171
8718278	Galc	galactosylceramidase	gene	DOID:1826	epilepsy		ISO	RGD:1347926	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Epilepsy syndrome	
8718278	Galc	galactosylceramidase	gene	DOID:1909	melanoma		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8718278	Galc	galactosylceramidase	gene	DOID:4362	cervical cancer		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8718278	Galc	galactosylceramidase	gene	DOID:480	movement disease		ISO	RGD:1347926	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: movement disorder	
8718278	Galc	galactosylceramidase	gene	DOID:5041	esophageal cancer		ISO	RGD:1347926	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8718278	Galc	galactosylceramidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718278	Galc	galactosylceramidase	gene	DOID:630	genetic disease		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8718278	Galc	galactosylceramidase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8718278	Galc	galactosylceramidase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1347926	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8718278	Galc	galactosylceramidase	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1347926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:24078576|PMID:25265039|PMID:25741868|PMID:28492532|PMID:28598007|PMID:31185936
8718278	Galc	galactosylceramidase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347926	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:23462331|PMID:25741868|PMID:28492532|PMID:31885218
8718278	Galc	galactosylceramidase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1347926	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:16607461|PMID:24252386|PMID:25741868|PMID:26795590|PMID:26865610|PMID:27126738|PMID:27638593|PMID:27679535|PMID:27780934|PMID:28492532|PMID:28598007|PMID:29951496|PMID:30089515|PMID:32064984|PMID:32677356|PMID:33178108|PMID:35654103|PMID:9272171|PMID:9371928
8718278	Galc	galactosylceramidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8718278	Galc	galactosylceramidase	gene	DOID:9007956	Febrile Seizures		ISO	RGD:1347926	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Complex febrile seizure	PMID:23462331|PMID:25741868|PMID:28492532|PMID:31885218
8718303	Lratd2	LRAT domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1606136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8718309	Hoxb2	homeobox B2	gene	DOID:4362	cervical cancer		ISO	RGD:1320419	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8718309	Hoxb2	homeobox B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718319	St3gal3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:1603708	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:16199547|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23252400|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066|PMID:9536098
8718319	St3gal3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8718319	St3gal3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:0080414	developmental and epileptic encephalopathy 15		ISO	RGD:1603708	D	RGD:7240710	20180130	OMIM			
8718319	St3gal3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:0080414	developmental and epileptic encephalopathy 15		ISO	RGD:1603708	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 15 | ClinVar Annotator: match by term: ST3GAL3-related condition	PMID:16199547|PMID:18414213|PMID:25741868|PMID:28492532|PMID:31584066
8718319	St3gal3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1603708	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1	PMID:25741868
8718319	St3gal3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:0081180	autosomal recessive intellectual developmental disorder 12		ISO	RGD:1603708	D	RGD:7240710	20180130	OMIM			
8718319	St3gal3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:0081180	autosomal recessive intellectual developmental disorder 12		ISO	RGD:1603708	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 12	PMID:25741868|PMID:28492532|PMID:31584066
8718319	St3gal3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1603708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:28492532|PMID:31584066|PMID:9536098
8718319	St3gal3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:1059	intellectual disability		ISO	RGD:1603708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8718319	St3gal3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:1115	sarcoma		ISO	RGD:1603708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8718319	St3gal3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:1909	melanoma		ISO	RGD:1603708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8718319	St3gal3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:3070	high grade glioma		ISO	RGD:1603708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8718319	St3gal3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8718319	St3gal3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718319	St3gal3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:630	genetic disease		ISO	RGD:1603708	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066
8718319	St3gal3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8718319	St3gal3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8718368	Tinag	tubulointerstitial nephritis antigen	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8718368	Tinag	tubulointerstitial nephritis antigen	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8718368	Tinag	tubulointerstitial nephritis antigen	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8718368	Tinag	tubulointerstitial nephritis antigen	gene	DOID:5041	esophageal cancer		ISO	RGD:1346434	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8718368	Tinag	tubulointerstitial nephritis antigen	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1346434	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19634143
8718368	Tinag	tubulointerstitial nephritis antigen	gene	DOID:9256	colorectal cancer		ISO	RGD:1346434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8718383	Nrip1	nuclear receptor interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8718383	Nrip1	nuclear receptor interacting protein 1	gene	DOID:0051078	congenital anomalies of the kidney and urinary tract 3		ISO	RGD:1323522	D	RGD:7240710	20190315	OMIM			
8718383	Nrip1	nuclear receptor interacting protein 1	gene	DOID:0051078	congenital anomalies of the kidney and urinary tract 3		ISO	RGD:1323522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 3 | ClinVar Annotator: match by term: NRIP1-related condition	PMID:25741868|PMID:28381549|PMID:28492532
8718383	Nrip1	nuclear receptor interacting protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1323522	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8718383	Nrip1	nuclear receptor interacting protein 1	gene	DOID:11476	osteoporosis		ISO	RGD:1323522	D	RGD:9068941	20200609	RGD		DNA:silent mutation, haplotype:p.G75G (human)	PMID:16530497|REF_RGD_ID:10045825
8718383	Nrip1	nuclear receptor interacting protein 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1323522	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8718383	Nrip1	nuclear receptor interacting protein 1	gene	DOID:5419	schizophrenia		ISO	RGD:1323522	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743468
8718383	Nrip1	nuclear receptor interacting protein 1	gene	DOID:5844	myocardial infarction		ISO	RGD:1323522	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22503866
8718383	Nrip1	nuclear receptor interacting protein 1	gene	DOID:6000	congestive heart failure		ISO	RGD:1323522	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22503866
8718383	Nrip1	nuclear receptor interacting protein 1	gene	DOID:630	genetic disease		ISO	RGD:1323522	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8718383	Nrip1	nuclear receptor interacting protein 1	gene	DOID:9004914	Postmenopausal Osteoporosis	susceptibility	ISO	RGD:1323522	D	RGD:9068941	20200609	RGD		DNA:silent mutation:cds:p.G75G (human)	PMID:22335445|REF_RGD_ID:10045849
8718383	Nrip1	nuclear receptor interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8718383	Nrip1	nuclear receptor interacting protein 1	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1323522	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27348297
8718383	Nrip1	nuclear receptor interacting protein 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1323522	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22267197
8718414	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8718414	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8718414	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8718414	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:155938187|RGD:155952350|RGD:156222923|RGD:329351704|RGD:401930060|RGD:401930063|RGD:404978054|RGD:404978057|RGD:404978058|RGD:404978061|RGD:404978063|RGD:404978064|RGD:404978067|RGD:404978069|RGD:404978072|RGD:404978074|RGD:404978076|RGD:404978079|RGD:404978081|RGD:405023918	D	RGD:9068941	20260521	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:25741868
8718414	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1605622	D	RGD:9068941	20260521	RGD		DNA:deletions,missense mutations:CDS:	PMID:32855533|REF_RGD_ID:598115434
8718414	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:2841	asthma	treatment	ISO	RGD:1605622	D	RGD:9068941	20251009	RGD		DNA:SNP: :rs34631960	PMID:32119686|REF_RGD_ID:628374358
8718414	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:303	substance-related disorder		ISO	RGD:1605622	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8718414	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8718414	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1605622	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8718414	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718414	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8718414	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:9008628	Familial Thoracic Aortic Aneurysm 12		ISO	RGD:1605622	D	RGD:7240710	20220413	OMIM			
8718414	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:9008628	Familial Thoracic Aortic Aneurysm 12		ISO	RGD:1605622	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 12 | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 12 | ClinVar Annotator: match by term: THSD4-related condition	PMID:25741868|PMID:32855533
8718414	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8718414	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8718430	Entpd1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:0110815	hereditary spastic paraplegia 64		ISO	RGD:733329	D	RGD:7240710	20180130	OMIM			
8718430	Entpd1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:1059	intellectual disability		ISO	RGD:733329	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
8718430	Entpd1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:733329	D	RGD:9068941	20200609	RGD		protein:decreased expression:abdominal fascia:	PMID:17469012|REF_RGD_ID:9685457
8718430	Entpd1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:1459	hypothyroidism		ISO	RGD:69265	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression,increased activity:hippocampus:	PMID:15811553|REF_RGD_ID:9685476
8718430	Entpd1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:1852	intrahepatic cholestasis		ISO	RGD:69265	D	RGD:9068941	20200609	RGD		protein:decreased activity,altered location:liver:	PMID:11383876|REF_RGD_ID:9685454
8718430	Entpd1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:69265	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain:	PMID:9634555|REF_RGD_ID:9685492
8718430	Entpd1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:3213	demyelinating disease		ISO	RGD:69265	D	RGD:9068941	20200609	RGD			PMID:17239402|REF_RGD_ID:9685485
8718430	Entpd1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:9001036	Penetrating Head Injuries		ISO	RGD:69265	D	RGD:9068941	20200609	RGD		protein:increased expression,increased activity:cerebral cortex:	PMID:16672190|REF_RGD_ID:9685448
8718430	Entpd1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:9002514	Neointima	treatment	ISO	RGD:733329	D	RGD:9068941	20200609	RGD			PMID:18485080|REF_RGD_ID:9685444
8718430	Entpd1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	disease_progression	ISO	RGD:69265	D	RGD:9068941	20200609	RGD			PMID:19524108|REF_RGD_ID:9685491
8718430	Entpd1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:9004283	Transplant Rejection		ISO	RGD:733330	D	RGD:9068941	20200609	RGD			PMID:10656876|REF_RGD_ID:9685445
8718430	Entpd1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:9004484	Sepsis		ISO	RGD:69265	D	RGD:9068941	20200609	RGD		protein:increased activity:lymphocyte:	PMID:22645477|REF_RGD_ID:9685487
8718430	Entpd1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69265	D	RGD:9068941	20200609	RGD		protein,mRNA:increased expression:glial cell, retina:	PMID:18687327|REF_RGD_ID:9685473
8718430	Entpd1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69265	D	RGD:9068941	20200609	RGD		protein:enzyme activity:platelet	PMID:17119848|REF_RGD_ID:9685486
8718430	Entpd1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:9005725	Iron Overload		ISO	RGD:69265	D	RGD:9068941	20200609	RGD		protein:enzyme activity:platelet	PMID:17119848|REF_RGD_ID:9685486
8718430	Entpd1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:9008217	Hemorrhage		ISO	RGD:733330	D	RGD:9068941	20200609	RGD			PMID:10470077|REF_RGD_ID:735004
8718456	Usp47	ubiquitin specific peptidase 47	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8718456	Usp47	ubiquitin specific peptidase 47	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8718456	Usp47	ubiquitin specific peptidase 47	gene	DOID:10534	stomach cancer		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8718456	Usp47	ubiquitin specific peptidase 47	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8718456	Usp47	ubiquitin specific peptidase 47	gene	DOID:1115	sarcoma		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8718456	Usp47	ubiquitin specific peptidase 47	gene	DOID:1324	lung cancer		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8718456	Usp47	ubiquitin specific peptidase 47	gene	DOID:1909	melanoma		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8718456	Usp47	ubiquitin specific peptidase 47	gene	DOID:4362	cervical cancer		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8718456	Usp47	ubiquitin specific peptidase 47	gene	DOID:5041	esophageal cancer		ISO	RGD:1321301	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8718456	Usp47	ubiquitin specific peptidase 47	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718456	Usp47	ubiquitin specific peptidase 47	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8718456	Usp47	ubiquitin specific peptidase 47	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8718456	Usp47	ubiquitin specific peptidase 47	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8718456	Usp47	ubiquitin specific peptidase 47	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8718496	Hoxd3	homeobox D3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8718496	Hoxd3	homeobox D3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8718496	Hoxd3	homeobox D3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1344554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19283074
8718507	Cetn2	centrin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8718507	Cetn2	centrin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736112	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8718507	Cetn2	centrin 2	gene	DOID:1324	lung cancer		ISO	RGD:736112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8718507	Cetn2	centrin 2	gene	DOID:4362	cervical cancer		ISO	RGD:736112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8718507	Cetn2	centrin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718507	Cetn2	centrin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8718507	Cetn2	centrin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8718527	Magi3	membrane associated guanylate kinase, WW and PDZ domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8718527	Magi3	membrane associated guanylate kinase, WW and PDZ domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8718527	Magi3	membrane associated guanylate kinase, WW and PDZ domain containing 3	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1605836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868|PMID:31680123
8718527	Magi3	membrane associated guanylate kinase, WW and PDZ domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1605836	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8718527	Magi3	membrane associated guanylate kinase, WW and PDZ domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1605836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8718527	Magi3	membrane associated guanylate kinase, WW and PDZ domain containing 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1605836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8718527	Magi3	membrane associated guanylate kinase, WW and PDZ domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1605836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8718527	Magi3	membrane associated guanylate kinase, WW and PDZ domain containing 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8718527	Magi3	membrane associated guanylate kinase, WW and PDZ domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1605836	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8718527	Magi3	membrane associated guanylate kinase, WW and PDZ domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718527	Magi3	membrane associated guanylate kinase, WW and PDZ domain containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8718527	Magi3	membrane associated guanylate kinase, WW and PDZ domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8718527	Magi3	membrane associated guanylate kinase, WW and PDZ domain containing 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8718527	Magi3	membrane associated guanylate kinase, WW and PDZ domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8718527	Magi3	membrane associated guanylate kinase, WW and PDZ domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8718567	Ankrd34c	ankyrin repeat domain 34C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2291762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8718576	Amer2	APC membrane recruitment protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8718582	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8718582	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8718582	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8718582	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8718582	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8718582	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8718582	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8718582	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8718582	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8718582	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8718582	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8718582	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718582	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8718582	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8718582	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8718582	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8718582	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8718582	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8718653	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8718653	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8718653	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8718653	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:13580	cholestasis		ISO	RGD:1322766	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
8718653	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1322766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8718653	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1322766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8718653	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8718653	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8718653	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718653	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8718653	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8718653	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8718679	Kiss1r	KISS1 receptor	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:731975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868
8718679	Kiss1r	KISS1 receptor	gene	DOID:0090074	hypogonadotropic hypogonadism 8 with or without anosmia		ISO	RGD:731975	D	RGD:7240710	20180130	OMIM			
8718679	Kiss1r	KISS1 receptor	gene	DOID:0090074	hypogonadotropic hypogonadism 8 with or without anosmia		ISO	RGD:731975	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmia	PMID:23643382|PMID:25741868|PMID:28492532
8718679	Kiss1r	KISS1 receptor	gene	DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia		ISO	RGD:731975	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	
8718679	Kiss1r	KISS1 receptor	gene	DOID:0112310	central precocious puberty 1		ISO	RGD:731975	D	RGD:7240710	20180130	OMIM			
8718679	Kiss1r	KISS1 receptor	gene	DOID:0112310	central precocious puberty 1		ISO	RGD:731975	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Central precocious puberty 1 | ClinVar Annotator: match by term: KISS1R-related condition	PMID:14573733|PMID:17700012|PMID:23349759|PMID:25741868|PMID:26199944|PMID:28492532|PMID:31073722|PMID:32171629|PMID:35729303|PMID:36123965
8718679	Kiss1r	KISS1 receptor	gene	DOID:1612	breast cancer	severity	ISO	RGD:731975	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor:high levels of both KISS1 and KISS1R in ERalpha+ tumors treated with tamoxifen associated with shorter relapse-free survival	PMID:17914099|REF_RGD_ID:2292123
8718679	Kiss1r	KISS1 receptor	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:731975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868
8718679	Kiss1r	KISS1 receptor	gene	DOID:1924	hypogonadism		ISO	RGD:731975	D	RGD:9068941	20250116	RGD		Hypogonadotropic hypogonadism, OMIM:146110   DNA:deletion:exon:155-bp deletion of the intron4/exon5 splice acceptor site and part of exon 5	PMID:12944565|REF_RGD_ID:1599279
8718679	Kiss1r	KISS1 receptor	gene	DOID:2671	transitional cell carcinoma	severity	ISO	RGD:731975	D	RGD:9068941	20200609	RGD		urinary bladder TCC; mRNA:increased expression:tumor:versus normal bladder, with significantly higher expression in high-grade vs low-grade tumors (p=0.03)	PMID:17164231|REF_RGD_ID:2292127
8718679	Kiss1r	KISS1 receptor	gene	DOID:3113	papillary carcinoma		ISO	RGD:731975	D	RGD:9068941	20200609	RGD			PMID:11994395|REF_RGD_ID:1599280
8718679	Kiss1r	KISS1 receptor	gene	DOID:630	genetic disease		ISO	RGD:731975	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8718679	Kiss1r	KISS1 receptor	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:731975	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
8718679	Kiss1r	KISS1 receptor	gene	DOID:9001239	Delayed Puberty		ISO	RGD:731975	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:21527035
8718679	Kiss1r	KISS1 receptor	gene	DOID:9004030	Pituitary Stalk Interruption Syndrome		ISO	RGD:731975	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pituitary stalk interruption syndrome	PMID:25741868
8718679	Kiss1r	KISS1 receptor	gene	DOID:9007284	Precocious Puberty		ISO	RGD:731975	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	
8718679	Kiss1r	KISS1 receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8718688	Fah	fumarylacetoacetate hydrolase	gene	DOID:0050726	tyrosinemia type I		ISO	RGD:733367	D	RGD:7240710	20180425	OMIM			
8718688	Fah	fumarylacetoacetate hydrolase	gene	DOID:0050726	tyrosinemia type I		ISO	RGD:733367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FAH-related disorder | ClinVar Annotator: match by term: Hepatorenal tyrosinemia | ClinVar Annotator: match by term: TYROSINEMIA, TYPE I | ClinVar Annotator: match by term: Tyrosinemia type I	PMID:10073910|PMID:10508789|PMID:11196105|PMID:11278491|PMID:11476670|PMID:11754109|PMID:12203990|PMID:12555948|PMID:1401056|PMID:14691918|PMID:15465000|PMID:15638932|PMID:16199547|PMID:16521249|PMID:17576681|PMID:19569981|PMID:19763152|PMID:20301688|PMID:20307669|PMID:21117323|PMID:21752152|PMID:21764616|PMID:22145516|PMID:22406018|PMID:22554029|PMID:22802474|PMID:22884142|PMID:22975760|PMID:23000314|PMID:23193487|PMID:23225041|PMID:23348723|PMID:23430822|PMID:23430836|PMID:23895425|PMID:23927806|PMID:24016420|PMID:24033266|PMID:24516753|PMID:24555242|PMID:24756054|PMID:25081276|PMID:25087612|PMID:25256450|PMID:25525159|PMID:25564536|PMID:25640679|PMID:25681080|PMID:25741868|PMID:27093575|PMID:27397503|PMID:27487552|PMID:27814443|PMID:28039895|PMID:28468868|PMID:28492532|PMID:28755182|PMID:29326876|PMID:30414057|PMID:30954369|PMID:31030436|PMID:31300554|PMID:31568711|PMID:31574857|PMID:31584309|PMID:31965297|PMID:32778825|PMID:32832707|PMID:33046095|PMID:33083013|PMID:33882394|PMID:34023347|PMID:34938978|PMID:35281663|PMID:35800472|PMID:36393896|PMID:36463171|PMID:37688338|PMID:37795850|PMID:38132825|PMID:39260601|PMID:39311361|PMID:39411402|PMID:7550234|PMID:7757089|PMID:7929843|PMID:7942842|PMID:7977370|PMID:8005583|PMID:8028615|PMID:8076937|PMID:8162054|PMID:8204664|PMID:8318997|PMID:8364576|PMID:8557261|PMID:8723690|PMID:8723698|PMID:8829657|PMID:9101289|PMID:9536098|PMID:9633815
8718688	Fah	fumarylacetoacetate hydrolase	gene	DOID:0050726	tyrosinemia type I	treatment	ISO	RGD:62225	D	RGD:9068941	20200609	RGD			PMID:30368954|REF_RGD_ID:14401588
8718688	Fah	fumarylacetoacetate hydrolase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8718688	Fah	fumarylacetoacetate hydrolase	gene	DOID:0080600	COVID-19		ISO	RGD:733367	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8718688	Fah	fumarylacetoacetate hydrolase	gene	DOID:10534	stomach cancer		ISO	RGD:733367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8718688	Fah	fumarylacetoacetate hydrolase	gene	DOID:10609	rickets		ISO	RGD:733367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: rickets	PMID:25741868
8718688	Fah	fumarylacetoacetate hydrolase	gene	DOID:10763	hypertension		ISO	RGD:61932	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney	PMID:15731461|REF_RGD_ID:1559295
8718688	Fah	fumarylacetoacetate hydrolase	gene	DOID:1909	melanoma		ISO	RGD:733367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8718688	Fah	fumarylacetoacetate hydrolase	gene	DOID:409	liver disease		ISO	RGD:62225	D	RGD:9068941	20200609	RGD			PMID:7545495|REF_RGD_ID:737742
8718688	Fah	fumarylacetoacetate hydrolase	gene	DOID:4362	cervical cancer		ISO	RGD:733367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8718688	Fah	fumarylacetoacetate hydrolase	gene	DOID:5082	liver cirrhosis		ISO	RGD:733367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cirrhosis of liver	PMID:11476670|PMID:12203990|PMID:20301688|PMID:21752152|PMID:23348723|PMID:23430822|PMID:23430836|PMID:24555242|PMID:25081276|PMID:25256450|PMID:25681080|PMID:25741868|PMID:28492532|PMID:35281663|PMID:8557261|PMID:8723690|PMID:8829657|PMID:9101289|PMID:9633815
8718688	Fah	fumarylacetoacetate hydrolase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718688	Fah	fumarylacetoacetate hydrolase	gene	DOID:630	genetic disease		ISO	RGD:733367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8718688	Fah	fumarylacetoacetate hydrolase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:11476670|PMID:12203990|PMID:20301688|PMID:21752152|PMID:23348723|PMID:23430822|PMID:23430836|PMID:24555242|PMID:25081276|PMID:25256450|PMID:25681080|PMID:25741868|PMID:28492532|PMID:35281663|PMID:8557261|PMID:8723690|PMID:8829657|PMID:9101289|PMID:9633815
8718688	Fah	fumarylacetoacetate hydrolase	gene	DOID:687	hepatoblastoma		ISO	RGD:733367	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	
8718688	Fah	fumarylacetoacetate hydrolase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:11476670|PMID:12203990|PMID:20301688|PMID:21752152|PMID:23348723|PMID:23430822|PMID:23430836|PMID:24555242|PMID:25081276|PMID:25256450|PMID:25681080|PMID:25741868|PMID:28492532|PMID:35281663|PMID:8557261|PMID:8723690|PMID:8829657|PMID:9633815
8718688	Fah	fumarylacetoacetate hydrolase	gene	DOID:9007874	Liver Failure		ISO	RGD:61932	D	RGD:9068941	20200609	RGD			PMID:27510266|REF_RGD_ID:14398823
8718688	Fah	fumarylacetoacetate hydrolase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8718688	Fah	fumarylacetoacetate hydrolase	gene	DOID:9275	tyrosinemia		ISO	RGD:733367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FAH deficiency | ClinVar Annotator: match by term: Fumarylacetoacetase deficiency | ClinVar Annotator: match by term: Hypertyrosinemia | ClinVar Annotator: match by term: Tyrosinemia	PMID:11476670|PMID:12203990|PMID:16521249|PMID:20301688|PMID:21752152|PMID:21764616|PMID:22802474|PMID:23348723|PMID:23430822|PMID:23430836|PMID:24016420|PMID:24555242|PMID:25081276|PMID:25256450|PMID:25564536|PMID:25681080|PMID:25741868|PMID:28492532|PMID:31300554|PMID:31568711|PMID:35281663|PMID:8557261|PMID:8723690|PMID:8829657|PMID:9633815
8718710	Cpeb2	cytoplasmic polyadenylation element binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316707	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8718710	Cpeb2	cytoplasmic polyadenylation element binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20378996
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:732730	D	RGD:9068941	20240229	RGD		DNA:SNP:: (rs2856966) (human)	PMID:20554694|REF_RGD_ID:401976551
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:0070355	overactive bladder syndrome		ISO	RGD:732730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16322346
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:2037	D	RGD:9068941	20200609	RGD			PMID:16888218|REF_RGD_ID:2325295
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:0080998	acute necrotizing pancreatitis		ISO	RGD:2037	D	RGD:9068941	20200609	RGD			PMID:15702783|REF_RGD_ID:2325308
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:1115	sarcoma		ISO	RGD:732730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:11832	visual epilepsy		ISO	RGD:732730	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:29673861
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:1679	cystitis		ISO	RGD:2037	D	RGD:9068941	20200609	RGD		mRNA:increased expression:urinary bladder urothelium	PMID:18563302|REF_RGD_ID:2315964
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:2018	hyperinsulinism		ISO	RGD:10084	D	RGD:9068941	20200609	RGD			PMID:14742740|REF_RGD_ID:2325255
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:3602	toxic encephalopathy		ISO	RGD:732730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:29604313
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:732730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2037	D	RGD:9068941	20200609	RGD			PMID:15913892|REF_RGD_ID:2325306
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2037	D	RGD:9068941	20200609	RGD		protein:altered expression:spinal cord,dorsal root ganglion, urinary bladder	PMID:15698618|REF_RGD_ID:2325309
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:2037	D	RGD:9068941	20200609	RGD			PMID:16689670|REF_RGD_ID:2325298
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:9001366	Psychomotor Agitation		ISO	RGD:732730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17658665
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:9002221	Hyperplasia		ISO	RGD:10084	D	RGD:9068941	20200609	RGD			PMID:14742740|REF_RGD_ID:2325255
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:9003165	Miosis		ISO	RGD:732730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8637627
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:9004001	Facial Nerve Injuries		ISO	RGD:2037	D	RGD:9068941	20200609	RGD		mRNA:increased expression:facial VII nucleus	PMID:19427307|REF_RGD_ID:2325258
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2037	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampal granule cell	PMID:19647005|REF_RGD_ID:2315956
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2037	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas, hypothalamus	PMID:9864055|REF_RGD_ID:2325314
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8718744	Adcyap1	adenylate cyclase activating polypeptide 1	gene	DOID:9009039	Hyperemia		ISO	RGD:732730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8637627
8718756	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8718756	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8718756	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:0080600	COVID-19		ISO	RGD:1320399	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8718756	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:10283	prostate cancer		ISO	RGD:1320399	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8718756	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:10283	prostate cancer		ISO	RGD:1320399	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8718756	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1320399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8718756	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1320399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8718756	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1320399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8718756	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:5119	ovarian cyst		ISO	RGD:1320399	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
8718756	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718756	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8718756	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8718756	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8718814	Eea1	early endosome antigen 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8718814	Eea1	early endosome antigen 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8718814	Eea1	early endosome antigen 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8718814	Eea1	early endosome antigen 1	gene	DOID:1909	melanoma		ISO	RGD:1320911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8718814	Eea1	early endosome antigen 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8718814	Eea1	early endosome antigen 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8718814	Eea1	early endosome antigen 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320911	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8718814	Eea1	early endosome antigen 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8718814	Eea1	early endosome antigen 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8718814	Eea1	early endosome antigen 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8718814	Eea1	early endosome antigen 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:0060009	MHC class I deficiency		ISO	RGD:1348865	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BLS, TYPE I | ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: MHC class I deficiency	PMID:11529920|PMID:12067308|PMID:16199547|PMID:17576681|PMID:23662797|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7517574|PMID:9536098
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:0060058	lymphoma		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:0060704	lymphoproliferative syndrome	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation	PMID:10560675|REF_RGD_ID:1601413
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:0080822	aspirin-induced respiratory disease		ISO	RGD:1348865	D	RGD:9068941	20200609	RGD			PMID:21796142|REF_RGD_ID:5147839
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:1025	tuberculoid leprosy	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :	PMID:9062973|REF_RGD_ID:5147851
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:10316	pneumoconiosis		ISO	RGD:1348865	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506645
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:SNP: :(rs241448)(human)	PMID:16595160|REF_RGD_ID:6482265
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:1115	sarcoma		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:12206	dengue hemorrhagic fever	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:SNPs: :	PMID:18071882|REF_RGD_ID:6482261
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:1577	limited scleroderma	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD			PMID:16112028|REF_RGD_ID:1578361
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:1580	diffuse scleroderma	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD			PMID:16112028|REF_RGD_ID:1578361
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:1909	melanoma		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:2377	multiple sclerosis		ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:SNPs:CDs:p.V379I, A565T(human)	PMID:7928442|REF_RGD_ID:6482280
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:2377	multiple sclerosis	no_association	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:SNPs:CDs:p.V379I, A565T(human)	PMID:7797617|REF_RGD_ID:6482281
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:2377	multiple sclerosis	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:synonymous mutation: :	PMID:7759306|REF_RGD_ID:6482279
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:2893	cervix carcinoma	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:SNP: :(rs4148876)(human)	PMID:17366619|REF_RGD_ID:6482264
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :	PMID:9062973|REF_RGD_ID:5147851
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:3042	allergic contact dermatitis	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD			PMID:9303338|REF_RGD_ID:6482276
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		protein:decreased expression:esophagus	PMID:19492245|REF_RGD_ID:6482249
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:4362	cervical cancer		ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:SNPs: :	PMID:18248301|REF_RGD_ID:6482260
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:4362	cervical cancer	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:SNPs: :	PMID:12648582|REF_RGD_ID:6482272
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:6039	uveal melanoma		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:6196	reactive arthritis		ISO	RGD:1348865	D	RGD:9068941	20200609	RGD			PMID:7748224|REF_RGD_ID:6482278
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:630	genetic disease		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:SNPs: :	PMID:19480848|REF_RGD_ID:6482250
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1348865	D	RGD:9068941	20200609	RGD			PMID:9645419|REF_RGD_ID:6482275
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:8893	psoriasis	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:SNPs:CDs:p.T665A, Q687Q(human)	PMID:17581627|REF_RGD_ID:6482263
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348865	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:9006078	MHC CLASS I DEFICIENCY 2		ISO	RGD:1348865	D	RGD:7240710	20240619	OMIM			
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:9006078	MHC CLASS I DEFICIENCY 2		ISO	RGD:1348865	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MHC CLASS I DEFICIENCY 2 | ClinVar Annotator: match by term: MHC class I deficiency 2 | ClinVar Annotator: match by term: TAP2-related condition	PMID:11529920|PMID:12067308|PMID:23662797|PMID:24033266|PMID:25741868|PMID:28492532|PMID:36229627|PMID:7517574
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:9007425	Diffuse Panbronchiolitis	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:exon:	PMID:10323341|REF_RGD_ID:5147847
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:9009393	MHC CLASS I DEFICIENCY 1		ISO	RGD:1348865	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MHC class I deficiency 1	PMID:24033266|PMID:25741868|PMID:26122175|PMID:28492532
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:9074	systemic lupus erythematosus	no_association	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD			PMID:9014588|REF_RGD_ID:6482277
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD			PMID:12634240|REF_RGD_ID:6482273
8718847	Tap2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1348865	D	RGD:9068941	20200609	RGD			PMID:1300236|PMID:17192492|REF_RGD_ID:2312368|REF_RGD_ID:2312373
8718868	Ttc22	tetratricopeptide repeat domain 22	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8718868	Ttc22	tetratricopeptide repeat domain 22	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8718868	Ttc22	tetratricopeptide repeat domain 22	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8718868	Ttc22	tetratricopeptide repeat domain 22	gene	DOID:4362	cervical cancer		ISO	RGD:1605998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8718868	Ttc22	tetratricopeptide repeat domain 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718868	Ttc22	tetratricopeptide repeat domain 22	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8718879	Stx18	syntaxin 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8718879	Stx18	syntaxin 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8718879	Stx18	syntaxin 18	gene	DOID:10534	stomach cancer		ISO	RGD:1320740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8718879	Stx18	syntaxin 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8718879	Stx18	syntaxin 18	gene	DOID:1909	melanoma		ISO	RGD:1320740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8718879	Stx18	syntaxin 18	gene	DOID:3275	thymoma		ISO	RGD:1320740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8718879	Stx18	syntaxin 18	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8718879	Stx18	syntaxin 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1320740	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8718879	Stx18	syntaxin 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718879	Stx18	syntaxin 18	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8718879	Stx18	syntaxin 18	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8718879	Stx18	syntaxin 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8718908	Rnf181	ring finger protein 181	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8718908	Rnf181	ring finger protein 181	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8718908	Rnf181	ring finger protein 181	gene	DOID:1115	sarcoma		ISO	RGD:1602715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8718908	Rnf181	ring finger protein 181	gene	DOID:5041	esophageal cancer		ISO	RGD:1602715	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8718908	Rnf181	ring finger protein 181	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718917	Lims2	LIM zinc finger domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8718917	Lims2	LIM zinc finger domain containing 2	gene	DOID:0110288	autosomal recessive limb-girdle muscular dystrophy type 2W		ISO	RGD:1313204	D	RGD:7240710	20190315	OMIM			
8718917	Lims2	LIM zinc finger domain containing 2	gene	DOID:0110288	autosomal recessive limb-girdle muscular dystrophy type 2W		ISO	RGD:1313204	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W | ClinVar Annotator: match by term: Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W	PMID:16199547|PMID:17576681|PMID:25589244|PMID:25741868|PMID:28492532|PMID:9536098
8718917	Lims2	LIM zinc finger domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8718917	Lims2	LIM zinc finger domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1313204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8718917	Lims2	LIM zinc finger domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313204	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8718917	Lims2	LIM zinc finger domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718917	Lims2	LIM zinc finger domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8718955	Dao	D-amino acid oxidase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8718955	Dao	D-amino acid oxidase	gene	DOID:12849	autistic disorder		ISO	RGD:1350103	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17629951
8718955	Dao	D-amino acid oxidase	gene	DOID:1324	lung cancer		ISO	RGD:1350103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8718955	Dao	D-amino acid oxidase	gene	DOID:1909	melanoma		ISO	RGD:1350103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8718955	Dao	D-amino acid oxidase	gene	DOID:3275	thymoma		ISO	RGD:1350103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8718955	Dao	D-amino acid oxidase	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1350103	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868
8718955	Dao	D-amino acid oxidase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8718955	Dao	D-amino acid oxidase	gene	DOID:5419	schizophrenia		ISO	RGD:1350103	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18583979
8718955	Dao	D-amino acid oxidase	gene	DOID:5419	schizophrenia	susceptibility	ISO	RGD:1350103	D	RGD:9068941	20200806	RGD		DNA:SNPs: :	PMID:14966479|REF_RGD_ID:1358627
8718955	Dao	D-amino acid oxidase	gene	DOID:630	genetic disease		ISO	RGD:1350103	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8718955	Dao	D-amino acid oxidase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8718955	Dao	D-amino acid oxidase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350103	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8718955	Dao	D-amino acid oxidase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8718979	Edem1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8718979	Edem1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8718979	Edem1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:0060478	Zika fever		ISO	RGD:1557813	D	RGD:9068941	20200702	RGD		mRNA:increased expression:brain	PMID:30241539|REF_RGD_ID:32733625
8718979	Edem1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8718979	Edem1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:1909	melanoma		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8718979	Edem1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349759	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8718979	Edem1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718979	Edem1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8718979	Edem1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8718979	Edem1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1349759	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8718979	Edem1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319845	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:35821753
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:1059	intellectual disability		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:35821753
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:1074	kidney failure		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:25741868|PMID:35821753
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:11162	respiratory failure		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868|PMID:35821753
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:1143	exotropia		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:35821753
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:11782	astigmatism		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:35821753
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:11830	myopia		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:35821753
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:35821753
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:1909	melanoma		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:2355	anemia		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:35821753
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:3070	high grade glioma		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:630	genetic disease		ISO	RGD:1319845	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:9000628	Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities		ISO	RGD:1319845	D	RGD:7240710	20221123	OMIM			
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:9000628	Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities		ISO	RGD:1319845	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities	PMID:25741868|PMID:35821753|PMID:35871492
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:9000972	Fever		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	PMID:25741868|PMID:35821753
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:35821753
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:35821753
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoalbuminemia	PMID:25741868|PMID:35821753
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:35821753
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:9008385	Vomiting		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868|PMID:35821753
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:9009050	Hypocalcemia		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	PMID:25741868|PMID:35821753
8718994	Fra10ac1	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:35821753
8719040	Gpr22	G protein-coupled receptor 22	gene	DOID:9351	diabetes mellitus		ISO	RGD:1310848	D	RGD:9068941	20251009	RGD		mRNA:altered expression:right ventricle,aorta, kidney,brain	PMID:24937127|REF_RGD_ID:628374356
8719051	Ca3	carbonic anhydrase 3	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:2241	D	RGD:9068941	20241121	RGD		mRNA,protein:decreased expression:cytosol,liver	PMID:23083309|REF_RGD_ID:408425974
8719051	Ca3	carbonic anhydrase 3	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:2241	D	RGD:9068941	20241121	RGD		protein:decreased expression:cytosol	PMID:25684186|REF_RGD_ID:408418736
8719051	Ca3	carbonic anhydrase 3	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:2241	D	RGD:9068941	20241121	RGD		protein:increased expression:liver	PMID:35108454|REF_RGD_ID:408426003
8719051	Ca3	carbonic anhydrase 3	gene	DOID:10316	pneumoconiosis		ISO	RGD:1353547	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25445010
8719051	Ca3	carbonic anhydrase 3	gene	DOID:1115	sarcoma		ISO	RGD:1353547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8719051	Ca3	carbonic anhydrase 3	gene	DOID:12528	lesion of sciatic nerve	treatment	ISO	RGD:2241	D	RGD:9068941	20241121	RGD			PMID:7969243|REF_RGD_ID:408427352
8719051	Ca3	carbonic anhydrase 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1332219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8719051	Ca3	carbonic anhydrase 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1353547	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
8719051	Ca3	carbonic anhydrase 3	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1332219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11420682
8719051	Ca3	carbonic anhydrase 3	gene	DOID:9006302	Binge Drinking		ISO	RGD:2241	D	RGD:9068941	20241121	RGD		associated with Alcoholic Liver Diseases;protein:decreased expression:liver	PMID:22545783|REF_RGD_ID:7495839
8719051	Ca3	carbonic anhydrase 3	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1332219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8719051	Ca3	carbonic anhydrase 3	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1353547	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8719051	Ca3	carbonic anhydrase 3	gene	DOID:9452	steatotic liver disease		ISO	RGD:1332219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8719051	Ca3	carbonic anhydrase 3	gene	DOID:9970	obesity		ISO	RGD:1353547	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
8719051	Ca3	carbonic anhydrase 3	gene	DOID:9970	obesity		ISO	RGD:2241	D	RGD:9068941	20241121	RGD		protein:decreased expression:adipocyte	PMID:8476041|REF_RGD_ID:408426009
8719062	Slc66a3	solute carrier family 66 member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8719062	Slc66a3	solute carrier family 66 member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1315648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8719062	Slc66a3	solute carrier family 66 member 3	gene	DOID:1324	lung cancer		ISO	RGD:1315648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8719062	Slc66a3	solute carrier family 66 member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1315648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8719062	Slc66a3	solute carrier family 66 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719062	Slc66a3	solute carrier family 66 member 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315648	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8719062	Slc66a3	solute carrier family 66 member 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8719062	Slc66a3	solute carrier family 66 member 3	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1315648	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:25058030
8719073	Alkal2	ALK and LTK ligand 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1602961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8719073	Alkal2	ALK and LTK ligand 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8719073	Alkal2	ALK and LTK ligand 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602961	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8719073	Alkal2	ALK and LTK ligand 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719073	Alkal2	ALK and LTK ligand 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8719081	C3	complement C3	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:2232	D	RGD:9068941	20241114	RGD		protein:increased activity:blood	PMID:30657461|REF_RGD_ID:408418720
8719081	C3	complement C3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8719081	C3	complement C3	gene	DOID:0060284	paroxysmal nocturnal hemoglobinuria		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		protein:increased processing:erythrocyte	PMID:6915939|REF_RGD_ID:11040769
8719081	C3	complement C3	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	ameliorates	ISO	RGD:10256	D	RGD:9068941	20241114	RGD			PMID:17321001|REF_RGD_ID:408418721
8719081	C3	complement C3	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	severity	ISO	RGD:2232	D	RGD:9068941	20241114	RGD			PMID:36653797|REF_RGD_ID:408395146
8719081	C3	complement C3	gene	DOID:0080162	lupus nephritis		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:21888025|REF_RGD_ID:7175544
8719081	C3	complement C3	gene	DOID:0080162	lupus nephritis		ISO	RGD:735504	D	RGD:9068941	20220210	CTD		CTD Direct Evidence: marker/mechanism	PMID:31182691
8719081	C3	complement C3	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:735504	D	RGD:7240710	20260729	OMIM			
8719081	C3	complement C3	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:735504	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome	PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20301541|PMID:20595690|PMID:21125405|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25951460|PMID:26283675|PMID:26613027|PMID:28492532|PMID:28596415|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30773290|PMID:32950058|PMID:33213850
8719081	C3	complement C3	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:735504	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome	PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21125405|PMID:22246034|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:28187980|PMID:28492532|PMID:28596415|PMID:29500241|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32950058|PMID:33213850
8719081	C3	complement C3	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:735504	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21125405|PMID:22246034|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:28187980|PMID:28492532|PMID:28596415|PMID:28752844|PMID:29500241|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33456446|PMID:33609329|PMID:34169201
8719081	C3	complement C3	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:735504	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21810760|PMID:22246034|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:28187980|PMID:28492532|PMID:28596415|PMID:28752844|PMID:28939980|PMID:29500241|PMID:29566171|PMID:29670616|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30377230|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33456446|PMID:33609329|PMID:34169201|PMID:34631043|PMID:35295324
8719081	C3	complement C3	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:735504	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome	PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21810760|PMID:22246034|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:23847193|PMID:24029428|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:28187980|PMID:28492532|PMID:28596415|PMID:28752844|PMID:28939980|PMID:29500241|PMID:29566171|PMID:29670616|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30377230|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33456446|PMID:33609329|PMID:34169201|PMID:34631043|PMID:34714369|PMID:34973142|PMID:35295324
8719081	C3	complement C3	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:735504	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome	PMID:12462331|PMID:14639503|PMID:17576681|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20047980|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21501302|PMID:21810760|PMID:22246034|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:23847193|PMID:24029428|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:28187980|PMID:28492532|PMID:28596415|PMID:28614243|PMID:28752844|PMID:28939980|PMID:29500241|PMID:29566171|PMID:29670616|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30377230|PMID:30662780|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33456446|PMID:33609329|PMID:34169201|PMID:34631043|PMID:34714369|PMID:34973142|PMID:35295324|PMID:9536098
8719081	C3	complement C3	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:735504	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:12462331|PMID:14639503|PMID:16385454|PMID:17576681|PMID:17634448|PMID:18325906|PMID:1879662|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20016463|PMID:20047980|PMID:20203157|PMID:20301500|PMID:20301541|PMID:20595690|PMID:21501302|PMID:21810760|PMID:22246034|PMID:22594991|PMID:22669319|PMID:22673887|PMID:23307876|PMID:23314101|PMID:23431077|PMID:23847193|PMID:24029428|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:26767664|PMID:26830967|PMID:27814381|PMID:28011711|PMID:28187980|PMID:28492532|PMID:28596415|PMID:28614243|PMID:28752844|PMID:28939980|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29670616|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30377230|PMID:30662780|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33456446|PMID:33609329|PMID:34169201|PMID:34631043|PMID:34714369|PMID:34748552|PMID:34973142|PMID:35295324|PMID:35373096|PMID:9536098
8719081	C3	complement C3	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:735504	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:12462331|PMID:14639503|PMID:17576681|PMID:17634448|PMID:18325906|PMID:1879662|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20016463|PMID:20047980|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21501302|PMID:21810760|PMID:22246034|PMID:22594991|PMID:22669319|PMID:22673887|PMID:23307876|PMID:23314101|PMID:23431077|PMID:23847193|PMID:24029428|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:26767664|PMID:26830967|PMID:27814381|PMID:28011711|PMID:28187980|PMID:28492532|PMID:28596415|PMID:28614243|PMID:28752844|PMID:28939980|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29670616|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30377230|PMID:30662780|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33456446|PMID:33609329|PMID:34169201|PMID:34631043|PMID:34714369|PMID:34748552|PMID:34973142|PMID:35295324|PMID:35373096|PMID:7961791|PMID:9536098
8719081	C3	complement C3	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:735504	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:12462331|PMID:14639503|PMID:17576681|PMID:17634448|PMID:18325906|PMID:1879662|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20016463|PMID:20047980|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21501302|PMID:21810760|PMID:22246034|PMID:22594991|PMID:22669319|PMID:22673887|PMID:23307876|PMID:23314101|PMID:23431077|PMID:23847193|PMID:24029428|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:26767664|PMID:26830967|PMID:27814381|PMID:28011711|PMID:28187980|PMID:28492532|PMID:28596415|PMID:28614243|PMID:28752844|PMID:28939980|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29670616|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30377230|PMID:30662780|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33456446|PMID:33609329|PMID:34169201|PMID:34631043|PMID:34714369|PMID:34748552|PMID:34973142|PMID:35295324|PMID:35372954|PMID:35373096|PMID:37369098|PMID:37466676|PMID:7961791|PMID:9536098
8719081	C3	complement C3	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:735504	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 | ClinVar Annotator: match by term: THBD-related condition	PMID:12462331|PMID:14639503|PMID:17576681|PMID:17634448|PMID:18325906|PMID:1879662|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20016463|PMID:20047980|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21501302|PMID:21810760|PMID:22246034|PMID:22594991|PMID:22669319|PMID:22673887|PMID:23307876|PMID:23314101|PMID:23431077|PMID:23847193|PMID:23963626|PMID:24029428|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:26767664|PMID:26830967|PMID:27814381|PMID:28011711|PMID:28187980|PMID:28492532|PMID:28596415|PMID:28614243|PMID:28752844|PMID:28939980|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29670616|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30377230|PMID:30662780|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33456446|PMID:33609329|PMID:34169201|PMID:34631043|PMID:34714369|PMID:34748552|PMID:34973142|PMID:35295324|PMID:35372954|PMID:35373096|PMID:37369098|PMID:37466676|PMID:6103091|PMID:7961791|PMID:9536098
8719081	C3	complement C3	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:735504	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:11034390|PMID:11387479|PMID:14639503|PMID:15187133|PMID:1577777|PMID:16499568|PMID:17434528|PMID:17576681|PMID:17634448|PMID:18325906|PMID:1879662|PMID:18796626|PMID:19168221|PMID:1976733|PMID:20016463|PMID:20083651|PMID:20091675|PMID:20301541|PMID:20589629|PMID:20595690|PMID:20664795|PMID:20951140|PMID:21285368|PMID:21317894|PMID:21501302|PMID:21576320|PMID:21683447|PMID:21810760|PMID:22250080|PMID:22718507|PMID:23112567|PMID:23307876|PMID:23431077|PMID:23847193|PMID:24038559|PMID:24065820|PMID:24352218|PMID:24853860|PMID:25135762|PMID:25608561|PMID:25628052|PMID:25741868|PMID:25758434|PMID:25899302|PMID:25951460|PMID:26283675|PMID:26361694|PMID:26559391|PMID:27190382|PMID:27784126|PMID:27799617|PMID:27814381|PMID:28056875|PMID:28254726|PMID:28492532|PMID:28611769|PMID:28752844|PMID:28939980|PMID:29046944|PMID:29282226|PMID:29511899|PMID:29556035|PMID:29610995|PMID:29888403|PMID:30039480|PMID:30131807|PMID:30344987|PMID:30890598|PMID:32540405|PMID:32765494|PMID:33238263|PMID:33456446|PMID:33841858|PMID:33920896|PMID:34169201|PMID:34248927|PMID:36038546|PMID:36622444|PMID:36793547|PMID:36845135|PMID:37367079|PMID:37369098|PMID:37685848|PMID:37744338|PMID:37795781|PMID:38741947|PMID:39690307|PMID:7868901|PMID:7870343|PMID:9041627|PMID:9445402|PMID:9536098|PMID:9988761
8719081	C3	complement C3	gene	DOID:0080600	COVID-19	severity	ISO	RGD:735504	D	RGD:9068941	20200625	RGD		protein:increased expression:serum (human)	PMID:32434211|REF_RGD_ID:30310238
8719081	C3	complement C3	gene	DOID:0080600	COVID-19	severity	ISO	RGD:735504	D	RGD:9068941	20200813	RGD		DNA:SNPs: :rs1047286,rs2230203,rs2230199(human)	PMID:32747830|REF_RGD_ID:38500238
8719081	C3	complement C3	gene	DOID:0080750	erythema nodosum		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		associated with Leprosy	PMID:2783924|REF_RGD_ID:7421527
8719081	C3	complement C3	gene	DOID:0110014	age related macular degeneration 1		ISO	RGD:735504	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Age related macular degeneration 1	PMID:25741868
8719081	C3	complement C3	gene	DOID:0110019	age related macular degeneration 7		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype: :multiple	PMID:19899988|REF_RGD_ID:7401252
8719081	C3	complement C3	gene	DOID:0110021	age related macular degeneration 9		ISO	RGD:735504	D	RGD:7240710	20260729	OMIM			
8719081	C3	complement C3	gene	DOID:0110021	age related macular degeneration 9		ISO	RGD:735504	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Age related macular degeneration 9	PMID:11034390|PMID:14639503|PMID:15187133|PMID:16499568|PMID:17434528|PMID:17634448|PMID:18325906|PMID:19168221|PMID:1976733|PMID:20083651|PMID:20091675|PMID:20664795|PMID:20951140|PMID:21576320|PMID:22718507|PMID:23112567|PMID:25488663|PMID:25741868|PMID:26283675|PMID:26559391|PMID:26826462|PMID:28254726|PMID:28492532|PMID:29327071|PMID:36622444|PMID:37367079|PMID:37369098|PMID:37466676|PMID:37685848|PMID:38344720|PMID:38741947|PMID:7870343
8719081	C3	complement C3	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:10256	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased activity:kidney	PMID:17960140|REF_RGD_ID:7175542
8719081	C3	complement C3	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased activity:kidney	PMID:17960140|REF_RGD_ID:7175542
8719081	C3	complement C3	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:735504	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:17634448|PMID:18325906|PMID:19168221|PMID:1976733|PMID:20664795|PMID:21576320|PMID:22718507|PMID:23112567|PMID:25741868|PMID:28492532|PMID:7870343
8719081	C3	complement C3	gene	DOID:10140	dry eye syndrome	severity	ISO	RGD:735504	D	RGD:9068941	20241114	RGD			PMID:28918083|REF_RGD_ID:408395145
8719081	C3	complement C3	gene	DOID:10175	optic papillitis		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic papillitis	PMID:25741868
8719081	C3	complement C3	gene	DOID:10247	pleurisy		ISO	RGD:10256	D	RGD:9068941	20200609	RGD		protein:increased activity:pleural cavity	PMID:18256172|REF_RGD_ID:5129520
8719081	C3	complement C3	gene	DOID:10325	silicosis		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		DNA:polymorphism (human)	PMID:12096683|REF_RGD_ID:5129516
8719081	C3	complement C3	gene	DOID:10534	stomach cancer		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8719081	C3	complement C3	gene	DOID:10591	pre-eclampsia	treatment	ISO	RGD:2232	D	RGD:9068941	20200609	RGD			PMID:23685261|REF_RGD_ID:7411624
8719081	C3	complement C3	gene	DOID:10611	protein-losing enteropathy		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Protein-losing enteropathy	PMID:25741868
8719081	C3	complement C3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs22300199 (human)	PMID:22300950|REF_RGD_ID:7401250
8719081	C3	complement C3	gene	DOID:10690	mastitis		ISO	RGD:10256	D	RGD:9068941	20200609	RGD			PMID:8746955|REF_RGD_ID:7401278
8719081	C3	complement C3	gene	DOID:10754	otitis media		IDA		D	RGD:11554035|PMID:19139190	20161019	RGD			
8719081	C3	complement C3	gene	DOID:10763	hypertension		ISO	RGD:2232	D	RGD:9068941	20200609	RGD			PMID:22416803|REF_RGD_ID:11040890
8719081	C3	complement C3	gene	DOID:10873	Kuhnt-Junius degeneration		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2241394 (human)	PMID:22174912|REF_RGD_ID:7401249
8719081	C3	complement C3	gene	DOID:10887	lepromatous leprosy	severity	ISO	RGD:735504	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:6342123|REF_RGD_ID:7411735
8719081	C3	complement C3	gene	DOID:10923	sickle cell anemia	severity	ISO	RGD:735504	D	RGD:9068941	20200609	RGD			PMID:3896597|REF_RGD_ID:11040777
8719081	C3	complement C3	gene	DOID:10923	sickle cell anemia	severity	ISO	RGD:735504	D	RGD:9068941	20200609	RGD		protein:increased processing	PMID:7554454|REF_RGD_ID:11040773
8719081	C3	complement C3	gene	DOID:10976	membranous glomerulonephritis		ISO	RGD:2232	D	RGD:9068941	20200609	RGD			PMID:10729746|REF_RGD_ID:5129563
8719081	C3	complement C3	gene	DOID:10976	membranous glomerulonephritis		ISO	RGD:735504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25954969
8719081	C3	complement C3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8719081	C3	complement C3	gene	DOID:11123	IgA vasculitis		ISO	RGD:735504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1353212
8719081	C3	complement C3	gene	DOID:11339	pneumocystosis		ISO	RGD:2232	D	RGD:9068941	20200609	RGD			PMID:17169032|REF_RGD_ID:5129525
8719081	C3	complement C3	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		protein:increased activation:respiratory system fluid/secretion	PMID:3826891|REF_RGD_ID:5130153
8719081	C3	complement C3	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:2784515|REF_RGD_ID:5129694
8719081	C3	complement C3	gene	DOID:11446	sciatic neuropathy		ISO	RGD:2232	D	RGD:9068941	20200609	RGD		protein:increased expression:sciatic nerve	PMID:18052971|REF_RGD_ID:5129535
8719081	C3	complement C3	gene	DOID:11446	sciatic neuropathy		ISO	RGD:2232	D	RGD:9068941	20241128	RGD			PMID:1799436|REF_RGD_ID:408427358
8719081	C3	complement C3	gene	DOID:11555	Fuchs' endothelial dystrophy		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		protein:decreased expression:aqueous humour	PMID:21139973|REF_RGD_ID:7401271
8719081	C3	complement C3	gene	DOID:12134	factor VIII deficiency		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:6912882|REF_RGD_ID:11041156
8719081	C3	complement C3	gene	DOID:12306	vitiligo		ISO	RGD:10256	D	RGD:9068941	20200609	RGD			PMID:12121667|REF_RGD_ID:7401277
8719081	C3	complement C3	gene	DOID:1289	neurodegenerative disease		ISO	RGD:2232	D	RGD:9068941	20241116	RGD		mRNA,protein:increased expression:neuron, glial	PMID:27769255|REF_RGD_ID:408418724
8719081	C3	complement C3	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:10256	D	RGD:9068941	20200609	RGD			PMID:17675493|REF_RGD_ID:7401265
8719081	C3	complement C3	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:735504	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:17634448|PMID:18325906|PMID:19168221|PMID:1976733|PMID:20664795|PMID:21576320|PMID:22718507|PMID:23112567|PMID:25741868|PMID:28492532|PMID:7870343
8719081	C3	complement C3	gene	DOID:1324	lung cancer		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8719081	C3	complement C3	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		protein:altered expression:lung	PMID:18069416|REF_RGD_ID:5129502
8719081	C3	complement C3	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:735504	D	RGD:9068941	20241114	RGD			PMID:9176087|REF_RGD_ID:408418722
8719081	C3	complement C3	gene	DOID:1407	anterior uveitis		ISO	RGD:2232	D	RGD:9068941	20200609	RGD		protein:increased expression:eye anterior chamber, ciliary body, iris	PMID:16751365|REF_RGD_ID:1600478
8719081	C3	complement C3	gene	DOID:1407	anterior uveitis		ISO	RGD:735504	D	RGD:9068941	20200609	RGD			PMID:6610667|REF_RGD_ID:7411736
8719081	C3	complement C3	gene	DOID:14095	boutonneuse fever		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:3361150|REF_RGD_ID:11041575
8719081	C3	complement C3	gene	DOID:1909	melanoma		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8719081	C3	complement C3	gene	DOID:1909	melanoma	treatment	ISO	RGD:10256	D	RGD:9068941	20200609	RGD			PMID:17146472|REF_RGD_ID:7401279
8719081	C3	complement C3	gene	DOID:224	transient cerebral ischemia		ISO	RGD:735504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23199288
8719081	C3	complement C3	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:2232	D	RGD:9068941	20200609	RGD			PMID:22004711|REF_RGD_ID:7411628
8719081	C3	complement C3	gene	DOID:2316	brain ischemia		ISO	RGD:2232	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:14561876|REF_RGD_ID:5129543
8719081	C3	complement C3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8719081	C3	complement C3	gene	DOID:2452	thrombophilia	treatment	ISO	RGD:10256	D	RGD:9068941	20200609	RGD			PMID:15986360|REF_RGD_ID:11040779
8719081	C3	complement C3	gene	DOID:2559	opiate dependence		ISO	RGD:735504	D	RGD:9068941	20241114	RGD		protein:increased expression:serum	PMID:23850638|REF_RGD_ID:408395144
8719081	C3	complement C3	gene	DOID:2841	asthma		ISO	RGD:10256	D	RGD:9068941	20200609	RGD			PMID:11591733|REF_RGD_ID:5129517
8719081	C3	complement C3	gene	DOID:2841	asthma		ISO	RGD:10256	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:20802484|REF_RGD_ID:5129681
8719081	C3	complement C3	gene	DOID:2841	asthma		ISO	RGD:735504	D	RGD:9068941	20200609	RGD			PMID:20402389|REF_RGD_ID:5129537
8719081	C3	complement C3	gene	DOID:2841	asthma		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		DNA:SNP: :4896C>T (human)	PMID:15278436|REF_RGD_ID:5129512
8719081	C3	complement C3	gene	DOID:2841	asthma		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs11569562 (human)	PMID:18566738|REF_RGD_ID:5129501
8719081	C3	complement C3	gene	DOID:2841	asthma		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple (human)	PMID:16355111|REF_RGD_ID:5129505
8719081	C3	complement C3	gene	DOID:2841	asthma		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		Interaction with IL4RA	PMID:20395963|REF_RGD_ID:5129538
8719081	C3	complement C3	gene	DOID:2841	asthma	severity	ISO	RGD:735504	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20589464|REF_RGD_ID:5129519
8719081	C3	complement C3	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis	PMID:24029428|PMID:32581362
8719081	C3	complement C3	gene	DOID:2921	glomerulonephritis		ISO	RGD:2232	D	RGD:9068941	20200609	RGD			PMID:11950907|REF_RGD_ID:5129550
8719081	C3	complement C3	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:735504	D	RGD:9068941	20200609	RGD			PMID:19472039|REF_RGD_ID:5129500
8719081	C3	complement C3	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression, increased activity:kidney	PMID:11287758|REF_RGD_ID:7175543
8719081	C3	complement C3	gene	DOID:3021	acute kidney failure		ISO	RGD:735504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
8719081	C3	complement C3	gene	DOID:3070	high grade glioma		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8719081	C3	complement C3	gene	DOID:3070	high grade glioma	treatment	ISO	RGD:10256	D	RGD:9068941	20200609	RGD			PMID:21678475|REF_RGD_ID:7401275
8719081	C3	complement C3	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:17975205|REF_RGD_ID:5129504
8719081	C3	complement C3	gene	DOID:321	HTLV-1-associated myelopathy/tropical spastic paraparesis		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		protein:increased processing:plasma	PMID:7561187|REF_RGD_ID:11040775
8719081	C3	complement C3	gene	DOID:3275	thymoma		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8719081	C3	complement C3	gene	DOID:3310	atopic dermatitis		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:3923750|REF_RGD_ID:7401273
8719081	C3	complement C3	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:2232	D	RGD:9068941	20200609	RGD			PMID:19050293|REF_RGD_ID:5130169
8719081	C3	complement C3	gene	DOID:3324	mood disorder		ISO	RGD:735504	D	RGD:9068941	20241114	RGD			PMID:17321106|REF_RGD_ID:408418723
8719081	C3	complement C3	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:2232	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:22103620|REF_RGD_ID:7175514
8719081	C3	complement C3	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:735504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23199288
8719081	C3	complement C3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8719081	C3	complement C3	gene	DOID:418	systemic scleroderma		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:2803327|REF_RGD_ID:7421518
8719081	C3	complement C3	gene	DOID:4362	cervical cancer		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8719081	C3	complement C3	gene	DOID:4448	macular degeneration		ISO	RGD:10256	D	RGD:9068941	20260604	RGD			PMID:23747511|REF_RGD_ID:7401268
8719081	C3	complement C3	gene	DOID:4448	macular degeneration		ISO	RGD:735504	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:17767156|PMID:24036949|PMID:24036950|PMID:24036952
8719081	C3	complement C3	gene	DOID:4448	macular degeneration		ISO	RGD:735504	D	RGD:9068941	20260604	RGD		DNA:missense mutation:cds:p.R102G (rs2230199) (human)	PMID:20157618|REF_RGD_ID:7411715
8719081	C3	complement C3	gene	DOID:4448	macular degeneration		ISO	RGD:735504	D	RGD:9068941	20260604	RGD		DNA:polymorphism: :p.R102G (human)	PMID:18325906|REF_RGD_ID:7411723
8719081	C3	complement C3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8719081	C3	complement C3	gene	DOID:4483	rhinitis		ISO	RGD:2232	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nasal cavity epithelium	PMID:17345707|REF_RGD_ID:5129524
8719081	C3	complement C3	gene	DOID:4483	rhinitis		ISO	RGD:735504	D	RGD:9068941	20200609	RGD			PMID:20109314|REF_RGD_ID:5129539
8719081	C3	complement C3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8719081	C3	complement C3	gene	DOID:5162	arteriolosclerosis		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		associated with Renal Insufficiency, Chronic; protein:increased expression:serum:	PMID:22863782|REF_RGD_ID:7175516
8719081	C3	complement C3	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:735504	D	RGD:9068941	20200609	RGD			PMID:7561187|REF_RGD_ID:11040775
8719081	C3	complement C3	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:735504	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Primary Ovarian Insufficiency	PMID:25741868|PMID:28492532|PMID:31042289
8719081	C3	complement C3	gene	DOID:552	pneumonia		ISO	RGD:2232	D	RGD:9068941	20200609	RGD			PMID:10886251|REF_RGD_ID:5129562
8719081	C3	complement C3	gene	DOID:557	kidney disease		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:25741868
8719081	C3	complement C3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8719081	C3	complement C3	gene	DOID:5844	myocardial infarction		ISO	RGD:2232	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:myocardium	PMID:16996480|REF_RGD_ID:1600605
8719081	C3	complement C3	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:2232	D	RGD:9068941	20241116	RGD			PMID:31734577|REF_RGD_ID:408418726
8719081	C3	complement C3	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:735504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1350678
8719081	C3	complement C3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8719081	C3	complement C3	gene	DOID:6195	conjunctivitis		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		protein:increased expression:tear	PMID:3875643|REF_RGD_ID:7421524
8719081	C3	complement C3	gene	DOID:630	genetic disease		ISO	RGD:735504	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17634448|PMID:18325906|PMID:19168221|PMID:1976733|PMID:20664795|PMID:21576320|PMID:22718507|PMID:23112567|PMID:25741868|PMID:28492532|PMID:35685318|PMID:7870343
8719081	C3	complement C3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8719081	C3	complement C3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:735504	D	RGD:9068941	20200609	RGD			PMID:7561187|REF_RGD_ID:11040775
8719081	C3	complement C3	gene	DOID:8354	complement component 3 deficiency		ISO	RGD:735504	D	RGD:7240710	20260729	OMIM			
8719081	C3	complement C3	gene	DOID:8354	complement component 3 deficiency		ISO	RGD:735504	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: C3 DEFICIENCY | ClinVar Annotator: match by term: Complement component 3 deficiency	PMID:11139258|PMID:12462331|PMID:14639503|PMID:15781264|PMID:16158444|PMID:16499568|PMID:17634448|PMID:18201916|PMID:18325906|PMID:18802120|PMID:19168221|PMID:1976733|PMID:20047980|PMID:20664795|PMID:21501302|PMID:21576320|PMID:21676463|PMID:2212005|PMID:22718507|PMID:22996269|PMID:23112567|PMID:23963626|PMID:24315997|PMID:24321396|PMID:25712219|PMID:25741868|PMID:26435005|PMID:26559391|PMID:26613027|PMID:26826462|PMID:26847111|PMID:28492532|PMID:29113906|PMID:30131807|PMID:36299691|PMID:36622444|PMID:37367079|PMID:37369098|PMID:37466676|PMID:37685848|PMID:37794962|PMID:38344720|PMID:38741947|PMID:39114852|PMID:7870343|PMID:7923934
8719081	C3	complement C3	gene	DOID:8466	retinal degeneration		ISO	RGD:2232	D	RGD:9068941	20200609	RGD			PMID:21467172|REF_RGD_ID:7364947
8719081	C3	complement C3	gene	DOID:8466	retinal degeneration		ISO	RGD:2232	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina	PMID:21571681|REF_RGD_ID:7401257
8719081	C3	complement C3	gene	DOID:850	lung disease		ISO	RGD:10256	D	RGD:9068941	20200609	RGD		Acute Lung Injury	PMID:21421909|REF_RGD_ID:5129564
8719081	C3	complement C3	gene	DOID:8501	fundus dystrophy		ISO	RGD:735504	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:22594991|PMID:22673887|PMID:24036949|PMID:24036950|PMID:24036952|PMID:25741868|PMID:26767664|PMID:26830967|PMID:28011711|PMID:28492532|PMID:29410599|PMID:29888403|PMID:30131807|PMID:33873197|PMID:34748552
8719081	C3	complement C3	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
8719081	C3	complement C3	gene	DOID:8566	herpes simplex		ISO	RGD:10256	D	RGD:9068941	20200609	RGD			PMID:11509581|REF_RGD_ID:7401276
8719081	C3	complement C3	gene	DOID:8577	ulcerative colitis		ISO	RGD:735504	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35999755
8719081	C3	complement C3	gene	DOID:874	bacterial pneumonia		ISO	RGD:10256	D	RGD:9068941	20200609	RGD			PMID:16014897|REF_RGD_ID:5129508
8719081	C3	complement C3	gene	DOID:9000104	Glomerular Diseases		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glomerulopathy	PMID:25741868
8719081	C3	complement C3	gene	DOID:9000326	Thrombotic Microangiopathies	treatment	ISO	RGD:2232	D	RGD:9068941	20200609	RGD			PMID:11532096|REF_RGD_ID:5129554
8719081	C3	complement C3	gene	DOID:9000363	Hematuria		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		protein:increased expression:renal arteriole:	PMID:10955930|REF_RGD_ID:7183083
8719081	C3	complement C3	gene	DOID:9000438	Subarachnoid Hemorrhage	treatment	ISO	RGD:2232	D	RGD:9068941	20200609	RGD			PMID:26518242|REF_RGD_ID:11040780
8719081	C3	complement C3	gene	DOID:9000656	Penetrating Wounds	treatment	ISO	RGD:735504	D	RGD:9068941	20200609	RGD			PMID:22007700|REF_RGD_ID:11040781
8719081	C3	complement C3	gene	DOID:9000998	Brain Injuries		ISO	RGD:2232	D	RGD:9068941	20200609	RGD			PMID:23808389|REF_RGD_ID:10054313
8719081	C3	complement C3	gene	DOID:9001488	Human Influenza		ISO	RGD:10256	D	RGD:9068941	20200609	RGD			PMID:21408070|REF_RGD_ID:5129492
8719081	C3	complement C3	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:2232	D	RGD:9068941	20241128	RGD			PMID:26687560|REF_RGD_ID:408427361
8719081	C3	complement C3	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:10256	D	RGD:9068941	20200609	RGD			PMID:15972516|REF_RGD_ID:5129509
8719081	C3	complement C3	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:20405|REF_RGD_ID:5130163
8719081	C3	complement C3	gene	DOID:9002106	Pneumococcal Pneumonia	disease_progression	ISO	RGD:2232	D	RGD:9068941	20200609	RGD		associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion	PMID:17956621|REF_RGD_ID:5129523
8719081	C3	complement C3	gene	DOID:9002153	Chronic Allograft Dysfunction	treatment	ISO	RGD:2232	D	RGD:9068941	20200609	RGD			PMID:25122638|REF_RGD_ID:11040803
8719081	C3	complement C3	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:2232	D	RGD:9068941	20200609	RGD			PMID:19854450|REF_RGD_ID:11040888
8719081	C3	complement C3	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:10256	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1; protein:increased expression:kidney:	PMID:19200691|REF_RGD_ID:7183082
8719081	C3	complement C3	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2232	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:25662584|REF_RGD_ID:11040807
8719081	C3	complement C3	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2232	D	RGD:9068941	20200609	RGD		associated with Sciatic Neuropathy;mRNA, protein:increased expression:spinal cord	PMID:23588254|REF_RGD_ID:7401259
8719081	C3	complement C3	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:10256	D	RGD:9068941	20200609	RGD			PMID:20051658|REF_RGD_ID:7411688
8719081	C3	complement C3	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:2232	D	RGD:9068941	20200609	RGD			PMID:7347767|REF_RGD_ID:11041098
8719081	C3	complement C3	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:2232	D	RGD:9068941	20200609	RGD			PMID:17114852|REF_RGD_ID:5129540
8719081	C3	complement C3	gene	DOID:9002722	Gastric Adenocarcinoma and Proximal Polyposis of the Stomach		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyposis of gastric fundus without polyposis coli	PMID:25741868
8719081	C3	complement C3	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:2232	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:22320401|REF_RGD_ID:7175513
8719081	C3	complement C3	gene	DOID:9002834	Herpesviridae Infections		ISO	RGD:10256	D	RGD:9068941	20200609	RGD			PMID:12196286|REF_RGD_ID:5129514
8719081	C3	complement C3	gene	DOID:9003565	Paratuberculosis		ISO	RGD:735504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22633222
8719081	C3	complement C3	gene	DOID:9003603	Hemolysis		ISO	RGD:2232	D	RGD:9068941	20260730	RGD			PMID:31196848|REF_RGD_ID:736802349
8719081	C3	complement C3	gene	DOID:9003690	Carcinoma, Lewis Lung	treatment	ISO	RGD:10256	D	RGD:9068941	20200609	RGD			PMID:16947020|REF_RGD_ID:7401280
8719081	C3	complement C3	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2232	D	RGD:9068941	20200609	RGD		protein:increased expression:intestine	PMID:17981193|REF_RGD_ID:5129536
8719081	C3	complement C3	gene	DOID:9004484	Sepsis		ISO	RGD:10256	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:24154627|REF_RGD_ID:11040886
8719081	C3	complement C3	gene	DOID:9004484	Sepsis		ISO	RGD:2232	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:3339873|REF_RGD_ID:7411622
8719081	C3	complement C3	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:2232	D	RGD:9068941	20200609	RGD			PMID:22763771|REF_RGD_ID:11040808
8719081	C3	complement C3	gene	DOID:9005020	Brain Contusion	ameliorates	ISO	RGD:2232	D	RGD:9068941	20241116	RGD			PMID:31654641|REF_RGD_ID:408418727
8719081	C3	complement C3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8719081	C3	complement C3	gene	DOID:9005036	Bacteremia		ISO	RGD:2232	D	RGD:9068941	20241114	RGD		associated with Experimental Liver Cirrhosis; protein:decreased expression:serum	PMID:11349015|REF_RGD_ID:408395143
8719081	C3	complement C3	gene	DOID:9005941	Rhinosinusitis		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19593977|REF_RGD_ID:4889484
8719081	C3	complement C3	gene	DOID:9005969	Refractory Anemia with Excess of Blasts	disease_progression	ISO	RGD:735504	D	RGD:9068941	20200609	RGD			PMID:9741227|REF_RGD_ID:11041158
8719081	C3	complement C3	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:2232	D	RGD:9068941	20260409	RGD		protein:increased expression:glomeruli, renal tubules, peri- tubule	PMID:41189475|REF_RGD_ID:629006634
8719081	C3	complement C3	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:2232	D	RGD:9068941	20200609	RGD			PMID:19691975|REF_RGD_ID:7411689
8719081	C3	complement C3	gene	DOID:9006642	Experimental Autoimmune Uveoretinitis		ISO	RGD:10256	D	RGD:9068941	20200609	RGD			PMID:16143328|REF_RGD_ID:7401262
8719081	C3	complement C3	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:735504	D	RGD:9068941	20200609	RGD			PMID:16488421|REF_RGD_ID:2314030
8719081	C3	complement C3	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:735504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
8719081	C3	complement C3	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:10256	D	RGD:9068941	20200609	RGD			PMID:12235218|REF_RGD_ID:5129513
8719081	C3	complement C3	gene	DOID:9006928	Viral Bronchiolitis	resistance	ISO	RGD:735504	D	RGD:9068941	20200609	RGD			PMID:19258923|REF_RGD_ID:4142862
8719081	C3	complement C3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8719081	C3	complement C3	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:735504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16099942
8719081	C3	complement C3	gene	DOID:9007692	Insulin Resistance		ISO	RGD:735504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18615583
8719081	C3	complement C3	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2232	D	RGD:9068941	20200609	RGD		protein:increased expression:myocardium	PMID:11560858|REF_RGD_ID:1582136
8719081	C3	complement C3	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:2232	D	RGD:9068941	20200609	RGD		mRNA:increased expression:optic nerve	PMID:14577867|REF_RGD_ID:5129542
8719081	C3	complement C3	gene	DOID:9008261	Chemically-Induced Disorders		ISO	RGD:735504	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35999755
8719081	C3	complement C3	gene	DOID:9008286	Experimental Autoimmune Myasthenia Gravis		ISO	RGD:10256	D	RGD:9068941	20200609	RGD			PMID:17962462|REF_RGD_ID:7401263
8719081	C3	complement C3	gene	DOID:9008286	Experimental Autoimmune Myasthenia Gravis		ISO	RGD:2232	D	RGD:9068941	20200609	RGD			PMID:147324|REF_RGD_ID:11040804
8719081	C3	complement C3	gene	DOID:9008366	Meningococcal Infections	severity	ISO	RGD:735504	D	RGD:9068941	20200609	RGD			PMID:3491693|REF_RGD_ID:11041157
8719081	C3	complement C3	gene	DOID:9008604	Radiation Pneumonitis		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		Protein: increased expression: plasma	PMID:20510197|REF_RGD_ID:5129484
8719081	C3	complement C3	gene	DOID:9008821	Otitis Media with Effusion	disease_progression	ISO	RGD:735504	D	RGD:9068941	20200609	RGD			PMID:11037838|REF_RGD_ID:7401253
8719081	C3	complement C3	gene	DOID:9008867	C3 Glomerulopathy 3		ISO	RGD:735504	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: C3 glomerulonephritis	PMID:14639503|PMID:16499568|PMID:17634448|PMID:18325906|PMID:19168221|PMID:1976733|PMID:20664795|PMID:20852386|PMID:21576320|PMID:21784901|PMID:22718507|PMID:23112567|PMID:25741868|PMID:26283675|PMID:26471127|PMID:26559391|PMID:26895476|PMID:27146825|PMID:27784126|PMID:28492532|PMID:28712854|PMID:29113906|PMID:29566171|PMID:29670616|PMID:30077216|PMID:34456924|PMID:36165144|PMID:36622444|PMID:37367079|PMID:37369098|PMID:37466676|PMID:37615951|PMID:37744338|PMID:38041748|PMID:38344720|PMID:38606352|PMID:38741947|PMID:38765603|PMID:39081762|PMID:7870343
8719081	C3	complement C3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8719081	C3	complement C3	gene	DOID:9065	leishmaniasis		ISO	RGD:10256	D	RGD:9068941	20200609	RGD			PMID:15378355|REF_RGD_ID:7401274
8719081	C3	complement C3	gene	DOID:9074	systemic lupus erythematosus	severity	ISO	RGD:735504	D	RGD:9068941	20200609	RGD		protein:increased processing	PMID:7510492|REF_RGD_ID:11040772
8719081	C3	complement C3	gene	DOID:9182	pemphigus		ISO	RGD:735504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:74171
8719081	C3	complement C3	gene	DOID:9282	ocular hypertension		ISO	RGD:2232	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:retina	PMID:16677633|REF_RGD_ID:1599509
8719081	C3	complement C3	gene	DOID:9282	ocular hypertension		ISO	RGD:735504	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:retina	PMID:16677633|REF_RGD_ID:1599509
8719081	C3	complement C3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20504758
8719081	C3	complement C3	gene	DOID:9408	acute myocardial infarction		ISO	RGD:735504	D	RGD:9068941	20200609	RGD			PMID:26476955|REF_RGD_ID:11552746
8719081	C3	complement C3	gene	DOID:9498	pulmonary eosinophilia		ISO	RGD:10256	D	RGD:9068941	20200609	RGD			PMID:23549917|REF_RGD_ID:7401272
8719081	C3	complement C3	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:735504	D	RGD:9068941	20200609	RGD			PMID:3253105|REF_RGD_ID:2314031
8719081	C3	complement C3	gene	DOID:9970	obesity	treatment	ISO	RGD:2232	D	RGD:9068941	20200609	RGD			PMID:23118029|REF_RGD_ID:7411625
8719146	Map4	microtubule associated protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8719146	Map4	microtubule associated protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8719146	Map4	microtubule associated protein 4	gene	DOID:0060165	Kleine-Levin syndrome		ISO	RGD:1343248	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Kleine-Levin syndrome	
8719146	Map4	microtubule associated protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8719146	Map4	microtubule associated protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8719146	Map4	microtubule associated protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8719146	Map4	microtubule associated protein 4	gene	DOID:1909	melanoma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8719146	Map4	microtubule associated protein 4	gene	DOID:3070	high grade glioma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8719146	Map4	microtubule associated protein 4	gene	DOID:3275	thymoma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8719146	Map4	microtubule associated protein 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8719146	Map4	microtubule associated protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8719146	Map4	microtubule associated protein 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8719146	Map4	microtubule associated protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1343248	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8719146	Map4	microtubule associated protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8719146	Map4	microtubule associated protein 4	gene	DOID:9004657	Weight Gain		ISO	RGD:1343248	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8719146	Map4	microtubule associated protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719146	Map4	microtubule associated protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8719146	Map4	microtubule associated protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8719190	Lacc1	laccase domain multifunctional purine nucleosidase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8719190	Lacc1	laccase domain multifunctional purine nucleosidase 1	gene	DOID:1024	leprosy		ISO	RGD:1602651	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Leprosy, susceptibility to, 1	
8719190	Lacc1	laccase domain multifunctional purine nucleosidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602651	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8719190	Lacc1	laccase domain multifunctional purine nucleosidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8719190	Lacc1	laccase domain multifunctional purine nucleosidase 1	gene	DOID:1909	melanoma		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
8719190	Lacc1	laccase domain multifunctional purine nucleosidase 1	gene	DOID:3275	thymoma		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8719190	Lacc1	laccase domain multifunctional purine nucleosidase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8719190	Lacc1	laccase domain multifunctional purine nucleosidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
8719190	Lacc1	laccase domain multifunctional purine nucleosidase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
8719190	Lacc1	laccase domain multifunctional purine nucleosidase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602651	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8719190	Lacc1	laccase domain multifunctional purine nucleosidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8719190	Lacc1	laccase domain multifunctional purine nucleosidase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868
8719190	Lacc1	laccase domain multifunctional purine nucleosidase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8719190	Lacc1	laccase domain multifunctional purine nucleosidase 1	gene	DOID:630	genetic disease		ISO	RGD:1602651	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8719190	Lacc1	laccase domain multifunctional purine nucleosidase 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1602651	D	RGD:7240710	20200318	OMIM			
8719190	Lacc1	laccase domain multifunctional purine nucleosidase 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1602651	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: JUVENILE ARTHRITIS	PMID:25741868
8719190	Lacc1	laccase domain multifunctional purine nucleosidase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719190	Lacc1	laccase domain multifunctional purine nucleosidase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
8719200	Inpp4b	inositol polyphosphate-4-phosphatase type II B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8719200	Inpp4b	inositol polyphosphate-4-phosphatase type II B	gene	DOID:10534	stomach cancer		ISO	RGD:734292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8719200	Inpp4b	inositol polyphosphate-4-phosphatase type II B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734292	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29415082
8719200	Inpp4b	inositol polyphosphate-4-phosphatase type II B	gene	DOID:1324	lung cancer		ISO	RGD:734292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8719200	Inpp4b	inositol polyphosphate-4-phosphatase type II B	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:734292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
8719200	Inpp4b	inositol polyphosphate-4-phosphatase type II B	gene	DOID:1793	pancreatic cancer		ISO	RGD:734292	D	RGD:9068941	20240208	CTD		CTD Direct Evidence: marker/mechanism	PMID:29415082
8719200	Inpp4b	inositol polyphosphate-4-phosphatase type II B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:734292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8719200	Inpp4b	inositol polyphosphate-4-phosphatase type II B	gene	DOID:4450	renal cell carcinoma		ISO	RGD:734292	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29415082
8719200	Inpp4b	inositol polyphosphate-4-phosphatase type II B	gene	DOID:5041	esophageal cancer		ISO	RGD:734292	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8719200	Inpp4b	inositol polyphosphate-4-phosphatase type II B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719200	Inpp4b	inositol polyphosphate-4-phosphatase type II B	gene	DOID:6039	uveal melanoma		ISO	RGD:734292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8719200	Inpp4b	inositol polyphosphate-4-phosphatase type II B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8719200	Inpp4b	inositol polyphosphate-4-phosphatase type II B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8719200	Inpp4b	inositol polyphosphate-4-phosphatase type II B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719200	Inpp4b	inositol polyphosphate-4-phosphatase type II B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8719200	Inpp4b	inositol polyphosphate-4-phosphatase type II B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734292	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29415082
8719200	Inpp4b	inositol polyphosphate-4-phosphatase type II B	gene	DOID:9256	colorectal cancer		ISO	RGD:734292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8719237	Paaf1	proteasomal ATPase associated factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8719237	Paaf1	proteasomal ATPase associated factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8719237	Paaf1	proteasomal ATPase associated factor 1	gene	DOID:1909	melanoma		ISO	RGD:1602098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8719237	Paaf1	proteasomal ATPase associated factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8719237	Paaf1	proteasomal ATPase associated factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719237	Paaf1	proteasomal ATPase associated factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719237	Paaf1	proteasomal ATPase associated factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8719271	Ngef	neuronal guanine nucleotide exchange factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8719271	Ngef	neuronal guanine nucleotide exchange factor	gene	DOID:1115	sarcoma		ISO	RGD:1319181	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8719271	Ngef	neuronal guanine nucleotide exchange factor	gene	DOID:1324	lung cancer		ISO	RGD:1319181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8719271	Ngef	neuronal guanine nucleotide exchange factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8719271	Ngef	neuronal guanine nucleotide exchange factor	gene	DOID:3275	thymoma		ISO	RGD:1319181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8719271	Ngef	neuronal guanine nucleotide exchange factor	gene	DOID:4362	cervical cancer		ISO	RGD:1319181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8719271	Ngef	neuronal guanine nucleotide exchange factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1319181	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8719271	Ngef	neuronal guanine nucleotide exchange factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719271	Ngef	neuronal guanine nucleotide exchange factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319181	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8719271	Ngef	neuronal guanine nucleotide exchange factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8719296	Unc45b	unc-45 myosin chaperone B	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1313830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:12356907|PMID:17189627|PMID:17586488|PMID:19348700|PMID:19504455|PMID:19834024|PMID:19854944|PMID:24549050|PMID:25348405|PMID:28492532|PMID:2981587
8719296	Unc45b	unc-45 myosin chaperone B	gene	DOID:0081338	myofibrillar myopathy 11		ISO	RGD:1313830	D	RGD:7240710	20210303	OMIM			
8719296	Unc45b	unc-45 myosin chaperone B	gene	DOID:0081338	myofibrillar myopathy 11		ISO	RGD:1313830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MYOFIBRILLAR MYOPATHY 11 | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH ECCENTRIC CORES | ClinVar Annotator: match by term: Myofibrillar myopathy 11	PMID:25741868|PMID:33217308
8719296	Unc45b	unc-45 myosin chaperone B	gene	DOID:0110259	cataract 43		ISO	RGD:1313830	D	RGD:7240710	20180130	OMIM			
8719296	Unc45b	unc-45 myosin chaperone B	gene	DOID:0110259	cataract 43		ISO	RGD:1313830	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cataract 43 | ClinVar Annotator: match by term: UNC45B-related condition	PMID:25741868|PMID:28492532|PMID:31852522|PMID:33217308
8719296	Unc45b	unc-45 myosin chaperone B	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1313830	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	
8719296	Unc45b	unc-45 myosin chaperone B	gene	DOID:10534	stomach cancer		ISO	RGD:1313830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8719296	Unc45b	unc-45 myosin chaperone B	gene	DOID:114	heart disease		ISO	RGD:1313830	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:17189627
8719296	Unc45b	unc-45 myosin chaperone B	gene	DOID:4362	cervical cancer		ISO	RGD:1313830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8719296	Unc45b	unc-45 myosin chaperone B	gene	DOID:5041	esophageal cancer		ISO	RGD:1313830	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8719296	Unc45b	unc-45 myosin chaperone B	gene	DOID:630	genetic disease		ISO	RGD:1313830	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12356907|PMID:17189627|PMID:17586488|PMID:19348700|PMID:19504455|PMID:19834024|PMID:19854944|PMID:24549050|PMID:25348405|PMID:25741868|PMID:28492532|PMID:2981587
8719296	Unc45b	unc-45 myosin chaperone B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8719296	Unc45b	unc-45 myosin chaperone B	gene	DOID:9005246	Paralysis		ISO	RGD:1313830	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:17189627
8719296	Unc45b	unc-45 myosin chaperone B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:12356907|PMID:17189627|PMID:17586488|PMID:19348700|PMID:19504455|PMID:19834024|PMID:19854944|PMID:24549050|PMID:25348405|PMID:28492532|PMID:2981587
8719296	Unc45b	unc-45 myosin chaperone B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719296	Unc45b	unc-45 myosin chaperone B	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1313830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:12356907|PMID:17189627|PMID:17586488|PMID:19348700|PMID:19504455|PMID:19834024|PMID:19854944|PMID:24549050|PMID:25348405|PMID:28492532|PMID:2981587
8719296	Unc45b	unc-45 myosin chaperone B	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1313830	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:17189627
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:0050988	GRID2-related spinocerebellar ataxia		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GRID2-related condition	PMID:25741868|PMID:28492532|PMID:32483926|PMID:37944084
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:0080042	autosomal recessive spinocerebellar ataxia 18		ISO	RGD:68527	D	RGD:7240710	20180130	OMIM			
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:0080042	autosomal recessive spinocerebellar ataxia 18		ISO	RGD:68527	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 18 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18	PMID:23611888|PMID:25741868|PMID:27980096|PMID:28492532|PMID:29207948|PMID:31429931|PMID:32483926|PMID:37944084
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:0080855	Parkinsonism		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:25741868
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:10907	microcephaly		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:32483926|PMID:37944084
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:1826	epilepsy		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:3275	thymoma		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:5419	schizophrenia		ISO	RGD:68527	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:630	genetic disease		ISO	RGD:68527	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10725919|PMID:15970596|PMID:28492532|PMID:9285588
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:630	genetic disease		ISO	RGD:68527	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10725919|PMID:15970596|PMID:25741868|PMID:25841024|PMID:28492532|PMID:9285588
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:68527	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:9003286	Diplopia		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diplopia	PMID:25741868
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:32483926|PMID:37944084
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic gait	PMID:25741868|PMID:28492532|PMID:32483926|PMID:37944084
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719343	Grid2	glutamate ionotropic receptor delta type subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8719373	Tbx21	T-box transcription factor 21	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8719373	Tbx21	T-box transcription factor 21	gene	DOID:0061058	immunodeficiency 88	susceptibility	ISO	RGD:1317938	D	RGD:7240710	20260729	OMIM			
8719373	Tbx21	T-box transcription factor 21	gene	DOID:0080815	childhood-onset asthma	severity	ISO	RGD:1317938	D	RGD:9068941	20250918	RGD		DNA:SNP,haplotype:rs4794067	PMID:25056814|REF_RGD_ID:626469564
8719373	Tbx21	T-box transcription factor 21	gene	DOID:0080815	childhood-onset asthma	susceptibility	ISO	RGD:1317938	D	RGD:9068941	20250918	RGD		DNA:SNPs:promoter,cds:-1514T>C,9902C>T,G2844A	PMID:19362357|REF_RGD_ID:626469546
8719373	Tbx21	T-box transcription factor 21	gene	DOID:0080815	childhood-onset asthma	susceptibility	ISO	RGD:1323685	D	RGD:9068941	20250918	RGD		DNA:SNPs:promoter,cds:-1514T>C,9902C>T,A4704T	PMID:19362357|REF_RGD_ID:626469546
8719373	Tbx21	T-box transcription factor 21	gene	DOID:0080815	childhood-onset asthma	treatment	ISO	RGD:1317938	D	RGD:9068941	20250918	RGD		DNA:SNP:cds:p.H33Q	PMID:15604153|REF_RGD_ID:626469551
8719373	Tbx21	T-box transcription factor 21	gene	DOID:0080822	aspirin-induced respiratory disease		ISO	RGD:1317938	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO	PMID:25741868
8719373	Tbx21	T-box transcription factor 21	gene	DOID:0080822	aspirin-induced respiratory disease	susceptibility	ISO	RGD:1317938	D	RGD:9068941	20250911	RGD		DNA:polymorphism:promoter: :-1993T>C	PMID:15806396|REF_RGD_ID:626469542
8719373	Tbx21	T-box transcription factor 21	gene	DOID:0111579	asthma, nasal polyps, and aspirin intolerance		ISO	RGD:1317938	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance	PMID:25741868
8719373	Tbx21	T-box transcription factor 21	gene	DOID:0111579	asthma, nasal polyps, and aspirin intolerance	susceptibility	ISO	RGD:1317938	D	RGD:7240710	20260729	OMIM			
8719373	Tbx21	T-box transcription factor 21	gene	DOID:12365	malaria		ISO	RGD:1317938	D	RGD:9068941	20200807	RGD			PMID:19338000|REF_RGD_ID:38455985
8719373	Tbx21	T-box transcription factor 21	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1317938	D	RGD:9068941	20250918	RGD		protein:increased expression:heart	PMID:29564567|REF_RGD_ID:626469805
8719373	Tbx21	T-box transcription factor 21	gene	DOID:13141	uveitis		ISO	RGD:1308264	D	RGD:9068941	20250918	RGD		mRNA,protein:increased expression:iris,spleen	PMID:16896914|REF_RGD_ID:628359014
8719373	Tbx21	T-box transcription factor 21	gene	DOID:2518	orchitis	disease_progression	ISO	RGD:1308264	D	RGD:9068941	20250920	RGD			PMID:21109610|REF_RGD_ID:628359026
8719373	Tbx21	T-box transcription factor 21	gene	DOID:2841	asthma		ISO	RGD:1308264	D	RGD:9068941	20250918	RGD			PMID:16626511|REF_RGD_ID:626469806
8719373	Tbx21	T-box transcription factor 21	gene	DOID:2841	asthma		ISO	RGD:1317938	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15806396
8719373	Tbx21	T-box transcription factor 21	gene	DOID:2841	asthma		ISO	RGD:1317939	D	RGD:9068941	20220825	MouseDO		OMIM:600807	
8719373	Tbx21	T-box transcription factor 21	gene	DOID:2841	asthma	no_association	ISO	RGD:1317938	D	RGD:9068941	20250911	RGD		DNA:polymorphism: :	PMID:12938094|REF_RGD_ID:626469543
8719373	Tbx21	T-box transcription factor 21	gene	DOID:2841	asthma	treatment	ISO	RGD:1308264	D	RGD:9068941	20250918	RGD		DNA:SNP: :rs9910408	PMID:24107858|REF_RGD_ID:626469573
8719373	Tbx21	T-box transcription factor 21	gene	DOID:2841	asthma	treatment	ISO	RGD:1308264	D	RGD:9068941	20250925	RGD			PMID:16635408|PMID:18186587|REF_RGD_ID:5128803|REF_RGD_ID:628359045
8719373	Tbx21	T-box transcription factor 21	gene	DOID:2841	asthma	treatment	ISO	RGD:1317938	D	RGD:9068941	20250918	RGD		DNA:SNP:cds:p.H33Q (C>G)	PMID:20175803|REF_RGD_ID:5147640
8719373	Tbx21	T-box transcription factor 21	gene	DOID:7188	autoimmune thyroiditis	treatment	ISO	RGD:1308264	D	RGD:9068941	20250920	RGD			PMID:26523790|REF_RGD_ID:628359025
8719373	Tbx21	T-box transcription factor 21	gene	DOID:783	end stage renal disease		ISO	RGD:1317938	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26970513
8719373	Tbx21	T-box transcription factor 21	gene	DOID:823	periapical periodontitis	severity	ISO	RGD:1308264	D	RGD:9068941	20250925	RGD			PMID:34916766|REF_RGD_ID:628359044
8719373	Tbx21	T-box transcription factor 21	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:1308264	D	RGD:9068941	20250925	RGD			PMID:22800566|REF_RGD_ID:8547936
8719373	Tbx21	T-box transcription factor 21	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1308264	D	RGD:9068941	20260110	RGD		mRNA,protein:increased expression:heart	PMID:29564567|REF_RGD_ID:626469805
8719373	Tbx21	T-box transcription factor 21	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:1308264	D	RGD:9068941	20250925	RGD			PMID:25218666|REF_RGD_ID:628359046
8719373	Tbx21	T-box transcription factor 21	gene	DOID:9004484	Sepsis	severity	ISO	RGD:1317938	D	RGD:9068941	20200806	RGD			PMID:25403265|REF_RGD_ID:38455982
8719373	Tbx21	T-box transcription factor 21	gene	DOID:9005005	Oral Ulcer	treatment	ISO	RGD:1308264	D	RGD:9068941	20250925	RGD			PMID:37890261|REF_RGD_ID:628359047
8719373	Tbx21	T-box transcription factor 21	gene	DOID:9005372	Inflammation		ISO	RGD:1317938	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22325453
8719373	Tbx21	T-box transcription factor 21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719373	Tbx21	T-box transcription factor 21	gene	DOID:9415	allergic asthma	susceptibility	ISO	RGD:1317938	D	RGD:9068941	20250918	RGD		DNA:SNPs: :rs11650354,rs16947078	PMID:17949803|REF_RGD_ID:626469549
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:0050152	aspiration pneumonia		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aspiration pneumonia	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:0060046	aphasia		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aphasia	PMID:25741868
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:0060801	MEHMO syndrome		ISO	RGD:1346365	D	RGD:7240710	20190315	OMIM			
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:0060801	MEHMO syndrome		ISO	RGD:1346365	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EIF2S3-related condition | ClinVar Annotator: match by term: MEHMO SYNDROME | ClinVar Annotator: match by term: MEHMO syndrome | ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Borck type	PMID:25741868|PMID:25741869
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:0080833	laryngomalacia		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:1059	intellectual disability		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:10907	microcephaly		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:1115	sarcoma		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:11162	respiratory failure		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Duane retraction syndrome	PMID:25741868
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:12698	gynecomastia		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gynecomastia	PMID:25741868
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:1324	lung cancer		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:1588	thrombocytopenia		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:1826	epilepsy		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:1924	hypogonadism		ISO	RGD:1346365	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:2452	thrombophilia		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombophilia	PMID:25741868
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:3070	high grade glioma		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:540	strabismus		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:552	pneumonia		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:25741868
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:630	genetic disease		ISO	RGD:1346365	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:784	chronic kidney disease		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9001581	Constipation		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9406	hypopituitarism		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypopituitarism	PMID:25741868
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9452	steatotic liver disease		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9477	pulmonary embolism		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary embolism	PMID:25741868
8719387	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9840	esotropia		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
8719403	Adtrp	androgen dependent TFPI regulating protein	gene	DOID:10534	stomach cancer		ISO	RGD:1313849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8719403	Adtrp	androgen dependent TFPI regulating protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8719403	Adtrp	androgen dependent TFPI regulating protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8719403	Adtrp	androgen dependent TFPI regulating protein	gene	DOID:3275	thymoma		ISO	RGD:1313849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8719403	Adtrp	androgen dependent TFPI regulating protein	gene	DOID:3393	coronary artery disease		ISO	RGD:1313849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378986
8719403	Adtrp	androgen dependent TFPI regulating protein	gene	DOID:4362	cervical cancer		ISO	RGD:1313849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8719403	Adtrp	androgen dependent TFPI regulating protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8719403	Adtrp	androgen dependent TFPI regulating protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1313849	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8719403	Adtrp	androgen dependent TFPI regulating protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:0050741	alcohol dependence	treatment	ISO	RGD:3704	D	RGD:9068941	20250501	RGD			PMID:21422004|REF_RGD_ID:598154603
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:737272	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:0050851	glomerulosclerosis		ISO	RGD:11305	D	RGD:9068941	20200609	RGD			PMID:19918242|REF_RGD_ID:12879501
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20526721
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:0060260	ptosis		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:21832227|PMID:25741868|PMID:26193382|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:0060326	myelomeningocele		ISO	RGD:737272	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype: :rs710218, rs2229682 (human)	PMID:23427181|REF_RGD_ID:12879498
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:0060326	myelomeningocele		ISO	RGD:737272	D	RGD:9068941	20200609	RGD		DNA:deletion:intron:rs35565219 (human)	PMID:21135204|REF_RGD_ID:11070819
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:0060405	chromosome 17q23.1-q23.2 deletion syndrome		ISO	RGD:737272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chromosome 17q23.1-q23.2 deletion syndrome	PMID:12325075|PMID:17052934|PMID:17718830|PMID:18577546|PMID:19798636|PMID:21546317|PMID:25741868|PMID:26193382|PMID:27725288|PMID:28492532|PMID:30588498|PMID:31352161|PMID:36842888
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:0060737	junctional epidermolysis bullosa Herlitz type		ISO	RGD:737272	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa	PMID:20129935|PMID:25564316|PMID:25741868|PMID:25982116|PMID:26537434|PMID:26598494|PMID:28116237|PMID:28492532|PMID:29655203|PMID:34135856
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:0070309	absence epilepsy		ISO	RGD:737272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:19630075|PMID:23280796|PMID:25564316|PMID:25741868|PMID:26598494|PMID:28492532|PMID:28717674
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:0070560	glucose transporter type 1 deficiency syndrome		ISO	RGD:737272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GLUT1 deficiency syndrome | ClinVar Annotator: match by term: Glucose transporter protein syndrome | ClinVar Annotator: match by term: Glucose transporter type 1 deficiency syndrome	PMID:10980529|PMID:12325075|PMID:15622525|PMID:16199547|PMID:16217704|PMID:17576681|PMID:17718830|PMID:18387950|PMID:18403583|PMID:18414213|PMID:18451999|PMID:18577546|PMID:18606970|PMID:19237265|PMID:19630075|PMID:19798636|PMID:19996082|PMID:20129935|PMID:20301603|PMID:20574033|PMID:20621801|PMID:21530357|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22011817|PMID:22190371|PMID:22282645|PMID:22622956|PMID:22704013|PMID:22976442|PMID:23106342|PMID:23280796|PMID:23306390|PMID:23340081|PMID:2344855|PMID:23448551|PMID:24847886|PMID:25099510|PMID:25108116|PMID:25167861|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26267703|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26615598|PMID:26982753|PMID:27250207|PMID:28018440|PMID:28116237|PMID:28135719|PMID:28419980|PMID:28492532|PMID:28556183|PMID:28961260|PMID:29356177|PMID:29655203|PMID:30076047|PMID:30197081|PMID:30198221|PMID:30271476|PMID:30588498|PMID:30714351|PMID:30895386|PMID:31069529|PMID:31196579|PMID:31273778|PMID:31302675|PMID:31737037|PMID:32404902|PMID:32802945|PMID:34135856|PMID:34279792|PMID:36088537|PMID:36153584|PMID:36362347|PMID:36403551|PMID:37293674|PMID:37335529|PMID:38041506|PMID:38914025|PMID:39092009|PMID:40243517|PMID:8027028|PMID:9335548|PMID:9374494|PMID:9536098
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:0070561	glucose transporter type 1 deficiency syndrome 1		ISO	RGD:737272	D	RGD:7240710	20260722	OMIM			
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:0070561	glucose transporter type 1 deficiency syndrome 1		ISO	RGD:737272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: De Vivo disease | ClinVar Annotator: match by term: Encephalopathy due to GLUT1 deficiency | ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME 1 | ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1 | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive	PMID:10196171|PMID:10980529|PMID:11076005|PMID:11425315|PMID:11477212|PMID:11603379|PMID:12325075|PMID:15622525|PMID:16172126|PMID:16199547|PMID:16217704|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18387950|PMID:18403583|PMID:18414213|PMID:18451999|PMID:18577546|PMID:19237265|PMID:19304421|PMID:19630075|PMID:19798636|PMID:19996082|PMID:20129935|PMID:20221955|PMID:20574033|PMID:20621801|PMID:20687207|PMID:20830593|PMID:21069159|PMID:21204808|PMID:21530357|PMID:21546317|PMID:21555602|PMID:21649651|PMID:21832227|PMID:21865127|PMID:21937992|PMID:22011817|PMID:22190371|PMID:22282645|PMID:22622956|PMID:22704013|PMID:22814174|PMID:22976442|PMID:23020937|PMID:23106342|PMID:23280796|PMID:23306390|PMID:23340081|PMID:2344855|PMID:23448551|PMID:23801573|PMID:24080273|PMID:24215330|PMID:24487825|PMID:24824604|PMID:24847886|PMID:25022942|PMID:25099510|PMID:25108116|PMID:25167861|PMID:25381171|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26267703|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26615598|PMID:26982753|PMID:27098784|PMID:27250207|PMID:27351150|PMID:27725288|PMID:27927575|PMID:28018440|PMID:28042592|PMID:28074849|PMID:28116237|PMID:28135719|PMID:28378819|PMID:28419980|PMID:28443597|PMID:28492532|PMID:28554332|PMID:28556183|PMID:28717674|PMID:28961260|PMID:29223885|PMID:29356177|PMID:29530121|PMID:29655203|PMID:29778030|PMID:30115503|PMID:30197081|PMID:30198221|PMID:30271476|PMID:30588498|PMID:30616884|PMID:30714351|PMID:30895386|PMID:31069529|PMID:31196579|PMID:31273778|PMID:31302675|PMID:31352161|PMID:31487502|PMID:31690835|PMID:31737037|PMID:32005694|PMID:32134591|PMID:32404902|PMID:32753446|PMID:32802945|PMID:32901917|PMID:33258288|PMID:33860439|PMID:34135856|PMID:34279792|PMID:34305802|PMID:34541019|PMID:34568804|PMID:34880899|PMID:35388452|PMID:36088537|PMID:36153584|PMID:36303089|PMID:36362347|PMID:36403551|PMID:36618999|PMID:36842888|PMID:36965413|PMID:37293674|PMID:37335529|PMID:38041506|PMID:38458754|PMID:38914025|PMID:39092009|PMID:40243517|PMID:8027028|PMID:9335548|PMID:9374494|PMID:9536098
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:0080918	polymicrogyria		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:0090044	dystonia 9		ISO	RGD:737272	D	RGD:7240710	20260722	OMIM			
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:0090044	dystonia 9		ISO	RGD:737272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY | ClinVar Annotator: match by term: Dystonia 9	PMID:12325075|PMID:15622525|PMID:16217704|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18414213|PMID:18577546|PMID:19798636|PMID:20129935|PMID:21546317|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22011817|PMID:22622956|PMID:22704013|PMID:22976442|PMID:23280796|PMID:23306390|PMID:23340081|PMID:25108116|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26982753|PMID:27725288|PMID:28018440|PMID:28116237|PMID:28419980|PMID:28492532|PMID:28961260|PMID:29655203|PMID:30588498|PMID:30714351|PMID:30895386|PMID:31069529|PMID:31196579|PMID:31352161|PMID:31737037|PMID:32404902|PMID:32901917|PMID:34135856|PMID:34279792|PMID:36088537|PMID:36153584|PMID:36362347|PMID:36842888|PMID:37293674|PMID:37335529|PMID:38041506|PMID:9335548|PMID:9536098
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:0090045	glucose transporter type 1 deficiency syndrome 2		ISO	RGD:737272	D	RGD:7240710	20260722	OMIM			
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:0090045	glucose transporter type 1 deficiency syndrome 2		ISO	RGD:737272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Childhood onset GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME 2 | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA | ClinVar Annotator: match by term: Paroxysmal exercise-induced dystonia	PMID:10227690|PMID:10980529|PMID:11477212|PMID:11603379|PMID:12325075|PMID:15622525|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18387950|PMID:18403583|PMID:18414213|PMID:18451999|PMID:18577546|PMID:19630075|PMID:19798636|PMID:19996082|PMID:20129935|PMID:20621801|PMID:20687207|PMID:21069159|PMID:21530357|PMID:21546317|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22011817|PMID:22190371|PMID:22976442|PMID:23106342|PMID:23280796|PMID:23306390|PMID:23340081|PMID:2344855|PMID:23448551|PMID:24487825|PMID:24847886|PMID:24892788|PMID:25022942|PMID:25108116|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25758715|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26467025|PMID:26537434|PMID:26598494|PMID:27250207|PMID:27725288|PMID:28018440|PMID:28042592|PMID:28116237|PMID:28407523|PMID:28419980|PMID:28492532|PMID:28961260|PMID:28971506|PMID:29223885|PMID:29530121|PMID:29655203|PMID:30271476|PMID:30588498|PMID:30714351|PMID:30895386|PMID:31069529|PMID:31196579|PMID:31302675|PMID:31352161|PMID:31605543|PMID:31737037|PMID:32005694|PMID:32404902|PMID:32753446|PMID:34135856|PMID:34305802|PMID:34541019|PMID:34880899|PMID:36088537|PMID:36153584|PMID:36303089|PMID:36362347|PMID:36403551|PMID:36618999|PMID:36842888|PMID:37293674|PMID:38041506|PMID:38914025|PMID:39092009|PMID:40243517|PMID:8027028|PMID:9374494|PMID:9462754|PMID:9536098
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:0110734	neurodegeneration with brain iron accumulation		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iron accumulation in brain	PMID:25741868
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:737272	D	RGD:9068941	20200609	RGD			PMID:10975929|REF_RGD_ID:12879497
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:1059	intellectual disability		ISO	RGD:737272	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:18606970|PMID:19630075|PMID:20301603|PMID:25167861|PMID:25564316|PMID:25741868|PMID:26598494|PMID:28492532|PMID:32581362
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:1059	intellectual disability		ISO	RGD:737272	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities	PMID:10980529|PMID:18606970|PMID:19630075|PMID:20129935|PMID:20301603|PMID:25167861|PMID:25326635|PMID:25564316|PMID:25741868|PMID:26216499|PMID:26598494|PMID:28492532|PMID:32581362
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:1059	intellectual disability		ISO	RGD:737272	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency	PMID:10980529|PMID:16385454|PMID:18606970|PMID:19630075|PMID:20301500|PMID:20301603|PMID:25167861|PMID:25326635|PMID:25741868|PMID:28492532|PMID:32581362
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:1059	intellectual disability		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual disability	PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:18403583|PMID:18414213|PMID:18451999|PMID:18614966|PMID:19996082|PMID:20129935|PMID:20630673|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22190371|PMID:22976442|PMID:23106342|PMID:23340081|PMID:2344855|PMID:23448551|PMID:23740044|PMID:24847886|PMID:25487684|PMID:25741868|PMID:26193382|PMID:26598494|PMID:27250207|PMID:28018440|PMID:28116237|PMID:28492532|PMID:28961260|PMID:29930392|PMID:30271476|PMID:31196579|PMID:31302675|PMID:32581362|PMID:32901917|PMID:33015236|PMID:36362347|PMID:40243517
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:1059	intellectual disability		ISO	RGD:737272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual disability	PMID:15622525|PMID:16217704|PMID:18403583|PMID:18414213|PMID:18451999|PMID:19630075|PMID:19996082|PMID:20129935|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22190371|PMID:22976442|PMID:23106342|PMID:23340081|PMID:2344855|PMID:23448551|PMID:24847886|PMID:25487684|PMID:25564316|PMID:25741868|PMID:26193382|PMID:26598494|PMID:27250207|PMID:28018440|PMID:28116237|PMID:28492532|PMID:28961260|PMID:30271476|PMID:31196579|PMID:31302675|PMID:32581362|PMID:32901917|PMID:40243517
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:737272	D	RGD:9068941	20221103	RGD		mRNA:decreased expression:chorionic villus (human)	PMID:22840297|REF_RGD_ID:155631283
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737272	D	RGD:9068941	20200609	RGD			PMID:8179300|REF_RGD_ID:2313620
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:10754	otitis media		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:10980529|PMID:11477212|PMID:19630075|PMID:20129935|PMID:21555602|PMID:24487825|PMID:25741868|PMID:26193382|PMID:26598494|PMID:28042592|PMID:28492532|PMID:32753446
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:10763	hypertension		ISO	RGD:3704	D	RGD:9068941	20200609	RGD		protein:increased expression:renal glomerulus	PMID:12771048|REF_RGD_ID:12879474
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:10907	microcephaly		ISO	RGD:737272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:19630075|PMID:21555602|PMID:21865127|PMID:22976442|PMID:23280796|PMID:25487684|PMID:25564316|PMID:25741868|PMID:26598494|PMID:27250207|PMID:28018440|PMID:28492532|PMID:28717674|PMID:32581362
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:10908	hydrocephalus		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:15622525|PMID:16217704|PMID:18414213|PMID:23340081|PMID:25741868|PMID:28116237|PMID:28492532|PMID:28961260|PMID:32901917
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:18403583|PMID:18451999|PMID:19996082|PMID:20129935|PMID:22190371|PMID:23106342|PMID:2344855|PMID:23448551|PMID:24847886|PMID:25741868|PMID:28492532|PMID:31196579|PMID:40243517
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:10965	spastic diplegia		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:21832227|PMID:25741868|PMID:26193382|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:11155	hypohidrosis		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:25741868|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:11830	myopia		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:21555602|PMID:21865127|PMID:22976442|PMID:25487684|PMID:25741868|PMID:27250207|PMID:28018440|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:11832	visual epilepsy		ISO	RGD:737272	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:10980529|PMID:11603379|PMID:9462754
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:12849	autistic disorder		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:1459	hypothyroidism		ISO	RGD:3704	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebral cortex	PMID:16581179|REF_RGD_ID:12879481
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:737272	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:22784439
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:1825	childhood absence epilepsy	onset	ISO	RGD:737272	D	RGD:9068941	20200609	RGD		DNA:deletion, missense mutations, SNP:multiple	PMID:26537434|REF_RGD_ID:11058811
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:1826	epilepsy		ISO	RGD:737272	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder	PMID:10980529|PMID:16217704|PMID:18403583|PMID:19996082|PMID:20129935|PMID:21832227|PMID:22622956|PMID:23106342|PMID:2344855|PMID:23448551|PMID:24847886|PMID:25326635|PMID:25741868|PMID:26193382|PMID:26216499|PMID:26982753|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:1826	epilepsy		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizures	PMID:15132717|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:18403583|PMID:18414213|PMID:18451999|PMID:18614966|PMID:19996082|PMID:20129935|PMID:20621801|PMID:20630673|PMID:21530357|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22011817|PMID:22190371|PMID:22622956|PMID:22976442|PMID:23106342|PMID:23340081|PMID:2344855|PMID:23448551|PMID:23740044|PMID:24847886|PMID:25487684|PMID:25564316|PMID:25741868|PMID:26193382|PMID:26598494|PMID:26982753|PMID:27250207|PMID:28018440|PMID:28116237|PMID:28492532|PMID:28961260|PMID:29223885|PMID:29930392|PMID:30895386|PMID:31196579|PMID:32901917|PMID:33015236|PMID:36153584|PMID:36362347|PMID:36403551|PMID:37293674|PMID:38914025|PMID:40243517|PMID:8027028|PMID:9374494
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:1826	epilepsy		ISO	RGD:737272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizures	PMID:11076005|PMID:15132717|PMID:15622525|PMID:16217704|PMID:18403583|PMID:18414213|PMID:18451999|PMID:19798636|PMID:19996082|PMID:20129935|PMID:20621801|PMID:21530357|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22011817|PMID:22190371|PMID:22622956|PMID:22976442|PMID:23106342|PMID:23340081|PMID:2344855|PMID:23448551|PMID:24847886|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25982116|PMID:26193382|PMID:26615598|PMID:26982753|PMID:27250207|PMID:27351150|PMID:28018440|PMID:28116237|PMID:28492532|PMID:28961260|PMID:29223885|PMID:30895386|PMID:31196579|PMID:32901917|PMID:36153584|PMID:36362347|PMID:36403551|PMID:37293674|PMID:38914025|PMID:39092009|PMID:40243517|PMID:8027028|PMID:9374494
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:2030	anxiety disorder		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:2154	nephroblastoma	severity	ISO	RGD:737272	D	RGD:9068941	20200609	RGD			PMID:22483234|REF_RGD_ID:12879482
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:2234	focal epilepsy		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:15622525|PMID:18451999|PMID:20129935|PMID:20221955|PMID:20687207|PMID:25741868|PMID:26193382|PMID:28492532|PMID:30271476|PMID:31302675
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:255	hemangioma		ISO	RGD:737272	D	RGD:9068941	20200609	RGD			PMID:10665907|REF_RGD_ID:12879499
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:2841	asthma		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:3704	D	RGD:9068941	20200609	RGD			PMID:9419067|REF_RGD_ID:12879855
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:423	myopathy		ISO	RGD:737272	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:4362	cervical cancer		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7921415
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:480	movement disease		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:21555602|PMID:21865127|PMID:22976442|PMID:25487684|PMID:25741868|PMID:27250207|PMID:28018440|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:540	strabismus		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:15622525|PMID:18451999|PMID:20129935|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22976442|PMID:25487684|PMID:25741868|PMID:26193382|PMID:27250207|PMID:28018440|PMID:28492532|PMID:30271476|PMID:31302675
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:543	dystonia		ISO	RGD:737272	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Paroxysmal dystonia	PMID:25741868|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:630	genetic disease		ISO	RGD:737272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11603379|PMID:12325075|PMID:16217704|PMID:17052934|PMID:17718830|PMID:18387950|PMID:18403583|PMID:18414213|PMID:18451999|PMID:18577546|PMID:19798636|PMID:19996082|PMID:20129935|PMID:20574033|PMID:20621801|PMID:20687207|PMID:20830593|PMID:21069159|PMID:21530357|PMID:21546317|PMID:21555602|PMID:21649651|PMID:21832227|PMID:21865127|PMID:22011817|PMID:22190371|PMID:22704013|PMID:22976442|PMID:23106342|PMID:23280796|PMID:23340081|PMID:2344855|PMID:23448551|PMID:24847886|PMID:25022942|PMID:25099510|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26467025|PMID:26615598|PMID:26982753|PMID:27078104|PMID:27250207|PMID:27725288|PMID:28018440|PMID:28116237|PMID:28419980|PMID:28492532|PMID:28961260|PMID:29530121|PMID:30588498|PMID:30714351|PMID:30895386|PMID:31196579|PMID:31352161|PMID:31737037|PMID:32005694|PMID:32404902|PMID:33446253|PMID:34541019|PMID:34880899|PMID:36088537|PMID:36153584|PMID:36303089|PMID:36362347|PMID:36403551|PMID:36618999|PMID:36842888|PMID:37293674|PMID:38458754|PMID:38914025|PMID:39092009|PMID:40243517|PMID:8027028|PMID:9374494|PMID:9462754
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:6364	migraine		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:21555602|PMID:21865127|PMID:22976442|PMID:25487684|PMID:25741868|PMID:27250207|PMID:28018440|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:655	inherited metabolic disorder		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23452774
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:674	cleft palate		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:10980529|PMID:11477212|PMID:19630075|PMID:20129935|PMID:21555602|PMID:24487825|PMID:25741868|PMID:26193382|PMID:26598494|PMID:28042592|PMID:28492532|PMID:32753446
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8364915
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:83	cataract		ISO	RGD:70495	D	RGD:9068941	20200609	RGD			PMID:11222509|REF_RGD_ID:12801446
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:8398	osteoarthritis		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18973239
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:863	nervous system disease		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23452774
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:8927	learning disability		ISO	RGD:737272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:19630075|PMID:25564316|PMID:25741868|PMID:26598494|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9000495	Tremor		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:15622525|PMID:18451999|PMID:20129935|PMID:25741868|PMID:26193382|PMID:28492532|PMID:30271476|PMID:31302675
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9000727	Syncope		ISO	RGD:737272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:19630075|PMID:25564316|PMID:25741868|PMID:26598494|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9001031	Retrognathia		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:21555602|PMID:21865127|PMID:22976442|PMID:25487684|PMID:25741868|PMID:27250207|PMID:28018440|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9001834	Peritoneal Neoplasms		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22784439
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9002035	Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly		ISO	RGD:737272	D	RGD:7240710	20260722	OMIM			
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9002035	Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly		ISO	RGD:737272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS | ClinVar Annotator: match by term: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS | ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects	PMID:12325075|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18414213|PMID:18577546|PMID:19798636|PMID:20129935|PMID:21546317|PMID:21832227|PMID:22011817|PMID:23280796|PMID:23306390|PMID:23340081|PMID:25108116|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26467025|PMID:26537434|PMID:26598494|PMID:27725288|PMID:28116237|PMID:28419980|PMID:28492532|PMID:28961260|PMID:29655203|PMID:30588498|PMID:30714351|PMID:30895386|PMID:31069529|PMID:31352161|PMID:31737037|PMID:32404902|PMID:34135856|PMID:36088537|PMID:36153584|PMID:36362347|PMID:36842888|PMID:37293674|PMID:38041506|PMID:9536098
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:737272	D	RGD:9068941	20200609	RGD			PMID:15745834|REF_RGD_ID:2312305
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:737272	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:SNP:exon:g.20882C>T (human)	PMID:26337659|REF_RGD_ID:12879466
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:3704	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:22707888|REF_RGD_ID:12879861
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:3704	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver	PMID:9886959|REF_RGD_ID:12879480
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:3704	D	RGD:9068941	20200609	RGD		protein:increased expression:placenta	PMID:11738800|REF_RGD_ID:730192
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:21555602|PMID:21865127|PMID:22976442|PMID:25487684|PMID:25741868|PMID:27250207|PMID:28018440|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9002563	Gait Ataxia		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:21555602|PMID:21865127|PMID:22704013|PMID:22976442|PMID:25487684|PMID:25741868|PMID:26193382|PMID:28018440|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:15622525|PMID:18451999|PMID:20129935|PMID:25741868|PMID:26193382|PMID:28492532|PMID:30271476|PMID:31302675
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20138251
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11953883
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9003760	Myalgia		ISO	RGD:737272	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3704	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain	PMID:19781384|REF_RGD_ID:2313601
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9004354	Alcohol-Related Disorders		ISO	RGD:3704	D	RGD:9068941	20250501	RGD		protein:increased expression:brain, prefrontal cortex, nucleus accumbens (rat)	PMID:26821293|REF_RGD_ID:598150317
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9004866	Ataxia		ISO	RGD:737272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Limb ataxia	PMID:11603379|PMID:17052934|PMID:17718830|PMID:18387950|PMID:18414213|PMID:18451999|PMID:19798636|PMID:20129935|PMID:20687207|PMID:21069159|PMID:21546317|PMID:25741868|PMID:26193382|PMID:28492532|PMID:29530121|PMID:31196579|PMID:32005694|PMID:34541019|PMID:34880899|PMID:36303089|PMID:36618999|PMID:39092009
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9005077	Joint Instability		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9005466	Language Development Disorders		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:21555602|PMID:21865127|PMID:22704013|PMID:22976442|PMID:25487684|PMID:25741868|PMID:26193382|PMID:28018440|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:737272	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:21555602|PMID:21865127|PMID:22704013|PMID:22976442|PMID:25487684|PMID:25741868|PMID:26193382|PMID:28018440|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3704	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:brain	PMID:17935675|REF_RGD_ID:2313617
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:3704	D	RGD:9068941	20200609	RGD			PMID:8345816|REF_RGD_ID:12879858
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:11305	D	RGD:9068941	20231026	RGD			PMID:31353547|REF_RGD_ID:401850595
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26943884
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11953883
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9007661	Dwarfism		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:23280796|PMID:25741868|PMID:28492532|PMID:28717674
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9007736	Vertigo		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:3704	D	RGD:9068941	20200609	RGD			PMID:10336852|REF_RGD_ID:12879857
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:737272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:15622525|PMID:16217704|PMID:18414213|PMID:18451999|PMID:19798636|PMID:20129935|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22976442|PMID:23340081|PMID:25487684|PMID:25741868|PMID:25982116|PMID:26193382|PMID:26982753|PMID:27250207|PMID:28018440|PMID:28116237|PMID:28492532|PMID:28961260|PMID:31196579|PMID:32901917|PMID:39092009
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9008138	Ductal Carcinoma		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20526721
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9008421	Epistaxis		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:737272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:19630075|PMID:25564316|PMID:25741868|PMID:26598494|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9008660	Infantile Capillary Hemangioma		ISO	RGD:737272	D	RGD:9068941	20200609	RGD			PMID:17554865|REF_RGD_ID:12879502
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20197467
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:15622525|PMID:16217704|PMID:18414213|PMID:23340081|PMID:25741868|PMID:28116237|PMID:28492532|PMID:28961260|PMID:32901917
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9009304	Idiopathic Generalized Epilepsy 12		ISO	RGD:737272	D	RGD:7240710	20260722	OMIM			
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9009304	Idiopathic Generalized Epilepsy 12		ISO	RGD:737272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 12	PMID:12325075|PMID:17576681|PMID:17718830|PMID:18414213|PMID:19798636|PMID:20129935|PMID:20221955|PMID:20687207|PMID:21832227|PMID:22011817|PMID:22282645|PMID:23280796|PMID:23306390|PMID:23340081|PMID:25108116|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26267703|PMID:26467025|PMID:26537434|PMID:26598494|PMID:28116237|PMID:28419980|PMID:28492532|PMID:28556183|PMID:28717674|PMID:28961260|PMID:29655203|PMID:30588498|PMID:30714351|PMID:30895386|PMID:31069529|PMID:31737037|PMID:32404902|PMID:34135856|PMID:36088537|PMID:36153584|PMID:36362347|PMID:37293674|PMID:38041506|PMID:9536098
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9296	cleft lip		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:10980529|PMID:11477212|PMID:19630075|PMID:20129935|PMID:21555602|PMID:24487825|PMID:25741868|PMID:26193382|PMID:26598494|PMID:28042592|PMID:28492532|PMID:32753446
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:737272	D	RGD:9068941	20200609	RGD			PMID:10022440|REF_RGD_ID:12879500
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9589670
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737272	D	RGD:9068941	20200609	RGD			PMID:18613291|REF_RGD_ID:2312306
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:737272	D	RGD:9068941	20200609	RGD			PMID:7516306|PMID:9789717|REF_RGD_ID:2312289|REF_RGD_ID:2312290
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:963	episodic ataxia		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Episodic ataxia	PMID:26193382
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9840	esotropia		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:21555602|PMID:21865127|PMID:22976442|PMID:25487684|PMID:25741868|PMID:27250207|PMID:28018440|PMID:28492532
8719421	Slc2a1	solute carrier family 2 member 1	gene	DOID:9970	obesity	treatment	ISO	RGD:737272	D	RGD:9068941	20200609	RGD		associated with Polycystic Ovary Syndrome	PMID:24842895|REF_RGD_ID:12879503
8719444	Skida1	SKI/DACH domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8719444	Skida1	SKI/DACH domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719444	Skida1	SKI/DACH domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8719444	Skida1	SKI/DACH domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8719450	Ly6g5b	lymphocyte antigen 6 family member G5B	gene	DOID:10534	stomach cancer		ISO	RGD:1349012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8719450	Ly6g5b	lymphocyte antigen 6 family member G5B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8719450	Ly6g5b	lymphocyte antigen 6 family member G5B	gene	DOID:1115	sarcoma		ISO	RGD:1349012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8719462	Lmna	lamin A/C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8719462	Lmna	lamin A/C	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC	PMID:22224630|PMID:22266370|PMID:22464770|PMID:23183350|PMID:23853504|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25741868|PMID:27532257|PMID:27585670|PMID:27723096|PMID:27884249|PMID:28492532|PMID:29149195|PMID:29237675|PMID:30165862|PMID:30402260|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:31303467|PMID:31447099|PMID:31829210|PMID:34363016|PMID:34808346|PMID:35526016
8719462	Lmna	lamin A/C	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:17377071|PMID:22224630|PMID:22266370|PMID:22464770|PMID:23183350|PMID:23853504|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25741868|PMID:27532257|PMID:27585670|PMID:27723096|PMID:27884249|PMID:28492532|PMID:29149195|PMID:29237675|PMID:30165862|PMID:30402260|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:31303467|PMID:31447099|PMID:31829210|PMID:34363016|PMID:34808346|PMID:35526016
8719462	Lmna	lamin A/C	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: arrhythmogenic cardiomyopathy	PMID:25741868|PMID:32719615|PMID:38927500
8719462	Lmna	lamin A/C	gene	DOID:0050440	familial partial lipodystrophy		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial partial lipodystrophy | ClinVar Annotator: match by term: LIPODYSTROPHY, REVERSE PARTIAL | ClinVar Annotator: match by term: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules | ClinVar Annotator: match by term: Lipodystrophy, reverse partial	PMID:10080180|PMID:10580070|PMID:10814726|PMID:10939567|PMID:11102973|PMID:11503164|PMID:11561226|PMID:11897440|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12673789|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15372542|PMID:15475483|PMID:15843404|PMID:15965218|PMID:16174718|PMID:16199547|PMID:16278265|PMID:16386954|PMID:16584978|PMID:16809772|PMID:17107595|PMID:17117676|PMID:17136397|PMID:17250669|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:18035086|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19220582|PMID:19318026|PMID:19424285|PMID:19524666|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20848652|PMID:20980393|PMID:21346069|PMID:21400569|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21945321|PMID:22326558|PMID:22464770|PMID:22761994|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23861362|PMID:23977161|PMID:24024053|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24794538|PMID:24990833|PMID:25163546|PMID:25210889|PMID:25448463|PMID:25741868|PMID:25819867|PMID:26165385|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26573435|PMID:26602028|PMID:26688388|PMID:27220833|PMID:27374873|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27707468|PMID:27813223|PMID:27854218|PMID:27884249|PMID:28082330|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28874324|PMID:29057633|PMID:29121657|PMID:29237675|PMID:29693488|PMID:29770364|PMID:29773157|PMID:29895224|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30107846|PMID:30122538|PMID:30287275|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30847666|PMID:30919684|PMID:31383942|PMID:31428229|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32616434|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32917565|PMID:33258288|PMID:33407844|PMID:33916827|PMID:33963534|PMID:34240052|PMID:34292171|PMID:34495297|PMID:34720847|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35026164|PMID:35449878|PMID:35528128|PMID:35535697|PMID:35772917|PMID:36264615|PMID:36267857|PMID:36397776|PMID:36646731|PMID:36704457|PMID:37246508|PMID:37349538|PMID:37589201|PMID:37624850|PMID:37639473|PMID:37652022|PMID:37904629|PMID:38247853|PMID:38473809|PMID:38476290|PMID:38689299|PMID:38691546|PMID:38979608|PMID:39001760|PMID:39737306|PMID:4740717|PMID:8619549|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732790	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11792811|PMID:11799477|PMID:11897440|PMID:11901143|PMID:11973618|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12729796|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15184648|PMID:15219508|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16084085|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16186497|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16891232|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17469202|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18182166|PMID:18348272|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:1849984|PMID:18502446|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20498703|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20709679|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21315846|PMID:21346069|PMID:21462202|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21922471|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22090424|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23243001|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046
8719462	Lmna	lamin A/C	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732790	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25327215|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25567453|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26602028|PMID:26620845|PMID:26662654|PMID:26724531|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034135|PMID:27034136|PMID:27066507|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28166811|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29250285|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29791652|PMID:29845577|PMID:29893365|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30123186|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30954027|PMID:31019283|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31378009|PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31847799|PMID:32004434|PMID:32155092|PMID:32160020|PMID:32456328|PMID:32571898|PMID:32954377|PMID:33673806|PMID:34008892|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732790	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11792811|PMID:11799477|PMID:11897440|PMID:11901143|PMID:11973618|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12729796|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15184648|PMID:15219508|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16084085|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16186497|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16891232|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18182166|PMID:18348272|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:1849984|PMID:18502446|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20498703|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20709679|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21462202|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21922471|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22090424|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510
8719462	Lmna	lamin A/C	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732790	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25327215|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26602028|PMID:26620845|PMID:26662654|PMID:26670336|PMID:26724531|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034135|PMID:27034136|PMID:27066507|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28166811|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29250285|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29791652|PMID:29845577|PMID:29893365|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30123186|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31378009|PMID:31383942|PMID:31447099|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32456328|PMID:32571898|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33673806|PMID:34008892|PMID:34213952|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732790	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034136|PMID:27066507|PMID:27153395|PMID:27182706|PMID:27220833|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29845577|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30107846|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31498906|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32456328|PMID:32571898|PMID:32746448|PMID:32793522|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33258288|PMID:33673806|PMID:34008892|PMID:34213952|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732790	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034136|PMID:27066507|PMID:27153395|PMID:27182706|PMID:27220833|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29845577|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30107846|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31498906|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32456328|PMID:32571898|PMID:32746448|PMID:32793522|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33258288|PMID:33673806|PMID:34008892|PMID:34213952|PMID:35535697|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732790	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11792811|PMID:11799477|PMID:11897440|PMID:11901143|PMID:11973618|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12729796|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15184648|PMID:15219508|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15476822|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15843404|PMID:15866440|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16084085|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16478798|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16891232|PMID:16965317|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:1737707|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17935239|PMID:17967828|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:1849984|PMID:18502446|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20498703|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20837309|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21462202|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21970986|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22090424|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055
8719462	Lmna	lamin A/C	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732790	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:2270059|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046|PMID:23703017|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24034385|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25001855|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25256213|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25327215|PMID:25343322|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25481314|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25640679|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25832542|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26027246|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26220970|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26620845|PMID:26659599|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27034135|PMID:27066507|PMID:27100822|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27332903|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27461183|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:28987496|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29104234|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29250285|PMID:29267953|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29791652|PMID:29845577|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30123186|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30572990|PMID:30696354
8719462	Lmna	lamin A/C	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732790	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31069529|PMID:31194872|PMID:31263448|PMID:31264968|PMID:31270292|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31322791|PMID:31378009|PMID:31383942|PMID:31410651|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31791368|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32458740|PMID:32475984|PMID:32528171|PMID:32548202|PMID:32571898|PMID:32666643|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33250842|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33940562|PMID:33963534|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34360639|PMID:34363016|PMID:34495297|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35535697|PMID:35772917|PMID:36397776|PMID:4684700|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732790	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11792811|PMID:11799477|PMID:11897440|PMID:11901143|PMID:11973618|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12729796|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15184648|PMID:15219508|PMID:15286156|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15476822|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15843404|PMID:15866440|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16084085|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16478798|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16825282|PMID:16891232|PMID:16965317|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17150192|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:1737707|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17556535|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17935239|PMID:17967828|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:1849984|PMID:18502446|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19258295|PMID:19283854|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20498703|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20837309|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21400569|PMID:21462202|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21922471|PMID:21945321|PMID:21970986|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22090424|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558
8719462	Lmna	lamin A/C	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732790	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:22331516|PMID:22337857|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046|PMID:23703017|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24034385|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24639906|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25001855|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25256213|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25327215|PMID:25343322|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25481314|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25640679|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25832542|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26027246|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26220970|PMID:262236|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26620845|PMID:26659599|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27034135|PMID:27066507|PMID:27100822|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27265359|PMID:2733290|PMID:27332903|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27461183|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:27938454|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28118183|PMID:28125586|PMID:28152038|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:28987496|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29104234|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29247119|PMID:29250285|PMID:29253866|PMID:29255176|PMID:29267953|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29557732|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29773157|PMID:29791652|PMID:29845577|PMID:29892087|PMID:29893365
8719462	Lmna	lamin A/C	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732790	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:29895224|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30122538|PMID:30123186|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30572990|PMID:30696354|PMID:30765282|PMID:30838351|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31038196|PMID:31042466|PMID:31069529|PMID:31194872|PMID:31263448|PMID:31264968|PMID:31270292|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31322791|PMID:31378009|PMID:31383942|PMID:31410651|PMID:31428229|PMID:31434876|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31791368|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32458740|PMID:32475984|PMID:32528171|PMID:32548202|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33038109|PMID:33250842|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33552729|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33916827|PMID:33940562|PMID:33963534|PMID:34008892|PMID:34011823|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34340952|PMID:34360639|PMID:34363016|PMID:34495297|PMID:34621001|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35291351|PMID:35434999|PMID:35449878|PMID:35470684|PMID:35526016|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:36136372|PMID:36178741|PMID:36267857|PMID:36293084|PMID:36397776|PMID:36548481|PMID:36646731|PMID:37178278|PMID:37246508|PMID:37589201|PMID:37679847|PMID:4684700|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732790	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23483212|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046|PMID:23703017|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24034385|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24639906|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25256213|PMID:25274841|PMID:25286833|PMID:25319090|PMID:25324471|PMID:25327215|PMID:25343322|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25481314|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25569433|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25640679|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25832542|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26027246|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26220970|PMID:262236|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26620845|PMID:26659599|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27034135|PMID:27034136|PMID:27066507|PMID:27100822|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27265359|PMID:2733290|PMID:27332903|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27461183|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:27938454|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28118183|PMID:28123761|PMID:28125586|PMID:28152038|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28349240|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:28987496|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29104234|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29247119|PMID:29250285|PMID:29253866|PMID:29255176|PMID:29267953|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29557732|PMID:29620724
8719462	Lmna	lamin A/C	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732790	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29773157|PMID:29791652|PMID:29845577|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29907918|PMID:29943882|PMID:29947763|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30122538|PMID:30123186|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30199159|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30572990|PMID:30595509|PMID:30696354|PMID:30739589|PMID:30765282|PMID:30838351|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30919684|PMID:31006814|PMID:31019283|PMID:31038196|PMID:31069529|PMID:31127727|PMID:31194872|PMID:31208058|PMID:31263448|PMID:31264968|PMID:31270292|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31322791|PMID:31378009|PMID:31383942|PMID:31402444|PMID:31410651|PMID:31428229|PMID:31434876|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31527676|PMID:31744510|PMID:31791368|PMID:31794942|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31931689|PMID:31957533|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32021920|PMID:32041611|PMID:32041989|PMID:32083564|PMID:32155092|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32458740|PMID:32461654|PMID:32475984|PMID:32517491|PMID:32528171|PMID:32548202|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32939435|PMID:32943904|PMID:32954377|PMID:33029862|PMID:33038109|PMID:33250842|PMID:33258288|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33552729|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33893211|PMID:33916827|PMID:33940562|PMID:33963534|PMID:34008892|PMID:34011823|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34292171|PMID:34317510|PMID:34340952|PMID:34360639|PMID:34363016|PMID:34495297|PMID:34621001|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35291351|PMID:35384599|PMID:35434999|PMID:35449878|PMID:35470684|PMID:35526016|PMID:35528128|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35887646|PMID:36111332|PMID:36136372|PMID:36178741|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36293084|PMID:36397776|PMID:36548481|PMID:36646731|PMID:36704457|PMID:37178278|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:4684700|PMID:4740717|PMID:8344919|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12788894|PMID:12854972|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14569138|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15184648|PMID:15219508|PMID:15286156|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15473259|PMID:15476822|PMID:15539782|PMID:15678000|PMID:15793835|PMID:15961312|PMID:15965218|PMID:15982412|PMID:15998779|PMID:16046620|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16186497|PMID:16199547|PMID:16218190|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16537768|PMID:16630578|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16825282|PMID:16990647|PMID:17107595|PMID:17150192|PMID:17274801|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17576681|PMID:17599607|PMID:17605093|PMID:17711925|PMID:17848409|PMID:17893350|PMID:17935239|PMID:17987279|PMID:18031308|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18396274|PMID:18414213|PMID:18480576|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19026623|PMID:19172989|PMID:19201734|PMID:19220582|PMID:19258295|PMID:19283854|PMID:19418082|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:20041886|PMID:2007407|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20472316|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20837309|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21346069|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21922471|PMID:21945321|PMID:21970986|PMID:22019351|PMID:22068161|PMID:22071332|PMID:22090424|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22883396|PMID:22893709|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23427149|PMID:23463027|PMID:23582089|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24033266|PMID:24034385|PMID:24080738|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24639906|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24806962|PMID:24861648|PMID:24915601|PMID:24990833|PMID:25163546|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25569433|PMID:25572245|PMID:25637381|PMID:25640679|PMID:25656816|PMID:25741868|PMID:25819867|PMID:25823658|PMID:25885670|PMID:25946677|PMID:25982065|PMID:25988045|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26199943|PMID:26383716|PMID:26443318|PMID:26467025|PMID:26567375|PMID:26573435|PMID:26602028|PMID:26620845|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26899768|PMID:27034136|PMID:27066507|PMID:27100822|PMID:27111165|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27265359|PMID:27373676|PMID:27374873
8719462	Lmna	lamin A/C	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:27461183|PMID:27506821|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27708273|PMID:27813223|PMID:27841971|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27938454|PMID:28082330|PMID:28341588|PMID:28349240|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28531892|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28759816|PMID:28790152|PMID:28790155|PMID:28855170|PMID:28878338|PMID:28878402|PMID:29095976|PMID:29121657|PMID:29211919|PMID:29237675|PMID:29247119|PMID:29250285|PMID:29255176|PMID:29267953|PMID:29367541|PMID:29382405|PMID:29511324|PMID:29557732|PMID:29618840|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29773157|PMID:29845577|PMID:29893365|PMID:29907918|PMID:29943882|PMID:29947763|PMID:29952368|PMID:30012837|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30765282|PMID:30838351|PMID:30847666|PMID:30911407|PMID:31006814|PMID:31069529|PMID:31194872|PMID:31264968|PMID:31270292|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31322791|PMID:31378009|PMID:31383942|PMID:31402444|PMID:31410651|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31527676|PMID:31702781|PMID:31744510|PMID:31762841|PMID:31829210|PMID:31836692|PMID:31957533|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32041611|PMID:32041989|PMID:32140910|PMID:32297714|PMID:32376792|PMID:32408651|PMID:32413188|PMID:32455078|PMID:32466575|PMID:32475984|PMID:32528171|PMID:32571898|PMID:32657593|PMID:32695585|PMID:32727917|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32846814|PMID:32880476|PMID:32917565|PMID:32943904|PMID:32954377|PMID:33038109|PMID:33070394|PMID:33170376|PMID:33250842|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33552729|PMID:33803652|PMID:33824984|PMID:33893211|PMID:33940562|PMID:33963534|PMID:34045587|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34292171|PMID:34340952|PMID:34363016|PMID:34621001|PMID:34674813|PMID:34680903|PMID:34768595|PMID:34862408|PMID:34865644|PMID:34954454|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35291351|PMID:35387801|PMID:35434999|PMID:35449878|PMID:35470684|PMID:35526016|PMID:35528128|PMID:35581137|PMID:35653365|PMID:35772917|PMID:36138163|PMID:36178741|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36293084|PMID:36325899|PMID:36352512|PMID:36396199|PMID:36397776|PMID:36472615|PMID:36548481|PMID:36646731|PMID:36899919|PMID:37058558|PMID:37178278|PMID:37198425|PMID:37246508|PMID:37347242|PMID:37349538|PMID:37589201|PMID:37624850|PMID:37652022|PMID:37679847|PMID:38048861|PMID:38254962|PMID:38259623|PMID:38374194|PMID:38473809|PMID:38476290|PMID:38691546|PMID:38837338|PMID:38979608|PMID:39001760|PMID:39145700|PMID:39550450|PMID:39611258|PMID:39825153|PMID:39923945|PMID:40878535|PMID:4740717|PMID:8621584|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10662742|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11138304|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11897440|PMID:11973618|PMID:12015247|PMID:12057196|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12854972|PMID:12920062|PMID:12927431|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15219508|PMID:15286156|PMID:15372542|PMID:15475483|PMID:15476822|PMID:15678000|PMID:15724423|PMID:15793835|PMID:15843404|PMID:15965218|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16156025|PMID:16174718|PMID:16186497|PMID:16199547|PMID:16218190|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16630578|PMID:16772334|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17136397|PMID:17150192|PMID:17250669|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17459035|PMID:17459069|PMID:17511383|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17605093|PMID:17711925|PMID:17935239|PMID:17967828|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19026623|PMID:19070492|PMID:19167105|PMID:19172989|PMID:19220582|PMID:19258295|PMID:19283854|PMID:19318026|PMID:19424285|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19875404|PMID:19875478|PMID:19882644|PMID:20041886|PMID:20092787|PMID:20127487|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20580717|PMID:20627339|PMID:20837309|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21400569|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21922471|PMID:21945321|PMID:21970986|PMID:22019351|PMID:22068161|PMID:22071332|PMID:22090424|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22893709|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23243001|PMID:23299917|PMID:23328570|PMID:23349452|PMID:23360689|PMID:2336251|PMID:23362510|PMID:23427149|PMID:23463027|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23702046|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24024053|PMID:24033266|PMID:24034385|PMID:24037902|PMID:24080738|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24639906|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24794538|PMID:24806962|PMID:24861648|PMID:24915601|PMID:24990833|PMID:25163546|PMID:25210889|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25569433|PMID:25572245|PMID:25640679|PMID:25656816|PMID:25741868|PMID:25819867|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26199943|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26567375|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26620845|PMID:26670336|PMID:26688388|PMID:26899768|PMID:27034136|PMID:27066507|PMID:27100822|PMID:27111165|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27265359|PMID:27301336|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27447704|PMID:27461183|PMID:27506821|PMID:27532257
8719462	Lmna	lamin A/C	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:27534416|PMID:27585670|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27707468|PMID:27708273|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27938454|PMID:28082330|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28759816|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28855170|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29121657|PMID:29211919|PMID:29237675|PMID:29247119|PMID:29250285|PMID:29267953|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29511324|PMID:29618840|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29773157|PMID:29845577|PMID:29893365|PMID:29895224|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30012837|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30122538|PMID:30165155|PMID:30178466|PMID:30287275|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30765282|PMID:30838351|PMID:30847666|PMID:30911407|PMID:30919684|PMID:30975432|PMID:31006814|PMID:31069529|PMID:31127727|PMID:31194872|PMID:31264968|PMID:31270292|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31322791|PMID:31378009|PMID:31383942|PMID:31402444|PMID:31428229|PMID:31434876|PMID:31453089|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31527676|PMID:31668660|PMID:31702781|PMID:31744510|PMID:31762841|PMID:31829210|PMID:31912959|PMID:31957533|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32021920|PMID:32041611|PMID:32083564|PMID:32140910|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32408651|PMID:32413188|PMID:32455078|PMID:32458740|PMID:32466575|PMID:32475984|PMID:32528171|PMID:32571898|PMID:32616434|PMID:32657593|PMID:32666643|PMID:32695585|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32917565|PMID:32943904|PMID:32954377|PMID:33170376|PMID:33250842|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33552729|PMID:33916827|PMID:33940562|PMID:33963534|PMID:34045587|PMID:34213952|PMID:34240052|PMID:34292171|PMID:34495297|PMID:34621001|PMID:34674813|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35284542|PMID:35352813|PMID:35434999|PMID:35449878|PMID:35470684|PMID:35526016|PMID:35528128|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35714719|PMID:35772917|PMID:35887646|PMID:36138163|PMID:36178741|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36293084|PMID:36325899|PMID:36396199|PMID:36397776|PMID:36472615|PMID:36526864|PMID:36548481|PMID:36646731|PMID:36704457|PMID:36899919|PMID:37058558|PMID:37178278|PMID:37246508|PMID:37347242|PMID:37349538|PMID:37589201|PMID:37624850|PMID:37639473|PMID:37652022|PMID:37904629|PMID:38247853|PMID:38259623|PMID:38374194|PMID:38473809|PMID:38476290|PMID:38689299|PMID:38691546|PMID:38837338|PMID:38979608|PMID:39001760|PMID:39145700|PMID:39611258|PMID:39737306|PMID:39829337|PMID:39923945|PMID:40878535|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, congenital	PMID:25741868|PMID:28492532
8719462	Lmna	lamin A/C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:31525256|PMID:31744510|PMID:31836692|PMID:31857427|PMID:32004434|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32456328|PMID:32746448|PMID:32793522|PMID:32880476|PMID:33258288|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12716787|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21179469|PMID:21315846|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30137533
8719462	Lmna	lamin A/C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33422685|PMID:33458588|PMID:33673806|PMID:34135346|PMID:34240052|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12716787|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21179469|PMID:21315846|PMID:21465660|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954
8719462	Lmna	lamin A/C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:30012837|PMID:30019023|PMID:30137533|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:34135346|PMID:34240052|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21179469|PMID:21315846|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27633507|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690
8719462	Lmna	lamin A/C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34135346|PMID:34240052|PMID:34360639|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21179469|PMID:21315846|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27633507|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29149195
8719462	Lmna	lamin A/C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34135346|PMID:34240052|PMID:34360639|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12702809|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21179469|PMID:21315846|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27633507|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990
8719462	Lmna	lamin A/C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34135346|PMID:34240052|PMID:34360639|PMID:34363016|PMID:34495297|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35449878|PMID:35526016|PMID:35535697|PMID:35772917|PMID:36397776|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28118183|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29557732|PMID:29693488|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30199159|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31019283|PMID:31038196|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31402444|PMID:31428229|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31539150|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32021920|PMID:32041611|PMID:32041989|PMID:32083564|PMID:32160020|PMID:32193531|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32461654|PMID:32571898|PMID:32616434|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:33038109|PMID:33258288|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34240052|PMID:34340952|PMID:34360639|PMID:34363016|PMID:34495297|PMID:34621001|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35284542|PMID:35291351|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35887646|PMID:36136372|PMID:36178741|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36397776|PMID:36646731|PMID:37178278|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:8344919|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12647844|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12716787|PMID:12768443|PMID:12784312|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12938084|PMID:14597414|PMID:14607793|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16046620|PMID:16061563|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16705075|PMID:16715312|PMID:16809772|PMID:16825282|PMID:16990647|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20472316|PMID:20497714|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21179469|PMID:21270786|PMID:21315846|PMID:21400569|PMID:21462202|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21883346|PMID:21945321|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23483212|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23702046|PMID:23757202|PMID:23775434|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24058181|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26098624|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26743238|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27182706|PMID:27199538|PMID:2733290|PMID:27332903|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27697855|PMID:27707468|PMID:27708273|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841901
8719462	Lmna	lamin A/C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:27841971|PMID:27845687|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:27981572|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28118183|PMID:28199729|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28408391|PMID:28416588|PMID:28425981|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29382405|PMID:29386531|PMID:29431110|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29693488|PMID:29709087|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30107846|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30199159|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31019283|PMID:31038196|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31410651|PMID:31428229|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31539150|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32041989|PMID:32160020|PMID:32193531|PMID:32245113|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32461654|PMID:32475984|PMID:32616434|PMID:32657593|PMID:32685188|PMID:32698523|PMID:32740430|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:33029862|PMID:33038109|PMID:33070394|PMID:33258288|PMID:33336002|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33661429|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33824984|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34240052|PMID:34317510|PMID:34340952|PMID:34360639|PMID:34363016|PMID:34461741|PMID:34495297|PMID:34621001|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34954454|PMID:34975533|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35288587|PMID:35291351|PMID:35387801|PMID:35434999|PMID:35449878|PMID:35470680|PMID:35526016|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35898701|PMID:36136372|PMID:36178741|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36293084|PMID:36325899|PMID:36352512|PMID:36396199|PMID:36397776|PMID:36646731|PMID:36704457|PMID:36732629|PMID:36788754|PMID:36971006|PMID:36975868|PMID:37178278|PMID:37198425|PMID:37246508|PMID:37349538|PMID:37387251|PMID:37589201|PMID:37624850|PMID:37639473|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38048861|PMID:38247853|PMID:38254962|PMID:38374194|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38689299|PMID:38691546|PMID:38757491|PMID:38837338|PMID:38979608|PMID:8344919|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10080180|PMID:10739751|PMID:10939567|PMID:11102973|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11897440|PMID:12057196|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12768443|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14675861|PMID:14749366|PMID:15372542|PMID:15475483|PMID:15678000|PMID:15724423|PMID:15843404|PMID:15965218|PMID:16061563|PMID:16174718|PMID:16199547|PMID:16278265|PMID:16584978|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17711925|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18646565|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19167105|PMID:19220582|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19875404|PMID:19882644|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20472316|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21179469|PMID:21315846|PMID:21346069|PMID:21400569|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21945321|PMID:21970986|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22326558|PMID:22464770|PMID:22549407|PMID:22761994|PMID:22806367|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23328570|PMID:23349452|PMID:2336251|PMID:23362510|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23775434|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24024053|PMID:24033266|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24794538|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25286833|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25569433|PMID:25741868|PMID:25819867|PMID:25982065|PMID:26098624|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26573435|PMID:26602028|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27708273|PMID:27884249|PMID:27886618|PMID:28082330|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28759816|PMID:28790152|PMID:28790155|PMID:28874324|PMID:29095976|PMID:29121657|PMID:29237675|PMID:29247119|PMID:29382405|PMID:29432544|PMID:29693488|PMID:29773157|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30078822|PMID:30122538|PMID:30178466|PMID:30287275|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30847666|PMID:30919684|PMID:30975432|PMID:31264968|PMID:31383942|PMID:31402444|PMID:31428229|PMID:31453089|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31668660|PMID:31744510|PMID:31912959|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32012908|PMID:32021920|PMID:32041611|PMID:32041989|PMID:32083564|PMID:32160020|PMID:32193531|PMID:32376792|PMID:32413188|PMID:32458740|PMID:32466575|PMID:32616434|PMID:32666643|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32917565|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33552729|PMID:33916827|PMID:33963534|PMID:34045587|PMID:34240052|PMID:34292171|PMID:34360639|PMID:34495297|PMID:34621001|PMID:34674813|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35284542|PMID:35352813|PMID:35434999|PMID:35449878|PMID:35528128|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35714719|PMID:35772917|PMID:35887646|PMID:36136372|PMID:36178741|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36325899|PMID:36396199|PMID:36397776|PMID:36472615|PMID:36646731|PMID:36704457|PMID:36899919|PMID:37178278|PMID:37246508|PMID:37347242|PMID:37349538|PMID:37589201|PMID:37624850|PMID:37639473|PMID:37652022|PMID:37904629|PMID:38247853|PMID:38374194|PMID:38473809|PMID:38476290|PMID:38689299|PMID:38691546|PMID:38837338|PMID:38979608|PMID:39001760
8719462	Lmna	lamin A/C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:39145700|PMID:39611258|PMID:39905734|PMID:39923945|PMID:40878535|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0050820	atrioventricular block		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atrioventricular block	PMID:17377071|PMID:24033266|PMID:24503780|PMID:24915601|PMID:25741868|PMID:27506821|PMID:28492532|PMID:28679633|PMID:28798025|PMID:29693488|PMID:34768595|PMID:35434999|PMID:38979608|PMID:39905734
8719462	Lmna	lamin A/C	gene	DOID:0060224	atrial fibrillation		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	PMID:17377071|PMID:18551513|PMID:20160190|PMID:20980393|PMID:21632249|PMID:25741868|PMID:28492532
8719462	Lmna	lamin A/C	gene	DOID:0060249	scoliosis		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
8719462	Lmna	lamin A/C	gene	DOID:0060480	left ventricular noncompaction		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction	PMID:19318026|PMID:21846512|PMID:24375749|PMID:24503780|PMID:24623722|PMID:25163546|PMID:25741868|PMID:26404900|PMID:28492532|PMID:28663758|PMID:29961767|PMID:29970176|PMID:30919684|PMID:31383942|PMID:31476771|PMID:31744510|PMID:32041611|PMID:32193531|PMID:32826072|PMID:34495297|PMID:34720847|PMID:34862408|PMID:35026164|PMID:36397776|PMID:37624850|PMID:37639473|PMID:37652022|PMID:38689299|PMID:38979608
8719462	Lmna	lamin A/C	gene	DOID:0060674	catecholaminergic polymorphic ventricular tachycardia		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia	PMID:12376891|PMID:12467752|PMID:14597414|PMID:15372542|PMID:15843404|PMID:16584978|PMID:17107595|PMID:18478590|PMID:18808171|PMID:19524666|PMID:21400569|PMID:22761994|PMID:23861362|PMID:23977161|PMID:24503780|PMID:24623722|PMID:24794538|PMID:25210889|PMID:25448463|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28531892|PMID:30420677|PMID:31428229|PMID:32041611|PMID:32376792|PMID:32698523|PMID:32793522|PMID:32880476|PMID:34240052|PMID:37904629|PMID:38247853
8719462	Lmna	lamin A/C	gene	DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1		ISO	RGD:732790	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1	PMID:12376891|PMID:12467752|PMID:14597414|PMID:15372542|PMID:15843404|PMID:16584978|PMID:17107595|PMID:18478590|PMID:18808171|PMID:19524666|PMID:21400569|PMID:22761994|PMID:23861362|PMID:23977161|PMID:24503780|PMID:24623722|PMID:24794538|PMID:25210889|PMID:25448463|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28531892|PMID:30420677|PMID:31428229|PMID:32041611|PMID:32376792|PMID:32698523|PMID:32793522|PMID:32880476|PMID:34240052
8719462	Lmna	lamin A/C	gene	DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1	PMID:12376891|PMID:12467752|PMID:14597414|PMID:15372542|PMID:15843404|PMID:16584978|PMID:17107595|PMID:18478590|PMID:18808171|PMID:19524666|PMID:21400569|PMID:22761994|PMID:23861362|PMID:23977161|PMID:24503780|PMID:24623722|PMID:24794538|PMID:25210889|PMID:25448463|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28531892|PMID:30420677|PMID:31428229|PMID:32041611|PMID:32376792|PMID:32698523|PMID:32793522|PMID:32880476|PMID:34240052|PMID:37904629|PMID:38247853
8719462	Lmna	lamin A/C	gene	DOID:0060762	restrictive dermopathy		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Restrictive dermopathy	PMID:10080180|PMID:11102973|PMID:11503164|PMID:12629077|PMID:12920062|PMID:12927431|PMID:14615128|PMID:14749366|PMID:16174718|PMID:18396274|PMID:18414213|PMID:18795223|PMID:19318026|PMID:19424285|PMID:20980393|PMID:21846512|PMID:22326558|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:25163546|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26602028|PMID:27506821|PMID:27884249|PMID:28492532|PMID:28663758|PMID:29237675|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30402260|PMID:30919684|PMID:31383942|PMID:31476771|PMID:31744510|PMID:31980526|PMID:32041611|PMID:32193531|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:33407844|PMID:34495297|PMID:34720847|PMID:34862408|PMID:34999423|PMID:35026164|PMID:36397776|PMID:37349538|PMID:37624850|PMID:37639473|PMID:37652022|PMID:38689299|PMID:38979608
8719462	Lmna	lamin A/C	gene	DOID:0060843	hereditary neuropathy with liability to pressure palsies		ISO	RGD:732790	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary liability to pressure palsies	PMID:16288874
8719462	Lmna	lamin A/C	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:12628721|PMID:15475483|PMID:16278265|PMID:16809772|PMID:17250669|PMID:17377071|PMID:17536044|PMID:18926329|PMID:23062543|PMID:24024053|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:27707468|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28663758|PMID:28874324|PMID:29693488|PMID:30420677|PMID:31383942|PMID:31514951|PMID:31525256|PMID:32004434|PMID:32616434|PMID:32746448|PMID:33258288|PMID:33916827|PMID:35026164|PMID:35535697|PMID:36704457|PMID:37652022
8719462	Lmna	lamin A/C	gene	DOID:0070202	familial partial lipodystrophy type 2		ISO	RGD:732790	D	RGD:7240710	20180912	OMIM			
8719462	Lmna	lamin A/C	gene	DOID:0070202	familial partial lipodystrophy type 2		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial partial lipodystrophy, Dunnigan type | ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 | ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan	PMID:10080180|PMID:10580070|PMID:10739751|PMID:10814726|PMID:10939567|PMID:11102973|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11897440|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12673789|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15372542|PMID:15475483|PMID:15843404|PMID:15965218|PMID:16174718|PMID:16199547|PMID:16278265|PMID:16386954|PMID:16584978|PMID:16809772|PMID:17107595|PMID:17117676|PMID:17136397|PMID:17250669|PMID:17325275|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:18035086|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19220582|PMID:19318026|PMID:19424285|PMID:19524666|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20848652|PMID:20980393|PMID:21346069|PMID:21400569|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21883346|PMID:21945321|PMID:22326558|PMID:22464770|PMID:22700598|PMID:22761994|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23783098|PMID:23861362|PMID:23977161|PMID:24024053|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24794538|PMID:24990833|PMID:25163546|PMID:25210889|PMID:25351510|PMID:25367549|PMID:25448463|PMID:25741868|PMID:25819867|PMID:26165385|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26573435|PMID:26602028|PMID:26688388|PMID:26724531|PMID:27220833|PMID:27374873|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27707468|PMID:27813223|PMID:27841971|PMID:27884249|PMID:28082330|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28874324|PMID:29057633|PMID:29078011|PMID:29121657|PMID:29237675|PMID:29693488|PMID:29770364|PMID:29773157|PMID:29895224|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30122538|PMID:30177912|PMID:30287275|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30595509|PMID:30847666|PMID:30919684|PMID:31293201|PMID:31383942|PMID:31428229|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32616434|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32917565|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34240052|PMID:34292171|PMID:34495297|PMID:34720847|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35026164|PMID:35449878|PMID:35528128|PMID:35535697|PMID:35772917|PMID:36264615|PMID:36267857|PMID:36397776|PMID:36646731|PMID:36704457|PMID:37246508|PMID:37349538|PMID:37589201|PMID:37624850|PMID:37639473|PMID:37652022|PMID:37904629|PMID:38247853|PMID:38473809|PMID:38476290|PMID:38689299|PMID:38691546|PMID:38979608|PMID:39001760|PMID:39737306|PMID:4740717|PMID:8619549|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0070246	X-linked Emery-Dreifuss muscular dystrophy 1		ISO	RGD:732790	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures	PMID:11102973|PMID:11503164|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:15140538|PMID:15372542|PMID:15475483|PMID:15843404|PMID:15998779|PMID:16174718|PMID:16584978|PMID:17107595|PMID:17334235|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18795223|PMID:18808171|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19638735|PMID:19680556|PMID:20848652|PMID:21400569|PMID:22326558|PMID:22761994|PMID:23702046|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:25210889|PMID:25214167|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:262236|PMID:26392352|PMID:26467025|PMID:26602028|PMID:2733290|PMID:27332903|PMID:27506821|PMID:27532257|PMID:27813223|PMID:27884249|PMID:27896052|PMID:28492532|PMID:28531892|PMID:28663758|PMID:28679633|PMID:28785654|PMID:28790152|PMID:29237675|PMID:29255176|PMID:29693488|PMID:29952368|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30847666|PMID:31383942|PMID:31428229|PMID:31744510|PMID:31980526|PMID:32041611|PMID:32376792|PMID:32698523|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:34240052|PMID:34999423|PMID:35533453|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0070246	X-linked Emery-Dreifuss muscular dystrophy 1		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures	PMID:10080180|PMID:11102973|PMID:11503164|PMID:12376891|PMID:12467752|PMID:12629077|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14749366|PMID:15372542|PMID:15843404|PMID:16174718|PMID:16584978|PMID:17107595|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18795223|PMID:18808171|PMID:19318026|PMID:19424285|PMID:19524666|PMID:20980393|PMID:21400569|PMID:22326558|PMID:22761994|PMID:23861362|PMID:23977161|PMID:24033266|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24794538|PMID:25210889|PMID:25448463|PMID:25741868|PMID:26467025|PMID:26602028|PMID:27506821|PMID:27532257|PMID:27884249|PMID:28492532|PMID:28531892|PMID:28663758|PMID:29237675|PMID:29952368|PMID:30402260|PMID:30420677|PMID:31383942|PMID:31428229|PMID:31980526|PMID:32041611|PMID:32376792|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:34240052|PMID:34999423|PMID:37349538|PMID:37904629|PMID:38247853
8719462	Lmna	lamin A/C	gene	DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2		ISO	RGD:732790	D	RGD:7240710	20180912	OMIM			
8719462	Lmna	lamin A/C	gene	DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2		ISO	RGD:732790	D	RGD:8554872	20240116	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B | ClinVar Annotator: match by term: SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11897440|PMID:12032588|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12784312|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15744034|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:17136397|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24990833|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25343322|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221
8719462	Lmna	lamin A/C	gene	DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2		ISO	RGD:732790	D	RGD:8554872	20240116	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B | ClinVar Annotator: match by term: SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY	PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32455078|PMID:32475984|PMID:32727917|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34495297|PMID:34768595|PMID:34999423|PMID:35026164|PMID:35449878|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2		ISO	RGD:732790	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12673789|PMID:12788894|PMID:12920062|PMID:12927431|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15219508|PMID:15473259|PMID:15476822|PMID:15539782|PMID:15965218|PMID:16046620|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16537768|PMID:16809772|PMID:16990647|PMID:17274801|PMID:17334235|PMID:17377071|PMID:17576681|PMID:17711925|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18396274|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19418082|PMID:19589617|PMID:19764019|PMID:19842191|PMID:19859838|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20576434|PMID:20625965|PMID:20662858|PMID:20837309|PMID:20848652|PMID:20980393|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21840938|PMID:21846512|PMID:22186027|PMID:22199124|PMID:22326558|PMID:22464770|PMID:22700598|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23701190|PMID:23804595|PMID:23853504|PMID:24033266|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:25286833|PMID:25324471|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25988045|PMID:25996830|PMID:26098624|PMID:26199943|PMID:26467025|PMID:26573435|PMID:26662654|PMID:26688388|PMID:26899768|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27813223|PMID:27884249|PMID:28082330|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28790152|PMID:28790155|PMID:29095976|PMID:29121657|PMID:29237675|PMID:29255176|PMID:29557732|PMID:29693488|PMID:29773157|PMID:29947763|PMID:29952368|PMID:30083363|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30178466|PMID:30218058|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30847666|PMID:31194872|PMID:31383942|PMID:31410651|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31744510|PMID:31836692|PMID:31980526|PMID:31983221|PMID:32041611|PMID:32041989|PMID:32376792|PMID:32455078|PMID:32475984|PMID:32528171|PMID:32571898|PMID:32727917|PMID:32818388|PMID:32880476|PMID:33038109|PMID:33070394|PMID:33250842|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33803652|PMID:33824984|PMID:33893211|PMID:33963534|PMID:34135346|PMID:34240052|PMID:34340952|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34862408|PMID:34865644|PMID:34954454|PMID:34999423|PMID:35239206|PMID:35291351|PMID:35387801|PMID:35434999|PMID:35449878|PMID:35772917|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36352512|PMID:36397776|PMID:36646731|PMID:37198425|PMID:37246508|PMID:37349538|PMID:37589201|PMID:37679847|PMID:38048861|PMID:38254962|PMID:38374194|PMID:38473809|PMID:38691546|PMID:39550450|PMID:4740717|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B	PMID:10080180|PMID:10580070|PMID:10739764|PMID:10814726|PMID:10939567|PMID:11102973|PMID:11138304|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11897440|PMID:11973618|PMID:12057196|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12673789|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15372542|PMID:15475483|PMID:15476822|PMID:15843404|PMID:15965218|PMID:16174718|PMID:16199547|PMID:16278265|PMID:16386954|PMID:16584978|PMID:16809772|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17967828|PMID:18035086|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19070492|PMID:19318026|PMID:19424285|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19882644|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20837309|PMID:20848652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21400569|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21840938|PMID:21846512|PMID:22186027|PMID:22326558|PMID:22464770|PMID:22761994|PMID:22806367|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23328570|PMID:23349452|PMID:2336251|PMID:23362510|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24024053|PMID:24033266|PMID:24237251|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24794538|PMID:24990833|PMID:25163546|PMID:25210889|PMID:25343322|PMID:25448463|PMID:25741868|PMID:25948554|PMID:25987458|PMID:25996830|PMID:26098624|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26688388|PMID:27220833|PMID:27363342|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27707468|PMID:27813223|PMID:27854218|PMID:27884249|PMID:28082330|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28874324|PMID:29057633|PMID:29121657|PMID:29237675|PMID:29693488|PMID:29773157|PMID:29895224|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30122538|PMID:30218058|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30847666|PMID:30919684|PMID:31127727|PMID:31383942|PMID:31402444|PMID:31428229|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31668660|PMID:31744510|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32475984|PMID:32528171|PMID:32571898|PMID:32616434|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33250842|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34240052|PMID:34495297|PMID:34720847|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35026164|PMID:35352813|PMID:35449878|PMID:35535697|PMID:35772917|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36397776|PMID:36646731|PMID:36704457|PMID:37246508|PMID:37349538|PMID:37589201|PMID:37624850|PMID:37639473|PMID:37652022|PMID:37904629|PMID:38247853|PMID:38374194|PMID:38473809|PMID:38689299|PMID:38691546|PMID:38979608|PMID:4740717|PMID:8619549|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0070248	autosomal recessive Emery-Dreifuss muscular dystrophy 3		ISO	RGD:732790	D	RGD:7240710	20180523	OMIM			
8719462	Lmna	lamin A/C	gene	DOID:0070248	autosomal recessive Emery-Dreifuss muscular dystrophy 3		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive	PMID:10080180|PMID:10580070|PMID:10739764|PMID:10814726|PMID:10939567|PMID:11503164|PMID:11561226|PMID:11897440|PMID:12057196|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12673789|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14659775|PMID:14749366|PMID:15053843|PMID:15372542|PMID:15475483|PMID:15843404|PMID:15965218|PMID:16174718|PMID:16199547|PMID:16278265|PMID:16386954|PMID:16584978|PMID:16809772|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17711925|PMID:18035086|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19318026|PMID:19424285|PMID:19524666|PMID:19589617|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20848652|PMID:20980393|PMID:21400569|PMID:21535365|PMID:21632249|PMID:21840938|PMID:21846512|PMID:22326558|PMID:22464770|PMID:22761994|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23861362|PMID:23977161|PMID:24024053|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24794538|PMID:24990833|PMID:25163546|PMID:25210889|PMID:25448463|PMID:25741868|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26573435|PMID:26688388|PMID:27220833|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27707468|PMID:27813223|PMID:27884249|PMID:28082330|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28874324|PMID:29121657|PMID:29693488|PMID:29773157|PMID:29895224|PMID:29961767|PMID:29970176|PMID:30122538|PMID:30418556|PMID:30420677|PMID:30847666|PMID:30919684|PMID:31383942|PMID:31428229|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32616434|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32793522|PMID:32826072|PMID:32880476|PMID:33258288|PMID:33916827|PMID:33963534|PMID:34240052|PMID:34495297|PMID:34720847|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35026164|PMID:35449878|PMID:35535697|PMID:35772917|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36397776|PMID:36646731|PMID:36704457|PMID:37246508|PMID:37349538|PMID:37589201|PMID:37624850|PMID:37639473|PMID:37652022|PMID:37904629|PMID:38247853|PMID:38374194|PMID:38473809|PMID:38689299|PMID:38691546|PMID:38979608|PMID:4740717|PMID:8619549|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0070307	craniolenticulosutural dysplasia		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: craniolenticulosutural dysplasia	PMID:10939567|PMID:11792809|PMID:15148145|PMID:18414213|PMID:18551513|PMID:20980393|PMID:21520333|PMID:21632249|PMID:23183350|PMID:23427149|PMID:24508248|PMID:25741868|PMID:28492532|PMID:29253866|PMID:32571898|PMID:34008892
8719462	Lmna	lamin A/C	gene	DOID:0070369	restrictive dermopathy 1		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Restrictive dermopathy 1	PMID:10080180|PMID:11102973|PMID:11503164|PMID:12629077|PMID:12920062|PMID:12927431|PMID:14615128|PMID:14749366|PMID:16174718|PMID:18396274|PMID:18414213|PMID:18795223|PMID:19318026|PMID:19424285|PMID:20980393|PMID:21846512|PMID:22326558|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:25163546|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26602028|PMID:27506821|PMID:27884249|PMID:28492532|PMID:28663758|PMID:29237675|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30402260|PMID:30919684|PMID:31383942|PMID:31476771|PMID:31744510|PMID:31980526|PMID:32041611|PMID:32193531|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:33407844|PMID:34495297|PMID:34720847|PMID:34862408|PMID:34999423|PMID:35026164|PMID:36397776|PMID:37349538|PMID:37624850|PMID:37639473|PMID:37652022|PMID:38689299|PMID:38979608
8719462	Lmna	lamin A/C	gene	DOID:0070370	restrictive dermopathy 2		ISO	RGD:732790	D	RGD:7240710	20230505	OMIM			
8719462	Lmna	lamin A/C	gene	DOID:0070370	restrictive dermopathy 2		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2 | ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL | ClinVar Annotator: match by term: Restrictive dermopathy 2	PMID:10080180|PMID:10814726|PMID:10939567|PMID:11503164|PMID:11897440|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14749366|PMID:15053843|PMID:15317753|PMID:15372542|PMID:15475483|PMID:15793835|PMID:15843404|PMID:15965218|PMID:15982412|PMID:16174718|PMID:16278265|PMID:16386954|PMID:16584978|PMID:16809772|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17377071|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17576681|PMID:17711925|PMID:18035086|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18564364|PMID:18646565|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19172989|PMID:19318026|PMID:19424285|PMID:19524666|PMID:20307303|PMID:20580717|PMID:20848652|PMID:20980393|PMID:21251803|PMID:21400569|PMID:21632249|PMID:21738662|PMID:21840938|PMID:21846512|PMID:21875900|PMID:22148005|PMID:22326558|PMID:22611635|PMID:22685055|PMID:22761994|PMID:22893709|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23328570|PMID:23349452|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24024053|PMID:24033266|PMID:24305605|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24794538|PMID:24990833|PMID:25163546|PMID:25210889|PMID:25448463|PMID:25556323|PMID:25567453|PMID:25741868|PMID:25946677|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26573435|PMID:26670336|PMID:27220833|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27707468|PMID:27884249|PMID:28082330|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28874324|PMID:28878338|PMID:29121657|PMID:29693488|PMID:29773157|PMID:29895224|PMID:29961767|PMID:29970176|PMID:30122538|PMID:30418556|PMID:30420677|PMID:30847666|PMID:30911407|PMID:30919684|PMID:31006814|PMID:31383942|PMID:31428229|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31980526|PMID:32004434|PMID:32041611|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32616434|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32793522|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33916827|PMID:33963534|PMID:34240052|PMID:34495297|PMID:34720847|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35026164|PMID:35449878|PMID:35535697|PMID:35772917|PMID:36264615|PMID:36267857|PMID:36397776|PMID:36646731|PMID:36704457|PMID:37246508|PMID:37349538|PMID:37589201|PMID:37624850|PMID:37639473|PMID:37652022|PMID:37904629|PMID:38247853|PMID:38473809|PMID:38689299|PMID:38691546|PMID:38979608|PMID:4740717|PMID:8619549|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:12057196|PMID:16407522|PMID:16585054|PMID:17576681|PMID:18414213|PMID:18714801|PMID:19589617|PMID:20627339|PMID:21535365|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25525159|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:31019283|PMID:31333075|PMID:31476771|PMID:31568572|PMID:32376792|PMID:33673806|PMID:34240052|PMID:8621584|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:12057196|PMID:16407522|PMID:16585054|PMID:17576681|PMID:18414213|PMID:18478590|PMID:18714801|PMID:19589617|PMID:20627339|PMID:21535365|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25274841|PMID:25525159|PMID:25741868|PMID:27182706|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:31019283|PMID:31333075|PMID:31383942|PMID:31476771|PMID:31568572|PMID:32376792|PMID:33673806|PMID:34240052|PMID:34862408|PMID:8621584|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:12057196|PMID:16407522|PMID:16585054|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18478590|PMID:18714801|PMID:19589617|PMID:20627339|PMID:21535365|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25274841|PMID:25525159|PMID:25741868|PMID:27182706|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:30847666|PMID:31019283|PMID:31333075|PMID:31383942|PMID:31476771|PMID:31568572|PMID:32376792|PMID:33673806|PMID:34240052|PMID:34768595|PMID:34788595|PMID:34862408|PMID:38374194|PMID:8621584|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:12057196|PMID:19589617|PMID:21535365|PMID:24033266|PMID:24375749|PMID:24623722|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31383942|PMID:31568572|PMID:34862408|PMID:36282542|PMID:38374194
8719462	Lmna	lamin A/C	gene	DOID:0080334	aortic valve disease 2		ISO	RGD:732790	D	RGD:9068941	20200609	RGD		protein:decreased expression:aorta wall, nucleus (human)	PMID:24560417|REF_RGD_ID:12791292
8719462	Lmna	lamin A/C	gene	DOID:0081127	mandibuloacral dysplasia		ISO	RGD:732790	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Mandibuloacral dysplasia	PMID:25741868
8719462	Lmna	lamin A/C	gene	DOID:0081128	mandibuloacral dysplasia type A lipodystrophy		ISO	RGD:732790	D	RGD:7240710	20180130	OMIM			
8719462	Lmna	lamin A/C	gene	DOID:0081128	mandibuloacral dysplasia type A lipodystrophy		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LIPODYSTROPHY, TYPE A, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA | ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia | ClinVar Annotator: match by term: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy	PMID:10080180|PMID:10580070|PMID:10814726|PMID:10939567|PMID:11102973|PMID:11503164|PMID:11561226|PMID:11897440|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12673789|PMID:12784312|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14749366|PMID:15053843|PMID:15372542|PMID:15475483|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16174718|PMID:16199547|PMID:16278265|PMID:16386954|PMID:16584978|PMID:16809772|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17711925|PMID:18035086|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19318026|PMID:19424285|PMID:19524666|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20848652|PMID:20980393|PMID:21400569|PMID:21632249|PMID:21840938|PMID:21846512|PMID:22326558|PMID:22464770|PMID:22761994|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23861362|PMID:23977161|PMID:24024053|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24794538|PMID:24990833|PMID:25163546|PMID:25210889|PMID:25448463|PMID:25741868|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26573435|PMID:26602028|PMID:26688388|PMID:27100822|PMID:27220833|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27707468|PMID:27813223|PMID:27884249|PMID:28082330|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28874324|PMID:29121657|PMID:29237675|PMID:29693488|PMID:29773157|PMID:29895224|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30122538|PMID:30137533|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30847666|PMID:30919684|PMID:31383942|PMID:31428229|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32475984|PMID:32616434|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33916827|PMID:33963534|PMID:34240052|PMID:34495297|PMID:34720847|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35026164|PMID:35449878|PMID:35535697|PMID:35772917|PMID:36264615|PMID:36267857|PMID:36397776|PMID:36646731|PMID:36704457|PMID:37246508|PMID:37349538|PMID:37589201|PMID:37624850|PMID:37639473|PMID:37652022|PMID:37904629|PMID:38247853|PMID:38473809|PMID:38689299|PMID:38691546|PMID:38979608|PMID:4740717|PMID:8619549|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0110077	arrhythmogenic right ventricular dysplasia 9		ISO	RGD:732790	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9	PMID:25741868
8719462	Lmna	lamin A/C	gene	DOID:0110156	Charcot-Marie-Tooth disease type 2B1		ISO	RGD:732790	D	RGD:7240710	20180130	OMIM			
8719462	Lmna	lamin A/C	gene	DOID:0110156	Charcot-Marie-Tooth disease type 2B1		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1	PMID:10080180|PMID:10580070|PMID:10814726|PMID:10939567|PMID:11102973|PMID:11503164|PMID:11561226|PMID:11897440|PMID:12057196|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12673789|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14749366|PMID:15053843|PMID:15372542|PMID:15475483|PMID:15843404|PMID:15965218|PMID:16174718|PMID:16199547|PMID:16278265|PMID:16386954|PMID:16584978|PMID:16809772|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17711925|PMID:18035086|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19220582|PMID:19318026|PMID:19424285|PMID:19524666|PMID:19589617|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20848652|PMID:20980393|PMID:21400569|PMID:21535365|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21945321|PMID:22326558|PMID:22464770|PMID:22761994|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23861362|PMID:23977161|PMID:24024053|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24794538|PMID:24990833|PMID:25163546|PMID:25210889|PMID:25448463|PMID:25741868|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26573435|PMID:26602028|PMID:26688388|PMID:27220833|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27707468|PMID:27813223|PMID:27884249|PMID:28082330|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28874324|PMID:29121657|PMID:29237675|PMID:29693488|PMID:29773157|PMID:29895224|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30122538|PMID:30287275|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30847666|PMID:30919684|PMID:31383942|PMID:31428229|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32616434|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32917565|PMID:33258288|PMID:33407844|PMID:33916827|PMID:33963534|PMID:34240052|PMID:34495297|PMID:34720847|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35026164|PMID:35449878|PMID:35535697|PMID:35772917|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36397776|PMID:36646731|PMID:36704457|PMID:37246508|PMID:37349538|PMID:37589201|PMID:37624850|PMID:37639473|PMID:37652022|PMID:37904629|PMID:38247853|PMID:38374194|PMID:38473809|PMID:38689299|PMID:38691546|PMID:38979608|PMID:39001760|PMID:4740717|PMID:8619549|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:732790	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive	PMID:12920062|PMID:15475483|PMID:15998779|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18549403|PMID:18795223|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19638735|PMID:23861362|PMID:24001739|PMID:24033266|PMID:24721642|PMID:25741868|PMID:26467025|PMID:26602028|PMID:27896052|PMID:28492532|PMID:28679633|PMID:28785654|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0110276	autosomal recessive limb-girdle muscular dystrophy type 2B		ISO	RGD:732790	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B	PMID:18585512|PMID:18926329|PMID:25741868|PMID:28492532|PMID:31263448
8719462	Lmna	lamin A/C	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:732790	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10580070|PMID:16407522|PMID:16585054|PMID:18414213|PMID:18714801|PMID:20627339|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25525159|PMID:25741868|PMID:27532257|PMID:27760138|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:31019283|PMID:31476771|PMID:33673806|PMID:34240052|PMID:8621584
8719462	Lmna	lamin A/C	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:732790	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10580070|PMID:16407522|PMID:16585054|PMID:17576681|PMID:18414213|PMID:18478590|PMID:18714801|PMID:20627339|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25274841|PMID:25525159|PMID:25741868|PMID:27182706|PMID:27532257|PMID:27760138|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:31019283|PMID:31383942|PMID:31476771|PMID:32376792|PMID:33673806|PMID:34240052|PMID:34768595|PMID:34788595|PMID:34862408|PMID:8621584|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:732790	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10580070|PMID:16407522|PMID:16585054|PMID:17377071|PMID:18478590|PMID:20627339|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25274841|PMID:25741868|PMID:27182706|PMID:27532257|PMID:27760138|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:30847666|PMID:31019283|PMID:31383942|PMID:31476771|PMID:33673806|PMID:34240052|PMID:34768595|PMID:34788595|PMID:34862408|PMID:36975868
8719462	Lmna	lamin A/C	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:12057196|PMID:19589617|PMID:21535365|PMID:24033266|PMID:24375749|PMID:24623722|PMID:25741868|PMID:28492532|PMID:31383942|PMID:34862408|PMID:36282542|PMID:38374194
8719462	Lmna	lamin A/C	gene	DOID:0110308	hypertrophic cardiomyopathy 2		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2	PMID:12920062|PMID:18414213|PMID:18795223|PMID:19318026|PMID:19424285|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32746448
8719462	Lmna	lamin A/C	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:732790	D	RGD:7240710	20180919	OMIM			
8719462	Lmna	lamin A/C	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:732790	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15219508|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15972724|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17274801|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19167105|PMID:19169477|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25343322|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27235420|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052
8719462	Lmna	lamin A/C	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:732790	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878402|PMID:28912206|PMID:29040816|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1A | ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1A | ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	PMID:10080180|PMID:10580070|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102973|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11897440|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12673789|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15140538|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15843404|PMID:15965218|PMID:15972724|PMID:16061563|PMID:16174718|PMID:16199547|PMID:16218190|PMID:16278265|PMID:16386954|PMID:16584978|PMID:16809772|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17334235|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17967828|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19070492|PMID:19167105|PMID:19318026|PMID:19424285|PMID:19524666|PMID:19638735|PMID:19875404|PMID:19882644|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21173262|PMID:21179469|PMID:21315846|PMID:21400569|PMID:21632249|PMID:21840938|PMID:21846512|PMID:22177269|PMID:22186027|PMID:22224630|PMID:22326558|PMID:22337857|PMID:22464770|PMID:22761994|PMID:22806367|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23328570|PMID:23349452|PMID:2336251|PMID:23362510|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24794538|PMID:24915601|PMID:24990833|PMID:25163546|PMID:25210889|PMID:25343322|PMID:25448463|PMID:25469153|PMID:25498755|PMID:25525159|PMID:25569433|PMID:25741868|PMID:25948554|PMID:25987458|PMID:26084686|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26688388|PMID:27220833|PMID:27235420|PMID:27301336|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27760138|PMID:27813223|PMID:27854218|PMID:27884249|PMID:27886618|PMID:28082330|PMID:28123761|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28759816|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28874324|PMID:29057633|PMID:29095976|PMID:29121657|PMID:29237675|PMID:29382405|PMID:29432544|PMID:29668927|PMID:29693488|PMID:29773157|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30078822|PMID:30107846|PMID:30122538|PMID:30178466|PMID:30287275|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30739589|PMID:30847666|PMID:30919684|PMID:30975432|PMID:31127727|PMID:31208058|PMID:31264968|PMID:31383942|PMID:31402444|PMID:31428229|PMID:31434876|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31668660|PMID:31744510|PMID:31844279|PMID:31847799|PMID:31912959|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32021920|PMID:32041611|PMID:32083564|PMID:32160020|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32458740|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32698523|PMID:32719615|PMID:32727917|PMID:32746448|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:33029862|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34240052|PMID:34354059|PMID:34495297|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34862397|PMID:34862408|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35352813|PMID:35434999|PMID:35449878|PMID:35470684|PMID:35535697|PMID:35653365|PMID:35714719|PMID:35772917|PMID:35887646|PMID:36111332|PMID:36138163|PMID:36178741|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36397776|PMID:36472615|PMID:36646731|PMID:36704457|PMID:37246508|PMID:37349538
8719462	Lmna	lamin A/C	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1A | ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1A | ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	PMID:37589201|PMID:37624850|PMID:37639473|PMID:37652022|PMID:37904629|PMID:38247853|PMID:38473809|PMID:38476290|PMID:38689299|PMID:38691546|PMID:38778055|PMID:38979608|PMID:39145700|PMID:39829337|PMID:39905734|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0110426	dilated cardiomyopathy 1D		ISO	RGD:732790	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1D	PMID:25741868
8719462	Lmna	lamin A/C	gene	DOID:0110443	dilated cardiomyopathy 1B		ISO	RGD:732790	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial	PMID:11897440|PMID:17377071|PMID:18926329|PMID:19318026|PMID:19875404|PMID:20301609|PMID:20301717|PMID:21846512|PMID:23142632|PMID:23349452|PMID:24033266|PMID:24503780|PMID:25469153|PMID:25741868|PMID:26383716|PMID:26467025|PMID:27532257|PMID:27585670|PMID:27886618|PMID:28436080|PMID:28492532|PMID:28759816|PMID:28790152|PMID:28790155|PMID:29095976|PMID:29382405|PMID:29943882|PMID:30178466|PMID:30287275|PMID:30402260|PMID:30420677|PMID:31264968|PMID:31476771|PMID:31514951|PMID:31983221|PMID:32160020|PMID:34768595|PMID:34773379|PMID:34862408|PMID:35434999|PMID:35653365|PMID:36178741|PMID:37624850
8719462	Lmna	lamin A/C	gene	DOID:0110498	autosomal recessive nonsyndromic deafness 4		ISO	RGD:732790	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct	PMID:21465660|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26602028|PMID:28492532
8719462	Lmna	lamin A/C	gene	DOID:0110498	autosomal recessive nonsyndromic deafness 4		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 4	PMID:24033266|PMID:25741868|PMID:26467025|PMID:26602028|PMID:28492532
8719462	Lmna	lamin A/C	gene	DOID:0110640	congenital muscular dystrophy due to LMNA mutation		ISO	RGD:732790	D	RGD:7240710	20180130	OMIM			
8719462	Lmna	lamin A/C	gene	DOID:0110640	congenital muscular dystrophy due to LMNA mutation		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation | ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED	PMID:10080180|PMID:10580070|PMID:10739764|PMID:10814726|PMID:10939567|PMID:11102973|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11897440|PMID:12057196|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12673789|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15372542|PMID:15475483|PMID:15843404|PMID:15965218|PMID:16174718|PMID:16199547|PMID:16278265|PMID:16386954|PMID:16584978|PMID:16809772|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17967828|PMID:18035086|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19070492|PMID:19318026|PMID:19424285|PMID:19524666|PMID:19589617|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20848652|PMID:20980393|PMID:21173262|PMID:21400569|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21840938|PMID:21846512|PMID:22090424|PMID:22326558|PMID:22464770|PMID:22491857|PMID:22761994|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24024053|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24794538|PMID:24806962|PMID:24990833|PMID:25163546|PMID:25210889|PMID:25343322|PMID:25448463|PMID:25741868|PMID:25948554|PMID:25987458|PMID:26098624|PMID:26165385|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26688388|PMID:27220833|PMID:27363342|PMID:27374873|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27600705|PMID:27650965|PMID:27707468|PMID:27813223|PMID:27854218|PMID:27876398|PMID:27884249|PMID:28082330|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28874324|PMID:29057633|PMID:29121657|PMID:29237675|PMID:29693488|PMID:29770364|PMID:29773157|PMID:29895224|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30107846|PMID:30122538|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30847666|PMID:30919684|PMID:31127727|PMID:31383942|PMID:31428229|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32571898|PMID:32616434|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34240052|PMID:34495297|PMID:34720847|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35026164|PMID:35284542|PMID:35449878|PMID:35535697|PMID:35772917|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36325899|PMID:36397776|PMID:36646731|PMID:36704457|PMID:37246508|PMID:37349538|PMID:37589201|PMID:37624850|PMID:37639473|PMID:37652022|PMID:37904629|PMID:38247853|PMID:38374194|PMID:38473809|PMID:38689299|PMID:38691546|PMID:38979608|PMID:39737306|PMID:4740717|PMID:8619549|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:732790	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
8719462	Lmna	lamin A/C	gene	DOID:0111198	autosomal dominant distal hereditary motor neuronopathy		ISO	RGD:732790	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy	PMID:18585512|PMID:18926329|PMID:25741868|PMID:25886484|PMID:28152038|PMID:28492532
8719462	Lmna	lamin A/C	gene	DOID:0111338	isolated elevated serum creatine phosphokinase levels		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Elevated serum creatine phosphokinase	PMID:25256213|PMID:25741868|PMID:28492532
8719462	Lmna	lamin A/C	gene	DOID:0111577	dehydrated hereditary stomatocytosis 2		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 2	PMID:23062543|PMID:25741868|PMID:28416588|PMID:28492532|PMID:28663758|PMID:28790152|PMID:30847666|PMID:31514951|PMID:31744510|PMID:32041611|PMID:32413188|PMID:34862408|PMID:34975533|PMID:35026164|PMID:36396199|PMID:37347242
8719462	Lmna	lamin A/C	gene	DOID:0111584	dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome		ISO	RGD:732790	D	RGD:7240710	20180130	OMIM			
8719462	Lmna	lamin A/C	gene	DOID:0111584	dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome		ISO	RGD:732790	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: CARDIOGENITAL SYNDROME | ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy | ClinVar Annotator: match by term: NAJJAR SYNDROME	PMID:10080180|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12075506|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12716787|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15053843|PMID:15060110|PMID:15219508|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15965218|PMID:16046620|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16705075|PMID:16715312|PMID:16809772|PMID:17107595|PMID:17136397|PMID:17150192|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19283854|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21270786|PMID:21400569|PMID:21462202|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22103509|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:22761994|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24375749|PMID:24459210|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26662654|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27182706|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27845687|PMID:27884249
8719462	Lmna	lamin A/C	gene	DOID:0111584	dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome		ISO	RGD:732790	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: CARDIOGENITAL SYNDROME | ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy | ClinVar Annotator: match by term: NAJJAR SYNDROME	PMID:27896284|PMID:27919367|PMID:27981572|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29431110|PMID:29438482|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29709087|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31270292|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31539150|PMID:31744510|PMID:31794942|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31931689|PMID:31977013|PMID:31980526|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32461654|PMID:32508047|PMID:32517491|PMID:32616434|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32913962|PMID:32939435|PMID:33038109|PMID:33258288|PMID:33304817|PMID:33336002|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34240052|PMID:34340952|PMID:34363016|PMID:34461741|PMID:34495297|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34872044|PMID:34935411|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35384599|PMID:35449878|PMID:35470680|PMID:35526016|PMID:35535697|PMID:35653365|PMID:35772917|PMID:35898701|PMID:36264615|PMID:36267857|PMID:36293084|PMID:36299226|PMID:36389384|PMID:36397776|PMID:36646731|PMID:36704457|PMID:36788754|PMID:36971006|PMID:36975868|PMID:37198425|PMID:37246508|PMID:37349538|PMID:37589201|PMID:37624850|PMID:37639473|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38048861|PMID:38247853|PMID:38254962|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38689299|PMID:38691546|PMID:38757491|PMID:38979608|PMID:4684700|PMID:4740717|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:0111584	dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE, WITH HYPERGONADOTROPIC HYPOGONADISM | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM | ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy | ClinVar Annotator: match by term: NAJJAR SYNDROME	PMID:10080180|PMID:10814726|PMID:10939567|PMID:11503164|PMID:11897440|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12673789|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14749366|PMID:15053843|PMID:15372542|PMID:15475483|PMID:15843404|PMID:15965218|PMID:16174718|PMID:16278265|PMID:16386954|PMID:16584978|PMID:16809772|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17711925|PMID:18035086|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18564364|PMID:18646565|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19318026|PMID:19424285|PMID:19524666|PMID:20307303|PMID:20848652|PMID:20980393|PMID:21400569|PMID:21632249|PMID:21840938|PMID:21846512|PMID:22326558|PMID:22761994|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23328570|PMID:23349452|PMID:23861362|PMID:23977161|PMID:24024053|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24794538|PMID:24990833|PMID:25163546|PMID:25210889|PMID:25448463|PMID:25741868|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26573435|PMID:27220833|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27707468|PMID:27884249|PMID:28082330|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28874324|PMID:29121657|PMID:29693488|PMID:29773157|PMID:29895224|PMID:29961767|PMID:29970176|PMID:30122538|PMID:30418556|PMID:30420677|PMID:30847666|PMID:30919684|PMID:31383942|PMID:31428229|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31980526|PMID:32004434|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32616434|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32793522|PMID:32826072|PMID:32880476|PMID:33258288|PMID:33916827|PMID:33963534|PMID:34240052|PMID:34495297|PMID:34720847|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35026164|PMID:35449878|PMID:35535697|PMID:35772917|PMID:36264615|PMID:36267857|PMID:36397776|PMID:36646731|PMID:36704457|PMID:37246508|PMID:37349538|PMID:37589201|PMID:37624850|PMID:37639473|PMID:37652022|PMID:37904629|PMID:38247853|PMID:38473809|PMID:38689299|PMID:38691546|PMID:38979608|PMID:4740717|PMID:8619549|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:10534	stomach cancer		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8719462	Lmna	lamin A/C	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732790	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:10587585|PMID:10655060|PMID:10739751|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17848409|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18926329|PMID:19220582|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21520333|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23349452|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:27000522|PMID:27153395|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27723096|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29943882|PMID:30007954|PMID:30012837|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31744510|PMID:32456328|PMID:8621584
8719462	Lmna	lamin A/C	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732790	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10587585|PMID:10655060|PMID:10739751|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17848409|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18926329|PMID:19220582|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21520333|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:27000522|PMID:27153395|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27723096|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29943882|PMID:30007954|PMID:30012837|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31744510|PMID:32376792|PMID:32456328|PMID:32880476|PMID:8621584
8719462	Lmna	lamin A/C	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732790	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17524034|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21465660|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31514951|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34363016|PMID:34680903|PMID:34768595|PMID:8621584|PMID:9500556
8719462	Lmna	lamin A/C	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732790	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia	PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31514951|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34363016|PMID:34680903|PMID:34768595|PMID:35526016|PMID:8621584|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732790	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21400569|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22761994|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31447099|PMID:31514951|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32698523|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34240052|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34975533|PMID:35526016|PMID:8621584|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732790	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21400569|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22761994|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23702046|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:2733290|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31447099|PMID:31514951|PMID:31521807|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32698523|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33038109|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34240052|PMID:34363016|PMID:34495297|PMID:34680903|PMID:34768595|PMID:34862408|PMID:34975533|PMID:35526016|PMID:8621584|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732790	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16046620|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17334235|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21400569|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22761994|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23702046|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:2733290|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30564623|PMID:30847666|PMID:30871747|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31514951|PMID:31521807|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32461654|PMID:32698523|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33038109|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34240052|PMID:34495297|PMID:34680903|PMID:34768595|PMID:34862408|PMID:34975533|PMID:8621584|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732790	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16046620|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17334235|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21400569|PMID:21462202|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22761994|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23702046|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:2733290|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29551499|PMID:29557732|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30287275|PMID:30420677|PMID:30488537|PMID:30564623|PMID:30847666|PMID:30871747|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31514951|PMID:31521807|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32461654|PMID:32698523|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33038109|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34240052|PMID:34461741|PMID:34495297|PMID:34680903|PMID:34768595|PMID:34862408|PMID:34975533|PMID:35470680|PMID:35898701|PMID:36293084|PMID:36397776|PMID:36971006|PMID:37904629|PMID:38247853|PMID:38489124|PMID:8621584|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732790	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12669268|PMID:12702809|PMID:12788894|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:15060110|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16046620|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17334235|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20497714|PMID:20625965|PMID:20662858|PMID:20848652|PMID:21400569|PMID:21462202|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22761994|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23702046|PMID:23804595|PMID:23846499|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:2733290|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29551499|PMID:29557732|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30287275|PMID:30420677|PMID:30488537|PMID:30564623|PMID:30615648|PMID:30847666|PMID:30871747|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31514951|PMID:31521807|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32461654|PMID:32698523|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33038109|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34240052|PMID:34461741|PMID:34495297|PMID:34680903|PMID:34768595|PMID:34862408|PMID:34975533|PMID:35026164|PMID:35470680|PMID:35898701|PMID:36282542|PMID:36293084|PMID:36396199|PMID:36397776|PMID:36971006|PMID:37904629|PMID:38247853|PMID:38374194|PMID:38489124|PMID:8621584|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732790	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16046620|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17334235|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21400569|PMID:21462202|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22761994|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23702046|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:2733290|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29551499|PMID:29557732|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30287275|PMID:30420677|PMID:30488537|PMID:30564623|PMID:30615648|PMID:30847666|PMID:30871747|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31514951|PMID:31521807|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32461654|PMID:32698523|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33038109|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34240052|PMID:34461741|PMID:34495297|PMID:34680903|PMID:34768595|PMID:34862408|PMID:34975533|PMID:35026164|PMID:35470680|PMID:35898701|PMID:36282542|PMID:36293084|PMID:36396199|PMID:36397776|PMID:36971006|PMID:37904629|PMID:38247853|PMID:38374194|PMID:38489124|PMID:8621584|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:11102973|PMID:12057196|PMID:12376891|PMID:12467752|PMID:12920062|PMID:14597414|PMID:15372542|PMID:15843404|PMID:15965218|PMID:16584978|PMID:17107595|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18478590|PMID:18714801|PMID:18795223|PMID:18808171|PMID:19318026|PMID:19424285|PMID:19524666|PMID:19589617|PMID:21400569|PMID:21535365|PMID:22326558|PMID:22526018|PMID:22761994|PMID:23062543|PMID:23861362|PMID:23977161|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24794538|PMID:25210889|PMID:25448463|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26602028|PMID:27532257|PMID:27650965|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28663758|PMID:28679633|PMID:28790152|PMID:29237675|PMID:29952368|PMID:30402260|PMID:30420677|PMID:30847666|PMID:31383942|PMID:31428229|PMID:31514951|PMID:31521807|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32698523|PMID:32746448|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:34240052|PMID:34862408|PMID:34975533|PMID:35026164|PMID:36138163|PMID:36282542|PMID:36396199|PMID:37347242|PMID:37904629|PMID:38247853|PMID:38374194|PMID:8621584|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:10754	otitis media		ISO	RGD:732791	D	RGD:9068941	20220825	MouseDO		OMIM:166760	
8719462	Lmna	lamin A/C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8719462	Lmna	lamin A/C	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:732790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8719462	Lmna	lamin A/C	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:25741868|PMID:28492532
8719462	Lmna	lamin A/C	gene	DOID:11712	lipoatrophic diabetes mellitus		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lipodystrophy, familial partial, 2	PMID:16636128|PMID:17576681|PMID:25741868|PMID:28492532|PMID:31194872|PMID:36397776|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	
8719462	Lmna	lamin A/C	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:732790	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:10080180|PMID:10580070|PMID:10655060|PMID:10662742|PMID:10739764|PMID:10814726|PMID:10939567|PMID:11138304|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11901143|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12649505|PMID:12673789|PMID:12748643|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15140538|PMID:15148145|PMID:15372542|PMID:15475483|PMID:15668447|PMID:15744034|PMID:15998779|PMID:16174718|PMID:16218190|PMID:16386954|PMID:16440304|PMID:16772334|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17377071|PMID:17576681|PMID:18035086|PMID:1839274|PMID:18396274|PMID:18414213|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18795223|PMID:18926329|PMID:19084400|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19882644|PMID:19933576|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20498703|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21535365|PMID:21632249|PMID:21840938|PMID:22224630|PMID:22266370|PMID:22326558|PMID:22431096|PMID:22464770|PMID:2280636|PMID:22883396|PMID:22918509|PMID:23183350|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24990833|PMID:25214167|PMID:25326637|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25948554|PMID:25987458|PMID:26098624|PMID:26183555|PMID:26332594|PMID:26443318|PMID:26467025|PMID:26602028|PMID:26752647|PMID:27220833|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27854218|PMID:27896052|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28785654|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29791652|PMID:30055862|PMID:30165862|PMID:30528549|PMID:30847666|PMID:30871747|PMID:31303467|PMID:31383942|PMID:31829210|PMID:31857427|PMID:32041611|PMID:32376792|PMID:32571898|PMID:32793522|PMID:34008892|PMID:8619549|PMID:9106535|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:732790	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11136544|PMID:11138304|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11901143|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12673789|PMID:12748643|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15140538|PMID:15148145|PMID:15372542|PMID:15475483|PMID:15668447|PMID:15744034|PMID:15843404|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16440304|PMID:16772334|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17377071|PMID:17576681|PMID:17893350|PMID:18035086|PMID:1839274|PMID:18396274|PMID:18414213|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20498703|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21535365|PMID:21632249|PMID:21840938|PMID:21846512|PMID:22224630|PMID:22266370|PMID:22326558|PMID:22431096|PMID:22464770|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23142632|PMID:23183350|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24237251|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24990833|PMID:25214167|PMID:25326637|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25948554|PMID:25987458|PMID:26098624|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26443318|PMID:26467025|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26752647|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28785654|PMID:28790152|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29693488|PMID:29791652|PMID:29895224|PMID:30055862|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:32041611|PMID:32376792|PMID:32571898|PMID:32727917|PMID:32793522|PMID:32880476|PMID:34008892|PMID:34999423|PMID:8619549|PMID:9106535|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:732790	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11897440|PMID:11901143|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12748643|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15476822|PMID:15531479|PMID:15668447|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16772334|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20498703|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23077635|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24349489|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24990833|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25326637|PMID:25343322|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25982065|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304
8719462	Lmna	lamin A/C	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:732790	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30083363|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32528171|PMID:32571898|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33250842|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34008892|PMID:34240052|PMID:34768595|PMID:34862408|PMID:34999423|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:732790	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30083363|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32455078|PMID:32475984|PMID:32528171|PMID:32571898|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33250842|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34008892|PMID:34240052|PMID:34768595|PMID:34862408|PMID:34999423|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:732790	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11897440|PMID:11901143|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12748643|PMID:12784312|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15668447|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16772334|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20498703|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23077635|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24349489|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24990833|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25326637|PMID:25343322|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25982065|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371
8719462	Lmna	lamin A/C	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:732790	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32455078|PMID:32475984|PMID:32571898|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34008892|PMID:34495297|PMID:34768595|PMID:34999423|PMID:35026164|PMID:35449878|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:732790	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29253866|PMID:29255176|PMID:29438482|PMID:29557732|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31038196|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32475984|PMID:32571898|PMID:32616434|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33963534|PMID:34008892|PMID:34240052|PMID:34340952|PMID:34495297|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37246508|PMID:37679847|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:732790	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11897440|PMID:12032588|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12784312|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16671095|PMID:16715312|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17334235|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21400569|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23702046|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24990833|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25343322|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25741916|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29253866|PMID:29255176|PMID:29438482|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368
8719462	Lmna	lamin A/C	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:732790	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32475984|PMID:32571898|PMID:32616434|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33963534|PMID:34008892|PMID:34240052|PMID:34340952|PMID:34495297|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37246508|PMID:37679847|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:732790	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12716787|PMID:12784312|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16046620|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16671095|PMID:16705075|PMID:16715312|PMID:16809772|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20530761|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21400569|PMID:21465660|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24459210|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26752647|PMID:26756202
8719462	Lmna	lamin A/C	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:732790	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27182706|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27363342|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27600705|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29057633|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29431110|PMID:29438482|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29709087|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30107846|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31019283|PMID:31127727|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31410651|PMID:31428229|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31931689|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32461654|PMID:32475984|PMID:32508047|PMID:32571898|PMID:32616434|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33038109|PMID:33070394|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33824984|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34008892|PMID:34011823|PMID:34135346|PMID:34240052|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34954454|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35291351|PMID:35387801|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35533453|PMID:35535697|PMID:35772917|PMID:35898701|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36293084|PMID:36352512|PMID:36397776|PMID:36646731|PMID:36704457|PMID:36788754|PMID:36971006|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38048861|PMID:38247853|PMID:38254962|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38691546|PMID:4740717|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:732790	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12716787|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15219508|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15476822|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16046620|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16671095|PMID:16705075|PMID:16715312|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20530761|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20837309|PMID:20848652|PMID:20980393|PMID:21173262|PMID:21270786|PMID:21315846|PMID:21400569|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24459210|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900
8719462	Lmna	lamin A/C	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:732790	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:26443318|PMID:26467025|PMID:26498160|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27182706|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27363342|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:27981572|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29431110|PMID:29438482|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29709087|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30083363|PMID:30107846|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31019283|PMID:31127727|PMID:31194872|PMID:31296869|PMID:31303467|PMID:31383942|PMID:31410651|PMID:31428229|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31794942|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31931689|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32461654|PMID:32508047|PMID:32517491|PMID:32528171|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32913962|PMID:32939435|PMID:33038109|PMID:33070394|PMID:33250842|PMID:33258288|PMID:33304817|PMID:33336002|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33824984|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34008892|PMID:34011823|PMID:34135346|PMID:34240052|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34872044|PMID:34935411|PMID:34954454|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35291351|PMID:35384599|PMID:35387801|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35533453|PMID:35535697|PMID:35653365|PMID:35772917|PMID:35898701|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36293084|PMID:36299226|PMID:36352512|PMID:36389384|PMID:36397776|PMID:36646731|PMID:36704457|PMID:36788754|PMID:36971006|PMID:36975868|PMID:37198425|PMID:37246508|PMID:37349538|PMID:37589201|PMID:37624850|PMID:37639473|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38048861|PMID:38247853|PMID:38254962|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38689299|PMID:38691546|PMID:38757491|PMID:38979608|PMID:4740717|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:732790	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11897440|PMID:12057196|PMID:12467752|PMID:12524233|PMID:12629077|PMID:12647844|PMID:12927431|PMID:14615128|PMID:14749366|PMID:15476822|PMID:15965218|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16415042|PMID:16772334|PMID:17377071|PMID:17576681|PMID:17711925|PMID:17893350|PMID:18035086|PMID:18396274|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19418082|PMID:19589617|PMID:19859838|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20498703|PMID:20625965|PMID:20837309|PMID:20848652|PMID:20980393|PMID:21520333|PMID:21535365|PMID:21846512|PMID:22326558|PMID:22464770|PMID:22700598|PMID:23077635|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23853504|PMID:24033266|PMID:24349489|PMID:24375749|PMID:24508248|PMID:24623722|PMID:24642510|PMID:25326637|PMID:25351510|PMID:25637381|PMID:25741868|PMID:25982065|PMID:26098624|PMID:26392352|PMID:26467025|PMID:26573435|PMID:26662654|PMID:26688388|PMID:27374873|PMID:27506821|PMID:27650965|PMID:27813223|PMID:27884249|PMID:28082330|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28790152|PMID:29121657|PMID:29237675|PMID:29255176|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29773157|PMID:29893365|PMID:29952368|PMID:30083363|PMID:30122538|PMID:30165155|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30847666|PMID:31194872|PMID:31264968|PMID:31383942|PMID:31447099|PMID:31514951|PMID:31521807|PMID:31744510|PMID:31836692|PMID:31980526|PMID:31983221|PMID:32041611|PMID:32376792|PMID:32455078|PMID:32528171|PMID:32571898|PMID:32727917|PMID:32818388|PMID:32880476|PMID:33250842|PMID:33407844|PMID:33502018|PMID:33803652|PMID:33893211|PMID:33963534|PMID:34240052|PMID:34340952|PMID:34495297|PMID:34768595|PMID:34862408|PMID:34865644|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35533453|PMID:35772917|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36397776|PMID:36646731|PMID:37198425|PMID:37246508|PMID:37349538|PMID:37589201|PMID:37679847|PMID:38254962|PMID:38374194|PMID:38473809|PMID:38691546|PMID:39550450|PMID:4740717|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:10080180|PMID:10580070|PMID:10814726|PMID:10939567|PMID:11102973|PMID:11503164|PMID:11561226|PMID:11897440|PMID:12057196|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12673789|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14749366|PMID:15053843|PMID:15372542|PMID:15475483|PMID:15476822|PMID:15843404|PMID:15965218|PMID:16174718|PMID:16199547|PMID:16278265|PMID:16386954|PMID:16584978|PMID:16772334|PMID:16809772|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17711925|PMID:18035086|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19318026|PMID:19424285|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19882644|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20498703|PMID:20837309|PMID:20848652|PMID:20980393|PMID:21315846|PMID:21400569|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21840938|PMID:21846512|PMID:22326558|PMID:22464770|PMID:22761994|PMID:22806367|PMID:23062543|PMID:23077635|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23328570|PMID:23349452|PMID:2336251|PMID:23362510|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23861362|PMID:23977161|PMID:24024053|PMID:24033266|PMID:24237251|PMID:24349489|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24794538|PMID:24990833|PMID:25163546|PMID:25210889|PMID:25326637|PMID:25351510|PMID:25448463|PMID:25741868|PMID:25982065|PMID:26098624|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26573435|PMID:26602028|PMID:26688388|PMID:27220833|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27707468|PMID:27813223|PMID:27884249|PMID:28082330|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28874324|PMID:29121657|PMID:29237675|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29773157|PMID:29893365|PMID:29895224|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30078822|PMID:30083363|PMID:30122538|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30847666|PMID:30919684|PMID:31383942|PMID:31402444|PMID:31428229|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31668660|PMID:31744510|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32528171|PMID:32571898|PMID:32616434|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33250842|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34240052|PMID:34495297|PMID:34720847|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35026164|PMID:35352813|PMID:35449878|PMID:35533453|PMID:35535697|PMID:35772917|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36397776|PMID:36646731|PMID:36704457|PMID:37246508|PMID:37349538|PMID:37589201|PMID:37624850|PMID:37639473|PMID:37652022|PMID:37904629|PMID:38247853|PMID:38374194|PMID:38473809|PMID:38689299|PMID:38691546|PMID:38979608|PMID:4740717|PMID:8619549|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:11830	myopia		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:12920062|PMID:16199547|PMID:17334235|PMID:17377071|PMID:18035086|PMID:18414213|PMID:18585512|PMID:18795223|PMID:18926329|PMID:19318026|PMID:20301609|PMID:21179469|PMID:21846512|PMID:22326558|PMID:23701190|PMID:24386194|PMID:25741868|PMID:26688388|PMID:27532257|PMID:27813223|PMID:28492532|PMID:29432544|PMID:31383942|PMID:31402444|PMID:31514951|PMID:32021920|PMID:32083564|PMID:32880476|PMID:34768595|PMID:35887646
8719462	Lmna	lamin A/C	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:17377071|PMID:18551513|PMID:20160190|PMID:20980393|PMID:21632249|PMID:24033266|PMID:25741868|PMID:28492532
8719462	Lmna	lamin A/C	gene	DOID:1287	cardiovascular system disease		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:10580070|PMID:11561226|PMID:16199547|PMID:18035086|PMID:18585512|PMID:18606848|PMID:18795223|PMID:18926329|PMID:20160190|PMID:20301717|PMID:21846512|PMID:22326558|PMID:22464770|PMID:23427149|PMID:23582089|PMID:24033266|PMID:25741868|PMID:26688388|PMID:27374873|PMID:27813223|PMID:28492532|PMID:31383942|PMID:31514951|PMID:31983221|PMID:32455078
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12075506|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14627682|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:32004434|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32880476|PMID:32943904|PMID:33673806|PMID:34213952|PMID:8621584
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29693488|PMID:29791652|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968|PMID:31303467|PMID:31383942
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31857427|PMID:31977013|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32746448|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33673806|PMID:34213952|PMID:35535697|PMID:8621584
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29693488|PMID:29791652|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:31303467|PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31857427|PMID:31977013|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32746448|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33673806|PMID:34213952|PMID:34773379|PMID:35535697|PMID:8621584
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29693488|PMID:29791652|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968|PMID:31303467
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31857427|PMID:31977013|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32746448|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33673806|PMID:34213952|PMID:34773379|PMID:35535697|PMID:8621584
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21465660|PMID:21479595|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33673806|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25326637|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32455078|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230815	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230815	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32455078|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35526016|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32455078|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35526016|PMID:35535697|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31410651|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32455078|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34495297|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35535697|PMID:36397776|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31410651|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32455078|PMID:32458740|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34495297|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35535697|PMID:35772917|PMID:36267857|PMID:36397776|PMID:36646731|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29557732|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31042466|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31410651|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32455078|PMID:32458740|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34621001|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35291351|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:36178741|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37246508|PMID:37679847|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32939435|PMID:32943904|PMID:33029862|PMID:33038109|PMID:33258288|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34292171|PMID:34317510|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34621001|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35291351|PMID:35384599|PMID:35434999|PMID:35449878|PMID:35470684|PMID:35526016|PMID:35528128|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35887646|PMID:36111332|PMID:36178741|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36397776|PMID:36646731|PMID:37178278|PMID:37246508|PMID:37589201|PMID:37679847|PMID:4740717|PMID:8344919|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12854972|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15219508|PMID:15286156|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15843404|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16046620|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16825282|PMID:16965317|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18337098|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20074070|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20590677|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21400569|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21970986|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23483212|PMID:23497705
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23757202|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25319090|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25569433|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26183555|PMID:26199943|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27235420|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28118183|PMID:28123761|PMID:28125586|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:28987496|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29557732|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29907918|PMID:29943882|PMID:29947763|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30008018|PMID:30012837|PMID:30055862|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30199159|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31208058|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31378009|PMID:31383942|PMID:31402444|PMID:31410651|PMID:31428229|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31527676|PMID:31744510|PMID:31794942|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31957533|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32021920|PMID:32041611|PMID:32041989|PMID:32083564|PMID:32155092|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32458740|PMID:32461654|PMID:32517491|PMID:32528171|PMID:32571898|PMID:32616434|PMID:32666643
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32939435|PMID:32943904|PMID:33029862|PMID:33038109|PMID:33258288|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34292171|PMID:34317510|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34621001|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35291351|PMID:35384599|PMID:35434999|PMID:35449878|PMID:35470684|PMID:35526016|PMID:35528128|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35887646|PMID:36111332|PMID:36178741|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36397776|PMID:36646731|PMID:37178278|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:4740717|PMID:8344919|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:32517491|PMID:32528171|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32939435|PMID:32943904|PMID:33029862|PMID:33038109|PMID:33258288|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34292171|PMID:34317510|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34621001|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35291351|PMID:35384599|PMID:35434999|PMID:35449878|PMID:35470684|PMID:35526016|PMID:35528128|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35887646|PMID:36111332|PMID:36178741|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36397776|PMID:36646731|PMID:37178278|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:4740717|PMID:8344919|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12854972|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15219508|PMID:15286156|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15843404|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16046620|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16825282|PMID:16965317|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18337098|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20074070|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20590677|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21400569|PMID:21462202|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21970986|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:23427149|PMID:23483212|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23757202|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24459210|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25319090|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25569433|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26183555|PMID:26199943|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27235420|PMID:2733290|PMID:27332903|PMID:27363342|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28118183|PMID:28123761|PMID:28125586|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28425981|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:28987496|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29557732|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29907918|PMID:29943882|PMID:29947763|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30008018|PMID:30012837|PMID:30055862|PMID:30107846|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30199159|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:31006814|PMID:31019283|PMID:31127727|PMID:31194872|PMID:31208058|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31378009|PMID:31383942|PMID:31402444|PMID:31410651|PMID:31428229|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31527676|PMID:31744510|PMID:31794942|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31931689|PMID:31957533|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32021920|PMID:32041611|PMID:32041989|PMID:32083564|PMID:32155092|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32413188
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:32455078|PMID:32456328|PMID:32458740|PMID:32461654|PMID:32517491|PMID:32528171|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32913962|PMID:32939435|PMID:32943904|PMID:33029862|PMID:33038109|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34292171|PMID:34317510|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34621001|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35291351|PMID:35384599|PMID:35434999|PMID:35449878|PMID:35470684|PMID:35526016|PMID:35528128|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35887646|PMID:36111332|PMID:36178741|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36397776|PMID:36646731|PMID:36704457|PMID:36732629|PMID:36971006|PMID:37178278|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:4740717|PMID:8344919|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12854972|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15219508|PMID:15286156|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15843404|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16046620|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16825282|PMID:16965317|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17605093|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18337098|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20074070|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20590677|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21400569|PMID:21462202|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21970986|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23483212|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23757202|PMID:23775434|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24459210|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25319090|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25569433|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26183555|PMID:26199943|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27235420|PMID:2733290|PMID:27332903|PMID:27363342|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28118183|PMID:28123761|PMID:28125586|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28425981|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:28987496|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29557732|PMID:29618840|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29709087|PMID:29753763|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29907918|PMID:29943882|PMID:29947763|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30008018|PMID:30012837|PMID:30055862|PMID:30107846|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30199159|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30739589|PMID:30765282|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:31006814|PMID:31019283|PMID:31127727|PMID:31194872|PMID:31208058|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31378009|PMID:31383942|PMID:31402444|PMID:31410651|PMID:31428229|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31527676|PMID:31744510|PMID:31794942|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31931689|PMID:31957533|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:32021920|PMID:32041611|PMID:32041989|PMID:32083564|PMID:32155092|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32458740|PMID:32461654|PMID:32517491|PMID:32528171|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32695585|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32913962|PMID:32939435|PMID:32943904|PMID:33029862|PMID:33038109|PMID:33070394|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33824984|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34292171|PMID:34317510|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34621001|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34954454|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35288587|PMID:35291351|PMID:35384599|PMID:35387801|PMID:35434999|PMID:35449878|PMID:35470684|PMID:35526016|PMID:35528128|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35887646|PMID:36111332|PMID:36178741|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36352512|PMID:36397776|PMID:36646731|PMID:36704457|PMID:36732629|PMID:36971006|PMID:37178278|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:37904629|PMID:38048861|PMID:38247853|PMID:38489124|PMID:38691546|PMID:4740717|PMID:8344919|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12854972|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15219508|PMID:15286156|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15843404|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16046620|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16705075|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16825282|PMID:16965317|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17605093|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18337098|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20074070|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20590677|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21400569|PMID:21462202|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21970986|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23483212|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23757202|PMID:23775434|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24459210|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25319090|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25569433|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26183555|PMID:26199943|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27235420|PMID:2733290|PMID:27332903|PMID:27363342|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27697855|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28118183|PMID:28123761|PMID:28125586|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28425981|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28987496|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29431110|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29618840|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29709087|PMID:29753763|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29907918|PMID:29943882|PMID:29947763|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30008018|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30107846|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30199159|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30739589|PMID:30765282|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:31006814|PMID:31019283|PMID:31127727|PMID:31194872|PMID:31208058|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31378009|PMID:31383942|PMID:31402444|PMID:31410651|PMID:31428229|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31527676|PMID:31744510|PMID:31794942|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31931689|PMID:31957533
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32021920|PMID:32041611|PMID:32041989|PMID:32083564|PMID:32155092|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32458740|PMID:32461654|PMID:32508047|PMID:32517491|PMID:32528171|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32695585|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32913962|PMID:32939435|PMID:32943904|PMID:33029862|PMID:33038109|PMID:33070394|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33824984|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34292171|PMID:34317510|PMID:34340952|PMID:34363016|PMID:34461741|PMID:34495297|PMID:34621001|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34954454|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35288587|PMID:35291351|PMID:35384599|PMID:35387801|PMID:35434999|PMID:35449878|PMID:35470680|PMID:35470684|PMID:35526016|PMID:35528128|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35887646|PMID:35898701|PMID:36111332|PMID:36178741|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36293084|PMID:36352512|PMID:36397776|PMID:36548481|PMID:36646731|PMID:36704457|PMID:36732629|PMID:36971006|PMID:37178278|PMID:37246508|PMID:37387251|PMID:37589201|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38048861|PMID:38247853|PMID:38473809|PMID:38489124|PMID:38691546|PMID:38837338|PMID:38979608|PMID:4740717|PMID:8344919|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23483212|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23757202|PMID:23775434|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24459210|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25319090|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25569433|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26183555|PMID:26199943|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27235420|PMID:2733290|PMID:27332903|PMID:27363342|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27697855|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28118183|PMID:28123761|PMID:28125586|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28425981|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28987496|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29431110|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29618840|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29709087|PMID:29753763|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29907918|PMID:29943882|PMID:29947763|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30008018|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30107846|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30199159|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30739589|PMID:30765282|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:31006814|PMID:31019283|PMID:31127727|PMID:31194872|PMID:31208058|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31378009|PMID:31383942|PMID:31402444|PMID:31410651|PMID:31428229|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31527676|PMID:31744510|PMID:31794942|PMID:31829210
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:31836692|PMID:31857427|PMID:31931689|PMID:31957533|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32021920|PMID:32041611|PMID:32041989|PMID:32083564|PMID:32155092|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32458740|PMID:32461654|PMID:32508047|PMID:32517491|PMID:32528171|PMID:32571898|PMID:32616434|PMID:32657593|PMID:32666643|PMID:32685188|PMID:32695585|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32913962|PMID:32939435|PMID:32943904|PMID:33029862|PMID:33038109|PMID:33070394|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33824984|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34292171|PMID:34317510|PMID:34340952|PMID:34363016|PMID:34461741|PMID:34495297|PMID:34621001|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34954454|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35288587|PMID:35291351|PMID:35384599|PMID:35387801|PMID:35434999|PMID:35449878|PMID:35470680|PMID:35470684|PMID:35526016|PMID:35528128|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35887646|PMID:35898701|PMID:36111332|PMID:36178741|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36293084|PMID:36325899|PMID:36352512|PMID:36397776|PMID:36526864|PMID:36548481|PMID:36646731|PMID:36704457|PMID:36732629|PMID:36788754|PMID:36971006|PMID:37178278|PMID:37246508|PMID:37349538|PMID:37387251|PMID:37589201|PMID:37624850|PMID:37639473|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38048861|PMID:38247853|PMID:38254962|PMID:38374194|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38689299|PMID:38691546|PMID:38837338|PMID:38979608|PMID:39825153|PMID:4740717|PMID:8344919|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:31836692|PMID:31857427|PMID:31931689|PMID:31957533|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32021920|PMID:32041611|PMID:32041989|PMID:32083564|PMID:32155092|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32408651|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32458740|PMID:32461654|PMID:32508047|PMID:32517491|PMID:32528171|PMID:32571898|PMID:32616434|PMID:32657593|PMID:32666643|PMID:32685188|PMID:32695585|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32913962|PMID:32939435|PMID:32943904|PMID:33029862|PMID:33038109|PMID:33070394|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33824984|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34292171|PMID:34317510|PMID:34340952|PMID:34363016|PMID:34461741|PMID:34495297|PMID:34621001|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34872044|PMID:34935411|PMID:34954454|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35288587|PMID:35291351|PMID:35384599|PMID:35387801|PMID:35434999|PMID:35449878|PMID:35470680|PMID:35470684|PMID:35526016|PMID:35528128|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35887646|PMID:35898701|PMID:36111332|PMID:36178741|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36293084|PMID:36299226|PMID:36325899|PMID:36352512|PMID:36389384|PMID:36396199|PMID:36397776|PMID:36526864|PMID:36548481|PMID:36646731|PMID:36704457|PMID:36732629|PMID:36788754|PMID:36971006|PMID:37178278|PMID:37246508|PMID:37349538|PMID:37387251|PMID:37589201|PMID:37624850|PMID:37639473|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38048861|PMID:38247853|PMID:38254962|PMID:38374194|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38689299|PMID:38691546|PMID:38837338|PMID:38979608|PMID:39825153|PMID:4740717|PMID:8344919|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12854972|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15219508|PMID:15286156|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15843404|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15996213|PMID:15998779|PMID:16046620|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16705075|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16825282|PMID:16965317|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17605093|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18337098|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18611980|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20074070|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20590677|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21270786|PMID:21315846|PMID:21346069|PMID:21400569|PMID:21462202|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21970986|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23483212|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23757202|PMID:23775434|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24459210|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25319090|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25569433|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26183555|PMID:26199943|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27235420|PMID:2733290|PMID:27332903|PMID:27363342|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27697855|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:27981572|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28118183|PMID:28123761|PMID:28125586|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28425981|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28987496|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29431110|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29618840|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29709087|PMID:29753763|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29907918|PMID:29943882|PMID:29947763|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30008018|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30107846|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30199159|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30739589|PMID:30765282|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:31006814|PMID:31019283|PMID:31127727|PMID:31194872|PMID:31208058|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31378009|PMID:31383942|PMID:31402444|PMID:31410651|PMID:31428229|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31527676|PMID:31744510|PMID:31794942
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:31829210|PMID:31836692|PMID:31857427|PMID:31931689|PMID:31957533|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32021920|PMID:32041611|PMID:32041989|PMID:32083564|PMID:32155092|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32408651|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32458740|PMID:32461654|PMID:32508047|PMID:32517491|PMID:32528171|PMID:32571898|PMID:32616434|PMID:32657593|PMID:32666643|PMID:32685188|PMID:32695585|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32913962|PMID:32939435|PMID:32943904|PMID:33029862|PMID:33038109|PMID:33070394|PMID:33258288|PMID:33304817|PMID:33336002|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33824984|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34292171|PMID:34317510|PMID:34340952|PMID:34363016|PMID:34461741|PMID:34495297|PMID:34621001|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34872044|PMID:34935411|PMID:34954454|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35288587|PMID:35291351|PMID:35384599|PMID:35387801|PMID:35434999|PMID:35449878|PMID:35470680|PMID:35470684|PMID:35526016|PMID:35528128|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35887646|PMID:35898701|PMID:36111332|PMID:36178741|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36293084|PMID:36299226|PMID:36325899|PMID:36352512|PMID:36389384|PMID:36396199|PMID:36397776|PMID:36526864|PMID:36548481|PMID:36646731|PMID:36704457|PMID:36732629|PMID:36788754|PMID:36971006|PMID:36975868|PMID:37178278|PMID:37198425|PMID:37246508|PMID:37349538|PMID:37387251|PMID:37589201|PMID:37624850|PMID:37639473|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38048861|PMID:38247853|PMID:38254962|PMID:38374194|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38689299|PMID:38691546|PMID:38757491|PMID:38837338|PMID:38979608|PMID:39825153|PMID:4740717|PMID:8344919|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15184648|PMID:15219508|PMID:15317753|PMID:15342704|PMID:15473259|PMID:15539782|PMID:15793835|PMID:15965218|PMID:15982412|PMID:16046620|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16537768|PMID:16738054|PMID:16809772|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17576681|PMID:17711925|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18396274|PMID:18414213|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19172989|PMID:19201734|PMID:19220582|PMID:19418082|PMID:19589617|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21179469|PMID:21251803|PMID:21346069|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21970986|PMID:22148005|PMID:22177269|PMID:22199124|PMID:22326558|PMID:22464770|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22893709|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23427149|PMID:23582089|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23969228|PMID:24033266|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:25163546|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25498755|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25819867|PMID:25823658|PMID:25946677|PMID:25988045|PMID:26199943|PMID:26383716|PMID:26467025|PMID:26573435|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26899768|PMID:27111165|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27813223|PMID:27884249|PMID:27886618|PMID:28082330|PMID:28349240|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28759816|PMID:28790152|PMID:28790155|PMID:28878338|PMID:29095976|PMID:29121657|PMID:29237675|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29382405|PMID:29557732|PMID:29693488|PMID:29773157|PMID:29907918|PMID:29943882|PMID:29947763|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30008018|PMID:30012837|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30488537|PMID:30775854|PMID:30847666|PMID:30911407|PMID:31006814|PMID:31194872|PMID:31264968|PMID:31383942|PMID:31410651|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31527676|PMID:31744510|PMID:31836692|PMID:31957533|PMID:31980526|PMID:31983221|PMID:32041611|PMID:32041989|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32727917|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32917565|PMID:32943904|PMID:33038109|PMID:33070394|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:33803652|PMID:33824984|PMID:33893211|PMID:33963534|PMID:34135346|PMID:34213952|PMID:34292171|PMID:34340952|PMID:34363016|PMID:34621001|PMID:34680903|PMID:34768595|PMID:34862408|PMID:34865644|PMID:34954454|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35291351|PMID:35387801|PMID:35434999|PMID:35449878|PMID:35528128|PMID:35581137|PMID:35653365|PMID:35772917|PMID:36138163|PMID:36178741|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36325899|PMID:36352512|PMID:36396199|PMID:36397776|PMID:36472615|PMID:36646731|PMID:37178278|PMID:37198425|PMID:37246508|PMID:37347242|PMID:37349538|PMID:37589201|PMID:37624850|PMID:37679847|PMID:38048861|PMID:38254962|PMID:38374194|PMID:38473809|PMID:38476290|PMID:38691546|PMID:38837338|PMID:39001760|PMID:39145700|PMID:39550450|PMID:39825153|PMID:4740717|PMID:8621584|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927431|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15219508|PMID:15473259|PMID:15539782|PMID:15793835|PMID:15965218|PMID:15982412|PMID:16046620|PMID:16061563|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16537768|PMID:16809772|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17459035|PMID:17459069|PMID:17511383|PMID:17576681|PMID:17711925|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18396274|PMID:18414213|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19172989|PMID:19201734|PMID:19220582|PMID:19418082|PMID:19589617|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21179469|PMID:21251803|PMID:21346069|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21970986|PMID:22148005|PMID:22177269|PMID:22199124|PMID:22326558|PMID:22464770|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22893709|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23427149|PMID:23582089|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23969228|PMID:24033266|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:25163546|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25498755|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25819867|PMID:25823658|PMID:25946677|PMID:25988045|PMID:26199943|PMID:26383716|PMID:26467025|PMID:26573435|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26899768|PMID:27111165|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27813223|PMID:27884249|PMID:27886618|PMID:28082330|PMID:28349240|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28759816|PMID:28790152|PMID:28790155|PMID:28878338|PMID:29095976|PMID:29121657|PMID:29237675|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29382405|PMID:29557732|PMID:29693488|PMID:29773157|PMID:29907918|PMID:29943882|PMID:29947763|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30008018|PMID:30012837|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30488537|PMID:30775854|PMID:30847666|PMID:30911407|PMID:31006814|PMID:31194872|PMID:31264968|PMID:31383942|PMID:31410651|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31527676|PMID:31744510|PMID:31836692|PMID:31957533|PMID:31980526|PMID:31983221|PMID:32041611|PMID:32041989|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32727917|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32917565|PMID:32943904|PMID:33038109|PMID:33070394|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33803652|PMID:33824984|PMID:33893211|PMID:33963534|PMID:34135346|PMID:34213952|PMID:34292171|PMID:34340952|PMID:34363016
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:34621001|PMID:34680903|PMID:34768595|PMID:34862408|PMID:34865644|PMID:34954454|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35291351|PMID:35387801|PMID:35434999|PMID:35449878|PMID:35528128|PMID:35581137|PMID:35653365|PMID:35772917|PMID:36138163|PMID:36178741|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36325899|PMID:36352512|PMID:36396199|PMID:36397776|PMID:36472615|PMID:36646731|PMID:37178278|PMID:37198425|PMID:37246508|PMID:37347242|PMID:37349538|PMID:37589201|PMID:37624850|PMID:37679847|PMID:38048861|PMID:38254962|PMID:38374194|PMID:38473809|PMID:38476290|PMID:38691546|PMID:38837338|PMID:39001760|PMID:39145700|PMID:39550450|PMID:4740717|PMID:8621584|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10810087|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11897440|PMID:12057196|PMID:12467752|PMID:12524233|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12927431|PMID:14607793|PMID:14615128|PMID:14749366|PMID:15219508|PMID:15539782|PMID:15793835|PMID:15965218|PMID:15982412|PMID:16061563|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16364671|PMID:16415042|PMID:16537768|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17459035|PMID:17459069|PMID:17511383|PMID:17576681|PMID:17711925|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18396274|PMID:18414213|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19172989|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19418082|PMID:19589617|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20580717|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21179469|PMID:21251803|PMID:21346069|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21970986|PMID:22148005|PMID:22177269|PMID:22199124|PMID:22326558|PMID:22464770|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22893709|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23427149|PMID:23582089|PMID:23701190|PMID:23702046|PMID:23853504|PMID:23969228|PMID:24033266|PMID:24037902|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:25163546|PMID:25351510|PMID:25469153|PMID:25498755|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25819867|PMID:25946677|PMID:25988045|PMID:26199943|PMID:26383716|PMID:26467025|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26899768|PMID:27111165|PMID:27301336|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27813223|PMID:27884249|PMID:27886618|PMID:28082330|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28759816|PMID:28790152|PMID:28790155|PMID:28878338|PMID:29095976|PMID:29121657|PMID:29237675|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29382405|PMID:29693488|PMID:29773157|PMID:29907918|PMID:29943882|PMID:29947763|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30008018|PMID:30012837|PMID:30122538|PMID:30165155|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30488537|PMID:30775854|PMID:30847666|PMID:30911407|PMID:31006814|PMID:31194872|PMID:31264968|PMID:31383942|PMID:31434876|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31527676|PMID:31744510|PMID:31836692|PMID:31957533|PMID:31980526|PMID:31983221|PMID:32041611|PMID:32041989|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32727917|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32917565|PMID:32943904|PMID:33407844|PMID:33502018|PMID:33803652|PMID:33893211|PMID:33963534|PMID:34213952|PMID:34292171|PMID:34340952|PMID:34495297|PMID:34621001|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34865644|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35284542|PMID:35291351|PMID:35434999|PMID:35449878|PMID:35528128|PMID:35581137|PMID:35653365|PMID:35772917|PMID:36138163|PMID:36178741|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36325899|PMID:36396199|PMID:36397776|PMID:36472615|PMID:36646731|PMID:37178278|PMID:37198425|PMID:37246508|PMID:37347242|PMID:37349538
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:37589201|PMID:37624850|PMID:37679847|PMID:38254962|PMID:38374194|PMID:38473809|PMID:38476290|PMID:38691546|PMID:38837338|PMID:39001760|PMID:39145700|PMID:39550450|PMID:39829337|PMID:4740717|PMID:8621584|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:10080180|PMID:10580070|PMID:10662742|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102973|PMID:11138304|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11897440|PMID:12057196|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15372542|PMID:15724423|PMID:15793835|PMID:15843404|PMID:15965218|PMID:15982412|PMID:16061563|PMID:16156025|PMID:16174718|PMID:16199547|PMID:16218190|PMID:16386954|PMID:16584978|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17459035|PMID:17459069|PMID:17511383|PMID:17576681|PMID:17711925|PMID:17967828|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19070492|PMID:19167105|PMID:19172989|PMID:19220582|PMID:19318026|PMID:19424285|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19875404|PMID:19882644|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20580717|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21400569|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21970986|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22224630|PMID:22266370|PMID:22326558|PMID:22464770|PMID:22611635|PMID:22685055|PMID:22761994|PMID:22806367|PMID:22893709|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23328570|PMID:23349452|PMID:23360689|PMID:2336251|PMID:23362510|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23702046|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24033266|PMID:24037902|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24794538|PMID:24846508|PMID:24915601|PMID:24990833|PMID:25163546|PMID:25210889|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25498755|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25569433|PMID:25741868|PMID:25819867|PMID:25946677|PMID:25948554|PMID:25987458|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26670336|PMID:26688388|PMID:26743238|PMID:27111165|PMID:27220833|PMID:27301336|PMID:27363342|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27854218|PMID:27884249|PMID:27886618|PMID:28082330|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28759816|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28878338|PMID:29057633|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29247119|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29693488|PMID:29709087|PMID:29773157|PMID:29895224|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30008018|PMID:30012837|PMID:30078822|PMID:30107846|PMID:30122538|PMID:30165862|PMID:30178466|PMID:30287275|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30488537|PMID:30528549|PMID:30739589|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30975432|PMID:31006814|PMID:31127727|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31402444|PMID:31428229|PMID:31434876|PMID:31453089|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31527676|PMID:31668660|PMID:31744510|PMID:31829210|PMID:31912959|PMID:31957533|PMID:31980526|PMID:31983221|PMID:32021920|PMID:32041611|PMID:32083564|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32698523|PMID:32727917
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:32746448|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32917565|PMID:32943904|PMID:33407844|PMID:33502018|PMID:33887581|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34292171|PMID:34495297|PMID:34621001|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34808346|PMID:34862408|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35284542|PMID:35352813|PMID:35434999|PMID:35449878|PMID:35528128|PMID:35581137|PMID:35653365|PMID:35714719|PMID:35772917|PMID:35887646|PMID:36138163|PMID:36178741|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36325899|PMID:36396199|PMID:36397776|PMID:36472615|PMID:36526864|PMID:36646731|PMID:37178278|PMID:37246508|PMID:37347242|PMID:37349538|PMID:37589201|PMID:37624850|PMID:37639473|PMID:37652022|PMID:37904629|PMID:38247853|PMID:38374194|PMID:38473809|PMID:38476290|PMID:38689299|PMID:38691546|PMID:38837338|PMID:38979608|PMID:39001760|PMID:39145700|PMID:39829337|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:12930	dilated cardiomyopathy	severity	ISO	RGD:732790	D	RGD:9068941	20200609	RGD		DNA:missense mutations, deletion:cds:multiple (human)	PMID:12628721|REF_RGD_ID:1580515
8719462	Lmna	lamin A/C	gene	DOID:13884	sick sinus syndrome		ISO	RGD:732790	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Sick sinus syndrome	PMID:25741868|PMID:27182706|PMID:29947763|PMID:31847799|PMID:34831398
8719462	Lmna	lamin A/C	gene	DOID:1389	polyneuropathy		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:28492532
8719462	Lmna	lamin A/C	gene	DOID:1909	melanoma		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8719462	Lmna	lamin A/C	gene	DOID:2030	anxiety disorder		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:12920062|PMID:17334235|PMID:17377071|PMID:18414213|PMID:18795223|PMID:18926329|PMID:19318026|PMID:20301609|PMID:21179469|PMID:23701190|PMID:24386194|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29432544|PMID:31402444|PMID:31514951|PMID:32021920|PMID:32083564|PMID:32880476|PMID:34768595|PMID:35887646
8719462	Lmna	lamin A/C	gene	DOID:224	transient cerebral ischemia		ISO	RGD:620456	D	RGD:9068941	20200609	RGD			PMID:17683050|REF_RGD_ID:2293745
8719462	Lmna	lamin A/C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8719462	Lmna	lamin A/C	gene	DOID:2340	craniosynostosis		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:10080180|PMID:14749366|PMID:18396274|PMID:20980393|PMID:22326558|PMID:24642510|PMID:25741868|PMID:28492532|PMID:28663758|PMID:31383942|PMID:37349538
8719462	Lmna	lamin A/C	gene	DOID:2349	arteriosclerosis		ISO	RGD:620456	D	RGD:9068941	20200609	RGD		protein:increased expression:aorta	PMID:16620292|REF_RGD_ID:2302364
8719462	Lmna	lamin A/C	gene	DOID:2841	asthma		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:10580070|PMID:11561226|PMID:16199547|PMID:18035086|PMID:18585512|PMID:18606848|PMID:18795223|PMID:18926329|PMID:20160190|PMID:20301717|PMID:21846512|PMID:22326558|PMID:22464770|PMID:23427149|PMID:23582089|PMID:24033266|PMID:25741868|PMID:26688388|PMID:27374873|PMID:27813223|PMID:28492532|PMID:31383942|PMID:31514951|PMID:31983221|PMID:32455078
8719462	Lmna	lamin A/C	gene	DOID:2843	long QT syndrome		ISO	RGD:732790	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:10580070|PMID:11102973|PMID:12920062|PMID:17334235|PMID:18414213|PMID:18795223|PMID:18926329|PMID:19318026|PMID:23701190|PMID:24386194|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28686329|PMID:29237675|PMID:29432544|PMID:29952368|PMID:32818388|PMID:33407844
8719462	Lmna	lamin A/C	gene	DOID:2843	long QT syndrome		ISO	RGD:732790	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	PMID:10580070|PMID:11102973|PMID:25741868|PMID:28492532|PMID:28686329|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844
8719462	Lmna	lamin A/C	gene	DOID:2843	long QT syndrome		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12768443|PMID:12920062|PMID:17334235|PMID:17377071|PMID:18041775|PMID:18414213|PMID:18585512|PMID:18646565|PMID:18795223|PMID:18926329|PMID:19318026|PMID:20160190|PMID:20301609|PMID:21179469|PMID:22177269|PMID:23183350|PMID:23582089|PMID:23701190|PMID:24033266|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:25569433|PMID:25741868|PMID:26467025|PMID:27532257|PMID:28492532|PMID:28663758|PMID:29095976|PMID:29432544|PMID:29943882|PMID:31402444|PMID:31514951|PMID:31983221|PMID:32021920|PMID:32083564|PMID:32880476|PMID:34768595|PMID:35026164|PMID:35887646|PMID:36472615|PMID:39145700
8719462	Lmna	lamin A/C	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:732790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19381893
8719462	Lmna	lamin A/C	gene	DOID:3911	progeria		ISO	RGD:732790	D	RGD:7240710	20180130	OMIM			
8719462	Lmna	lamin A/C	gene	DOID:3911	progeria		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HUTCHINSON-GILFORD PROGERIA SYNDROME | ClinVar Annotator: match by term: HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL | ClinVar Annotator: match by term: Hutchinson-Gilford syndrome	PMID:10080180|PMID:10580070|PMID:10814726|PMID:10939567|PMID:11102973|PMID:11503164|PMID:11561226|PMID:11897440|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14749366|PMID:15053843|PMID:15219508|PMID:15317753|PMID:15372542|PMID:15475483|PMID:15793835|PMID:15843404|PMID:15965218|PMID:15982412|PMID:16174718|PMID:16199547|PMID:16278265|PMID:16386954|PMID:16584978|PMID:16809772|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17377071|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17576681|PMID:17711925|PMID:18035086|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19172989|PMID:19318026|PMID:19424285|PMID:19524666|PMID:20074070|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20580717|PMID:20848652|PMID:20980393|PMID:21251803|PMID:21400569|PMID:21632249|PMID:21738662|PMID:21840938|PMID:21846512|PMID:21875900|PMID:22065502|PMID:22148005|PMID:22326558|PMID:22419169|PMID:22464770|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:22761994|PMID:22893709|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23659872|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24024053|PMID:24033266|PMID:24080738|PMID:24305605|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24639906|PMID:24642510|PMID:24687084|PMID:24794538|PMID:24990833|PMID:25163546|PMID:25210889|PMID:25448463|PMID:25556323|PMID:25567453|PMID:25649378|PMID:25741868|PMID:25946677|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26573435|PMID:26670336|PMID:26688388|PMID:27220833|PMID:27334370|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27707468|PMID:27813223|PMID:27884249|PMID:27920058|PMID:28082330|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28790152|PMID:28874324|PMID:28878338|PMID:29121657|PMID:29237675|PMID:29693488|PMID:29773157|PMID:29895224|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30122538|PMID:30418556|PMID:30420677|PMID:30847666|PMID:30911407|PMID:30919684|PMID:31006814|PMID:31038196|PMID:31383942|PMID:31428229|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31794942|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32041611|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32517491|PMID:32616434|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32913962|PMID:32939435|PMID:32943904|PMID:33038109|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34240052|PMID:34495297|PMID:34720847|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35026164|PMID:35384599|PMID:35449878|PMID:35535697|PMID:35772917|PMID:36264615|PMID:36267857|PMID:36299226|PMID:36389384|PMID:36397776|PMID:36646731|PMID:36704457|PMID:37246508|PMID:37349538|PMID:37589201|PMID:37624850|PMID:37639473|PMID:37652022|PMID:37904629|PMID:38247853|PMID:38473809|PMID:38689299|PMID:38691546|PMID:38979608|PMID:4740717|PMID:8619549|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:4362	cervical cancer		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8719462	Lmna	lamin A/C	gene	DOID:440	neuromuscular disease		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:17377071|PMID:24033266|PMID:24503780|PMID:24915601|PMID:25741868|PMID:27506821|PMID:28492532|PMID:28679633|PMID:28798025|PMID:29693488|PMID:34768595|PMID:35434999|PMID:38979608
8719462	Lmna	lamin A/C	gene	DOID:4667	kyphosis		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:10080180|PMID:10739764|PMID:10939567|PMID:11503164|PMID:11731280|PMID:14684700|PMID:14749366|PMID:15372542|PMID:17377071|PMID:17967828|PMID:18396274|PMID:18414213|PMID:18551513|PMID:18551515|PMID:18646565|PMID:19070492|PMID:20848652|PMID:20980393|PMID:21173262|PMID:22326558|PMID:23217256|PMID:23990565|PMID:24375749|PMID:24623722|PMID:24642510|PMID:25210889|PMID:25343322|PMID:25741868|PMID:25948554|PMID:25987458|PMID:26467025|PMID:26575312|PMID:27363342|PMID:27854218|PMID:28492532|PMID:29057633|PMID:30107846|PMID:31127727|PMID:32571898|PMID:33502018|PMID:36253810
8719462	Lmna	lamin A/C	gene	DOID:5688	Werner syndrome		ISO	RGD:732790	D	RGD:9068941	20200609	RGD		atypical;DNA:missense mutations:cds:p.A57P, p.R133L, p.L140R (human)	PMID:12927431|REF_RGD_ID:12791031
8719462	Lmna	lamin A/C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8719462	Lmna	lamin A/C	gene	DOID:6000	congestive heart failure		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congestive heart failure	PMID:11897440|PMID:12768443|PMID:17377071|PMID:18041775|PMID:18585512|PMID:18646565|PMID:18926329|PMID:19318026|PMID:20160190|PMID:20301609|PMID:20301717|PMID:21846512|PMID:22177269|PMID:23183350|PMID:23349452|PMID:23582089|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24915601|PMID:25469153|PMID:25569433|PMID:25741868|PMID:26467025|PMID:27506821|PMID:27532257|PMID:28492532|PMID:28663758|PMID:28679633|PMID:28759816|PMID:28798025|PMID:29095976|PMID:29693488|PMID:29943882|PMID:30178466|PMID:30287275|PMID:30420677|PMID:31476771|PMID:31514951|PMID:31983221|PMID:32160020|PMID:34768595|PMID:34773379|PMID:34862408|PMID:35026164|PMID:35434999|PMID:36472615|PMID:38979608|PMID:39145700
8719462	Lmna	lamin A/C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8719462	Lmna	lamin A/C	gene	DOID:630	genetic disease		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8719462	Lmna	lamin A/C	gene	DOID:6713	cerebrovascular disease		ISO	RGD:732790	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:cds:1908C>T (human)	PMID:16117820|REF_RGD_ID:2306095
8719462	Lmna	lamin A/C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8719462	Lmna	lamin A/C	gene	DOID:811	lipodystrophy		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lipodystrophy | ClinVar Annotator: match by term: lipodystrophy	PMID:15060110|PMID:17377071|PMID:17711925|PMID:19095983|PMID:19169477|PMID:19220582|PMID:21831885|PMID:21945321|PMID:22700598|PMID:23666920|PMID:24623722|PMID:25327215|PMID:25741868|PMID:27265359|PMID:27539898|PMID:28492532|PMID:28938416|PMID:29047356|PMID:30123186|PMID:30287275|PMID:30696354|PMID:32548202|PMID:32901917|PMID:32917565|PMID:32943904|PMID:32954377|PMID:33502018|PMID:34862408|PMID:36389384|PMID:37237059|PMID:39001760
8719462	Lmna	lamin A/C	gene	DOID:820	myocarditis		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myocarditis	PMID:24033266|PMID:24503780|PMID:25741868|PMID:27111165|PMID:28492532|PMID:29095976|PMID:29367541|PMID:34213952
8719462	Lmna	lamin A/C	gene	DOID:824	periodontitis		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:12920062|PMID:17334235|PMID:17377071|PMID:18414213|PMID:18795223|PMID:18926329|PMID:19318026|PMID:20301609|PMID:21179469|PMID:23701190|PMID:24386194|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29432544|PMID:31402444|PMID:31514951|PMID:32021920|PMID:32083564|PMID:32880476|PMID:34768595|PMID:35887646
8719462	Lmna	lamin A/C	gene	DOID:8472	localized scleroderma		ISO	RGD:732790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15726408
8719462	Lmna	lamin A/C	gene	DOID:870	neuropathy		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: peripheral neuropathy	PMID:25741868|PMID:28492532|PMID:29237675|PMID:36548481
8719462	Lmna	lamin A/C	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arrhythmia | ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:10580070|PMID:11561226|PMID:12920062|PMID:17334235|PMID:17377071|PMID:18414213|PMID:18585512|PMID:18606848|PMID:18795223|PMID:18926329|PMID:19318026|PMID:20160190|PMID:20301609|PMID:20301717|PMID:21179469|PMID:22464770|PMID:23427149|PMID:23582089|PMID:23701190|PMID:24033266|PMID:24386194|PMID:25741868|PMID:27374873|PMID:27532257|PMID:28492532|PMID:29432544|PMID:31402444|PMID:31514951|PMID:31983221|PMID:32021920|PMID:32083564|PMID:32455078|PMID:32880476|PMID:34768595|PMID:35887646
8719462	Lmna	lamin A/C	gene	DOID:9000067	Congenital Foot Deformities		ISO	RGD:732790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15996213
8719462	Lmna	lamin A/C	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:10080180|PMID:14749366|PMID:18396274|PMID:20980393|PMID:22326558|PMID:24642510|PMID:25741868|PMID:28492532|PMID:28663758|PMID:31383942|PMID:37349538
8719462	Lmna	lamin A/C	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:17377071|PMID:18551513|PMID:20160190|PMID:20980393|PMID:21632249|PMID:25741868|PMID:28492532
8719462	Lmna	lamin A/C	gene	DOID:9000652	Cardiac Conduction Disease with or without Dilated Cardiomyopathy 1		ISO	RGD:732790	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:multiple (human)	PMID:10580070|REF_RGD_ID:11066902
8719462	Lmna	lamin A/C	gene	DOID:9000727	Syncope		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:12768443|PMID:18041775|PMID:18585512|PMID:18646565|PMID:20160190|PMID:22177269|PMID:23183350|PMID:23582089|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:25569433|PMID:25741868|PMID:26467025|PMID:27532257|PMID:28492532|PMID:28663758|PMID:29095976|PMID:29943882|PMID:31983221|PMID:35026164|PMID:36472615|PMID:39145700
8719462	Lmna	lamin A/C	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732790	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:12702809|PMID:12714972|PMID:12768443|PMID:15793835|PMID:15982412|PMID:17459035|PMID:17459069|PMID:17511383|PMID:18414213|PMID:19172989|PMID:20580717|PMID:21251803|PMID:21738662|PMID:21875900|PMID:22148005|PMID:22611635|PMID:22685055|PMID:22893709|PMID:23141186|PMID:23969228|PMID:24033266|PMID:24305605|PMID:25556323|PMID:25567453|PMID:25741868|PMID:25946677|PMID:26670336|PMID:28492532|PMID:28679633|PMID:28878338|PMID:30911407|PMID:31006814|PMID:32297714|PMID:32943904
8719462	Lmna	lamin A/C	gene	DOID:9002134	Heart Murmurs		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:10080180|PMID:14749366|PMID:18396274|PMID:20980393|PMID:22326558|PMID:24642510|PMID:25741868|PMID:28492532|PMID:28663758|PMID:31383942|PMID:37349538
8719462	Lmna	lamin A/C	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:732790	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:cds:1908C>T (human)	PMID:16117820|REF_RGD_ID:2306095
8719462	Lmna	lamin A/C	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
8719462	Lmna	lamin A/C	gene	DOID:9003163	Heart Block		ISO	RGD:732790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15996213
8719462	Lmna	lamin A/C	gene	DOID:9003205	Heart-Hand Syndrome, Slovenian Type		ISO	RGD:732790	D	RGD:7240710	20180130	OMIM			
8719462	Lmna	lamin A/C	gene	DOID:9003205	Heart-Hand Syndrome, Slovenian Type		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Heart-hand syndrome, Slovenian type	PMID:10080180|PMID:10814726|PMID:10939567|PMID:11503164|PMID:11897440|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12673789|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14749366|PMID:15053843|PMID:15372542|PMID:15475483|PMID:15843404|PMID:15965218|PMID:16174718|PMID:16278265|PMID:16386954|PMID:16584978|PMID:16809772|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17711925|PMID:18035086|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18564364|PMID:18646565|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19318026|PMID:19424285|PMID:19524666|PMID:20307303|PMID:20848652|PMID:20980393|PMID:21346069|PMID:21400569|PMID:21632249|PMID:21840938|PMID:21846512|PMID:22326558|PMID:22761994|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23328570|PMID:23349452|PMID:23861362|PMID:23977161|PMID:24024053|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24794538|PMID:24990833|PMID:25163546|PMID:25210889|PMID:25448463|PMID:25741868|PMID:25819867|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26573435|PMID:27220833|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27707468|PMID:27884249|PMID:28082330|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28874324|PMID:29121657|PMID:29693488|PMID:29773157|PMID:29895224|PMID:29961767|PMID:29970176|PMID:30122538|PMID:30418556|PMID:30420677|PMID:30847666|PMID:30919684|PMID:31383942|PMID:31428229|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31980526|PMID:32004434|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32616434|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32793522|PMID:32826072|PMID:32880476|PMID:33258288|PMID:33916827|PMID:33963534|PMID:34240052|PMID:34292171|PMID:34495297|PMID:34720847|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35026164|PMID:35449878|PMID:35528128|PMID:35535697|PMID:35772917|PMID:36264615|PMID:36267857|PMID:36397776|PMID:36646731|PMID:36704457|PMID:37246508|PMID:37349538|PMID:37589201|PMID:37624850|PMID:37639473|PMID:37652022|PMID:37904629|PMID:38247853|PMID:38473809|PMID:38689299|PMID:38691546|PMID:38979608|PMID:4740717|PMID:8619549|PMID:9536098
8719462	Lmna	lamin A/C	gene	DOID:9003717	nonischemic cardiomyopathy		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non ischemic cardiomyopathy	PMID:23183350|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29892087|PMID:29943882|PMID:30007954|PMID:30420677|PMID:30615648|PMID:32376792|PMID:32880476|PMID:34495297|PMID:34768595|PMID:36971006
8719462	Lmna	lamin A/C	gene	DOID:9003846	Sinoatrial Block		ISO	RGD:732790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15996213
8719462	Lmna	lamin A/C	gene	DOID:9004416	Paroxysmal Ventricular Fibrillation		ISO	RGD:732790	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Idiopathic ventricular fibrillation	PMID:23703017|PMID:25256213|PMID:25481314|PMID:28492532
8719462	Lmna	lamin A/C	gene	DOID:9004795	Congenital Hand Deformities		ISO	RGD:732790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15996213
8719462	Lmna	lamin A/C	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:732790	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:15996213
8719462	Lmna	lamin A/C	gene	DOID:9005532	Muscle Weakness		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness | ClinVar Annotator: match by term: Progressive muscle weakness	PMID:25741868
8719462	Lmna	lamin A/C	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:22491857|PMID:25741868|PMID:26098624|PMID:27876398|PMID:28492532
8719462	Lmna	lamin A/C	gene	DOID:9006138	Laminopathies		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Laminopathies | ClinVar Annotator: match by term: Laminopathy	PMID:10739764|PMID:10939567|PMID:11102526|PMID:11503164|PMID:12032588|PMID:14675861|PMID:14684700|PMID:15372542|PMID:15724423|PMID:16061563|PMID:17377071|PMID:17599607|PMID:18031519|PMID:18035086|PMID:18551513|PMID:18564364|PMID:19167105|PMID:20301609|PMID:20301717|PMID:20848652|PMID:20886652|PMID:21085127|PMID:21632249|PMID:22186027|PMID:22464770|PMID:24033266|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24656463|PMID:24806962|PMID:25741868|PMID:26098624|PMID:26467025|PMID:27532257|PMID:27884249|PMID:28492532|PMID:29893365|PMID:29952368|PMID:30975432|PMID:31912959|PMID:32458740|PMID:32666643|PMID:34975533|PMID:35714719|PMID:37652022
8719462	Lmna	lamin A/C	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:732790	D	RGD:9068941	20200609	RGD		DNA:SNP: :c.138747C>T (human)	PMID:15205219|REF_RGD_ID:2306121
8719462	Lmna	lamin A/C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719462	Lmna	lamin A/C	gene	DOID:9007033	Ventricular Premature Complexes		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature ventricular contraction | ClinVar Annotator: match by term: premature ventricular contractions	PMID:17377071|PMID:24033266|PMID:24503780|PMID:24915601|PMID:25741868|PMID:26573435|PMID:27506821|PMID:27717888|PMID:28492532|PMID:28679633|PMID:28798025|PMID:29693488|PMID:34768595|PMID:35434999|PMID:38979608
8719462	Lmna	lamin A/C	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:10908904|PMID:16218190|PMID:20848652|PMID:24033266|PMID:24503780|PMID:27532257|PMID:28492532
8719462	Lmna	lamin A/C	gene	DOID:9007571	Hyperlipoproteinemias		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipoproteinemia	PMID:17377071|PMID:17711925|PMID:19220582|PMID:21831885|PMID:21945321|PMID:24623722|PMID:25741868|PMID:28492532|PMID:30287275|PMID:32917565|PMID:34862408|PMID:39001760
8719462	Lmna	lamin A/C	gene	DOID:9007573	Flatfoot		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8719462	Lmna	lamin A/C	gene	DOID:9007820	Sudden Death		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death	PMID:10814726|PMID:12628721|PMID:12673789|PMID:12920062|PMID:15053843|PMID:16386954|PMID:17136397|PMID:17377071|PMID:18035086|PMID:18414213|PMID:18564364|PMID:18646565|PMID:19524666|PMID:21632249|PMID:21840938|PMID:23142632|PMID:23183350|PMID:24503780|PMID:24990833|PMID:25741868|PMID:26443318|PMID:27220833|PMID:28492532|PMID:29693488|PMID:29895224|PMID:8619549
8719462	Lmna	lamin A/C	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:732790	D	RGD:9068941	20260716	CTD		CTD Direct Evidence: marker/mechanism	PMID:15996213
8719462	Lmna	lamin A/C	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10080180|PMID:14749366|PMID:18396274|PMID:20980393|PMID:22326558|PMID:24642510|PMID:25741868|PMID:28492532|PMID:28663758|PMID:31383942|PMID:37349538
8719462	Lmna	lamin A/C	gene	DOID:9008189	Pyelectasis		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:10080180|PMID:14749366|PMID:18396274|PMID:20980393|PMID:22326558|PMID:24642510|PMID:25741868|PMID:28492532|PMID:28663758|PMID:31383942|PMID:37349538
8719462	Lmna	lamin A/C	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:732790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15726408
8719462	Lmna	lamin A/C	gene	DOID:9008856	HIV-Associated Lipodystrophy Syndrome		ISO	RGD:732790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18230615
8719462	Lmna	lamin A/C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8719462	Lmna	lamin A/C	gene	DOID:9164	achalasia		ISO	RGD:732791	D	RGD:9068941	20220825	MouseDO		OMIM:200400	
8719462	Lmna	lamin A/C	gene	DOID:9351	diabetes mellitus		ISO	RGD:732790	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes	PMID:10587585|PMID:10655060|PMID:10739751|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11136544|PMID:11792809|PMID:12057196|PMID:12524233|PMID:12647844|PMID:16181372|PMID:16364671|PMID:16415042|PMID:17377071|PMID:17711925|PMID:17893350|PMID:18728124|PMID:19011997|PMID:19201734|PMID:19220582|PMID:19418082|PMID:19589617|PMID:19859838|PMID:2007407|PMID:20130076|PMID:20625965|PMID:21535365|PMID:21831885|PMID:21945321|PMID:22700598|PMID:23313286|PMID:23427149|PMID:23853504|PMID:24033266|PMID:24375749|PMID:24623722|PMID:25637381|PMID:25741868|PMID:26662654|PMID:28492532|PMID:28641778|PMID:28679633|PMID:30165155|PMID:30287275|PMID:31194872|PMID:31383942|PMID:31447099|PMID:31836692|PMID:32041611|PMID:32917565|PMID:33502018|PMID:33803652|PMID:34340952|PMID:34862408|PMID:34865644|PMID:35291351|PMID:36282542|PMID:36397776|PMID:37679847|PMID:38374194|PMID:39001760|PMID:39550450
8719462	Lmna	lamin A/C	gene	DOID:9351	diabetes mellitus		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes	PMID:12057196|PMID:17377071|PMID:17711925|PMID:19220582|PMID:19589617|PMID:21535365|PMID:21831885|PMID:21945321|PMID:24033266|PMID:24375749|PMID:24623722|PMID:25741868|PMID:28492532|PMID:30287275|PMID:31383942|PMID:32917565|PMID:34862408|PMID:36282542|PMID:38374194|PMID:39001760
8719462	Lmna	lamin A/C	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732790	D	RGD:9068941	20260709	RGD		DNA:SNPs	PMID:17327437|REF_RGD_ID:1624985
8719462	Lmna	lamin A/C	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:732790	D	RGD:9068941	20200609	RGD		DNA:SNPs	PMID:17327461|REF_RGD_ID:1624984
8719462	Lmna	lamin A/C	gene	DOID:9452	steatotic liver disease		ISO	RGD:732790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:17377071|PMID:17711925|PMID:19220582|PMID:21831885|PMID:21945321|PMID:24623722|PMID:25741868|PMID:28492532|PMID:30287275|PMID:32917565|PMID:34862408|PMID:39001760
8719462	Lmna	lamin A/C	gene	DOID:9884	muscular dystrophy		ISO	RGD:732790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:10080180|PMID:10739764|PMID:10814726|PMID:10939567|PMID:11503164|PMID:11731280|PMID:11792810|PMID:12628721|PMID:12673789|PMID:12920062|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15372542|PMID:16386954|PMID:17136397|PMID:17377071|PMID:17967828|PMID:18035086|PMID:18035816|PMID:18396274|PMID:18414213|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18646565|PMID:19070492|PMID:19524666|PMID:20848652|PMID:20980393|PMID:21173262|PMID:21179469|PMID:21520333|PMID:21632249|PMID:21818408|PMID:21840938|PMID:21970986|PMID:22326558|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23427149|PMID:23990565|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24990833|PMID:25210889|PMID:25343322|PMID:25741868|PMID:25948554|PMID:25987458|PMID:26098624|PMID:26443318|PMID:26467025|PMID:26575312|PMID:27034135|PMID:27220833|PMID:27363342|PMID:27461183|PMID:27673727|PMID:27708273|PMID:27854218|PMID:28492532|PMID:29057633|PMID:29693488|PMID:29895224|PMID:29907918|PMID:30107846|PMID:31127727|PMID:32571898|PMID:33502018|PMID:36253810|PMID:8619549
8719505	Olfml2a	olfactomedin like 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8719505	Olfml2a	olfactomedin like 2A	gene	DOID:0060058	lymphoma		ISO	RGD:1323220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8719505	Olfml2a	olfactomedin like 2A	gene	DOID:0080600	COVID-19		ISO	RGD:1323220	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8719505	Olfml2a	olfactomedin like 2A	gene	DOID:1115	sarcoma		ISO	RGD:1323220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8719505	Olfml2a	olfactomedin like 2A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8719505	Olfml2a	olfactomedin like 2A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8719505	Olfml2a	olfactomedin like 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719505	Olfml2a	olfactomedin like 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8719523	Rab24	RAB24, member RAS oncogene family	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:12062566	D	RGD:9068941	20250904	OMIA		Ataxia, cerebellar, juvenile to adolescent, RAB24-related	PMID:11043686|PMID:24516392|PMID:37341581|PMID:38003185|PMID:3973637|PMID:40869982|PMID:6502189|PMID:7341602|PMID:7440348
8719523	Rab24	RAB24, member RAS oncogene family	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1344346	D	RGD:9068941	20220513	RGD		DNA:SNP:3'utr: (rs1128287) C>A (human)	PMID:27354594|REF_RGD_ID:152177496
8719523	Rab24	RAB24, member RAS oncogene family	gene	DOID:1324	lung cancer		ISO	RGD:1344346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8719523	Rab24	RAB24, member RAS oncogene family	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8719523	Rab24	RAB24, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719523	Rab24	RAB24, member RAS oncogene family	gene	DOID:9003566	Mesothelioma		ISO	RGD:1344346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8719523	Rab24	RAB24, member RAS oncogene family	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1344346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8719548	Twist2	twist family bHLH transcription factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8719548	Twist2	twist family bHLH transcription factor 2	gene	DOID:0060549	Barber-Say syndrome		ISO	RGD:735468	D	RGD:7240710	20180130	OMIM			
8719548	Twist2	twist family bHLH transcription factor 2	gene	DOID:0060549	Barber-Say syndrome		ISO	RGD:735468	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BARBER-SAY SYNDROME	PMID:25741868|PMID:26119818|PMID:27092433|PMID:28680619
8719548	Twist2	twist family bHLH transcription factor 2	gene	DOID:0060550	ablepharon macrostomia syndrome		ISO	RGD:735468	D	RGD:7240710	20180130	OMIM			
8719548	Twist2	twist family bHLH transcription factor 2	gene	DOID:0060550	ablepharon macrostomia syndrome		ISO	RGD:735468	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ABLEPHARON-MACROSTOMIA SYNDROME	PMID:20691403|PMID:25741868|PMID:26119818|PMID:28369379
8719548	Twist2	twist family bHLH transcription factor 2	gene	DOID:630	genetic disease		ISO	RGD:735468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8719548	Twist2	twist family bHLH transcription factor 2	gene	DOID:9000745	Focal Facial Dermal Dysplasia		ISO	RGD:735468	D	RGD:9068941	20220210	CTD		CTD Direct Evidence: marker/mechanism	
8719548	Twist2	twist family bHLH transcription factor 2	gene	DOID:9003398	Focal Facial Dermal Dysplasia 3		ISO	RGD:735468	D	RGD:7240710	20180130	OMIM			
8719548	Twist2	twist family bHLH transcription factor 2	gene	DOID:9003398	Focal Facial Dermal Dysplasia 3		ISO	RGD:735468	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE	
8719560	Tgfbrap1	transforming growth factor beta receptor associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8719560	Tgfbrap1	transforming growth factor beta receptor associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8719560	Tgfbrap1	transforming growth factor beta receptor associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8719560	Tgfbrap1	transforming growth factor beta receptor associated protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8719560	Tgfbrap1	transforming growth factor beta receptor associated protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8719560	Tgfbrap1	transforming growth factor beta receptor associated protein 1	gene	DOID:1909	melanoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8719560	Tgfbrap1	transforming growth factor beta receptor associated protein 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1321869	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8719560	Tgfbrap1	transforming growth factor beta receptor associated protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8719560	Tgfbrap1	transforming growth factor beta receptor associated protein 1	gene	DOID:3275	thymoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8719560	Tgfbrap1	transforming growth factor beta receptor associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8719560	Tgfbrap1	transforming growth factor beta receptor associated protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8719560	Tgfbrap1	transforming growth factor beta receptor associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719560	Tgfbrap1	transforming growth factor beta receptor associated protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8719560	Tgfbrap1	transforming growth factor beta receptor associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8719560	Tgfbrap1	transforming growth factor beta receptor associated protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8719593	Sypl1	synaptophysin like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346991	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8719593	Sypl1	synaptophysin like 1	gene	DOID:1059	intellectual disability		ISO	RGD:1346991	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868
8719593	Sypl1	synaptophysin like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719593	Sypl1	synaptophysin like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719593	Sypl1	synaptophysin like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8719603	Cdc7	cell division cycle 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8719603	Cdc7	cell division cycle 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8719603	Cdc7	cell division cycle 7	gene	DOID:1115	sarcoma		ISO	RGD:1318070	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8719603	Cdc7	cell division cycle 7	gene	DOID:1324	lung cancer		ISO	RGD:1318070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8719603	Cdc7	cell division cycle 7	gene	DOID:1909	melanoma		ISO	RGD:1318070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8719603	Cdc7	cell division cycle 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1318070	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8719603	Cdc7	cell division cycle 7	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1318070	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
8719603	Cdc7	cell division cycle 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719603	Cdc7	cell division cycle 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8719603	Cdc7	cell division cycle 7	gene	DOID:630	genetic disease		ISO	RGD:1318070	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8719603	Cdc7	cell division cycle 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8719603	Cdc7	cell division cycle 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719625	Ap5b1	adaptor related protein complex 5 subunit beta 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1606994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:28832565
8719625	Ap5b1	adaptor related protein complex 5 subunit beta 1	gene	DOID:4448	macular degeneration		ISO	RGD:1606994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	PMID:25741868|PMID:40081374
8719625	Ap5b1	adaptor related protein complex 5 subunit beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719625	Ap5b1	adaptor related protein complex 5 subunit beta 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1614795	D	RGD:9068941	20220825	MouseDO		OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474	
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:31456290|PMID:33584783|PMID:34008892|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30076350|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34359301|PMID:34582790|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34582790|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:30902645|PMID:31456290|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34426522|PMID:34573333|PMID:34582790|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:30902645|PMID:31456290|PMID:31964843|PMID:32483926|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34426522|PMID:34573333|PMID:34582790|PMID:37431782|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:16199547|PMID:17397051|PMID:17576681|PMID:18327255|PMID:19466712|PMID:19763152|PMID:20307669|PMID:22353939|PMID:22406018|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27377014|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30902645|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:35360848|PMID:35587316|PMID:36788019|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:19466712|PMID:19763152|PMID:20307669|PMID:22353939|PMID:22406018|PMID:23351400|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27377014|PMID:27570071|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30902645|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:35360848|PMID:35587316|PMID:37131188|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:17397051|PMID:17576681|PMID:19466712|PMID:19763152|PMID:20307669|PMID:22353939|PMID:22406018|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27377014|PMID:27570071|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30902645|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:35360848|PMID:35587316|PMID:37131188|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meckel Gruber syndrome | ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:16199547|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19466712|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28771248|PMID:30055837|PMID:30076350|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:35587316|PMID:36788019|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1352123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Meckel Gruber syndrome | ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:17397051|PMID:17576681|PMID:18414213|PMID:19466712|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27570071|PMID:28492532|PMID:28497568|PMID:30055837|PMID:30076350|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34011629|PMID:35587316|PMID:37131188|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050952	spastic ataxia		ISO	RGD:1352123	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:28492532
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0060340	ciliopathy		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ciliopathy	
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1352123	D	RGD:7240710	20180130	OMIM			
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:33584783|PMID:34008892|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome, type 1	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:23169490|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34582790|PMID:35587316|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome, type 1	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:23169490|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34426522|PMID:34573333|PMID:34582790|PMID:35587316|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: MECKEL SYNDROME, TYPE 1 | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome type 1 | ClinVar Annotator: match by term: Meckel syndrome type1 | ClinVar Annotator: match by term: Meckel syndrome, type 1	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:18327255|PMID:19466712|PMID:19776033|PMID:21228398|PMID:23169490|PMID:23351400|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27570071|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30055837|PMID:30076350|PMID:31191208|PMID:31964843|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:35587316|PMID:36460718|PMID:36658419|PMID:36788019|PMID:37131188|PMID:37880672|PMID:38039006|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110135	Bardet-Biedl syndrome 13		ISO	RGD:1352123	D	RGD:7240710	20180130	OMIM			
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110135	Bardet-Biedl syndrome 13		ISO	RGD:1352123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 13 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 13	PMID:16199547|PMID:17397051|PMID:17576681|PMID:19466712|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27570071|PMID:28492532|PMID:28497568|PMID:28981474|PMID:30055837|PMID:30076350|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34011629|PMID:35587316|PMID:37131188|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110329	Leber congenital amaurosis 6		ISO	RGD:1352123	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis 6	PMID:17397051|PMID:17576681|PMID:25741868|PMID:28492532|PMID:31191208|PMID:35587316|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:33584783|PMID:34008892|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:17185389|PMID:17397051|PMID:19466712|PMID:23351400|PMID:24886560|PMID:25741868|PMID:26490104|PMID:28492532|PMID:34008892
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30076350|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34359301|PMID:34582790|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34582790|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:22406018|PMID:23169490|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34582790|PMID:35360848|PMID:35587316|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:22406018|PMID:23169490|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34426522|PMID:34573333|PMID:34582790|PMID:35360848|PMID:35587316|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:31456290|PMID:31964843|PMID:32483926|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34426522|PMID:34573333|PMID:34582790|PMID:37431782|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:17397051|PMID:17576681|PMID:19466712|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27570071|PMID:28492532|PMID:28497568|PMID:30055837|PMID:30076350|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34011629|PMID:35587316|PMID:37131188|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110997	Joubert Syndrome 28		ISO	RGD:1352123	D	RGD:7240710	20190315	OMIM			
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110997	Joubert Syndrome 28		ISO	RGD:1352123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 28 | ClinVar Annotator: match by term: Joubert syndrome 28	PMID:17397051|PMID:17576681|PMID:19466712|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27570071|PMID:28492532|PMID:28497568|PMID:30055837|PMID:30076350|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34011629|PMID:35587316|PMID:37131188|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:24608809|PMID:25741868|PMID:28492532|PMID:30076350|PMID:33584783
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:10907	microcephaly		ISO	RGD:1352123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:24608809|PMID:25741868|PMID:28492532|PMID:30076350|PMID:33584783
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1352123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:1148	polydactyly		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27570071|PMID:28492532|PMID:37131188
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:24608809|PMID:25741868|PMID:28492532|PMID:30076350|PMID:33584783
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1352123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:25741868|PMID:28492532
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1352123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:28492532
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:5679	retinal disease		ISO	RGD:1352123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:5723	optic atrophy		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1352123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1614795	D	RGD:9068941	20220825	MouseDO		OMIM:187500	
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:784	chronic kidney disease		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27570071|PMID:28492532|PMID:37131188
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:23105016|PMID:25741868|PMID:28492532|PMID:3442652
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:18327255|PMID:25741868|PMID:28125082|PMID:28492532|PMID:28497568|PMID:34008892|PMID:36788019
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27570071|PMID:28492532|PMID:37131188
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:24608809|PMID:25741868|PMID:28492532|PMID:30076350|PMID:33584783
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:28492532
8719631	Mks1	MKS transition zone complex subunit 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Rotary nystagmus	PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27570071|PMID:28492532|PMID:37131188
8719652	Fam114a2	family with sequence similarity 114 member A2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8719652	Fam114a2	family with sequence similarity 114 member A2	gene	DOID:10534	stomach cancer		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8719652	Fam114a2	family with sequence similarity 114 member A2	gene	DOID:1115	sarcoma		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8719652	Fam114a2	family with sequence similarity 114 member A2	gene	DOID:1324	lung cancer		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8719652	Fam114a2	family with sequence similarity 114 member A2	gene	DOID:3275	thymoma		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8719652	Fam114a2	family with sequence similarity 114 member A2	gene	DOID:4362	cervical cancer		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8719652	Fam114a2	family with sequence similarity 114 member A2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313342	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8719652	Fam114a2	family with sequence similarity 114 member A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719652	Fam114a2	family with sequence similarity 114 member A2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8719652	Fam114a2	family with sequence similarity 114 member A2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8719652	Fam114a2	family with sequence similarity 114 member A2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8719652	Fam114a2	family with sequence similarity 114 member A2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719652	Fam114a2	family with sequence similarity 114 member A2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:3711	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane	PMID:18988797|REF_RGD_ID:2307071
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:733302	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18988797
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:10534	stomach cancer		ISO	RGD:733302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:1115	sarcoma		ISO	RGD:733302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:11716	prediabetes syndrome		ISO	RGD:3711	D	RGD:9068941	20200609	RGD		protein:increased expression:epididymis	PMID:24105628|REF_RGD_ID:9999379
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:733302	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18188457
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:1324	lung cancer		ISO	RGD:733302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:1909	melanoma		ISO	RGD:733302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:2394	ovarian cancer		ISO	RGD:733302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:3070	high grade glioma		ISO	RGD:733302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:3275	thymoma		ISO	RGD:733302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:4362	cervical cancer		ISO	RGD:733302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:733302	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:899	choledochal cyst		ISO	RGD:733302	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18988797
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733302	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:9004633	Autosomal Recessive Osteopetrosis 9		ISO	RGD:733302	D	RGD:7240710	20230510	OMIM			
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:9004633	Autosomal Recessive Osteopetrosis 9		ISO	RGD:733302	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Osteopetrosis, autosomal recessive 9	PMID:25741868
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:733302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:9007331	Alkalosis		ISO	RGD:3711	D	RGD:9068941	20200609	RGD		associated with Hypercalcemia;protein:decreased expression:kidney outer medulla inner stripe	PMID:17367404|REF_RGD_ID:9999377
8719673	Slc4a2	solute carrier family 4 member 2	gene	DOID:9007406	Distal Renal Tubular Acidosis		ISO	RGD:733302	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Distal renal tubular acidosis	PMID:31959358
8719709	Clps	colipase	gene	DOID:3275	thymoma		ISO	RGD:731525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8719709	Clps	colipase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8719709	Clps	colipase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2363	D	RGD:9068941	20200609	RGD			PMID:19577003|REF_RGD_ID:2314624
8719709	Clps	colipase	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:731525	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:p.R109C (human)	PMID:16189801|REF_RGD_ID:2314627
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1345219	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:0060260	ptosis		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:25741868
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:0070066	autosomal dominant intellectual developmental disorder 36		ISO	RGD:1345219	D	RGD:7240710	20180130	OMIM			
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:0070066	autosomal dominant intellectual developmental disorder 36		ISO	RGD:1345219	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Houge-Janssens syndrome 2 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 36 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 | ClinVar Annotator: match by term: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | ClinVar Annotator: match by term: PPP2R1A-Related Disorder | ClinVar Annotator: match by term: PPP2R1A-related condition | ClinVar Annotator: match by term: PPP2R1A-related disorder | ClinVar Annotator: match by term: PPP2R1A-related neurodevelopmental disorder	PMID:17576681|PMID:22895193|PMID:25533962|PMID:25741868|PMID:26168268|PMID:28492532|PMID:29100083|PMID:29636988|PMID:31531803|PMID:31687265|PMID:31785789|PMID:33106617|PMID:34930662|PMID:35101336|PMID:35327467|PMID:36209351|PMID:36307859|PMID:36672867|PMID:9536098
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868|PMID:28492532|PMID:31687265
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:0080833	laryngomalacia		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868|PMID:26168268|PMID:28492532|PMID:33106617|PMID:34930662
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:0080918	polymicrogyria		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868|PMID:26168268|PMID:28492532|PMID:33106617|PMID:34930662
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:10534	stomach cancer		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:1059	intellectual disability		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:31687265|PMID:35327467
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:10629	microphthalmia		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25741868|PMID:26168268|PMID:28492532|PMID:33106617|PMID:34930662
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:10907	microcephaly		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:35327467
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:10908	hydrocephalus		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aqueductal stenosis | ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:26168268|PMID:28492532|PMID:31687265|PMID:33106617|PMID:34930662
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:1115	sarcoma		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:11782	astigmatism		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:35327467
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1345219	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Lobstein disease	PMID:25741868|PMID:25944380|PMID:28492532|PMID:29100083|PMID:31531803|PMID:33106617
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:12849	autistic disorder		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:1324	lung cancer		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:27485451|PMID:35101336
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:1826	epilepsy		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26168268|PMID:28492532|PMID:31687265|PMID:33106617|PMID:34930662|PMID:35327467
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:1827	generalized epilepsy		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868|PMID:35327467
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:1909	melanoma		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:2228	thrombocytosis		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytosis	PMID:25741868|PMID:28492532|PMID:31687265
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:26168268|PMID:28492532|PMID:33106617|PMID:34930662
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:3070	high grade glioma		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1345219	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1345219	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach	PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1345219	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1345219	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1345219	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:630	genetic disease		ISO	RGD:1345219	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25533962|PMID:26168268|PMID:28492532|PMID:33106617|PMID:36209351
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:8398	osteoarthritis		ISO	RGD:1345219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:26168268|PMID:28492532|PMID:33106617|PMID:34930662
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1345219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:9000918	Disease Progression		ISO	RGD:1345219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:9001031	Retrognathia		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:35327467
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:35327467
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:9002580	Metatarsus Varus		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metatarsus adductus	PMID:25741868|PMID:35327467
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:9003816	Macrocephaly		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:26168268|PMID:28492532|PMID:33106617|PMID:34930662
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1345219	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:9008622	Adrenal Insufficiency		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal insufficiency	PMID:25741868|PMID:28492532|PMID:31687265
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:26168268|PMID:28492532|PMID:33106617|PMID:34930662
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:936	brain disease		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:28492532
8719720	Ppp2r1a	protein phosphatase 2 scaffold subunit Aalpha	gene	DOID:9834	hyperopia		ISO	RGD:1345219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
8719744	Crip3	cysteine rich protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1343897	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8719744	Crip3	cysteine rich protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719744	Crip3	cysteine rich protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8719766	Commd7	COMM domain containing 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8719766	Commd7	COMM domain containing 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8719766	Commd7	COMM domain containing 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8719766	Commd7	COMM domain containing 7	gene	DOID:1115	sarcoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8719766	Commd7	COMM domain containing 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8719766	Commd7	COMM domain containing 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8719766	Commd7	COMM domain containing 7	gene	DOID:4362	cervical cancer		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8719766	Commd7	COMM domain containing 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8719766	Commd7	COMM domain containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719766	Commd7	COMM domain containing 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8719766	Commd7	COMM domain containing 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8719766	Commd7	COMM domain containing 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:0110130	Bardet-Biedl syndrome 8		ISO	RGD:1317152	D	RGD:7240710	20180130	OMIM			
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:0110130	Bardet-Biedl syndrome 8		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 8 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 8 | ClinVar Annotator: match by term: TTC8-related condition	PMID:14520415|PMID:16199547|PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:20177705|PMID:21044901|PMID:21052717|PMID:24033266|PMID:25097241|PMID:25741868|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30718709|PMID:30886724|PMID:32483926|PMID:32962042|PMID:33138063|PMID:33532864|PMID:33964006|PMID:9536098
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:0110398	retinitis pigmentosa 51		ISO	RGD:1317152	D	RGD:7240710	20180130	OMIM			
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:0110398	retinitis pigmentosa 51		ISO	RGD:1317152	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 51 | ClinVar Annotator: match by term: Retinitis pigmentosa 51	PMID:16308660|PMID:16877420|PMID:19797195|PMID:20451172|PMID:21052717|PMID:25741868|PMID:25776555|PMID:28492532|PMID:30886724
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:10534	stomach cancer		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1317152	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:14520415|PMID:16308660|PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1317152	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:14520415|PMID:16308660|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28492532|PMID:30718709
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1317152	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:14520415|PMID:16308660|PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709|PMID:33964006
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:28492532
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:1059	intellectual disability		ISO	RGD:1317152	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:16308660|PMID:17576681|PMID:20177705|PMID:21044901|PMID:24033266|PMID:25741868|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30886724|PMID:32962042|PMID:33138063|PMID:9536098
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:1324	lung cancer		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1317152	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:14520415|PMID:16199547|PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:21052717|PMID:25741868|PMID:25999674|PMID:28492532|PMID:30886724|PMID:31736247|PMID:31852928|PMID:31951201|PMID:33587123|PMID:34426522|PMID:37031301|PMID:9536098
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:1935	Bardet-Biedl syndrome	susceptibility	ISO	RGD:1317152	D	RGD:9068941	20200609	RGD		DNA:deletions:exon, splice junction :p.E187_Y188del, IVS10+2_+4delTGC	PMID:14520415|REF_RGD_ID:1624198
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1317152	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:630	genetic disease		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:8466	retinal degeneration		ISO	RGD:12071899	D	RGD:9068941	20250501	OMIA		Retinal atrophy, progressive, TTC8-related	PMID:22065099|PMID:26401321|PMID:26427412|PMID:32962042|PMID:36325094|PMID:37582787|PMID:38028226|PMID:38334230
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:8501	fundus dystrophy		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:21052717|PMID:25741868|PMID:28492532|PMID:30886724|PMID:9536098
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719786	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8719809	Prrt2	proline rich transmembrane protein 2	gene	DOID:0081115	benign familial infantile seizures 2		ISO	RGD:1602444	D	RGD:7240710	20180130	OMIM			
8719809	Prrt2	proline rich transmembrane protein 2	gene	DOID:0081115	benign familial infantile seizures 2		ISO	RGD:1602444	D	RGD:8554872	20250812	ClinVar		ClinVar Annotator: match by term: Seizures, benign familial infantile, 2	PMID:25741868
8719809	Prrt2	proline rich transmembrane protein 2	gene	DOID:0090053	episodic kinesigenic dyskinesia 1		ISO	RGD:1602444	D	RGD:7240710	20180130	OMIM			
8719809	Prrt2	proline rich transmembrane protein 2	gene	DOID:0090053	episodic kinesigenic dyskinesia 1		ISO	RGD:1602444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 1 | ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia	PMID:19914906|PMID:24372385|PMID:25421402|PMID:26629640|PMID:26742926|PMID:28492532|PMID:40401013
8719809	Prrt2	proline rich transmembrane protein 2	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1602444	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
8719809	Prrt2	proline rich transmembrane protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1602444	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
8719809	Prrt2	proline rich transmembrane protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1602444	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11179027|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23299620|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26598493|PMID:28074849|PMID:28492532|PMID:29334453|PMID:34782754
8719809	Prrt2	proline rich transmembrane protein 2	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1602444	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Cholestanol storage disease	PMID:25741868|PMID:28492532|PMID:28590052
8719809	Prrt2	proline rich transmembrane protein 2	gene	DOID:9007283	Familial Infantile Convulsions and Paroxysmal Choreoathetosis		ISO	RGD:1602444	D	RGD:7240710	20180130	OMIM			
8719809	Prrt2	proline rich transmembrane protein 2	gene	DOID:9007283	Familial Infantile Convulsions and Paroxysmal Choreoathetosis		ISO	RGD:1602444	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS	PMID:11179027|PMID:11346027|PMID:16199547|PMID:18414213|PMID:20301633|PMID:21900383|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22464846|PMID:22623405|PMID:22744660|PMID:22752065|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:22902309|PMID:23077016|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23352743|PMID:23363396|PMID:23457309|PMID:23551744|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24101679|PMID:24370076|PMID:24465263|PMID:24594579|PMID:24609974|PMID:24755245|PMID:24928127|PMID:25060993|PMID:25167861|PMID:25248169|PMID:25449067|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:25915028|PMID:26446061|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:26709262|PMID:27172900|PMID:27173777|PMID:28074849|PMID:28492532|PMID:28906077|PMID:29132464|PMID:29215089|PMID:29334453|PMID:31124310|PMID:31722684|PMID:32651081|PMID:33126486|PMID:33661484|PMID:34041212|PMID:34782754|PMID:34992632|PMID:35428900|PMID:36247910|PMID:36467477|PMID:37476319|PMID:37793168|PMID:37880614|PMID:37884687|PMID:38778723|PMID:39825153
8719809	Prrt2	proline rich transmembrane protein 2	gene	DOID:9009225	Episodic Kinesigenic Dyskinesia		ISO	RGD:1602444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia	PMID:2131349|PMID:23077026|PMID:23496026|PMID:24609974|PMID:24886244|PMID:28492532|PMID:30980674
8719858	Vil1	villin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8719858	Vil1	villin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8719858	Vil1	villin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8719858	Vil1	villin 1	gene	DOID:13580	cholestasis		ISO	RGD:1316011	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
8719858	Vil1	villin 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1316011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8719858	Vil1	villin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8719858	Vil1	villin 1	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1316011	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
8719858	Vil1	villin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316011	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8719858	Vil1	villin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719858	Vil1	villin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8719858	Vil1	villin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719892	Tll1	tolloid like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8719892	Tll1	tolloid like 1	gene	DOID:0110111	atrial heart septal defect 6		ISO	RGD:1314549	D	RGD:7240710	20180130	OMIM			
8719892	Tll1	tolloid like 1	gene	DOID:0110111	atrial heart septal defect 6		ISO	RGD:1314549	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATRIAL SEPTAL DEFECT 6 | ClinVar Annotator: match by term: Atrial septal defect 6 | ClinVar Annotator: match by term: TLL1-related condition	PMID:10331975|PMID:25741868|PMID:28492532|PMID:31570783
8719892	Tll1	tolloid like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8719892	Tll1	tolloid like 1	gene	DOID:1115	sarcoma		ISO	RGD:1314549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8719892	Tll1	tolloid like 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1314549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
8719892	Tll1	tolloid like 1	gene	DOID:1681	heart septal defect		ISO	RGD:1550401	D	RGD:9068941	20230202	RGD			PMID:10331975|REF_RGD_ID:155882595
8719892	Tll1	tolloid like 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1314549	D	RGD:9068941	20230202	RGD		DNA:insertion:exon:exon 10 (human)	PMID:22883091|REF_RGD_ID:155882571
8719892	Tll1	tolloid like 1	gene	DOID:3393	coronary artery disease	severity	ISO	RGD:1314549	D	RGD:9068941	20230202	RGD		associated with type 2 diabetes:DNA:SNP:CDS:rs1503298 (human)	PMID:21911782|REF_RGD_ID:155883159
8719892	Tll1	tolloid like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8719892	Tll1	tolloid like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314549	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8719892	Tll1	tolloid like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719892	Tll1	tolloid like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:0080820	occupational asthma		ISO	RGD:1315371	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25918132
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:1909	melanoma		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:2661	myoepithelioma		ISO	RGD:1315371	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:3070	high grade glioma		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:3275	thymoma		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:630	genetic disease		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:9001920	Microphthalmia/Coloboma 9		ISO	RGD:1315371	D	RGD:7240710	20180130	OMIM			
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:9001920	Microphthalmia/Coloboma 9		ISO	RGD:1315371	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 15 | ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 9 | ClinVar Annotator: match by term: TENM3-related condition | ClinVar Annotator: match by term: microphthalmia, isolated, with coloboma 9	PMID:22766609|PMID:25741868|PMID:27103084|PMID:28492532|PMID:30513139|PMID:32799327|PMID:33456446
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1315371	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315371	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:9849	Meniere's disease		ISO	RGD:1315371	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Meniere disease	
8719927	Tenm3	teneurin transmembrane protein 3	gene	DOID:9975	cocaine dependence	susceptibility	ISO	RGD:1315371	D	RGD:9068941	20231102	RGD		DNA:SNP:: (rs1514483) (human)	PMID:18438686|REF_RGD_ID:401851917
8719963	Slc24a5	solute carrier family 24 member 5	gene	DOID:0050633	ocular albinism 1		ISO	RGD:1321543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ocular albinism	PMID:16199547|PMID:23985994|PMID:25741868|PMID:26686029|PMID:28492532
8719963	Slc24a5	solute carrier family 24 member 5	gene	DOID:0080614	oculocutaneous albinism type VI		ISO	RGD:1321543	D	RGD:7240710	20180130	OMIM			
8719963	Slc24a5	solute carrier family 24 member 5	gene	DOID:0080614	oculocutaneous albinism type VI		ISO	RGD:1321543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SLC24A5-related condition	PMID:28492532
8719963	Slc24a5	solute carrier family 24 member 5	gene	DOID:630	genetic disease		ISO	RGD:1321543	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8719963	Slc24a5	solute carrier family 24 member 5	gene	DOID:9001386	Albinism		ISO	RGD:1321543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albinism	PMID:16199547|PMID:23985994|PMID:25741868|PMID:26686029|PMID:28492532
8719963	Slc24a5	solute carrier family 24 member 5	gene	DOID:9001735	Skin/Hair/Eye Pigmentation, Variation In, 4		ISO	RGD:1321543	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN	
8719979	Srp14	signal recognition particle 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8719979	Srp14	signal recognition particle 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8719979	Srp14	signal recognition particle 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8719979	Srp14	signal recognition particle 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:0050770	polycystic liver disease		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital cystic disease of liver	PMID:25741868|PMID:28492532
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease	PMID:25741868|PMID:27259053
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:0081355	congenital myopathy 22B		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myopathy 22B, severe fetal	PMID:25741868
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:0110860	polycystic kidney disease 3		ISO	RGD:1320293	D	RGD:7240710	20190315	OMIM			
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:0110860	polycystic kidney disease 3		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GANAB-related condition | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE | ClinVar Annotator: match by term: Polycystic kidney disease 3 | ClinVar Annotator: match by term: Polycystic kidney disease 3 with or without polycystic liver disease	PMID:25741868|PMID:27259053|PMID:28492532|PMID:29243290|PMID:30333007|PMID:30792735|PMID:33097077|PMID:33569422|PMID:40134995
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:1115	sarcoma		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:1324	lung cancer		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:2975	cystic kidney disease		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:3070	high grade glioma		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:3459	breast carcinoma		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:27259053
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:630	genetic disease		ISO	RGD:1320293	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:30333007
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:784	chronic kidney disease		ISO	RGD:1320293	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868|PMID:28492532
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1320293	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1320293	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8719989	Ganab	glucosidase II alpha subunit	gene	DOID:9351	diabetes mellitus		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:25741868
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atrioventricular septal defect	PMID:18059478|PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:731253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARGE association	PMID:25741868
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:0060260	ptosis		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:27804958
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:25741868|PMID:38177409
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:27804958
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:10376	amblyopia		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868|PMID:27804958
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:1059	intellectual disability		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:18059478|PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:10892	hypospadias		ISO	RGD:731253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypospadias	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:10907	microcephaly		ISO	RGD:731253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:11383	cryptorchidism		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:18059478|PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:11782	astigmatism		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:27804958
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:12270	coloboma		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chorioretinal coloboma | ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:18059478|PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428|PMID:38177409
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:12273	anisometropia		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anisometropia	PMID:25741868|PMID:27804958
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:12849	autistic disorder		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:14766	renal agenesis		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Renal agenesis	PMID:18059478|PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:1657	ventricular septal defect		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:18059478|PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:1664	pineoblastoma		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pineoblastoma	PMID:25741868|PMID:38177409
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:1826	epilepsy		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:27804958|PMID:28492532|PMID:33057194|PMID:35322241|PMID:35982159|PMID:36134573|PMID:36367278|PMID:37303278|PMID:39825153
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:1826	epilepsy		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:27804958
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:1882	atrial heart septal defect		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:18059478|PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:2030	anxiety disorder		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:2340	craniosynostosis		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:3086	gingival overgrowth		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingival overgrowth	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:420	hypertrichosis		ISO	RGD:731253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: hypertrichosis	PMID:25741868
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:4362	cervical cancer		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:4667	kyphosis		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:540	strabismus		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:27804958
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:557	kidney disease		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:5805	subvalvular aortic stenosis		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Subvalvular aortic stenosis	PMID:18059478|PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:630	genetic disease		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18059478|PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:25741868|PMID:27804958
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9000637	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES		ISO	RGD:731253	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	PMID:25741868
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9000641	Pain		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9001276	Failure to Thrive		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:27804958
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9001510	Funnel Chest		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:27804958
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9001575	IRIS COLOBOMA		ISO	RGD:731253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Iris coloboma	PMID:25741868|PMID:38177409
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:731253	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21435101
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9002682	Cardiovascular Abnormalities		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology	PMID:27804958|PMID:28327570|PMID:28492532
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9003133	Hypertelorism		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9003566	Mesothelioma		ISO	RGD:731253	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21435101
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9003752	Persistent Truncus Arteriosus		ISO	RGD:731253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Persistent truncus arteriosus	PMID:25741868
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9003816	Macrocephaly		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9003952	Verheij Syndrome		ISO	RGD:731253	D	RGD:7240710	20180130	OMIM			
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9003952	Verheij Syndrome		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHROMOSOME 8q24.3 DELETION SYNDROME | ClinVar Annotator: match by term: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | ClinVar Annotator: match by term: PUF60-related disorder | ClinVar Annotator: match by term: VERHEIJ SYNDROME | ClinVar Annotator: match by term: Verheij syndrome	PMID:18059478|PMID:18414213|PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428|PMID:30006928|PMID:32746448
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9004108	Fused Kidney		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9004226	Hittner Hirsch Kreh Syndrome		ISO	RGD:731253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome	PMID:25741868
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9004552	Genu Varum		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu varum	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9004866	Ataxia		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:27804958
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9005077	Joint Instability		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:25741868
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9005466	Language Development Disorders		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868|PMID:27804958
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9005532	Muscle Weakness		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:28492532|PMID:33057194|PMID:35322241|PMID:35982159|PMID:36134573|PMID:36367278|PMID:37303278
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:27804958
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9005616	Micrognathism		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Micrognathia | ClinVar Annotator: match by term: micrognathia	PMID:18059478|PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9005749	Necrosis		ISO	RGD:731253	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21435101
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9006617	Fatigue		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9007152	Talipes		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Talipes	PMID:25741868
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:731253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9007559	Thyroglossal Cyst		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroglossal cyst	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9007573	Flatfoot		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9007661	Dwarfism		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:18059478|PMID:25741868|PMID:27804958|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428|PMID:38177409
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay | ClinVar Annotator: match by term: developmental delay	PMID:18059478|PMID:25741868|PMID:27804958|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428|PMID:38177409
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9008214	Genu Valgum		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9008268	Enuresis		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enuresis	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9009021	Plagiocephaly		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9834	hyperopia		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:987	alopecia		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alopecia	PMID:25741868
8720025	Puf60	poly(U) binding splicing factor 60	gene	DOID:9970	obesity		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
8720045	Slc22a4	solute carrier family 22 member 4	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:621149	D	RGD:9068941	20250130	RGD			PMID:32429274|REF_RGD_ID:597538527
8720045	Slc22a4	solute carrier family 22 member 4	gene	DOID:1324	lung cancer		ISO	RGD:733281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8720045	Slc22a4	solute carrier family 22 member 4	gene	DOID:3083	chronic obstructive pulmonary disease	treatment	ISO	RGD:621149	D	RGD:9068941	20250130	RGD			PMID:32707498|REF_RGD_ID:597538521
8720045	Slc22a4	solute carrier family 22 member 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8720045	Slc22a4	solute carrier family 22 member 4	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:733281	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: SLC22A4-related condition	PMID:25741868|PMID:28492532
8720045	Slc22a4	solute carrier family 22 member 4	gene	DOID:7148	rheumatoid arthritis	susceptibility	ISO	RGD:733281	D	RGD:7240710	20190329	OMIM			
8720045	Slc22a4	solute carrier family 22 member 4	gene	DOID:820	myocarditis		ISO	RGD:733281	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21641380
8720045	Slc22a4	solute carrier family 22 member 4	gene	DOID:9000220	Coxsackievirus Infections		ISO	RGD:733281	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21641380
8720045	Slc22a4	solute carrier family 22 member 4	gene	DOID:9006549	Enterovirus Infections		ISO	RGD:733281	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21641380
8720045	Slc22a4	solute carrier family 22 member 4	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733281	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
8720063	Gpr35	G protein-coupled receptor 35	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319732	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8720063	Gpr35	G protein-coupled receptor 35	gene	DOID:10534	stomach cancer		ISO	RGD:1319732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8720063	Gpr35	G protein-coupled receptor 35	gene	DOID:1115	sarcoma		ISO	RGD:1319732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8720063	Gpr35	G protein-coupled receptor 35	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8720063	Gpr35	G protein-coupled receptor 35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720063	Gpr35	G protein-coupled receptor 35	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8720063	Gpr35	G protein-coupled receptor 35	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8720063	Gpr35	G protein-coupled receptor 35	gene	DOID:9256	colorectal cancer		ISO	RGD:1319732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:11875755|PMID:25741868|PMID:28492532
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1314945	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Regional enteritis	PMID:11385576|PMID:11385577|PMID:11425413|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12512038|PMID:12650796|PMID:12673278|PMID:12704363|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15571588|PMID:15712650|PMID:16010583|PMID:16416181|PMID:16669960|PMID:17301648|PMID:17489054|PMID:18240302|PMID:18489434|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20047977|PMID:20332463|PMID:20713205|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22939045|PMID:23128233|PMID:23173613|PMID:23334666|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24047397|PMID:24345423|PMID:24586700|PMID:24597572|PMID:25365249|PMID:25741868|PMID:26042516|PMID:26167078|PMID:26500656|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:31681265|PMID:32597225|PMID:32716958|PMID:33394828
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050678	Blau syndrome		ISO	RGD:1314945	D	RGD:7240710	20180130	OMIM			
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050678	Blau syndrome		ISO	RGD:1314945	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: JABS SYNDROME | ClinVar Annotator: match by term: Jabs syndrome	PMID:11385576|PMID:11385577|PMID:11425413|PMID:11528384|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12202985|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12630966|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14522785|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15086578|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15459013|PMID:15554080|PMID:15571588|PMID:15620648|PMID:15712650|PMID:15770725|PMID:15812565|PMID:15967635|PMID:15998797|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:16804397|PMID:17157607|PMID:17207093|PMID:17301648|PMID:17393391|PMID:17489054|PMID:17576681|PMID:17968944|PMID:18056399|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18718560|PMID:18942754|PMID:18955195|PMID:19103559|PMID:19116920|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19479836|PMID:19479837|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20039400|PMID:20047977|PMID:20084402|PMID:20199415|PMID:20230816|PMID:20332463|PMID:20565245|PMID:20713205|PMID:20959815|PMID:21097508|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21596301|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22377804|PMID:22440928|PMID:22509093|PMID:22543157|PMID:22684479|PMID:22859352|PMID:22926499|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23334666|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24595243|PMID:24597572|PMID:24713464|PMID:24803813|PMID:24876985|PMID:25093298|PMID:25136265|PMID:25209167|PMID:25365249|PMID:25416713|PMID:25429073|PMID:25619344|PMID:25741868|PMID:25829188|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:26606664|PMID:26768519|PMID:26774591|PMID:27306066|PMID:27339507|PMID:27373512|PMID:27419275|PMID:27625029|PMID:28008999|PMID:28130683|PMID:28422189|PMID:28492532|PMID:28639104|PMID:28658209|PMID:28750667|PMID:28814775|PMID:28836875|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29697845|PMID:29795570|PMID:29867916|PMID:30159790|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:30574935|PMID:30693132|PMID:30783801|PMID:30806112|PMID:31681265|PMID:32346654|PMID:32463623|PMID:32597225|PMID:32647028|PMID:32707200|PMID:32716958|PMID:33042144|PMID:33394828|PMID:33692434|PMID:34251956|PMID:34440800|PMID:34573280|PMID:35273242|PMID:35314268|PMID:7825454|PMID:9124059|PMID:9536098
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050678	Blau syndrome		ISO	RGD:1314945	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BLAU SYNDROME | ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Granulomatous inflammatory arthritis, dermatitis and uveitis, familial | ClinVar Annotator: match by term: JABS SYNDROME | ClinVar Annotator: match by term: Jabs syndrome	PMID:11528384|PMID:11875755|PMID:12626759|PMID:12630966|PMID:14522785|PMID:15044951|PMID:15459013|PMID:15554080|PMID:15812565|PMID:16199547|PMID:16278823|PMID:16485124|PMID:16804397|PMID:17157607|PMID:17207093|PMID:17393391|PMID:17576681|PMID:17968944|PMID:18507017|PMID:18718560|PMID:19479836|PMID:20039400|PMID:20084402|PMID:20199415|PMID:20230816|PMID:20565245|PMID:21983784|PMID:22509093|PMID:22926499|PMID:24033266|PMID:24595243|PMID:24713464|PMID:24876985|PMID:25093298|PMID:25416713|PMID:25429073|PMID:25619344|PMID:25741868|PMID:25819062|PMID:26070941|PMID:26606664|PMID:27306066|PMID:27625029|PMID:28130683|PMID:28422189|PMID:28492532|PMID:28639104|PMID:28836875|PMID:29178652|PMID:29248579|PMID:29503906|PMID:29570830|PMID:29697845|PMID:30159790|PMID:30166421|PMID:30693132|PMID:30783801|PMID:32463623|PMID:32647028|PMID:32707200|PMID:32909274|PMID:33394828|PMID:33692434|PMID:34251956|PMID:34440800|PMID:34573280|PMID:38348033|PMID:38741190|PMID:9536098
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050678	Blau syndrome	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.E383G (human)	PMID:19116920|REF_RGD_ID:8158051
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050678	Blau syndrome	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.E383K (human)	PMID:15812565|REF_RGD_ID:8547515
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050678	Blau syndrome	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)	PMID:11528384|REF_RGD_ID:8158040
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050678	Blau syndrome	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)	PMID:19479837|REF_RGD_ID:8547518
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20220513	RGD		DNA:SNP:3'utr: (rs3135499) C>A (human)	PMID:27354594|REF_RGD_ID:152177496
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050922	gastrointestinal carcinoma		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human)	PMID:20230816|REF_RGD_ID:5508759
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:0060180	colitis		ISO	RGD:1306368	D	RGD:9068941	20200609	RGD		mRNA:increased expression:colon	PMID:16891783|REF_RGD_ID:1600781
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:0060180	colitis		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD			PMID:20921147|PMID:21471573|REF_RGD_ID:5508727|REF_RGD_ID:5508755
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:0060578	Noonan syndrome 1		ISO	RGD:1314945	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Noonan syndrome 1	PMID:25741868
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:0080176	meningococcal meningitis	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:SNP,haplotype: :SNP8(human)	PMID:23691182|REF_RGD_ID:7800668
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:0081267	graft-versus-host disease	severity	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:snps, insertion:exons:p.R675W, p.G1881R, c.2936_2937insC (human)	PMID:15090455|REF_RGD_ID:8158050
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:0081451	PFAPA syndrome		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:mutations:cds	PMID:21914217|REF_RGD_ID:13204855
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:0110892	inflammatory bowel disease 1		ISO	RGD:1314945	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inflammatory bowel disease 1	PMID:11875755|PMID:12626759|PMID:12630966|PMID:15044951|PMID:15459013|PMID:16485124|PMID:18507017|PMID:20230816|PMID:21983784|PMID:22377804|PMID:22926499|PMID:24033266|PMID:25416713|PMID:25741868|PMID:26768519|PMID:27419275|PMID:28492532|PMID:32463623
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:1024	leprosy		ISO	RGD:1314945	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Leprosy, susceptibility to, 1	
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:104	bacterial infectious disease		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD		associated with Virus Diseases	PMID:21669398|REF_RGD_ID:5508748
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:10457	Legionnaires' disease		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD			PMID:20685341|REF_RGD_ID:5131443
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:11729	Lyme disease		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD			PMID:21387014|REF_RGD_ID:5508754
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:13141	uveitis		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD			PMID:21296813|REF_RGD_ID:5508729
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:11875755|PMID:25741868|PMID:28492532
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:insertion: : 3020_3021insC (human)	PMID:16267612|REF_RGD_ID:5131514
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:13241	Behcet's disease		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Behcet disease	PMID:14597055|PMID:28492532
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:13241	Behcet's disease	no_association	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)	PMID:15515785|REF_RGD_ID:13204711
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:13241	Behcet's disease	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:snp, insertion:exons:p.R702W, p.L1007insC (human)	PMID:19748964|REF_RGD_ID:8158059
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:13406	pulmonary sarcoidosis	disease_progression	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:2104C>T (human)	PMID:19679608|REF_RGD_ID:4892066
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:insertion: : 3020_3021insC (human)	PMID:16267612|REF_RGD_ID:5131514
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:1936	atherosclerosis		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD			PMID:24324141|REF_RGD_ID:8158039
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain	PMID:20863826|REF_RGD_ID:5508733
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:2280	hidradenitis suppurativa		ISO	RGD:1314945	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:2378	relapsing-remitting multiple sclerosis	disease_progression	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs3135499,rs2066842(human)	PMID:20595247|REF_RGD_ID:13204725
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:insertion:Cds: 3020_3021insC (human)	PMID:20223031|REF_RGD_ID:5131515
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:2596	larynx cancer	onset	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:insertion:Cds: 3020_3021insC (human)	PMID:20223031|REF_RGD_ID:5131515
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:2723	dermatitis		ISO	RGD:1314945	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:19467619
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD			PMID:18158963|REF_RGD_ID:5131450
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:2841	asthma		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD			PMID:21051079|REF_RGD_ID:5508757
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:intron, exon/3'UTR (rs1077861, rs3135500) (human)	PMID:16008671|REF_RGD_ID:5131477
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1314945	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:11385576|PMID:11385577|PMID:11425413|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12202985|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:17301648|PMID:17489054|PMID:17576681|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20230816|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22859352|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24597572|PMID:24803813|PMID:25093298|PMID:25209167|PMID:25365249|PMID:25416713|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:26774591|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28166811|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30159790|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:31681265|PMID:32463623|PMID:32597225|PMID:32716958|PMID:9536098
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1314945	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:11385576|PMID:11385577|PMID:11425413|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12202985|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:17301648|PMID:17489054|PMID:17576681|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20230816|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22859352|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:23806086|PMID:24033266|PMID:24047397|PMID:24088041|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24597572|PMID:24803813|PMID:25093298|PMID:25209167|PMID:25365249|PMID:25416713|PMID:25687216|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:26774591|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30159790|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:31681265|PMID:32463623|PMID:32597225|PMID:32716958|PMID:9536098
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1314945	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:11875755|PMID:12202985|PMID:12626759|PMID:16199547|PMID:16278823|PMID:16485124|PMID:17576681|PMID:18507017|PMID:20230816|PMID:24033266|PMID:25741868|PMID:26070941|PMID:26774591|PMID:28492532|PMID:29503906|PMID:30159790|PMID:32463623|PMID:38348033|PMID:9536098
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1314945	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:11875755|PMID:12202985|PMID:16199547|PMID:16485124|PMID:17576681|PMID:18507017|PMID:20230816|PMID:24033266|PMID:25741868|PMID:26070941|PMID:26774591|PMID:28492532|PMID:29503906|PMID:30159790|PMID:32463623|PMID:9536098
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1314945	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:11875755|PMID:12202985|PMID:16199547|PMID:16485124|PMID:17576681|PMID:18507017|PMID:20230816|PMID:21983784|PMID:24033266|PMID:25741868|PMID:26070941|PMID:26774591|PMID:28492532|PMID:29503906|PMID:30159790|PMID:32463623|PMID:9536098
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:SNPs:CDs:p.P268S, R702W, A725G (human)	PMID:18419343|REF_RGD_ID:5131510
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:2987	familial Mediterranean fever	severity	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)	PMID:22244368|REF_RGD_ID:13204709
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: (rs1077861) (human)	PMID:21943069|REF_RGD_ID:5508720
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:3393	coronary artery disease		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :p.G908R, 3020_3021insC (human)	PMID:21565239|REF_RGD_ID:5508725
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:1306368	D	RGD:9068941	20200609	RGD			PMID:24842554|REF_RGD_ID:13204729
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:4029	gastritis		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human)	PMID:20230816|REF_RGD_ID:5508759
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:417	autoimmune disease		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		associated with Common Variable Immunodeficiency;DNA:missense mutation: :p.G908R (human)	PMID:20646002|REF_RGD_ID:5508739
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:11875755|PMID:25741868|PMID:28492532
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:4481	allergic rhinitis		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:nasal cavity mucosa	PMID:23858718|REF_RGD_ID:8547523
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:4483	rhinitis	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:cds:2104C>T,2722G>C (human)	PMID:12704363|REF_RGD_ID:5131484
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:4989	pancreatitis		ISO	RGD:1306368	D	RGD:9068941	20200609	RGD		protein, mRNA:decreased expression:pancreas, blood cells	PMID:20442679|REF_RGD_ID:5131438
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314945	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:5295	intestinal disease		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		associated with Common Variable Immunodeficiency;DNA:missense mutation: :p.G908R (human)	PMID:20646002|REF_RGD_ID:5508739
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:630	genetic disease		ISO	RGD:1314945	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:19479836|PMID:25741868|PMID:28492532|PMID:33394828
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:6543	acne		ISO	RGD:1314945	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:11875755|PMID:25741868|PMID:28492532
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:8553	pyoderma gangrenosum		ISO	RGD:1314945	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:8577	ulcerative colitis		ISO	RGD:1314945	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:20452301
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD			PMID:20580721|REF_RGD_ID:8547529
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:874	bacterial pneumonia		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD			PMID:19360122|REF_RGD_ID:5131449
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:8778	Crohn's disease		ISO	RGD:1314945	D	RGD:7240710	20180523	OMIM			
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:8778	Crohn's disease		ISO	RGD:1314945	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Enteritis, Granulomatous | ClinVar Annotator: match by term: Inflammatory bowel disease 1 | ClinVar Annotator: match by term: Regional enteritis	PMID:11875755|PMID:12626759|PMID:12630966|PMID:15044951|PMID:15459013|PMID:16199547|PMID:16485124|PMID:18507017|PMID:20230816|PMID:21983784|PMID:22377804|PMID:22926499|PMID:24033266|PMID:25416713|PMID:25741868|PMID:26768519|PMID:27419275|PMID:28492532|PMID:29503906|PMID:29697845|PMID:30159790|PMID:32463623|PMID:33394828
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:8778	Crohn's disease	no_association	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:missense mutations, frameshift mutation: :p.R702W, p.G908R, 3020_3021insC (human)	PMID:21155887|REF_RGD_ID:5508730
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:8778	Crohn's disease	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation, missense mutations	PMID:11385576|REF_RGD_ID:1600778
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:9000099	Experimental Colitis		ISO	RGD:1306368	D	RGD:9068941	20200609	RGD		protein:increased expression:colonic mucosa:	PMID:22997830|REF_RGD_ID:13204727
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:9000113	Pneumococcal Meningitis		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain	PMID:25443778|REF_RGD_ID:9831197
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:9000156	Metaplasia		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human)	PMID:20230816|REF_RGD_ID:5508759
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:9001049	Staphylococcal Pneumonia		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD			PMID:20493961|REF_RGD_ID:5131444
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:9002019	Granuloma		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD			PMID:20679225|REF_RGD_ID:5508736
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD			PMID:20131263|PMID:21424514|REF_RGD_ID:5508728|REF_RGD_ID:8552884
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:9002517	Early-Onset Sarcoidosis		ISO	RGD:1314945	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoidosis, early-onset	PMID:11385576|PMID:11875755|PMID:12626759|PMID:15024686|PMID:15459013|PMID:15770725|PMID:15812565|PMID:16278823|PMID:16485124|PMID:17968944|PMID:18056399|PMID:18718560|PMID:19116920|PMID:19479836|PMID:19479837|PMID:20039400|PMID:20565245|PMID:21596301|PMID:22859352|PMID:24713464|PMID:25093298|PMID:25136265|PMID:25416713|PMID:25619344|PMID:25741868|PMID:25829188|PMID:26500656|PMID:27339507|PMID:28130683|PMID:28492532|PMID:28639104|PMID:30693132|PMID:30806112|PMID:32647028|PMID:32677123|PMID:33042144|PMID:35273242|PMID:35314268|PMID:36006803|PMID:36161322|PMID:38348033|PMID:39372397
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:9002720	Splenomegaly	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		associated with Common Variable Immunodeficiency;DNA:missense mutation:cds:p.R702W (rs2066844) (human)	PMID:20646002|REF_RGD_ID:5508739
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:insertion:Cds: 3020_3021insC (human)	PMID:20223031|REF_RGD_ID:5131515
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1306368	D	RGD:9068941	20200609	RGD		protein:increased expression:small intestine	PMID:20107953|REF_RGD_ID:5131440
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:9004484	Sepsis		ISO	RGD:1306368	D	RGD:9068941	20200609	RGD		mRNA:increased expression:intestine mucosa (rat)	PMID:24059417|REF_RGD_ID:8547531
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:9004484	Sepsis	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:missense mutations, frameshift mutation:cds:p.R702W, p.G908R, 3020_3021insC (human)	PMID:21460759|REF_RGD_ID:5508752
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:9004527	YAO SYNDROME		ISO	RGD:1314945	D	RGD:7240710	20210127	OMIM			
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:9004527	YAO SYNDROME		ISO	RGD:1314945	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Susceptibility to Yao syndrome | ClinVar Annotator: match by term: Yao syndrome	PMID:11875755|PMID:12626759|PMID:15044951|PMID:15459013|PMID:25741868|PMID:28492532
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:1306368	D	RGD:9068941	20200609	RGD		associated with Sepsis	PMID:22575870|REF_RGD_ID:8547530
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:9004945	Ocular Toxoplasmosis	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:snp:3' utr:g.*397A>C (rs3135499)(human)	PMID:23100559|REF_RGD_ID:8547527
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:9005036	Bacteremia	severity	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		associated with Staphylococcal Infections;	PMID:24086711|REF_RGD_ID:13204726
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:9008	psoriatic arthritis		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to	PMID:11875755|PMID:12626759|PMID:15459013|PMID:25741868|PMID:28492532
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:9008103	Seasonal Allergic Rhinitis	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:5'UTR/exon, exon:rs5743266, rs2066842 (human)	PMID:16008671|REF_RGD_ID:5131477
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		protein:increased expression:monocyte	PMID:21886831|REF_RGD_ID:5508746
8720074	Nod2	nucleotide binding oligomerization domain containing 2	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:p.G908R  (rs2066845)(human)	PMID:16642031|REF_RGD_ID:13204710
8720095	Bpgm	bisphosphoglycerate mutase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8720095	Bpgm	bisphosphoglycerate mutase	gene	DOID:0111630	familial erythrocytosis 8		ISO	RGD:1605438	D	RGD:7240710	20180130	OMIM			
8720095	Bpgm	bisphosphoglycerate mutase	gene	DOID:0111630	familial erythrocytosis 8		ISO	RGD:1605438	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ERYTHROCYTOSIS, FAMILIAL, 8	PMID:1421379|PMID:28492532
8720095	Bpgm	bisphosphoglycerate mutase	gene	DOID:1115	sarcoma		ISO	RGD:1605438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8720095	Bpgm	bisphosphoglycerate mutase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720095	Bpgm	bisphosphoglycerate mutase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8720110	Rdh5	retinol dehydrogenase 5	gene	DOID:11105	fundus albipunctatus		ISO	RGD:1318857	D	RGD:7240710	20180130	OMIM			
8720110	Rdh5	retinol dehydrogenase 5	gene	DOID:11830	myopia		ISO	RGD:1318857	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23396134
8720110	Rdh5	retinol dehydrogenase 5	gene	DOID:8499	night blindness		ISO	RGD:1318857	D	RGD:9068941	20200609	RGD		fundus albipunctatus (congenital night-blindness disorder), OMIM:601617  Gly238Trp, Arg280His, Ala294Pro	PMID:10617778|REF_RGD_ID:1599416
8720110	Rdh5	retinol dehydrogenase 5	gene	DOID:9005835	Congenital Abnormalities		ISO	RGD:1318857	D	RGD:9068941	20200609	RGD		fundus albipunctatus (congenital night-blindness disorder), OMIM:601617  Gly238Trp, Arg280His, Ala294Pro	PMID:10617778|REF_RGD_ID:1599416
8720125	Sh2d4a	SH2 domain containing 4A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8720125	Sh2d4a	SH2 domain containing 4A	gene	DOID:0080600	COVID-19		ISO	RGD:1317502	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8720125	Sh2d4a	SH2 domain containing 4A	gene	DOID:10534	stomach cancer		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8720125	Sh2d4a	SH2 domain containing 4A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8720125	Sh2d4a	SH2 domain containing 4A	gene	DOID:1115	sarcoma		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8720125	Sh2d4a	SH2 domain containing 4A	gene	DOID:1909	melanoma		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8720125	Sh2d4a	SH2 domain containing 4A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8720125	Sh2d4a	SH2 domain containing 4A	gene	DOID:3275	thymoma		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8720125	Sh2d4a	SH2 domain containing 4A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8720125	Sh2d4a	SH2 domain containing 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720125	Sh2d4a	SH2 domain containing 4A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8720125	Sh2d4a	SH2 domain containing 4A	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8720125	Sh2d4a	SH2 domain containing 4A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8720125	Sh2d4a	SH2 domain containing 4A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8720163	Traf1	TNF receptor associated factor 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1351243	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19336370
8720163	Traf1	TNF receptor associated factor 1	gene	DOID:1909	melanoma		ISO	RGD:1351243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8720163	Traf1	TNF receptor associated factor 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1351243	D	RGD:9068941	20201218	CTD		CTD Direct Evidence: marker/mechanism	PMID:31068361
8720163	Traf1	TNF receptor associated factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1351243	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8720163	Traf1	TNF receptor associated factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720163	Traf1	TNF receptor associated factor 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1351243	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8720163	Traf1	TNF receptor associated factor 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1351243	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18794853|PMID:23143596
8720163	Traf1	TNF receptor associated factor 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1351243	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8720163	Traf1	TNF receptor associated factor 1	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1351243	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8720163	Traf1	TNF receptor associated factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8720163	Traf1	TNF receptor associated factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8720188	Tmem11	transmembrane protein 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8720188	Tmem11	transmembrane protein 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8720197	Psme3ip1	proteasome activator subunit 3 interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8720197	Psme3ip1	proteasome activator subunit 3 interacting protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1605044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8720197	Psme3ip1	proteasome activator subunit 3 interacting protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8720197	Psme3ip1	proteasome activator subunit 3 interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605044	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8720197	Psme3ip1	proteasome activator subunit 3 interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720223	Cdc34	cell division cycle 34, ubiquitin conjugating enzyme	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8720223	Cdc34	cell division cycle 34, ubiquitin conjugating enzyme	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8720223	Cdc34	cell division cycle 34, ubiquitin conjugating enzyme	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8720223	Cdc34	cell division cycle 34, ubiquitin conjugating enzyme	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720223	Cdc34	cell division cycle 34, ubiquitin conjugating enzyme	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8720232	Ngfr	nerve growth factor receptor	gene	DOID:0050328	congenital hypothyroidism	treatment	ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:23312094|REF_RGD_ID:10414076
8720232	Ngfr	nerve growth factor receptor	gene	DOID:0050741	alcohol dependence		ISO	RGD:3177	D	RGD:9068941	20240229	RGD		protein:altered expression:brain,neuron	PMID:7609866|REF_RGD_ID:401976553
8720232	Ngfr	nerve growth factor receptor	gene	DOID:0050850	diabetic encephalopathy	treatment	ISO	RGD:3177	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:23528019|REF_RGD_ID:7242845
8720232	Ngfr	nerve growth factor receptor	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas	PMID:12741461|REF_RGD_ID:5508378
8720232	Ngfr	nerve growth factor receptor	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:3177	D	RGD:9068941	20240203	RGD			PMID:20581854|REF_RGD_ID:401965387
8720232	Ngfr	nerve growth factor receptor	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		protein:decreased expression:lamina propria:lack of staining is a marker for HD	PMID:7807351|REF_RGD_ID:5508387
8720232	Ngfr	nerve growth factor receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10983	D	RGD:9068941	20200609	RGD		protein:altered localization:brain	PMID:19334058|REF_RGD_ID:5508225
8720232	Ngfr	nerve growth factor receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:730911	D	RGD:9068941	20200609	RGD			PMID:2557638|REF_RGD_ID:10414073
8720232	Ngfr	nerve growth factor receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:rs2072446	PMID:18780967|REF_RGD_ID:5508228
8720232	Ngfr	nerve growth factor receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		protein:altered expression:urine	PMID:8215963|REF_RGD_ID:10413893
8720232	Ngfr	nerve growth factor receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		protein:decreased expression:basal nucleus of telencephalon, neuron	PMID:10683291|REF_RGD_ID:10413892
8720232	Ngfr	nerve growth factor receptor	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:730911	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotypes: :multiple	PMID:22236693|REF_RGD_ID:10413891
8720232	Ngfr	nerve growth factor receptor	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:10983	D	RGD:9068941	20200609	RGD			PMID:23545424|REF_RGD_ID:10413895
8720232	Ngfr	nerve growth factor receptor	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:19070649|REF_RGD_ID:10413894
8720232	Ngfr	nerve growth factor receptor	gene	DOID:10762	portal hypertension		ISO	RGD:3177	D	RGD:9068941	20200609	RGD		protein:increased expression:superior mesenteric ganglion	PMID:22292477|REF_RGD_ID:10414081
8720232	Ngfr	nerve growth factor receptor	gene	DOID:10763	hypertension		ISO	RGD:3177	D	RGD:9068941	20200609	RGD		DNA,protein:missense mutation:CDS:c.28G>A, p.A10T (rat strains: SHR/Izm, SHRSP/Izm, WKHT)	PMID:8762194|REF_RGD_ID:5508800
8720232	Ngfr	nerve growth factor receptor	gene	DOID:11446	sciatic neuropathy		ISO	RGD:10983	D	RGD:9068941	20200609	RGD			PMID:17576803|REF_RGD_ID:5144067
8720232	Ngfr	nerve growth factor receptor	gene	DOID:11446	sciatic neuropathy		ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:23138653|REF_RGD_ID:10414078
8720232	Ngfr	nerve growth factor receptor	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:3177	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:ovary	PMID:15795180|REF_RGD_ID:5508374
8720232	Ngfr	nerve growth factor receptor	gene	DOID:11832	visual epilepsy		ISO	RGD:730911	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:10436046
8720232	Ngfr	nerve growth factor receptor	gene	DOID:12217	Lewy body dementia		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:8347330|REF_RGD_ID:10413896
8720232	Ngfr	nerve growth factor receptor	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:19824047|REF_RGD_ID:4891065
8720232	Ngfr	nerve growth factor receptor	gene	DOID:12858	Huntington's disease		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		mRNA:increased expression:caudate nucleus	PMID:18093249|REF_RGD_ID:10058981
8720232	Ngfr	nerve growth factor receptor	gene	DOID:1289	neurodegenerative disease		ISO	RGD:730911	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12097334
8720232	Ngfr	nerve growth factor receptor	gene	DOID:1307	dementia		ISO	RGD:3177	D	RGD:9068941	20200609	RGD		associated with Autoimmune Diseases;protein:decreased expression:medial septal nucleus	PMID:8232919|REF_RGD_ID:10413897
8720232	Ngfr	nerve growth factor receptor	gene	DOID:14330	Parkinson's disease		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:8347330|REF_RGD_ID:10413896
8720232	Ngfr	nerve growth factor receptor	gene	DOID:1555	urticaria		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		protein:decreased expression:skin	PMID:12653731|REF_RGD_ID:5508479
8720232	Ngfr	nerve growth factor receptor	gene	DOID:1596	depressive disorder		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:p.S205L, minor (L) allele appears protective	PMID:15274039|REF_RGD_ID:5508376
8720232	Ngfr	nerve growth factor receptor	gene	DOID:1679	cystitis		ISO	RGD:3177	D	RGD:9068941	20200609	RGD		protein, mRNA:increased expression:lumbosacral dorsal root ganglia	PMID:18189308|REF_RGD_ID:5508447
8720232	Ngfr	nerve growth factor receptor	gene	DOID:1686	glaucoma		ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:20943663|REF_RGD_ID:5508695
8720232	Ngfr	nerve growth factor receptor	gene	DOID:1793	pancreatic cancer	severity	ISO	RGD:730911	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor:associated with longer overall survival	PMID:16704535|REF_RGD_ID:5508229
8720232	Ngfr	nerve growth factor receptor	gene	DOID:1909	melanoma		ISO	RGD:730911	D	RGD:9068941	20201218	CTD		CTD Direct Evidence: marker/mechanism	PMID:30339727
8720232	Ngfr	nerve growth factor receptor	gene	DOID:1936	atherosclerosis		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		protein:increased expression:adventitia, vasa vasorum	PMID:11689207|REF_RGD_ID:5508382
8720232	Ngfr	nerve growth factor receptor	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:11124986|REF_RGD_ID:9743974
8720232	Ngfr	nerve growth factor receptor	gene	DOID:2377	multiple sclerosis		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		protein:increased expression:reactive astrocytes, microglia/macrophages	PMID:11829348|REF_RGD_ID:5508481
8720232	Ngfr	nerve growth factor receptor	gene	DOID:2841	asthma		ISO	RGD:10983	D	RGD:9068941	20200609	RGD			PMID:12540484|PMID:16603479|REF_RGD_ID:5144070|REF_RGD_ID:5144072
8720232	Ngfr	nerve growth factor receptor	gene	DOID:3310	atopic dermatitis		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		protein:increased expression:nerve fibers of the papillary dermis	PMID:16586073|REF_RGD_ID:5508452
8720232	Ngfr	nerve growth factor receptor	gene	DOID:3393	coronary artery disease		ISO	RGD:730911	D	RGD:9068941	20200609	RGD			PMID:11935372|REF_RGD_ID:1580935
8720232	Ngfr	nerve growth factor receptor	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:22678884|REF_RGD_ID:10413900
8720232	Ngfr	nerve growth factor receptor	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:10983	D	RGD:9068941	20200609	RGD			PMID:17576803|REF_RGD_ID:5144067
8720232	Ngfr	nerve growth factor receptor	gene	DOID:4483	rhinitis		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, eosinophil	PMID:18647313|REF_RGD_ID:5144116
8720232	Ngfr	nerve growth factor receptor	gene	DOID:6000	congestive heart failure		ISO	RGD:3177	D	RGD:9068941	20200609	RGD		associated with Myocardial Infarction ;mRNA:increased expression:heart left ventricle, septum (rat)	PMID:16497176|REF_RGD_ID:1642301
8720232	Ngfr	nerve growth factor receptor	gene	DOID:90	degenerative disc disease		ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:20973063|REF_RGD_ID:5144150
8720232	Ngfr	nerve growth factor receptor	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:3177	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:11223160|REF_RGD_ID:5144100
8720232	Ngfr	nerve growth factor receptor	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:23748892|REF_RGD_ID:10414079
8720232	Ngfr	nerve growth factor receptor	gene	DOID:9000310	Lung Injury		ISO	RGD:10983	D	RGD:9068941	20200609	RGD			PMID:17673270|REF_RGD_ID:5144065
8720232	Ngfr	nerve growth factor receptor	gene	DOID:9000641	Pain		ISO	RGD:3177	D	RGD:9068941	20200609	RGD		associated with Inflammation	PMID:20060234|REF_RGD_ID:5144063
8720232	Ngfr	nerve growth factor receptor	gene	DOID:9000998	Brain Injuries	treatment	ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:23940017|REF_RGD_ID:10414074
8720232	Ngfr	nerve growth factor receptor	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:22302815|REF_RGD_ID:10413905
8720232	Ngfr	nerve growth factor receptor	gene	DOID:9001240	Peripheral Nerve Injuries	treatment	ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:22669154|REF_RGD_ID:10413899
8720232	Ngfr	nerve growth factor receptor	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:3177	D	RGD:9068941	20200609	RGD		associated with Brachial Plexus Neuropathies	PMID:23324933|REF_RGD_ID:10413898
8720232	Ngfr	nerve growth factor receptor	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:730911	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:17409433|PMID:18056468
8720232	Ngfr	nerve growth factor receptor	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:3177	D	RGD:9068941	20200609	RGD		mRNA:increased expression:central nervous system	PMID:8866783|REF_RGD_ID:5508386
8720232	Ngfr	nerve growth factor receptor	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	severity	ISO	RGD:10983	D	RGD:9068941	20200609	RGD			PMID:16519950|REF_RGD_ID:5508312
8720232	Ngfr	nerve growth factor receptor	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:730911	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10436046
8720232	Ngfr	nerve growth factor receptor	gene	DOID:9004354	Alcohol-Related Disorders		ISO	RGD:3177	D	RGD:9068941	20240229	RGD		protein:altered expression:brain	PMID:15188277|REF_RGD_ID:401976555
8720232	Ngfr	nerve growth factor receptor	gene	DOID:9004354	Alcohol-Related Disorders		ISO	RGD:3177	D	RGD:9068941	20240229	RGD		protein:decreased expression:brain	PMID:15188276|REF_RGD_ID:401976554
8720232	Ngfr	nerve growth factor receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3177	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:21136036|REF_RGD_ID:5144144
8720232	Ngfr	nerve growth factor receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3177	D	RGD:9068941	20240309	RGD		protein:decreased expression:telencephalon	PMID:26282349|REF_RGD_ID:402463971
8720232	Ngfr	nerve growth factor receptor	gene	DOID:9005908	Retrograde Degeneration		ISO	RGD:3177	D	RGD:9068941	20240309	RGD		protein:decreased expression:forebrain	PMID:29609077|REF_RGD_ID:402463965
8720232	Ngfr	nerve growth factor receptor	gene	DOID:9006302	Binge Drinking		ISO	RGD:3177	D	RGD:9068941	20250201	RGD		mRNA:decreased expression:basal forebrain cholinergic neurons	PMID:37402853|REF_RGD_ID:597538603
8720232	Ngfr	nerve growth factor receptor	gene	DOID:9007090	Experimental Seizures	treatment	ISO	RGD:3177	D	RGD:9068941	20241214	RGD			PMID:12873743|REF_RGD_ID:9743975
8720232	Ngfr	nerve growth factor receptor	gene	DOID:9007500	Prurigo		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		protein:increased expression:skin Schwann cells, skin perineurium cells	PMID:10025723|REF_RGD_ID:5508384
8720232	Ngfr	nerve growth factor receptor	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:20943663|REF_RGD_ID:5508695
8720232	Ngfr	nerve growth factor receptor	gene	DOID:9743	diabetic neuropathy		ISO	RGD:3177	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:dorsal root ganglia (GK/KyoSwe)	PMID:12469361|REF_RGD_ID:5508379
8720242	Hgd	homogentisate 1,2-dioxygenase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8720242	Hgd	homogentisate 1,2-dioxygenase	gene	DOID:4362	cervical cancer		ISO	RGD:1318713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8720242	Hgd	homogentisate 1,2-dioxygenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720242	Hgd	homogentisate 1,2-dioxygenase	gene	DOID:630	genetic disease		ISO	RGD:1318713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8720242	Hgd	homogentisate 1,2-dioxygenase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318713	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:10594001|PMID:12501223|PMID:12872836|PMID:18945288|PMID:19862842|PMID:25681086|PMID:25741868|PMID:28492532
8720242	Hgd	homogentisate 1,2-dioxygenase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8720242	Hgd	homogentisate 1,2-dioxygenase	gene	DOID:9006065	Arthralgia		ISO	RGD:1318713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	
8720242	Hgd	homogentisate 1,2-dioxygenase	gene	DOID:9006239	Alkaptonuric Ochronosis		ISO	RGD:1318713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alkaptonuric ochronosis	PMID:19862842|PMID:23430897|PMID:25681086|PMID:25741868|PMID:28492532
8720242	Hgd	homogentisate 1,2-dioxygenase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318713	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10594001|PMID:12501223|PMID:12872836|PMID:18945288|PMID:19862842|PMID:25681086|PMID:25741868|PMID:28492532
8720242	Hgd	homogentisate 1,2-dioxygenase	gene	DOID:9270	alkaptonuria		ISO	RGD:1318713	D	RGD:7240710	20180130	OMIM			
8720242	Hgd	homogentisate 1,2-dioxygenase	gene	DOID:9270	alkaptonuria		ISO	RGD:1318713	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALKAPTONURIA | ClinVar Annotator: match by term: Alkaptonuria | ClinVar Annotator: match by term: HGD-related condition | ClinVar Annotator: match by term: Homogentisic acidura | ClinVar Annotator: match by term: alkaptonuria	PMID:1001939|PMID:10205262|PMID:10340975|PMID:10482952|PMID:10594001|PMID:10819641|PMID:10970188|PMID:11001939|PMID:11017803|PMID:12051967|PMID:12114497|PMID:12501223|PMID:12872836|PMID:14978662|PMID:15|PMID:16085442|PMID:16199547|PMID:17576681|PMID:18945288|PMID:19306858|PMID:19862842|PMID:2018|PMID:20462779|PMID:2114497|PMID:21437689|PMID:21720873|PMID:21822197|PMID:23092576|PMID:23353776|PMID:23430897|PMID:23519186|PMID:24233259|PMID:24575791|PMID:2501223|PMID:25153563|PMID:25233259|PMID:25525159|PMID:25681086|PMID:25741868|PMID:25804398|PMID:26960557|PMID:27026014|PMID:28492532|PMID:30737480|PMID:31927521|PMID:32212000|PMID:33621656|PMID:33746036|PMID:34008892|PMID:34504318|PMID:34686677|PMID:35550814|PMID:36253209|PMID:37658095|PMID:8782815|PMID:9154114|PMID:9529363|PMID:9536098|PMID:9630082|PMID:9674916
8720270	Mier2	MIER family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8720270	Mier2	MIER family member 2	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1316379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
8720270	Mier2	MIER family member 2	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1316379	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8720270	Mier2	MIER family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8720270	Mier2	MIER family member 2	gene	DOID:1115	sarcoma		ISO	RGD:1316379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8720270	Mier2	MIER family member 2	gene	DOID:3275	thymoma		ISO	RGD:1316379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8720270	Mier2	MIER family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1316379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8720270	Mier2	MIER family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316379	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8720270	Mier2	MIER family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720270	Mier2	MIER family member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8720270	Mier2	MIER family member 2	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1316379	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8720270	Mier2	MIER family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8720270	Mier2	MIER family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8720300	Fam43a	family with sequence similarity 43 member A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1343774	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8720314	Gtf3c4	general transcription factor IIIC subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8720314	Gtf3c4	general transcription factor IIIC subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1349733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8720314	Gtf3c4	general transcription factor IIIC subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1349733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8720314	Gtf3c4	general transcription factor IIIC subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1349733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8720314	Gtf3c4	general transcription factor IIIC subunit 4	gene	DOID:3070	high grade glioma		ISO	RGD:1349733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8720314	Gtf3c4	general transcription factor IIIC subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1349733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8720314	Gtf3c4	general transcription factor IIIC subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720314	Gtf3c4	general transcription factor IIIC subunit 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1349733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8720329	Grik1	glutamate ionotropic receptor kainate type subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:731546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8720329	Grik1	glutamate ionotropic receptor kainate type subunit 1	gene	DOID:11832	visual epilepsy		ISO	RGD:731546	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:12080343
8720329	Grik1	glutamate ionotropic receptor kainate type subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:731546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8720329	Grik1	glutamate ionotropic receptor kainate type subunit 1	gene	DOID:1824	status epilepticus		ISO	RGD:2732	D	RGD:9068941	20200609	RGD			PMID:12724156|REF_RGD_ID:1642496
8720329	Grik1	glutamate ionotropic receptor kainate type subunit 1	gene	DOID:1825	childhood absence epilepsy		ISO	RGD:731546	D	RGD:9068941	20200609	RGD			PMID:9259378|REF_RGD_ID:1358334
8720329	Grik1	glutamate ionotropic receptor kainate type subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:731546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8720329	Grik1	glutamate ionotropic receptor kainate type subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:731546	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8720329	Grik1	glutamate ionotropic receptor kainate type subunit 1	gene	DOID:5419	schizophrenia	no_association	ISO	RGD:731546	D	RGD:9068941	20200609	RGD		DNA:SNPs:three known and three novel:Japanese population	PMID:11702055|REF_RGD_ID:1642476
8720329	Grik1	glutamate ionotropic receptor kainate type subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8720329	Grik1	glutamate ionotropic receptor kainate type subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8720362	Etfrf1	electron transfer flavoprotein regulatory factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8720362	Etfrf1	electron transfer flavoprotein regulatory factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:10283	prostate cancer		ISO	RGD:69203	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate gland stroma, hormone insensitive tumors	PMID:9285567|REF_RGD_ID:2289086
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:11132	prostatic hypertrophy		ISO	RGD:62097	D	RGD:9068941	20200609	RGD			PMID:9000125|REF_RGD_ID:2301094
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:11132	prostatic hypertrophy		ISO	RGD:69203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14999240
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:11132	prostatic hypertrophy		ISO	RGD:69203	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate	PMID:11482780|REF_RGD_ID:2289085
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:11132	prostatic hypertrophy	no_association	ISO	RGD:69203	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:prostate gland	PMID:9285567|REF_RGD_ID:2289086
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:127	leiomyoma		ISO	RGD:69203	D	RGD:9068941	20200609	RGD			PMID:18566572|REF_RGD_ID:2301090
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:69203	D	RGD:9068941	20200609	RGD		cervical squamous cell carcinoma;  mRNA:increased expression:cervical squamous cells	PMID:17306351|REF_RGD_ID:2289084
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:2394	ovarian cancer		ISO	RGD:69203	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:11000522|REF_RGD_ID:2289080
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:2871	endometrial carcinoma		ISO	RGD:69203	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:endometrium	PMID:9070494|REF_RGD_ID:2301091
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:69203	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (human)	PMID:19635508|REF_RGD_ID:5490168
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:3744	cervical squamous cell carcinoma		ISO	RGD:69203	D	RGD:9068941	20200609	RGD		cervical squamous cell carcinoma;  mRNA:increased expression:cervical squamous cells	PMID:17306351|REF_RGD_ID:2289084
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:69203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15677771
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:5082	liver cirrhosis		ISO	RGD:69203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17692400
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:674	cleft palate		ISO	RGD:69203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17963255
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:8577	ulcerative colitis		ISO	RGD:69203	D	RGD:9068941	20210604	RGD		mRNA:increased expression:colon, lamina propria, myofibroblasts (human)	PMID:9358773|REF_RGD_ID:126928145
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:8778	Crohn's disease		ISO	RGD:69203	D	RGD:9068941	20210604	RGD		mRNA:increased expression:colon, ileum, myofibroblasts (human)	PMID:9358773|REF_RGD_ID:126928145
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:69203	D	RGD:9068941	20210528	RGD		human protein in mouse model	PMID:10219846|REF_RGD_ID:126928136
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:9000310	Lung Injury		ISO	RGD:69203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18385170
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:9002221	Hyperplasia		ISO	RGD:62097	D	RGD:9068941	20210604	RGD		mRNA:increased expression:distal colon (mouse)	PMID:10338516|REF_RGD_ID:126928149
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:69203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:9003491	Enterobacteriaceae Infections		ISO	RGD:62097	D	RGD:9068941	20210604	RGD		mRNA:increased expression:distal colon (mouse)	PMID:10338516|REF_RGD_ID:126928149
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:69203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16526316
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:62097	D	RGD:9068941	20200609	RGD			PMID:9000125|REF_RGD_ID:2301094
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:9006010	Gingival Hyperplasia		ISO	RGD:69203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11023675
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:9007417	Pseudomonas Infections	treatment	ISO	RGD:69203	D	RGD:9068941	20210528	RGD		human protein in rat model	PMID:11076810|REF_RGD_ID:126928130
8720387	Fgf7	fibroblast growth factor 7	gene	DOID:9296	cleft lip		ISO	RGD:69203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17963255
8720402	Stk25	serine/threonine kinase 25	gene	DOID:10534	stomach cancer		ISO	RGD:1342524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8720402	Stk25	serine/threonine kinase 25	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8720402	Stk25	serine/threonine kinase 25	gene	DOID:1115	sarcoma		ISO	RGD:1342524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8720402	Stk25	serine/threonine kinase 25	gene	DOID:1324	lung cancer		ISO	RGD:1342524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8720402	Stk25	serine/threonine kinase 25	gene	DOID:1909	melanoma		ISO	RGD:1342524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8720402	Stk25	serine/threonine kinase 25	gene	DOID:4362	cervical cancer		ISO	RGD:1342524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8720402	Stk25	serine/threonine kinase 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720402	Stk25	serine/threonine kinase 25	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8720402	Stk25	serine/threonine kinase 25	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8720450	Bhmt	betaine--homocysteine S-methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8720450	Bhmt	betaine--homocysteine S-methyltransferase	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1346951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17119116
8720450	Bhmt	betaine--homocysteine S-methyltransferase	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:621496	D	RGD:9068941	20241121	RGD		protein:increased expression:serum,liver	PMID:23083309|REF_RGD_ID:408425974
8720450	Bhmt	betaine--homocysteine S-methyltransferase	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:621496	D	RGD:9068941	20241121	RGD		protein:increased expression:cytosol	PMID:25684186|REF_RGD_ID:408418736
8720450	Bhmt	betaine--homocysteine S-methyltransferase	gene	DOID:0080074	neural tube defect		ISO	RGD:1346951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17035141
8720450	Bhmt	betaine--homocysteine S-methyltransferase	gene	DOID:3526	cerebral infarction	susceptibility	ISO	RGD:1346951	D	RGD:9068941	20230831	RGD		DNA:SNPs,haplotypes:multiple	PMID:20458436|REF_RGD_ID:401794454
8720450	Bhmt	betaine--homocysteine S-methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1346951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8720450	Bhmt	betaine--homocysteine S-methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720450	Bhmt	betaine--homocysteine S-methyltransferase	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1346951	D	RGD:9068941	20220616	RGD		associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human)	PMID:30901224|REF_RGD_ID:152995286
8720450	Bhmt	betaine--homocysteine S-methyltransferase	gene	DOID:893	Wilson disease		ISO	RGD:1346951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23519153
8720450	Bhmt	betaine--homocysteine S-methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8720450	Bhmt	betaine--homocysteine S-methyltransferase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1346951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23665415
8720450	Bhmt	betaine--homocysteine S-methyltransferase	gene	DOID:9477	pulmonary embolism	susceptibility	ISO	RGD:1346951	D	RGD:9068941	20230615	RGD		DNA:SNP:exon 6: p.R239Q G>A (rs3733890) (human)	PMID:37203835|REF_RGD_ID:329853743
8720450	Bhmt	betaine--homocysteine S-methyltransferase	gene	DOID:9667	placental abruption		ISO	RGD:1346951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17376725
8720467	Il17rd	interleukin 17 receptor D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8720467	Il17rd	interleukin 17 receptor D	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral arteriovenous malformation	PMID:25741868
8720467	Il17rd	interleukin 17 receptor D	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1353408	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
8720467	Il17rd	interleukin 17 receptor D	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868|PMID:28492532
8720467	Il17rd	interleukin 17 receptor D	gene	DOID:0090076	hypogonadotropic hypogonadism 18 with or without anosmia		ISO	RGD:1353408	D	RGD:7240710	20180130	OMIM			
8720467	Il17rd	interleukin 17 receptor D	gene	DOID:0090076	hypogonadotropic hypogonadism 18 with or without anosmia		ISO	RGD:1353408	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with or without anosmia | ClinVar Annotator: match by term: IL17RD-related condition	PMID:25741868|PMID:28492532|PMID:36259570
8720467	Il17rd	interleukin 17 receptor D	gene	DOID:10534	stomach cancer		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8720467	Il17rd	interleukin 17 receptor D	gene	DOID:1115	sarcoma		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8720467	Il17rd	interleukin 17 receptor D	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868|PMID:28492532
8720467	Il17rd	interleukin 17 receptor D	gene	DOID:1924	hypogonadism		ISO	RGD:1353408	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868
8720467	Il17rd	interleukin 17 receptor D	gene	DOID:3070	high grade glioma		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8720467	Il17rd	interleukin 17 receptor D	gene	DOID:4362	cervical cancer		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8720467	Il17rd	interleukin 17 receptor D	gene	DOID:5041	esophageal cancer		ISO	RGD:1353408	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8720467	Il17rd	interleukin 17 receptor D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720467	Il17rd	interleukin 17 receptor D	gene	DOID:9000998	Brain Injuries		ISO	RGD:1353408	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23159883
8720467	Il17rd	interleukin 17 receptor D	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25636053
8720467	Il17rd	interleukin 17 receptor D	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1353408	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16474841
8720467	Il17rd	interleukin 17 receptor D	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8720467	Il17rd	interleukin 17 receptor D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8720484	Spdl1	spindle apparatus coiled-coil protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8720484	Spdl1	spindle apparatus coiled-coil protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8720484	Spdl1	spindle apparatus coiled-coil protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8720484	Spdl1	spindle apparatus coiled-coil protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1606284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8720484	Spdl1	spindle apparatus coiled-coil protein 1	gene	DOID:1909	melanoma		ISO	RGD:1606284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8720484	Spdl1	spindle apparatus coiled-coil protein 1	gene	DOID:3275	thymoma		ISO	RGD:1606284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8720484	Spdl1	spindle apparatus coiled-coil protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8720484	Spdl1	spindle apparatus coiled-coil protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8720484	Spdl1	spindle apparatus coiled-coil protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8720484	Spdl1	spindle apparatus coiled-coil protein 1	gene	DOID:9008539	Perinatal Death		ISO	RGD:1606284	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal death	
8720484	Spdl1	spindle apparatus coiled-coil protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8720519	Gip	gastric inhibitory polypeptide	gene	DOID:11465	autonomic nervous system disease		ISO	RGD:1353884	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human)	PMID:18376350|REF_RGD_ID:2312592
8720519	Gip	gastric inhibitory polypeptide	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1353884	D	RGD:9068941	20200609	RGD		associated with Obesity; protein:increased expression:plasma (human)	PMID:19375579|REF_RGD_ID:2312588
8720519	Gip	gastric inhibitory polypeptide	gene	DOID:1459	hypothyroidism		ISO	RGD:2709	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:9030821|REF_RGD_ID:2312549
8720519	Gip	gastric inhibitory polypeptide	gene	DOID:2018	hyperinsulinism		ISO	RGD:2709	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma (rat)	PMID:8059006|REF_RGD_ID:2312550
8720519	Gip	gastric inhibitory polypeptide	gene	DOID:26	pancreas disease		ISO	RGD:2709	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:3892654|REF_RGD_ID:2312553
8720519	Gip	gastric inhibitory polypeptide	gene	DOID:4195	hyperglycemia		ISO	RGD:1353884	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human)	PMID:19174495|REF_RGD_ID:2312590
8720519	Gip	gastric inhibitory polypeptide	gene	DOID:9001109	Anorexia		ISO	RGD:1353884	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28633506|PMID:28666375|PMID:29689362
8720519	Gip	gastric inhibitory polypeptide	gene	DOID:9005587	Starvation		ISO	RGD:2709	D	RGD:9068941	20200609	RGD		protein:increased expression:duodenum, jejunum (rat)	PMID:6140913|REF_RGD_ID:2312554
8720519	Gip	gastric inhibitory polypeptide	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2709	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina (rat)	PMID:12789546|REF_RGD_ID:2312548
8720519	Gip	gastric inhibitory polypeptide	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1353884	D	RGD:9068941	20200609	RGD			PMID:19473824|REF_RGD_ID:2312587
8720519	Gip	gastric inhibitory polypeptide	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1353884	D	RGD:9068941	20200609	RGD		disease in rat treated with human protein	PMID:19126188|REF_RGD_ID:2312591
8720519	Gip	gastric inhibitory polypeptide	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1552008	D	RGD:9068941	20200609	RGD			PMID:18937625|REF_RGD_ID:2312589
8720519	Gip	gastric inhibitory polypeptide	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2709	D	RGD:9068941	20200609	RGD			PMID:19056762|REF_RGD_ID:2312529
8720519	Gip	gastric inhibitory polypeptide	gene	DOID:9970	obesity		ISO	RGD:1353884	D	RGD:9068941	20200609	RGD			PMID:3546047|REF_RGD_ID:2312551
8720519	Gip	gastric inhibitory polypeptide	gene	DOID:9970	obesity		ISO	RGD:1353884	D	RGD:9068941	20200609	RGD		associated with Polycystic Ovary Syndrome; protein:increased expression:plasma (human)	PMID:19375579|REF_RGD_ID:2312588
8720519	Gip	gastric inhibitory polypeptide	gene	DOID:9970	obesity		ISO	RGD:2709	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:18063845|REF_RGD_ID:2312547
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:0060058	lymphoma		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:24033266|PMID:25741868|PMID:28492532
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:1316230	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:0080855	Parkinsonism		ISO	RGD:1307189	D	RGD:9068941	20200609	RGD			PMID:18534259|REF_RGD_ID:2302392
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:0081144	common variable immunodeficiency 1		ISO	RGD:1316230	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Immunodeficiency, common variable, 1	
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:0081152	common variable immunodeficiency 10		ISO	RGD:1316230	D	RGD:7240710	20190327	OMIM			
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:0081152	common variable immunodeficiency 10		ISO	RGD:1316230	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Common variable immunodeficiency 10 | ClinVar Annotator: match by term: DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY | ClinVar Annotator: match by term: IMMUNODEFICIENCY, COMMON VARIABLE, 10 | ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 | ClinVar Annotator: match by term: NFKB2-related disorder	PMID:16199547|PMID:16303288|PMID:17576681|PMID:24033266|PMID:24140114|PMID:24702956|PMID:25237204|PMID:2537204|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28472507|PMID:28492532|PMID:28778864|PMID:29921932|PMID:30697212|PMID:30941118|PMID:31417880|PMID:32506361|PMID:32888943|PMID:34619682|PMID:34975878|PMID:35753512|PMID:9536098
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:24033266|PMID:25741868|PMID:28492532
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:24033266|PMID:25741868|PMID:28492532
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:12155	lymphocytic choriomeningitis	disease_progression	ISO	RGD:1316231	D	RGD:9068941	20201218	RGD			PMID:20565293|REF_RGD_ID:40902858
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:12177	common variable immunodeficiency		ISO	RGD:1316230	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:12177	common variable immunodeficiency		ISO	RGD:1316231	D	RGD:9068941	20250724	MouseDO		OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767	
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:12306	vitiligo		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vitiligo	PMID:25741868
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:24033266|PMID:25741868|PMID:28492532
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:3275	thymoma		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:24033266|PMID:25741868|PMID:28492532
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316230	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:24033266|PMID:25741868|PMID:28492532
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1316230	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:25741868
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:28492532
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:649	prion disease		ISO	RGD:1316231	D	RGD:9068941	20201218	RGD			PMID:17573907|REF_RGD_ID:40902830
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:6741	bilateral breast cancer		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: bilateral breast cancer	PMID:25741868|PMID:28492532
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:8929	atrophic gastritis		ISO	RGD:1316231	D	RGD:9068941	20201218	RGD		associated with Helicobacter Infections	PMID:23975431|REF_RGD_ID:40902973
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:9001455	Intestinal Helminthiasis	treatment	ISO	RGD:1316231	D	RGD:9068941	20201225	RGD			PMID:12370384|REF_RGD_ID:40902988
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1307189	D	RGD:9068941	20200609	RGD		protein:increased activity:striatum	PMID:17250675|REF_RGD_ID:2302394
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:9002884	Emphysema		ISO	RGD:1316230	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Emphysema	PMID:25741868
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1316230	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colonic neoplasm	PMID:25741868
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:9004649	Heat Stroke		ISO	RGD:1316230	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24039931
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:9005616	Micrognathism		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28492532
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1307189	D	RGD:9068941	20200609	RGD			PMID:18633731|REF_RGD_ID:2298775
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8720526	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:24033266|PMID:25741868|PMID:28492532
8720560	Exosc2	exosome component 2	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1315266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
8720560	Exosc2	exosome component 2	gene	DOID:0081175	short stature, hearing loss, retinitis pigmentosa, and distinctive facies		ISO	RGD:1315266	D	RGD:7240710	20190315	OMIM			
8720560	Exosc2	exosome component 2	gene	DOID:0081175	short stature, hearing loss, retinitis pigmentosa, and distinctive facies		ISO	RGD:1315266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EXOSC2-related condition | ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	PMID:14647208|PMID:15060126|PMID:24447024|PMID:25741868|PMID:26843489|PMID:28492532|PMID:31628467|PMID:34162742
8720560	Exosc2	exosome component 2	gene	DOID:1324	lung cancer		ISO	RGD:1315266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8720560	Exosc2	exosome component 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8720560	Exosc2	exosome component 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8720560	Exosc2	exosome component 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720560	Exosc2	exosome component 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8720560	Exosc2	exosome component 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1315266	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
8720560	Exosc2	exosome component 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1315266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
8720560	Exosc2	exosome component 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8720573	Alg12	ALG12 alpha-1,6-mannosyltransferase	gene	DOID:0080559	congenital disorder of glycosylation Ig		ISO	RGD:1312492	D	RGD:7240710	20180130	OMIM			
8720573	Alg12	ALG12 alpha-1,6-mannosyltransferase	gene	DOID:0080559	congenital disorder of glycosylation Ig		ISO	RGD:1312492	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation | ClinVar Annotator: match by term: ALG12-related disorder | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ig	PMID:11983712|PMID:12217961|PMID:15639192|PMID:16199547|PMID:16435218|PMID:17506107|PMID:17576681|PMID:21029365|PMID:21315133|PMID:25019053|PMID:25741868|PMID:28492532|PMID:30266093|PMID:31481313|PMID:33461977|PMID:35279850|PMID:36064943|PMID:38959600|PMID:9536098
8720573	Alg12	ALG12 alpha-1,6-mannosyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1312492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8720573	Alg12	ALG12 alpha-1,6-mannosyltransferase	gene	DOID:11836	clubfoot		ISO	RGD:1312492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:15639192|PMID:25019053|PMID:28492532|PMID:31481313
8720573	Alg12	ALG12 alpha-1,6-mannosyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1312492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8720573	Alg12	ALG12 alpha-1,6-mannosyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1312492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8720573	Alg12	ALG12 alpha-1,6-mannosyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1312492	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8720573	Alg12	ALG12 alpha-1,6-mannosyltransferase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8720573	Alg12	ALG12 alpha-1,6-mannosyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1312492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8720573	Alg12	ALG12 alpha-1,6-mannosyltransferase	gene	DOID:9003279	Joint Dislocations		ISO	RGD:1312492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint dislocation	PMID:15639192|PMID:25019053|PMID:28492532|PMID:31481313
8720573	Alg12	ALG12 alpha-1,6-mannosyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8720573	Alg12	ALG12 alpha-1,6-mannosyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8720593	Ppp1r18	protein phosphatase 1 regulatory subunit 18	gene	DOID:10534	stomach cancer		ISO	RGD:1319936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8720593	Ppp1r18	protein phosphatase 1 regulatory subunit 18	gene	DOID:1115	sarcoma		ISO	RGD:1319936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8720593	Ppp1r18	protein phosphatase 1 regulatory subunit 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1319936	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8720593	Ppp1r18	protein phosphatase 1 regulatory subunit 18	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8720593	Ppp1r18	protein phosphatase 1 regulatory subunit 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720593	Ppp1r18	protein phosphatase 1 regulatory subunit 18	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1319936	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8720593	Ppp1r18	protein phosphatase 1 regulatory subunit 18	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1319936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8720593	Ppp1r18	protein phosphatase 1 regulatory subunit 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8720602	Dmbx1	diencephalon/mesencephalon homeobox 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8720602	Dmbx1	diencephalon/mesencephalon homeobox 1	gene	DOID:540	strabismus		ISO	RGD:1317940	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Strabismus	
8720602	Dmbx1	diencephalon/mesencephalon homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720614	Prdm13	PR/SET domain 13	gene	DOID:0070439	North Carolina macular dystrophy		ISO	RGD:1322406	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE | ClinVar Annotator: match by term: North Carolina macular dystrophy	PMID:25741868|PMID:26507665|PMID:28492532
8720614	Prdm13	PR/SET domain 13	gene	DOID:630	genetic disease		ISO	RGD:1322406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8720614	Prdm13	PR/SET domain 13	gene	DOID:8501	fundus dystrophy		ISO	RGD:1322406	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:26507665|PMID:27551809|PMID:28492532|PMID:31043363|PMID:31814698|PMID:33785507|PMID:34125159|PMID:34895015
8720614	Prdm13	PR/SET domain 13	gene	DOID:9002530	pontocerebellar hypoplasia type 17		ISO	RGD:1322406	D	RGD:7240710	20220629	OMIM			
8720614	Prdm13	PR/SET domain 13	gene	DOID:9002530	pontocerebellar hypoplasia type 17		ISO	RGD:1322406	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 17	
8720614	Prdm13	PR/SET domain 13	gene	DOID:9003751	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM		ISO	RGD:1322406	D	RGD:7240710	20220316	OMIM			
8720614	Prdm13	PR/SET domain 13	gene	DOID:9003751	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM		ISO	RGD:1322406	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM | ClinVar Annotator: match by term: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: PRDM13-related condition	PMID:25741868|PMID:28492532
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:730975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:730975	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12145768
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:0050735	X-linked monogenic disease		ISO	RGD:730975	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19703807
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:0050811	congenital adrenal hyperplasia		ISO	RGD:730975	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17218722
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:0081060	X-linked nephrogenic diabetes insipidus		ISO	RGD:730975	D	RGD:7240710	20210630	OMIM			
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:0081060	X-linked nephrogenic diabetes insipidus		ISO	RGD:730975	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AVPR2-related condition | ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, X-linked | ClinVar Annotator: match by term: Nephrogenic Diabetes Insipidus, Type I	PMID:10477148|PMID:10526945|PMID:10644689|PMID:10770218|PMID:10820168|PMID:11916004|PMID:12955588|PMID:1303257|PMID:1303271|PMID:1356229|PMID:15872203|PMID:16845277|PMID:17020465|PMID:18726898|PMID:19587238|PMID:20403097|PMID:22144672|PMID:22644838|PMID:23762448|PMID:24622440|PMID:25324589|PMID:25741868|PMID:26467025|PMID:27355191|PMID:27601473|PMID:27884173|PMID:28492532|PMID:29594432|PMID:30073107|PMID:30976394|PMID:32073219|PMID:32903920|PMID:33009446|PMID:33532864|PMID:34101133|PMID:34839503|PMID:34956990|PMID:35028265|PMID:35368817|PMID:38622833|PMID:7714087|PMID:7833930|PMID:7913579|PMID:7933835|PMID:7984150|PMID:7987330|PMID:7989330|PMID:8037205|PMID:8078903|PMID:8104196|PMID:8267567|PMID:9027323|PMID:9171234|PMID:9402087|PMID:9587067|PMID:9711877|PMID:9853256
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:0112121	nephrogenic syndrome of inappropriate antidiuresis		ISO	RGD:730975	D	RGD:7240710	20180130	OMIM			
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:0112121	nephrogenic syndrome of inappropriate antidiuresis		ISO	RGD:730975	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS | ClinVar Annotator: match by term: Nephrogenic syndrome of inappropriate antidiuresis	PMID:10477148|PMID:10820168|PMID:11095010|PMID:11134505|PMID:11232028|PMID:11754100|PMID:11916004|PMID:11920339|PMID:1303257|PMID:1303271|PMID:15166253|PMID:15872203|PMID:16319185|PMID:16580609|PMID:16825342|PMID:16843086|PMID:16845277|PMID:17020465|PMID:17229917|PMID:18753429|PMID:19179480|PMID:19587238|PMID:20148077|PMID:20159941|PMID:22144672|PMID:24622440|PMID:25324589|PMID:25741868|PMID:26467025|PMID:26715131|PMID:27117808|PMID:27355191|PMID:27601473|PMID:28492532|PMID:29398133|PMID:29546600|PMID:29594432|PMID:33996673|PMID:34101133|PMID:34645113|PMID:7714087|PMID:7833930|PMID:7920187|PMID:7933835|PMID:7984150|PMID:7987330|PMID:8037205|PMID:8104196|PMID:8999963|PMID:9027323|PMID:9171234|PMID:9452109|PMID:9711877
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:10763	hypertension	severity	ISO	RGD:2186	D	RGD:9068941	20200609	RGD			PMID:12072411|REF_RGD_ID:1298694
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:405877913	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:28492532|PMID:35384376|PMID:9384614
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:12387	nephrogenic diabetes insipidus		ISO	RGD:730975	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic | ClinVar Annotator: match by term: Nephrogenic Diabetes Insipidus | ClinVar Annotator: match by term: Nephrogenic diabetes insipidus	PMID:10026829|PMID:10714359|PMID:10749568|PMID:10770218|PMID:10820168|PMID:10918636|PMID:11095010|PMID:11128419|PMID:11134505|PMID:11232028|PMID:11754100|PMID:11916004|PMID:11920339|PMID:1303257|PMID:1303271|PMID:15166253|PMID:15522100|PMID:15841479|PMID:16319185|PMID:16502494|PMID:16580609|PMID:16689923|PMID:16825342|PMID:16843086|PMID:16845277|PMID:17216256|PMID:17491025|PMID:18407239|PMID:18726898|PMID:19179480|PMID:19729439|PMID:19812297|PMID:20159941|PMID:20301356|PMID:25741868|PMID:26467025|PMID:26920127|PMID:27355191|PMID:28492532|PMID:29398133|PMID:29546600|PMID:33996673|PMID:7541187|PMID:7833930|PMID:7913579|PMID:7920187|PMID:7933835|PMID:7984150|PMID:8037205|PMID:8104196|PMID:8401502|PMID:8704106|PMID:8766931|PMID:8815789|PMID:8999963|PMID:9402087|PMID:9452109|PMID:9711877|PMID:9773787|PMID:9853256
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:1324	lung cancer		ISO	RGD:730975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:1826	epilepsy		ISO	RGD:730975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:15872203|PMID:17229917|PMID:18753429|PMID:20148077|PMID:20159941|PMID:25741868|PMID:26715131|PMID:27117808|PMID:27355191|PMID:29546600|PMID:34645113|PMID:8104196
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:5199	ureteral obstruction		ISO	RGD:2186	D	RGD:9068941	20200609	RGD			PMID:18971210|REF_RGD_ID:2312654
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:6000	congestive heart failure		ISO	RGD:730975	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12145768
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:630	genetic disease		ISO	RGD:730975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10820168|PMID:1303257|PMID:19587238|PMID:22144672|PMID:25741868|PMID:25937802|PMID:26077742|PMID:28492532
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:730975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:15872203|PMID:17229917|PMID:18753429|PMID:20148077|PMID:20159941|PMID:25741868|PMID:26715131|PMID:27117808|PMID:27355191|PMID:29546600|PMID:34645113|PMID:8104196
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:9005077	Joint Instability		ISO	RGD:730975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:15872203|PMID:17229917|PMID:18753429|PMID:20148077|PMID:20159941|PMID:25741868|PMID:26715131|PMID:27117808|PMID:27355191|PMID:29546600|PMID:34645113|PMID:8104196
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:9005274	Polyuria		ISO	RGD:730975	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Polyuria	PMID:10770218|PMID:11916004|PMID:1303257|PMID:18726898|PMID:23762448|PMID:25741868|PMID:27355191|PMID:28492532|PMID:30073107|PMID:34101133|PMID:34839503|PMID:35028265|PMID:8037205|PMID:9711877
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:9006257	Growth Disorders		ISO	RGD:730975	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19703807
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:9006635	Hyponatremia		ISO	RGD:730975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyponatremia	PMID:15872203|PMID:17229917|PMID:18753429|PMID:20148077|PMID:20159941|PMID:25741868|PMID:26715131|PMID:27117808|PMID:27355191|PMID:29546600|PMID:34645113|PMID:8104196
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:9006727	Polydipsia		ISO	RGD:730975	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Polydipsia	PMID:10770218|PMID:11916004|PMID:1303257|PMID:18726898|PMID:23762448|PMID:25741868|PMID:27355191|PMID:28492532|PMID:30073107|PMID:34101133|PMID:34839503|PMID:35028265|PMID:8037205|PMID:9711877
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25902753|PMID:28492532
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:9007661	Dwarfism		ISO	RGD:730975	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:1303257|PMID:18726898|PMID:23762448|PMID:25741868|PMID:27355191|PMID:28492532|PMID:34101133|PMID:34839503|PMID:35028265|PMID:8037205|PMID:9711877
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:730975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:15872203|PMID:17229917|PMID:18753429|PMID:20148077|PMID:20159941|PMID:25741868|PMID:26715131|PMID:27117808|PMID:27355191|PMID:29546600|PMID:34645113|PMID:8104196
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:9008760	Oliguria		ISO	RGD:730975	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7977526
8720634	Avpr2	arginine vasopressin receptor 2	gene	DOID:9409	diabetes insipidus		ISO	RGD:730975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	PMID:10770218|PMID:11916004|PMID:25741868|PMID:28492532|PMID:29594432|PMID:30073107|PMID:32939031|PMID:8037205
8720662	Yipf5	Yip1 domain family member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8720662	Yipf5	Yip1 domain family member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8720662	Yipf5	Yip1 domain family member 5	gene	DOID:4362	cervical cancer		ISO	RGD:1602093	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8720662	Yipf5	Yip1 domain family member 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1602093	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8720662	Yipf5	Yip1 domain family member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720662	Yipf5	Yip1 domain family member 5	gene	DOID:9007409	Microcephaly, Epilepsy, and Diabetes Syndrome 2		ISO	RGD:1602093	D	RGD:7240710	20210505	OMIM			
8720662	Yipf5	Yip1 domain family member 5	gene	DOID:9007409	Microcephaly, Epilepsy, and Diabetes Syndrome 2		ISO	RGD:1602093	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2 | ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 2	PMID:25741868
8720662	Yipf5	Yip1 domain family member 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8720686	Hemk2	HemK methyltransferase 2, ETF1 glutamine and histone H4 lysine	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8720686	Hemk2	HemK methyltransferase 2, ETF1 glutamine and histone H4 lysine	gene	DOID:5041	esophageal cancer		ISO	RGD:1323512	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8720686	Hemk2	HemK methyltransferase 2, ETF1 glutamine and histone H4 lysine	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720686	Hemk2	HemK methyltransferase 2, ETF1 glutamine and histone H4 lysine	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8720686	Hemk2	HemK methyltransferase 2, ETF1 glutamine and histone H4 lysine	gene	DOID:9256	colorectal cancer		ISO	RGD:1323512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8720712	Uba52	ubiquitin A-52 residue ribosomal protein fusion product 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:68482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8720712	Uba52	ubiquitin A-52 residue ribosomal protein fusion product 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8720712	Uba52	ubiquitin A-52 residue ribosomal protein fusion product 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8720712	Uba52	ubiquitin A-52 residue ribosomal protein fusion product 1	gene	DOID:1520	colon carcinoma		ISO	RGD:68482	D	RGD:9068941	20200609	RGD		mRNA:increased expression:colonic mucosa (human)	PMID:8541345|REF_RGD_ID:11352739
8720712	Uba52	ubiquitin A-52 residue ribosomal protein fusion product 1	gene	DOID:1909	melanoma		ISO	RGD:68482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8720712	Uba52	ubiquitin A-52 residue ribosomal protein fusion product 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720712	Uba52	ubiquitin A-52 residue ribosomal protein fusion product 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:68344	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:cerebral cortex, hippocampus (rat)	PMID:17936732|REF_RGD_ID:11041870
8720712	Uba52	ubiquitin A-52 residue ribosomal protein fusion product 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:68482	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;protein:increased expression:urine (human)	PMID:17634209|REF_RGD_ID:2311211
8720712	Uba52	ubiquitin A-52 residue ribosomal protein fusion product 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8720712	Uba52	ubiquitin A-52 residue ribosomal protein fusion product 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8720712	Uba52	ubiquitin A-52 residue ribosomal protein fusion product 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8720735	Ccdc80	coiled-coil domain containing 80	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8720735	Ccdc80	coiled-coil domain containing 80	gene	DOID:0080600	COVID-19		ISO	RGD:736330	D	RGD:9068941	20200613	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8720735	Ccdc80	coiled-coil domain containing 80	gene	DOID:1909	melanoma		ISO	RGD:736330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8720735	Ccdc80	coiled-coil domain containing 80	gene	DOID:3310	atopic dermatitis		ISO	RGD:736330	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23042114
8720735	Ccdc80	coiled-coil domain containing 80	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720735	Ccdc80	coiled-coil domain containing 80	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8720735	Ccdc80	coiled-coil domain containing 80	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736330	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8720735	Ccdc80	coiled-coil domain containing 80	gene	DOID:9256	colorectal cancer		ISO	RGD:736330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8720757	Amacr	alpha-methylacyl-CoA racemase	gene	DOID:0060602	alpha-methylacyl-CoA racemase deficiency		ISO	RGD:735888	D	RGD:7240710	20180130	OMIM			
8720757	Amacr	alpha-methylacyl-CoA racemase	gene	DOID:0060602	alpha-methylacyl-CoA racemase deficiency		ISO	RGD:735888	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency	PMID:28492532
8720757	Amacr	alpha-methylacyl-CoA racemase	gene	DOID:0111068	congenital bile acid synthesis defect 4		ISO	RGD:735888	D	RGD:7240710	20180130	OMIM			
8720757	Amacr	alpha-methylacyl-CoA racemase	gene	DOID:11054	urinary bladder cancer	severity	ISO	RGD:735888	D	RGD:9068941	20200609	RGD			PMID:18648853|REF_RGD_ID:2315629
8720757	Amacr	alpha-methylacyl-CoA racemase	gene	DOID:2477	motor peripheral neuropathy		ISO	RGD:735888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10655068
8720757	Amacr	alpha-methylacyl-CoA racemase	gene	DOID:3459	breast carcinoma	severity	ISO	RGD:735888	D	RGD:9068941	20200609	RGD			PMID:15941950|REF_RGD_ID:2315635
8720757	Amacr	alpha-methylacyl-CoA racemase	gene	DOID:409	liver disease		ISO	RGD:735888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12512044
8720757	Amacr	alpha-methylacyl-CoA racemase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:735888	D	RGD:9068941	20200609	RGD			PMID:14707866|REF_RGD_ID:2315633
8720757	Amacr	alpha-methylacyl-CoA racemase	gene	DOID:657	adenoma		ISO	RGD:735888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17684125
8720757	Amacr	alpha-methylacyl-CoA racemase	gene	DOID:8634	prostate carcinoma in situ	disease_progression	ISO	RGD:735888	D	RGD:9068941	20200609	RGD			PMID:18343427|REF_RGD_ID:2315630
8720757	Amacr	alpha-methylacyl-CoA racemase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980|PMID:25380136
8720757	Amacr	alpha-methylacyl-CoA racemase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17173048|PMID:22919386|PMID:24763052
8720757	Amacr	alpha-methylacyl-CoA racemase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735888	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:prostate gland	PMID:20003233|REF_RGD_ID:2315628
8720757	Amacr	alpha-methylacyl-CoA racemase	gene	DOID:9004643	Urologic Neoplasms	disease_progression	ISO	RGD:735888	D	RGD:9068941	20200609	RGD			PMID:16315020|REF_RGD_ID:2315632
8720757	Amacr	alpha-methylacyl-CoA racemase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:735888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17684125
8720790	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8720790	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:1115	sarcoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8720790	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:1324	lung cancer		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8720790	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:1909	melanoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8720790	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8720790	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:2394	ovarian cancer		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8720790	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:3275	thymoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8720790	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8720790	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:4362	cervical cancer		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8720790	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:5041	esophageal cancer		ISO	RGD:1322714	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8720790	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720790	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8720790	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8720790	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8720790	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8720813	Pros1	protein S	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1342781	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:34142820
8720813	Pros1	protein S	gene	DOID:0060903	thrombosis		ISO	RGD:1342781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombosis	PMID:25741868
8720813	Pros1	protein S	gene	DOID:0111900	autosomal dominant thrombophilia due to protein S deficiency		ISO	RGD:1342781	D	RGD:7240710	20180130	OMIM			
8720813	Pros1	protein S	gene	DOID:0111900	autosomal dominant thrombophilia due to protein S deficiency		ISO	RGD:1342781	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PROS1-related condition | ClinVar Annotator: match by term: Reduced protein S activity | ClinVar Annotator: match by term: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal dominant	PMID:10063989|PMID:10447256|PMID:10613647|PMID:10790208|PMID:11019964|PMID:11776305|PMID:12681974|PMID:15238143|PMID:15712227|PMID:16199547|PMID:17576681|PMID:17849042|PMID:18322254|PMID:18954896|PMID:19437370|PMID:20181378|PMID:20880255|PMID:21172841|PMID:21486865|PMID:21764702|PMID:21811774|PMID:22166512|PMID:22261441|PMID:23813890|PMID:24014240|PMID:24055113|PMID:24162787|PMID:25637381|PMID:25741868|PMID:26466767|PMID:27667277|PMID:27748013|PMID:28492532|PMID:29225857|PMID:29296762|PMID:29321366|PMID:29748776|PMID:30543986|PMID:30669159|PMID:31064749|PMID:32964666|PMID:33537542|PMID:34355501|PMID:34426522|PMID:34533296|PMID:34729451|PMID:34939974|PMID:35815065|PMID:37647632|PMID:38469768|PMID:39409046|PMID:7545463|PMID:7579449|PMID:7803790|PMID:8113388|PMID:8639833|PMID:8765219|PMID:8781426|PMID:8865520|PMID:9207399|PMID:9241758|PMID:9536098
8720813	Pros1	protein S	gene	DOID:0111902	thrombophilia due to activated protein C resistance		ISO	RGD:1342781	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11703344
8720813	Pros1	protein S	gene	DOID:0111905	autosomal recessive thrombophilia due to protein S deficiency		ISO	RGD:1342781	D	RGD:7240710	20180130	OMIM			
8720813	Pros1	protein S	gene	DOID:0111905	autosomal recessive thrombophilia due to protein S deficiency		ISO	RGD:1342781	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive	PMID:10063989|PMID:10456456|PMID:10613646|PMID:10613647|PMID:10706858|PMID:10790208|PMID:11776305|PMID:15238143|PMID:15712227|PMID:15712777|PMID:15978566|PMID:16199547|PMID:16409486|PMID:1671337|PMID:16953283|PMID:16961607|PMID:17157360|PMID:17576681|PMID:18242167|PMID:18322254|PMID:18435454|PMID:18954896|PMID:19437370|PMID:19826897|PMID:20181378|PMID:20421270|PMID:20484936|PMID:20880255|PMID:21172841|PMID:21486865|PMID:21764424|PMID:21764702|PMID:21811774|PMID:22261441|PMID:22290026|PMID:22627591|PMID:23813890|PMID:24014240|PMID:2521801|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26046366|PMID:26466767|PMID:27667277|PMID:27748013|PMID:28088608|PMID:28174134|PMID:28492532|PMID:28607330|PMID:29296762|PMID:29321366|PMID:29748776|PMID:30669159|PMID:31064749|PMID:31068512|PMID:31335064|PMID:31422373|PMID:32964666|PMID:33537542|PMID:34355501|PMID:34496879|PMID:34533296|PMID:34729451|PMID:35231993|PMID:35815065|PMID:37647632|PMID:39409046|PMID:7482398|PMID:7545463|PMID:7579449|PMID:7803790|PMID:8616098|PMID:8639833|PMID:8765219|PMID:8781426|PMID:8841302|PMID:8865520|PMID:8943854|PMID:9031442|PMID:9031443|PMID:9241758|PMID:9536098
8720813	Pros1	protein S	gene	DOID:10534	stomach cancer		ISO	RGD:1342781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8720813	Pros1	protein S	gene	DOID:11162	respiratory failure		ISO	RGD:1342781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:25741868|PMID:28492532
8720813	Pros1	protein S	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1342781	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
8720813	Pros1	protein S	gene	DOID:1247	blood coagulation disease		ISO	RGD:1550610	D	RGD:9068941	20200609	RGD			PMID:19729839|REF_RGD_ID:11250417
8720813	Pros1	protein S	gene	DOID:1324	lung cancer		ISO	RGD:1342781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8720813	Pros1	protein S	gene	DOID:178	vascular disease		ISO	RGD:1550610	D	RGD:9068941	20200609	RGD			PMID:19729839|REF_RGD_ID:11250417
8720813	Pros1	protein S	gene	DOID:1909	melanoma		ISO	RGD:1342781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8720813	Pros1	protein S	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1342781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:25741868|PMID:28492532|PMID:31064749|PMID:8943854|PMID:9651142
8720813	Pros1	protein S	gene	DOID:2451	protein S deficiency		ISO	RGD:1342781	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Protein S Deficiency | ClinVar Annotator: match by term: Protein S deficiency | ClinVar Annotator: match by term: Protein S deficiency disease	PMID:10063989|PMID:10607700|PMID:10790208|PMID:10811787|PMID:11127877|PMID:11776305|PMID:11858485|PMID:15712227|PMID:15978566|PMID:16461766|PMID:16961608|PMID:18322254|PMID:18954896|PMID:19437370|PMID:19826897|PMID:20398916|PMID:20811787|PMID:20880255|PMID:21285903|PMID:21811774|PMID:22627591|PMID:22951146|PMID:23813890|PMID:24014240|PMID:24055113|PMID:24233386|PMID:25637381|PMID:25741868|PMID:26251307|PMID:26372516|PMID:26466767|PMID:26985940|PMID:27535533|PMID:27660039|PMID:28492532|PMID:29321366|PMID:30349894|PMID:30669159|PMID:31064749|PMID:31335064|PMID:32964666|PMID:34355501|PMID:34426522|PMID:34533296|PMID:34729451|PMID:35626216|PMID:35815065|PMID:7579449|PMID:8298131|PMID:8765219|PMID:8865520|PMID:9031443|PMID:9241758
8720813	Pros1	protein S	gene	DOID:2451	protein S deficiency	no_association	ISO	RGD:1342781	D	RGD:9068941	20200609	RGD		DNA:SNPs: : c.1016T>A, c.1138A>C (human)	PMID:22261441|REF_RGD_ID:11250419
8720813	Pros1	protein S	gene	DOID:2452	thrombophilia		ISO	RGD:1342781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombophilia	PMID:25741868
8720813	Pros1	protein S	gene	DOID:3526	cerebral infarction		ISO	RGD:1342781	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.R355C (1063C>T) (human)	PMID:21172841|REF_RGD_ID:11250416
8720813	Pros1	protein S	gene	DOID:3576	sagittal sinus thrombosis		ISO	RGD:1342781	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18382986
8720813	Pros1	protein S	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8720813	Pros1	protein S	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8720813	Pros1	protein S	gene	DOID:4193	intracranial thrombosis		ISO	RGD:1342781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral thrombosis	PMID:10613647|PMID:15712227|PMID:25741868|PMID:26466767|PMID:28492532|PMID:34533296|PMID:8639833
8720813	Pros1	protein S	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8720813	Pros1	protein S	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8720813	Pros1	protein S	gene	DOID:5041	esophageal cancer		ISO	RGD:1342781	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8720813	Pros1	protein S	gene	DOID:5723	optic atrophy		ISO	RGD:1342781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8720813	Pros1	protein S	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720813	Pros1	protein S	gene	DOID:576	proteinuria		ISO	RGD:1342781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: proteinuria	
8720813	Pros1	protein S	gene	DOID:6000	congestive heart failure		ISO	RGD:1342781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congestive heart failure	PMID:10077735|PMID:20880255
8720813	Pros1	protein S	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8720813	Pros1	protein S	gene	DOID:630	genetic disease		ISO	RGD:1342781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8720813	Pros1	protein S	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1342781	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8720813	Pros1	protein S	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8720813	Pros1	protein S	gene	DOID:8501	fundus dystrophy		ISO	RGD:1342781	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10613647|PMID:15712227|PMID:22627591|PMID:25741868|PMID:28492532|PMID:29296762|PMID:33537542|PMID:7803790
8720813	Pros1	protein S	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:620971	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver, plasma	PMID:16995903|REF_RGD_ID:2300011
8720813	Pros1	protein S	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1342781	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney, glomerulus	PMID:29511111|REF_RGD_ID:13515131
8720813	Pros1	protein S	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:620971	D	RGD:9068941	20200609	RGD		associated with diabetes mellitus, experimental;mRNA, protein:increased expression:kidney, glomerulus	PMID:29511111|REF_RGD_ID:13515131
8720813	Pros1	protein S	gene	DOID:9002165	Diabetic Nephropathies	severity	ISO	RGD:1550610	D	RGD:9068941	20200609	RGD		associated with diabetes mellitus, experimental	PMID:29511111|REF_RGD_ID:13515131
8720813	Pros1	protein S	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:1342781	D	RGD:9068941	20200609	RGD		associated with diabetes mellitus, experimental	PMID:29511111|REF_RGD_ID:13515131
8720813	Pros1	protein S	gene	DOID:9003121	Thromboembolism		ISO	RGD:1342781	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Thromboembolism	PMID:25741868|PMID:28492532|PMID:31064749
8720813	Pros1	protein S	gene	DOID:9003505	Venous Thromboembolism		ISO	RGD:1342781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Venous thromboembolism	PMID:25741868|PMID:34355501
8720813	Pros1	protein S	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1342781	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Deep Vein Thrombosis | ClinVar Annotator: match by term: Deep vein thrombosis | ClinVar Annotator: match by term: Deep venous thrombosis	PMID:10613647|PMID:15712227|PMID:25637381|PMID:25741868|PMID:26466767|PMID:28492532|PMID:29296762|PMID:31064749|PMID:33537542|PMID:34355501|PMID:7803790|PMID:8765219
8720813	Pros1	protein S	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8720813	Pros1	protein S	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8720813	Pros1	protein S	gene	DOID:9477	pulmonary embolism		ISO	RGD:1342781	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pulmonary embolism | ClinVar Annotator: match by term: pulmonary embolism	PMID:10613647|PMID:11776305|PMID:15712227|PMID:19437370|PMID:25637381|PMID:25741868|PMID:26466767|PMID:28492532|PMID:29296762|PMID:33537542|PMID:34355501|PMID:34533296|PMID:7803790|PMID:8765219
8720833	Armcx3	armadillo repeat containing X-linked 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8720833	Armcx3	armadillo repeat containing X-linked 3	gene	DOID:1909	melanoma		ISO	RGD:1604814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8720833	Armcx3	armadillo repeat containing X-linked 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8720848	Cdca3	cell division cycle associated 3	gene	DOID:0080600	COVID-19		ISO	RGD:1345166	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8720848	Cdca3	cell division cycle associated 3	gene	DOID:4362	cervical cancer		ISO	RGD:1345166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8720848	Cdca3	cell division cycle associated 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720848	Cdca3	cell division cycle associated 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1345166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8720848	Cdca3	cell division cycle associated 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345166	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8720848	Cdca3	cell division cycle associated 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8720862	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8720862	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:0060058	lymphoma		ISO	RGD:1320832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8720862	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:10534	stomach cancer		ISO	RGD:1320832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8720862	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:10608	celiac disease		ISO	RGD:1320832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20190752
8720862	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1320832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8720862	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:2349	arteriosclerosis		ISO	RGD:1320832	D	RGD:9068941	20200609	RGD		protein:increased expression:carotid artery, atherosclerotic lesions (human)	PMID:11742877|REF_RGD_ID:2317295
8720862	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:4362	cervical cancer		ISO	RGD:1320832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8720862	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:5844	myocardial infarction		ISO	RGD:1310115	D	RGD:9068941	20200609	RGD		protein:increased expression:heart, cardiomyocyte, endothelial cell (rat)	PMID:18353719|REF_RGD_ID:2317281
8720862	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1320832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20453842
8720862	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:9000998	Brain Injuries		ISO	RGD:1320832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23159883
8720862	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0050444	infantile Refsum disease		ISO	RGD:1346322	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B	PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:22871920|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28446956|PMID:28468868|PMID:28492532|PMID:30362618|PMID:30561787|PMID:31374812|PMID:31831025|PMID:32056211|PMID:32214227|PMID:9398847|PMID:9398848|PMID:9539740
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0050444	infantile Refsum disease		ISO	RGD:1346322	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile Refsum disease | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD)	PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28446956|PMID:28468868|PMID:28492532|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:31319225|PMID:31374812|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32483926|PMID:32959227|PMID:33083013|PMID:33708531|PMID:33955040|PMID:33955814|PMID:34513757|PMID:34744965|PMID:36046390|PMID:37385119|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0050444	infantile Refsum disease		ISO	RGD:1346322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease	PMID:10447258|PMID:11439091|PMID:16086329|PMID:16141001|PMID:16199547|PMID:19105186|PMID:21031596|PMID:21846392|PMID:2324705|PMID:23247051|PMID:24033266|PMID:25133751|PMID:25741868|PMID:26387595|PMID:26467025|PMID:27231023|PMID:28492532|PMID:28600779|PMID:30561787|PMID:31831025|PMID:32203225|PMID:33708531|PMID:34744965
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0080377	peroxisomal biogenesis disorder		ISO	RGD:1346322	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9398847|PMID:9398848|PMID:9539740
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0080476	peroxisome biogenesis disorder 1A		ISO	RGD:1346322	D	RGD:7240710	20190306	OMIM			
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0080476	peroxisome biogenesis disorder 1A		ISO	RGD:1346322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a	PMID:10447258|PMID:11389485|PMID:11439091|PMID:16086329|PMID:16141001|PMID:16199547|PMID:19105186|PMID:21031596|PMID:21846392|PMID:2324705|PMID:23247051|PMID:24033266|PMID:25133751|PMID:25525159|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26594346|PMID:27090541|PMID:27231023|PMID:27469511|PMID:27882258|PMID:28432012|PMID:28468868|PMID:28492532|PMID:28600779|PMID:28857144|PMID:29419819|PMID:30561787|PMID:31831025|PMID:31964843|PMID:32203225|PMID:32596134|PMID:33708531|PMID:34744965|PMID:37567036|PMID:9398847
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0080623	Heimler syndrome 1		ISO	RGD:1346322	D	RGD:7240710	20180130	OMIM			
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0080623	Heimler syndrome 1		ISO	RGD:1346322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C	PMID:10447258|PMID:11389485|PMID:11439091|PMID:16086329|PMID:16141001|PMID:16199547|PMID:19105186|PMID:21031596|PMID:21846392|PMID:2324705|PMID:23247051|PMID:24033266|PMID:25133751|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26467025|PMID:27231023|PMID:27302843|PMID:27469511|PMID:28492532|PMID:28600779|PMID:30561787|PMID:31831025|PMID:32203225|PMID:33708531|PMID:34744965|PMID:35379322|PMID:9398847
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0081240	peroxisome biogenesis disorder 1B		ISO	RGD:1346322	D	RGD:7240710	20221005	OMIM			
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0081240	peroxisome biogenesis disorder 1B		ISO	RGD:1346322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B	PMID:10447258|PMID:16086329|PMID:16141001|PMID:16199547|PMID:19105186|PMID:21031596|PMID:21846392|PMID:2324705|PMID:23247051|PMID:24033266|PMID:25133751|PMID:25741868|PMID:26387595|PMID:26467025|PMID:28492532|PMID:28600779|PMID:31831025|PMID:32203225|PMID:33708531|PMID:34744965|PMID:9398847
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1346322	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa, syndromic	PMID:10384394|PMID:10447258|PMID:11389485|PMID:12402331|PMID:15098231|PMID:16141001|PMID:19105186|PMID:21031596|PMID:21846392|PMID:22871920|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27872819|PMID:27882258|PMID:28492532|PMID:28559085|PMID:29377746|PMID:29588463|PMID:29907799|PMID:30362618|PMID:30577886|PMID:31150129|PMID:31216405|PMID:31319225|PMID:31374812|PMID:31589614|PMID:31664448|PMID:31884617|PMID:31964843|PMID:31980526|PMID:32866347|PMID:33749171|PMID:34426522|PMID:34758253|PMID:35586607|PMID:36631813|PMID:9398847|PMID:9398848
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:12849	autistic disorder		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:10384394|PMID:10447258|PMID:11389485|PMID:12402331|PMID:15098231|PMID:16141001|PMID:17055079|PMID:19105186|PMID:20301621|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27872819|PMID:27882258|PMID:28492532|PMID:28559085|PMID:29377746|PMID:29588463|PMID:29907799|PMID:30362618|PMID:30577886|PMID:31150129|PMID:31216405|PMID:31319225|PMID:31374812|PMID:31589614|PMID:31664448|PMID:31884617|PMID:31964843|PMID:31980526|PMID:32866347|PMID:33749171|PMID:34426522|PMID:34758253|PMID:35586607|PMID:36631813|PMID:9398847|PMID:9398848
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:3070	high grade glioma		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:3275	thymoma		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346322	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:5723	optic atrophy		ISO	RGD:1346322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:630	genetic disease		ISO	RGD:1346322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19105186|PMID:21031596|PMID:2324705|PMID:23247051|PMID:25741868|PMID:26387595|PMID:28397838|PMID:28492532|PMID:31831025|PMID:32203225|PMID:33708531
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIVER CELL CARCINOMA	PMID:25741868|PMID:28492532
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1346322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:26387595|PMID:28492532
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:9006420	Zellweger Leukodystrophy		ISO	RGD:1346322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Zellweger leukodystrophy	PMID:10447258|PMID:16086329|PMID:16141001|PMID:16199547|PMID:19105186|PMID:21031596|PMID:21846392|PMID:2324705|PMID:23247051|PMID:25133751|PMID:25741868|PMID:26387595|PMID:26467025|PMID:28492532|PMID:28600779|PMID:31831025|PMID:32203225|PMID:33708531|PMID:34744965|PMID:9398847
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:905	Zellweger syndrome		ISO	RGD:1346322	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome	PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:28857144|PMID:29261186|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31319225|PMID:31374812|PMID:31628608|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32483926|PMID:32596134|PMID:32866347|PMID:33083013|PMID:33240318|PMID:33708531|PMID:33726816|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:905	Zellweger syndrome		ISO	RGD:1346322	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome	PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:25741916|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:28600779|PMID:28857144|PMID:29261186|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31319225|PMID:31374812|PMID:31628608|PMID:31742715|PMID:31831025|PMID:31964843|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32483926|PMID:32596134|PMID:32866347|PMID:32959227|PMID:33083013|PMID:33240318|PMID:33708531|PMID:33726816|PMID:33955040|PMID:33955814|PMID:34448047|PMID:34513757|PMID:34744965|PMID:34974531|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:905	Zellweger syndrome		ISO	RGD:1346322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome	PMID:10447258|PMID:11389485|PMID:11439091|PMID:12032265|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:21031596|PMID:21846392|PMID:2324705|PMID:23247051|PMID:24033266|PMID:25133751|PMID:25525159|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26467025|PMID:27231023|PMID:27469511|PMID:27882258|PMID:28432012|PMID:28468868|PMID:28492532|PMID:28857144|PMID:30561787|PMID:31319225|PMID:31742715|PMID:31831025|PMID:3196484|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32483926|PMID:32959227|PMID:33240318|PMID:33708531|PMID:33726816|PMID:34448047|PMID:34671977|PMID:34744965|PMID:36307859|PMID:36511274|PMID:37204857|PMID:37871882|PMID:40112482|PMID:9398847|PMID:9536098
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:906	peroxisomal disease		ISO	RGD:1346322	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Peroxisomal disorder	PMID:10384394|PMID:10447258|PMID:11389485|PMID:12402331|PMID:15098231|PMID:16141001|PMID:19105186|PMID:21031596|PMID:21846392|PMID:22871920|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27872819|PMID:27882258|PMID:28492532|PMID:28559085|PMID:29377746|PMID:29588463|PMID:29907799|PMID:30362618|PMID:30577886|PMID:31150129|PMID:31216405|PMID:31319225|PMID:31374812|PMID:31589614|PMID:31664448|PMID:31884617|PMID:31964843|PMID:31980526|PMID:32866347|PMID:33749171|PMID:34426522|PMID:34758253|PMID:35586607|PMID:36631813|PMID:9398847|PMID:9398848
8720878	Pex1	peroxisomal biogenesis factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8720912	Tnc	tenascin C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8720912	Tnc	tenascin C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8720912	Tnc	tenascin C	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:621057	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:15565633|REF_RGD_ID:4889614
8720912	Tnc	tenascin C	gene	DOID:0110581	autosomal dominant nonsyndromic deafness 56		ISO	RGD:1354144	D	RGD:7240710	20180130	OMIM			
8720912	Tnc	tenascin C	gene	DOID:0110581	autosomal dominant nonsyndromic deafness 56		ISO	RGD:1354144	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 56 | ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29531218|PMID:31190668|PMID:36597107
8720912	Tnc	tenascin C	gene	DOID:10320	asbestosis		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		protein:increased expression:pleura	PMID:10950882|REF_RGD_ID:4889594
8720912	Tnc	tenascin C	gene	DOID:10534	stomach cancer		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8720912	Tnc	tenascin C	gene	DOID:106	pleural tuberculosis		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		protein:increased expression:pleura	PMID:10950882|REF_RGD_ID:4889594
8720912	Tnc	tenascin C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8720912	Tnc	tenascin C	gene	DOID:1115	sarcoma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8720912	Tnc	tenascin C	gene	DOID:11204	allergic conjunctivitis		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		DNA:SNPs, missense mutations, haplotypes:cds, intron:multiple	PMID:18305139|REF_RGD_ID:4889589
8720912	Tnc	tenascin C	gene	DOID:11830	myopia		ISO	RGD:1354144	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
8720912	Tnc	tenascin C	gene	DOID:13100	intracranial vasospasm		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		associated with Subarachnoid Hemorrhage;protein:increased expression:serum	PMID:19589197|REF_RGD_ID:4889600
8720912	Tnc	tenascin C	gene	DOID:1324	lung cancer		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8720912	Tnc	tenascin C	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:9780295|REF_RGD_ID:4889595
8720912	Tnc	tenascin C	gene	DOID:1532	pleural disease		ISO	RGD:1354144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10950882
8720912	Tnc	tenascin C	gene	DOID:1612	breast cancer		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
8720912	Tnc	tenascin C	gene	DOID:1909	melanoma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8720912	Tnc	tenascin C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8720912	Tnc	tenascin C	gene	DOID:2841	asthma		ISO	RGD:1354144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16115819
8720912	Tnc	tenascin C	gene	DOID:2841	asthma		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:p.L1677I (human)	PMID:16115819|REF_RGD_ID:4889569
8720912	Tnc	tenascin C	gene	DOID:2841	asthma		ISO	RGD:1354144	D	RGD:9068941	20260312	RGD		protein:increased expression:bronchus basement membrane	PMID:18305139|PMID:9310019|REF_RGD_ID:4889572|REF_RGD_ID:4889589
8720912	Tnc	tenascin C	gene	DOID:2841	asthma		ISO	RGD:1615156	D	RGD:9068941	20200609	RGD			PMID:17125141|REF_RGD_ID:4889565
8720912	Tnc	tenascin C	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1347629	D	RGD:9068941	20260326	RGD		DNA:SNPs: :multiple	PMID:18305139|REF_RGD_ID:4889589
8720912	Tnc	tenascin C	gene	DOID:289	endometriosis		ISO	RGD:1354144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
8720912	Tnc	tenascin C	gene	DOID:3068	glioblastoma		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD			PMID:16928692|REF_RGD_ID:4889612
8720912	Tnc	tenascin C	gene	DOID:3070	high grade glioma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8720912	Tnc	tenascin C	gene	DOID:3275	thymoma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8720912	Tnc	tenascin C	gene	DOID:3798	pleural empyema		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		protein:increased expression:pleura	PMID:10950882|REF_RGD_ID:4889594
8720912	Tnc	tenascin C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8720912	Tnc	tenascin C	gene	DOID:4362	cervical cancer		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8720912	Tnc	tenascin C	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8720912	Tnc	tenascin C	gene	DOID:4947	cholangiocarcinoma	severity	ISO	RGD:621057	D	RGD:9068941	20200609	RGD			PMID:20816680|REF_RGD_ID:4889598
8720912	Tnc	tenascin C	gene	DOID:5041	esophageal cancer		ISO	RGD:1354144	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8720912	Tnc	tenascin C	gene	DOID:552	pneumonia		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, respiratory system fluid/secretion	PMID:19721293|REF_RGD_ID:4889573
8720912	Tnc	tenascin C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720912	Tnc	tenascin C	gene	DOID:5844	myocardial infarction		ISO	RGD:621057	D	RGD:9068941	20200609	RGD		protein:increased expression:heart, fibroblast	PMID:11454990|REF_RGD_ID:4889618
8720912	Tnc	tenascin C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8720912	Tnc	tenascin C	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD			PMID:16782755|REF_RGD_ID:4889567
8720912	Tnc	tenascin C	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:20528622|REF_RGD_ID:4889562
8720912	Tnc	tenascin C	gene	DOID:6432	pulmonary hypertension		ISO	RGD:621057	D	RGD:9068941	20200609	RGD			PMID:15879421|REF_RGD_ID:4889570
8720912	Tnc	tenascin C	gene	DOID:6432	pulmonary hypertension	severity	ISO	RGD:621057	D	RGD:9068941	20200609	RGD			PMID:19288153|REF_RGD_ID:4889564
8720912	Tnc	tenascin C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8720912	Tnc	tenascin C	gene	DOID:799	varicose veins		ISO	RGD:1354144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17643059
8720912	Tnc	tenascin C	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:9780295|REF_RGD_ID:4889595
8720912	Tnc	tenascin C	gene	DOID:850	lung disease		ISO	RGD:10271	D	RGD:9068941	20200609	RGD		Acute Lung Injury	PMID:16690978|REF_RGD_ID:4889568
8720912	Tnc	tenascin C	gene	DOID:850	lung disease		ISO	RGD:1615156	D	RGD:9068941	20200609	RGD		Acute Lung Injury	PMID:20833777|REF_RGD_ID:4889561
8720912	Tnc	tenascin C	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:621057	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:11085900|REF_RGD_ID:4889619
8720912	Tnc	tenascin C	gene	DOID:9000252	Allergic Rhinoconjunctivitis		ISO	RGD:1354144	D	RGD:9068941	20260305	RGD		DNA:SNPs, missense mutations, haplotypes:cds, intron:multiple	PMID:18305139|REF_RGD_ID:4889589
8720912	Tnc	tenascin C	gene	DOID:9000252	Allergic Rhinoconjunctivitis	susceptibility	ISO	RGD:1347629	D	RGD:9068941	20260326	RGD		DNA:SNP: :rs12347433	PMID:18305139|REF_RGD_ID:4889589
8720912	Tnc	tenascin C	gene	DOID:9000310	Lung Injury		ISO	RGD:1354144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18978301
8720912	Tnc	tenascin C	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:621057	D	RGD:9068941	20200609	RGD		protein:increased expression:basilar artery	PMID:19589197|REF_RGD_ID:4889600
8720912	Tnc	tenascin C	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Renal Cell;protein:increased expression:lung	PMID:16928692|REF_RGD_ID:4889612
8720912	Tnc	tenascin C	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal cavity epithelium	PMID:12916355|REF_RGD_ID:4889591
8720912	Tnc	tenascin C	gene	DOID:9003566	Mesothelioma		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD			PMID:16928692|REF_RGD_ID:4889612
8720912	Tnc	tenascin C	gene	DOID:9003566	Mesothelioma	disease_progression	ISO	RGD:1354144	D	RGD:9068941	20200609	RGD			PMID:12605648|REF_RGD_ID:4889571
8720912	Tnc	tenascin C	gene	DOID:9004538	Hearing Loss		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss	PMID:23936043|PMID:25741868|PMID:30311386
8720912	Tnc	tenascin C	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:25741868
8720912	Tnc	tenascin C	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:621057	D	RGD:9068941	20200609	RGD			PMID:17999372|REF_RGD_ID:4889609
8720912	Tnc	tenascin C	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:1354144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374069
8720912	Tnc	tenascin C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8720912	Tnc	tenascin C	gene	DOID:9007480	Hyperoxia		ISO	RGD:1615156	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:17001473|REF_RGD_ID:4889566
8720912	Tnc	tenascin C	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:621057	D	RGD:9068941	20200609	RGD			PMID:20554738|REF_RGD_ID:4889599
8720912	Tnc	tenascin C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8720912	Tnc	tenascin C	gene	DOID:9415	allergic asthma		ISO	RGD:1354144	D	RGD:9068941	20260326	RGD		DNA:SNP, haplotype:intron:rs2297181	PMID:18305139|REF_RGD_ID:4889589
8720912	Tnc	tenascin C	gene	DOID:9415	allergic asthma	susceptibility	ISO	RGD:1347629	D	RGD:9068941	20260326	RGD		DNA:SNP:missense mutation:rs2104772	PMID:18305139|REF_RGD_ID:4889589
8720912	Tnc	tenascin C	gene	DOID:9849	Meniere's disease		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meniere disease | ClinVar Annotator: match by term: Ménière's disease	
8720946	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318617	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8720946	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8720946	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:1324	lung cancer		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8720946	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8720946	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:3070	high grade glioma		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8720946	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:3275	thymoma		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8720946	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8720946	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8720946	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8720946	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8720946	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1318617	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8720946	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720946	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8720946	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8720946	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8720946	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8720991	Igf2bp2	insulin like growth factor 2 mRNA binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8720991	Igf2bp2	insulin like growth factor 2 mRNA binding protein 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1606569	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8720991	Igf2bp2	insulin like growth factor 2 mRNA binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8720991	Igf2bp2	insulin like growth factor 2 mRNA binding protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8720991	Igf2bp2	insulin like growth factor 2 mRNA binding protein 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1606569	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35226250
8720991	Igf2bp2	insulin like growth factor 2 mRNA binding protein 2	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1606569	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35226250
8720991	Igf2bp2	insulin like growth factor 2 mRNA binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8720991	Igf2bp2	insulin like growth factor 2 mRNA binding protein 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1606569	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TYPE 2 DIABETES MELLITUS, SUSCEPTIBILITY TO	
8720991	Igf2bp2	insulin like growth factor 2 mRNA binding protein 2	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1606569	D	RGD:7240710	20230505	OMIM			
8721023	LOC102009464	chromosome unknown open reading frame, human C5orf15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721051	Tnpo1	transportin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8721051	Tnpo1	transportin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8721051	Tnpo1	transportin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8721051	Tnpo1	transportin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8721051	Tnpo1	transportin 1	gene	DOID:1115	sarcoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8721051	Tnpo1	transportin 1	gene	DOID:1909	melanoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8721051	Tnpo1	transportin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8721051	Tnpo1	transportin 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8721051	Tnpo1	transportin 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8721051	Tnpo1	transportin 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8721051	Tnpo1	transportin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8721051	Tnpo1	transportin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8721051	Tnpo1	transportin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318103	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8721051	Tnpo1	transportin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721051	Tnpo1	transportin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8721051	Tnpo1	transportin 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8721051	Tnpo1	transportin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8721051	Tnpo1	transportin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8721051	Tnpo1	transportin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8721098	Pla2g4c	phospholipase A2 group IVC	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8721098	Pla2g4c	phospholipase A2 group IVC	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8721098	Pla2g4c	phospholipase A2 group IVC	gene	DOID:10534	stomach cancer		ISO	RGD:1348684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8721098	Pla2g4c	phospholipase A2 group IVC	gene	DOID:1324	lung cancer		ISO	RGD:1348684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8721098	Pla2g4c	phospholipase A2 group IVC	gene	DOID:4362	cervical cancer		ISO	RGD:1348684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8721098	Pla2g4c	phospholipase A2 group IVC	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8721098	Pla2g4c	phospholipase A2 group IVC	gene	DOID:5041	esophageal cancer		ISO	RGD:1348684	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8721098	Pla2g4c	phospholipase A2 group IVC	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721098	Pla2g4c	phospholipase A2 group IVC	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8721098	Pla2g4c	phospholipase A2 group IVC	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8721124	Dnm2	dynamin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:730970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8721124	Dnm2	dynamin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8721124	Dnm2	dynamin 2	gene	DOID:0060260	ptosis		ISO	RGD:730970	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:16227997|PMID:17008356|PMID:17825552|PMID:18414213|PMID:19130742|PMID:20227276|PMID:20529869|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24465259|PMID:25262827|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:28492532
8721124	Dnm2	dynamin 2	gene	DOID:0061261	lethal congenital contracture syndrome 5		ISO	RGD:730970	D	RGD:7240710	20180130	OMIM			
8721124	Dnm2	dynamin 2	gene	DOID:0061261	lethal congenital contracture syndrome 5		ISO	RGD:730970	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lethal congenital contracture syndrome 5	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
8721124	Dnm2	dynamin 2	gene	DOID:0080089	tubular aggregate myopathy 1		ISO	RGD:730970	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT	PMID:18414213|PMID:22396310|PMID:23394783|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:36324371
8721124	Dnm2	dynamin 2	gene	DOID:0080307	myofibrillar myopathy		ISO	RGD:730970	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myofibrillar myopathy	PMID:25741868|PMID:28492532
8721124	Dnm2	dynamin 2	gene	DOID:0110197	Charcot-Marie-Tooth disease dominant intermediate B		ISO	RGD:730970	D	RGD:7240710	20180130	OMIM			
8721124	Dnm2	dynamin 2	gene	DOID:0110197	Charcot-Marie-Tooth disease dominant intermediate B		ISO	RGD:730970	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B	PMID:15731758|PMID:16199547|PMID:16227997|PMID:17008356|PMID:17576681|PMID:17636067|PMID:17825552|PMID:17932957|PMID:18394888|PMID:18414213|PMID:18560793|PMID:19122038|PMID:19130742|PMID:19502294|PMID:19623537|PMID:19932619|PMID:19932620|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21514436|PMID:21762456|PMID:22091729|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22451505|PMID:22613877|PMID:23092955|PMID:23338057|PMID:23374900|PMID:23394783|PMID:23806086|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24135484|PMID:24215330|PMID:24366529|PMID:24465259|PMID:24728327|PMID:25025039|PMID:25214167|PMID:25259927|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25640679|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26275793|PMID:26392352|PMID:26467025|PMID:26503427|PMID:26633545|PMID:26842864|PMID:26908122|PMID:27328317|PMID:2734399|PMID:27343996|PMID:27549087|PMID:27572814|PMID:27698851|PMID:27854218|PMID:28357347|PMID:28357410|PMID:28492532|PMID:28532469|PMID:28676641|PMID:28708278|PMID:28971531|PMID:29653220|PMID:30103202|PMID:30146126|PMID:30208955|PMID:30373780|PMID:31017801|PMID:31407473|PMID:32315611|PMID:32528171|PMID:32657593|PMID:32860008|PMID:33333461|PMID:33369814|PMID:33459893|PMID:34008892|PMID:34354735|PMID:34463354|PMID:34595679|PMID:34768808|PMID:34837441|PMID:35993408|PMID:36142275|PMID:36324371|PMID:36964972|PMID:37273706|PMID:39825153|PMID:9536098
8721124	Dnm2	dynamin 2	gene	DOID:0110197	Charcot-Marie-Tooth disease dominant intermediate B		ISO	RGD:730970	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate B	PMID:15731758|PMID:16199547|PMID:16227997|PMID:17008356|PMID:17576681|PMID:17636067|PMID:17825552|PMID:17932957|PMID:18414213|PMID:18560793|PMID:19122038|PMID:19130742|PMID:19502294|PMID:19932619|PMID:20227276|PMID:20529869|PMID:20817456|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22091729|PMID:22096584|PMID:22396310|PMID:22451505|PMID:22613877|PMID:23092955|PMID:23338057|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24366529|PMID:24465259|PMID:25025039|PMID:25214167|PMID:25259927|PMID:25262827|PMID:25492887|PMID:25501959|PMID:25640679|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26275793|PMID:26467025|PMID:26908122|PMID:27328317|PMID:27549087|PMID:28357347|PMID:28492532|PMID:28676641|PMID:28708278|PMID:29653220|PMID:30208955|PMID:30373780|PMID:31407473|PMID:32528171|PMID:32657593|PMID:33333461|PMID:33369814|PMID:34008892|PMID:34595679|PMID:34768808|PMID:34837441|PMID:35993408|PMID:36324371|PMID:36964972|PMID:37273706|PMID:9536098
8721124	Dnm2	dynamin 2	gene	DOID:0111217	autosomal dominant centronuclear myopathy		ISO	RGD:730970	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: autosomal dominant centronuclear myopathy	PMID:16199547|PMID:16227997|PMID:17008356|PMID:17825552|PMID:17932957|PMID:18414213|PMID:19130742|PMID:19623537|PMID:20227276|PMID:20529869|PMID:20817456|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23374900|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24366529|PMID:24465259|PMID:25262827|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26503427|PMID:26908122|PMID:28492532|PMID:28676641|PMID:36324371
8721124	Dnm2	dynamin 2	gene	DOID:0111223	centronuclear myopathy 1		ISO	RGD:730970	D	RGD:7240710	20180130	OMIM			
8721124	Dnm2	dynamin 2	gene	DOID:0111223	centronuclear myopathy 1		ISO	RGD:730970	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopathy, centronuclear, 3	PMID:18414213|PMID:22396310|PMID:23394783|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:36324371
8721124	Dnm2	dynamin 2	gene	DOID:10534	stomach cancer		ISO	RGD:730970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8721124	Dnm2	dynamin 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:730970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:16227997|PMID:18394888|PMID:18414213|PMID:20529869|PMID:20817456|PMID:22091729|PMID:22613877|PMID:24016602|PMID:25025039|PMID:25492887|PMID:25501959|PMID:25741868|PMID:28492532|PMID:28676641
8721124	Dnm2	dynamin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8721124	Dnm2	dynamin 2	gene	DOID:1115	sarcoma		ISO	RGD:730970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8721124	Dnm2	dynamin 2	gene	DOID:11252	microcytic anemia		ISO	RGD:730971	D	RGD:9068941	20221117	MouseDO		OMIM:206200	
8721124	Dnm2	dynamin 2	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:730970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:16227997|PMID:18414213|PMID:20529869|PMID:20817456|PMID:22613877|PMID:24016602|PMID:25492887|PMID:25501959|PMID:25741868|PMID:28492532|PMID:28676641
8721124	Dnm2	dynamin 2	gene	DOID:1324	lung cancer		ISO	RGD:730970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8721124	Dnm2	dynamin 2	gene	DOID:14717	centronuclear myopathy		ISO	RGD:730970	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Centronuclear myopathy | ClinVar Annotator: match by term: Myopathy, centronuclear | ClinVar Annotator: match by term: Myotubular myopathy	PMID:16227997|PMID:17008356|PMID:17825552|PMID:18414213|PMID:19122038|PMID:19130742|PMID:19932620|PMID:20227276|PMID:20529869|PMID:20817456|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24016602|PMID:24366529|PMID:24465259|PMID:25262827|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26908122|PMID:28492532|PMID:28676641|PMID:36324371
8721124	Dnm2	dynamin 2	gene	DOID:1909	melanoma		ISO	RGD:730970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8721124	Dnm2	dynamin 2	gene	DOID:2975	cystic kidney disease		ISO	RGD:730971	D	RGD:9068941	20220825	MouseDO			
8721124	Dnm2	dynamin 2	gene	DOID:422	congenital structural myopathy		ISO	RGD:730970	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy	PMID:16227997|PMID:17008356|PMID:17932957|PMID:18414213|PMID:19130742|PMID:20227276|PMID:20529869|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:27698851|PMID:27854218|PMID:28492532|PMID:28676641|PMID:30103202|PMID:32860008|PMID:34008892
8721124	Dnm2	dynamin 2	gene	DOID:422	congenital structural myopathy		ISO	RGD:730970	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Myotubular myopathy	PMID:16199547|PMID:16227997|PMID:17008356|PMID:17825552|PMID:17932957|PMID:18414213|PMID:19130742|PMID:19623537|PMID:19932619|PMID:19932620|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21514436|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23374900|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24135484|PMID:24366529|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26503427|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:27572814|PMID:27698851|PMID:27854218|PMID:28357410|PMID:28492532|PMID:28676641|PMID:30103202|PMID:31017801|PMID:32315611|PMID:32860008|PMID:34008892|PMID:34354735|PMID:34463354|PMID:34595679|PMID:34837441|PMID:36142275|PMID:36324371|PMID:39825153
8721124	Dnm2	dynamin 2	gene	DOID:423	myopathy		ISO	RGD:730970	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:16227997|PMID:17008356|PMID:17825552|PMID:18414213|PMID:19130742|PMID:20227276|PMID:20529869|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24465259|PMID:25262827|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:28492532
8721124	Dnm2	dynamin 2	gene	DOID:4362	cervical cancer		ISO	RGD:730970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8721124	Dnm2	dynamin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:730970	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8721124	Dnm2	dynamin 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:730970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8721124	Dnm2	dynamin 2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:730970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8721124	Dnm2	dynamin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721124	Dnm2	dynamin 2	gene	DOID:630	genetic disease		ISO	RGD:730970	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17636067|PMID:18414213|PMID:22730194|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26517984|PMID:28492532|PMID:28708278|PMID:30373780|PMID:32657593|PMID:33333461|PMID:33369814|PMID:35993408|PMID:36964972|PMID:37273706
8721124	Dnm2	dynamin 2	gene	DOID:767	muscular atrophy		ISO	RGD:730970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:16227997|PMID:18414213|PMID:20529869|PMID:20817456|PMID:22613877|PMID:24016602|PMID:25492887|PMID:25501959|PMID:25741868|PMID:28492532|PMID:28676641
8721124	Dnm2	dynamin 2	gene	DOID:870	neuropathy		ISO	RGD:730970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	
8721124	Dnm2	dynamin 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:730970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8721124	Dnm2	dynamin 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:730970	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Progressive muscle weakness	PMID:16227997|PMID:18414213|PMID:20529869|PMID:20817456|PMID:22613877|PMID:24016602|PMID:25492887|PMID:25501959|PMID:25741868|PMID:28492532|PMID:28676641
8721124	Dnm2	dynamin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8721124	Dnm2	dynamin 2	gene	DOID:9007114	Mobility Limitation		ISO	RGD:730970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:16227997|PMID:18414213|PMID:19130742|PMID:20529869|PMID:20817456|PMID:22613877|PMID:24016602|PMID:24366529|PMID:25492887|PMID:25501959|PMID:25741868|PMID:26908122|PMID:28492532|PMID:28676641
8721124	Dnm2	dynamin 2	gene	DOID:9007573	Flatfoot		ISO	RGD:730970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:16227997|PMID:18414213|PMID:19130742|PMID:20529869|PMID:20817456|PMID:22613877|PMID:24016602|PMID:24366529|PMID:25492887|PMID:25501959|PMID:25741868|PMID:26908122|PMID:28492532|PMID:28676641
8721124	Dnm2	dynamin 2	gene	DOID:9008014	Charcot-Marie-Tooth Disease, Dominant Intermediate 1		ISO	RGD:730970	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate 1	PMID:16227997|PMID:17008356|PMID:17636067|PMID:17825552|PMID:17932957|PMID:18414213|PMID:18560793|PMID:19122038|PMID:19130742|PMID:19502294|PMID:20227276|PMID:20529869|PMID:20817456|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22091729|PMID:22096584|PMID:22396310|PMID:22451505|PMID:22613877|PMID:23092955|PMID:23338057|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24366529|PMID:24465259|PMID:25259927|PMID:25262827|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26908122|PMID:28357347|PMID:28492532|PMID:28676641|PMID:28708278|PMID:29653220|PMID:30208955|PMID:30373780|PMID:33369814|PMID:35993408|PMID:36324371|PMID:36964972|PMID:37273706
8721124	Dnm2	dynamin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:28492532
8721124	Dnm2	dynamin 2	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:730970	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	PMID:17636067|PMID:25741868|PMID:28492532|PMID:30373780|PMID:35993408
8721176	Mansc1	MANSC domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8721176	Mansc1	MANSC domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721176	Mansc1	MANSC domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8721183	Phldb3	pleckstrin homology like domain family B member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345533	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8721183	Phldb3	pleckstrin homology like domain family B member 3	gene	DOID:1324	lung cancer		ISO	RGD:1345533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8721183	Phldb3	pleckstrin homology like domain family B member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1345533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8721183	Phldb3	pleckstrin homology like domain family B member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8721183	Phldb3	pleckstrin homology like domain family B member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8721183	Phldb3	pleckstrin homology like domain family B member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1345533	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8721183	Phldb3	pleckstrin homology like domain family B member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721183	Phldb3	pleckstrin homology like domain family B member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8721183	Phldb3	pleckstrin homology like domain family B member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8721203	Itgb7	integrin subunit beta 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8721203	Itgb7	integrin subunit beta 7	gene	DOID:1909	melanoma		ISO	RGD:1343409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8721203	Itgb7	integrin subunit beta 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8721203	Itgb7	integrin subunit beta 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1343409	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8721203	Itgb7	integrin subunit beta 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721203	Itgb7	integrin subunit beta 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8721203	Itgb7	integrin subunit beta 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8721223	Smagp	small cell adhesion glycoprotein	gene	DOID:10534	stomach cancer		ISO	RGD:1607014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8721223	Smagp	small cell adhesion glycoprotein	gene	DOID:1909	melanoma		ISO	RGD:1607014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8721223	Smagp	small cell adhesion glycoprotein	gene	DOID:4362	cervical cancer		ISO	RGD:1607014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8721223	Smagp	small cell adhesion glycoprotein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8721235	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8721235	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8721235	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:10534	stomach cancer		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8721235	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8721235	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:1115	sarcoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8721235	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:1324	lung cancer		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8721235	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:3070	high grade glioma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8721235	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:3275	thymoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8721235	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1606819	D	RGD:9068941	20200609	RGD		mRNA:increased expression:peripheral blood lymphocyte (human)	PMID:23006766|REF_RGD_ID:11041891
8721235	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:4362	cervical cancer		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8721235	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8721235	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:5041	esophageal cancer		ISO	RGD:1606819	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8721235	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721235	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8721235	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8721235	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8721235	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8721235	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1606819	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
8721235	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8721235	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8721235	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8721235	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:9256	colorectal cancer		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:0080599	Coronavirus infectious disease		ISO	RGD:737491	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30626688
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:0080642	Middle East respiratory syndrome		ISO	RGD:10481	D	RGD:9068941	20220825	MouseDO			
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:0080642	Middle East respiratory syndrome		ISO	RGD:737491	D	RGD:9068941	20200618	RGD			PMID:30626685|REF_RGD_ID:30309198
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:0080642	Middle East respiratory syndrome	severity	ISO	RGD:737491	D	RGD:9068941	20200618	RGD			PMID:31838832|REF_RGD_ID:30309204
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:0080642	Middle East respiratory syndrome	treatment	ISO	RGD:737491	D	RGD:9068941	20200626	RGD		human gene in mouse model	PMID:30256968|REF_RGD_ID:30309959
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:1115	sarcoma		ISO	RGD:737491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:12849	autistic disorder		ISO	RGD:13610798	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autism	PMID:18414213
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:1324	lung cancer		ISO	RGD:737491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:1909	melanoma		ISO	RGD:737491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:3275	thymoma		ISO	RGD:737491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:737491	D	RGD:9068941	20220526	RGD		protein:increased expression: esophagus	PMID:24789592|REF_RGD_ID:152600903
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:737491	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:576	proteinuria		ISO	RGD:737491	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2880436
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:10481	D	RGD:9068941	20200609	RGD			PMID:19765579|REF_RGD_ID:2313699
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737491	D	RGD:9068941	20200609	RGD			PMID:19705345|REF_RGD_ID:2313700
8721273	Dpp4	dipeptidyl peptidase 4	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:10481	D	RGD:9068941	20200609	RGD			PMID:19073764|REF_RGD_ID:2313702
8721316	Hmgn1	high mobility group nucleosome binding domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8721316	Hmgn1	high mobility group nucleosome binding domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8721316	Hmgn1	high mobility group nucleosome binding domain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8721316	Hmgn1	high mobility group nucleosome binding domain 1	gene	DOID:1324	lung cancer		ISO	RGD:1317138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8721316	Hmgn1	high mobility group nucleosome binding domain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8721316	Hmgn1	high mobility group nucleosome binding domain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317138	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8721316	Hmgn1	high mobility group nucleosome binding domain 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8721316	Hmgn1	high mobility group nucleosome binding domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721316	Hmgn1	high mobility group nucleosome binding domain 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1317138	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24747640
8721324	Upk2	uroplakin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8721324	Upk2	uroplakin 2	gene	DOID:9000363	Hematuria		ISO	RGD:1353269	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:26424769
8721324	Upk2	uroplakin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8721335	Actl8	actin like 8	gene	DOID:10534	stomach cancer		ISO	RGD:1602092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8721335	Actl8	actin like 8	gene	DOID:1909	melanoma		ISO	RGD:1602092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8721335	Actl8	actin like 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1351390	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF	PMID:25741868|PMID:28492532
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:0112069	nuclear type mitochondrial complex I deficiency 22		ISO	RGD:1351390	D	RGD:7240710	20190315	OMIM			
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:0112069	nuclear type mitochondrial complex I deficiency 22		ISO	RGD:1351390	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 22 | ClinVar Annotator: match by term: NDUFA10-related condition	PMID:21150889|PMID:22972949|PMID:25741868|PMID:28247337|PMID:28492532|PMID:33233646|PMID:34827632|PMID:34828274|PMID:38703036
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1351390	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:25741868|PMID:28492532
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:1115	sarcoma		ISO	RGD:1351390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:1143	exotropia		ISO	RGD:1351390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:38703036
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:1826	epilepsy		ISO	RGD:1351390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:38703036
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:1969	cerebral palsy		ISO	RGD:1351390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:38703036
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:3275	thymoma		ISO	RGD:1351390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:3652	Leigh disease		ISO	RGD:1351390	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy	PMID:25741868|PMID:28492532
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:4362	cervical cancer		ISO	RGD:1351390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:5041	esophageal cancer		ISO	RGD:1351390	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:5419	schizophrenia		ISO	RGD:1351390	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:5723	optic atrophy		ISO	RGD:1351390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:38703036
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:630	genetic disease		ISO	RGD:1351390	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:30094188|PMID:38703036
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1351390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:38703036
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:38703036
8721345	Ndufa10	NADH:ubiquinone oxidoreductase subunit A10	gene	DOID:9834	hyperopia		ISO	RGD:1351390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:38703036
8721359	Pcm1	pericentriolar material 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8721359	Pcm1	pericentriolar material 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8721359	Pcm1	pericentriolar material 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8721359	Pcm1	pericentriolar material 1	gene	DOID:1115	sarcoma		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8721359	Pcm1	pericentriolar material 1	gene	DOID:1324	lung cancer		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8721359	Pcm1	pericentriolar material 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8721359	Pcm1	pericentriolar material 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: congenital heart disease	PMID:25741868
8721359	Pcm1	pericentriolar material 1	gene	DOID:1909	melanoma		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8721359	Pcm1	pericentriolar material 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8721359	Pcm1	pericentriolar material 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8721359	Pcm1	pericentriolar material 1	gene	DOID:3275	thymoma		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8721359	Pcm1	pericentriolar material 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8721359	Pcm1	pericentriolar material 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8721359	Pcm1	pericentriolar material 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349730	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8721359	Pcm1	pericentriolar material 1	gene	DOID:5419	schizophrenia		ISO	RGD:1349730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19048012
8721359	Pcm1	pericentriolar material 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721359	Pcm1	pericentriolar material 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8721359	Pcm1	pericentriolar material 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8721359	Pcm1	pericentriolar material 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8721359	Pcm1	pericentriolar material 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349730	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:10980597|PMID:25741868
8721359	Pcm1	pericentriolar material 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8721359	Pcm1	pericentriolar material 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8721420	Sec14l3	SEC14 like lipid binding 3	gene	DOID:1324	lung cancer		ISO	RGD:1346355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8721420	Sec14l3	SEC14 like lipid binding 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8721481	Stac2	SH3 and cysteine rich domain 2	gene	DOID:1115	sarcoma		ISO	RGD:1313639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8721481	Stac2	SH3 and cysteine rich domain 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8721481	Stac2	SH3 and cysteine rich domain 2	gene	DOID:9002189	High Myopia		ISO	RGD:1313639	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
8721481	Stac2	SH3 and cysteine rich domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8721481	Stac2	SH3 and cysteine rich domain 2	gene	DOID:9007491	Childhood Schizophrenia		ISO	RGD:1313639	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Childhood Onset Schizophrenia	PMID:26508570
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:0060058	lymphoma		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:0070420	developmental delay, hypotonia, and impaired language		ISO	RGD:1347453	D	RGD:7240710	20221109	OMIM			
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:0070420	developmental delay, hypotonia, and impaired language		ISO	RGD:1347453	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE | ClinVar Annotator: match by term: Developmental delay, hypotonia, and impaired language | ClinVar Annotator: match by term: FBXW7-related condition	PMID:24332040|PMID:24436047|PMID:25741868|PMID:25768946|PMID:27147599|PMID:27993330|PMID:28492532|PMID:30510140|PMID:32113998|PMID:33057194|PMID:34166060|PMID:35395208
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1347453	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:17646408|PMID:17646409|PMID:24436047|PMID:24838835|PMID:25450649|PMID:25741868|PMID:25768946|PMID:27993330|PMID:28726821|PMID:28966033|PMID:30510140|PMID:30722038|PMID:33502920|PMID:33741928|PMID:34166060|PMID:35101336|PMID:38483988
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:0080706	medulloblastoma non-WNT/non-SHH		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH	PMID:17575125|PMID:17646409|PMID:17909001|PMID:22608923|PMID:23228967|PMID:24436047|PMID:25768946|PMID:27993330|PMID:28726821|PMID:28963353|PMID:28966033|PMID:33502920|PMID:33741928|PMID:34166060|PMID:35101336
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:0080707	medulloblastoma non-WNT/non-SHH group 3		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 3	PMID:24436047|PMID:24838835|PMID:25741868|PMID:25768946|PMID:27993330|PMID:28726821|PMID:28966033|PMID:30510140|PMID:33502920|PMID:33741928|PMID:34166060|PMID:38483988
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:24436047|PMID:24838835|PMID:25741868|PMID:25768946|PMID:27993330|PMID:28481359|PMID:28726821|PMID:28966033|PMID:30510140|PMID:31748746|PMID:33502920|PMID:33741928|PMID:34166060|PMID:38483988
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:10534	stomach cancer		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:1115	sarcoma		ISO	RGD:1347453	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:1324	lung cancer		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:27247421|PMID:27993330|PMID:28424412|PMID:28966033|PMID:32907612|PMID:35101336|PMID:35346215|PMID:36702998
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1347453	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26950094
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:3070	high grade glioma		ISO	RGD:1347453	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18931460
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma	PMID:17646408|PMID:17646409|PMID:22608923|PMID:24436047|PMID:24838835|PMID:24912918|PMID:25741868|PMID:25768946|PMID:27993330|PMID:28481359|PMID:28726821|PMID:28966033|PMID:30510140|PMID:30722038|PMID:31748746|PMID:33502920|PMID:33741928|PMID:34166060|PMID:38483988
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma	PMID:24436047|PMID:25768946|PMID:27993330|PMID:34166060
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1347453	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151357
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347453	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:25741868|PMID:26619011
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:28492532|PMID:35395208
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:4051	alveolar rhabdomyosarcoma		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma	PMID:24436047|PMID:24838835|PMID:25741868|PMID:25768946|PMID:27993330|PMID:28726821|PMID:28966033|PMID:30510140|PMID:33502920|PMID:33741928|PMID:34166060|PMID:38483988
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:4362	cervical cancer		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532|PMID:35395208
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1347453	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19246562|PMID:24394663
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:630	genetic disease		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:35395208
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:8923	skin melanoma		ISO	RGD:1347453	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:25741868|PMID:26619011
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:9002981	Genomic Instability		ISO	RGD:1347453	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17588203
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1347453	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:33057194
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:9006618	Liver Metastasis	disease_progression	ISO	RGD:1347453	D	RGD:9068941	20200609	RGD		associated with colorectal cancer;	PMID:28846828|REF_RGD_ID:21408566
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1347453	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23104009
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1347453	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:25741868
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1347453	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:17588203
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8721499	Fbxw7	F-box and WD repeat domain containing 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1347453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532|PMID:35395208
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:0014667	disease of metabolism		ISO	RGD:735945	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Metabolic disease	
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:0060058	lymphoma		ISO	RGD:735945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:28492532
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	ISO	RGD:2396	D	RGD:9068941	20250710	RGD			PMID:24814604|REF_RGD_ID:617183686
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:735945	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29289645
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:10390	D	RGD:9068941	20200609	RGD			PMID:31211621|REF_RGD_ID:14747028
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:2396	D	RGD:9068941	20230914	RGD			PMID:28458350|REF_RGD_ID:401799674
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:0090129	carnitine palmitoyltransferase I deficiency		ISO	RGD:735945	D	RGD:7240710	20180130	OMIM			
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:0090129	carnitine palmitoyltransferase I deficiency		ISO	RGD:735945	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY | ClinVar Annotator: match by term: CPT DEFICIENCY, HEPATIC, TYPE I | ClinVar Annotator: match by term: CPT deficiency, hepatic, type IA | ClinVar Annotator: match by term: CPT1A-related disorder | ClinVar Annotator: match by term: Carnitine Palmitoyltransferase IA Deficiency | ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase I deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase type I deficiency | ClinVar Annotator: match by term: carnitine palmitoyl transferase 1A deficiency	PMID:11350182|PMID:11350183|PMID:11441142|PMID:12111367|PMID:12189492|PMID:12351641|PMID:14517221|PMID:15110323|PMID:15669684|PMID:16146704|PMID:16169268|PMID:16199547|PMID:16697732|PMID:16958601|PMID:17576681|PMID:19181627|PMID:19217814|PMID:19345525|PMID:20301700|PMID:20696606|PMID:21228398|PMID:21253826|PMID:21763168|PMID:21962599|PMID:23090344|PMID:23430491|PMID:23430932|PMID:23700290|PMID:24033266|PMID:25449608|PMID:25640679|PMID:25741868|PMID:26010953|PMID:26820065|PMID:27066452|PMID:27884173|PMID:28125087|PMID:28468868|PMID:28492532|PMID:29519241|PMID:31319225|PMID:32088118|PMID:32561900|PMID:32781271|PMID:33845545|PMID:34131458|PMID:34233743|PMID:34374989|PMID:34869124|PMID:35360862|PMID:35822099|PMID:36544340|PMID:39086449|PMID:9536098
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:10534	stomach cancer		ISO	RGD:735945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:1115	sarcoma		ISO	RGD:735945	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:2396	D	RGD:9068941	20200609	RGD			PMID:27939985|REF_RGD_ID:15036816
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:12849	autistic disorder		ISO	RGD:735945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:1324	lung cancer		ISO	RGD:735945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:10390	D	RGD:9068941	20231019	RGD			PMID:23650230|REF_RGD_ID:401842363
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:3146	lipid metabolism disorder		ISO	RGD:735945	D	RGD:9068941	20200609	RGD		CPT IA deficiency, OMIM:255120, D454G	PMID:9691089|REF_RGD_ID:1600732
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:3275	thymoma		ISO	RGD:735945	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:3319	lymphangioleiomyomatosis		ISO	RGD:735945	D	RGD:9068941	20220630	RGD		protein:increased expression:lung (human)	PMID:29885404|REF_RGD_ID:152995523
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:4362	cervical cancer		ISO	RGD:735945	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:17576681|PMID:28492532|PMID:9536098
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:735945	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:17576681|PMID:28492532|PMID:9536098
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:28492532|PMID:9536098
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735945	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:630	genetic disease		ISO	RGD:735945	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11441142|PMID:16958601|PMID:17576681|PMID:19181627|PMID:19217814|PMID:20301700|PMID:20696606|PMID:21253826|PMID:21763168|PMID:23090344|PMID:25449608|PMID:25741868|PMID:26010953|PMID:26820065|PMID:28125087|PMID:28492532|PMID:32088118|PMID:32561900|PMID:34131458|PMID:9536098
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:783	end stage renal disease		ISO	RGD:2396	D	RGD:9068941	20230914	RGD		protein:decreased expression:kidney (rat)	PMID:19878707|REF_RGD_ID:2326081
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:783	end stage renal disease		ISO	RGD:735945	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19878707
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:2396	D	RGD:9068941	20230713	RGD		mRNA, protein:decreased expression:heart (rat)	PMID:30644033|REF_RGD_ID:329955369
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:9002669	Hypoxia	treatment	ISO	RGD:2396	D	RGD:9068941	20230720	RGD		mRNA:decreased expression:left ventricle myocardium (rat)	PMID:33310031|REF_RGD_ID:329955450
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:2396	D	RGD:9068941	20230713	RGD		mRNA, protein:decreased expression:heart (rat)	PMID:30644033|REF_RGD_ID:329955369
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:735945	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver hepatocytes	PMID:15685545|REF_RGD_ID:5683635
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:735945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:735945	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:17576681|PMID:28492532|PMID:9536098
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:2396	D	RGD:9068941	20230831	RGD		mRNA:decreased expression:liver (rat)	PMID:28959666|REF_RGD_ID:401794432
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:735945	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151356
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735945	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:9256	colorectal cancer		ISO	RGD:735945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:9351	diabetes mellitus		ISO	RGD:735945	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233164
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2396	D	RGD:9068941	20200609	RGD			PMID:19553925|REF_RGD_ID:2311344
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735945	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:9970	obesity		ISO	RGD:2396	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:16751799|REF_RGD_ID:2311345
8721541	Cpt1a	carnitine palmitoyltransferase 1A	gene	DOID:9970	obesity	treatment	ISO	RGD:2396	D	RGD:9068941	20230720	RGD		mRNA:decreased expression:left ventricle myocardium (rat)	PMID:33310031|REF_RGD_ID:329955450
8721567	Chpf	chondroitin polymerizing factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8721567	Chpf	chondroitin polymerizing factor	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1603198	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
8721567	Chpf	chondroitin polymerizing factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721567	Chpf	chondroitin polymerizing factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8721581	Ptov1	PTOV1 extended AT-hook containing adaptor protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8721581	Ptov1	PTOV1 extended AT-hook containing adaptor protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8721581	Ptov1	PTOV1 extended AT-hook containing adaptor protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8721581	Ptov1	PTOV1 extended AT-hook containing adaptor protein	gene	DOID:1909	melanoma		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8721581	Ptov1	PTOV1 extended AT-hook containing adaptor protein	gene	DOID:4362	cervical cancer		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8721581	Ptov1	PTOV1 extended AT-hook containing adaptor protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1315896	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8721581	Ptov1	PTOV1 extended AT-hook containing adaptor protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721581	Ptov1	PTOV1 extended AT-hook containing adaptor protein	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1315896	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8721581	Ptov1	PTOV1 extended AT-hook containing adaptor protein	gene	DOID:9000918	Disease Progression		ISO	RGD:1315896	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8721581	Ptov1	PTOV1 extended AT-hook containing adaptor protein	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8721581	Ptov1	PTOV1 extended AT-hook containing adaptor protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8721618	Rce1	Ras converting CAAX endopeptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8721618	Rce1	Ras converting CAAX endopeptidase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8721618	Rce1	Ras converting CAAX endopeptidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8721618	Rce1	Ras converting CAAX endopeptidase 1	gene	DOID:1324	lung cancer		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8721618	Rce1	Ras converting CAAX endopeptidase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8721618	Rce1	Ras converting CAAX endopeptidase 1	gene	DOID:3275	thymoma		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8721618	Rce1	Ras converting CAAX endopeptidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721618	Rce1	Ras converting CAAX endopeptidase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8721618	Rce1	Ras converting CAAX endopeptidase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8721618	Rce1	Ras converting CAAX endopeptidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8721634	Selenom	selenoprotein M	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8721634	Selenom	selenoprotein M	gene	DOID:4362	cervical cancer		ISO	RGD:1603181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8721634	Selenom	selenoprotein M	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721634	Selenom	selenoprotein M	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603181	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8721643	Rgs6	regulator of G protein signaling 6	gene	DOID:0050741	alcohol dependence		ISO	RGD:736970	D	RGD:9068941	20240502	RGD		associated with other drug dependencies; DNA:SNPs:CDS: (rs11621871)	PMID:27151647|REF_RGD_ID:405650603
8721643	Rgs6	regulator of G protein signaling 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8721643	Rgs6	regulator of G protein signaling 6	gene	DOID:10534	stomach cancer		ISO	RGD:736970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8721643	Rgs6	regulator of G protein signaling 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8721643	Rgs6	regulator of G protein signaling 6	gene	DOID:1324	lung cancer		ISO	RGD:736970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	PMID:25741868
8721643	Rgs6	regulator of G protein signaling 6	gene	DOID:2560	morphine dependence	treatment	ISO	RGD:736971	D	RGD:9068941	20250301	RGD			PMID:15199376|REF_RGD_ID:597830059
8721643	Rgs6	regulator of G protein signaling 6	gene	DOID:3275	thymoma		ISO	RGD:736970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8721643	Rgs6	regulator of G protein signaling 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8721672	Ap2a2	adaptor related protein complex 2 subunit alpha 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8721672	Ap2a2	adaptor related protein complex 2 subunit alpha 2	gene	DOID:1115	sarcoma		ISO	RGD:735567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8721672	Ap2a2	adaptor related protein complex 2 subunit alpha 2	gene	DOID:3275	thymoma		ISO	RGD:735567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8721672	Ap2a2	adaptor related protein complex 2 subunit alpha 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8721672	Ap2a2	adaptor related protein complex 2 subunit alpha 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8721672	Ap2a2	adaptor related protein complex 2 subunit alpha 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721672	Ap2a2	adaptor related protein complex 2 subunit alpha 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8721672	Ap2a2	adaptor related protein complex 2 subunit alpha 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8721672	Ap2a2	adaptor related protein complex 2 subunit alpha 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8721672	Ap2a2	adaptor related protein complex 2 subunit alpha 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8721708	Znf326	zinc finger protein 326	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8721708	Znf326	zinc finger protein 326	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8721708	Znf326	zinc finger protein 326	gene	DOID:1324	lung cancer		ISO	RGD:1601703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8721708	Znf326	zinc finger protein 326	gene	DOID:1909	melanoma		ISO	RGD:1601703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8721708	Znf326	zinc finger protein 326	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8721708	Znf326	zinc finger protein 326	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8721708	Znf326	zinc finger protein 326	gene	DOID:4362	cervical cancer		ISO	RGD:1601703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8721708	Znf326	zinc finger protein 326	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8721708	Znf326	zinc finger protein 326	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721708	Znf326	zinc finger protein 326	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8721708	Znf326	zinc finger protein 326	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8721724	Grap	GRB2 related adaptor protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8721724	Grap	GRB2 related adaptor protein	gene	DOID:0111642	autosomal recessive nonsyndromic deafness 114		ISO	RGD:1353606	D	RGD:7240710	20190626	OMIM			
8721724	Grap	GRB2 related adaptor protein	gene	DOID:0111642	autosomal recessive nonsyndromic deafness 114		ISO	RGD:1353606	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 114	PMID:25741868|PMID:30610177
8721742	Ndufs8	NADH:ubiquinone oxidoreductase core subunit S8	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1319779	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF	PMID:28492532
8721742	Ndufs8	NADH:ubiquinone oxidoreductase core subunit S8	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1319779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:25741868|PMID:28492532
8721742	Ndufs8	NADH:ubiquinone oxidoreductase core subunit S8	gene	DOID:0112083	nuclear type mitochondrial complex I deficiency 2		ISO	RGD:1319779	D	RGD:7240710	20190315	OMIM			
8721742	Ndufs8	NADH:ubiquinone oxidoreductase core subunit S8	gene	DOID:0112083	nuclear type mitochondrial complex I deficiency 2		ISO	RGD:1319779	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 2 | ClinVar Annotator: match by term: NDUFS8-related condition	PMID:15159508|PMID:20818383|PMID:23430795|PMID:25741868|PMID:28492532|PMID:32235386|PMID:32445240|PMID:34052969|PMID:38703036
8721742	Ndufs8	NADH:ubiquinone oxidoreductase core subunit S8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8721742	Ndufs8	NADH:ubiquinone oxidoreductase core subunit S8	gene	DOID:3652	Leigh disease		ISO	RGD:1319779	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy	PMID:25326637|PMID:25741868|PMID:28492532
8721742	Ndufs8	NADH:ubiquinone oxidoreductase core subunit S8	gene	DOID:4362	cervical cancer		ISO	RGD:1319779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8721742	Ndufs8	NADH:ubiquinone oxidoreductase core subunit S8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721742	Ndufs8	NADH:ubiquinone oxidoreductase core subunit S8	gene	DOID:630	genetic disease		ISO	RGD:1319779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8721742	Ndufs8	NADH:ubiquinone oxidoreductase core subunit S8	gene	DOID:8398	osteoarthritis		ISO	RGD:1319779	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8721753	Fam110b	family with sequence similarity 110 member B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8721753	Fam110b	family with sequence similarity 110 member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8721753	Fam110b	family with sequence similarity 110 member B	gene	DOID:1324	lung cancer		ISO	RGD:1605314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8721753	Fam110b	family with sequence similarity 110 member B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8721753	Fam110b	family with sequence similarity 110 member B	gene	DOID:3275	thymoma		ISO	RGD:1605314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8721753	Fam110b	family with sequence similarity 110 member B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8721753	Fam110b	family with sequence similarity 110 member B	gene	DOID:5041	esophageal cancer		ISO	RGD:1605314	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8721753	Fam110b	family with sequence similarity 110 member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721753	Fam110b	family with sequence similarity 110 member B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8721753	Fam110b	family with sequence similarity 110 member B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8721772	Mb21d2	Mab-21 domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8721772	Mb21d2	Mab-21 domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1601820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8721772	Mb21d2	Mab-21 domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1601820	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8721787	Cmya5	cardiomyopathy associated 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8721787	Cmya5	cardiomyopathy associated 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8721787	Cmya5	cardiomyopathy associated 5	gene	DOID:10534	stomach cancer		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8721787	Cmya5	cardiomyopathy associated 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8721787	Cmya5	cardiomyopathy associated 5	gene	DOID:1115	sarcoma		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8721787	Cmya5	cardiomyopathy associated 5	gene	DOID:1324	lung cancer		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8721787	Cmya5	cardiomyopathy associated 5	gene	DOID:1909	melanoma		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8721787	Cmya5	cardiomyopathy associated 5	gene	DOID:3275	thymoma		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8721787	Cmya5	cardiomyopathy associated 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8721787	Cmya5	cardiomyopathy associated 5	gene	DOID:4362	cervical cancer		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8721787	Cmya5	cardiomyopathy associated 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8721787	Cmya5	cardiomyopathy associated 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1321357	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8721787	Cmya5	cardiomyopathy associated 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721787	Cmya5	cardiomyopathy associated 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8721787	Cmya5	cardiomyopathy associated 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8721787	Cmya5	cardiomyopathy associated 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8721787	Cmya5	cardiomyopathy associated 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8721822	Trim11	tripartite motif containing 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8721822	Trim11	tripartite motif containing 11	gene	DOID:2394	ovarian cancer		ISO	RGD:1313482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8721822	Trim11	tripartite motif containing 11	gene	DOID:4362	cervical cancer		ISO	RGD:1313482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8721822	Trim11	tripartite motif containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721822	Trim11	tripartite motif containing 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8721822	Trim11	tripartite motif containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8721834	Galk1	galactokinase 1	gene	DOID:0060733	junctional epidermolysis bullosa with pyloric atresia		ISO	RGD:1313365	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia	PMID:10484780|PMID:11328943|PMID:11886501|PMID:12485428|PMID:18955862|PMID:20301304|PMID:23496044|PMID:25741868|PMID:28492532|PMID:9792864|PMID:9892956
8721834	Galk1	galactokinase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1313365	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8721834	Galk1	galactokinase 1	gene	DOID:14695	galactokinase deficiency		ISO	RGD:1313365	D	RGD:7240710	20180130	OMIM			
8721834	Galk1	galactokinase 1	gene	DOID:14695	galactokinase deficiency		ISO	RGD:1313365	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deficiency of galactokinase | ClinVar Annotator: match by term: GALACTOSEMIA II | ClinVar Annotator: match by term: GALK1-related condition | ClinVar Annotator: match by term: Galactokinase deficiency with cataracts	PMID:10521295|PMID:10570908|PMID:10790206|PMID:11139256|PMID:11231902|PMID:11978883|PMID:11978884|PMID:12647253|PMID:12694189|PMID:12796487|PMID:12942049|PMID:14596685|PMID:15024738|PMID:15590630|PMID:16199547|PMID:17517531|PMID:17576681|PMID:19309526|PMID:20405025|PMID:21264483|PMID:21290184|PMID:22632133|PMID:25741868|PMID:27307692|PMID:27334249|PMID:28173647|PMID:28253266|PMID:28418495|PMID:28429145|PMID:28468868|PMID:28492532|PMID:28672748|PMID:29505688|PMID:29770612|PMID:29893426|PMID:32807972|PMID:33562227|PMID:33763395|PMID:38090149|PMID:7670469|PMID:9536098
8721834	Galk1	galactokinase 1	gene	DOID:1909	melanoma		ISO	RGD:1313365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8721834	Galk1	galactokinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8721834	Galk1	galactokinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721834	Galk1	galactokinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8721834	Galk1	galactokinase 1	gene	DOID:630	genetic disease		ISO	RGD:1313365	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8721834	Galk1	galactokinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8721834	Galk1	galactokinase 1	gene	DOID:83	cataract		ISO	RGD:1313365	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7670469
8721834	Galk1	galactokinase 1	gene	DOID:83	cataract		ISO	RGD:1313365	D	RGD:9068941	20200609	RGD		DNA:missense mutation, nonsense mutation:cds:p.V32M, p.E80X (human)	PMID:7670469|REF_RGD_ID:1300192
8721834	Galk1	galactokinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8721834	Galk1	galactokinase 1	gene	DOID:9870	galactosemia		ISO	RGD:1313365	D	RGD:9068941	20250703	CTD		CTD Direct Evidence: marker/mechanism	PMID:7670469
8721859	Stkld1	serine/threonine kinase like domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8721859	Stkld1	serine/threonine kinase like domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8721859	Stkld1	serine/threonine kinase like domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8721859	Stkld1	serine/threonine kinase like domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8721859	Stkld1	serine/threonine kinase like domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8721859	Stkld1	serine/threonine kinase like domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721859	Stkld1	serine/threonine kinase like domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8721859	Stkld1	serine/threonine kinase like domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8721859	Stkld1	serine/threonine kinase like domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8721913	Far2	fatty acyl-CoA reductase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8721913	Far2	fatty acyl-CoA reductase 2	gene	DOID:10140	dry eye syndrome		ISO	RGD:1556953	D	RGD:9068941	20221103	MouseDO			
8721913	Far2	fatty acyl-CoA reductase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1344680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8721913	Far2	fatty acyl-CoA reductase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8721913	Far2	fatty acyl-CoA reductase 2	gene	DOID:1115	sarcoma		ISO	RGD:1344680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8721913	Far2	fatty acyl-CoA reductase 2	gene	DOID:1324	lung cancer		ISO	RGD:1344680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8721913	Far2	fatty acyl-CoA reductase 2	gene	DOID:1909	melanoma		ISO	RGD:1344680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8721913	Far2	fatty acyl-CoA reductase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1344680	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8721913	Far2	fatty acyl-CoA reductase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721913	Far2	fatty acyl-CoA reductase 2	gene	DOID:987	alopecia		ISO	RGD:1556953	D	RGD:9068941	20220825	MouseDO		OMIM:300042	
8721935	Hmbox1	homeobox containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8721935	Hmbox1	homeobox containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1603011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8721935	Hmbox1	homeobox containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603011	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8721935	Hmbox1	homeobox containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603011	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8721935	Hmbox1	homeobox containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721935	Hmbox1	homeobox containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8721935	Hmbox1	homeobox containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8721935	Hmbox1	homeobox containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8721968	Mrgprd	MAS related GPR family member D	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1553636	D	RGD:9068941	20220825	MouseDO			
8721971	Lgals8	galectin 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8721971	Lgals8	galectin 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8721971	Lgals8	galectin 8	gene	DOID:1115	sarcoma		ISO	RGD:1354427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8721971	Lgals8	galectin 8	gene	DOID:1324	lung cancer		ISO	RGD:1354427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8721971	Lgals8	galectin 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8721971	Lgals8	galectin 8	gene	DOID:3275	thymoma		ISO	RGD:1354427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8721971	Lgals8	galectin 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8721971	Lgals8	galectin 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8721971	Lgals8	galectin 8	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8721971	Lgals8	galectin 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8721971	Lgals8	galectin 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8721971	Lgals8	galectin 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354427	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8722001	Chsy1	chondroitin sulfate synthase 1	gene	DOID:0050814	temtamy preaxial brachydactyly syndrome		ISO	RGD:1323606	D	RGD:7240710	20180130	OMIM			
8722001	Chsy1	chondroitin sulfate synthase 1	gene	DOID:0050814	temtamy preaxial brachydactyly syndrome		ISO	RGD:1323606	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CHSY1-related condition | ClinVar Annotator: match by term: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME | ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome	PMID:21129727|PMID:21129728|PMID:25741868|PMID:26467025|PMID:28492532
8722001	Chsy1	chondroitin sulfate synthase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8722001	Chsy1	chondroitin sulfate synthase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8722001	Chsy1	chondroitin sulfate synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8722001	Chsy1	chondroitin sulfate synthase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8722001	Chsy1	chondroitin sulfate synthase 1	gene	DOID:630	genetic disease		ISO	RGD:1323606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21129728|PMID:25741868|PMID:28492532
8722001	Chsy1	chondroitin sulfate synthase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323606	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8722001	Chsy1	chondroitin sulfate synthase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1323606	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:30872814
8722001	Chsy1	chondroitin sulfate synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8722030	Fam241b	family with sequence similarity 241 member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8722030	Fam241b	family with sequence similarity 241 member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8722030	Fam241b	family with sequence similarity 241 member B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8722047	Tlx3	T cell leukemia homeobox 3	gene	DOID:0060731	congenital central hypoventilation syndrome		ISO	RGD:1615148	D	RGD:9068941	20220825	MouseDO		OMIM:209880	
8722047	Tlx3	T cell leukemia homeobox 3	gene	DOID:1612	breast cancer		ISO	RGD:1353737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
8722054	Prpf38a	pre-mRNA processing factor 38A	gene	DOID:4362	cervical cancer		ISO	RGD:1602851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8722054	Prpf38a	pre-mRNA processing factor 38A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8722054	Prpf38a	pre-mRNA processing factor 38A	gene	DOID:5041	esophageal cancer		ISO	RGD:1602851	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8722054	Prpf38a	pre-mRNA processing factor 38A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8722054	Prpf38a	pre-mRNA processing factor 38A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8722054	Prpf38a	pre-mRNA processing factor 38A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8722054	Prpf38a	pre-mRNA processing factor 38A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8722068	Snrpn	small nuclear ribonucleoprotein polypeptide N	gene	DOID:11983	Prader-Willi syndrome		ISO	RGD:735464	D	RGD:9068941	20250724	MouseDO		OMIM:176270	
8722068	Snrpn	small nuclear ribonucleoprotein polypeptide N	gene	DOID:11983	Prader-Willi syndrome	susceptibility	ISO	RGD:1343749	D	RGD:9068941	20200609	RGD		DNA:deletion	PMID:8723064|REF_RGD_ID:1601354
8722068	Snrpn	small nuclear ribonucleoprotein polypeptide N	gene	DOID:12849	autistic disorder		ISO	RGD:1343749	D	RGD:8554872	20250423	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
8722068	Snrpn	small nuclear ribonucleoprotein polypeptide N	gene	DOID:1932	Angelman syndrome		ISO	RGD:735464	D	RGD:9068941	20250724	MouseDO		OMIM:105830	
8722088	Ccdc178	coiled-coil domain containing 178	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8722088	Ccdc178	coiled-coil domain containing 178	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8722088	Ccdc178	coiled-coil domain containing 178	gene	DOID:10534	stomach cancer		ISO	RGD:1317773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8722088	Ccdc178	coiled-coil domain containing 178	gene	DOID:1115	sarcoma		ISO	RGD:1317773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8722088	Ccdc178	coiled-coil domain containing 178	gene	DOID:1909	melanoma		ISO	RGD:1317773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8722088	Ccdc178	coiled-coil domain containing 178	gene	DOID:5041	esophageal cancer		ISO	RGD:1317773	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8722088	Ccdc178	coiled-coil domain containing 178	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8722127	Proca1	protein interacting with cyclin A1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8722127	Proca1	protein interacting with cyclin A1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8722127	Proca1	protein interacting with cyclin A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8722127	Proca1	protein interacting with cyclin A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8722127	Proca1	protein interacting with cyclin A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8722159	Enkd1	enkurin domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8722159	Enkd1	enkurin domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8722159	Enkd1	enkurin domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8722159	Enkd1	enkurin domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8722175	Rab3ip	RAB3A interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8722175	Rab3ip	RAB3A interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:732155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8722175	Rab3ip	RAB3A interacting protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732155	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8722175	Rab3ip	RAB3A interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:732155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8722175	Rab3ip	RAB3A interacting protein	gene	DOID:1324	lung cancer		ISO	RGD:732155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8722175	Rab3ip	RAB3A interacting protein	gene	DOID:3070	high grade glioma		ISO	RGD:732155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8722175	Rab3ip	RAB3A interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:732155	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8722175	Rab3ip	RAB3A interacting protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8722175	Rab3ip	RAB3A interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8722175	Rab3ip	RAB3A interacting protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8722175	Rab3ip	RAB3A interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8722175	Rab3ip	RAB3A interacting protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8722193	Dst	dystonin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8722193	Dst	dystonin	gene	DOID:0050591	tooth agenesis		ISO	RGD:1605439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypodontia	
8722193	Dst	dystonin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8722193	Dst	dystonin	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1605439	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
8722193	Dst	dystonin	gene	DOID:0061260	congenital myopathy 29		ISO	RGD:1605439	D	RGD:7240710	20260408	OMIM			
8722193	Dst	dystonin	gene	DOID:0061260	congenital myopathy 29		ISO	RGD:1605439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 29 WITH CONTRACTURES	
8722193	Dst	dystonin	gene	DOID:0061268	lethal congenital contracture syndrome 12		ISO	RGD:1605439	D	RGD:7240710	20260408	OMIM			
8722193	Dst	dystonin	gene	DOID:0061268	lethal congenital contracture syndrome 12		ISO	RGD:1605439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LETHAL CONGENITAL CONTRACTURE SYNDROME 12	PMID:22522446|PMID:25059916|PMID:28492532|PMID:30371979
8722193	Dst	dystonin	gene	DOID:0070151	hereditary sensory and autonomic neuropathy type 6		ISO	RGD:1605439	D	RGD:7240710	20180130	OMIM			
8722193	Dst	dystonin	gene	DOID:0070151	hereditary sensory and autonomic neuropathy type 6		ISO	RGD:1605439	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HSAN VI | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 6 | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VI | ClinVar Annotator: match by term: hereditary sensory and autonomic neuropathy type 6	PMID:16199547|PMID:22522446|PMID:25059916|PMID:25741868|PMID:28492532|PMID:30371979|PMID:31980526|PMID:32528525|PMID:32802955
8722193	Dst	dystonin	gene	DOID:10485	esophageal atresia		ISO	RGD:1605439	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
8722193	Dst	dystonin	gene	DOID:13714	anodontia		ISO	RGD:1605439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypodontia	
8722193	Dst	dystonin	gene	DOID:2377	multiple sclerosis		ISO	RGD:1605439	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Multiple sclerosis	PMID:25741868|PMID:28492532
8722193	Dst	dystonin	gene	DOID:630	genetic disease		ISO	RGD:1605439	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:17849487|PMID:22522446|PMID:23056405|PMID:25059916|PMID:25741868|PMID:27698030|PMID:28492532|PMID:30371979|PMID:30949922|PMID:32802955|PMID:7670468|PMID:9536098
8722193	Dst	dystonin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8722193	Dst	dystonin	gene	DOID:9001248	Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency		ISO	RGD:1605439	D	RGD:7240710	20180130	OMIM			
8722193	Dst	dystonin	gene	DOID:9001248	Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency		ISO	RGD:1605439	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DST-related condition | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive 2	PMID:16199547|PMID:17576681|PMID:22113475|PMID:22522446|PMID:25059916|PMID:25741868|PMID:25790160|PMID:28492532|PMID:28558912|PMID:28767192|PMID:30371979|PMID:31980526|PMID:32528525|PMID:33471381|PMID:9536098
8722193	Dst	dystonin	gene	DOID:9006519	Generalized Epidermolysis Bullosa Simplex 1D		ISO	RGD:1605439	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8722193	Dst	dystonin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:0070450	mitochondrial DNA depletion syndrome 19		ISO	RGD:1350550	D	RGD:7240710	20200812	OMIM			
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:0070450	mitochondrial DNA depletion syndrome 19		ISO	RGD:1350550	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 19 | ClinVar Annotator: match by term: SLC25A10-related condition	PMID:25741868|PMID:29211846
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1350550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:25741868|PMID:29211846
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:10534	stomach cancer		ISO	RGD:1350550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:10579	leukodystrophy		ISO	RGD:1350550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:1115	sarcoma		ISO	RGD:1350550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1350550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:1324	lung cancer		ISO	RGD:1350550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:1827	generalized epilepsy		ISO	RGD:1350550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868|PMID:29211846
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:305	carcinoma		ISO	RGD:1350550	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:4362	cervical cancer		ISO	RGD:1350550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:6039	uveal melanoma		ISO	RGD:1350550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1350550	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1350550	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:9008675	Dyskinesias		ISO	RGD:1350550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:25741868
8722318	Slc25a10	solute carrier family 25 member 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8722343	Wdr12	WD repeat domain 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8722343	Wdr12	WD repeat domain 12	gene	DOID:10534	stomach cancer		ISO	RGD:1353160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8722343	Wdr12	WD repeat domain 12	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1353160	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25915632
8722343	Wdr12	WD repeat domain 12	gene	DOID:1324	lung cancer		ISO	RGD:1353160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8722343	Wdr12	WD repeat domain 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8722343	Wdr12	WD repeat domain 12	gene	DOID:3275	thymoma		ISO	RGD:1353160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8722343	Wdr12	WD repeat domain 12	gene	DOID:3393	coronary artery disease		ISO	RGD:1353160	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378990
8722343	Wdr12	WD repeat domain 12	gene	DOID:4362	cervical cancer		ISO	RGD:1353160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8722343	Wdr12	WD repeat domain 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8722343	Wdr12	WD repeat domain 12	gene	DOID:5844	myocardial infarction		ISO	RGD:1353160	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19198609|PMID:25915632
8722343	Wdr12	WD repeat domain 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8722343	Wdr12	WD repeat domain 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8722343	Wdr12	WD repeat domain 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8722367	Lrrc74a	leucine rich repeat containing 74A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8722367	Lrrc74a	leucine rich repeat containing 74A	gene	DOID:1115	sarcoma		ISO	RGD:1351641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8722367	Lrrc74a	leucine rich repeat containing 74A	gene	DOID:1324	lung cancer		ISO	RGD:1351641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8722367	Lrrc74a	leucine rich repeat containing 74A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8722367	Lrrc74a	leucine rich repeat containing 74A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8722402	Prkag3	protein kinase AMP-activated non-catalytic subunit gamma 3	gene	DOID:2978	carbohydrate metabolic disorder		ISO	RGD:1318621	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10818001|PMID:17878938
8722402	Prkag3	protein kinase AMP-activated non-catalytic subunit gamma 3	gene	DOID:3146	lipid metabolism disorder		ISO	RGD:1318621	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17878938
8722402	Prkag3	protein kinase AMP-activated non-catalytic subunit gamma 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8722430	Nrg1	neuregulin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8722430	Nrg1	neuregulin 1	gene	DOID:0050742	nicotine dependence	sexual_dimorphism	ISO	RGD:731515	D	RGD:9068941	20240328	RGD		in female;DNA:SNP: :rs6994992(human)	PMID:27353026|REF_RGD_ID:405100235
8722430	Nrg1	neuregulin 1	gene	DOID:0050848	obstructive sleep apnea	susceptibility	ISO	RGD:731515	D	RGD:9068941	20240328	RGD		DNA:SNP: :rs10097555(human)	PMID:25325441|REF_RGD_ID:405100236
8722430	Nrg1	neuregulin 1	gene	DOID:0070082	schizophrenia 6		ISO	RGD:731515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NRG1-related condition	PMID:28492532
8722430	Nrg1	neuregulin 1	gene	DOID:0070082	schizophrenia 6	susceptibility	ISO	RGD:731515	D	RGD:9068941	20260115	RGD		DNA:SNP:enhancer, haplotype:	PMID:15704228|PMID:16526041|REF_RGD_ID:39128257|REF_RGD_ID:39456086
8722430	Nrg1	neuregulin 1	gene	DOID:0070355	overactive bladder syndrome	treatment	ISO	RGD:621341	D	RGD:9068941	20200609	RGD			PMID:24152577|REF_RGD_ID:10449030
8722430	Nrg1	neuregulin 1	gene	DOID:0080600	COVID-19		ISO	RGD:731515	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8722430	Nrg1	neuregulin 1	gene	DOID:0110148	Charcot-Marie-Tooth disease type 1A		ISO	RGD:735609	D	RGD:9068941	20240502	RGD			PMID:30931926|REF_RGD_ID:405650604
8722430	Nrg1	neuregulin 1	gene	DOID:10376	amblyopia		ISO	RGD:621341	D	RGD:9068941	20240411	RGD		protein:decreased expression:visual cortex	PMID:34273906|REF_RGD_ID:405649729
8722430	Nrg1	neuregulin 1	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:731515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22974608
8722430	Nrg1	neuregulin 1	gene	DOID:10534	stomach cancer		ISO	RGD:731515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8722430	Nrg1	neuregulin 1	gene	DOID:10595	Charcot-Marie-Tooth disease	treatment	ISO	RGD:731515	D	RGD:9068941	20200609	RGD			PMID:25150498|REF_RGD_ID:10449027
8722430	Nrg1	neuregulin 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:621341	D	RGD:9068941	20240418	RGD			PMID:27558862|REF_RGD_ID:405650194
8722430	Nrg1	neuregulin 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731515	D	RGD:9068941	20200609	RGD			PMID:12528817|REF_RGD_ID:10449002
8722430	Nrg1	neuregulin 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731515	D	RGD:9068941	20240427	RGD		protein:decreased expression:hippocampus	PMID:29914798|REF_RGD_ID:13703135
8722430	Nrg1	neuregulin 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735609	D	RGD:9068941	20200609	RGD			PMID:12528817|REF_RGD_ID:10449002
8722430	Nrg1	neuregulin 1	gene	DOID:10652	Alzheimer's disease	disease_progression	ISO	RGD:731515	D	RGD:9068941	20210212	RGD			PMID:29295823|REF_RGD_ID:41404730
8722430	Nrg1	neuregulin 1	gene	DOID:10808	gastric ulcer		ISO	RGD:731515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16357062
8722430	Nrg1	neuregulin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8722430	Nrg1	neuregulin 1	gene	DOID:1115	sarcoma		ISO	RGD:731515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8722430	Nrg1	neuregulin 1	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:621341	D	RGD:9068941	20200609	RGD			PMID:20957456|REF_RGD_ID:10449012
8722430	Nrg1	neuregulin 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:731515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8722430	Nrg1	neuregulin 1	gene	DOID:11914	gastroparesis		ISO	RGD:731515	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:39689756
8722430	Nrg1	neuregulin 1	gene	DOID:1307	dementia	treatment	ISO	RGD:731515	D	RGD:9068941	20200609	RGD			PMID:21473886|REF_RGD_ID:10054040
8722430	Nrg1	neuregulin 1	gene	DOID:1324	lung cancer		ISO	RGD:731515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8722430	Nrg1	neuregulin 1	gene	DOID:13949	interstitial cystitis	disease_progression	ISO	RGD:621341	D	RGD:9068941	20240411	RGD			PMID:30989724|REF_RGD_ID:405295490
8722430	Nrg1	neuregulin 1	gene	DOID:14069	cerebral malaria		ISO	RGD:735609	D	RGD:9068941	20201001	RGD		mRNA, protein:increased expression:cerebral cortex (mouse)	PMID:29636063|REF_RGD_ID:39456084
8722430	Nrg1	neuregulin 1	gene	DOID:14069	cerebral malaria	treatment	ISO	RGD:731515	D	RGD:9068941	20201002	RGD		human protein in a mouse model	PMID:24433482|REF_RGD_ID:39456102
8722430	Nrg1	neuregulin 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:731515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8722430	Nrg1	neuregulin 1	gene	DOID:1470	major depressive disorder		ISO	RGD:731515	D	RGD:9068941	20210212	RGD		mRNA:increased expression:prefrontal cortex	PMID:29295823|REF_RGD_ID:41404730
8722430	Nrg1	neuregulin 1	gene	DOID:1574	alcohol use disorder	sexual_dimorphism	ISO	RGD:731515	D	RGD:9068941	20240328	RGD		in female, associated with stressful life event;DNA:SNP: :rs6994992(human)	PMID:27353026|REF_RGD_ID:405100235
8722430	Nrg1	neuregulin 1	gene	DOID:1824	status epilepticus		ISO	RGD:621341	D	RGD:9068941	20241114	RGD		mRNA:increased expression:hippocampus	PMID:22158510|REF_RGD_ID:10449024
8722430	Nrg1	neuregulin 1	gene	DOID:1826	epilepsy		ISO	RGD:621341	D	RGD:9068941	20240411	RGD		protein:increased expression:hippocampus	PMID:28350885|REF_RGD_ID:405649727
8722430	Nrg1	neuregulin 1	gene	DOID:1849	cannabis dependence	susceptibility	ISO	RGD:731515	D	RGD:9068941	20240404	RGD		DNA:SNP: :rs17664708(human)	PMID:22520967|REF_RGD_ID:405115756
8722430	Nrg1	neuregulin 1	gene	DOID:1909	melanoma		ISO	RGD:731515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8722430	Nrg1	neuregulin 1	gene	DOID:224	transient cerebral ischemia	ameliorates	ISO	RGD:731515	D	RGD:9068941	20240427	RGD			PMID:30206770|REF_RGD_ID:405650589
8722430	Nrg1	neuregulin 1	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:731515	D	RGD:9068941	20240411	RGD			PMID:31560696|REF_RGD_ID:405649728
8722430	Nrg1	neuregulin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8722430	Nrg1	neuregulin 1	gene	DOID:2394	ovarian cancer	treatment	ISO	RGD:731515	D	RGD:9068941	20201002	RGD		mRNA, protein:increased expression:ovary, fallopian tube, peritoneum (human)	PMID:27998236|REF_RGD_ID:39456103
8722430	Nrg1	neuregulin 1	gene	DOID:2468	psychotic disorder	no_association	ISO	RGD:731515	D	RGD:9068941	20200609	RGD		associated with Alzheimer Disease;DNA:missense mutation, SNP:cds, enhancer: (rs3924999, rs35753505) (human)	PMID:20182055|REF_RGD_ID:10449000
8722430	Nrg1	neuregulin 1	gene	DOID:2468	psychotic disorder	susceptibility	ISO	RGD:731515	D	RGD:9068941	20200609	RGD		associated with Alzheimer's disease;DNA:missense mutation, haplotype:cds: (rs3924999) (human)	PMID:16082692|REF_RGD_ID:10449035
8722430	Nrg1	neuregulin 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:731515	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	
8722430	Nrg1	neuregulin 1	gene	DOID:2773	contact dermatitis		ISO	RGD:731515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
8722430	Nrg1	neuregulin 1	gene	DOID:302	substance abuse	susceptibility	ISO	RGD:731515	D	RGD:9068941	20240328	RGD		associated with stressful life event;DNA:SNP: :rs6994992(human)	PMID:27353026|REF_RGD_ID:405100235
8722430	Nrg1	neuregulin 1	gene	DOID:3178	skin papilloma		ISO	RGD:731515	D	RGD:9068941	20201001	RGD		DNA:hypermethylation:	PMID:31892232|REF_RGD_ID:39456089
8722430	Nrg1	neuregulin 1	gene	DOID:3213	demyelinating disease		ISO	RGD:735609	D	RGD:9068941	20240502	RGD		mRNA:increased expression:sciatic nerve	PMID:30931926|REF_RGD_ID:405650604
8722430	Nrg1	neuregulin 1	gene	DOID:3275	thymoma		ISO	RGD:731515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8722430	Nrg1	neuregulin 1	gene	DOID:3312	bipolar disorder		ISO	RGD:621341	D	RGD:9068941	20240504	RGD			PMID:34189720|REF_RGD_ID:405650687
8722430	Nrg1	neuregulin 1	gene	DOID:3312	bipolar disorder		ISO	RGD:731515	D	RGD:9068941	20201001	RGD		DNA:SNP:enhancer: (rs35753505)	PMID:18585932|REF_RGD_ID:39131291
8722430	Nrg1	neuregulin 1	gene	DOID:332	amyotrophic lateral sclerosis	ameliorates	ISO	RGD:731515	D	RGD:9068941	20240411	RGD			PMID:32032731|REF_RGD_ID:405295499
8722430	Nrg1	neuregulin 1	gene	DOID:3525	middle cerebral artery infarction	ameliorates	ISO	RGD:731515	D	RGD:9068941	20240427	RGD			PMID:30206770|REF_RGD_ID:405650589
8722430	Nrg1	neuregulin 1	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:731515	D	RGD:9068941	20200609	RGD			PMID:20691195|REF_RGD_ID:10449015
8722430	Nrg1	neuregulin 1	gene	DOID:399	tuberculosis	susceptibility	ISO	RGD:731515	D	RGD:9068941	20201001	RGD		DNA:SNP, haplotype: (rs16879814)	PMID:25919455|REF_RGD_ID:39456091
8722430	Nrg1	neuregulin 1	gene	DOID:480	movement disease		ISO	RGD:731515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22226049
8722430	Nrg1	neuregulin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:731515	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8722430	Nrg1	neuregulin 1	gene	DOID:5419	schizophrenia		ISO	RGD:621341	D	RGD:9068941	20210423	RGD		protein:increased expression:prefrontal cortex, hippocampus	PMID:20467458|REF_RGD_ID:126790484
8722430	Nrg1	neuregulin 1	gene	DOID:5419	schizophrenia		ISO	RGD:731515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12145742|PMID:17333138|PMID:17460065|PMID:17905522|PMID:20561508|PMID:20582876|PMID:20701826
8722430	Nrg1	neuregulin 1	gene	DOID:5419	schizophrenia		ISO	RGD:735609	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
8722430	Nrg1	neuregulin 1	gene	DOID:5419	schizophrenia		ISO	RGD:735609	D	RGD:9068941	20240411	RGD			PMID:28981869|REF_RGD_ID:405295498
8722430	Nrg1	neuregulin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8722430	Nrg1	neuregulin 1	gene	DOID:571	median neuropathy		ISO	RGD:621341	D	RGD:9068941	20200609	RGD			PMID:19296522|REF_RGD_ID:10449020
8722430	Nrg1	neuregulin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8722430	Nrg1	neuregulin 1	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:621341	D	RGD:9068941	20240418	RGD			PMID:26892146|REF_RGD_ID:11522702
8722430	Nrg1	neuregulin 1	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:731515	D	RGD:9068941	20240404	RGD			PMID:24200746|PMID:27993643|REF_RGD_ID:10449026|REF_RGD_ID:405145704
8722430	Nrg1	neuregulin 1	gene	DOID:6000	congestive heart failure		ISO	RGD:731515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19801490
8722430	Nrg1	neuregulin 1	gene	DOID:670	amphetamine abuse		ISO	RGD:731515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
8722430	Nrg1	neuregulin 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:731515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8722430	Nrg1	neuregulin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731515	D	RGD:9068941	20201002	RGD		mRNA:increased expression:liver (human)	PMID:27514687|REF_RGD_ID:39456110
8722430	Nrg1	neuregulin 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:731515	D	RGD:9068941	20201002	RGD		associated with hepatitis C;mRNA:altered expression:liver (human	PMID:17393520|REF_RGD_ID:39456104
8722430	Nrg1	neuregulin 1	gene	DOID:8469	influenza		ISO	RGD:735609	D	RGD:9068941	20201001	RGD		neurotropic influenza A in Tap1-/- strain;mRNA (type III):decreased expression:prefrontal cortex (mouse)	PMID:19362585|REF_RGD_ID:39456087
8722430	Nrg1	neuregulin 1	gene	DOID:870	neuropathy		ISO	RGD:621341	D	RGD:9068941	20240425	RGD		mRNA, protein:decreased expression:dorsal root ganglion	PMID:24530887|REF_RGD_ID:405650402
8722430	Nrg1	neuregulin 1	gene	DOID:9000039	Spinal Cord Injuries	ameliorates	ISO	RGD:621341	D	RGD:9068941	20240502	RGD			PMID:20734425|REF_RGD_ID:405650600
8722430	Nrg1	neuregulin 1	gene	DOID:9000039	Spinal Cord Injuries	exacerbates	ISO	RGD:735609	D	RGD:9068941	20240404	RGD			PMID:26993800|REF_RGD_ID:11056189
8722430	Nrg1	neuregulin 1	gene	DOID:9000438	Subarachnoid Hemorrhage	treatment	ISO	RGD:731515	D	RGD:9068941	20220421	RGD			PMID:28756200|REF_RGD_ID:151893490
8722430	Nrg1	neuregulin 1	gene	DOID:9000469	Viral Myocarditis		ISO	RGD:735609	D	RGD:9068941	20201001	RGD		associated with Coxsackievirus Infections;protein:increased expression:heart (mouse)	PMID:31396490|REF_RGD_ID:39131284
8722430	Nrg1	neuregulin 1	gene	DOID:9000641	Pain		ISO	RGD:731515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20561508
8722430	Nrg1	neuregulin 1	gene	DOID:9001131	stress-related disorder		ISO	RGD:621341	D	RGD:9068941	20240222	RGD			PMID:23022220|REF_RGD_ID:39128254
8722430	Nrg1	neuregulin 1	gene	DOID:9001131	stress-related disorder		ISO	RGD:621341	D	RGD:9068941	20240425	RGD		protein:increased expression:myocardium	PMID:27133902|REF_RGD_ID:405650400
8722430	Nrg1	neuregulin 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8722430	Nrg1	neuregulin 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:621341	D	RGD:9068941	20200609	RGD		associated with Sciatic Neuropathy	PMID:22212401|REF_RGD_ID:10449019
8722430	Nrg1	neuregulin 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:621341	D	RGD:9068941	20240411	RGD		associated with interstitial cystitis;	PMID:30989724|REF_RGD_ID:405295490
8722430	Nrg1	neuregulin 1	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:731515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:29305325
8722430	Nrg1	neuregulin 1	gene	DOID:9002514	Neointima		ISO	RGD:621341	D	RGD:9068941	20200609	RGD			PMID:17438359|REF_RGD_ID:2289992
8722430	Nrg1	neuregulin 1	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:621341	D	RGD:9068941	20240404	RGD		mRNA:decreased expression:median nerve	PMID:28059646|REF_RGD_ID:405255649
8722430	Nrg1	neuregulin 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:731515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19617202
8722430	Nrg1	neuregulin 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:731515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28604730
8722430	Nrg1	neuregulin 1	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:621341	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:decreased expresssion:left ventricle myocardium	PMID:22285193|REF_RGD_ID:10449013
8722430	Nrg1	neuregulin 1	gene	DOID:9006945	Diabetic Cardiomyopathies	treatment	ISO	RGD:621341	D	RGD:9068941	20240420	RGD			PMID:32828943|REF_RGD_ID:405650202
8722430	Nrg1	neuregulin 1	gene	DOID:9007090	Experimental Seizures		ISO	RGD:621341	D	RGD:9068941	20241114	RGD			PMID:22158510|REF_RGD_ID:10449024
8722430	Nrg1	neuregulin 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:731515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19617202
8722430	Nrg1	neuregulin 1	gene	DOID:9007956	Febrile Seizures		ISO	RGD:731515	D	RGD:9068941	20201002	RGD		associated with influenza;mRNA:increased expression:blood (human)	PMID:16690933|REF_RGD_ID:39456106
8722430	Nrg1	neuregulin 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:731515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19617202
8722430	Nrg1	neuregulin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8722430	Nrg1	neuregulin 1	gene	DOID:9256	colorectal cancer		ISO	RGD:731515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8722430	Nrg1	neuregulin 1	gene	DOID:9505	cannabis abuse		ISO	RGD:731515	D	RGD:9068941	20240404	RGD		associated with schizophrenia;protein:increased expression:blood:	PMID:30799217|REF_RGD_ID:405112241
8722430	Nrg1	neuregulin 1	gene	DOID:9743	diabetic neuropathy	treatment	ISO	RGD:621341	D	RGD:9068941	20200609	RGD		associated with  Diabetes Mellitus, Experimental	PMID:24288572|REF_RGD_ID:10053667
8722505	Cacng4	calcium voltage-gated channel auxiliary subunit gamma 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8722505	Cacng4	calcium voltage-gated channel auxiliary subunit gamma 4	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:628804	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:sinoatrial node:	PMID:27096430|REF_RGD_ID:13524560
8722505	Cacng4	calcium voltage-gated channel auxiliary subunit gamma 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8722505	Cacng4	calcium voltage-gated channel auxiliary subunit gamma 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8722505	Cacng4	calcium voltage-gated channel auxiliary subunit gamma 4	gene	DOID:9408	acute myocardial infarction		ISO	RGD:735495	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:blood:	PMID:27746059|REF_RGD_ID:13524557
8722519	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8722519	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:0050749	peripheral T-cell lymphoma		ISO	RGD:1557447	D	RGD:9068941	20220825	MouseDO			
8722519	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8722519	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8722519	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:1115	sarcoma		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8722519	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8722519	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:1909	melanoma		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8722519	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8722519	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:3275	thymoma		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8722519	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8722519	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8722519	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8722519	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8722519	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:9004766	Familial Hemophagocytic Lymphohistiocytosis 6		ISO	RGD:1604740	D	RGD:7240710	20200930	OMIM			
8722519	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:9004766	Familial Hemophagocytic Lymphohistiocytosis 6		ISO	RGD:1604740	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 6	PMID:25741868
8722519	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8722519	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8722519	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1557447	D	RGD:9068941	20220825	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
8722519	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8722553	Tmcc1	transmembrane and coiled-coil domain family 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8722553	Tmcc1	transmembrane and coiled-coil domain family 1	gene	DOID:1115	sarcoma		ISO	RGD:1349742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8722553	Tmcc1	transmembrane and coiled-coil domain family 1	gene	DOID:1909	melanoma		ISO	RGD:1349742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8722553	Tmcc1	transmembrane and coiled-coil domain family 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8722553	Tmcc1	transmembrane and coiled-coil domain family 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349742	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8722553	Tmcc1	transmembrane and coiled-coil domain family 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8722553	Tmcc1	transmembrane and coiled-coil domain family 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1349742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8722553	Tmcc1	transmembrane and coiled-coil domain family 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8722571	Znf703	zinc finger protein 703	gene	DOID:1909	melanoma		ISO	RGD:1602208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8722571	Znf703	zinc finger protein 703	gene	DOID:2394	ovarian cancer		ISO	RGD:1602208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8722571	Znf703	zinc finger protein 703	gene	DOID:4362	cervical cancer		ISO	RGD:1602208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8722571	Znf703	zinc finger protein 703	gene	DOID:6039	uveal melanoma		ISO	RGD:1602208	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:0050486	exanthem		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skin rash	PMID:25741868
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:1909	melanoma		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323573	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:6195	conjunctivitis		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Conjunctivitis	PMID:25741868
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323573	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20977743
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:9000352	Vascular System Injuries		ISO	RGD:1311884	D	RGD:9068941	20200609	RGD			PMID:15217908|REF_RGD_ID:11049588
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:9001031	Retrognathia		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323573	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:9002514	Neointima		ISO	RGD:1323574	D	RGD:9068941	20200609	RGD		associated with Vascular System Injuries	PMID:23657573|REF_RGD_ID:11049552
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:9004657	Weight Gain		ISO	RGD:1323573	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1323573	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935819
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8722577	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8722625	Echdc2	enoyl-CoA hydratase domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8722625	Echdc2	enoyl-CoA hydratase domain containing 2	gene	DOID:0060058	lymphoma		ISO	RGD:1349844	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8722625	Echdc2	enoyl-CoA hydratase domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8722625	Echdc2	enoyl-CoA hydratase domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8722625	Echdc2	enoyl-CoA hydratase domain containing 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1349844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8722625	Echdc2	enoyl-CoA hydratase domain containing 2	gene	DOID:3070	high grade glioma		ISO	RGD:1349844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8722625	Echdc2	enoyl-CoA hydratase domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1349844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8722625	Echdc2	enoyl-CoA hydratase domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1349844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8722625	Echdc2	enoyl-CoA hydratase domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8722625	Echdc2	enoyl-CoA hydratase domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8722625	Echdc2	enoyl-CoA hydratase domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350466	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1350466	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350466	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:1115	sarcoma		ISO	RGD:1350466	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:1324	lung cancer		ISO	RGD:1350466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:1324	lung cancer		ISO	RGD:1350466	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:1826	epilepsy		ISO	RGD:1350466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:1909	melanoma		ISO	RGD:1350466	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1350466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:2843	long QT syndrome		ISO	RGD:1350466	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:3275	thymoma		ISO	RGD:1350466	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1350466	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350466	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1350466	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1350466	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350466	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350466	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350466	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1350466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350466	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1350466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:9008582	Developmental Disease		ISO	RGD:1350466	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8722648	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350466	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
8722766	Tcl1a	TCL1 family AKT coactivator A	gene	DOID:0080600	COVID-19		ISO	RGD:1318064	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:memory B cells (human)	PMID:32377375|REF_RGD_ID:32716422
8722766	Tcl1a	TCL1 family AKT coactivator A	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	severity	ISO	RGD:1318064	D	RGD:9068941	20200626	RGD			PMID:28302172|REF_RGD_ID:32716376
8722766	Tcl1a	TCL1 family AKT coactivator A	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1318064	D	RGD:9068941	20200609	RGD		mRNA:increased expression:peripheral blood lymphocyte (human)	PMID:10077617|REF_RGD_ID:1599360
8722766	Tcl1a	TCL1 family AKT coactivator A	gene	DOID:9004189	T-Cell Lymphoma 1A		ISO	RGD:1318064	D	RGD:7240710	20221123	OMIM			
8722772	Aldh1l2	aldehyde dehydrogenase 1 family member L2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8722772	Aldh1l2	aldehyde dehydrogenase 1 family member L2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1551620	D	RGD:9068941	20220825	MouseDO		OMIM:613282 | OMIM:613387	
8722772	Aldh1l2	aldehyde dehydrogenase 1 family member L2	gene	DOID:0080600	COVID-19		ISO	RGD:1345617	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8722772	Aldh1l2	aldehyde dehydrogenase 1 family member L2	gene	DOID:10534	stomach cancer		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8722772	Aldh1l2	aldehyde dehydrogenase 1 family member L2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8722772	Aldh1l2	aldehyde dehydrogenase 1 family member L2	gene	DOID:1324	lung cancer		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8722772	Aldh1l2	aldehyde dehydrogenase 1 family member L2	gene	DOID:1909	melanoma		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8722772	Aldh1l2	aldehyde dehydrogenase 1 family member L2	gene	DOID:3070	high grade glioma		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8722772	Aldh1l2	aldehyde dehydrogenase 1 family member L2	gene	DOID:5041	esophageal cancer		ISO	RGD:1345617	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8722772	Aldh1l2	aldehyde dehydrogenase 1 family member L2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8722772	Aldh1l2	aldehyde dehydrogenase 1 family member L2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8722772	Aldh1l2	aldehyde dehydrogenase 1 family member L2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8722772	Aldh1l2	aldehyde dehydrogenase 1 family member L2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1345617	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8722772	Aldh1l2	aldehyde dehydrogenase 1 family member L2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1345617	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:38193334
8722772	Aldh1l2	aldehyde dehydrogenase 1 family member L2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8722772	Aldh1l2	aldehyde dehydrogenase 1 family member L2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1345617	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8722772	Aldh1l2	aldehyde dehydrogenase 1 family member L2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8722772	Aldh1l2	aldehyde dehydrogenase 1 family member L2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8722799	Hagh	hydroxyacylglutathione hydrolase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8722799	Hagh	hydroxyacylglutathione hydrolase	gene	DOID:10534	stomach cancer		ISO	RGD:736814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8722799	Hagh	hydroxyacylglutathione hydrolase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8722799	Hagh	hydroxyacylglutathione hydrolase	gene	DOID:1909	melanoma		ISO	RGD:736814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8722799	Hagh	hydroxyacylglutathione hydrolase	gene	DOID:4362	cervical cancer		ISO	RGD:736814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8722799	Hagh	hydroxyacylglutathione hydrolase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8722799	Hagh	hydroxyacylglutathione hydrolase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8722799	Hagh	hydroxyacylglutathione hydrolase	gene	DOID:9000559	Glyoxalase II Deficiency		ISO	RGD:736814	D	RGD:7240710	20210317	OMIM			
8722799	Hagh	hydroxyacylglutathione hydrolase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736814	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8722799	Hagh	hydroxyacylglutathione hydrolase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736814	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8722799	Hagh	hydroxyacylglutathione hydrolase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8722799	Hagh	hydroxyacylglutathione hydrolase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8722816	Shc3	SHC adaptor protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8722816	Shc3	SHC adaptor protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:737159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8722816	Shc3	SHC adaptor protein 3	gene	DOID:1115	sarcoma		ISO	RGD:737159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8722816	Shc3	SHC adaptor protein 3	gene	DOID:3070	high grade glioma		ISO	RGD:737159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8722816	Shc3	SHC adaptor protein 3	gene	DOID:3275	thymoma		ISO	RGD:737159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8722816	Shc3	SHC adaptor protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8722816	Shc3	SHC adaptor protein 3	gene	DOID:9005834	Ependymomas		ISO	RGD:737159	D	RGD:9068941	20200609	RGD		DNA:amplification:brain:	PMID:19748727|REF_RGD_ID:13782069
8722816	Shc3	SHC adaptor protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8722832	Eloa	elongin A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8722832	Eloa	elongin A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8722832	Eloa	elongin A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8722832	Eloa	elongin A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8722832	Eloa	elongin A	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:736026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8722832	Eloa	elongin A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8722832	Eloa	elongin A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8722860	Atp5mj	ATP synthase membrane subunit j	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8722860	Atp5mj	ATP synthase membrane subunit j	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8722860	Atp5mj	ATP synthase membrane subunit j	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8722860	Atp5mj	ATP synthase membrane subunit j	gene	DOID:5041	esophageal cancer		ISO	RGD:1352128	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8722860	Atp5mj	ATP synthase membrane subunit j	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8722860	Atp5mj	ATP synthase membrane subunit j	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8722860	Atp5mj	ATP synthase membrane subunit j	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8722860	Atp5mj	ATP synthase membrane subunit j	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8722860	Atp5mj	ATP synthase membrane subunit j	gene	DOID:9256	colorectal cancer		ISO	RGD:1352128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8722909	Arpc3	actin related protein 2/3 complex subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8722909	Arpc3	actin related protein 2/3 complex subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1323728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8722909	Arpc3	actin related protein 2/3 complex subunit 3	gene	DOID:14330	Parkinson's disease	treatment	ISO	RGD:1311985	D	RGD:9068941	20200609	RGD			PMID:20713051|REF_RGD_ID:11049454
8722909	Arpc3	actin related protein 2/3 complex subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1323728	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8722909	Arpc3	actin related protein 2/3 complex subunit 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8722909	Arpc3	actin related protein 2/3 complex subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8722909	Arpc3	actin related protein 2/3 complex subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8722909	Arpc3	actin related protein 2/3 complex subunit 3	gene	DOID:9351	diabetes mellitus		ISO	RGD:1323728	D	RGD:9068941	20200609	RGD		associated with Obesity, Morbid;mRNA:decreased expression:omentum, adipose tissue (human)	PMID:26504501|REF_RGD_ID:11049459
8722938	Cntn4	contactin 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8722938	Cntn4	contactin 4	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1349263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
8722938	Cntn4	contactin 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1349263	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:27569545
8722938	Cntn4	contactin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1349263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8722938	Cntn4	contactin 4	gene	DOID:1059	intellectual disability		ISO	RGD:1349263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8722938	Cntn4	contactin 4	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1349263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:18349135|PMID:18551756|PMID:21681106
8722938	Cntn4	contactin 4	gene	DOID:12849	autistic disorder		ISO	RGD:1349263	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:18349135
8722938	Cntn4	contactin 4	gene	DOID:1324	lung cancer		ISO	RGD:1349263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8722938	Cntn4	contactin 4	gene	DOID:1826	epilepsy		ISO	RGD:1349263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8722938	Cntn4	contactin 4	gene	DOID:1909	melanoma		ISO	RGD:1349263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8722938	Cntn4	contactin 4	gene	DOID:3275	thymoma		ISO	RGD:1349263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8722938	Cntn4	contactin 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8722938	Cntn4	contactin 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8722938	Cntn4	contactin 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349263	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma	PMID:28595731
8722938	Cntn4	contactin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8722938	Cntn4	contactin 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8722938	Cntn4	contactin 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1349263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8722938	Cntn4	contactin 4	gene	DOID:9006257	Growth Disorders		ISO	RGD:1349263	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:15106122
8722938	Cntn4	contactin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8722938	Cntn4	contactin 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8722938	Cntn4	contactin 4	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1349263	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:15106122
8722973	Plekhg7	pleckstrin homology and RhoGEF domain containing G7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8722973	Plekhg7	pleckstrin homology and RhoGEF domain containing G7	gene	DOID:10534	stomach cancer		ISO	RGD:1604901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8722973	Plekhg7	pleckstrin homology and RhoGEF domain containing G7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8722973	Plekhg7	pleckstrin homology and RhoGEF domain containing G7	gene	DOID:1115	sarcoma		ISO	RGD:1604901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8722973	Plekhg7	pleckstrin homology and RhoGEF domain containing G7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8722973	Plekhg7	pleckstrin homology and RhoGEF domain containing G7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8722973	Plekhg7	pleckstrin homology and RhoGEF domain containing G7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723012	Stk32c	serine/threonine kinase 32C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8723012	Stk32c	serine/threonine kinase 32C	gene	DOID:1115	sarcoma		ISO	RGD:1314150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8723012	Stk32c	serine/threonine kinase 32C	gene	DOID:1324	lung cancer		ISO	RGD:1314150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8723012	Stk32c	serine/threonine kinase 32C	gene	DOID:3275	thymoma		ISO	RGD:1314150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8723012	Stk32c	serine/threonine kinase 32C	gene	DOID:5041	esophageal cancer		ISO	RGD:1314150	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8723012	Stk32c	serine/threonine kinase 32C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723012	Stk32c	serine/threonine kinase 32C	gene	DOID:6039	uveal melanoma		ISO	RGD:1314150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8723012	Stk32c	serine/threonine kinase 32C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8723012	Stk32c	serine/threonine kinase 32C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8723060	Rtp3	receptor transporter protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17693185
8723060	Rtp3	receptor transporter protein 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1353966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8723060	Rtp3	receptor transporter protein 3	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1353966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17693185
8723078	Tyw3	tRNA-yW synthesizing protein 3 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8723078	Tyw3	tRNA-yW synthesizing protein 3 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1603913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8723078	Tyw3	tRNA-yW synthesizing protein 3 homolog	gene	DOID:2394	ovarian cancer		ISO	RGD:1603913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8723078	Tyw3	tRNA-yW synthesizing protein 3 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8723112	Dse	dermatan sulfate epimerase	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	
8723112	Dse	dermatan sulfate epimerase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8723112	Dse	dermatan sulfate epimerase	gene	DOID:0080737	Ehlers-Danlos syndrome musculocontractural type 2		ISO	RGD:1312897	D	RGD:7240710	20180130	OMIM			
8723112	Dse	dermatan sulfate epimerase	gene	DOID:0080737	Ehlers-Danlos syndrome musculocontractural type 2		ISO	RGD:1312897	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DSE-related condition | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28229453|PMID:28492532|PMID:32130795|PMID:9536098
8723112	Dse	dermatan sulfate epimerase	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:1312897	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:25741868|PMID:28492532
8723112	Dse	dermatan sulfate epimerase	gene	DOID:1909	melanoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8723112	Dse	dermatan sulfate epimerase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8723112	Dse	dermatan sulfate epimerase	gene	DOID:3275	thymoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8723112	Dse	dermatan sulfate epimerase	gene	DOID:4362	cervical cancer		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8723112	Dse	dermatan sulfate epimerase	gene	DOID:5041	esophageal cancer		ISO	RGD:1312897	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8723112	Dse	dermatan sulfate epimerase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8723112	Dse	dermatan sulfate epimerase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8723112	Dse	dermatan sulfate epimerase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8723112	Dse	dermatan sulfate epimerase	gene	DOID:630	genetic disease		ISO	RGD:1312897	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8723112	Dse	dermatan sulfate epimerase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8723112	Dse	dermatan sulfate epimerase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
8723112	Dse	dermatan sulfate epimerase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8723112	Dse	dermatan sulfate epimerase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8723112	Dse	dermatan sulfate epimerase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus	
8723125	Zbtb6	zinc finger and BTB domain containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314374	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8723125	Zbtb6	zinc finger and BTB domain containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723125	Zbtb6	zinc finger and BTB domain containing 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8723135	Garem2	GRB2 associated regulator of MAPK1 subtype 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8723135	Garem2	GRB2 associated regulator of MAPK1 subtype 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723135	Garem2	GRB2 associated regulator of MAPK1 subtype 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8723146	Vash1	vasohibin 1	gene	DOID:10762	portal hypertension	disease_progression	ISO	RGD:1564082	D	RGD:9068941	20200609	RGD			PMID:24390792|REF_RGD_ID:15003198
8723146	Vash1	vasohibin 1	gene	DOID:10762	portal hypertension	treatment	ISO	RGD:1352548	D	RGD:9068941	20200609	RGD			PMID:24390792|REF_RGD_ID:15003198
8723146	Vash1	vasohibin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8723146	Vash1	vasohibin 1	gene	DOID:1324	lung cancer		ISO	RGD:1352548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8723146	Vash1	vasohibin 1	gene	DOID:3275	thymoma		ISO	RGD:1352548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8723146	Vash1	vasohibin 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1352548	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic; protein:increased expression:liver	PMID:24390792|REF_RGD_ID:15003198
8723146	Vash1	vasohibin 1	gene	DOID:5082	liver cirrhosis	treatment	ISO	RGD:1352548	D	RGD:9068941	20200609	RGD			PMID:24390792|REF_RGD_ID:15003198
8723146	Vash1	vasohibin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723146	Vash1	vasohibin 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1352548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8723146	Vash1	vasohibin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8723191	Prr5l	proline rich 5 like	gene	DOID:10534	stomach cancer		ISO	RGD:1605618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8723191	Prr5l	proline rich 5 like	gene	DOID:1324	lung cancer		ISO	RGD:1605618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8723191	Prr5l	proline rich 5 like	gene	DOID:3275	thymoma		ISO	RGD:1605618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8723191	Prr5l	proline rich 5 like	gene	DOID:4362	cervical cancer		ISO	RGD:1605618	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8723191	Prr5l	proline rich 5 like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8723191	Prr5l	proline rich 5 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1605618	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8723191	Prr5l	proline rich 5 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723234	Tmem183a	transmembrane protein 183A	gene	DOID:10283	prostate cancer		ISO	RGD:1320480	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8723234	Tmem183a	transmembrane protein 183A	gene	DOID:10283	prostate cancer		ISO	RGD:1320480	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8723234	Tmem183a	transmembrane protein 183A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8723254	Chrdl1	chordin like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8723254	Chrdl1	chordin like 1	gene	DOID:0060305	megalocornea		ISO	RGD:1349204	D	RGD:7240710	20241120	OMIM			
8723254	Chrdl1	chordin like 1	gene	DOID:0060305	megalocornea		ISO	RGD:1349204	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: CHRDL1-related condition | ClinVar Annotator: match by term: Isolated congenital megalocornea | ClinVar Annotator: match by term: MEGALOCORNEA | ClinVar Annotator: match by term: Megalocornea	PMID:22284829|PMID:25093588|PMID:25712132|PMID:25741868|PMID:26938784|PMID:28492532
8723254	Chrdl1	chordin like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8723254	Chrdl1	chordin like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723254	Chrdl1	chordin like 1	gene	DOID:630	genetic disease		ISO	RGD:1349204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8723254	Chrdl1	chordin like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8723254	Chrdl1	chordin like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:0050902	medulloblastoma		ISO	RGD:1316776	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:0050902	medulloblastoma		ISO	RGD:1316776	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain (human)	PMID:19270706|REF_RGD_ID:9587481
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:0060001	withdrawal disorder	susceptibility	ISO	RGD:1316776	D	RGD:9068941	20200609	RGD		DNA:snps:multiple (human)	PMID:22072270|REF_RGD_ID:9587485
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:0060221	Maffucci syndrome		ISO	RGD:1316776	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Maffucci syndrome	PMID:25741868
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:1316776	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29438700
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:10283	prostate cancer	severity	ISO	RGD:1316776	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate gland (human)	PMID:20127736|REF_RGD_ID:9587486
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:10534	stomach cancer		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:11934	head and neck cancer	susceptibility	ISO	RGD:1316776	D	RGD:9068941	20200609	RGD		DNA:snps:cds, intron:p.N396D (rs2296067), IVS10G>T (rs818912) (human)	PMID:19339270|REF_RGD_ID:9587748
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:12849	autistic disorder		ISO	RGD:1316776	D	RGD:9068941	20200609	RGD		DNA:snp:intron:IVS8-3292G>A (rs1340513) (human)	PMID:20410850|REF_RGD_ID:9587484
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:1324	lung cancer		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:1612	breast cancer	severity	ISO	RGD:1316776	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.D396N (rs2296067) (human)	PMID:24952432|REF_RGD_ID:9587745
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:1909	melanoma		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:3275	thymoma		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:3748	esophagus squamous cell carcinoma	severity	ISO	RGD:1316776	D	RGD:9068941	20200609	RGD		protein:increased expression:esophageal epithelium, nucleus (human)	PMID:24224128|REF_RGD_ID:9587746
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:3748	esophagus squamous cell carcinoma	susceptibility	ISO	RGD:1316776	D	RGD:9068941	20200609	RGD		DNA:snp:intron:IVS8-3292G>A (rs1340513) (human)	PMID:15805246|REF_RGD_ID:9587752
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:4362	cervical cancer		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1316776	D	RGD:9068941	20200609	RGD		DNA:deletion:cds (human)	PMID:22483639|REF_RGD_ID:9587741
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:4624	Ollier disease		ISO	RGD:1316776	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Enchondromatosis	PMID:25741868
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:5041	esophageal cancer		ISO	RGD:1316776	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:5517	stomach carcinoma	severity	ISO	RGD:1316776	D	RGD:9068941	20200609	RGD		protein:increased expression:stomach (human)	PMID:24418035|REF_RGD_ID:9588260
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1316776	D	RGD:9068941	20260205	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:9004118	Experimental Melanoma		ISO	RGD:1316776	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29438700
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316776	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:23129632|REF_RGD_ID:9587482
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:9008939	Breast Neoplasms	severity	ISO	RGD:1316776	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast (human)	PMID:19784073|REF_RGD_ID:9587479
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8723303	Kdm4c	lysine demethylase 4C	gene	DOID:986	alopecia areata		ISO	RGD:1316776	D	RGD:9068941	20200609	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:21936853|REF_RGD_ID:9587460
8723332	Tfrc	transferrin receptor	gene	DOID:0050642	hypochromic microcytic anemia		ISO	RGD:70503	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression: erythrocyte:	PMID:18552213|REF_RGD_ID:11062089
8723332	Tfrc	transferrin receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8723332	Tfrc	transferrin receptor	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:733275	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8723332	Tfrc	transferrin receptor	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:733275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16904380
8723332	Tfrc	transferrin receptor	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:70488	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:23805238|REF_RGD_ID:11541090
8723332	Tfrc	transferrin receptor	gene	DOID:0111948	immunodeficiency 46		ISO	RGD:733275	D	RGD:7240710	20180130	OMIM			
8723332	Tfrc	transferrin receptor	gene	DOID:0111948	immunodeficiency 46		ISO	RGD:733275	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 46 | ClinVar Annotator: match by term: TFRC-related combined immunodeficiency | ClinVar Annotator: match by term: TFRC-related condition	PMID:17576681|PMID:25741868|PMID:26642240|PMID:28492532|PMID:32851577|PMID:9536098
8723332	Tfrc	transferrin receptor	gene	DOID:0111962	combined immunodeficiency		ISO	RGD:733275	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency	PMID:25741868|PMID:26642240|PMID:28492532|PMID:32851577
8723332	Tfrc	transferrin receptor	gene	DOID:10283	prostate cancer		ISO	RGD:733275	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15514585|REF_RGD_ID:2292017
8723332	Tfrc	transferrin receptor	gene	DOID:10608	celiac disease		ISO	RGD:70503	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:duodenum:	PMID:15054143|REF_RGD_ID:11062102
8723332	Tfrc	transferrin receptor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8723332	Tfrc	transferrin receptor	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:733275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8723332	Tfrc	transferrin receptor	gene	DOID:11758	iron deficiency anemia		ISO	RGD:70503	D	RGD:9068941	20200609	RGD			PMID:26303393|REF_RGD_ID:11062104
8723332	Tfrc	transferrin receptor	gene	DOID:11758	iron deficiency anemia		ISO	RGD:733275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16733738|PMID:17162259|PMID:17163184
8723332	Tfrc	transferrin receptor	gene	DOID:11758	iron deficiency anemia		ISO	RGD:733275	D	RGD:9068941	20200609	RGD		mRNA:increased expression:placenta:	PMID:17877204|REF_RGD_ID:11062105
8723332	Tfrc	transferrin receptor	gene	DOID:11758	iron deficiency anemia		ISO	RGD:733275	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:15104997|REF_RGD_ID:11062096
8723332	Tfrc	transferrin receptor	gene	DOID:12241	beta thalassemia		ISO	RGD:70503	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver:	PMID:16755567|REF_RGD_ID:11062138
8723332	Tfrc	transferrin receptor	gene	DOID:12241	beta thalassemia		ISO	RGD:733275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16755567
8723332	Tfrc	transferrin receptor	gene	DOID:1612	breast cancer		ISO	RGD:733275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
8723332	Tfrc	transferrin receptor	gene	DOID:1612	breast cancer	severity	ISO	RGD:733275	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:11299801|REF_RGD_ID:2292021
8723332	Tfrc	transferrin receptor	gene	DOID:1724	duodenal ulcer		ISO	RGD:70488	D	RGD:9068941	20200609	RGD		protein:increased expression:duodenal mucosa	PMID:19342511|REF_RGD_ID:11541091
8723332	Tfrc	transferrin receptor	gene	DOID:2351	iron metabolism disease		ISO	RGD:733275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17163184|PMID:17254562
8723332	Tfrc	transferrin receptor	gene	DOID:2394	ovarian cancer		ISO	RGD:733275	D	RGD:9068941	20200609	RGD			PMID:3493065|REF_RGD_ID:2298574
8723332	Tfrc	transferrin receptor	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:733275	D	RGD:9068941	20200609	RGD			PMID:9373912|REF_RGD_ID:2292023
8723332	Tfrc	transferrin receptor	gene	DOID:3070	high grade glioma		ISO	RGD:733275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16904380
8723332	Tfrc	transferrin receptor	gene	DOID:3459	breast carcinoma		ISO	RGD:733275	D	RGD:9068941	20200609	RGD			PMID:11497259|REF_RGD_ID:2292020
8723332	Tfrc	transferrin receptor	gene	DOID:3702	cervical adenocarcinoma		ISO	RGD:733275	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:9739406|REF_RGD_ID:2292022
8723332	Tfrc	transferrin receptor	gene	DOID:374	nutrition disease		ISO	RGD:70488	D	RGD:9068941	20200609	RGD		protein:decreased expression:T cell	PMID:18373698|REF_RGD_ID:2292028
8723332	Tfrc	transferrin receptor	gene	DOID:3944	Arenaviridae infectious disease		ISO	RGD:733275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17287727
8723332	Tfrc	transferrin receptor	gene	DOID:4258	Weissenbacher-Zweymuller syndrome		ISO	RGD:70503	D	RGD:9068941	20221006	MouseDO		OMIM:261800	
8723332	Tfrc	transferrin receptor	gene	DOID:4450	renal cell carcinoma		ISO	RGD:733275	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney, T cell	PMID:8050820|REF_RGD_ID:2292025
8723332	Tfrc	transferrin receptor	gene	DOID:4450	renal cell carcinoma		ISO	RGD:733275	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney, T cell	PMID:12394762|REF_RGD_ID:2292024
8723332	Tfrc	transferrin receptor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8723332	Tfrc	transferrin receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:733275	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8723332	Tfrc	transferrin receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723332	Tfrc	transferrin receptor	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:733275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26642240
8723332	Tfrc	transferrin receptor	gene	DOID:630	genetic disease		ISO	RGD:733275	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8723332	Tfrc	transferrin receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70488	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:16953838|REF_RGD_ID:2292036
8723332	Tfrc	transferrin receptor	gene	DOID:767	muscular atrophy		ISO	RGD:70488	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:gastrocnemius	PMID:18395385|REF_RGD_ID:2292027
8723332	Tfrc	transferrin receptor	gene	DOID:8955	sideroblastic anemia		ISO	RGD:70503	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:erythroblast:	PMID:21326867|REF_RGD_ID:11062136
8723332	Tfrc	transferrin receptor	gene	DOID:9000242	Lymphoma, AIDS-Related	treatment	ISO	RGD:733275	D	RGD:9068941	20200609	RGD			PMID:26325374|REF_RGD_ID:11062098
8723332	Tfrc	transferrin receptor	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:733275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16904380
8723332	Tfrc	transferrin receptor	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:733275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8723332	Tfrc	transferrin receptor	gene	DOID:9004240	Phyllodes Tumor		ISO	RGD:733275	D	RGD:9068941	20200609	RGD		protein:increased expression:myoepithelial cell	PMID:2174150|REF_RGD_ID:2292026
8723332	Tfrc	transferrin receptor	gene	DOID:9004713	Acute-Phase Reaction		ISO	RGD:70488	D	RGD:9068941	20200609	RGD			PMID:17417667|REF_RGD_ID:1601529
8723332	Tfrc	transferrin receptor	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:733275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16904380
8723332	Tfrc	transferrin receptor	gene	DOID:9005372	Inflammation		ISO	RGD:733275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16603144
8723332	Tfrc	transferrin receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8723332	Tfrc	transferrin receptor	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:733275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8723332	Tfrc	transferrin receptor	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:733275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21785164
8723332	Tfrc	transferrin receptor	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:733275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18549825
8723332	Tfrc	transferrin receptor	gene	DOID:9007970	Chronic Cerebral Hypoperfusion		ISO	RGD:70488	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus	PMID:22639386|REF_RGD_ID:11541085
8723332	Tfrc	transferrin receptor	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:733275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16733738|PMID:17163184
8723332	Tfrc	transferrin receptor	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:733275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16111806
8723332	Tfrc	transferrin receptor	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16904380|PMID:19238537
8723332	Tfrc	transferrin receptor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8723332	Tfrc	transferrin receptor	gene	DOID:9538	multiple myeloma	treatment	ISO	RGD:733275	D	RGD:9068941	20200609	RGD			PMID:21654517|REF_RGD_ID:11062101
8723332	Tfrc	transferrin receptor	gene	DOID:9970	obesity		ISO	RGD:733275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17062801|PMID:20882379
8723366	Znf451	zinc finger protein 451	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8723366	Znf451	zinc finger protein 451	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8723366	Znf451	zinc finger protein 451	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8723404	Xpnpep2	X-prolyl aminopeptidase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8723404	Xpnpep2	X-prolyl aminopeptidase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8723404	Xpnpep2	X-prolyl aminopeptidase 2	gene	DOID:0080941	acquired angioedema		ISO	RGD:734376	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Susceptibility to angioedema induced by ACE inhibitors	PMID:25741868
8723404	Xpnpep2	X-prolyl aminopeptidase 2	gene	DOID:0080941	acquired angioedema	susceptibility	ISO	RGD:734376	D	RGD:7240710	20190502	OMIM			
8723404	Xpnpep2	X-prolyl aminopeptidase 2	gene	DOID:1115	sarcoma		ISO	RGD:734376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8723404	Xpnpep2	X-prolyl aminopeptidase 2	gene	DOID:1324	lung cancer		ISO	RGD:734376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8723404	Xpnpep2	X-prolyl aminopeptidase 2	gene	DOID:1558	angioedema		ISO	RGD:734376	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16175507
8723404	Xpnpep2	X-prolyl aminopeptidase 2	gene	DOID:1909	melanoma		ISO	RGD:734376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8723404	Xpnpep2	X-prolyl aminopeptidase 2	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:734376	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
8723404	Xpnpep2	X-prolyl aminopeptidase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:734376	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8723404	Xpnpep2	X-prolyl aminopeptidase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8723404	Xpnpep2	X-prolyl aminopeptidase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8723404	Xpnpep2	X-prolyl aminopeptidase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8723429	Hltf	helicase like transcription factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8723429	Hltf	helicase like transcription factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319146	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8723429	Hltf	helicase like transcription factor	gene	DOID:1115	sarcoma		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8723429	Hltf	helicase like transcription factor	gene	DOID:1324	lung cancer		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8723429	Hltf	helicase like transcription factor	gene	DOID:1909	melanoma		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8723429	Hltf	helicase like transcription factor	gene	DOID:4362	cervical cancer		ISO	RGD:1319146	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8723429	Hltf	helicase like transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723429	Hltf	helicase like transcription factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8723429	Hltf	helicase like transcription factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8723429	Hltf	helicase like transcription factor	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1319146	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762066
8723429	Hltf	helicase like transcription factor	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8723429	Hltf	helicase like transcription factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8723429	Hltf	helicase like transcription factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8723474	Gdf10	growth differentiation factor 10	gene	DOID:10283	prostate cancer		ISO	RGD:1342570	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8723474	Gdf10	growth differentiation factor 10	gene	DOID:10283	prostate cancer		ISO	RGD:1342570	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8723474	Gdf10	growth differentiation factor 10	gene	DOID:1909	melanoma		ISO	RGD:1342570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8723474	Gdf10	growth differentiation factor 10	gene	DOID:9003566	Mesothelioma		ISO	RGD:1342570	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18949431
8723474	Gdf10	growth differentiation factor 10	gene	DOID:9006474	Arterial Occlusive Diseases		ISO	RGD:1342570	D	RGD:9068941	20230831	RGD		mRNA:decreased expression:leg blood vessel (human)	PMID:22721676|REF_RGD_ID:401793723
8723474	Gdf10	growth differentiation factor 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8723474	Gdf10	growth differentiation factor 10	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1342570	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23180569
8723486	Ppp2r5a	protein phosphatase 2 regulatory subunit B'alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8723486	Ppp2r5a	protein phosphatase 2 regulatory subunit B'alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8723486	Ppp2r5a	protein phosphatase 2 regulatory subunit B'alpha	gene	DOID:1115	sarcoma		ISO	RGD:1317550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8723486	Ppp2r5a	protein phosphatase 2 regulatory subunit B'alpha	gene	DOID:1324	lung cancer		ISO	RGD:1317550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8723486	Ppp2r5a	protein phosphatase 2 regulatory subunit B'alpha	gene	DOID:1909	melanoma		ISO	RGD:1317550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8723486	Ppp2r5a	protein phosphatase 2 regulatory subunit B'alpha	gene	DOID:3275	thymoma		ISO	RGD:1317550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8723486	Ppp2r5a	protein phosphatase 2 regulatory subunit B'alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1317550	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8723486	Ppp2r5a	protein phosphatase 2 regulatory subunit B'alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723486	Ppp2r5a	protein phosphatase 2 regulatory subunit B'alpha	gene	DOID:9002884	Emphysema		ISO	RGD:1317550	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22223484
8723486	Ppp2r5a	protein phosphatase 2 regulatory subunit B'alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8723486	Ppp2r5a	protein phosphatase 2 regulatory subunit B'alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8723520	Plpp4	phospholipid phosphatase 4	gene	DOID:1324	lung cancer		ISO	RGD:1351368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8723520	Plpp4	phospholipid phosphatase 4	gene	DOID:1612	breast cancer		ISO	RGD:1351368	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:16818692|REF_RGD_ID:2314524
8723520	Plpp4	phospholipid phosphatase 4	gene	DOID:1909	melanoma		ISO	RGD:1351368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8723520	Plpp4	phospholipid phosphatase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8723537	Sh3bgrl3	SH3 domain binding glutamate rich protein like 3	gene	DOID:1324	lung cancer		ISO	RGD:1317706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8723537	Sh3bgrl3	SH3 domain binding glutamate rich protein like 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317706	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8723546	Tspan16	tetraspanin 16	gene	DOID:1115	sarcoma		ISO	RGD:1349307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8723562	Wdr83os	WD repeat domain 83 opposite strand	gene	DOID:9009269	NEURODEVELOPMENTAL DISORDER WITH VARIABLE FAMILIAL HYPERCHOLANEMIA		ISO	RGD:1605383	D	RGD:7240710	20250108	OMIM			
8723570	Ccl21	C-C motif chemokine ligand 21	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1323745	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:17717200|REF_RGD_ID:5130910
8723570	Ccl21	C-C motif chemokine ligand 21	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1323745	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18794853|PMID:20453842|PMID:23143596
8723570	Ccl21	C-C motif chemokine ligand 21	gene	DOID:9006262	Cytomegalovirus Infections		ISO	RGD:1323745	D	RGD:9068941	20200820	RGD		protein:increased expression:plasma (human)	PMID:23593305|REF_RGD_ID:38508895
8723581	Sem1	SEM1 26S proteasome subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8723581	Sem1	SEM1 26S proteasome subunit	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1349756	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:18922899
8723581	Sem1	SEM1 26S proteasome subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1349756	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8723581	Sem1	SEM1 26S proteasome subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723601	Rpl35	ribosomal protein L35	gene	DOID:0111886	Diamond-Blackfan anemia 19		ISO	RGD:1353068	D	RGD:7240710	20190315	OMIM			
8723601	Rpl35	ribosomal protein L35	gene	DOID:0111886	Diamond-Blackfan anemia 19		ISO	RGD:1353068	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia 19 | ClinVar Annotator: match by term: RPL35-related condition	PMID:28492532
8723601	Rpl35	ribosomal protein L35	gene	DOID:10534	stomach cancer		ISO	RGD:1353068	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8723601	Rpl35	ribosomal protein L35	gene	DOID:3070	high grade glioma		ISO	RGD:1353068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8723601	Rpl35	ribosomal protein L35	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8723601	Rpl35	ribosomal protein L35	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8723613	C2cd5	C2 calcium dependent domain containing 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8723613	C2cd5	C2 calcium dependent domain containing 5	gene	DOID:1324	lung cancer		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8723613	C2cd5	C2 calcium dependent domain containing 5	gene	DOID:1909	melanoma		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8723613	C2cd5	C2 calcium dependent domain containing 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8723613	C2cd5	C2 calcium dependent domain containing 5	gene	DOID:3275	thymoma		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8723613	C2cd5	C2 calcium dependent domain containing 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8723613	C2cd5	C2 calcium dependent domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8723613	C2cd5	C2 calcium dependent domain containing 5	gene	DOID:5041	esophageal cancer		ISO	RGD:736134	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8723613	C2cd5	C2 calcium dependent domain containing 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8723613	C2cd5	C2 calcium dependent domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723613	C2cd5	C2 calcium dependent domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8723613	C2cd5	C2 calcium dependent domain containing 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8723613	C2cd5	C2 calcium dependent domain containing 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8723653	Eif5a2	eukaryotic translation initiation factor 5A2	gene	DOID:4362	cervical cancer		ISO	RGD:1314674	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8723653	Eif5a2	eukaryotic translation initiation factor 5A2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314674	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8723653	Eif5a2	eukaryotic translation initiation factor 5A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723653	Eif5a2	eukaryotic translation initiation factor 5A2	gene	DOID:9002644	Premature Aging		ISO	RGD:1314674	D	RGD:9068941	20200609	RGD			PMID:21612665|REF_RGD_ID:10395359
8723653	Eif5a2	eukaryotic translation initiation factor 5A2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8723676	Slc2a5	solute carrier family 2 member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8723676	Slc2a5	solute carrier family 2 member 5	gene	DOID:1115	sarcoma		ISO	RGD:68456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8723676	Slc2a5	solute carrier family 2 member 5	gene	DOID:1909	melanoma		ISO	RGD:68456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8723676	Slc2a5	solute carrier family 2 member 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:68456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8723676	Slc2a5	solute carrier family 2 member 5	gene	DOID:2843	long QT syndrome		ISO	RGD:68456	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8723676	Slc2a5	solute carrier family 2 member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723676	Slc2a5	solute carrier family 2 member 5	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:68456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8723676	Slc2a5	solute carrier family 2 member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8723676	Slc2a5	solute carrier family 2 member 5	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:68456	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15449313
8723676	Slc2a5	solute carrier family 2 member 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8723692	Pus1	pseudouridine synthase 1	gene	DOID:0080099	myopathy, lactic acidosis, and sideroblastic anemia		ISO	RGD:1323553	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia	PMID:15108122|PMID:15772074|PMID:15971356|PMID:17056637|PMID:18648068|PMID:19731322|PMID:25058219|PMID:25741868|PMID:26556812|PMID:28492532|PMID:38450158|PMID:39148116|PMID:40438980
8723692	Pus1	pseudouridine synthase 1	gene	DOID:0111185	myopathy, lactic acidosis, and sideroblastic anemia 1		ISO	RGD:1323553	D	RGD:7240710	20190320	OMIM			
8723692	Pus1	pseudouridine synthase 1	gene	DOID:0111185	myopathy, lactic acidosis, and sideroblastic anemia 1		ISO	RGD:1323553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 | ClinVar Annotator: match by term: PUS1-related condition	PMID:17056637|PMID:17576681|PMID:19731322|PMID:23707380|PMID:25058219|PMID:25227147|PMID:25741868|PMID:26556812|PMID:27374853|PMID:28492532|PMID:9536098
8723692	Pus1	pseudouridine synthase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8723692	Pus1	pseudouridine synthase 1	gene	DOID:1115	sarcoma		ISO	RGD:1323553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8723692	Pus1	pseudouridine synthase 1	gene	DOID:3275	thymoma		ISO	RGD:1323553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8723692	Pus1	pseudouridine synthase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8723692	Pus1	pseudouridine synthase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8723692	Pus1	pseudouridine synthase 1	gene	DOID:630	genetic disease		ISO	RGD:1323553	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8723692	Pus1	pseudouridine synthase 1	gene	DOID:699	mitochondrial myopathy		ISO	RGD:1323553	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Mitochondrial Myopathies	PMID:25741868|PMID:28492532
8723692	Pus1	pseudouridine synthase 1	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1323553	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868|PMID:28492532
8723692	Pus1	pseudouridine synthase 1	gene	DOID:8955	sideroblastic anemia		ISO	RGD:1323553	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Sideroblastic anemia | ClinVar Annotator: match by term: sideroblastic anemia	PMID:25741868|PMID:28492532
8723692	Pus1	pseudouridine synthase 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1323553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8723692	Pus1	pseudouridine synthase 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1323553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8723692	Pus1	pseudouridine synthase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8723724	Slu7	spliceosome associated SLU7	gene	DOID:1115	sarcoma		ISO	RGD:1606825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8723724	Slu7	spliceosome associated SLU7	gene	DOID:1324	lung cancer		ISO	RGD:1606825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8723724	Slu7	spliceosome associated SLU7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723724	Slu7	spliceosome associated SLU7	gene	DOID:6039	uveal melanoma		ISO	RGD:1606825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8723724	Slu7	spliceosome associated SLU7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8723724	Slu7	spliceosome associated SLU7	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8723724	Slu7	spliceosome associated SLU7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8723724	Slu7	spliceosome associated SLU7	gene	DOID:9004657	Weight Gain		ISO	RGD:1606825	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8723724	Slu7	spliceosome associated SLU7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8723724	Slu7	spliceosome associated SLU7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1606823	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy	PMID:28492532
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1606823	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy	PMID:25741868|PMID:28492532
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606823	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:0061244	glucocorticoid deficiency 5		ISO	RGD:1606823	D	RGD:7240710	20190315	OMIM			
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:0061244	glucocorticoid deficiency 5		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glucocorticoid deficiency 5 | ClinVar Annotator: match by term: TXNRD2-related condition	PMID:16199547|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28416588|PMID:28492532|PMID:31712860|PMID:32257832
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:28492532
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:1067	open-angle glaucoma		ISO	RGD:1606823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26752265
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1606823	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17576681|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28074886|PMID:28166811|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:9536098
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1606823	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17576681|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28074886|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:9536098
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1606823	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17576681|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28074886|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:32257832|PMID:9536098
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:1324	lung cancer		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:3275	thymoma		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:16199547|PMID:25741868|PMID:28492532
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16199547|PMID:25741868|PMID:28492532
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1606823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21716162
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:61960	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:cerebral cortex	PMID:19128823|REF_RGD_ID:5685030
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:61960	D	RGD:9068941	20200609	RGD		mRNA:altered expression:myocardium (rat)	PMID:20571744|REF_RGD_ID:5133714
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:9005834	Ependymomas		ISO	RGD:1606823	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8723748	Txnrd2	thioredoxin reductase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:16199547|PMID:25741868|PMID:28492532
8723771	Actc1	actin alpha cardiac muscle 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:735789	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	
8723771	Actc1	actin alpha cardiac muscle 1	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:735789	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
8723771	Actc1	actin alpha cardiac muscle 1	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:735789	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24736382|PMID:25524337|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29907873|PMID:30371277|PMID:35626289
8723771	Actc1	actin alpha cardiac muscle 1	gene	DOID:0110110	atrial heart septal defect 5		ISO	RGD:735789	D	RGD:7240710	20180130	OMIM			
8723771	Actc1	actin alpha cardiac muscle 1	gene	DOID:0110110	atrial heart septal defect 5		ISO	RGD:735789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect 5	PMID:18458017|PMID:27125413|PMID:28492532
8723771	Actc1	actin alpha cardiac muscle 1	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:735789	D	RGD:8554872	20250513	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24736382|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30371277|PMID:32720330|PMID:7481775
8723771	Actc1	actin alpha cardiac muscle 1	gene	DOID:0110317	hypertrophic cardiomyopathy 11		ISO	RGD:735789	D	RGD:7240710	20180130	OMIM			
8723771	Actc1	actin alpha cardiac muscle 1	gene	DOID:0110456	dilated cardiomyopathy 1R		ISO	RGD:735789	D	RGD:7240710	20180228	OMIM			
8723771	Actc1	actin alpha cardiac muscle 1	gene	DOID:10763	hypertension		ISO	RGD:2026	D	RGD:9068941	20200609	RGD			PMID:16343576|REF_RGD_ID:1598724
8723771	Actc1	actin alpha cardiac muscle 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735789	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28492532
8723771	Actc1	actin alpha cardiac muscle 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735789	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30371277
8723771	Actc1	actin alpha cardiac muscle 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735789	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:22464770|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30371277
8723771	Actc1	actin alpha cardiac muscle 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735789	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular dilatation | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:22464770|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28416588|PMID:28492532|PMID:30371277
8723771	Actc1	actin alpha cardiac muscle 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735789	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular dilatation | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:22464770|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28416588|PMID:28492532|PMID:30371277|PMID:36252119|PMID:37342443
8723771	Actc1	actin alpha cardiac muscle 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735789	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular dilatation | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:22464770|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28416588|PMID:28492532|PMID:30371277|PMID:32720330|PMID:36252119|PMID:37342443
8723771	Actc1	actin alpha cardiac muscle 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735789	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular dilatation | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:22464770|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28416588|PMID:28492532|PMID:30371277|PMID:32720330|PMID:36252119|PMID:37342443|PMID:7481775
8723771	Actc1	actin alpha cardiac muscle 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735789	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular dilatation | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:22464770|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:26061005|PMID:26715934|PMID:27532257|PMID:28416588|PMID:28492532|PMID:30371277|PMID:30847666|PMID:31397097|PMID:32720330|PMID:33500567|PMID:33673806|PMID:34540771|PMID:36252119|PMID:37342443
8723771	Actc1	actin alpha cardiac muscle 1	gene	DOID:12930	dilated cardiomyopathy	susceptibility	ISO	RGD:735789	D	RGD:9068941	20200609	RGD		DNA:point mutations: :p.Arg312His, p.Glu361Gly (human)	PMID:9563954|REF_RGD_ID:1559158
8723771	Actc1	actin alpha cardiac muscle 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:735789	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19424620
8723771	Actc1	actin alpha cardiac muscle 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:2026	D	RGD:9068941	20200609	RGD			PMID:11680626|REF_RGD_ID:1598729
8723771	Actc1	actin alpha cardiac muscle 1	gene	DOID:9835	refractive error		ISO	RGD:735789	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20835239
8723782	Klhl5	kelch like family member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8723782	Klhl5	kelch like family member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8723782	Klhl5	kelch like family member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1320120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8723782	Klhl5	kelch like family member 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8723782	Klhl5	kelch like family member 5	gene	DOID:1115	sarcoma		ISO	RGD:1320120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8723782	Klhl5	kelch like family member 5	gene	DOID:1324	lung cancer		ISO	RGD:1320120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8723782	Klhl5	kelch like family member 5	gene	DOID:3070	high grade glioma		ISO	RGD:1320120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8723782	Klhl5	kelch like family member 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8723782	Klhl5	kelch like family member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723782	Klhl5	kelch like family member 5	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1320120	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
8723782	Klhl5	kelch like family member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8723782	Klhl5	kelch like family member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8723782	Klhl5	kelch like family member 5	gene	DOID:9975	cocaine dependence	susceptibility	ISO	RGD:1320120	D	RGD:9068941	20231102	RGD		DNA:SNP:: (rs1046655) (human)	PMID:18438686|REF_RGD_ID:401851917
8723798	Rps15a	ribosomal protein S15a	gene	DOID:0111891	Diamond-Blackfan anemia 20		ISO	RGD:735975	D	RGD:7240710	20190315	OMIM			
8723798	Rps15a	ribosomal protein S15a	gene	DOID:0111891	Diamond-Blackfan anemia 20		ISO	RGD:735975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia 20	PMID:25741868|PMID:27909223
8723798	Rps15a	ribosomal protein S15a	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8723798	Rps15a	ribosomal protein S15a	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8723798	Rps15a	ribosomal protein S15a	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723813	Cerkl	CERK like autophagy regulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8723813	Cerkl	CERK like autophagy regulator	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1346381	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:14681825|PMID:15708351|PMID:19578027|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24625443|PMID:24705292|PMID:25097241|PMID:25525159|PMID:25741868|PMID:25999674|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29555955|PMID:30004997|PMID:30337596|PMID:30718709|PMID:31054281|PMID:31082679|PMID:31456290|PMID:31589614|PMID:31964843|PMID:32036094|PMID:32037395|PMID:32411380|PMID:32581362|PMID:32865075|PMID:33322828|PMID:33576794|PMID:33749171|PMID:34315337|PMID:34426522|PMID:34758253|PMID:34906470|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36819107|PMID:36909829
8723813	Cerkl	CERK like autophagy regulator	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1346381	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:30718709
8723813	Cerkl	CERK like autophagy regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8723813	Cerkl	CERK like autophagy regulator	gene	DOID:0110368	retinitis pigmentosa 26		ISO	RGD:1346381	D	RGD:7240710	20180130	OMIM			
8723813	Cerkl	CERK like autophagy regulator	gene	DOID:0110368	retinitis pigmentosa 26		ISO	RGD:1346381	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CERKL-related disorder | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 26 | ClinVar Annotator: match by term: Retinitis Pigmentosa 26 | ClinVar Annotator: match by term: Retinitis pigmentosa 26 | ClinVar Annotator: match by term: Retinitis pigmentosa type 26	PMID:14681825|PMID:16199547|PMID:17576681|PMID:18055789|PMID:18978954|PMID:19501188|PMID:19667359|PMID:20554613|PMID:23591405|PMID:23661369|PMID:24043777|PMID:24498393|PMID:24547929|PMID:24735978|PMID:25097241|PMID:25342276|PMID:25356976|PMID:25741868|PMID:26103963|PMID:26355662|PMID:26766544|PMID:27208204|PMID:27813578|PMID:27898983|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28838317|PMID:29068140|PMID:30029497|PMID:30054919|PMID:30337596|PMID:30718709|PMID:31054281|PMID:31456290|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32340307|PMID:32483926|PMID:32531858|PMID:33090715|PMID:33322828|PMID:33576794|PMID:33749171|PMID:33921607|PMID:34315337|PMID:34662339|PMID:34906470|PMID:35119454|PMID:35318874|PMID:35836572|PMID:36196406|PMID:36729443|PMID:36819107|PMID:36832217|PMID:36909829|PMID:37322672|PMID:37331655|PMID:38540785|PMID:9536098
8723813	Cerkl	CERK like autophagy regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1346381	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:14681825|PMID:15708351|PMID:16199547|PMID:17576681|PMID:18055789|PMID:18978954|PMID:19501188|PMID:19578027|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23105016|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24547929|PMID:24625443|PMID:24705292|PMID:24735978|PMID:25097241|PMID:25342276|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26355662|PMID:27208204|PMID:28041643|PMID:28157192|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29068140|PMID:29074561|PMID:29555955|PMID:30054919|PMID:30337596|PMID:30718709|PMID:31054281|PMID:31082679|PMID:31456290|PMID:31589614|PMID:31816670|PMID:31964843|PMID:32036094|PMID:32037395|PMID:32411380|PMID:32531858|PMID:32581362|PMID:32865075|PMID:33322828|PMID:33576794|PMID:33749171|PMID:33921607|PMID:34315337|PMID:34426522|PMID:34758253|PMID:34906470|PMID:35119454|PMID:35318874|PMID:35456422|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9536098
8723813	Cerkl	CERK like autophagy regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1346381	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:14681825|PMID:15708351|PMID:16199547|PMID:17576681|PMID:18055789|PMID:18978954|PMID:19501188|PMID:19578027|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23105016|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24547929|PMID:24625443|PMID:24705292|PMID:24735978|PMID:25097241|PMID:25342276|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26355662|PMID:27208204|PMID:28041643|PMID:28157192|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29068140|PMID:29555955|PMID:30054919|PMID:30337596|PMID:30718709|PMID:31054281|PMID:31082679|PMID:31456290|PMID:31589614|PMID:31816670|PMID:31964843|PMID:32036094|PMID:32037395|PMID:32411380|PMID:32531858|PMID:32581362|PMID:32865075|PMID:33322828|PMID:33576794|PMID:33749171|PMID:33921607|PMID:34315337|PMID:34426522|PMID:34758253|PMID:34906470|PMID:35119454|PMID:35318874|PMID:35456422|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9536098
8723813	Cerkl	CERK like autophagy regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1346381	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:14681825|PMID:17576681|PMID:18978954|PMID:19501188|PMID:23105016|PMID:23591405|PMID:24043777|PMID:24735978|PMID:25342276|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28838317|PMID:29068140|PMID:32340307|PMID:32531858|PMID:33322828|PMID:34315337|PMID:36819107|PMID:37331655|PMID:9536098
8723813	Cerkl	CERK like autophagy regulator	gene	DOID:10584	retinitis pigmentosa	susceptibility	ISO	RGD:1346381	D	RGD:9068941	20200609	RGD		DNA:mutation:exon	PMID:14681825|REF_RGD_ID:1600829
8723813	Cerkl	CERK like autophagy regulator	gene	DOID:1324	lung cancer		ISO	RGD:1346381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8723813	Cerkl	CERK like autophagy regulator	gene	DOID:4448	macular degeneration		ISO	RGD:1346381	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	PMID:25741868
8723813	Cerkl	CERK like autophagy regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1346381	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8723813	Cerkl	CERK like autophagy regulator	gene	DOID:5679	retinal disease		ISO	RGD:1346381	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:14681825|PMID:15708351|PMID:19578027|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24625443|PMID:24705292|PMID:25097241|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25999674|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29074561|PMID:29555955|PMID:30337596|PMID:30718709|PMID:31054281|PMID:31082679|PMID:31456290|PMID:31589614|PMID:31964843|PMID:32036094|PMID:32037395|PMID:32411380|PMID:32531858|PMID:32581362|PMID:32865075|PMID:33322828|PMID:33576794|PMID:33749171|PMID:34315337|PMID:34426522|PMID:34758253|PMID:34906470|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36819107|PMID:36909829
8723813	Cerkl	CERK like autophagy regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723813	Cerkl	CERK like autophagy regulator	gene	DOID:630	genetic disease		ISO	RGD:1346381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8723813	Cerkl	CERK like autophagy regulator	gene	DOID:8501	fundus dystrophy		ISO	RGD:1346381	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:14681825|PMID:16199547|PMID:18978954|PMID:19501188|PMID:23591405|PMID:24043777|PMID:24735978|PMID:25741868|PMID:27208204|PMID:28005406|PMID:28041643|PMID:28130426|PMID:28492532|PMID:28838317|PMID:29068140|PMID:31106028|PMID:31816670|PMID:31964843|PMID:32340307|PMID:32865075|PMID:33322828|PMID:34315337|PMID:34662339|PMID:37331655
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:27993330|PMID:28726821
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1352934	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Chemke syndrome	PMID:25741868|PMID:28492532
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0050847	sleep apnea		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868|PMID:33504798
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0050902	medulloblastoma		ISO	RGD:1352934	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA | ClinVar Annotator: match by term: Medulloblastoma	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0060046	aphasia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aphasia	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0060058	lymphoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0060249	scoliosis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:38177409
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0060309	syndromic X-linked intellectual disability		ISO	RGD:1352934	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: X-linked syndromic intellectual disability	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0060320	inguinal hernia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0060604	ankyloglossia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ankyloglossia	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:25741868|PMID:38177409
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0060809	syndromic X-linked intellectual disability Claes-Jensen type		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 16	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0060827	X-linked intellectual disability-psychosis-macroorchidism syndrome		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 16	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:31474318
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0070777	syndromic X-linked intellectual developmental disorder, Snijders Blok type		ISO	RGD:1352934	D	RGD:7240710	20180130	OMIM			
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0070777	syndromic X-linked intellectual developmental disorder, Snijders Blok type		ISO	RGD:1352934	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: DDX3X-related X-linked intellectual disability | ClinVar Annotator: match by term: DDX3X-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Snijders Blok type	PMID:17576681|PMID:22722829|PMID:22820256|PMID:22832583|PMID:25533962|PMID:2563148|PMID:25741868|PMID:26091043|PMID:26235985|PMID:27058758|PMID:27159028|PMID:27180681|PMID:27993330|PMID:28327206|PMID:28467829|PMID:28492532|PMID:28726821|PMID:29302074|PMID:29490693|PMID:30125339|PMID:30349862|PMID:30734472|PMID:30765705|PMID:30817323|PMID:31216476|PMID:31574483|PMID:31618753|PMID:32135084|PMID:32371413|PMID:32553121|PMID:33057194|PMID:33149276|PMID:33230298|PMID:33258288|PMID:33460649|PMID:33504798|PMID:33627125|PMID:33692367|PMID:33741928|PMID:33993884|PMID:34008892|PMID:34356170|PMID:35121978|PMID:35392274|PMID:35982159|PMID:36114283|PMID:36219477|PMID:38057330|PMID:38177409|PMID:38421120|PMID:9536098
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:1352934	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:21779027|PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25724843|PMID:25741868|PMID:26235985|PMID:26598523|PMID:26822237|PMID:27058758|PMID:27180681|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30734472|PMID:30765705|PMID:31574483|PMID:32135084|PMID:32371413|PMID:32553121|PMID:33149276|PMID:33460649|PMID:33504798|PMID:33627125|PMID:33993884|PMID:34185076|PMID:34356170|PMID:37422363|PMID:38057330
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0080703	medulloblastoma SHH activated		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084|PMID:33741928
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0080704	medulloblastoma SHH activated and TP53 mutant		ISO	RGD:1352934	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated and TP53 mutant	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:27993330|PMID:28726821|PMID:32135084|PMID:38057330
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0080705	medulloblastoma SHH activated and TP53 wild-type		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated and TP53 wild-type	PMID:22722829|PMID:22820256|PMID:22832583|PMID:24651015|PMID:25741868|PMID:26235985|PMID:27180681|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30734472|PMID:32135084|PMID:33504798|PMID:33627125|PMID:33741928|PMID:38057330
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0080707	medulloblastoma non-WNT/non-SHH group 3		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 3	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25724843|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32371413|PMID:33741928|PMID:33993884|PMID:34356170|PMID:37422363|PMID:38057330
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0080708	medulloblastoma non-WNT/non-SHH group 4		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 4	PMID:22722829|PMID:22820256|PMID:22832583|PMID:27993330|PMID:28726821
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0080833	laryngomalacia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868|PMID:38177409
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0080918	polymicrogyria		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125|PMID:38177409
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0080920	bilateral generalized polymicrogyria		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral generalized polymicrogyria	PMID:25741868|PMID:26235985|PMID:30349862|PMID:31274575|PMID:32852922
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:1352934	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192917
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0110734	neurodegeneration with brain iron accumulation		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iron accumulation in brain	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:0111568	congenital vertical talus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital vertical talus	PMID:25741868|PMID:38177409
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:38177409
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:10534	stomach cancer		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:1059	intellectual disability		ISO	RGD:1352934	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:25741868|PMID:26235985|PMID:28492532|PMID:30349862|PMID:32165824|PMID:34008892
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:1059	intellectual disability		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27159028|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:30734472|PMID:30817323|PMID:31618753|PMID:31785789|PMID:32135084|PMID:32371413|PMID:32714884|PMID:33504798|PMID:33627125|PMID:33993884|PMID:34008892|PMID:34356170|PMID:38177409|PMID:38284452
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:1059	intellectual disability		ISO	RGD:1352934	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27159028|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:30734472|PMID:30817323|PMID:31618753|PMID:31785789|PMID:32135084|PMID:32371413|PMID:32714884|PMID:33258288|PMID:33504798|PMID:33627125|PMID:33993884|PMID:34008892|PMID:34356170|PMID:36114283|PMID:38177409|PMID:38284452
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:1059	intellectual disability		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual deficiency | ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability | ClinVar Annotator: match by term: severe intellectual disability	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27159028|PMID:27993330|PMID:28327206|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:30734472|PMID:30817323|PMID:31618753|PMID:31785789|PMID:32135084|PMID:32371413|PMID:32714884|PMID:33258288|PMID:33504798|PMID:33627125|PMID:33993884|PMID:34008892|PMID:34356170|PMID:36114283|PMID:38177409|PMID:38284452
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary open angle glaucoma	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:10907	microcephaly		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:32135084|PMID:32714884|PMID:33504798|PMID:33627125
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:10908	hydrocephalus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus | ClinVar Annotator: match by term: Ventriculomegaly	PMID:12535527|PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32135084|PMID:32371413|PMID:33993884|PMID:34356170
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:26235985|PMID:27159028|PMID:28327206|PMID:28492532|PMID:30817323|PMID:31618753|PMID:32371413|PMID:33504798
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:11111	hydronephrosis		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868|PMID:33504798
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:1115	sarcoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:1143	exotropia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32371413|PMID:33993884|PMID:34356170
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:11714	gestational diabetes		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:12535527|PMID:25741868|PMID:30349862
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:11782	astigmatism		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:12535527|PMID:33504798
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:11830	myopia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:38177409
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:12215	oligohydramnios		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:1247	blood coagulation disease		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:12639	pyloric stenosis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pyloric stenosis	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:12849	autistic disorder		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:13620	patent foramen ovale		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868|PMID:30349862
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25382417|PMID:35101336
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:1459	hypothyroidism		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868|PMID:26235985|PMID:28492532
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:14766	renal agenesis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal agenesis	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:1596	depressive disorder		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:1612	breast cancer	exacerbates	ISO	RGD:1352934	D	RGD:9068941	20220210	RGD		protein:increased expression:breast, nucleus (human)	PMID:28761359|REF_RGD_ID:151356502
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:1657	ventricular septal defect		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:30349862
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1352934	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:26928227
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:1826	epilepsy		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32371413|PMID:33504798|PMID:33993884|PMID:34356170
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:1909	melanoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:1969	cerebral palsy		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:2030	anxiety disorder		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:26235985|PMID:27159028|PMID:28327206|PMID:28492532|PMID:30817323|PMID:31618753|PMID:32371413
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:2340	craniosynostosis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Trigonocephaly	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker syndrome	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32371413|PMID:33993884|PMID:34356170
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	PMID:33504798
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:3144	cutis laxa		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:420	hypertrichosis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868|PMID:38177409
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:4362	cervical cancer		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1352934	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:24183723
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:540	strabismus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32135084
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:543	dystonia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:5723	optic atrophy		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:38177409
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:630	genetic disease		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12535527|PMID:17631897|PMID:22722829|PMID:22820256|PMID:22832583|PMID:25533962|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27058758|PMID:27159028|PMID:27993330|PMID:28327206|PMID:28333917|PMID:28371085|PMID:28492532|PMID:28726821|PMID:29490693|PMID:30125339|PMID:30734472|PMID:30817323|PMID:31618753|PMID:32135084|PMID:32371413|PMID:32553121|PMID:33149276|PMID:33460649|PMID:33504798|PMID:33627125|PMID:33993884|PMID:34356170|PMID:38421120
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:674	cleft palate		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868|PMID:30349862
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Juvenile rheumatoid arthritis	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1557808	D	RGD:9068941	20220210	RGD			PMID:30297359|REF_RGD_ID:151356499
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:684	hepatocellular carcinoma	sexual_dimorphism	ISO	RGD:1352934	D	RGD:9068941	20220210	RGD		associated with hepatitis B; mRNA,protein:decreased expression:liver (human)	PMID:16301996|REF_RGD_ID:151356660
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:769	neuroblastoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuroblastoma	PMID:21779027|PMID:23202128|PMID:26192917|PMID:27993330|PMID:30523111|PMID:38057330
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:7998	hyperthyroidism		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:83	cataract		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:8398	osteoarthritis		ISO	RGD:1352934	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:30349862|PMID:32135084|PMID:38177409
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:8649	tongue cancer	ameliorates	ISO	RGD:1557808	D	RGD:9068941	20220210	RGD			PMID:25918862|REF_RGD_ID:151356506
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:870	neuropathy		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:8927	learning disability		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868|PMID:26235985|PMID:27159028|PMID:28327206|PMID:28492532|PMID:30817323|PMID:31618753|PMID:32371413
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9000495	Tremor		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intention tremor	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9000586	Vocal Cord Paralysis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vocal cord paralysis	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9000962	Snoring		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Snoring	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1352934	D	RGD:9068941	20220210	RGD		human cells in mouse model	PMID:26087195|REF_RGD_ID:11096798
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9000966	Night Terror		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep terror	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9001031	Retrognathia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:32135084
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9001581	Constipation		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:38177409
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intrauterine growth retardation	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9002554	Tachycardia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:27159028
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9002569	Overweight		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral hemorrhage	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9002969	Nevus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9003132	Sialorrhea		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9003133	Hypertelorism		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27159028|PMID:27993330|PMID:28726821|PMID:30125339|PMID:30349862|PMID:32135084
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9003816	Macrocephaly		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32371413|PMID:33993884|PMID:34356170
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9004014	Adducted Thumbs Syndrome		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumbs, congenital Clasped	PMID:12535527
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9004507	Hirsutism		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868|PMID:27159028
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9004538	Hearing Loss		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9004866	Ataxia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9004934	BILATERAL CLEFT LIP		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cleft lip	PMID:25741868|PMID:30349862
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9005077	Joint Instability		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:33504798|PMID:38177409
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:12535527|PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27159028|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32135084|PMID:32371413|PMID:33993884|PMID:34356170
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9005616	Micrognathism		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27159028|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:32135084|PMID:32371413|PMID:33993884|PMID:34356170
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9006735	Overriding Aorta		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overriding aorta	PMID:25741868|PMID:30349862
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1352934	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16199547|PMID:22722829|PMID:22820256|PMID:22832583|PMID:24651015|PMID:25724843|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30581057|PMID:33627125|PMID:33741928|PMID:38057330
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	PMID:12535527
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9007573	Flatfoot		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:25741868|PMID:38177409
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9007661	Dwarfism		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:32135084|PMID:32714884|PMID:33627125
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9007722	Myoclonus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12535527|PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:25741895|PMID:26235985|PMID:27159028|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:32371413|PMID:33504798|PMID:33993884|PMID:34356170|PMID:38177409
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9008214	Genu Valgum		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9008421	Epistaxis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9008589	Hallux Valgus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	PMID:25741868|PMID:38177409
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9008965	Bronchomalacia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchomalacia	PMID:25741868|PMID:30349862
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:12535527
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:12535527|PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Systemic lupus erythematosus	PMID:25741868|PMID:33504798
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9256	colorectal cancer		ISO	RGD:1352934	D	RGD:9068941	20220210	RGD		protein:increased expression:colorectum (human)	PMID:31391454|REF_RGD_ID:151356658
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9256	colorectal cancer	ameliorates	ISO	RGD:1352934	D	RGD:9068941	20220210	RGD		human cells in mouse model	PMID:31391454|REF_RGD_ID:151356658
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1352934	D	RGD:9068941	20220210	RGD		protein:increased expression:colorectum (human)	PMID:26892600|PMID:27007150|REF_RGD_ID:151356503|REF_RGD_ID:151356505
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1352934	D	RGD:9068941	20220210	RGD		protein:increased expression:colorectum, nucleus (human)	PMID:28761359|REF_RGD_ID:151356502
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:1352934	D	RGD:9068941	20220210	RGD			PMID:26087195|REF_RGD_ID:11096798
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:27159028
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9834	hyperopia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9840	esotropia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868|PMID:27159028
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9970	obesity		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MC4R-related disorder | ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:26235985|PMID:27159028|PMID:28327206|PMID:28492532|PMID:30817323|PMID:31618753|PMID:32371413|PMID:33504798
8723832	Ddx3x	DEAD-box helicase 3 X-linked	gene	DOID:9993	hypoglycemia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
8723867	Cd207	CD207 molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1347897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8723867	Cd207	CD207 molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:1347897	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8723867	Cd207	CD207 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723867	Cd207	CD207 molecule	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8723867	Cd207	CD207 molecule	gene	DOID:9256	colorectal cancer		ISO	RGD:1347897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8723885	B9d1	B9 domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8723885	B9d1	B9 domain containing 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1602004	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:16199547|PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:29165578|PMID:32622957|PMID:34906502|PMID:9536098
8723885	B9d1	B9 domain containing 1	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1602004	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:17576681|PMID:21493627|PMID:25741868|PMID:25920555|PMID:26477546|PMID:28492532|PMID:29165578|PMID:32622957|PMID:34906502|PMID:9536098
8723885	B9d1	B9 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602004	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8723885	B9d1	B9 domain containing 1	gene	DOID:0060340	ciliopathy		ISO	RGD:1602004	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ciliopathies | ClinVar Annotator: match by term: ciliopathy	PMID:24886560|PMID:25741868|PMID:26092869|PMID:28492532|PMID:36180924
8723885	B9d1	B9 domain containing 1	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
8723885	B9d1	B9 domain containing 1	gene	DOID:0061294	Meckel syndrome 9		ISO	RGD:1602004	D	RGD:7240710	20180130	OMIM			
8723885	B9d1	B9 domain containing 1	gene	DOID:0061294	Meckel syndrome 9		ISO	RGD:1602004	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: B9D1-related disorder | ClinVar Annotator: match by term: Meckel syndrome, type 9	PMID:17576681|PMID:21493627|PMID:25741868|PMID:27894351|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
8723885	B9d1	B9 domain containing 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome	PMID:17576681|PMID:21493627|PMID:25741868|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
8723885	B9d1	B9 domain containing 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1602004	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16007087|PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:27123465|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
8723885	B9d1	B9 domain containing 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1602004	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
8723885	B9d1	B9 domain containing 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1602004	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
8723885	B9d1	B9 domain containing 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1602004	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:29165578|PMID:30055837|PMID:32622957|PMID:34906502|PMID:9536098
8723885	B9d1	B9 domain containing 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1602004	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:27854218|PMID:28492532|PMID:29165578|PMID:30055837|PMID:32622957|PMID:34906502|PMID:36180924|PMID:9536098
8723885	B9d1	B9 domain containing 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:17576681|PMID:21493627|PMID:25741868|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
8723885	B9d1	B9 domain containing 1	gene	DOID:0110996	Joubert Syndrome 27		ISO	RGD:1602004	D	RGD:7240710	20190315	OMIM			
8723885	B9d1	B9 domain containing 1	gene	DOID:0110996	Joubert Syndrome 27		ISO	RGD:1602004	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 27 | ClinVar Annotator: match by term: Joubert syndrome 27	PMID:17576681|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:29165578|PMID:30055837|PMID:32622957|PMID:34906502|PMID:9536098
8723885	B9d1	B9 domain containing 1	gene	DOID:1059	intellectual disability		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
8723885	B9d1	B9 domain containing 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
8723885	B9d1	B9 domain containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
8723885	B9d1	B9 domain containing 1	gene	DOID:1826	epilepsy		ISO	RGD:1602004	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8723885	B9d1	B9 domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
8723885	B9d1	B9 domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8723885	B9d1	B9 domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602004	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8723885	B9d1	B9 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8723885	B9d1	B9 domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8723885	B9d1	B9 domain containing 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1602004	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8723885	B9d1	B9 domain containing 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
8723885	B9d1	B9 domain containing 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
8723885	B9d1	B9 domain containing 1	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
8723885	B9d1	B9 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8723885	B9d1	B9 domain containing 1	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1602004	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
8723911	Ttc34	tetratricopeptide repeat domain 34	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2293894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8723911	Ttc34	tetratricopeptide repeat domain 34	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2293894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8723911	Ttc34	tetratricopeptide repeat domain 34	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2293894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8723911	Ttc34	tetratricopeptide repeat domain 34	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2293894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8723925	Fbp2	fructose-bisphosphatase 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:732425	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8723925	Fbp2	fructose-bisphosphatase 2	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:732425	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:35172013
8723925	Fbp2	fructose-bisphosphatase 2	gene	DOID:9005894	Childhood-Onset Remitting Leukodystrophy		ISO	RGD:732425	D	RGD:7240710	20220518	OMIM			
8723925	Fbp2	fructose-bisphosphatase 2	gene	DOID:9005894	Childhood-Onset Remitting Leukodystrophy		ISO	RGD:732425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leukodystrophy, childhood-onset, remitting	PMID:25741868
8723936	Ankrd33b	ankyrin repeat domain 33B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2307384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8723936	Ankrd33b	ankyrin repeat domain 33B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2307384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723936	Ankrd33b	ankyrin repeat domain 33B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2307384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8723945	Prrx1	paired related homeobox 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1606834	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22544366
8723945	Prrx1	paired related homeobox 1	gene	DOID:0060341	agnathia-otocephaly complex		ISO	RGD:1606834	D	RGD:7240710	20180130	OMIM			
8723945	Prrx1	paired related homeobox 1	gene	DOID:0060341	agnathia-otocephaly complex		ISO	RGD:1606834	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AGNATHIA-OTOCEPHALY COMPLEX | ClinVar Annotator: match by term: Agnathia-otocephaly complex	PMID:25741868
8723945	Prrx1	paired related homeobox 1	gene	DOID:3213	demyelinating disease		ISO	RGD:1606834	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30566868
8723945	Prrx1	paired related homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723945	Prrx1	paired related homeobox 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8723945	Prrx1	paired related homeobox 1	gene	DOID:630	genetic disease		ISO	RGD:1606834	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8723945	Prrx1	paired related homeobox 1	gene	DOID:9001031	Retrognathia		ISO	RGD:1606834	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23444262
8723945	Prrx1	paired related homeobox 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1606834	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208208
8723945	Prrx1	paired related homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8723945	Prrx1	paired related homeobox 1	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1606834	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:21294718|PMID:22211708|PMID:22674740|PMID:23444262|PMID:25741868|PMID:37154149
8723945	Prrx1	paired related homeobox 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8723970	Mepce	methylphosphate capping enzyme	gene	DOID:0060058	lymphoma		ISO	RGD:1603022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8723970	Mepce	methylphosphate capping enzyme	gene	DOID:10534	stomach cancer		ISO	RGD:1603022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8723970	Mepce	methylphosphate capping enzyme	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8723970	Mepce	methylphosphate capping enzyme	gene	DOID:1324	lung cancer		ISO	RGD:1603022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8723970	Mepce	methylphosphate capping enzyme	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723970	Mepce	methylphosphate capping enzyme	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:0050562	West syndrome		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:0060480	left ventricular noncompaction		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction	PMID:28492532
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:26299366|PMID:28492532
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:0080266	primary ciliary dyskinesia 37		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 37	PMID:26299366|PMID:28293831|PMID:28492532
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532|PMID:34926809
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:10534	stomach cancer		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:26467025|PMID:28492532
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:1059	intellectual disability		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:34926809
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:10907	microcephaly		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:1115	sarcoma		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:11782	astigmatism		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:11914	gastroparesis		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroparesis	PMID:25741868
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:12783	migraine without aura		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine without aura	PMID:28492532
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:12849	autistic disorder		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:34926809
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:1324	lung cancer		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:1826	epilepsy		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:2228	thrombocytosis		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytosis	PMID:25741868
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:2280	hidradenitis suppurativa		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acne inversa	PMID:25741868|PMID:28492532|PMID:34926809
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:2340	craniosynostosis		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:4362	cervical cancer		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:480	movement disease		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532|PMID:34926809
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:540	strabismus		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:26299366|PMID:28492532
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:5419	schizophrenia		ISO	RGD:1321404	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:6039	uveal melanoma		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:26467025|PMID:28492532
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:630	genetic disease		ISO	RGD:1321404	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:25741868|PMID:26299366|PMID:28293831|PMID:28492532
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:28492532
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:9002580	Metatarsus Varus		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metatarsus adductus	PMID:25741868|PMID:28492532
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532|PMID:34926809
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:9003133	Hypertelorism		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:9003703	Coxa Valga		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coxa valga	PMID:25741868
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:9004336	neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities		ISO	RGD:1321404	D	RGD:7240710	20180130	OMIM			
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:9004336	neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AFG2A-related condition | ClinVar Annotator: match by term: Epilepsy, hearing loss, and mental retardation syndrome | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES	PMID:16199547|PMID:17576681|PMID:25741868|PMID:26299366|PMID:26467025|PMID:28492532|PMID:28513609|PMID:29389922|PMID:30552426|PMID:31440721|PMID:33528536|PMID:9536098
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321404	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: syndromic complex neurodevelopmental disorder	PMID:25741868|PMID:26299366|PMID:26467025|PMID:28492532|PMID:28513609|PMID:31440721|PMID:33528536|PMID:35012964
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:28492532
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:34926809
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25741868
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:9007661	Dwarfism		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:9008675	Dyskinesias		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:25741868
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:9008681	Deafness		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: deafness	PMID:25741868
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:16199547|PMID:25741868|PMID:26299366|PMID:28293831|PMID:28492532
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532
8723979	Afg2a	AAA ATPase AFG2A	gene	DOID:9256	colorectal cancer		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:26467025|PMID:28492532
8724002	Btbd1	BTB domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8724002	Btbd1	BTB domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8724002	Btbd1	BTB domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1322160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8724002	Btbd1	BTB domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1322160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8724002	Btbd1	BTB domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1322160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8724002	Btbd1	BTB domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8724002	Btbd1	BTB domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322160	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8724002	Btbd1	BTB domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724002	Btbd1	BTB domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724002	Btbd1	BTB domain containing 1	gene	DOID:9008456	Delayed Emergence from Anesthesia		ISO	RGD:1322160	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16115977
8724032	Apln	apelin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8724032	Apln	apelin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8724032	Apln	apelin	gene	DOID:0060180	colitis		ISO	RGD:1332289	D	RGD:9068941	20200609	RGD			PMID:17391779|REF_RGD_ID:1626177
8724032	Apln	apelin	gene	DOID:0060180	colitis		ISO	RGD:620672	D	RGD:9068941	20200609	RGD			PMID:17391779|REF_RGD_ID:1626177
8724032	Apln	apelin	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1351986	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:16278229|REF_RGD_ID:1626174
8724032	Apln	apelin	gene	DOID:10763	hypertension		ISO	RGD:620672	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:aorta, heart	PMID:15664402|REF_RGD_ID:1626176
8724032	Apln	apelin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8724032	Apln	apelin	gene	DOID:11981	morbid obesity		ISO	RGD:1351986	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:19756893|REF_RGD_ID:2313938
8724032	Apln	apelin	gene	DOID:11981	morbid obesity		ISO	RGD:1351986	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:15970339|REF_RGD_ID:1600932
8724032	Apln	apelin	gene	DOID:12849	autistic disorder		ISO	RGD:14351525	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:21681106|PMID:30208311
8724032	Apln	apelin	gene	DOID:1920	hyperuricemia		ISO	RGD:1351986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:30710622
8724032	Apln	apelin	gene	DOID:4248	coronary stenosis		ISO	RGD:1351986	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:19015606|REF_RGD_ID:2313942
8724032	Apln	apelin	gene	DOID:4362	cervical cancer		ISO	RGD:1351986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8724032	Apln	apelin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724032	Apln	apelin	gene	DOID:6000	congestive heart failure		ISO	RGD:1351986	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:16263185|REF_RGD_ID:1626175
8724032	Apln	apelin	gene	DOID:6000	congestive heart failure		ISO	RGD:620672	D	RGD:9068941	20200609	RGD		associated with Hypertension, Pulmonary	PMID:17055480|REF_RGD_ID:1626171
8724032	Apln	apelin	gene	DOID:6000	congestive heart failure		ISO	RGD:620672	D	RGD:9068941	20200609	RGD		protein:increased expression:ventricle myocardium	PMID:17119870|REF_RGD_ID:1626186
8724032	Apln	apelin	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1351986	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:16263185|REF_RGD_ID:1626175
8724032	Apln	apelin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8724032	Apln	apelin	gene	DOID:8577	ulcerative colitis		ISO	RGD:1351986	D	RGD:9068941	20200609	RGD		protein:increased expression:intestine	PMID:17391779|REF_RGD_ID:1626177
8724032	Apln	apelin	gene	DOID:8778	Crohn's disease		ISO	RGD:1351986	D	RGD:9068941	20200609	RGD		protein:increased expression:intestine	PMID:17391779|REF_RGD_ID:1626177
8724032	Apln	apelin	gene	DOID:9000784	Fibrosis		ISO	RGD:1351986	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:30634441
8724032	Apln	apelin	gene	DOID:9001820	Pulmonary Arterial Hypertension	treatment	ISO	RGD:1332289	D	RGD:9068941	20230608	RGD			PMID:23867624|REF_RGD_ID:329848996
8724032	Apln	apelin	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1351986	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:30634441
8724032	Apln	apelin	gene	DOID:9003936	Cardiomegaly		ISO	RGD:620672	D	RGD:9068941	20200609	RGD		associated with Hypertension;protein:decreased expression:plasma, aorta, ventricle myocardium	PMID:16674982|REF_RGD_ID:1626173
8724032	Apln	apelin	gene	DOID:9006024	Hypotension		ISO	RGD:1351986	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:30634441
8724032	Apln	apelin	gene	DOID:9007692	Insulin Resistance		ISO	RGD:620672	D	RGD:9068941	20200609	RGD		mRNA:increased expression:subcutaneous adipose tissue	PMID:17594060|REF_RGD_ID:1626170
8724032	Apln	apelin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1351986	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:18484561|REF_RGD_ID:2313944
8724032	Apln	apelin	gene	DOID:9775	diastolic heart failure		ISO	RGD:1351986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
8724032	Apln	apelin	gene	DOID:9970	obesity		ISO	RGD:620672	D	RGD:9068941	20200609	RGD		mRNA:increased expression:subcutaneous adipose tissue	PMID:17594060|REF_RGD_ID:1626170
8724047	Ino80d	INO80 complex subunit D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8724047	Ino80d	INO80 complex subunit D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8724047	Ino80d	INO80 complex subunit D	gene	DOID:10534	stomach cancer		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8724047	Ino80d	INO80 complex subunit D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8724047	Ino80d	INO80 complex subunit D	gene	DOID:1115	sarcoma		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8724047	Ino80d	INO80 complex subunit D	gene	DOID:1909	melanoma		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8724047	Ino80d	INO80 complex subunit D	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8724047	Ino80d	INO80 complex subunit D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724047	Ino80d	INO80 complex subunit D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8724068	Crybb1	crystallin beta B1	gene	DOID:0110270	cataract 17 multiple types		ISO	RGD:731502	D	RGD:7240710	20180130	OMIM			
8724068	Crybb1	crystallin beta B1	gene	DOID:0110270	cataract 17 multiple types		ISO	RGD:731502	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cataract 17 multiple types	PMID:28492532
8724068	Crybb1	crystallin beta B1	gene	DOID:83	cataract		ISO	RGD:731502	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:12360425
8724068	Crybb1	crystallin beta B1	gene	DOID:83	cataract		ISO	RGD:731502	D	RGD:9068941	20250724	RGD		DNA:nonsense mutation:cds:p.G220X (human)	PMID:12360425|REF_RGD_ID:728217
8724078	Dusp28	dual specificity phosphatase 28	gene	DOID:2377	multiple sclerosis		ISO	RGD:1605823	D	RGD:9068941	20201218	CTD		CTD Direct Evidence: marker/mechanism	PMID:31068361
8724084	Siah2	siah E3 ubiquitin protein ligase 2	gene	DOID:110	lens disease		ISO	RGD:734303	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24282676
8724092	Tbc1d10a	TBC1 domain family member 10A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8724092	Tbc1d10a	TBC1 domain family member 10A	gene	DOID:10534	stomach cancer		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8724092	Tbc1d10a	TBC1 domain family member 10A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8724092	Tbc1d10a	TBC1 domain family member 10A	gene	DOID:1324	lung cancer		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8724092	Tbc1d10a	TBC1 domain family member 10A	gene	DOID:1909	melanoma		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8724092	Tbc1d10a	TBC1 domain family member 10A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8724092	Tbc1d10a	TBC1 domain family member 10A	gene	DOID:4362	cervical cancer		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8724092	Tbc1d10a	TBC1 domain family member 10A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724092	Tbc1d10a	TBC1 domain family member 10A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724092	Tbc1d10a	TBC1 domain family member 10A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8724134	Paqr3	progestin and adipoQ receptor family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1321322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8724134	Paqr3	progestin and adipoQ receptor family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724176	Gadl1	GAD like acidic amino acid decarboxylase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8724176	Gadl1	GAD like acidic amino acid decarboxylase 1	gene	DOID:1324	lung cancer		ISO	RGD:1351528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8724176	Gadl1	GAD like acidic amino acid decarboxylase 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1351528	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
8724212	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8724212	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:10534	stomach cancer		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8724212	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8724212	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:1115	sarcoma		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8724212	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:1324	lung cancer		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8724212	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:1909	melanoma		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8724212	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8724212	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8724212	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:4362	cervical cancer		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8724212	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8724212	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1315612	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8724212	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724212	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8724212	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8724212	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724212	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8724212	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8724276	Nr2f2	nuclear receptor subfamily 2 group F member 2	gene	DOID:0080943	46,XX sex reversal 5		ISO	RGD:735361	D	RGD:7240710	20200701	OMIM			
8724276	Nr2f2	nuclear receptor subfamily 2 group F member 2	gene	DOID:0080943	46,XX sex reversal 5		ISO	RGD:735361	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 46,XX SEX REVERSAL 5 | ClinVar Annotator: match by term: 46,xx sex reversal 5 | ClinVar Annotator: match by term: NR2F2-related disorder	PMID:25741868|PMID:28492532|PMID:29478779
8724276	Nr2f2	nuclear receptor subfamily 2 group F member 2	gene	DOID:10534	stomach cancer		ISO	RGD:735361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8724276	Nr2f2	nuclear receptor subfamily 2 group F member 2	gene	DOID:10763	hypertension		ISO	RGD:69305	D	RGD:9068941	20200609	RGD			PMID:25687237|REF_RGD_ID:10401852
8724276	Nr2f2	nuclear receptor subfamily 2 group F member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8724276	Nr2f2	nuclear receptor subfamily 2 group F member 2	gene	DOID:12849	autistic disorder		ISO	RGD:735361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic disorder of childhood onset	
8724276	Nr2f2	nuclear receptor subfamily 2 group F member 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735362	D	RGD:9068941	20240425	MouseDO			
8724276	Nr2f2	nuclear receptor subfamily 2 group F member 2	gene	DOID:289	endometriosis		ISO	RGD:735361	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
8724276	Nr2f2	nuclear receptor subfamily 2 group F member 2	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:735362	D	RGD:9068941	20220825	MouseDO		OMIM:142340 | OMIM:222400 | OMIM:610187	
8724276	Nr2f2	nuclear receptor subfamily 2 group F member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724276	Nr2f2	nuclear receptor subfamily 2 group F member 2	gene	DOID:630	genetic disease		ISO	RGD:735361	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:29222010|PMID:32719394
8724276	Nr2f2	nuclear receptor subfamily 2 group F member 2	gene	DOID:9002809	Congenital Heart Defects, Multiple Types, 4		ISO	RGD:735361	D	RGD:7240710	20180130	OMIM			
8724276	Nr2f2	nuclear receptor subfamily 2 group F member 2	gene	DOID:9002809	Congenital Heart Defects, Multiple Types, 4		ISO	RGD:735361	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 | ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4 | ClinVar Annotator: match by term: congenital heart defects, multiple types, 4	PMID:10215630|PMID:24702954|PMID:25741868|PMID:28492532|PMID:29478779|PMID:29570242|PMID:29663647|PMID:30720060|PMID:37500725
8724276	Nr2f2	nuclear receptor subfamily 2 group F member 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:735361	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
8724276	Nr2f2	nuclear receptor subfamily 2 group F member 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:735361	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8724276	Nr2f2	nuclear receptor subfamily 2 group F member 2	gene	DOID:9007456	Female Infertility		ISO	RGD:735361	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17590085
8724276	Nr2f2	nuclear receptor subfamily 2 group F member 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:735361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8724276	Nr2f2	nuclear receptor subfamily 2 group F member 2	gene	DOID:9008622	Adrenal Insufficiency		ISO	RGD:735361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal insufficiency	PMID:25741868
8724276	Nr2f2	nuclear receptor subfamily 2 group F member 2	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:735361	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17436238
8724293	Sfn	stratifin	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1312341	D	RGD:9068941	20211126	RGD		protein:increased expression:urothelium (human)	PMID:17645415|REF_RGD_ID:2299928
8724293	Sfn	stratifin	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1312341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
8724293	Sfn	stratifin	gene	DOID:2101	vulva squamous cell carcinoma		ISO	RGD:1312341	D	RGD:9068941	20200609	RGD		DNA, mRNA:hypermethylation, decreased expression:vulva	PMID:11896620|REF_RGD_ID:2299936
8724293	Sfn	stratifin	gene	DOID:2394	ovarian cancer		ISO	RGD:1312341	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ovary	PMID:16773180|REF_RGD_ID:2299930
8724293	Sfn	stratifin	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1312341	D	RGD:9068941	20200609	RGD			PMID:15102672|REF_RGD_ID:2299933
8724293	Sfn	stratifin	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:1312341	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:16964403|REF_RGD_ID:2299929
8724293	Sfn	stratifin	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1312341	D	RGD:9068941	20200609	RGD			PMID:16271083|REF_RGD_ID:2299931
8724293	Sfn	stratifin	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1312341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
8724293	Sfn	stratifin	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1312341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19381893
8724293	Sfn	stratifin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
8724293	Sfn	stratifin	gene	DOID:8719	in situ carcinoma		ISO	RGD:1312341	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:vulva	PMID:11896620|REF_RGD_ID:2299936
8724293	Sfn	stratifin	gene	DOID:9000058	Keloid		ISO	RGD:1312341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
8724293	Sfn	stratifin	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1312341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19381893
8724293	Sfn	stratifin	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:1312341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15986332
8724293	Sfn	stratifin	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1312341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
8724298	Ccdc51	coiled-coil domain containing 51	gene	DOID:10534	stomach cancer		ISO	RGD:1602866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8724298	Ccdc51	coiled-coil domain containing 51	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8724298	Ccdc51	coiled-coil domain containing 51	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724298	Ccdc51	coiled-coil domain containing 51	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8724298	Ccdc51	coiled-coil domain containing 51	gene	DOID:8501	fundus dystrophy		ISO	RGD:1602866	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
8724298	Ccdc51	coiled-coil domain containing 51	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724298	Ccdc51	coiled-coil domain containing 51	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8724309	Hsf5	heat shock transcription factor 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8724324	Ptpn5	protein tyrosine phosphatase non-receptor type 5	gene	DOID:10534	stomach cancer		ISO	RGD:736589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8724324	Ptpn5	protein tyrosine phosphatase non-receptor type 5	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736589	D	RGD:9068941	20200609	RGD		protein:increased expression:prefrontal cortex (human)	PMID:20427654|REF_RGD_ID:9835008
8724324	Ptpn5	protein tyrosine phosphatase non-receptor type 5	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736590	D	RGD:9068941	20200609	RGD		protein:increased expression:dentate gyrus (mouse)	PMID:16237174|REF_RGD_ID:10044037
8724324	Ptpn5	protein tyrosine phosphatase non-receptor type 5	gene	DOID:10652	Alzheimer's disease	severity	ISO	RGD:736590	D	RGD:9068941	20200609	RGD			PMID:20956308|REF_RGD_ID:9835007
8724324	Ptpn5	protein tyrosine phosphatase non-receptor type 5	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3448	D	RGD:9068941	20200609	RGD		protein:decreased phosphorylation, decreased expression:striatum (rat)	PMID:24198371|REF_RGD_ID:9835010
8724324	Ptpn5	protein tyrosine phosphatase non-receptor type 5	gene	DOID:224	transient cerebral ischemia	severity	ISO	RGD:736590	D	RGD:9068941	20200609	RGD			PMID:24198371|REF_RGD_ID:9835010
8724324	Ptpn5	protein tyrosine phosphatase non-receptor type 5	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:3448	D	RGD:9068941	20200609	RGD			PMID:24198371|REF_RGD_ID:9835010
8724324	Ptpn5	protein tyrosine phosphatase non-receptor type 5	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:736589	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:17360923
8724324	Ptpn5	protein tyrosine phosphatase non-receptor type 5	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:3448	D	RGD:9068941	20200609	RGD		STEP33;protein:increased expression:forebrain (rat)	PMID:10537057|REF_RGD_ID:9835021
8724324	Ptpn5	protein tyrosine phosphatase non-receptor type 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724324	Ptpn5	protein tyrosine phosphatase non-receptor type 5	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:3448	D	RGD:9068941	20200609	RGD		protein:increased expression:retina (rat)	PMID:15555919|REF_RGD_ID:9835027
8724348	Selenot	selenoprotein T	gene	DOID:4362	cervical cancer		ISO	RGD:1602000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8724348	Selenot	selenoprotein T	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724348	Selenot	selenoprotein T	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724363	Pard6a	par-6 family cell polarity regulator alpha	gene	DOID:3275	thymoma		ISO	RGD:1345737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8724363	Pard6a	par-6 family cell polarity regulator alpha	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1345737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8724363	Pard6a	par-6 family cell polarity regulator alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724363	Pard6a	par-6 family cell polarity regulator alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724363	Pard6a	par-6 family cell polarity regulator alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8724376	LOC102026235	chromosome unknown open reading frame, human C12orf54	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8724376	LOC102026235	chromosome unknown open reading frame, human C12orf54	gene	DOID:10534	stomach cancer		ISO	RGD:1606175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8724376	LOC102026235	chromosome unknown open reading frame, human C12orf54	gene	DOID:1909	melanoma		ISO	RGD:1606175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8724376	LOC102026235	chromosome unknown open reading frame, human C12orf54	gene	DOID:4362	cervical cancer		ISO	RGD:1606175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8724376	LOC102026235	chromosome unknown open reading frame, human C12orf54	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8724387	Vangl1	VANGL planar cell polarity protein 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:8606973|RGD:8606974	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532
8724387	Vangl1	VANGL planar cell polarity protein 1	gene	DOID:0060674	catecholaminergic polymorphic ventricular tachycardia		ISO	RGD:1319967	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia	PMID:24033266|PMID:25741868|PMID:28492532
8724387	Vangl1	VANGL planar cell polarity protein 1	gene	DOID:0080074	neural tube defect		ISO	RGD:1319967	D	RGD:7240710	20260729	OMIM			
8724387	Vangl1	VANGL planar cell polarity protein 1	gene	DOID:0080074	neural tube defect		ISO	RGD:1319967	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to	PMID:19319979|PMID:25208524|PMID:25741868
8724387	Vangl1	VANGL planar cell polarity protein 1	gene	DOID:0080700	caudal regression syndrome		ISO	RGD:1319967	D	RGD:7240710	20260729	OMIM			
8724387	Vangl1	VANGL planar cell polarity protein 1	gene	DOID:0080700	caudal regression syndrome		ISO	RGD:1319967	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CAUDAL REGRESSION SYNDROME | ClinVar Annotator: match by term: Sacral defect with anterior meningocele	PMID:19319979|PMID:22892949|PMID:24307374|PMID:24407469|PMID:24452931|PMID:24838524|PMID:25208524|PMID:25741868
8724387	Vangl1	VANGL planar cell polarity protein 1	gene	DOID:10126	keratoconus		ISO	RGD:1319967	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Keratoconus	
8724387	Vangl1	VANGL planar cell polarity protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8724387	Vangl1	VANGL planar cell polarity protein 1	gene	DOID:1909	melanoma		ISO	RGD:1319967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8724387	Vangl1	VANGL planar cell polarity protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8724387	Vangl1	VANGL planar cell polarity protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8724387	Vangl1	VANGL planar cell polarity protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319967	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8724387	Vangl1	VANGL planar cell polarity protein 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1319967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868
8724387	Vangl1	VANGL planar cell polarity protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724387	Vangl1	VANGL planar cell polarity protein 1	gene	DOID:630	genetic disease		ISO	RGD:1319967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8724387	Vangl1	VANGL planar cell polarity protein 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1319967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868
8724387	Vangl1	VANGL planar cell polarity protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724387	Vangl1	VANGL planar cell polarity protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8724387	Vangl1	VANGL planar cell polarity protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1319967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8724412	Cubn	cubilin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:15024727|PMID:22929189|PMID:25349199|PMID:25741868|PMID:28492532|PMID:31613795|PMID:34979989|PMID:35064937
8724412	Cubn	cubilin	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
8724412	Cubn	cubilin	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:68502	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:0111365	benign familial hematuria		ISO	RGD:68502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microscopic hematuria	PMID:25741868
8724412	Cubn	cubilin	gene	DOID:10534	stomach cancer		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:22277662|PMID:25741868|PMID:28492532|PMID:31308072|PMID:35460704
8724412	Cubn	cubilin	gene	DOID:1059	intellectual disability		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:10591	pre-eclampsia		ISO	RGD:68502	D	RGD:9068941	20231130	RGD		associated with late term delivery; mRNA:decreased expression:placenta (human)	PMID:32682061|REF_RGD_ID:401901078
8724412	Cubn	cubilin	gene	DOID:10603	glucose intolerance		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glucose intolerance	
8724412	Cubn	cubilin	gene	DOID:1074	kidney failure		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	
8724412	Cubn	cubilin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8724412	Cubn	cubilin	gene	DOID:1115	sarcoma		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:22277662|PMID:25741868|PMID:28492532|PMID:31308072|PMID:35460704
8724412	Cubn	cubilin	gene	DOID:1184	nephrotic syndrome		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrotic range proteinuria	
8724412	Cubn	cubilin	gene	DOID:12176	goiter		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:1287	cardiovascular system disease		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:68502	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:1324	lung cancer		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:22277662|PMID:25741868|PMID:28492532|PMID:31308072|PMID:35460704
8724412	Cubn	cubilin	gene	DOID:13382	megaloblastic anemia		ISO	RGD:68502	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Megaloblastic anemia | ClinVar Annotator: match by term: Megaloblastic anemia due to inborn errors of metabolism	PMID:10080186|PMID:10887099|PMID:15024727|PMID:16199547|PMID:17576681|PMID:22929189|PMID:24033266|PMID:24156255|PMID:25349199|PMID:25741868|PMID:26827111|PMID:28204945|PMID:28492532|PMID:29801666|PMID:30900415|PMID:31308072|PMID:31462756|PMID:31613795|PMID:31947599|PMID:33111339|PMID:33532864|PMID:34426522|PMID:34979989|PMID:36891821|PMID:39039281|PMID:7573042|PMID:9536098
8724412	Cubn	cubilin	gene	DOID:1596	depressive disorder		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:1826	epilepsy		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:1909	melanoma		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:1920	hyperuricemia		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperuricemia	
8724412	Cubn	cubilin	gene	DOID:2841	asthma		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:3275	thymoma		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:68502	D	RGD:9068941	20230629	RGD		DNA:SNP,haplotypes:intron: (rs2291521)G>A (human)	PMID:33004870|REF_RGD_ID:329901841
8724412	Cubn	cubilin	gene	DOID:4362	cervical cancer		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:26827111|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:480	movement disease		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:5041	esophageal cancer		ISO	RGD:68502	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:22277662|PMID:25741868|PMID:28492532|PMID:31308072|PMID:35460704
8724412	Cubn	cubilin	gene	DOID:576	proteinuria		ISO	RGD:68502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:15024727|PMID:22929189|PMID:25349199|PMID:25741868|PMID:28492532|PMID:31613795|PMID:34979989
8724412	Cubn	cubilin	gene	DOID:6039	uveal melanoma		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:630	genetic disease		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28204945|PMID:28492532|PMID:36891821|PMID:39039281
8724412	Cubn	cubilin	gene	DOID:670	amphetamine abuse		ISO	RGD:68502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
8724412	Cubn	cubilin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:784	chronic kidney disease		ISO	RGD:68502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	
8724412	Cubn	cubilin	gene	DOID:7998	hyperthyroidism		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:9000104	Glomerular Diseases		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glomerulopathy	PMID:15024727|PMID:22929189|PMID:25349199|PMID:25741868|PMID:28492532|PMID:31613795|PMID:34979989
8724412	Cubn	cubilin	gene	DOID:9000363	Hematuria		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematuria	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:9000445	Azotemia		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Azotemia	
8724412	Cubn	cubilin	gene	DOID:9001542	Albuminuria		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albuminuria	
8724412	Cubn	cubilin	gene	DOID:9001733	Tinnitus		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:68355	D	RGD:9068941	20200609	RGD			PMID:17037740|REF_RGD_ID:1599655
8724412	Cubn	cubilin	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:27197912|PMID:28492532|PMID:30220432
8724412	Cubn	cubilin	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:68502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:9005529	Chronic Benign Proteinuria		ISO	RGD:68502	D	RGD:7240710	20200819	OMIM			
8724412	Cubn	cubilin	gene	DOID:9005529	Chronic Benign Proteinuria		ISO	RGD:68502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CUBN-related disorder | ClinVar Annotator: match by term: PROTEINURIA, CHRONIC BENIGN | ClinVar Annotator: match by term: Proteinuria, chronic benign	PMID:10080186|PMID:15024727|PMID:16199547|PMID:17576681|PMID:22495309|PMID:22929189|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26827111|PMID:27197912|PMID:28204945|PMID:28492532|PMID:29801666|PMID:31308072|PMID:31497480|PMID:31613795|PMID:33532864|PMID:33980730|PMID:34610128|PMID:34979989|PMID:35064937|PMID:36112210|PMID:36891821|PMID:39039281|PMID:9536098
8724412	Cubn	cubilin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
8724412	Cubn	cubilin	gene	DOID:9006481	Imerslund-Grasbeck Syndrome 1		ISO	RGD:68502	D	RGD:7240710	20180130	OMIM			
8724412	Cubn	cubilin	gene	DOID:9006481	Imerslund-Grasbeck Syndrome 1		ISO	RGD:68502	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ENTEROCYTE COBALAMIN MALABSORPTION | ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: IMERSLUND-GRASBECK SYNDROME 1 | ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome 1 | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type | ClinVar Annotator: match by term: PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA	PMID:10080186|PMID:15024727|PMID:16199547|PMID:17576681|PMID:22277662|PMID:22495309|PMID:22929189|PMID:24033266|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26827111|PMID:27197912|PMID:28204945|PMID:28492532|PMID:29801666|PMID:30220432|PMID:30900415|PMID:31308072|PMID:31462756|PMID:31613795|PMID:31947599|PMID:33111339|PMID:33532864|PMID:33980730|PMID:34426522|PMID:34610128|PMID:34979989|PMID:35064937|PMID:35460704|PMID:36112210|PMID:36891821|PMID:39039281|PMID:9536098
8724412	Cubn	cubilin	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:9006825	Imerslund-Grasbeck Syndrome		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome	PMID:10080186|PMID:15024727|PMID:16199547|PMID:17576681|PMID:21208123|PMID:22277662|PMID:22495309|PMID:22929189|PMID:24033266|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26827111|PMID:27197912|PMID:28204945|PMID:28492532|PMID:29801666|PMID:30220432|PMID:30900415|PMID:31308072|PMID:31462756|PMID:31613795|PMID:31947599|PMID:33111339|PMID:33226606|PMID:33532864|PMID:33980730|PMID:34426522|PMID:34610128|PMID:34979989|PMID:35064937|PMID:35460704|PMID:36112210|PMID:36891821|PMID:38488435|PMID:39039281|PMID:9536098
8724412	Cubn	cubilin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:9007284	Precocious Puberty		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:9007736	Vertigo		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:9008023	Memory Disorders		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8724412	Cubn	cubilin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:9351	diabetes mellitus		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	
8724412	Cubn	cubilin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
8724412	Cubn	cubilin	gene	DOID:9834	hyperopia		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
8724412	Cubn	cubilin	gene	DOID:9970	obesity		ISO	RGD:68502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
8724488	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8724488	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:1115	sarcoma		ISO	RGD:1320234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8724488	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:11476	osteoporosis		ISO	RGD:1320234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20548961
8724488	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:12858	Huntington's disease		ISO	RGD:1320235	D	RGD:9068941	20220825	MouseDO		OMIM:143100	
8724488	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:1324	lung cancer		ISO	RGD:1320234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8724488	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8724488	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:4362	cervical cancer		ISO	RGD:1320234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8724488	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320234	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8724488	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1320234	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8724488	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724488	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8724488	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724488	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8724488	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8724488	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:9120	amyloidosis		ISO	RGD:1320234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20548961
8724488	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:987	alopecia		ISO	RGD:1320234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20548961
8724513	Syt5	synaptotagmin 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8724513	Syt5	synaptotagmin 5	gene	DOID:1909	melanoma		ISO	RGD:731962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8724526	Rims3	regulating synaptic membrane exocytosis 3	gene	DOID:1324	lung cancer		ISO	RGD:1347880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8724526	Rims3	regulating synaptic membrane exocytosis 3	gene	DOID:3275	thymoma		ISO	RGD:1347880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8724526	Rims3	regulating synaptic membrane exocytosis 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1347880	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8724526	Rims3	regulating synaptic membrane exocytosis 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8724526	Rims3	regulating synaptic membrane exocytosis 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724553	Kif20a	kinesin family member 20A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8724553	Kif20a	kinesin family member 20A	gene	DOID:0060058	lymphoma		ISO	RGD:1317032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8724553	Kif20a	kinesin family member 20A	gene	DOID:0061025	familial restrictive cardiomyopathy 6		ISO	RGD:1317032	D	RGD:7240710	20210728	OMIM			
8724553	Kif20a	kinesin family member 20A	gene	DOID:0061025	familial restrictive cardiomyopathy 6		ISO	RGD:1317032	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 6 | ClinVar Annotator: match by term: KIF20A-related condition	PMID:25741868|PMID:28492532|PMID:29357359
8724553	Kif20a	kinesin family member 20A	gene	DOID:0080600	COVID-19		ISO	RGD:1317032	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8724553	Kif20a	kinesin family member 20A	gene	DOID:10534	stomach cancer		ISO	RGD:1317032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8724553	Kif20a	kinesin family member 20A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8724553	Kif20a	kinesin family member 20A	gene	DOID:1115	sarcoma		ISO	RGD:1317032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8724553	Kif20a	kinesin family member 20A	gene	DOID:1324	lung cancer		ISO	RGD:1317032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8724553	Kif20a	kinesin family member 20A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8724553	Kif20a	kinesin family member 20A	gene	DOID:5041	esophageal cancer		ISO	RGD:1317032	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8724553	Kif20a	kinesin family member 20A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317032	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8724553	Kif20a	kinesin family member 20A	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1317032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8724553	Kif20a	kinesin family member 20A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8724553	Kif20a	kinesin family member 20A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8724576	Dtx3	deltex E3 ubiquitin ligase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1347578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8724576	Dtx3	deltex E3 ubiquitin ligase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1347578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8724576	Dtx3	deltex E3 ubiquitin ligase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8724576	Dtx3	deltex E3 ubiquitin ligase 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1347578	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151356
8724576	Dtx3	deltex E3 ubiquitin ligase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8724632	LOC102008614	cytochrome c oxidase subunit 7A1, mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8724632	LOC102008614	cytochrome c oxidase subunit 7A1, mitochondrial	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1615204	D	RGD:9068941	20220825	MouseDO			
8724632	LOC102008614	cytochrome c oxidase subunit 7A1, mitochondrial	gene	DOID:1324	lung cancer		ISO	RGD:1348243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8724632	LOC102008614	cytochrome c oxidase subunit 7A1, mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:1348243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8724632	LOC102008614	cytochrome c oxidase subunit 7A1, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724632	LOC102008614	cytochrome c oxidase subunit 7A1, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724640	Cracr2b	calcium release activated channel regulator 2B	gene	DOID:10534	stomach cancer		ISO	RGD:1603869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8724640	Cracr2b	calcium release activated channel regulator 2B	gene	DOID:1115	sarcoma		ISO	RGD:1603869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8724640	Cracr2b	calcium release activated channel regulator 2B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8724640	Cracr2b	calcium release activated channel regulator 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724640	Cracr2b	calcium release activated channel regulator 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724640	Cracr2b	calcium release activated channel regulator 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8724662	Nmrk2	nicotinamide riboside kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724662	Nmrk2	nicotinamide riboside kinase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1344874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8724705	Nxt2	nuclear transport factor 2 like export factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8724705	Nxt2	nuclear transport factor 2 like export factor 2	gene	DOID:12336	male infertility		ISO	RGD:1350653	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Male infertility	PMID:25741868
8724705	Nxt2	nuclear transport factor 2 like export factor 2	gene	DOID:1909	melanoma		ISO	RGD:1350653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8724705	Nxt2	nuclear transport factor 2 like export factor 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1350653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8724705	Nxt2	nuclear transport factor 2 like export factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724705	Nxt2	nuclear transport factor 2 like export factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724731	Mtif2	mitochondrial translational initiation factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8724731	Mtif2	mitochondrial translational initiation factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8724731	Mtif2	mitochondrial translational initiation factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8724731	Mtif2	mitochondrial translational initiation factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1347555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8724731	Mtif2	mitochondrial translational initiation factor 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8724731	Mtif2	mitochondrial translational initiation factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347555	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8724731	Mtif2	mitochondrial translational initiation factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724731	Mtif2	mitochondrial translational initiation factor 2	gene	DOID:630	genetic disease		ISO	RGD:1347555	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8724731	Mtif2	mitochondrial translational initiation factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8724731	Mtif2	mitochondrial translational initiation factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724731	Mtif2	mitochondrial translational initiation factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:0060058	lymphoma		ISO	RGD:1345493	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1345493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:1115	sarcoma		ISO	RGD:1345493	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:1909	melanoma		ISO	RGD:1345493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:289	endometriosis		ISO	RGD:1345493	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:3070	high grade glioma		ISO	RGD:1345493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:3151	skin squamous cell carcinoma		ISO	RGD:1345493	D	RGD:9068941	20200609	RGD		protein:increased expression:foreskin (human)	PMID:22548649|REF_RGD_ID:9850272
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:3275	thymoma		ISO	RGD:1345493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1345493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345493	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1345493	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1345493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:6039	uveal melanoma		ISO	RGD:1345493	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345493	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1345493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345493	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8724762	Ddx5	DEAD-box helicase 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1345493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8724783	Mapt	microtubule associated protein tau	gene	DOID:0050156	idiopathic pulmonary fibrosis	susceptibility	ISO	RGD:736496	D	RGD:9068941	20260411	RGD			PMID:39425105|REF_RGD_ID:645122574
8724783	Mapt	microtubule associated protein tau	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8724783	Mapt	microtubule associated protein tau	gene	DOID:0050700	cardiomyopathy		ISO	RGD:736496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29068127
8724783	Mapt	microtubule associated protein tau	gene	DOID:0050741	alcohol dependence		ISO	RGD:69329	D	RGD:9068941	20250320	RGD		protein:decreased expression:medulla oblongata	PMID:24595328|REF_RGD_ID:598092478
8724783	Mapt	microtubule associated protein tau	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:736496	D	RGD:9068941	20260411	RGD		associated with mild cognitive impair;protein:increased expression,phosphorylation:exosome, plasma	PMID:35504110|REF_RGD_ID:645122578
8724783	Mapt	microtubule associated protein tau	gene	DOID:0051060	frontotemporal dementia 1		ISO	RGD:736496	D	RGD:7240710	20260722	OMIM			
8724783	Mapt	microtubule associated protein tau	gene	DOID:0060224	atrial fibrillation		ISO	RGD:736496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
8724783	Mapt	microtubule associated protein tau	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:736496	D	RGD:7240710	20260722	OMIM			
8724783	Mapt	microtubule associated protein tau	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:736496	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset	PMID:10514099|PMID:10797541|PMID:10820221|PMID:11102510|PMID:11117542|PMID:11159174|PMID:11756436|PMID:11889249|PMID:12368474|PMID:12876142|PMID:14517953|PMID:15178938|PMID:15178940|PMID:16495230|PMID:18284428|PMID:18587238|PMID:18803694|PMID:18992292|PMID:19304664|PMID:19659892|PMID:20377816|PMID:20634584|PMID:21339331|PMID:21849646|PMID:22787795|PMID:23105105|PMID:23338682|PMID:23383383|PMID:23727082|PMID:24150109|PMID:25741868|PMID:25942996|PMID:26028272|PMID:26467025|PMID:28492532|PMID:9382467|PMID:9641683|PMID:9824291|PMID:9973279
8724783	Mapt	microtubule associated protein tau	gene	DOID:0080855	Parkinsonism		ISO	RGD:736496	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	
8724783	Mapt	microtubule associated protein tau	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:69329	D	RGD:9068941	20200609	RGD			PMID:27228974|REF_RGD_ID:13801017
8724783	Mapt	microtubule associated protein tau	gene	DOID:0081292	traumatic brain injury		ISO	RGD:69329	D	RGD:9068941	20200609	RGD			PMID:26484783|PMID:26729399|PMID:28412141|REF_RGD_ID:13800902|REF_RGD_ID:13800909|REF_RGD_ID:13800912
8724783	Mapt	microtubule associated protein tau	gene	DOID:0081292	traumatic brain injury		ISO	RGD:69329	D	RGD:9068941	20250320	RGD		associated with alcohol use disorder;protein:increased expression:medulla oblongata	PMID:24595328|REF_RGD_ID:598092478
8724783	Mapt	microtubule associated protein tau	gene	DOID:0081292	traumatic brain injury	disease_progression	ISO	RGD:69329	D	RGD:9068941	20260418	RGD			PMID:31853971|REF_RGD_ID:645123306
8724783	Mapt	microtubule associated protein tau	gene	DOID:0081292	traumatic brain injury	treatment	ISO	RGD:69329	D	RGD:9068941	20200609	RGD			PMID:25771151|REF_RGD_ID:13800917
8724783	Mapt	microtubule associated protein tau	gene	DOID:0081391	semantic dementia		ISO	RGD:736496	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Semantic dementia	PMID:25741868
8724783	Mapt	microtubule associated protein tau	gene	DOID:10283	prostate cancer		ISO	RGD:736496	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8724783	Mapt	microtubule associated protein tau	gene	DOID:10283	prostate cancer		ISO	RGD:736496	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8724783	Mapt	microtubule associated protein tau	gene	DOID:1059	intellectual disability		ISO	RGD:736496	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868|PMID:26467025|PMID:28492532
8724783	Mapt	microtubule associated protein tau	gene	DOID:1059	intellectual disability		ISO	RGD:736496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability syndrome | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868
8724783	Mapt	microtubule associated protein tau	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736496	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Alzheimer disease	PMID:10514099|PMID:10797541|PMID:10820221|PMID:11102510|PMID:11117542|PMID:11159174|PMID:11756436|PMID:11889249|PMID:12368474|PMID:12876142|PMID:14517953|PMID:15178938|PMID:15178940|PMID:16495230|PMID:18284428|PMID:18587238|PMID:18803694|PMID:18992292|PMID:19304664|PMID:19659892|PMID:20377816|PMID:20634584|PMID:21339331|PMID:21849646|PMID:22787795|PMID:23105105|PMID:23338682|PMID:23383383|PMID:23727082|PMID:24150109|PMID:25741868|PMID:25942996|PMID:26028272|PMID:26467025|PMID:28492532|PMID:30279455|PMID:9382467|PMID:9641683|PMID:9824291|PMID:9973279
8724783	Mapt	microtubule associated protein tau	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:736496	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotypes:promoter:rs242557 (human)	PMID:19308965|REF_RGD_ID:8158097
8724783	Mapt	microtubule associated protein tau	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:736496	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotypes:promoter:rs242557 (human)	PMID:23116876|REF_RGD_ID:8158105
8724783	Mapt	microtubule associated protein tau	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:736496	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:p.R406W(human)	PMID:18587238|REF_RGD_ID:10412701
8724783	Mapt	microtubule associated protein tau	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:69329	D	RGD:9068941	20200609	RGD			PMID:27060945|PMID:28342971|REF_RGD_ID:13800904|REF_RGD_ID:13800908
8724783	Mapt	microtubule associated protein tau	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:736496	D	RGD:9068941	20200609	RGD			PMID:19252918|REF_RGD_ID:10412704
8724783	Mapt	microtubule associated protein tau	gene	DOID:11162	respiratory failure		ISO	RGD:736496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14595660
8724783	Mapt	microtubule associated protein tau	gene	DOID:11870	Pick's disease		ISO	RGD:736496	D	RGD:7240710	20260722	OMIM			
8724783	Mapt	microtubule associated protein tau	gene	DOID:11870	Pick's disease		ISO	RGD:736496	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dementia with lobar atrophy and neuronal cytoplasmic inclusions | ClinVar Annotator: match by term: PICK DISEASE | ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease	PMID:10514099|PMID:10604746|PMID:10797541|PMID:10820221|PMID:11032905|PMID:11102510|PMID:11117542|PMID:11159174|PMID:11756436|PMID:11889249|PMID:12368474|PMID:12876142|PMID:14517953|PMID:15178938|PMID:15178940|PMID:16495230|PMID:18067537|PMID:18284428|PMID:18587238|PMID:18803694|PMID:18992292|PMID:19304664|PMID:19659892|PMID:20377816|PMID:20634584|PMID:21339331|PMID:21849646|PMID:22787795|PMID:23043292|PMID:23105105|PMID:23338682|PMID:23383383|PMID:23727082|PMID:24150109|PMID:25741868|PMID:25942996|PMID:26028272|PMID:26467025|PMID:27582388|PMID:27641626|PMID:27802239|PMID:28492532|PMID:30090657|PMID:9382467|PMID:9641683|PMID:9824291|PMID:9973279
8724783	Mapt	microtubule associated protein tau	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:736496	D	RGD:9068941	20210618	RGD		protein:increased expression:CSF, serum (human)	PMID:27929120|REF_RGD_ID:127284887
8724783	Mapt	microtubule associated protein tau	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:736496	D	RGD:9068941	20210625	RGD		protein:increased expression:CSF (human)	PMID:29368621|PMID:30309804|PMID:31541342|REF_RGD_ID:127284880|REF_RGD_ID:127284881|REF_RGD_ID:127284889
8724783	Mapt	microtubule associated protein tau	gene	DOID:1289	neurodegenerative disease		ISO	RGD:736496	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:9789048
8724783	Mapt	microtubule associated protein tau	gene	DOID:1307	dementia		ISO	RGD:736496	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dementia	PMID:10202939|PMID:10329720|PMID:10443890|PMID:10446810|PMID:10514099|PMID:10797541|PMID:10820221|PMID:11102510|PMID:11117542|PMID:11159174|PMID:11255441|PMID:11708988|PMID:11756436|PMID:11889249|PMID:11912108|PMID:11971081|PMID:11971082|PMID:12368474|PMID:12847166|PMID:12876142|PMID:14517953|PMID:15178938|PMID:15178940|PMID:15372253|PMID:15950767|PMID:16495230|PMID:17923640|PMID:18284428|PMID:18525295|PMID:18587238|PMID:18803694|PMID:18992292|PMID:19304664|PMID:19365643|PMID:19659892|PMID:19766248|PMID:19786698|PMID:19884572|PMID:19914360|PMID:20045477|PMID:20377816|PMID:20634584|PMID:21339331|PMID:21849646|PMID:22787795|PMID:23105105|PMID:23338682|PMID:23383383|PMID:23680655|PMID:23727082|PMID:23885714|PMID:24150109|PMID:25683866|PMID:25741868|PMID:25942996|PMID:26028272|PMID:26136155|PMID:26467025|PMID:26528178|PMID:27594586|PMID:28097206|PMID:28492532|PMID:31810826|PMID:7783864|PMID:7936288|PMID:8940276|PMID:9088499|PMID:9382467|PMID:9392579|PMID:9641683|PMID:9824291|PMID:9973279
8724783	Mapt	microtubule associated protein tau	gene	DOID:1307	dementia	disease_progression	ISO	RGD:736496	D	RGD:9068941	20200609	RGD		DNA:haplotype: :	PMID:20930301|REF_RGD_ID:10412700
8724783	Mapt	microtubule associated protein tau	gene	DOID:14330	Parkinson's disease		ISO	RGD:736496	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease	PMID:10514099|PMID:10797541|PMID:10820221|PMID:11102510|PMID:11117542|PMID:11159174|PMID:11756436|PMID:11889249|PMID:12368474|PMID:12876142|PMID:14517953|PMID:15178938|PMID:15178940|PMID:16495230|PMID:18284428|PMID:18587238|PMID:18803694|PMID:18992292|PMID:19304664|PMID:19659892|PMID:20377816|PMID:20634584|PMID:21339331|PMID:21849646|PMID:22787795|PMID:23105105|PMID:23338682|PMID:23383383|PMID:23727082|PMID:24150109|PMID:25741868|PMID:25942996|PMID:26028272|PMID:26467025|PMID:28492532|PMID:9382467|PMID:9641683|PMID:9824291|PMID:9973279
8724783	Mapt	microtubule associated protein tau	gene	DOID:14330	Parkinson's disease	susceptibility	ISO	RGD:736496	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: (rs8070723) (human)	PMID:22221882|REF_RGD_ID:8158107
8724783	Mapt	microtubule associated protein tau	gene	DOID:1459	hypothyroidism	treatment	ISO	RGD:69329	D	RGD:9068941	20260418	RGD			PMID:37368180|REF_RGD_ID:645123305
8724783	Mapt	microtubule associated protein tau	gene	DOID:1561	cognitive disorder		ISO	RGD:69329	D	RGD:9068941	20200609	RGD		associated with Hypothermia	PMID:25782579|REF_RGD_ID:13800916
8724783	Mapt	microtubule associated protein tau	gene	DOID:1561	cognitive disorder		ISO	RGD:69329	D	RGD:9068941	20200609	RGD		associated with Hypoxia	PMID:24993525|REF_RGD_ID:13801018
8724783	Mapt	microtubule associated protein tau	gene	DOID:1561	cognitive disorder		ISO	RGD:69329	D	RGD:9068941	20200609	RGD		associated with Insulin Resistance	PMID:24335173|REF_RGD_ID:13800925
8724783	Mapt	microtubule associated protein tau	gene	DOID:1561	cognitive disorder		ISO	RGD:69329	D	RGD:9068941	20200609	RGD		associated with hypothyroidism	PMID:24978200|REF_RGD_ID:13800922
8724783	Mapt	microtubule associated protein tau	gene	DOID:1561	cognitive disorder		ISO	RGD:69329	D	RGD:9068941	20200609	RGD		associated with obesity	PMID:25683673|REF_RGD_ID:13801008
8724783	Mapt	microtubule associated protein tau	gene	DOID:1561	cognitive disorder		ISO	RGD:736496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24556215|PMID:26945731
8724783	Mapt	microtubule associated protein tau	gene	DOID:1561	cognitive disorder	treatment	ISO	RGD:69329	D	RGD:9068941	20200609	RGD			PMID:24484683|REF_RGD_ID:13800924
8724783	Mapt	microtubule associated protein tau	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:736496	D	RGD:9068941	20200609	RGD			PMID:18668363|REF_RGD_ID:8158093
8724783	Mapt	microtubule associated protein tau	gene	DOID:1826	epilepsy	treatment	ISO	RGD:69329	D	RGD:9068941	20200609	RGD			PMID:28595035|REF_RGD_ID:13800901
8724783	Mapt	microtubule associated protein tau	gene	DOID:1909	melanoma		ISO	RGD:736496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8724783	Mapt	microtubule associated protein tau	gene	DOID:2030	anxiety disorder		ISO	RGD:736496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29860433
8724783	Mapt	microtubule associated protein tau	gene	DOID:2316	brain ischemia		ISO	RGD:69329	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation	PMID:15353210|REF_RGD_ID:1599927
8724783	Mapt	microtubule associated protein tau	gene	DOID:2449	acromegaly		ISO	RGD:69329	D	RGD:9068941	20260423	RGD		protein:hyperphosphorylation:hippocampus	PMID:38368872|REF_RGD_ID:645123332
8724783	Mapt	microtubule associated protein tau	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:736496	D	RGD:9068941	20260411	RGD			PMID:29335020|REF_RGD_ID:645122573
8724783	Mapt	microtubule associated protein tau	gene	DOID:3275	thymoma		ISO	RGD:736496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8724783	Mapt	microtubule associated protein tau	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:736496	D	RGD:9068941	20200609	RGD			PMID:28595035|REF_RGD_ID:13800901
8724783	Mapt	microtubule associated protein tau	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:69329	D	RGD:9068941	20200609	RGD			PMID:28886009|REF_RGD_ID:13800886
8724783	Mapt	microtubule associated protein tau	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:736497	D	RGD:9068941	20200609	RGD			PMID:28886009|REF_RGD_ID:13800886
8724783	Mapt	microtubule associated protein tau	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:69329	D	RGD:9068941	20200609	RGD			PMID:25903928|REF_RGD_ID:13800913
8724783	Mapt	microtubule associated protein tau	gene	DOID:4362	cervical cancer		ISO	RGD:736496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8724783	Mapt	microtubule associated protein tau	gene	DOID:4752	multiple system atrophy		ISO	RGD:736496	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple system atrophy	PMID:25741868
8724783	Mapt	microtubule associated protein tau	gene	DOID:4990	essential tremor	no_association	ISO	RGD:736496	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1052553 (human)	PMID:22911817|REF_RGD_ID:8158098
8724783	Mapt	microtubule associated protein tau	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724783	Mapt	microtubule associated protein tau	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8724783	Mapt	microtubule associated protein tau	gene	DOID:630	genetic disease		ISO	RGD:736496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10318930|PMID:10624829|PMID:12615641|PMID:15376481|PMID:17071927|PMID:19659892|PMID:25741868|PMID:25937274|PMID:26467025|PMID:27975259|PMID:28492532
8724783	Mapt	microtubule associated protein tau	gene	DOID:678	progressive supranuclear palsy		ISO	RGD:736496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia	PMID:25741868
8724783	Mapt	microtubule associated protein tau	gene	DOID:678	progressive supranuclear palsy	onset	ISO	RGD:736496	D	RGD:9068941	20200609	RGD			PMID:16839689|REF_RGD_ID:8158099
8724783	Mapt	microtubule associated protein tau	gene	DOID:680	tauopathy		ISO	RGD:736496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10604746|PMID:11889249|PMID:14595660|PMID:24556215|PMID:27569447
8724783	Mapt	microtubule associated protein tau	gene	DOID:680	tauopathy		ISO	RGD:736496	D	RGD:9068941	20200609	RGD			PMID:28721361|REF_RGD_ID:13800888
8724783	Mapt	microtubule associated protein tau	gene	DOID:680	tauopathy	treatment	ISO	RGD:69329	D	RGD:9068941	20200609	RGD			PMID:27998769|REF_RGD_ID:13800905
8724783	Mapt	microtubule associated protein tau	gene	DOID:680	tauopathy	treatment	ISO	RGD:736496	D	RGD:9068941	20200609	RGD			PMID:22874558|REF_RGD_ID:8158094
8724783	Mapt	microtubule associated protein tau	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8724783	Mapt	microtubule associated protein tau	gene	DOID:8725	vascular dementia	treatment	ISO	RGD:69329	D	RGD:9068941	20200609	RGD			PMID:27118553|REF_RGD_ID:13792766
8724783	Mapt	microtubule associated protein tau	gene	DOID:8927	learning disability		ISO	RGD:736496	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:24556215
8724783	Mapt	microtubule associated protein tau	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:69329	D	RGD:9068941	20200609	RGD			PMID:22052241|REF_RGD_ID:8158113
8724783	Mapt	microtubule associated protein tau	gene	DOID:9000794	Sporadic Creutzfeldt-Jakob Disease		ISO	RGD:736496	D	RGD:9068941	20210625	RGD		protein:increased expression:CSF, serum (human)	PMID:27929120|REF_RGD_ID:127284887
8724783	Mapt	microtubule associated protein tau	gene	DOID:9001109	Anorexia		ISO	RGD:736496	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: anorexia	
8724783	Mapt	microtubule associated protein tau	gene	DOID:9001366	Psychomotor Agitation		ISO	RGD:736496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24556215
8724783	Mapt	microtubule associated protein tau	gene	DOID:9001981	Weight Loss		ISO	RGD:736496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24556215
8724783	Mapt	microtubule associated protein tau	gene	DOID:9002322	Shy-Drager Syndrome		ISO	RGD:736496	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Shy-Drager syndrome	PMID:25741868
8724783	Mapt	microtubule associated protein tau	gene	DOID:9002644	Premature Aging		ISO	RGD:736497	D	RGD:9068941	20200609	RGD		protein:hyperphosphorylation:brain:	PMID:16171847|REF_RGD_ID:10412708
8724783	Mapt	microtubule associated protein tau	gene	DOID:9002720	Splenomegaly		ISO	RGD:736496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27117003
8724783	Mapt	microtubule associated protein tau	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:69329	D	RGD:9068941	20200609	RGD			PMID:15494405|REF_RGD_ID:1358431
8724783	Mapt	microtubule associated protein tau	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:736496	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cognitive decline | ClinVar Annotator: match by term: Mental deterioration	PMID:10202939|PMID:10329720|PMID:10443890|PMID:10446810|PMID:11255441|PMID:11708988|PMID:11912108|PMID:11971081|PMID:11971082|PMID:12847166|PMID:15372253|PMID:15950767|PMID:17923640|PMID:18525295|PMID:19365643|PMID:19766248|PMID:19786698|PMID:19884572|PMID:19914360|PMID:20045477|PMID:23680655|PMID:23727082|PMID:23885714|PMID:25683866|PMID:25741868|PMID:26136155|PMID:26467025|PMID:26528178|PMID:27594586|PMID:28097206|PMID:28492532|PMID:31810826|PMID:7783864|PMID:7936288|PMID:8940276|PMID:9088499|PMID:9392579|PMID:9641683
8724783	Mapt	microtubule associated protein tau	gene	DOID:9003676	Brain Hypoxia-Ischemia	treatment	ISO	RGD:69329	D	RGD:9068941	20200609	RGD			PMID:25665755|REF_RGD_ID:13782373
8724783	Mapt	microtubule associated protein tau	gene	DOID:9004657	Weight Gain		ISO	RGD:736496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29203278
8724783	Mapt	microtubule associated protein tau	gene	DOID:9004866	Ataxia		ISO	RGD:736496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:31783120
8724783	Mapt	microtubule associated protein tau	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:69329	D	RGD:9068941	20200609	RGD			PMID:28400135|REF_RGD_ID:13800903
8724783	Mapt	microtubule associated protein tau	gene	DOID:9005725	Iron Overload	treatment	ISO	RGD:69329	D	RGD:9068941	20200609	RGD			PMID:27403880|REF_RGD_ID:13800907
8724783	Mapt	microtubule associated protein tau	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:736496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30664745
8724783	Mapt	microtubule associated protein tau	gene	DOID:9006205	Animal Disease Models		ISO	RGD:736496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24556215
8724783	Mapt	microtubule associated protein tau	gene	DOID:9007402	Gliosis		ISO	RGD:736496	D	RGD:9068941	20200609	RGD			PMID:19155101|REF_RGD_ID:8158112
8724783	Mapt	microtubule associated protein tau	gene	DOID:9007510	Progressive Supranuclear Palsy 1		ISO	RGD:736496	D	RGD:7240710	20260722	OMIM			
8724783	Mapt	microtubule associated protein tau	gene	DOID:9007510	Progressive Supranuclear Palsy 1		ISO	RGD:736496	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1	PMID:10514099|PMID:10797541|PMID:10820221|PMID:11102510|PMID:11117542|PMID:11159174|PMID:11756436|PMID:11889249|PMID:12368474|PMID:12876142|PMID:14517953|PMID:15178938|PMID:15178940|PMID:16495230|PMID:18284428|PMID:18587238|PMID:18803694|PMID:18992292|PMID:19304664|PMID:19659892|PMID:20377816|PMID:20634584|PMID:21339331|PMID:21849646|PMID:22787795|PMID:23105105|PMID:23338682|PMID:23383383|PMID:23727082|PMID:24150109|PMID:25741868|PMID:25942996|PMID:26028272|PMID:26467025|PMID:28492532|PMID:9382467|PMID:9641683|PMID:9824291|PMID:9973279
8724783	Mapt	microtubule associated protein tau	gene	DOID:9007964	Arsenic Poisoning	treatment	ISO	RGD:69329	D	RGD:9068941	20260423	RGD			PMID:40204291|REF_RGD_ID:645123333
8724783	Mapt	microtubule associated protein tau	gene	DOID:9008023	Memory Disorders		ISO	RGD:736496	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:10202939|PMID:10329720|PMID:10443890|PMID:10446810|PMID:11255441|PMID:11708988|PMID:11912108|PMID:11971081|PMID:11971082|PMID:12847166|PMID:15372253|PMID:15950767|PMID:17923640|PMID:18525295|PMID:19365643|PMID:19766248|PMID:19786698|PMID:19884572|PMID:19914360|PMID:20045477|PMID:23680655|PMID:23727082|PMID:23885714|PMID:25683866|PMID:25741868|PMID:26136155|PMID:26467025|PMID:26528178|PMID:27594586|PMID:28097206|PMID:28492532|PMID:31810826|PMID:7783864|PMID:7936288|PMID:8940276|PMID:9088499|PMID:9392579|PMID:9641683
8724783	Mapt	microtubule associated protein tau	gene	DOID:9008394	Drug-Induced Dyskinesia	treatment	ISO	RGD:69329	D	RGD:9068941	20200609	RGD		associated with Parkinsonian Disorders	PMID:25511986|REF_RGD_ID:13800920
8724783	Mapt	microtubule associated protein tau	gene	DOID:9008534	Progressive Supranuclear Palsy Atypical		ISO	RGD:736496	D	RGD:7240710	20260722	OMIM			
8724783	Mapt	microtubule associated protein tau	gene	DOID:9008534	Progressive Supranuclear Palsy Atypical		ISO	RGD:736496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atypical PSP | ClinVar Annotator: match by term: Parkinson-dementia syndrome | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1, atypical	PMID:10202939|PMID:10329720|PMID:10443890|PMID:10446810|PMID:10514099|PMID:10797541|PMID:10820221|PMID:11102510|PMID:11117542|PMID:11159174|PMID:11255441|PMID:11708988|PMID:11756436|PMID:11889249|PMID:11912108|PMID:11971081|PMID:11971082|PMID:12368474|PMID:12847166|PMID:12876142|PMID:14517953|PMID:15178938|PMID:15178940|PMID:15372253|PMID:15950767|PMID:16495230|PMID:17923640|PMID:18284428|PMID:18525295|PMID:18587238|PMID:18803694|PMID:18992292|PMID:19304664|PMID:19365643|PMID:19659892|PMID:19766248|PMID:19786698|PMID:19884572|PMID:19914360|PMID:20045477|PMID:20377816|PMID:20634584|PMID:21339331|PMID:21849646|PMID:22787795|PMID:23105105|PMID:23338682|PMID:23383383|PMID:23680655|PMID:23727082|PMID:23885714|PMID:24150109|PMID:25683866|PMID:25741868|PMID:25942996|PMID:26028272|PMID:26136155|PMID:26467025|PMID:26528178|PMID:27594586|PMID:28097206|PMID:28492532|PMID:31810826|PMID:7783864|PMID:7936288|PMID:8940276|PMID:9088499|PMID:9382467|PMID:9392579|PMID:9641683|PMID:9824291|PMID:9973279
8724783	Mapt	microtubule associated protein tau	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8724783	Mapt	microtubule associated protein tau	gene	DOID:9255	frontotemporal dementia		ISO	RGD:736496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH PARKINSONISM | ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Semantic dementia	PMID:10076890|PMID:10202939|PMID:10318930|PMID:10329720|PMID:10443890|PMID:10446810|PMID:10514099|PMID:10624829|PMID:10797541|PMID:10820221|PMID:10931371|PMID:11102510|PMID:11117541|PMID:11117542|PMID:11159174|PMID:11255441|PMID:11456301|PMID:11708988|PMID:11756436|PMID:11756496|PMID:11889249|PMID:11912108|PMID:11921059|PMID:11971081|PMID:11971082|PMID:12325083|PMID:12368474|PMID:12615641|PMID:12810495|PMID:12847166|PMID:12876142|PMID:14517953|PMID:15047590|PMID:15178938|PMID:15178940|PMID:15365985|PMID:15372253|PMID:15376481|PMID:15883319|PMID:15950767|PMID:16008820|PMID:16416390|PMID:16495230|PMID:17071927|PMID:17576681|PMID:17712160|PMID:17923640|PMID:18284428|PMID:18525295|PMID:18587238|PMID:18803694|PMID:18851693|PMID:18854867|PMID:18992292|PMID:19091059|PMID:19263483|PMID:19304664|PMID:19365643|PMID:19659892|PMID:19766248|PMID:19786698|PMID:19884572|PMID:19914360|PMID:20045477|PMID:20377816|PMID:20598713|PMID:20634584|PMID:21339331|PMID:21343707|PMID:21344240|PMID:21849646|PMID:21943955|PMID:22118943|PMID:22312439|PMID:22787795|PMID:22906081|PMID:23047372|PMID:23105105|PMID:23338682|PMID:23383383|PMID:23680655|PMID:23727082|PMID:23881933|PMID:23885714|PMID:24018212|PMID:24081456|PMID:24150109|PMID:25333068|PMID:25574752|PMID:25604855|PMID:25617006|PMID:25628962|PMID:25671699|PMID:25683866|PMID:25741868|PMID:25937274|PMID:25942996|PMID:26028272|PMID:26136155|PMID:26200045|PMID:26220942|PMID:26269332|PMID:26426266|PMID:26467025|PMID:26528178|PMID:26601740|PMID:26940749|PMID:27439681|PMID:27594586|PMID:27606344|PMID:27632209|PMID:27975259|PMID:28097206|PMID:28130473|PMID:28287136|PMID:28462717|PMID:28492532|PMID:28855586|PMID:28923025|PMID:29525180|PMID:29936232|PMID:30279455|PMID:30590647|PMID:30793898|PMID:31404212|PMID:31810826|PMID:31836585|PMID:32028661|PMID:32171587|PMID:32317127|PMID:33006106|PMID:33580635|PMID:33772783|PMID:34158384|PMID:34305575|PMID:34561610|PMID:34999006|PMID:35020237|PMID:35896380|PMID:36133075|PMID:37070053|PMID:37256495|PMID:38134678|PMID:38708005|PMID:7783864|PMID:7936288|PMID:8940276|PMID:9088499|PMID:9382467|PMID:9392579|PMID:9536098|PMID:9629852|PMID:9636220|PMID:9641683|PMID:9824291|PMID:9973279
8724783	Mapt	microtubule associated protein tau	gene	DOID:9255	frontotemporal dementia	no_association	ISO	RGD:736496	D	RGD:9068941	20200609	RGD		DNA:haplotype	PMID:17386961|REF_RGD_ID:8158108
8724783	Mapt	microtubule associated protein tau	gene	DOID:9970	obesity		ISO	RGD:69329	D	RGD:9068941	20200609	RGD			PMID:25257559|REF_RGD_ID:13800921
8724820	Saxo5	stabilizer of axonemal microtubules 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8724820	Saxo5	stabilizer of axonemal microtubules 5	gene	DOID:10534	stomach cancer		ISO	RGD:1602810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8724820	Saxo5	stabilizer of axonemal microtubules 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8724820	Saxo5	stabilizer of axonemal microtubules 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724820	Saxo5	stabilizer of axonemal microtubules 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8724820	Saxo5	stabilizer of axonemal microtubules 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8724839	Cks2	CDC28 protein kinase regulatory subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8724839	Cks2	CDC28 protein kinase regulatory subunit 2	gene	DOID:0080600	COVID-19		ISO	RGD:1348782	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8724839	Cks2	CDC28 protein kinase regulatory subunit 2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1348782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8724839	Cks2	CDC28 protein kinase regulatory subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724839	Cks2	CDC28 protein kinase regulatory subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8724839	Cks2	CDC28 protein kinase regulatory subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724846	Flot2	flotillin 2	gene	DOID:10534	stomach cancer		ISO	RGD:735666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8724846	Flot2	flotillin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8724846	Flot2	flotillin 2	gene	DOID:1324	lung cancer		ISO	RGD:735666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8724846	Flot2	flotillin 2	gene	DOID:4362	cervical cancer		ISO	RGD:735666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8724846	Flot2	flotillin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:735666	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8724846	Flot2	flotillin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724846	Flot2	flotillin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724894	Slc43a2	solute carrier family 43 member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8724894	Slc43a2	solute carrier family 43 member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8724894	Slc43a2	solute carrier family 43 member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8724894	Slc43a2	solute carrier family 43 member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8724894	Slc43a2	solute carrier family 43 member 2	gene	DOID:1115	sarcoma		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8724894	Slc43a2	solute carrier family 43 member 2	gene	DOID:1324	lung cancer		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8724894	Slc43a2	solute carrier family 43 member 2	gene	DOID:1909	melanoma		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8724894	Slc43a2	solute carrier family 43 member 2	gene	DOID:3070	high grade glioma		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8724894	Slc43a2	solute carrier family 43 member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8724894	Slc43a2	solute carrier family 43 member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8724894	Slc43a2	solute carrier family 43 member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350504	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8724894	Slc43a2	solute carrier family 43 member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8724894	Slc43a2	solute carrier family 43 member 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8724894	Slc43a2	solute carrier family 43 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724894	Slc43a2	solute carrier family 43 member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8724917	Nelfa	negative elongation factor complex member A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8724917	Nelfa	negative elongation factor complex member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313651	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8724917	Nelfa	negative elongation factor complex member A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8724917	Nelfa	negative elongation factor complex member A	gene	DOID:4362	cervical cancer		ISO	RGD:1313651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8724917	Nelfa	negative elongation factor complex member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724917	Nelfa	negative elongation factor complex member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724917	Nelfa	negative elongation factor complex member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8724933	Crnkl1	crooked neck pre-mRNA splicing factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8724933	Crnkl1	crooked neck pre-mRNA splicing factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8724933	Crnkl1	crooked neck pre-mRNA splicing factor 1	gene	DOID:0070716	progressive microcephaly with simplified gyral pattern and cerebellar hypoplasia		ISO	RGD:733946	D	RGD:7240710	20260603	OMIM			
8724933	Crnkl1	crooked neck pre-mRNA splicing factor 1	gene	DOID:0070716	progressive microcephaly with simplified gyral pattern and cerebellar hypoplasia		ISO	RGD:733946	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY, PROGRESSIVE, WITH SIMPLIFIED GYRAL PATTERN AND CEREBELLAR HYPOPLASIA | ClinVar Annotator: match by term: Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia	PMID:25741868|PMID:40857589
8724933	Crnkl1	crooked neck pre-mRNA splicing factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:733946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8724933	Crnkl1	crooked neck pre-mRNA splicing factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8724933	Crnkl1	crooked neck pre-mRNA splicing factor 1	gene	DOID:1324	lung cancer		ISO	RGD:733946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8724933	Crnkl1	crooked neck pre-mRNA splicing factor 1	gene	DOID:1909	melanoma		ISO	RGD:733946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8724933	Crnkl1	crooked neck pre-mRNA splicing factor 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:733946	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.S128F (human)	PMID:23774526|REF_RGD_ID:9850250
8724933	Crnkl1	crooked neck pre-mRNA splicing factor 1	gene	DOID:3275	thymoma		ISO	RGD:733946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8724933	Crnkl1	crooked neck pre-mRNA splicing factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:733946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8724933	Crnkl1	crooked neck pre-mRNA splicing factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8724933	Crnkl1	crooked neck pre-mRNA splicing factor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8724933	Crnkl1	crooked neck pre-mRNA splicing factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724933	Crnkl1	crooked neck pre-mRNA splicing factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8724933	Crnkl1	crooked neck pre-mRNA splicing factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724933	Crnkl1	crooked neck pre-mRNA splicing factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8724955	Mark1	microtubule affinity regulating kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8724955	Mark1	microtubule affinity regulating kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:732241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8724955	Mark1	microtubule affinity regulating kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8724955	Mark1	microtubule affinity regulating kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:732241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8724955	Mark1	microtubule affinity regulating kinase 1	gene	DOID:12849	autistic disorder		ISO	RGD:732241	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18492799
8724955	Mark1	microtubule affinity regulating kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:732241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8724955	Mark1	microtubule affinity regulating kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:732241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8724955	Mark1	microtubule affinity regulating kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:732241	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8724955	Mark1	microtubule affinity regulating kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8724955	Mark1	microtubule affinity regulating kinase 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:732241	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
8724955	Mark1	microtubule affinity regulating kinase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732241	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8724955	Mark1	microtubule affinity regulating kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8724955	Mark1	microtubule affinity regulating kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:730853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:0050562	West syndrome		ISO	RGD:730853	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:22662185|PMID:28492532
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:0050741	alcohol dependence	onset	ISO	RGD:730853	D	RGD:9068941	20231109	RGD		DNA:SNPs: haplotype:multiple:rs1978340(human)	PMID:19111404|REF_RGD_ID:401900129
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:730853	D	RGD:9068941	20231109	RGD		DNA:SNPs, haplotype:5'UTR,IVS:Rs3749034,Rs2270335,Rs10439259(human)	PMID:17067345|REF_RGD_ID:401900127
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:0060001	withdrawal disorder	severity	ISO	RGD:730853	D	RGD:9068941	20231109	RGD		associated with alcohol dependence;DNA:haplotype: :	PMID:19111404|REF_RGD_ID:401900129
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:0060001	withdrawal disorder	sexual_dimorphism	ISO	RGD:2652	D	RGD:9068941	20231109	RGD		in female only, associated with alcohol dependence:protein:increased expression:cerebral cortex,hippocampus	PMID:15976529|REF_RGD_ID:1643202
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:0060041	autism spectrum disorder	sexual_dimorphism	ISO	RGD:2652	D	RGD:9068941	20231116	RGD			PMID:27353514|REF_RGD_ID:401900600
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:0112223	developmental and epileptic encephalopathy 89		ISO	RGD:730853	D	RGD:7240710	20201223	OMIM			
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:0112223	developmental and epileptic encephalopathy 89		ISO	RGD:730853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 89	PMID:25741868
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:10534	stomach cancer		ISO	RGD:730853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:10763	hypertension		ISO	RGD:730853	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:32165127
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:12700	hyperprolactinemia		ISO	RGD:730853	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7138674
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:12849	autistic disorder		ISO	RGD:730853	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17918742
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:1470	major depressive disorder		ISO	RGD:730853	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15560956
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:1742	drug psychosis		ISO	RGD:2652	D	RGD:9068941	20231109	RGD		protein:decreased expression:prefrontal cortex	PMID:24200867|REF_RGD_ID:401900162
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:1742	drug psychosis	susceptibility	ISO	RGD:730853	D	RGD:9068941	20231109	RGD		associated with amphetamine abuse; DNA:haplotype: :rs769404���rs701492(human)	PMID:27967329|REF_RGD_ID:401900122
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:1826	epilepsy		ISO	RGD:2652	D	RGD:9068941	20231116	RGD			PMID:14620876|REF_RGD_ID:401900594
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:2652	D	RGD:9068941	20240608	RGD		protein:decreased expression:hippocampus	PMID:28986280|REF_RGD_ID:405850254
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:2030	anxiety disorder	susceptibility	ISO	RGD:730853	D	RGD:9068941	20200609	RGD		DNA:snp(s)	PMID:22328461|REF_RGD_ID:6480264
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:224	transient cerebral ischemia	disease_progression	ISO	RGD:2652	D	RGD:9068941	20231116	RGD			PMID:20659561|REF_RGD_ID:401900597
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:730853	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:28492532|PMID:28832565
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:2560	morphine dependence		ISO	RGD:2652	D	RGD:9068941	20231109	RGD		mRNA:increased expression:dentate gyrus granule cell layer	PMID:15673448|REF_RGD_ID:401900167
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:3312	bipolar disorder		ISO	RGD:730853	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15560956
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:3312	bipolar disorder		ISO	RGD:730853	D	RGD:9068941	20200609	RGD		protein:decreased expression:prefrontal cortex layers 2-5	PMID:18534564|REF_RGD_ID:6480428
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:730853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:4362	cervical cancer		ISO	RGD:730853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:5419	schizophrenia		ISO	RGD:730853	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15560956|PMID:17942719|PMID:18923069|PMID:19110320
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:5419	schizophrenia		ISO	RGD:730853	D	RGD:9068941	20200609	RGD		protein:decreased expression:prefrontal cortex layers 2-5	PMID:18534564|REF_RGD_ID:6480428
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:5419	schizophrenia		ISO	RGD:730853	D	RGD:9068941	20200609	RGD		protein:increased expression:posterior subiculum, parahippocampal gyrus	PMID:21250934|REF_RGD_ID:6480427
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:5419	schizophrenia	no_association	ISO	RGD:730853	D	RGD:9068941	20200609	RGD		DNA:snp(s)::Japanese population	PMID:17303389|REF_RGD_ID:6480430
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:5419	schizophrenia	onset	ISO	RGD:730853	D	RGD:9068941	20240613	RGD			PMID:17942719|REF_RGD_ID:405855845
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:630	genetic disease		ISO	RGD:730853	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:28832565
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:670	amphetamine abuse	susceptibility	ISO	RGD:730853	D	RGD:9068941	20231109	RGD		DNA:haplotype: :rs769404���rs701492(human)	PMID:27967329|REF_RGD_ID:401900122
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2652	D	RGD:9068941	20240606	RGD		protein:increased expression:dorsal horn of spinal cord	PMID:27277808|REF_RGD_ID:405850240
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:730853	D	RGD:9068941	20240601	RGD			PMID:26752351|REF_RGD_ID:405850208
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:2652	D	RGD:9068941	20231230	RGD			PMID:22428005|REF_RGD_ID:401940127
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:9004548	Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities		ISO	RGD:730853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 1 | ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:28832565|PMID:32282878|PMID:32705143|PMID:9536098
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:9004798	Drug Resistant Epilepsy		ISO	RGD:730853	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intractable epilepsy	PMID:25741868
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:730853	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22253714
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:9008394	Drug-Induced Dyskinesia		ISO	RGD:730853	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9767399
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:730853	D	RGD:9068941	20220217	RGD		mRNA:increased expression:colon (human)	PMID:26549033|REF_RGD_ID:151356759
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:2652	D	RGD:9068941	20200609	RGD			PMID:1924335|REF_RGD_ID:728511
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:9975	cocaine dependence		ISO	RGD:730853	D	RGD:9068941	20231109	RGD		mRNA:decreased expression:hippocampus	PMID:22253714|REF_RGD_ID:401900163
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:9976	heroin dependence	susceptibility	ISO	RGD:730853	D	RGD:9068941	20231109	RGD		DNA:SNP,haplotype: :rs2058725(human)	PMID:19500151|REF_RGD_ID:5509583
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:9976	heroin dependence	susceptibility	ISO	RGD:730853	D	RGD:9068941	20231109	RGD		DNA:SNPs,haplotypes:promoter,exon:rs1978340, rs3791878, rs11542313 (human)	PMID:22564729|REF_RGD_ID:401900156
8724977	Gad1	glutamate decarboxylase 1	gene	DOID:9976	heroin dependence	treatment	ISO	RGD:730853	D	RGD:9068941	20231109	RGD		DNA:SNPs, haplotype:multiple:	PMID:31866536|REF_RGD_ID:401900128
8724999	Naa11	N-alpha-acetyltransferase 11, NatA catalytic subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1625645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8725008	Slc25a19	solute carrier family 25 member 19	gene	DOID:10907	microcephaly		ISO	RGD:1343771	D	RGD:9068941	20200609	RGD		Microcephaly, Amish type, OMIM:607196;DNA:point mutation:exon:G177A	PMID:12185364|REF_RGD_ID:1624242
8725008	Slc25a19	solute carrier family 25 member 19	gene	DOID:3650	lactic acidosis		ISO	RGD:1343771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868
8725008	Slc25a19	solute carrier family 25 member 19	gene	DOID:4362	cervical cancer		ISO	RGD:1343771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8725008	Slc25a19	solute carrier family 25 member 19	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8725008	Slc25a19	solute carrier family 25 member 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725008	Slc25a19	solute carrier family 25 member 19	gene	DOID:630	genetic disease		ISO	RGD:1343771	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:28492532
8725008	Slc25a19	solute carrier family 25 member 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8725008	Slc25a19	solute carrier family 25 member 19	gene	DOID:9000348	Confusion		ISO	RGD:1343771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Confusion	PMID:25741868
8725008	Slc25a19	solute carrier family 25 member 19	gene	DOID:9000590	Dyspnea		ISO	RGD:1343771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:25741868
8725008	Slc25a19	solute carrier family 25 member 19	gene	DOID:9002554	Tachycardia		ISO	RGD:1343771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:25741868
8725008	Slc25a19	solute carrier family 25 member 19	gene	DOID:9004450	Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)		ISO	RGD:1343771	D	RGD:7240710	20180130	OMIM			
8725008	Slc25a19	solute carrier family 25 member 19	gene	DOID:9004450	Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)		ISO	RGD:1343771	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE)	PMID:25741868|PMID:28492532
8725008	Slc25a19	solute carrier family 25 member 19	gene	DOID:9006375	Amish Lethal Microcephaly		ISO	RGD:1343771	D	RGD:7240710	20180130	OMIM			
8725008	Slc25a19	solute carrier family 25 member 19	gene	DOID:9006375	Amish Lethal Microcephaly		ISO	RGD:1343771	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Amish lethal microcephaly | ClinVar Annotator: match by term: MICROCEPHALY, AMISH TYPE | ClinVar Annotator: match by term: Microcephaly, Amish type | ClinVar Annotator: match by term: SLC25A19-related condition	PMID:25741868|PMID:28492532
8725008	Slc25a19	solute carrier family 25 member 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8725008	Slc25a19	solute carrier family 25 member 19	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8725008	Slc25a19	solute carrier family 25 member 19	gene	DOID:9351	diabetes mellitus		ISO	RGD:1343771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:25741868
8725027	Tead4	TEA domain transcription factor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725027	Tead4	TEA domain transcription factor 4	gene	DOID:1324	lung cancer		ISO	RGD:1605719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8725027	Tead4	TEA domain transcription factor 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8725027	Tead4	TEA domain transcription factor 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1605719	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8725027	Tead4	TEA domain transcription factor 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8725027	Tead4	TEA domain transcription factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725027	Tead4	TEA domain transcription factor 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8725027	Tead4	TEA domain transcription factor 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8725027	Tead4	TEA domain transcription factor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8725054	Ap2m1	adaptor related protein complex 2 subunit mu 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725054	Ap2m1	adaptor related protein complex 2 subunit mu 1	gene	DOID:0061050	autosomal dominant intellectual developmental disorder 60 with seizures		ISO	RGD:1350921	D	RGD:7240710	20191002	OMIM			
8725054	Ap2m1	adaptor related protein complex 2 subunit mu 1	gene	DOID:0061050	autosomal dominant intellectual developmental disorder 60 with seizures		ISO	RGD:1350921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AP2M1-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder 60 with seizures	PMID:17576681|PMID:25741868|PMID:28492532|PMID:31104773|PMID:34321325|PMID:37393044|PMID:9536098
8725054	Ap2m1	adaptor related protein complex 2 subunit mu 1	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1350921	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: complex neurodevelopmental disorder	PMID:25741868|PMID:28492532
8725054	Ap2m1	adaptor related protein complex 2 subunit mu 1	gene	DOID:10534	stomach cancer		ISO	RGD:1350921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8725054	Ap2m1	adaptor related protein complex 2 subunit mu 1	gene	DOID:1059	intellectual disability		ISO	RGD:1350921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:31104773|PMID:37393044
8725054	Ap2m1	adaptor related protein complex 2 subunit mu 1	gene	DOID:12849	autistic disorder		ISO	RGD:1350921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532|PMID:31104773|PMID:37393044
8725054	Ap2m1	adaptor related protein complex 2 subunit mu 1	gene	DOID:1324	lung cancer		ISO	RGD:1350921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8725054	Ap2m1	adaptor related protein complex 2 subunit mu 1	gene	DOID:1826	epilepsy		ISO	RGD:1350921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:31104773|PMID:37393044
8725054	Ap2m1	adaptor related protein complex 2 subunit mu 1	gene	DOID:255	hemangioma		ISO	RGD:1350921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:25741868
8725054	Ap2m1	adaptor related protein complex 2 subunit mu 1	gene	DOID:3275	thymoma		ISO	RGD:1350921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8725054	Ap2m1	adaptor related protein complex 2 subunit mu 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8725054	Ap2m1	adaptor related protein complex 2 subunit mu 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725054	Ap2m1	adaptor related protein complex 2 subunit mu 1	gene	DOID:630	genetic disease		ISO	RGD:1350921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31104773|PMID:37393044
8725054	Ap2m1	adaptor related protein complex 2 subunit mu 1	gene	DOID:674	cleft palate		ISO	RGD:1350921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
8725054	Ap2m1	adaptor related protein complex 2 subunit mu 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8725054	Ap2m1	adaptor related protein complex 2 subunit mu 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350921	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8725054	Ap2m1	adaptor related protein complex 2 subunit mu 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8725054	Ap2m1	adaptor related protein complex 2 subunit mu 1	gene	DOID:9976	heroin dependence		ISO	RGD:620135	D	RGD:9068941	20241205	RGD		protein:increased expression:medial prefrontal cortex (rat)	PMID:19160503|REF_RGD_ID:529195970
8725080	Nfatc4	nuclear factor of activated T cells 4	gene	DOID:10534	stomach cancer		ISO	RGD:1321836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8725080	Nfatc4	nuclear factor of activated T cells 4	gene	DOID:1115	sarcoma		ISO	RGD:1321836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8725080	Nfatc4	nuclear factor of activated T cells 4	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1321836	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.G160A (human)	PMID:12939651|REF_RGD_ID:1580248
8725080	Nfatc4	nuclear factor of activated T cells 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725080	Nfatc4	nuclear factor of activated T cells 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8725080	Nfatc4	nuclear factor of activated T cells 4	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1321836	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:9568714|REF_RGD_ID:1579956
8725080	Nfatc4	nuclear factor of activated T cells 4	gene	DOID:9005968	Neuralgia	treatment	ISO	RGD:1310749	D	RGD:9068941	20230427	RGD			PMID:23386250|REF_RGD_ID:329337338
8725080	Nfatc4	nuclear factor of activated T cells 4	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:1321836	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:9568714|REF_RGD_ID:1579956
8725080	Nfatc4	nuclear factor of activated T cells 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8725080	Nfatc4	nuclear factor of activated T cells 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1321836	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: therapeutic	PMID:34192554
8725099	Dbn1	drebrin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8725099	Dbn1	drebrin 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732725	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampal formation:	PMID:8838578|REF_RGD_ID:10395286
8725099	Dbn1	drebrin 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737436	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus,neuronal spine:	PMID:17912741|REF_RGD_ID:10398820
8725099	Dbn1	drebrin 1	gene	DOID:10652	Alzheimer's disease	disease_progression	ISO	RGD:732725	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:parietal cortex, temporal cortex, hippocampus:	PMID:18338803|REF_RGD_ID:10398821
8725099	Dbn1	drebrin 1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:70885	D	RGD:9068941	20200609	RGD		protein:increased expression:neuron:	PMID:11578820|REF_RGD_ID:10398813
8725099	Dbn1	drebrin 1	gene	DOID:1324	lung cancer		ISO	RGD:732725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8725099	Dbn1	drebrin 1	gene	DOID:14250	Down syndrome		ISO	RGD:732725	D	RGD:9068941	20200609	RGD		protein:decreased expression:frontal cortex, temporal cortex:	PMID:12009525|REF_RGD_ID:10398822
8725099	Dbn1	drebrin 1	gene	DOID:14330	Parkinson's disease	treatment	ISO	RGD:70885	D	RGD:9068941	20200609	RGD		levodopainduced; protein:increased expression:striatum:	PMID:23241013|REF_RGD_ID:10398811
8725099	Dbn1	drebrin 1	gene	DOID:1561	cognitive disorder		ISO	RGD:70885	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:21440628|REF_RGD_ID:10398818
8725099	Dbn1	drebrin 1	gene	DOID:1561	cognitive disorder		ISO	RGD:732725	D	RGD:9068941	20200609	RGD		protein:altered expression:superior temporal cortex, superior temporal cortex:	PMID:16783169|REF_RGD_ID:10398823
8725099	Dbn1	drebrin 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:70885	D	RGD:9068941	20200609	RGD			PMID:8583659|REF_RGD_ID:10398814
8725099	Dbn1	drebrin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8725099	Dbn1	drebrin 1	gene	DOID:3070	high grade glioma		ISO	RGD:732725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8725099	Dbn1	drebrin 1	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:70885	D	RGD:9068941	20200609	RGD		mRNA,protein:altered expression:hippocampus:	PMID:21240918|REF_RGD_ID:10398806
8725099	Dbn1	drebrin 1	gene	DOID:4362	cervical cancer		ISO	RGD:732725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8725099	Dbn1	drebrin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8725099	Dbn1	drebrin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:732725	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8725099	Dbn1	drebrin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725099	Dbn1	drebrin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8725099	Dbn1	drebrin 1	gene	DOID:8927	learning disability		ISO	RGD:737436	D	RGD:9068941	20200609	RGD			PMID:19837137|REF_RGD_ID:10398819
8725099	Dbn1	drebrin 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8725099	Dbn1	drebrin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8725099	Dbn1	drebrin 1	gene	DOID:9008394	Drug-Induced Dyskinesia		ISO	RGD:70885	D	RGD:9068941	20200609	RGD		levodopainduced; protein:increased expression:striatum:	PMID:23241013|REF_RGD_ID:10398811
8725099	Dbn1	drebrin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8725117	Rftn1	raftlin, lipid raft linker 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8725117	Rftn1	raftlin, lipid raft linker 1	gene	DOID:1686	glaucoma		ISO	RGD:1563347	D	RGD:9068941	20221027	RGD		mRNA:increased expression:optic nerve head (rat)	PMID:28990066|REF_RGD_ID:155630605
8725117	Rftn1	raftlin, lipid raft linker 1	gene	DOID:1686	glaucoma		ISO	RGD:1604380	D	RGD:9068941	20221027	RGD		mRNA:increased expression:optic nerve head (human)	PMID:28990066|REF_RGD_ID:155630605
8725117	Rftn1	raftlin, lipid raft linker 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8725117	Rftn1	raftlin, lipid raft linker 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725117	Rftn1	raftlin, lipid raft linker 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8725136	Ankrd34a	ankyrin repeat domain 34A	gene	DOID:0060058	lymphoma		ISO	RGD:1347090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8725136	Ankrd34a	ankyrin repeat domain 34A	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1347090	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
8725146	Spef1	sperm flagellar and cilia associated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725146	Spef1	sperm flagellar and cilia associated 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8725146	Spef1	sperm flagellar and cilia associated 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8725157	Cenpq	centromere protein Q	gene	DOID:1115	sarcoma		ISO	RGD:1344338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8725157	Cenpq	centromere protein Q	gene	DOID:1324	lung cancer		ISO	RGD:1344338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8725157	Cenpq	centromere protein Q	gene	DOID:1909	melanoma		ISO	RGD:1344338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8725157	Cenpq	centromere protein Q	gene	DOID:4362	cervical cancer		ISO	RGD:1344338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8725157	Cenpq	centromere protein Q	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725157	Cenpq	centromere protein Q	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8725170	Tesk2	testis associated actin remodelling kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725170	Tesk2	testis associated actin remodelling kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:734237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8725170	Tesk2	testis associated actin remodelling kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8725170	Tesk2	testis associated actin remodelling kinase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:734237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8725170	Tesk2	testis associated actin remodelling kinase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:734237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8725170	Tesk2	testis associated actin remodelling kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725170	Tesk2	testis associated actin remodelling kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8725170	Tesk2	testis associated actin remodelling kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8725192	Ttc24	tetratricopeptide repeat domain 24	gene	DOID:4362	cervical cancer		ISO	RGD:1602975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8725192	Ttc24	tetratricopeptide repeat domain 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725192	Ttc24	tetratricopeptide repeat domain 24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8725192	Ttc24	tetratricopeptide repeat domain 24	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8725212	Sugp2	SURP and G-patch domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8725212	Sugp2	SURP and G-patch domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725212	Sugp2	SURP and G-patch domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8725212	Sugp2	SURP and G-patch domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8725212	Sugp2	SURP and G-patch domain containing 2	gene	DOID:3070	high grade glioma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8725212	Sugp2	SURP and G-patch domain containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8725212	Sugp2	SURP and G-patch domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8725212	Sugp2	SURP and G-patch domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314432	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8725212	Sugp2	SURP and G-patch domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8725212	Sugp2	SURP and G-patch domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314432	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8725212	Sugp2	SURP and G-patch domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8725212	Sugp2	SURP and G-patch domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725212	Sugp2	SURP and G-patch domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8725212	Sugp2	SURP and G-patch domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8725229	Slc5a7	solute carrier family 5 member 7	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1348839	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2	PMID:25741868|PMID:30192042
8725229	Slc5a7	solute carrier family 5 member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725229	Slc5a7	solute carrier family 5 member 7	gene	DOID:0110661	congenital myasthenic syndrome 20		ISO	RGD:1348839	D	RGD:7240710	20190315	OMIM			
8725229	Slc5a7	solute carrier family 5 member 7	gene	DOID:0110661	congenital myasthenic syndrome 20		ISO	RGD:1348839	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 20 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 20, presynaptic | ClinVar Annotator: match by term: SLC5A7-related condition	PMID:15173594|PMID:16199547|PMID:17576681|PMID:22941189|PMID:23141292|PMID:25741868|PMID:27569547|PMID:28492532|PMID:36611016|PMID:36840359|PMID:39135055|PMID:9536098
8725229	Slc5a7	solute carrier family 5 member 7	gene	DOID:0111199	autosomal dominant distal hereditary motor neuronopathy 7		ISO	RGD:1348839	D	RGD:7240710	20180130	OMIM			
8725229	Slc5a7	solute carrier family 5 member 7	gene	DOID:0111199	autosomal dominant distal hereditary motor neuronopathy 7		ISO	RGD:1348839	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VIIA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 7 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia	PMID:17576681|PMID:25741868|PMID:27569547|PMID:28492532|PMID:33250374|PMID:36703223|PMID:36840359|PMID:9536098
8725229	Slc5a7	solute carrier family 5 member 7	gene	DOID:10283	prostate cancer		ISO	RGD:1348839	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8725229	Slc5a7	solute carrier family 5 member 7	gene	DOID:10283	prostate cancer		ISO	RGD:1348839	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8725229	Slc5a7	solute carrier family 5 member 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8725229	Slc5a7	solute carrier family 5 member 7	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1348839	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Distal spinal muscular atrophy	PMID:28492532
8725229	Slc5a7	solute carrier family 5 member 7	gene	DOID:1470	major depressive disorder		ISO	RGD:1348839	D	RGD:9068941	20220128	RGD		mRNA:decreased expression:habenula:	PMID:28420875|REF_RGD_ID:151347550
8725229	Slc5a7	solute carrier family 5 member 7	gene	DOID:1596	depressive disorder		ISO	RGD:1348839	D	RGD:9068941	20220128	RGD		mRNA:decreased expression:habenula:	PMID:28420875|REF_RGD_ID:151347550
8725229	Slc5a7	solute carrier family 5 member 7	gene	DOID:2841	asthma		ISO	RGD:69270	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung	PMID:17328924|REF_RGD_ID:5686690
8725229	Slc5a7	solute carrier family 5 member 7	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:1348839	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8725229	Slc5a7	solute carrier family 5 member 7	gene	DOID:630	genetic disease		ISO	RGD:1348839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:27569547|PMID:28492532|PMID:36840359|PMID:9536098
8725229	Slc5a7	solute carrier family 5 member 7	gene	DOID:9004283	Transplant Rejection		ISO	RGD:69270	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney, mononuclear cell	PMID:19201987|REF_RGD_ID:9999387
8725240	Usp32	ubiquitin specific peptidase 32	gene	DOID:10534	stomach cancer		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
8725240	Usp32	ubiquitin specific peptidase 32	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8725240	Usp32	ubiquitin specific peptidase 32	gene	DOID:1115	sarcoma		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8725240	Usp32	ubiquitin specific peptidase 32	gene	DOID:3275	thymoma		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8725240	Usp32	ubiquitin specific peptidase 32	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1315395	D	RGD:9068941	20221215	CTD		CTD Direct Evidence: marker/mechanism	PMID:28811376
8725240	Usp32	ubiquitin specific peptidase 32	gene	DOID:4362	cervical cancer		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8725240	Usp32	ubiquitin specific peptidase 32	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8725240	Usp32	ubiquitin specific peptidase 32	gene	DOID:5041	esophageal cancer		ISO	RGD:1315395	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8725240	Usp32	ubiquitin specific peptidase 32	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725240	Usp32	ubiquitin specific peptidase 32	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8725240	Usp32	ubiquitin specific peptidase 32	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8725240	Usp32	ubiquitin specific peptidase 32	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8725240	Usp32	ubiquitin specific peptidase 32	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8725240	Usp32	ubiquitin specific peptidase 32	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8725240	Usp32	ubiquitin specific peptidase 32	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8725278	Kif21b	kinesin family member 21B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8725278	Kif21b	kinesin family member 21B	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1343896	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868
8725278	Kif21b	kinesin family member 21B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725278	Kif21b	kinesin family member 21B	gene	DOID:10534	stomach cancer		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8725278	Kif21b	kinesin family member 21B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8725278	Kif21b	kinesin family member 21B	gene	DOID:1115	sarcoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8725278	Kif21b	kinesin family member 21B	gene	DOID:1324	lung cancer		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8725278	Kif21b	kinesin family member 21B	gene	DOID:2316	brain ischemia		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral ischemia	PMID:25741868
8725278	Kif21b	kinesin family member 21B	gene	DOID:2843	long QT syndrome		ISO	RGD:1343896	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8725278	Kif21b	kinesin family member 21B	gene	DOID:3070	high grade glioma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8725278	Kif21b	kinesin family member 21B	gene	DOID:3275	thymoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8725278	Kif21b	kinesin family member 21B	gene	DOID:4362	cervical cancer		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8725278	Kif21b	kinesin family member 21B	gene	DOID:5041	esophageal cancer		ISO	RGD:1343896	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8725278	Kif21b	kinesin family member 21B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725278	Kif21b	kinesin family member 21B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8725278	Kif21b	kinesin family member 21B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8725278	Kif21b	kinesin family member 21B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8725278	Kif21b	kinesin family member 21B	gene	DOID:8577	ulcerative colitis		ISO	RGD:1343896	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20228799
8725278	Kif21b	kinesin family member 21B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8725278	Kif21b	kinesin family member 21B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343896	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KIF21B-related Neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:32415109
8725278	Kif21b	kinesin family member 21B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8725278	Kif21b	kinesin family member 21B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8725278	Kif21b	kinesin family member 21B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8725329	Golph3l	golgi phosphoprotein 3 like	gene	DOID:1909	melanoma		ISO	RGD:1347625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8725329	Golph3l	golgi phosphoprotein 3 like	gene	DOID:3275	thymoma		ISO	RGD:1347625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8725329	Golph3l	golgi phosphoprotein 3 like	gene	DOID:4362	cervical cancer		ISO	RGD:1347625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8725329	Golph3l	golgi phosphoprotein 3 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1347625	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8725329	Golph3l	golgi phosphoprotein 3 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725341	Qtrt1	queuine tRNA-ribosyltransferase catalytic subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8725341	Qtrt1	queuine tRNA-ribosyltransferase catalytic subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725341	Qtrt1	queuine tRNA-ribosyltransferase catalytic subunit 1	gene	DOID:0060058	lymphoma		ISO	RGD:732681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8725341	Qtrt1	queuine tRNA-ribosyltransferase catalytic subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:732681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8725341	Qtrt1	queuine tRNA-ribosyltransferase catalytic subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:732681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8725341	Qtrt1	queuine tRNA-ribosyltransferase catalytic subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:732681	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8725341	Qtrt1	queuine tRNA-ribosyltransferase catalytic subunit 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8725341	Qtrt1	queuine tRNA-ribosyltransferase catalytic subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8725341	Qtrt1	queuine tRNA-ribosyltransferase catalytic subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8725341	Qtrt1	queuine tRNA-ribosyltransferase catalytic subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8725364	Irx5	iroquois homeobox 5	gene	DOID:0050642	hypochromic microcytic anemia		ISO	RGD:1320389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
8725364	Irx5	iroquois homeobox 5	gene	DOID:0050823	third-degree atrioventricular block		ISO	RGD:1320389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Third degree atrioventricular block	
8725364	Irx5	iroquois homeobox 5	gene	DOID:0081044	frontonasal dysplasia		ISO	RGD:1320389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
8725364	Irx5	iroquois homeobox 5	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1320389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
8725364	Irx5	iroquois homeobox 5	gene	DOID:1115	sarcoma		ISO	RGD:1320389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8725364	Irx5	iroquois homeobox 5	gene	DOID:11830	myopia		ISO	RGD:1320389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
8725364	Irx5	iroquois homeobox 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1320389	D	RGD:9068941	20230706	RGD		mRNA:increased expression:heart left ventricle (human)	PMID:16753336|REF_RGD_ID:329950575
8725364	Irx5	iroquois homeobox 5	gene	DOID:13714	anodontia		ISO	RGD:1320389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
8725364	Irx5	iroquois homeobox 5	gene	DOID:1400	lacrimal apparatus disease		ISO	RGD:1320389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
8725364	Irx5	iroquois homeobox 5	gene	DOID:1682	congenital heart disease		ISO	RGD:1320389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
8725364	Irx5	iroquois homeobox 5	gene	DOID:630	genetic disease		ISO	RGD:1320389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8725364	Irx5	iroquois homeobox 5	gene	DOID:850	lung disease		ISO	RGD:1320389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21238641
8725364	Irx5	iroquois homeobox 5	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1320389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	
8725364	Irx5	iroquois homeobox 5	gene	DOID:9002589	Bone Fractures		ISO	RGD:1320389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
8725364	Irx5	iroquois homeobox 5	gene	DOID:9006817	Hamamy Syndrome		ISO	RGD:1320389	D	RGD:7240710	20180130	OMIM			
8725364	Irx5	iroquois homeobox 5	gene	DOID:9006817	Hamamy Syndrome		ISO	RGD:1320389	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HAMAMY SYNDROME | ClinVar Annotator: match by term: Hamamy syndrome | ClinVar Annotator: match by term: IRX5-related condition	PMID:25741868|PMID:28492532
8725364	Irx5	iroquois homeobox 5	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1320389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
8725372	Samd10	sterile alpha motif domain containing 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8725372	Samd10	sterile alpha motif domain containing 10	gene	DOID:1115	sarcoma		ISO	RGD:1351691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8725372	Samd10	sterile alpha motif domain containing 10	gene	DOID:1909	melanoma		ISO	RGD:1351691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8725372	Samd10	sterile alpha motif domain containing 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8725421	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8725421	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725421	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:10534	stomach cancer		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8725421	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:1115	sarcoma		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8725421	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:1324	lung cancer		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8725421	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:1909	melanoma		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8725421	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8725421	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313616	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8725421	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8725421	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:5041	esophageal cancer		ISO	RGD:1313616	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8725421	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8725421	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725421	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8725421	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8725421	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8725421	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8725473	F5	coagulation factor V	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:1344593	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25200834
8725473	F5	coagulation factor V	gene	DOID:0050860	colorectal adenoma		ISO	RGD:1344593	D	RGD:9068941	20210115	RGD		protein:increased expression:serum	PMID:30971492|REF_RGD_ID:40907058
8725473	F5	coagulation factor V	gene	DOID:0050864	non-arteritic anterior ischemic optic neuropathy		ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.R506Q (1691G>A) (human)	PMID:15043529|REF_RGD_ID:7394764
8725473	F5	coagulation factor V	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725473	F5	coagulation factor V	gene	DOID:0051061	stroke		ISO	RGD:1344593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CEREBROVASCULAR ACCIDENT	PMID:11950065|PMID:12816860|PMID:16199547|PMID:16246256|PMID:25741868|PMID:28492532|PMID:30924984|PMID:31399523|PMID:34355501
8725473	F5	coagulation factor V	gene	DOID:0051062	ischemic stroke		ISO	RGD:1344593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ischemic stroke	PMID:11950065|PMID:12816860|PMID:16199547|PMID:16246256|PMID:25741868|PMID:28492532|PMID:30924984|PMID:31399523|PMID:34355501
8725473	F5	coagulation factor V	gene	DOID:0060903	thrombosis		ISO	RGD:1344593	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Thrombosis	PMID:25741868
8725473	F5	coagulation factor V	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1344593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532|PMID:34355501
8725473	F5	coagulation factor V	gene	DOID:0080600	COVID-19		ISO	RGD:1344593	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8725473	F5	coagulation factor V	gene	DOID:0111902	thrombophilia due to activated protein C resistance		ISO	RGD:1344593	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: APC resistance | ClinVar Annotator: match by term: Activated protein C resistance | ClinVar Annotator: match by term: Hereditary Resistance to Activated Protein C | ClinVar Annotator: match by term: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE | ClinVar Annotator: match by term: Thrombophilia due to activated protein C resistance	PMID:11950065|PMID:12091344|PMID:12816860|PMID:16199547|PMID:16246256|PMID:25741868|PMID:28492532|PMID:30924984|PMID:31399523|PMID:34272389|PMID:34355501|PMID:9454741|PMID:9454742
8725473	F5	coagulation factor V	gene	DOID:0111902	thrombophilia due to activated protein C resistance	susceptibility	ISO	RGD:1344593	D	RGD:7240710	20260701	OMIM			
8725473	F5	coagulation factor V	gene	DOID:0111907	thrombophilia due to thrombin defect		ISO	RGD:1344593	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT	PMID:11950065|PMID:16246256|PMID:25741868|PMID:28492532|PMID:34355501
8725473	F5	coagulation factor V	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		DNA:mutation	PMID:16015153|REF_RGD_ID:7387260
8725473	F5	coagulation factor V	gene	DOID:10003	sensorineural hearing loss	no_association	ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		DNA:SNP: :1691G>A (human)	PMID:16572609|REF_RGD_ID:7387240
8725473	F5	coagulation factor V	gene	DOID:10283	prostate cancer		ISO	RGD:1344593	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8725473	F5	coagulation factor V	gene	DOID:10283	prostate cancer		ISO	RGD:1344593	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8725473	F5	coagulation factor V	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1344593	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
8725473	F5	coagulation factor V	gene	DOID:10534	stomach cancer		ISO	RGD:1344593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8725473	F5	coagulation factor V	gene	DOID:10591	pre-eclampsia	severity	ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		DNA:mutation: :1691G>A(human)	PMID:16246971|REF_RGD_ID:6893628
8725473	F5	coagulation factor V	gene	DOID:10762	portal hypertension		ISO	RGD:10557	D	RGD:9068941	20200609	RGD		associated with Acute Hepatitis;protein:decreased expression:serum (human)	PMID:2777210|REF_RGD_ID:14700665
8725473	F5	coagulation factor V	gene	DOID:10762	portal hypertension		ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		associated with Acute Hepatitis;protein:decreased expression:serum (human)	PMID:2777210|REF_RGD_ID:14700665
8725473	F5	coagulation factor V	gene	DOID:10762	portal hypertension		ISO	RGD:1589758	D	RGD:9068941	20200609	RGD		associated with Acute Hepatitis;protein:decreased expression:serum (human)	PMID:2777210|REF_RGD_ID:14700665
8725473	F5	coagulation factor V	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8725473	F5	coagulation factor V	gene	DOID:11512	Budd-Chiari syndrome		ISO	RGD:1344593	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Budd-Chiari syndrome	PMID:11950065|PMID:12816860|PMID:16199547|PMID:16246256|PMID:25741868|PMID:28492532|PMID:30924984|PMID:31399523|PMID:34355501
8725473	F5	coagulation factor V	gene	DOID:11512	Budd-Chiari syndrome	disease_progression	ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:R506Q (human)	PMID:26238013|REF_RGD_ID:11537993
8725473	F5	coagulation factor V	gene	DOID:11512	Budd-Chiari syndrome	severity	ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		Factor V Leiden;DNA:missense mutation:cds:G1691A (human)	PMID:29771426|REF_RGD_ID:14700660
8725473	F5	coagulation factor V	gene	DOID:11512	Budd-Chiari syndrome	severity	ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human)	PMID:16825912|REF_RGD_ID:14700661
8725473	F5	coagulation factor V	gene	DOID:11512	Budd-Chiari syndrome	susceptibility	ISO	RGD:1344593	D	RGD:7240710	20260701	OMIM			
8725473	F5	coagulation factor V	gene	DOID:1247	blood coagulation disease		ISO	RGD:1344593	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17721328
8725473	F5	coagulation factor V	gene	DOID:13241	Behcet's disease	no_association	ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		DNA:mutation: :1691G>A (human)	PMID:15077257|REF_RGD_ID:7394769
8725473	F5	coagulation factor V	gene	DOID:1588	thrombocytopenia		ISO	RGD:1344593	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:28492532|PMID:34355501
8725473	F5	coagulation factor V	gene	DOID:1612	breast cancer		ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:25407022|REF_RGD_ID:10449101
8725473	F5	coagulation factor V	gene	DOID:1612	breast cancer	no_association	ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs6025 (human)	PMID:25407022|REF_RGD_ID:10449101
8725473	F5	coagulation factor V	gene	DOID:1727	retinal vein occlusion		ISO	RGD:1344593	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12022286
8725473	F5	coagulation factor V	gene	DOID:1727	retinal vein occlusion		ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		associated with Behcet Syndrome;DNA:missense mutation:cds:p.R506Q (human)	PMID:10511031|REF_RGD_ID:7394767
8725473	F5	coagulation factor V	gene	DOID:1727	retinal vein occlusion	no_association	ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:1691G>A (human)	PMID:10634550|REF_RGD_ID:7394773
8725473	F5	coagulation factor V	gene	DOID:1727	retinal vein occlusion	onset	ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:1691G>A (human)	PMID:16113792|REF_RGD_ID:7394778
8725473	F5	coagulation factor V	gene	DOID:1826	epilepsy		ISO	RGD:1344593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:9576178
8725473	F5	coagulation factor V	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1344593	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501
8725473	F5	coagulation factor V	gene	DOID:2216	factor V deficiency		ISO	RGD:1344593	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FACTOR V DEFICIENCY | ClinVar Annotator: match by term: Factor V deficiency | ClinVar Annotator: match by term: PARAHEMOPHILIA	PMID:10942390|PMID:11418372|PMID:11781258|PMID:11950065|PMID:12816860|PMID:16199547|PMID:16246256|PMID:16476093|PMID:19486170|PMID:20546033|PMID:20735394|PMID:22044617|PMID:24033266|PMID:24517203|PMID:25741868|PMID:28492532|PMID:29652992|PMID:30924984|PMID:31064749|PMID:31268865|PMID:31399523|PMID:32833806|PMID:33979974|PMID:34280927|PMID:34355501|PMID:3457586|PMID:34575869|PMID:37150682|PMID:9576178|PMID:9694743
8725473	F5	coagulation factor V	gene	DOID:2216	factor V deficiency	susceptibility	ISO	RGD:1344593	D	RGD:7240710	20260701	OMIM			
8725473	F5	coagulation factor V	gene	DOID:2237	hepatitis	severity	ISO	RGD:10557	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma (human)	PMID:15340576|REF_RGD_ID:14700682
8725473	F5	coagulation factor V	gene	DOID:2237	hepatitis	severity	ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma (human)	PMID:15340576|REF_RGD_ID:14700682
8725473	F5	coagulation factor V	gene	DOID:2237	hepatitis	severity	ISO	RGD:1589758	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma (human)	PMID:15340576|REF_RGD_ID:14700682
8725473	F5	coagulation factor V	gene	DOID:2237	hepatitis	treatment	ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		protein:increased expression (human)	PMID:1903342|REF_RGD_ID:14700657
8725473	F5	coagulation factor V	gene	DOID:2316	brain ischemia		ISO	RGD:1344593	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15534175
8725473	F5	coagulation factor V	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8725473	F5	coagulation factor V	gene	DOID:2394	ovarian cancer		ISO	RGD:1344593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8725473	F5	coagulation factor V	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:1589758	D	RGD:9068941	20200609	RGD			PMID:15172885|REF_RGD_ID:1601118
8725473	F5	coagulation factor V	gene	DOID:3070	high grade glioma		ISO	RGD:1344593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:28492532|PMID:29082580|PMID:30924984
8725473	F5	coagulation factor V	gene	DOID:3526	cerebral infarction		ISO	RGD:1344593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ischemic stroke, susceptibility to	PMID:11950065|PMID:12816860|PMID:16199547|PMID:16246256|PMID:25741868|PMID:28492532|PMID:30924984|PMID:31399523|PMID:34355501
8725473	F5	coagulation factor V	gene	DOID:3526	cerebral infarction	susceptibility	ISO	RGD:1344593	D	RGD:7240710	20260701	OMIM			
8725473	F5	coagulation factor V	gene	DOID:3576	sagittal sinus thrombosis		ISO	RGD:1344593	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18382986
8725473	F5	coagulation factor V	gene	DOID:3770	pulmonary fibrosis	severity	ISO	RGD:10557	D	RGD:9068941	20200609	RGD			PMID:11307811|REF_RGD_ID:11564339
8725473	F5	coagulation factor V	gene	DOID:4362	cervical cancer		ISO	RGD:1344593	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8725473	F5	coagulation factor V	gene	DOID:5041	esophageal cancer		ISO	RGD:1344593	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8725473	F5	coagulation factor V	gene	DOID:5082	liver cirrhosis		ISO	RGD:1344593	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18485088
8725473	F5	coagulation factor V	gene	DOID:5082	liver cirrhosis	disease_progression	ISO	RGD:1344593	D	RGD:9068941	20200609	RGD			PMID:10520855|REF_RGD_ID:14700663
8725473	F5	coagulation factor V	gene	DOID:5082	liver cirrhosis	susceptibility	ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		associated with liver fibrosis, Factor V Leiden;DNA:missense mutation:cds:rs6025 (human)	PMID:26226452|REF_RGD_ID:14700659
8725473	F5	coagulation factor V	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8725473	F5	coagulation factor V	gene	DOID:5844	myocardial infarction		ISO	RGD:1344593	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9531249
8725473	F5	coagulation factor V	gene	DOID:5844	myocardial infarction	no_association	ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:1691G>A (human)	PMID:10590188|REF_RGD_ID:11564337
8725473	F5	coagulation factor V	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:1691G>A (human)	PMID:15131548|REF_RGD_ID:11564335
8725473	F5	coagulation factor V	gene	DOID:630	genetic disease		ISO	RGD:1344593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:34355501
8725473	F5	coagulation factor V	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		Chronic thromboembolic pulmonary hypertension (CTEPH)	PMID:20182352|REF_RGD_ID:4892669
8725473	F5	coagulation factor V	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8725473	F5	coagulation factor V	gene	DOID:783	end stage renal disease		ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		DNA:mutation: :1691G>A(human)	PMID:19520684|REF_RGD_ID:6893522
8725473	F5	coagulation factor V	gene	DOID:8483	retinal artery occlusion	no_association	ISO	RGD:1344593	D	RGD:9068941	20200609	RGD			PMID:12928685|REF_RGD_ID:1580362
8725473	F5	coagulation factor V	gene	DOID:9000590	Dyspnea		ISO	RGD:1344593	D	RGD:9068941	20200609	RGD			PMID:16186475|REF_RGD_ID:4892656
8725473	F5	coagulation factor V	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:1589758	D	RGD:9068941	20200609	RGD			PMID:17431769|REF_RGD_ID:7394781
8725473	F5	coagulation factor V	gene	DOID:9001722	Dysarthria		ISO	RGD:1344593	D	RGD:9068941	20200609	RGD			PMID:15026880|REF_RGD_ID:1580361
8725473	F5	coagulation factor V	gene	DOID:9001916	Fetal Death	no_association	ISO	RGD:1344593	D	RGD:9068941	20200609	RGD			PMID:14706682|REF_RGD_ID:1580130
8725473	F5	coagulation factor V	gene	DOID:9002488	Peritoneal Fibrosis		ISO	RGD:1589758	D	RGD:9068941	20200609	RGD			PMID:19458308|REF_RGD_ID:7394780
8725473	F5	coagulation factor V	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1344593	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25200834
8725473	F5	coagulation factor V	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1589758	D	RGD:9068941	20210115	RGD		protein:increased expression:serum	PMID:25200834|REF_RGD_ID:10449102
8725473	F5	coagulation factor V	gene	DOID:9003049	Femur Head Necrosis		ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		associated with kidney transplantation;1691G>A(human)	PMID:16968732|REF_RGD_ID:6902907
8725473	F5	coagulation factor V	gene	DOID:9003121	Thromboembolism		ISO	RGD:1344593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thromboembolism	PMID:19486170|PMID:25741868|PMID:28492532|PMID:29652992|PMID:31064749|PMID:32833806|PMID:34280927|PMID:37150682
8725473	F5	coagulation factor V	gene	DOID:9003505	Venous Thromboembolism		ISO	RGD:1344593	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7500743|PMID:9149031
8725473	F5	coagulation factor V	gene	DOID:9003505	Venous Thromboembolism		ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		DNA:mutation: :1691G>A (human)	PMID:25665832|REF_RGD_ID:10449100
8725473	F5	coagulation factor V	gene	DOID:9003505	Venous Thromboembolism	disease_progression	ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs6025(human)	PMID:26245493|REF_RGD_ID:11536892
8725473	F5	coagulation factor V	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1344593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deep vein thrombosis | ClinVar Annotator: match by term: Deep venous thrombosis | ClinVar Annotator: match by term: Venous thrombosis	PMID:11950065|PMID:12816860|PMID:16246256|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33059327|PMID:34355501
8725473	F5	coagulation factor V	gene	DOID:9004082	Mesenteric Ischemia		ISO	RGD:1344593	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24282370
8725473	F5	coagulation factor V	gene	DOID:9004484	Sepsis	severity	ISO	RGD:1344593	D	RGD:9068941	20200609	RGD			PMID:16235188|REF_RGD_ID:4892622
8725473	F5	coagulation factor V	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:1589758	D	RGD:9068941	20200609	RGD			PMID:12000738|REF_RGD_ID:1598921
8725473	F5	coagulation factor V	gene	DOID:9004590	Acute Liver Failure	severity	ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		protein:altered expression (human)	PMID:1740285|REF_RGD_ID:14700653
8725473	F5	coagulation factor V	gene	DOID:9005359	Hereditary Thrombophilia		ISO	RGD:1344593	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9136971
8725473	F5	coagulation factor V	gene	DOID:9005930	Endotoxemia		ISO	RGD:1589758	D	RGD:9068941	20200609	RGD			PMID:11092686|REF_RGD_ID:7394782
8725473	F5	coagulation factor V	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1344593	D	RGD:9068941	20200609	RGD		DNA:mutation, haplotype: :1691G>A (human)	PMID:19524925|REF_RGD_ID:4892673
8725473	F5	coagulation factor V	gene	DOID:9007367	Septic Peritonitis	disease_progression	ISO	RGD:10557	D	RGD:9068941	20200609	RGD			PMID:25690763|REF_RGD_ID:11564333
8725473	F5	coagulation factor V	gene	DOID:9007479	Habitual Abortions		ISO	RGD:1344593	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: FETAL LOSS, RECURRENT, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1	PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:11018168|PMID:11110695|PMID:11686338|PMID:11950065|PMID:12069454|PMID:12070000|PMID:12421138|PMID:12816860|PMID:14996674|PMID:15208046|PMID:15534175|PMID:15638861|PMID:15946211|PMID:16199547|PMID:16246256|PMID:16493002|PMID:16769590|PMID:16931580|PMID:17145618|PMID:19652888|PMID:20051284|PMID:21116184|PMID:21774968|PMID:22704462|PMID:22992668|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:28750087|PMID:30924984|PMID:31399523|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:7968118|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9459326|PMID:9518910|PMID:9734642
8725473	F5	coagulation factor V	gene	DOID:9007479	Habitual Abortions		ISO	RGD:1344593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FETAL LOSS, RECURRENT, SUSCEPTIBILITY TO	PMID:11950065|PMID:12816860|PMID:16199547|PMID:16246256|PMID:17145618|PMID:25741868|PMID:28492532|PMID:30924984|PMID:31399523|PMID:34355501
8725473	F5	coagulation factor V	gene	DOID:9007479	Habitual Abortions	susceptibility	ISO	RGD:1344593	D	RGD:7240710	20260701	OMIM			
8725473	F5	coagulation factor V	gene	DOID:9008217	Hemorrhage		ISO	RGD:1344593	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hemorrhage | ClinVar Annotator: match by term: bleeding	PMID:25741868|PMID:28492532|PMID:34355501
8725473	F5	coagulation factor V	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8725473	F5	coagulation factor V	gene	DOID:9256	colorectal cancer		ISO	RGD:1344593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8725473	F5	coagulation factor V	gene	DOID:9477	pulmonary embolism		ISO	RGD:1344593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary embolism | ClinVar Annotator: match by term: pulmonary embolism	PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501
8725473	F5	coagulation factor V	gene	DOID:999	hypereosinophilic syndrome		ISO	RGD:1344593	D	RGD:9068941	20200609	RGD			PMID:15026880|REF_RGD_ID:1580361
8725502	Slc22a2	solute carrier family 22 member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725502	Slc22a2	solute carrier family 22 member 2	gene	DOID:1074	kidney failure		ISO	RGD:61936	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:kidney cortex	PMID:21167265|REF_RGD_ID:7243878
8725502	Slc22a2	solute carrier family 22 member 2	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:61936	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:20814153|REF_RGD_ID:7243879
8725502	Slc22a2	solute carrier family 22 member 2	gene	DOID:1852	intrahepatic cholestasis		ISO	RGD:61936	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:kidney	PMID:19002567|REF_RGD_ID:7243885
8725502	Slc22a2	solute carrier family 22 member 2	gene	DOID:1920	hyperuricemia		ISO	RGD:61936	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:kidney	PMID:15748710|REF_RGD_ID:7243882
8725502	Slc22a2	solute carrier family 22 member 2	gene	DOID:1920	hyperuricemia	treatment	ISO	RGD:62229	D	RGD:9068941	20200609	RGD			PMID:21154198|PMID:21909718|REF_RGD_ID:7243180|REF_RGD_ID:7244192
8725502	Slc22a2	solute carrier family 22 member 2	gene	DOID:3021	acute kidney failure		ISO	RGD:61936	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney	PMID:18612803|REF_RGD_ID:7243880
8725502	Slc22a2	solute carrier family 22 member 2	gene	DOID:3021	acute kidney failure	susceptibility	ISO	RGD:1342518	D	RGD:9068941	20200609	RGD		DNA:SNP: :808G>T (rs316019) human	PMID:19625999|REF_RGD_ID:7243884
8725502	Slc22a2	solute carrier family 22 member 2	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:61936	D	RGD:9068941	20200609	RGD			PMID:22414646|REF_RGD_ID:7243179
8725502	Slc22a2	solute carrier family 22 member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8725502	Slc22a2	solute carrier family 22 member 2	gene	DOID:557	kidney disease		ISO	RGD:1342518	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22525860
8725502	Slc22a2	solute carrier family 22 member 2	gene	DOID:783	end stage renal disease		ISO	RGD:61936	D	RGD:9068941	20200609	RGD			PMID:23280877|REF_RGD_ID:7243177
8725502	Slc22a2	solute carrier family 22 member 2	gene	DOID:783	end stage renal disease		ISO	RGD:61936	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney, plasma membrane	PMID:12110012|REF_RGD_ID:7243883
8725502	Slc22a2	solute carrier family 22 member 2	gene	DOID:9000046	Poisoning		ISO	RGD:1342518	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22525860
8725502	Slc22a2	solute carrier family 22 member 2	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:62229	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney	PMID:23228442|REF_RGD_ID:7243178
8725502	Slc22a2	solute carrier family 22 member 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:61936	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney	PMID:19356064|REF_RGD_ID:2312728
8725502	Slc22a2	solute carrier family 22 member 2	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:61936	D	RGD:9068941	20200609	RGD			PMID:18313662|REF_RGD_ID:7243881
8725502	Slc22a2	solute carrier family 22 member 2	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:61936	D	RGD:9068941	20200609	RGD			PMID:21835768|REF_RGD_ID:7243877
8725502	Slc22a2	solute carrier family 22 member 2	gene	DOID:9970	obesity		ISO	RGD:1342518	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27401566
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:0070269	congenital disorder of glycosylation type IIq		ISO	RGD:1312615	D	RGD:7240710	20190315	OMIM			
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:0070269	congenital disorder of glycosylation type IIq		ISO	RGD:1312615	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: CDG IIq | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq	PMID:17576681|PMID:24784932|PMID:25741868|PMID:28492532|PMID:9536098
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:1115	sarcoma		ISO	RGD:1312615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:1324	lung cancer		ISO	RGD:1312615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:3275	thymoma		ISO	RGD:1312615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312615	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1312615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1312615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8725521	Cog2	component of oligomeric golgi complex 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1312615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8725557	Eml3	EMAP like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1606414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8725557	Eml3	EMAP like 3	gene	DOID:1115	sarcoma		ISO	RGD:1606414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8725557	Eml3	EMAP like 3	gene	DOID:1324	lung cancer		ISO	RGD:1606414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8725557	Eml3	EMAP like 3	gene	DOID:1909	melanoma		ISO	RGD:1606414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8725557	Eml3	EMAP like 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8725557	Eml3	EMAP like 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8725557	Eml3	EMAP like 3	gene	DOID:4362	cervical cancer		ISO	RGD:1606414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8725557	Eml3	EMAP like 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8725557	Eml3	EMAP like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725557	Eml3	EMAP like 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1606414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8725557	Eml3	EMAP like 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8725557	Eml3	EMAP like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8725557	Eml3	EMAP like 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8725587	Brme1	break repair meiotic recombinase recruitment factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725587	Brme1	break repair meiotic recombinase recruitment factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1603955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8725587	Brme1	break repair meiotic recombinase recruitment factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8725587	Brme1	break repair meiotic recombinase recruitment factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725587	Brme1	break repair meiotic recombinase recruitment factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8725587	Brme1	break repair meiotic recombinase recruitment factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8725587	Brme1	break repair meiotic recombinase recruitment factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8725597	Cmtm2	CKLF like MARVEL transmembrane domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725597	Cmtm2	CKLF like MARVEL transmembrane domain containing 2	gene	DOID:0080600	COVID-19		ISO	RGD:1342693	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8725597	Cmtm2	CKLF like MARVEL transmembrane domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8725597	Cmtm2	CKLF like MARVEL transmembrane domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1342693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8725597	Cmtm2	CKLF like MARVEL transmembrane domain containing 2	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1342693	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8725597	Cmtm2	CKLF like MARVEL transmembrane domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8725597	Cmtm2	CKLF like MARVEL transmembrane domain containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1342693	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8725604	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725604	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8725604	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8725604	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:1324	lung cancer		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8725604	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8725604	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:3275	thymoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8725604	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8725604	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8725604	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8725604	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8725604	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323157	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8725604	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1323157	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8725604	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8725604	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725604	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8725604	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8725604	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8725604	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8725629	Ptges2	prostaglandin E synthase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8725629	Ptges2	prostaglandin E synthase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725629	Ptges2	prostaglandin E synthase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1321966	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8725629	Ptges2	prostaglandin E synthase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8725629	Ptges2	prostaglandin E synthase 2	gene	DOID:1909	melanoma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8725629	Ptges2	prostaglandin E synthase 2	gene	DOID:3070	high grade glioma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8725629	Ptges2	prostaglandin E synthase 2	gene	DOID:3275	thymoma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8725629	Ptges2	prostaglandin E synthase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321966	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8725629	Ptges2	prostaglandin E synthase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725629	Ptges2	prostaglandin E synthase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8725629	Ptges2	prostaglandin E synthase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8725629	Ptges2	prostaglandin E synthase 2	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1321966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22387750
8725629	Ptges2	prostaglandin E synthase 2	gene	DOID:9004786	Carbon Tetrachloride Poisoning	treatment	ISO	RGD:1310836	D	RGD:9068941	20250417	RGD			PMID:26081032|REF_RGD_ID:598130074
8725629	Ptges2	prostaglandin E synthase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8725629	Ptges2	prostaglandin E synthase 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1321966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31444509
8725629	Ptges2	prostaglandin E synthase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8725642	Rgs7	regulator of G protein signaling 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8725642	Rgs7	regulator of G protein signaling 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725642	Rgs7	regulator of G protein signaling 7	gene	DOID:0051061	stroke		ISO	RGD:733586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29531354
8725642	Rgs7	regulator of G protein signaling 7	gene	DOID:10534	stomach cancer		ISO	RGD:733586	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8725642	Rgs7	regulator of G protein signaling 7	gene	DOID:1059	intellectual disability		ISO	RGD:733586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
8725642	Rgs7	regulator of G protein signaling 7	gene	DOID:1115	sarcoma		ISO	RGD:733586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8725642	Rgs7	regulator of G protein signaling 7	gene	DOID:1909	melanoma		ISO	RGD:733586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8725642	Rgs7	regulator of G protein signaling 7	gene	DOID:2560	morphine dependence	treatment	ISO	RGD:733587	D	RGD:9068941	20250301	RGD			PMID:15199376|REF_RGD_ID:597830059
8725642	Rgs7	regulator of G protein signaling 7	gene	DOID:5041	esophageal cancer		ISO	RGD:733586	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8725642	Rgs7	regulator of G protein signaling 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8725642	Rgs7	regulator of G protein signaling 7	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:733586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8725642	Rgs7	regulator of G protein signaling 7	gene	DOID:9007090	Experimental Seizures		ISO	RGD:3570	D	RGD:9068941	20200609	RGD			PMID:12358788|REF_RGD_ID:13524540
8725675	Niban2	niban apoptosis regulator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725675	Niban2	niban apoptosis regulator 2	gene	DOID:0080600	COVID-19		ISO	RGD:1315963	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8725675	Niban2	niban apoptosis regulator 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8725675	Niban2	niban apoptosis regulator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8725675	Niban2	niban apoptosis regulator 2	gene	DOID:1115	sarcoma		ISO	RGD:1315963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8725675	Niban2	niban apoptosis regulator 2	gene	DOID:1909	melanoma		ISO	RGD:1315963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8725675	Niban2	niban apoptosis regulator 2	gene	DOID:3275	thymoma		ISO	RGD:1315963	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8725675	Niban2	niban apoptosis regulator 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8725675	Niban2	niban apoptosis regulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725675	Niban2	niban apoptosis regulator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8725675	Niban2	niban apoptosis regulator 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1317528	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:0070763	primary ciliary dyskinesia 50		ISO	RGD:1317528	D	RGD:7240710	20230505	OMIM			
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:0070763	primary ciliary dyskinesia 50		ISO	RGD:1317528	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 50 | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 50 | ClinVar Annotator: match by term: DNAH7-related condition	PMID:24033266|PMID:25741868|PMID:28492532
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:0110599	primary ciliary dyskinesia 3		ISO	RGD:1317528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia 3	PMID:25741868
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1317528	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:25741868|PMID:28492532
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:10534	stomach cancer		ISO	RGD:1317528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:1115	sarcoma		ISO	RGD:1317528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:1324	lung cancer		ISO	RGD:1317528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:1826	epilepsy		ISO	RGD:1317528	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:1909	melanoma		ISO	RGD:1317528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:3070	high grade glioma		ISO	RGD:1317528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1317528	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:1317528	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Situs inversus	
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:9000590	Dyspnea		ISO	RGD:1317528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyspnea	
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:9002362	Hyperkinesis		ISO	RGD:1317528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkinesis	PMID:25741868
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1317528	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	
8725692	Dnah7	dynein axonemal heavy chain 7	gene	DOID:9563	bronchiectasis		ISO	RGD:1317528	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bronchiectasis	
8725773	Pus7	pseudouridine synthase 7	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725773	Pus7	pseudouridine synthase 7	gene	DOID:0070297	primary microcephaly		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:0081265	intellectual developmental disorder with abnormal behavior, microcephaly, and short stature		ISO	RGD:1603643	D	RGD:7240710	20190315	OMIM			
8725773	Pus7	pseudouridine synthase 7	gene	DOID:0081265	intellectual developmental disorder with abnormal behavior, microcephaly, and short stature		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE | ClinVar Annotator: match by term: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | ClinVar Annotator: match by term: PUS7-related condition	PMID:25741868|PMID:28492532|PMID:30526862|PMID:30778726|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:10175	optic papillitis		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Optic papillitis	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8725773	Pus7	pseudouridine synthase 7	gene	DOID:1059	intellectual disability		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Profound intellectual disability	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:1059	intellectual disability		ISO	RGD:1603643	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868
8725773	Pus7	pseudouridine synthase 7	gene	DOID:10907	microcephaly		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:10908	hydrocephalus		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8725773	Pus7	pseudouridine synthase 7	gene	DOID:1115	sarcoma		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8725773	Pus7	pseudouridine synthase 7	gene	DOID:1205	allergic disease		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:12849	autistic disorder		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3 | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:12849	autistic disorder		ISO	RGD:1603643	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8725773	Pus7	pseudouridine synthase 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8725773	Pus7	pseudouridine synthase 7	gene	DOID:2355	anemia		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:3650	lactic acidosis		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8725773	Pus7	pseudouridine synthase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725773	Pus7	pseudouridine synthase 7	gene	DOID:6039	uveal melanoma		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8725773	Pus7	pseudouridine synthase 7	gene	DOID:630	genetic disease		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
8725773	Pus7	pseudouridine synthase 7	gene	DOID:7319	axonal neuropathy		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sensory axonal neuropathy	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:8488	polyhydramnios		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9000343	Vision Disorders		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9003137	Photophobia		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Photophobia	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9004538	Hearing Loss		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9005616	Micrognathism		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9006617	Fatigue		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9007105	Hyperemesis Gravidarum		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hyperemesis gravidarum	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9007573	Flatfoot		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9007661	Dwarfism		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9007776	Hemianopsia		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hemianopia	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9008214	Genu Valgum		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9008606	Corneal Opacity		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Corneal opacity	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603643	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:35144859
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8725773	Pus7	pseudouridine synthase 7	gene	DOID:9993	hypoglycemia		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Fasting hypoglycemia | ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868|PMID:35144859
8725824	Arglu1	arginine and glutamate rich 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8725824	Arglu1	arginine and glutamate rich 1	gene	DOID:1324	lung cancer		ISO	RGD:1605984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8725824	Arglu1	arginine and glutamate rich 1	gene	DOID:3275	thymoma		ISO	RGD:1605984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8725824	Arglu1	arginine and glutamate rich 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8725824	Arglu1	arginine and glutamate rich 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8725832	Dydc2	DPY30 domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1352468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8725832	Dydc2	DPY30 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725840	Serpini2	serpin family I member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725840	Serpini2	serpin family I member 2	gene	DOID:0060479	Shwachman-Diamond syndrome		ISO	RGD:737029	D	RGD:9068941	20220825	MouseDO		OMIM:260400	
8725840	Serpini2	serpin family I member 2	gene	DOID:1324	lung cancer		ISO	RGD:737028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8725840	Serpini2	serpin family I member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:737028	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8725840	Serpini2	serpin family I member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725840	Serpini2	serpin family I member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8725848	Klhdc1	kelch domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725848	Klhdc1	kelch domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1317857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8725848	Klhdc1	kelch domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1317857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8725848	Klhdc1	kelch domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1317857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8725848	Klhdc1	kelch domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8725848	Klhdc1	kelch domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8725871	Tmem59l	transmembrane protein 59 like	gene	DOID:1115	sarcoma		ISO	RGD:1313653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8725871	Tmem59l	transmembrane protein 59 like	gene	DOID:5119	ovarian cyst		ISO	RGD:1313653	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
8725871	Tmem59l	transmembrane protein 59 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725871	Tmem59l	transmembrane protein 59 like	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313653	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8725871	Tmem59l	transmembrane protein 59 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8725888	Lyl1	LYL1 basic helix-loop-helix family member	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1343769	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16094422
8725888	Lyl1	LYL1 basic helix-loop-helix family member	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725888	Lyl1	LYL1 basic helix-loop-helix family member	gene	DOID:1037	lymphoid leukemia		ISO	RGD:1343769	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3162254
8725888	Lyl1	LYL1 basic helix-loop-helix family member	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1343769	D	RGD:7240710	20200325	OMIM			
8725888	Lyl1	LYL1 basic helix-loop-helix family member	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725888	Lyl1	LYL1 basic helix-loop-helix family member	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8725888	Lyl1	LYL1 basic helix-loop-helix family member	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343769	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16094422
8725928	Arhgap1	Rho GTPase activating protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725928	Arhgap1	Rho GTPase activating protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8725928	Arhgap1	Rho GTPase activating protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8725928	Arhgap1	Rho GTPase activating protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1314470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8725928	Arhgap1	Rho GTPase activating protein 1	gene	DOID:1909	melanoma		ISO	RGD:1314470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8725928	Arhgap1	Rho GTPase activating protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725928	Arhgap1	Rho GTPase activating protein 1	gene	DOID:9002644	Premature Aging		ISO	RGD:1314471	D	RGD:9068941	20200609	RGD			PMID:17227869|REF_RGD_ID:10043350
8725928	Arhgap1	Rho GTPase activating protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8725928	Arhgap1	Rho GTPase activating protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8725945	Ccl1	C-C motif chemokine ligand 1	gene	DOID:1063	interstitial nephritis		ISO	RGD:1353511	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10385480
8725945	Ccl1	C-C motif chemokine ligand 1	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1618405	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:11134301|REF_RGD_ID:4891417
8725945	Ccl1	C-C motif chemokine ligand 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1353511	D	RGD:9068941	20200609	RGD		DNA:SNP:3' utr:c.*136G>A (rs3136682) (human)	PMID:19865101|REF_RGD_ID:4145472
8725945	Ccl1	C-C motif chemokine ligand 1	gene	DOID:2527	nephrosis		ISO	RGD:1586495	D	RGD:9068941	20200609	RGD			PMID:10867541|REF_RGD_ID:4891422
8725945	Ccl1	C-C motif chemokine ligand 1	gene	DOID:2841	asthma		ISO	RGD:1353511	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:20455898|REF_RGD_ID:4891420
8725945	Ccl1	C-C motif chemokine ligand 1	gene	DOID:289	endometriosis		ISO	RGD:1353511	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30579999
8725945	Ccl1	C-C motif chemokine ligand 1	gene	DOID:2921	glomerulonephritis		ISO	RGD:1353511	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10385480
8725945	Ccl1	C-C motif chemokine ligand 1	gene	DOID:2921	glomerulonephritis		ISO	RGD:1586495	D	RGD:9068941	20200609	RGD			PMID:11157384|REF_RGD_ID:8693624
8725945	Ccl1	C-C motif chemokine ligand 1	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1618405	D	RGD:9068941	20200619	RGD		mRNA: increased expression:lung (mouse)	PMID:15356152|REF_RGD_ID:30309221
8725945	Ccl1	C-C motif chemokine ligand 1	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1618405	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung, dendritic cell	PMID:18703681|REF_RGD_ID:4891409
8725945	Ccl1	C-C motif chemokine ligand 1	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1353511	D	RGD:9068941	20200609	RGD		DNA:SNP: :multiple (human)	PMID:19057661|REF_RGD_ID:4891408
8725945	Ccl1	C-C motif chemokine ligand 1	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1353511	D	RGD:9068941	20200609	RGD		DNA:SNP:enhancer:rs2282691 (human)	PMID:16864713|REF_RGD_ID:4891410
8725945	Ccl1	C-C motif chemokine ligand 1	gene	DOID:399	tuberculosis	susceptibility	ISO	RGD:1353511	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs159294, rs210837, rs10491110 (human)	PMID:19057661|REF_RGD_ID:4891408
8725945	Ccl1	C-C motif chemokine ligand 1	gene	DOID:4483	rhinitis		ISO	RGD:1353511	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nasal cavity epithelium	PMID:17982926|REF_RGD_ID:4145109
8725945	Ccl1	C-C motif chemokine ligand 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1353511	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22507635
8725945	Ccl1	C-C motif chemokine ligand 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1618405	D	RGD:9068941	20210423	RGD		mRNA:increased expression:liver (mouse)	PMID:26569409|REF_RGD_ID:11344640
8725945	Ccl1	C-C motif chemokine ligand 1	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1353511	D	RGD:9068941	20200609	RGD		associated with Sinusitis	PMID:20598643|REF_RGD_ID:4891418
8725945	Ccl1	C-C motif chemokine ligand 1	gene	DOID:9002287	Respiratory Tract Granuloma		ISO	RGD:1618405	D	RGD:9068941	20200609	RGD		associated with Schistosomiasis mansoni	PMID:12600821|REF_RGD_ID:4145441
8725945	Ccl1	C-C motif chemokine ligand 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1586495	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lymph node	PMID:19865101|REF_RGD_ID:4145472
8725945	Ccl1	C-C motif chemokine ligand 1	gene	DOID:9498	pulmonary eosinophilia		ISO	RGD:1618405	D	RGD:9068941	20200609	RGD		associated with Asthma	PMID:12707363|REF_RGD_ID:4891412
8725955	Ubl4a	ubiquitin like 4A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8725963	Irak1bp1	interleukin 1 receptor associated kinase 1 binding protein 1	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1312787	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24097067
8725963	Irak1bp1	interleukin 1 receptor associated kinase 1 binding protein 1	gene	DOID:9000949	DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES		ISO	RGD:15151227|RGD:155909985|RGD:155917711|RGD:155941657|RGD:155946743|RGD:155994000|RGD:156001386|RGD:156086774|RGD:156086800|RGD:156113993|RGD:156168282|RGD:156199250|RGD:156199284|RGD:156206084|RGD:156218440|RGD:156223036|RGD:156223204|RGD:156256772|RGD:156268314|RGD:156279616|RGD:156285069|RGD:156310091|RGD:156311384|RGD:156313510|RGD:156356438|RGD:156374182|RGD:156390259|RGD:156398887|RGD:156412232|RGD:156434275|RGD:401920707|RGD:402468189|RGD:402487821|RGD:402506967|RGD:404986306|RGD:405062539|RGD:405122933|RGD:405123442|RGD:405123801|RGD:405219665|RGD:405237749|RGD:405246767|RGD:405254476|RGD:408368305|RGD:408368324|RGD:408368355|RGD:408368502|RGD:408368632|RGD:408368865|RGD:408369028|RGD:408378350	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM | ClinVar Annotator: match by term: PHIP-related disorder	PMID:28492532
8725977	Mef2a	myocyte enhancer factor 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8725977	Mef2a	myocyte enhancer factor 2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8725977	Mef2a	myocyte enhancer factor 2A	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322126	D	RGD:9068941	20200609	RGD			PMID:16469744|REF_RGD_ID:1580546
8725977	Mef2a	myocyte enhancer factor 2A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8725977	Mef2a	myocyte enhancer factor 2A	gene	DOID:3070	high grade glioma		ISO	RGD:1322126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8725977	Mef2a	myocyte enhancer factor 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1322126	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8725977	Mef2a	myocyte enhancer factor 2A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8725977	Mef2a	myocyte enhancer factor 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8725977	Mef2a	myocyte enhancer factor 2A	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1359360	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:18413674|REF_RGD_ID:2312263
8725977	Mef2a	myocyte enhancer factor 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8725977	Mef2a	myocyte enhancer factor 2A	gene	DOID:9007440	Coronary Artery Disease, Autosomal Dominant 1		ISO	RGD:1322126	D	RGD:7240710	20180130	OMIM			
8725977	Mef2a	myocyte enhancer factor 2A	gene	DOID:9007440	Coronary Artery Disease, Autosomal Dominant 1		ISO	RGD:1322126	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION | ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant, 1 | ClinVar Annotator: match by term: MEF2A-related disorder	PMID:15496429|PMID:15598500|PMID:25741868|PMID:34691145
8725977	Mef2a	myocyte enhancer factor 2A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8725977	Mef2a	myocyte enhancer factor 2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8726005	Asnsd1	asparagine synthetase domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8726005	Asnsd1	asparagine synthetase domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8726005	Asnsd1	asparagine synthetase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1603641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726005	Asnsd1	asparagine synthetase domain containing 1	gene	DOID:423	myopathy		ISO	RGD:1314893	D	RGD:9068941	20240418	MouseDO			
8726005	Asnsd1	asparagine synthetase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8726017	Nckap5l	NCK associated protein 5 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8726017	Nckap5l	NCK associated protein 5 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8726017	Nckap5l	NCK associated protein 5 like	gene	DOID:1324	lung cancer		ISO	RGD:1605652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8726017	Nckap5l	NCK associated protein 5 like	gene	DOID:1909	melanoma		ISO	RGD:1605652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8726017	Nckap5l	NCK associated protein 5 like	gene	DOID:3070	high grade glioma		ISO	RGD:1605652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8726017	Nckap5l	NCK associated protein 5 like	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8726017	Nckap5l	NCK associated protein 5 like	gene	DOID:4362	cervical cancer		ISO	RGD:1605652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8726017	Nckap5l	NCK associated protein 5 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1605652	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8726017	Nckap5l	NCK associated protein 5 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726017	Nckap5l	NCK associated protein 5 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8726017	Nckap5l	NCK associated protein 5 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8726053	Cnga2	cyclic nucleotide gated channel subunit alpha 2	gene	DOID:4362	cervical cancer		ISO	RGD:736824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8726064	Bfsp1	beaded filament structural protein 1	gene	DOID:0110264	cataract 33		ISO	RGD:737302	D	RGD:7240710	20180130	OMIM			
8726064	Bfsp1	beaded filament structural protein 1	gene	DOID:0110264	cataract 33		ISO	RGD:737302	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BFSP1-related condition | ClinVar Annotator: match by term: CATARACT 33, CORTICAL | ClinVar Annotator: match by term: Cataract 33	PMID:12454043|PMID:14638724|PMID:17225135|PMID:25741868|PMID:26694549|PMID:28492532
8726064	Bfsp1	beaded filament structural protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
8726064	Bfsp1	beaded filament structural protein 1	gene	DOID:12270	coloboma		ISO	RGD:737302	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Coloboma	PMID:28492532
8726064	Bfsp1	beaded filament structural protein 1	gene	DOID:1324	lung cancer		ISO	RGD:737302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8726064	Bfsp1	beaded filament structural protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:737302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8726064	Bfsp1	beaded filament structural protein 1	gene	DOID:630	genetic disease		ISO	RGD:737302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8726064	Bfsp1	beaded filament structural protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8726064	Bfsp1	beaded filament structural protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:22795537|PMID:25574841|PMID:25741868|PMID:25810209|PMID:28120103|PMID:28492532|PMID:29574747|PMID:30549396|PMID:31157197|PMID:31337854|PMID:38397201
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:0050581	brachydactyly		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:35904121
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:0050840	cervical dystonia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868|PMID:33043602
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:35163737
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1347719	D	RGD:9068941	20200609	RGD		DNA:rearrangements	PMID:8361504|REF_RGD_ID:1625285
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:0060260	ptosis		ISO	RGD:1347719	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:33783954|PMID:37025457
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:0060261	congenital ptosis		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ptosis	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:0060320	inguinal hernia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:0060321	umbilical hernia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:0080505	Cornelia de Lange syndrome 1		ISO	RGD:1347719	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cornelia de Lange syndrome 1	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:0080703	medulloblastoma SHH activated		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated	PMID:25998713|PMID:27993330|PMID:32461620|PMID:33503190|PMID:35328068|PMID:35505597
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:0080833	laryngomalacia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:0081082	acute myelomonocytic leukemia		ISO	RGD:1347719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8282816
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:35163737|PMID:35904121
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:10283	prostate cancer		ISO	RGD:1347719	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:prostate gland (human)	PMID:24200674|REF_RGD_ID:9587761
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:10348	blepharophimosis		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:35163737|PMID:35904121
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:1037	lymphoid leukemia		ISO	RGD:1347719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17463288
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:10376	amblyopia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:10426	Klippel-Feil syndrome		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Klippel-Feil syndrome	PMID:25741868|PMID:33043602
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:10534	stomach cancer		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:1059	intellectual disability		ISO	RGD:1347719	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:28600779|PMID:29276005|PMID:29574747|PMID:31785789
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:1059	intellectual disability		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: intellectual disability | ClinVar Annotator: match by term: moderate intellectual disability	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:28600779|PMID:29203834|PMID:29276005|PMID:29574747|PMID:30305169|PMID:30315573|PMID:31785789|PMID:33043602|PMID:35904121|PMID:39825153
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:1059	intellectual disability		ISO	RGD:1347719	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: intellectual disability | ClinVar Annotator: match by term: moderate intellectual disability	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:28600779|PMID:29203834|PMID:29276005|PMID:29574747|PMID:30305169|PMID:30315573|PMID:31785789|PMID:33043602|PMID:35904121
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:1059	intellectual disability		ISO	RGD:1347719	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: intellectual disability | ClinVar Annotator: match by term: moderate intellectual disability	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:28600779|PMID:29203834|PMID:29276005|PMID:29574747|PMID:30305169|PMID:30315573|PMID:31785789|PMID:33043602|PMID:35904121|PMID:35982159|PMID:37025457
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:10629	microphthalmia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral microphthalmos	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:10869	fourth cranial nerve palsy		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fourth cranial nerve palsy	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:10892	hypospadias		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:10907	microcephaly		ISO	RGD:1347719	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:22795537|PMID:25356970|PMID:25741868|PMID:25810209|PMID:27959697|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29574747|PMID:33043602|PMID:33783954|PMID:35163737|PMID:37025457|PMID:38170291
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:33043602
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:10965	spastic diplegia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822268
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:11111	hydronephrosis		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:33043602|PMID:35163737
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:1115	sarcoma		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:11383	cryptorchidism		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:1143	exotropia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:1148	polydactyly		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:11782	astigmatism		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:33043602
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:11830	myopia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:33043602
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:11836	clubfoot		ISO	RGD:1347719	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	PMID:22795537|PMID:25810209|PMID:28492532|PMID:29574747|PMID:33783954|PMID:37025457
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:12128	pica disease		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pica	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:1240	leukemia		ISO	RGD:1347719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11731795|PMID:12937054
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:12849	autistic disorder		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: CHD8-Related Disorders	PMID:25741868|PMID:28492532|PMID:29203834|PMID:29574747|PMID:30315573|PMID:33043602
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:1324	lung cancer		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:13620	patent foramen ovale		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:1588	thrombocytopenia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:1602	lymphadenitis		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphadenitis	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:1657	ventricular septal defect		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:1826	epilepsy		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:29203834|PMID:29574747|PMID:30315573|PMID:33043602
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:1909	melanoma		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:1969	cerebral palsy		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:28492532
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:2030	anxiety disorder		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:1586165	D	RGD:9068941	20230209	RGD			PMID:34694864|REF_RGD_ID:155888565
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:2340	craniosynostosis		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Trigonocephaly	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:2361	macrocytic anemia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocytic anemia	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1347719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822268
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:299	adenocarcinoma		ISO	RGD:1347719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22484628
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:3070	high grade glioma		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:3087	gingivitis		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868|PMID:28492532
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:3312	bipolar disorder		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:25741868|PMID:28492532
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:3315	lipoma		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lipoma	PMID:25741868|PMID:29574747
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal cortex carcinoma	PMID:22795537|PMID:25356970|PMID:25741868|PMID:25810209|PMID:27959697|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29574747|PMID:38170291
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:420	hypertrichosis		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:4362	cervical cancer		ISO	RGD:1347719	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:22926525|REF_RGD_ID:9588221
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:4971	myelofibrosis	exacerbates	ISO	RGD:1347719	D	RGD:9068941	20230330	RGD		DNA:mutations:multiple (human)	PMID:35731275|REF_RGD_ID:156420157
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:4977	lymphedema		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphedema	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1347719	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1347719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941188
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:18414213|PMID:25741868|PMID:26690532|PMID:29574747
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:630	genetic disease		ISO	RGD:1347719	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:22795537|PMID:25356970|PMID:25574841|PMID:25741868|PMID:25810209|PMID:26690532|PMID:27759909|PMID:27959697|PMID:28120103|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29203834|PMID:29453417|PMID:29574747|PMID:30138938|PMID:30315573|PMID:30549396|PMID:31157197|PMID:31337854|PMID:32368696|PMID:33043602|PMID:33084842|PMID:33783954|PMID:35163737|PMID:37025457|PMID:38170291|PMID:38397201
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:6543	acne		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acne	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22634756
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:784	chronic kidney disease		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:35163737
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:8499	night blindness		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Night blindness	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:865	vasculitis		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasculitis	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:8692	myeloid leukemia		ISO	RGD:1347719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17463288|PMID:8282816
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:8864	acute monocytic leukemia		ISO	RGD:1347719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8282816
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9000058	Keloid		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Keloid	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:35904121
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1347719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22484628
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9000647	Acute Erythroleukemia		ISO	RGD:1347719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30926971
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9000962	Snoring		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Snoring	PMID:22795537|PMID:25356970|PMID:25741868|PMID:25810209|PMID:27959697|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29574747|PMID:38170291
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9000972	Fever		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9001255	Kabuki Syndrome 1		ISO	RGD:1347719	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Kabuki syndrome 1	PMID:25741868|PMID:29255178|PMID:32109418|PMID:35163737
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1347719	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:33783954|PMID:37025457
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:35904121
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9001581	Constipation		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9001722	Dysarthria		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:35163737
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9002112	Wiedemann-Steiner syndrome		ISO	RGD:1347719	D	RGD:7240710	20180130	OMIM			
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9002112	Wiedemann-Steiner syndrome		ISO	RGD:1347719	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Growth deficiency and mental retardation with facial dysmorphism | ClinVar Annotator: match by term: KMT2A-related condition | ClinVar Annotator: match by term: WIEDEMANN-STEINER SYNDROME | ClinVar Annotator: match by term: Wiedemann-Steiner Syndrome | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:22795537|PMID:24088041|PMID:25239263|PMID:25326637|PMID:25356970|PMID:25574841|PMID:25724810|PMID:25741868|PMID:25741869|PMID:25810209|PMID:26544196|PMID:26633545|PMID:26690532|PMID:27441994|PMID:27959697|PMID:28120103|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29203834|PMID:29276005|PMID:29276034|PMID:29574747|PMID:29758562|PMID:30305169|PMID:30315573|PMID:30549396|PMID:31044088|PMID:31157197|PMID:31337854|PMID:32720330|PMID:33004838|PMID:33043602|PMID:33783954|PMID:35101336|PMID:35163737|PMID:35727845|PMID:35904121|PMID:35982159|PMID:36479909|PMID:37025457|PMID:38170291|PMID:38177409|PMID:38397201|PMID:39415983|PMID:5519603|PMID:9536098
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1347719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9003132	Sialorrhea		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9003133	Hypertelorism		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9003137	Photophobia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Photophobia	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Crackles	PMID:22795537|PMID:25356970|PMID:25741868|PMID:25810209|PMID:27959697|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29574747|PMID:38170291
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9003591	Telecanthus		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9003748	Thumb Deformity		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumb deformity	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9003816	Macrocephaly		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9004327	Colpocephaly		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colpocephaly	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1347719	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:22795537|PMID:25574841|PMID:25741868|PMID:25810209|PMID:28120103|PMID:28492532|PMID:29574747|PMID:31157197|PMID:31337854
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9004507	Hirsutism		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:22795537|PMID:25356970|PMID:25741868|PMID:25810209|PMID:27959697|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29203834|PMID:29574747|PMID:30305169|PMID:30315573|PMID:33043602|PMID:35163737|PMID:38170291
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9004814	Chromosome Aberrations		ISO	RGD:1347719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24736461
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9004866	Ataxia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Incoordination	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:28492532|PMID:29203834|PMID:29574747|PMID:30315573|PMID:33043602
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia | ClinVar Annotator: match by term: hypotonia	PMID:22795537|PMID:25356970|PMID:25741868|PMID:25810209|PMID:27959697|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29203834|PMID:29574747|PMID:30315573|PMID:33043602|PMID:38170291
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9005616	Micrognathism		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:28492532
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9005985	Rubinstein Taybi like Syndrome		ISO	RGD:1347719	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rubinstein-Taybi syndrome-like	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:10900	D	RGD:9068941	20230209	RGD		protein:increased expression:kidney (mouse)	PMID:31570196|REF_RGD_ID:155888490
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9006846	Dysuria		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysuria	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9006875	Sutton Disease 2		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent aphthous stomatitis	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9007388	Heterochromia Iridis		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heterochromia iridis	PMID:28492532
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9007573	Flatfoot		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:28492532|PMID:29203834|PMID:29574747|PMID:30315573|PMID:33043602
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9007661	Dwarfism		ISO	RGD:1347719	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature | ClinVar Annotator: match by term: Short stature	PMID:22795537|PMID:25356970|PMID:25741868|PMID:25810209|PMID:27959697|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29203834|PMID:29574747|PMID:30305169|PMID:30315573|PMID:33043602|PMID:33783954|PMID:35904121|PMID:37025457|PMID:38170291
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9007892	Tics		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tics	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1347719	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22795537|PMID:25574841|PMID:25741868|PMID:25810209|PMID:28120103|PMID:28492532|PMID:29203834|PMID:29574747|PMID:30315573|PMID:30549396|PMID:31157197|PMID:31337854|PMID:33043602|PMID:33783954|PMID:35163737|PMID:37025457|PMID:38397201
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9008214	Genu Valgum		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:28492532
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9008385	Vomiting		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9008582	Developmental Disease		ISO	RGD:1347719	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9008675	Dyskinesias		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:10900	D	RGD:9068941	20220825	MouseDO		OMIM:601626	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10339604|PMID:26237430
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347719	D	RGD:9068941	20200609	RGD		DNA:rearrangements	PMID:8361504|REF_RGD_ID:1625285
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9119	acute myeloid leukemia	ameliorates	ISO	RGD:10900	D	RGD:9068941	20230209	RGD			PMID:26927674|REF_RGD_ID:11530086
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9119	acute myeloid leukemia	treatment	ISO	RGD:1347719	D	RGD:9068941	20230209	RGD		human cell line in a mouse model	PMID:33542482|REF_RGD_ID:155888491
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:93	language disorder		ISO	RGD:1347719	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:25741868|PMID:27353043|PMID:28492532
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:930	orbital disease		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:936	brain disease		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:28492532|PMID:29203834|PMID:29574747|PMID:30315573|PMID:33043602
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:35163737
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9834	hyperopia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:10900	D	RGD:9068941	20220825	MouseDO		OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545	
8726076	Kmt2a	lysine methyltransferase 2A	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1347719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24736461|PMID:25730765
8726125	Cdk5rap3	CDK5 regulatory subunit associated protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8726125	Cdk5rap3	CDK5 regulatory subunit associated protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8726125	Cdk5rap3	CDK5 regulatory subunit associated protein 3	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
8726125	Cdk5rap3	CDK5 regulatory subunit associated protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8726125	Cdk5rap3	CDK5 regulatory subunit associated protein 3	gene	DOID:1324	lung cancer		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8726125	Cdk5rap3	CDK5 regulatory subunit associated protein 3	gene	DOID:1909	melanoma		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8726125	Cdk5rap3	CDK5 regulatory subunit associated protein 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8726125	Cdk5rap3	CDK5 regulatory subunit associated protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8726125	Cdk5rap3	CDK5 regulatory subunit associated protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8726125	Cdk5rap3	CDK5 regulatory subunit associated protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8726125	Cdk5rap3	CDK5 regulatory subunit associated protein 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8726125	Cdk5rap3	CDK5 regulatory subunit associated protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726125	Cdk5rap3	CDK5 regulatory subunit associated protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8726125	Cdk5rap3	CDK5 regulatory subunit associated protein 3	gene	DOID:9000096	Lung Agenesis		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:25741868
8726125	Cdk5rap3	CDK5 regulatory subunit associated protein 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8726125	Cdk5rap3	CDK5 regulatory subunit associated protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8726125	Cdk5rap3	CDK5 regulatory subunit associated protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8726146	Prdx5	peroxiredoxin 5	gene	DOID:10459	common cold		ISO	RGD:1347956	D	RGD:9068941	20210205	RGD		associated with asthma;protein:increased expression:sputum (human)	PMID:18219526|REF_RGD_ID:41404684
8726146	Prdx5	peroxiredoxin 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8726146	Prdx5	peroxiredoxin 5	gene	DOID:11077	brucellosis		ISO	RGD:733919	D	RGD:9068941	20210205	RGD		mRNA:increased expression:spleen (mouse)	PMID:31196623|REF_RGD_ID:41404681
8726146	Prdx5	peroxiredoxin 5	gene	DOID:11335	sarcoidosis		ISO	RGD:1347956	D	RGD:9068941	20210205	RGD		protein:increased expression:alveolus of lung (human)	PMID:22837380|REF_RGD_ID:41404683
8726146	Prdx5	peroxiredoxin 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726146	Prdx5	peroxiredoxin 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8726146	Prdx5	peroxiredoxin 5	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1347956	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19424620
8726146	Prdx5	peroxiredoxin 5	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1347956	D	RGD:9068941	20210205	RGD		mRNA:decreased expression:liver, blood (human)	PMID:32103340|REF_RGD_ID:41404682
8726146	Prdx5	peroxiredoxin 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8726146	Prdx5	peroxiredoxin 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8726146	Prdx5	peroxiredoxin 5	gene	DOID:986	alopecia areata		ISO	RGD:1347956	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20596022
8726162	Notch3	notch receptor 3	gene	DOID:0051062	ischemic stroke		ISO	RGD:732750	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ischemic stroke	PMID:22639698|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31443546|PMID:32581362|PMID:33942994|PMID:36896423
8726162	Notch3	notch receptor 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:732750	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8726162	Notch3	notch receptor 3	gene	DOID:0060224	atrial fibrillation		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	PMID:22639698|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31443546|PMID:33942994|PMID:36896423
8726162	Notch3	notch receptor 3	gene	DOID:0060669	cerebral cavernous malformation		ISO	RGD:732750	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Cerebral cavernous malformation	PMID:25741868|PMID:28492532
8726162	Notch3	notch receptor 3	gene	DOID:0060785	typical adult-onset autosomal dominant demyelinating leukodystrophy		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adult onset leukodystrophy	PMID:15834040|PMID:16009764|PMID:20167921|PMID:22422895|PMID:22688109|PMID:24840674|PMID:25980907|PMID:26467025|PMID:28492532|PMID:28991717|PMID:32277177|PMID:32555735|PMID:38790158
8726162	Notch3	notch receptor 3	gene	DOID:0061227	autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1		ISO	RGD:732750	D	RGD:7240710	20250903	OMIM			
8726162	Notch3	notch receptor 3	gene	DOID:0061227	autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1 | ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1	PMID:20301673|PMID:25741868|PMID:26308724|PMID:39191170
8726162	Notch3	notch receptor 3	gene	DOID:0070207	familial partial lipodystrophy type 1		ISO	RGD:732750	D	RGD:7240710	20250827	OMIM			
8726162	Notch3	notch receptor 3	gene	DOID:0070207	familial partial lipodystrophy type 1		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 1	
8726162	Notch3	notch receptor 3	gene	DOID:0070666	infantile myofibromatosis 1		ISO	RGD:732750	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Infantile myofibromatosis 1	
8726162	Notch3	notch receptor 3	gene	DOID:0070667	infantile myofibromatosis 2		ISO	RGD:732750	D	RGD:7240710	20180130	OMIM			
8726162	Notch3	notch receptor 3	gene	DOID:0070667	infantile myofibromatosis 2		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myofibromatosis, infantile, 2	PMID:10371548|PMID:11102981|PMID:11755616|PMID:11757773|PMID:12482954|PMID:15229130|PMID:15364702|PMID:15834039|PMID:15995828|PMID:16009764|PMID:16580020|PMID:17122431|PMID:17390743|PMID:17879445|PMID:17879447|PMID:18765654|PMID:18948701|PMID:19006080|PMID:19174371|PMID:19359623|PMID:19528524|PMID:19542611|PMID:19576955|PMID:20935329|PMID:20981092|PMID:21737310|PMID:22006983|PMID:22153900|PMID:22159056|PMID:22218279|PMID:22373597|PMID:22664156|PMID:22795385|PMID:23584202|PMID:23844775|PMID:24033266|PMID:24086431|PMID:25260786|PMID:25344745|PMID:25623805|PMID:25741868|PMID:25801821|PMID:25819272|PMID:25929831|PMID:25980907|PMID:26242991|PMID:26305465|PMID:26467025|PMID:26646783|PMID:27350778|PMID:27844030|PMID:27881154|PMID:27884173|PMID:27890607|PMID:28479817|PMID:28492532|PMID:28710804|PMID:28991717|PMID:29544907|PMID:30311053|PMID:30355220|PMID:30956055|PMID:31146726|PMID:31433517|PMID:31589614|PMID:32172663|PMID:32277177|PMID:32765252|PMID:33130454|PMID:34297860|PMID:3484396|PMID:34851492|PMID:35523050|PMID:35754959|PMID:35822697|PMID:35862191|PMID:35906014|PMID:36047879|PMID:36380532|PMID:36401683|PMID:36411388|PMID:37152446|PMID:38217707|PMID:40783530|PMID:8878478|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:0080109	infantile myofibromatosis		ISO	RGD:732750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8726162	Notch3	notch receptor 3	gene	DOID:0111035	autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1		ISO	RGD:732750	D	RGD:7240710	20180130	OMIM			
8726162	Notch3	notch receptor 3	gene	DOID:0111035	autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 | ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 | ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	PMID:10227618|PMID:10371548|PMID:10802804|PMID:10854111|PMID:11102981|PMID:11755616|PMID:11757773|PMID:12136071|PMID:12146805|PMID:12482954|PMID:12810003|PMID:12821764|PMID:14710716|PMID:14714274|PMID:15229130|PMID:15350543|PMID:15364702|PMID:15834039|PMID:15995828|PMID:16009764|PMID:16193256|PMID:16580020|PMID:16730748|PMID:17122431|PMID:17218610|PMID:17390743|PMID:17879445|PMID:17879447|PMID:18386331|PMID:18765654|PMID:18803652|PMID:18948701|PMID:19006080|PMID:19080749|PMID:19174371|PMID:19180562|PMID:19359623|PMID:19417009|PMID:19488902|PMID:19528524|PMID:19542611|PMID:19576955|PMID:20164846|PMID:20167921|PMID:20301673|PMID:20935329|PMID:20981092|PMID:21078731|PMID:21555590|PMID:21616505|PMID:21737310|PMID:22006983|PMID:22053260|PMID:22153900|PMID:22159056|PMID:22218279|PMID:22373597|PMID:22664156|PMID:22688109|PMID:22795385|PMID:23025651|PMID:23584202|PMID:23639391|PMID:23844775|PMID:24000151|PMID:24033266|PMID:24086431|PMID:24139282|PMID:24844136|PMID:24936512|PMID:25105908|PMID:25260786|PMID:25344745|PMID:25394726|PMID:25604251|PMID:25623805|PMID:25741868|PMID:25801821|PMID:25819272|PMID:25907971|PMID:25914166|PMID:25929831|PMID:25980907|PMID:26002683|PMID:26242991|PMID:26305465|PMID:26308724|PMID:26467025|PMID:26646783|PMID:26856460|PMID:26889213|PMID:27174004|PMID:27350778|PMID:27770446|PMID:27781952|PMID:27844030|PMID:27881154|PMID:27884173|PMID:27890607|PMID:28479817|PMID:28492532|PMID:28710804|PMID:28991717|PMID:29363903|PMID:29370179|PMID:29544907|PMID:29980472|PMID:30029640|PMID:30032161|PMID:30311053|PMID:30355220|PMID:30402942|PMID:30859180|PMID:30924900|PMID:30956055|PMID:31146726|PMID:31182772|PMID:31339861|PMID:31418856|PMID:31433517|PMID:31443546|PMID:31589614|PMID:31680059|PMID:31915071|PMID:31996268|PMID:32141180|PMID:32172663|PMID:32277177|PMID:32321774|PMID:32414585|PMID:32457593|PMID:32555735|PMID:32765252|PMID:33061333|PMID:33130454|PMID:33665345|PMID:33716917|PMID:33889936|PMID:33942994|PMID:34297860|PMID:34335700|PMID:34551193|PMID:34741685|PMID:3484396|PMID:34851492|PMID:35000612|PMID:35401403|PMID:35523050|PMID:35641310|PMID:35754959|PMID:35775048|PMID:35822697|PMID:35862191|PMID:35906014|PMID:36044383|PMID:36047879|PMID:36221938|PMID:36380532|PMID:36401683|PMID:36411388|PMID:36535904|PMID:37152446|PMID:37209821|PMID:37598468|PMID:37873835|PMID:38217707|PMID:38254727|PMID:38790158|PMID:39031358|PMID:39201482|PMID:39583652|PMID:39864627|PMID:40783530|PMID:41300806|PMID:8878478|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:0111036	autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2		ISO	RGD:732750	D	RGD:8554872	20230425	ClinVar		ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2	PMID:28492532
8726162	Notch3	notch receptor 3	gene	DOID:0111343	lateral meningocele syndrome		ISO	RGD:732750	D	RGD:7240710	20180130	OMIM			
8726162	Notch3	notch receptor 3	gene	DOID:0111343	lateral meningocele syndrome		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LATERAL MENINGOCELE SYNDROME | ClinVar Annotator: match by term: Lateral meningocele syndrome	PMID:10371548|PMID:11102981|PMID:11755616|PMID:11757773|PMID:12482954|PMID:15229130|PMID:15364702|PMID:15666314|PMID:15834039|PMID:15995828|PMID:16009764|PMID:16580020|PMID:17122431|PMID:17390743|PMID:17879445|PMID:17879447|PMID:18765654|PMID:18948701|PMID:19006080|PMID:19174371|PMID:19359623|PMID:19528524|PMID:19542611|PMID:19576955|PMID:20935329|PMID:20981092|PMID:21737310|PMID:22006983|PMID:22153900|PMID:22159056|PMID:22218279|PMID:22373597|PMID:22664156|PMID:22795385|PMID:23584202|PMID:23844775|PMID:24033266|PMID:24086431|PMID:25260786|PMID:25344745|PMID:25394726|PMID:25623805|PMID:25741868|PMID:25801821|PMID:25819272|PMID:25929831|PMID:25980907|PMID:26242991|PMID:26305465|PMID:26467025|PMID:26646783|PMID:26754023|PMID:27350778|PMID:27844030|PMID:27881154|PMID:27884173|PMID:27890607|PMID:28479817|PMID:28492532|PMID:28710804|PMID:28991717|PMID:29544907|PMID:30311053|PMID:30355220|PMID:30956055|PMID:31146726|PMID:31433517|PMID:31589614|PMID:32141180|PMID:32172663|PMID:32277177|PMID:32765252|PMID:33130454|PMID:34297860|PMID:3484396|PMID:34851492|PMID:35523050|PMID:35754959|PMID:35822697|PMID:35862191|PMID:35906014|PMID:36047879|PMID:36380532|PMID:36401683|PMID:36411388|PMID:37152446|PMID:38217707|PMID:40783530|PMID:8878478|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:0112313	brain small vessel disease		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral small vessel disease	PMID:20038773|PMID:22006983|PMID:24086431|PMID:25623805|PMID:25741868|PMID:25929831|PMID:26270344|PMID:26467025|PMID:27881154|PMID:28492532|PMID:31799216|PMID:32573853|PMID:38790158|PMID:40786864|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:10024	migraine with aura		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine with aura	PMID:22639698|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31443546|PMID:32581362|PMID:33942994|PMID:36896423
8726162	Notch3	notch receptor 3	gene	DOID:10283	prostate cancer		ISO	RGD:732750	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:15364702|PMID:16328531|PMID:23265383|PMID:25033846|PMID:26308724|PMID:26467025|PMID:7732783
8726162	Notch3	notch receptor 3	gene	DOID:10534	stomach cancer		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8726162	Notch3	notch receptor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8726162	Notch3	notch receptor 3	gene	DOID:1115	sarcoma		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726162	Notch3	notch receptor 3	gene	DOID:11155	hypohidrosis		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:26467025|PMID:27844030
8726162	Notch3	notch receptor 3	gene	DOID:11830	myopia		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:11102981|PMID:11755616|PMID:11757773|PMID:12482954|PMID:12821764|PMID:16580020|PMID:17390743|PMID:18948701|PMID:19174371|PMID:19576955|PMID:20167921|PMID:21737310|PMID:24086431|PMID:25741868|PMID:26467025|PMID:27350778|PMID:28479817|PMID:28492532|PMID:28710804|PMID:28991717|PMID:30311053|PMID:30956055|PMID:31680059|PMID:31915071|PMID:32277177|PMID:32765252|PMID:35754959|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:12176	goiter		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:11755616|PMID:11757773|PMID:12482954|PMID:16580020|PMID:17390743|PMID:18948701|PMID:19576955|PMID:21737310|PMID:25741868|PMID:26467025|PMID:27350778|PMID:28479817|PMID:28492532|PMID:28710804|PMID:28991717|PMID:30311053|PMID:30956055|PMID:32277177|PMID:32765252|PMID:35754959|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:11102981|PMID:11755616|PMID:15364702|PMID:16009764|PMID:17122431|PMID:19174371|PMID:19359623|PMID:22218279|PMID:23584202|PMID:23844775|PMID:24086431|PMID:25344745|PMID:25741868|PMID:25929831|PMID:26467025|PMID:26646783|PMID:27844030|PMID:28492532|PMID:28710804|PMID:30355220|PMID:31146726|PMID:32172663|PMID:33130454|PMID:35523050|PMID:36047879|PMID:36380532|PMID:36411388|PMID:37152446|PMID:38217707|PMID:40783530|PMID:8878478|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:12849	autistic disorder		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:26467025|PMID:28492532
8726162	Notch3	notch receptor 3	gene	DOID:1307	dementia		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dementia	PMID:11102981|PMID:11755616|PMID:15364702|PMID:16009764|PMID:17122431|PMID:19174371|PMID:19359623|PMID:22218279|PMID:23584202|PMID:23844775|PMID:24086431|PMID:25344745|PMID:25741868|PMID:25929831|PMID:26467025|PMID:26646783|PMID:27844030|PMID:28492532|PMID:28710804|PMID:30355220|PMID:31146726|PMID:32172663|PMID:33130454|PMID:35523050|PMID:36047879|PMID:36380532|PMID:36411388|PMID:37152446|PMID:38217707|PMID:40783530|PMID:8878478|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:13096	Sneddon syndrome		ISO	RGD:732750	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement	PMID:17879445|PMID:17879447|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34851492
8726162	Notch3	notch receptor 3	gene	DOID:1324	lung cancer		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8726162	Notch3	notch receptor 3	gene	DOID:13945	CADASIL		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CADASIL | ClinVar Annotator: match by term: CASIL | ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	PMID:10371548|PMID:10802804|PMID:10854111|PMID:11102981|PMID:11755616|PMID:11784372|PMID:12146805|PMID:12395806|PMID:12810003|PMID:14710716|PMID:14714274|PMID:15229130|PMID:15364702|PMID:15834039|PMID:16009764|PMID:16193256|PMID:16791082|PMID:17729386|PMID:19006080|PMID:19174371|PMID:19539236|PMID:19542611|PMID:20167921|PMID:20301673|PMID:20329594|PMID:20935329|PMID:21387384|PMID:22422895|PMID:22664156|PMID:23025651|PMID:23028706|PMID:23064698|PMID:23649698|PMID:24344756|PMID:25096610|PMID:25623805|PMID:25741868|PMID:25980907|PMID:26261665|PMID:26305465|PMID:26308724|PMID:26467025|PMID:26618768|PMID:26843489|PMID:26912635|PMID:27206574|PMID:27844030|PMID:27890607|PMID:28492532|PMID:28534048|PMID:28601945|PMID:28710804|PMID:29370179|PMID:30402942|PMID:31212292|PMID:31433517|PMID:31589614|PMID:31813735|PMID:31915071|PMID:32277177|PMID:32387185|PMID:32457593|PMID:32470649|PMID:32552418|PMID:34297860|PMID:34335700|PMID:34691145|PMID:34851492|PMID:35202003|PMID:35822697|PMID:35862191|PMID:35906014|PMID:36047879|PMID:36221938|PMID:36380532|PMID:36401683|PMID:36606642|PMID:38217707|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8726162	Notch3	notch receptor 3	gene	DOID:1596	depressive disorder		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Depression	PMID:10371548|PMID:11102981|PMID:12821764|PMID:15229130|PMID:15364702|PMID:15834039|PMID:16009764|PMID:19174371|PMID:20167921|PMID:20935329|PMID:21616505|PMID:22664156|PMID:24086431|PMID:25623805|PMID:25741868|PMID:26305465|PMID:26467025|PMID:27844030|PMID:27890607|PMID:28492532|PMID:28710804|PMID:31433517|PMID:31589614|PMID:31680059|PMID:31915071|PMID:32277177|PMID:32581362|PMID:34297860|PMID:35822697|PMID:35862191|PMID:35906014|PMID:36401683|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:732750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27923803
8726162	Notch3	notch receptor 3	gene	DOID:1826	epilepsy		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizures	PMID:10371548|PMID:11102981|PMID:11755616|PMID:11757773|PMID:12482954|PMID:15229130|PMID:15364702|PMID:15834039|PMID:16009764|PMID:16580020|PMID:17122431|PMID:17390743|PMID:18948701|PMID:19174371|PMID:19359623|PMID:19576955|PMID:20935329|PMID:21737310|PMID:22218279|PMID:22664156|PMID:23584202|PMID:23844775|PMID:24086431|PMID:25344745|PMID:25623805|PMID:25741868|PMID:25929831|PMID:26305465|PMID:26467025|PMID:26646783|PMID:27350778|PMID:27844030|PMID:27890607|PMID:28479817|PMID:28492532|PMID:28710804|PMID:28991717|PMID:30311053|PMID:30355220|PMID:30956055|PMID:31146726|PMID:31433517|PMID:31589614|PMID:32172663|PMID:32277177|PMID:32765252|PMID:33130454|PMID:34297860|PMID:35523050|PMID:35754959|PMID:35822697|PMID:35862191|PMID:35906014|PMID:36047879|PMID:36380532|PMID:36401683|PMID:36411388|PMID:37152446|PMID:38217707|PMID:40783530|PMID:8878478|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:1909	melanoma		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
8726162	Notch3	notch receptor 3	gene	DOID:1936	atherosclerosis		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atherosclerosis	PMID:10371548|PMID:11102981|PMID:15229130|PMID:15364702|PMID:15834039|PMID:16009764|PMID:19174371|PMID:20935329|PMID:22664156|PMID:25623805|PMID:25741868|PMID:26305465|PMID:26467025|PMID:27844030|PMID:27890607|PMID:28492532|PMID:28710804|PMID:31433517|PMID:31589614|PMID:32277177|PMID:34297860|PMID:35822697|PMID:35862191|PMID:35906014|PMID:36401683
8726162	Notch3	notch receptor 3	gene	DOID:2030	anxiety disorder		ISO	RGD:732750	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:11102981|PMID:11559313|PMID:12821764|PMID:14714274|PMID:15694192|PMID:16009764|PMID:16580020|PMID:19174371|PMID:19293235|PMID:20167921|PMID:22082899|PMID:24086431|PMID:25741868|PMID:25914166|PMID:26467025|PMID:27844030|PMID:27881154|PMID:27890607|PMID:28334938|PMID:28492532|PMID:28710804|PMID:31680059|PMID:31915071|PMID:32055601|PMID:32277177|PMID:32555735|PMID:33305890|PMID:33505295|PMID:35822697|PMID:37970308|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:224	transient cerebral ischemia		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Transient ischemic attack | ClinVar Annotator: match by term: transient ischemic attack	PMID:25741868|PMID:26467025|PMID:28492532
8726162	Notch3	notch receptor 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8726162	Notch3	notch receptor 3	gene	DOID:3068	glioblastoma		ISO	RGD:732750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21127729
8726162	Notch3	notch receptor 3	gene	DOID:3210	Pelizaeus-Merzbacher disease		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease	PMID:10227618|PMID:10854111|PMID:11102981|PMID:12810003|PMID:15364702|PMID:16009764|PMID:19180562|PMID:22664156|PMID:25741868|PMID:26467025|PMID:28492532
8726162	Notch3	notch receptor 3	gene	DOID:3527	cerebral arterial disease		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral arterial disease	PMID:22639698|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31443546|PMID:33942994|PMID:36896423
8726162	Notch3	notch receptor 3	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:732750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208345
8726162	Notch3	notch receptor 3	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:732750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151357
8726162	Notch3	notch receptor 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8726162	Notch3	notch receptor 3	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:732750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21994468
8726162	Notch3	notch receptor 3	gene	DOID:4362	cervical cancer		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8726162	Notch3	notch receptor 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8726162	Notch3	notch receptor 3	gene	DOID:5041	esophageal cancer		ISO	RGD:732750	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8726162	Notch3	notch receptor 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8726162	Notch3	notch receptor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726162	Notch3	notch receptor 3	gene	DOID:576	proteinuria		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868
8726162	Notch3	notch receptor 3	gene	DOID:630	genetic disease		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19539236|PMID:19855400|PMID:20167921|PMID:22495309|PMID:24000151|PMID:24936512|PMID:25394726|PMID:25741868|PMID:25870235|PMID:26467025|PMID:28492532
8726162	Notch3	notch receptor 3	gene	DOID:6364	migraine		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868|PMID:32581362
8726162	Notch3	notch receptor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8726162	Notch3	notch receptor 3	gene	DOID:7998	hyperthyroidism		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:11755616|PMID:11757773|PMID:12482954|PMID:16580020|PMID:17390743|PMID:18948701|PMID:19576955|PMID:21737310|PMID:25741868|PMID:26467025|PMID:27350778|PMID:27844030|PMID:28479817|PMID:28492532|PMID:28710804|PMID:28991717|PMID:30311053|PMID:30956055|PMID:32277177|PMID:32765252|PMID:35754959|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:865	vasculitis		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vasculitis	PMID:11102981|PMID:11755616|PMID:15364702|PMID:16009764|PMID:17122431|PMID:19174371|PMID:19359623|PMID:22218279|PMID:23584202|PMID:23844775|PMID:24086431|PMID:25344745|PMID:25741868|PMID:25929831|PMID:26467025|PMID:26646783|PMID:27844030|PMID:28492532|PMID:28710804|PMID:30355220|PMID:31146726|PMID:32172663|PMID:33130454|PMID:35523050|PMID:36047879|PMID:36380532|PMID:36411388|PMID:37152446|PMID:38217707|PMID:40783530|PMID:8878478|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:9000348	Confusion		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Confusion	PMID:11755616|PMID:11757773|PMID:12482954|PMID:16580020|PMID:17390743|PMID:18948701|PMID:19576955|PMID:21737310|PMID:25741868|PMID:26467025|PMID:27350778|PMID:28479817|PMID:28492532|PMID:28710804|PMID:28991717|PMID:30311053|PMID:30956055|PMID:32277177|PMID:32765252|PMID:35754959|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:9000641	Pain		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pain	PMID:11102981|PMID:11755616|PMID:15364702|PMID:16009764|PMID:17122431|PMID:19174371|PMID:19359623|PMID:22218279|PMID:23584202|PMID:23844775|PMID:24086431|PMID:25344745|PMID:25741868|PMID:25929831|PMID:26467025|PMID:26646783|PMID:27844030|PMID:28492532|PMID:28710804|PMID:30355220|PMID:31146726|PMID:32172663|PMID:33130454|PMID:35523050|PMID:36047879|PMID:36380532|PMID:36411388|PMID:37152446|PMID:38217707|PMID:40783530|PMID:8878478|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:11102981|PMID:12821764|PMID:19174371|PMID:20167921|PMID:24086431|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31680059|PMID:31915071|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:9001239	Delayed Puberty		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:11755616|PMID:11757773|PMID:12482954|PMID:16580020|PMID:17390743|PMID:18948701|PMID:19576955|PMID:21737310|PMID:25741868|PMID:26467025|PMID:27350778|PMID:28479817|PMID:28492532|PMID:28710804|PMID:28991717|PMID:30311053|PMID:30956055|PMID:32277177|PMID:32765252|PMID:35754959|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:22159056|PMID:25741868|PMID:26242991|PMID:26467025|PMID:28492532
8726162	Notch3	notch receptor 3	gene	DOID:9001890	Auditory Neuropathy		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Auditory neuropathy	PMID:24000151|PMID:25741868
8726162	Notch3	notch receptor 3	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868|PMID:26467025|PMID:28492532
8726162	Notch3	notch receptor 3	gene	DOID:9002079	Paresis		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiparesis	PMID:22639698|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31443546|PMID:33942994|PMID:36896423
8726162	Notch3	notch receptor 3	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	PMID:10371548|PMID:10854111|PMID:11102981|PMID:11755616|PMID:15229130|PMID:15364702|PMID:15834039|PMID:16009764|PMID:16730748|PMID:19174371|PMID:20935329|PMID:22664156|PMID:25623805|PMID:25741868|PMID:26305465|PMID:26467025|PMID:26856460|PMID:27844030|PMID:27890607|PMID:28479817|PMID:28492532|PMID:28710804|PMID:29363903|PMID:29980472|PMID:30402942|PMID:31418856|PMID:31433517|PMID:31589614|PMID:32277177|PMID:33061333|PMID:34297860|PMID:34335700|PMID:34741685|PMID:34851492|PMID:35775048|PMID:35822697|PMID:35862191|PMID:35906014|PMID:36401683|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:10712431|PMID:10854111|PMID:11102981|PMID:11755616|PMID:12146805|PMID:12821764|PMID:15229130|PMID:15364702|PMID:16009764|PMID:16730748|PMID:19174371|PMID:19245392|PMID:20167921|PMID:20935329|PMID:23623146|PMID:24086431|PMID:25741868|PMID:26467025|PMID:26856460|PMID:28479817|PMID:28492532|PMID:28710804|PMID:29363903|PMID:29980472|PMID:30402942|PMID:31418856|PMID:31433517|PMID:31680059|PMID:31915071|PMID:32277177|PMID:32581362|PMID:33061333|PMID:33216222|PMID:34335700|PMID:34741685|PMID:34851492|PMID:35775048|PMID:35822697|PMID:36047879|PMID:36380532|PMID:36401683|PMID:37873835|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:9003126	Hallucinations		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:11102981|PMID:12810003|PMID:12821764|PMID:15364702|PMID:16256149|PMID:16717210|PMID:17761910|PMID:19174371|PMID:20167921|PMID:24086431|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31680059|PMID:31915071|PMID:32555735|PMID:34741685|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:9003208	Progressive Psychomotor Deterioration		ISO	RGD:732750	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Progressive psychomotor deterioration	PMID:32581362
8726162	Notch3	notch receptor 3	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:732750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27923803
8726162	Notch3	notch receptor 3	gene	DOID:9004692	Fused Teeth		ISO	RGD:732750	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Teeth, fused	PMID:25394726|PMID:25741868|PMID:32141180
8726162	Notch3	notch receptor 3	gene	DOID:9004751	Nausea		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nausea	PMID:25741868
8726162	Notch3	notch receptor 3	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:732750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17804716
8726162	Notch3	notch receptor 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hypotonia	
8726162	Notch3	notch receptor 3	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:620761	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:carotid artery	PMID:11971902|REF_RGD_ID:625426
8726162	Notch3	notch receptor 3	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:10854111|PMID:11102981|PMID:11755616|PMID:15229130|PMID:15364702|PMID:16009764|PMID:16730748|PMID:20935329|PMID:25741868|PMID:26467025|PMID:26856460|PMID:28479817|PMID:28492532|PMID:28710804|PMID:29363903|PMID:29980472|PMID:30402942|PMID:31418856|PMID:31433517|PMID:32277177|PMID:33061333|PMID:34335700|PMID:34741685|PMID:34851492|PMID:35775048|PMID:35822697|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:9006617	Fatigue		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:11755616|PMID:11757773|PMID:12482954|PMID:16580020|PMID:17390743|PMID:18948701|PMID:19576955|PMID:21737310|PMID:25741868|PMID:26467025|PMID:27350778|PMID:28479817|PMID:28492532|PMID:28710804|PMID:28991717|PMID:30311053|PMID:30956055|PMID:32277177|PMID:32765252|PMID:35754959|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8726162	Notch3	notch receptor 3	gene	DOID:9007614	Paroxysmal Atrial Fibrillation		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Paroxysmal atrial fibrillation	PMID:10371548|PMID:11102981|PMID:15229130|PMID:15364702|PMID:15834039|PMID:16009764|PMID:19174371|PMID:20935329|PMID:22664156|PMID:25623805|PMID:25741868|PMID:26305465|PMID:26467025|PMID:27844030|PMID:27890607|PMID:28492532|PMID:28710804|PMID:31433517|PMID:31589614|PMID:32277177|PMID:34297860|PMID:35822697|PMID:35862191|PMID:35906014|PMID:36401683
8726162	Notch3	notch receptor 3	gene	DOID:9007736	Vertigo		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868
8726162	Notch3	notch receptor 3	gene	DOID:9008023	Memory Disorders		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:10854111|PMID:11102981|PMID:11755616|PMID:11757773|PMID:12482954|PMID:12821764|PMID:15229130|PMID:15364702|PMID:16009764|PMID:16580020|PMID:16730748|PMID:17390743|PMID:18948701|PMID:19174371|PMID:19576955|PMID:20167921|PMID:20935329|PMID:21737310|PMID:24086431|PMID:25741868|PMID:26467025|PMID:26856460|PMID:27350778|PMID:27844030|PMID:28479817|PMID:28492532|PMID:28710804|PMID:28991717|PMID:29363903|PMID:29980472|PMID:30311053|PMID:30402942|PMID:30956055|PMID:31418856|PMID:31433517|PMID:31680059|PMID:31915071|PMID:32277177|PMID:32765252|PMID:33061333|PMID:34335700|PMID:34741685|PMID:34851492|PMID:35754959|PMID:35775048|PMID:35822697|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732750	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25394726|PMID:25741868|PMID:32141180
8726162	Notch3	notch receptor 3	gene	DOID:9008339	Tension-Type Headache		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tension-type headache	PMID:25741868
8726162	Notch3	notch receptor 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21036696
8726162	Notch3	notch receptor 3	gene	DOID:936	brain disease		ISO	RGD:732750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:11102981|PMID:11755616|PMID:11757773|PMID:12482954|PMID:12821764|PMID:16580020|PMID:17390743|PMID:18948701|PMID:19174371|PMID:19576955|PMID:20167921|PMID:21737310|PMID:24086431|PMID:25741868|PMID:26467025|PMID:27350778|PMID:28479817|PMID:28492532|PMID:28710804|PMID:28991717|PMID:30311053|PMID:30956055|PMID:31680059|PMID:31915071|PMID:32277177|PMID:32765252|PMID:35754959|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:9834	hyperopia		ISO	RGD:732750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:11102981|PMID:12821764|PMID:19174371|PMID:20167921|PMID:24086431|PMID:25741868|PMID:26467025|PMID:27844030|PMID:28492532|PMID:31680059|PMID:31915071|PMID:9388399
8726162	Notch3	notch receptor 3	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1552400	D	RGD:9068941	20240425	MouseDO		OMIM:247640 | OMIM:613065	
8726211	Aurka	aurora kinase A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8726211	Aurka	aurora kinase A	gene	DOID:0080600	COVID-19		ISO	RGD:1353168	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8726211	Aurka	aurora kinase A	gene	DOID:10534	stomach cancer		ISO	RGD:1353168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8726211	Aurka	aurora kinase A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8726211	Aurka	aurora kinase A	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1353168	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:urinary bladder	PMID:18485461|REF_RGD_ID:2293871
8726211	Aurka	aurora kinase A	gene	DOID:1909	melanoma		ISO	RGD:1353168	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
8726211	Aurka	aurora kinase A	gene	DOID:2152	ovary epithelial cancer	disease_progression	ISO	RGD:1353168	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:ovary	PMID:18314619|REF_RGD_ID:2293872
8726211	Aurka	aurora kinase A	gene	DOID:219	colon cancer		ISO	RGD:1353168	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COLON CANCER, SUSCEPTIBILITY TO	PMID:25741868
8726211	Aurka	aurora kinase A	gene	DOID:2394	ovarian cancer	susceptibility	ISO	RGD:1353168	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:p.F31I	PMID:15466974|REF_RGD_ID:2293884
8726211	Aurka	aurora kinase A	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1353168	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:endometrium	PMID:16311121|REF_RGD_ID:2293878
8726211	Aurka	aurora kinase A	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1353168	D	RGD:9068941	20200609	RGD		protein:altered expression	PMID:14693746|REF_RGD_ID:1643348
8726211	Aurka	aurora kinase A	gene	DOID:363	uterine cancer	susceptibility	ISO	RGD:1353168	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:p.F31I	PMID:17599395|REF_RGD_ID:2293873
8726211	Aurka	aurora kinase A	gene	DOID:4362	cervical cancer		ISO	RGD:1353168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8726211	Aurka	aurora kinase A	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1353168	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney	PMID:17349527|REF_RGD_ID:1643346
8726211	Aurka	aurora kinase A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8726211	Aurka	aurora kinase A	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1353168	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864405
8726211	Aurka	aurora kinase A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726211	Aurka	aurora kinase A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8726211	Aurka	aurora kinase A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8726211	Aurka	aurora kinase A	gene	DOID:769	neuroblastoma		ISO	RGD:1353168	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:22588779
8726211	Aurka	aurora kinase A	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:1353168	D	RGD:9068941	20200609	RGD			PMID:16707419|REF_RGD_ID:2293877
8726211	Aurka	aurora kinase A	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:1353168	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:15754349|REF_RGD_ID:2293883
8726211	Aurka	aurora kinase A	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1353168	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:18497064
8726211	Aurka	aurora kinase A	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1353168	D	RGD:9068941	20200609	RGD			PMID:16707419|REF_RGD_ID:2293877
8726211	Aurka	aurora kinase A	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1353168	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:15754349|REF_RGD_ID:2293883
8726211	Aurka	aurora kinase A	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1353168	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:17898866
8726211	Aurka	aurora kinase A	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1552819	D	RGD:9068941	20200609	RGD			PMID:16707419|REF_RGD_ID:2293877
8726211	Aurka	aurora kinase A	gene	DOID:9003882	Chromosomal Instability		ISO	RGD:1353168	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:24976383
8726211	Aurka	aurora kinase A	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1353168	D	RGD:9068941	20200626	RGD		mRNA:increased expression:CD19+Bcell:	PMID:20189883|REF_RGD_ID:32716380
8726211	Aurka	aurora kinase A	gene	DOID:9004643	Urologic Neoplasms	disease_progression	ISO	RGD:1353168	D	RGD:9068941	20200609	RGD			PMID:17465238|REF_RGD_ID:2293874
8726211	Aurka	aurora kinase A	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1353168	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:12124350
8726211	Aurka	aurora kinase A	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1353168	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:24976383
8726211	Aurka	aurora kinase A	gene	DOID:9008692	Aneuploidy		ISO	RGD:1353168	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:24976383
8726211	Aurka	aurora kinase A	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1353168	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:18497064
8726211	Aurka	aurora kinase A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8726211	Aurka	aurora kinase A	gene	DOID:9256	colorectal cancer		ISO	RGD:1353168	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
8726211	Aurka	aurora kinase A	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1353168	D	RGD:7240710	20230505	OMIM			
8726211	Aurka	aurora kinase A	gene	DOID:9538	multiple myeloma		ISO	RGD:1353168	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
8726239	Maea	macrophage erythroblast attacher, E3 ubiquitin ligase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8726239	Maea	macrophage erythroblast attacher, E3 ubiquitin ligase	gene	DOID:1115	sarcoma		ISO	RGD:1320456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726239	Maea	macrophage erythroblast attacher, E3 ubiquitin ligase	gene	DOID:1909	melanoma		ISO	RGD:1320456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8726239	Maea	macrophage erythroblast attacher, E3 ubiquitin ligase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8726239	Maea	macrophage erythroblast attacher, E3 ubiquitin ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726239	Maea	macrophage erythroblast attacher, E3 ubiquitin ligase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320456	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8726239	Maea	macrophage erythroblast attacher, E3 ubiquitin ligase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8726239	Maea	macrophage erythroblast attacher, E3 ubiquitin ligase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1320456	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22158537
8726272	Otud7b	OTU deubiquitinase 7B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8726272	Otud7b	OTU deubiquitinase 7B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8726272	Otud7b	OTU deubiquitinase 7B	gene	DOID:1115	sarcoma		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726272	Otud7b	OTU deubiquitinase 7B	gene	DOID:1324	lung cancer		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8726272	Otud7b	OTU deubiquitinase 7B	gene	DOID:1909	melanoma		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8726272	Otud7b	OTU deubiquitinase 7B	gene	DOID:2394	ovarian cancer		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8726272	Otud7b	OTU deubiquitinase 7B	gene	DOID:3275	thymoma		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8726272	Otud7b	OTU deubiquitinase 7B	gene	DOID:4362	cervical cancer		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8726272	Otud7b	OTU deubiquitinase 7B	gene	DOID:5041	esophageal cancer		ISO	RGD:1352780	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8726272	Otud7b	OTU deubiquitinase 7B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8726272	Otud7b	OTU deubiquitinase 7B	gene	DOID:9001981	Weight Loss		ISO	RGD:1352780	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: therapeutic	PMID:36639017
8726297	Nsun4	NOP2/Sun RNA methyltransferase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8726297	Nsun4	NOP2/Sun RNA methyltransferase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1343230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8726297	Nsun4	NOP2/Sun RNA methyltransferase 4	gene	DOID:1115	sarcoma		ISO	RGD:1343230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726297	Nsun4	NOP2/Sun RNA methyltransferase 4	gene	DOID:1324	lung cancer		ISO	RGD:1343230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8726297	Nsun4	NOP2/Sun RNA methyltransferase 4	gene	DOID:1909	melanoma		ISO	RGD:1343230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8726297	Nsun4	NOP2/Sun RNA methyltransferase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8726297	Nsun4	NOP2/Sun RNA methyltransferase 4	gene	DOID:3275	thymoma		ISO	RGD:1343230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8726297	Nsun4	NOP2/Sun RNA methyltransferase 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343230	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8726297	Nsun4	NOP2/Sun RNA methyltransferase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726297	Nsun4	NOP2/Sun RNA methyltransferase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8726297	Nsun4	NOP2/Sun RNA methyltransferase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8726313	Ube2e3	ubiquitin conjugating enzyme E2 E3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8726313	Ube2e3	ubiquitin conjugating enzyme E2 E3	gene	DOID:5041	esophageal cancer		ISO	RGD:1318925	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8726313	Ube2e3	ubiquitin conjugating enzyme E2 E3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8726313	Ube2e3	ubiquitin conjugating enzyme E2 E3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8726338	Anapc4	anaphase promoting complex subunit 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8726338	Anapc4	anaphase promoting complex subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8726338	Anapc4	anaphase promoting complex subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726338	Anapc4	anaphase promoting complex subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8726338	Anapc4	anaphase promoting complex subunit 4	gene	DOID:1909	melanoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8726338	Anapc4	anaphase promoting complex subunit 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8726338	Anapc4	anaphase promoting complex subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8726338	Anapc4	anaphase promoting complex subunit 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8726338	Anapc4	anaphase promoting complex subunit 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8726338	Anapc4	anaphase promoting complex subunit 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1315264	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8726338	Anapc4	anaphase promoting complex subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726338	Anapc4	anaphase promoting complex subunit 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8726338	Anapc4	anaphase promoting complex subunit 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8726338	Anapc4	anaphase promoting complex subunit 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8726338	Anapc4	anaphase promoting complex subunit 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8726338	Anapc4	anaphase promoting complex subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8726338	Anapc4	anaphase promoting complex subunit 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8726390	Majin	membrane anchored junction protein	gene	DOID:1324	lung cancer		ISO	RGD:1604186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8726390	Majin	membrane anchored junction protein	gene	DOID:4362	cervical cancer		ISO	RGD:1604186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8726390	Majin	membrane anchored junction protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726437	Lhx2	LIM homeobox 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8726437	Lhx2	LIM homeobox 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:733849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:37057675
8726437	Lhx2	LIM homeobox 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:733849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17568789
8726437	Lhx2	LIM homeobox 2	gene	DOID:9002563	Gait Ataxia		ISO	RGD:733849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868|PMID:37057675
8726437	Lhx2	LIM homeobox 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:733849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:37057675
8726455	LOC102026345	chromosome unknown open reading frame, human C19orf44	gene	DOID:1115	sarcoma		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726455	LOC102026345	chromosome unknown open reading frame, human C19orf44	gene	DOID:1324	lung cancer		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8726455	LOC102026345	chromosome unknown open reading frame, human C19orf44	gene	DOID:1909	melanoma		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8726455	LOC102026345	chromosome unknown open reading frame, human C19orf44	gene	DOID:3275	thymoma		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8726455	LOC102026345	chromosome unknown open reading frame, human C19orf44	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8726455	LOC102026345	chromosome unknown open reading frame, human C19orf44	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8726455	LOC102026345	chromosome unknown open reading frame, human C19orf44	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726455	LOC102026345	chromosome unknown open reading frame, human C19orf44	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8726455	LOC102026345	chromosome unknown open reading frame, human C19orf44	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8726455	LOC102026345	chromosome unknown open reading frame, human C19orf44	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8726480	Dck	deoxycytidine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8726480	Dck	deoxycytidine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1344747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8726480	Dck	deoxycytidine kinase	gene	DOID:1115	sarcoma		ISO	RGD:1344747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726480	Dck	deoxycytidine kinase	gene	DOID:1324	lung cancer		ISO	RGD:1344747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8726480	Dck	deoxycytidine kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8726480	Dck	deoxycytidine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1344747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8726480	Dck	deoxycytidine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726480	Dck	deoxycytidine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8726480	Dck	deoxycytidine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8726490	Mblac1	metallo-beta-lactamase domain containing 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1602638	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	
8726496	Krtcap2	keratinocyte associated protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8726496	Krtcap2	keratinocyte associated protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8726496	Krtcap2	keratinocyte associated protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8726496	Krtcap2	keratinocyte associated protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726496	Krtcap2	keratinocyte associated protein 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1318165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8726512	Rps27l	ribosomal protein S27 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8726512	Rps27l	ribosomal protein S27 like	gene	DOID:10534	stomach cancer		ISO	RGD:1344574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8726512	Rps27l	ribosomal protein S27 like	gene	DOID:3275	thymoma		ISO	RGD:1344574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8726512	Rps27l	ribosomal protein S27 like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8726512	Rps27l	ribosomal protein S27 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726512	Rps27l	ribosomal protein S27 like	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1344574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8726512	Rps27l	ribosomal protein S27 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8726520	Mlf2	myeloid leukemia factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8726520	Mlf2	myeloid leukemia factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8726520	Mlf2	myeloid leukemia factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1314832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726520	Mlf2	myeloid leukemia factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1314832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8726520	Mlf2	myeloid leukemia factor 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8726520	Mlf2	myeloid leukemia factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726520	Mlf2	myeloid leukemia factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8726546	Rbm17	RNA binding motif protein 17	gene	DOID:1324	lung cancer		ISO	RGD:1322546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8726546	Rbm17	RNA binding motif protein 17	gene	DOID:1909	melanoma		ISO	RGD:1322546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8726546	Rbm17	RNA binding motif protein 17	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8726546	Rbm17	RNA binding motif protein 17	gene	DOID:4362	cervical cancer		ISO	RGD:1322546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8726546	Rbm17	RNA binding motif protein 17	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8726546	Rbm17	RNA binding motif protein 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726546	Rbm17	RNA binding motif protein 17	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1322546	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18337722
8726546	Rbm17	RNA binding motif protein 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8726546	Rbm17	RNA binding motif protein 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8726546	Rbm17	RNA binding motif protein 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322546	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8726577	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314113	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
8726577	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8726577	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:1115	sarcoma		ISO	RGD:1314113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726577	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:1324	lung cancer		ISO	RGD:1314113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8726577	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:1909	melanoma		ISO	RGD:1314113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8726577	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8726577	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:2661	myoepithelioma		ISO	RGD:1314113	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8726577	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:3275	thymoma		ISO	RGD:1314113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8726577	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8726577	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314113	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8726577	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726577	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8726577	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8726577	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8726600	Serpina7	serpin family A member 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8726600	Serpina7	serpin family A member 7	gene	DOID:1459	hypothyroidism		ISO	RGD:619833	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:2106883|REF_RGD_ID:1600137
8726600	Serpina7	serpin family A member 7	gene	DOID:1837	diabetic ketoacidosis		ISO	RGD:1351148	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:6768790|REF_RGD_ID:2312332
8726600	Serpina7	serpin family A member 7	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351148	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:25741868|PMID:33554479
8726600	Serpina7	serpin family A member 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351148	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:33554479
8726600	Serpina7	serpin family A member 7	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1351148	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2155256
8726600	Serpina7	serpin family A member 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
8726600	Serpina7	serpin family A member 7	gene	DOID:7998	hyperthyroidism		ISO	RGD:619833	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum (rat)	PMID:2505856|REF_RGD_ID:1600139
8726600	Serpina7	serpin family A member 7	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1351148	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8726600	Serpina7	serpin family A member 7	gene	DOID:9001797	Inherited Thyroxine-Binding Globulin Deficiency		ISO	RGD:1351148	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thyroxine-binding globulin, variant P	PMID:25741868|PMID:33554479
8726600	Serpina7	serpin family A member 7	gene	DOID:9005007	Thyroxine-Binding Globulin Deficiency		ISO	RGD:1351148	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thyroxine-binding globulin deficiency, partial	
8726600	Serpina7	serpin family A member 7	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1351148	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:33554479
8726600	Serpina7	serpin family A member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8726600	Serpina7	serpin family A member 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1351148	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:33554479
8726600	Serpina7	serpin family A member 7	gene	DOID:9351	diabetes mellitus		ISO	RGD:1351148	D	RGD:9068941	20200609	RGD			PMID:8742570|REF_RGD_ID:2312329
8726600	Serpina7	serpin family A member 7	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1351148	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:1867879|REF_RGD_ID:2312330
8726609	Pwwp3b	PWWP domain containing 3B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8726609	Pwwp3b	PWWP domain containing 3B	gene	DOID:12134	factor VIII deficiency		ISO	RGD:1349980	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: HEMOPHILIA, CLASSIC	PMID:31690835
8726609	Pwwp3b	PWWP domain containing 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726609	Pwwp3b	PWWP domain containing 3B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8726609	Pwwp3b	PWWP domain containing 3B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8726626	Ptn	pleiotrophin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8726626	Ptn	pleiotrophin	gene	DOID:1115	sarcoma		ISO	RGD:736479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726626	Ptn	pleiotrophin	gene	DOID:11446	sciatic neuropathy		ISO	RGD:3444	D	RGD:9068941	20200609	RGD		mRNA:altered expression:dorsal root ganglia (rat)	PMID:18365878|REF_RGD_ID:9831453
8726626	Ptn	pleiotrophin	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:3444	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:18225978|REF_RGD_ID:2316551
8726626	Ptn	pleiotrophin	gene	DOID:14330	Parkinson's disease	treatment	ISO	RGD:3444	D	RGD:9068941	20200609	RGD			PMID:19615368|REF_RGD_ID:10044022
8726626	Ptn	pleiotrophin	gene	DOID:1909	melanoma		ISO	RGD:736479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8726626	Ptn	pleiotrophin	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3444	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebral cortex, vasculature, macrophage (rat)	PMID:9570800|REF_RGD_ID:9831440
8726626	Ptn	pleiotrophin	gene	DOID:305	carcinoma		ISO	RGD:736479	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8726626	Ptn	pleiotrophin	gene	DOID:3068	glioblastoma		ISO	RGD:736479	D	RGD:9068941	20220310	RGD		protein:increased expression:brain (human)	PMID:14692702|REF_RGD_ID:151660507
8726626	Ptn	pleiotrophin	gene	DOID:3950	adrenal carcinoma		ISO	RGD:736479	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:1464602|REF_RGD_ID:9831442
8726626	Ptn	pleiotrophin	gene	DOID:5082	liver cirrhosis		ISO	RGD:3444	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:18381592|REF_RGD_ID:9834946
8726626	Ptn	pleiotrophin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726626	Ptn	pleiotrophin	gene	DOID:5844	myocardial infarction		ISO	RGD:3444	D	RGD:9068941	20200609	RGD		protein:increased expression:myocardium (rat)	PMID:17925408|REF_RGD_ID:10044023
8726626	Ptn	pleiotrophin	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:736479	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8726626	Ptn	pleiotrophin	gene	DOID:9000641	Pain	severity	ISO	RGD:11190	D	RGD:9068941	20200609	RGD			PMID:20826137|REF_RGD_ID:10043829
8726626	Ptn	pleiotrophin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736479	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8726626	Ptn	pleiotrophin	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:3444	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord (rat)	PMID:9814819|REF_RGD_ID:9831448
8726626	Ptn	pleiotrophin	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:3444	D	RGD:9068941	20200609	RGD		protein:increased expression:heart left ventricle (rat)	PMID:21224495|REF_RGD_ID:10043833
8726626	Ptn	pleiotrophin	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:736479	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8726626	Ptn	pleiotrophin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8726626	Ptn	pleiotrophin	gene	DOID:9007090	Experimental Seizures		ISO	RGD:3444	D	RGD:9068941	20241214	RGD		mRNA:increased expression:hippocampus, piriform cortex (rat)	PMID:8453763|REF_RGD_ID:9831456
8726626	Ptn	pleiotrophin	gene	DOID:9007633	Body Weight		ISO	RGD:736479	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:36566969
8726626	Ptn	pleiotrophin	gene	DOID:9008444	Skeletal Muscle Injuries		ISO	RGD:3444	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:soleus muscle (rat)	PMID:15160487|REF_RGD_ID:10044016
8726639	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:0060058	lymphoma		ISO	RGD:1318860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8726639	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:0060699	familial hypocalciuric hypercalcemia		ISO	RGD:1318860	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis	PMID:25741868|PMID:28492532
8726639	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:0080600	COVID-19		ISO	RGD:1318860	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8726639	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:0111671	primary hyperoxaluria type 2		ISO	RGD:1318860	D	RGD:7240710	20180130	OMIM			
8726639	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:0111671	primary hyperoxaluria type 2		ISO	RGD:1318860	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: D-glycerate dehydrogenase deficiency | ClinVar Annotator: match by term: Primary hyperoxaluria type II | ClinVar Annotator: match by term: Primary hyperoxaluria, type II	PMID:10484776|PMID:11030416|PMID:11477177|PMID:12185464|PMID:14635115|PMID:14987413|PMID:15327387|PMID:16199547|PMID:16306119|PMID:17510093|PMID:17576681|PMID:18560364|PMID:19283374|PMID:19296982|PMID:20301742|PMID:21228398|PMID:22397991|PMID:24033266|PMID:24116921|PMID:25410531|PMID:25525159|PMID:25629080|PMID:25644115|PMID:25741868|PMID:26342005|PMID:28492532|PMID:28553045|PMID:28681512|PMID:28893421|PMID:29068142|PMID:29319775|PMID:30488096|PMID:30609409|PMID:30889567|PMID:31078535|PMID:31215412|PMID:31328266|PMID:31589614|PMID:31685312|PMID:31980526|PMID:34805638|PMID:3499572|PMID:35149915|PMID:35678848|PMID:35917078|PMID:36185032|PMID:36260161|PMID:36619171|PMID:37139236|PMID:37187295|PMID:37306718|PMID:37803380|PMID:37881736|PMID:37914965|PMID:38727838|PMID:38737343|PMID:40794449|PMID:40814648|PMID:9536098
8726639	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:1115	sarcoma		ISO	RGD:1318860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726639	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:1909	melanoma		ISO	RGD:1318860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8726639	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:2977	primary hyperoxaluria		ISO	RGD:1318860	D	RGD:9068941	20260521	RGD		type II primary hyperoxaluria, OMIM:260000    DNA:deletion:CDS:103G	PMID:10484776|REF_RGD_ID:1599318
8726639	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726639	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318860	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8726655	Slc28a1	solute carrier family 28 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8726655	Slc28a1	solute carrier family 28 member 1	gene	DOID:1115	sarcoma		ISO	RGD:733249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726655	Slc28a1	solute carrier family 28 member 1	gene	DOID:1324	lung cancer		ISO	RGD:733249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8726655	Slc28a1	solute carrier family 28 member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733249	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8726655	Slc28a1	solute carrier family 28 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726655	Slc28a1	solute carrier family 28 member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8726655	Slc28a1	solute carrier family 28 member 1	gene	DOID:9002189	High Myopia		ISO	RGD:733249	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
8726655	Slc28a1	solute carrier family 28 member 1	gene	DOID:9002276	Uridine-Cytidineuria		ISO	RGD:733249	D	RGD:7240710	20190626	OMIM			
8726655	Slc28a1	solute carrier family 28 member 1	gene	DOID:9002276	Uridine-Cytidineuria		ISO	RGD:733249	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SLC28A1-related condition | ClinVar Annotator: match by term: URIDINE-CYTIDINEURIA | ClinVar Annotator: match by term: Uridine-cytidineuria	PMID:25741868
8726655	Slc28a1	solute carrier family 28 member 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733249	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16837820
8726680	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8726680	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:1115	sarcoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726680	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:1324	lung cancer		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8726680	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:1909	melanoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8726680	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:3275	thymoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8726680	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8726680	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1318020	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8726680	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:4362	cervical cancer		ISO	RGD:1318020	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8726680	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:5041	esophageal cancer		ISO	RGD:1318020	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8726680	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726680	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8726680	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8726680	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1318020	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8726680	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8726680	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8726680	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8726704	Gna12	G protein subunit alpha 12	gene	DOID:10534	stomach cancer		ISO	RGD:732491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8726704	Gna12	G protein subunit alpha 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726704	Gna12	G protein subunit alpha 12	gene	DOID:8577	ulcerative colitis		ISO	RGD:732491	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21297633
8726704	Gna12	G protein subunit alpha 12	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:732491	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8726712	Magoh	mago homolog, exon junction complex subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8726712	Magoh	mago homolog, exon junction complex subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8726712	Magoh	mago homolog, exon junction complex subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8726712	Magoh	mago homolog, exon junction complex subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726712	Magoh	mago homolog, exon junction complex subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8726712	Magoh	mago homolog, exon junction complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8726727	Ptpn18	protein tyrosine phosphatase non-receptor type 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8726727	Ptpn18	protein tyrosine phosphatase non-receptor type 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8726727	Ptpn18	protein tyrosine phosphatase non-receptor type 18	gene	DOID:10534	stomach cancer		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8726727	Ptpn18	protein tyrosine phosphatase non-receptor type 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8726727	Ptpn18	protein tyrosine phosphatase non-receptor type 18	gene	DOID:1115	sarcoma		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726727	Ptpn18	protein tyrosine phosphatase non-receptor type 18	gene	DOID:1324	lung cancer		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8726727	Ptpn18	protein tyrosine phosphatase non-receptor type 18	gene	DOID:1909	melanoma		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8726727	Ptpn18	protein tyrosine phosphatase non-receptor type 18	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8726727	Ptpn18	protein tyrosine phosphatase non-receptor type 18	gene	DOID:3070	high grade glioma		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8726727	Ptpn18	protein tyrosine phosphatase non-receptor type 18	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8726727	Ptpn18	protein tyrosine phosphatase non-receptor type 18	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8726727	Ptpn18	protein tyrosine phosphatase non-receptor type 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1323122	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8726727	Ptpn18	protein tyrosine phosphatase non-receptor type 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726727	Ptpn18	protein tyrosine phosphatase non-receptor type 18	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323122	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8726727	Ptpn18	protein tyrosine phosphatase non-receptor type 18	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8726727	Ptpn18	protein tyrosine phosphatase non-receptor type 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8726727	Ptpn18	protein tyrosine phosphatase non-receptor type 18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8726752	Ppil4	peptidylprolyl isomerase like 4	gene	DOID:10534	stomach cancer		ISO	RGD:1322302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8726752	Ppil4	peptidylprolyl isomerase like 4	gene	DOID:1115	sarcoma		ISO	RGD:1322302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726752	Ppil4	peptidylprolyl isomerase like 4	gene	DOID:1324	lung cancer		ISO	RGD:1322302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8726752	Ppil4	peptidylprolyl isomerase like 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8726752	Ppil4	peptidylprolyl isomerase like 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8726752	Ppil4	peptidylprolyl isomerase like 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8726752	Ppil4	peptidylprolyl isomerase like 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8726779	Acaa2	acetyl-CoA acyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8726779	Acaa2	acetyl-CoA acyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:733990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8726779	Acaa2	acetyl-CoA acyltransferase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8726779	Acaa2	acetyl-CoA acyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:733990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726779	Acaa2	acetyl-CoA acyltransferase 2	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:733990	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
8726779	Acaa2	acetyl-CoA acyltransferase 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:733990	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8726779	Acaa2	acetyl-CoA acyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726779	Acaa2	acetyl-CoA acyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8726779	Acaa2	acetyl-CoA acyltransferase 2	gene	DOID:8398	osteoarthritis		ISO	RGD:733990	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8726779	Acaa2	acetyl-CoA acyltransferase 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:733990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8726779	Acaa2	acetyl-CoA acyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8726779	Acaa2	acetyl-CoA acyltransferase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:733990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8726793	Tmed5	transmembrane p24 trafficking protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8726793	Tmed5	transmembrane p24 trafficking protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1349482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726793	Tmed5	transmembrane p24 trafficking protein 5	gene	DOID:1324	lung cancer		ISO	RGD:1349482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8726793	Tmed5	transmembrane p24 trafficking protein 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8726793	Tmed5	transmembrane p24 trafficking protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726807	Fancd2	FA complementation group D2	gene	DOID:0060058	lymphoma		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:17436244|PMID:22720145|PMID:24033266|PMID:25703294|PMID:25741868|PMID:28386063|PMID:28492532
8726807	Fancd2	FA complementation group D2	gene	DOID:0111083	Fanconi anemia complementation group D2		ISO	RGD:1343234	D	RGD:7240710	20180130	OMIM			
8726807	Fancd2	FA complementation group D2	gene	DOID:0111083	Fanconi anemia complementation group D2		ISO	RGD:1343234	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP D | ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP D2 | ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 4 | ClinVar Annotator: match by term: Fanconi anemia complementation group D2 | ClinVar Annotator: match by term: Fanconi anemia, complementation group D2	PMID:11239453|PMID:16199547|PMID:17308347|PMID:17436244|PMID:17576681|PMID:22720145|PMID:22828868|PMID:23613520|PMID:24033266|PMID:25168418|PMID:25703294|PMID:25741868|PMID:27041517|PMID:27931139|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:30256826|PMID:30306255|PMID:30713837|PMID:31586946|PMID:32546565|PMID:32581362|PMID:32659967|PMID:36463940|PMID:37433680|PMID:37566130|PMID:39283238|PMID:40906985|PMID:9536098
8726807	Fancd2	FA complementation group D2	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:1343234	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group A	PMID:25168418|PMID:25741868|PMID:28492532
8726807	Fancd2	FA complementation group D2	gene	DOID:10534	stomach cancer		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8726807	Fancd2	FA complementation group D2	gene	DOID:10629	microphthalmia		ISO	RGD:1615723	D	RGD:9068941	20200609	RGD			PMID:12893777|REF_RGD_ID:11344906
8726807	Fancd2	FA complementation group D2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8726807	Fancd2	FA complementation group D2	gene	DOID:1115	sarcoma		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726807	Fancd2	FA complementation group D2	gene	DOID:11383	cryptorchidism		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
8726807	Fancd2	FA complementation group D2	gene	DOID:1324	lung cancer		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8726807	Fancd2	FA complementation group D2	gene	DOID:13636	Fanconi anemia		ISO	RGD:1343234	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:11239453|PMID:16199547|PMID:16280053|PMID:17436244|PMID:17576681|PMID:21356188|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:25927356|PMID:26633542|PMID:27041517|PMID:28492532|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30713837|PMID:31586946|PMID:33558524|PMID:9536098
8726807	Fancd2	FA complementation group D2	gene	DOID:13636	Fanconi anemia		ISO	RGD:1343234	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33558524|PMID:9536098
8726807	Fancd2	FA complementation group D2	gene	DOID:13636	Fanconi anemia		ISO	RGD:1343234	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25640679|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33558524|PMID:9536098
8726807	Fancd2	FA complementation group D2	gene	DOID:13636	Fanconi anemia		ISO	RGD:1343234	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25640679|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33558524|PMID:34585473|PMID:9536098
8726807	Fancd2	FA complementation group D2	gene	DOID:13636	Fanconi anemia		ISO	RGD:1343234	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25640679|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:30716324|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33558524|PMID:34585473|PMID:9536098
8726807	Fancd2	FA complementation group D2	gene	DOID:13636	Fanconi anemia		ISO	RGD:1343234	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17096012|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:22829014|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24584348|PMID:24728327|PMID:25640679|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:30716324|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33270637|PMID:33558524|PMID:34327028|PMID:34585473|PMID:9536098
8726807	Fancd2	FA complementation group D2	gene	DOID:13636	Fanconi anemia		ISO	RGD:1343234	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17096012|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:22829014|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24584348|PMID:24728327|PMID:25640679|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30633423|PMID:30713837|PMID:30716324|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33270637|PMID:33558524|PMID:34308104|PMID:34327028|PMID:34585473|PMID:36463940|PMID:38502138|PMID:9536098
8726807	Fancd2	FA complementation group D2	gene	DOID:13636	Fanconi anemia		ISO	RGD:1343234	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:11239453|PMID:14695169|PMID:16199547|PMID:17096012|PMID:17308347|PMID:17436244|PMID:17576681|PMID:22720145|PMID:22828868|PMID:22829014|PMID:23613520|PMID:24033266|PMID:24584348|PMID:25640679|PMID:25703294|PMID:25741868|PMID:26580448|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28195569|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:29926297|PMID:30256826|PMID:30306255|PMID:30633423|PMID:30713837|PMID:30716324|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33024263|PMID:33361032|PMID:33947352|PMID:34741701|PMID:35101336|PMID:36463940|PMID:37216690|PMID:37433680|PMID:37566130|PMID:39051418|PMID:39283238|PMID:40906985|PMID:9536098
8726807	Fancd2	FA complementation group D2	gene	DOID:1612	breast cancer		ISO	RGD:1343234	D	RGD:9068941	20260521	RGD			PMID:23897704|REF_RGD_ID:10769361
8726807	Fancd2	FA complementation group D2	gene	DOID:1612	breast cancer		ISO	RGD:1343234	D	RGD:9068941	20260521	RGD		DNA:SNP, haplotype: :rs2272125 (human)	PMID:16679306|REF_RGD_ID:11344909
8726807	Fancd2	FA complementation group D2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8726807	Fancd2	FA complementation group D2	gene	DOID:2394	ovarian cancer		ISO	RGD:1343234	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8726807	Fancd2	FA complementation group D2	gene	DOID:2841	asthma		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
8726807	Fancd2	FA complementation group D2	gene	DOID:3070	high grade glioma		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8726807	Fancd2	FA complementation group D2	gene	DOID:3275	thymoma		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8726807	Fancd2	FA complementation group D2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8726807	Fancd2	FA complementation group D2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343234	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8726807	Fancd2	FA complementation group D2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1615723	D	RGD:9068941	20200609	RGD			PMID:20935219|REF_RGD_ID:11344907
8726807	Fancd2	FA complementation group D2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1343234	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:17436244|PMID:21356188|PMID:24728327|PMID:25741868|PMID:28492532
8726807	Fancd2	FA complementation group D2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1343234	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:17436244|PMID:17576681|PMID:21356188|PMID:24728327|PMID:25741868|PMID:28492532|PMID:9536098
8726807	Fancd2	FA complementation group D2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1343234	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532
8726807	Fancd2	FA complementation group D2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:17576681|PMID:24728327|PMID:25741868|PMID:28492532|PMID:9536098
8726807	Fancd2	FA complementation group D2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1343234	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8726807	Fancd2	FA complementation group D2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726807	Fancd2	FA complementation group D2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8726807	Fancd2	FA complementation group D2	gene	DOID:630	genetic disease		ISO	RGD:1343234	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8726807	Fancd2	FA complementation group D2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8726807	Fancd2	FA complementation group D2	gene	DOID:687	hepatoblastoma		ISO	RGD:1343234	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	PMID:25741868|PMID:28492532|PMID:28678401|PMID:30306255
8726807	Fancd2	FA complementation group D2	gene	DOID:8923	skin melanoma		ISO	RGD:1343234	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:skin,nucleus:	PMID:21697891|REF_RGD_ID:11046262
8726807	Fancd2	FA complementation group D2	gene	DOID:9004030	Pituitary Stalk Interruption Syndrome		ISO	RGD:1343234	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Pituitary stalk interruption syndrome	PMID:25741868
8726807	Fancd2	FA complementation group D2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8726807	Fancd2	FA complementation group D2	gene	DOID:9006493	Glandular and Epithelial Neoplasms		ISO	RGD:1615723	D	RGD:9068941	20200609	RGD			PMID:12893777|REF_RGD_ID:11344906
8726807	Fancd2	FA complementation group D2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8726807	Fancd2	FA complementation group D2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1343234	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary cancer	PMID:25741868
8726807	Fancd2	FA complementation group D2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868|PMID:28492532
8726807	Fancd2	FA complementation group D2	gene	DOID:9008539	Perinatal Death		ISO	RGD:1615723	D	RGD:9068941	20200609	RGD			PMID:12893777|REF_RGD_ID:11344906
8726807	Fancd2	FA complementation group D2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17436244|PMID:22720145|PMID:24033266|PMID:25703294|PMID:25741868|PMID:28386063|PMID:28492532
8726807	Fancd2	FA complementation group D2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343234	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:17436244|PMID:23613520|PMID:25741868|PMID:28492532|PMID:37433680|PMID:37566130|PMID:39283238|PMID:40906985
8726807	Fancd2	FA complementation group D2	gene	DOID:9970	obesity		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
8726864	Nfatc2	nuclear factor of activated T cells 2	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1317023	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	
8726864	Nfatc2	nuclear factor of activated T cells 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317023	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8726864	Nfatc2	nuclear factor of activated T cells 2	gene	DOID:3275	thymoma		ISO	RGD:1317023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8726864	Nfatc2	nuclear factor of activated T cells 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317023	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8726864	Nfatc2	nuclear factor of activated T cells 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8726864	Nfatc2	nuclear factor of activated T cells 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726864	Nfatc2	nuclear factor of activated T cells 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1307690	D	RGD:9068941	20200609	RGD			PMID:17596340|REF_RGD_ID:1627651
8726864	Nfatc2	nuclear factor of activated T cells 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1317023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27522126
8726864	Nfatc2	nuclear factor of activated T cells 2	gene	DOID:863	nervous system disease		ISO	RGD:1317023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21245421
8726864	Nfatc2	nuclear factor of activated T cells 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8726864	Nfatc2	nuclear factor of activated T cells 2	gene	DOID:9008054	JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA		ISO	RGD:1317023	D	RGD:7240710	20230505	OMIM			
8726864	Nfatc2	nuclear factor of activated T cells 2	gene	DOID:9008054	JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA		ISO	RGD:1317023	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Joint contractures, osteochondromas, and B-cell lymphoma	PMID:25741868|PMID:35789258
8726864	Nfatc2	nuclear factor of activated T cells 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8726864	Nfatc2	nuclear factor of activated T cells 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1317023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30718926
8726904	Eloc	elongin C	gene	DOID:2394	ovarian cancer		ISO	RGD:733902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8726904	Eloc	elongin C	gene	DOID:4450	renal cell carcinoma		ISO	RGD:733902	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:23797736
8726904	Eloc	elongin C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726904	Eloc	elongin C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8726904	Eloc	elongin C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8726904	Eloc	elongin C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8726924	Eif3d	eukaryotic translation initiation factor 3 subunit D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8726924	Eif3d	eukaryotic translation initiation factor 3 subunit D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8726924	Eif3d	eukaryotic translation initiation factor 3 subunit D	gene	DOID:10534	stomach cancer		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8726924	Eif3d	eukaryotic translation initiation factor 3 subunit D	gene	DOID:10591	pre-eclampsia		ISO	RGD:1352969	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:34520790
8726924	Eif3d	eukaryotic translation initiation factor 3 subunit D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8726924	Eif3d	eukaryotic translation initiation factor 3 subunit D	gene	DOID:1115	sarcoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726924	Eif3d	eukaryotic translation initiation factor 3 subunit D	gene	DOID:3275	thymoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8726924	Eif3d	eukaryotic translation initiation factor 3 subunit D	gene	DOID:4362	cervical cancer		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8726924	Eif3d	eukaryotic translation initiation factor 3 subunit D	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8726924	Eif3d	eukaryotic translation initiation factor 3 subunit D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726924	Eif3d	eukaryotic translation initiation factor 3 subunit D	gene	DOID:6039	uveal melanoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8726924	Eif3d	eukaryotic translation initiation factor 3 subunit D	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8726924	Eif3d	eukaryotic translation initiation factor 3 subunit D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8726924	Eif3d	eukaryotic translation initiation factor 3 subunit D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8726924	Eif3d	eukaryotic translation initiation factor 3 subunit D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8726944	Rab28	RAB28, member RAS oncogene family	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:736462	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:23746546|PMID:25356532
8726944	Rab28	RAB28, member RAS oncogene family	gene	DOID:0050795	cone dystrophy		ISO	RGD:736462	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Cone dystrophy	PMID:25741868|PMID:36909829
8726944	Rab28	RAB28, member RAS oncogene family	gene	DOID:0111024	cone-rod dystrophy 18		ISO	RGD:736462	D	RGD:7240710	20180130	OMIM			
8726944	Rab28	RAB28, member RAS oncogene family	gene	DOID:0111024	cone-rod dystrophy 18		ISO	RGD:736462	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 18 | ClinVar Annotator: match by term: Cone-rod dystrophy 18	PMID:23746546|PMID:25356532|PMID:25741868|PMID:28492532
8726944	Rab28	RAB28, member RAS oncogene family	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736462	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:30718709
8726944	Rab28	RAB28, member RAS oncogene family	gene	DOID:1115	sarcoma		ISO	RGD:736462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726944	Rab28	RAB28, member RAS oncogene family	gene	DOID:1324	lung cancer		ISO	RGD:736462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8726944	Rab28	RAB28, member RAS oncogene family	gene	DOID:2513	basal cell carcinoma		ISO	RGD:736462	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8726944	Rab28	RAB28, member RAS oncogene family	gene	DOID:3070	high grade glioma		ISO	RGD:736462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8726944	Rab28	RAB28, member RAS oncogene family	gene	DOID:4448	macular degeneration		ISO	RGD:736462	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	PMID:23746546|PMID:25356532|PMID:25741868|PMID:28492532|PMID:35119454
8726944	Rab28	RAB28, member RAS oncogene family	gene	DOID:5723	optic atrophy		ISO	RGD:736462	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8726944	Rab28	RAB28, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726944	Rab28	RAB28, member RAS oncogene family	gene	DOID:8501	fundus dystrophy		ISO	RGD:736462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
8726944	Rab28	RAB28, member RAS oncogene family	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:0050865	tongue squamous cell carcinoma	disease_progression	ISO	RGD:1344695	D	RGD:9068941	20200609	RGD			PMID:21689966|REF_RGD_ID:8661665
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1344695	D	RGD:9068941	20250130	RGD		protein:increased expression:oral epithelium	PMID:30981761|REF_RGD_ID:597538586
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:0081292	traumatic brain injury	treatment	ISO	RGD:1565646	D	RGD:9068941	20250130	RGD			PMID:26296359|REF_RGD_ID:597538582
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:0111801	syndromic microphthalmia 3		ISO	RGD:1344695	D	RGD:7240710	20180130	OMIM			
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:10811	nasal cavity cancer		ISO	RGD:1344695	D	RGD:9068941	20200609	RGD		DNA:amplification	PMID:23544055|REF_RGD_ID:8661654
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29396848
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26343384
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:12528	lesion of sciatic nerve		ISO	RGD:1565646	D	RGD:9068941	20250130	RGD		mRNA,protein:increased expression:sciatic nerve	PMID:32029747|REF_RGD_ID:407985733
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:1565646	D	RGD:9068941	20231221	RGD		mRNA:decreased expression:hippocampus (rat)	PMID:30277635|REF_RGD_ID:401938665
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1344695	D	RGD:9068941	20200609	RGD			PMID:21822303|PMID:22832207|REF_RGD_ID:8661657|REF_RGD_ID:8661663
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:1612	breast cancer	treatment	ISO	RGD:1344695	D	RGD:9068941	20200609	RGD			PMID:22561374|REF_RGD_ID:8661656
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19801978
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1344695	D	RGD:9068941	20200609	RGD		protein:increased expression:mammalian vulva, epithelium	PMID:23518916|REF_RGD_ID:8661666
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:1909	melanoma	disease_progression	ISO	RGD:1344695	D	RGD:9068941	20200609	RGD			PMID:21410764|REF_RGD_ID:8661664
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1565646	D	RGD:9068941	20250130	RGD		protein:increased expression:hippocampus :	PMID:26607632|REF_RGD_ID:597538583
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:2377	multiple sclerosis		ISO	RGD:1344695	D	RGD:9068941	20250130	RGD			PMID:26290228|REF_RGD_ID:597538585
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:1344695	D	RGD:9068941	20200609	RGD			PMID:22899292|REF_RGD_ID:8661672
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:3347	osteosarcoma		ISO	RGD:1344695	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:34508303
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19801978
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25184679
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1344695	D	RGD:9068941	20220714	RGD		mRNA:altered expression:liver (human)	PMID:31687280|REF_RGD_ID:152998978
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:6000	congestive heart failure		ISO	RGD:1565646	D	RGD:9068941	20230202	RGD			PMID:34321385|REF_RGD_ID:155882552
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:8466	retinal degeneration		ISO	RGD:1565646	D	RGD:9068941	20250130	RGD		protein:increased expression:retina	PMID:31933849|REF_RGD_ID:597538544
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:8618	oral cavity cancer	ameliorates	ISO	RGD:1344695	D	RGD:9068941	20250130	RGD			PMID:30981761|REF_RGD_ID:597538586
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1558014	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:spinal cord	PMID:23169458|REF_RGD_ID:8661675
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1565646	D	RGD:9068941	20200609	RGD			PMID:23169458|REF_RGD_ID:8661675
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:1344695	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms	PMID:24382260|REF_RGD_ID:8661670
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:9002049	Anophthalmia		ISO	RGD:1344695	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:21532573
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:9002049	Anophthalmia		ISO	RGD:1344695	D	RGD:9068941	20250724	RGD		DNA:nonsense mutations: :multiple	PMID:12612584|REF_RGD_ID:1599088
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27415467
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:9004866	Ataxia		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29732603
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27415467
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19801978
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1565646	D	RGD:9068941	20200609	RGD			PMID:23828673|REF_RGD_ID:8661677
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1565646	D	RGD:9068941	20230202	RGD			PMID:34321385|REF_RGD_ID:155882552
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935819
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:9007702	Carcinogenesis	treatment	ISO	RGD:1565646	D	RGD:9068941	20250130	RGD		associated with diethylnitrosamine (DEN)-induced lung carcinogenesis	PMID:37259369|REF_RGD_ID:597538542
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:9007920	Thoracic Neoplasms		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26343384
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1344695	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.D123G (human)	PMID:19471311|REF_RGD_ID:8661661
8726959	Sox2	SRY-box transcription factor 2	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1344695	D	RGD:9068941	20200609	RGD		DNA:mutations: :multiple	PMID:19921648|REF_RGD_ID:8661660
8726965	Klk10	kallikrein related peptidase 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8726965	Klk10	kallikrein related peptidase 10	gene	DOID:0060074	ductal carcinoma in situ	disease_progression	ISO	RGD:1606032	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:breast	PMID:12788170|REF_RGD_ID:2314849
8726965	Klk10	kallikrein related peptidase 10	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:1606032	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:p.A50S (human)	PMID:11920956|REF_RGD_ID:2314851
8726965	Klk10	kallikrein related peptidase 10	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1606032	D	RGD:9068941	20200609	RGD			PMID:18766180|REF_RGD_ID:2314846
8726965	Klk10	kallikrein related peptidase 10	gene	DOID:363	uterine cancer		ISO	RGD:1606032	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:endometrium, serum	PMID:16647913|REF_RGD_ID:2314848
8726965	Klk10	kallikrein related peptidase 10	gene	DOID:4362	cervical cancer		ISO	RGD:1606032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8726965	Klk10	kallikrein related peptidase 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1606032	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8726965	Klk10	kallikrein related peptidase 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726965	Klk10	kallikrein related peptidase 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8726965	Klk10	kallikrein related peptidase 10	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1606032	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17182177
8726965	Klk10	kallikrein related peptidase 10	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1606032	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20686372
8726965	Klk10	kallikrein related peptidase 10	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1606032	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8726965	Klk10	kallikrein related peptidase 10	gene	DOID:9004207	Testicular Neoplasms		ISO	RGD:1606032	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:testis	PMID:11920956|REF_RGD_ID:2314851
8726965	Klk10	kallikrein related peptidase 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8726965	Klk10	kallikrein related peptidase 10	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1606032	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16800735
8726965	Klk10	kallikrein related peptidase 10	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1606032	D	RGD:9068941	20200609	RGD			PMID:17585892|REF_RGD_ID:2314847
8726965	Klk10	kallikrein related peptidase 10	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1606032	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:exon (human)	PMID:19150938|REF_RGD_ID:2314845
8726965	Klk10	kallikrein related peptidase 10	gene	DOID:9008939	Breast Neoplasms	severity	ISO	RGD:1606032	D	RGD:9068941	20200609	RGD			PMID:12087468|REF_RGD_ID:2314850
8726988	Ncoa4	nuclear receptor coactivator 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8726988	Ncoa4	nuclear receptor coactivator 4	gene	DOID:10283	prostate cancer		ISO	RGD:1348400	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:prostate gland	PMID:12368219|REF_RGD_ID:2293535
8726988	Ncoa4	nuclear receptor coactivator 4	gene	DOID:10283	prostate cancer	severity	ISO	RGD:1348400	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:15166229|REF_RGD_ID:2293534
8726988	Ncoa4	nuclear receptor coactivator 4	gene	DOID:10534	stomach cancer		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8726988	Ncoa4	nuclear receptor coactivator 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8726988	Ncoa4	nuclear receptor coactivator 4	gene	DOID:1115	sarcoma		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8726988	Ncoa4	nuclear receptor coactivator 4	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1348400	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:16580389|REF_RGD_ID:2293533
8726988	Ncoa4	nuclear receptor coactivator 4	gene	DOID:1324	lung cancer		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8726988	Ncoa4	nuclear receptor coactivator 4	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1348400	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast	PMID:11561770|REF_RGD_ID:2293536
8726988	Ncoa4	nuclear receptor coactivator 4	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1348400	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ovary	PMID:11161850|REF_RGD_ID:2293537
8726988	Ncoa4	nuclear receptor coactivator 4	gene	DOID:4362	cervical cancer		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8726988	Ncoa4	nuclear receptor coactivator 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1348400	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8726988	Ncoa4	nuclear receptor coactivator 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8726988	Ncoa4	nuclear receptor coactivator 4	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1348400	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23811263
8726988	Ncoa4	nuclear receptor coactivator 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8726988	Ncoa4	nuclear receptor coactivator 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8727017	Padi2	peptidyl arginine deiminase 2	gene	DOID:0080600	COVID-19		ISO	RGD:1348232	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8727017	Padi2	peptidyl arginine deiminase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8727017	Padi2	peptidyl arginine deiminase 2	gene	DOID:3275	thymoma		ISO	RGD:1348232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8727017	Padi2	peptidyl arginine deiminase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1348232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8727017	Padi2	peptidyl arginine deiminase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8727017	Padi2	peptidyl arginine deiminase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727017	Padi2	peptidyl arginine deiminase 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1348232	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rheumatoid Arthritis	
8727017	Padi2	peptidyl arginine deiminase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727037	Ccdc142	coiled-coil domain containing 142	gene	DOID:1909	melanoma		ISO	RGD:1606203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8727037	Ccdc142	coiled-coil domain containing 142	gene	DOID:543	dystonia		ISO	RGD:156438172	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498
8727037	Ccdc142	coiled-coil domain containing 142	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8727037	Ccdc142	coiled-coil domain containing 142	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727052	Mroh2b	maestro heat like repeat family member 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8727052	Mroh2b	maestro heat like repeat family member 2B	gene	DOID:1115	sarcoma		ISO	RGD:1604530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8727052	Mroh2b	maestro heat like repeat family member 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604530	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8727052	Mroh2b	maestro heat like repeat family member 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8727052	Mroh2b	maestro heat like repeat family member 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727100	Ubald2	UBA like domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8727100	Ubald2	UBA like domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1605547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8727100	Ubald2	UBA like domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1605547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8727100	Ubald2	UBA like domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605547	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8727100	Ubald2	UBA like domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727100	Ubald2	UBA like domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727140	Carm1	coactivator associated arginine methyltransferase 1	gene	DOID:0050868	hepatocellular adenoma		ISO	RGD:1305879	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver:	PMID:23912631|REF_RGD_ID:9586718
8727140	Carm1	coactivator associated arginine methyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8727140	Carm1	coactivator associated arginine methyltransferase 1	gene	DOID:0060075	estrogen-receptor positive breast cancer	disease_progression	ISO	RGD:1314176	D	RGD:9068941	20200609	RGD		protein:increased expression:breast:	PMID:23887673|REF_RGD_ID:9586721
8727140	Carm1	coactivator associated arginine methyltransferase 1	gene	DOID:0080016	spina bifida		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spina bifida	PMID:25741868
8727140	Carm1	coactivator associated arginine methyltransferase 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868
8727140	Carm1	coactivator associated arginine methyltransferase 1	gene	DOID:11836	clubfoot		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
8727140	Carm1	coactivator associated arginine methyltransferase 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
8727140	Carm1	coactivator associated arginine methyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8727140	Carm1	coactivator associated arginine methyltransferase 1	gene	DOID:2841	asthma		ISO	RGD:1305879	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung	PMID:20423833|REF_RGD_ID:9491823
8727140	Carm1	coactivator associated arginine methyltransferase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8727140	Carm1	coactivator associated arginine methyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8727140	Carm1	coactivator associated arginine methyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727140	Carm1	coactivator associated arginine methyltransferase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8727140	Carm1	coactivator associated arginine methyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1305879	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver:	PMID:23912631|REF_RGD_ID:9586718
8727140	Carm1	coactivator associated arginine methyltransferase 1	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:1314176	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:15221992|REF_RGD_ID:2293206
8727140	Carm1	coactivator associated arginine methyltransferase 1	gene	DOID:8893	psoriasis		ISO	RGD:1314176	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143594
8727140	Carm1	coactivator associated arginine methyltransferase 1	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868
8727140	Carm1	coactivator associated arginine methyltransferase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314176	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:15221992|REF_RGD_ID:2293206
8727140	Carm1	coactivator associated arginine methyltransferase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314176	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8727140	Carm1	coactivator associated arginine methyltransferase 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Talipes calcaneovalgus	PMID:25741868
8727140	Carm1	coactivator associated arginine methyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8727140	Carm1	coactivator associated arginine methyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:0040084	Streptococcus pneumonia	exacerbates	ISO	RGD:734463	D	RGD:9068941	20210604	RGD			PMID:33625952|REF_RGD_ID:127229925
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:0080160	cytomegalovirus retinitis		ISO	RGD:734463	D	RGD:9068941	20210604	RGD		protein:increased expression:optic cup, retina (mouse)	PMID:29853772|REF_RGD_ID:127229940
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:1342902	D	RGD:9068941	20210604	RGD		mRNA:increased expression:liver (human)	PMID:21425308|REF_RGD_ID:127229938
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1342902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:734463	D	RGD:9068941	20200609	RGD			PMID:22908283|REF_RGD_ID:7777166
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:10844	Japanese encephalitis	ameliorates	ISO	RGD:734463	D	RGD:9068941	20210604	RGD			PMID:32265853|REF_RGD_ID:127229907
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:1115	sarcoma		ISO	RGD:1342902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1342902	D	RGD:9068941	20210604	RGD		associated with avian influenza;mRNA, protein:increased expression, increased phosphorylation:lung (human)	PMID:31080811|REF_RGD_ID:127229928
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:11573	listeriosis	exacerbates	ISO	RGD:734463	D	RGD:9068941	20210604	RGD			PMID:30975711|REF_RGD_ID:127229912
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:1273	respiratory syncytial virus infectious disease	ameliorates	ISO	RGD:734463	D	RGD:9068941	20210604	RGD			PMID:33303545|REF_RGD_ID:127229923
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:1508	candidiasis	exacerbates	ISO	RGD:734463	D	RGD:9068941	20210604	RGD			PMID:30944411|REF_RGD_ID:127229913
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:182	calcinosis		ISO	RGD:1342902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:2723	dermatitis		ISO	RGD:734463	D	RGD:9068941	20200609	RGD			PMID:22000287|REF_RGD_ID:7777169
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:3298	vaccinia	exacerbates	ISO	RGD:734463	D	RGD:9068941	20210604	RGD			PMID:19524513|REF_RGD_ID:127229939
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:399	tuberculosis	exacerbates	ISO	RGD:734463	D	RGD:9068941	20210604	RGD			PMID:29892302|REF_RGD_ID:127229926
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:4079	heart valve disease		ISO	RGD:1342902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1342902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:4492	avian influenza	ameliorates	ISO	RGD:734463	D	RGD:9068941	20210604	RGD			PMID:28423682|REF_RGD_ID:127229942
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1342902	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:824	periodontitis	treatment	ISO	RGD:734463	D	RGD:9068941	20210604	RGD		associated with Gram-Negative Bacterial Infections	PMID:31758083|REF_RGD_ID:127229920
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:8466	retinal degeneration		ISO	RGD:734463	D	RGD:9068941	20200609	RGD			PMID:23954861|REF_RGD_ID:7777167
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:8566	herpes simplex	exacerbates	ISO	RGD:734463	D	RGD:9068941	20210604	RGD			PMID:25316792|PMID:30050136|REF_RGD_ID:127229943|REF_RGD_ID:40902865
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:874	bacterial pneumonia	ameliorates	ISO	RGD:734463	D	RGD:9068941	20210604	RGD			PMID:28387756|REF_RGD_ID:127229944
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:9000238	Acute-On-Chronic Liver Failure	exacerbates	ISO	RGD:1342902	D	RGD:9068941	20210604	RGD		associated with Chronic Hepatitis B;mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:30996211|REF_RGD_ID:127229914
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:9000371	influenza A	exacerbates	ISO	RGD:734463	D	RGD:9068941	20210604	RGD			PMID:27321907|PMID:32200799|REF_RGD_ID:127229911|REF_RGD_ID:127229922
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:9000371	influenza A	susceptibility	ISO	RGD:734463	D	RGD:9068941	20210604	RGD			PMID:28410401|REF_RGD_ID:127229918
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:1342902	D	RGD:9068941	20210604	RGD		protein:increased expression,'increased phosphorylation:gingiva (human)	PMID:30814594|REF_RGD_ID:127229937
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:9001049	Staphylococcal Pneumonia	treatment	ISO	RGD:734463	D	RGD:9068941	20210604	RGD			PMID:25445964|REF_RGD_ID:127229910
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:9001415	Mycobacterium Infections	ameliorates	ISO	RGD:734463	D	RGD:9068941	20210604	RGD			PMID:28401933|REF_RGD_ID:127229921
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:9002834	Herpesviridae Infections		ISO	RGD:734463	D	RGD:9068941	20210604	RGD			PMID:31985117|REF_RGD_ID:127229917
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:9004379	Vesicular Stomatitis	ameliorates	ISO	RGD:734463	D	RGD:9068941	20210604	RGD			PMID:25326752|REF_RGD_ID:127229916
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:9004484	Sepsis	ameliorates	ISO	RGD:1332101	D	RGD:9068941	20210604	RGD			PMID:32152555|REF_RGD_ID:127229919
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:9004484	Sepsis	ameliorates	ISO	RGD:734463	D	RGD:9068941	20210604	RGD			PMID:22195746|REF_RGD_ID:127229909
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:9004484	Sepsis	no_association	ISO	RGD:734463	D	RGD:9068941	20210604	RGD			PMID:23835476|REF_RGD_ID:127229908
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:9005966	Staphylococcal Skin Infections	ameliorates	ISO	RGD:734463	D	RGD:9068941	20210604	RGD			PMID:27524612|REF_RGD_ID:127229915
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:9006262	Cytomegalovirus Infections	severity	ISO	RGD:734463	D	RGD:9068941	20210604	RGD			PMID:29847649|REF_RGD_ID:127229927
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1342902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:26769846
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:734463	D	RGD:9068941	20210604	RGD		protein:increased expression:liver (mouse)	PMID:28205631|REF_RGD_ID:127229945
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8727158	Ripk3	receptor interacting serine/threonine kinase 3	gene	DOID:9452	steatotic liver disease		ISO	RGD:1342902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:26769846
8727192	Ppil3	peptidylprolyl isomerase like 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8727192	Ppil3	peptidylprolyl isomerase like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8727192	Ppil3	peptidylprolyl isomerase like 3	gene	DOID:0060058	lymphoma		ISO	RGD:1350391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8727192	Ppil3	peptidylprolyl isomerase like 3	gene	DOID:1115	sarcoma		ISO	RGD:1350391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8727192	Ppil3	peptidylprolyl isomerase like 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8727192	Ppil3	peptidylprolyl isomerase like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727192	Ppil3	peptidylprolyl isomerase like 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8727192	Ppil3	peptidylprolyl isomerase like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727192	Ppil3	peptidylprolyl isomerase like 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1350391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8727212	Pdxdc1	pyridoxal dependent decarboxylase domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8727212	Pdxdc1	pyridoxal dependent decarboxylase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8727212	Pdxdc1	pyridoxal dependent decarboxylase domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8727212	Pdxdc1	pyridoxal dependent decarboxylase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8727212	Pdxdc1	pyridoxal dependent decarboxylase domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8727212	Pdxdc1	pyridoxal dependent decarboxylase domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8727212	Pdxdc1	pyridoxal dependent decarboxylase domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8727212	Pdxdc1	pyridoxal dependent decarboxylase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8727212	Pdxdc1	pyridoxal dependent decarboxylase domain containing 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1604634	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25401301
8727212	Pdxdc1	pyridoxal dependent decarboxylase domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8727212	Pdxdc1	pyridoxal dependent decarboxylase domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604634	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8727212	Pdxdc1	pyridoxal dependent decarboxylase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727212	Pdxdc1	pyridoxal dependent decarboxylase domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8727212	Pdxdc1	pyridoxal dependent decarboxylase domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8727212	Pdxdc1	pyridoxal dependent decarboxylase domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8727212	Pdxdc1	pyridoxal dependent decarboxylase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727212	Pdxdc1	pyridoxal dependent decarboxylase domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8727212	Pdxdc1	pyridoxal dependent decarboxylase domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8727212	Pdxdc1	pyridoxal dependent decarboxylase domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8727236	Dok3	docking protein 3	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1323508	D	RGD:9068941	20220512	RGD		DNA:SNP:3'utr: (rs2279398) (human)	PMID:27354594|REF_RGD_ID:152177496
8727236	Dok3	docking protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1323508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8727236	Dok3	docking protein 3	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1323509	D	RGD:9068941	20220519	RGD			PMID:20139980|REF_RGD_ID:152177521
8727236	Dok3	docking protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1323508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8727236	Dok3	docking protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727236	Dok3	docking protein 3	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1323508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20139980
8727236	Dok3	docking protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727236	Dok3	docking protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8727236	Dok3	docking protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8727246	Thbs3	thrombospondin 3	gene	DOID:10283	prostate cancer		ISO	RGD:1314326	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8727246	Thbs3	thrombospondin 3	gene	DOID:630	genetic disease		ISO	RGD:1314326	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8727280	Loxl4	lysyl oxidase like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8727280	Loxl4	lysyl oxidase like 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318447	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8727280	Loxl4	lysyl oxidase like 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318447	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17456585
8727280	Loxl4	lysyl oxidase like 4	gene	DOID:1909	melanoma		ISO	RGD:1318447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8727280	Loxl4	lysyl oxidase like 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8727280	Loxl4	lysyl oxidase like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727280	Loxl4	lysyl oxidase like 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8727280	Loxl4	lysyl oxidase like 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727280	Loxl4	lysyl oxidase like 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8727280	Loxl4	lysyl oxidase like 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8727298	Cdc42	cell division cycle 42	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8727298	Cdc42	cell division cycle 42	gene	DOID:0050486	exanthem		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skin rash	PMID:25741868|PMID:28492532|PMID:29394990|PMID:31271789|PMID:31601675|PMID:32283203
8727298	Cdc42	cell division cycle 42	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8727298	Cdc42	cell division cycle 42	gene	DOID:0060775	microvillus inclusion disease		ISO	RGD:730977	D	RGD:9068941	20220825	MouseDO		OMIM:251850	
8727298	Cdc42	cell division cycle 42	gene	DOID:10534	stomach cancer		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8727298	Cdc42	cell division cycle 42	gene	DOID:1059	intellectual disability		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:29394990
8727298	Cdc42	cell division cycle 42	gene	DOID:10652	Alzheimer's disease		ISO	RGD:730976	D	RGD:9068941	20200609	RGD			PMID:10817927|REF_RGD_ID:5688277
8727298	Cdc42	cell division cycle 42	gene	DOID:11111	hydronephrosis		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
8727298	Cdc42	cell division cycle 42	gene	DOID:1115	sarcoma		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8727298	Cdc42	cell division cycle 42	gene	DOID:11836	clubfoot		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
8727298	Cdc42	cell division cycle 42	gene	DOID:1324	lung cancer		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8727298	Cdc42	cell division cycle 42	gene	DOID:1588	thrombocytopenia		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:28492532|PMID:29394990|PMID:31271789|PMID:31601675|PMID:32283203
8727298	Cdc42	cell division cycle 42	gene	DOID:1682	congenital heart disease		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	
8727298	Cdc42	cell division cycle 42	gene	DOID:1793	pancreatic cancer	severity	ISO	RGD:730976	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:pancreas (human)	PMID:28181096|REF_RGD_ID:13452244
8727298	Cdc42	cell division cycle 42	gene	DOID:1826	epilepsy		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:28492532|PMID:29394990
8727298	Cdc42	cell division cycle 42	gene	DOID:2355	anemia		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:28492532|PMID:29394990|PMID:31271789|PMID:31601675|PMID:32283203
8727298	Cdc42	cell division cycle 42	gene	DOID:305	carcinoma		ISO	RGD:730976	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8727298	Cdc42	cell division cycle 42	gene	DOID:3275	thymoma		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8727298	Cdc42	cell division cycle 42	gene	DOID:3312	bipolar disorder		ISO	RGD:730976	D	RGD:9068941	20200609	RGD			PMID:18391128|REF_RGD_ID:5688274
8727298	Cdc42	cell division cycle 42	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:71043	D	RGD:9068941	20200609	RGD			PMID:19700661|REF_RGD_ID:5688272
8727298	Cdc42	cell division cycle 42	gene	DOID:3355	fibrosarcoma		ISO	RGD:730976	D	RGD:9068941	20200609	RGD			PMID:17971488|REF_RGD_ID:5688275
8727298	Cdc42	cell division cycle 42	gene	DOID:4483	rhinitis		ISO	RGD:730976	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nasal turbinate	PMID:19432938|REF_RGD_ID:5688273
8727298	Cdc42	cell division cycle 42	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8727298	Cdc42	cell division cycle 42	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:730976	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8727298	Cdc42	cell division cycle 42	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8727298	Cdc42	cell division cycle 42	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727298	Cdc42	cell division cycle 42	gene	DOID:630	genetic disease		ISO	RGD:730976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26795593|PMID:27513193|PMID:29394990|PMID:33936654|PMID:39755496
8727298	Cdc42	cell division cycle 42	gene	DOID:674	cleft palate		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868|PMID:28991257|PMID:29394990
8727298	Cdc42	cell division cycle 42	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
8727298	Cdc42	cell division cycle 42	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:71043	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:15736231|REF_RGD_ID:5688276
8727298	Cdc42	cell division cycle 42	gene	DOID:9000362	Adrenal Gland Neoplasms		ISO	RGD:730976	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24747643
8727298	Cdc42	cell division cycle 42	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:730976	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8727298	Cdc42	cell division cycle 42	gene	DOID:9000972	Fever		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	PMID:25741868|PMID:28492532|PMID:29394990|PMID:31271789|PMID:31601675|PMID:32283203
8727298	Cdc42	cell division cycle 42	gene	DOID:9001276	Failure to Thrive		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532|PMID:29394990|PMID:31271789|PMID:31601675|PMID:32283203
8727298	Cdc42	cell division cycle 42	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:730977	D	RGD:9068941	20200609	RGD		protein:increased activation:bone marrow, macrophage	PMID:21266780|REF_RGD_ID:5688271
8727298	Cdc42	cell division cycle 42	gene	DOID:9002720	Splenomegaly		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868
8727298	Cdc42	cell division cycle 42	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intracranial hemorrhage	PMID:25741868|PMID:28492532|PMID:29394990|PMID:31271789|PMID:31601675|PMID:32283203
8727298	Cdc42	cell division cycle 42	gene	DOID:9003145	Nuchal Bleb, Familial		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal cystic hygroma	PMID:25741868
8727298	Cdc42	cell division cycle 42	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:71043	D	RGD:9068941	20200609	RGD		protein:increased activation:hippocampus CA1	PMID:17161586|REF_RGD_ID:2298583
8727298	Cdc42	cell division cycle 42	gene	DOID:9004404	Familial Hemophagocytic Lymphohistiocytoses		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis	PMID:25741868|PMID:28492532|PMID:29394990|PMID:31271789|PMID:31601675|PMID:32283203
8727298	Cdc42	cell division cycle 42	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:730976	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:26386261|PMID:26708094|PMID:26795593|PMID:27513193|PMID:28492532|PMID:29335451|PMID:29394990|PMID:33936654|PMID:39755496
8727298	Cdc42	cell division cycle 42	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:730976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:26795593|PMID:27513193|PMID:28492532|PMID:29394990|PMID:33936654|PMID:39755496
8727298	Cdc42	cell division cycle 42	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:730976	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8727298	Cdc42	cell division cycle 42	gene	DOID:9005749	Necrosis		ISO	RGD:730976	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19430526
8727298	Cdc42	cell division cycle 42	gene	DOID:9006962	Takenouchi-Kosaki Syndrome		ISO	RGD:730976	D	RGD:7240710	20180130	OMIM			
8727298	Cdc42	cell division cycle 42	gene	DOID:9006962	Takenouchi-Kosaki Syndrome		ISO	RGD:730976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CDC42-related condition | ClinVar Annotator: match by term: TAKENOUCHI-KOSAKI SYNDROME | ClinVar Annotator: match by term: Takenouchi-Kosaki syndrome	PMID:25741868|PMID:26386261|PMID:26708094|PMID:26795593|PMID:27513193|PMID:28492532|PMID:29335451|PMID:29394990|PMID:31130284|PMID:33057194|PMID:33672558|PMID:33936654|PMID:35982159|PMID:39755496
8727298	Cdc42	cell division cycle 42	gene	DOID:9008189	Pyelectasis		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:25741868
8727298	Cdc42	cell division cycle 42	gene	DOID:9008421	Epistaxis		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868|PMID:28492532|PMID:29394990|PMID:31271789|PMID:31601675|PMID:32283203
8727298	Cdc42	cell division cycle 42	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:25741868
8727298	Cdc42	cell division cycle 42	gene	DOID:9008617	Lethargy		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:25741868
8727298	Cdc42	cell division cycle 42	gene	DOID:9650	pathologic nystagmus		ISO	RGD:730976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532|PMID:29394990|PMID:31271789|PMID:31601675|PMID:32283203
8727318	Ppy	pancreatic polypeptide	gene	DOID:4362	cervical cancer		ISO	RGD:737129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8727328	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8727328	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:0080600	COVID-19		ISO	RGD:1348241	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8727328	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1348241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8727328	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1348241	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8727328	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8727328	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1348241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8727328	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:3275	thymoma		ISO	RGD:1348241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8727328	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1348241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8727328	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8727328	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727328	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8727328	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348241	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8727339	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8727339	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:0112117	combined oxidative phosphorylation deficiency 40		ISO	RGD:1343877	D	RGD:7240710	20200429	OMIM			
8727339	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:0112117	combined oxidative phosphorylation deficiency 40		ISO	RGD:1343877	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 40 | ClinVar Annotator: match by term: QRSL1-related disorder | ClinVar Annotator: match by term: combined oxidative phosphorylation deficiency 40	PMID:17576681|PMID:25741868|PMID:26741492|PMID:28492532|PMID:29440775|PMID:30283131|PMID:9536098
8727339	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:1324	lung cancer		ISO	RGD:1343877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8727339	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8727339	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:4362	cervical cancer		ISO	RGD:1343877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8727339	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:5041	esophageal cancer		ISO	RGD:1343877	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8727339	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727339	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:630	genetic disease		ISO	RGD:1343877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8727339	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8727339	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727339	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8727359	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8727359	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8727359	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1343059	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	
8727359	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:1115	sarcoma		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8727359	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:1324	lung cancer		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8727359	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:1909	melanoma		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8727359	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8727359	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8727359	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:3275	thymoma		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8727359	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:4362	cervical cancer		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8727359	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1343059	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8727359	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8727359	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727359	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:670	amphetamine abuse		ISO	RGD:1343059	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
8727359	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8727359	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727359	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8727393	Caps2	calcyphosine 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8727393	Caps2	calcyphosine 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8727393	Caps2	calcyphosine 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8727393	Caps2	calcyphosine 2	gene	DOID:1115	sarcoma		ISO	RGD:1320373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8727393	Caps2	calcyphosine 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320373	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8727393	Caps2	calcyphosine 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727393	Caps2	calcyphosine 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727393	Caps2	calcyphosine 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8727393	Caps2	calcyphosine 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8727424	Tatdn1	TatD DNase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8727424	Tatdn1	TatD DNase domain containing 1	gene	DOID:0060058	lymphoma		ISO	RGD:1313148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8727424	Tatdn1	TatD DNase domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8727424	Tatdn1	TatD DNase domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1313148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8727424	Tatdn1	TatD DNase domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8727424	Tatdn1	TatD DNase domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8727424	Tatdn1	TatD DNase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727424	Tatdn1	TatD DNase domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8727424	Tatdn1	TatD DNase domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8727424	Tatdn1	TatD DNase domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8727424	Tatdn1	TatD DNase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727444	Ammecr1	AMMECR nuclear protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8727444	Ammecr1	AMMECR nuclear protein 1	gene	DOID:0111859	midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		ISO	RGD:1347096	D	RGD:7240710	20190315	OMIM			
8727444	Ammecr1	AMMECR nuclear protein 1	gene	DOID:0111859	midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		ISO	RGD:1347096	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	PMID:25741868|PMID:27811305|PMID:28089922|PMID:28492532|PMID:29193635|PMID:34006472|PMID:35084080
8727444	Ammecr1	AMMECR nuclear protein 1	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1347096	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:25741868
8727444	Ammecr1	AMMECR nuclear protein 1	gene	DOID:1909	melanoma		ISO	RGD:1347096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8727444	Ammecr1	AMMECR nuclear protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727444	Ammecr1	AMMECR nuclear protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727444	Ammecr1	AMMECR nuclear protein 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1347096	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
8727457	Ripk2	receptor interacting serine/threonine kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8727457	Ripk2	receptor interacting serine/threonine kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8727457	Ripk2	receptor interacting serine/threonine kinase 2	gene	DOID:1024	leprosy		ISO	RGD:1319357	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Leprosy, susceptibility to, 1	
8727457	Ripk2	receptor interacting serine/threonine kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8727457	Ripk2	receptor interacting serine/threonine kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8727457	Ripk2	receptor interacting serine/threonine kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8727457	Ripk2	receptor interacting serine/threonine kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8727457	Ripk2	receptor interacting serine/threonine kinase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8727457	Ripk2	receptor interacting serine/threonine kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727457	Ripk2	receptor interacting serine/threonine kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8727457	Ripk2	receptor interacting serine/threonine kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8727457	Ripk2	receptor interacting serine/threonine kinase 2	gene	DOID:8577	ulcerative colitis		ISO	RGD:1319357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20452301
8727457	Ripk2	receptor interacting serine/threonine kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727457	Ripk2	receptor interacting serine/threonine kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8727457	Ripk2	receptor interacting serine/threonine kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8727457	Ripk2	receptor interacting serine/threonine kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8727485	Tspyl2	TSPY like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8727485	Tspyl2	TSPY like 2	gene	DOID:1324	lung cancer		ISO	RGD:1346364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8727485	Tspyl2	TSPY like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727485	Tspyl2	TSPY like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8727485	Tspyl2	TSPY like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727485	Tspyl2	TSPY like 2	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1346364	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23104009
8727485	Tspyl2	TSPY like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8727485	Tspyl2	TSPY like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8727505	Pink1	PTEN induced kinase 1	gene	DOID:0060369	Parkinson's disease 6		ISO	RGD:1314001	D	RGD:7240710	20180130	OMIM			
8727505	Pink1	PTEN induced kinase 1	gene	DOID:0060369	Parkinson's disease 6		ISO	RGD:1314001	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 | ClinVar Annotator: match by term: PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET | ClinVar Annotator: match by term: Parkinson disease 6, autosomal recessive early-onset	PMID:15087508|PMID:15349860|PMID:15349870|PMID:15584030|PMID:16009891|PMID:16199547|PMID:17576681|PMID:18286320|PMID:18330912|PMID:18685134|PMID:20798600|PMID:21488273|PMID:21925922|PMID:22644621|PMID:23063710|PMID:23303188|PMID:23459931|PMID:23880019|PMID:24677602|PMID:25741868|PMID:26467025|PMID:27926857|PMID:28492532|PMID:28849312|PMID:31324919|PMID:32713623|PMID:33845304|PMID:35042401|PMID:37750340|PMID:9536098
8727505	Pink1	PTEN induced kinase 1	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:1314001	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Parkinson disease, late-onset	
8727505	Pink1	PTEN induced kinase 1	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:1305769	D	RGD:9068941	20240912	RGD			PMID:34052187|REF_RGD_ID:407532640
8727505	Pink1	PTEN induced kinase 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:1314001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonism	PMID:24033266
8727505	Pink1	PTEN induced kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8727505	Pink1	PTEN induced kinase 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:1305769	D	RGD:9068941	20250724	RGD			PMID:24157858|PMID:25421206|REF_RGD_ID:11560775|REF_RGD_ID:12880446
8727505	Pink1	PTEN induced kinase 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:1314001	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:17010972|PMID:21366594|PMID:22043175|PMID:24374061|PMID:25149416|PMID:30734931
8727505	Pink1	PTEN induced kinase 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:1314001	D	RGD:9068941	20250724	RGD			PMID:25639775|PMID:26223426|REF_RGD_ID:10450518|REF_RGD_ID:10450521
8727505	Pink1	PTEN induced kinase 1	gene	DOID:1561	cognitive disorder		ISO	RGD:1314001	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:36804394
8727505	Pink1	PTEN induced kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8727505	Pink1	PTEN induced kinase 1	gene	DOID:630	genetic disease		ISO	RGD:1314001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8727505	Pink1	PTEN induced kinase 1	gene	DOID:769	neuroblastoma		ISO	RGD:1314001	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:23334666
8727505	Pink1	PTEN induced kinase 1	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1314001	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24161480
8727505	Pink1	PTEN induced kinase 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1314001	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35312153
8727518	Tlcd5	TLC domain containing 5	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1603164	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28553957
8727518	Tlcd5	TLC domain containing 5	gene	DOID:1909	melanoma		ISO	RGD:1603164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8727530	Laptm4a	lysosomal protein transmembrane 4 alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1346215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8727530	Laptm4a	lysosomal protein transmembrane 4 alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8727530	Laptm4a	lysosomal protein transmembrane 4 alpha	gene	DOID:1909	melanoma		ISO	RGD:1346215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8727530	Laptm4a	lysosomal protein transmembrane 4 alpha	gene	DOID:2394	ovarian cancer		ISO	RGD:1346215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8727530	Laptm4a	lysosomal protein transmembrane 4 alpha	gene	DOID:3070	high grade glioma		ISO	RGD:1346215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8727530	Laptm4a	lysosomal protein transmembrane 4 alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727530	Laptm4a	lysosomal protein transmembrane 4 alpha	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8727530	Laptm4a	lysosomal protein transmembrane 4 alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727530	Laptm4a	lysosomal protein transmembrane 4 alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8727530	Laptm4a	lysosomal protein transmembrane 4 alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8727541	Vsig2	V-set and immunoglobulin domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8727541	Vsig2	V-set and immunoglobulin domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1344618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8727541	Vsig2	V-set and immunoglobulin domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1344618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8727541	Vsig2	V-set and immunoglobulin domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1344618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8727541	Vsig2	V-set and immunoglobulin domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1344618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8727541	Vsig2	V-set and immunoglobulin domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1344618	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8727541	Vsig2	V-set and immunoglobulin domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727541	Vsig2	V-set and immunoglobulin domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8727541	Vsig2	V-set and immunoglobulin domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8727541	Vsig2	V-set and immunoglobulin domain containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1344618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319911	D	RGD:9068941	20221117	RGD		DNA:deletions:multiple: (human)	PMID:28464518|REF_RGD_ID:155663379
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319911	D	RGD:9068941	20221117	RGD		DNA:nonsense mutation:exon:c.1039 C>T, p.R347X (human)	PMID:29700987|REF_RGD_ID:155663377
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:0060260	ptosis		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:11502	mitral valve insufficiency		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral regurgitation	PMID:25741868
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319911	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant	PMID:25741868|PMID:28386937|PMID:28492532|PMID:31250519|PMID:34906501
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:1682	congenital heart disease		ISO	RGD:1319911	D	RGD:9068941	20221111	RGD		DNA:mutations:cds:multiple (human)	PMID:36229919|REF_RGD_ID:155663359
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:2152	ovary epithelial cancer	susceptibility	ISO	RGD:1319911	D	RGD:9068941	20221117	RGD		DNA:SNP:CDS:rs237028 (human)	PMID:31485280|REF_RGD_ID:155663376
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1319912	D	RGD:9068941	20221117	RGD		mRNA, protein:increased expression:lung (mouse)	PMID:34331613|REF_RGD_ID:155663371
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:1319912	D	RGD:9068941	20221117	RGD			PMID:32506869|REF_RGD_ID:155663374
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1319911	D	RGD:9068941	20221117	RGD		mRNA:increased expression:lung (human)	PMID:34551195|REF_RGD_ID:155663369
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:4080	tricuspid valve insufficiency		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tricuspid regurgitation	PMID:25741868
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:540	strabismus		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:5644	tricuspid valve prolapse		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tricuspid valve prolapse	PMID:25741868
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1319911	D	RGD:9068941	20221117	RGD		mRNA, protein:increased expression:synovial (human)	PMID:22660635|REF_RGD_ID:155663483
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:25741868
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25741868
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9004266	Patellar Dislocation		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Patellar dislocation	PMID:25741868
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9004994	Embryo Loss		ISO	RGD:1319912	D	RGD:9068941	20221117	RGD			PMID:22972987|REF_RGD_ID:155663421
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9007033	Ventricular Premature Complexes		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ventricular contraction	PMID:25741868
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9007753	Congenital Heart Defects, Multiple Types, 2		ISO	RGD:1319911	D	RGD:7240710	20180130	OMIM			
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9007753	Congenital Heart Defects, Multiple Types, 2		ISO	RGD:1319911	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: CONGENITAL HEART DISEASE, MULTIPLE TYPES, 2 | ClinVar Annotator: match by term: Congenital heart defects, multiple types, 2 | ClinVar Annotator: match by term: Congenital heart defects, nonsyndromic, 2 | ClinVar Annotator: match by term: TAB2-related condition | ClinVar Annotator: match by term: TAB2-related disorder | ClinVar Annotator: match by term: congenital heart defects, multiple types, 2	PMID:20493459|PMID:25741868|PMID:28386937|PMID:28492532|PMID:29700987|PMID:31250519|PMID:33131162|PMID:34741306|PMID:34906501|PMID:34995729|PMID:35971781|PMID:36229919
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9008565	Congenital Heart Defects, Multiple Types		ISO	RGD:1319911	D	RGD:9068941	20221117	RGD		DNA:mutation, translocation:cds:c.622C>T p.Pro208Ser|c.688C>A p.Gln230Lys, t(2;6)(q21;q25)	PMID:20493459|REF_RGD_ID:155663487
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1319911	D	RGD:9068941	20221117	RGD		mRNA, protein:increased expression:kidney (human)	PMID:22660635|REF_RGD_ID:155663483
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:988	mitral valve prolapse		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	PMID:25741868
8727567	Tab2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9993	hypoglycemia		ISO	RGD:1319911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868|PMID:36229919
8727583	Pygl	glycogen phosphorylase L	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8727583	Pygl	glycogen phosphorylase L	gene	DOID:10534	stomach cancer		ISO	RGD:731803	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8727583	Pygl	glycogen phosphorylase L	gene	DOID:2747	glycogen storage disease		ISO	RGD:731803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glycogen storage disease	PMID:21646031|PMID:25266922|PMID:25741868|PMID:28492532|PMID:32961316|PMID:9536091
8727583	Pygl	glycogen phosphorylase L	gene	DOID:2754	glycogen storage disease VI		ISO	RGD:731803	D	RGD:7240710	20180130	OMIM			
8727583	Pygl	glycogen phosphorylase L	gene	DOID:2754	glycogen storage disease VI		ISO	RGD:731803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE VI | ClinVar Annotator: match by term: Glycogen storage disease 6 | ClinVar Annotator: match by term: Glycogen storage disease, type VI | ClinVar Annotator: match by term: Hepatic glycogen phosphorylase deficiency | ClinVar Annotator: match by term: PYGL-related disorder | ClinVar Annotator: match by term: Phosphorylase deficiency glycogen-storage disease of liver	PMID:12809646|PMID:16199547|PMID:17576681|PMID:17705025|PMID:20301760|PMID:21646031|PMID:22899091|PMID:24033266|PMID:25070466|PMID:25266922|PMID:25640679|PMID:25741868|PMID:26526422|PMID:26986878|PMID:28492532|PMID:31508908|PMID:31768638|PMID:32268899|PMID:32374048|PMID:32505569|PMID:32772503|PMID:32892177|PMID:32961316|PMID:33763395|PMID:33782433|PMID:35143115|PMID:35257483|PMID:35834487|PMID:35854365|PMID:36105079|PMID:9529348|PMID:9536091|PMID:9536098
8727583	Pygl	glycogen phosphorylase L	gene	DOID:3650	lactic acidosis		ISO	RGD:620687	D	RGD:9068941	20200609	RGD		DNA:mutation:multiple	PMID:17705025|REF_RGD_ID:11071447
8727583	Pygl	glycogen phosphorylase L	gene	DOID:3650	lactic acidosis		ISO	RGD:731803	D	RGD:9068941	20200609	RGD		DNA:mutation:multiple	PMID:17705025|REF_RGD_ID:11071447
8727583	Pygl	glycogen phosphorylase L	gene	DOID:3650	lactic acidosis		ISO	RGD:731804	D	RGD:9068941	20200609	RGD		DNA:mutation:multiple	PMID:17705025|REF_RGD_ID:11071447
8727583	Pygl	glycogen phosphorylase L	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731803	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727583	Pygl	glycogen phosphorylase L	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8727583	Pygl	glycogen phosphorylase L	gene	DOID:630	genetic disease		ISO	RGD:731803	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8727583	Pygl	glycogen phosphorylase L	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731803	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2885971
8727583	Pygl	glycogen phosphorylase L	gene	DOID:9005369	Hepatomegaly		ISO	RGD:731803	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868
8727583	Pygl	glycogen phosphorylase L	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727583	Pygl	glycogen phosphorylase L	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:620687	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (rat)	PMID:25336395|REF_RGD_ID:21079733
8727583	Pygl	glycogen phosphorylase L	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:731803	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8727583	Pygl	glycogen phosphorylase L	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:731803	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (rat)	PMID:25336395|REF_RGD_ID:21079733
8727583	Pygl	glycogen phosphorylase L	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:731804	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (rat)	PMID:25336395|REF_RGD_ID:21079733
8727583	Pygl	glycogen phosphorylase L	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8727583	Pygl	glycogen phosphorylase L	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8727612	Pcdhb1	protocadherin beta 1	gene	DOID:10283	prostate cancer		ISO	RGD:1318719	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8727647	Ogdh	oxoglutarate dehydrogenase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
8727647	Ogdh	oxoglutarate dehydrogenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8727647	Ogdh	oxoglutarate dehydrogenase	gene	DOID:0081326	oxoglutarate dehydrogenase deficiency		ISO	RGD:1353072	D	RGD:7240710	20180130	OMIM			
8727647	Ogdh	oxoglutarate dehydrogenase	gene	DOID:0081326	oxoglutarate dehydrogenase deficiency		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: OGDH-related disorder | ClinVar Annotator: match by term: OXOGLUTARATE DEHYDROGENASE DEFICIENCY | ClinVar Annotator: match by term: Oxoglutaricaciduria	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32383294|PMID:36520152|PMID:40794449|PMID:9536098
8727647	Ogdh	oxoglutarate dehydrogenase	gene	DOID:10534	stomach cancer		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8727647	Ogdh	oxoglutarate dehydrogenase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
8727647	Ogdh	oxoglutarate dehydrogenase	gene	DOID:1115	sarcoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
8727647	Ogdh	oxoglutarate dehydrogenase	gene	DOID:1324	lung cancer		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8727647	Ogdh	oxoglutarate dehydrogenase	gene	DOID:1909	melanoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8727647	Ogdh	oxoglutarate dehydrogenase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
8727647	Ogdh	oxoglutarate dehydrogenase	gene	DOID:3275	thymoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
8727647	Ogdh	oxoglutarate dehydrogenase	gene	DOID:4362	cervical cancer		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8727647	Ogdh	oxoglutarate dehydrogenase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
8727647	Ogdh	oxoglutarate dehydrogenase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8727647	Ogdh	oxoglutarate dehydrogenase	gene	DOID:5041	esophageal cancer		ISO	RGD:1353072	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
8727647	Ogdh	oxoglutarate dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8727647	Ogdh	oxoglutarate dehydrogenase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8727647	Ogdh	oxoglutarate dehydrogenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
8727647	Ogdh	oxoglutarate dehydrogenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8727647	Ogdh	oxoglutarate dehydrogenase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1353072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8727647	Ogdh	oxoglutarate dehydrogenase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8727647	Ogdh	oxoglutarate dehydrogenase	gene	DOID:9256	colorectal cancer		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
8727690	Gask1a	golgi associated kinase 1A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8727690	Gask1a	golgi associated kinase 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8727690	Gask1a	golgi associated kinase 1A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8727690	Gask1a	golgi associated kinase 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727690	Gask1a	golgi associated kinase 1A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8727690	Gask1a	golgi associated kinase 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8727690	Gask1a	golgi associated kinase 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8727717	Aldh1l1	aldehyde dehydrogenase 1 family member L1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8727717	Aldh1l1	aldehyde dehydrogenase 1 family member L1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606025	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8727717	Aldh1l1	aldehyde dehydrogenase 1 family member L1	gene	DOID:1115	sarcoma		ISO	RGD:1606025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8727717	Aldh1l1	aldehyde dehydrogenase 1 family member L1	gene	DOID:1324	lung cancer		ISO	RGD:1606025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8727717	Aldh1l1	aldehyde dehydrogenase 1 family member L1	gene	DOID:13580	cholestasis	treatment	ISO	RGD:621294	D	RGD:9068941	20200609	RGD			PMID:30223280|REF_RGD_ID:15045612
8727717	Aldh1l1	aldehyde dehydrogenase 1 family member L1	gene	DOID:1909	melanoma		ISO	RGD:1606025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8727717	Aldh1l1	aldehyde dehydrogenase 1 family member L1	gene	DOID:3070	high grade glioma		ISO	RGD:1606025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8727717	Aldh1l1	aldehyde dehydrogenase 1 family member L1	gene	DOID:3275	thymoma		ISO	RGD:1606025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8727717	Aldh1l1	aldehyde dehydrogenase 1 family member L1	gene	DOID:4362	cervical cancer		ISO	RGD:1606025	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8727717	Aldh1l1	aldehyde dehydrogenase 1 family member L1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606025	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8727717	Aldh1l1	aldehyde dehydrogenase 1 family member L1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606025	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8727717	Aldh1l1	aldehyde dehydrogenase 1 family member L1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8727717	Aldh1l1	aldehyde dehydrogenase 1 family member L1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727717	Aldh1l1	aldehyde dehydrogenase 1 family member L1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8727717	Aldh1l1	aldehyde dehydrogenase 1 family member L1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606025	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15650968
8727717	Aldh1l1	aldehyde dehydrogenase 1 family member L1	gene	DOID:9002189	High Myopia		ISO	RGD:1606025	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
8727717	Aldh1l1	aldehyde dehydrogenase 1 family member L1	gene	DOID:9002669	Hypoxia		ISO	RGD:1606025	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19579223
8727717	Aldh1l1	aldehyde dehydrogenase 1 family member L1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8727717	Aldh1l1	aldehyde dehydrogenase 1 family member L1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8727717	Aldh1l1	aldehyde dehydrogenase 1 family member L1	gene	DOID:9256	colorectal cancer		ISO	RGD:1606025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	
8727717	Aldh1l1	aldehyde dehydrogenase 1 family member L1	gene	DOID:9970	obesity		ISO	RGD:1606025	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
8727745	Orc1	origin recognition complex subunit 1	gene	DOID:0060260	ptosis		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28492532
8727745	Orc1	origin recognition complex subunit 1	gene	DOID:0060306	Meier-Gorlin syndrome		ISO	RGD:1350406	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Meier-Gorlin syndrome	PMID:21358631|PMID:21358632|PMID:21358633|PMID:22333897|PMID:22855792|PMID:23023959|PMID:23516378|PMID:24033266|PMID:25689043|PMID:25741868|PMID:28492532|PMID:3023959
8727745	Orc1	origin recognition complex subunit 1	gene	DOID:0080512	Meier-Gorlin syndrome 1		ISO	RGD:1350406	D	RGD:7240710	20190424	OMIM			
8727745	Orc1	origin recognition complex subunit 1	gene	DOID:0080512	Meier-Gorlin syndrome 1		ISO	RGD:1350406	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MEIER-GORLIN SYNDROME 1 | ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 | ClinVar Annotator: match by term: ORC1-related condition	PMID:21358631|PMID:21358632|PMID:21358633|PMID:22333897|PMID:22855792|PMID:23023959|PMID:23516378|PMID:24033266|PMID:25689043|PMID:25741868|PMID:28112645|PMID:28492532|PMID:3023959|PMID:31274184|PMID:33482836|PMID:35568357
8727745	Orc1	origin recognition complex subunit 1	gene	DOID:0080600	COVID-19		ISO	RGD:1350406	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8727745	Orc1	origin recognition complex subunit 1	gene	DOID:10907	microcephaly		ISO	RGD:1350406	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21358633
8727745	Orc1	origin recognition complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8727745	Orc1	origin recognition complex subunit 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:21358631|PMID:25741868|PMID:28492532|PMID:33482836
8727745	Orc1	origin recognition complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8727745	Orc1	origin recognition complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8727745	Orc1	origin recognition complex subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8727745	Orc1	origin recognition complex subunit 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8727745	Orc1	origin recognition complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727745	Orc1	origin recognition complex subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1350406	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:21358631|PMID:21358632|PMID:21358633|PMID:22333897|PMID:22855792|PMID:23023959|PMID:23516378|PMID:24033266|PMID:25689043|PMID:25741868|PMID:28492532|PMID:3023959
8727745	Orc1	origin recognition complex subunit 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8727745	Orc1	origin recognition complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8727745	Orc1	origin recognition complex subunit 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1350406	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21358633
8727745	Orc1	origin recognition complex subunit 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
8727745	Orc1	origin recognition complex subunit 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
8727745	Orc1	origin recognition complex subunit 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:21358631|PMID:25741868|PMID:28492532|PMID:33482836
8727745	Orc1	origin recognition complex subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8727745	Orc1	origin recognition complex subunit 1	gene	DOID:9834	hyperopia		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
8727781	Naa20	N-alpha-acetyltransferase 20, NatB catalytic subunit	gene	DOID:0081233	autosomal recessive intellectual developmental disorder 73		ISO	RGD:1317063	D	RGD:7240710	20220323	OMIM			
8727781	Naa20	N-alpha-acetyltransferase 20, NatB catalytic subunit	gene	DOID:0081233	autosomal recessive intellectual developmental disorder 73		ISO	RGD:1317063	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 73	PMID:25741868
8727781	Naa20	N-alpha-acetyltransferase 20, NatB catalytic subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1317063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8727781	Naa20	N-alpha-acetyltransferase 20, NatB catalytic subunit	gene	DOID:3275	thymoma		ISO	RGD:1317063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8727781	Naa20	N-alpha-acetyltransferase 20, NatB catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727781	Naa20	N-alpha-acetyltransferase 20, NatB catalytic subunit	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8727811	Efs	embryonal Fyn-associated substrate	gene	DOID:10534	stomach cancer		ISO	RGD:1319047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8727811	Efs	embryonal Fyn-associated substrate	gene	DOID:1115	sarcoma		ISO	RGD:1319047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8727811	Efs	embryonal Fyn-associated substrate	gene	DOID:1324	lung cancer		ISO	RGD:1319047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8727811	Efs	embryonal Fyn-associated substrate	gene	DOID:1909	melanoma		ISO	RGD:1319047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8727811	Efs	embryonal Fyn-associated substrate	gene	DOID:5041	esophageal cancer		ISO	RGD:1319047	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8727811	Efs	embryonal Fyn-associated substrate	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727811	Efs	embryonal Fyn-associated substrate	gene	DOID:8778	Crohn's disease		ISO	RGD:1319048	D	RGD:9068941	20220825	MouseDO			
8727811	Efs	embryonal Fyn-associated substrate	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727842	Noct	nocturnin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8727842	Noct	nocturnin	gene	DOID:5041	esophageal cancer		ISO	RGD:1349348	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8727842	Noct	nocturnin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8727842	Noct	nocturnin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1349348	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8727842	Noct	nocturnin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8727854	Cdh17	cadherin 17	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8727854	Cdh17	cadherin 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8727854	Cdh17	cadherin 17	gene	DOID:0080820	occupational asthma		ISO	RGD:733806	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25918132
8727854	Cdh17	cadherin 17	gene	DOID:10534	stomach cancer		ISO	RGD:733806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8727854	Cdh17	cadherin 17	gene	DOID:1909	melanoma		ISO	RGD:733806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8727854	Cdh17	cadherin 17	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8727854	Cdh17	cadherin 17	gene	DOID:2394	ovarian cancer		ISO	RGD:733806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8727854	Cdh17	cadherin 17	gene	DOID:3275	thymoma		ISO	RGD:733806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8727854	Cdh17	cadherin 17	gene	DOID:5041	esophageal cancer		ISO	RGD:733806	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8727854	Cdh17	cadherin 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727854	Cdh17	cadherin 17	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8727854	Cdh17	cadherin 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727854	Cdh17	cadherin 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8727854	Cdh17	cadherin 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8727882	Zbtb8b	zinc finger and BTB domain containing 8B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2307066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727921	Dhrs3	dehydrogenase/reductase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8727921	Dhrs3	dehydrogenase/reductase 3	gene	DOID:0070691	craniosynostosis-scoliosis syndrome		ISO	RGD:1313699	D	RGD:7240710	20260311	OMIM			
8727921	Dhrs3	dehydrogenase/reductase 3	gene	DOID:0070691	craniosynostosis-scoliosis syndrome		ISO	RGD:1313699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CRANIOSYNOSTOSIS-SCOLIOSIS SYNDROME | ClinVar Annotator: match by term: Craniosynostosis-scoliosis syndrome	
8727921	Dhrs3	dehydrogenase/reductase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8727921	Dhrs3	dehydrogenase/reductase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8727921	Dhrs3	dehydrogenase/reductase 3	gene	DOID:1909	melanoma		ISO	RGD:1313699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8727921	Dhrs3	dehydrogenase/reductase 3	gene	DOID:2340	craniosynostosis		ISO	RGD:1313699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:25741868
8727921	Dhrs3	dehydrogenase/reductase 3	gene	DOID:3275	thymoma		ISO	RGD:1313699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8727921	Dhrs3	dehydrogenase/reductase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8727921	Dhrs3	dehydrogenase/reductase 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313699	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8727936	Prmt8	protein arginine methyltransferase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8727936	Prmt8	protein arginine methyltransferase 8	gene	DOID:1115	sarcoma		ISO	RGD:1605979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8727936	Prmt8	protein arginine methyltransferase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727936	Prmt8	protein arginine methyltransferase 8	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1558440	D	RGD:9068941	20250327	RGD		mRNA:decreased expression:nucleus accumbens (mouse)	PMID:27506785|REF_RGD_ID:11561325
8727936	Prmt8	protein arginine methyltransferase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727950	Lrrn2	leucine rich repeat neuronal 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8727959	Rps27	ribosomal protein S27	gene	DOID:0111880	Diamond-Blackfan anemia 17		ISO	RGD:732460	D	RGD:7240710	20190315	OMIM			
8727959	Rps27	ribosomal protein S27	gene	DOID:0111880	Diamond-Blackfan anemia 17		ISO	RGD:732460	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia 17 | ClinVar Annotator: match by term: RPS27-related condition	PMID:25741868|PMID:28492532
8727959	Rps27	ribosomal protein S27	gene	DOID:10534	stomach cancer		ISO	RGD:732460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8727959	Rps27	ribosomal protein S27	gene	DOID:3275	thymoma		ISO	RGD:732460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8727959	Rps27	ribosomal protein S27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727959	Rps27	ribosomal protein S27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8727981	Tspan14	tetraspanin 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8727981	Tspan14	tetraspanin 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8727981	Tspan14	tetraspanin 14	gene	DOID:10534	stomach cancer		ISO	RGD:1342494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8727981	Tspan14	tetraspanin 14	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1342494	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:33589840
8727981	Tspan14	tetraspanin 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8727981	Tspan14	tetraspanin 14	gene	DOID:3275	thymoma		ISO	RGD:1342494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8727981	Tspan14	tetraspanin 14	gene	DOID:4362	cervical cancer		ISO	RGD:1342494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8727981	Tspan14	tetraspanin 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8727981	Tspan14	tetraspanin 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8727981	Tspan14	tetraspanin 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8727981	Tspan14	tetraspanin 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8727981	Tspan14	tetraspanin 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8728018	Fgf6	fibroblast growth factor 6	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:732549	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
8728018	Fgf6	fibroblast growth factor 6	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:732549	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:2289066|REF_RGD_ID:2301089
8728018	Fgf6	fibroblast growth factor 6	gene	DOID:9000955	Acute Otitis Media		ISO	RGD:1557013	D	RGD:9068941	20210611	RGD		mRNA:decreased expression:middle ear (mouse)	PMID:21889218|REF_RGD_ID:127284853
8728018	Fgf6	fibroblast growth factor 6	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732549	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:prostate	PMID:10945637|REF_RGD_ID:2289066
8728025	Sult6b1	sulfotransferase family 6B member 1	gene	DOID:1324	lung cancer		ISO	RGD:1626598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8728025	Sult6b1	sulfotransferase family 6B member 1	gene	DOID:3275	thymoma		ISO	RGD:1626598	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8728037	Ephb6	EPH receptor B6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8728037	Ephb6	EPH receptor B6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8728037	Ephb6	EPH receptor B6	gene	DOID:1115	sarcoma		ISO	RGD:1314623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8728037	Ephb6	EPH receptor B6	gene	DOID:12365	malaria		ISO	RGD:1314624	D	RGD:9068941	20210618	RGD			PMID:25784101|REF_RGD_ID:127285023
8728037	Ephb6	EPH receptor B6	gene	DOID:1324	lung cancer		ISO	RGD:1314623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8728037	Ephb6	EPH receptor B6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8728037	Ephb6	EPH receptor B6	gene	DOID:2661	myoepithelioma		ISO	RGD:1314623	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8728037	Ephb6	EPH receptor B6	gene	DOID:5041	esophageal cancer		ISO	RGD:1314623	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8728037	Ephb6	EPH receptor B6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728037	Ephb6	EPH receptor B6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8728037	Ephb6	EPH receptor B6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8728037	Ephb6	EPH receptor B6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8728037	Ephb6	EPH receptor B6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8728075	Rhbdd3	rhomboid domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1323487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8728075	Rhbdd3	rhomboid domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1323487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8728075	Rhbdd3	rhomboid domain containing 3	gene	DOID:303	substance-related disorder		ISO	RGD:1323487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8728075	Rhbdd3	rhomboid domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1323487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8728075	Rhbdd3	rhomboid domain containing 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8728075	Rhbdd3	rhomboid domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1323487	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8728075	Rhbdd3	rhomboid domain containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8728075	Rhbdd3	rhomboid domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8728075	Rhbdd3	rhomboid domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8728075	Rhbdd3	rhomboid domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8728075	Rhbdd3	rhomboid domain containing 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1323487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8728094	Hspb7	heat shock protein family B (small) member 7	gene	DOID:10534	stomach cancer		ISO	RGD:736091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8728094	Hspb7	heat shock protein family B (small) member 7	gene	DOID:13501	Moebius syndrome		ISO	RGD:736091	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum	
8728101	Apcs	amyloid P component, serum	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:68444	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:34142820
8728101	Apcs	amyloid P component, serum	gene	DOID:3393	coronary artery disease		ISO	RGD:68444	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12714198
8728101	Apcs	amyloid P component, serum	gene	DOID:6000	congestive heart failure		ISO	RGD:68444	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16129801
8728101	Apcs	amyloid P component, serum	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68444	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19363144
8728101	Apcs	amyloid P component, serum	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:68444	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20195826
8728101	Apcs	amyloid P component, serum	gene	DOID:9120	amyloidosis		ISO	RGD:68444	D	RGD:9068941	20200609	RGD			PMID:12015594|REF_RGD_ID:1300286
8728101	Apcs	amyloid P component, serum	gene	DOID:9120	amyloidosis		ISO	RGD:736001	D	RGD:9068941	20200609	RGD			PMID:12015594|REF_RGD_ID:1300286
8728131	Aqp4	aquaporin 4	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1553166	D	RGD:9068941	20200609	RGD			PMID:20680099|REF_RGD_ID:5148028
8728131	Aqp4	aquaporin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8728131	Aqp4	aquaporin 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:735519	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8728131	Aqp4	aquaporin 4	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:735519	D	RGD:9068941	20200609	RGD			PMID:20680636|REF_RGD_ID:5148026
8728131	Aqp4	aquaporin 4	gene	DOID:0080743	transverse myelitis		ISO	RGD:735519	D	RGD:9068941	20200609	RGD			PMID:21771203|PMID:23999580|REF_RGD_ID:5148008|REF_RGD_ID:8696028
8728131	Aqp4	aquaporin 4	gene	DOID:0080855	Parkinsonism	severity	ISO	RGD:10183	D	RGD:9068941	20200609	RGD			PMID:21255222|REF_RGD_ID:5148006
8728131	Aqp4	aquaporin 4	gene	DOID:1059	intellectual disability		ISO	RGD:735519	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8728131	Aqp4	aquaporin 4	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735519	D	RGD:9068941	20200609	RGD			PMID:21107133|REF_RGD_ID:5148012
8728131	Aqp4	aquaporin 4	gene	DOID:10763	hypertension		ISO	RGD:2143	D	RGD:9068941	20200609	RGD			PMID:20156423|REF_RGD_ID:5148031
8728131	Aqp4	aquaporin 4	gene	DOID:10908	hydrocephalus	disease_progression	ISO	RGD:2143	D	RGD:9068941	20200609	RGD			PMID:21135737|REF_RGD_ID:5148011
8728131	Aqp4	aquaporin 4	gene	DOID:1210	optic neuritis		ISO	RGD:735519	D	RGD:9068941	20200609	RGD			PMID:22157536|REF_RGD_ID:9685553
8728131	Aqp4	aquaporin 4	gene	DOID:1210	optic neuritis	disease_progression	ISO	RGD:735519	D	RGD:9068941	20200609	RGD			PMID:23024849|REF_RGD_ID:8696036
8728131	Aqp4	aquaporin 4	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:2143	D	RGD:9068941	20200609	RGD			PMID:20451280|REF_RGD_ID:5148030
8728131	Aqp4	aquaporin 4	gene	DOID:12365	malaria		ISO	RGD:10183	D	RGD:9068941	20220825	MouseDO		OMIM:609148 | OMIM:611162	
8728131	Aqp4	aquaporin 4	gene	DOID:12849	autistic disorder		ISO	RGD:735519	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18435417
8728131	Aqp4	aquaporin 4	gene	DOID:13141	uveitis		ISO	RGD:2143	D	RGD:9068941	20200609	RGD			PMID:20383338|REF_RGD_ID:5148029
8728131	Aqp4	aquaporin 4	gene	DOID:13141	uveitis		ISO	RGD:2143	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina	PMID:21724913|REF_RGD_ID:5490118
8728131	Aqp4	aquaporin 4	gene	DOID:14069	cerebral malaria	disease_progression	ISO	RGD:10183	D	RGD:9068941	20200609	RGD		protein:increased expression:astrocyte:	PMID:21904632|REF_RGD_ID:8698661
8728131	Aqp4	aquaporin 4	gene	DOID:1432	blindness		ISO	RGD:735519	D	RGD:9068941	20200609	RGD		associated with Multiple Sclerosis, Relapsing-Remitting;	PMID:17702782|REF_RGD_ID:8696024
8728131	Aqp4	aquaporin 4	gene	DOID:1727	retinal vein occlusion		ISO	RGD:2143	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:retina	PMID:21487926|REF_RGD_ID:5490120
8728131	Aqp4	aquaporin 4	gene	DOID:1824	status epilepticus		ISO	RGD:10183	D	RGD:9068941	20200609	RGD			PMID:22361023|REF_RGD_ID:8695999
8728131	Aqp4	aquaporin 4	gene	DOID:1824	status epilepticus		ISO	RGD:2143	D	RGD:9068941	20200609	RGD			PMID:20886625|REF_RGD_ID:5148023
8728131	Aqp4	aquaporin 4	gene	DOID:1824	status epilepticus		ISO	RGD:735519	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20886625
8728131	Aqp4	aquaporin 4	gene	DOID:1824	status epilepticus	severity	ISO	RGD:10183	D	RGD:9068941	20200609	RGD			PMID:22361023|REF_RGD_ID:8695999
8728131	Aqp4	aquaporin 4	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:2143	D	RGD:9068941	20250313	RGD			PMID:24773551|PMID:28396190|REF_RGD_ID:13207320|REF_RGD_ID:597978119
8728131	Aqp4	aquaporin 4	gene	DOID:2316	brain ischemia		ISO	RGD:2143	D	RGD:9068941	20200609	RGD			PMID:19616516|REF_RGD_ID:5490152
8728131	Aqp4	aquaporin 4	gene	DOID:3275	thymoma		ISO	RGD:735519	D	RGD:9068941	20200609	RGD		associated with Myasthenia Gravis	PMID:20728226|REF_RGD_ID:5148025
8728131	Aqp4	aquaporin 4	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:2143	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:spinal cord	PMID:19089902|REF_RGD_ID:5490153
8728131	Aqp4	aquaporin 4	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:2143	D	RGD:9068941	20200609	RGD		protein:increased expression:brainstem	PMID:22987392|REF_RGD_ID:8662893
8728131	Aqp4	aquaporin 4	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:735519	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple (human)	PMID:19864112|REF_RGD_ID:5148036
8728131	Aqp4	aquaporin 4	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:2143	D	RGD:9068941	20221110	RGD			PMID:20815926|PMID:33127515|REF_RGD_ID:155646130|REF_RGD_ID:8695955
8728131	Aqp4	aquaporin 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:735519	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8728131	Aqp4	aquaporin 4	gene	DOID:4362	cervical cancer		ISO	RGD:735519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8728131	Aqp4	aquaporin 4	gene	DOID:4724	brain edema		ISO	RGD:10183	D	RGD:9068941	20200609	RGD			PMID:21187412|REF_RGD_ID:5148010
8728131	Aqp4	aquaporin 4	gene	DOID:4724	brain edema		ISO	RGD:10183	D	RGD:9068941	20200609	RGD		associated with Drug-Induced Liver Injury;protein:increased expression:cerebral cortex	PMID:20938728|REF_RGD_ID:5148020
8728131	Aqp4	aquaporin 4	gene	DOID:4724	brain edema		ISO	RGD:2143	D	RGD:9068941	20200609	RGD		associated with Anoxia	PMID:21560328|REF_RGD_ID:5148033
8728131	Aqp4	aquaporin 4	gene	DOID:4724	brain edema		ISO	RGD:2143	D	RGD:9068941	20200609	RGD		associated with Cerebral Hemorrhage	PMID:20541575|REF_RGD_ID:5490126
8728131	Aqp4	aquaporin 4	gene	DOID:4724	brain edema		ISO	RGD:2143	D	RGD:9068941	20200609	RGD		associated with Drug-Induced Liver Injury;protein:increased expression:cerebral cortex, astrocyte, plasma membrane	PMID:20720509|REF_RGD_ID:5490122
8728131	Aqp4	aquaporin 4	gene	DOID:4724	brain edema		ISO	RGD:2143	D	RGD:9068941	20200609	RGD		associated with Embolism, Fat;protein:increased expression:brain	PMID:20111877|REF_RGD_ID:5490129
8728131	Aqp4	aquaporin 4	gene	DOID:5679	retinal disease		ISO	RGD:2143	D	RGD:9068941	20200609	RGD			PMID:18836575|REF_RGD_ID:5490154
8728131	Aqp4	aquaporin 4	gene	DOID:636	central pontine myelinolysis		ISO	RGD:735519	D	RGD:9068941	20200609	RGD		protein:altered expression:basal part of pons:	PMID:24252214|REF_RGD_ID:8696006
8728131	Aqp4	aquaporin 4	gene	DOID:8869	neuromyelitis optica		ISO	RGD:10183	D	RGD:9068941	20200609	RGD			PMID:22271321|PMID:23995423|REF_RGD_ID:8695993|REF_RGD_ID:8696034
8728131	Aqp4	aquaporin 4	gene	DOID:8869	neuromyelitis optica		ISO	RGD:735519	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18509235|PMID:24070676
8728131	Aqp4	aquaporin 4	gene	DOID:8869	neuromyelitis optica		ISO	RGD:735519	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-1003A>G(human)	PMID:23116879|REF_RGD_ID:8696032
8728131	Aqp4	aquaporin 4	gene	DOID:8869	neuromyelitis optica		ISO	RGD:735519	D	RGD:9068941	20250313	RGD			PMID:16087714|PMID:20047900|PMID:23890015|PMID:26287559|REF_RGD_ID:5148024|REF_RGD_ID:5148032|REF_RGD_ID:597830176|REF_RGD_ID:8696026
8728131	Aqp4	aquaporin 4	gene	DOID:8869	neuromyelitis optica	disease_progression	ISO	RGD:735519	D	RGD:9068941	20200609	RGD		associated withHiccup;	PMID:18420727|REF_RGD_ID:8696033
8728131	Aqp4	aquaporin 4	gene	DOID:8869	neuromyelitis optica	sexual_dimorphism	ISO	RGD:735519	D	RGD:9068941	20250320	RGD			PMID:24425068|REF_RGD_ID:598092477
8728131	Aqp4	aquaporin 4	gene	DOID:8947	diabetic retinopathy		ISO	RGD:2143	D	RGD:9068941	20200609	RGD			PMID:22449442|REF_RGD_ID:8695996
8728131	Aqp4	aquaporin 4	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:10183	D	RGD:9068941	20200609	RGD			PMID:20517941|PMID:21280976|REF_RGD_ID:5148027|REF_RGD_ID:5148035
8728131	Aqp4	aquaporin 4	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2143	D	RGD:9068941	20200609	RGD			PMID:21092735|REF_RGD_ID:5148013
8728131	Aqp4	aquaporin 4	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:735519	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21092735
8728131	Aqp4	aquaporin 4	gene	DOID:9000113	Pneumococcal Meningitis		ISO	RGD:10183	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:15695511|REF_RGD_ID:8698660
8728131	Aqp4	aquaporin 4	gene	DOID:9000113	Pneumococcal Meningitis	treatment	ISO	RGD:10183	D	RGD:9068941	20200609	RGD			PMID:15695511|REF_RGD_ID:8698660
8728131	Aqp4	aquaporin 4	gene	DOID:9000307	Presbycusis	severity	ISO	RGD:10183	D	RGD:9068941	20200609	RGD			PMID:19070604|REF_RGD_ID:8695953
8728131	Aqp4	aquaporin 4	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:2143	D	RGD:9068941	20220121	RGD		mRNA:increased expression:brain:	PMID:33574749|REF_RGD_ID:127284879
8728131	Aqp4	aquaporin 4	gene	DOID:9000438	Subarachnoid Hemorrhage	exacerbates	ISO	RGD:2143	D	RGD:9068941	20220121	RGD			PMID:33574749|REF_RGD_ID:127284879
8728131	Aqp4	aquaporin 4	gene	DOID:9000489	Diffuse Axonal Injury		ISO	RGD:2143	D	RGD:9068941	20250320	RGD		protein:increased expression:brainstem	PMID:24282821|REF_RGD_ID:598092479
8728131	Aqp4	aquaporin 4	gene	DOID:9000998	Brain Injuries		ISO	RGD:10183	D	RGD:9068941	20200609	RGD			PMID:21488209|REF_RGD_ID:5148034
8728131	Aqp4	aquaporin 4	gene	DOID:9000998	Brain Injuries		ISO	RGD:2143	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex	PMID:21083433|REF_RGD_ID:5148014
8728131	Aqp4	aquaporin 4	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2143	D	RGD:9068941	20200609	RGD		associated with Spinal Cord Injuries;mRNA,protein:increased expression:brain,spinal cord:	PMID:16219025|REF_RGD_ID:8695957
8728131	Aqp4	aquaporin 4	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:2143	D	RGD:9068941	20200609	RGD			PMID:25545558|REF_RGD_ID:11541062
8728131	Aqp4	aquaporin 4	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:10183	D	RGD:9068941	20200609	RGD			PMID:23707078|REF_RGD_ID:8696030
8728131	Aqp4	aquaporin 4	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	disease_progression	ISO	RGD:10183	D	RGD:9068941	20200609	RGD			PMID:21056916|REF_RGD_ID:5148015
8728131	Aqp4	aquaporin 4	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	disease_progression	ISO	RGD:2143	D	RGD:9068941	20200609	RGD			PMID:21157915|REF_RGD_ID:5490117
8728131	Aqp4	aquaporin 4	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	severity	ISO	RGD:10183	D	RGD:9068941	20200609	RGD			PMID:19660138|REF_RGD_ID:5490116
8728131	Aqp4	aquaporin 4	gene	DOID:9003870	Herpes Simplex Encephalitis		ISO	RGD:10183	D	RGD:9068941	20200609	RGD			PMID:17454447|REF_RGD_ID:8698664
8728131	Aqp4	aquaporin 4	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:10183	D	RGD:9068941	20200609	RGD			PMID:19806476|PMID:20924629|REF_RGD_ID:5148022|REF_RGD_ID:5148037
8728131	Aqp4	aquaporin 4	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2143	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:parietal cortex	PMID:21718723|REF_RGD_ID:5684013
8728131	Aqp4	aquaporin 4	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2143	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex	PMID:20979759|REF_RGD_ID:5148016
8728131	Aqp4	aquaporin 4	gene	DOID:9005247	Megalencephalic Leukoencephalopathy with Subcortical Cysts 4		ISO	RGD:735519	D	RGD:7240710	20230726	OMIM			
8728131	Aqp4	aquaporin 4	gene	DOID:9005247	Megalencephalic Leukoencephalopathy with Subcortical Cysts 4		ISO	RGD:735519	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting	PMID:25741868
8728131	Aqp4	aquaporin 4	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2143	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:retina:	PMID:22449442|REF_RGD_ID:8695996
8728131	Aqp4	aquaporin 4	gene	DOID:9005754	Hypoalgesia		ISO	RGD:10183	D	RGD:9068941	20200609	RGD			PMID:20851747|REF_RGD_ID:8696005
8728131	Aqp4	aquaporin 4	gene	DOID:9006089	Opticospinal Multiple Sclerosis		ISO	RGD:735519	D	RGD:9068941	20200609	RGD			PMID:17468440|REF_RGD_ID:8698645
8728131	Aqp4	aquaporin 4	gene	DOID:9006205	Animal Disease Models		ISO	RGD:735519	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8728131	Aqp4	aquaporin 4	gene	DOID:9006302	Binge Drinking		ISO	RGD:2143	D	RGD:9068941	20250320	RGD		protein:increased expression:hippocampus	PMID:23102656|REF_RGD_ID:598092481
8728131	Aqp4	aquaporin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8728131	Aqp4	aquaporin 4	gene	DOID:9007842	Sepsis-Associated Encephalopathy		ISO	RGD:2143	D	RGD:9068941	20250320	RGD		protein:decreased expression:cerebral cortex	PMID:31622656|REF_RGD_ID:598092488
8728131	Aqp4	aquaporin 4	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:2143	D	RGD:9068941	20200609	RGD			PMID:20216911|REF_RGD_ID:2326035
8728131	Aqp4	aquaporin 4	gene	DOID:9008681	Deafness		ISO	RGD:10183	D	RGD:9068941	20200609	RGD			PMID:11406631|REF_RGD_ID:734598
8728131	Aqp4	aquaporin 4	gene	DOID:9246	cerebral amyloid angiopathy		ISO	RGD:735519	D	RGD:9068941	20200609	RGD			PMID:21107133|REF_RGD_ID:5148012
8728131	Aqp4	aquaporin 4	gene	DOID:9282	ocular hypertension		ISO	RGD:10183	D	RGD:9068941	20200609	RGD			PMID:22943863|REF_RGD_ID:8698651
8728131	Aqp4	aquaporin 4	gene	DOID:9351	diabetes mellitus		ISO	RGD:2143	D	RGD:9068941	20200609	RGD			PMID:19748503|REF_RGD_ID:2316076
8728131	Aqp4	aquaporin 4	gene	DOID:9849	Meniere's disease		ISO	RGD:735519	D	RGD:9068941	20200609	RGD		protein:decreased expression:macula of utricle of membranous labyrinth:	PMID:20461409|REF_RGD_ID:8696022
8728131	Aqp4	aquaporin 4	gene	DOID:9849	Meniere's disease	susceptibility	ISO	RGD:735519	D	RGD:9068941	20200609	RGD		DNA:conservative mutation:cds:c.105G>C(human)	PMID:21063116|REF_RGD_ID:8696023
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:0060260	ptosis		ISO	RGD:1351460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:11448970|PMID:11509994|PMID:20301495|PMID:21484869|PMID:22593002|PMID:25255367|PMID:25741868|PMID:26257134|PMID:28197878|PMID:28492532
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:0061203	maple syrup urine disease type IA		ISO	RGD:1351460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease type 1A	PMID:11448970|PMID:11509994|PMID:20301495|PMID:21484869|PMID:22350544|PMID:22593002|PMID:25255367|PMID:25741868|PMID:26232051|PMID:26257134|PMID:28197878|PMID:28492532|PMID:30293248
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:0061206	maple syrup urine disease type IB		ISO	RGD:1351460	D	RGD:7240710	20240214	OMIM			
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:0061206	maple syrup urine disease type IB		ISO	RGD:1351460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BCKDHB-related condition | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE IB | ClinVar Annotator: match by term: Maple syrup urine disease type 1B | ClinVar Annotator: match by term: Maple syrup urine disease, type Ib | ClinVar Annotator: match by term: maple syrup urine disease type 1B	PMID:0228974|PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19480318|PMID:19715473|PMID:20301495|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25381949|PMID:25525159|PMID:25741868|PMID:25748408|PMID:26232051|PMID:26239723|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28612395|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:30014008|PMID:30228974|PMID:30293248|PMID:31112740|PMID:31119508|PMID:31251765|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32812330|PMID:33300147|PMID:33955723|PMID:34556729|PMID:34883003|PMID:35281663|PMID:35611242|PMID:36874425|PMID:36911408|PMID:37421976|PMID:38146699|PMID:38837343|PMID:38957900|PMID:39456016|PMID:39519275|PMID:39723122|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:1351460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:10907	microcephaly		ISO	RGD:1351460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:1115	sarcoma		ISO	RGD:1351460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:11155	hypohidrosis		ISO	RGD:1351460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:11448970|PMID:11509994|PMID:20301495|PMID:21484869|PMID:22593002|PMID:25255367|PMID:25741868|PMID:26257134|PMID:28197878|PMID:28492532
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:11714	gestational diabetes		ISO	RGD:1351460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:25741868|PMID:28492532|PMID:30293248
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1351460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:11448970|PMID:11509994|PMID:20301495|PMID:21484869|PMID:22593002|PMID:25255367|PMID:25741868|PMID:26257134|PMID:28197878|PMID:28492532
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:1324	lung cancer		ISO	RGD:1351460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:1826	epilepsy		ISO	RGD:1351460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:30293248
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:2030	anxiety disorder		ISO	RGD:1351460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:11448970|PMID:11509994|PMID:20301495|PMID:21484869|PMID:22593002|PMID:25255367|PMID:25741868|PMID:26257134|PMID:28197878|PMID:28492532
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:2841	asthma		ISO	RGD:1351460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:11448970|PMID:11509994|PMID:20301495|PMID:21484869|PMID:22593002|PMID:25255367|PMID:25741868|PMID:26257134|PMID:28197878|PMID:28492532
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:480	movement disease		ISO	RGD:1351460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:11448970|PMID:11509994|PMID:20301495|PMID:21484869|PMID:22593002|PMID:25255367|PMID:25741868|PMID:26257134|PMID:28197878|PMID:28492532
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:630	genetic disease		ISO	RGD:1351460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11448970|PMID:11509994|PMID:20301495|PMID:21484869|PMID:22593002|PMID:25255367|PMID:25741868|PMID:26257134|PMID:28197878|PMID:28492532
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1351460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:11448970|PMID:11509994|PMID:20301495|PMID:21484869|PMID:22593002|PMID:25255367|PMID:25741868|PMID:26257134|PMID:28197878|PMID:28492532
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9003539	Hyperacusis		ISO	RGD:1351460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:11448970|PMID:11509994|PMID:20301495|PMID:21484869|PMID:22593002|PMID:25255367|PMID:25741868|PMID:26257134|PMID:28197878|PMID:28492532
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9005077	Joint Instability		ISO	RGD:1351460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:11448970|PMID:11509994|PMID:20301495|PMID:21484869|PMID:22593002|PMID:25255367|PMID:25741868|PMID:26257134|PMID:28197878|PMID:28492532
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1351460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:11448970|PMID:11509994|PMID:20301495|PMID:21484869|PMID:22593002|PMID:25255367|PMID:25741868|PMID:26257134|PMID:28197878|PMID:28492532
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9005627	Metabolic Brain Diseases		ISO	RGD:1351460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: metabolic encephalopathy	PMID:25741868|PMID:28492532|PMID:33300147
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2197	D	RGD:9068941	20200609	RGD		Protein:increased expression:liver;	PMID:9460082|REF_RGD_ID:1599467
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9007736	Vertigo		ISO	RGD:1351460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:11448970|PMID:11509994|PMID:20301495|PMID:21484869|PMID:22593002|PMID:25255367|PMID:25741868|PMID:26257134|PMID:28197878|PMID:28492532
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9008421	Epistaxis		ISO	RGD:1351460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:11448970|PMID:11509994|PMID:20301495|PMID:21484869|PMID:22593002|PMID:25255367|PMID:25741868|PMID:26257134|PMID:28197878|PMID:28492532
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9269	maple syrup urine disease		ISO	RGD:1351460	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant	PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:30228974|PMID:30298499|PMID:31112740|PMID:31119508|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32193832|PMID:32812330|PMID:33131499|PMID:33300147|PMID:34556729|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9269	maple syrup urine disease		ISO	RGD:1351460	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease	PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:20301495|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24571530|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26232051|PMID:26239723|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31251765|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32515140|PMID:32812330|PMID:33131499|PMID:33300147|PMID:33955723|PMID:34556729|PMID:35281663|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9269	maple syrup urine disease		ISO	RGD:1351460	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease	PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:19715473|PMID:20301495|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24571530|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26232051|PMID:26239723|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31251765|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32515140|PMID:32812330|PMID:33131499|PMID:33300147|PMID:33955723|PMID:34556729|PMID:35281663|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9269	maple syrup urine disease		ISO	RGD:1351460	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant	PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:19715473|PMID:20301495|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24571530|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25748408|PMID:26232051|PMID:26239723|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27629047|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:29753318|PMID:30228974|PMID:30298499|PMID:31112740|PMID:31119508|PMID:31251765|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32515140|PMID:32778825|PMID:32812330|PMID:33131499|PMID:33300147|PMID:33955723|PMID:34556729|PMID:34883003|PMID:35281663|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9269	maple syrup urine disease		ISO	RGD:1351460	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant	PMID:10903343|PMID:11112664|PMID:11448970|PMID:11509994|PMID:12646665|PMID:14504270|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:18777518|PMID:19282776|PMID:19480318|PMID:19715473|PMID:20301495|PMID:20307994|PMID:20462274|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24571530|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25748408|PMID:26232051|PMID:26239723|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27629047|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:29753318|PMID:30228974|PMID:30298499|PMID:31112740|PMID:31119508|PMID:31251765|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32515140|PMID:32778825|PMID:32812330|PMID:33131499|PMID:33300147|PMID:33955723|PMID:34556729|PMID:34883003|PMID:35281663|PMID:37421976|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098
8728142	Bckdhb	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9269	maple syrup urine disease		ISO	RGD:1351460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease	PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:18378174|PMID:19480318|PMID:20301495|PMID:21484869|PMID:22326532|PMID:22593002|PMID:22727569|PMID:24772966|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25640679|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:29753318|PMID:30228974|PMID:30293248|PMID:30298499|PMID:31119508|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32515140|PMID:33131499|PMID:33300147|PMID:33955723|PMID:34556729|PMID:37421976|PMID:8161368|PMID:9536098
8728162	Sec31a	SEC31 homolog A, COPII component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8728162	Sec31a	SEC31 homolog A, COPII component	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1350188	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22474449
8728162	Sec31a	SEC31 homolog A, COPII component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8728162	Sec31a	SEC31 homolog A, COPII component	gene	DOID:0070539	Halperin-Birk syndrome		ISO	RGD:1350188	D	RGD:7240710	20200122	OMIM			
8728162	Sec31a	SEC31 homolog A, COPII component	gene	DOID:0070539	Halperin-Birk syndrome		ISO	RGD:1350188	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies | ClinVar Annotator: match by term: SEC31A-related condition	PMID:25741868
8728162	Sec31a	SEC31 homolog A, COPII component	gene	DOID:10534	stomach cancer		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8728162	Sec31a	SEC31 homolog A, COPII component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8728162	Sec31a	SEC31 homolog A, COPII component	gene	DOID:1115	sarcoma		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8728162	Sec31a	SEC31 homolog A, COPII component	gene	DOID:1324	lung cancer		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8728162	Sec31a	SEC31 homolog A, COPII component	gene	DOID:1909	melanoma		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8728162	Sec31a	SEC31 homolog A, COPII component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8728162	Sec31a	SEC31 homolog A, COPII component	gene	DOID:4362	cervical cancer		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8728162	Sec31a	SEC31 homolog A, COPII component	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8728162	Sec31a	SEC31 homolog A, COPII component	gene	DOID:5041	esophageal cancer		ISO	RGD:1350188	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8728162	Sec31a	SEC31 homolog A, COPII component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728162	Sec31a	SEC31 homolog A, COPII component	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8728162	Sec31a	SEC31 homolog A, COPII component	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8728162	Sec31a	SEC31 homolog A, COPII component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8728162	Sec31a	SEC31 homolog A, COPII component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8728162	Sec31a	SEC31 homolog A, COPII component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8728209	Tnfaip1	TNF alpha induced protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8728209	Tnfaip1	TNF alpha induced protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8728209	Tnfaip1	TNF alpha induced protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8728209	Tnfaip1	TNF alpha induced protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1346510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8728209	Tnfaip1	TNF alpha induced protein 1	gene	DOID:1909	melanoma		ISO	RGD:1346510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8728209	Tnfaip1	TNF alpha induced protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1346510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8728209	Tnfaip1	TNF alpha induced protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8728209	Tnfaip1	TNF alpha induced protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728209	Tnfaip1	TNF alpha induced protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8728209	Tnfaip1	TNF alpha induced protein 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1346510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20665664
8728209	Tnfaip1	TNF alpha induced protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8728209	Tnfaip1	TNF alpha induced protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8728254	Tmem203	transmembrane protein 203	gene	DOID:1826	epilepsy		ISO	RGD:1605598	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizure	
8728260	Cfap45	cilia and flagella associated protein 45	gene	DOID:0051025	visceral heterotaxy 11		ISO	RGD:1604370	D	RGD:7240710	20211201	OMIM			
8728260	Cfap45	cilia and flagella associated protein 45	gene	DOID:0051025	visceral heterotaxy 11		ISO	RGD:1604370	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY | ClinVar Annotator: match by term: Heterotaxy, visceral, 11, autosomal, with male infertility	PMID:25741868
8728260	Cfap45	cilia and flagella associated protein 45	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8728260	Cfap45	cilia and flagella associated protein 45	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1604370	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:26928227
8728260	Cfap45	cilia and flagella associated protein 45	gene	DOID:3275	thymoma		ISO	RGD:1604370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8728260	Cfap45	cilia and flagella associated protein 45	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728260	Cfap45	cilia and flagella associated protein 45	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8728260	Cfap45	cilia and flagella associated protein 45	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8728260	Cfap45	cilia and flagella associated protein 45	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8728260	Cfap45	cilia and flagella associated protein 45	gene	DOID:9256	colorectal cancer		ISO	RGD:1604370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8728284	Igfn1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8728284	Igfn1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8728284	Igfn1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8728284	Igfn1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8728284	Igfn1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8728284	Igfn1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8728284	Igfn1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728284	Igfn1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8728284	Igfn1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8728284	Igfn1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8728284	Igfn1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8728284	Igfn1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1606752	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor	PMID:28492532
8728324	Nfam1	NFAT activating protein with ITAM motif 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8728324	Nfam1	NFAT activating protein with ITAM motif 1	gene	DOID:1115	sarcoma		ISO	RGD:1348005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8728324	Nfam1	NFAT activating protein with ITAM motif 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1348005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8728324	Nfam1	NFAT activating protein with ITAM motif 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8728324	Nfam1	NFAT activating protein with ITAM motif 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728347	Pgm3	phosphoglucomutase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8728347	Pgm3	phosphoglucomutase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8728347	Pgm3	phosphoglucomutase 3	gene	DOID:0111953	immunodeficiency 23		ISO	RGD:1603410	D	RGD:7240710	20180130	OMIM			
8728347	Pgm3	phosphoglucomutase 3	gene	DOID:0111953	immunodeficiency 23		ISO	RGD:1603410	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 23 | ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23	PMID:16199547|PMID:17548465|PMID:17576681|PMID:24589341|PMID:24931394|PMID:25741868|PMID:26409661|PMID:26482871|PMID:27379089|PMID:28492532|PMID:28543917|PMID:29967067|PMID:30157810|PMID:30498080|PMID:31980526|PMID:32506361|PMID:35040011|PMID:9536098
8728347	Pgm3	phosphoglucomutase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1603410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8728347	Pgm3	phosphoglucomutase 3	gene	DOID:1115	sarcoma		ISO	RGD:1603410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8728347	Pgm3	phosphoglucomutase 3	gene	DOID:3307	teratoma		ISO	RGD:1603410	D	RGD:9068941	20200609	RGD			PMID:5259759|REF_RGD_ID:2299871
8728347	Pgm3	phosphoglucomutase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1603410	D	RGD:9068941	20200609	RGD			PMID:508567|REF_RGD_ID:2299870
8728347	Pgm3	phosphoglucomutase 3	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1603410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:17548465|PMID:24589341|PMID:24931394|PMID:25741868|PMID:26482871|PMID:28492532|PMID:28543917|PMID:35040011
8728347	Pgm3	phosphoglucomutase 3	gene	DOID:630	genetic disease		ISO	RGD:1603410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8728347	Pgm3	phosphoglucomutase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8728347	Pgm3	phosphoglucomutase 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1603410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8728363	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8728363	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:10534	stomach cancer		ISO	RGD:1353326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8728363	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8728363	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:1115	sarcoma		ISO	RGD:1353326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8728363	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:1324	lung cancer		ISO	RGD:1353326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8728363	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:3275	thymoma		ISO	RGD:1353326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8728363	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:3652	Leigh disease		ISO	RGD:1353326	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868
8728363	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728363	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1353326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8728363	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8728363	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8728363	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8728391	Sack1c	scaffolding CK1 anchoring protein C	gene	DOID:10283	prostate cancer		ISO	RGD:1344185	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8728391	Sack1c	scaffolding CK1 anchoring protein C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8728391	Sack1c	scaffolding CK1 anchoring protein C	gene	DOID:5041	esophageal cancer		ISO	RGD:1344185	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8728420	Dcaf1	DDB1 and CUL4 associated factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8728420	Dcaf1	DDB1 and CUL4 associated factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8728420	Dcaf1	DDB1 and CUL4 associated factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8728420	Dcaf1	DDB1 and CUL4 associated factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8728420	Dcaf1	DDB1 and CUL4 associated factor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8728420	Dcaf1	DDB1 and CUL4 associated factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8728420	Dcaf1	DDB1 and CUL4 associated factor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8728420	Dcaf1	DDB1 and CUL4 associated factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605417	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8728420	Dcaf1	DDB1 and CUL4 associated factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728420	Dcaf1	DDB1 and CUL4 associated factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8728420	Dcaf1	DDB1 and CUL4 associated factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8728454	Cytip	cytohesin 1 interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8728454	Cytip	cytohesin 1 interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1317500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8728454	Cytip	cytohesin 1 interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1317500	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8728454	Cytip	cytohesin 1 interacting protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8728454	Cytip	cytohesin 1 interacting protein	gene	DOID:3275	thymoma		ISO	RGD:1317500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8728454	Cytip	cytohesin 1 interacting protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8728454	Cytip	cytohesin 1 interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1317500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8728454	Cytip	cytohesin 1 interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728454	Cytip	cytohesin 1 interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8728454	Cytip	cytohesin 1 interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8728466	Lingo2	leucine rich repeat and Ig domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8728466	Lingo2	leucine rich repeat and Ig domain containing 2	gene	DOID:11372	megacolon		ISO	RGD:1344562	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
8728466	Lingo2	leucine rich repeat and Ig domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728466	Lingo2	leucine rich repeat and Ig domain containing 2	gene	DOID:670	amphetamine abuse		ISO	RGD:1344562	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
8728466	Lingo2	leucine rich repeat and Ig domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8728466	Lingo2	leucine rich repeat and Ig domain containing 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1344562	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
8728466	Lingo2	leucine rich repeat and Ig domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8728506	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8728506	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8728506	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:0070042	Coffin-Siris syndrome 1		ISO	RGD:1314970	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome 1	PMID:25741868
8728506	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:0112370	Coffin-Siris syndrome 12		ISO	RGD:1314970	D	RGD:7240710	20210616	OMIM			
8728506	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:0112370	Coffin-Siris syndrome 12		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BICRA-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 12 | ClinVar Annotator: match by term: Coffin-Siris syndrome 12	PMID:25741868|PMID:25741870|PMID:33232675|PMID:37500730
8728506	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8728506	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:1059	intellectual disability		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:33232675
8728506	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8728506	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:3275	thymoma		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8728506	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8728506	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8728506	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1314970	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8728506	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728506	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8728506	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8728506	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:33232675
8728506	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314970	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:33232675
8728506	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8728506	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:33232675
8728506	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:9008582	Developmental Disease		ISO	RGD:1314970	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8728506	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8728526	Txnl4b	thioredoxin like 4B	gene	DOID:10534	stomach cancer		ISO	RGD:1344635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8728526	Txnl4b	thioredoxin like 4B	gene	DOID:4362	cervical cancer		ISO	RGD:1344635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8728526	Txnl4b	thioredoxin like 4B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728534	Rfc2	replication factor C subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8728534	Rfc2	replication factor C subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1348076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8728534	Rfc2	replication factor C subunit 2	gene	DOID:3275	thymoma		ISO	RGD:1348076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8728534	Rfc2	replication factor C subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1348076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8728534	Rfc2	replication factor C subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348076	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8728534	Rfc2	replication factor C subunit 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8728534	Rfc2	replication factor C subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728534	Rfc2	replication factor C subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8728534	Rfc2	replication factor C subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8728559	Fzd6	frizzled class receptor 6	gene	DOID:0080079	nonsyndromic congenital nail disorder 1		ISO	RGD:1343855	D	RGD:7240710	20200408	OMIM			
8728559	Fzd6	frizzled class receptor 6	gene	DOID:0080079	nonsyndromic congenital nail disorder 1		ISO	RGD:1343855	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1 | ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 1	PMID:25741868
8728559	Fzd6	frizzled class receptor 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8728559	Fzd6	frizzled class receptor 6	gene	DOID:1115	sarcoma		ISO	RGD:1343855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8728559	Fzd6	frizzled class receptor 6	gene	DOID:11156	anhidrosis		ISO	RGD:1343855	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anhidrosis	PMID:25741868
8728559	Fzd6	frizzled class receptor 6	gene	DOID:1324	lung cancer		ISO	RGD:1343855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8728559	Fzd6	frizzled class receptor 6	gene	DOID:1909	melanoma		ISO	RGD:1343855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8728559	Fzd6	frizzled class receptor 6	gene	DOID:2154	nephroblastoma		ISO	RGD:1343855	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: WILMS TUMOR	
8728559	Fzd6	frizzled class receptor 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8728559	Fzd6	frizzled class receptor 6	gene	DOID:3044	food allergy		ISO	RGD:1343855	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Food allergy	PMID:25741868
8728559	Fzd6	frizzled class receptor 6	gene	DOID:4362	cervical cancer		ISO	RGD:1343855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8728559	Fzd6	frizzled class receptor 6	gene	DOID:4407	phototoxic dermatitis		ISO	RGD:1343855	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Photosensitive dermatitis	PMID:25741868
8728559	Fzd6	frizzled class receptor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728559	Fzd6	frizzled class receptor 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8728559	Fzd6	frizzled class receptor 6	gene	DOID:630	genetic disease		ISO	RGD:1343855	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8728559	Fzd6	frizzled class receptor 6	gene	DOID:9000584	Onycholysis		ISO	RGD:1343855	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Onycholysis	PMID:25741868
8728559	Fzd6	frizzled class receptor 6	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1343855	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Non-Immune hydrops fetalis	PMID:25741868|PMID:26036949
8728559	Fzd6	frizzled class receptor 6	gene	DOID:9008586	Tooth Avulsion		ISO	RGD:1343855	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tooth avulsion	PMID:25741868
8728559	Fzd6	frizzled class receptor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8728559	Fzd6	frizzled class receptor 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8728569	Tmem270	transmembrane protein 270	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8728581	Prelid1	PRELI domain containing 1	gene	DOID:0080600	COVID-19		ISO	RGD:1604018	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8728581	Prelid1	PRELI domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8728581	Prelid1	PRELI domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1604018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8728581	Prelid1	PRELI domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1604018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8728581	Prelid1	PRELI domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8728581	Prelid1	PRELI domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728599	LOC102023082	cytochrome c oxidase subunit 6B2	gene	DOID:1115	sarcoma		ISO	RGD:1349779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8728599	LOC102023082	cytochrome c oxidase subunit 6B2	gene	DOID:5041	esophageal cancer		ISO	RGD:1349779	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8728610	Dio2	iodothyronine deiodinase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:735779	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24781735
8728610	Dio2	iodothyronine deiodinase 2	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:735779	D	RGD:9068941	20200609	RGD		protein:substitution:Thr92Ala	PMID:17224473|REF_RGD_ID:1626437
8728610	Dio2	iodothyronine deiodinase 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:735779	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8728610	Dio2	iodothyronine deiodinase 2	gene	DOID:289	endometriosis		ISO	RGD:735779	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
8728610	Dio2	iodothyronine deiodinase 2	gene	DOID:50	thyroid gland disease		ISO	RGD:735779	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23397585
8728610	Dio2	iodothyronine deiodinase 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:735779	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11425850
8728610	Dio2	iodothyronine deiodinase 2	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:735779	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.T92A (human)	PMID:18198294|REF_RGD_ID:2313696
8728610	Dio2	iodothyronine deiodinase 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:735779	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs225014, p.T92A (human)	PMID:11872697|REF_RGD_ID:2313698
8728610	Dio2	iodothyronine deiodinase 2	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:735779	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs225014, p.T92A (human)	PMID:17077128|REF_RGD_ID:1626439
8728610	Dio2	iodothyronine deiodinase 2	gene	DOID:9970	obesity	no_association	ISO	RGD:735779	D	RGD:9068941	20200609	RGD		protein:substitution:Thr92Ala	PMID:17077128|REF_RGD_ID:1626439
8728616	Il11	interleukin 11	gene	DOID:1679	cystitis		ISO	RGD:736550	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17980069
8728616	Il11	interleukin 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8728616	Il11	interleukin 11	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:736550	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25257527
8728616	Il11	interleukin 11	gene	DOID:409	liver disease		ISO	RGD:736550	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16964402
8728616	Il11	interleukin 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728616	Il11	interleukin 11	gene	DOID:9000197	Edema		ISO	RGD:736550	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17980069
8728616	Il11	interleukin 11	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:736550	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8728616	Il11	interleukin 11	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:736550	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374069|PMID:30664745
8728616	Il11	interleukin 11	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736550	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11421492
8728616	Il11	interleukin 11	gene	DOID:9008217	Hemorrhage		ISO	RGD:736550	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17980069
8728640	Eef2kmt	eukaryotic elongation factor 2 lysine methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8728640	Eef2kmt	eukaryotic elongation factor 2 lysine methyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1603258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8728640	Eef2kmt	eukaryotic elongation factor 2 lysine methyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8728640	Eef2kmt	eukaryotic elongation factor 2 lysine methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1603258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8728640	Eef2kmt	eukaryotic elongation factor 2 lysine methyltransferase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8728640	Eef2kmt	eukaryotic elongation factor 2 lysine methyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1603258	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8728640	Eef2kmt	eukaryotic elongation factor 2 lysine methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728640	Eef2kmt	eukaryotic elongation factor 2 lysine methyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8728640	Eef2kmt	eukaryotic elongation factor 2 lysine methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8728640	Eef2kmt	eukaryotic elongation factor 2 lysine methyltransferase	gene	DOID:9256	colorectal cancer		ISO	RGD:1603258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8728660	Mastl	microtubule associated serine/threonine kinase like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8728660	Mastl	microtubule associated serine/threonine kinase like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8728660	Mastl	microtubule associated serine/threonine kinase like	gene	DOID:1115	sarcoma		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8728660	Mastl	microtubule associated serine/threonine kinase like	gene	DOID:1588	thrombocytopenia		ISO	RGD:1319386	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:28492532
8728660	Mastl	microtubule associated serine/threonine kinase like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8728660	Mastl	microtubule associated serine/threonine kinase like	gene	DOID:3070	high grade glioma		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8728660	Mastl	microtubule associated serine/threonine kinase like	gene	DOID:4362	cervical cancer		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8728660	Mastl	microtubule associated serine/threonine kinase like	gene	DOID:5041	esophageal cancer		ISO	RGD:1319386	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8728660	Mastl	microtubule associated serine/threonine kinase like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728660	Mastl	microtubule associated serine/threonine kinase like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8728660	Mastl	microtubule associated serine/threonine kinase like	gene	DOID:9003390	Thrombocytopenia 2		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia 2	PMID:25741868
8728660	Mastl	microtubule associated serine/threonine kinase like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8728678	Ran	RAN, member RAS oncogene family	gene	DOID:11446	sciatic neuropathy		ISO	RGD:620367	D	RGD:9068941	20200609	RGD			PMID:18667152|REF_RGD_ID:9835000
8728678	Ran	RAN, member RAS oncogene family	gene	DOID:1909	melanoma		ISO	RGD:1348006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8728678	Ran	RAN, member RAS oncogene family	gene	DOID:305	carcinoma		ISO	RGD:1348006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462|PMID:16316942
8728678	Ran	RAN, member RAS oncogene family	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1348006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8728678	Ran	RAN, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728678	Ran	RAN, member RAS oncogene family	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8728678	Ran	RAN, member RAS oncogene family	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8728678	Ran	RAN, member RAS oncogene family	gene	DOID:8398	osteoarthritis		ISO	RGD:1348006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8728678	Ran	RAN, member RAS oncogene family	gene	DOID:9000058	Keloid		ISO	RGD:1348006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
8728678	Ran	RAN, member RAS oncogene family	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1348006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462|PMID:16316942
8728678	Ran	RAN, member RAS oncogene family	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1348006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462|PMID:16316942
8728678	Ran	RAN, member RAS oncogene family	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1348006	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:22114719|REF_RGD_ID:9835390
8728685	Spred2	sprouty related EVH1 domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8728685	Spred2	sprouty related EVH1 domain containing 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1319580	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:33589840
8728685	Spred2	sprouty related EVH1 domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1319580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8728685	Spred2	sprouty related EVH1 domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319580	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8728685	Spred2	sprouty related EVH1 domain containing 2	gene	DOID:4480	achondroplasia		ISO	RGD:1319581	D	RGD:9068941	20220825	MouseDO		OMIM:100800	
8728685	Spred2	sprouty related EVH1 domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319580	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8728685	Spred2	sprouty related EVH1 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728685	Spred2	sprouty related EVH1 domain containing 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1319580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20453842|PMID:23143596
8728685	Spred2	sprouty related EVH1 domain containing 2	gene	DOID:9001824	Noonan Syndrome 14		ISO	RGD:1319580	D	RGD:7240710	20220223	OMIM			
8728685	Spred2	sprouty related EVH1 domain containing 2	gene	DOID:9001824	Noonan Syndrome 14		ISO	RGD:1319580	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NOONAN SYNDROME 14 | ClinVar Annotator: match by term: Noonan syndrome 14	PMID:25741868
8728685	Spred2	sprouty related EVH1 domain containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8728685	Spred2	sprouty related EVH1 domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8728685	Spred2	sprouty related EVH1 domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8728704	Rbm8a	RNA binding motif protein 8A	gene	DOID:14699	thrombocytopenia-absent radius syndrome		ISO	RGD:1320809	D	RGD:7240710	20180130	OMIM			
8728704	Rbm8a	RNA binding motif protein 8A	gene	DOID:14699	thrombocytopenia-absent radius syndrome		ISO	RGD:1320809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome | ClinVar Annotator: match by term: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME | ClinVar Annotator: match by term: Thrombocytopenia Absent Radius Syndrome	PMID:16501574|PMID:17236129|PMID:17576681|PMID:20301781|PMID:22366785|PMID:23754559|PMID:24220582|PMID:25741868|PMID:27846804|PMID:28492532|PMID:32227665|PMID:33559987|PMID:33718801|PMID:34341987|PMID:36077017|PMID:37644014|PMID:9536098
8728704	Rbm8a	RNA binding motif protein 8A	gene	DOID:1588	thrombocytopenia		ISO	RGD:1320809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:34355501
8728704	Rbm8a	RNA binding motif protein 8A	gene	DOID:630	genetic disease		ISO	RGD:1320809	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20301781|PMID:25741868|PMID:32227665|PMID:33559987|PMID:33718801|PMID:34341987|PMID:37644014
8728704	Rbm8a	RNA binding motif protein 8A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8728718	Gjd2	gap junction protein delta 2	gene	DOID:11830	myopia		ISO	RGD:733205	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23396134
8728718	Gjd2	gap junction protein delta 2	gene	DOID:9004756	Brain Hypoxia		ISO	RGD:2694	D	RGD:9068941	20200609	RGD			PMID:20034754|REF_RGD_ID:7364784
8728718	Gjd2	gap junction protein delta 2	gene	DOID:9835	refractive error		ISO	RGD:733205	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20835239
8728744	Fnbp4	formin binding protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8728744	Fnbp4	formin binding protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8728744	Fnbp4	formin binding protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8728744	Fnbp4	formin binding protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8728744	Fnbp4	formin binding protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8728744	Fnbp4	formin binding protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	
8728744	Fnbp4	formin binding protein 4	gene	DOID:1909	melanoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8728744	Fnbp4	formin binding protein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8728744	Fnbp4	formin binding protein 4	gene	DOID:3070	high grade glioma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8728744	Fnbp4	formin binding protein 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8728744	Fnbp4	formin binding protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728744	Fnbp4	formin binding protein 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8728744	Fnbp4	formin binding protein 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8728744	Fnbp4	formin binding protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8728744	Fnbp4	formin binding protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8728744	Fnbp4	formin binding protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8728744	Fnbp4	formin binding protein 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8728771	Iqsec1	IQ motif and Sec7 domain ArfGEF 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8728771	Iqsec1	IQ motif and Sec7 domain ArfGEF 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8728771	Iqsec1	IQ motif and Sec7 domain ArfGEF 1	gene	DOID:0111674	intellectual developmental disorder with short stature and behavioral abnormalities		ISO	RGD:1343743	D	RGD:7240710	20200115	OMIM			
8728771	Iqsec1	IQ motif and Sec7 domain ArfGEF 1	gene	DOID:0111674	intellectual developmental disorder with short stature and behavioral abnormalities		ISO	RGD:1343743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: IQSEC1-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with short stature and behavioral abnormalities	PMID:25741868|PMID:31607425
8728771	Iqsec1	IQ motif and Sec7 domain ArfGEF 1	gene	DOID:1324	lung cancer		ISO	RGD:1343743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8728771	Iqsec1	IQ motif and Sec7 domain ArfGEF 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1343743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8728771	Iqsec1	IQ motif and Sec7 domain ArfGEF 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1343743	D	RGD:9068941	20220908	RGD		mRNA:decreased expression:lung (human)	PMID:22491060|REF_RGD_ID:153350086
8728771	Iqsec1	IQ motif and Sec7 domain ArfGEF 1	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:2543,RGD:621279	D	RGD:9068941	20220908	RGD			PMID:24902879|REF_RGD_ID:153350085
8728771	Iqsec1	IQ motif and Sec7 domain ArfGEF 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8728771	Iqsec1	IQ motif and Sec7 domain ArfGEF 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1343743	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8728771	Iqsec1	IQ motif and Sec7 domain ArfGEF 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728771	Iqsec1	IQ motif and Sec7 domain ArfGEF 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8728771	Iqsec1	IQ motif and Sec7 domain ArfGEF 1	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:1343743	D	RGD:9068941	20220901	RGD		associated with lung adenocarcinoma; protein:increased expression:lung (human)	PMID:21966491|REF_RGD_ID:153344600
8728771	Iqsec1	IQ motif and Sec7 domain ArfGEF 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343743	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
8728771	Iqsec1	IQ motif and Sec7 domain ArfGEF 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1343743	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
8728771	Iqsec1	IQ motif and Sec7 domain ArfGEF 1	gene	DOID:9006618	Liver Metastasis		ISO	RGD:1343743	D	RGD:9068941	20220901	RGD		human cells in mouse model	PMID:22662237|REF_RGD_ID:153344589
8728771	Iqsec1	IQ motif and Sec7 domain ArfGEF 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8728771	Iqsec1	IQ motif and Sec7 domain ArfGEF 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1343743	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8728771	Iqsec1	IQ motif and Sec7 domain ArfGEF 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8728771	Iqsec1	IQ motif and Sec7 domain ArfGEF 1	gene	DOID:9009121	lung metastasis		ISO	RGD:1343743	D	RGD:9068941	20220901	RGD		human cells in mouse model	PMID:18084281|REF_RGD_ID:153344604
8728830	Rmdn2	regulator of microtubule dynamics 2	gene	DOID:1115	sarcoma		ISO	RGD:1605570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8728830	Rmdn2	regulator of microtubule dynamics 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1605570	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8728857	Slc44a2	solute carrier family 44 member 2 (CTL2 blood group)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8728857	Slc44a2	solute carrier family 44 member 2 (CTL2 blood group)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8728857	Slc44a2	solute carrier family 44 member 2 (CTL2 blood group)	gene	DOID:10534	stomach cancer		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8728857	Slc44a2	solute carrier family 44 member 2 (CTL2 blood group)	gene	DOID:1115	sarcoma		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8728857	Slc44a2	solute carrier family 44 member 2 (CTL2 blood group)	gene	DOID:1909	melanoma		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8728857	Slc44a2	solute carrier family 44 member 2 (CTL2 blood group)	gene	DOID:3275	thymoma		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8728857	Slc44a2	solute carrier family 44 member 2 (CTL2 blood group)	gene	DOID:4362	cervical cancer		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8728857	Slc44a2	solute carrier family 44 member 2 (CTL2 blood group)	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8728857	Slc44a2	solute carrier family 44 member 2 (CTL2 blood group)	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8728857	Slc44a2	solute carrier family 44 member 2 (CTL2 blood group)	gene	DOID:5041	esophageal cancer		ISO	RGD:1601745	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8728857	Slc44a2	solute carrier family 44 member 2 (CTL2 blood group)	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8728857	Slc44a2	solute carrier family 44 member 2 (CTL2 blood group)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728857	Slc44a2	solute carrier family 44 member 2 (CTL2 blood group)	gene	DOID:6039	uveal melanoma		ISO	RGD:1601745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8728857	Slc44a2	solute carrier family 44 member 2 (CTL2 blood group)	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8728857	Slc44a2	solute carrier family 44 member 2 (CTL2 blood group)	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1601745	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8728857	Slc44a2	solute carrier family 44 member 2 (CTL2 blood group)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8728857	Slc44a2	solute carrier family 44 member 2 (CTL2 blood group)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8728857	Slc44a2	solute carrier family 44 member 2 (CTL2 blood group)	gene	DOID:9256	colorectal cancer		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8728904	Adora1	adenosine A1 receptor	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:2048	D	RGD:9068941	20200609	RGD			PMID:18787037|REF_RGD_ID:5129100
8728904	Adora1	adenosine A1 receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8728904	Adora1	adenosine A1 receptor	gene	DOID:0051064	left ventricular failure		ISO	RGD:2048	D	RGD:9068941	20200609	RGD		associated with Hypertrophy, Left Ventricular;protein:increased expression:left heart ventricle	PMID:17211253|REF_RGD_ID:1625225
8728904	Adora1	adenosine A1 receptor	gene	DOID:0060001	withdrawal disorder		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16226742
8728904	Adora1	adenosine A1 receptor	gene	DOID:0060500	drug allergy		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19019667
8728904	Adora1	adenosine A1 receptor	gene	DOID:10763	hypertension		ISO	RGD:2048	D	RGD:9068941	20200609	RGD			PMID:8998253|REF_RGD_ID:1625366
8728904	Adora1	adenosine A1 receptor	gene	DOID:10763	hypertension	no_association	ISO	RGD:730817	D	RGD:9068941	20200609	RGD			PMID:15257174|REF_RGD_ID:1625367
8728904	Adora1	adenosine A1 receptor	gene	DOID:10763	hypertension	treatment	ISO	RGD:2048	D	RGD:9068941	20200609	RGD		associated with diabetes mellitus, experimental	PMID:9597368|REF_RGD_ID:1625365
8728904	Adora1	adenosine A1 receptor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8728904	Adora1	adenosine A1 receptor	gene	DOID:224	transient cerebral ischemia		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23437309
8728904	Adora1	adenosine A1 receptor	gene	DOID:2841	asthma		ISO	RGD:730817	D	RGD:9068941	20200609	RGD		DNA:SNPs: :1405C>T (human)	PMID:19019667|REF_RGD_ID:4890386
8728904	Adora1	adenosine A1 receptor	gene	DOID:2841	asthma		ISO	RGD:730817	D	RGD:9068941	20200609	RGD		protein:increased expression:bronchus	PMID:17959644|REF_RGD_ID:5129097
8728904	Adora1	adenosine A1 receptor	gene	DOID:2841	asthma		ISO	RGD:730818	D	RGD:9068941	20200609	RGD			PMID:20400685|REF_RGD_ID:4145444
8728904	Adora1	adenosine A1 receptor	gene	DOID:326	ischemia		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18950269
8728904	Adora1	adenosine A1 receptor	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23437309
8728904	Adora1	adenosine A1 receptor	gene	DOID:3526	cerebral infarction		ISO	RGD:2048	D	RGD:9068941	20200609	RGD			PMID:17067559|REF_RGD_ID:1625229
8728904	Adora1	adenosine A1 receptor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:730817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8728904	Adora1	adenosine A1 receptor	gene	DOID:552	pneumonia		ISO	RGD:730818	D	RGD:9068941	20200609	RGD			PMID:15630442|REF_RGD_ID:5129098
8728904	Adora1	adenosine A1 receptor	gene	DOID:5844	myocardial infarction		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12160945
8728904	Adora1	adenosine A1 receptor	gene	DOID:850	lung disease		ISO	RGD:2048	D	RGD:9068941	20200609	RGD		associated with Reperfusion Injury	PMID:18307414|REF_RGD_ID:5129095
8728904	Adora1	adenosine A1 receptor	gene	DOID:850	lung disease		ISO	RGD:730818	D	RGD:9068941	20200609	RGD		Acute Lung Injury	PMID:20729330|REF_RGD_ID:5129093
8728904	Adora1	adenosine A1 receptor	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2048	D	RGD:9068941	20200609	RGD			PMID:18289533|PMID:20065990|REF_RGD_ID:5129094|REF_RGD_ID:5129096
8728904	Adora1	adenosine A1 receptor	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2048	D	RGD:9068941	20200609	RGD		protein:decreased expression:spinal cord	PMID:17853654|REF_RGD_ID:4890369
8728904	Adora1	adenosine A1 receptor	gene	DOID:9000184	Ventricular Fibrillation		ISO	RGD:2048	D	RGD:9068941	20200609	RGD			PMID:20334814|REF_RGD_ID:2317910
8728904	Adora1	adenosine A1 receptor	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19019667
8728904	Adora1	adenosine A1 receptor	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18950269
8728904	Adora1	adenosine A1 receptor	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19092996
8728904	Adora1	adenosine A1 receptor	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2048	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:19552053|REF_RGD_ID:2313803
8728904	Adora1	adenosine A1 receptor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2048	D	RGD:9068941	20200609	RGD		associated with Spinal Cord Injuries	PMID:20065990|REF_RGD_ID:5129094
8728904	Adora1	adenosine A1 receptor	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23437309
8728904	Adora1	adenosine A1 receptor	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:2048	D	RGD:9068941	20220616	RGD		protein:decreased expression:brain:	PMID:25720338|REF_RGD_ID:152995398
8728904	Adora1	adenosine A1 receptor	gene	DOID:9003805	Catalepsy		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9407998
8728904	Adora1	adenosine A1 receptor	gene	DOID:9004760	Paroxysmal Dyspnea		ISO	RGD:730817	D	RGD:9068941	20200609	RGD			PMID:21388992|REF_RGD_ID:5129099
8728904	Adora1	adenosine A1 receptor	gene	DOID:9005372	Inflammation		ISO	RGD:2048	D	RGD:9068941	20200609	RGD			PMID:2167912|REF_RGD_ID:5129103
8728904	Adora1	adenosine A1 receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2048	D	RGD:9068941	20200609	RGD			PMID:11593763|REF_RGD_ID:2313808
8728904	Adora1	adenosine A1 receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2048	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus	PMID:16256246|REF_RGD_ID:2313805
8728904	Adora1	adenosine A1 receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:730818	D	RGD:9068941	20200609	RGD			PMID:19276628|REF_RGD_ID:2313804
8728904	Adora1	adenosine A1 receptor	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2048	D	RGD:9068941	20200609	RGD		associated with hypertension	PMID:9597368|REF_RGD_ID:1625365
8728904	Adora1	adenosine A1 receptor	gene	DOID:9006024	Hypotension		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15641640|PMID:18313046
8728904	Adora1	adenosine A1 receptor	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15641640
8728904	Adora1	adenosine A1 receptor	gene	DOID:9007001	Bradycardia		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18313046
8728904	Adora1	adenosine A1 receptor	gene	DOID:9007039	Ventricular Dysfunction		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15641640
8728904	Adora1	adenosine A1 receptor	gene	DOID:9007692	Insulin Resistance		ISO	RGD:730817	D	RGD:9068941	20200609	RGD		associated with Obesity	PMID:11703426|REF_RGD_ID:2313807
8728904	Adora1	adenosine A1 receptor	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:2048	D	RGD:9068941	20200609	RGD			PMID:15220221|REF_RGD_ID:1625243
8728904	Adora1	adenosine A1 receptor	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:2048	D	RGD:9068941	20200609	RGD			PMID:12151769|REF_RGD_ID:1625283
8728904	Adora1	adenosine A1 receptor	gene	DOID:9970	obesity		ISO	RGD:730817	D	RGD:9068941	20200609	RGD		protein:increased expression:visceral adipose tissue:increased density of ligand binding sites on VAT in African American women compared to Caucasian women	PMID:16507638|REF_RGD_ID:1625369
8728941	Kiaa1671	KIAA1671 ortholog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2311473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8728941	Kiaa1671	KIAA1671 ortholog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2311473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8728941	Kiaa1671	KIAA1671 ortholog	gene	DOID:1115	sarcoma		ISO	RGD:2311473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8728941	Kiaa1671	KIAA1671 ortholog	gene	DOID:3275	thymoma		ISO	RGD:2311473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8728941	Kiaa1671	KIAA1671 ortholog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2311473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728941	Kiaa1671	KIAA1671 ortholog	gene	DOID:9256	colorectal cancer		ISO	RGD:2311473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8728973	Myom2	myomesin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8728973	Myom2	myomesin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8728973	Myom2	myomesin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8728973	Myom2	myomesin 2	gene	DOID:1115	sarcoma		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8728973	Myom2	myomesin 2	gene	DOID:1324	lung cancer		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8728973	Myom2	myomesin 2	gene	DOID:3070	high grade glioma		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8728973	Myom2	myomesin 2	gene	DOID:3275	thymoma		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8728973	Myom2	myomesin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8728973	Myom2	myomesin 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8728973	Myom2	myomesin 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8728973	Myom2	myomesin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343651	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8728973	Myom2	myomesin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8728973	Myom2	myomesin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8728973	Myom2	myomesin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8728973	Myom2	myomesin 2	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:1343651	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Sudden cardiac death	PMID:25741868
8728973	Myom2	myomesin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8728973	Myom2	myomesin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8729020	Serpinf1	serpin family F member 1	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:631369	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:18996124|REF_RGD_ID:2312349
8729020	Serpinf1	serpin family F member 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1342519	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8729020	Serpinf1	serpin family F member 1	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:26121037|REF_RGD_ID:27226705
8729020	Serpinf1	serpin family F member 1	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:28365916|REF_RGD_ID:27226700
8729020	Serpinf1	serpin family F member 1	gene	DOID:0110339	osteogenesis imperfecta type 3		ISO	RGD:1342519	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta type III	PMID:25741868|PMID:28492532|PMID:32770541
8729020	Serpinf1	serpin family F member 1	gene	DOID:0110350	osteogenesis imperfecta type 6		ISO	RGD:1342519	D	RGD:7240710	20180130	OMIM			
8729020	Serpinf1	serpin family F member 1	gene	DOID:0110350	osteogenesis imperfecta type 6		ISO	RGD:1342519	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE VI | ClinVar Annotator: match by term: Osteogenesis imperfecta type 6 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type VI | ClinVar Annotator: match by term: SERPINF1-related condition	PMID:16199547|PMID:17576681|PMID:21353196|PMID:21826736|PMID:25565926|PMID:25741868|PMID:27056980|PMID:28116328|PMID:28492532|PMID:30715774|PMID:32123938|PMID:32770541|PMID:35261846|PMID:37270749|PMID:37839784|PMID:9536098
8729020	Serpinf1	serpin family F member 1	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1342519	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	PMID:25741868|PMID:28492532
8729020	Serpinf1	serpin family F member 1	gene	DOID:10584	retinitis pigmentosa	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human gene in a rat model	PMID:18837062|REF_RGD_ID:8554900
8729020	Serpinf1	serpin family F member 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid, serum (human)	PMID:28320113|REF_RGD_ID:27226702
8729020	Serpinf1	serpin family F member 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:631369	D	RGD:9068941	20200609	RGD			PMID:17073149|REF_RGD_ID:2312353
8729020	Serpinf1	serpin family F member 1	gene	DOID:1074	kidney failure		ISO	RGD:1342519	D	RGD:9068941	20200723	RGD		protein:increased expression:plasma (human)	PMID:16828495|REF_RGD_ID:36174008
8729020	Serpinf1	serpin family F member 1	gene	DOID:10762	portal hypertension		ISO	RGD:631369	D	RGD:9068941	20200609	RGD		protein:increased expression:gastric wall (rat)	PMID:22024088|REF_RGD_ID:8655539
8729020	Serpinf1	serpin family F member 1	gene	DOID:1115	sarcoma		ISO	RGD:1342519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8729020	Serpinf1	serpin family F member 1	gene	DOID:11168	anogenital venereal wart	disease_progression	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:skin of body (human)	PMID:23569025|REF_RGD_ID:27226706
8729020	Serpinf1	serpin family F member 1	gene	DOID:11382	corneal neovascularization	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human gene in a rat model	PMID:19596319|REF_RGD_ID:8554890
8729020	Serpinf1	serpin family F member 1	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human protein in a mouse model	PMID:10441236|REF_RGD_ID:8554886
8729020	Serpinf1	serpin family F member 1	gene	DOID:11476	osteoporosis		ISO	RGD:1342519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoporosis	
8729020	Serpinf1	serpin family F member 1	gene	DOID:11713	diabetic angiopathy		ISO	RGD:1342519	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25381014
8729020	Serpinf1	serpin family F member 1	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1342519	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:25741868|PMID:28116328|PMID:28492532|PMID:29150909|PMID:29807018|PMID:30968248|PMID:32413570|PMID:33093841
8729020	Serpinf1	serpin family F member 1	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1342519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:21353196|PMID:21826736|PMID:25741868|PMID:28116328|PMID:28492532|PMID:32413570|PMID:33093841
8729020	Serpinf1	serpin family F member 1	gene	DOID:12986	leukostasis	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		associated with Diabetic Retinopathy; human protein in a rat model	PMID:16797605|REF_RGD_ID:8554884
8729020	Serpinf1	serpin family F member 1	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:631369	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:retina (rat)	PMID:21738387|REF_RGD_ID:8655555
8729020	Serpinf1	serpin family F member 1	gene	DOID:13141	uveitis		ISO	RGD:1342519	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19553628
8729020	Serpinf1	serpin family F member 1	gene	DOID:13141	uveitis		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		protein:increased expression:aqueous humor (human)	PMID:16973658|REF_RGD_ID:8554887
8729020	Serpinf1	serpin family F member 1	gene	DOID:13141	uveitis	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		associated with Keratitis; human protein in a rat model	PMID:19553628|REF_RGD_ID:8554902
8729020	Serpinf1	serpin family F member 1	gene	DOID:13207	proliferative diabetic retinopathy		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous fluid (human)	PMID:15059706|REF_RGD_ID:1580135
8729020	Serpinf1	serpin family F member 1	gene	DOID:13207	proliferative diabetic retinopathy	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD			PMID:11723044|REF_RGD_ID:8554895
8729020	Serpinf1	serpin family F member 1	gene	DOID:1324	lung cancer		ISO	RGD:1342519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8729020	Serpinf1	serpin family F member 1	gene	DOID:13514	venous tributary occlusion of retina		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		protein:decreased expression:vitreous humor (human)	PMID:20714746|REF_RGD_ID:8554903
8729020	Serpinf1	serpin family F member 1	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:27748324|REF_RGD_ID:27226704
8729020	Serpinf1	serpin family F member 1	gene	DOID:14115	toxic shock syndrome	severity	ISO	RGD:1342519	D	RGD:9068941	20200723	RGD		protein:decreased expression:plasma (human)	PMID:6158114|REF_RGD_ID:36174004
8729020	Serpinf1	serpin family F member 1	gene	DOID:14330	Parkinson's disease	severity	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, extracellular exosome (human)	PMID:31593110|REF_RGD_ID:27226691
8729020	Serpinf1	serpin family F member 1	gene	DOID:1727	retinal vein occlusion		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		protein:decreased expression:vitreous humor (human)	PMID:21275514|REF_RGD_ID:8554901
8729020	Serpinf1	serpin family F member 1	gene	DOID:1909	melanoma		ISO	RGD:1342519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8729020	Serpinf1	serpin family F member 1	gene	DOID:2154	nephroblastoma		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney	PMID:16863836|REF_RGD_ID:2312354
8729020	Serpinf1	serpin family F member 1	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human gene in a rat model	PMID:18624913|REF_RGD_ID:8613878
8729020	Serpinf1	serpin family F member 1	gene	DOID:2450	central retinal vein occlusion		ISO	RGD:631369	D	RGD:9068941	20200609	RGD		protein:increased expression:neuroretina (rat)	PMID:21487926|REF_RGD_ID:5490120
8729020	Serpinf1	serpin family F member 1	gene	DOID:289	endometriosis		ISO	RGD:631369	D	RGD:9068941	20200609	RGD		protein:decreased expression:endometrium (rat)	PMID:22975116|REF_RGD_ID:8638001
8729020	Serpinf1	serpin family F member 1	gene	DOID:289	endometriosis	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:23466670|REF_RGD_ID:8590225
8729020	Serpinf1	serpin family F member 1	gene	DOID:3275	thymoma		ISO	RGD:1342519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8729020	Serpinf1	serpin family F member 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:12067231|REF_RGD_ID:8554892
8729020	Serpinf1	serpin family F member 1	gene	DOID:3347	osteosarcoma	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human gene in rat model	PMID:17479108|REF_RGD_ID:8633656
8729020	Serpinf1	serpin family F member 1	gene	DOID:3347	osteosarcoma	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human protein in a mouse model	PMID:17458711|REF_RGD_ID:8655561
8729020	Serpinf1	serpin family F member 1	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:631369	D	RGD:9068941	20200609	RGD			PMID:22714093|REF_RGD_ID:8655545
8729020	Serpinf1	serpin family F member 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, pleural effusion (human)	PMID:20230924|REF_RGD_ID:27226710
8729020	Serpinf1	serpin family F member 1	gene	DOID:4448	macular degeneration		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		protein:decreased expression:optic choroid (human)	PMID:16019000|REF_RGD_ID:8554867
8729020	Serpinf1	serpin family F member 1	gene	DOID:4448	macular degeneration		ISO	RGD:631369	D	RGD:9068941	20200609	RGD		mRNA:altered expression:retina (rat)	PMID:21191149|REF_RGD_ID:8655542
8729020	Serpinf1	serpin family F member 1	gene	DOID:4449	macular retinal edema		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		associated with Branch Retinal Vein Occlusion;protein:decreased expression:vitreous humor (human)	PMID:20714746|REF_RGD_ID:8554903
8729020	Serpinf1	serpin family F member 1	gene	DOID:4449	macular retinal edema	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; human protein in a rat model	PMID:21139695|REF_RGD_ID:8655546
8729020	Serpinf1	serpin family F member 1	gene	DOID:4724	brain edema	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human protein in a mouse model	PMID:17692294|REF_RGD_ID:8554891
8729020	Serpinf1	serpin family F member 1	gene	DOID:5052	melioidosis		ISO	RGD:1342519	D	RGD:9068941	20200723	RGD		protein:increased expression:plasma (human)	PMID:23992406|PMID:25370187|REF_RGD_ID:36174010|REF_RGD_ID:36174011
8729020	Serpinf1	serpin family F member 1	gene	DOID:5052	melioidosis	severity	ISO	RGD:1332124	D	RGD:9068941	20200723	RGD			PMID:23992406|REF_RGD_ID:36174010
8729020	Serpinf1	serpin family F member 1	gene	DOID:5425	ovarian hyperstimulation syndrome	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human protein in a mouse model	PMID:23295464|REF_RGD_ID:8635395
8729020	Serpinf1	serpin family F member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8729020	Serpinf1	serpin family F member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729020	Serpinf1	serpin family F member 1	gene	DOID:6039	uveal melanoma	severity	ISO	RGD:1332124	D	RGD:9068941	20200609	RGD			PMID:23793989|REF_RGD_ID:8554893
8729020	Serpinf1	serpin family F member 1	gene	DOID:630	genetic disease		ISO	RGD:1342519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8729020	Serpinf1	serpin family F member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		associated with Human Viral Hepatitis, liver cirrhosis;protein:increased expression:serum (human)	PMID:27748324|REF_RGD_ID:27226704
8729020	Serpinf1	serpin family F member 1	gene	DOID:768	retinoblastoma	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human protein and tumor xenograft in a mouse model	PMID:19832843|REF_RGD_ID:8554870
8729020	Serpinf1	serpin family F member 1	gene	DOID:8463	corneal ulcer		ISO	RGD:1342519	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19553628
8729020	Serpinf1	serpin family F member 1	gene	DOID:8466	retinal degeneration	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human protein in a mouse model	PMID:10600408|REF_RGD_ID:8554889
8729020	Serpinf1	serpin family F member 1	gene	DOID:8544	chronic fatigue syndrome		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:16321154|REF_RGD_ID:28867246
8729020	Serpinf1	serpin family F member 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1332124	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor	PMID:18025835|REF_RGD_ID:2312344
8729020	Serpinf1	serpin family F member 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum	PMID:18455830|REF_RGD_ID:2312341
8729020	Serpinf1	serpin family F member 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNPs:promoter:g.-5740T>C, g.-5308G>A (rs12150053, rs12948385) (human)	PMID:17658465|REF_RGD_ID:2312346
8729020	Serpinf1	serpin family F member 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		protein:alternative form:vitreous humor	PMID:19365032|REF_RGD_ID:2312337
8729020	Serpinf1	serpin family F member 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:631369	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:retina	PMID:16054135|REF_RGD_ID:2312348
8729020	Serpinf1	serpin family F member 1	gene	DOID:8947	diabetic retinopathy	severity	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous humor	PMID:15059706|REF_RGD_ID:1580135
8729020	Serpinf1	serpin family F member 1	gene	DOID:9000058	Keloid		ISO	RGD:1342519	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
8729020	Serpinf1	serpin family F member 1	gene	DOID:9000058	Keloid		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		protein:increased expression:skin of body (human)	PMID:20128793|REF_RGD_ID:27226709
8729020	Serpinf1	serpin family F member 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms	PMID:15313905|REF_RGD_ID:2312355
8729020	Serpinf1	serpin family F member 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:631369	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms	PMID:15313905|REF_RGD_ID:2312355
8729020	Serpinf1	serpin family F member 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:631369	D	RGD:9068941	20200609	RGD		protein:altered expression:cerebellum (rat)	PMID:17709187|REF_RGD_ID:8622925
8729020	Serpinf1	serpin family F member 1	gene	DOID:9000998	Brain Injuries	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human gene in a rat model	PMID:20142768|REF_RGD_ID:8612994
8729020	Serpinf1	serpin family F member 1	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		protein:increased expression:aqueous humor (human)	PMID:16490490|REF_RGD_ID:8554883
8729020	Serpinf1	serpin family F member 1	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:631369	D	RGD:9068941	20200609	RGD			PMID:15312607|REF_RGD_ID:2312356
8729020	Serpinf1	serpin family F member 1	gene	DOID:9001044	Choroidal Neovascularization	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:11424092|PMID:12037010|PMID:19778186|REF_RGD_ID:27226711|REF_RGD_ID:28867245|REF_RGD_ID:8554866
8729020	Serpinf1	serpin family F member 1	gene	DOID:9001044	Choroidal Neovascularization	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:19850839|REF_RGD_ID:8655557
8729020	Serpinf1	serpin family F member 1	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:631369	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pelvic ganglion (rat)	PMID:22300381|REF_RGD_ID:7241556
8729020	Serpinf1	serpin family F member 1	gene	DOID:9001542	Albuminuria	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; human gene in a rat model	PMID:16731830|REF_RGD_ID:8554875
8729020	Serpinf1	serpin family F member 1	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human protein in a mouse model	PMID:16822505|REF_RGD_ID:8554871
8729020	Serpinf1	serpin family F member 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma (human)	PMID:18523656|REF_RGD_ID:8554896
8729020	Serpinf1	serpin family F member 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:631369	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:renal cortex, renal medulla (rat)	PMID:15616035|REF_RGD_ID:1359799
8729020	Serpinf1	serpin family F member 1	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human protein in a mouse model	PMID:23884140|REF_RGD_ID:8554865
8729020	Serpinf1	serpin family F member 1	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1342519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:21353196|PMID:25741868|PMID:28492532
8729020	Serpinf1	serpin family F member 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1342519	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21671747
8729020	Serpinf1	serpin family F member 1	gene	DOID:9002304	Prostatic Neoplasms	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human gene in a rat model	PMID:20360944|REF_RGD_ID:8593319
8729020	Serpinf1	serpin family F member 1	gene	DOID:9002589	Bone Fractures		ISO	RGD:1342519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:25741868
8729020	Serpinf1	serpin family F member 1	gene	DOID:9002669	Hypoxia		ISO	RGD:631369	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:retina (rat)	PMID:18331686|REF_RGD_ID:8655558
8729020	Serpinf1	serpin family F member 1	gene	DOID:9002909	Oxygen-Induced Retinopathy	susceptibility	ISO	RGD:631369	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:retina (rat)	PMID:11916948|REF_RGD_ID:8655544
8729020	Serpinf1	serpin family F member 1	gene	DOID:9002909	Oxygen-Induced Retinopathy	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:21281801|REF_RGD_ID:8554878
8729020	Serpinf1	serpin family F member 1	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1342519	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8729020	Serpinf1	serpin family F member 1	gene	DOID:9003646	Arterial Thrombosis	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:17850801|REF_RGD_ID:8655540
8729020	Serpinf1	serpin family F member 1	gene	DOID:9004042	Olfaction Disorders		ISO	RGD:631369	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:olfactory bulb (rat)	PMID:23825416|REF_RGD_ID:8655547
8729020	Serpinf1	serpin family F member 1	gene	DOID:9004332	Osteoarthritis, Experimental	severity	ISO	RGD:1332124	D	RGD:9068941	20200609	RGD			PMID:28122611|REF_RGD_ID:27226703
8729020	Serpinf1	serpin family F member 1	gene	DOID:9005372	Inflammation		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		associated with Diabetic Nephropathy	PMID:18322021|REF_RGD_ID:2312342
8729020	Serpinf1	serpin family F member 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:631369	D	RGD:9068941	20200609	RGD		protein:decreased expression:platelet	PMID:19237211|REF_RGD_ID:2312338
8729020	Serpinf1	serpin family F member 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:1342519	D	RGD:9068941	20200723	RGD		protein:increased expression:plasma (human)	PMID:12386642|REF_RGD_ID:36174005
8729020	Serpinf1	serpin family F member 1	gene	DOID:9005966	Staphylococcal Skin Infections	severity	ISO	RGD:1332124	D	RGD:9068941	20200723	RGD			PMID:25515118|REF_RGD_ID:36174009
8729020	Serpinf1	serpin family F member 1	gene	DOID:9006182	Carotid Artery Injuries	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human gene in a rat model	PMID:17525281|REF_RGD_ID:8618841
8729020	Serpinf1	serpin family F member 1	gene	DOID:9006550	hepatosplenic schistosomiasis		ISO	RGD:1342519	D	RGD:9068941	20200613	RGD			PMID:9038736|REF_RGD_ID:30296660
8729020	Serpinf1	serpin family F member 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1342519	D	RGD:9068941	20200611	RGD		associated with chronic kidney disease;protein:increased expression:blood (human)	PMID:11045282|REF_RGD_ID:30296653
8729020	Serpinf1	serpin family F member 1	gene	DOID:9007367	Septic Peritonitis		ISO	RGD:1342519	D	RGD:9068941	20200613	RGD		protein:increased expression:peritoneal fluid (human)	PMID:8869327|REF_RGD_ID:30296661
8729020	Serpinf1	serpin family F member 1	gene	DOID:9007558	Acute Experimental Pancreatitis		ISO	RGD:631369	D	RGD:9068941	20241212	RGD			PMID:10360224|REF_RGD_ID:8661651
8729020	Serpinf1	serpin family F member 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1342519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:21353196|PMID:25741868|PMID:28492532
8729020	Serpinf1	serpin family F member 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:19073347|REF_RGD_ID:2312339
8729020	Serpinf1	serpin family F member 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:22714715|REF_RGD_ID:8655563
8729020	Serpinf1	serpin family F member 1	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:631369	D	RGD:9068941	20200609	RGD			PMID:24288442|REF_RGD_ID:8642993
8729020	Serpinf1	serpin family F member 1	gene	DOID:9007748	Retinal Neovascularization	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		associated with Oxygen-Induced Retinopathy; human protein in a mouse model	PMID:11867604|REF_RGD_ID:8554881
8729020	Serpinf1	serpin family F member 1	gene	DOID:9007835	Sickle Cell Retinopathy		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		protein:increased expression:retinal blood vessels (human)	PMID:12957143|REF_RGD_ID:8554869
8729020	Serpinf1	serpin family F member 1	gene	DOID:9008609	Endotoxin-Induced Uveitis		ISO	RGD:631369	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina, plasma (rat)	PMID:16368716|REF_RGD_ID:1580133
8729020	Serpinf1	serpin family F member 1	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1342519	D	RGD:9068941	20220909	RGD			PMID:23393224|REF_RGD_ID:153350137
8729020	Serpinf1	serpin family F member 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18715664|REF_RGD_ID:2312340
8729020	Serpinf1	serpin family F member 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:631369	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:17653050|REF_RGD_ID:8554888
8729020	Serpinf1	serpin family F member 1	gene	DOID:9352	type 2 diabetes mellitus	severity	ISO	RGD:631369	D	RGD:9068941	20200609	RGD			PMID:24530621|REF_RGD_ID:8655541
8729020	Serpinf1	serpin family F member 1	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:24530621|REF_RGD_ID:8655541
8729020	Serpinf1	serpin family F member 1	gene	DOID:9719	neovascular inflammatory vitreoretinopathy		ISO	RGD:1342519	D	RGD:9068941	20200723	RGD		protein:increased expression:plasma (human)	PMID:18939350|REF_RGD_ID:36174007
8729020	Serpinf1	serpin family F member 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17971181|REF_RGD_ID:2312345
8729020	Serpinf1	serpin family F member 1	gene	DOID:9970	obesity		ISO	RGD:1342519	D	RGD:9068941	20200609	RGD			PMID:17491674|REF_RGD_ID:2312347
8729020	Serpinf1	serpin family F member 1	gene	DOID:9970	obesity		ISO	RGD:631369	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (rat)	PMID:24424059|REF_RGD_ID:8633067
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:0050430	multiple endocrine neoplasia type 2A		ISO	RGD:733521	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA	PMID:25741868|PMID:28492532
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy	PMID:25394176|PMID:25741868|PMID:26198225|PMID:28384794|PMID:28492532|PMID:28724664|PMID:28748451|PMID:33219105|PMID:33397043
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:0050771	pheochromocytoma		ISO	RGD:733521	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma	PMID:16199547|PMID:22974104|PMID:24781757|PMID:25741868|PMID:26467025|PMID:26556299|PMID:28384794|PMID:28492532|PMID:29177515|PMID:29978154|PMID:30877234|PMID:31263571|PMID:32534711|PMID:32782288|PMID:34750850|PMID:35053433
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:0050773	paraganglioma		ISO	RGD:733521	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata	PMID:11423010|PMID:17298551|PMID:17376234|PMID:20484225|PMID:21858060|PMID:22904323|PMID:23666964|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28384794|PMID:28492532|PMID:28546994|PMID:28724664|PMID:28873162|PMID:30201732|PMID:30680959|PMID:31527833
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:0050773	paraganglioma		ISO	RGD:733521	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:11423010|PMID:17298551|PMID:17376234|PMID:20484225|PMID:21858060|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23666964|PMID:24033266|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25720320|PMID:25741868|PMID:26467025|PMID:28384794|PMID:28492532|PMID:28546994|PMID:28714951|PMID:28724664|PMID:28798025|PMID:29177515|PMID:29978154|PMID:30201732|PMID:30680959|PMID:30775854|PMID:30854332|PMID:30877234|PMID:31527833|PMID:31589614|PMID:31981491|PMID:32462735|PMID:32570879|PMID:32581362|PMID:33854214|PMID:34014604|PMID:35059314|PMID:36010880|PMID:38473309
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:0050773	paraganglioma		ISO	RGD:733521	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas	PMID:11423010|PMID:17298551|PMID:17376234|PMID:20484225|PMID:21858060|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23666964|PMID:24033266|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25720320|PMID:25741868|PMID:26467025|PMID:28384794|PMID:28492532|PMID:28546994|PMID:28714951|PMID:28724664|PMID:28798025|PMID:29177515|PMID:29978154|PMID:30201732|PMID:30680959|PMID:30775854|PMID:30854332|PMID:30877234|PMID:31527833|PMID:31589614|PMID:31981491|PMID:32462735|PMID:32570879|PMID:32581362|PMID:33854214|PMID:34014604|PMID:35059314|PMID:35372080|PMID:36010880|PMID:38473309
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:0050773	paraganglioma		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paragangliomata	PMID:11423010|PMID:17376234|PMID:20484225|PMID:21858060|PMID:22904323|PMID:23666964|PMID:25720320|PMID:25741868|PMID:26198225|PMID:26269449|PMID:26467025|PMID:27390349|PMID:28384794|PMID:28492532|PMID:28546994|PMID:28552549|PMID:28798025|PMID:29177515|PMID:29978154|PMID:30775854|PMID:30877234|PMID:32570879|PMID:34014604|PMID:35059314|PMID:35372080|PMID:36315513|PMID:37239447|PMID:38473309|PMID:39321216|PMID:7550341
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:0050773	paraganglioma		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paragangliomata	PMID:11423010|PMID:16199547|PMID:17376234|PMID:20484225|PMID:21858060|PMID:22904323|PMID:22972948|PMID:22974104|PMID:24033266|PMID:24781757|PMID:25720320|PMID:25741868|PMID:26198225|PMID:26269449|PMID:26467025|PMID:26556299|PMID:26642834|PMID:27390349|PMID:28384794|PMID:28492532|PMID:28546994|PMID:28552549|PMID:28724664|PMID:28798025|PMID:29177515|PMID:29778030|PMID:29978154|PMID:30201732|PMID:30616628|PMID:30775854|PMID:30877234|PMID:31263571|PMID:32534711|PMID:32570879|PMID:32782288|PMID:34750850|PMID:35053433|PMID:35059314|PMID:35101336|PMID:35372080|PMID:38473309|PMID:39321216|PMID:7550341
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:0060260	ptosis		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:28492532
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:0060537	mitochondrial complex II deficiency		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SUCCINATE CoQ REDUCTASE DEFICIENCY | ClinVar Annotator: match by term: Succinate CoQ reductase deficiency	PMID:10746566|PMID:10976639|PMID:1492653|PMID:16195397|PMID:17376234|PMID:17576681|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:22429592|PMID:22517557|PMID:22677546|PMID:22955521|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24781757|PMID:25405498|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:26700204|PMID:26722403|PMID:27493882|PMID:27683074|PMID:27847310|PMID:27895137|PMID:28070496|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28798025|PMID:28819017|PMID:28873162|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30201732|PMID:30616628|PMID:30775854|PMID:30877234|PMID:30949620|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32570879|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33162331|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33960148|PMID:34286374|PMID:35059314|PMID:35101336|PMID:35441217|PMID:36289338|PMID:36315513|PMID:38473309|PMID:39321216|PMID:7550341|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:733521	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Paragangliomas familial 1	PMID:25720320|PMID:25741868|PMID:26198225|PMID:26269449|PMID:27390349|PMID:28492532|PMID:28552549|PMID:29177515|PMID:30877234|PMID:35059314
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:0061220	pheochromocytoma/paraganglioma syndrome 5		ISO	RGD:733521	D	RGD:7240710	20180130	OMIM			
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:0061220	pheochromocytoma/paraganglioma syndrome 5		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 5 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 5	PMID:10721988|PMID:10746566|PMID:10976639|PMID:11423010|PMID:12525685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16371358|PMID:16935256|PMID:17376234|PMID:17576681|PMID:17889661|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22429592|PMID:22517557|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23797725|PMID:24033266|PMID:24781757|PMID:25405498|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26642834|PMID:26689913|PMID:26700204|PMID:26722403|PMID:27011036|PMID:27390349|PMID:27493882|PMID:27683074|PMID:27847310|PMID:27895137|PMID:28070496|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28724664|PMID:28798025|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29625052|PMID:29695869|PMID:29778030|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30201732|PMID:30616628|PMID:30680959|PMID:30775854|PMID:30854332|PMID:30877234|PMID:30949620|PMID:31263571|PMID:31368675|PMID:31413764|PMID:31589614|PMID:31665838|PMID:31794323|PMID:31827275|PMID:32461654|PMID:32534711|PMID:32570879|PMID:32581362|PMID:32621582|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32887801|PMID:32971818|PMID:33077847|PMID:33162331|PMID:33372952|PMID:33397040|PMID:33606809|PMID:33674644|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34308366|PMID:34326760|PMID:34415331|PMID:34732400|PMID:34750850|PMID:35014173|PMID:35053433|PMID:35059314|PMID:35101336|PMID:35372080|PMID:35441217|PMID:35546442|PMID:35586626|PMID:35870552|PMID:36183138|PMID:36289338|PMID:36315513|PMID:36593350|PMID:36980917|PMID:37559050|PMID:38127826|PMID:38473309|PMID:38745824|PMID:39133175|PMID:39321216|PMID:7550341|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:733521	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27-altered	PMID:1492653|PMID:16195397|PMID:20489732|PMID:22677546|PMID:25741868|PMID:28492532|PMID:29978154|PMID:33162331|PMID:33960148|PMID:34286374|PMID:39321216|PMID:7550341
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:0110435	dilated cardiomyopathy 1GG		ISO	RGD:733521	D	RGD:7240710	20180418	OMIM			
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:0110435	dilated cardiomyopathy 1GG		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG	PMID:10721988|PMID:10746566|PMID:12525685|PMID:1492653|PMID:16195397|PMID:16199547|PMID:17376234|PMID:17576681|PMID:17889661|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:22429592|PMID:22517557|PMID:22677546|PMID:22955521|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23797725|PMID:24033266|PMID:24781757|PMID:25405498|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26689913|PMID:27011036|PMID:27390349|PMID:27493882|PMID:27847310|PMID:27895137|PMID:28070496|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28724664|PMID:28798025|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29489754|PMID:29625052|PMID:29695869|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30201732|PMID:30616628|PMID:30775854|PMID:30877234|PMID:30949620|PMID:31263571|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32534711|PMID:32570879|PMID:32581362|PMID:32688340|PMID:32782288|PMID:32887801|PMID:33077847|PMID:33162331|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34732400|PMID:34750850|PMID:35053433|PMID:35059314|PMID:35101336|PMID:35372080|PMID:35441217|PMID:35546442|PMID:35870552|PMID:36183138|PMID:36289338|PMID:38127826|PMID:38473309|PMID:38745824|PMID:39321216|PMID:7550341|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:10534	stomach cancer		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:1059	intellectual disability		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28492532|PMID:33960148|PMID:38473309
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:1059	intellectual disability		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217|PMID:38473309
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:10892	hypospadias		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:10907	microcephaly		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217|PMID:38473309
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:1115	sarcoma		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:11830	myopia		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:12849	autistic disorder		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:733521	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10976639|PMID:25741868|PMID:26700204|PMID:27683074|PMID:28492532|PMID:28724664|PMID:29177515|PMID:39321216
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:1324	lung cancer		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:14330	Parkinson's disease		ISO	RGD:733521	D	RGD:9068941	20200609	RGD		protein:decreased expression:substantia nigra, neuron	PMID:26605748|REF_RGD_ID:13504667
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25741868|PMID:28492532|PMID:28724664|PMID:30201732|PMID:30616628|PMID:35059314|PMID:35101336|PMID:38473309|PMID:39321216
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:1459	hypothyroidism		ISO	RGD:733521	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:10976639|PMID:25741868|PMID:26700204|PMID:27683074|PMID:28492532|PMID:28724664|PMID:29177515|PMID:39321216
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:169	neuroendocrine tumor		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuroendocrine neoplasm	PMID:28492532
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:1826	epilepsy		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217|PMID:38473309
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:3010	lobular neoplasia		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lobular breast carcinoma in situ	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:3275	thymoma		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:3371	chondrosarcoma		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chondrosarcoma	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:3459	breast carcinoma		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:28492532
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:3652	Leigh disease		ISO	RGD:733521	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy	PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28166811|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:28873162|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31527833|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33674644|PMID:33960148|PMID:7550341
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:3652	Leigh disease		ISO	RGD:733521	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:28873162|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31527833|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33674644|PMID:33960148|PMID:7550341
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:3652	Leigh disease		ISO	RGD:733521	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:28873162|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31527833|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33960148|PMID:7550341
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:3652	Leigh disease		ISO	RGD:733521	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease	PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25363768|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28714951|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31827275|PMID:32462735|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33960148|PMID:35059314|PMID:7550341
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:3652	Leigh disease		ISO	RGD:733521	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy	PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25363768|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28714951|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30276801|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31827275|PMID:32462735|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33960148|PMID:34014604|PMID:35059314|PMID:7550341
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:3652	Leigh disease		ISO	RGD:733521	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25363768|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28714951|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30276801|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31666924|PMID:31827275|PMID:32462735|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33960148|PMID:34014604|PMID:35059314|PMID:7550341
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:3652	Leigh disease		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy	PMID:11423010|PMID:1492653|PMID:16195397|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27493882|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28798025|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30201732|PMID:30616628|PMID:30775854|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32570879|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33162331|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33960148|PMID:34014604|PMID:34286374|PMID:35059314|PMID:35101336|PMID:35372080|PMID:35441217|PMID:38473309|PMID:39321216|PMID:7550341
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:733521	D	RGD:9068941	20210820	RGD		DNA:SNP: 3'utr (rs13173911) (human)	PMID:25576295|REF_RGD_ID:150340558
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:423	myopathy		ISO	RGD:733521	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Skeletal myopathy	PMID:25741868|PMID:26467025|PMID:28384794|PMID:28492532|PMID:28546994|PMID:28798025|PMID:29978154|PMID:30775854|PMID:32570879|PMID:38473309
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:4362	cervical cancer		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:4851	pilocytic astrocytoma		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pilocytic astrocytoma	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:5041	esophageal cancer		ISO	RGD:733521	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:543	dystonia		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217|PMID:38473309
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:25741868|PMID:28492532
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:5723	optic atrophy		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:7998	hyperthyroidism		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:8398	osteoarthritis		ISO	RGD:733521	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:1492653|PMID:16195397|PMID:20489732|PMID:22677546|PMID:25741868|PMID:28492532|PMID:29978154|PMID:33162331|PMID:33960148|PMID:34286374|PMID:39321216|PMID:7550341
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9000495	Tremor		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217|PMID:38473309
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9001733	Tinnitus		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9002162	Carotid Body Tumor		ISO	RGD:733521	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Carotid body tumor	PMID:16199547|PMID:22974104|PMID:24781757|PMID:25741868|PMID:26467025|PMID:26556299|PMID:28384794|PMID:28492532|PMID:29177515|PMID:29978154|PMID:30877234|PMID:31263571|PMID:32534711|PMID:32782288|PMID:34750850|PMID:35053433
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9002449	Glomus Jugulare Tumor		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glomus tumors familial 1	PMID:25720320|PMID:25741868|PMID:26198225|PMID:26269449|PMID:27390349|PMID:28492532|PMID:28552549|PMID:29177515|PMID:30877234|PMID:35059314
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9002563	Gait Ataxia		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217|PMID:38473309
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9003055	Mitochondrial Complex II Deficiency Nuclear Type 1		ISO	RGD:733521	D	RGD:7240710	20210203	OMIM			
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9003055	Mitochondrial Complex II Deficiency Nuclear Type 1		ISO	RGD:733521	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1	PMID:10721988|PMID:10746566|PMID:10976639|PMID:11004445|PMID:11423010|PMID:12525685|PMID:12794685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:17889661|PMID:18156177|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:20551992|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22517557|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23633203|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24096523|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26443593|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26642834|PMID:26689913|PMID:26700204|PMID:26722403|PMID:2674654|PMID:26833332|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27391121|PMID:27493882|PMID:27535533|PMID:27683039|PMID:27683074|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28070496|PMID:28380452|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28748451|PMID:28750076|PMID:28798025|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29488078|PMID:29489754|PMID:29514959|PMID:29527294|PMID:29625052|PMID:29695869|PMID:29778030|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30276801|PMID:30455982|PMID:30541135|PMID:30549360|PMID:30680959|PMID:30703481|PMID:30775854|PMID:30854332|PMID:30877234|PMID:30949620|PMID:31069529|PMID:31212687|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31665838|PMID:31666924|PMID:31794323|PMID:31827275|PMID:31981491|PMID:32091409|PMID:32255556|PMID:32373528|PMID:32461654|PMID:32462735|PMID:32561571|PMID:32570879|PMID:32581362|PMID:32621582|PMID:32688340|PMID:32694775|PMID:32741965|PMID:32782288|PMID:32887801|PMID:32971818|PMID:33077847|PMID:33219105|PMID:33362715|PMID:33372952|PMID:33397040|PMID:33397043|PMID:33500567|PMID:33606809|PMID:33674644|PMID:33715142|PMID:33726816|PMID:33854214|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34645491|PMID:34711244|PMID:34732400|PMID:34750850|PMID:34754157|PMID:35014173|PMID:35059314|PMID:35441217|PMID:35546442|PMID:35598585|PMID:35966080|PMID:36183138|PMID:36253524|PMID:36315513|PMID:36757698|PMID:37873498|PMID:37904629|PMID:38473309|PMID:7550341|PMID:8967754|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9003055	Mitochondrial Complex II Deficiency Nuclear Type 1		ISO	RGD:733521	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1	PMID:10721988|PMID:10746566|PMID:10976639|PMID:11004445|PMID:11423010|PMID:12525685|PMID:12794685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:17889661|PMID:18156177|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:20551992|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22517557|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23633203|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24096523|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26443593|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26642834|PMID:26689913|PMID:26700204|PMID:26722403|PMID:2674654|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27391121|PMID:27493882|PMID:27535533|PMID:27683039|PMID:27683074|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28070496|PMID:28380452|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28748451|PMID:28750076|PMID:28798025|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29488078|PMID:29489754|PMID:29514959|PMID:29527294|PMID:29625052|PMID:29695869|PMID:29778030|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30276801|PMID:30455982|PMID:30541135|PMID:30549360|PMID:30680959|PMID:30703481|PMID:30775854|PMID:30854332|PMID:30877234|PMID:30949620|PMID:31069529|PMID:31212687|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31665838|PMID:31666924|PMID:31794323|PMID:31827275|PMID:31981491|PMID:32091409|PMID:32255556|PMID:32373528|PMID:32461654|PMID:32462735|PMID:32561571|PMID:32570879|PMID:32581362|PMID:32621582|PMID:32688340|PMID:32694775|PMID:32741965|PMID:32782288|PMID:32887801|PMID:32971818|PMID:33077847|PMID:33162331|PMID:33219105|PMID:33362715|PMID:33372952|PMID:33397040|PMID:33397043|PMID:33500567|PMID:33606809|PMID:33674644|PMID:33715142|PMID:33726816|PMID:33854214|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34645491|PMID:34711244|PMID:34732400|PMID:34750850|PMID:34754157|PMID:35014173|PMID:35059314|PMID:35171114|PMID:35441217|PMID:35546442|PMID:35598585|PMID:35966080|PMID:35988656|PMID:36183138|PMID:36253524|PMID:36315513|PMID:36593350|PMID:36757698|PMID:37873498|PMID:37904629|PMID:38473309|PMID:7550341|PMID:8967754|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9003055	Mitochondrial Complex II Deficiency Nuclear Type 1		ISO	RGD:733521	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1	PMID:10721988|PMID:10746566|PMID:10976639|PMID:11004445|PMID:11423010|PMID:12525685|PMID:12794685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:17889661|PMID:18156177|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:20551992|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22517557|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23633203|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24096523|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26443593|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26637979|PMID:26642834|PMID:26689913|PMID:26700204|PMID:26722403|PMID:2674654|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27391121|PMID:27493882|PMID:27535533|PMID:27683039|PMID:27683074|PMID:27847310|PMID:27854218|PMID:27895137|PMID:27986441|PMID:28070496|PMID:28380452|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28748451|PMID:28750076|PMID:28798025|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29488078|PMID:29489754|PMID:29514959|PMID:29527294|PMID:29625052|PMID:29695869|PMID:29778030|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30276801|PMID:30455982|PMID:30541135|PMID:30549360|PMID:30680959|PMID:30703481|PMID:30775854|PMID:30854332|PMID:30877234|PMID:30949620|PMID:31069529|PMID:31212687|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31665838|PMID:31666924|PMID:31794323|PMID:31827275|PMID:31981491|PMID:32091409|PMID:32255556|PMID:32373528|PMID:32461654|PMID:32462735|PMID:32561571|PMID:32570879|PMID:32581362|PMID:32621582|PMID:32688340|PMID:32694775|PMID:32741965|PMID:32782288|PMID:32887801|PMID:32971818|PMID:33077847|PMID:33162331|PMID:33219105|PMID:33362715|PMID:33372952|PMID:33397040|PMID:33397043|PMID:33500567|PMID:33606809|PMID:33674644|PMID:33715142|PMID:33726816|PMID:33854214|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34645491|PMID:34711244|PMID:34732400|PMID:34750850|PMID:34754157|PMID:35014173|PMID:35059314|PMID:35171114|PMID:35441217|PMID:35546442|PMID:35598585|PMID:35966080|PMID:35988656|PMID:36183138|PMID:36253524|PMID:36315513|PMID:36593350|PMID:36757698|PMID:37873498|PMID:37904629|PMID:38473309|PMID:7550341|PMID:8967754|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9003055	Mitochondrial Complex II Deficiency Nuclear Type 1		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1	PMID:10721988|PMID:10746566|PMID:10976639|PMID:11004445|PMID:11423010|PMID:12525685|PMID:12794685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17376234|PMID:17576681|PMID:17889661|PMID:18156177|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:20551992|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22517557|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23633203|PMID:23666964|PMID:23730622|PMID:23797725|PMID:23849264|PMID:24033266|PMID:24694336|PMID:24781757|PMID:25394176|PMID:25405498|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26443593|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26642834|PMID:26689913|PMID:26700204|PMID:26722403|PMID:27011036|PMID:27390349|PMID:27493882|PMID:27683074|PMID:27847310|PMID:27895137|PMID:28070496|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28724664|PMID:28798025|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29514959|PMID:29625052|PMID:29695869|PMID:29778030|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30201732|PMID:30541135|PMID:30616628|PMID:30703481|PMID:30775854|PMID:30854332|PMID:30877234|PMID:30949620|PMID:31019026|PMID:31263571|PMID:31368675|PMID:31413764|PMID:31589614|PMID:31665838|PMID:31794323|PMID:31827275|PMID:32461654|PMID:32534711|PMID:32570879|PMID:32581362|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32887801|PMID:32971818|PMID:33031286|PMID:33077847|PMID:33162331|PMID:33219105|PMID:33362715|PMID:33372952|PMID:33397040|PMID:33397043|PMID:33500567|PMID:33606809|PMID:33674644|PMID:33748650|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34308366|PMID:34326760|PMID:34415331|PMID:34598035|PMID:34645491|PMID:34732400|PMID:34750850|PMID:35014173|PMID:35053433|PMID:35059314|PMID:35094435|PMID:35101336|PMID:35372080|PMID:35441217|PMID:35546442|PMID:35586626|PMID:35870552|PMID:35966080|PMID:36183138|PMID:36289338|PMID:36315513|PMID:36593350|PMID:36757698|PMID:36848172|PMID:36980917|PMID:37559050|PMID:37873498|PMID:38127826|PMID:38473309|PMID:38745824|PMID:39133175|PMID:39321216|PMID:7550341|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9003816	Macrocephaly		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217|PMID:38473309
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217|PMID:38473309
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9005607	Hereditary Paraganglioma-Pheochromocytoma Syndromes		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	PMID:11423010|PMID:17376234|PMID:20484225|PMID:21858060|PMID:22904323|PMID:22972948|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26642834|PMID:28384794|PMID:28492532|PMID:28546994|PMID:28724664|PMID:28798025|PMID:29778030|PMID:29978154|PMID:30201732|PMID:30616628|PMID:30775854|PMID:32570879|PMID:35059314|PMID:35101336|PMID:35372080|PMID:38473309|PMID:39321216|PMID:7550341
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9006014	Peritoneal Adhesions		ISO	RGD:621557	D	RGD:9068941	20200609	RGD		mRNA:increased expression:peritoneum	PMID:22569713|REF_RGD_ID:13825244
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9006617	Fatigue		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:22974104|PMID:24781757|PMID:25741868|PMID:28492532
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9006924	Cardiogenic Shock		ISO	RGD:733521	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cardiogenic shock	PMID:10976639|PMID:25741868|PMID:26700204|PMID:27683074|PMID:28492532|PMID:28724664|PMID:29177515|PMID:39321216
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733521	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10746566|PMID:11423010|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26722403|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27493882|PMID:27535533|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28166811|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28724664|PMID:28748451|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29527294|PMID:29872718|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30549360|PMID:30680959|PMID:30728243|PMID:30854332|PMID:30877234|PMID:31413764|PMID:31527833|PMID:32971818|PMID:7550341|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733521	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10746566|PMID:11423010|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26689913|PMID:26700204|PMID:26722403|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27493882|PMID:27535533|PMID:27847310|PMID:27854218|PMID:27895137|PMID:27986441|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28724664|PMID:28748451|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29527294|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30549360|PMID:30680959|PMID:30728243|PMID:30854332|PMID:30877234|PMID:31368675|PMID:31413764|PMID:31527833|PMID:31589614|PMID:31827275|PMID:31981491|PMID:32581362|PMID:32741965|PMID:32971818|PMID:33077847|PMID:33372952|PMID:33397043|PMID:33606809|PMID:33674644|PMID:33960148|PMID:34711244|PMID:7550341|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733521	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10721988|PMID:10746566|PMID:10976639|PMID:11423010|PMID:12525685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:17889661|PMID:18156177|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26689913|PMID:26700204|PMID:26722403|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27391121|PMID:27493882|PMID:27535533|PMID:27683074|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28748451|PMID:28750076|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29527294|PMID:29625052|PMID:29695869|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30541135|PMID:30549360|PMID:30680959|PMID:30728243|PMID:30854332|PMID:30877234|PMID:31069529|PMID:31212687|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31827275|PMID:31981491|PMID:32255556|PMID:32326906|PMID:32462735|PMID:32570879|PMID:32581362|PMID:32688340|PMID:32741965|PMID:32887801|PMID:32971818|PMID:33077847|PMID:33362715|PMID:33372952|PMID:33397043|PMID:33606809|PMID:33674644|PMID:33854214|PMID:33960148|PMID:34711244|PMID:35059314|PMID:7550341|PMID:8967754|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733521	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10721988|PMID:10746566|PMID:10976639|PMID:11004445|PMID:11423010|PMID:12525685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:17889661|PMID:18156177|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26443593|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26642834|PMID:26689913|PMID:26700204|PMID:26722403|PMID:2674654|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27391121|PMID:27493882|PMID:27535533|PMID:27683039|PMID:27683074|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28380452|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28748451|PMID:28750076|PMID:28798025|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29488078|PMID:29514959|PMID:29527294|PMID:29625052|PMID:29695869|PMID:29778030|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30541135|PMID:30549360|PMID:30680959|PMID:30703481|PMID:30775854|PMID:30854332|PMID:30877234|PMID:31069529|PMID:31212687|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31665838|PMID:31666924|PMID:31794323|PMID:31827275|PMID:31981491|PMID:32091409|PMID:32255556|PMID:32326906|PMID:32373528|PMID:32461654|PMID:32462735|PMID:32561571|PMID:32570879|PMID:32581362|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32887801|PMID:32971818|PMID:33077847|PMID:33219105|PMID:33362715|PMID:33372952|PMID:33397043|PMID:33606809|PMID:33674644|PMID:33715142|PMID:33726816|PMID:33854214|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34711244|PMID:34754157|PMID:35014173|PMID:35059314|PMID:35441217|PMID:35598585|PMID:36183138|PMID:36253524|PMID:36315513|PMID:36757698|PMID:7550341|PMID:8967754|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733521	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10721988|PMID:10746566|PMID:10976639|PMID:11004445|PMID:11423010|PMID:12525685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:17889661|PMID:18156177|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24096523|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26443593|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26642834|PMID:26689913|PMID:26700204|PMID:26722403|PMID:2674654|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27391121|PMID:27493882|PMID:27535533|PMID:27683039|PMID:27683074|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28380452|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28748451|PMID:28750076|PMID:28798025|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29488078|PMID:29514959|PMID:29527294|PMID:29625052|PMID:29695869|PMID:29778030|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30541135|PMID:30549360|PMID:30680959|PMID:30703481|PMID:30775854|PMID:30854332|PMID:30877234|PMID:31069529|PMID:31212687|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31665838|PMID:31666924|PMID:31794323|PMID:31827275|PMID:31981491|PMID:32091409|PMID:32255556|PMID:32326906|PMID:32373528|PMID:32461654|PMID:32462735|PMID:32561571|PMID:32570879|PMID:32581362|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32887801|PMID:32971818|PMID:33077847|PMID:33219105|PMID:33362715|PMID:33372952|PMID:33397043|PMID:33606809|PMID:33674644|PMID:33715142|PMID:33726816|PMID:33854214|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34711244|PMID:34732400|PMID:34750850|PMID:34754157|PMID:35014173|PMID:35059314|PMID:35441217|PMID:35598585|PMID:36183138|PMID:36253524|PMID:36315513|PMID:36757698|PMID:7550341|PMID:8967754|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733521	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10721988|PMID:10746566|PMID:10976639|PMID:11004445|PMID:11423010|PMID:12525685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:17889661|PMID:18156177|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22517557|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24096523|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26443593|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26642834|PMID:26689913|PMID:26700204|PMID:26722403|PMID:2674654|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27391121|PMID:27493882|PMID:27535533|PMID:27683039|PMID:27683074|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28070496|PMID:28380452|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28748451|PMID:28750076|PMID:28798025|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29488078|PMID:29514959|PMID:29527294|PMID:29625052|PMID:29695869|PMID:29778030|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30541135|PMID:30549360|PMID:30680959|PMID:30703481|PMID:30775854|PMID:30854332|PMID:30877234|PMID:30949620|PMID:31069529|PMID:31212687|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31665838|PMID:31666924|PMID:31794323|PMID:31827275|PMID:31981491|PMID:32091409|PMID:32255556|PMID:32326906|PMID:32373528|PMID:32461654|PMID:32462735|PMID:32561571|PMID:32570879|PMID:32581362|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32887801|PMID:32971818|PMID:33077847|PMID:33219105|PMID:33362715|PMID:33372952|PMID:33397040|PMID:33397043|PMID:33606809|PMID:33674644|PMID:33715142|PMID:33726816|PMID:33854214|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34645491|PMID:34711244|PMID:34732400|PMID:34750850|PMID:34754157|PMID:35014173|PMID:35059314|PMID:35441217|PMID:35546442|PMID:35598585|PMID:35966080|PMID:36183138|PMID:36253524|PMID:36315513|PMID:36757698|PMID:37873498|PMID:37904629|PMID:38473309|PMID:7550341|PMID:8967754|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733521	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10721988|PMID:10746566|PMID:10976639|PMID:11004445|PMID:11423010|PMID:12525685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:17889661|PMID:18156177|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22517557|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24096523|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26443593|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26642834|PMID:26689913|PMID:26700204|PMID:26722403|PMID:2674654|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27391121|PMID:27493882|PMID:27535533|PMID:27683039|PMID:27683074|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28070496|PMID:28380452|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28748451|PMID:28750076|PMID:28798025|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29488078|PMID:29514959|PMID:29527294|PMID:29625052|PMID:29695869|PMID:29778030|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30541135|PMID:30549360|PMID:30680959|PMID:30703481|PMID:30775854|PMID:30854332|PMID:30877234|PMID:30949620|PMID:31069529|PMID:31212687|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31665838|PMID:31666924|PMID:31794323|PMID:31827275|PMID:31981491|PMID:32091409|PMID:32255556|PMID:32326906|PMID:32373528|PMID:32461654|PMID:32462735|PMID:32561571|PMID:32570879|PMID:32581362|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32887801|PMID:32971818|PMID:33077847|PMID:33162331|PMID:33219105|PMID:33362715|PMID:33372952|PMID:33397040|PMID:33397043|PMID:33606809|PMID:33674644|PMID:33715142|PMID:33726816|PMID:33854214|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34645491|PMID:34711244|PMID:34732400|PMID:34750850|PMID:34754157|PMID:35014173|PMID:35059314|PMID:35171114|PMID:35441217|PMID:35546442|PMID:35598585|PMID:35966080|PMID:35988656|PMID:36183138|PMID:36253524|PMID:36315513|PMID:36593350|PMID:36757698|PMID:37873498|PMID:37904629|PMID:38473309|PMID:7550341|PMID:8967754|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733521	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10721988|PMID:10746566|PMID:10976639|PMID:11004445|PMID:11423010|PMID:12525685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:17889661|PMID:18156177|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22517557|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24096523|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26443593|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26637979|PMID:26642834|PMID:26689913|PMID:26700204|PMID:26722403|PMID:2674654|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27391121|PMID:27493882|PMID:27535533|PMID:27683039|PMID:27683074|PMID:27847310|PMID:27854218|PMID:27895137|PMID:27986441|PMID:28070496|PMID:28380452|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28748451|PMID:28750076|PMID:28798025|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29488078|PMID:29514959|PMID:29527294|PMID:29625052|PMID:29695869|PMID:29778030|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30541135|PMID:30549360|PMID:30680959|PMID:30703481|PMID:30775854|PMID:30854332|PMID:30877234|PMID:30949620|PMID:31069529|PMID:31212687|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31665838|PMID:31666924|PMID:31794323|PMID:31827275|PMID:31981491|PMID:32091409|PMID:32255556|PMID:32326906|PMID:32373528|PMID:32461654|PMID:32462735|PMID:32561571|PMID:32570879|PMID:32581362|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32887801|PMID:32971818|PMID:33077847|PMID:33162331|PMID:33219105|PMID:33362715|PMID:33372952|PMID:33397040|PMID:33397043|PMID:33606809|PMID:33674644|PMID:33715142|PMID:33726816|PMID:33854214|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34645491|PMID:34711244|PMID:34732400|PMID:34750850|PMID:34754157|PMID:35014173|PMID:35059314|PMID:35171114|PMID:35441217|PMID:35546442|PMID:35598585|PMID:35966080|PMID:35988656|PMID:36183138|PMID:36253524|PMID:36315513|PMID:36593350|PMID:36757698|PMID:37873498|PMID:37904629|PMID:38473309|PMID:7550341|PMID:8967754|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733521	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10721988|PMID:10746566|PMID:10976639|PMID:11004445|PMID:11423010|PMID:12525685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:17889661|PMID:18156177|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22517557|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24096523|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26443593|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26642834|PMID:26689913|PMID:26700204|PMID:26722403|PMID:2674654|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27391121|PMID:27493882|PMID:27535533|PMID:27683039|PMID:27683074|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28070496|PMID:28380452|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28748451|PMID:28750076|PMID:28798025|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29395620|PMID:29483670|PMID:29488078|PMID:29506494|PMID:29514959|PMID:29527294|PMID:29625052|PMID:29695869|PMID:29773157|PMID:29778030|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30541135|PMID:30549360|PMID:30680959|PMID:30703481|PMID:30775854|PMID:30854332|PMID:30877234|PMID:30949620|PMID:31069529|PMID:31212687|PMID:31263571|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31665838|PMID:31666924|PMID:31794323|PMID:31827275|PMID:31981491|PMID:32091409|PMID:32255556|PMID:32326906|PMID:32373528|PMID:32461654|PMID:32462735|PMID:32561571|PMID:32570879|PMID:32581362|PMID:32621582|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32887801|PMID:32971818|PMID:33031286|PMID:33077847|PMID:33162331|PMID:33219105|PMID:33362715|PMID:33372952|PMID:33397040|PMID:33397043|PMID:33500567|PMID:33606809|PMID:33674644|PMID:33715142|PMID:33726816|PMID:33748650|PMID:33854214|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34308366|PMID:34326760|PMID:34363016|PMID:34645491|PMID:34711244|PMID:34732400|PMID:34750850|PMID:34754157|PMID:35014173|PMID:35059314|PMID:35145582|PMID:35171114|PMID:35372080|PMID:35441217|PMID:35546442|PMID:35586626|PMID:35598585|PMID:35626111|PMID:35966080|PMID:35988656|PMID:36010880|PMID:36149413|PMID:36183138|PMID:36253524|PMID:36289338|PMID:36315513|PMID:36593350|PMID:36757698|PMID:36980917|PMID:37536918|PMID:37575640|PMID:37873498|PMID:37904629|PMID:37932340|PMID:38127826|PMID:38408048|PMID:38416847|PMID:38473309|PMID:39113632|PMID:39133175|PMID:7550341|PMID:8967754|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733521	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10721988|PMID:10746566|PMID:10976639|PMID:11004445|PMID:11423010|PMID:12525685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:17889661|PMID:18156177|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22517557|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24096523|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26443593|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26642834|PMID:26689913|PMID:26700204|PMID:26722403|PMID:2674654|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27391121|PMID:27493882|PMID:27535533|PMID:27683039|PMID:27683074|PMID:27847310|PMID:27854218|PMID:27895137|PMID:27986441|PMID:28070496|PMID:28380452|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28748451|PMID:28750076|PMID:28798025|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29395620|PMID:29483670|PMID:29485843|PMID:29488078|PMID:29506494|PMID:29514959|PMID:29527294|PMID:29625052|PMID:29695869|PMID:29773157|PMID:29778030|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30541135|PMID:30549360|PMID:30680959|PMID:30703481|PMID:30775854|PMID:30854332|PMID:30877234|PMID:30949620|PMID:31069529|PMID:31212687|PMID:31263571|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31665838|PMID:31666924|PMID:31794323|PMID:31827275|PMID:31981491|PMID:32091409|PMID:32255556|PMID:32326906|PMID:32373528|PMID:32461654|PMID:32462735|PMID:32561571|PMID:32570879|PMID:32581362|PMID:32621582|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32887801|PMID:32971818|PMID:33031286|PMID:33077847|PMID:33162331|PMID:33219105|PMID:33362715|PMID:33372952|PMID:33397040|PMID:33397043|PMID:33500567|PMID:33606809|PMID:33674644|PMID:33715142|PMID:33726816|PMID:33748650|PMID:33854214|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34308366|PMID:34326760|PMID:34363016|PMID:34415331|PMID:34645491|PMID:34711244|PMID:34732400|PMID:34750850|PMID:34754157|PMID:35014173|PMID:35059314|PMID:35145582|PMID:35171114|PMID:35372080|PMID:35441217|PMID:35546442|PMID:35586626|PMID:35598585|PMID:35626111|PMID:35966080|PMID:35988656|PMID:36010880|PMID:36149413|PMID:36183138|PMID:36253524|PMID:36289338|PMID:36315513|PMID:36593350|PMID:36757698|PMID:36980917|PMID:37536918|PMID:37575640|PMID:37873498|PMID:37904629|PMID:37932340|PMID:38127826|PMID:38408048|PMID:38416847|PMID:38473309|PMID:39113632|PMID:39133175|PMID:39321216|PMID:7550341|PMID:8967754|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10721988|PMID:10746566|PMID:10976639|PMID:11423010|PMID:12525685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16371358|PMID:16935256|PMID:17376234|PMID:17576681|PMID:17889661|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22517557|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23282968|PMID:23612575|PMID:23633203|PMID:23666964|PMID:23797725|PMID:24096523|PMID:24781757|PMID:25394176|PMID:25405498|PMID:25720320|PMID:25741868|PMID:26198225|PMID:26269449|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26700204|PMID:26722403|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27493882|PMID:27683074|PMID:27847310|PMID:28070496|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28724664|PMID:28748451|PMID:28798025|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29305721|PMID:29483670|PMID:29625052|PMID:29695869|PMID:29804836|PMID:29978154|PMID:30201732|PMID:30775854|PMID:30854332|PMID:30877234|PMID:30949620|PMID:32326906|PMID:32570879|PMID:32741965|PMID:32887801|PMID:32971818|PMID:33162331|PMID:33219105|PMID:33362715|PMID:33397040|PMID:33397043|PMID:33606809|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34308366|PMID:34326760|PMID:34415331|PMID:34732400|PMID:35014173|PMID:35059314|PMID:35372080|PMID:35586626|PMID:36183138|PMID:36289338|PMID:36315513|PMID:36593350|PMID:36841802|PMID:36980917|PMID:37064335|PMID:37239447|PMID:37559050|PMID:38127826|PMID:38473309|PMID:38745824|PMID:39133175|PMID:39321216|PMID:7550341|PMID:8967754|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733521	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10721988|PMID:10746566|PMID:10976639|PMID:11423010|PMID:12525685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16371358|PMID:16935256|PMID:17376234|PMID:17576681|PMID:17889661|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22517557|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23282968|PMID:23612575|PMID:23633203|PMID:23666964|PMID:23797725|PMID:24096523|PMID:24781757|PMID:25394176|PMID:25405498|PMID:25720320|PMID:25741868|PMID:26198225|PMID:26269449|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26700204|PMID:26722403|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27493882|PMID:27683074|PMID:27847310|PMID:28070496|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28724664|PMID:28748451|PMID:28798025|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29305721|PMID:29483670|PMID:29625052|PMID:29695869|PMID:29804836|PMID:29978154|PMID:30201732|PMID:30775854|PMID:30854332|PMID:30877234|PMID:30949620|PMID:32326906|PMID:32570879|PMID:32741965|PMID:32887801|PMID:32971818|PMID:33162331|PMID:33219105|PMID:33362715|PMID:33397040|PMID:33397043|PMID:33606809|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34308366|PMID:34326760|PMID:34415331|PMID:34732400|PMID:35014173|PMID:35059314|PMID:35372080|PMID:35586626|PMID:36183138|PMID:36289338|PMID:36315513|PMID:36593350|PMID:36841802|PMID:36980917|PMID:37064335|PMID:37239447|PMID:37559050|PMID:38127826|PMID:38473309|PMID:38745824|PMID:39133175|PMID:39321216|PMID:7550341|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10721988|PMID:10746566|PMID:10976639|PMID:11423010|PMID:12525685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16371358|PMID:16935256|PMID:17376234|PMID:17576681|PMID:17889661|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22517557|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23633203|PMID:23666964|PMID:23730622|PMID:23797725|PMID:24033266|PMID:24096523|PMID:24781757|PMID:25405498|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26642834|PMID:26689913|PMID:26700204|PMID:26722403|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27493882|PMID:27683074|PMID:27847310|PMID:27895137|PMID:28070496|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28724664|PMID:28798025|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29305721|PMID:29483670|PMID:29625052|PMID:29695869|PMID:29778030|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30201732|PMID:30616628|PMID:30775854|PMID:30854332|PMID:30877234|PMID:30949620|PMID:31263571|PMID:31368675|PMID:31413764|PMID:31589614|PMID:31665838|PMID:31794323|PMID:31827275|PMID:32326906|PMID:32461654|PMID:32534711|PMID:32570879|PMID:32581362|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32887801|PMID:32971818|PMID:33077847|PMID:33162331|PMID:33362715|PMID:33372952|PMID:33397040|PMID:33606809|PMID:33674644|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34308366|PMID:34326760|PMID:34415331|PMID:34732400|PMID:34750850|PMID:35014173|PMID:35053433|PMID:35059314|PMID:35101336|PMID:35372080|PMID:35441217|PMID:35546442|PMID:35586626|PMID:35870552|PMID:36183138|PMID:36289338|PMID:36315513|PMID:36593350|PMID:36841802|PMID:36980917|PMID:37064335|PMID:37559050|PMID:38127826|PMID:38473309|PMID:38745824|PMID:39133175|PMID:39321216|PMID:7550341|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9007167	Carney Triad		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Carney triad	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9007573	Flatfoot		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217|PMID:38473309
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9007661	Dwarfism		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9007959	Neurodegeneration with Ataxia and Late-Onset Optic Atrophy		ISO	RGD:733521	D	RGD:7240710	20210414	OMIM			
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9007959	Neurodegeneration with Ataxia and Late-Onset Optic Atrophy		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodegeneration with ataxia and late-onset optic atrophy	PMID:10976639|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:22429592|PMID:22677546|PMID:22955521|PMID:22974104|PMID:23060355|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26689913|PMID:26700204|PMID:27683074|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28798025|PMID:28819017|PMID:28873162|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30775854|PMID:30877234|PMID:31263571|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32534711|PMID:32570879|PMID:32581362|PMID:32688340|PMID:32741965|PMID:32782288|PMID:33077847|PMID:33162331|PMID:33372952|PMID:33674644|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34415331|PMID:34732400|PMID:34750850|PMID:35053433|PMID:35059314|PMID:35372080|PMID:35441217|PMID:35546442|PMID:36183138|PMID:36289338|PMID:38473309|PMID:39133175|PMID:39321216|PMID:7550341
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733521	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:733521	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:10976639|PMID:16361598|PMID:16371358|PMID:16935256|PMID:17576681|PMID:19628817|PMID:20484225|PMID:21505157|PMID:21752896|PMID:22577165|PMID:22955521|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25405498|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27390349|PMID:27683074|PMID:27847310|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30201732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33674644|PMID:33960148|PMID:8967754|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:733521	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:10976639|PMID:16361598|PMID:16371358|PMID:16935256|PMID:17576681|PMID:19628817|PMID:20484225|PMID:21505157|PMID:21752896|PMID:22577165|PMID:22955521|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25405498|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27390349|PMID:27683074|PMID:27847310|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30201732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:8967754|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:733521	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:10976639|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17576681|PMID:19628817|PMID:20484225|PMID:21505157|PMID:21752896|PMID:22577165|PMID:22955521|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25405498|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27390349|PMID:27683074|PMID:27847310|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30201732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33397040|PMID:33674644|PMID:33960148|PMID:35059314|PMID:8967754|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:10976639|PMID:16371358|PMID:16935256|PMID:17576681|PMID:19628817|PMID:20484225|PMID:21505157|PMID:21752896|PMID:22517557|PMID:22577165|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25405498|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26642834|PMID:26689913|PMID:26700204|PMID:27011036|PMID:27390349|PMID:27683074|PMID:27847310|PMID:27895137|PMID:28070496|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28724664|PMID:28798025|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29778030|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30201732|PMID:30616628|PMID:30854332|PMID:30877234|PMID:30949620|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33397040|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35101336|PMID:35441217|PMID:35870552|PMID:36980917|PMID:37559050|PMID:38473309|PMID:39133175|PMID:39321216|PMID:9536098
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9256	colorectal cancer		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9650	pathologic nystagmus		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217|PMID:38473309
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9655	oral mucosa leukoplakia		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Oral mucosa leukoplakia	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9834	hyperopia		ISO	RGD:733521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9840	esotropia		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217|PMID:38473309
8729065	Sdha	succinate dehydrogenase complex flavoprotein subunit A	gene	DOID:9970	obesity		ISO	RGD:733521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217|PMID:38473309
8729092	Fap	fibroblast activation protein alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8729092	Fap	fibroblast activation protein alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8729092	Fap	fibroblast activation protein alpha	gene	DOID:1115	sarcoma		ISO	RGD:732069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8729092	Fap	fibroblast activation protein alpha	gene	DOID:1324	lung cancer		ISO	RGD:732069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8729092	Fap	fibroblast activation protein alpha	gene	DOID:1909	melanoma		ISO	RGD:732069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8729092	Fap	fibroblast activation protein alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8729092	Fap	fibroblast activation protein alpha	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:732069	D	RGD:9068941	20220526	RGD		protein:increased expression: esophagus	PMID:24789592|REF_RGD_ID:152600903
8729092	Fap	fibroblast activation protein alpha	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8729092	Fap	fibroblast activation protein alpha	gene	DOID:3907	lung squamous cell carcinoma	disease_progression	ISO	RGD:732069	D	RGD:9068941	20220526	RGD			PMID:26252379|REF_RGD_ID:152600901
8729092	Fap	fibroblast activation protein alpha	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:732069	D	RGD:9068941	20220526	RGD			PMID:29415055|REF_RGD_ID:152600902
8729092	Fap	fibroblast activation protein alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:732069	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8729092	Fap	fibroblast activation protein alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729092	Fap	fibroblast activation protein alpha	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8729120	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8729120	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8729120	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1315674	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
8729120	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8729120	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8729120	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8729120	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:1324	lung cancer		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8729120	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:1909	melanoma		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8729120	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8729120	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8729120	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729120	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:630	genetic disease		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:28633435|PMID:29982295|PMID:32202298
8729120	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:870	neuropathy		ISO	RGD:1315674	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:28492532
8729120	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:9002421	Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development		ISO	RGD:1315674	D	RGD:7240710	20190315	OMIM			
8729120	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:9002421	Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development		ISO	RGD:1315674	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MCM3AP-related condition | ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	PMID:17576681|PMID:25741868|PMID:28492532|PMID:28633435|PMID:29982295|PMID:32202298|PMID:9536098
8729120	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8729120	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8729120	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8729120	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:0111395	mucopolysaccharidosis type IIIA		ISO	RGD:1345995	D	RGD:7240710	20191106	OMIM			
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:0111395	mucopolysaccharidosis type IIIA		ISO	RGD:1345995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIIA | ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA | ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A | ClinVar Annotator: match by term: Mucopolysaccharidosis, type IIIA	PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:11509012|PMID:11668611|PMID:11793481|PMID:11903343|PMID:12000360|PMID:12438493|PMID:12702166|PMID:15|PMID:15146460|PMID:15542396|PMID:15637719|PMID:15902564|PMID:16174644|PMID:16199547|PMID:17128482|PMID:17576681|PMID:18254660|PMID:18407553|PMID:19046346|PMID:19099774|PMID:19383612|PMID:2015|PMID:21061399|PMID:21204211|PMID:21228398|PMID:21393040|PMID:21455105|PMID:21671382|PMID:21910976|PMID:21963080|PMID:22002444|PMID:22976768|PMID:23084433|PMID:24314109|PMID:24576347|PMID:24767253|PMID:24816101|PMID:24875751|PMID:25113300|PMID:25557439|PMID:25741868|PMID:25807448|PMID:26075876|PMID:26331342|PMID:26787381|PMID:27243974|PMID:27590925|PMID:27629047|PMID:27896117|PMID:28101780|PMID:28283807|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30070758|PMID:30593151|PMID:30809705|PMID:31046785|PMID:31536183|PMID:31718697|PMID:32036093|PMID:32214227|PMID:32447333|PMID:32581362|PMID:33105639|PMID:33673364|PMID:34047372|PMID:34276053|PMID:34690354|PMID:34712574|PMID:34813777|PMID:34828358|PMID:34991944|PMID:35005816|PMID:35221874|PMID:35291973|PMID:35629088|PMID:35835061|PMID:35848209|PMID:36918699|PMID:36964972|PMID:36972941|PMID:37430334|PMID:37596900|PMID:37597066|PMID:37772257|PMID:37787787|PMID:38149346|PMID:38374194|PMID:38730490|PMID:38841321|PMID:39201540|PMID:44|PMID:7493035|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9536098|PMID:9554748|PMID:9700599|PMID:9744479
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:1059	intellectual disability		ISO	RGD:1345995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: mental retardation	PMID:21204211|PMID:25741868|PMID:28492532|PMID:28844463
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:11830	myopia		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:12801	mucopolysaccharidosis III		ISO	RGD:1345995	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: N-acetyl-alpha-d-glucosaminidase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome	PMID:10521831|PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:11668611|PMID:12000360|PMID:12490062|PMID:15146460|PMID:15542396|PMID:18407553|PMID:19099774|PMID:21061399|PMID:21204211|PMID:21671382|PMID:21910976|PMID:22002444|PMID:22976768|PMID:22976788|PMID:24314109|PMID:24816101|PMID:24875751|PMID:25557439|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:27590925|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30809705|PMID:31536183|PMID:32581362|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9554748|PMID:9700599|PMID:9744479
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:12801	mucopolysaccharidosis III		ISO	RGD:1345995	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome	PMID:10521831|PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:11668611|PMID:12000360|PMID:12490062|PMID:12702166|PMID:15146460|PMID:15542396|PMID:18407553|PMID:19099774|PMID:21061399|PMID:21204211|PMID:21671382|PMID:21910976|PMID:22002444|PMID:22976768|PMID:22976788|PMID:24314109|PMID:24816101|PMID:24875751|PMID:25557439|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:27590925|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30809705|PMID:31536183|PMID:32581362|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9554748|PMID:9700599|PMID:9744479
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:12801	mucopolysaccharidosis III		ISO	RGD:1345995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: SULFAMIDASE DEFICIENCY	PMID:21204211|PMID:24816101|PMID:25741868|PMID:28492532|PMID:9401012
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:12835	quadriplegia		ISO	RGD:1345995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Quadriparesis	PMID:10727844|PMID:12000360|PMID:19099774|PMID:21204211|PMID:21910976|PMID:22976768|PMID:24816101|PMID:25741868|PMID:25807448|PMID:28492532|PMID:29023963|PMID:30070758|PMID:9285796|PMID:9554748
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:12849	autistic disorder		ISO	RGD:1345995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:1324	lung cancer		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:1909	melanoma		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1345995	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:22521419|PMID:24033266|PMID:25741868|PMID:26203641|PMID:26255310|PMID:28492532|PMID:30018619|PMID:30387497|PMID:31971603|PMID:36174714|PMID:36221432
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:2978	carbohydrate metabolic disorder		ISO	RGD:1345995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of mucopolysaccharide metabolism	PMID:25741868|PMID:28492532|PMID:33105639
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:3070	high grade glioma		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:3275	thymoma		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:630	genetic disease		ISO	RGD:1345995	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:25741868|PMID:25807448|PMID:26787381|PMID:28492532|PMID:29023963|PMID:31046785|PMID:31536183|PMID:31718697|PMID:32581362|PMID:35291973|PMID:35848209|PMID:9401012
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:630	genetic disease		ISO	RGD:1345995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1345995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:9003507	Premature Birth		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:9003816	Macrocephaly		ISO	RGD:1345995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:25741868
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8729168	Sgsh	N-sulfoglucosamine sulfohydrolase	gene	DOID:9841	hypotropia		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotropia	PMID:25741868
8729195	Adra1b	adrenoceptor alpha 1B	gene	DOID:10763	hypertension		ISO	RGD:10096	D	RGD:9068941	20200609	RGD			PMID:16095979|REF_RGD_ID:1625771
8729195	Adra1b	adrenoceptor alpha 1B	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:2054	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:ovary	PMID:15795180|REF_RGD_ID:5508374
8729195	Adra1b	adrenoceptor alpha 1B	gene	DOID:11832	visual epilepsy		ISO	RGD:733119	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:19125850
8729195	Adra1b	adrenoceptor alpha 1B	gene	DOID:2018	hyperinsulinism	susceptibility	ISO	RGD:10096	D	RGD:9068941	20200609	RGD			PMID:14581480|REF_RGD_ID:1625772
8729195	Adra1b	adrenoceptor alpha 1B	gene	DOID:2841	asthma		ISO	RGD:733119	D	RGD:9068941	20260430	RGD		DNA:SNP: :rs10515807	PMID:19910028|REF_RGD_ID:645238736
8729195	Adra1b	adrenoceptor alpha 1B	gene	DOID:3602	toxic encephalopathy		ISO	RGD:733119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19125850
8729195	Adra1b	adrenoceptor alpha 1B	gene	DOID:557	kidney disease		ISO	RGD:733119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18257748
8729195	Adra1b	adrenoceptor alpha 1B	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:733119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8729195	Adra1b	adrenoceptor alpha 1B	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:733119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12871582
8729195	Adra1b	adrenoceptor alpha 1B	gene	DOID:9003936	Cardiomegaly		ISO	RGD:733119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11278430|PMID:11940550
8729195	Adra1b	adrenoceptor alpha 1B	gene	DOID:9006024	Hypotension		ISO	RGD:733119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11278430
8729195	Adra1b	adrenoceptor alpha 1B	gene	DOID:9007692	Insulin Resistance	susceptibility	ISO	RGD:10096	D	RGD:9068941	20200609	RGD			PMID:14581480|REF_RGD_ID:1625772
8729233	Lasp1	LIM and SH3 protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:68601	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17376794
8729233	Lasp1	LIM and SH3 protein 1	gene	DOID:1909	melanoma		ISO	RGD:68601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8729233	Lasp1	LIM and SH3 protein 1	gene	DOID:2394	ovarian cancer		ISO	RGD:68601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
8729233	Lasp1	LIM and SH3 protein 1	gene	DOID:3275	thymoma		ISO	RGD:68601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8729233	Lasp1	LIM and SH3 protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:68601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8729233	Lasp1	LIM and SH3 protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:68601	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8729233	Lasp1	LIM and SH3 protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729233	Lasp1	LIM and SH3 protein 1	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:68601	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28232485
8729233	Lasp1	LIM and SH3 protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8729245	Ddhd2	DDHD domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8729245	Ddhd2	DDHD domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8729245	Ddhd2	DDHD domain containing 2	gene	DOID:0061280	Senior-Loken syndrome 6		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Senior-Loken syndrome 6	PMID:25741868
8729245	Ddhd2	DDHD domain containing 2	gene	DOID:0110806	hereditary spastic paraplegia 54		ISO	RGD:1318138	D	RGD:7240710	20180130	OMIM			
8729245	Ddhd2	DDHD domain containing 2	gene	DOID:0110806	hereditary spastic paraplegia 54		ISO	RGD:1318138	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 54, autosomal recessive	PMID:16199547|PMID:17576681|PMID:23176823|PMID:23486545|PMID:24482476|PMID:25741868|PMID:28492532|PMID:31271950|PMID:31302745|PMID:32488064|PMID:9536098
8729245	Ddhd2	DDHD domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8729245	Ddhd2	DDHD domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8729245	Ddhd2	DDHD domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8729245	Ddhd2	DDHD domain containing 2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1318138	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8729245	Ddhd2	DDHD domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8729245	Ddhd2	DDHD domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318138	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8729245	Ddhd2	DDHD domain containing 2	gene	DOID:5419	schizophrenia		ISO	RGD:1318138	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:33462483
8729245	Ddhd2	DDHD domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8729245	Ddhd2	DDHD domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729245	Ddhd2	DDHD domain containing 2	gene	DOID:630	genetic disease		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8729245	Ddhd2	DDHD domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8729245	Ddhd2	DDHD domain containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8729245	Ddhd2	DDHD domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8729266	Gpr37l1	G protein-coupled receptor 37 like 1	gene	DOID:13938	amenorrhea		ISO	RGD:1606828	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
8729266	Gpr37l1	G protein-coupled receptor 37 like 1	gene	DOID:1909	melanoma		ISO	RGD:1606828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8729280	Tmbim4	transmembrane BAX inhibitor motif containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8729280	Tmbim4	transmembrane BAX inhibitor motif containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8729280	Tmbim4	transmembrane BAX inhibitor motif containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1602117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8729280	Tmbim4	transmembrane BAX inhibitor motif containing 4	gene	DOID:5119	ovarian cyst		ISO	RGD:1602117	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
8729280	Tmbim4	transmembrane BAX inhibitor motif containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729280	Tmbim4	transmembrane BAX inhibitor motif containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8729280	Tmbim4	transmembrane BAX inhibitor motif containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8729280	Tmbim4	transmembrane BAX inhibitor motif containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8729298	Ston2	stonin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8729298	Ston2	stonin 2	gene	DOID:1909	melanoma		ISO	RGD:1604566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8729298	Ston2	stonin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604566	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8729298	Ston2	stonin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729298	Ston2	stonin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8729298	Ston2	stonin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8729298	Ston2	stonin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8729309	Gnmt	glycine N-methyltransferase	gene	DOID:0050544	hypermethioninemia		ISO	RGD:732912	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11596649|PMID:11810299
8729309	Gnmt	glycine N-methyltransferase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:732912	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31086990
8729309	Gnmt	glycine N-methyltransferase	gene	DOID:0111037	glycine N-methyltransferase deficiency		ISO	RGD:732912	D	RGD:7240710	20180214	OMIM			
8729309	Gnmt	glycine N-methyltransferase	gene	DOID:2237	hepatitis		ISO	RGD:732912	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21137059
8729309	Gnmt	glycine N-methyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:10671	D	RGD:9068941	20220825	MouseDO		OMIM:114550	
8729309	Gnmt	glycine N-methyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732912	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19146867|PMID:31086990
8729309	Gnmt	glycine N-methyltransferase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732912	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17332283
8729309	Gnmt	glycine N-methyltransferase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2719	D	RGD:9068941	20260115	RGD		protein:increased expression:liver	PMID:15347642|REF_RGD_ID:1359070
8729309	Gnmt	glycine N-methyltransferase	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:732912	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21137059
8729309	Gnmt	glycine N-methyltransferase	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:732912	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19146867
8729309	Gnmt	glycine N-methyltransferase	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:732912	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16317120
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome 1	PMID:25741868|PMID:28492532|PMID:37293956
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:0110126	Bardet-Biedl syndrome 4		ISO	RGD:1319306	D	RGD:7240710	20180130	OMIM			
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:0110126	Bardet-Biedl syndrome 4		ISO	RGD:1319306	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 4 | ClinVar Annotator: match by term: BBS4-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 4	PMID:11381270|PMID:12016587|PMID:12677556|PMID:12872256|PMID:15666242|PMID:16199547|PMID:17558852|PMID:17576681|PMID:19402160|PMID:19858128|PMID:20177705|PMID:20498079|PMID:23591405|PMID:25741868|PMID:26355662|PMID:26518167|PMID:27208204|PMID:27894351|PMID:28492532|PMID:29039417|PMID:31964843|PMID:31980526|PMID:32531858|PMID:33777945|PMID:35456422|PMID:35886001|PMID:9536098
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:34906470
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:1115	sarcoma		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:28492532
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:11981	morbid obesity	susceptibility	ISO	RGD:1319306	D	RGD:9068941	20200609	RGD		DNA:SNPs	PMID:17003356|REF_RGD_ID:1601311
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:1324	lung cancer		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:1909	melanoma		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1319306	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: ARL6-related disorder | ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:11381270|PMID:12016587|PMID:12524598|PMID:12677556|PMID:12872256|PMID:15654695|PMID:15666242|PMID:15770229|PMID:16199547|PMID:17558852|PMID:17576681|PMID:19402160|PMID:19797195|PMID:19858128|PMID:20177705|PMID:20498079|PMID:21344540|PMID:22219648|PMID:22353939|PMID:23432027|PMID:23591405|PMID:24849935|PMID:25640679|PMID:25741868|PMID:26489029|PMID:27208204|PMID:27486776|PMID:27894351|PMID:28492532|PMID:29039417|PMID:30614526|PMID:30718709|PMID:31964843|PMID:31980526|PMID:32483926|PMID:32531858|PMID:33777945|PMID:34906470|PMID:35318824|PMID:35456422|PMID:35886001|PMID:37293956|PMID:388431|PMID:7711739|PMID:9536098
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1319306	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl Syndrome | ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:11381270|PMID:12016587|PMID:12677556|PMID:12872256|PMID:15666242|PMID:15690372|PMID:15770229|PMID:16199547|PMID:17558852|PMID:17576681|PMID:19797195|PMID:19858128|PMID:20177705|PMID:20498079|PMID:22219648|PMID:22353939|PMID:23432027|PMID:24849935|PMID:25640679|PMID:25741868|PMID:26355662|PMID:26489029|PMID:27486776|PMID:27894351|PMID:28425981|PMID:28492532|PMID:30614526|PMID:30718709|PMID:32483926|PMID:32531858|PMID:35318824|PMID:35886001|PMID:36460718|PMID:37293956|PMID:9536098
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:4362	cervical cancer		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:630	genetic disease		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:8466	retinal degeneration	severity	ISO	RGD:1323204	D	RGD:9068941	20200609	RGD			PMID:23943788|REF_RGD_ID:11537379
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:8501	fundus dystrophy		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11381270|PMID:12016587|PMID:17576681|PMID:20177705|PMID:25741868|PMID:26355662|PMID:27894351|PMID:28492532|PMID:37031301|PMID:9536098
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:9003566	Mesothelioma		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:9351	diabetes mellitus		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:28492532
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:9452	steatotic liver disease		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:28492532
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:9970	obesity		ISO	RGD:1319307	D	RGD:9068941	20220825	MouseDO		OMIM:601665	
8729318	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:9970	obesity	onset	ISO	RGD:1319306	D	RGD:9068941	20200609	RGD		DNA:SNPs	PMID:17003356|REF_RGD_ID:1601311
8729342	Pacrgl	parkin coregulated like	gene	DOID:1909	melanoma		ISO	RGD:1605875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8729342	Pacrgl	parkin coregulated like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8729342	Pacrgl	parkin coregulated like	gene	DOID:3275	thymoma		ISO	RGD:1605875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8729342	Pacrgl	parkin coregulated like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605875	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8729342	Pacrgl	parkin coregulated like	gene	DOID:5041	esophageal cancer		ISO	RGD:1605875	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8729342	Pacrgl	parkin coregulated like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729342	Pacrgl	parkin coregulated like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8729342	Pacrgl	parkin coregulated like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8729342	Pacrgl	parkin coregulated like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868|PMID:28492532
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:0060249	scoliosis		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:0060455	Thiel-Behnke corneal dystrophy		ISO	RGD:1317676	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy	PMID:25741868|PMID:28492532
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:0070423	early onset progressive encephalopathy with brain atrophy and thin corpus callosum		ISO	RGD:1317676	D	RGD:7240710	20190315	OMIM			
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:0070423	early onset progressive encephalopathy with brain atrophy and thin corpus callosum		ISO	RGD:1317676	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM | ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | ClinVar Annotator: match by term: TBCD-related condition	PMID:17576681|PMID:25741868|PMID:27666370|PMID:27666374|PMID:27807845|PMID:28158450|PMID:28492532|PMID:29769041|PMID:30847515|PMID:30919572|PMID:31240573|PMID:31395954|PMID:31625567|PMID:32705489|PMID:34120799|PMID:34943336|PMID:35586607|PMID:36247768|PMID:37644014|PMID:9536098
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1317676	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27666370
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:10534	stomach cancer		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:1059	intellectual disability		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868|PMID:28492532
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:10907	microcephaly		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:30847515|PMID:35586607
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:1115	sarcoma		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:11162	respiratory failure		ISO	RGD:1317676	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27666374
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:11832	visual epilepsy		ISO	RGD:1317676	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:27666370
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:11836	clubfoot		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:11914	gastroparesis		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroparesis	PMID:25741868|PMID:28492532
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:12835	quadriplegia		ISO	RGD:1317676	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27666370
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:12849	autistic disorder		ISO	RGD:1317676	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:27807845|PMID:28158450|PMID:28492532|PMID:29769041|PMID:31625567|PMID:37644014
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1317676	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27666370
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868|PMID:28492532
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:1826	epilepsy		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:1909	melanoma		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:2234	focal epilepsy		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:30847515|PMID:35586607
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:3275	thymoma		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:4362	cervical cancer		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:5041	esophageal cancer		ISO	RGD:1317676	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:540	strabismus		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:5723	optic atrophy		ISO	RGD:1317676	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27666370
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:6039	uveal melanoma		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:630	genetic disease		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27666370|PMID:27666374|PMID:28492532|PMID:30847515|PMID:35586607
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:28492532
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1317676	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27666374
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1317676	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:27807845|PMID:28158450|PMID:28492532|PMID:29769041|PMID:31625567|PMID:37644014
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:25741868
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:9007479	Habitual Abortions		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent spontaneous abortion	PMID:25741868
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:16199547|PMID:27666370|PMID:27666374|PMID:28492532|PMID:34943336
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8729368	Tbcd	tubulin folding cofactor D	gene	DOID:9220	central sleep apnea		ISO	RGD:1317676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central sleep apnea	PMID:25741868|PMID:28492532
8729417	Kiaa0753	KIAA0753 ortholog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8729417	Kiaa0753	KIAA0753 ortholog	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1605106	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:29138412
8729417	Kiaa0753	KIAA0753 ortholog	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1605106	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:29138412
8729417	Kiaa0753	KIAA0753 ortholog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8729417	Kiaa0753	KIAA0753 ortholog	gene	DOID:1115	sarcoma		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8729417	Kiaa0753	KIAA0753 ortholog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8729417	Kiaa0753	KIAA0753 ortholog	gene	DOID:5041	esophageal cancer		ISO	RGD:1605106	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8729417	Kiaa0753	KIAA0753 ortholog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729417	Kiaa0753	KIAA0753 ortholog	gene	DOID:630	genetic disease		ISO	RGD:1605106	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29138412
8729417	Kiaa0753	KIAA0753 ortholog	gene	DOID:9005357	Orofaciodigital Syndrome XV		ISO	RGD:1605106	D	RGD:7240710	20190315	OMIM			
8729417	Kiaa0753	KIAA0753 ortholog	gene	DOID:9005357	Orofaciodigital Syndrome XV		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: OFDS XV | ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XV | ClinVar Annotator: match by term: Orofaciodigital syndrome XV	PMID:25741868|PMID:28492532|PMID:29138412
8729417	Kiaa0753	KIAA0753 ortholog	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8729417	Kiaa0753	KIAA0753 ortholog	gene	DOID:9005615	Joubert Syndrome 38		ISO	RGD:1605106	D	RGD:7240710	20210825	OMIM			
8729417	Kiaa0753	KIAA0753 ortholog	gene	DOID:9005615	Joubert Syndrome 38		ISO	RGD:1605106	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 38	PMID:17576681|PMID:25741868|PMID:26643951|PMID:28492532|PMID:29138412|PMID:34523780|PMID:9536098
8729417	Kiaa0753	KIAA0753 ortholog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8729417	Kiaa0753	KIAA0753 ortholog	gene	DOID:9008070	Short-Rib Thoracic Dysplasia 21 without Polydactyly		ISO	RGD:1605106	D	RGD:7240710	20210825	OMIM			
8729417	Kiaa0753	KIAA0753 ortholog	gene	DOID:9008070	Short-Rib Thoracic Dysplasia 21 without Polydactyly		ISO	RGD:1605106	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short-rib thoracic dysplasia 21 without polydactyly	PMID:25741868|PMID:28492532|PMID:29138412|PMID:34523780
8729417	Kiaa0753	KIAA0753 ortholog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8729440	Ppm1h	protein phosphatase, Mg2+/Mn2+ dependent 1H	gene	DOID:10534	stomach cancer		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8729440	Ppm1h	protein phosphatase, Mg2+/Mn2+ dependent 1H	gene	DOID:1324	lung cancer		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8729440	Ppm1h	protein phosphatase, Mg2+/Mn2+ dependent 1H	gene	DOID:1909	melanoma		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8729440	Ppm1h	protein phosphatase, Mg2+/Mn2+ dependent 1H	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8729440	Ppm1h	protein phosphatase, Mg2+/Mn2+ dependent 1H	gene	DOID:3070	high grade glioma		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8729440	Ppm1h	protein phosphatase, Mg2+/Mn2+ dependent 1H	gene	DOID:4362	cervical cancer		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8729440	Ppm1h	protein phosphatase, Mg2+/Mn2+ dependent 1H	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8729440	Ppm1h	protein phosphatase, Mg2+/Mn2+ dependent 1H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729440	Ppm1h	protein phosphatase, Mg2+/Mn2+ dependent 1H	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8729454	Guca2b	guanylate cyclase activator 2B	gene	DOID:1184	nephrotic syndrome		ISO	RGD:736719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15780094
8729454	Guca2b	guanylate cyclase activator 2B	gene	DOID:783	end stage renal disease		ISO	RGD:736719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15780094
8729475	Prr15l	proline rich 15 like	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1601848	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
8729475	Prr15l	proline rich 15 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729488	Psd2	pleckstrin and Sec7 domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8729488	Psd2	pleckstrin and Sec7 domain containing 2	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1322340	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
8729488	Psd2	pleckstrin and Sec7 domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8729488	Psd2	pleckstrin and Sec7 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729488	Psd2	pleckstrin and Sec7 domain containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8729488	Psd2	pleckstrin and Sec7 domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8729523	Slc12a9	solute carrier family 12 member 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8729523	Slc12a9	solute carrier family 12 member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8729523	Slc12a9	solute carrier family 12 member 9	gene	DOID:10534	stomach cancer		ISO	RGD:1347947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8729523	Slc12a9	solute carrier family 12 member 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8729523	Slc12a9	solute carrier family 12 member 9	gene	DOID:1115	sarcoma		ISO	RGD:1347947	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8729523	Slc12a9	solute carrier family 12 member 9	gene	DOID:1324	lung cancer		ISO	RGD:1347947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8729523	Slc12a9	solute carrier family 12 member 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8729523	Slc12a9	solute carrier family 12 member 9	gene	DOID:3070	high grade glioma		ISO	RGD:1347947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8729523	Slc12a9	solute carrier family 12 member 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8729523	Slc12a9	solute carrier family 12 member 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8729523	Slc12a9	solute carrier family 12 member 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347947	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8729523	Slc12a9	solute carrier family 12 member 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1347947	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8729523	Slc12a9	solute carrier family 12 member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729523	Slc12a9	solute carrier family 12 member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8729523	Slc12a9	solute carrier family 12 member 9	gene	DOID:9003566	Mesothelioma		ISO	RGD:1347947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8729523	Slc12a9	solute carrier family 12 member 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8729523	Slc12a9	solute carrier family 12 member 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8729523	Slc12a9	solute carrier family 12 member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8729546	Kpna2	karyopherin subunit alpha 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8729546	Kpna2	karyopherin subunit alpha 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8729546	Kpna2	karyopherin subunit alpha 2	gene	DOID:10534	stomach cancer		ISO	RGD:1344039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8729546	Kpna2	karyopherin subunit alpha 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8729546	Kpna2	karyopherin subunit alpha 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8729546	Kpna2	karyopherin subunit alpha 2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1344039	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8729546	Kpna2	karyopherin subunit alpha 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8729546	Kpna2	karyopherin subunit alpha 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1344039	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8729546	Kpna2	karyopherin subunit alpha 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729546	Kpna2	karyopherin subunit alpha 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1344039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8729546	Kpna2	karyopherin subunit alpha 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1344039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8729546	Kpna2	karyopherin subunit alpha 2	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1344039	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8729546	Kpna2	karyopherin subunit alpha 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8729561	Mcmbp	minichromosome maintenance complex binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8729561	Mcmbp	minichromosome maintenance complex binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8729561	Mcmbp	minichromosome maintenance complex binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8729561	Mcmbp	minichromosome maintenance complex binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8729561	Mcmbp	minichromosome maintenance complex binding protein	gene	DOID:1909	melanoma		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8729561	Mcmbp	minichromosome maintenance complex binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8729561	Mcmbp	minichromosome maintenance complex binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8729561	Mcmbp	minichromosome maintenance complex binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1315515	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8729561	Mcmbp	minichromosome maintenance complex binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729561	Mcmbp	minichromosome maintenance complex binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8729561	Mcmbp	minichromosome maintenance complex binding protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8729590	Kcnj9	potassium inwardly rectifying channel subfamily J member 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1343442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8729622	Msh3	mutS homolog 3	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:1353031	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8729622	Msh3	mutS homolog 3	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1353031	D	RGD:9068941	20200609	RGD			PMID:9401011|REF_RGD_ID:1625103
8729622	Msh3	mutS homolog 3	gene	DOID:0080412	familial adenomatous polyposis 4		ISO	RGD:1353031	D	RGD:7240710	20190315	OMIM			
8729622	Msh3	mutS homolog 3	gene	DOID:0080412	familial adenomatous polyposis 4		ISO	RGD:1353031	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FAMILIAL ADENOMATOUS POLYPOSIS 4 | ClinVar Annotator: match by term: Familial adenomatous polyposis 4 | ClinVar Annotator: match by term: MSH3-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: familial adenomatous polyposis 4	PMID:11470537|PMID:16199547|PMID:17576681|PMID:20981092|PMID:23960188|PMID:25741868|PMID:26467025|PMID:27476653|PMID:28211887|PMID:28492532|PMID:28944238|PMID:29641532|PMID:30358836|PMID:31127692|PMID:31589614|PMID:32634176|PMID:33606809|PMID:34843512|PMID:35101336|PMID:37402566|PMID:38127826|PMID:38136308|PMID:38243056|PMID:38254797|PMID:40223084|PMID:9536098
8729622	Msh3	mutS homolog 3	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:1353031	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27-altered	PMID:25741868|PMID:28492532
8729622	Msh3	mutS homolog 3	gene	DOID:10534	stomach cancer		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8729622	Msh3	mutS homolog 3	gene	DOID:1115	sarcoma		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8729622	Msh3	mutS homolog 3	gene	DOID:11830	myopia		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:26467025|PMID:28492532
8729622	Msh3	mutS homolog 3	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532|PMID:28944238
8729622	Msh3	mutS homolog 3	gene	DOID:1324	lung cancer		ISO	RGD:1353031	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Lung cancer, somatic	PMID:28492532
8729622	Msh3	mutS homolog 3	gene	DOID:1380	endometrial cancer		ISO	RGD:1353031	D	RGD:7240710	20190213	OMIM			
8729622	Msh3	mutS homolog 3	gene	DOID:1380	endometrial cancer		ISO	RGD:1353031	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MSH3-related condition	PMID:11470537|PMID:20981092|PMID:21153778|PMID:25741868|PMID:26467025|PMID:27476653|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:31127692|PMID:31243857|PMID:32634176|PMID:33606809|PMID:34250384|PMID:34308104|PMID:34994648|PMID:35101336|PMID:37095444|PMID:37402566
8729622	Msh3	mutS homolog 3	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1353031	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25741868|PMID:27476653|PMID:28492532|PMID:35101336|PMID:37402566
8729622	Msh3	mutS homolog 3	gene	DOID:1596	depressive disorder		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:26467025|PMID:28492532|PMID:28944238
8729622	Msh3	mutS homolog 3	gene	DOID:2030	anxiety disorder		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:26467025|PMID:28492532|PMID:28944238
8729622	Msh3	mutS homolog 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8729622	Msh3	mutS homolog 3	gene	DOID:2841	asthma		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532|PMID:28944238
8729622	Msh3	mutS homolog 3	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1353031	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:11470537|PMID:16199547|PMID:20981092|PMID:25741868|PMID:26467025|PMID:27476653|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:30358836|PMID:31127692|PMID:31589614|PMID:32634176|PMID:33606809|PMID:34843512|PMID:35101336|PMID:37402566|PMID:38127826|PMID:38136308|PMID:38243056|PMID:38254797|PMID:40223084
8729622	Msh3	mutS homolog 3	gene	DOID:3275	thymoma		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8729622	Msh3	mutS homolog 3	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1353031	D	RGD:9068941	20210430	RGD		DNA:SNPs: :rs6151627, rs6151670, rs7709909 (human)	PMID:28093084|REF_RGD_ID:126848786
8729622	Msh3	mutS homolog 3	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1353031	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21327329
8729622	Msh3	mutS homolog 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8729622	Msh3	mutS homolog 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1353031	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8729622	Msh3	mutS homolog 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8729622	Msh3	mutS homolog 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729622	Msh3	mutS homolog 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8729622	Msh3	mutS homolog 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353031	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer	PMID:28492532
8729622	Msh3	mutS homolog 3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:25741868|PMID:28492532
8729622	Msh3	mutS homolog 3	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:1353031	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25701956
8729622	Msh3	mutS homolog 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1353031	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18355840
8729622	Msh3	mutS homolog 3	gene	DOID:9003507	Premature Birth		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532|PMID:28944238
8729622	Msh3	mutS homolog 3	gene	DOID:9004351	Digestive System Neoplasms		ISO	RGD:1353031	D	RGD:9068941	20200609	RGD			PMID:9401011|REF_RGD_ID:1625103
8729622	Msh3	mutS homolog 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8729622	Msh3	mutS homolog 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8729622	Msh3	mutS homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353031	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11470537|PMID:16199547|PMID:17576681|PMID:20154325|PMID:20160730|PMID:20421420|PMID:20981092|PMID:21128252|PMID:22179786|PMID:23960188|PMID:24033266|PMID:25142776|PMID:25741868|PMID:2635641|PMID:26467025|PMID:26485759|PMID:26837502|PMID:26904404|PMID:27300758|PMID:27476653|PMID:27696107|PMID:28211887|PMID:28492532|PMID:28528517|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29641532|PMID:29868112|PMID:30573798|PMID:30740464|PMID:31054147|PMID:31160353|PMID:31243857|PMID:31371350|PMID:31589614|PMID:31627758|PMID:32619037|PMID:32634176|PMID:32635641|PMID:32973888|PMID:33007869|PMID:33193653|PMID:33332384|PMID:33606809|PMID:34250384|PMID:34308366|PMID:34404389|PMID:34608827|PMID:34767783|PMID:8782829|PMID:8838312|PMID:9536098
8729622	Msh3	mutS homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353031	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11470537|PMID:16199547|PMID:17576681|PMID:20154325|PMID:20160730|PMID:20421420|PMID:20981092|PMID:21128252|PMID:21153778|PMID:22179786|PMID:23960188|PMID:24033266|PMID:25142776|PMID:25741868|PMID:2635641|PMID:26467025|PMID:26485759|PMID:26837502|PMID:26904404|PMID:27300758|PMID:27476653|PMID:27696107|PMID:28157215|PMID:28211887|PMID:28492532|PMID:28528517|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29641532|PMID:29868112|PMID:30358836|PMID:30573798|PMID:30719162|PMID:30740464|PMID:31054147|PMID:31127692|PMID:31160353|PMID:31243857|PMID:31371350|PMID:31589614|PMID:31627758|PMID:31911633|PMID:32008151|PMID:32091409|PMID:32365829|PMID:32619037|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32973888|PMID:33007869|PMID:33193653|PMID:33332384|PMID:33606809|PMID:34250384|PMID:34308366|PMID:34404389|PMID:34608827|PMID:34767783|PMID:34994648|PMID:36419139|PMID:36652909|PMID:37402566|PMID:8782829|PMID:8838312|PMID:9536098
8729622	Msh3	mutS homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353031	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11470537|PMID:16199547|PMID:17576681|PMID:20154325|PMID:20160730|PMID:20421420|PMID:20981092|PMID:21128252|PMID:21153778|PMID:22179786|PMID:23960188|PMID:24033266|PMID:25142776|PMID:25741868|PMID:25741909|PMID:2635641|PMID:26467025|PMID:26485759|PMID:26837502|PMID:26904404|PMID:27300758|PMID:27476653|PMID:27696107|PMID:28157215|PMID:28211887|PMID:28492532|PMID:28528517|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29641532|PMID:29868112|PMID:30358836|PMID:30573798|PMID:30719162|PMID:30740464|PMID:31054147|PMID:31127692|PMID:31160353|PMID:31243857|PMID:31371350|PMID:31589614|PMID:31627758|PMID:31911633|PMID:32008151|PMID:32091409|PMID:32365829|PMID:32619037|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32973888|PMID:33007869|PMID:33193653|PMID:33332384|PMID:33606809|PMID:34250384|PMID:34308366|PMID:34404389|PMID:34608827|PMID:34767783|PMID:34994648|PMID:36419139|PMID:36652909|PMID:37402566|PMID:8782829|PMID:8838312|PMID:9536098
8729622	Msh3	mutS homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353031	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11470537|PMID:16199547|PMID:17576681|PMID:20154325|PMID:20160730|PMID:20421420|PMID:20981092|PMID:21128252|PMID:21153778|PMID:22179786|PMID:23960188|PMID:24033266|PMID:25142776|PMID:25741868|PMID:2635641|PMID:26467025|PMID:26485759|PMID:26837502|PMID:26904404|PMID:27300758|PMID:27476653|PMID:27696107|PMID:28157215|PMID:28211887|PMID:28492532|PMID:28528517|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29641532|PMID:29868112|PMID:30358836|PMID:30573798|PMID:30719162|PMID:30740464|PMID:31054147|PMID:31127692|PMID:31160353|PMID:31243857|PMID:31371350|PMID:31589614|PMID:31627758|PMID:31911633|PMID:32008151|PMID:32091409|PMID:32365829|PMID:32619037|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32973888|PMID:33007869|PMID:33193653|PMID:33332384|PMID:33606809|PMID:34250384|PMID:34308366|PMID:34404389|PMID:34608827|PMID:34767783|PMID:34994648|PMID:36419139|PMID:36652909|PMID:37402566|PMID:38136308|PMID:8782829|PMID:8838312|PMID:9536098
8729622	Msh3	mutS homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353031	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11470537|PMID:16199547|PMID:17576681|PMID:20160730|PMID:20421420|PMID:20981092|PMID:21128252|PMID:21153778|PMID:21270786|PMID:22179786|PMID:23960188|PMID:24448499|PMID:25142776|PMID:25741868|PMID:2635641|PMID:26467025|PMID:26485759|PMID:26837502|PMID:27476653|PMID:27696107|PMID:27981572|PMID:28157215|PMID:28211887|PMID:28404951|PMID:28492532|PMID:28528517|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29641532|PMID:29868112|PMID:30358836|PMID:30573798|PMID:30719162|PMID:30740464|PMID:30833958|PMID:31054147|PMID:31127692|PMID:31160353|PMID:31243857|PMID:31589614|PMID:31874108|PMID:31911633|PMID:32008151|PMID:32091409|PMID:32365829|PMID:32461694|PMID:32619037|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32636238|PMID:32973888|PMID:33007869|PMID:33193653|PMID:33436027|PMID:33466343|PMID:33606809|PMID:34250384|PMID:34308366|PMID:34326862|PMID:34404389|PMID:34608827|PMID:34767783|PMID:34843512|PMID:34994648|PMID:36419139|PMID:36563937|PMID:37095444|PMID:37402566|PMID:37453563|PMID:37762649|PMID:37895483|PMID:38127826|PMID:38136308|PMID:38254797|PMID:38751533|PMID:38770632|PMID:8782829|PMID:9536098
8729622	Msh3	mutS homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353031	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11470537|PMID:16199547|PMID:17576681|PMID:20160730|PMID:20421420|PMID:20981092|PMID:21128252|PMID:21153778|PMID:21270786|PMID:22179786|PMID:23960188|PMID:24448499|PMID:25142776|PMID:25741868|PMID:2635641|PMID:26467025|PMID:26485759|PMID:26837502|PMID:27300758|PMID:27476653|PMID:27696107|PMID:27981572|PMID:28157215|PMID:28211887|PMID:28404951|PMID:28492532|PMID:28528517|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29641532|PMID:29868112|PMID:30358836|PMID:30573798|PMID:30719162|PMID:30740464|PMID:30833958|PMID:31054147|PMID:31127692|PMID:31160353|PMID:31243857|PMID:31589614|PMID:31874108|PMID:31911633|PMID:32008151|PMID:32091409|PMID:32365829|PMID:32461694|PMID:32619037|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32636238|PMID:32973888|PMID:33007869|PMID:33193653|PMID:33436027|PMID:33466343|PMID:33606809|PMID:34250384|PMID:34308366|PMID:34326862|PMID:34404389|PMID:34608827|PMID:34767783|PMID:34843512|PMID:34994648|PMID:36419139|PMID:36563937|PMID:37095444|PMID:37402566|PMID:37453563|PMID:37762649|PMID:37895483|PMID:38127826|PMID:38136308|PMID:38254797|PMID:38751533|PMID:38770632|PMID:8782829|PMID:8838312|PMID:9536098
8729622	Msh3	mutS homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353031	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11470537|PMID:16199547|PMID:17576681|PMID:20981092|PMID:22179786|PMID:23960188|PMID:25741868|PMID:26467025|PMID:27476653|PMID:28211887|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29641532|PMID:30358836|PMID:30573798|PMID:31127692|PMID:31589614|PMID:32634176|PMID:33606809|PMID:34767783|PMID:34843512|PMID:35101336|PMID:37402566|PMID:38127826|PMID:38136308|PMID:38243056|PMID:38254797|PMID:40223084|PMID:9536098
8729622	Msh3	mutS homolog 3	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1353031	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8729622	Msh3	mutS homolog 3	gene	DOID:9008023	Memory Disorders		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532|PMID:28944238
8729622	Msh3	mutS homolog 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1351420	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:10425035|PMID:10798644|PMID:11923233|PMID:22850414|PMID:23559853|PMID:25741868|PMID:26197481|PMID:28492532|PMID:30830990|PMID:34097874|PMID:9054935
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:0060441	epithelial-stromal TGFBI dystrophy		ISO	RGD:1351420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epithelial-stromal TGFBI dystrophy | ClinVar Annotator: match by term: TGFBI-related condition	PMID:25741868|PMID:28492532
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:0060444	granular corneal dystrophy 2		ISO	RGD:1351420	D	RGD:7240710	20180130	OMIM			
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:0060444	granular corneal dystrophy 2		ISO	RGD:1351420	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Avellino corneal dystrophy | ClinVar Annotator: match by term: Granular corneal dystrophy type 2	PMID:10425035|PMID:10798644|PMID:11923233|PMID:1264234|PMID:16652336|PMID:19337156|PMID:21135107|PMID:21264234|PMID:22355247|PMID:22850414|PMID:23559853|PMID:25525159|PMID:25741868|PMID:26197481|PMID:28492532|PMID:30830990|PMID:34097874|PMID:9054935
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:0060447	epithelial basement membrane dystrophy		ISO	RGD:1351420	D	RGD:7240710	20180130	OMIM			
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:0060447	epithelial basement membrane dystrophy		ISO	RGD:1351420	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Corneal dystrophy, anterior basement membrane | ClinVar Annotator: match by term: Epithelial basement membrane dystrophy	PMID:11923233|PMID:1264234|PMID:16652336|PMID:19337156|PMID:21135107|PMID:21264234|PMID:22355247|PMID:23559853|PMID:25525159|PMID:25741868|PMID:28492532|PMID:9054935
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:0060453	Reis-Bucklers corneal dystrophy		ISO	RGD:1351420	D	RGD:7240710	20180130	OMIM			
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:0060453	Reis-Bucklers corneal dystrophy		ISO	RGD:1351420	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE | ClinVar Annotator: match by term: GRANULAR CORNEAL DYSTROPHY, TYPE III	PMID:10798644|PMID:11923233|PMID:1264234|PMID:16652336|PMID:19337156|PMID:21135107|PMID:21264234|PMID:22355247|PMID:23559853|PMID:25525159|PMID:25741868|PMID:28492532|PMID:9054935|PMID:9780098
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:0060455	Thiel-Behnke corneal dystrophy		ISO	RGD:1351420	D	RGD:7240710	20180130	OMIM			
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:0060455	Thiel-Behnke corneal dystrophy		ISO	RGD:1351420	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Corneal dystrophy of the Bowman layer type 2 | ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy	PMID:11923233|PMID:1264234|PMID:16652336|PMID:19337156|PMID:21135107|PMID:21264234|PMID:22355247|PMID:23559853|PMID:25525159|PMID:25741868|PMID:28492532|PMID:9054935
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:0080530	granular corneal dystrophy 1		ISO	RGD:1351420	D	RGD:7240710	20180130	OMIM			
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:0080530	granular corneal dystrophy 1		ISO	RGD:1351420	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CORNEAL DYSTROPHY, GROENOUW TYPE I | ClinVar Annotator: match by term: GRANULAR CORNEAL DYSTROPHY, TYPE I | ClinVar Annotator: match by term: Groenouw corneal dystrophy type I	PMID:11024425|PMID:11923233|PMID:1264234|PMID:16652336|PMID:19337156|PMID:21135107|PMID:21264234|PMID:22355247|PMID:23559853|PMID:25525159|PMID:25741868|PMID:28492532|PMID:9054935
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:10376	amblyopia		ISO	RGD:1351420	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:10425035|PMID:10798644|PMID:11923233|PMID:22850414|PMID:23559853|PMID:25741868|PMID:26197481|PMID:28492532|PMID:30830990|PMID:34097874|PMID:9054935
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:10534	stomach cancer		ISO	RGD:1351420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:1059	intellectual disability		ISO	RGD:1351420	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:10425035|PMID:10798644|PMID:11923233|PMID:1264234|PMID:21135107|PMID:21264234|PMID:22355247|PMID:22850414|PMID:23559853|PMID:25741868|PMID:26197481|PMID:28492532|PMID:30830990|PMID:34097874|PMID:9054935
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:1115	sarcoma		ISO	RGD:1351420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:11782	astigmatism		ISO	RGD:1351420	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:10425035|PMID:10798644|PMID:11923233|PMID:22850414|PMID:23559853|PMID:25741868|PMID:26197481|PMID:28492532|PMID:30830990|PMID:34097874|PMID:9054935
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:12318	granular corneal dystrophy		ISO	RGD:1351420	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Granular corneal dystrophy	PMID:10425035|PMID:10798644|PMID:11923233|PMID:22850414|PMID:23559853|PMID:25741868|PMID:26197481|PMID:28492532|PMID:30830990|PMID:34097874|PMID:9054935
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:1657	ventricular septal defect		ISO	RGD:1351420	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:11923233|PMID:1264234|PMID:21135107|PMID:21264234|PMID:22355247|PMID:23559853|PMID:25741868|PMID:28492532|PMID:9054935
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:1826	epilepsy		ISO	RGD:1351420	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10425035|PMID:10798644|PMID:11923233|PMID:22850414|PMID:23559853|PMID:25741868|PMID:26197481|PMID:28492532|PMID:30830990|PMID:34097874|PMID:9054935
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:2566	corneal dystrophy		ISO	RGD:1351420	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Corneal dystrophy	PMID:10425035|PMID:10798644|PMID:10832717|PMID:11004271|PMID:11024425|PMID:11923233|PMID:12400061|PMID:1264234|PMID:15177960|PMID:16652336|PMID:16809844|PMID:19337156|PMID:21135107|PMID:21264234|PMID:21462384|PMID:22355247|PMID:22850414|PMID:23559853|PMID:23884333|PMID:25525159|PMID:25741868|PMID:26197481|PMID:26748743|PMID:26961680|PMID:28492532|PMID:30830990|PMID:34097874|PMID:9054935|PMID:9497262
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:4362	cervical cancer		ISO	RGD:1351420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:557	kidney disease		ISO	RGD:620017	D	RGD:9068941	20200609	RGD		chronic cyclosporin A-induced nephropathy	PMID:16308546|REF_RGD_ID:1599389
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:630	genetic disease		ISO	RGD:1351420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10328397|PMID:11923233|PMID:12770961|PMID:20664689|PMID:24831201|PMID:28381645|PMID:28492532
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1351420	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:11923233|PMID:1264234|PMID:21135107|PMID:21264234|PMID:22355247|PMID:23559853|PMID:25741868|PMID:28492532|PMID:9054935
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:83	cataract		ISO	RGD:1351420	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:11923233|PMID:1264234|PMID:21135107|PMID:21264234|PMID:22355247|PMID:23559853|PMID:25741868|PMID:28492532|PMID:9054935
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1351420	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18682491
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:620017	D	RGD:9068941	20200609	RGD			PMID:12911551|REF_RGD_ID:1304421
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:9002189	High Myopia		ISO	RGD:1351420	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:10425035|PMID:10798644|PMID:11923233|PMID:22850414|PMID:23559853|PMID:25741868|PMID:26197481|PMID:28492532|PMID:30830990|PMID:34097874|PMID:9054935
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1351420	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:10425035|PMID:10798644|PMID:11923233|PMID:22850414|PMID:23559853|PMID:25741868|PMID:26197481|PMID:28492532|PMID:30830990|PMID:34097874|PMID:9054935
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1351420	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:9004303	Tubulointerstitial Fibrosis		ISO	RGD:620017	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney	PMID:15007308|REF_RGD_ID:1304308
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:9004484	Sepsis		ISO	RGD:1351420	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27887929
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:9005077	Joint Instability		ISO	RGD:1351420	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:11923233|PMID:1264234|PMID:21135107|PMID:21264234|PMID:22355247|PMID:23559853|PMID:25741868|PMID:28492532|PMID:9054935
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:9006242	Lattice Corneal Dystrophy, Type IIIA		ISO	RGD:1351420	D	RGD:7240710	20180130	OMIM			
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:9006242	Lattice Corneal Dystrophy, Type IIIA		ISO	RGD:1351420	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CORNEAL DYSTROPHY, LATTICE TYPE IIIA | ClinVar Annotator: match by term: Corneal dystrophy, lattice type 3A	PMID:11024425|PMID:11923233|PMID:1264234|PMID:16652336|PMID:19337156|PMID:21135107|PMID:21264234|PMID:22355247|PMID:23559853|PMID:25525159|PMID:25741868|PMID:28492532|PMID:9054935
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1351420	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:9007661	Dwarfism		ISO	RGD:1351420	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:11923233|PMID:1264234|PMID:21135107|PMID:21264234|PMID:22355247|PMID:23559853|PMID:25741868|PMID:28492532|PMID:9054935
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1351420	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:10425035|PMID:10798644|PMID:11923233|PMID:22850414|PMID:23559853|PMID:25741868|PMID:26197481|PMID:28492532|PMID:30830990|PMID:34097874|PMID:9054935
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:9008869	Lattice Corneal Dystrophy Type 1		ISO	RGD:1351420	D	RGD:7240710	20180130	OMIM			
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:9008869	Lattice Corneal Dystrophy Type 1		ISO	RGD:1351420	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lattice corneal dystrophy Type I	PMID:11923233|PMID:1264234|PMID:16652336|PMID:19337156|PMID:21135107|PMID:21264234|PMID:21948648|PMID:22355247|PMID:23559853|PMID:25525159|PMID:25741868|PMID:28492532|PMID:9054935
8729650	Tgfbi	transforming growth factor beta induced	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8729671	Eif2b1	eukaryotic translation initiation factor 2B subunit alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8729671	Eif2b1	eukaryotic translation initiation factor 2B subunit alpha	gene	DOID:0060868	leukoencephalopathy with vanishing white matter		ISO	RGD:733321	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	
8729671	Eif2b1	eukaryotic translation initiation factor 2B subunit alpha	gene	DOID:0070374	leukoencephalopathy with vanishing white matter 1		ISO	RGD:733321	D	RGD:7240710	20230505	OMIM			
8729671	Eif2b1	eukaryotic translation initiation factor 2B subunit alpha	gene	DOID:0070374	leukoencephalopathy with vanishing white matter 1		ISO	RGD:733321	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EIF2B1-related condition | ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1	PMID:11835386|PMID:16199547|PMID:18263758|PMID:25741868|PMID:26285592|PMID:28492532|PMID:31882561|PMID:32865661|PMID:33334879|PMID:34663487
8729671	Eif2b1	eukaryotic translation initiation factor 2B subunit alpha	gene	DOID:10534	stomach cancer		ISO	RGD:733321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8729671	Eif2b1	eukaryotic translation initiation factor 2B subunit alpha	gene	DOID:10579	leukodystrophy		ISO	RGD:733321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868|PMID:28492532
8729671	Eif2b1	eukaryotic translation initiation factor 2B subunit alpha	gene	DOID:10907	microcephaly		ISO	RGD:733321	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8729671	Eif2b1	eukaryotic translation initiation factor 2B subunit alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8729671	Eif2b1	eukaryotic translation initiation factor 2B subunit alpha	gene	DOID:11832	visual epilepsy		ISO	RGD:733321	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Focal seizures	
8729671	Eif2b1	eukaryotic translation initiation factor 2B subunit alpha	gene	DOID:1826	epilepsy		ISO	RGD:733321	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Epilepsy	
8729671	Eif2b1	eukaryotic translation initiation factor 2B subunit alpha	gene	DOID:1826	epilepsy		ISO	RGD:733321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8729671	Eif2b1	eukaryotic translation initiation factor 2B subunit alpha	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:733321	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8729671	Eif2b1	eukaryotic translation initiation factor 2B subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:733321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8729671	Eif2b1	eukaryotic translation initiation factor 2B subunit alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8729671	Eif2b1	eukaryotic translation initiation factor 2B subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729671	Eif2b1	eukaryotic translation initiation factor 2B subunit alpha	gene	DOID:630	genetic disease		ISO	RGD:733321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8729671	Eif2b1	eukaryotic translation initiation factor 2B subunit alpha	gene	DOID:9006205	Animal Disease Models		ISO	RGD:733321	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8729671	Eif2b1	eukaryotic translation initiation factor 2B subunit alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8729671	Eif2b1	eukaryotic translation initiation factor 2B subunit alpha	gene	DOID:9268	glycine encephalopathy		ISO	RGD:733321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glycine encephalopathy	PMID:25741868|PMID:28492532
8729687	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1316927	D	RGD:9068941	20220513	RGD		DNA:SNP:3'utr: (rs3803098) A>G (human)	PMID:27354594|REF_RGD_ID:152177496
8729687	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:0080918	polymicrogyria		ISO	RGD:1316927	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	
8729687	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:10534	stomach cancer		ISO	RGD:1316927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8729687	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:10907	microcephaly		ISO	RGD:1316927	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	
8729687	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8729687	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:1115	sarcoma		ISO	RGD:1316927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8729687	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:1324	lung cancer		ISO	RGD:1316927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8729687	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:1826	epilepsy		ISO	RGD:1316927	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	
8729687	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8729687	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1316927	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	
8729687	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316927	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8729687	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8729703	Fignl2	fidgetin like 2	gene	DOID:1115	sarcoma		ISO	RGD:1603328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8729703	Fignl2	fidgetin like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729710	Fgf19	fibroblast growth factor 19	gene	DOID:0060180	colitis		ISO	RGD:1550725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27580383
8729710	Fgf19	fibroblast growth factor 19	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:620166	D	RGD:9068941	20200609	RGD			PMID:27939985|REF_RGD_ID:15036816
8729710	Fgf19	fibroblast growth factor 19	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8729710	Fgf19	fibroblast growth factor 19	gene	DOID:5082	liver cirrhosis		ISO	RGD:1550725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28673684
8729710	Fgf19	fibroblast growth factor 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344909	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25822088
8729710	Fgf19	fibroblast growth factor 19	gene	DOID:9004250	Hepatic Insufficiency		ISO	RGD:1550725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28673684
8729710	Fgf19	fibroblast growth factor 19	gene	DOID:9005749	Necrosis		ISO	RGD:1550725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24699334
8729710	Fgf19	fibroblast growth factor 19	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1550725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28673684
8729710	Fgf19	fibroblast growth factor 19	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1550725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28673684
8729716	Cdh8	cadherin 8	gene	DOID:10534	stomach cancer		ISO	RGD:735375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8729716	Cdh8	cadherin 8	gene	DOID:1826	epilepsy		ISO	RGD:735375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8729716	Cdh8	cadherin 8	gene	DOID:1909	melanoma		ISO	RGD:735375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8729716	Cdh8	cadherin 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8729716	Cdh8	cadherin 8	gene	DOID:4362	cervical cancer		ISO	RGD:735375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8729716	Cdh8	cadherin 8	gene	DOID:4724	brain edema		ISO	RGD:735375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral edema	PMID:25741868
8729716	Cdh8	cadherin 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8729739	Reep1	receptor accessory protein 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1313134	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
8729739	Reep1	receptor accessory protein 1	gene	DOID:0081425	autosomal recessive distal hereditary motor neuronopathy 6		ISO	RGD:1313134	D	RGD:7240710	20220921	OMIM			
8729739	Reep1	receptor accessory protein 1	gene	DOID:0081425	autosomal recessive distal hereditary motor neuronopathy 6		ISO	RGD:1313134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6	PMID:25741868
8729739	Reep1	receptor accessory protein 1	gene	DOID:0110782	hereditary spastic paraplegia 31		ISO	RGD:1313134	D	RGD:7240710	20180130	OMIM			
8729739	Reep1	receptor accessory protein 1	gene	DOID:0110782	hereditary spastic paraplegia 31		ISO	RGD:1313134	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 31, autosomal dominant	PMID:16199547|PMID:16826527|PMID:17576681|PMID:18321925|PMID:18644145|PMID:19034539|PMID:19072839|PMID:20718791|PMID:21618648|PMID:22062632|PMID:22703882|PMID:23812641|PMID:24098485|PMID:24451228|PMID:24478229|PMID:24986827|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26201691|PMID:26374131|PMID:26392352|PMID:26467025|PMID:26671083|PMID:27260292|PMID:28362824|PMID:28492532|PMID:29124833|PMID:30373780|PMID:30637453|PMID:32655478|PMID:34782662|PMID:34983064|PMID:9536098
8729739	Reep1	receptor accessory protein 1	gene	DOID:0111203	autosomal dominant distal hereditary motor neuronopathy 5		ISO	RGD:1313134	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8729739	Reep1	receptor accessory protein 1	gene	DOID:0111205	autosomal dominant distal hereditary motor neuronopathy 12		ISO	RGD:1313134	D	RGD:7240710	20180130	OMIM			
8729739	Reep1	receptor accessory protein 1	gene	DOID:0111205	autosomal dominant distal hereditary motor neuronopathy 12		ISO	RGD:1313134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE VB	PMID:16826527|PMID:18321925|PMID:19034539|PMID:20718791|PMID:22703882|PMID:25741868|PMID:26467025|PMID:28492532
8729739	Reep1	receptor accessory protein 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1313134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:24604904|PMID:25025039|PMID:25741868|PMID:28492532
8729739	Reep1	receptor accessory protein 1	gene	DOID:1389	polyneuropathy		ISO	RGD:1313134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868
8729739	Reep1	receptor accessory protein 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1313134	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia	PMID:16199547|PMID:16826527|PMID:18321925|PMID:18644145|PMID:19034539|PMID:19072839|PMID:20718791|PMID:22703882|PMID:23400676|PMID:23812641|PMID:24098485|PMID:24478229|PMID:25525159|PMID:25741868|PMID:26201691|PMID:26467025|PMID:28492532|PMID:28832565|PMID:29629531|PMID:30637453|PMID:32581362
8729739	Reep1	receptor accessory protein 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1313134	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:16826527|PMID:18321925|PMID:19034539|PMID:20718791|PMID:22703882|PMID:23812641|PMID:24478229|PMID:25741868|PMID:26201691|PMID:26467025|PMID:28492532|PMID:28832565
8729739	Reep1	receptor accessory protein 1	gene	DOID:3275	thymoma		ISO	RGD:1313134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8729739	Reep1	receptor accessory protein 1	gene	DOID:607	paraplegia		ISO	RGD:1313134	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:25741868|PMID:28492532|PMID:34983064
8729739	Reep1	receptor accessory protein 1	gene	DOID:630	genetic disease		ISO	RGD:1313134	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16826527|PMID:18321925|PMID:19034539|PMID:20718791|PMID:24051375|PMID:25741868|PMID:26392352|PMID:28492532
8729739	Reep1	receptor accessory protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8729739	Reep1	receptor accessory protein 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:28492532
8729739	Reep1	receptor accessory protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8729739	Reep1	receptor accessory protein 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1313134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25025039|PMID:25741868
8729739	Reep1	receptor accessory protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8729767	Cenpx	centromere protein X	gene	DOID:1115	sarcoma		ISO	RGD:1349037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8729767	Cenpx	centromere protein X	gene	DOID:1909	melanoma		ISO	RGD:1349037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8729767	Cenpx	centromere protein X	gene	DOID:4362	cervical cancer		ISO	RGD:1349037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8729767	Cenpx	centromere protein X	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729767	Cenpx	centromere protein X	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8729767	Cenpx	centromere protein X	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8729767	Cenpx	centromere protein X	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8729790	Plpp7	phospholipid phosphatase 7 (inactive)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8729790	Plpp7	phospholipid phosphatase 7 (inactive)	gene	DOID:5041	esophageal cancer		ISO	RGD:1314085	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8729790	Plpp7	phospholipid phosphatase 7 (inactive)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729790	Plpp7	phospholipid phosphatase 7 (inactive)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8729857	Gnb5	G protein subunit beta 5	gene	DOID:0081008	Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia		ISO	RGD:731985	D	RGD:7240710	20190315	OMIM			
8729857	Gnb5	G protein subunit beta 5	gene	DOID:0081008	Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia		ISO	RGD:731985	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GNB5-related condition | ClinVar Annotator: match by term: Gnb5-related intellectual disability-cardiac arrhythmia syndrome | ClinVar Annotator: match by term: LODDER-MERLA SYNDROME, TYPE 1, WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CARDIAC ARRHYTHMIA	PMID:25741868|PMID:27523599|PMID:27677260|PMID:29368331|PMID:30631341|PMID:31130284|PMID:31631344|PMID:31720979|PMID:32203251|PMID:32280589|PMID:32987464|PMID:33176815|PMID:37994112
8729857	Gnb5	G protein subunit beta 5	gene	DOID:0111406	Fraser syndrome 3		ISO	RGD:731985	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fraser syndrome 3	
8729857	Gnb5	G protein subunit beta 5	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:27523599|PMID:27677260|PMID:30631341|PMID:31130284|PMID:33176815
8729857	Gnb5	G protein subunit beta 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8729857	Gnb5	G protein subunit beta 5	gene	DOID:1115	sarcoma		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8729857	Gnb5	G protein subunit beta 5	gene	DOID:1909	melanoma		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8729857	Gnb5	G protein subunit beta 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8729857	Gnb5	G protein subunit beta 5	gene	DOID:3275	thymoma		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8729857	Gnb5	G protein subunit beta 5	gene	DOID:4362	cervical cancer		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8729857	Gnb5	G protein subunit beta 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729857	Gnb5	G protein subunit beta 5	gene	DOID:630	genetic disease		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27523599|PMID:27677260|PMID:30631341|PMID:31130284|PMID:33176815
8729857	Gnb5	G protein subunit beta 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8729857	Gnb5	G protein subunit beta 5	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:27523599|PMID:27677260|PMID:29368331|PMID:30631341|PMID:31130284|PMID:33176815
8729857	Gnb5	G protein subunit beta 5	gene	DOID:9000267	LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA		ISO	RGD:731985	D	RGD:7240710	20190315	OMIM			
8729857	Gnb5	G protein subunit beta 5	gene	DOID:9000267	LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA		ISO	RGD:731985	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia	PMID:25741868|PMID:27523599|PMID:27677260|PMID:29368331|PMID:30631341|PMID:31130284|PMID:31631344|PMID:31720979|PMID:32203251|PMID:32280589|PMID:33176815
8729857	Gnb5	G protein subunit beta 5	gene	DOID:9003507	Premature Birth		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:27523599|PMID:27677260|PMID:29368331|PMID:30631341|PMID:31130284|PMID:33176815
8729857	Gnb5	G protein subunit beta 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:27523599|PMID:27677260|PMID:29368331|PMID:30631341|PMID:31130284|PMID:33176815
8729857	Gnb5	G protein subunit beta 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8729857	Gnb5	G protein subunit beta 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731985	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:25741873|PMID:27523599|PMID:27677260|PMID:30631341|PMID:31130284|PMID:33172956|PMID:33176815
8729857	Gnb5	G protein subunit beta 5	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:731985	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
8729857	Gnb5	G protein subunit beta 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8729885	Myoz2	myozenin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1316992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:17347475|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:31513939
8729885	Myoz2	myozenin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8729885	Myoz2	myozenin 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1316992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:25741868|PMID:31333075|PMID:31568572
8729885	Myoz2	myozenin 2	gene	DOID:0110322	hypertrophic cardiomyopathy 16		ISO	RGD:1316992	D	RGD:7240710	20180130	OMIM			
8729885	Myoz2	myozenin 2	gene	DOID:0110322	hypertrophic cardiomyopathy 16		ISO	RGD:1316992	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 16 | ClinVar Annotator: match by term: MYOZ2-related condition	PMID:17347475|PMID:24033266|PMID:25741868|PMID:28492532
8729885	Myoz2	myozenin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8729885	Myoz2	myozenin 2	gene	DOID:1059	intellectual disability		ISO	RGD:1316992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:21681106|PMID:23310962
8729885	Myoz2	myozenin 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1316992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:16199547|PMID:17576681|PMID:22310962|PMID:24033266|PMID:25640679|PMID:25741868|PMID:27066507|PMID:27600940|PMID:27788187|PMID:28492532|PMID:28798025|PMID:9536098
8729885	Myoz2	myozenin 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1316992	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:16199547|PMID:17347475|PMID:17576681|PMID:22310962|PMID:24033266|PMID:25640679|PMID:25741868|PMID:27066507|PMID:27600940|PMID:27788187|PMID:28492532|PMID:28798025|PMID:9536098
8729885	Myoz2	myozenin 2	gene	DOID:1324	lung cancer		ISO	RGD:1316992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
8729885	Myoz2	myozenin 2	gene	DOID:1909	melanoma		ISO	RGD:1316992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8729885	Myoz2	myozenin 2	gene	DOID:397	restrictive cardiomyopathy		ISO	RGD:1316992	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Restrictive cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:10534	stomach cancer		ISO	RGD:733855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:1324	lung cancer		ISO	RGD:733855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:733855	D	RGD:9068941	20200609	RGD		protein:increased expression:epidermal cell, squamous cell of epidermis (human)	PMID:16497868|REF_RGD_ID:8698657
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:1993	rectum cancer	susceptibility	ISO	RGD:733855	D	RGD:9068941	20220303	RGD		DNA:SNP:3'utr: (rs1051677) (human)	PMID:26735576|REF_RGD_ID:151361212
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:2394	ovarian cancer		ISO	RGD:733855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:2513	basal cell carcinoma		ISO	RGD:733855	D	RGD:9068941	20200609	RGD		protein:increased expression:epidermal cell, basal cell of epidermis (human)	PMID:16497868|REF_RGD_ID:8698657
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:3070	high grade glioma		ISO	RGD:733855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:733855	D	RGD:9068941	20260423	RGD		DNA:SNP: :rs3821104	PMID:22027142|REF_RGD_ID:645135161
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:733855	D	RGD:9068941	20200609	RGD		DNA:SNPs:multiple (human)	PMID:20463177|REF_RGD_ID:8698653
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:733855	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:4362	cervical cancer		ISO	RGD:733855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:5041	esophageal cancer		ISO	RGD:733855	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:9006205	Animal Disease Models		ISO	RGD:733855	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:9256	colorectal cancer		ISO	RGD:733855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8729907	Xrcc5	X-ray repair cross complementing 5	gene	DOID:9538	multiple myeloma	susceptibility	ISO	RGD:733855	D	RGD:9068941	20200609	RGD		DNA:SNP:3'-UTR (human)	PMID:17901044|REF_RGD_ID:8698655
8729936	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8729936	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8729936	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:1324	lung cancer		ISO	RGD:1312417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8729936	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:1909	melanoma		ISO	RGD:1312417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8729936	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:3070	high grade glioma		ISO	RGD:1312417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8729936	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:1312417	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8729936	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729936	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:6039	uveal melanoma		ISO	RGD:1312417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8729936	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8729936	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8729936	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8729936	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8729976	Serinc1	serine incorporator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8729976	Serinc1	serine incorporator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8729976	Serinc1	serine incorporator 1	gene	DOID:0060058	lymphoma		ISO	RGD:1349070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8729976	Serinc1	serine incorporator 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8729976	Serinc1	serine incorporator 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1349070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8729976	Serinc1	serine incorporator 1	gene	DOID:3275	thymoma		ISO	RGD:1349070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8729976	Serinc1	serine incorporator 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8729976	Serinc1	serine incorporator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8729976	Serinc1	serine incorporator 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1349070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8729976	Serinc1	serine incorporator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:0050561	Lennox-Gastaut syndrome		ISO	RGD:10614	D	RGD:9068941	20250828	MouseDO		OMIM:606369	
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:0050696	fetal alcohol spectrum disorder	sexual_dimorphism	ISO	RGD:10614	D	RGD:9068941	20240627	RGD		in male mice only; mRNA:increased expression:frontal cortex:	PMID:30312858|REF_RGD_ID:405866345
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:0050696	fetal alcohol spectrum disorder	treatment	ISO	RGD:2651	D	RGD:9068941	20240627	RGD			PMID:23763370|REF_RGD_ID:13432044
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:736139	D	RGD:9068941	20240627	RGD		DNA:SNPs: :	PMID:14745296|REF_RGD_ID:405866351
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:10614	D	RGD:9068941	20250724	MouseDO			
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736139	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:22037176
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:0060249	scoliosis		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:23934111|PMID:25741868|PMID:28053010|PMID:28492532|PMID:34906499
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:0080447	developmental and epileptic encephalopathy 43		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 43	PMID:23934111|PMID:25741868|PMID:26467025|PMID:26645412|PMID:26950270|PMID:26993267|PMID:27476654|PMID:27622563|PMID:28053010|PMID:28492532|PMID:33585817|PMID:34906499|PMID:35982159
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:0080447	developmental and epileptic encephalopathy 43	susceptibility	ISO	RGD:736139	D	RGD:7240710	20260729	OMIM			
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:736139	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1	PMID:25741868
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:23934111|PMID:25741868|PMID:28053010|PMID:28492532|PMID:34906499
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:1059	intellectual disability		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:23934111|PMID:25741868|PMID:26950270|PMID:28053010|PMID:28492532|PMID:28544625|PMID:34906499
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:10907	microcephaly		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:28492532
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:1115	sarcoma		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:11830	myopia		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:12849	autistic disorder		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:26950270|PMID:28053010|PMID:28492532
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:1574	alcohol use disorder	susceptibility	ISO	RGD:736139	D	RGD:9068941	20240627	RGD		DNA:CA repeats: :(human)	PMID:9858031|REF_RGD_ID:405866342
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:1824	status epilepticus		ISO	RGD:2651	D	RGD:9068941	20240627	RGD		protein:decreased expression;hippocampus,temporal lobe	PMID:31356824|REF_RGD_ID:405866354
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:1825	childhood absence epilepsy		ISO	RGD:736139	D	RGD:9068941	20221103	CTD		CTD Direct Evidence: marker/mechanism	PMID:18514161
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:1825	childhood absence epilepsy		ISO	RGD:736139	D	RGD:9068941	20221103	RGD		DNA:SNPs	PMID:16835263|REF_RGD_ID:1601269
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:1826	epilepsy		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizures	PMID:23934111|PMID:24909990|PMID:25741868|PMID:26950270|PMID:27476654|PMID:28053010|PMID:28492532|PMID:28607477|PMID:34906499
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:1827	generalized epilepsy		ISO	RGD:736139	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868|PMID:27864847|PMID:28492532|PMID:30185235|PMID:32581362|PMID:34698933|PMID:35383156
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:1909	melanoma		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:1924	hypogonadism		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypergonadotropic hypogonadism	PMID:28492532
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:1932	Angelman syndrome		ISO	RGD:736139	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:15878204
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:2661	myoepithelioma		ISO	RGD:736139	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:3070	high grade glioma		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:4362	cervical cancer		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:5041	esophageal cancer		ISO	RGD:736139	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:535	sleep disorder		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:23934111|PMID:25741868|PMID:28053010|PMID:28492532|PMID:34906499
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:5419	schizophrenia		ISO	RGD:736139	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:630	genetic disease		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:18514161|PMID:23934111|PMID:24909990|PMID:24999380|PMID:25741868|PMID:26467025|PMID:26645412|PMID:26950270|PMID:26993267|PMID:28053010|PMID:28492532|PMID:28607477|PMID:29162865|PMID:34698933|PMID:9536098
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:8398	osteoarthritis		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoarthritis	PMID:28492532
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:9000998	Brain Injuries		ISO	RGD:736139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23159883
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:9001585	Intraventricular Hemorrhage		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intraventricular hemorrhage	PMID:25741868|PMID:26950270|PMID:28053010|PMID:28492532
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:736139	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:29942082
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:736139	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:12189488
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:736139	D	RGD:9068941	20260521	RGD		DNA:point mutation:exon:R192H	PMID:12189488|REF_RGD_ID:1601268
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:9004864	Isodicentric Chromosome 15 Syndrome		ISO	RGD:736139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23663378
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:9006141	Childhood Absence Epilepsy 5		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 5	PMID:17576681|PMID:18514161|PMID:23934111|PMID:24088041|PMID:24909990|PMID:24999380|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26950270|PMID:27476654|PMID:27622563|PMID:28053010|PMID:28492532|PMID:28544625|PMID:28607477|PMID:31164858|PMID:33057194|PMID:33585817|PMID:34698933|PMID:34906499|PMID:35383156|PMID:35982159|PMID:37647766|PMID:9536098
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:9006141	Childhood Absence Epilepsy 5	susceptibility	ISO	RGD:736139	D	RGD:7240710	20260729	OMIM			
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:736139	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sudden infant death syndrome	PMID:25741868|PMID:28492532
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24909990|PMID:25741868|PMID:26950270|PMID:28053010|PMID:28492532|PMID:28607477
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:736139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15878204
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:9009060	Childhood Absence Epilepsy 1		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy, childhood absence 1 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1	PMID:11198279|PMID:16199547|PMID:17576681|PMID:18514161|PMID:23495136|PMID:23934111|PMID:24909990|PMID:24999380|PMID:25533962|PMID:25741868|PMID:25849321|PMID:26068938|PMID:26467025|PMID:26704558|PMID:26950270|PMID:27476654|PMID:27622563|PMID:27864847|PMID:28053010|PMID:2828157|PMID:28281572|PMID:28492532|PMID:28544625|PMID:28607477|PMID:29852413|PMID:29961870|PMID:30185235|PMID:30728247|PMID:31164858|PMID:31435640|PMID:31440721|PMID:33057194|PMID:33287870|PMID:33585817|PMID:34120799|PMID:34645491|PMID:34698933|PMID:34782754|PMID:34906499|PMID:35383156|PMID:35718920|PMID:35982159|PMID:37647766|PMID:8382702|PMID:9536098
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:9834	hyperopia		ISO	RGD:736139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:23934111|PMID:25741868|PMID:28053010|PMID:28492532|PMID:34906499
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:9976	heroin dependence	susceptibility	ISO	RGD:736139	D	RGD:9068941	20240627	RGD		DNA:SNP::rs7165224(human)	PMID:19500151|REF_RGD_ID:5509583
8729995	Gabrb3	gamma-aminobutyric acid type A receptor subunit beta3	gene	DOID:9976	heroin dependence	susceptibility	ISO	RGD:736139	D	RGD:9068941	20240627	RGD		DNA:SNP:promoter:rs4906902(human)	PMID:25025424|REF_RGD_ID:405866341
8730005	Myl2	myosin light chain 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia	PMID:23861362|PMID:25741868|PMID:28492532|PMID:28611029
8730005	Myl2	myosin light chain 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy	PMID:23861362|PMID:25741868|PMID:28492532|PMID:28611029|PMID:35629155
8730005	Myl2	myosin light chain 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28166811|PMID:28223422|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28771489|PMID:28798025|PMID:29099038|PMID:29398688|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30297972|PMID:30403391|PMID:30430732|PMID:31019283|PMID:31127036|PMID:32453731|PMID:33731536|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616
8730005	Myl2	myosin light chain 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26497160|PMID:26664906|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28166811|PMID:28223422|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28771489|PMID:28798025|PMID:29099038|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30430732|PMID:30847666|PMID:31019283|PMID:31127036|PMID:31513939|PMID:31737537|PMID:31980526|PMID:32453731|PMID:32665702|PMID:32880476|PMID:33087929|PMID:33548158|PMID:33673806|PMID:33731536|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616
8730005	Myl2	myosin light chain 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26906074|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28640247|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28855170|PMID:28991257|PMID:29099038|PMID:29253866|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31019283|PMID:31104103|PMID:31127036|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31771554|PMID:31847883|PMID:31980526|PMID:32453731|PMID:32600061|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33190526|PMID:33337957|PMID:33495597|PMID:33548158|PMID:33558530|PMID:33662488|PMID:33673806|PMID:33731536|PMID:34935411|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616
8730005	Myl2	myosin light chain 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy	PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16199547|PMID:16837010|PMID:17576681|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:22260945|PMID:22958901|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:24992035|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25770245|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26385864|PMID:26906074|PMID:26914223|PMID:26936621|PMID:27378946|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28323875|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28855170|PMID:28939701|PMID:28971120|PMID:28991257|PMID:29099038|PMID:29253866|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29549657|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31019283|PMID:31104103|PMID:31127036|PMID:31315475|PMID:31323898|PMID:31737537|PMID:31771554|PMID:31847883|PMID:31980526|PMID:32453731|PMID:32600061|PMID:32665702|PMID:32746448|PMID:33029862|PMID:33190526|PMID:33297573|PMID:33337957|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33662488|PMID:33731536|PMID:33732734|PMID:33891674|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35993536|PMID:36178741|PMID:36264615|PMID:37093871|PMID:37477868|PMID:37652022|PMID:37904629|PMID:37937776|PMID:38489124|PMID:38540378|PMID:38757491|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982
8730005	Myl2	myosin light chain 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:24992035|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25770245|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26385864|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26906074|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28323875|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28640247|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28855170|PMID:28939701|PMID:28971120|PMID:28991257|PMID:29099038|PMID:29253866|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29549657|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30453078|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31019283|PMID:31104103|PMID:31127036|PMID:31199839|PMID:31315475|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31771554|PMID:31847883|PMID:31980526|PMID:32453731|PMID:32600061|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33297573|PMID:33337957|PMID:33495596|PMID:33495597|PMID:33548158|PMID:33558530|PMID:33662488|PMID:33673806|PMID:33731536|PMID:33732734|PMID:33891674|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35050212|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35993536|PMID:36178741|PMID:36264615|PMID:37093871|PMID:37477868|PMID:37652022|PMID:37904629|PMID:37937776|PMID:38489124|PMID:38540378|PMID:38757491|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616
8730005	Myl2	myosin light chain 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16837010|PMID:17576681|PMID:18056765|PMID:18929571|PMID:19035361|PMID:19150977|PMID:20855589|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22958901|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23727233|PMID:24033266|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26656175|PMID:26906074|PMID:26914223|PMID:27435932|PMID:27532257|PMID:27600940|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28798025|PMID:28971120|PMID:29398688|PMID:29452157|PMID:29687901|PMID:29710196|PMID:29988065|PMID:30365366|PMID:30430732|PMID:30453078|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31104103|PMID:31127036|PMID:31315475|PMID:32453731|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33563892|PMID:34935411|PMID:35629155|PMID:35653365|PMID:36143288|PMID:37093871|PMID:37477868|PMID:37652022|PMID:37904629|PMID:37937776|PMID:38489124|PMID:38757491|PMID:39486665|PMID:40568962|PMID:41357762|PMID:9535554|PMID:9536098
8730005	Myl2	myosin light chain 2	gene	DOID:0051044	infantile-onset myofibrillar myopathy 12 with cardiomyopathy		ISO	RGD:737270	D	RGD:7240710	20210818	OMIM			
8730005	Myl2	myosin light chain 2	gene	DOID:0051044	infantile-onset myofibrillar myopathy 12 with cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY | ClinVar Annotator: match by term: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy	PMID:11102452|PMID:11748309|PMID:12668451|PMID:12707239|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16837010|PMID:18056765|PMID:18929571|PMID:19035361|PMID:19150977|PMID:20855589|PMID:21415409|PMID:22958901|PMID:23299917|PMID:23343568|PMID:23365102|PMID:24111713|PMID:24842367|PMID:25324513|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26284228|PMID:27435932|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28855170|PMID:29988065|PMID:30847666|PMID:31127036|PMID:31315475|PMID:32453731|PMID:32600061|PMID:33337957|PMID:33495597|PMID:33558530|PMID:33731536|PMID:34935411|PMID:35629155|PMID:35653365|PMID:37652022|PMID:37904629|PMID:37937776|PMID:38489124|PMID:38757491|PMID:39486665|PMID:40568962|PMID:9535554
8730005	Myl2	myosin light chain 2	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:737270	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:25741868
8730005	Myl2	myosin light chain 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28750076|PMID:28771489|PMID:29253866|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31019283|PMID:31104103|PMID:31323898|PMID:31771554|PMID:31847883|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33558530|PMID:34935411|PMID:8673105|PMID:9535554
8730005	Myl2	myosin light chain 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28750076|PMID:28771489|PMID:29253866|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31019283|PMID:31104103|PMID:31315475|PMID:31323898|PMID:31771554|PMID:31847883|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33732734|PMID:34935411|PMID:35026164|PMID:35653365|PMID:35993536|PMID:37652022|PMID:37937776|PMID:8673105|PMID:9535554
8730005	Myl2	myosin light chain 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28750076|PMID:28771489|PMID:29253866|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31019283|PMID:31104103|PMID:31315475|PMID:31323898|PMID:31771554|PMID:31847883|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33732734|PMID:34935411|PMID:35026164|PMID:35653365|PMID:35993536|PMID:37652022|PMID:37904629|PMID:37937776|PMID:38489124|PMID:8673105|PMID:9535554
8730005	Myl2	myosin light chain 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27532257|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31104103|PMID:31315475|PMID:31847883|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33558530|PMID:34935411|PMID:35653365|PMID:35993536|PMID:36264615|PMID:37652022|PMID:37904629|PMID:37937776|PMID:38489124|PMID:38540378|PMID:8673105|PMID:9535554
8730005	Myl2	myosin light chain 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16837010|PMID:18056765|PMID:18929571|PMID:19035361|PMID:19150977|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22958901|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23727233|PMID:24033266|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26906074|PMID:26914223|PMID:27435932|PMID:27532257|PMID:28467684|PMID:28492532|PMID:28518168|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31104103|PMID:31315475|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33558530|PMID:34935411|PMID:35629155|PMID:35653365|PMID:35993536|PMID:37652022|PMID:37904629|PMID:37937776|PMID:38489124|PMID:9535554
8730005	Myl2	myosin light chain 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:737270	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28166811|PMID:28223422|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30403391|PMID:30430732|PMID:31019283|PMID:8673105|PMID:9535554
8730005	Myl2	myosin light chain 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:737270	D	RGD:8554872	20250513	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16717210|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20855589|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24842367|PMID:24929957|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25741868|PMID:25980907|PMID:25982499|PMID:26002683|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27532257|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31104103|PMID:31315475|PMID:31847883|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33558530|PMID:34935411|PMID:35653365|PMID:35993536|PMID:36264615|PMID:37652022|PMID:37904629|PMID:37937776|PMID:38489124|PMID:38540378|PMID:8673105|PMID:9535554
8730005	Myl2	myosin light chain 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:737270	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16837010|PMID:18056765|PMID:18929571|PMID:19035361|PMID:19150977|PMID:20855589|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22958901|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23727233|PMID:24033266|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26906074|PMID:26914223|PMID:27435932|PMID:27532257|PMID:28467684|PMID:28492532|PMID:28518168|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31104103|PMID:31315475|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33558530|PMID:34935411|PMID:35629155|PMID:35653365|PMID:37652022|PMID:37904629|PMID:37937776|PMID:38489124|PMID:9535554
8730005	Myl2	myosin light chain 2	gene	DOID:0110316	hypertrophic cardiomyopathy 10		ISO	RGD:737270	D	RGD:7240710	20180130	OMIM			
8730005	Myl2	myosin light chain 2	gene	DOID:0110316	hypertrophic cardiomyopathy 10		ISO	RGD:737270	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2 | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 10 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 10	PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:18987303|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21520333|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23549607|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24374283|PMID:24793961|PMID:24842367|PMID:24992035|PMID:25031304|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25770245|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26385864|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26906074|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28323875|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28640247|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28855170|PMID:28991257|PMID:29099038|PMID:29247119|PMID:29253866|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31019283|PMID:31104103|PMID:31127036|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31771554|PMID:31847883|PMID:31980526|PMID:31983221|PMID:32453731|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33190526|PMID:33495597|PMID:33500567|PMID:33548158|PMID:33558530|PMID:33673806|PMID:33731536|PMID:33891674|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616
8730005	Myl2	myosin light chain 2	gene	DOID:0110316	hypertrophic cardiomyopathy 10		ISO	RGD:737270	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2 | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 10 | ClinVar Annotator: match by term: Familial isolated restrictive cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 10	PMID:10494800|PMID:11102452|PMID:11133219|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16837010|PMID:17576681|PMID:18056765|PMID:18506004|PMID:18929571|PMID:18987303|PMID:19035361|PMID:19150977|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21520333|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25412762|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25825243|PMID:26074085|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26497160|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28223422|PMID:28323875|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28822653|PMID:28855170|PMID:28971120|PMID:29247119|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29463717|PMID:29687901|PMID:29710196|PMID:29988065|PMID:30297972|PMID:30365366|PMID:30430732|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31104103|PMID:31127036|PMID:31315475|PMID:31983221|PMID:32183154|PMID:32453731|PMID:32600061|PMID:32746448|PMID:33012304|PMID:33139982|PMID:33190526|PMID:33337957|PMID:33495597|PMID:33500567|PMID:33558530|PMID:33563892|PMID:33954932|PMID:34935411|PMID:35177471|PMID:35629155|PMID:35653365|PMID:36143288|PMID:37093871|PMID:37107598|PMID:37432431|PMID:37652022|PMID:37904629|PMID:37937776|PMID:38489124|PMID:38757491|PMID:38837338|PMID:39486665|PMID:40568962|PMID:4942892|PMID:678511|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9742053
8730005	Myl2	myosin light chain 2	gene	DOID:10534	stomach cancer		ISO	RGD:737270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8730005	Myl2	myosin light chain 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic | ClinVar Annotator: match by term: Hypertrophic Cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16837010|PMID:17576681|PMID:18056765|PMID:18533079|PMID:18929571|PMID:19035361|PMID:19150977|PMID:20855589|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:22260945|PMID:22958901|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23727233|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26906074|PMID:26914223|PMID:27435932|PMID:27532257|PMID:28138913|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28855170|PMID:28971120|PMID:28991257|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29549657|PMID:29687901|PMID:29710196|PMID:30365366|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31006259|PMID:31104103|PMID:31315475|PMID:31847883|PMID:32453731|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33495597|PMID:33500567|PMID:33558530|PMID:33563892|PMID:34935411|PMID:35265679|PMID:35629155|PMID:35653365|PMID:36143288|PMID:36264615|PMID:37093871|PMID:37107598|PMID:37432431|PMID:37477868|PMID:37652022|PMID:37904629|PMID:37937776|PMID:38489124|PMID:38540378|PMID:38689299|PMID:38757491|PMID:9535554|PMID:9536098
8730005	Myl2	myosin light chain 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18533079|PMID:20173211|PMID:21310275|PMID:22958901|PMID:23299917|PMID:23343568|PMID:23396983|PMID:24033266|PMID:24055113|PMID:24111713|PMID:25524337|PMID:25637381|PMID:25741868|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28492532|PMID:28750076|PMID:28771489|PMID:28855170|PMID:29253866|PMID:30403391|PMID:31019283|PMID:31323898|PMID:31771554
8730005	Myl2	myosin light chain 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532|PMID:29447731|PMID:33954932|PMID:38489124
8730005	Myl2	myosin light chain 2	gene	DOID:1682	congenital heart disease		ISO	RGD:737270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	
8730005	Myl2	myosin light chain 2	gene	DOID:9000543	Death		ISO	RGD:737270	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Death in early adulthood	PMID:10948063|PMID:11102452|PMID:12404107|PMID:12668451|PMID:14594949|PMID:16076902|PMID:16751284|PMID:17606808|PMID:21310275|PMID:21896538|PMID:24033266|PMID:25324513|PMID:25351510|PMID:25741868|PMID:26497160|PMID:27435932|PMID:27532257|PMID:28138913|PMID:28166811|PMID:28492532|PMID:28771489|PMID:30706179|PMID:30847666|PMID:31513939|PMID:32665702|PMID:32880476|PMID:33087929|PMID:33495596|PMID:33495597|PMID:33548158|PMID:33662488|PMID:33673806|PMID:35050212|PMID:35653365|PMID:8673105|PMID:9724616
8730005	Myl2	myosin light chain 2	gene	DOID:9006030	Infant Death		ISO	RGD:737270	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Death in infancy	PMID:11748309|PMID:12668451|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16837010|PMID:18056765|PMID:18929571|PMID:19035361|PMID:19150977|PMID:20855589|PMID:21415409|PMID:22958901|PMID:23299917|PMID:23343568|PMID:24111713|PMID:24842367|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26284228|PMID:27435932|PMID:28467684|PMID:28492532|PMID:28518168|PMID:31315475|PMID:33337957|PMID:33558530|PMID:34935411|PMID:35629155|PMID:35653365|PMID:37652022|PMID:37904629|PMID:37937776|PMID:38489124
8730005	Myl2	myosin light chain 2	gene	DOID:9007033	Ventricular Premature Complexes		ISO	RGD:737270	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature ventricular contraction	PMID:11748309|PMID:12668451|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16837010|PMID:18056765|PMID:18929571|PMID:19035361|PMID:19150977|PMID:20855589|PMID:21415409|PMID:22958901|PMID:23299917|PMID:23343568|PMID:24111713|PMID:24842367|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26284228|PMID:27435932|PMID:28467684|PMID:28492532|PMID:28518168|PMID:31315475|PMID:33337957|PMID:33558530|PMID:34935411|PMID:35629155|PMID:35653365|PMID:37652022|PMID:37904629|PMID:37937776|PMID:38489124
8730005	Myl2	myosin light chain 2	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:737270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sudden cardiac arrest	PMID:25741868|PMID:28492532|PMID:28640247|PMID:30297972|PMID:32815737|PMID:37652022
8730016	Spaca3	sperm acrosome associated 3	gene	DOID:10534	stomach cancer		ISO	RGD:1315441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8730016	Spaca3	sperm acrosome associated 3	gene	DOID:1909	melanoma		ISO	RGD:1315441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8730016	Spaca3	sperm acrosome associated 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730030	Sh2d6	SH2 domain containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730030	Sh2d6	SH2 domain containing 6	gene	DOID:10534	stomach cancer		ISO	RGD:1606407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8730030	Sh2d6	SH2 domain containing 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730047	Pdia2	protein disulfide isomerase family A member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730047	Pdia2	protein disulfide isomerase family A member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8730047	Pdia2	protein disulfide isomerase family A member 2	gene	DOID:1115	sarcoma		ISO	RGD:1313029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8730047	Pdia2	protein disulfide isomerase family A member 2	gene	DOID:1324	lung cancer		ISO	RGD:1313029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8730047	Pdia2	protein disulfide isomerase family A member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8730047	Pdia2	protein disulfide isomerase family A member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8730047	Pdia2	protein disulfide isomerase family A member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730047	Pdia2	protein disulfide isomerase family A member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8730047	Pdia2	protein disulfide isomerase family A member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8730047	Pdia2	protein disulfide isomerase family A member 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1313029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1316934	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:0081443	Stolerman neurodevelopmental syndrome		ISO	RGD:1316934	D	RGD:7240710	20190821	OMIM			
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:0081443	Stolerman neurodevelopmental syndrome		ISO	RGD:1316934	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KDM6B-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | ClinVar Annotator: match by term: STOLERMAN NEURODEVELOPMENTAL SYNDROME	PMID:25741868|PMID:28492532|PMID:31124279|PMID:37196654
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:10534	stomach cancer		ISO	RGD:1316934	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:1059	intellectual disability		ISO	RGD:1316934	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:1115	sarcoma		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:12849	autistic disorder		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:1909	melanoma		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:2234	focal epilepsy		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: localization related epilepsy	PMID:25741868
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:3459	breast carcinoma		ISO	RGD:1316934	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast (human)	PMID:23152497|REF_RGD_ID:9587818
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:4362	cervical cancer		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1316934	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney (human)	PMID:23057811|REF_RGD_ID:9587837
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:630	genetic disease		ISO	RGD:1316934	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29220567
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1307629	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord (rat)	PMID:22578249|REF_RGD_ID:9587821
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:9003816	Macrocephaly		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316934	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:9007573	Flatfoot		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:9008582	Developmental Disease		ISO	RGD:1316934	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8730064	Kdm6b	lysine demethylase 6B	gene	DOID:962	neurofibroma		ISO	RGD:1316935	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:sciatic nerve (mouse)	PMID:23748155|REF_RGD_ID:9587842
8730094	Mstn	myostatin	gene	DOID:0111072	myostatin-related muscle hypertrophy		ISO	RGD:736334	D	RGD:7240710	20180822	OMIM			
8730094	Mstn	myostatin	gene	DOID:1459	hypothyroidism		ISO	RGD:3115	D	RGD:9068941	20200609	RGD			PMID:18997488|REF_RGD_ID:2303545
8730094	Mstn	myostatin	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:3115	D	RGD:9068941	20200609	RGD			PMID:16837207|REF_RGD_ID:2303556
8730094	Mstn	myostatin	gene	DOID:341	peripheral vascular disease		ISO	RGD:3115	D	RGD:9068941	20200609	RGD			PMID:19125275|REF_RGD_ID:2303544
8730094	Mstn	myostatin	gene	DOID:4676	uremia		ISO	RGD:3115	D	RGD:9068941	20211126	RGD		associated with Kidney Failure, Chronic	PMID:16871256|REF_RGD_ID:2303558
8730094	Mstn	myostatin	gene	DOID:5844	myocardial infarction		ISO	RGD:736335	D	RGD:9068941	20230615	RGD		mRNA:decreased expression:myocardium (mouse)	PMID:32427381|REF_RGD_ID:329849118
8730094	Mstn	myostatin	gene	DOID:6000	congestive heart failure		ISO	RGD:3115	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:myocardium	PMID:16968467|REF_RGD_ID:2303554
8730094	Mstn	myostatin	gene	DOID:6000	congestive heart failure		ISO	RGD:736334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16968467
8730094	Mstn	myostatin	gene	DOID:767	muscular atrophy		ISO	RGD:3115	D	RGD:9068941	20200609	RGD		associated with Addison's Disease	PMID:15738643|REF_RGD_ID:2303596
8730094	Mstn	myostatin	gene	DOID:767	muscular atrophy		ISO	RGD:3115	D	RGD:9068941	20200609	RGD		mRNA, protein:altered expression:skeletal muscle	PMID:15758361|REF_RGD_ID:2303594
8730094	Mstn	myostatin	gene	DOID:9007346	Cachexia		ISO	RGD:3115	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Hepatocellular;mRNA:increased expression:skeletal muscle	PMID:18578694|REF_RGD_ID:2303552
8730094	Mstn	myostatin	gene	DOID:9007730	Burns		ISO	RGD:3115	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skeletal muscle	PMID:11481237|REF_RGD_ID:2303598
8730094	Mstn	myostatin	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:736335	D	RGD:9068941	20230615	RGD		mRNA, protein:increased expression:heart (mouse)	PMID:30765322|REF_RGD_ID:329849112
8730108	Hif1an	hypoxia inducible factor 1 subunit alpha inhibitor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730108	Hif1an	hypoxia inducible factor 1 subunit alpha inhibitor	gene	DOID:10534	stomach cancer		ISO	RGD:1317966	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8730108	Hif1an	hypoxia inducible factor 1 subunit alpha inhibitor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730108	Hif1an	hypoxia inducible factor 1 subunit alpha inhibitor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8730108	Hif1an	hypoxia inducible factor 1 subunit alpha inhibitor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730108	Hif1an	hypoxia inducible factor 1 subunit alpha inhibitor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8730108	Hif1an	hypoxia inducible factor 1 subunit alpha inhibitor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8730120	Nek3	NIMA related kinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8730120	Nek3	NIMA related kinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1316605	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8730120	Nek3	NIMA related kinase 3	gene	DOID:1115	sarcoma		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8730120	Nek3	NIMA related kinase 3	gene	DOID:1324	lung cancer		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8730120	Nek3	NIMA related kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8730120	Nek3	NIMA related kinase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8730120	Nek3	NIMA related kinase 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
8730120	Nek3	NIMA related kinase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8730120	Nek3	NIMA related kinase 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8730120	Nek3	NIMA related kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730120	Nek3	NIMA related kinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8730120	Nek3	NIMA related kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730120	Nek3	NIMA related kinase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8730120	Nek3	NIMA related kinase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8730164	Slc66a1	solute carrier family 66 member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8730164	Slc66a1	solute carrier family 66 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730164	Slc66a1	solute carrier family 66 member 1	gene	DOID:1064	cystinosis		ISO	RGD:1323183	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Nephropathic cystinosis	PMID:25741868
8730164	Slc66a1	solute carrier family 66 member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8730164	Slc66a1	solute carrier family 66 member 1	gene	DOID:1115	sarcoma		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8730164	Slc66a1	solute carrier family 66 member 1	gene	DOID:1909	melanoma		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8730164	Slc66a1	solute carrier family 66 member 1	gene	DOID:3275	thymoma		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8730164	Slc66a1	solute carrier family 66 member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323183	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8730164	Slc66a1	solute carrier family 66 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730164	Slc66a1	solute carrier family 66 member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8730164	Slc66a1	solute carrier family 66 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730164	Slc66a1	solute carrier family 66 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8730164	Slc66a1	solute carrier family 66 member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:0080600	COVID-19		ISO	RGD:1347158	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:0110034	X-linked Alport syndrome		ISO	RGD:1347158	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: X-linked Alport syndrome	PMID:12244320|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:1347158	D	RGD:9068941	20200609	RGD		DNA:SNPs	PMID:17903305|REF_RGD_ID:2306127
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:1107	esophageal carcinoma		ISO	RGD:1347158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Carcinoma of esophagus	
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1347158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:26046366
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:1347158	D	RGD:9068941	20200609	RGD			PMID:14664792|REF_RGD_ID:2306130
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:1557852	D	RGD:9068941	20200609	RGD			PMID:15567863|PMID:9069289|REF_RGD_ID:1582314|REF_RGD_ID:1582669
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1347158	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:1347158	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (human)	PMID:19635508|REF_RGD_ID:5490168
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:3275	thymoma		ISO	RGD:1347158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347158	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:783	end stage renal disease		ISO	RGD:1347158	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19878707
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1347158	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16998812
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:1557852	D	RGD:9068941	20200609	RGD			PMID:17510407|REF_RGD_ID:2306128
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:9003023	Heart Rupture, Post-Infarction		ISO	RGD:1557852	D	RGD:9068941	20200609	RGD			PMID:17389263|REF_RGD_ID:2306129
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1347158	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:12244320|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1347158	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12244320|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:9007102	Myocardial Ischemia	disease_progression	ISO	RGD:1347158	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood, mononuclear cell	PMID:17945237|REF_RGD_ID:2306126
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:9008622	Adrenal Insufficiency		ISO	RGD:1564316	D	RGD:9068941	20260226	RGD		associated with lung injury; mRNA:decreased expression:lung	PMID:22081818|REF_RGD_ID:632527144
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:9206	Barrett's esophagus		ISO	RGD:1347158	D	RGD:7240710	20180130	OMIM			
8730178	Msr1	macrophage scavenger receptor 1	gene	DOID:9206	Barrett's esophagus		ISO	RGD:1347158	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA | ClinVar Annotator: match by term: Barrett esophagus | ClinVar Annotator: match by term: MSR1-related condition	PMID:12244320|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532
8730199	Nmb	neuromedin B	gene	DOID:1324	lung cancer		ISO	RGD:1315040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8730199	Nmb	neuromedin B	gene	DOID:9006202	Pruritus		ISO	RGD:1315040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29669290
8730199	Nmb	neuromedin B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730199	Nmb	neuromedin B	gene	DOID:9970	obesity		ISO	RGD:1315040	D	RGD:9068941	20200609	RGD		DNA:polymorphism:CDS:401G>A, silent mutation in stop codon, associated with body weight (p=0.02)	PMID:11194934|REF_RGD_ID:1642062
8730199	Nmb	neuromedin B	gene	DOID:9970	obesity		ISO	RGD:1562710	D	RGD:9068941	20200609	RGD		protein:increased expression:central hypothalamus:concentrations higher in obese (fa/fa) than in lean (Fa/?) male Zucker rats, not affected by weight loss	PMID:1709601|REF_RGD_ID:1642063
8730199	Nmb	neuromedin B	gene	DOID:9970	obesity	susceptibility	ISO	RGD:1315040	D	RGD:9068941	20200609	RGD		DNA:polymorphism:CDS:217C>A, amino acid P73T, associated with disinhibition toward food (p=0.03), susceptibility to hunger (p=0.01) and increased percent body fat (p<0.05)	PMID:15585758|REF_RGD_ID:1642059
8730210	Sltm	SAFB like transcription modulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8730210	Sltm	SAFB like transcription modulator	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1605637	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Jeune Syndrome	
8730210	Sltm	SAFB like transcription modulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730210	Sltm	SAFB like transcription modulator	gene	DOID:10534	stomach cancer		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8730210	Sltm	SAFB like transcription modulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8730210	Sltm	SAFB like transcription modulator	gene	DOID:1115	sarcoma		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8730210	Sltm	SAFB like transcription modulator	gene	DOID:1909	melanoma		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8730210	Sltm	SAFB like transcription modulator	gene	DOID:3070	high grade glioma		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8730210	Sltm	SAFB like transcription modulator	gene	DOID:4362	cervical cancer		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8730210	Sltm	SAFB like transcription modulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730210	Sltm	SAFB like transcription modulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8730210	Sltm	SAFB like transcription modulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730210	Sltm	SAFB like transcription modulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8730238	Ubfd1	ubiquitin family domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606788	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730238	Ubfd1	ubiquitin family domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8730238	Ubfd1	ubiquitin family domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8730238	Ubfd1	ubiquitin family domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8730238	Ubfd1	ubiquitin family domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730238	Ubfd1	ubiquitin family domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730238	Ubfd1	ubiquitin family domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8730238	Ubfd1	ubiquitin family domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8730248	Cotl1	coactosin like F-actin binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730248	Cotl1	coactosin like F-actin binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8730248	Cotl1	coactosin like F-actin binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1313560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8730248	Cotl1	coactosin like F-actin binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1313560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8730248	Cotl1	coactosin like F-actin binding protein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8730248	Cotl1	coactosin like F-actin binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730248	Cotl1	coactosin like F-actin binding protein 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20562527
8730248	Cotl1	coactosin like F-actin binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8730248	Cotl1	coactosin like F-actin binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8730256	Yipf2	Yip1 domain family member 2	gene	DOID:3275	thymoma		ISO	RGD:1604600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8730256	Yipf2	Yip1 domain family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604600	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8730256	Yipf2	Yip1 domain family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604600	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8730256	Yipf2	Yip1 domain family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730256	Yipf2	Yip1 domain family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730256	Yipf2	Yip1 domain family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:0050649	atransferrinemia	treatment	ISO	RGD:1550218	D	RGD:9068941	20200609	RGD			PMID:20956801|REF_RGD_ID:11041615
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:70971	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:19253830|REF_RGD_ID:11041633
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:70971	D	RGD:9068941	20250403	RGD		mRNA:decreased expression:liver	PMID:16433737|REF_RGD_ID:598108046
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1550218	D	RGD:9068941	20200609	RGD		associated with iron overload;protein:increased expression:serum (human)	PMID:29871592|REF_RGD_ID:15042878
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1550218	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:28051796|REF_RGD_ID:15042880
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:70971	D	RGD:9068941	20200609	RGD		associated with iron overload;protein:increased expression:serum (human)	PMID:29871592|REF_RGD_ID:15042878
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:70971	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:28051796|REF_RGD_ID:15042880
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:736414	D	RGD:9068941	20200609	RGD		associated with iron overload;protein:increased expression:serum (human)	PMID:29871592|REF_RGD_ID:15042878
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:736414	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:28051796|REF_RGD_ID:15042880
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:0111032	hemochromatosis type 2B		ISO	RGD:736414	D	RGD:7240710	20180130	OMIM			
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:0111032	hemochromatosis type 2B		ISO	RGD:736414	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HAMP-related condition | ClinVar Annotator: match by term: HEMOCHROMATOSIS, TYPE 2B | ClinVar Annotator: match by term: Hemochromatosis type 2B | ClinVar Annotator: match by term: hemochromatosis type 2B	PMID:12915468|PMID:15198949|PMID:19214511|PMID:21088809|PMID:25741868|PMID:27007796|PMID:28492532
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:11758	iron deficiency anemia		ISO	RGD:1550218	D	RGD:9068941	20200609	RGD			PMID:17218383|REF_RGD_ID:11041606
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:11758	iron deficiency anemia		ISO	RGD:70971	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:22457245|REF_RGD_ID:11041634
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:736414	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:19652645|REF_RGD_ID:11041639
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:12236	primary biliary cholangitis	treatment	ISO	RGD:70971	D	RGD:9068941	20200609	RGD			PMID:23704825|REF_RGD_ID:11041732
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:12241	beta thalassemia		ISO	RGD:736414	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16755567
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:12241	beta thalassemia		ISO	RGD:736414	D	RGD:9068941	20200609	RGD			PMID:23905873|REF_RGD_ID:11041617
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:12241	beta thalassemia	treatment	ISO	RGD:1550218	D	RGD:9068941	20200609	RGD			PMID:17299088|REF_RGD_ID:11041616
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:1340	pure red-cell aplasia		ISO	RGD:70971	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:25580431|REF_RGD_ID:11041717
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:13608	biliary atresia		ISO	RGD:736414	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16627878
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:70971	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:19652645|REF_RGD_ID:11041639
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:1909	melanoma		ISO	RGD:736414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:2352	hemochromatosis		ISO	RGD:736414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HEMOCHROMATOSIS, JUVENILE, DIGENIC | ClinVar Annotator: match by term: Hereditary hemochromatosis	PMID:12915468|PMID:14630809|PMID:14670915|PMID:15024747|PMID:15099344|PMID:16141345|PMID:17576681|PMID:18809758|PMID:19787796|PMID:21088809|PMID:21411349|PMID:22297252|PMID:22924847|PMID:25741868|PMID:26310624|PMID:26547814|PMID:26799139|PMID:28492532|PMID:33016646|PMID:9536098
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:2355	anemia		ISO	RGD:1550218	D	RGD:9068941	20200609	RGD		associated with Inflammation	PMID:24357729|REF_RGD_ID:11041614
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:2355	anemia		ISO	RGD:70971	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:21411831|REF_RGD_ID:11041773
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:2355	anemia		ISO	RGD:736414	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16434484|PMID:16627556|PMID:24086573
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:2355	anemia		ISO	RGD:736414	D	RGD:9068941	20200609	RGD		associated with Malaria, Falciparum	PMID:22689680|REF_RGD_ID:11041620
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:2355	anemia	treatment	ISO	RGD:70971	D	RGD:9068941	20200609	RGD		associated with Inflammation	PMID:21730356|PMID:24895335|REF_RGD_ID:11041618|REF_RGD_ID:11041619
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:2355	anemia	treatment	ISO	RGD:736414	D	RGD:9068941	20200609	RGD		associated with Multiple Myeloma	PMID:25052873|REF_RGD_ID:11041612
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:70971	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:cerebral cortex, hippocampus, corpus striatum	PMID:21957487|REF_RGD_ID:11041635
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:5844	myocardial infarction		ISO	RGD:70971	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:19615879|REF_RGD_ID:11041636
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:6000	congestive heart failure		ISO	RGD:736414	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, urine	PMID:21080339|REF_RGD_ID:11041621
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:630	genetic disease		ISO	RGD:736414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:783	end stage renal disease		ISO	RGD:70971	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:20631677|REF_RGD_ID:11041611
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:783	end stage renal disease		ISO	RGD:736414	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16929540
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:783	end stage renal disease		ISO	RGD:736414	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19212416|REF_RGD_ID:11041622
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:820	myocarditis		ISO	RGD:736414	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:19615879|REF_RGD_ID:11041636
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:893	Wilson disease		ISO	RGD:736414	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23519153
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:9000099	Experimental Colitis		ISO	RGD:70971	D	RGD:9068941	20200609	RGD		protein:increased expression:colon	PMID:24764672|REF_RGD_ID:11041628
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:736414	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28321044
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:9002311	Experimental Autoimmune Myocarditis		ISO	RGD:70971	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:19615879|REF_RGD_ID:11041636
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:9003936	Cardiomegaly		ISO	RGD:70971	D	RGD:9068941	20200609	RGD			PMID:24424338|REF_RGD_ID:11041632
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:9005099	Salmonella Infections, Animal		ISO	RGD:1550218	D	RGD:9068941	20200609	RGD			PMID:23390527|REF_RGD_ID:11041609
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:9005725	Iron Overload		ISO	RGD:70971	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19524651|REF_RGD_ID:11041720
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:9005725	Iron Overload		ISO	RGD:736414	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20801540|PMID:22659129
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:9005725	Iron Overload		ISO	RGD:736414	D	RGD:9068941	20200609	RGD		associated with Beta-Thalassemia;DNA:SNP:promoter:c.-582A>G (rs10421768) (human)	PMID:19734422|REF_RGD_ID:11041610
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:70971	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hepatocyte	PMID:24373749|REF_RGD_ID:11041724
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:9007692	Insulin Resistance		ISO	RGD:70971	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:17350134|REF_RGD_ID:1601515
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:9008114	Helicobacter Infections	treatment	ISO	RGD:736414	D	RGD:9068941	20200609	RGD			PMID:21757452|REF_RGD_ID:11041721
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:9008550	Vitamin A Deficiency		ISO	RGD:70971	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:19217259|REF_RGD_ID:11041734
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8730269	Hamp	hepcidin antimicrobial peptide	gene	DOID:9775	diastolic heart failure		ISO	RGD:736414	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
8730301	Znf346	zinc finger protein 346	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730301	Znf346	zinc finger protein 346	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8730301	Znf346	zinc finger protein 346	gene	DOID:1909	melanoma		ISO	RGD:1317625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8730301	Znf346	zinc finger protein 346	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730301	Znf346	zinc finger protein 346	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8730301	Znf346	zinc finger protein 346	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730318	Znrf2	zinc and ring finger 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8730318	Znrf2	zinc and ring finger 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730318	Znrf2	zinc and ring finger 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8730318	Znrf2	zinc and ring finger 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730345	Otud7a	OTU deubiquitinase 7A	gene	DOID:0050889	non-syndromic intellectual disability		ISO	RGD:1351552	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Non-syndromic intellectual disability	PMID:25741868
8730345	Otud7a	OTU deubiquitinase 7A	gene	DOID:0060394	chromosome 15q13.3 microdeletion syndrome		ISO	RGD:1620659	D	RGD:9068941	20250724	MouseDO		OMIM:612001	
8730345	Otud7a	OTU deubiquitinase 7A	gene	DOID:10534	stomach cancer		ISO	RGD:1351552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8730345	Otud7a	OTU deubiquitinase 7A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8730345	Otud7a	OTU deubiquitinase 7A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1351552	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8730345	Otud7a	OTU deubiquitinase 7A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8730345	Otud7a	OTU deubiquitinase 7A	gene	DOID:9008303	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES		ISO	RGD:1351552	D	RGD:7240710	20240529	OMIM			
8730345	Otud7a	OTU deubiquitinase 7A	gene	DOID:9008303	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES		ISO	RGD:1351552	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES | ClinVar Annotator: match by term: OTUD7A-related condition	PMID:25741868|PMID:31997314
8730345	Otud7a	OTU deubiquitinase 7A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8730363	Bcl3	BCL3 transcription coactivator	gene	DOID:10534	stomach cancer		ISO	RGD:1314971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8730363	Bcl3	BCL3 transcription coactivator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8730363	Bcl3	BCL3 transcription coactivator	gene	DOID:1936	atherosclerosis		ISO	RGD:1314971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25374339
8730363	Bcl3	BCL3 transcription coactivator	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8730363	Bcl3	BCL3 transcription coactivator	gene	DOID:3275	thymoma		ISO	RGD:1314971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8730363	Bcl3	BCL3 transcription coactivator	gene	DOID:4362	cervical cancer		ISO	RGD:1314971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8730363	Bcl3	BCL3 transcription coactivator	gene	DOID:5041	esophageal cancer		ISO	RGD:1314971	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8730363	Bcl3	BCL3 transcription coactivator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730363	Bcl3	BCL3 transcription coactivator	gene	DOID:649	prion disease	severity	ISO	RGD:1314972	D	RGD:9068941	20201218	RGD			PMID:17573907|REF_RGD_ID:40902830
8730363	Bcl3	BCL3 transcription coactivator	gene	DOID:9003370	Dyslipidemias		ISO	RGD:1314971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29670124
8730363	Bcl3	BCL3 transcription coactivator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730363	Bcl3	BCL3 transcription coactivator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8730375	Znf296	zinc finger protein 296	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730375	Znf296	zinc finger protein 296	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8730375	Znf296	zinc finger protein 296	gene	DOID:4362	cervical cancer		ISO	RGD:1343580	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8730380	Spon1	spondin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8730380	Spon1	spondin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730380	Spon1	spondin 1	gene	DOID:0080600	COVID-19		ISO	RGD:1343453	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8730380	Spon1	spondin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1343453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8730380	Spon1	spondin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8730380	Spon1	spondin 1	gene	DOID:1324	lung cancer		ISO	RGD:1343453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8730380	Spon1	spondin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8730380	Spon1	spondin 1	gene	DOID:3275	thymoma		ISO	RGD:1343453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8730380	Spon1	spondin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343453	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8730380	Spon1	spondin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8730380	Spon1	spondin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730380	Spon1	spondin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8730380	Spon1	spondin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730380	Spon1	spondin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8730423	Tnfsf13b	TNF superfamily member 13b	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730423	Tnfsf13b	TNF superfamily member 13b	gene	DOID:0080600	COVID-19		ISO	RGD:1345205	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8730423	Tnfsf13b	TNF superfamily member 13b	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1557043	D	RGD:9068941	20240425	MouseDO		OMIM:270150	
8730423	Tnfsf13b	TNF superfamily member 13b	gene	DOID:1909	melanoma		ISO	RGD:1345205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8730423	Tnfsf13b	TNF superfamily member 13b	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1557043	D	RGD:9068941	20240425	MouseDO		OMIM:161950	
8730423	Tnfsf13b	TNF superfamily member 13b	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730423	Tnfsf13b	TNF superfamily member 13b	gene	DOID:9008163	Chronic Hepatitis B	treatment	ISO	RGD:1345205	D	RGD:9068941	20200609	RGD			PMID:30660173|REF_RGD_ID:27095888
8730423	Tnfsf13b	TNF superfamily member 13b	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8730449	Cep128	centrosomal protein 128	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730449	Cep128	centrosomal protein 128	gene	DOID:10534	stomach cancer		ISO	RGD:1344060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8730449	Cep128	centrosomal protein 128	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8730449	Cep128	centrosomal protein 128	gene	DOID:1324	lung cancer		ISO	RGD:1344060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8730449	Cep128	centrosomal protein 128	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8730449	Cep128	centrosomal protein 128	gene	DOID:4362	cervical cancer		ISO	RGD:1344060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8730449	Cep128	centrosomal protein 128	gene	DOID:5041	esophageal cancer		ISO	RGD:1344060	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8730449	Cep128	centrosomal protein 128	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8730449	Cep128	centrosomal protein 128	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730449	Cep128	centrosomal protein 128	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730449	Cep128	centrosomal protein 128	gene	DOID:9256	colorectal cancer		ISO	RGD:1344060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8730478	Rbm28	RNA binding motif protein 28	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730478	Rbm28	RNA binding motif protein 28	gene	DOID:0112244	alopecia, neurologic defects, and endocrinopathy syndrome		ISO	RGD:1322736	D	RGD:7240710	20180130	OMIM			
8730478	Rbm28	RNA binding motif protein 28	gene	DOID:0112244	alopecia, neurologic defects, and endocrinopathy syndrome		ISO	RGD:1322736	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANE syndrome | ClinVar Annotator: match by term: RBM28-related condition	PMID:25741868|PMID:28492532
8730478	Rbm28	RNA binding motif protein 28	gene	DOID:10534	stomach cancer		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8730478	Rbm28	RNA binding motif protein 28	gene	DOID:10907	microcephaly		ISO	RGD:1322736	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8730478	Rbm28	RNA binding motif protein 28	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8730478	Rbm28	RNA binding motif protein 28	gene	DOID:1324	lung cancer		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8730478	Rbm28	RNA binding motif protein 28	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8730478	Rbm28	RNA binding motif protein 28	gene	DOID:3275	thymoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8730478	Rbm28	RNA binding motif protein 28	gene	DOID:4362	cervical cancer		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8730478	Rbm28	RNA binding motif protein 28	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8730478	Rbm28	RNA binding motif protein 28	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8730478	Rbm28	RNA binding motif protein 28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730478	Rbm28	RNA binding motif protein 28	gene	DOID:6039	uveal melanoma		ISO	RGD:1322736	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8730478	Rbm28	RNA binding motif protein 28	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8730478	Rbm28	RNA binding motif protein 28	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8730478	Rbm28	RNA binding motif protein 28	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8730478	Rbm28	RNA binding motif protein 28	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730478	Rbm28	RNA binding motif protein 28	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8730478	Rbm28	RNA binding motif protein 28	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: RUNX1-related disorder	
8730526	Samd8	sterile alpha motif domain containing 8	gene	DOID:10534	stomach cancer		ISO	RGD:1315069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8730526	Samd8	sterile alpha motif domain containing 8	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1315069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
8730526	Samd8	sterile alpha motif domain containing 8	gene	DOID:3070	high grade glioma		ISO	RGD:1315069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8730526	Samd8	sterile alpha motif domain containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730539	Igf2bp1	insulin like growth factor 2 mRNA binding protein 1	gene	DOID:0050912	colon adenoma		ISO	RGD:1623845	D	RGD:9068941	20201218	RGD			PMID:26194191|REF_RGD_ID:11086893
8730539	Igf2bp1	insulin like growth factor 2 mRNA binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730539	Igf2bp1	insulin like growth factor 2 mRNA binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1606571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8730539	Igf2bp1	insulin like growth factor 2 mRNA binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1606571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8730539	Igf2bp1	insulin like growth factor 2 mRNA binding protein 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1606571	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8730539	Igf2bp1	insulin like growth factor 2 mRNA binding protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8730539	Igf2bp1	insulin like growth factor 2 mRNA binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8730539	Igf2bp1	insulin like growth factor 2 mRNA binding protein 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606571	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
8730539	Igf2bp1	insulin like growth factor 2 mRNA binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730539	Igf2bp1	insulin like growth factor 2 mRNA binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8730539	Igf2bp1	insulin like growth factor 2 mRNA binding protein 1	gene	DOID:74	hematopoietic system disease		ISO	RGD:1606571	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: therapeutic	PMID:38866309
8730539	Igf2bp1	insulin like growth factor 2 mRNA binding protein 1	gene	DOID:769	neuroblastoma		ISO	RGD:1606571	D	RGD:9068941	20231207	CTD		CTD Direct Evidence: marker/mechanism	PMID:37246217
8730539	Igf2bp1	insulin like growth factor 2 mRNA binding protein 1	gene	DOID:8566	herpes simplex		ISO	RGD:1623845	D	RGD:9068941	20201218	RGD			PMID:30050136|REF_RGD_ID:40902865
8730539	Igf2bp1	insulin like growth factor 2 mRNA binding protein 1	gene	DOID:9001981	Weight Loss		ISO	RGD:1606571	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: therapeutic	PMID:38866309
8730539	Igf2bp1	insulin like growth factor 2 mRNA binding protein 1	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1606571	D	RGD:9068941	20231207	CTD		CTD Direct Evidence: marker/mechanism	PMID:37246217
8730539	Igf2bp1	insulin like growth factor 2 mRNA binding protein 1	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1606571	D	RGD:9068941	20250306	CTD		CTD Direct Evidence: marker/mechanism	PMID:35999615
8730539	Igf2bp1	insulin like growth factor 2 mRNA binding protein 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1606571	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: therapeutic	PMID:34974052
8730562	Cep83	centrosomal protein 83	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730562	Cep83	centrosomal protein 83	gene	DOID:0060340	ciliopathy		ISO	RGD:1606008	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ciliopathy	PMID:25741868|PMID:28492532
8730562	Cep83	centrosomal protein 83	gene	DOID:0111125	nephronophthisis 18		ISO	RGD:1606008	D	RGD:7240710	20180130	OMIM			
8730562	Cep83	centrosomal protein 83	gene	DOID:0111125	nephronophthisis 18		ISO	RGD:1606008	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CEP83-related condition | ClinVar Annotator: match by term: NEPHRONOPHTHISIS 18 | ClinVar Annotator: match by term: Nephronophthisis 18	PMID:16199547|PMID:17576681|PMID:23530209|PMID:24882706|PMID:25741868|PMID:28492532|PMID:30655312|PMID:9536098
8730562	Cep83	centrosomal protein 83	gene	DOID:1115	sarcoma		ISO	RGD:1606008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8730562	Cep83	centrosomal protein 83	gene	DOID:11372	megacolon		ISO	RGD:1606008	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
8730562	Cep83	centrosomal protein 83	gene	DOID:3275	thymoma		ISO	RGD:1606008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8730562	Cep83	centrosomal protein 83	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8730562	Cep83	centrosomal protein 83	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730562	Cep83	centrosomal protein 83	gene	DOID:6039	uveal melanoma		ISO	RGD:1606008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
8730562	Cep83	centrosomal protein 83	gene	DOID:630	genetic disease		ISO	RGD:1606008	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8730562	Cep83	centrosomal protein 83	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8730562	Cep83	centrosomal protein 83	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8730562	Cep83	centrosomal protein 83	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8730620	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730620	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:1115	sarcoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8730620	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:1909	melanoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8730620	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8730620	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8730620	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:5041	esophageal cancer		ISO	RGD:1323490	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8730620	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730620	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8730620	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8730620	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8730620	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730620	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8730635	Hoxd1	homeobox D1	gene	DOID:1909	melanoma		ISO	RGD:1319375	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
8730635	Hoxd1	homeobox D1	gene	DOID:9000641	Pain		ISO	RGD:1319375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21151121
8730635	Hoxd1	homeobox D1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1319375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21151121
8730635	Hoxd1	homeobox D1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1319375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20852632
8730635	Hoxd1	homeobox D1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1319375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17892325
8730643	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730643	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8730643	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8730643	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8730643	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8730643	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:3070	high grade glioma		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8730643	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8730643	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8730643	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8730643	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730643	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8730643	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730643	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8730679	Ampd3	adenosine monophosphate deaminase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8730679	Ampd3	adenosine monophosphate deaminase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730679	Ampd3	adenosine monophosphate deaminase 3	gene	DOID:10534	stomach cancer		ISO	RGD:732010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8730679	Ampd3	adenosine monophosphate deaminase 3	gene	DOID:1115	sarcoma		ISO	RGD:732010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8730679	Ampd3	adenosine monophosphate deaminase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8730679	Ampd3	adenosine monophosphate deaminase 3	gene	DOID:2661	myoepithelioma		ISO	RGD:732010	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8730679	Ampd3	adenosine monophosphate deaminase 3	gene	DOID:3275	thymoma		ISO	RGD:732010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8730679	Ampd3	adenosine monophosphate deaminase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8730679	Ampd3	adenosine monophosphate deaminase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:732010	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8730679	Ampd3	adenosine monophosphate deaminase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730679	Ampd3	adenosine monophosphate deaminase 3	gene	DOID:9006043	Erythrocyte Amp Deaminase Deficiency		ISO	RGD:732010	D	RGD:7240710	20180130	OMIM			
8730679	Ampd3	adenosine monophosphate deaminase 3	gene	DOID:9006043	Erythrocyte Amp Deaminase Deficiency		ISO	RGD:732010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AMPD3-related condition | ClinVar Annotator: match by term: Erythrocyte AMP deaminase deficiency	PMID:25741868|PMID:7881427|PMID:8004104
8730679	Ampd3	adenosine monophosphate deaminase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
8730679	Ampd3	adenosine monophosphate deaminase 3	gene	DOID:9007712	Adenosine Monophosphate Deaminase Deficiency		ISO	RGD:732010	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: adenosine monophosphate deaminase deficiency	PMID:25741868
8730679	Ampd3	adenosine monophosphate deaminase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8730729	Tango6	transport and golgi organization 6 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730729	Tango6	transport and golgi organization 6 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8730729	Tango6	transport and golgi organization 6 homolog	gene	DOID:1909	melanoma		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8730729	Tango6	transport and golgi organization 6 homolog	gene	DOID:2661	myoepithelioma		ISO	RGD:1606243	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8730729	Tango6	transport and golgi organization 6 homolog	gene	DOID:3275	thymoma		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8730729	Tango6	transport and golgi organization 6 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8730729	Tango6	transport and golgi organization 6 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1606243	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8730729	Tango6	transport and golgi organization 6 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730729	Tango6	transport and golgi organization 6 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8730729	Tango6	transport and golgi organization 6 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730729	Tango6	transport and golgi organization 6 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8730729	Tango6	transport and golgi organization 6 homolog	gene	DOID:9256	colorectal cancer		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8730753	Nme6	NME/NM23 nucleoside diphosphate kinase 6	gene	DOID:10534	stomach cancer		ISO	RGD:1604057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8730753	Nme6	NME/NM23 nucleoside diphosphate kinase 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8730753	Nme6	NME/NM23 nucleoside diphosphate kinase 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8730753	Nme6	NME/NM23 nucleoside diphosphate kinase 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8730753	Nme6	NME/NM23 nucleoside diphosphate kinase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730753	Nme6	NME/NM23 nucleoside diphosphate kinase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730753	Nme6	NME/NM23 nucleoside diphosphate kinase 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8730781	E2f4	E2F transcription factor 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8730781	E2f4	E2F transcription factor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730781	E2f4	E2F transcription factor 4	gene	DOID:10754	otitis media		ISO	RGD:1323112	D	RGD:9068941	20220825	MouseDO		OMIM:166760	
8730781	E2f4	E2F transcription factor 4	gene	DOID:1115	sarcoma		ISO	RGD:1323111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8730781	E2f4	E2F transcription factor 4	gene	DOID:1324	lung cancer		ISO	RGD:1323111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8730781	E2f4	E2F transcription factor 4	gene	DOID:1909	melanoma		ISO	RGD:1323111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8730781	E2f4	E2F transcription factor 4	gene	DOID:3275	thymoma		ISO	RGD:1323111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8730781	E2f4	E2F transcription factor 4	gene	DOID:3883	Lynch syndrome		ISO	RGD:1323111	D	RGD:9068941	20220721	RGD		DNA:mutations:cds: (human)	PMID:28218421|REF_RGD_ID:153297765
8730781	E2f4	E2F transcription factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730781	E2f4	E2F transcription factor 4	gene	DOID:9000918	Disease Progression		ISO	RGD:1323111	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29754146
8730781	E2f4	E2F transcription factor 4	gene	DOID:9003566	Mesothelioma		ISO	RGD:1323111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8730781	E2f4	E2F transcription factor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730795	Gja8	gap junction protein alpha 8	gene	DOID:0060411	chromosome 1q21.1 deletion syndrome		ISO	RGD:732563	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome	PMID:25741868
8730795	Gja8	gap junction protein alpha 8	gene	DOID:0060648	anterior segment dysgenesis		ISO	RGD:732563	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Anterior segment dysgenesis	PMID:25741868|PMID:28455998|PMID:32499604|PMID:35980487
8730795	Gja8	gap junction protein alpha 8	gene	DOID:0110231	cataract 1 multiple types		ISO	RGD:732563	D	RGD:7240710	20180130	OMIM			
8730795	Gja8	gap junction protein alpha 8	gene	DOID:0110231	cataract 1 multiple types		ISO	RGD:732563	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CATARACT 1, MULTIPLE TYPES | ClinVar Annotator: match by term: CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: CATARACT 1, ZONULAR PULVERULENT | ClinVar Annotator: match by term: Cataract 1 multiple types | ClinVar Annotator: match by term: Cataract 1, multiple types | ClinVar Annotator: match by term: GJA8-related condition	PMID:10362609|PMID:10480374|PMID:11846744|PMID:12800976|PMID:14627691|PMID:16234473|PMID:16254549|PMID:16397066|PMID:16604058|PMID:16611690|PMID:17110920|PMID:17601931|PMID:17724170|PMID:18003700|PMID:18006672|PMID:18334946|PMID:18334966|PMID:18483562|PMID:18587493|PMID:19073179|PMID:19126675|PMID:19182255|PMID:19331825|PMID:19684000|PMID:1975179|PMID:20019893|PMID:20597646|PMID:20806042|PMID:21174522|PMID:21228318|PMID:21686328|PMID:21779674|PMID:21921990|PMID:23508780|PMID:23555834|PMID:23592913|PMID:23734083|PMID:23832966|PMID:24281366|PMID:24535056|PMID:24968223|PMID:25003127|PMID:25148791|PMID:25260631|PMID:25301372|PMID:25403472|PMID:25517998|PMID:25549162|PMID:25741868|PMID:25970271|PMID:26004348|PMID:26694549|PMID:26996484|PMID:27216975|PMID:27785597|PMID:27878435|PMID:27990357|PMID:28392901|PMID:28455998|PMID:28492532|PMID:28526010|PMID:28530003|PMID:28544770|PMID:28839118|PMID:29434075|PMID:29461140|PMID:29461512|PMID:29464339|PMID:29770612|PMID:30076350|PMID:30078984|PMID:30262699|PMID:30373400|PMID:30450742|PMID:30498267|PMID:30890130|PMID:30928190|PMID:31618082|PMID:31842807|PMID:31844091|PMID:32384692|PMID:32499604|PMID:32830442|PMID:33218330|PMID:33240976|PMID:33494148|PMID:33816482|PMID:33923544|PMID:34014271|PMID:34059112|PMID:34101287|PMID:34169787|PMID:34722561|PMID:35011756|PMID:35120923|PMID:35428228|PMID:35531093|PMID:35726576|PMID:35980487|PMID:36262071|PMID:37367076|PMID:38052906|PMID:40868138|PMID:9497259
8730795	Gja8	gap junction protein alpha 8	gene	DOID:0110233	cataract 27		ISO	RGD:732563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14627691
8730795	Gja8	gap junction protein alpha 8	gene	DOID:10629	microphthalmia		ISO	RGD:732563	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Bilateral microphthalmos | ClinVar Annotator: match by term: Microphthalmia	PMID:23832966|PMID:25741868|PMID:26694549|PMID:28492532|PMID:29464339
8730795	Gja8	gap junction protein alpha 8	gene	DOID:1432	blindness		ISO	RGD:732563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:23832966|PMID:25741868|PMID:26694549|PMID:28492532|PMID:29464339
8730795	Gja8	gap junction protein alpha 8	gene	DOID:630	genetic disease		ISO	RGD:732563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16604058|PMID:24968223|PMID:25517998|PMID:25741868|PMID:26694549|PMID:27785597|PMID:28392901|PMID:28455998|PMID:28492532|PMID:30078984
8730795	Gja8	gap junction protein alpha 8	gene	DOID:83	cataract		ISO	RGD:732563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:21779674|PMID:25741868
8730795	Gja8	gap junction protein alpha 8	gene	DOID:9003799	Cataract Microcornea Syndrome		ISO	RGD:732563	D	RGD:9068941	20250703	CTD		CTD Direct Evidence: marker/mechanism	PMID:16604058
8730795	Gja8	gap junction protein alpha 8	gene	DOID:9007661	Dwarfism		ISO	RGD:732563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:19684000|PMID:21686328|PMID:25741868|PMID:28492532|PMID:32883240
8730800	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730800	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:1324	lung cancer		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8730800	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:1909	melanoma		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8730800	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:3070	high grade glioma		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 2	
8730800	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:3275	thymoma		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8730800	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:4362	cervical cancer		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8730800	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8730800	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602885	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730800	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:6039	uveal melanoma		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8730800	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8730800	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8730800	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730800	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8730800	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8730821	Ogfr	opioid growth factor receptor	gene	DOID:10534	stomach cancer		ISO	RGD:737296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8730821	Ogfr	opioid growth factor receptor	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:737296	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
8730821	Ogfr	opioid growth factor receptor	gene	DOID:1909	melanoma		ISO	RGD:737296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8730821	Ogfr	opioid growth factor receptor	gene	DOID:4362	cervical cancer		ISO	RGD:737296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8730821	Ogfr	opioid growth factor receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730821	Ogfr	opioid growth factor receptor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8730821	Ogfr	opioid growth factor receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730836	Wdr3	WD repeat domain 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8730836	Wdr3	WD repeat domain 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730836	Wdr3	WD repeat domain 3	gene	DOID:0060058	lymphoma		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8730836	Wdr3	WD repeat domain 3	gene	DOID:1115	sarcoma		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8730836	Wdr3	WD repeat domain 3	gene	DOID:1324	lung cancer		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8730836	Wdr3	WD repeat domain 3	gene	DOID:1909	melanoma		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8730836	Wdr3	WD repeat domain 3	gene	DOID:3070	high grade glioma		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8730836	Wdr3	WD repeat domain 3	gene	DOID:3969	papillary thyroid carcinoma	susceptibility	ISO	RGD:1316699	D	RGD:9068941	20200609	RGD		DNA:snps, haplotype:introns: c.500+239G>A, c.*1-2382A>C (rs3765501, rs4658973) (human)	PMID:20578902|REF_RGD_ID:11041898
8730836	Wdr3	WD repeat domain 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8730836	Wdr3	WD repeat domain 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316699	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8730836	Wdr3	WD repeat domain 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316699	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8730836	Wdr3	WD repeat domain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730836	Wdr3	WD repeat domain 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8730836	Wdr3	WD repeat domain 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8730836	Wdr3	WD repeat domain 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8730836	Wdr3	WD repeat domain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8730836	Wdr3	WD repeat domain 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8730876	Cul4a	cullin 4A	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1351332	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25811541
8730876	Cul4a	cullin 4A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730876	Cul4a	cullin 4A	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1351332	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
8730876	Cul4a	cullin 4A	gene	DOID:10534	stomach cancer		ISO	RGD:1351332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8730876	Cul4a	cullin 4A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8730876	Cul4a	cullin 4A	gene	DOID:1115	sarcoma		ISO	RGD:1351332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8730876	Cul4a	cullin 4A	gene	DOID:1324	lung cancer		ISO	RGD:1351332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8730876	Cul4a	cullin 4A	gene	DOID:1909	melanoma		ISO	RGD:1351332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8730876	Cul4a	cullin 4A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8730876	Cul4a	cullin 4A	gene	DOID:4362	cervical cancer		ISO	RGD:1351332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8730876	Cul4a	cullin 4A	gene	DOID:5041	esophageal cancer		ISO	RGD:1351332	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8730876	Cul4a	cullin 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730876	Cul4a	cullin 4A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8730900	Slc5a12	solute carrier family 5 member 12	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8730900	Slc5a12	solute carrier family 5 member 12	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8730900	Slc5a12	solute carrier family 5 member 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1345162	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8730900	Slc5a12	solute carrier family 5 member 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730900	Slc5a12	solute carrier family 5 member 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8730919	Slc15a1	solute carrier family 15 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730919	Slc15a1	solute carrier family 15 member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8730919	Slc15a1	solute carrier family 15 member 1	gene	DOID:1324	lung cancer		ISO	RGD:730868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8730919	Slc15a1	solute carrier family 15 member 1	gene	DOID:4362	cervical cancer		ISO	RGD:730868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8730919	Slc15a1	solute carrier family 15 member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:730868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8730919	Slc15a1	solute carrier family 15 member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:730868	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8730919	Slc15a1	solute carrier family 15 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730919	Slc15a1	solute carrier family 15 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8730919	Slc15a1	solute carrier family 15 member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:730868	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:0070191	autosomal recessive chronic granulomatous disease 2		ISO	RGD:1348698	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	PMID:18546332|PMID:25741868
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:0070192	autosomal recessive chronic granulomatous disease 1		ISO	RGD:1348698	D	RGD:7240710	20180130	OMIM			
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:0070192	autosomal recessive chronic granulomatous disease 1		ISO	RGD:1348698	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Chronic granulomatous disease 1, autosomal recessive | ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1	PMID:11920901|PMID:24446915|PMID:25741868|PMID:33746979
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:0110310	hypertrophic cardiomyopathy 4		ISO	RGD:1348698	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4	
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:10763	hypertension		ISO	RGD:1348698	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:16331104|PMID:17324946|PMID:19018797|PMID:32165127
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:10825	essential hypertension		ISO	RGD:1348698	D	RGD:9068941	20221110	CTD		CTD Direct Evidence: marker/mechanism	PMID:34453990
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:10941	intracranial aneurysm		ISO	RGD:1348698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19381132
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1348698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1348698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28135245
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:1928	Williams-Beuren syndrome		ISO	RGD:1348698	D	RGD:9068941	20200609	RGD		DNA:deletion	PMID:16532385|REF_RGD_ID:1624399
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:3265	chronic granulomatous disease		ISO	RGD:1348698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic granulomatous disease	
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:630	genetic disease		ISO	RGD:1348698	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1348698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12833524|PMID:28135245
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:7148	rheumatoid arthritis	induces	ISO	XCO:0000263	D	RGD:9068941	20210212	RGD		DNA:polymorphism:M153T (rat)	PMID:21275845|REF_RGD_ID:41404729
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:1348698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16864727
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:783	end stage renal disease		ISO	RGD:1348698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19420110
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1348698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14871415
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:9002395	Hypothermia		ISO	RGD:1348698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:30366073
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:9002457	Experimental Arthritis	severity	ISO	RGD:61307	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.M106V, p.M153T (rat)	PMID:12461526|REF_RGD_ID:628543
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1348698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14871415|PMID:16380483
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1348698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21742780
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1348698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28135245
8730951	Ncf1	neutrophil cytosolic factor 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:1348698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23723366
8730971	Znf467	zinc finger protein 467	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730971	Znf467	zinc finger protein 467	gene	DOID:0060058	lymphoma		ISO	RGD:1350118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8730971	Znf467	zinc finger protein 467	gene	DOID:4362	cervical cancer		ISO	RGD:1350118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8730971	Znf467	zinc finger protein 467	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8730998	Mid2	midline 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8730998	Mid2	midline 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8730998	Mid2	midline 2	gene	DOID:0112048	non-syndromic X-linked intellectual disability 101		ISO	RGD:1602493	D	RGD:7240710	20180130	OMIM			
8730998	Mid2	midline 2	gene	DOID:0112048	non-syndromic X-linked intellectual disability 101		ISO	RGD:1602493	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Intellectual disability, X-linked 101	PMID:25741868
8730998	Mid2	midline 2	gene	DOID:10534	stomach cancer		ISO	RGD:1602493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8730998	Mid2	midline 2	gene	DOID:1059	intellectual disability		ISO	RGD:1602493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868
8730998	Mid2	midline 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8730998	Mid2	midline 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:0050591	tooth agenesis		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypodontia	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:0060238	Van Maldergem syndrome		ISO	RGD:1342504	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Van Maldergem syndrome	PMID:24033266|PMID:24056717|PMID:24913602|PMID:28492532
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:0060260	ptosis		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28492532|PMID:31384091
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:0060321	umbilical hernia		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:0060366	Hennekam syndrome		ISO	RGD:1342504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:0060673	Peters anomaly		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis	PMID:26893459|PMID:28492532|PMID:28714244
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1342504	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract	PMID:25741868|PMID:28492532|PMID:28878612|PMID:30143558
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:0080586	Van Maldergem syndrome 2		ISO	RGD:1342504	D	RGD:7240710	20180130	OMIM			
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:0080586	Van Maldergem syndrome 2		ISO	RGD:1342504	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FAT4-related condition | ClinVar Annotator: match by term: VAN MALDERGEM SYNDROME 2 | ClinVar Annotator: match by term: Van Maldergem syndrome 2	PMID:24056717|PMID:24913602|PMID:25741868|PMID:28492532|PMID:28878612|PMID:30143558|PMID:31384091
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:10488	imperforate anus		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imperforate anus	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:10907	microcephaly		ISO	RGD:1342504	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:1115	sarcoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:11383	cryptorchidism		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:28492532|PMID:31384091
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:13714	anodontia		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypodontia	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:1657	ventricular septal defect		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:1686	glaucoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:28492532|PMID:31384091
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:1909	melanoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:2975	cystic kidney disease		ISO	RGD:1342504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18604206
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:299	adenocarcinoma		ISO	RGD:1342504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22484628
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	PMID:28492532
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:3144	cutis laxa		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:25741868|PMID:28492532|PMID:31384091
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:3275	thymoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1342504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151357
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:4977	lymphedema		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphedema	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1342504	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:6132	bronchitis		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent bronchitis	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:630	genetic disease		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:674	cleft palate		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:83	cataract		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1342504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22484628
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9000495	Tremor		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9001031	Retrognathia		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9001947	Hennekam Lymphangiectasia-Lymphedema Syndrome 2		ISO	RGD:1342504	D	RGD:7240710	20180130	OMIM			
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9001947	Hennekam Lymphangiectasia-Lymphedema Syndrome 2		ISO	RGD:1342504	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 | ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 2	PMID:25741868|PMID:28492532|PMID:28878612|PMID:29302074|PMID:30143558
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:25741868|PMID:28492532|PMID:31384091
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9002205	Periventricular Nodular Heterotopia 2		ISO	RGD:1342504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24056717
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9003133	Hypertelorism		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532|PMID:31384091
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868|PMID:28492532|PMID:31384091
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9003821	Hennekam Lymphangiectasia-Lymphedema Syndrome 1		ISO	RGD:1342504	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1	PMID:25741868
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532|PMID:28878612|PMID:30143558
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9004538	Hearing Loss		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9005077	Joint Instability		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:25741868|PMID:28492532|PMID:28878612|PMID:30143558|PMID:31384091
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868|PMID:28492532|PMID:31384091
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532|PMID:31384091
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9005616	Micrognathism		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28492532|PMID:31384091
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Right ventricular hypertrophy	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532|PMID:31384091
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:31384091
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9008660	Infantile Capillary Hemangioma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Capillary infantile hemangioma	PMID:25741868
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:28492532|PMID:31384091
8731034	Fat4	FAT atypical cadherin 4	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus	
8731061	Cckar	cholecystokinin A receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8731061	Cckar	cholecystokinin A receptor	gene	DOID:10211	cholelithiasis		ISO	RGD:731770	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA:decreased expression:gallbladder,smooth muscle	PMID:15908333|REF_RGD_ID:2314139
8731061	Cckar	cholecystokinin A receptor	gene	DOID:1574	alcohol use disorder		ISO	RGD:731770	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9922984
8731061	Cckar	cholecystokinin A receptor	gene	DOID:1793	pancreatic cancer		ISO	RGD:2289	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas	PMID:8222074|REF_RGD_ID:4110822
8731061	Cckar	cholecystokinin A receptor	gene	DOID:1793	pancreatic cancer		ISO	RGD:731770	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas	PMID:10457335|REF_RGD_ID:4110817
8731061	Cckar	cholecystokinin A receptor	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:731770	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreatic duct	PMID:9239407|REF_RGD_ID:4110818
8731061	Cckar	cholecystokinin A receptor	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:731770	D	RGD:9068941	20200609	RGD		protein:decreased expression:pancreas	PMID:12851875|REF_RGD_ID:4110816
8731061	Cckar	cholecystokinin A receptor	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:731770	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25025063
8731061	Cckar	cholecystokinin A receptor	gene	DOID:9003126	Hallucinations		ISO	RGD:731770	D	RGD:9068941	20200609	RGD		associated with Parkinson Disease;DNA:polymorphism, haplotype: :779T>C (human)	PMID:12777967|REF_RGD_ID:1625802
8731061	Cckar	cholecystokinin A receptor	gene	DOID:9003126	Hallucinations		ISO	RGD:731770	D	RGD:9068941	20200609	RGD		associated with Schizophrenia	PMID:10572328|REF_RGD_ID:1358451
8731061	Cckar	cholecystokinin A receptor	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2289	D	RGD:9068941	20200609	RGD		DNA:deletion	PMID:16815799|REF_RGD_ID:1625200
8731061	Cckar	cholecystokinin A receptor	gene	DOID:9970	obesity		ISO	RGD:2289	D	RGD:9068941	20200609	RGD		DNA:deletion	PMID:9530226|REF_RGD_ID:7257724
8731061	Cckar	cholecystokinin A receptor	gene	DOID:9970	obesity		ISO	RGD:731770	D	RGD:9068941	20200609	RGD			PMID:9192855|REF_RGD_ID:734711
8731070	Igsf6	immunoglobulin superfamily member 6	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1343123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
8731070	Igsf6	immunoglobulin superfamily member 6	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1343123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8731080	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8731080	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:0060058	lymphoma		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8731080	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8731080	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8731080	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:2349	arteriosclerosis		ISO	RGD:1552173	D	RGD:9068941	20200609	RGD			PMID:16675724|REF_RGD_ID:1601111
8731080	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:3275	thymoma		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8731080	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1354229	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :41A>G, 734C>T, IVS4-57_58ins48bp	PMID:16195894|REF_RGD_ID:1601112
8731080	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8731080	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354229	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8731080	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731080	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8731080	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1552173	D	RGD:9068941	20200609	RGD			PMID:11100118|REF_RGD_ID:1556516
8731080	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:9006646	Metabolic Syndrome	susceptibility	ISO	RGD:1354229	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:14557872|REF_RGD_ID:1581921
8731080	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8731080	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:9007685	Cytosolic Acetoacetyl-CoA Thiolase Deficiency		ISO	RGD:1354229	D	RGD:7240710	20180130	OMIM			
8731080	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:9007685	Cytosolic Acetoacetyl-CoA Thiolase Deficiency		ISO	RGD:1354229	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Acetyl-CoA acetyltransferase-2 deficiency	PMID:25741868
8731107	Hfe	homeostatic iron regulator	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1345296	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:16880463|PMID:16979952|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897
8731107	Hfe	homeostatic iron regulator	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1345296	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:16880463|PMID:16979952|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897
8731107	Hfe	homeostatic iron regulator	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1345296	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:16880463|PMID:16979952|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897
8731107	Hfe	homeostatic iron regulator	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1345296	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897
8731107	Hfe	homeostatic iron regulator	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1345296	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:10381492|PMID:10401000|PMID:10431233|PMID:10575540|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11903354|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27518069|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897
8731107	Hfe	homeostatic iron regulator	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1345296	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:10381492|PMID:10401000|PMID:10431233|PMID:10575540|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11903354|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27518069|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:37260121|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897
8731107	Hfe	homeostatic iron regulator	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1345296	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:10381492|PMID:10575540|PMID:11040194|PMID:11812557|PMID:11903354|PMID:12542741|PMID:12693884|PMID:12707220|PMID:15254010|PMID:15858186|PMID:16132052|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27518069|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:37260121|PMID:8696333|PMID:8931958|PMID:9162021|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9462220
8731107	Hfe	homeostatic iron regulator	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:10953950|PMID:12537660|PMID:12681966|PMID:12952143|PMID:15025725|PMID:15477198|PMID:19214108|PMID:19759876|PMID:19787796|PMID:21228038|PMID:25741868|PMID:26456104|PMID:28492532|PMID:29084376|PMID:29590070|PMID:34426522|PMID:35895739|PMID:36096187|PMID:38980801
8731107	Hfe	homeostatic iron regulator	gene	DOID:0050700	cardiomyopathy	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation: :p.H63D (human)	PMID:23861158|REF_RGD_ID:10755538
8731107	Hfe	homeostatic iron regulator	gene	DOID:0050700	cardiomyopathy	treatment	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation: :p.C282Y (human)	PMID:23861158|REF_RGD_ID:10755538
8731107	Hfe	homeostatic iron regulator	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1345296	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17001480
8731107	Hfe	homeostatic iron regulator	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.H63D, p.C282Y (human)	PMID:12624489|REF_RGD_ID:10755559
8731107	Hfe	homeostatic iron regulator	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1345296	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20808228
8731107	Hfe	homeostatic iron regulator	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:2793	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver, Kupffer cell (rat)	PMID:18599584|REF_RGD_ID:8694397
8731107	Hfe	homeostatic iron regulator	gene	DOID:0080177	hepatic veno-occlusive disease	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C282Y (human)	PMID:15834437|REF_RGD_ID:8694354
8731107	Hfe	homeostatic iron regulator	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:CDS:p.H63D	PMID:11473047|REF_RGD_ID:1601452
8731107	Hfe	homeostatic iron regulator	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C282Y (human)	PMID:9453491|REF_RGD_ID:8694420
8731107	Hfe	homeostatic iron regulator	gene	DOID:0080348	Alzheimer's disease 1		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Alzheimer disease type 1	PMID:10953950|PMID:11875012|PMID:12537660|PMID:12681966|PMID:12952143|PMID:15025725|PMID:15477198|PMID:17240320|PMID:17576681|PMID:19214108|PMID:19759876|PMID:19787796|PMID:21228038|PMID:25741868|PMID:26456104|PMID:27518069|PMID:28492532|PMID:29084376|PMID:29590070|PMID:34426522|PMID:35895739|PMID:36096187|PMID:38980801|PMID:9536098
8731107	Hfe	homeostatic iron regulator	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1345296	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:10381492|PMID:10575540|PMID:11040194|PMID:11812557|PMID:11903354|PMID:12542741|PMID:12693884|PMID:12707220|PMID:15254010|PMID:15858186|PMID:16132052|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27518069|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:37260121|PMID:8696333|PMID:8931958|PMID:9162021|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9462220
8731107	Hfe	homeostatic iron regulator	gene	DOID:0111029	hemochromatosis type 1		ISO	RGD:1345296	D	RGD:7240710	20230816	OMIM			
8731107	Hfe	homeostatic iron regulator	gene	DOID:0111029	hemochromatosis type 1		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HEMOCHROMATOSIS, TYPE 1 | ClinVar Annotator: match by term: HFE-related condition | ClinVar Annotator: match by term: Hemochromatosis type 1	PMID:10401000|PMID:10575540|PMID:10930379|PMID:10953950|PMID:11875012|PMID:12537660|PMID:12681966|PMID:12737937|PMID:12952143|PMID:15025725|PMID:15477198|PMID:15965644|PMID:17240320|PMID:17576681|PMID:19214108|PMID:19759876|PMID:19787796|PMID:20722017|PMID:21228038|PMID:25741868|PMID:25850353|PMID:26456104|PMID:27518069|PMID:28492532|PMID:29084376|PMID:29590070|PMID:33791166|PMID:34426522|PMID:35895739|PMID:36096187|PMID:38980801|PMID:9536098
8731107	Hfe	homeostatic iron regulator	gene	DOID:0111034	hemochromatosis type 2		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Juvenile hemochromatosis	PMID:10348824|PMID:16199547|PMID:25741868|PMID:27518069|PMID:28492532
8731107	Hfe	homeostatic iron regulator	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10953950|PMID:12537660|PMID:12681966|PMID:12952143|PMID:15025725|PMID:15477198|PMID:19214108|PMID:19759876|PMID:19787796|PMID:21228038|PMID:25741868|PMID:26456104|PMID:28492532|PMID:29084376|PMID:29590070|PMID:34426522|PMID:35895739|PMID:36096187|PMID:38980801
8731107	Hfe	homeostatic iron regulator	gene	DOID:10247	pleurisy		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pleuritis	PMID:10953950|PMID:12537660|PMID:12681966|PMID:12952143|PMID:15025725|PMID:15477198|PMID:19214108|PMID:19759876|PMID:19787796|PMID:21228038|PMID:25741868|PMID:26456104|PMID:28492532|PMID:29084376|PMID:29590070|PMID:34426522|PMID:35895739|PMID:36096187|PMID:38980801
8731107	Hfe	homeostatic iron regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1345296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:11875012|PMID:17240320|PMID:17576681|PMID:25741868|PMID:26456104|PMID:27518069|PMID:28492532|PMID:9536098
8731107	Hfe	homeostatic iron regulator	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1345296	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:15060098|PMID:17047092
8731107	Hfe	homeostatic iron regulator	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1345296	D	RGD:9068941	20250724	RGD		with Tf C2 variant;DNA:missense mutation:cds:p.C282Y (human)	PMID:15060098|REF_RGD_ID:1358657
8731107	Hfe	homeostatic iron regulator	gene	DOID:11476	osteoporosis		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:10953950|PMID:12537660|PMID:12681966|PMID:12952143|PMID:15025725|PMID:15477198|PMID:19214108|PMID:19759876|PMID:19787796|PMID:21228038|PMID:25741868|PMID:26456104|PMID:28492532|PMID:29084376|PMID:29590070|PMID:34426522|PMID:35895739|PMID:36096187|PMID:38980801
8731107	Hfe	homeostatic iron regulator	gene	DOID:11713	diabetic angiopathy		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 7	PMID:10953950|PMID:11875012|PMID:12537660|PMID:12681966|PMID:12952143|PMID:15025725|PMID:15477198|PMID:17240320|PMID:17576681|PMID:19214108|PMID:19759876|PMID:19787796|PMID:21228038|PMID:25741868|PMID:26456104|PMID:27518069|PMID:28492532|PMID:29084376|PMID:29590070|PMID:34426522|PMID:35895739|PMID:36096187|PMID:38980801|PMID:9536098
8731107	Hfe	homeostatic iron regulator	gene	DOID:11758	iron deficiency anemia		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with celiac disease;DNA:missense mutations: :p.H63D, p.C282Y (human)	PMID:29194702|REF_RGD_ID:14701052
8731107	Hfe	homeostatic iron regulator	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:10348824|PMID:16199547|PMID:25741868|PMID:27518069|PMID:28492532
8731107	Hfe	homeostatic iron regulator	gene	DOID:12241	beta thalassemia		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD			PMID:14703689|REF_RGD_ID:10755489
8731107	Hfe	homeostatic iron regulator	gene	DOID:12241	beta thalassemia		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.C282Y (human)	PMID:17160266|REF_RGD_ID:10755537
8731107	Hfe	homeostatic iron regulator	gene	DOID:12241	beta thalassemia	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutations: :p.H63D, p.S65C (human)	PMID:17160266|REF_RGD_ID:10755537
8731107	Hfe	homeostatic iron regulator	gene	DOID:12849	autistic disorder		ISO	RGD:1345296	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:10381492|PMID:10575540|PMID:11040194|PMID:11812557|PMID:11903354|PMID:12542741|PMID:12693884|PMID:12707220|PMID:15254010|PMID:15858186|PMID:16132052|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27518069|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:37260121|PMID:8696333|PMID:8931958|PMID:9162021|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9462220
8731107	Hfe	homeostatic iron regulator	gene	DOID:12930	dilated cardiomyopathy	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD			PMID:11040018|REF_RGD_ID:1582687
8731107	Hfe	homeostatic iron regulator	gene	DOID:13580	cholestasis		ISO	RGD:1345296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:25741868|PMID:28492532
8731107	Hfe	homeostatic iron regulator	gene	DOID:14330	Parkinson's disease		ISO	RGD:1345296	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16824219
8731107	Hfe	homeostatic iron regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:1345296	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis	PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12429850|PMID:12885340|PMID:14673107|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16880463|PMID:16979952|PMID:17600748|PMID:18199861|PMID:18566337|PMID:19159930|PMID:19554541|PMID:19560233|PMID:20301613|PMID:21243428|PMID:21349849|PMID:23429074|PMID:24033266|PMID:24729993|PMID:25741868|PMID:26365338|PMID:26975792|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31220083|PMID:31980526|PMID:8696333|PMID:8896550|PMID:8943161|PMID:9106528|PMID:9162021|PMID:9356458|PMID:9462220
8731107	Hfe	homeostatic iron regulator	gene	DOID:1485	cystic fibrosis	severity	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutations: :p.H63D, p.C282Y (human)	PMID:30291871|REF_RGD_ID:14701045
8731107	Hfe	homeostatic iron regulator	gene	DOID:1612	breast cancer	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutations, haplotype:cds:p.H63D, p.S65C, p.C282Y (human)	PMID:15894659|REF_RGD_ID:8694349
8731107	Hfe	homeostatic iron regulator	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C282Y (human)	PMID:14973098|REF_RGD_ID:8694348
8731107	Hfe	homeostatic iron regulator	gene	DOID:1875	impotence		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Erectile dysfunction	PMID:10953950|PMID:12537660|PMID:12681966|PMID:12952143|PMID:15025725|PMID:15477198|PMID:19214108|PMID:19759876|PMID:19787796|PMID:21228038|PMID:25741868|PMID:26456104|PMID:28492532|PMID:29084376|PMID:29590070|PMID:34426522|PMID:35895739|PMID:36096187|PMID:38980801
8731107	Hfe	homeostatic iron regulator	gene	DOID:1883	hepatitis C		ISO	RGD:1345296	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15865084
8731107	Hfe	homeostatic iron regulator	gene	DOID:2351	iron metabolism disease		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Iron metabolism disease	PMID:10953950|PMID:12537660|PMID:12681966|PMID:12952143|PMID:15025725|PMID:15477198|PMID:19214108|PMID:19759876|PMID:19787796|PMID:21228038|PMID:25741868|PMID:26456104|PMID:28492532|PMID:29084376|PMID:29590070|PMID:34426522|PMID:35895739|PMID:36096187|PMID:38980801
8731107	Hfe	homeostatic iron regulator	gene	DOID:2352	hemochromatosis		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HFE INTRONIC POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis	PMID:10381492|PMID:10557317|PMID:10930379|PMID:10953950|PMID:11875012|PMID:12537660|PMID:12542741|PMID:12681966|PMID:12952143|PMID:15025725|PMID:15324319|PMID:15477198|PMID:16199547|PMID:17240320|PMID:17576681|PMID:18042412|PMID:18762941|PMID:19214108|PMID:19759876|PMID:19787796|PMID:21228038|PMID:21411349|PMID:24920245|PMID:25741868|PMID:26456104|PMID:27518069|PMID:28492532|PMID:29084376|PMID:29590070|PMID:34426522|PMID:35895739|PMID:36096187|PMID:38980801|PMID:9482913|PMID:9536098
8731107	Hfe	homeostatic iron regulator	gene	DOID:2394	ovarian cancer	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.H63D (human)	PMID:16216474|REF_RGD_ID:8694371
8731107	Hfe	homeostatic iron regulator	gene	DOID:3132	porphyria cutanea tarda		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY	PMID:10953950|PMID:11875012|PMID:12537660|PMID:12681966|PMID:12952143|PMID:15025725|PMID:15477198|PMID:17240320|PMID:17576681|PMID:19214108|PMID:19759876|PMID:19787796|PMID:21228038|PMID:25741868|PMID:26456104|PMID:27518069|PMID:28492532|PMID:29084376|PMID:29590070|PMID:34426522|PMID:35895739|PMID:36096187|PMID:38980801|PMID:9536098
8731107	Hfe	homeostatic iron regulator	gene	DOID:3132	porphyria cutanea tarda	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.C282Y, p.H63D (human)	PMID:17137171|REF_RGD_ID:8694367
8731107	Hfe	homeostatic iron regulator	gene	DOID:3132	porphyria cutanea tarda	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20230817	RGD		DNA:missense mutations:cds:p.C282Y, p.H63D (human)	PMID:19001803|REF_RGD_ID:8694347
8731107	Hfe	homeostatic iron regulator	gene	DOID:3393	coronary artery disease	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD			PMID:12746412|REF_RGD_ID:1582673
8731107	Hfe	homeostatic iron regulator	gene	DOID:3407	carotid artery disease	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD			PMID:16886838|REF_RGD_ID:1582684
8731107	Hfe	homeostatic iron regulator	gene	DOID:341	peripheral vascular disease	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD			PMID:15175819|REF_RGD_ID:1582671
8731107	Hfe	homeostatic iron regulator	gene	DOID:3571	liver cancer		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Liver cancer	PMID:10953950|PMID:12537660|PMID:12681966|PMID:12952143|PMID:15025725|PMID:15477198|PMID:19214108|PMID:19759876|PMID:19787796|PMID:21228038|PMID:25741868|PMID:26456104|PMID:28492532|PMID:29084376|PMID:29590070|PMID:34426522|PMID:35895739|PMID:36096187|PMID:38980801
8731107	Hfe	homeostatic iron regulator	gene	DOID:409	liver disease		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.C282Y (rs1800562) (human)	PMID:30651232|REF_RGD_ID:14746965
8731107	Hfe	homeostatic iron regulator	gene	DOID:4346	variegate porphyria		ISO	RGD:1345296	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: PPOX deficiency | ClinVar Annotator: match by term: VARIEGATE PORPHYRIA	PMID:10381492|PMID:10575540|PMID:11040194|PMID:11812557|PMID:11875012|PMID:11903354|PMID:12542741|PMID:12693884|PMID:12707220|PMID:15254010|PMID:15858186|PMID:16132052|PMID:17240320|PMID:17389307|PMID:17450498|PMID:17576681|PMID:17828789|PMID:18199861|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26456104|PMID:27124787|PMID:27518069|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:37260121|PMID:8696333|PMID:8931958|PMID:9162021|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9462220|PMID:9536098
8731107	Hfe	homeostatic iron regulator	gene	DOID:4346	variegate porphyria		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PPOX deficiency	PMID:10953950|PMID:11875012|PMID:12537660|PMID:12681966|PMID:12952143|PMID:15025725|PMID:15477198|PMID:17240320|PMID:17576681|PMID:19214108|PMID:19759876|PMID:19787796|PMID:21228038|PMID:25741868|PMID:26456104|PMID:27518069|PMID:28492532|PMID:29084376|PMID:29590070|PMID:34426522|PMID:35895739|PMID:36096187|PMID:38980801|PMID:9536098
8731107	Hfe	homeostatic iron regulator	gene	DOID:4971	myelofibrosis	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human)	PMID:19258483|REF_RGD_ID:10755491
8731107	Hfe	homeostatic iron regulator	gene	DOID:4971	myelofibrosis	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human)	PMID:19258483|REF_RGD_ID:10755491
8731107	Hfe	homeostatic iron regulator	gene	DOID:5082	liver cirrhosis		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutations: :p.H63D, p.C282Y (human)	PMID:27816425|REF_RGD_ID:14701047
8731107	Hfe	homeostatic iron regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731107	Hfe	homeostatic iron regulator	gene	DOID:5844	myocardial infarction	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD			PMID:12850485|REF_RGD_ID:1582672
8731107	Hfe	homeostatic iron regulator	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD			PMID:10491370|REF_RGD_ID:1582697
8731107	Hfe	homeostatic iron regulator	gene	DOID:6000	congestive heart failure		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congestive heart failure	PMID:10953950|PMID:12537660|PMID:12681966|PMID:12952143|PMID:15025725|PMID:15477198|PMID:19214108|PMID:19759876|PMID:19787796|PMID:21228038|PMID:25741868|PMID:26456104|PMID:28492532|PMID:29084376|PMID:29590070|PMID:34426522|PMID:35895739|PMID:36096187|PMID:38980801
8731107	Hfe	homeostatic iron regulator	gene	DOID:630	genetic disease		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8731107	Hfe	homeostatic iron regulator	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C282Y (human)	PMID:16047841|REF_RGD_ID:8694357
8731107	Hfe	homeostatic iron regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:11875012|PMID:17240320|PMID:17576681|PMID:25741868|PMID:26456104|PMID:27518069|PMID:28492532|PMID:9536098
8731107	Hfe	homeostatic iron regulator	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD			PMID:29642405|REF_RGD_ID:14746967
8731107	Hfe	homeostatic iron regulator	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1345296	D	RGD:9068941	20260709	RGD		DNA:missense mutation: :p.C282Y (rs1800562) (human)	PMID:30651232|REF_RGD_ID:14746965
8731107	Hfe	homeostatic iron regulator	gene	DOID:8398	osteoarthritis		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.C282Y (rs1800562) (human)	PMID:30651232|REF_RGD_ID:14746965
8731107	Hfe	homeostatic iron regulator	gene	DOID:8437	intestinal obstruction		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with cystic fibrosis;DNA:missense mutation: :p.H63D (human)	PMID:30291871|REF_RGD_ID:14701045
8731107	Hfe	homeostatic iron regulator	gene	DOID:8466	retinal degeneration		ISO	RGD:736272	D	RGD:9068941	20200609	RGD			PMID:19715555|REF_RGD_ID:8694351
8731107	Hfe	homeostatic iron regulator	gene	DOID:853	polymyalgia rheumatica		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.C282Y (rs1800562) (human)	PMID:30657865|REF_RGD_ID:14746966
8731107	Hfe	homeostatic iron regulator	gene	DOID:8778	Crohn's disease	treatment	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2071303 (human)	PMID:27115882|REF_RGD_ID:14701051
8731107	Hfe	homeostatic iron regulator	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.C282Y (human)	PMID:15347835|REF_RGD_ID:8694362
8731107	Hfe	homeostatic iron regulator	gene	DOID:8997	polycythemia vera	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human)	PMID:19258483|REF_RGD_ID:10755491
8731107	Hfe	homeostatic iron regulator	gene	DOID:8997	polycythemia vera	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human)	PMID:19258483|REF_RGD_ID:10755491
8731107	Hfe	homeostatic iron regulator	gene	DOID:9000300	Refractory Anemia		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with Thrombocytosis;DNA:missense mutation: :p.C282Y (human)	PMID:17654685|REF_RGD_ID:10755539
8731107	Hfe	homeostatic iron regulator	gene	DOID:9000300	Refractory Anemia	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with Thrombocytosis;DNA:missense mutation: :p.H63D (human)	PMID:17654685|REF_RGD_ID:10755539
8731107	Hfe	homeostatic iron regulator	gene	DOID:9001934	Neonatal Sepsis		ISO	RGD:1345296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal sepsis	PMID:25741868|PMID:28492532
8731107	Hfe	homeostatic iron regulator	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.C282Y (human)	PMID:15347835|REF_RGD_ID:8694362
8731107	Hfe	homeostatic iron regulator	gene	DOID:9002720	Splenomegaly		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:10953950|PMID:12537660|PMID:12681966|PMID:12952143|PMID:15025725|PMID:15477198|PMID:19214108|PMID:19759876|PMID:19787796|PMID:21228038|PMID:25741868|PMID:26456104|PMID:28492532|PMID:29084376|PMID:29590070|PMID:34426522|PMID:35895739|PMID:36096187|PMID:38980801
8731107	Hfe	homeostatic iron regulator	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	PMID:10953950|PMID:12537660|PMID:12681966|PMID:12952143|PMID:15025725|PMID:15477198|PMID:19214108|PMID:19759876|PMID:19787796|PMID:21228038|PMID:25741868|PMID:26456104|PMID:28492532|PMID:29084376|PMID:29590070|PMID:34426522|PMID:35895739|PMID:36096187|PMID:38980801
8731107	Hfe	homeostatic iron regulator	gene	DOID:9003996	Birth Weight		ISO	RGD:1345296	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20659343
8731107	Hfe	homeostatic iron regulator	gene	DOID:9004272	Varicose Ulcer	onset	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with Chronic Venous Disease;DNA:missense mutation:cds:p.H63D (human)	PMID:16678024|REF_RGD_ID:8694379
8731107	Hfe	homeostatic iron regulator	gene	DOID:9004272	Varicose Ulcer	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with Chronic Venous Disease;DNA:missense mutation:cds:p.C282Y (human)	PMID:16102632|REF_RGD_ID:1582685
8731107	Hfe	homeostatic iron regulator	gene	DOID:9004866	Ataxia		ISO	RGD:1345296	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:10381492|PMID:10575540|PMID:11040194|PMID:11812557|PMID:11903354|PMID:12542741|PMID:12693884|PMID:12707220|PMID:15254010|PMID:15858186|PMID:16132052|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27518069|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:37260121|PMID:8696333|PMID:8931958|PMID:9162021|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9462220
8731107	Hfe	homeostatic iron regulator	gene	DOID:9004898	Jaundice		ISO	RGD:1345296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:25741868|PMID:28492532
8731107	Hfe	homeostatic iron regulator	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:10953950|PMID:12537660|PMID:12681966|PMID:12952143|PMID:15025725|PMID:15477198|PMID:19214108|PMID:19759876|PMID:19787796|PMID:21228038|PMID:25741868|PMID:26456104|PMID:28492532|PMID:29084376|PMID:29590070|PMID:34426522|PMID:35895739|PMID:36096187|PMID:38980801
8731107	Hfe	homeostatic iron regulator	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345296	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:10381492|PMID:10575540|PMID:11040194|PMID:11812557|PMID:11903354|PMID:12542741|PMID:12693884|PMID:12707220|PMID:15254010|PMID:15858186|PMID:16132052|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27518069|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:37260121|PMID:8696333|PMID:8931958|PMID:9162021|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9462220
8731107	Hfe	homeostatic iron regulator	gene	DOID:9005721	Preeclamptic Toxemia		ISO	RGD:1345296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Toxemia of pregnancy	PMID:25741868|PMID:28492532
8731107	Hfe	homeostatic iron regulator	gene	DOID:9005725	Iron Overload		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.C282Y (human)	PMID:14636644|REF_RGD_ID:10755536
8731107	Hfe	homeostatic iron regulator	gene	DOID:9005725	Iron Overload		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with Beta-Thalassemia;DNA:missense mutation: :p.H63D (human)	PMID:11869934|REF_RGD_ID:10755541
8731107	Hfe	homeostatic iron regulator	gene	DOID:9005725	Iron Overload	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :multiple	PMID:14636644|REF_RGD_ID:10755536
8731107	Hfe	homeostatic iron regulator	gene	DOID:9005725	Iron Overload	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutations: :p.C282Y, p.H63D (human)	PMID:10895137|REF_RGD_ID:10755542
8731107	Hfe	homeostatic iron regulator	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1345296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868|PMID:28492532
8731107	Hfe	homeostatic iron regulator	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:1345296	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374069
8731107	Hfe	homeostatic iron regulator	gene	DOID:9006465	Meconium Ileus		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with cystic fibrosis;DNA:missense mutation: :p.H63D (human)	PMID:30291871|REF_RGD_ID:14701045
8731107	Hfe	homeostatic iron regulator	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345296	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19444013|PMID:19554541|PMID:20301613|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23953397|PMID:24033266|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897
8731107	Hfe	homeostatic iron regulator	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345296	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:10381492|PMID:10401000|PMID:10431233|PMID:10575540|PMID:11040194|PMID:11532995|PMID:11812557|PMID:11903354|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27518069|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:37260121|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897
8731107	Hfe	homeostatic iron regulator	gene	DOID:9007102	Myocardial Ischemia	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD			PMID:11545759|REF_RGD_ID:1582695
8731107	Hfe	homeostatic iron regulator	gene	DOID:9008520	Chronic Pain		ISO	RGD:1345296	D	RGD:9068941	20260709	RGD		DNA:missense mutation: :p.C282Y (rs1800562) (human)	PMID:30657865|REF_RGD_ID:14746966
8731107	Hfe	homeostatic iron regulator	gene	DOID:9008824	Sarcopenia		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.C282Y (rs1800562) (human)	PMID:30657865|REF_RGD_ID:14746966
8731107	Hfe	homeostatic iron regulator	gene	DOID:9008914	Lead Poisoning		ISO	RGD:1345296	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20659343
8731107	Hfe	homeostatic iron regulator	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation, haplotype:cds:p.C282Y (human)	PMID:10383894|REF_RGD_ID:8694350
8731107	Hfe	homeostatic iron regulator	gene	DOID:9351	diabetes mellitus		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.C282Y (rs1800562) (human)	PMID:30651232|REF_RGD_ID:14746965
8731107	Hfe	homeostatic iron regulator	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10953950|PMID:12537660|PMID:12681966|PMID:12952143|PMID:15025725|PMID:15477198|PMID:19214108|PMID:19759876|PMID:19787796|PMID:21228038|PMID:25741868|PMID:26456104|PMID:28492532|PMID:29084376|PMID:29590070|PMID:34426522|PMID:35895739|PMID:36096187|PMID:38980801
8731107	Hfe	homeostatic iron regulator	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.H63D (human)	PMID:20097100|REF_RGD_ID:8694381
8731107	Hfe	homeostatic iron regulator	gene	DOID:9452	steatotic liver disease	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		Non-alcoholic steatohepatitis (NASH)	PMID:12105842|REF_RGD_ID:1601460
8731107	Hfe	homeostatic iron regulator	gene	DOID:9538	multiple myeloma	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation, haplotype:cds:p.C282Y (human)	PMID:10383894|REF_RGD_ID:8694350
8731107	Hfe	homeostatic iron regulator	gene	DOID:9663	aphthous stomatitis		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.H63D (human)	PMID:28950260|REF_RGD_ID:14746964
8731107	Hfe	homeostatic iron regulator	gene	DOID:987	alopecia		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Alopecia	PMID:10953950|PMID:12537660|PMID:12681966|PMID:12952143|PMID:15025725|PMID:15477198|PMID:19214108|PMID:19759876|PMID:19787796|PMID:21228038|PMID:25741868|PMID:26456104|PMID:28492532|PMID:29084376|PMID:29590070|PMID:34426522|PMID:35895739|PMID:36096187|PMID:38980801
8731107	Hfe	homeostatic iron regulator	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.H63D (human)	PMID:17107905|REF_RGD_ID:10755558
8731107	Hfe	homeostatic iron regulator	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C282Y (human)	PMID:10627122|REF_RGD_ID:10755557
8731107	Hfe	homeostatic iron regulator	gene	DOID:9952	acute lymphoblastic leukemia	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.H63D (human)	PMID:10627122|REF_RGD_ID:10755557
8731107	Hfe	homeostatic iron regulator	gene	DOID:9970	obesity		ISO	RGD:1345296	D	RGD:9068941	20260709	RGD		associated with Diabetes Mellitus, Type 2;DNA:missense mutations:CDS:p.C282Y, p.H63D (human)	PMID:10705106|REF_RGD_ID:1601449
8731138	Kif18b	kinesin family member 18B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2292085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8731138	Kif18b	kinesin family member 18B	gene	DOID:0080600	COVID-19		ISO	RGD:2292085	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8731138	Kif18b	kinesin family member 18B	gene	DOID:1115	sarcoma		ISO	RGD:2292085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8731138	Kif18b	kinesin family member 18B	gene	DOID:1324	lung cancer		ISO	RGD:2292085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8731138	Kif18b	kinesin family member 18B	gene	DOID:1909	melanoma		ISO	RGD:2292085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8731138	Kif18b	kinesin family member 18B	gene	DOID:3275	thymoma		ISO	RGD:2292085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8731138	Kif18b	kinesin family member 18B	gene	DOID:5041	esophageal cancer		ISO	RGD:2292085	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8731138	Kif18b	kinesin family member 18B	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:2292085	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
8731138	Kif18b	kinesin family member 18B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2292085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731138	Kif18b	kinesin family member 18B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2292085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8731138	Kif18b	kinesin family member 18B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2292085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8731138	Kif18b	kinesin family member 18B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2292085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8731161	Gpr157	G protein-coupled receptor 157	gene	DOID:2394	ovarian cancer		ISO	RGD:1322370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8731161	Gpr157	G protein-coupled receptor 157	gene	DOID:5041	esophageal cancer		ISO	RGD:1322370	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8731161	Gpr157	G protein-coupled receptor 157	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731161	Gpr157	G protein-coupled receptor 157	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:1350913	D	RGD:9068941	20200609	RGD			PMID:14648660|REF_RGD_ID:7483575
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:224	transient cerebral ischemia		ISO	RGD:620800	D	RGD:9068941	20200609	RGD			PMID:14972662|REF_RGD_ID:2314028
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:3083	chronic obstructive pulmonary disease	treatment	ISO	RGD:620800	D	RGD:9068941	20200609	RGD			PMID:25888379|REF_RGD_ID:11561985
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:620800	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:17379825|REF_RGD_ID:9685412
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:5327	retinal detachment		ISO	RGD:620800	D	RGD:9068941	20200609	RGD			PMID:26093278|REF_RGD_ID:11561987
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:5327	retinal detachment		ISO	RGD:733814	D	RGD:9068941	20200609	RGD			PMID:26093278|REF_RGD_ID:11561987
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:5844	myocardial infarction		ISO	RGD:620800	D	RGD:9068941	20200609	RGD		mRNA:increased expression:plantaris	PMID:24427319|REF_RGD_ID:11557988
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:620800	D	RGD:9068941	20200609	RGD			PMID:23508759|REF_RGD_ID:11561982
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:783	end stage renal disease		ISO	RGD:620800	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:24090408|REF_RGD_ID:11561926
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:1350913	D	RGD:9068941	20200609	RGD		protein:increased expression:ileum	PMID:16002567|REF_RGD_ID:11561971
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:620800	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:23637053|REF_RGD_ID:11564330
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1350913	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:9000288	Chronic Intermittent Hypoxia		ISO	RGD:620800	D	RGD:9068941	20200609	RGD			PMID:24990154|REF_RGD_ID:11561988
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:9000304	Manganese Poisoning		ISO	RGD:1350913	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19442826
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:9000438	Subarachnoid Hemorrhage	treatment	ISO	RGD:620800	D	RGD:9068941	20200609	RGD			PMID:23850688|REF_RGD_ID:11561986
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1350913	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18163427
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:620800	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney	PMID:23698117|REF_RGD_ID:11561968
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:9007480	Hyperoxia		ISO	RGD:620800	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:retina	PMID:20157446|REF_RGD_ID:5128796
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:620800	D	RGD:9068941	20220930	RGD		protein:decreased expression:myocardium (human)	PMID:28661226|REF_RGD_ID:155260328
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:620800	D	RGD:9068941	20200609	RGD			PMID:16645637|REF_RGD_ID:11561983
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:9008217	Hemorrhage		ISO	RGD:620800	D	RGD:9068941	20200609	RGD		protein:increased expression:heart left ventricle	PMID:21193900|REF_RGD_ID:11564331
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:9538	multiple myeloma		ISO	RGD:1350913	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18172295
8731175	Bnip3	BCL2 interacting protein 3	gene	DOID:9970	obesity		ISO	RGD:620800	D	RGD:9068941	20200609	RGD			PMID:18070754|REF_RGD_ID:2292682
8731185	Sftpb	surfactant protein B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8731185	Sftpb	surfactant protein B	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:737197	D	RGD:9068941	20220414	RGD		protein:decreased expression:serum:	PMID:25953386|REF_RGD_ID:151667446
8731185	Sftpb	surfactant protein B	gene	DOID:11162	respiratory failure		ISO	RGD:737197	D	RGD:9068941	20200609	RGD		associated with Pulmonary Alveolar Proteinosis;DNA:insertion:exon:375delCinsGAA (human)	PMID:8163685|REF_RGD_ID:1624152
8731185	Sftpb	surfactant protein B	gene	DOID:11162	respiratory failure		ISO	RGD:737197	D	RGD:9068941	20200609	RGD		associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism:intron (human)	PMID:12515908|REF_RGD_ID:4143414
8731185	Sftpb	surfactant protein B	gene	DOID:11162	respiratory failure		ISO	RGD:737198	D	RGD:9068941	20200609	RGD			PMID:12639841|PMID:1622844|REF_RGD_ID:4143410|REF_RGD_ID:4143460
8731185	Sftpb	surfactant protein B	gene	DOID:11339	pneumocystosis		ISO	RGD:737198	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung	PMID:11385364|REF_RGD_ID:4143431
8731185	Sftpb	surfactant protein B	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:737197	D	RGD:9068941	20200609	RGD		associated with Pneumonia;DNA:polymorphism: :1580C>T (human)	PMID:15190959|REF_RGD_ID:4143404
8731185	Sftpb	surfactant protein B	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:737197	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung	PMID:17662121|REF_RGD_ID:4143379
8731185	Sftpb	surfactant protein B	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:737197	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:9351625|REF_RGD_ID:4143447
8731185	Sftpb	surfactant protein B	gene	DOID:11394	adult respiratory distress syndrome	susceptibility	ISO	RGD:737197	D	RGD:9068941	20200609	RGD		associated with Lung Injury;DNA:polymorphism:intron (human)	PMID:14718442|REF_RGD_ID:4143408
8731185	Sftpb	surfactant protein B	gene	DOID:11650	bronchopulmonary dysplasia		ISO	RGD:737197	D	RGD:9068941	20200609	RGD			PMID:17264398|REF_RGD_ID:4143384
8731185	Sftpb	surfactant protein B	gene	DOID:11650	bronchopulmonary dysplasia		ISO	RGD:737197	D	RGD:9068941	20200609	RGD		DNA:deletion:intron (human)	PMID:15102713|REF_RGD_ID:4143405
8731185	Sftpb	surfactant protein B	gene	DOID:11650	bronchopulmonary dysplasia	susceptibility	ISO	RGD:737197	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron (human)	PMID:12424586|REF_RGD_ID:4143418
8731185	Sftpb	surfactant protein B	gene	DOID:11650	bronchopulmonary dysplasia	susceptibility	ISO	RGD:737197	D	RGD:9068941	20220414	RGD		DNA:SNPs:5'UTR,exon:	PMID:26045806|REF_RGD_ID:11085373
8731185	Sftpb	surfactant protein B	gene	DOID:12120	pulmonary alveolar proteinosis		ISO	RGD:737197	D	RGD:9068941	20200609	RGD		protein:altered processing:lung	PMID:16042774|REF_RGD_ID:4143392
8731185	Sftpb	surfactant protein B	gene	DOID:12120	pulmonary alveolar proteinosis		ISO	RGD:737197	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:12612307|REF_RGD_ID:4143411
8731185	Sftpb	surfactant protein B	gene	DOID:12120	pulmonary alveolar proteinosis		ISO	RGD:737198	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:7654386|REF_RGD_ID:4143454
8731185	Sftpb	surfactant protein B	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:621700	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:lung	PMID:11504697|REF_RGD_ID:4143428
8731185	Sftpb	surfactant protein B	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:737197	D	RGD:9068941	20200609	RGD			PMID:12490037|PMID:18353230|REF_RGD_ID:4143376|REF_RGD_ID:4143416
8731185	Sftpb	surfactant protein B	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:737197	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron (human)	PMID:7832777|REF_RGD_ID:4143455
8731185	Sftpb	surfactant protein B	gene	DOID:12716	newborn respiratory distress syndrome	susceptibility	ISO	RGD:737197	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.T131I (human)	PMID:11063734|REF_RGD_ID:4143433
8731185	Sftpb	surfactant protein B	gene	DOID:12716	newborn respiratory distress syndrome	susceptibility	ISO	RGD:737197	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron (human)	PMID:12424586|REF_RGD_ID:4143418
8731185	Sftpb	surfactant protein B	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:737197	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung	PMID:10194154|REF_RGD_ID:4143439
8731185	Sftpb	surfactant protein B	gene	DOID:1273	respiratory syncytial virus infectious disease	severity	ISO	RGD:737197	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter, cds, intron:-32G>T (rs2077079), p.T131I (rs1130866), 5781A>C (rs2040349) (human)	PMID:17498296|REF_RGD_ID:4143382
8731185	Sftpb	surfactant protein B	gene	DOID:1324	lung cancer		ISO	RGD:737197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8731185	Sftpb	surfactant protein B	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:737197	D	RGD:9068941	20220407	RGD			PMID:28743125|REF_RGD_ID:151667423
8731185	Sftpb	surfactant protein B	gene	DOID:14115	toxic shock syndrome		ISO	RGD:737197	D	RGD:9068941	20200609	RGD		associated with Pneumonia;DNA:polymorphism: :1580C>T (human)	PMID:15190959|REF_RGD_ID:4143404
8731185	Sftpb	surfactant protein B	gene	DOID:1485	cystic fibrosis		ISO	RGD:737197	D	RGD:9068941	20200609	RGD		mRNA:increased expression:respiratory system mucosa	PMID:17507829|REF_RGD_ID:4143381
8731185	Sftpb	surfactant protein B	gene	DOID:2841	asthma		ISO	RGD:621700	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung, Clara cell	PMID:15816355|REF_RGD_ID:4143398
8731185	Sftpb	surfactant protein B	gene	DOID:2841	asthma		ISO	RGD:737197	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:16629790|REF_RGD_ID:4143462
8731185	Sftpb	surfactant protein B	gene	DOID:2841	asthma		ISO	RGD:737198	D	RGD:9068941	20200609	RGD			PMID:18926058|REF_RGD_ID:4143289
8731185	Sftpb	surfactant protein B	gene	DOID:2841	asthma		ISO	RGD:737198	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:lung	PMID:11472974|REF_RGD_ID:4143465
8731185	Sftpb	surfactant protein B	gene	DOID:2914	immune system disease		ISO	RGD:737198	D	RGD:9068941	20200609	RGD		associated with   Pneumonia, Pneumocystis carinii;protein:decreased expression:lung	PMID:19201882|REF_RGD_ID:4143286
8731185	Sftpb	surfactant protein B	gene	DOID:3082	interstitial lung disease		ISO	RGD:737197	D	RGD:9068941	20200609	RGD		associated with Scleroderma, Systemic;DNA:SNP: :p.T131I (rs1130866) (human)	PMID:18263595|REF_RGD_ID:4143377
8731185	Sftpb	surfactant protein B	gene	DOID:3082	interstitial lung disease		ISO	RGD:737197	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung	PMID:11445799|REF_RGD_ID:4143430
8731185	Sftpb	surfactant protein B	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:737197	D	RGD:9068941	20200609	RGD		DNA:SNP: :p.T131I (rs1130866) (human)	PMID:15817713|REF_RGD_ID:4143396
8731185	Sftpb	surfactant protein B	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:737197	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple (human)	PMID:18550614|REF_RGD_ID:4143290
8731185	Sftpb	surfactant protein B	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:737197	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :1580C>T (human)	PMID:11589345|PMID:15315329|REF_RGD_ID:4143402|REF_RGD_ID:4143423
8731185	Sftpb	surfactant protein B	gene	DOID:3770	pulmonary fibrosis	susceptibility	ISO	RGD:737197	D	RGD:9068941	20200609	RGD		DNA:polymorphism (human)	PMID:13680361|REF_RGD_ID:4143409
8731185	Sftpb	surfactant protein B	gene	DOID:3827	congenital diaphragmatic hernia	treatment	ISO	RGD:621700	D	RGD:9068941	20220408	RGD			PMID:11051153|REF_RGD_ID:151667435
8731185	Sftpb	surfactant protein B	gene	DOID:3907	lung squamous cell carcinoma	susceptibility	ISO	RGD:737197	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron (human)	PMID:16570259|REF_RGD_ID:4143389
8731185	Sftpb	surfactant protein B	gene	DOID:3907	lung squamous cell carcinoma	susceptibility	ISO	RGD:737197	D	RGD:9068941	20220407	RGD		DNA:variants:intron:	PMID:12107845|REF_RGD_ID:151667424
8731185	Sftpb	surfactant protein B	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:737197	D	RGD:9068941	20220407	RGD		DNA:SNPs: :rs7316, rs9752 (human)	PMID:31016788|REF_RGD_ID:151667418
8731185	Sftpb	surfactant protein B	gene	DOID:552	pneumonia		ISO	RGD:737197	D	RGD:9068941	20200609	RGD			PMID:16024721|REF_RGD_ID:4143393
8731185	Sftpb	surfactant protein B	gene	DOID:552	pneumonia		ISO	RGD:737198	D	RGD:9068941	20200609	RGD			PMID:12594064|PMID:15967375|REF_RGD_ID:4143394|REF_RGD_ID:4143412
8731185	Sftpb	surfactant protein B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731185	Sftpb	surfactant protein B	gene	DOID:630	genetic disease		ISO	RGD:737198	D	RGD:9068941	20240509	RGD		Hermansky-Pudlak syndrome;protein:decreased expression:lung	PMID:15790974|REF_RGD_ID:4143399
8731185	Sftpb	surfactant protein B	gene	DOID:850	lung disease		ISO	RGD:10717	D	RGD:9068941	20200609	RGD		Acute Lung Injury	PMID:16309574|REF_RGD_ID:4143390
8731185	Sftpb	surfactant protein B	gene	DOID:850	lung disease		ISO	RGD:621700	D	RGD:9068941	20200609	RGD		Meconium Aspiration Syndrome;protein:decreased expression:lung	PMID:9374572|REF_RGD_ID:4143446
8731185	Sftpb	surfactant protein B	gene	DOID:850	lung disease		ISO	RGD:621700	D	RGD:9068941	20200609	RGD		associated with Hyperoxia;mRNA:increased expression:lung	PMID:19099817|REF_RGD_ID:4143287
8731185	Sftpb	surfactant protein B	gene	DOID:850	lung disease		ISO	RGD:737197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16863852
8731185	Sftpb	surfactant protein B	gene	DOID:850	lung disease		ISO	RGD:737197	D	RGD:9068941	20200609	RGD		Acute Lung Injury;mRNA:increased expression:pneumocyte	PMID:8569184|REF_RGD_ID:4143451
8731185	Sftpb	surfactant protein B	gene	DOID:850	lung disease		ISO	RGD:737197	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis;protein:increased expression:lung	PMID:16274485|REF_RGD_ID:4143463
8731185	Sftpb	surfactant protein B	gene	DOID:850	lung disease		ISO	RGD:737197	D	RGD:9068941	20200609	RGD		protein:altered processing:lung	PMID:16042774|REF_RGD_ID:4143392
8731185	Sftpb	surfactant protein B	gene	DOID:874	bacterial pneumonia		ISO	RGD:621700	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:12169586|REF_RGD_ID:4143464
8731185	Sftpb	surfactant protein B	gene	DOID:874	bacterial pneumonia		ISO	RGD:737197	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis;protein:increased expression:lung	PMID:15271694|REF_RGD_ID:4143403
8731185	Sftpb	surfactant protein B	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:737198	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung	PMID:14748931|REF_RGD_ID:4143407
8731185	Sftpb	surfactant protein B	gene	DOID:9001026	Pulmonary Surfactant Metabolism Dysfunction 1		ISO	RGD:737197	D	RGD:7240710	20180130	OMIM			
8731185	Sftpb	surfactant protein B	gene	DOID:9001026	Pulmonary Surfactant Metabolism Dysfunction 1		ISO	RGD:737197	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 1 | ClinVar Annotator: match by term: SFTPB-related disorder | ClinVar Annotator: match by term: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1	PMID:10378403|PMID:10571948|PMID:10712351|PMID:11076040|PMID:23330012|PMID:24033266|PMID:25741868|PMID:26620227|PMID:28492532|PMID:28888561|PMID:7491219|PMID:9682215|PMID:9973546
8731185	Sftpb	surfactant protein B	gene	DOID:9001049	Staphylococcal Pneumonia	ameliorates	ISO	RGD:737197	D	RGD:9068941	20220414	RGD			PMID:20007532|REF_RGD_ID:151667448
8731185	Sftpb	surfactant protein B	gene	DOID:9002379	Congenital Deficiency of Pulmonary Surfactant Protein B		ISO	RGD:737197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary surfactant protein B, deficiency of	PMID:11076040|PMID:23330012|PMID:24033266|PMID:25741868|PMID:26620227|PMID:28492532
8731185	Sftpb	surfactant protein B	gene	DOID:9002379	Congenital Deficiency of Pulmonary Surfactant Protein B	ameliorates	ISO	RGD:737197	D	RGD:9068941	20220414	RGD			PMID:28581337|REF_RGD_ID:151667445
8731185	Sftpb	surfactant protein B	gene	DOID:9003953	Surfactant Dysfunction		ISO	RGD:737197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction	PMID:11076040|PMID:23330012|PMID:24033266|PMID:25741868|PMID:26620227|PMID:28492532
8731185	Sftpb	surfactant protein B	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:621700	D	RGD:9068941	20220408	RGD			PMID:22295533|REF_RGD_ID:151667443
8731185	Sftpb	surfactant protein B	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:737197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16570259
8731185	Sftpb	surfactant protein B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8731185	Sftpb	surfactant protein B	gene	DOID:9007417	Pseudomonas Infections	ameliorates	ISO	RGD:737197	D	RGD:9068941	20220414	RGD			PMID:20007532|REF_RGD_ID:151667448
8731185	Sftpb	surfactant protein B	gene	DOID:9007480	Hyperoxia		ISO	RGD:621700	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:11472975|REF_RGD_ID:4143429
8731185	Sftpb	surfactant protein B	gene	DOID:9007480	Hyperoxia		ISO	RGD:737198	D	RGD:9068941	20200609	RGD			PMID:10502556|REF_RGD_ID:4143438
8731185	Sftpb	surfactant protein B	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:737197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10830305|PMID:16863852
8731185	Sftpb	surfactant protein B	gene	DOID:9970	obesity		ISO	RGD:621700	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:15136884|REF_RGD_ID:4143472
8731210	Afg2b	AAA ATPase AFG2B	gene	DOID:0050562	West syndrome		ISO	RGD:1317463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	
8731210	Afg2b	AAA ATPase AFG2B	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1317463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
8731210	Afg2b	AAA ATPase AFG2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8731210	Afg2b	AAA ATPase AFG2B	gene	DOID:0070673	autosomal recessive nonsyndromic deafness 119		ISO	RGD:1317463	D	RGD:7240710	20211208	OMIM			
8731210	Afg2b	AAA ATPase AFG2B	gene	DOID:0070673	autosomal recessive nonsyndromic deafness 119		ISO	RGD:1317463	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119	PMID:25741868
8731210	Afg2b	AAA ATPase AFG2B	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1317463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	
8731210	Afg2b	AAA ATPase AFG2B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8731210	Afg2b	AAA ATPase AFG2B	gene	DOID:11782	astigmatism		ISO	RGD:1317463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
8731210	Afg2b	AAA ATPase AFG2B	gene	DOID:13934	facial paralysis		ISO	RGD:1317463	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: facial palsy	PMID:25741868
8731210	Afg2b	AAA ATPase AFG2B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8731210	Afg2b	AAA ATPase AFG2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1317463	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8731210	Afg2b	AAA ATPase AFG2B	gene	DOID:630	genetic disease		ISO	RGD:1317463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8731210	Afg2b	AAA ATPase AFG2B	gene	DOID:9001315	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY		ISO	RGD:1317463	D	RGD:7240710	20220216	OMIM			
8731210	Afg2b	AAA ATPase AFG2B	gene	DOID:9001315	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY		ISO	RGD:1317463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY | ClinVar Annotator: match by term: Neurodevelopmental disorder with hearing loss and spasticity | ClinVar Annotator: match by term: SPATA5L1-associated disorder | ClinVar Annotator: match by term: SPATA5L1-related disorder	PMID:25741868|PMID:26138355|PMID:28492532|PMID:34626583|PMID:37902276|PMID:38855775|PMID:39039281|PMID:39333051
8731210	Afg2b	AAA ATPase AFG2B	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1317463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8731210	Afg2b	AAA ATPase AFG2B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
8731210	Afg2b	AAA ATPase AFG2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8731210	Afg2b	AAA ATPase AFG2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8731233	Dpp10	dipeptidyl peptidase like 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8731233	Dpp10	dipeptidyl peptidase like 10	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1315036	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18252227
8731233	Dpp10	dipeptidyl peptidase like 10	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1315036	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
8731233	Dpp10	dipeptidyl peptidase like 10	gene	DOID:10534	stomach cancer		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8731233	Dpp10	dipeptidyl peptidase like 10	gene	DOID:1115	sarcoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8731233	Dpp10	dipeptidyl peptidase like 10	gene	DOID:1324	lung cancer		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8731233	Dpp10	dipeptidyl peptidase like 10	gene	DOID:1909	melanoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8731233	Dpp10	dipeptidyl peptidase like 10	gene	DOID:2841	asthma		ISO	RGD:1306427	D	RGD:9068941	20200609	RGD		protein:increased expression:bronchus	PMID:17967935|REF_RGD_ID:4892278
8731233	Dpp10	dipeptidyl peptidase like 10	gene	DOID:2841	asthma		ISO	RGD:1315036	D	RGD:9068941	20200609	RGD		DNA:SNP:exon (human)	PMID:14566338|REF_RGD_ID:4892276
8731233	Dpp10	dipeptidyl peptidase like 10	gene	DOID:2841	asthma		ISO	RGD:1315036	D	RGD:9068941	20200609	RGD		DNA:SNPs (human)	PMID:21103062|REF_RGD_ID:4889866
8731233	Dpp10	dipeptidyl peptidase like 10	gene	DOID:2841	asthma		ISO	RGD:1315036	D	RGD:9068941	20260430	RGD		DNA:SNP: :rs1435879	PMID:19910028|REF_RGD_ID:645238736
8731233	Dpp10	dipeptidyl peptidase like 10	gene	DOID:2841	asthma	no_association	ISO	RGD:1315036	D	RGD:9068941	20260312	RGD		DNA:SNPs: :multiple	PMID:19672052|REF_RGD_ID:4892275
8731233	Dpp10	dipeptidyl peptidase like 10	gene	DOID:3275	thymoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8731233	Dpp10	dipeptidyl peptidase like 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8731233	Dpp10	dipeptidyl peptidase like 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8731233	Dpp10	dipeptidyl peptidase like 10	gene	DOID:5419	schizophrenia		ISO	RGD:1315036	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
8731233	Dpp10	dipeptidyl peptidase like 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731233	Dpp10	dipeptidyl peptidase like 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8731233	Dpp10	dipeptidyl peptidase like 10	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:1315036	D	RGD:9068941	20200609	RGD			PMID:19951440|REF_RGD_ID:4892274
8731233	Dpp10	dipeptidyl peptidase like 10	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1315036	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
8731233	Dpp10	dipeptidyl peptidase like 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8731233	Dpp10	dipeptidyl peptidase like 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8731282	Mfn2	mitofusin 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26686600|PMID:28251916|PMID:28414270|PMID:28492532|PMID:2926664|PMID:29358271|PMID:30158064|PMID:31589614|PMID:31980526|PMID:33415332|PMID:33502018|PMID:34114234|PMID:34426522|PMID:35468369|PMID:35641312|PMID:37091313|PMID:38887266
8731282	Mfn2	mitofusin 2	gene	DOID:0050538	Charcot-Marie-Tooth disease type 1		ISO	RGD:732569	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I	
8731282	Mfn2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:10732809|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26968897|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29674596|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30649465|PMID:30882371|PMID:31127728|PMID:31188717|PMID:31315766|PMID:31453851|PMID:31664033|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9333264|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:10732809|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26968897|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29674596|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30649465|PMID:30882371|PMID:31127728|PMID:31188717|PMID:31315766|PMID:31453851|PMID:31664033|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9333264|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:10732809|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21735565|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10732809|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28902413|PMID:29068134|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34193129|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10732809|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28902413|PMID:29068134|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31130284|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34193129|PMID:34232518|PMID:34366782|PMID:34721278|PMID:35938991|PMID:8406488|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:10732809|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28902413|PMID:29068134|PMID:29215088|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30659145|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34103343|PMID:34193129|PMID:34232518|PMID:34366782|PMID:34721278|PMID:35418194|PMID:35938991|PMID:8406488|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10732809|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23781337|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26956144|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28810241|PMID:28902413|PMID:29068134|PMID:29215088|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30659145|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32657593|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33578441|PMID:33841295|PMID:34060689|PMID:34103343|PMID:34193129|PMID:34232518|PMID:34354735|PMID:34366782|PMID:34721278|PMID:35418194|PMID:35922214|PMID:35938991|PMID:35994048|PMID:8406488|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10732809|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215402|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21735565|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23781337|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25497598|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26956144|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28810241|PMID:29068134|PMID:29215088|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30659145|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31127728|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32657593|PMID:32963807|PMID:33187793|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33578441|PMID:33841295|PMID:34060689|PMID:34103343|PMID:34193129|PMID:34232518|PMID:34354735|PMID:34366782|PMID:34721278|PMID:35418194|PMID:35922214|PMID:35936615|PMID:35938991|PMID:35994048|PMID:36964972|PMID:37091313|PMID:37712079|PMID:37797217|PMID:8406488|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10732809|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215402|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23781337|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25497598|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26956144|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28810241|PMID:29068134|PMID:29215088|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30659145|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31127728|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32657593|PMID:32963807|PMID:33187793|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33578441|PMID:33841295|PMID:34060689|PMID:34103343|PMID:34193129|PMID:34232518|PMID:34354735|PMID:34366782|PMID:34721278|PMID:35418194|PMID:35922214|PMID:35936615|PMID:35938991|PMID:35994048|PMID:36964972|PMID:37091313|PMID:37712079|PMID:37797217|PMID:8406488|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10508514|PMID:10732809|PMID:11241840|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215402|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:198122151|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23781337|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25497598|PMID:25533962|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26764160|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26956144|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27506976|PMID:27549087|PMID:27553710|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:27884173|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28292286|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28810241|PMID:29068134|PMID:29215088|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30373780|PMID:30442897|PMID:30606759|PMID:30642740|PMID:30649465|PMID:30659145|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31127728|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31589614|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32245838|PMID:32376792|PMID:32380161|PMID:32399692|PMID:32483926|PMID:32522799|PMID:32657593|PMID:32963807|PMID:33110000|PMID:33187793|PMID:33333791|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33578441|PMID:33841295|PMID:33879512|PMID:34060689|PMID:34103343|PMID:34190362|PMID:34193129|PMID:34232518|PMID:34255403|PMID:34354735|PMID:34366782|PMID:34426522|PMID:34721278|PMID:35418194|PMID:35449525|PMID:35531120|PMID:35922214|PMID:35936615|PMID:35938991|PMID:35994048|PMID:36790232|PMID:36964972|PMID:36973604|PMID:37091313|PMID:37273706|PMID:37712079|PMID:37797217|PMID:37910431|PMID:37926714|PMID:37927275|PMID:38124143|PMID:39140136|PMID:39825153|PMID:8406488|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10732809|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:198122151|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20819609|PMID:20951041|PMID:21258814|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21576112|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21892769|PMID:22189565|PMID:22206013|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23781337|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24627108|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26257172|PMID:26306937|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26686600|PMID:26764160|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26956144|PMID:26968460|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28810241|PMID:29215088|PMID:2926664|PMID:29358271|PMID:29473246|PMID:29674596|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30210586|PMID:30442897|PMID:30564185|PMID:30606759|PMID:30642740|PMID:30649465|PMID:30724636|PMID:30807887|PMID:31127728|PMID:31130284|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31453851|PMID:31589614|PMID:31664033|PMID:31701603|PMID:31832804|PMID:31980526|PMID:32376792|PMID:32397312|PMID:32483926|PMID:32963807|PMID:33110000|PMID:33333791|PMID:33415332|PMID:33502018|PMID:33841295|PMID:34114234|PMID:34190362|PMID:34255403|PMID:34426522|PMID:34721278|PMID:35449525|PMID:35468369|PMID:35641312|PMID:35922214|PMID:35994048|PMID:36098092|PMID:36964972|PMID:37091313|PMID:37712079|PMID:37747677|PMID:37910431|PMID:38887266|PMID:39140136|PMID:39825153|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10732809|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:198122151|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20819609|PMID:20951041|PMID:21258814|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21576112|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21892769|PMID:22189565|PMID:22206013|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23781337|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24627108|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26257172|PMID:26306937|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26686600|PMID:26764160|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26956144|PMID:26968460|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28810241|PMID:29215088|PMID:2926664|PMID:29358271|PMID:29473246|PMID:29674596|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30210586|PMID:30442897|PMID:30564185|PMID:30606759|PMID:30642740|PMID:30649465|PMID:30724636|PMID:30807887|PMID:31130284|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31453851|PMID:31589614|PMID:31664033|PMID:31701603|PMID:31832804|PMID:31980526|PMID:32376792|PMID:32397312|PMID:32483926|PMID:32963807|PMID:33110000|PMID:33333791|PMID:33415332|PMID:33502018|PMID:33841295|PMID:34114234|PMID:34190362|PMID:34255403|PMID:34426522|PMID:34721278|PMID:35449525|PMID:35468369|PMID:35641312|PMID:35922214|PMID:35994048|PMID:36098092|PMID:36964972|PMID:37091313|PMID:37712079|PMID:37747677|PMID:37910431|PMID:38887266|PMID:39140136|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:10732809|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:198122151|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20819609|PMID:20951041|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21576112|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21892769|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23781337|PMID:23800155|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26686600|PMID:26752306|PMID:26764160|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26956144|PMID:26968460|PMID:26968897|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28810241|PMID:29215088|PMID:29266326|PMID:2926664|PMID:29358271|PMID:29473246|PMID:29674596|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30564185|PMID:30606759|PMID:30642740|PMID:30649465|PMID:30659145|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31130284|PMID:31186069|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31453851|PMID:31589614|PMID:31640251|PMID:31664033|PMID:31701603|PMID:31827005|PMID:31832804|PMID:31980526|PMID:32376792|PMID:32397312|PMID:32483926|PMID:32963807|PMID:33110000|PMID:33333791|PMID:33415332|PMID:33502018|PMID:33841295|PMID:34103343|PMID:34114234|PMID:34190362|PMID:34255403|PMID:34426522|PMID:34721278|PMID:35418194|PMID:35449525|PMID:35468369|PMID:35641312|PMID:35922214|PMID:35994048|PMID:36098092|PMID:36964972|PMID:37091313|PMID:37712079|PMID:37747677|PMID:37910431|PMID:38887266|PMID:39140136|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10732809|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:17215403|PMID:17296794|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:198122151|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20819609|PMID:20951041|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21840889|PMID:21892769|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23733358|PMID:23781337|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26764160|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26956144|PMID:26968460|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28810241|PMID:29215088|PMID:29266326|PMID:2926664|PMID:29358271|PMID:29473246|PMID:29674596|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30564185|PMID:30606759|PMID:30642740|PMID:30649465|PMID:30659145|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31453851|PMID:31589614|PMID:31640251|PMID:31664033|PMID:31701603|PMID:31832804|PMID:31980526|PMID:32376792|PMID:32483926|PMID:32963807|PMID:33110000|PMID:33333791|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34103343|PMID:34114234|PMID:34190362|PMID:34255403|PMID:34366782|PMID:34426522|PMID:34721278|PMID:35177962|PMID:35418194|PMID:35449525|PMID:35468369|PMID:35641312|PMID:35922214|PMID:35938991|PMID:35994048|PMID:36098092|PMID:36964972|PMID:37091313|PMID:37712079|PMID:37747677|PMID:37910431|PMID:38887266|PMID:39140136|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:732569	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4	PMID:25741868|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:0050581	brachydactyly		ISO	RGD:732569	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:16762064|PMID:18458227|PMID:19889647|PMID:20008656|PMID:20350294|PMID:20482598|PMID:21258814|PMID:21519004|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25403865|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26686600|PMID:26764160|PMID:27582484|PMID:28251916|PMID:28414270|PMID:28492532|PMID:2926664|PMID:29358271|PMID:29473246|PMID:30158064|PMID:31589614|PMID:31980526|PMID:32376792|PMID:32483926|PMID:33333791|PMID:33415332|PMID:33502018|PMID:33841295|PMID:34114234|PMID:34426522|PMID:35449525|PMID:35468369|PMID:35641312|PMID:37091313|PMID:38887266
8731282	Mfn2	mitofusin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26686600|PMID:28251916|PMID:28414270|PMID:28492532|PMID:2926664|PMID:29358271|PMID:30158064|PMID:31589614|PMID:31980526|PMID:33415332|PMID:33502018|PMID:34114234|PMID:34426522|PMID:35468369|PMID:35641312|PMID:37091313|PMID:38887266
8731282	Mfn2	mitofusin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:0050951	hereditary ataxia		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	PMID:25741868|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:0060058	lymphoma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8731282	Mfn2	mitofusin 2	gene	DOID:0060249	scoliosis		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:16762064|PMID:16835246|PMID:19889647|PMID:22492563|PMID:22851605|PMID:22926664|PMID:24473995|PMID:24957169|PMID:25741868|PMID:26467025|PMID:26801520|PMID:28251916|PMID:28492532|PMID:29674596|PMID:30649465|PMID:31664033
8731282	Mfn2	mitofusin 2	gene	DOID:0080068	Charcot-Marie-Tooth disease type 6		ISO	RGD:732569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, TYPE 6 | ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY	PMID:15064763|PMID:16043786|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:17215403|PMID:17296794|PMID:18458227|PMID:19889647|PMID:20008656|PMID:20350294|PMID:20418531|PMID:20482598|PMID:21258814|PMID:21285398|PMID:21508331|PMID:21519004|PMID:22442078|PMID:22492563|PMID:22851605|PMID:22926664|PMID:24033266|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24604904|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26686600|PMID:26764160|PMID:26801520|PMID:27549087|PMID:27582484|PMID:27863451|PMID:28251916|PMID:28414270|PMID:28492532|PMID:2926664|PMID:29358271|PMID:29473246|PMID:29674596|PMID:30158064|PMID:30649465|PMID:31130284|PMID:31188717|PMID:31589614|PMID:31664033|PMID:31832804|PMID:31980526|PMID:32376792|PMID:32483926|PMID:33333791|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34114234|PMID:34366782|PMID:34426522|PMID:35449525|PMID:35468369|PMID:35641312|PMID:35938991|PMID:37091313|PMID:38887266
8731282	Mfn2	mitofusin 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:26401075|REF_RGD_ID:13204743
8731282	Mfn2	mitofusin 2	gene	DOID:0080734	Ehlers-Danlos syndrome kyphoscoliotic type 1		ISO	RGD:11665778|RGD:11666301	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1	
8731282	Mfn2	mitofusin 2	gene	DOID:0110155	Charcot-Marie-Tooth disease type 2A2A		ISO	RGD:732569	D	RGD:7240710	20190703	OMIM			
8731282	Mfn2	mitofusin 2	gene	DOID:0110155	Charcot-Marie-Tooth disease type 2A2A		ISO	RGD:732569	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A	PMID:10508514|PMID:10732809|PMID:11241840|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215402|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:23456260|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24604904|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25533962|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26147798|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26764160|PMID:26801520|PMID:26930221|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27553710|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30649465|PMID:30659145|PMID:30882371|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32380161|PMID:32399692|PMID:32483926|PMID:32657593|PMID:33333791|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34103343|PMID:34193129|PMID:34354735|PMID:34366782|PMID:34426522|PMID:35418194|PMID:35449525|PMID:35922214|PMID:35936615|PMID:35938991|PMID:36790232|PMID:37091313|PMID:37712079|PMID:37797217|PMID:37927275|PMID:38124143|PMID:39825153|PMID:8406488|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:0110155	Charcot-Marie-Tooth disease type 2A2A		ISO	RGD:732569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A	PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:17444508|PMID:18458227|PMID:18996695|PMID:19618221|PMID:19889647|PMID:20008656|PMID:20350294|PMID:20482598|PMID:21326314|PMID:21707411|PMID:22492563|PMID:22851605|PMID:22926664|PMID:24033266|PMID:24053775|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26306937|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27862672|PMID:28251916|PMID:28414270|PMID:28492532|PMID:28660751|PMID:2926664|PMID:29358271|PMID:29674596|PMID:30158064|PMID:30442897|PMID:30649465|PMID:31130284|PMID:31211173|PMID:31589614|PMID:31664033|PMID:31980526|PMID:33415332|PMID:33502018|PMID:34114234|PMID:34426522|PMID:35468369|PMID:35641312|PMID:35922214|PMID:37091313|PMID:38887266
8731282	Mfn2	mitofusin 2	gene	DOID:0110197	Charcot-Marie-Tooth disease dominant intermediate B		ISO	RGD:732569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B	PMID:18316077|PMID:18425620|PMID:18946002|PMID:18957892|PMID:20008656|PMID:21326314|PMID:21531138|PMID:21840889|PMID:22492563|PMID:24088041|PMID:24957169|PMID:25025039|PMID:25741868|PMID:26307494|PMID:26382835|PMID:26633542|PMID:26633545|PMID:28492532|PMID:28660751|PMID:35177962
8731282	Mfn2	mitofusin 2	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26686600|PMID:28251916|PMID:28414270|PMID:28492532|PMID:2926664|PMID:29358271|PMID:30158064|PMID:31589614|PMID:31980526|PMID:33415332|PMID:33502018|PMID:34114234|PMID:34426522|PMID:35468369|PMID:35641312|PMID:37091313|PMID:38887266
8731282	Mfn2	mitofusin 2	gene	DOID:0111557	Charcot-Marie-Tooth disease type 2A2B		ISO	RGD:732569	D	RGD:7240710	20190315	OMIM			
8731282	Mfn2	mitofusin 2	gene	DOID:0111557	Charcot-Marie-Tooth disease type 2A2B		ISO	RGD:732569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2A2B | ClinVar Annotator: match by term: Severe early-onset axonal neuropathy due to MFN2 deficiency	PMID:15064763|PMID:15549395|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:17437620|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21531138|PMID:21840889|PMID:22442078|PMID:22492563|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26230519|PMID:26306937|PMID:26307494|PMID:26382835|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27862672|PMID:27863451|PMID:28251916|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29266326|PMID:2926664|PMID:29358271|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30659145|PMID:30882371|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31589614|PMID:31640251|PMID:31832804|PMID:31980526|PMID:32376792|PMID:32657593|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34103343|PMID:34114234|PMID:34193129|PMID:34366782|PMID:34426522|PMID:35177962|PMID:35418194|PMID:35468369|PMID:35641312|PMID:35922214|PMID:35936615|PMID:35938991|PMID:37091313|PMID:37797217|PMID:38887266|PMID:9409358
8731282	Mfn2	mitofusin 2	gene	DOID:10534	stomach cancer		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732569	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:198122151|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28166811|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31211173|PMID:31673878|PMID:32376792|PMID:32963807|PMID:8406488|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732569	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia	PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:198122151|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28166811|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31211173|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732569	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26968897|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31453851|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732569	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31453851|PMID:31673878|PMID:31832804|PMID:32376792|PMID:32963807|PMID:33415332|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732569	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30649465|PMID:30807887|PMID:30882371|PMID:31127728|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732569	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia	PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215402|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21735565|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23781337|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25497598|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30649465|PMID:30659145|PMID:30807887|PMID:30882371|PMID:31127728|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33578441|PMID:33841295|PMID:34060689|PMID:34103343|PMID:34232518|PMID:34354735|PMID:34366782|PMID:34721278|PMID:35418194|PMID:35922214|PMID:35938991|PMID:37091313|PMID:37712079|PMID:8406488|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732569	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia	PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215402|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23781337|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25497598|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26764160|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27553710|PMID:27582484|PMID:27706887|PMID:27862672|PMID:27863451|PMID:27884173|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28292286|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30373780|PMID:30442897|PMID:30649465|PMID:30659145|PMID:30807887|PMID:30882371|PMID:31127728|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32483926|PMID:32522799|PMID:32963807|PMID:33333791|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33578441|PMID:33841295|PMID:34060689|PMID:34103343|PMID:34232518|PMID:34354735|PMID:34366782|PMID:34426522|PMID:34721278|PMID:35418194|PMID:35449525|PMID:35922214|PMID:35938991|PMID:36790232|PMID:36973604|PMID:37091313|PMID:37712079|PMID:37910431|PMID:37926714|PMID:37927275|PMID:38124143|PMID:8406488|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732569	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:10508514|PMID:10732809|PMID:11148244|PMID:11241840|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215402|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:198122151|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23781337|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25497598|PMID:25533962|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26764160|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27553710|PMID:27582484|PMID:27706887|PMID:27862672|PMID:27863451|PMID:27884173|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28292286|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30373780|PMID:30442897|PMID:30649465|PMID:30659145|PMID:30807887|PMID:30882371|PMID:31127728|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32380161|PMID:32399692|PMID:32483926|PMID:32522799|PMID:32963807|PMID:33110000|PMID:33333791|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33578441|PMID:33841295|PMID:34060689|PMID:34103343|PMID:34232518|PMID:34354735|PMID:34366782|PMID:34426522|PMID:34721278|PMID:35418194|PMID:35449525|PMID:35922214|PMID:35938991|PMID:36790232|PMID:36973604|PMID:37091313|PMID:37273706|PMID:37712079|PMID:37910431|PMID:37926714|PMID:37927275|PMID:38124143|PMID:39825153|PMID:8406488|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:15064763|PMID:15549395|PMID:16043786|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22653593|PMID:22762946|PMID:22926664|PMID:23456260|PMID:23733358|PMID:23781337|PMID:23929728|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25614874|PMID:25741868|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26306937|PMID:26307494|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26764160|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28251916|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29266326|PMID:2926664|PMID:29358271|PMID:29473246|PMID:29625556|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30659145|PMID:30807887|PMID:30882371|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31589614|PMID:31640251|PMID:31664033|PMID:31701603|PMID:31832804|PMID:31980526|PMID:32376792|PMID:32397312|PMID:32483926|PMID:32963807|PMID:33110000|PMID:33333791|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33578441|PMID:33841295|PMID:34060689|PMID:34103343|PMID:34114234|PMID:34366782|PMID:34426522|PMID:35177962|PMID:35418194|PMID:35449525|PMID:35468369|PMID:35641312|PMID:35922214|PMID:35938991|PMID:37091313|PMID:38887266|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus (rat)	PMID:28302704|REF_RGD_ID:12910737
8731282	Mfn2	mitofusin 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732569	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus (human)	PMID:19605646|REF_RGD_ID:7800727
8731282	Mfn2	mitofusin 2	gene	DOID:10763	hypertension		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		protein:decreased expression:aorta (rat)	PMID:25464244|REF_RGD_ID:13204764
8731282	Mfn2	mitofusin 2	gene	DOID:10763	hypertension	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:27847271|REF_RGD_ID:12910764
8731282	Mfn2	mitofusin 2	gene	DOID:10907	microcephaly		ISO	RGD:732569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991
8731282	Mfn2	mitofusin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8731282	Mfn2	mitofusin 2	gene	DOID:1115	sarcoma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:11716	prediabetes syndrome		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		protein:increased expression:heart left ventricle (rat)	PMID:27521417|REF_RGD_ID:12910830
8731282	Mfn2	mitofusin 2	gene	DOID:11720	distal myopathy		ISO	RGD:732569	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:15064763|PMID:15549395|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25403865|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:32963807|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991
8731282	Mfn2	mitofusin 2	gene	DOID:11720	distal myopathy		ISO	RGD:732569	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:10508514|PMID:11241840|PMID:15064763|PMID:15549395|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25403865|PMID:25533962|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:32963807|PMID:33110000|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991
8731282	Mfn2	mitofusin 2	gene	DOID:11720	distal myopathy		ISO	RGD:732569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:15064763|PMID:15549395|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24444136|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25403865|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:32963807|PMID:33110000|PMID:33415332|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991
8731282	Mfn2	mitofusin 2	gene	DOID:11830	myopia		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26686600|PMID:28251916|PMID:28414270|PMID:28492532|PMID:2926664|PMID:29358271|PMID:30158064|PMID:31589614|PMID:31980526|PMID:33415332|PMID:33502018|PMID:34114234|PMID:34426522|PMID:35468369|PMID:35641312|PMID:37091313|PMID:38887266
8731282	Mfn2	mitofusin 2	gene	DOID:12849	autistic disorder		ISO	RGD:732569	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:16762064|PMID:19889647|PMID:20350294|PMID:21258814|PMID:21519004|PMID:22492563|PMID:25403865|PMID:25741868|PMID:26143526|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26764160|PMID:27582484|PMID:28251916|PMID:28492532|PMID:29473246|PMID:32376792|PMID:32483926|PMID:33333791|PMID:33415332|PMID:33841295|PMID:34426522|PMID:35449525|PMID:37091313
8731282	Mfn2	mitofusin 2	gene	DOID:1287	cardiovascular system disease		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26686600|PMID:28251916|PMID:28414270|PMID:28492532|PMID:2926664|PMID:29358271|PMID:30158064|PMID:31589614|PMID:31980526|PMID:33415332|PMID:33502018|PMID:34114234|PMID:34426522|PMID:35468369|PMID:35641312|PMID:37091313|PMID:38887266
8731282	Mfn2	mitofusin 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732570	D	RGD:9068941	20200609	RGD		with Mfn1 knockout	PMID:22052916|REF_RGD_ID:11251967
8731282	Mfn2	mitofusin 2	gene	DOID:13001	carotid stenosis	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:15322553|REF_RGD_ID:1304351
8731282	Mfn2	mitofusin 2	gene	DOID:1324	lung cancer		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:14116	multiple symmetric lipomatosis		ISO	RGD:732569	D	RGD:7240710	20230607	OMIM			
8731282	Mfn2	mitofusin 2	gene	DOID:14116	multiple symmetric lipomatosis		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Madelung's disease | ClinVar Annotator: match by term: Multiple symmetric lipomatosis	PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26686600|PMID:28251916|PMID:28414270|PMID:28492532|PMID:2926664|PMID:29358271|PMID:30158064|PMID:31589614|PMID:31980526|PMID:33415332|PMID:33502018|PMID:34114234|PMID:34426522|PMID:35468369|PMID:35641312|PMID:37091313|PMID:38887266
8731282	Mfn2	mitofusin 2	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:732569	D	RGD:9068941	20230520	RGD		protein:decreased expression:vastus lateralis	PMID:23972212|REF_RGD_ID:329812002
8731282	Mfn2	mitofusin 2	gene	DOID:1596	depressive disorder		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:22244747|REF_RGD_ID:13204844
8731282	Mfn2	mitofusin 2	gene	DOID:17	musculoskeletal system disease		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:21326314|PMID:24450158|PMID:25741868|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:1891	optic nerve disease		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26686600|PMID:28251916|PMID:28414270|PMID:28492532|PMID:2926664|PMID:29358271|PMID:30158064|PMID:31589614|PMID:31980526|PMID:33415332|PMID:33502018|PMID:34114234|PMID:34426522|PMID:35468369|PMID:35641312|PMID:37091313|PMID:38887266
8731282	Mfn2	mitofusin 2	gene	DOID:1909	melanoma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:1969	cerebral palsy		ISO	RGD:732569	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
8731282	Mfn2	mitofusin 2	gene	DOID:2030	anxiety disorder		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain (rat)	PMID:25147362|REF_RGD_ID:13204807
8731282	Mfn2	mitofusin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:2491	sensory peripheral neuropathy		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensory neuropathy	PMID:25741868|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:2841	asthma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26686600|PMID:28251916|PMID:28414270|PMID:28492532|PMID:2926664|PMID:29358271|PMID:30158064|PMID:31589614|PMID:31980526|PMID:33415332|PMID:33502018|PMID:34114234|PMID:34426522|PMID:35468369|PMID:35641312|PMID:37091313|PMID:38887266
8731282	Mfn2	mitofusin 2	gene	DOID:3275	thymoma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:3312	bipolar disorder		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:732569	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:22975021
8731282	Mfn2	mitofusin 2	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:24912636|REF_RGD_ID:13204824
8731282	Mfn2	mitofusin 2	gene	DOID:4362	cervical cancer		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:480	movement disease		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:732569	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868
8731282	Mfn2	mitofusin 2	gene	DOID:5723	optic atrophy		ISO	RGD:732569	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:16762064|PMID:19889647|PMID:20350294|PMID:21258814|PMID:21519004|PMID:22492563|PMID:24627108|PMID:24957169|PMID:25403865|PMID:25614874|PMID:25741868|PMID:26143526|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26764160|PMID:27582484|PMID:27884173|PMID:28251916|PMID:28292286|PMID:28492532|PMID:29473246|PMID:31453851|PMID:32376792|PMID:32483926|PMID:33333791|PMID:33415332|PMID:33841295|PMID:34426522|PMID:35449525|PMID:36973604|PMID:37091313|PMID:37910431|PMID:37926714
8731282	Mfn2	mitofusin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:20886221|REF_RGD_ID:12738232
8731282	Mfn2	mitofusin 2	gene	DOID:6039	uveal melanoma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:630	genetic disease		ISO	RGD:732569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10732809|PMID:12527753|PMID:15064763|PMID:15549395|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:17215403|PMID:17296794|PMID:17437620|PMID:17444508|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19618221|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21707411|PMID:21715711|PMID:21840889|PMID:22442078|PMID:22492563|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23781337|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24473995|PMID:24604904|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25614874|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26307494|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26764160|PMID:26801520|PMID:26955893|PMID:26968460|PMID:27549087|PMID:27582484|PMID:27863451|PMID:28251916|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29215088|PMID:29266326|PMID:2926664|PMID:29358271|PMID:29453956|PMID:29473246|PMID:29674596|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30649465|PMID:30659145|PMID:30882371|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31589614|PMID:31640251|PMID:31664033|PMID:31701603|PMID:31832804|PMID:31980526|PMID:32376792|PMID:32483926|PMID:33333791|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34103343|PMID:34114234|PMID:34366782|PMID:34426522|PMID:35177962|PMID:35418194|PMID:35449525|PMID:35468369|PMID:35641312|PMID:35938991|PMID:36098092|PMID:36229071|PMID:37091313|PMID:37910431|PMID:38887266|PMID:39140136|PMID:9409358
8731282	Mfn2	mitofusin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:7319	axonal neuropathy		ISO	RGD:732569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Axonal neuropathy | ClinVar Annotator: match by term: Peripheral axonal neuropathy | ClinVar Annotator: match by term: Sensory axonal neuropathy	PMID:15064763|PMID:15549395|PMID:16437557|PMID:16714318|PMID:17215403|PMID:17296794|PMID:17437620|PMID:18458227|PMID:18996695|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:21285398|PMID:21508331|PMID:22442078|PMID:22492563|PMID:24033266|PMID:24126688|PMID:24444136|PMID:24604904|PMID:25025039|PMID:25403865|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26230519|PMID:26467025|PMID:26686600|PMID:28251916|PMID:28414270|PMID:28492532|PMID:29266326|PMID:2926664|PMID:29358271|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30659145|PMID:30882371|PMID:31186069|PMID:31589614|PMID:31640251|PMID:31832804|PMID:31980526|PMID:32963807|PMID:33110000|PMID:33415332|PMID:33502018|PMID:34103343|PMID:34114234|PMID:34426522|PMID:35418194|PMID:35468369|PMID:35641312|PMID:37091313|PMID:38887266|PMID:9409358
8731282	Mfn2	mitofusin 2	gene	DOID:767	muscular atrophy		ISO	RGD:732569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:20008656|PMID:20350294|PMID:20482598|PMID:21326314|PMID:21531138|PMID:21840889|PMID:22492563|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24957169|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26307494|PMID:26382835|PMID:26633542|PMID:26633545|PMID:26686600|PMID:28251916|PMID:28414270|PMID:28492532|PMID:28660751|PMID:2926664|PMID:29358271|PMID:30158064|PMID:31589614|PMID:31980526|PMID:33415332|PMID:33502018|PMID:34114234|PMID:34426522|PMID:35177962|PMID:35468369|PMID:35641312|PMID:37091313|PMID:38887266
8731282	Mfn2	mitofusin 2	gene	DOID:811	lipodystrophy		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lipodystrophy	PMID:16714318|PMID:16835246|PMID:21715711|PMID:23781337|PMID:26955893|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:732569	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16762064|PMID:17576681|PMID:19889647|PMID:20350294|PMID:21258814|PMID:21519004|PMID:22492563|PMID:25403865|PMID:25741868|PMID:26143526|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26764160|PMID:27582484|PMID:28251916|PMID:28492532|PMID:29473246|PMID:31589614|PMID:32376792|PMID:32483926|PMID:33333791|PMID:33415332|PMID:33841295|PMID:34426522|PMID:35449525|PMID:37091313|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:870	neuropathy		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:16714318|PMID:16835246|PMID:21715711|PMID:23781337|PMID:25741868|PMID:26955893|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:8947	diabetic retinopathy		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression:retina (rat)	PMID:28487236|REF_RGD_ID:12910715
8731282	Mfn2	mitofusin 2	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord (rat)	PMID:26079325|REF_RGD_ID:12437066
8731282	Mfn2	mitofusin 2	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:28404953|REF_RGD_ID:12910735
8731282	Mfn2	mitofusin 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26686600|PMID:28251916|PMID:28414270|PMID:28492532|PMID:2926664|PMID:29358271|PMID:30158064|PMID:31589614|PMID:31980526|PMID:33415332|PMID:33502018|PMID:34114234|PMID:34426522|PMID:35468369|PMID:35641312|PMID:37091313|PMID:38887266
8731282	Mfn2	mitofusin 2	gene	DOID:9000304	Manganese Poisoning		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		protein:decreased expression:striatum (rat)	PMID:28232070|REF_RGD_ID:12910738
8731282	Mfn2	mitofusin 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26686600|PMID:28251916|PMID:28414270|PMID:28492532|PMID:2926664|PMID:29358271|PMID:30158064|PMID:31589614|PMID:31980526|PMID:33415332|PMID:33502018|PMID:34114234|PMID:34426522|PMID:35468369|PMID:35641312|PMID:37091313|PMID:38887266
8731282	Mfn2	mitofusin 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991
8731282	Mfn2	mitofusin 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver (rat)	PMID:25369251|REF_RGD_ID:13204798
8731282	Mfn2	mitofusin 2	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:26882442|REF_RGD_ID:12910839
8731282	Mfn2	mitofusin 2	gene	DOID:9001890	Auditory Neuropathy		ISO	RGD:732569	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Auditory neuropathy	
8731282	Mfn2	mitofusin 2	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver (rat)	PMID:24898700|REF_RGD_ID:13204829
8731282	Mfn2	mitofusin 2	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:27363631|REF_RGD_ID:12910833
8731282	Mfn2	mitofusin 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:732569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27997345
8731282	Mfn2	mitofusin 2	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:26123583|PMID:27997345|REF_RGD_ID:11053290|REF_RGD_ID:12910740
8731282	Mfn2	mitofusin 2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:spinal cord (rat)	PMID:28587902|REF_RGD_ID:12910704
8731282	Mfn2	mitofusin 2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:732569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28587902
8731282	Mfn2	mitofusin 2	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart (rat)	PMID:26692091|REF_RGD_ID:11557238
8731282	Mfn2	mitofusin 2	gene	DOID:9003507	Premature Birth		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26686600|PMID:28251916|PMID:28414270|PMID:28492532|PMID:2926664|PMID:29358271|PMID:30158064|PMID:31589614|PMID:31980526|PMID:33415332|PMID:33502018|PMID:34114234|PMID:34426522|PMID:35468369|PMID:35641312|PMID:37091313|PMID:38887266
8731282	Mfn2	mitofusin 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868
8731282	Mfn2	mitofusin 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		associated with Hypertension:protein:decreased expression:heart (rat)	PMID:27085127|REF_RGD_ID:12910835
8731282	Mfn2	mitofusin 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:732569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17499311
8731282	Mfn2	mitofusin 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:732570	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:heart (mouse)	PMID:27565029|REF_RGD_ID:12910768
8731282	Mfn2	mitofusin 2	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:27847271|REF_RGD_ID:12910764
8731282	Mfn2	mitofusin 2	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:732570	D	RGD:9068941	20200609	RGD			PMID:28503736|REF_RGD_ID:12910714
8731282	Mfn2	mitofusin 2	gene	DOID:9003984	Hyperpigmentation		ISO	RGD:732569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperpigmentation	PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991
8731282	Mfn2	mitofusin 2	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26686600|PMID:28251916|PMID:28414270|PMID:28492532|PMID:2926664|PMID:29358271|PMID:30158064|PMID:31589614|PMID:31980526|PMID:33415332|PMID:33502018|PMID:34114234|PMID:34426522|PMID:35468369|PMID:35641312|PMID:37091313|PMID:38887266
8731282	Mfn2	mitofusin 2	gene	DOID:9004484	Sepsis		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:24720571|REF_RGD_ID:13204837
8731282	Mfn2	mitofusin 2	gene	DOID:9004551	Charcot-Marie-Tooth Disease Type 2A2		ISO	RGD:732569	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 | ClinVar Annotator: match by term: HMSN IIA2	PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15136675|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215402|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:23456260|PMID:23733358|PMID:23781337|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24604904|PMID:24627108|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26147798|PMID:26230519|PMID:26257172|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26764160|PMID:26801520|PMID:26955893|PMID:26956144|PMID:26968460|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27553710|PMID:27582484|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30649465|PMID:30659145|PMID:30882371|PMID:31127728|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32483926|PMID:32522799|PMID:32657593|PMID:32963807|PMID:33110000|PMID:33333791|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34103343|PMID:34193129|PMID:34232518|PMID:34354735|PMID:34366782|PMID:34426522|PMID:34721278|PMID:35418194|PMID:35449525|PMID:35936615|PMID:35938991|PMID:36790232|PMID:37091313|PMID:37712079|PMID:37797217|PMID:37927275|PMID:38124143|PMID:39825153|PMID:8406488|PMID:9409358|PMID:9536098
8731282	Mfn2	mitofusin 2	gene	DOID:9004551	Charcot-Marie-Tooth Disease Type 2A2		ISO	RGD:732569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A2	PMID:10732809|PMID:12527753|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21707411|PMID:21715711|PMID:21840889|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22762946|PMID:22851605|PMID:22926664|PMID:23781337|PMID:24033266|PMID:24053775|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24604904|PMID:24627108|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26764160|PMID:26801520|PMID:26955893|PMID:26956144|PMID:26968460|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29266326|PMID:2926664|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29674596|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30649465|PMID:30659145|PMID:30882371|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31589614|PMID:31640251|PMID:31664033|PMID:31701603|PMID:31832804|PMID:31980526|PMID:32376792|PMID:32483926|PMID:32522799|PMID:32963807|PMID:33110000|PMID:33333791|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34103343|PMID:34114234|PMID:34232518|PMID:34366782|PMID:34426522|PMID:34721278|PMID:35177962|PMID:35418194|PMID:35449525|PMID:35468369|PMID:35641312|PMID:35922214|PMID:35938991|PMID:36098092|PMID:36229071|PMID:36790232|PMID:37091313|PMID:37536398|PMID:37712079|PMID:37927275|PMID:38124143|PMID:38183043|PMID:38887266|PMID:9409358
8731282	Mfn2	mitofusin 2	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung (rat)	PMID:25560372|REF_RGD_ID:12437080
8731282	Mfn2	mitofusin 2	gene	DOID:9004739	Cicatrix		ISO	RGD:732569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scarring	PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991
8731282	Mfn2	mitofusin 2	gene	DOID:9004866	Ataxia		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:9005077	Joint Instability		ISO	RGD:732569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:15064763|PMID:15549395|PMID:16437557|PMID:16714318|PMID:17215403|PMID:17296794|PMID:17437620|PMID:18996695|PMID:19812251|PMID:19889647|PMID:20335458|PMID:20350294|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:22492563|PMID:24604904|PMID:25025039|PMID:25741868|PMID:26230519|PMID:26467025|PMID:28492532|PMID:29266326|PMID:29898954|PMID:30340945|PMID:30659145|PMID:30882371|PMID:31186069|PMID:31640251|PMID:31832804|PMID:34103343|PMID:35418194|PMID:9409358
8731282	Mfn2	mitofusin 2	gene	DOID:9005526	Pulmonary Edema of Mountaineers		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung (rat)	PMID:23517027|REF_RGD_ID:12738217
8731282	Mfn2	mitofusin 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
8731282	Mfn2	mitofusin 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle flaccidity	PMID:25741868
8731282	Mfn2	mitofusin 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		protein:increased expression:heart, mitochondrion (rat)	PMID:27998959|REF_RGD_ID:12910739
8731282	Mfn2	mitofusin 2	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:28483572|REF_RGD_ID:12910731
8731282	Mfn2	mitofusin 2	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:lung (rat)	PMID:26485208|REF_RGD_ID:12910856
8731282	Mfn2	mitofusin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:9007102	Myocardial Ischemia	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:27491814|REF_RGD_ID:12910831
8731282	Mfn2	mitofusin 2	gene	DOID:9007114	Mobility Limitation		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26686600|PMID:28251916|PMID:28414270|PMID:28492532|PMID:2926664|PMID:29358271|PMID:30158064|PMID:31589614|PMID:31980526|PMID:33415332|PMID:33502018|PMID:34114234|PMID:34426522|PMID:35468369|PMID:35641312|PMID:37091313|PMID:38887266
8731282	Mfn2	mitofusin 2	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:732569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20886221
8731282	Mfn2	mitofusin 2	gene	DOID:9007573	Flatfoot		ISO	RGD:732569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:18316077|PMID:18425620|PMID:18946002|PMID:18957892|PMID:20008656|PMID:21326314|PMID:21531138|PMID:21840889|PMID:22492563|PMID:24088041|PMID:24957169|PMID:25025039|PMID:25741868|PMID:26307494|PMID:26382835|PMID:26633542|PMID:26633545|PMID:28492532|PMID:28660751|PMID:35177962
8731282	Mfn2	mitofusin 2	gene	DOID:9007661	Dwarfism		ISO	RGD:732569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991
8731282	Mfn2	mitofusin 2	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:24715199|REF_RGD_ID:13204838
8731282	Mfn2	mitofusin 2	gene	DOID:9007697	Charcot-Marie-Tooth Disease Type 6A		ISO	RGD:732569	D	RGD:7240710	20190911	OMIM			
8731282	Mfn2	mitofusin 2	gene	DOID:9007697	Charcot-Marie-Tooth Disease Type 6A		ISO	RGD:732569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY	PMID:15064763|PMID:15549395|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:17437620|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21531138|PMID:21715711|PMID:21840889|PMID:22442078|PMID:22492563|PMID:23781337|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26230519|PMID:26306937|PMID:26307494|PMID:26382835|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26801520|PMID:26955893|PMID:27549087|PMID:27862672|PMID:27863451|PMID:28251916|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29266326|PMID:2926664|PMID:29358271|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30659145|PMID:30882371|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31589614|PMID:31640251|PMID:31832804|PMID:31980526|PMID:32376792|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34103343|PMID:34114234|PMID:34366782|PMID:34426522|PMID:35177962|PMID:35418194|PMID:35468369|PMID:35641312|PMID:35922214|PMID:35938991|PMID:37091313|PMID:38887266|PMID:9409358
8731282	Mfn2	mitofusin 2	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:24721408|REF_RGD_ID:13204835
8731282	Mfn2	mitofusin 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:9008305	Talipes Cavus		ISO	RGD:732569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:15064763|PMID:15549395|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:17215403|PMID:17296794|PMID:17437620|PMID:18458227|PMID:18996695|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:21258814|PMID:21285398|PMID:21508331|PMID:21519004|PMID:22442078|PMID:22492563|PMID:22851605|PMID:22926664|PMID:24033266|PMID:24126688|PMID:24473995|PMID:24604904|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26686600|PMID:26764160|PMID:26801520|PMID:27582484|PMID:28251916|PMID:28414270|PMID:28492532|PMID:29266326|PMID:2926664|PMID:29358271|PMID:29473246|PMID:29674596|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30649465|PMID:30659145|PMID:30882371|PMID:31186069|PMID:31589614|PMID:31640251|PMID:31664033|PMID:31832804|PMID:31980526|PMID:32376792|PMID:32483926|PMID:33333791|PMID:33415332|PMID:33502018|PMID:33841295|PMID:34103343|PMID:34114234|PMID:34426522|PMID:35418194|PMID:35449525|PMID:35468369|PMID:35641312|PMID:37091313|PMID:38887266|PMID:9409358
8731282	Mfn2	mitofusin 2	gene	DOID:9008421	Epistaxis		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:9008563	Charcot-Marie-Tooth Disease, Type 2A		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A	PMID:16043786|PMID:18316077|PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26686600|PMID:28251916|PMID:28414270|PMID:28492532|PMID:2926664|PMID:29358271|PMID:30158064|PMID:31589614|PMID:31980526|PMID:33415332|PMID:33502018|PMID:34114234|PMID:34426522|PMID:35468369|PMID:35641312|PMID:37091313|PMID:38887266
8731282	Mfn2	mitofusin 2	gene	DOID:9008824	Sarcopenia		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		protein:increased expression:extensor digitorum longus  (rat)	PMID:23220115|REF_RGD_ID:12738219
8731282	Mfn2	mitofusin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:913	atrophic muscular disease		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal lower limb amyotrophy	PMID:15549395|PMID:24444136|PMID:25403865|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32963807|PMID:33110000|PMID:33415332
8731282	Mfn2	mitofusin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:9351	diabetes mellitus		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:25741868|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26686600|PMID:28251916|PMID:28414270|PMID:28492532|PMID:2926664|PMID:29358271|PMID:30158064|PMID:31589614|PMID:31980526|PMID:33415332|PMID:33502018|PMID:34114234|PMID:34426522|PMID:35468369|PMID:35641312|PMID:37091313|PMID:38887266
8731282	Mfn2	mitofusin 2	gene	DOID:9452	steatotic liver disease		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver (rat)	PMID:24663492|REF_RGD_ID:12453042
8731282	Mfn2	mitofusin 2	gene	DOID:9477	pulmonary embolism		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary embolism	PMID:25741868
8731282	Mfn2	mitofusin 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532
8731282	Mfn2	mitofusin 2	gene	DOID:971	tendinitis		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tendonitis	PMID:25741868
8731282	Mfn2	mitofusin 2	gene	DOID:9834	hyperopia		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26686600|PMID:28251916|PMID:28414270|PMID:28492532|PMID:2926664|PMID:29358271|PMID:30158064|PMID:31589614|PMID:31980526|PMID:33415332|PMID:33502018|PMID:34114234|PMID:34426522|PMID:35468369|PMID:35641312|PMID:37091313|PMID:38887266
8731282	Mfn2	mitofusin 2	gene	DOID:9970	obesity		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
8731328	Dnajc27	DnaJ heat shock protein family (Hsp40) member C27	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8731328	Dnajc27	DnaJ heat shock protein family (Hsp40) member C27	gene	DOID:1115	sarcoma		ISO	RGD:1602712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8731328	Dnajc27	DnaJ heat shock protein family (Hsp40) member C27	gene	DOID:1324	lung cancer		ISO	RGD:1602712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8731328	Dnajc27	DnaJ heat shock protein family (Hsp40) member C27	gene	DOID:5041	esophageal cancer		ISO	RGD:1602712	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8731328	Dnajc27	DnaJ heat shock protein family (Hsp40) member C27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731328	Dnajc27	DnaJ heat shock protein family (Hsp40) member C27	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8731328	Dnajc27	DnaJ heat shock protein family (Hsp40) member C27	gene	DOID:9970	obesity		ISO	RGD:1602712	D	RGD:9068941	20260312	RGD		DNA:hypermethylation: :	PMID:34207686|REF_RGD_ID:640476589
8731343	Wfdc2	WAP four-disulfide core domain 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8731343	Wfdc2	WAP four-disulfide core domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731343	Wfdc2	WAP four-disulfide core domain 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8731343	Wfdc2	WAP four-disulfide core domain 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1344525	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8731343	Wfdc2	WAP four-disulfide core domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8731343	Wfdc2	WAP four-disulfide core domain 2	gene	DOID:9009205	Bronchiectasis and Nasal Polyposis		ISO	RGD:1344525	D	RGD:7240710	20241023	OMIM			
8731343	Wfdc2	WAP four-disulfide core domain 2	gene	DOID:9009205	Bronchiectasis and Nasal Polyposis		ISO	RGD:1344525	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRONCHIECTASIS AND NASAL POLYPOSIS | ClinVar Annotator: match by term: Bronchiectasis and nasal polyposis	PMID:25741868|PMID:38626355
8731356	Gcsh	glycine cleavage system protein H	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8731356	Gcsh	glycine cleavage system protein H	gene	DOID:0070616	glycine encephalopathy 1		ISO	RGD:1348453	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glycine encephalopathy 1	PMID:25741868
8731356	Gcsh	glycine cleavage system protein H	gene	DOID:0070733	multiple mitochondrial dysfunctions syndrome 7		ISO	RGD:1348453	D	RGD:7240710	20230712	OMIM			
8731356	Gcsh	glycine cleavage system protein H	gene	DOID:0070733	multiple mitochondrial dysfunctions syndrome 7		ISO	RGD:1348453	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: GCSH-related condition | ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 | ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 7	PMID:25741868|PMID:28492532|PMID:33890291|PMID:36190515
8731356	Gcsh	glycine cleavage system protein H	gene	DOID:1324	lung cancer		ISO	RGD:1348453	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8731356	Gcsh	glycine cleavage system protein H	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8731356	Gcsh	glycine cleavage system protein H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731356	Gcsh	glycine cleavage system protein H	gene	DOID:630	genetic disease		ISO	RGD:1348453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8731356	Gcsh	glycine cleavage system protein H	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8731356	Gcsh	glycine cleavage system protein H	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8731356	Gcsh	glycine cleavage system protein H	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:1348453	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver:	PMID:7070876|REF_RGD_ID:12904659
8731356	Gcsh	glycine cleavage system protein H	gene	DOID:9268	glycine encephalopathy		ISO	RGD:1348453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glycine encephalopathy | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33890291|PMID:9536098
8731364	Acly	ATP citrate lyase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:10065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8731364	Acly	ATP citrate lyase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:10065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8731364	Acly	ATP citrate lyase	gene	DOID:10534	stomach cancer		ISO	RGD:10065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8731364	Acly	ATP citrate lyase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:10065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8731364	Acly	ATP citrate lyase	gene	DOID:1324	lung cancer		ISO	RGD:10065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8731364	Acly	ATP citrate lyase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:10065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8731364	Acly	ATP citrate lyase	gene	DOID:4362	cervical cancer		ISO	RGD:10065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8731364	Acly	ATP citrate lyase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:10065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731364	Acly	ATP citrate lyase	gene	DOID:6000	congestive heart failure		ISO	RGD:10065	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26670611
8731364	Acly	ATP citrate lyase	gene	DOID:6039	uveal melanoma		ISO	RGD:10065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8731364	Acly	ATP citrate lyase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:10065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8731364	Acly	ATP citrate lyase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:10065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8731364	Acly	ATP citrate lyase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:10065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8731364	Acly	ATP citrate lyase	gene	DOID:9970	obesity		ISO	RGD:10065	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
8731399	Plppr1	phospholipid phosphatase related 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8731399	Plppr1	phospholipid phosphatase related 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8731399	Plppr1	phospholipid phosphatase related 1	gene	DOID:11832	visual epilepsy		ISO	RGD:1603210	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:23266720
8731399	Plppr1	phospholipid phosphatase related 1	gene	DOID:3275	thymoma		ISO	RGD:1603210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8731399	Plppr1	phospholipid phosphatase related 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8731399	Plppr1	phospholipid phosphatase related 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8731435	Phf21a	PHD finger protein 21A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8731435	Phf21a	PHD finger protein 21A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8731435	Phf21a	PHD finger protein 21A	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1354499	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8731435	Phf21a	PHD finger protein 21A	gene	DOID:1059	intellectual disability		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8731435	Phf21a	PHD finger protein 21A	gene	DOID:10907	microcephaly		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8731435	Phf21a	PHD finger protein 21A	gene	DOID:12849	autistic disorder		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
8731435	Phf21a	PHD finger protein 21A	gene	DOID:1324	lung cancer		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8731435	Phf21a	PHD finger protein 21A	gene	DOID:1826	epilepsy		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8731435	Phf21a	PHD finger protein 21A	gene	DOID:1909	melanoma		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8731435	Phf21a	PHD finger protein 21A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8731435	Phf21a	PHD finger protein 21A	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1354499	D	RGD:9068941	20221215	CTD		CTD Direct Evidence: marker/mechanism	PMID:28811376
8731435	Phf21a	PHD finger protein 21A	gene	DOID:4362	cervical cancer		ISO	RGD:1354499	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8731435	Phf21a	PHD finger protein 21A	gene	DOID:5041	esophageal cancer		ISO	RGD:1354499	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8731435	Phf21a	PHD finger protein 21A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8731435	Phf21a	PHD finger protein 21A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:28492532|PMID:9536098
8731435	Phf21a	PHD finger protein 21A	gene	DOID:630	genetic disease		ISO	RGD:1354499	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8731435	Phf21a	PHD finger protein 21A	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
8731435	Phf21a	PHD finger protein 21A	gene	DOID:9003816	Macrocephaly		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8731435	Phf21a	PHD finger protein 21A	gene	DOID:9004521	Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures		ISO	RGD:1354499	D	RGD:7240710	20200226	OMIM			
8731435	Phf21a	PHD finger protein 21A	gene	DOID:9004521	Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures		ISO	RGD:1354499	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | ClinVar Annotator: match by term: PHF21A-related condition	PMID:22770980|PMID:25741868|PMID:28492532|PMID:2857172|PMID:30487643|PMID:31649809
8731435	Phf21a	PHD finger protein 21A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8731435	Phf21a	PHD finger protein 21A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8731435	Phf21a	PHD finger protein 21A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8731435	Phf21a	PHD finger protein 21A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8731492	B4galt2	beta-1,4-galactosyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8731492	B4galt2	beta-1,4-galactosyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8731492	B4galt2	beta-1,4-galactosyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:1313336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8731492	B4galt2	beta-1,4-galactosyltransferase 2	gene	DOID:1909	melanoma		ISO	RGD:1313336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8731492	B4galt2	beta-1,4-galactosyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313336	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8731492	B4galt2	beta-1,4-galactosyltransferase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8731492	B4galt2	beta-1,4-galactosyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731492	B4galt2	beta-1,4-galactosyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8731492	B4galt2	beta-1,4-galactosyltransferase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1313336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8731511	Mfap1	microfibril associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8731511	Mfap1	microfibril associated protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1321226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8731511	Mfap1	microfibril associated protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1321226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8731511	Mfap1	microfibril associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731511	Mfap1	microfibril associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8731511	Mfap1	microfibril associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8731524	Znf593	zinc finger protein 593	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1320928	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8731524	Znf593	zinc finger protein 593	gene	DOID:9000918	Disease Progression		ISO	RGD:1320928	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8731531	Bin3	bridging integrator 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8731531	Bin3	bridging integrator 3	gene	DOID:0060058	lymphoma		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8731531	Bin3	bridging integrator 3	gene	DOID:1909	melanoma		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8731531	Bin3	bridging integrator 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8731531	Bin3	bridging integrator 3	gene	DOID:3275	thymoma		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8731531	Bin3	bridging integrator 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731531	Bin3	bridging integrator 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8731531	Bin3	bridging integrator 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8731531	Bin3	bridging integrator 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8731531	Bin3	bridging integrator 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8731531	Bin3	bridging integrator 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8731531	Bin3	bridging integrator 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8731544	Aplnr	apelin receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8731544	Aplnr	apelin receptor	gene	DOID:1324	lung cancer		ISO	RGD:733537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8731544	Aplnr	apelin receptor	gene	DOID:5453	pulmonary venoocclusive disease		ISO	RGD:733538	D	RGD:9068941	20260319	MouseDO			
8731544	Aplnr	apelin receptor	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:733538	D	RGD:9068941	20200609	RGD		protein:decreased expression:renal artery	PMID:17692936|REF_RGD_ID:2313945
8731555	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8731555	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8731555	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:0060058	lymphoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8731555	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:10534	stomach cancer		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8731555	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8731555	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:1115	sarcoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8731555	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:1324	lung cancer		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8731555	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:1909	melanoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8731555	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8731555	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8731555	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731555	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8731555	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8731555	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8731571	Nkd1	NKD inhibitor of WNT signaling pathway 1	gene	DOID:1115	sarcoma		ISO	RGD:1318289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8731571	Nkd1	NKD inhibitor of WNT signaling pathway 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8731571	Nkd1	NKD inhibitor of WNT signaling pathway 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731571	Nkd1	NKD inhibitor of WNT signaling pathway 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8731585	Znf831	zinc finger protein 831	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8731585	Znf831	zinc finger protein 831	gene	DOID:0080600	COVID-19		ISO	RGD:1316121	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8731585	Znf831	zinc finger protein 831	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8731585	Znf831	zinc finger protein 831	gene	DOID:1324	lung cancer		ISO	RGD:1316121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8731585	Znf831	zinc finger protein 831	gene	DOID:1909	melanoma		ISO	RGD:1316121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8731585	Znf831	zinc finger protein 831	gene	DOID:3070	high grade glioma		ISO	RGD:1316121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8731585	Znf831	zinc finger protein 831	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8731585	Znf831	zinc finger protein 831	gene	DOID:5041	esophageal cancer		ISO	RGD:1316121	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8731585	Znf831	zinc finger protein 831	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731585	Znf831	zinc finger protein 831	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8731585	Znf831	zinc finger protein 831	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8731598	Glb1l	galactosidase beta 1 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8731598	Glb1l	galactosidase beta 1 like	gene	DOID:1909	melanoma		ISO	RGD:1319832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8731598	Glb1l	galactosidase beta 1 like	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1319832	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
8731598	Glb1l	galactosidase beta 1 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1319832	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8731598	Glb1l	galactosidase beta 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319832	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731598	Glb1l	galactosidase beta 1 like	gene	DOID:6039	uveal melanoma		ISO	RGD:1319832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8731598	Glb1l	galactosidase beta 1 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8731598	Glb1l	galactosidase beta 1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8731640	Psmg3	proteasome assembly chaperone 3	gene	DOID:4362	cervical cancer		ISO	RGD:1601948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8731640	Psmg3	proteasome assembly chaperone 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731640	Psmg3	proteasome assembly chaperone 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8731647	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8731647	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8731647	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8731647	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8731647	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8731647	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:1909	melanoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8731647	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:3070	high grade glioma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8731647	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:3275	thymoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8731647	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8731647	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8731647	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314818	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8731647	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731647	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8731647	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8731647	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8731647	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:0080521	lung non-squamous non-small cell carcinoma		ISO	RGD:1346178	D	RGD:9068941	20241003	RGD		mRNA,protein:increased expression:lung (human)	PMID:25250715|REF_RGD_ID:151347838
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:0081216	autosomal recessive intellectual developmental disorder 54		ISO	RGD:1346178	D	RGD:7240710	20190315	OMIM			
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:0081216	autosomal recessive intellectual developmental disorder 54		ISO	RGD:1346178	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 54 | ClinVar Annotator: match by term: TNIK-related condition	PMID:25741868|PMID:28492532
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:1115	sarcoma		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:1909	melanoma		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:3275	thymoma		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:37	skin disease		ISO	RGD:1346178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1346178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1346178	D	RGD:9068941	20220204	RGD		protein:increased phosphorylation:liver, nucleus (human)	PMID:25160513|REF_RGD_ID:151347837
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:9003566	Mesothelioma		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1346178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:9256	colorectal cancer	ameliorates	ISO	RGD:1558507	D	RGD:9068941	20220204	RGD			PMID:27562646|REF_RGD_ID:151347682
8731686	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1346178	D	RGD:9068941	20220204	RGD		protein:increased expression:colorectum	PMID:26499327|REF_RGD_ID:11530847
8731730	Flvcr2	FLVCR choline and putative heme transporter 2	gene	DOID:0061157	retinopathy-sensory neuropathy syndrome		ISO	RGD:1352163	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: RETINOPATHY-SENSORY NEUROPATHY SYNDROME	PMID:25741868|PMID:28492532
8731730	Flvcr2	FLVCR choline and putative heme transporter 2	gene	DOID:0080600	COVID-19		ISO	RGD:1352163	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8731730	Flvcr2	FLVCR choline and putative heme transporter 2	gene	DOID:0111666	proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome		ISO	RGD:1352163	D	RGD:7240710	20180130	OMIM			
8731730	Flvcr2	FLVCR choline and putative heme transporter 2	gene	DOID:0111666	proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome		ISO	RGD:1352163	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FLVCR2-related condition | ClinVar Annotator: match by term: Fowler syndrome | ClinVar Annotator: match by term: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME | ClinVar Annotator: match by term: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	PMID:20206334|PMID:20690116|PMID:25677735|PMID:25741868|PMID:28492532|PMID:32333401|PMID:32369449|PMID:38302740
8731730	Flvcr2	FLVCR choline and putative heme transporter 2	gene	DOID:10534	stomach cancer		ISO	RGD:1352163	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8731730	Flvcr2	FLVCR choline and putative heme transporter 2	gene	DOID:1909	melanoma		ISO	RGD:1352163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8731730	Flvcr2	FLVCR choline and putative heme transporter 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8731730	Flvcr2	FLVCR choline and putative heme transporter 2	gene	DOID:4362	cervical cancer		ISO	RGD:1352163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8731730	Flvcr2	FLVCR choline and putative heme transporter 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731730	Flvcr2	FLVCR choline and putative heme transporter 2	gene	DOID:630	genetic disease		ISO	RGD:1352163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8731753	Cntn6	contactin 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733383	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8731753	Cntn6	contactin 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8731753	Cntn6	contactin 6	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:733383	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8731753	Cntn6	contactin 6	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:733383	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
8731753	Cntn6	contactin 6	gene	DOID:10534	stomach cancer		ISO	RGD:733383	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8731753	Cntn6	contactin 6	gene	DOID:1115	sarcoma		ISO	RGD:733383	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8731753	Cntn6	contactin 6	gene	DOID:11782	astigmatism		ISO	RGD:733383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:21681106
8731753	Cntn6	contactin 6	gene	DOID:12849	autistic disorder		ISO	RGD:733383	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:21681106|PMID:30208311
8731753	Cntn6	contactin 6	gene	DOID:1324	lung cancer		ISO	RGD:733383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8731753	Cntn6	contactin 6	gene	DOID:13620	patent foramen ovale		ISO	RGD:733383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:21681106
8731753	Cntn6	contactin 6	gene	DOID:1657	ventricular septal defect		ISO	RGD:733383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:21681106
8731753	Cntn6	contactin 6	gene	DOID:1909	melanoma		ISO	RGD:733383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8731753	Cntn6	contactin 6	gene	DOID:3275	thymoma		ISO	RGD:733383	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8731753	Cntn6	contactin 6	gene	DOID:5041	esophageal cancer		ISO	RGD:733383	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8731753	Cntn6	contactin 6	gene	DOID:5419	schizophrenia		ISO	RGD:733383	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
8731753	Cntn6	contactin 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731753	Cntn6	contactin 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733383	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8731753	Cntn6	contactin 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8731753	Cntn6	contactin 6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8731753	Cntn6	contactin 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733383	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8731753	Cntn6	contactin 6	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21681106
8731753	Cntn6	contactin 6	gene	DOID:9008682	Velopharyngeal Insufficiency		ISO	RGD:733383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Velopharyngeal insufficiency	PMID:21681106
8731782	Gpn2	GPN-loop GTPase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8731782	Gpn2	GPN-loop GTPase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8731782	Gpn2	GPN-loop GTPase 2	gene	DOID:1909	melanoma		ISO	RGD:1603309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8731782	Gpn2	GPN-loop GTPase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8731782	Gpn2	GPN-loop GTPase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8731782	Gpn2	GPN-loop GTPase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731782	Gpn2	GPN-loop GTPase 2	gene	DOID:9003326	Perrault Syndrome 1		ISO	RGD:1603309	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Perrault syndrome 1	
8731791	CUNH1orf198	chromosome unknown C1orf198 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1602995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8731791	CUNH1orf198	chromosome unknown C1orf198 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8731791	CUNH1orf198	chromosome unknown C1orf198 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1602995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8731791	CUNH1orf198	chromosome unknown C1orf198 homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8731791	CUNH1orf198	chromosome unknown C1orf198 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731791	CUNH1orf198	chromosome unknown C1orf198 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8731791	CUNH1orf198	chromosome unknown C1orf198 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8731791	CUNH1orf198	chromosome unknown C1orf198 homolog	gene	DOID:9256	colorectal cancer		ISO	RGD:1602995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0050581	brachydactyly		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1348587	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:11179005|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28492532|PMID:9536098
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1348587	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:16783569|PMID:18546297|PMID:23033313|PMID:25741868|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28492532|PMID:29193896|PMID:31373179
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1348587	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:11179005|PMID:11349230|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:19800048|PMID:22353940|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25674159|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28125082|PMID:28289185|PMID:28371265|PMID:28492532|PMID:28831199|PMID:29193896|PMID:29843741|PMID:30401917|PMID:31373179|PMID:33532864|PMID:33825116|PMID:34440443|PMID:34768622|PMID:35112477|PMID:35140360|PMID:35728977|PMID:36704348|PMID:9536098
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:10892847|PMID:11179005|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:20301367|PMID:22619378|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25741868|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28371265|PMID:28492532|PMID:28831199|PMID:29193896|PMID:29843741|PMID:30581852|PMID:31366608|PMID:31373179|PMID:31879361|PMID:33825116|PMID:34440443|PMID:35112477|PMID:37734845|PMID:9536098
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1348587	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:11179005|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:20301367|PMID:22619378|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25741868|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28371265|PMID:28492532|PMID:28831199|PMID:29193896|PMID:29843741|PMID:30581852|PMID:31366608|PMID:31373179|PMID:31879361|PMID:33825116|PMID:34440443|PMID:35112477|PMID:37734845|PMID:9536098
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0060058	lymphoma		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0060248	Simpson-Golabi-Behmel syndrome type 1		ISO	RGD:1348587	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome	PMID:12595504|PMID:18546297|PMID:25741868
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0060316	orofaciodigital syndrome I		ISO	RGD:1348587	D	RGD:7240710	20180130	OMIM			
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0060316	orofaciodigital syndrome I		ISO	RGD:1348587	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OFDS I | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME I | ClinVar Annotator: match by term: Oral-Facial-Digital Syndrome Type I | ClinVar Annotator: match by term: Orofaciodigital syndrome I	PMID:11179005|PMID:12595504|PMID:16199547|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:20301367|PMID:22619378|PMID:23033313|PMID:25741868|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28289185|PMID:28492532|PMID:29193896|PMID:31366608|PMID:31373179|PMID:31879361|PMID:35112477|PMID:9536098
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0060340	ciliopathy		ISO	RGD:1348587	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ciliopathy	PMID:25741868|PMID:28492532
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease	PMID:25741868
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0080342	Simpson-Golabi-Behmel syndrome type 2		ISO	RGD:1348587	D	RGD:7240710	20180130	OMIM			
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0080342	Simpson-Golabi-Behmel syndrome type 2		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 2	PMID:11179005|PMID:11385707|PMID:12595504|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33847015|PMID:35192041|PMID:9536098
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0080918	polymicrogyria		ISO	RGD:1348587	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0110375	retinitis pigmentosa 40		ISO	RGD:1348587	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 40	PMID:11179005|PMID:11950863|PMID:18546297
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0110412	retinitis pigmentosa 23		ISO	RGD:1348587	D	RGD:7240710	20180130	OMIM			
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0110412	retinitis pigmentosa 23		ISO	RGD:1348587	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa 23 | ClinVar Annotator: match by term: Retinitis pigmentosa 23	PMID:17576681|PMID:22619378|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0110622	primary ciliary dyskinesia 9		ISO	RGD:1348587	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis	PMID:16783569|PMID:18546297|PMID:25741868|PMID:27081566|PMID:28492532
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1348587	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:11179005|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25741868|PMID:26092869|PMID:26467025|PMID:27081566|PMID:28289185|PMID:28492532|PMID:9536098
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1348587	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:11179005|PMID:11349230|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:19800048|PMID:22353940|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25674159|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28289185|PMID:28371265|PMID:28492532|PMID:30401917|PMID:35112477|PMID:9536098
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1348587	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:11179005|PMID:11349230|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:19800048|PMID:22353940|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25674159|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28125082|PMID:28289185|PMID:28371265|PMID:28492532|PMID:28831199|PMID:29193896|PMID:29843741|PMID:30401917|PMID:31373179|PMID:33532864|PMID:33825116|PMID:34440443|PMID:34768622|PMID:35112477|PMID:35140360|PMID:35728977|PMID:36704348|PMID:9536098
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1348587	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:23033313|PMID:25741868|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28492532|PMID:9536098
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0110981	Joubert syndrome 10		ISO	RGD:1348587	D	RGD:7240710	20180130	OMIM			
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0110981	Joubert syndrome 10		ISO	RGD:1348587	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 10 | ClinVar Annotator: match by term: Joubert syndrome 10	PMID:16783569|PMID:17576681|PMID:18546297|PMID:25741868|PMID:26092869|PMID:26275793|PMID:26467025|PMID:27081566|PMID:28492532|PMID:28973083|PMID:35728977|PMID:9536098
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0111589	COACH syndrome		ISO	RGD:1348587	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: COACH syndrome	PMID:16783569|PMID:18546297|PMID:23033313|PMID:25741868|PMID:27081566|PMID:28492532|PMID:29193896|PMID:31373179
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:0111783	otopalatodigital syndrome type 1		ISO	RGD:1348587	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16783569
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:10534	stomach cancer		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1348587	D	RGD:9068941	20200609	RGD		DNA, mRNA:frameshift mutation, splice variant:IVS9+706A>G (human)	PMID:22619378|REF_RGD_ID:11535961
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:1059	intellectual disability		ISO	RGD:1348587	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:1074	kidney failure		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kidney failure | ClinVar Annotator: match by term: Renal insufficiency	PMID:16783569|PMID:18546297|PMID:20301367|PMID:25741868|PMID:27081566|PMID:28492532
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:10908	hydrocephalus		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:1115	sarcoma		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:11193	syndactyly		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndactyly	PMID:25741868
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:11476	osteoporosis		ISO	RGD:1348587	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:28289185
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:1324	lung cancer		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:4362	cervical cancer		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:4501	orofaciodigital syndrome		ISO	RGD:1348587	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Orofaciodigital syndrome	PMID:25741868
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1348587	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:5119	ovarian cyst		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cyst	PMID:25741868
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:576	proteinuria		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:16783569|PMID:18546297|PMID:20301367|PMID:25741868|PMID:27081566|PMID:28492532
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:630	genetic disease		ISO	RGD:1348587	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:674	cleft palate		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:784	chronic kidney disease		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:16783569|PMID:18546297|PMID:20301367|PMID:25741868|PMID:27081566|PMID:28492532
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:8466	retinal degeneration		ISO	RGD:1562231	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:retina	PMID:27196396|REF_RGD_ID:11535964
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:8501	fundus dystrophy		ISO	RGD:1348587	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia	
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	PMID:25741868
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1348587	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Peripheral precocious puberty	
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:9007917	Supernumerary Tooth		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Teeth, supernumerary	PMID:25741868
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:9008589	Hallux Valgus		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	PMID:25741868
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:9296	cleft lip		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:25741868
8731795	Ofd1	OFD1 centriole and centriolar satellite protein	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:11179005|PMID:12595504|PMID:16783569|PMID:18414213|PMID:18546297|PMID:25741868|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28492532|PMID:31366608|PMID:31373179|PMID:31879361|PMID:35112477|PMID:35140360
8731827	Tep1	telomerase associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8731827	Tep1	telomerase associated protein 1	gene	DOID:0060058	lymphoma		ISO	RGD:736009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8731827	Tep1	telomerase associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:736009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8731827	Tep1	telomerase associated protein 1	gene	DOID:10534	stomach cancer	susceptibility	ISO	RGD:736009	D	RGD:9068941	20220602	RGD		DNA:SNPs:introns:rs1713423,rs1760893(human)	PMID:27305982|REF_RGD_ID:152977750
8731827	Tep1	telomerase associated protein 1	gene	DOID:1115	sarcoma		ISO	RGD:736009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8731827	Tep1	telomerase associated protein 1	gene	DOID:1324	lung cancer		ISO	RGD:736009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8731827	Tep1	telomerase associated protein 1	gene	DOID:1909	melanoma		ISO	RGD:736009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8731827	Tep1	telomerase associated protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8731827	Tep1	telomerase associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:736009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8731827	Tep1	telomerase associated protein 1	gene	DOID:4928	intrahepatic cholangiocarcinoma		ISO	RGD:736009	D	RGD:9068941	20220602	RGD		mRNA:increased expression:hepatocyte,biliary epithelium.	PMID:10498642|REF_RGD_ID:152977753
8731827	Tep1	telomerase associated protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736009	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8731827	Tep1	telomerase associated protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8731827	Tep1	telomerase associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731827	Tep1	telomerase associated protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8731827	Tep1	telomerase associated protein 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:736009	D	RGD:9068941	20220602	RGD		associated with hepatitis B;DNA:SNPs: :rs1713449,rs1760898, rs872072 (human)	PMID:23907815|REF_RGD_ID:152975963
8731827	Tep1	telomerase associated protein 1	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:736009	D	RGD:9068941	20220602	RGD		DNA:SNP:intron:rs1760893(human)	PMID:27305982|REF_RGD_ID:152977750
8731827	Tep1	telomerase associated protein 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:736009	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11323394
8731827	Tep1	telomerase associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8731827	Tep1	telomerase associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8731827	Tep1	telomerase associated protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8731910	Ephx4	epoxide hydrolase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8731910	Ephx4	epoxide hydrolase 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8731910	Ephx4	epoxide hydrolase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731910	Ephx4	epoxide hydrolase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8731910	Ephx4	epoxide hydrolase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8731910	Ephx4	epoxide hydrolase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8731939	Srp72	signal recognition particle 72	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8731939	Srp72	signal recognition particle 72	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8731939	Srp72	signal recognition particle 72	gene	DOID:10534	stomach cancer		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8731939	Srp72	signal recognition particle 72	gene	DOID:1115	sarcoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8731939	Srp72	signal recognition particle 72	gene	DOID:1324	lung cancer		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8731939	Srp72	signal recognition particle 72	gene	DOID:13580	cholestasis		ISO	RGD:1314481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
8731939	Srp72	signal recognition particle 72	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8731939	Srp72	signal recognition particle 72	gene	DOID:3070	high grade glioma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8731939	Srp72	signal recognition particle 72	gene	DOID:4362	cervical cancer		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8731939	Srp72	signal recognition particle 72	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8731939	Srp72	signal recognition particle 72	gene	DOID:4961	bone marrow disease		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	PMID:25741868|PMID:28492532
8731939	Srp72	signal recognition particle 72	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731939	Srp72	signal recognition particle 72	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8731939	Srp72	signal recognition particle 72	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8731939	Srp72	signal recognition particle 72	gene	DOID:9001587	Bone Marrow Failure Syndrome 1		ISO	RGD:1314481	D	RGD:7240710	20180130	OMIM			
8731939	Srp72	signal recognition particle 72	gene	DOID:9001587	Bone Marrow Failure Syndrome 1		ISO	RGD:1314481	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 1 | ClinVar Annotator: match by term: Bone marrow failure syndrome 1 | ClinVar Annotator: match by term: SRP72-related condition	PMID:17576681|PMID:22541560|PMID:25741868|PMID:28492532|PMID:9536098
8731939	Srp72	signal recognition particle 72	gene	DOID:9004906	Congenital Bone Marrow Failure Syndromes		ISO	RGD:1314481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8731939	Srp72	signal recognition particle 72	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8731939	Srp72	signal recognition particle 72	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8731939	Srp72	signal recognition particle 72	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1314481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
8731939	Srp72	signal recognition particle 72	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8731970	Akirin2	akirin 2	gene	DOID:1324	lung cancer		ISO	RGD:1317188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8731970	Akirin2	akirin 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8731970	Akirin2	akirin 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1307791	D	RGD:9068941	20200609	RGD			PMID:18460465|REF_RGD_ID:2306009
8731970	Akirin2	akirin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8731983	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8731983	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:10762	portal hypertension		ISO	RGD:1323642	D	RGD:9068941	20200609	RGD		protein:increased expression:mesentary	PMID:26627607|REF_RGD_ID:11528851
8731983	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:10762	portal hypertension	treatment	ISO	RGD:1323643	D	RGD:9068941	20200609	RGD			PMID:26627607|REF_RGD_ID:11528851
8731983	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1323642	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:26627607|REF_RGD_ID:11528851
8731983	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1323642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8731983	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:3070	high grade glioma		ISO	RGD:1323642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8731983	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:3275	thymoma		ISO	RGD:1323642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8731983	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8731983	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1323642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8731983	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1323642	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8731983	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:5082	liver cirrhosis		ISO	RGD:1323642	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic; protein:increased expression:liver	PMID:26627607|REF_RGD_ID:11528851
8731983	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8731983	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8731983	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8731983	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8732003	Bpifb3	BPI fold containing family B member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732028	Map3k11	mitogen-activated protein kinase kinase kinase 11	gene	DOID:1324	lung cancer		ISO	RGD:1347603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8732028	Map3k11	mitogen-activated protein kinase kinase kinase 11	gene	DOID:3275	thymoma		ISO	RGD:1347603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8732028	Map3k11	mitogen-activated protein kinase kinase kinase 11	gene	DOID:4362	cervical cancer		ISO	RGD:1347603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8732028	Map3k11	mitogen-activated protein kinase kinase kinase 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732028	Map3k11	mitogen-activated protein kinase kinase kinase 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8732028	Map3k11	mitogen-activated protein kinase kinase kinase 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8732058	Tmem220	transmembrane protein 220	gene	DOID:1115	sarcoma		ISO	RGD:1604450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8732058	Tmem220	transmembrane protein 220	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732067	Dusp3	dual specificity phosphatase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8732067	Dusp3	dual specificity phosphatase 3	gene	DOID:1115	sarcoma		ISO	RGD:1345861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8732067	Dusp3	dual specificity phosphatase 3	gene	DOID:1324	lung cancer		ISO	RGD:1345861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8732067	Dusp3	dual specificity phosphatase 3	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1345861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15496427
8732067	Dusp3	dual specificity phosphatase 3	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2	PMID:38922859
8732073	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8732073	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8732073	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:1115	sarcoma		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8732073	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:1909	melanoma		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8732073	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8732073	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8732073	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732073	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8732073	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8732073	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8732073	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8732119	Cd24	CD24 molecule	gene	DOID:1793	pancreatic cancer		ISO	RGD:736340	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28369074
8732119	Cd24	CD24 molecule	gene	DOID:2377	multiple sclerosis		ISO	RGD:736340	D	RGD:9068941	20200609	RGD			PMID:14657362|REF_RGD_ID:1358462
8732119	Cd24	CD24 molecule	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736340	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8732125	Otor	otoraplin	gene	DOID:1115	sarcoma		ISO	RGD:1313174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8732133	Dnlz	DNL-type zinc finger	gene	DOID:10534	stomach cancer		ISO	RGD:2289758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8732133	Dnlz	DNL-type zinc finger	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2289758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8732158	Nudt8	nudix hydrolase 8	gene	DOID:10534	stomach cancer		ISO	RGD:1319158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8732158	Nudt8	nudix hydrolase 8	gene	DOID:1115	sarcoma		ISO	RGD:1319158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8732158	Nudt8	nudix hydrolase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8732158	Nudt8	nudix hydrolase 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:0050562	West syndrome		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1320604	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: syndromic intellectual disability	PMID:25741868|PMID:28492532
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320604	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:27569545|PMID:28492532
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:0060249	scoliosis		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:0060307	autosomal dominant intellectual developmental disorder		ISO	RGD:1622851	D	RGD:9068941	20220825	MouseDO			
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:0061031	autosomal dominant intellectual developmental disorder 57		ISO	RGD:1320604	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57	PMID:25205402|PMID:25741868|PMID:27075013|PMID:28492532|PMID:31785789
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:0070056	autosomal dominant intellectual developmental disorder 26		ISO	RGD:1320604	D	RGD:7240710	20190315	OMIM			
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:0070056	autosomal dominant intellectual developmental disorder 26		ISO	RGD:1320604	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AUTS2-related condition | ClinVar Annotator: match by term: Autism spectrum disorder due to AUTS2 deficiency | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 26 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 26	PMID:17576681|PMID:22872102|PMID:23332918|PMID:24776741|PMID:25205402|PMID:25741868|PMID:25741869|PMID:27075013|PMID:28492532|PMID:29758562|PMID:31618753|PMID:31785789|PMID:33057194|PMID:35468861|PMID:35982159|PMID:36413997|PMID:9536098
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25205402|PMID:25741868|PMID:27075013|PMID:28492532|PMID:31785789
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:0080600	COVID-19		ISO	RGD:1320604	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:1059	intellectual disability		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: moderate intellectual disability	PMID:23332918|PMID:25205402|PMID:25741868|PMID:27075013|PMID:28492532|PMID:31785789
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:10863	paralytic squint		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paralytic strabismus	PMID:25741868
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:10907	microcephaly		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25205402|PMID:25741868|PMID:27075013|PMID:28492532|PMID:31785789
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:12849	autistic disorder		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:21680558|PMID:21681106|PMID:22872102|PMID:24776741|PMID:25741868|PMID:28492532|PMID:33057194|PMID:35468861|PMID:35982159
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:1826	epilepsy		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25205402|PMID:25533962|PMID:25741868|PMID:27075013|PMID:28191890|PMID:28492532|PMID:31785789
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:3086	gingival overgrowth		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingival overgrowth	PMID:25741868
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:4258	Weissenbacher-Zweymuller syndrome		ISO	RGD:1320604	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pierre Robin-like syndrome	
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320604	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:540	strabismus		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:630	genetic disease		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24776741|PMID:25741868|PMID:28492532|PMID:33057194|PMID:35468861|PMID:35982159|PMID:36413997
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25205402|PMID:25741868|PMID:27075013|PMID:28492532|PMID:31785789
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1320604	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Agenesis of corpus callosum	PMID:31474318
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25205402|PMID:25741868|PMID:27075013|PMID:28492532|PMID:31785789
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:9005616	Micrognathism		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25205402|PMID:25741868|PMID:27075013|PMID:28492532|PMID:31785789
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:9005747	Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability		ISO	RGD:1320604	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	PMID:23332918
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:9007661	Dwarfism		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25205402|PMID:25741868|PMID:28505103
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21681106|PMID:24459036|PMID:24776741|PMID:25205402|PMID:25519132|PMID:25741868|PMID:27075013|PMID:28492532|PMID:28505103|PMID:31785789|PMID:33057194|PMID:35468861|PMID:35982159
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:9008582	Developmental Disease		ISO	RGD:1320604	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:9008811	Tachypnea		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:25741868
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1320604	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30718926
8732173	Auts2	activator of transcription and developmental regulator AUTS2	gene	DOID:9840	esotropia		ISO	RGD:1320604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esodeviation | ClinVar Annotator: match by term: Esotropia	PMID:21681106|PMID:24459036|PMID:25205402|PMID:25519132|PMID:25741868|PMID:27075013|PMID:28492532|PMID:28505103|PMID:31785789
8732197	Matcap1	microtubule associated tyrosine carboxypeptidase 1	gene	DOID:0080600	COVID-19		ISO	RGD:2302259	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8732197	Matcap1	microtubule associated tyrosine carboxypeptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:2302259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8732197	Matcap1	microtubule associated tyrosine carboxypeptidase 1	gene	DOID:1909	melanoma		ISO	RGD:2302259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8732197	Matcap1	microtubule associated tyrosine carboxypeptidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:2302259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8732197	Matcap1	microtubule associated tyrosine carboxypeptidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2302259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732197	Matcap1	microtubule associated tyrosine carboxypeptidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2302259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8732225	Cd40lg	CD40 ligand	gene	DOID:0050169	cutaneous lupus erythematosus		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD			PMID:18050371|REF_RGD_ID:8547765
8732225	Cd40lg	CD40 ligand	gene	DOID:0050175	tick-borne encephalitis		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:16463218|REF_RGD_ID:11352252
8732225	Cd40lg	CD40 ligand	gene	DOID:0050185	erythema multiforme		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD			PMID:18050371|REF_RGD_ID:8547765
8732225	Cd40lg	CD40 ligand	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8732225	Cd40lg	CD40 ligand	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1615151	D	RGD:9068941	20240425	MouseDO			
8732225	Cd40lg	CD40 ligand	gene	DOID:0050731	vitamin B12 deficiency	treatment	ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:16716410|REF_RGD_ID:2313422
8732225	Cd40lg	CD40 ligand	gene	DOID:0050873	follicular lymphoma		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:25582824|REF_RGD_ID:11344981
8732225	Cd40lg	CD40 ligand	gene	DOID:0060022	CD40 ligand deficiency		ISO	RGD:1352959	D	RGD:7240710	20180130	OMIM			
8732225	Cd40lg	CD40 ligand	gene	DOID:0060022	CD40 ligand deficiency		ISO	RGD:1352959	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 1 | ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome	PMID:10366125|PMID:10559240|PMID:11038461|PMID:1427881|PMID:15358621|PMID:15623492|PMID:15924140|PMID:16019685|PMID:22963373|PMID:25215306|PMID:25741868|PMID:26997321|PMID:27189378|PMID:27484504|PMID:28492532|PMID:29525420|PMID:35572607|PMID:35753512|PMID:7679206|PMID:7679801|PMID:7717401|PMID:7916370|PMID:8094231|PMID:8550833|PMID:9150729|PMID:9746782
8732225	Cd40lg	CD40 ligand	gene	DOID:0060022	CD40 ligand deficiency	disease_progression	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:21841160|REF_RGD_ID:5490298
8732225	Cd40lg	CD40 ligand	gene	DOID:0060903	thrombosis		ISO	RGD:1615151	D	RGD:9068941	20200609	RGD		associated with Endotoxemia	PMID:21914625|REF_RGD_ID:5490522
8732225	Cd40lg	CD40 ligand	gene	DOID:0060903	thrombosis	susceptibility	ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (human)	PMID:15306157|REF_RGD_ID:11352250
8732225	Cd40lg	CD40 ligand	gene	DOID:0060903	thrombosis	treatment	ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:27085896|REF_RGD_ID:11344959
8732225	Cd40lg	CD40 ligand	gene	DOID:0070355	overactive bladder syndrome		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:19784793|REF_RGD_ID:7248423
8732225	Cd40lg	CD40 ligand	gene	DOID:0080162	lupus nephritis		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20726330|REF_RGD_ID:7248426
8732225	Cd40lg	CD40 ligand	gene	DOID:0080162	lupus nephritis		ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:11751940|REF_RGD_ID:7248714
8732225	Cd40lg	CD40 ligand	gene	DOID:0080162	lupus nephritis	treatment	ISO	RGD:1352959	D	RGD:9068941	20200609	RGD			PMID:12632425|PMID:15693003|REF_RGD_ID:7248439|REF_RGD_ID:7248710
8732225	Cd40lg	CD40 ligand	gene	DOID:0080162	lupus nephritis	treatment	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:13130474|REF_RGD_ID:7248600
8732225	Cd40lg	CD40 ligand	gene	DOID:0080642	Middle East respiratory syndrome	treatment	ISO	RGD:1615151	D	RGD:9068941	20200626	RGD			PMID:30911758|REF_RGD_ID:32716379
8732225	Cd40lg	CD40 ligand	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:12970789|REF_RGD_ID:11352269
8732225	Cd40lg	CD40 ligand	gene	DOID:10223	dermatomyositis		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD			PMID:18050371|REF_RGD_ID:8547765
8732225	Cd40lg	CD40 ligand	gene	DOID:1040	chronic lymphocytic leukemia		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:9450802|REF_RGD_ID:11522717
8732225	Cd40lg	CD40 ligand	gene	DOID:10591	pre-eclampsia		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:blood platelet (human)	PMID:23241952|REF_RGD_ID:11522719
8732225	Cd40lg	CD40 ligand	gene	DOID:10591	pre-eclampsia	treatment	ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:26310940|REF_RGD_ID:11056772
8732225	Cd40lg	CD40 ligand	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:frontal cortex, astrocyte	PMID:11755016|REF_RGD_ID:8547803
8732225	Cd40lg	CD40 ligand	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:11755016|REF_RGD_ID:8547803
8732225	Cd40lg	CD40 ligand	gene	DOID:10923	sickle cell anemia		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (human)	PMID:24368019|REF_RGD_ID:11352270
8732225	Cd40lg	CD40 ligand	gene	DOID:10976	membranous glomerulonephritis	treatment	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:7564113|REF_RGD_ID:7248720
8732225	Cd40lg	CD40 ligand	gene	DOID:10976	membranous glomerulonephritis	treatment	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD		associated with Lupus Erythematosus, Systemic	PMID:17911451|REF_RGD_ID:7248430
8732225	Cd40lg	CD40 ligand	gene	DOID:1100	ovarian disease	treatment	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD		associated with Autoimmune Diseases	PMID:12574329|REF_RGD_ID:11531132
8732225	Cd40lg	CD40 ligand	gene	DOID:11054	urinary bladder cancer	treatment	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:16361570|REF_RGD_ID:7248437
8732225	Cd40lg	CD40 ligand	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD			PMID:21485068|REF_RGD_ID:5490594
8732225	Cd40lg	CD40 ligand	gene	DOID:11702	dysgammaglobulinemia		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		Hyper-IgM Immunodeficiency Syndrome HIGM1, OMIM:308230	PMID:7678782|REF_RGD_ID:1599480
8732225	Cd40lg	CD40 ligand	gene	DOID:11713	diabetic angiopathy		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:14963650|REF_RGD_ID:2314223
8732225	Cd40lg	CD40 ligand	gene	DOID:1205	allergic disease		ISO	RGD:1352959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8732225	Cd40lg	CD40 ligand	gene	DOID:12132	granulomatosis with polyangiitis		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD			PMID:21411717|REF_RGD_ID:5490596
8732225	Cd40lg	CD40 ligand	gene	DOID:12134	factor VIII deficiency	treatment	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:11776297|REF_RGD_ID:11352263
8732225	Cd40lg	CD40 ligand	gene	DOID:12177	common variable immunodeficiency		ISO	RGD:1352959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Common variable immunodeficiency	PMID:25741868|PMID:28492532|PMID:32499645
8732225	Cd40lg	CD40 ligand	gene	DOID:12361	Graves' disease	treatment	ISO	RGD:1352959	D	RGD:9068941	20200609	RGD			PMID:8875745|REF_RGD_ID:8547747
8732225	Cd40lg	CD40 ligand	gene	DOID:12365	malaria	severity	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:11485931|REF_RGD_ID:11352239
8732225	Cd40lg	CD40 ligand	gene	DOID:12449	aplastic anemia		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum (human)	PMID:22537155|REF_RGD_ID:11352267
8732225	Cd40lg	CD40 ligand	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic	PMID:17314326|REF_RGD_ID:7248433
8732225	Cd40lg	CD40 ligand	gene	DOID:1287	cardiovascular system disease	severity	ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic;protein:increased expression:plasma	PMID:21303961|REF_RGD_ID:7248722
8732225	Cd40lg	CD40 ligand	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:salivary ductal epithelium (human)	PMID:12472667|REF_RGD_ID:11520791
8732225	Cd40lg	CD40 ligand	gene	DOID:13133	HELLP syndrome		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:blood platelet (human)	PMID:23241952|REF_RGD_ID:11522719
8732225	Cd40lg	CD40 ligand	gene	DOID:13139	crescentic glomerulonephritis	treatment	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:14569091|REF_RGD_ID:7248599
8732225	Cd40lg	CD40 ligand	gene	DOID:13241	Behcet's disease		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:22116092|REF_RGD_ID:8547820
8732225	Cd40lg	CD40 ligand	gene	DOID:13378	Kawasaki disease	treatment	ISO	RGD:1352959	D	RGD:9068941	20200609	RGD			PMID:12563087|REF_RGD_ID:11352236
8732225	Cd40lg	CD40 ligand	gene	DOID:13922	eosinophilic esophagitis		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:21211656|REF_RGD_ID:5490306
8732225	Cd40lg	CD40 ligand	gene	DOID:1485	cystic fibrosis		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:15102009|REF_RGD_ID:7248443
8732225	Cd40lg	CD40 ligand	gene	DOID:1588	thrombocytopenia	treatment	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD		associated with Malaria	PMID:11865192|REF_RGD_ID:11352243
8732225	Cd40lg	CD40 ligand	gene	DOID:1826	epilepsy		ISO	RGD:1352959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10366125|PMID:15358621|PMID:28492532|PMID:35753512|PMID:8094231
8732225	Cd40lg	CD40 ligand	gene	DOID:1936	atherosclerosis		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:21817131|REF_RGD_ID:7248421
8732225	Cd40lg	CD40 ligand	gene	DOID:1936	atherosclerosis		ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:20705757|REF_RGD_ID:5490529
8732225	Cd40lg	CD40 ligand	gene	DOID:1936	atherosclerosis		ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:16317521|REF_RGD_ID:1582628
8732225	Cd40lg	CD40 ligand	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:26261622|REF_RGD_ID:11344965
8732225	Cd40lg	CD40 ligand	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:708418	D	RGD:9068941	20200609	RGD		associated with Hypercholesterolemia	PMID:23984971|REF_RGD_ID:8547801
8732225	Cd40lg	CD40 ligand	gene	DOID:2224	essential thrombocythemia		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:22196954|REF_RGD_ID:11344979
8732225	Cd40lg	CD40 ligand	gene	DOID:224	transient cerebral ischemia	severity	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:15795333|REF_RGD_ID:11352234
8732225	Cd40lg	CD40 ligand	gene	DOID:2527	nephrosis		ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:19889873|REF_RGD_ID:7248422
8732225	Cd40lg	CD40 ligand	gene	DOID:2841	asthma	severity	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:9502776|REF_RGD_ID:11352238
8732225	Cd40lg	CD40 ligand	gene	DOID:2957	pulmonary tuberculosis	sexual_dimorphism	ISO	RGD:1348457	D	RGD:9068941	20260108	RGD		DNA: SNP: :rs3092923	PMID:26043172|REF_RGD_ID:11099044
8732225	Cd40lg	CD40 ligand	gene	DOID:2957	pulmonary tuberculosis	sexual_dimorphism	ISO	RGD:1352959	D	RGD:9068941	20260108	RGD		DNA: SNP: :rs3092923	PMID:26043172|REF_RGD_ID:11099044
8732225	Cd40lg	CD40 ligand	gene	DOID:2957	pulmonary tuberculosis	sexual_dimorphism	ISO	RGD:1605396	D	RGD:9068941	20260108	RGD		DNA: SNP: :rs3092923	PMID:26043172|REF_RGD_ID:11099044
8732225	Cd40lg	CD40 ligand	gene	DOID:2957	pulmonary tuberculosis	sexual_dimorphism	ISO	RGD:1605396, RGD:1348457	D	RGD:9068941	20260108	RGD		DNA: SNP: :rs3092923	PMID:26043172|REF_RGD_ID:11099044
8732225	Cd40lg	CD40 ligand	gene	DOID:2988	antiphospholipid syndrome		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD			PMID:16188945|REF_RGD_ID:11344980
8732225	Cd40lg	CD40 ligand	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1352959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20348957
8732225	Cd40lg	CD40 ligand	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:20348957|REF_RGD_ID:5490547
8732225	Cd40lg	CD40 ligand	gene	DOID:3388	periodontal disease		ISO	RGD:708418	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lymph node, B cell, T cell	PMID:20618701|REF_RGD_ID:5024938
8732225	Cd40lg	CD40 ligand	gene	DOID:3393	coronary artery disease		ISO	RGD:1352959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16368305
8732225	Cd40lg	CD40 ligand	gene	DOID:3393	coronary artery disease		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic	PMID:16494885|REF_RGD_ID:7248436
8732225	Cd40lg	CD40 ligand	gene	DOID:3393	coronary artery disease		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		associated with Mucocutaneous Lymph Node Syndrome;DNA:SNP: :rs4810485 (human)	PMID:22645426|REF_RGD_ID:8547776
8732225	Cd40lg	CD40 ligand	gene	DOID:3393	coronary artery disease		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17635572|REF_RGD_ID:2314209
8732225	Cd40lg	CD40 ligand	gene	DOID:3393	coronary artery disease		ISO	RGD:708418	D	RGD:9068941	20200609	RGD		protein:increased expression:coronary artery, serum	PMID:23819214|REF_RGD_ID:7248750
8732225	Cd40lg	CD40 ligand	gene	DOID:3407	carotid artery disease		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum	PMID:16752185|REF_RGD_ID:2314211
8732225	Cd40lg	CD40 ligand	gene	DOID:3407	carotid artery disease	disease_progression	ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:platelet	PMID:15817881|REF_RGD_ID:2314188
8732225	Cd40lg	CD40 ligand	gene	DOID:417	autoimmune disease		ISO	RGD:1352959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15494542
8732225	Cd40lg	CD40 ligand	gene	DOID:417	autoimmune disease		ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:11535630|PMID:21414847|REF_RGD_ID:5490595|REF_RGD_ID:8547751
8732225	Cd40lg	CD40 ligand	gene	DOID:4362	cervical cancer		ISO	RGD:1352959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8732225	Cd40lg	CD40 ligand	gene	DOID:4481	allergic rhinitis		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:lymphocyte	PMID:19086656|REF_RGD_ID:8547782
8732225	Cd40lg	CD40 ligand	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:15458437|REF_RGD_ID:5508170
8732225	Cd40lg	CD40 ligand	gene	DOID:5050	Ehrlich tumor carcinoma	treatment	ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:19269163|REF_RGD_ID:11352683
8732225	Cd40lg	CD40 ligand	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD			PMID:21177803|REF_RGD_ID:5490598
8732225	Cd40lg	CD40 ligand	gene	DOID:552	pneumonia		ISO	RGD:1352959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8732225	Cd40lg	CD40 ligand	gene	DOID:557	kidney disease	treatment	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:12969144|REF_RGD_ID:7248601
8732225	Cd40lg	CD40 ligand	gene	DOID:576	proteinuria		ISO	RGD:1352959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: proteinuria	PMID:25741868
8732225	Cd40lg	CD40 ligand	gene	DOID:5844	myocardial infarction		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17635572|REF_RGD_ID:2314209
8732225	Cd40lg	CD40 ligand	gene	DOID:6000	congestive heart failure		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15716285|REF_RGD_ID:2314219
8732225	Cd40lg	CD40 ligand	gene	DOID:628	combined T cell and B cell immunodeficiency		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.G219R (human)	PMID:21543760|REF_RGD_ID:5490593
8732225	Cd40lg	CD40 ligand	gene	DOID:630	genetic disease		ISO	RGD:1352959	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10366125|PMID:15358621|PMID:28492532|PMID:35753512|PMID:8094231
8732225	Cd40lg	CD40 ligand	gene	DOID:635	acquired immunodeficiency syndrome	treatment	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:9499800|REF_RGD_ID:11344976
8732225	Cd40lg	CD40 ligand	gene	DOID:6364	migraine		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21331754|REF_RGD_ID:5490597
8732225	Cd40lg	CD40 ligand	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1352959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15302794
8732225	Cd40lg	CD40 ligand	gene	DOID:6432	pulmonary hypertension		ISO	RGD:708418	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (rat)	PMID:25998782|REF_RGD_ID:11344970
8732225	Cd40lg	CD40 ligand	gene	DOID:6620	X-linked hyper IgM syndrome		ISO	RGD:1352959	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyper IgM Syndrome Type 1 | ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 | ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome | ClinVar Annotator: match by term: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 1 | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome	PMID:10366125|PMID:10484640|PMID:10559240|PMID:11038461|PMID:11158612|PMID:11850600|PMID:12823286|PMID:1427881|PMID:14514918|PMID:14641931|PMID:15319456|PMID:15358621|PMID:15623492|PMID:15924140|PMID:16019685|PMID:16169277|PMID:16199547|PMID:16509032|PMID:17351759|PMID:17553565|PMID:17576681|PMID:18805740|PMID:18955577|PMID:19575287|PMID:20591076|PMID:20625427|PMID:20981468|PMID:22009004|PMID:22193914|PMID:22928961|PMID:22963373|PMID:23653974|PMID:24402618|PMID:24768948|PMID:24929972|PMID:25215306|PMID:25541662|PMID:25741868|PMID:26545377|PMID:26997321|PMID:27189378|PMID:27324886|PMID:27484504|PMID:28492532|PMID:28916186|PMID:29077208|PMID:29245273|PMID:29303623|PMID:29525420|PMID:30053428|PMID:30405923|PMID:31117086|PMID:31179555|PMID:31331973|PMID:32135276|PMID:32888943|PMID:33060515|PMID:34114358|PMID:34335625|PMID:34982304|PMID:35570134|PMID:35572607|PMID:35753512|PMID:35874699|PMID:36478253|PMID:7679206|PMID:7679801|PMID:7717401|PMID:7906987|PMID:7907793|PMID:7916370|PMID:8094231|PMID:8550833|PMID:8589998|PMID:8889581|PMID:9150729|PMID:9536098|PMID:9746782
8732225	Cd40lg	CD40 ligand	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:19016771|REF_RGD_ID:2313413
8732225	Cd40lg	CD40 ligand	gene	DOID:783	end stage renal disease		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19019166|REF_RGD_ID:7248427
8732225	Cd40lg	CD40 ligand	gene	DOID:809	cocaine abuse	severity	ISO	RGD:1352959	D	RGD:9068941	20230902	RGD			PMID:21806491|REF_RGD_ID:401794583
8732225	Cd40lg	CD40 ligand	gene	DOID:824	periodontitis		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:22523383|REF_RGD_ID:11352302
8732225	Cd40lg	CD40 ligand	gene	DOID:8283	peritonitis		ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:15780086|REF_RGD_ID:7248438
8732225	Cd40lg	CD40 ligand	gene	DOID:8566	herpes simplex		ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:11134274|REF_RGD_ID:8547770
8732225	Cd40lg	CD40 ligand	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:1352959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7621881|PMID:8656679
8732225	Cd40lg	CD40 ligand	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:708418	D	RGD:9068941	20200609	RGD		protein:decreased expression:ileum	PMID:21240009|REF_RGD_ID:5490305
8732225	Cd40lg	CD40 ligand	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD			PMID:16188945|REF_RGD_ID:11344980
8732225	Cd40lg	CD40 ligand	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood, T lymphocyte (human)	PMID:17654056|REF_RGD_ID:11344977
8732225	Cd40lg	CD40 ligand	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:1615151	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum (mouse)	PMID:22537155|REF_RGD_ID:11352267
8732225	Cd40lg	CD40 ligand	gene	DOID:8924	autoimmune thrombocytopenic purpura	treatment	ISO	RGD:1352959	D	RGD:9068941	20200609	RGD			PMID:18341638|REF_RGD_ID:11352237
8732225	Cd40lg	CD40 ligand	gene	DOID:8986	narcolepsy		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum (human)	PMID:21669245|REF_RGD_ID:11352261
8732225	Cd40lg	CD40 ligand	gene	DOID:9000053	Headache		ISO	RGD:1352959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:10366125|PMID:15358621|PMID:28492532|PMID:35753512|PMID:8094231
8732225	Cd40lg	CD40 ligand	gene	DOID:9000469	Viral Myocarditis	treatment	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:19914091|PMID:9721703|REF_RGD_ID:13702885|REF_RGD_ID:13702888
8732225	Cd40lg	CD40 ligand	gene	DOID:9000469	Viral Myocarditis	treatment	ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:11945021|REF_RGD_ID:13702886
8732225	Cd40lg	CD40 ligand	gene	DOID:9000528	Coronary Disease	treatment	ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:23819214|REF_RGD_ID:7248750
8732225	Cd40lg	CD40 ligand	gene	DOID:9000656	Penetrating Wounds	treatment	ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:25153915|REF_RGD_ID:11352274
8732225	Cd40lg	CD40 ligand	gene	DOID:9000784	Fibrosis	treatment	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:17823201|REF_RGD_ID:8547759
8732225	Cd40lg	CD40 ligand	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:708418	D	RGD:9068941	20200609	RGD		protein:increased expression:platelet (rat)	PMID:21574786|REF_RGD_ID:7248754
8732225	Cd40lg	CD40 ligand	gene	DOID:9000808	Hypercholesterolemia	treatment	ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:18787388|REF_RGD_ID:7248428
8732225	Cd40lg	CD40 ligand	gene	DOID:9000808	Hypercholesterolemia	treatment	ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:26950185|REF_RGD_ID:11344960
8732225	Cd40lg	CD40 ligand	gene	DOID:9000998	Brain Injuries		ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:11755016|REF_RGD_ID:8547803
8732225	Cd40lg	CD40 ligand	gene	DOID:9000998	Brain Injuries	treatment	ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:25972624|REF_RGD_ID:11344972
8732225	Cd40lg	CD40 ligand	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:19035311|REF_RGD_ID:5491179
8732225	Cd40lg	CD40 ligand	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		associated with Anxiety Disorders;protein:increased expression:serum	PMID:20170788|REF_RGD_ID:5490548
8732225	Cd40lg	CD40 ligand	gene	DOID:9001686	Acute Coronary Syndrome	treatment	ISO	RGD:1352959	D	RGD:9068941	20200609	RGD			PMID:31624788|REF_RGD_ID:21081509
8732225	Cd40lg	CD40 ligand	gene	DOID:9002153	Chronic Allograft Dysfunction	treatment	ISO	RGD:708418	D	RGD:9068941	20200609	RGD		liver	PMID:22826618|REF_RGD_ID:11352297
8732225	Cd40lg	CD40 ligand	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:serum	PMID:18756582|REF_RGD_ID:2314208
8732225	Cd40lg	CD40 ligand	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		mouse-human chimeric gene in human	PMID:20882050|REF_RGD_ID:11352235
8732225	Cd40lg	CD40 ligand	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1615151	D	RGD:9068941	20200609	RGD		mouse-human chimeric gene in human	PMID:20882050|REF_RGD_ID:11352235
8732225	Cd40lg	CD40 ligand	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:7689748|REF_RGD_ID:11352696
8732225	Cd40lg	CD40 ligand	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:708418	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:22611405|REF_RGD_ID:11352298
8732225	Cd40lg	CD40 ligand	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:27218142|REF_RGD_ID:11344958
8732225	Cd40lg	CD40 ligand	gene	DOID:9002549	Shock		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:20490890|REF_RGD_ID:5490973
8732225	Cd40lg	CD40 ligand	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:20400704|REF_RGD_ID:4891397
8732225	Cd40lg	CD40 ligand	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:20378141|REF_RGD_ID:5490978
8732225	Cd40lg	CD40 ligand	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:20659085|REF_RGD_ID:5490531
8732225	Cd40lg	CD40 ligand	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:12388354|REF_RGD_ID:5508171
8732225	Cd40lg	CD40 ligand	gene	DOID:9004203	Chromosome Breakage		ISO	RGD:1352959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27634759
8732225	Cd40lg	CD40 ligand	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD			PMID:22948742|REF_RGD_ID:7248420
8732225	Cd40lg	CD40 ligand	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, T cell	PMID:10949194|REF_RGD_ID:7248719
8732225	Cd40lg	CD40 ligand	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:15808676|REF_RGD_ID:8547783
8732225	Cd40lg	CD40 ligand	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:708418	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus	PMID:15016184|REF_RGD_ID:7248598
8732225	Cd40lg	CD40 ligand	gene	DOID:9004397	Calcification of Aortic Valve	treatment	ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:24374105|REF_RGD_ID:11352276
8732225	Cd40lg	CD40 ligand	gene	DOID:9004484	Sepsis		ISO	RGD:708418	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart (rat)	PMID:20933523|REF_RGD_ID:11352671
8732225	Cd40lg	CD40 ligand	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:708418	D	RGD:9068941	20200609	RGD		protein:increased expression:platelet (rat)	PMID:19237211|REF_RGD_ID:2312338
8732225	Cd40lg	CD40 ligand	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:21831422|REF_RGD_ID:11352661
8732225	Cd40lg	CD40 ligand	gene	DOID:9005749	Necrosis		ISO	RGD:1352959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22295117
8732225	Cd40lg	CD40 ligand	gene	DOID:9005837	Cholangiofibrosis	treatment	ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:23820408|REF_RGD_ID:11352285
8732225	Cd40lg	CD40 ligand	gene	DOID:9006332	Vascular Calcification		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		associated with Coronary Artery Disease	PMID:16494885|REF_RGD_ID:7248436
8732225	Cd40lg	CD40 ligand	gene	DOID:9006623	Murine Acquired Immunodeficiency Syndrome	treatment	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:8642687|REF_RGD_ID:11520796
8732225	Cd40lg	CD40 ligand	gene	DOID:9006642	Experimental Autoimmune Uveoretinitis	treatment	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:15972638|REF_RGD_ID:8547777
8732225	Cd40lg	CD40 ligand	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD			PMID:20006362|REF_RGD_ID:5490591
8732225	Cd40lg	CD40 ligand	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16423632|REF_RGD_ID:2314214
8732225	Cd40lg	CD40 ligand	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:17188497|REF_RGD_ID:5491181
8732225	Cd40lg	CD40 ligand	gene	DOID:9006709	Primary Graft Dysfunction	treatment	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:12244161|REF_RGD_ID:7248713
8732225	Cd40lg	CD40 ligand	gene	DOID:9006779	Discoid Lupus Erythematosus		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD			PMID:18050371|REF_RGD_ID:8547765
8732225	Cd40lg	CD40 ligand	gene	DOID:9006939	Lyme Neuroborreliosis		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:16463218|REF_RGD_ID:11352252
8732225	Cd40lg	CD40 ligand	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8732225	Cd40lg	CD40 ligand	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:708418	D	RGD:9068941	20200609	RGD		protein:increased expression:myocardium (rat)	PMID:19204010|REF_RGD_ID:11352684
8732225	Cd40lg	CD40 ligand	gene	DOID:9007102	Myocardial Ischemia	treatment	ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:19565716|REF_RGD_ID:11352677
8732225	Cd40lg	CD40 ligand	gene	DOID:9007110	Subacute Combined Degeneration		ISO	RGD:708418	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:16716410|REF_RGD_ID:2313422
8732225	Cd40lg	CD40 ligand	gene	DOID:9007110	Subacute Combined Degeneration	treatment	ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:16716410|REF_RGD_ID:2313422
8732225	Cd40lg	CD40 ligand	gene	DOID:9007355	Hashimoto Disease		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17558708|REF_RGD_ID:8547767
8732225	Cd40lg	CD40 ligand	gene	DOID:9008023	Memory Disorders		ISO	RGD:1352959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:10366125|PMID:15358621|PMID:28492532|PMID:35753512|PMID:8094231
8732225	Cd40lg	CD40 ligand	gene	DOID:9008286	Experimental Autoimmune Myasthenia Gravis	treatment	ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:11359850|REF_RGD_ID:8547800
8732225	Cd40lg	CD40 ligand	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8732225	Cd40lg	CD40 ligand	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1352959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28793932
8732225	Cd40lg	CD40 ligand	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20726330|REF_RGD_ID:7248426
8732225	Cd40lg	CD40 ligand	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:9036998|REF_RGD_ID:11352248
8732225	Cd40lg	CD40 ligand	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1615151	D	RGD:9068941	20240425	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
8732225	Cd40lg	CD40 ligand	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:14573667|REF_RGD_ID:8547750
8732225	Cd40lg	CD40 ligand	gene	DOID:9182	pemphigus		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:skin, serum	PMID:17531537|REF_RGD_ID:8547773
8732225	Cd40lg	CD40 ligand	gene	DOID:9201	lichen planus		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD			PMID:18050371|REF_RGD_ID:8547765
8732225	Cd40lg	CD40 ligand	gene	DOID:9351	diabetes mellitus		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		associated with Coronary Arteriosclerosis, Myocardial Infarction; protein:increased expression:serum	PMID:17635572|REF_RGD_ID:2314209
8732225	Cd40lg	CD40 ligand	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		associated with non-alcoholic steatohepatitis;mRNA:increased expression:visceral abdominal adipose tissue	PMID:19280268|REF_RGD_ID:5688143
8732225	Cd40lg	CD40 ligand	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16423632|REF_RGD_ID:2314214
8732225	Cd40lg	CD40 ligand	gene	DOID:9538	multiple myeloma	disease_progression	ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:27243341|REF_RGD_ID:11352268
8732225	Cd40lg	CD40 ligand	gene	DOID:9538	multiple myeloma	treatment	ISO	RGD:1352959	D	RGD:9068941	20200609	RGD			PMID:22403003|REF_RGD_ID:11352251
8732225	Cd40lg	CD40 ligand	gene	DOID:9538	multiple myeloma	treatment	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:15565183|REF_RGD_ID:11352240
8732225	Cd40lg	CD40 ligand	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16505242|REF_RGD_ID:2314212
8732225	Cd40lg	CD40 ligand	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:15448088|REF_RGD_ID:2314220
8732225	Cd40lg	CD40 ligand	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:16611325|REF_RGD_ID:5491182
8732225	Cd40lg	CD40 ligand	gene	DOID:9744	type 1 diabetes mellitus	treatment	ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:26716812|REF_RGD_ID:11344963
8732225	Cd40lg	CD40 ligand	gene	DOID:9744	type 1 diabetes mellitus	treatment	ISO	RGD:708418	D	RGD:9068941	20200609	RGD			PMID:12419284|REF_RGD_ID:8547798
8732225	Cd40lg	CD40 ligand	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:9292526|REF_RGD_ID:11352271
8732225	Cd40lg	CD40 ligand	gene	DOID:9970	obesity		ISO	RGD:1352959	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20660932|REF_RGD_ID:5490970
8732225	Cd40lg	CD40 ligand	gene	DOID:9970	obesity		ISO	RGD:1615151	D	RGD:9068941	20200609	RGD			PMID:21817098|REF_RGD_ID:5490592
8732234	Znf423	zinc finger protein 423	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8732234	Znf423	zinc finger protein 423	gene	DOID:0060340	ciliopathy		ISO	RGD:1344492	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ciliopathy	PMID:25741868|PMID:28492532
8732234	Znf423	zinc finger protein 423	gene	DOID:0111122	nephronophthisis 14		ISO	RGD:1344492	D	RGD:7240710	20180130	OMIM			
8732234	Znf423	zinc finger protein 423	gene	DOID:0111122	nephronophthisis 14		ISO	RGD:1344492	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 19 | ClinVar Annotator: match by term: NEPHRONOPHTHISIS 14 | ClinVar Annotator: match by term: Nephronophthisis 14 | ClinVar Annotator: match by term: ZNF423-related condition	PMID:17576681|PMID:22863007|PMID:25741868|PMID:26539891|PMID:28106320|PMID:28492532|PMID:30868567|PMID:32723786|PMID:32925911|PMID:9536098
8732234	Znf423	zinc finger protein 423	gene	DOID:10534	stomach cancer		ISO	RGD:1344492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8732234	Znf423	zinc finger protein 423	gene	DOID:1115	sarcoma		ISO	RGD:1344492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8732234	Znf423	zinc finger protein 423	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:734395	D	RGD:9068941	20220825	MouseDO		OMIM:220200	
8732234	Znf423	zinc finger protein 423	gene	DOID:2786	cerebellar disease		ISO	RGD:734395	D	RGD:9068941	20220825	MouseDO			
8732234	Znf423	zinc finger protein 423	gene	DOID:3070	high grade glioma		ISO	RGD:1344492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8732234	Znf423	zinc finger protein 423	gene	DOID:5723	optic atrophy		ISO	RGD:1344492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8732234	Znf423	zinc finger protein 423	gene	DOID:670	amphetamine abuse		ISO	RGD:1344492	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
8732234	Znf423	zinc finger protein 423	gene	DOID:8501	fundus dystrophy		ISO	RGD:1344492	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532|PMID:30868567
8732268	Fzd3	frizzled class receptor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8732268	Fzd3	frizzled class receptor 3	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:732935	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:31474318
8732268	Fzd3	frizzled class receptor 3	gene	DOID:1909	melanoma		ISO	RGD:732935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8732268	Fzd3	frizzled class receptor 3	gene	DOID:1928	Williams-Beuren syndrome		ISO	RGD:732935	D	RGD:9068941	20200609	RGD		maps to 2 Mb in chromosome band 7q11.23 deleted in WS	PMID:9147651|REF_RGD_ID:1582654
8732268	Fzd3	frizzled class receptor 3	gene	DOID:3275	thymoma		ISO	RGD:732935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8732268	Fzd3	frizzled class receptor 3	gene	DOID:5419	schizophrenia		ISO	RGD:732935	D	RGD:9068941	20200609	RGD		IVS3+258T>C polymorphism and/or IVS3+258T&#8722;435G haplotype in a Japanese population	PMID:14642436|REF_RGD_ID:1582649
8732268	Fzd3	frizzled class receptor 3	gene	DOID:5419	schizophrenia		ISO	RGD:732935	D	RGD:9068941	20200609	RGD		SNPs rs2323019 or rs880481 and/or three-locus haplotype ATG or GCG for SNPs rs2323019-rs352203-rs880481; Chinese Han population	PMID:15274031|REF_RGD_ID:1582650
8732268	Fzd3	frizzled class receptor 3	gene	DOID:5419	schizophrenia	no_association	ISO	RGD:732935	D	RGD:9068941	20200609	RGD		SNPs rs960914, rs2241802, rs2323019 and rs352203; Japanese population	PMID:15657645|REF_RGD_ID:1582651
8732268	Fzd3	frizzled class receptor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732268	Fzd3	frizzled class receptor 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:732935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8732268	Fzd3	frizzled class receptor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8732268	Fzd3	frizzled class receptor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8732268	Fzd3	frizzled class receptor 3	gene	DOID:9256	colorectal cancer		ISO	RGD:732935	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8732290	Tmem134	transmembrane protein 134	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8732290	Tmem134	transmembrane protein 134	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8732290	Tmem134	transmembrane protein 134	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8732290	Tmem134	transmembrane protein 134	gene	DOID:1324	lung cancer		ISO	RGD:1604784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8732290	Tmem134	transmembrane protein 134	gene	DOID:3275	thymoma		ISO	RGD:1604784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8732290	Tmem134	transmembrane protein 134	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8732290	Tmem134	transmembrane protein 134	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732290	Tmem134	transmembrane protein 134	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8732307	Taok3	TAO kinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8732307	Taok3	TAO kinase 3	gene	DOID:10283	prostate cancer		ISO	RGD:1605388	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
8732307	Taok3	TAO kinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8732307	Taok3	TAO kinase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8732307	Taok3	TAO kinase 3	gene	DOID:1324	lung cancer		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8732307	Taok3	TAO kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8732307	Taok3	TAO kinase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8732307	Taok3	TAO kinase 3	gene	DOID:3275	thymoma		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8732307	Taok3	TAO kinase 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8732307	Taok3	TAO kinase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8732307	Taok3	TAO kinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1605388	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8732307	Taok3	TAO kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732307	Taok3	TAO kinase 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8732307	Taok3	TAO kinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8732307	Taok3	TAO kinase 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605388	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8732307	Taok3	TAO kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8732307	Taok3	TAO kinase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8732335	Napg	NSF attachment protein gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8732335	Napg	NSF attachment protein gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1320824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8732335	Napg	NSF attachment protein gamma	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8732335	Napg	NSF attachment protein gamma	gene	DOID:3070	high grade glioma		ISO	RGD:1320824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8732335	Napg	NSF attachment protein gamma	gene	DOID:4362	cervical cancer		ISO	RGD:1320824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8732335	Napg	NSF attachment protein gamma	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8732335	Napg	NSF attachment protein gamma	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8732335	Napg	NSF attachment protein gamma	gene	DOID:5041	esophageal cancer		ISO	RGD:1320824	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8732335	Napg	NSF attachment protein gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732335	Napg	NSF attachment protein gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8732335	Napg	NSF attachment protein gamma	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8732335	Napg	NSF attachment protein gamma	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8732351	Id1	inhibitor of DNA binding 1, HLH protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8732351	Id1	inhibitor of DNA binding 1, HLH protein	gene	DOID:13580	cholestasis		ISO	RGD:2858	D	RGD:9068941	20200609	RGD		protein:increased expression:liver, nucleus (rat)	PMID:16628634|REF_RGD_ID:9686088
8732351	Id1	inhibitor of DNA binding 1, HLH protein	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:736819	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung, wall of arteriole (human)	PMID:20522807|REF_RGD_ID:9686087
8732351	Id1	inhibitor of DNA binding 1, HLH protein	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:736819	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16966095
8732351	Id1	inhibitor of DNA binding 1, HLH protein	gene	DOID:1686	glaucoma		ISO	RGD:736819	D	RGD:9068941	20221027	RGD		mRNA:increased expression:optic nerve head (human)	PMID:28990066|REF_RGD_ID:155630605
8732351	Id1	inhibitor of DNA binding 1, HLH protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8732351	Id1	inhibitor of DNA binding 1, HLH protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8732351	Id1	inhibitor of DNA binding 1, HLH protein	gene	DOID:6432	pulmonary hypertension		ISO	RGD:2858	D	RGD:9068941	20200609	RGD			PMID:20522807|REF_RGD_ID:9686087
8732351	Id1	inhibitor of DNA binding 1, HLH protein	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2858	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord (rat)	PMID:11746449|REF_RGD_ID:9686138
8732351	Id1	inhibitor of DNA binding 1, HLH protein	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:736819	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: therapeutic	PMID:24910342
8732351	Id1	inhibitor of DNA binding 1, HLH protein	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:736819	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21283680
8732351	Id1	inhibitor of DNA binding 1, HLH protein	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:736819	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
8732351	Id1	inhibitor of DNA binding 1, HLH protein	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:736819	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8732351	Id1	inhibitor of DNA binding 1, HLH protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8732351	Id1	inhibitor of DNA binding 1, HLH protein	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736819	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
8732373	Limk1	LIM domain kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732406	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8732373	Limk1	LIM domain kinase 1	gene	DOID:0060475	myoclonic-atonic epilepsy		ISO	RGD:732406	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy	
8732373	Limk1	LIM domain kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:732406	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8732373	Limk1	LIM domain kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:732406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8732373	Limk1	LIM domain kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:732406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8732373	Limk1	LIM domain kinase 1	gene	DOID:1928	Williams-Beuren syndrome		ISO	RGD:62347	D	RGD:9068941	20250724	MouseDO		OMIM:194050	
8732373	Limk1	LIM domain kinase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:732406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8732373	Limk1	LIM domain kinase 1	gene	DOID:3070	high grade glioma		ISO	RGD:732406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8732373	Limk1	LIM domain kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:732406	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8732373	Limk1	LIM domain kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:732406	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8732373	Limk1	LIM domain kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732373	Limk1	LIM domain kinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732406	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8732373	Limk1	LIM domain kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8732373	Limk1	LIM domain kinase 1	gene	DOID:9002189	High Myopia		ISO	RGD:732406	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
8732373	Limk1	LIM domain kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8732373	Limk1	LIM domain kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8732395	Plcb1	phospholipase C beta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8732395	Plcb1	phospholipase C beta 1	gene	DOID:0050562	West syndrome		ISO	RGD:733094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive	
8732395	Plcb1	phospholipase C beta 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:733094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19805378
8732395	Plcb1	phospholipase C beta 1	gene	DOID:0050908	myelodysplastic syndrome	severity	ISO	RGD:733094	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:bone marrow, blood, mononuclear cell (human)	PMID:16820933|REF_RGD_ID:11535164
8732395	Plcb1	phospholipase C beta 1	gene	DOID:0050908	myelodysplastic syndrome	treatment	ISO	RGD:733094	D	RGD:9068941	20200609	RGD			PMID:21109771|REF_RGD_ID:11535956
8732395	Plcb1	phospholipase C beta 1	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:733094	D	RGD:7240710	20180130	OMIM			
8732395	Plcb1	phospholipase C beta 1	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:733094	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12	PMID:16199547|PMID:17576681|PMID:18414213|PMID:20833646|PMID:22690784|PMID:24684524|PMID:24747189|PMID:25741868|PMID:25950944|PMID:26467025|PMID:26818157|PMID:28492532|PMID:31883110|PMID:32733715|PMID:9305844|PMID:9536098
8732395	Plcb1	phospholipase C beta 1	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:733094	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 | ClinVar Annotator: match by term: PLCB1-related disorder	PMID:16199547|PMID:17576681|PMID:18414213|PMID:20833646|PMID:22690784|PMID:24684524|PMID:24747189|PMID:25640679|PMID:25741868|PMID:25950944|PMID:26467025|PMID:26818157|PMID:28492532|PMID:31883110|PMID:9305844|PMID:9536098
8732395	Plcb1	phospholipase C beta 1	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:733094	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1	PMID:25741868
8732395	Plcb1	phospholipase C beta 1	gene	DOID:10534	stomach cancer		ISO	RGD:733094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8732395	Plcb1	phospholipase C beta 1	gene	DOID:1059	intellectual disability		ISO	RGD:733094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8732395	Plcb1	phospholipase C beta 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733094	D	RGD:9068941	20200609	RGD			PMID:8534418|REF_RGD_ID:13825140
8732395	Plcb1	phospholipase C beta 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735582	D	RGD:9068941	20220825	MouseDO		OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907	
8732395	Plcb1	phospholipase C beta 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:733094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
8732395	Plcb1	phospholipase C beta 1	gene	DOID:1115	sarcoma		ISO	RGD:733094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8732395	Plcb1	phospholipase C beta 1	gene	DOID:11832	visual epilepsy		ISO	RGD:733094	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure	PMID:18414213|PMID:24747189|PMID:25741868|PMID:26467025|PMID:28492532
8732395	Plcb1	phospholipase C beta 1	gene	DOID:1826	epilepsy		ISO	RGD:733094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8732395	Plcb1	phospholipase C beta 1	gene	DOID:1909	melanoma		ISO	RGD:733094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8732395	Plcb1	phospholipase C beta 1	gene	DOID:2841	asthma		ISO	RGD:733094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
8732395	Plcb1	phospholipase C beta 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:733094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868|PMID:28492532
8732395	Plcb1	phospholipase C beta 1	gene	DOID:3310	atopic dermatitis		ISO	RGD:733094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868|PMID:28492532
8732395	Plcb1	phospholipase C beta 1	gene	DOID:4362	cervical cancer		ISO	RGD:733094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8732395	Plcb1	phospholipase C beta 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:26467025|PMID:28492532
8732395	Plcb1	phospholipase C beta 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733094	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8732395	Plcb1	phospholipase C beta 1	gene	DOID:5419	schizophrenia		ISO	RGD:733094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17667964
8732395	Plcb1	phospholipase C beta 1	gene	DOID:5419	schizophrenia		ISO	RGD:735582	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
8732395	Plcb1	phospholipase C beta 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8732395	Plcb1	phospholipase C beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8732395	Plcb1	phospholipase C beta 1	gene	DOID:5844	myocardial infarction		ISO	RGD:3344	D	RGD:9068941	20200609	RGD		protein:increased expression:heart	PMID:9521338|REF_RGD_ID:2314514
8732395	Plcb1	phospholipase C beta 1	gene	DOID:630	genetic disease		ISO	RGD:733094	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:24747189|PMID:25741868|PMID:26467025|PMID:28492532
8732395	Plcb1	phospholipase C beta 1	gene	DOID:9000641	Pain		ISO	RGD:733094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16405873
8732395	Plcb1	phospholipase C beta 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:733094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
8732395	Plcb1	phospholipase C beta 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8732395	Plcb1	phospholipase C beta 1	gene	DOID:9119	acute myeloid leukemia	severity	ISO	RGD:733094	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood (human)	PMID:20516454|REF_RGD_ID:11535940
8732434	Letmd1	LETM1 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8732434	Letmd1	LETM1 domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8732434	Letmd1	LETM1 domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8732434	Letmd1	LETM1 domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1344708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8732434	Letmd1	LETM1 domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1344708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8732434	Letmd1	LETM1 domain containing 1	gene	DOID:1612	breast cancer		ISO	RGD:1344708	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:19208263|REF_RGD_ID:2314917
8732434	Letmd1	LETM1 domain containing 1	gene	DOID:363	uterine cancer		ISO	RGD:1344708	D	RGD:9068941	20200609	RGD		mRNA:increased expression:uterine cervix	PMID:12879013|REF_RGD_ID:2314918
8732434	Letmd1	LETM1 domain containing 1	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1344708	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:ovary	PMID:12879013|REF_RGD_ID:2314918
8732434	Letmd1	LETM1 domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1344708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8732434	Letmd1	LETM1 domain containing 1	gene	DOID:4451	renal carcinoma		ISO	RGD:1344708	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney	PMID:12879013|REF_RGD_ID:2314918
8732434	Letmd1	LETM1 domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8732434	Letmd1	LETM1 domain containing 1	gene	DOID:5517	stomach carcinoma		ISO	RGD:1344708	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:stomach	PMID:12879013|REF_RGD_ID:2314918
8732434	Letmd1	LETM1 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732434	Letmd1	LETM1 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8732465	Phf3	PHD finger protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8732465	Phf3	PHD finger protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8732465	Phf3	PHD finger protein 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312646	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8732465	Phf3	PHD finger protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1312646	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8732465	Phf3	PHD finger protein 3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1312646	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:18976725|PMID:20237254|PMID:20333770|PMID:20537394|PMID:21069908|PMID:21179430|PMID:22302105|PMID:22363543|PMID:22581970|PMID:24033266|PMID:24474277|PMID:24652164|PMID:24938718|PMID:25097241|PMID:25133751|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25741868|PMID:26161267|PMID:26261414|PMID:26667666|PMID:26787102|PMID:26872967|PMID:27208204|PMID:27658286|PMID:28041643|PMID:28492532|PMID:28704921|PMID:29068140|PMID:29159838|PMID:29550188|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30804660|PMID:31054281|PMID:31074760|PMID:31087526|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31725169|PMID:31814702|PMID:31960602|PMID:31964843|PMID:32037395|PMID:32531858|PMID:32675063|PMID:32728228|PMID:33090715|PMID:33247286|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33833316|PMID:34178978|PMID:34315337|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34689181|PMID:34795310|PMID:34906470|PMID:35672425|PMID:36460718|PMID:36729443|PMID:36764454|PMID:36819107|PMID:37544434|PMID:37798099
8732465	Phf3	PHD finger protein 3	gene	DOID:1059	intellectual disability		ISO	RGD:1312646	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8732465	Phf3	PHD finger protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8732465	Phf3	PHD finger protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8732465	Phf3	PHD finger protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8732465	Phf3	PHD finger protein 3	gene	DOID:1909	melanoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8732465	Phf3	PHD finger protein 3	gene	DOID:3070	high grade glioma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8732465	Phf3	PHD finger protein 3	gene	DOID:3275	thymoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8732465	Phf3	PHD finger protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8732465	Phf3	PHD finger protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1312646	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8732465	Phf3	PHD finger protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732465	Phf3	PHD finger protein 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8732465	Phf3	PHD finger protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8732465	Phf3	PHD finger protein 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8732465	Phf3	PHD finger protein 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312646	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8732465	Phf3	PHD finger protein 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8732465	Phf3	PHD finger protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8732465	Phf3	PHD finger protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25741868|PMID:28285769|PMID:28492532
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:0080918	polymicrogyria		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868|PMID:28285769|PMID:28492532
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321752	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:17576681|PMID:28285769|PMID:28492532|PMID:9536098
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:1059	intellectual disability		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28285769|PMID:28492532
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:12849	autistic disorder		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28285769|PMID:28492532
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:1324	lung cancer		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:1657	ventricular septal defect		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28285769|PMID:28492532
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:1909	melanoma		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:2394	ovarian cancer		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:3275	thymoma		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:5041	esophageal cancer		ISO	RGD:1321752	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:17576681|PMID:28492532|PMID:9536098
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:5723	optic atrophy		ISO	RGD:1321752	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:630	genetic disease		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:8466	retinal degeneration		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal degeneration	PMID:25741868
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:8501	fundus dystrophy		ISO	RGD:1321752	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28285769|PMID:28492532
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:9002644	Premature Aging		ISO	RGD:1321752	D	RGD:9068941	20250828	RGD		associated with alcohol use disorder; DNA:SNP: :rs10043634	PMID:31466081|REF_RGD_ID:626167418
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:9006431	Metaphyseal Chondrodysplasia with Retinitis Pigmentosa		ISO	RGD:1321752	D	RGD:7240710	20190315	OMIM			
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:9006431	Metaphyseal Chondrodysplasia with Retinitis Pigmentosa		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CWC27-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa with or without skeletal anomalies	PMID:25741868|PMID:28492532
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:9007661	Dwarfism		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28285769|PMID:28492532
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8732503	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:0050645	arterial tortuosity syndrome		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arterial tortuosity	PMID:25741868
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:0060249	scoliosis		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:0060321	umbilical hernia		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:25741868
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:10534	stomach cancer		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:1115	sarcoma		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:1324	lung cancer		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:1826	epilepsy		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:1909	melanoma		ISO	RGD:1607048	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:3070	high grade glioma		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:4362	cervical cancer		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:5041	esophageal cancer		ISO	RGD:1607048	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:9000482	Tarlov Cysts		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Perineural cyst	PMID:25741868
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:9000966	Night Terror		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep terror	PMID:25741868
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:9001031	Retrognathia		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:9003126	Hallucinations		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:25741868
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:9004040	Parasomnias		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parasomnia	PMID:25741868
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8732538	Utp20	UTP20 small subunit processome component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8732609	Tcf19	transcription factor 19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8732609	Tcf19	transcription factor 19	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1345711	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
8732609	Tcf19	transcription factor 19	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1345711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8732609	Tcf19	transcription factor 19	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8732609	Tcf19	transcription factor 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8732609	Tcf19	transcription factor 19	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1345711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
8732609	Tcf19	transcription factor 19	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1345711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8732630	Atg3	autophagy related 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8732630	Atg3	autophagy related 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8732630	Atg3	autophagy related 3	gene	DOID:10534	stomach cancer		ISO	RGD:1353416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8732630	Atg3	autophagy related 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8732630	Atg3	autophagy related 3	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:1557224	D	RGD:9068941	20240912	RGD			PMID:36308627|REF_RGD_ID:407532639
8732630	Atg3	autophagy related 3	gene	DOID:12935	alcoholic cardiomyopathy	treatment	ISO	RGD:1557224	D	RGD:9068941	20240912	RGD			PMID:29039471|REF_RGD_ID:407532638
8732630	Atg3	autophagy related 3	gene	DOID:1324	lung cancer		ISO	RGD:1353416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8732630	Atg3	autophagy related 3	gene	DOID:1909	melanoma		ISO	RGD:1353416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8732630	Atg3	autophagy related 3	gene	DOID:4362	cervical cancer		ISO	RGD:1353416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8732630	Atg3	autophagy related 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8732630	Atg3	autophagy related 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8732630	Atg3	autophagy related 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732630	Atg3	autophagy related 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8732630	Atg3	autophagy related 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8732630	Atg3	autophagy related 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8732630	Atg3	autophagy related 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8732646	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8732646	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:10534	stomach cancer		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8732646	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:1059	intellectual disability		ISO	RGD:1320291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
8732646	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8732646	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:1115	sarcoma		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8732646	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:12450	pancytopenia		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:25741868|PMID:28492532
8732646	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:1588	thrombocytopenia		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
8732646	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8732646	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:2355	anemia		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
8732646	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:1320291	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita	PMID:25741868
8732646	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:3275	thymoma		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8732646	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis	PMID:25741868
8732646	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:4362	cervical cancer		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8732646	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8732646	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:4961	bone marrow disease		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	PMID:25741868
8732646	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732646	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip dysplasia	PMID:25741868
8732646	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8732646	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:9009112	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5		ISO	RGD:1320291	D	RGD:7240710	20191211	OMIM			
8732646	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:9009112	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5		ISO	RGD:1320291	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 | ClinVar Annotator: match by term: ZCCHC8-related condition	PMID:25741868|PMID:28492532|PMID:31488579
8732646	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320291	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Inherited acute myeloid leukemia	PMID:25741868
8732646	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:9655	oral mucosa leukoplakia		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oral mucosa leukoplakia	PMID:25741868
8732667	Znf653	zinc finger protein 653	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8732667	Znf653	zinc finger protein 653	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8732667	Znf653	zinc finger protein 653	gene	DOID:1115	sarcoma		ISO	RGD:1347968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8732667	Znf653	zinc finger protein 653	gene	DOID:3275	thymoma		ISO	RGD:1347968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8732667	Znf653	zinc finger protein 653	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732681	Exoc7	exocyst complex component 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8732681	Exoc7	exocyst complex component 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8732681	Exoc7	exocyst complex component 7	gene	DOID:10534	stomach cancer		ISO	RGD:1347556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8732681	Exoc7	exocyst complex component 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8732681	Exoc7	exocyst complex component 7	gene	DOID:1324	lung cancer		ISO	RGD:1347556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8732681	Exoc7	exocyst complex component 7	gene	DOID:1909	melanoma		ISO	RGD:1347556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8732681	Exoc7	exocyst complex component 7	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8732681	Exoc7	exocyst complex component 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8732681	Exoc7	exocyst complex component 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1347556	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8732681	Exoc7	exocyst complex component 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732681	Exoc7	exocyst complex component 7	gene	DOID:630	genetic disease		ISO	RGD:1347556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8732681	Exoc7	exocyst complex component 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8732681	Exoc7	exocyst complex component 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8732681	Exoc7	exocyst complex component 7	gene	DOID:9009012	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY		ISO	RGD:1347556	D	RGD:7240710	20210120	OMIM			
8732681	Exoc7	exocyst complex component 7	gene	DOID:9009012	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY		ISO	RGD:1347556	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EXOC7-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and brain atrophy	PMID:25741868
8732733	Rcor1	REST corepressor 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1313957	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:26489029
8732733	Rcor1	REST corepressor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8732733	Rcor1	REST corepressor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8732733	Rcor1	REST corepressor 1	gene	DOID:1324	lung cancer		ISO	RGD:1313957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8732733	Rcor1	REST corepressor 1	gene	DOID:1909	melanoma		ISO	RGD:1313957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8732733	Rcor1	REST corepressor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8732733	Rcor1	REST corepressor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732733	Rcor1	REST corepressor 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1313957	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25043185
8732733	Rcor1	REST corepressor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8732733	Rcor1	REST corepressor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8732733	Rcor1	REST corepressor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8732777	Pbld	phenazine biosynthesis like protein domain containing	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1606247	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
8732777	Pbld	phenazine biosynthesis like protein domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:1606247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8732777	Pbld	phenazine biosynthesis like protein domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1606247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8732777	Pbld	phenazine biosynthesis like protein domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732777	Pbld	phenazine biosynthesis like protein domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8732812	Lbr	lamin B receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8732812	Lbr	lamin B receptor	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:736984	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:25741868|PMID:28492532|PMID:28600779|PMID:29068549
8732812	Lbr	lamin B receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8732812	Lbr	lamin B receptor	gene	DOID:0111588	Greenberg dysplasia		ISO	RGD:736984	D	RGD:7240710	20180130	OMIM			
8732812	Lbr	lamin B receptor	gene	DOID:0111588	Greenberg dysplasia		ISO	RGD:736984	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GREENBERG DYSPLASIA | ClinVar Annotator: match by term: Greenberg dysplasia | ClinVar Annotator: match by term: MOTH-EATEN SKELETAL DYSPLASIA	PMID:18382993|PMID:20522425|PMID:21327084|PMID:25348816|PMID:25741868|PMID:25771912|PMID:26467025|PMID:27336722|PMID:27830109|PMID:27875746|PMID:28492532|PMID:28600779|PMID:29068549|PMID:29590070|PMID:29758565|PMID:32827848|PMID:33502066|PMID:33726816|PMID:36596842
8732812	Lbr	lamin B receptor	gene	DOID:10534	stomach cancer		ISO	RGD:736984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8732812	Lbr	lamin B receptor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
8732812	Lbr	lamin B receptor	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:736984	D	RGD:9068941	20200609	RGD			PMID:8550049|REF_RGD_ID:9588625
8732812	Lbr	lamin B receptor	gene	DOID:1324	lung cancer		ISO	RGD:736984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8732812	Lbr	lamin B receptor	gene	DOID:1702	ichthyosis vulgaris		ISO	RGD:732448	D	RGD:9068941	20220825	MouseDO		OMIM:146700	
8732812	Lbr	lamin B receptor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8732812	Lbr	lamin B receptor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8732812	Lbr	lamin B receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:736984	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8732812	Lbr	lamin B receptor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8732812	Lbr	lamin B receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8732812	Lbr	lamin B receptor	gene	DOID:614	lymphopenia		ISO	RGD:732448	D	RGD:9068941	20200609	RGD		DNA:point mutation	PMID:22105998|REF_RGD_ID:11062006
8732812	Lbr	lamin B receptor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8732812	Lbr	lamin B receptor	gene	DOID:630	genetic disease		ISO	RGD:736984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:27875746|PMID:28492532|PMID:29590070|PMID:29758565
8732812	Lbr	lamin B receptor	gene	DOID:65	connective tissue disease		ISO	RGD:736984	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:26467025|PMID:27875746|PMID:28492532|PMID:29590070|PMID:29758565|PMID:32827848
8732812	Lbr	lamin B receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8732812	Lbr	lamin B receptor	gene	DOID:9001031	Retrognathia		ISO	RGD:736984	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: retrognathism	PMID:25741868|PMID:26938784
8732812	Lbr	lamin B receptor	gene	DOID:9003114	Reynolds Syndrome		ISO	RGD:736984	D	RGD:7240710	20180130	OMIM			
8732812	Lbr	lamin B receptor	gene	DOID:9003114	Reynolds Syndrome		ISO	RGD:736984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | ClinVar Annotator: match by term: Reynolds syndrome	PMID:18382993|PMID:20522425|PMID:25348816|PMID:25741868|PMID:25771912|PMID:28492532|PMID:32827848|PMID:33502066|PMID:33726816|PMID:36596842
8732812	Lbr	lamin B receptor	gene	DOID:9006936	Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia		ISO	RGD:736984	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia	PMID:18382993|PMID:25348816|PMID:25741868|PMID:28492532
8732812	Lbr	lamin B receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8732812	Lbr	lamin B receptor	gene	DOID:9007661	Dwarfism		ISO	RGD:736984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature	PMID:25741868|PMID:26938784
8732812	Lbr	lamin B receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8732812	Lbr	lamin B receptor	gene	DOID:9009255	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES		ISO	RGD:736984	D	RGD:7240710	20190315	OMIM			
8732812	Lbr	lamin B receptor	gene	DOID:9009255	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES		ISO	RGD:736984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES | ClinVar Annotator: match by term: RHIZOMELIC SKELETAL DYSPLASIA WITH OR WITHOUT PELGER-HUET ANOMALY | ClinVar Annotator: match by term: RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY	PMID:18382993|PMID:20522425|PMID:23824842|PMID:25348816|PMID:25741868|PMID:25771912|PMID:28492532|PMID:28600779|PMID:29068549|PMID:30448303|PMID:32827848|PMID:33502066|PMID:33726816|PMID:34567078|PMID:36307859|PMID:36596842|PMID:37880672|PMID:38946370
8732812	Lbr	lamin B receptor	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:732448	D	RGD:9068941	20220825	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
8732812	Lbr	lamin B receptor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:18382993|PMID:25348816|PMID:25741868|PMID:28492532
8732812	Lbr	lamin B receptor	gene	DOID:9256	colorectal cancer		ISO	RGD:736984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8732812	Lbr	lamin B receptor	gene	DOID:9631	Pelger-Huet anomaly		ISO	RGD:736984	D	RGD:7240710	20180130	OMIM			
8732812	Lbr	lamin B receptor	gene	DOID:9631	Pelger-Huet anomaly		ISO	RGD:736984	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PELGER-HUET ANOMALY | ClinVar Annotator: match by term: Pelger-Huët anomaly	PMID:14617022|PMID:25741868|PMID:26938784|PMID:28492532|PMID:32827848
8732812	Lbr	lamin B receptor	gene	DOID:9631	Pelger-Huet anomaly	susceptibility	ISO	RGD:736984	D	RGD:9068941	20200609	RGD		DNA:splice-site mutations, frameshift mutations, nonsense mutations	PMID:12118250|REF_RGD_ID:1600215
8732843	Samsn1	SAM domain, SH3 domain and nuclear localization signals 1	gene	DOID:0080600	COVID-19		ISO	RGD:1348552	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8732843	Samsn1	SAM domain, SH3 domain and nuclear localization signals 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732843	Samsn1	SAM domain, SH3 domain and nuclear localization signals 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8732843	Samsn1	SAM domain, SH3 domain and nuclear localization signals 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8732879	Tspan7	tetraspanin 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8732879	Tspan7	tetraspanin 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8732879	Tspan7	tetraspanin 7	gene	DOID:0112024	non-syndromic X-linked intellectual disability 58		ISO	RGD:1352570	D	RGD:7240710	20180130	OMIM			
8732879	Tspan7	tetraspanin 7	gene	DOID:0112024	non-syndromic X-linked intellectual disability 58		ISO	RGD:1352570	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58 | ClinVar Annotator: match by term: TSPAN7-related condition	PMID:25741868|PMID:28492532
8732879	Tspan7	tetraspanin 7	gene	DOID:1059	intellectual disability		ISO	RGD:1352570	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8732879	Tspan7	tetraspanin 7	gene	DOID:10907	microcephaly		ISO	RGD:1352570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
8732879	Tspan7	tetraspanin 7	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1352570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
8732879	Tspan7	tetraspanin 7	gene	DOID:1115	sarcoma		ISO	RGD:1352570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8732879	Tspan7	tetraspanin 7	gene	DOID:1324	lung cancer		ISO	RGD:1352570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
8732879	Tspan7	tetraspanin 7	gene	DOID:1909	melanoma		ISO	RGD:1352570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8732879	Tspan7	tetraspanin 7	gene	DOID:4362	cervical cancer		ISO	RGD:1352570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8732879	Tspan7	tetraspanin 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732879	Tspan7	tetraspanin 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
8732879	Tspan7	tetraspanin 7	gene	DOID:9007661	Dwarfism		ISO	RGD:1352570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8732891	Man1c1	mannosidase alpha class 1C member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8732891	Man1c1	mannosidase alpha class 1C member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8732891	Man1c1	mannosidase alpha class 1C member 1	gene	DOID:1324	lung cancer		ISO	RGD:1320140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8732891	Man1c1	mannosidase alpha class 1C member 1	gene	DOID:1909	melanoma		ISO	RGD:1320140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8732891	Man1c1	mannosidase alpha class 1C member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8732891	Man1c1	mannosidase alpha class 1C member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8732891	Man1c1	mannosidase alpha class 1C member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8732907	Katnip	katanin interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8732907	Katnip	katanin interacting protein	gene	DOID:0060340	ciliopathy		ISO	RGD:1604044	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ciliopathy	PMID:25741868|PMID:28492532
8732907	Katnip	katanin interacting protein	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1604044	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1	PMID:25741868|PMID:28492532
8732907	Katnip	katanin interacting protein	gene	DOID:0110995	Joubert Syndrome 26		ISO	RGD:1604044	D	RGD:7240710	20190315	OMIM			
8732907	Katnip	katanin interacting protein	gene	DOID:0110995	Joubert Syndrome 26		ISO	RGD:1604044	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 26 | ClinVar Annotator: match by term: Joubert syndrome 26 | ClinVar Annotator: match by term: KATNIP-related condition	PMID:16199547|PMID:17576681|PMID:25741868|PMID:26714646|PMID:27245168|PMID:28492532|PMID:9536098
8732907	Katnip	katanin interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1604044	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8732907	Katnip	katanin interacting protein	gene	DOID:1324	lung cancer		ISO	RGD:1604044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8732907	Katnip	katanin interacting protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8732907	Katnip	katanin interacting protein	gene	DOID:3070	high grade glioma		ISO	RGD:1604044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8732907	Katnip	katanin interacting protein	gene	DOID:3275	thymoma		ISO	RGD:1604044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8732907	Katnip	katanin interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1604044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8732907	Katnip	katanin interacting protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8732907	Katnip	katanin interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1604044	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8732907	Katnip	katanin interacting protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:25741868|PMID:28492532
8732907	Katnip	katanin interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732907	Katnip	katanin interacting protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8732907	Katnip	katanin interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8732907	Katnip	katanin interacting protein	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8732907	Katnip	katanin interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8732907	Katnip	katanin interacting protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1604044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8732907	Katnip	katanin interacting protein	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1604044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: nystagmus	
8732939	Zdhhc23	zDHHC palmitoyltransferase 23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8732939	Zdhhc23	zDHHC palmitoyltransferase 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8732939	Zdhhc23	zDHHC palmitoyltransferase 23	gene	DOID:1909	melanoma		ISO	RGD:1345232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8732939	Zdhhc23	zDHHC palmitoyltransferase 23	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8732939	Zdhhc23	zDHHC palmitoyltransferase 23	gene	DOID:5041	esophageal cancer		ISO	RGD:1345232	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8732939	Zdhhc23	zDHHC palmitoyltransferase 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732939	Zdhhc23	zDHHC palmitoyltransferase 23	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1345232	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8732939	Zdhhc23	zDHHC palmitoyltransferase 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8732955	Tmem208	transmembrane protein 208	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
8732955	Tmem208	transmembrane protein 208	gene	DOID:0060328	anal fistula		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anal fistula	PMID:25741868
8732955	Tmem208	transmembrane protein 208	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
8732955	Tmem208	transmembrane protein 208	gene	DOID:10175	optic papillitis		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic papillitis	PMID:25741868
8732955	Tmem208	transmembrane protein 208	gene	DOID:10488	imperforate anus		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:25741868
8732955	Tmem208	transmembrane protein 208	gene	DOID:10611	protein-losing enteropathy		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Protein-losing enteropathy	PMID:25741868
8732955	Tmem208	transmembrane protein 208	gene	DOID:10629	microphthalmia		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25741868
8732955	Tmem208	transmembrane protein 208	gene	DOID:10907	microcephaly		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8732955	Tmem208	transmembrane protein 208	gene	DOID:1115	sarcoma		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8732955	Tmem208	transmembrane protein 208	gene	DOID:1143	exotropia		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
8732955	Tmem208	transmembrane protein 208	gene	DOID:13620	patent foramen ovale		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
8732955	Tmem208	transmembrane protein 208	gene	DOID:13929	lacrimal duct obstruction		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nasolacrimal duct obstruction	PMID:25741868
8732955	Tmem208	transmembrane protein 208	gene	DOID:14415	Legg-Calve-Perthes disease		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Legg-Calve-Perthes disease	PMID:25741868
8732955	Tmem208	transmembrane protein 208	gene	DOID:1657	ventricular septal defect		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
8732955	Tmem208	transmembrane protein 208	gene	DOID:2846	bruxism		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bruxism	PMID:25741868
8732955	Tmem208	transmembrane protein 208	gene	DOID:3275	thymoma		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8732955	Tmem208	transmembrane protein 208	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732955	Tmem208	transmembrane protein 208	gene	DOID:9000343	Vision Disorders		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
8732955	Tmem208	transmembrane protein 208	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25741868
8732955	Tmem208	transmembrane protein 208	gene	DOID:9001031	Retrognathia		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
8732955	Tmem208	transmembrane protein 208	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8732955	Tmem208	transmembrane protein 208	gene	DOID:9001738	Hypercalciuria		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercalciuria	PMID:25741868
8732955	Tmem208	transmembrane protein 208	gene	DOID:9007661	Dwarfism		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8732955	Tmem208	transmembrane protein 208	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8732955	Tmem208	transmembrane protein 208	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8732955	Tmem208	transmembrane protein 208	gene	DOID:9834	hyperopia		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
8732965	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:0080600	COVID-19		ISO	RGD:1603703	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8732965	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:1324	lung cancer		ISO	RGD:1603703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8732965	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:1909	melanoma		ISO	RGD:1603703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8732965	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8732965	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603703	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8732965	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1603703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8732965	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732965	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8732965	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1603703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8732965	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1603703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8732965	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8732965	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8732988	Xpo5	exportin 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8732988	Xpo5	exportin 5	gene	DOID:0080379	nephrotic syndrome type 2		ISO	RGD:1323025	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26878725
8732988	Xpo5	exportin 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8732988	Xpo5	exportin 5	gene	DOID:12858	Huntington's disease		ISO	RGD:1323026	D	RGD:9068941	20200609	RGD		mRNA:increased expression:striatum (mouse)	PMID:21035445|REF_RGD_ID:11041745
8732988	Xpo5	exportin 5	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1323025	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.S241N, p.M1115T (rs34324334, rs11544382) (human)	PMID:21552306|REF_RGD_ID:11041726
8732988	Xpo5	exportin 5	gene	DOID:1793	pancreatic cancer		ISO	RGD:1323026	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:pancreas (mouse)	PMID:26516699|REF_RGD_ID:11041739
8732988	Xpo5	exportin 5	gene	DOID:1909	melanoma		ISO	RGD:1323025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8732988	Xpo5	exportin 5	gene	DOID:2154	nephroblastoma		ISO	RGD:1323025	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
8732988	Xpo5	exportin 5	gene	DOID:2671	transitional cell carcinoma	severity	ISO	RGD:1323025	D	RGD:9068941	20200609	RGD		mRNA:increased expression:urothelium (human)	PMID:22766726|REF_RGD_ID:11041723
8732988	Xpo5	exportin 5	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1323025	D	RGD:9068941	20200609	RGD		DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human)	PMID:21799879|REF_RGD_ID:11041736
8732988	Xpo5	exportin 5	gene	DOID:4362	cervical cancer		ISO	RGD:1323025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8732988	Xpo5	exportin 5	gene	DOID:5409	lung small cell carcinoma	severity	ISO	RGD:1323025	D	RGD:9068941	20200609	RGD		DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human)	PMID:24648983|REF_RGD_ID:11041738
8732988	Xpo5	exportin 5	gene	DOID:5426	primary ovarian insufficiency	susceptibility	ISO	RGD:1323025	D	RGD:9068941	20200609	RGD		DNA:snps, haplotype:exon, 3' utr:c.3303C>T, c.*659A>C (rs2257082, rs11077) (human)	PMID:23549446|REF_RGD_ID:11041728
8732988	Xpo5	exportin 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8732988	Xpo5	exportin 5	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1323025	D	RGD:9068941	20200609	RGD		DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human)	PMID:24676133|REF_RGD_ID:11041737
8732988	Xpo5	exportin 5	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:1323025	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25701956
8732988	Xpo5	exportin 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8732988	Xpo5	exportin 5	gene	DOID:9008914	Lead Poisoning		ISO	RGD:1323025	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28042866
8732988	Xpo5	exportin 5	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1323025	D	RGD:9068941	20200609	RGD		DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human)	PMID:26147304|REF_RGD_ID:11041733
8732988	Xpo5	exportin 5	gene	DOID:9538	multiple myeloma	severity	ISO	RGD:1323025	D	RGD:9068941	20200609	RGD		DNA:snp:3' utr:c.*659A>C (rs11077) (human)	PMID:22539802|REF_RGD_ID:11041735
8733033	Glrb	glycine receptor beta	gene	DOID:0060695	hyperekplexia		ISO	RGD:731361	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Hyperekplexia	PMID:11929858|PMID:17576681|PMID:25741868|PMID:28492532|PMID:32911248|PMID:9536098
8733033	Glrb	glycine receptor beta	gene	DOID:0060697	hyperekplexia 2		ISO	RGD:731361	D	RGD:7240710	20180130	OMIM			
8733033	Glrb	glycine receptor beta	gene	DOID:0060697	hyperekplexia 2		ISO	RGD:731361	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLRB-related condition | ClinVar Annotator: match by term: HYPEREKPLEXIA 2 | ClinVar Annotator: match by term: Hyperekplexia 2	PMID:16199547|PMID:17576681|PMID:22532536|PMID:23182654|PMID:23184146|PMID:25640679|PMID:25741868|PMID:28173650|PMID:28492532|PMID:35526563|PMID:35841715|PMID:9536098
8733033	Glrb	glycine receptor beta	gene	DOID:13366	Stiff-Person syndrome		ISO	RGD:731361	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8733033	Glrb	glycine receptor beta	gene	DOID:1826	epilepsy		ISO	RGD:731361	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868
8733033	Glrb	glycine receptor beta	gene	DOID:630	genetic disease		ISO	RGD:731361	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23184146|PMID:25741868|PMID:28492532
8733033	Glrb	glycine receptor beta	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731361	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8733046	Rcn3	reticulocalbin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8733046	Rcn3	reticulocalbin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1346169	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8733046	Rcn3	reticulocalbin 3	gene	DOID:1324	lung cancer		ISO	RGD:1346169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8733046	Rcn3	reticulocalbin 3	gene	DOID:3070	high grade glioma		ISO	RGD:1346169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8733046	Rcn3	reticulocalbin 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346169	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8733046	Rcn3	reticulocalbin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1346169	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8733046	Rcn3	reticulocalbin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733046	Rcn3	reticulocalbin 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346169	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8733046	Rcn3	reticulocalbin 3	gene	DOID:8398	osteoarthritis		ISO	RGD:1346169	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8733046	Rcn3	reticulocalbin 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1346169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8733046	Rcn3	reticulocalbin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8733046	Rcn3	reticulocalbin 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8733061	Vasp	vasodilator stimulated phosphoprotein	gene	DOID:10534	stomach cancer		ISO	RGD:1323055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8733061	Vasp	vasodilator stimulated phosphoprotein	gene	DOID:4362	cervical cancer		ISO	RGD:1323055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8733061	Vasp	vasodilator stimulated phosphoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733061	Vasp	vasodilator stimulated phosphoprotein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8733061	Vasp	vasodilator stimulated phosphoprotein	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323055	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8733061	Vasp	vasodilator stimulated phosphoprotein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8733087	CUNH17orf67	chromosome unknown C17orf67 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8733087	CUNH17orf67	chromosome unknown C17orf67 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733104	Siah3	siah E3 ubiquitin protein ligase family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1603255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8733104	Siah3	siah E3 ubiquitin protein ligase family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1603255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8733104	Siah3	siah E3 ubiquitin protein ligase family member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1603255	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8733104	Siah3	siah E3 ubiquitin protein ligase family member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:0050827	rheumatic heart disease		ISO	RGD:2661	D	RGD:9068941	20200609	RGD			PMID:26823728|REF_RGD_ID:13792679
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:2661	D	RGD:9068941	20200609	RGD			PMID:27375172|REF_RGD_ID:13792673
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:0060108	brain glioma		ISO	RGD:2661	D	RGD:9068941	20200609	RGD			PMID:26032618|REF_RGD_ID:13792685
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:0080600	COVID-19		ISO	RGD:735871	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:0080855	Parkinsonism		ISO	RGD:735871	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:29886133
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:10534	stomach cancer		ISO	RGD:735871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10619	D	RGD:9068941	20200609	RGD		protein:decreased activity:cerebral cortex, cerebellum	PMID:17324518|REF_RGD_ID:13792614
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:2661	D	RGD:9068941	20200609	RGD		protein:decreased activity:cerebral cortex, hippocampus	PMID:17324518|REF_RGD_ID:13792614
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735871	D	RGD:9068941	20200609	RGD			PMID:28087189|REF_RGD_ID:13792604
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735871	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotypes: :rs740850, rs1060620 (human)	PMID:18340469|REF_RGD_ID:13792612
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735871	D	RGD:9068941	20200609	RGD		protein:increased S-glutathionylation, decreased activity:inferior parietal cortex	PMID:17387692|REF_RGD_ID:13792613
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:735871	D	RGD:9068941	20200609	RGD		DNA:snps:5' utr, intron: (rs3741916, rs1060621) (human)	PMID:15507493|REF_RGD_ID:1358618
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:735871	D	RGD:9068941	20200609	RGD		DNA:SNP:5' utr:rs3741916 (human)	PMID:20864222|REF_RGD_ID:13792611
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:1115	sarcoma		ISO	RGD:735871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:11476	osteoporosis		ISO	RGD:735871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:12858	Huntington's disease		ISO	RGD:10619	D	RGD:9068941	20200609	RGD			PMID:26268247|REF_RGD_ID:13792684
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:1324	lung cancer		ISO	RGD:735871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:735871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:1826	epilepsy		ISO	RGD:2661	D	RGD:9068941	20200609	RGD			PMID:30143487|REF_RGD_ID:13792618
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:1909	melanoma		ISO	RGD:735871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:3319	lymphangioleiomyomatosis		ISO	RGD:735871	D	RGD:9068941	20220630	RGD		protein:increased expression:lung (human)	PMID:29885404|REF_RGD_ID:152995523
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:2661	D	RGD:9068941	20200609	RGD			PMID:25882840|REF_RGD_ID:13792686
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:735871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:4362	cervical cancer		ISO	RGD:735871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:5041	esophageal cancer		ISO	RGD:735871	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16767786|PMID:21472284
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:8398	osteoarthritis		ISO	RGD:735871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:8947	diabetic retinopathy		ISO	RGD:2661	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:18852331|REF_RGD_ID:2315975
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2661	D	RGD:9068941	20200609	RGD			PMID:27256506|REF_RGD_ID:13792677
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:735871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15986332
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:9000888	Pregnancy in Diabetics		ISO	RGD:2661	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression,decreased activity:embryo	PMID:12716756|REF_RGD_ID:2315979
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:735871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:9002138	Spinal Cord Reperfusion Injury	treatment	ISO	RGD:2661	D	RGD:9068941	20200609	RGD			PMID:30195603|REF_RGD_ID:13792615
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:9002669	Hypoxia		ISO	RGD:735871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19579223
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:735871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2661	D	RGD:9068941	20200609	RGD			PMID:27655796|REF_RGD_ID:13792671
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:9005749	Necrosis		ISO	RGD:735871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25725130
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:9006205	Animal Disease Models		ISO	RGD:735871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:9006928	Viral Bronchiolitis	severity	ISO	RGD:735871	D	RGD:9068941	20201218	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:26541527|REF_RGD_ID:40902860
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:735871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:2661	D	RGD:9068941	20200609	RGD			PMID:27129213|REF_RGD_ID:11574725
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:735871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:10619	D	RGD:9068941	20200609	RGD		protein:decreased acetylation	PMID:28258188|REF_RGD_ID:13792662
8733110	Gapdh	glyceraldehyde-3-phosphate dehydrogenase	gene	DOID:9970	obesity	treatment	ISO	RGD:2661	D	RGD:9068941	20200609	RGD			PMID:27987997|REF_RGD_ID:13792668
8733132	Onecut1	one cut homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733138	Fam216a	family with sequence similarity 216 member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8733138	Fam216a	family with sequence similarity 216 member A	gene	DOID:1115	sarcoma		ISO	RGD:1607038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8733138	Fam216a	family with sequence similarity 216 member A	gene	DOID:4362	cervical cancer		ISO	RGD:1607038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8733138	Fam216a	family with sequence similarity 216 member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1607038	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8733138	Fam216a	family with sequence similarity 216 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733166	Lamp5	lysosomal associated membrane protein family member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8733166	Lamp5	lysosomal associated membrane protein family member 5	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:1315920	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12	PMID:28492532|PMID:32733715
8733166	Lamp5	lysosomal associated membrane protein family member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1315920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8733166	Lamp5	lysosomal associated membrane protein family member 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1315920	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8733166	Lamp5	lysosomal associated membrane protein family member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733166	Lamp5	lysosomal associated membrane protein family member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733166	Lamp5	lysosomal associated membrane protein family member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8733195	Hspb3	heat shock protein family B (small) member 3	gene	DOID:0111209	autosomal dominant distal hereditary motor neuronopathy 4		ISO	RGD:68484	D	RGD:7240710	20180130	OMIM			
8733195	Hspb3	heat shock protein family B (small) member 3	gene	DOID:0111209	autosomal dominant distal hereditary motor neuronopathy 4		ISO	RGD:68484	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 2C | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IIC | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2C	PMID:25741868|PMID:26467025|PMID:28492532|PMID:28771244|PMID:31785789|PMID:32397312
8733195	Hspb3	heat shock protein family B (small) member 3	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:11589029|RGD:11591712|RGD:11609948	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Distal spinal muscular atrophy	
8733201	Gnaz	G protein subunit alpha z	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8733211	Cntn3	contactin 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8733211	Cntn3	contactin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8733211	Cntn3	contactin 3	gene	DOID:10534	stomach cancer		ISO	RGD:732842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8733211	Cntn3	contactin 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8733211	Cntn3	contactin 3	gene	DOID:12849	autistic disorder		ISO	RGD:732842	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18621663
8733211	Cntn3	contactin 3	gene	DOID:1909	melanoma		ISO	RGD:732842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8733211	Cntn3	contactin 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8733211	Cntn3	contactin 3	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:732842	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17597826
8733211	Cntn3	contactin 3	gene	DOID:3275	thymoma		ISO	RGD:732842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8733211	Cntn3	contactin 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8733211	Cntn3	contactin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733211	Cntn3	contactin 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8733211	Cntn3	contactin 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8733211	Cntn3	contactin 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:732842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8733211	Cntn3	contactin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733211	Cntn3	contactin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8733238	Ceacam16	CEA cell adhesion molecule 16, tectorial membrane component	gene	DOID:0110498	autosomal recessive nonsyndromic deafness 4		ISO	RGD:1603834	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 4	PMID:25741868|PMID:26467025|PMID:28492532|PMID:33111345
8733238	Ceacam16	CEA cell adhesion molecule 16, tectorial membrane component	gene	DOID:0110573	autosomal dominant nonsyndromic deafness 4A		ISO	RGD:1621965	D	RGD:9068941	20220825	MouseDO		OMIM:600652	
8733238	Ceacam16	CEA cell adhesion molecule 16, tectorial membrane component	gene	DOID:0110574	autosomal dominant nonsyndromic deafness 4B		ISO	RGD:1603834	D	RGD:7240710	20180130	OMIM			
8733238	Ceacam16	CEA cell adhesion molecule 16, tectorial membrane component	gene	DOID:0111636	autosomal recessive nonsyndromic deafness 113		ISO	RGD:1603834	D	RGD:7240710	20190515	OMIM			
8733248	Cnnm3	cyclin and CBS domain divalent metal cation transport mediator 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8733248	Cnnm3	cyclin and CBS domain divalent metal cation transport mediator 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8733248	Cnnm3	cyclin and CBS domain divalent metal cation transport mediator 3	gene	DOID:1324	lung cancer		ISO	RGD:1317403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8733248	Cnnm3	cyclin and CBS domain divalent metal cation transport mediator 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8733248	Cnnm3	cyclin and CBS domain divalent metal cation transport mediator 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733248	Cnnm3	cyclin and CBS domain divalent metal cation transport mediator 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733248	Cnnm3	cyclin and CBS domain divalent metal cation transport mediator 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8733261	Stam	signal transducing adaptor molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8733261	Stam	signal transducing adaptor molecule	gene	DOID:1324	lung cancer		ISO	RGD:1320313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8733261	Stam	signal transducing adaptor molecule	gene	DOID:1909	melanoma		ISO	RGD:1320313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8733261	Stam	signal transducing adaptor molecule	gene	DOID:3275	thymoma		ISO	RGD:1320313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8733261	Stam	signal transducing adaptor molecule	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8733261	Stam	signal transducing adaptor molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1320313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8733261	Stam	signal transducing adaptor molecule	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8733261	Stam	signal transducing adaptor molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:1320313	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8733261	Stam	signal transducing adaptor molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733261	Stam	signal transducing adaptor molecule	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8733261	Stam	signal transducing adaptor molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8733261	Stam	signal transducing adaptor molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8733286	Prdm16	PR/SET domain 16	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1353101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:24033266|PMID:28492532
8733286	Prdm16	PR/SET domain 16	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1353101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy	PMID:25741868|PMID:28492532
8733286	Prdm16	PR/SET domain 16	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1353101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532
8733286	Prdm16	PR/SET domain 16	gene	DOID:0050998	nonprogressive cerebellar ataxia with mental retardation		ISO	RGD:1353101	D	RGD:8554872	20230718	ClinVar		ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities	PMID:25741868
8733286	Prdm16	PR/SET domain 16	gene	DOID:0060480	left ventricular noncompaction		ISO	RGD:1620785	D	RGD:9068941	20220825	MouseDO		OMIM:604169	
8733286	Prdm16	PR/SET domain 16	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1353101	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572
8733286	Prdm16	PR/SET domain 16	gene	DOID:0081157	dilated cardiomyopathy 1LL		ISO	RGD:1353101	D	RGD:7240710	20180130	OMIM			
8733286	Prdm16	PR/SET domain 16	gene	DOID:0081157	dilated cardiomyopathy 1LL		ISO	RGD:1353101	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1LL | ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 8 | ClinVar Annotator: match by term: Left ventricular noncompaction 8 | ClinVar Annotator: match by term: PRDM16-related condition | ClinVar Annotator: match by term: PRDM16-related congenital heart disease	PMID:16199547|PMID:17576681|PMID:23768516|PMID:24033266|PMID:24140581|PMID:24387995|PMID:25640679|PMID:25741868|PMID:26350513|PMID:27956748|PMID:28492532|PMID:29367541|PMID:29447731|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31648988|PMID:31983221|PMID:32041989|PMID:32233023|PMID:32746448|PMID:32880476|PMID:33500567|PMID:34540771|PMID:36178741|PMID:37198425|PMID:37614113|PMID:9536098
8733286	Prdm16	PR/SET domain 16	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1353101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:24033266|PMID:28492532
8733286	Prdm16	PR/SET domain 16	gene	DOID:1059	intellectual disability		ISO	RGD:1353101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
8733286	Prdm16	PR/SET domain 16	gene	DOID:11830	myopia		ISO	RGD:1353101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
8733286	Prdm16	PR/SET domain 16	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1353101	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:23768516|PMID:25741868|PMID:28492532
8733286	Prdm16	PR/SET domain 16	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1353101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:28492532
8733286	Prdm16	PR/SET domain 16	gene	DOID:1324	lung cancer		ISO	RGD:1353101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8733286	Prdm16	PR/SET domain 16	gene	DOID:1596	depressive disorder		ISO	RGD:1353101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:24033266|PMID:25741868|PMID:28492532
8733286	Prdm16	PR/SET domain 16	gene	DOID:1826	epilepsy		ISO	RGD:1353101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
8733286	Prdm16	PR/SET domain 16	gene	DOID:2030	anxiety disorder		ISO	RGD:1353101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:24033266|PMID:25741868|PMID:28492532
8733286	Prdm16	PR/SET domain 16	gene	DOID:2841	asthma		ISO	RGD:1353101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:24033266|PMID:28492532
8733286	Prdm16	PR/SET domain 16	gene	DOID:3393	coronary artery disease		ISO	RGD:1353101	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:35590109
8733286	Prdm16	PR/SET domain 16	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1353101	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:25741868|PMID:28492532|PMID:32233023|PMID:37614113
8733286	Prdm16	PR/SET domain 16	gene	DOID:397	restrictive cardiomyopathy		ISO	RGD:1353101	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial restrictive cardiomyopathy	PMID:23768516|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572
8733286	Prdm16	PR/SET domain 16	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:27956748|PMID:28492532|PMID:31648988
8733286	Prdm16	PR/SET domain 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733286	Prdm16	PR/SET domain 16	gene	DOID:630	genetic disease		ISO	RGD:1353101	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:24140581|PMID:25741868|PMID:28492532|PMID:32746448
8733286	Prdm16	PR/SET domain 16	gene	DOID:6364	migraine		ISO	RGD:1353101	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21666692
8733286	Prdm16	PR/SET domain 16	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1353101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532
8733286	Prdm16	PR/SET domain 16	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1353101	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:25741868|PMID:31333075|PMID:31568572|PMID:34540771
8733286	Prdm16	PR/SET domain 16	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1353101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:24033266|PMID:28492532
8733286	Prdm16	PR/SET domain 16	gene	DOID:9001733	Tinnitus		ISO	RGD:1353101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:24033266|PMID:28492532
8733286	Prdm16	PR/SET domain 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733286	Prdm16	PR/SET domain 16	gene	DOID:9007736	Vertigo		ISO	RGD:1353101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:24033266|PMID:28492532
8733286	Prdm16	PR/SET domain 16	gene	DOID:9008023	Memory Disorders		ISO	RGD:1353101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:24033266|PMID:28492532
8733286	Prdm16	PR/SET domain 16	gene	DOID:9834	hyperopia		ISO	RGD:1353101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:24033266|PMID:25741868|PMID:28492532
8733286	Prdm16	PR/SET domain 16	gene	DOID:9970	obesity		ISO	RGD:1353101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:24033266|PMID:25741868|PMID:28492532
8733305	Sh3bp4	SH3 domain binding protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8733305	Sh3bp4	SH3 domain binding protein 4	gene	DOID:0070297	primary microcephaly		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
8733305	Sh3bp4	SH3 domain binding protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8733305	Sh3bp4	SH3 domain binding protein 4	gene	DOID:1115	sarcoma		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8733305	Sh3bp4	SH3 domain binding protein 4	gene	DOID:11720	distal myopathy		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:25741868
8733305	Sh3bp4	SH3 domain binding protein 4	gene	DOID:12215	oligohydramnios		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
8733305	Sh3bp4	SH3 domain binding protein 4	gene	DOID:1324	lung cancer		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8733305	Sh3bp4	SH3 domain binding protein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8733305	Sh3bp4	SH3 domain binding protein 4	gene	DOID:2513	basal cell carcinoma		ISO	RGD:731485	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8733305	Sh3bp4	SH3 domain binding protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:731485	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8733305	Sh3bp4	SH3 domain binding protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733305	Sh3bp4	SH3 domain binding protein 4	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
8733305	Sh3bp4	SH3 domain binding protein 4	gene	DOID:7319	axonal neuropathy		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Motor axonal neuropathy	PMID:25741868
8733305	Sh3bp4	SH3 domain binding protein 4	gene	DOID:8488	polyhydramnios		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
8733305	Sh3bp4	SH3 domain binding protein 4	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
8733305	Sh3bp4	SH3 domain binding protein 4	gene	DOID:9003507	Premature Birth		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
8733305	Sh3bp4	SH3 domain binding protein 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8733305	Sh3bp4	SH3 domain binding protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733305	Sh3bp4	SH3 domain binding protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8733326	Exosc3	exosome component 3	gene	DOID:0050453	lissencephaly		ISO	RGD:1312357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lissencephaly	PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345
8733326	Exosc3	exosome component 3	gene	DOID:0060264	pontocerebellar hypoplasia		ISO	RGD:1312357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pontocerebellar hypoplasia	PMID:18414213|PMID:22544365|PMID:23284067|PMID:23975261|PMID:24033266|PMID:24524299|PMID:25533962|PMID:25741868|PMID:25809939|PMID:28492532|PMID:31980526|PMID:33462000|PMID:34056100|PMID:36004024
8733326	Exosc3	exosome component 3	gene	DOID:0060266	pontocerebellar hypoplasia type 1B		ISO	RGD:1312357	D	RGD:7240710	20180130	OMIM			
8733326	Exosc3	exosome component 3	gene	DOID:0060266	pontocerebellar hypoplasia type 1B		ISO	RGD:1312357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EXOSC3-related condition | ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia | ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1B | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1B | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1b	PMID:16199547|PMID:18414213|PMID:22544365|PMID:23284067|PMID:23975261|PMID:24033266|PMID:24524299|PMID:25533962|PMID:25741868|PMID:25809939|PMID:27777260|PMID:28053271|PMID:28492532|PMID:29093021|PMID:30025162|PMID:30221345|PMID:30986545|PMID:31692161|PMID:31980526|PMID:33462000|PMID:34056100|PMID:36004024
8733326	Exosc3	exosome component 3	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1312357	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:22544365|PMID:23564332|PMID:23883322|PMID:23975261|PMID:24524299|PMID:24970098|PMID:25149867|PMID:25533962|PMID:25741868|PMID:27146152|PMID:27777260|PMID:28492532|PMID:28687512|PMID:29186371|PMID:29444210|PMID:29656927|PMID:30986545|PMID:34582790|PMID:37337484|PMID:38347586
8733326	Exosc3	exosome component 3	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1312357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345
8733326	Exosc3	exosome component 3	gene	DOID:0081337	congenital myopathy		ISO	RGD:1312357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345
8733326	Exosc3	exosome component 3	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1312357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pena-Shokeir syndrome type I	PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345
8733326	Exosc3	exosome component 3	gene	DOID:0112322	pontocerebellar hypoplasia type 1		ISO	RGD:1312357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22544365
8733326	Exosc3	exosome component 3	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1312357	D	RGD:9068941	20220421	RGD		mRNA:altered expression:stomach, tumor (human)	PMID:29069277|REF_RGD_ID:151893464
8733326	Exosc3	exosome component 3	gene	DOID:10907	microcephaly		ISO	RGD:1312357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345
8733326	Exosc3	exosome component 3	gene	DOID:4362	cervical cancer		ISO	RGD:1312357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8733326	Exosc3	exosome component 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733326	Exosc3	exosome component 3	gene	DOID:630	genetic disease		ISO	RGD:1312357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8733326	Exosc3	exosome component 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345
8733326	Exosc3	exosome component 3	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1312357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:18414213|PMID:23975261|PMID:24033266|PMID:25741868|PMID:25809939|PMID:28492532|PMID:34056100
8733326	Exosc3	exosome component 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345
8733326	Exosc3	exosome component 3	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1312357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345
8733334	Macrod2	mono-ADP ribosylhydrolase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8733334	Macrod2	mono-ADP ribosylhydrolase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8733334	Macrod2	mono-ADP ribosylhydrolase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1347920	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:27569545
8733334	Macrod2	mono-ADP ribosylhydrolase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8733334	Macrod2	mono-ADP ribosylhydrolase 2	gene	DOID:12849	autistic disorder		ISO	RGD:1347920	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
8733334	Macrod2	mono-ADP ribosylhydrolase 2	gene	DOID:1909	melanoma		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8733334	Macrod2	mono-ADP ribosylhydrolase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8733334	Macrod2	mono-ADP ribosylhydrolase 2	gene	DOID:303	substance-related disorder		ISO	RGD:1347920	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8733334	Macrod2	mono-ADP ribosylhydrolase 2	gene	DOID:3275	thymoma		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8733334	Macrod2	mono-ADP ribosylhydrolase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8733334	Macrod2	mono-ADP ribosylhydrolase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8733334	Macrod2	mono-ADP ribosylhydrolase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347920	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8733334	Macrod2	mono-ADP ribosylhydrolase 2	gene	DOID:5419	schizophrenia		ISO	RGD:1347920	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
8733334	Macrod2	mono-ADP ribosylhydrolase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8733334	Macrod2	mono-ADP ribosylhydrolase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733334	Macrod2	mono-ADP ribosylhydrolase 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8733334	Macrod2	mono-ADP ribosylhydrolase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733334	Macrod2	mono-ADP ribosylhydrolase 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1347920	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27064257
8733334	Macrod2	mono-ADP ribosylhydrolase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8733366	Znhit3	zinc finger HIT-type containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8733366	Znhit3	zinc finger HIT-type containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8733366	Znhit3	zinc finger HIT-type containing 3	gene	DOID:0080539	PEHO syndrome		ISO	RGD:1315114	D	RGD:7240710	20190315	OMIM			
8733366	Znhit3	zinc finger HIT-type containing 3	gene	DOID:0080539	PEHO syndrome		ISO	RGD:1315114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PEHO SYNDROME | ClinVar Annotator: match by term: PEHO syndrome	PMID:25741868|PMID:28335020|PMID:31048081
8733366	Znhit3	zinc finger HIT-type containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8733366	Znhit3	zinc finger HIT-type containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1315114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8733366	Znhit3	zinc finger HIT-type containing 3	gene	DOID:3275	thymoma		ISO	RGD:1315114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8733366	Znhit3	zinc finger HIT-type containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733366	Znhit3	zinc finger HIT-type containing 3	gene	DOID:630	genetic disease		ISO	RGD:1315114	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8733378	Cd46	CD46 molecule	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
8733378	Cd46	CD46 molecule	gene	DOID:0080176	meningococcal meningitis		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD			PMID:12869763|REF_RGD_ID:6483466
8733378	Cd46	CD46 molecule	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	
8733378	Cd46	CD46 molecule	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	PMID:10528197|PMID:14566051|PMID:14615110|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23731345|PMID:23780777|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:29500241|PMID:29566171|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389
8733378	Cd46	CD46 molecule	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20220621	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	PMID:14566051|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23731345|PMID:23780777|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:30305631|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389
8733378	Cd46	CD46 molecule	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	PMID:11414356|PMID:14566051|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:30305631|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389
8733378	Cd46	CD46 molecule	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	PMID:14566051|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:30046676|PMID:30305631|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389
8733378	Cd46	CD46 molecule	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	PMID:14566051|PMID:16199547|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:21810760|PMID:23314101|PMID:23431077|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24033266|PMID:24161037|PMID:24247905|PMID:2431077|PMID:24460647|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:29644059|PMID:30046676|PMID:30305631|PMID:30609409|PMID:30676336|PMID:33213850|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389
8733378	Cd46	CD46 molecule	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	PMID:14566051|PMID:16199547|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17018561|PMID:17089378|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:21810760|PMID:23314101|PMID:23431077|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24033266|PMID:24161037|PMID:24247905|PMID:2431077|PMID:24460647|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:29644059|PMID:30046676|PMID:30305631|PMID:30609409|PMID:30676336|PMID:33213850|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389
8733378	Cd46	CD46 molecule	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	PMID:14566051|PMID:16199547|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17018561|PMID:17089378|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:21810760|PMID:23314101|PMID:23431077|PMID:23508668|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24033266|PMID:24161037|PMID:24247905|PMID:2431077|PMID:24460647|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27064621|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29511899|PMID:29566171|PMID:29644059|PMID:30046676|PMID:30305631|PMID:30377230|PMID:30609409|PMID:30676336|PMID:30905589|PMID:31945341|PMID:33213850|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389
8733378	Cd46	CD46 molecule	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	PMID:14566051|PMID:16199547|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17018561|PMID:17089378|PMID:17576681|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:21810760|PMID:23314101|PMID:23431077|PMID:23508668|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24033266|PMID:24161037|PMID:24247905|PMID:2431077|PMID:24460647|PMID:24799305|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27064621|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28596415|PMID:28752844|PMID:29046944|PMID:29148534|PMID:29500241|PMID:29511899|PMID:29566171|PMID:29644059|PMID:30046676|PMID:30305631|PMID:30377230|PMID:30609409|PMID:30676336|PMID:30905589|PMID:31945341|PMID:32424742|PMID:33213850|PMID:33224962|PMID:34004375|PMID:34169201|PMID:3480783|PMID:35372954|PMID:9536098|PMID:9551389
8733378	Cd46	CD46 molecule	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:14566051|PMID:16199547|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17018561|PMID:17089378|PMID:17576681|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:21810760|PMID:23314101|PMID:23431077|PMID:23508668|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24033266|PMID:24161037|PMID:24247905|PMID:2431077|PMID:24460647|PMID:24799305|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27064621|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28596415|PMID:28752844|PMID:29046944|PMID:29148534|PMID:29500241|PMID:29511899|PMID:29566171|PMID:29644059|PMID:30046676|PMID:30305631|PMID:30377230|PMID:30609409|PMID:30676336|PMID:30905589|PMID:31945341|PMID:32424742|PMID:33213850|PMID:33224962|PMID:34004375|PMID:34169200|PMID:34169201|PMID:3480783|PMID:35372954|PMID:9536098|PMID:9551389
8733378	Cd46	CD46 molecule	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	PMID:14566051|PMID:16199547|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17018561|PMID:17089378|PMID:17576681|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21445332|PMID:21706448|PMID:21810760|PMID:23314101|PMID:23431077|PMID:23508668|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24033266|PMID:24161037|PMID:24247905|PMID:2431077|PMID:24460647|PMID:24799305|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25710174|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:26895476|PMID:270646|PMID:27064621|PMID:27399110|PMID:28056875|PMID:28461395|PMID:28492532|PMID:28509134|PMID:28596415|PMID:28752844|PMID:29046944|PMID:29148534|PMID:29327071|PMID:29500241|PMID:29511899|PMID:29563339|PMID:29566171|PMID:29644059|PMID:30046676|PMID:30305631|PMID:30377230|PMID:30483272|PMID:30609409|PMID:30676336|PMID:30905589|PMID:31945341|PMID:32424742|PMID:33213850|PMID:33224962|PMID:34004375|PMID:34169200|PMID:34169201|PMID:3480783|PMID:35372954|PMID:37744338|PMID:9536098|PMID:9551389
8733378	Cd46	CD46 molecule	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	PMID:14566051|PMID:16199547|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17018561|PMID:17089378|PMID:17576681|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21445332|PMID:21706448|PMID:21810760|PMID:23307876|PMID:23314101|PMID:23431077|PMID:23508668|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24033266|PMID:24161037|PMID:24247905|PMID:2431077|PMID:24460647|PMID:24799305|PMID:24944786|PMID:25381125|PMID:25443527|PMID:25525159|PMID:25710174|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:26895476|PMID:270646|PMID:27064621|PMID:27399110|PMID:28056875|PMID:28461395|PMID:28492532|PMID:28509134|PMID:28596415|PMID:28752844|PMID:29046944|PMID:29148534|PMID:29327071|PMID:29500241|PMID:29511899|PMID:29563339|PMID:29566171|PMID:29644059|PMID:30046676|PMID:30305631|PMID:30377230|PMID:30483272|PMID:30609409|PMID:30676336|PMID:30905589|PMID:31945341|PMID:32424742|PMID:33213850|PMID:33224962|PMID:34004375|PMID:34169200|PMID:34169201|PMID:3480783|PMID:35372954|PMID:37369098|PMID:37744338|PMID:39097532|PMID:9536098|PMID:9551389
8733378	Cd46	CD46 molecule	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome	PMID:10751138|PMID:10960475|PMID:11093164|PMID:11714708|PMID:14566051|PMID:15661753|PMID:16014961|PMID:16199547|PMID:16386793|PMID:16621965|PMID:16762990|PMID:17027083|PMID:17089378|PMID:17261436|PMID:17914026|PMID:18514989|PMID:19376828|PMID:19446882|PMID:19459807|PMID:20059470|PMID:20301541|PMID:20513133|PMID:20595690|PMID:21706448|PMID:21840606|PMID:21906045|PMID:22410797|PMID:23307876|PMID:23314101|PMID:23389237|PMID:23431077|PMID:23475501|PMID:23508668|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24247905|PMID:24422172|PMID:24656451|PMID:24799305|PMID:24933457|PMID:25079699|PMID:25381125|PMID:25443527|PMID:25733390|PMID:25741868|PMID:25802092|PMID:25899302|PMID:26054645|PMID:26069743|PMID:26084023|PMID:26283675|PMID:26307634|PMID:26357573|PMID:26559391|PMID:26826462|PMID:27064621|PMID:27190382|PMID:27268256|PMID:27718086|PMID:27799617|PMID:27959629|PMID:27974740|PMID:28056875|PMID:28492532|PMID:28596415|PMID:28750931|PMID:28821363|PMID:28844315|PMID:29148534|PMID:29282226|PMID:29500241|PMID:29511899|PMID:29533929|PMID:29556035|PMID:29563339|PMID:29566171|PMID:29567368|PMID:29644059|PMID:29693967|PMID:29695177|PMID:30039480|PMID:30046676|PMID:30377230|PMID:30674459|PMID:30890598|PMID:30905589|PMID:30916388|PMID:31118930|PMID:31945341|PMID:32342491|PMID:32424742|PMID:32641076|PMID:32765494|PMID:33224962|PMID:33238263|PMID:33912760|PMID:33920896|PMID:34004375|PMID:34169200|PMID:34169201|PMID:34566977|PMID:3480783|PMID:35619721|PMID:36141710|PMID:36211394|PMID:36421183|PMID:36622444|PMID:37369098|PMID:37466676|PMID:37477760|PMID:37685848|PMID:37744338|PMID:38403763|PMID:39534187|PMID:9268348|PMID:9551389
8733378	Cd46	CD46 molecule	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome	PMID:10751138|PMID:10960475|PMID:11093164|PMID:11714708|PMID:14566051|PMID:15661753|PMID:16014961|PMID:16199547|PMID:16386793|PMID:16621965|PMID:16762990|PMID:17027083|PMID:17089378|PMID:17261436|PMID:17914026|PMID:18514989|PMID:19376828|PMID:19446882|PMID:19459807|PMID:20059470|PMID:20301541|PMID:20513133|PMID:20595690|PMID:21706448|PMID:21840606|PMID:21906045|PMID:22410797|PMID:23251215|PMID:23307876|PMID:23314101|PMID:23389237|PMID:23431077|PMID:23475501|PMID:23508668|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24161037|PMID:24247905|PMID:24422172|PMID:24656451|PMID:24799305|PMID:24933457|PMID:25079699|PMID:25188723|PMID:25381125|PMID:25443527|PMID:25733390|PMID:25741868|PMID:25802092|PMID:25899302|PMID:26054645|PMID:26069743|PMID:26084023|PMID:26283675|PMID:26307634|PMID:26357573|PMID:26559391|PMID:26826462|PMID:26989566|PMID:27064621|PMID:27190382|PMID:27268256|PMID:27718086|PMID:27799617|PMID:27959629|PMID:27974740|PMID:28056875|PMID:28492532|PMID:28596415|PMID:28750931|PMID:28821363|PMID:28844315|PMID:29046944|PMID:29148534|PMID:29282226|PMID:29500241|PMID:29511899|PMID:29533929|PMID:29556035|PMID:29563339|PMID:29566171|PMID:29567368|PMID:29644059|PMID:29693967|PMID:29695177|PMID:30039480|PMID:30046676|PMID:30377230|PMID:30674459|PMID:30890598|PMID:30905589|PMID:30916388|PMID:31118930|PMID:31589614|PMID:31945341|PMID:32342491|PMID:32424742|PMID:32641076|PMID:32765494|PMID:33224962|PMID:33238263|PMID:33912760|PMID:33920896|PMID:34004375|PMID:34169200|PMID:34169201|PMID:34566977|PMID:34777475|PMID:34838142|PMID:35619721|PMID:35877417|PMID:36141710|PMID:36211394|PMID:36421183|PMID:36498532|PMID:36622444|PMID:37369098|PMID:37466676|PMID:37477760|PMID:37685848|PMID:37744338|PMID:38403763|PMID:39006921|PMID:39534187|PMID:40294836|PMID:9268348
8733378	Cd46	CD46 molecule	gene	DOID:0080301	atypical hemolytic-uremic syndrome	severity	ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:multiple (human)	PMID:20595690|REF_RGD_ID:11038684
8733378	Cd46	CD46 molecule	gene	DOID:0080301	atypical hemolytic-uremic syndrome	susceptibility	ISO	RGD:1346662	D	RGD:7240710	20190502	OMIM			
8733378	Cd46	CD46 molecule	gene	DOID:0080909	castration-resistant prostate carcinoma		ISO	RGD:1346662	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30185663
8733378	Cd46	CD46 molecule	gene	DOID:0080998	acute necrotizing pancreatitis	severity	ISO	RGD:3061	D	RGD:9068941	20200609	RGD			PMID:16425382|REF_RGD_ID:1600479
8733378	Cd46	CD46 molecule	gene	DOID:10534	stomach cancer		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8733378	Cd46	CD46 molecule	gene	DOID:10591	pre-eclampsia	no_association	ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.A304V (human)	PMID:25710174|REF_RGD_ID:11352807
8733378	Cd46	CD46 molecule	gene	DOID:10591	pre-eclampsia	susceptibility	ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.A304V (human)	PMID:21445332|REF_RGD_ID:6483459
8733378	Cd46	CD46 molecule	gene	DOID:1063	interstitial nephritis		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Interstitial nephritis	
8733378	Cd46	CD46 molecule	gene	DOID:1074	kidney failure		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	
8733378	Cd46	CD46 molecule	gene	DOID:10772	thrombotic thrombocytopenic purpura		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microangiopathic hemolytic anemia	PMID:25741868
8733378	Cd46	CD46 molecule	gene	DOID:10871	age related macular degeneration		ISO	RGD:736683	D	RGD:9068941	20220825	MouseDO			
8733378	Cd46	CD46 molecule	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8733378	Cd46	CD46 molecule	gene	DOID:11664	nephrosclerosis		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrosclerosis	
8733378	Cd46	CD46 molecule	gene	DOID:12554	hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic-uremic syndrome	PMID:25741868|PMID:33238263
8733378	Cd46	CD46 molecule	gene	DOID:12554	hemolytic-uremic syndrome	susceptibility	ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human)	PMID:14566051|REF_RGD_ID:11352770
8733378	Cd46	CD46 molecule	gene	DOID:1324	lung cancer		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8733378	Cd46	CD46 molecule	gene	DOID:1588	thrombocytopenia		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
8733378	Cd46	CD46 molecule	gene	DOID:2377	multiple sclerosis		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD			PMID:21177319|REF_RGD_ID:6483460
8733378	Cd46	CD46 molecule	gene	DOID:2452	thrombophilia		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:placenta (human)	PMID:23042280|REF_RGD_ID:11352772
8733378	Cd46	CD46 molecule	gene	DOID:2773	contact dermatitis		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD			PMID:12055630|REF_RGD_ID:6483467
8733378	Cd46	CD46 molecule	gene	DOID:3021	acute kidney failure		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute kidney injury	PMID:25741868
8733378	Cd46	CD46 molecule	gene	DOID:3326	purpura		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Petechiae	
8733378	Cd46	CD46 molecule	gene	DOID:3459	breast carcinoma		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		protein:increased expression:very strong diffuse staining on carcinomas	PMID:7532466|REF_RGD_ID:2293551
8733378	Cd46	CD46 molecule	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:significant association with tumor grade (p < 0.05), type (p < 0.001) and incidence of recurrence (p < 0.05)	PMID:15378282|REF_RGD_ID:2293547
8733378	Cd46	CD46 molecule	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8733378	Cd46	CD46 molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8733378	Cd46	CD46 molecule	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		protein:decreased expression:tumor:expression associated with presence of complement C3d on tumor cells (p<0.02) and with tumor stage (p<0.04)	PMID:10744069|REF_RGD_ID:2293550
8733378	Cd46	CD46 molecule	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8733378	Cd46	CD46 molecule	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8733378	Cd46	CD46 molecule	gene	DOID:557	kidney disease		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:15661753|PMID:20595690|PMID:25741868|PMID:27064621|PMID:28492532
8733378	Cd46	CD46 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733378	Cd46	CD46 molecule	gene	DOID:576	proteinuria		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	
8733378	Cd46	CD46 molecule	gene	DOID:583	hemolytic anemia		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia | ClinVar Annotator: match by term: Microangiopathic hemolytic anemia	PMID:25741868
8733378	Cd46	CD46 molecule	gene	DOID:783	end stage renal disease		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:25741868|PMID:33238263
8733378	Cd46	CD46 molecule	gene	DOID:784	chronic kidney disease		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	
8733378	Cd46	CD46 molecule	gene	DOID:8622	measles		ISO	RGD:1346662	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8402913
8733378	Cd46	CD46 molecule	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:9358772|REF_RGD_ID:2293549
8733378	Cd46	CD46 molecule	gene	DOID:9000363	Hematuria		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematuria | ClinVar Annotator: match by term: Macroscopic hematuria	
8733378	Cd46	CD46 molecule	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD			PMID:21852528|REF_RGD_ID:6483461
8733378	Cd46	CD46 molecule	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD			PMID:12183422|PMID:15726105|REF_RGD_ID:2306066|REF_RGD_ID:2306067
8733378	Cd46	CD46 molecule	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:1346662	D	RGD:9068941	20200609	RGD			PMID:17214367|REF_RGD_ID:2306065
8733378	Cd46	CD46 molecule	gene	DOID:9002834	Herpesviridae Infections		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		associated with Multiple Sclerosis	PMID:19456309|REF_RGD_ID:6483463
8733378	Cd46	CD46 molecule	gene	DOID:9002884	Emphysema		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD			PMID:21573156|REF_RGD_ID:6483458
8733378	Cd46	CD46 molecule	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		protein:increased expression, altered expression pattern:tumor:intense uniform staining of tumor cells vs heterogeneous staining of normal tissue and premalignant lesions	PMID:9358772|REF_RGD_ID:2293549
8733378	Cd46	CD46 molecule	gene	DOID:9003505	Venous Thromboembolism	severity	ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (human)	PMID:25684211|REF_RGD_ID:11352815
8733378	Cd46	CD46 molecule	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Venous thrombosis	
8733378	Cd46	CD46 molecule	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:versus benign endometrium (p<0.0001)	PMID:10637067|REF_RGD_ID:2293548
8733378	Cd46	CD46 molecule	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8733378	Cd46	CD46 molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8733378	Cd46	CD46 molecule	gene	DOID:9074	systemic lupus erythematosus	severity	ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		mRNA:increased expression:leukocyte (human)	PMID:22247341|REF_RGD_ID:6483457
8733378	Cd46	CD46 molecule	gene	DOID:934	viral infectious disease		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		protein:increased expression:monocyte (human)	PMID:23376460|REF_RGD_ID:11352813
8733378	Cd46	CD46 molecule	gene	DOID:9470	bacterial meningitis		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD			PMID:16948860|REF_RGD_ID:6483465
8733378	Cd46	CD46 molecule	gene	DOID:9538	multiple myeloma		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma cell (human)	PMID:16728275|REF_RGD_ID:11352814
8733378	Cd46	CD46 molecule	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood mononuclear cell (human)	PMID:16353080|REF_RGD_ID:11352810
8733413	Notch1	notch receptor 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8733413	Notch1	notch receptor 1	gene	DOID:0050145	adenoiditis		ISO	RGD:737367	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Chronic adenoiditis	PMID:25741868|PMID:28492532
8733413	Notch1	notch receptor 1	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:737367	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:16707600|REF_RGD_ID:1580759
8733413	Notch1	notch receptor 1	gene	DOID:0050581	brachydactyly		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
8733413	Notch1	notch receptor 1	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:10998	D	RGD:9068941	20220204	RGD		protein:increased expression:tongue (mouse)	PMID:30624777|REF_RGD_ID:151347668
8733413	Notch1	notch receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8733413	Notch1	notch receptor 1	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	
8733413	Notch1	notch receptor 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:737367	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8733413	Notch1	notch receptor 1	gene	DOID:0060058	lymphoma		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18798262
8733413	Notch1	notch receptor 1	gene	DOID:0060227	Adams-Oliver syndrome		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adams-Oliver syndrome	PMID:25741868
8733413	Notch1	notch receptor 1	gene	DOID:0060249	scoliosis		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17849441
8733413	Notch1	notch receptor 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adenoid cystic carcinoma	
8733413	Notch1	notch receptor 1	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:737367	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532|PMID:30255099
8733413	Notch1	notch receptor 1	gene	DOID:0080333	aortic valve disease 1		ISO	RGD:737367	D	RGD:7240710	20180130	OMIM			
8733413	Notch1	notch receptor 1	gene	DOID:0080333	aortic valve disease 1		ISO	RGD:737367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AORTIC VALVE DISEASE 1 | ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition	PMID:15472075|PMID:15712195|PMID:16025100|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24033266|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25132448|PMID:25260786|PMID:25500235|PMID:25741868|PMID:25963545|PMID:26178433|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:27760138|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28659821|PMID:29392406|PMID:29447731|PMID:29535388|PMID:29555671|PMID:29641532|PMID:29767458|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30255099|PMID:30582441|PMID:30675029|PMID:31624253|PMID:31633846|PMID:31866570|PMID:32154576|PMID:32720365|PMID:32748548|PMID:33057194|PMID:33064175|PMID:33110418|PMID:33208564|PMID:33630301|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34498425|PMID:34668355|PMID:35101336|PMID:35186194|PMID:35288444|PMID:35811711|PMID:36140728|PMID:36866832|PMID:37198425|PMID:38778082|PMID:40646242|PMID:9536098
8733413	Notch1	notch receptor 1	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27M-mutant	PMID:22006338|PMID:24140581|PMID:25642631|PMID:27993330|PMID:29924900|PMID:36265581
8733413	Notch1	notch receptor 1	gene	DOID:0080878	IDH-wildtype glioblastoma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IDH-wildtype glioblastoma	PMID:22006338|PMID:24651013|PMID:27993330
8733413	Notch1	notch receptor 1	gene	DOID:0080880	diffuse glioma, H3 G34 mutant		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse glioma, H3 G34 mutant	PMID:26061751|PMID:27993330|PMID:28912153|PMID:30710203|PMID:33322834
8733413	Notch1	notch receptor 1	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:27993330|PMID:28912153
8733413	Notch1	notch receptor 1	gene	DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A		ISO	RGD:737367	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Calpainopathy	PMID:25500235|PMID:25741868|PMID:26820064|PMID:27854218|PMID:28492532
8733413	Notch1	notch receptor 1	gene	DOID:0111253	neurofibromatosis 1		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurofibromatosis, type 1	PMID:25741868
8733413	Notch1	notch receptor 1	gene	DOID:10485	esophageal atresia		ISO	RGD:737367	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
8733413	Notch1	notch receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:737367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8733413	Notch1	notch receptor 1	gene	DOID:10629	microphthalmia		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unilateral microphthalmos	PMID:25741868|PMID:28492532
8733413	Notch1	notch receptor 1	gene	DOID:10964	cholesteatoma of middle ear		ISO	RGD:737367	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Cholesteatoma of middle ear	PMID:25741868|PMID:27993330|PMID:28492532
8733413	Notch1	notch receptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8733413	Notch1	notch receptor 1	gene	DOID:1115	sarcoma		ISO	RGD:737367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8733413	Notch1	notch receptor 1	gene	DOID:11782	astigmatism		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
8733413	Notch1	notch receptor 1	gene	DOID:11830	myopia		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8733413	Notch1	notch receptor 1	gene	DOID:12176	goiter		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:25741868|PMID:28492532
8733413	Notch1	notch receptor 1	gene	DOID:1247	blood coagulation disease		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:25741868|PMID:28492532
8733413	Notch1	notch receptor 1	gene	DOID:12849	autistic disorder		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
8733413	Notch1	notch receptor 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25260786|PMID:25741868|PMID:26837699|PMID:28387797|PMID:28492532|PMID:30059548|PMID:31624253
8733413	Notch1	notch receptor 1	gene	DOID:13025	retinopathy of prematurity	treatment	ISO	RGD:3187	D	RGD:9068941	20221117	RGD			PMID:30652694|REF_RGD_ID:155663485
8733413	Notch1	notch receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	
8733413	Notch1	notch receptor 1	gene	DOID:13580	cholestasis		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:16025100|PMID:25132448|PMID:25741868|PMID:35186194|PMID:36866832
8733413	Notch1	notch receptor 1	gene	DOID:1380	endometrial cancer		ISO	RGD:737367	D	RGD:9068941	20200609	RGD		mRNA:increased expression:endometrium	PMID:11078798|REF_RGD_ID:2299153
8733413	Notch1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16729972|PMID:17662764|PMID:18593716|PMID:21457232|PMID:24033266|PMID:24728327|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26708639|PMID:26820064|PMID:27854218|PMID:27989580|PMID:28166811|PMID:28387797|PMID:28492532|PMID:30059548|PMID:30609409|PMID:32748548
8733413	Notch1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16729972|PMID:17662764|PMID:18593716|PMID:21457232|PMID:24033266|PMID:24728327|PMID:25587027|PMID:25741868|PMID:25931334|PMID:26188975|PMID:26708639|PMID:26820064|PMID:27854218|PMID:27989580|PMID:28387797|PMID:28492532|PMID:30609409|PMID:32748548
8733413	Notch1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16729972|PMID:17662764|PMID:18593716|PMID:21457232|PMID:24033266|PMID:24728327|PMID:25587027|PMID:25741868|PMID:25931334|PMID:26188975|PMID:26708639|PMID:26820064|PMID:27989580|PMID:28387797|PMID:28492532|PMID:30609409|PMID:32748548
8733413	Notch1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:22077063|PMID:22225590|PMID:23040356|PMID:23578328|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26893459|PMID:27854218|PMID:27989580|PMID:28074886|PMID:28166811|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098
8733413	Notch1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:22077063|PMID:22225590|PMID:23040356|PMID:23578328|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26893459|PMID:27760138|PMID:27854218|PMID:27989580|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098
8733413	Notch1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:22077063|PMID:22225590|PMID:23040356|PMID:23578328|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26893459|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29706348|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098
8733413	Notch1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15472075|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29706348|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098
8733413	Notch1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15472075|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29706348|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098
8733413	Notch1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15472075|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27854218|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29706348|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098
8733413	Notch1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15472075|PMID:16025100|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20007775|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27854218|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28963436|PMID:28991257|PMID:29641532|PMID:29706348|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32720365|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33630301|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34461831|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098
8733413	Notch1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15472075|PMID:16025100|PMID:16199547|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20007775|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28963436|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30255099|PMID:30293987|PMID:30511478|PMID:30582441|PMID:30609409|PMID:30675029|PMID:31624253|PMID:31866570|PMID:32720365|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33630301|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34461831|PMID:34498425|PMID:35101336|PMID:35288444|PMID:35830949|PMID:36973604|PMID:9536098
8733413	Notch1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15472075|PMID:16025100|PMID:16199547|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20007775|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27854218|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28963436|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30255099|PMID:30293987|PMID:30511478|PMID:30582441|PMID:30609409|PMID:30675029|PMID:31624253|PMID:31866570|PMID:32720365|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33630301|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34461831|PMID:34498425|PMID:35101336|PMID:35288444|PMID:35737725|PMID:35830949|PMID:36973604|PMID:9536098
8733413	Notch1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15472075|PMID:16025100|PMID:16199547|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20007775|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28963436|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30255099|PMID:30293987|PMID:30511478|PMID:30582441|PMID:30609409|PMID:30675029|PMID:31624253|PMID:31866570|PMID:32154576|PMID:32720365|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33630301|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34461831|PMID:34498425|PMID:35101336|PMID:35288444|PMID:35737725|PMID:35830949|PMID:36973604|PMID:9536098
8733413	Notch1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15472075|PMID:16025100|PMID:16199547|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20007775|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27854218|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28963436|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30255099|PMID:30293987|PMID:30511478|PMID:30582441|PMID:30609409|PMID:30675029|PMID:31624253|PMID:31866570|PMID:32154576|PMID:32720365|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33630301|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34461831|PMID:34498425|PMID:35101336|PMID:35288444|PMID:35737725|PMID:35830949|PMID:36973604|PMID:9536098
8733413	Notch1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15472075|PMID:16025100|PMID:16199547|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28963436|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30255099|PMID:30293987|PMID:30511478|PMID:30582441|PMID:30609409|PMID:30675029|PMID:31624253|PMID:31866570|PMID:32154576|PMID:32720365|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33630301|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34461831|PMID:34498425|PMID:35101336|PMID:35288444|PMID:35737725|PMID:35830949|PMID:36973604|PMID:38778082|PMID:9536098
8733413	Notch1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15472075|PMID:16025100|PMID:16199547|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26178433|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27854218|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28963436|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30255099|PMID:30293987|PMID:30511478|PMID:30582441|PMID:30609409|PMID:30675029|PMID:31624253|PMID:31866570|PMID:32154576|PMID:32720365|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33630301|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34461831|PMID:34498425|PMID:35101336|PMID:35288444|PMID:35737725|PMID:35830949|PMID:36973604|PMID:38778082|PMID:9536098
8733413	Notch1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15472075|PMID:16025100|PMID:16199547|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25104330|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26010070|PMID:26178433|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28963436|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30115950|PMID:30255099|PMID:30293987|PMID:30511478|PMID:30582441|PMID:30609409|PMID:30675029|PMID:31279624|PMID:31624253|PMID:31633846|PMID:31866570|PMID:32154576|PMID:32720365|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33630301|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34461831|PMID:34498425|PMID:35101336|PMID:35288444|PMID:35737725|PMID:35830949|PMID:36973604|PMID:37198425|PMID:38778082|PMID:9536098
8733413	Notch1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections | ClinVar Annotator: match by term: thoracic aortic aneurysms	PMID:15472075|PMID:16614245|PMID:16729972|PMID:17576681|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20951801|PMID:20981092|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24033266|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25260786|PMID:25741868|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:27760138|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28659821|PMID:29535388|PMID:29641532|PMID:29907982|PMID:30059548|PMID:30255099|PMID:30582441|PMID:30675029|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33057194|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34498425|PMID:34668355|PMID:35101336|PMID:35186194|PMID:35288444|PMID:35811711|PMID:37198425|PMID:38778082|PMID:9536098
8733413	Notch1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections | ClinVar Annotator: match by term: thoracic aortic aneurysms	PMID:15472075|PMID:16614245|PMID:16729972|PMID:17576681|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20951801|PMID:20981092|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24033266|PMID:24418111|PMID:24943832|PMID:25260786|PMID:25741868|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:27760138|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28659821|PMID:29535388|PMID:29641532|PMID:29907982|PMID:30059548|PMID:30255099|PMID:30582441|PMID:30675029|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33057194|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34498425|PMID:34668355|PMID:35101336|PMID:35186194|PMID:35288444|PMID:35811711|PMID:37198425|PMID:38778082|PMID:9536098
8733413	Notch1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections | ClinVar Annotator: match by term: thoracic aortic aneurysms	PMID:15472075|PMID:16614245|PMID:16729972|PMID:17576681|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20951801|PMID:20981092|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24033266|PMID:24418111|PMID:24943832|PMID:25260786|PMID:25741868|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:27760138|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28659821|PMID:29535388|PMID:29641532|PMID:29907982|PMID:30059548|PMID:30255099|PMID:30582441|PMID:30675029|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33057194|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34498425|PMID:34668355|PMID:35101336|PMID:35186194|PMID:35288444|PMID:35811711|PMID:37198425|PMID:38778082|PMID:40646242|PMID:9536098
8733413	Notch1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections | ClinVar Annotator: match by term: thoracic aortic aneurysms	PMID:15472075|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24033266|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25260786|PMID:25741868|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:27760138|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28659821|PMID:29535388|PMID:29641532|PMID:29907982|PMID:30059548|PMID:30255099|PMID:30582441|PMID:30675029|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33057194|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34498425|PMID:34668355|PMID:35186194|PMID:35288444|PMID:35811711|PMID:37198425|PMID:38778082|PMID:40646242|PMID:9536098
8733413	Notch1	notch receptor 1	gene	DOID:14323	Marfan syndrome		ISO	RGD:737367	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Marfan syndrome	PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532|PMID:33726816
8733413	Notch1	notch receptor 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:737367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:11003647|PMID:15472075|PMID:16614245|PMID:16738328|PMID:20393564|PMID:29321718|PMID:32327503|PMID:32792479|PMID:35101336|PMID:35186194
8733413	Notch1	notch receptor 1	gene	DOID:1596	depressive disorder		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
8733413	Notch1	notch receptor 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
8733413	Notch1	notch receptor 1	gene	DOID:1682	congenital heart disease		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Defect, Congenital Heart	PMID:25741868
8733413	Notch1	notch receptor 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27923803
8733413	Notch1	notch receptor 1	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:10998	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:17297654|REF_RGD_ID:2325328
8733413	Notch1	notch receptor 1	gene	DOID:182	calcinosis		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22110751
8733413	Notch1	notch receptor 1	gene	DOID:1826	epilepsy		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8733413	Notch1	notch receptor 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:16025100|PMID:25132448|PMID:25741868
8733413	Notch1	notch receptor 1	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:10998	D	RGD:9068941	20221117	RGD			PMID:30909142|REF_RGD_ID:155663380
8733413	Notch1	notch receptor 1	gene	DOID:2030	anxiety disorder		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:18593716|PMID:20951801|PMID:20981092|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30582441
8733413	Notch1	notch receptor 1	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:737367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aplasia cutis congenita	PMID:16025100|PMID:21457232|PMID:25132448|PMID:25741868|PMID:25963545|PMID:28492532|PMID:32720365|PMID:33630301
8733413	Notch1	notch receptor 1	gene	DOID:2226	myeloproliferative neoplasm		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable	PMID:28492532|PMID:35101336
8733413	Notch1	notch receptor 1	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:3187	D	RGD:9068941	20221117	RGD			PMID:30258350|REF_RGD_ID:155663419
8733413	Notch1	notch receptor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:737367	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532
8733413	Notch1	notch receptor 1	gene	DOID:2602	chondroma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enchondroma	PMID:25741868|PMID:28492532
8733413	Notch1	notch receptor 1	gene	DOID:264	hemangiopericytoma		ISO	RGD:737367	D	RGD:9068941	20221110	RGD		mRNA,protein:increased expression:anterior temporal lobe	PMID:26951238|REF_RGD_ID:155663351
8733413	Notch1	notch receptor 1	gene	DOID:3068	glioblastoma		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21127729
8733413	Notch1	notch receptor 1	gene	DOID:3069	malignant astrocytoma		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21127729
8733413	Notch1	notch receptor 1	gene	DOID:3070	high grade glioma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8733413	Notch1	notch receptor 1	gene	DOID:3149	keratoacanthoma		ISO	RGD:737367	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Keratoacanthoma	PMID:27283355
8733413	Notch1	notch receptor 1	gene	DOID:3234	central nervous system lymphoma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary central nervous system lymphoma	PMID:27993330
8733413	Notch1	notch receptor 1	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma	PMID:27993330
8733413	Notch1	notch receptor 1	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma	PMID:11003647|PMID:20852131|PMID:21177409|PMID:22077063|PMID:23734977|PMID:26343114|PMID:27993330|PMID:28614716|PMID:35101336|PMID:35705558|PMID:35705560
8733413	Notch1	notch receptor 1	gene	DOID:3275	thymoma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8733413	Notch1	notch receptor 1	gene	DOID:3312	bipolar disorder		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:25741868|PMID:28492532
8733413	Notch1	notch receptor 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:10998	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal chord	PMID:26067594|REF_RGD_ID:13524575
8733413	Notch1	notch receptor 1	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:10998	D	RGD:9068941	20200609	RGD			PMID:19028876|PMID:20484026|REF_RGD_ID:2325323|REF_RGD_ID:2325324
8733413	Notch1	notch receptor 1	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208345
8733413	Notch1	notch receptor 1	gene	DOID:3627	aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic dilatation	PMID:16025100|PMID:25132448|PMID:25741868
8733413	Notch1	notch receptor 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151357
8733413	Notch1	notch receptor 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:3187	D	RGD:9068941	20221201	RGD		protein:increased expression:lung	PMID:27982686|REF_RGD_ID:155663660
8733413	Notch1	notch receptor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8733413	Notch1	notch receptor 1	gene	DOID:4079	heart valve disease		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22110751
8733413	Notch1	notch receptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:737367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8733413	Notch1	notch receptor 1	gene	DOID:480	movement disease		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:18593716|PMID:20951801|PMID:20981092|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30582441
8733413	Notch1	notch receptor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8733413	Notch1	notch receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:737367	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8733413	Notch1	notch receptor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8733413	Notch1	notch receptor 1	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia | ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia	PMID:15472075|PMID:16738328|PMID:17575125|PMID:17646409|PMID:24651013|PMID:27993330|PMID:28297628|PMID:28671688|PMID:33054110
8733413	Notch1	notch receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733413	Notch1	notch receptor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8733413	Notch1	notch receptor 1	gene	DOID:62	aortic valve disease		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AORTIC VALVE DISEASE | ClinVar Annotator: match by term: Aortic valve disorder	PMID:15472075|PMID:16614245|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20951801|PMID:20981092|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25260786|PMID:25326637|PMID:25741868|PMID:26837699|PMID:28492532|PMID:29641532|PMID:30582441|PMID:31624253
8733413	Notch1	notch receptor 1	gene	DOID:630	genetic disease		ISO	RGD:737367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16025100|PMID:18660822|PMID:21457232|PMID:22326375|PMID:25132448|PMID:25741868|PMID:25963545|PMID:28492532|PMID:32720365|PMID:33630301|PMID:9336830
8733413	Notch1	notch receptor 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:737367	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:19597493|PMID:27760138
8733413	Notch1	notch receptor 1	gene	DOID:6432	pulmonary hypertension	ameliorates	ISO	RGD:10998	D	RGD:9068941	20221110	RGD			PMID:34739767|REF_RGD_ID:155646132
8733413	Notch1	notch receptor 1	gene	DOID:649	prion disease		ISO	RGD:10998	D	RGD:9068941	20200609	RGD			PMID:15640354|REF_RGD_ID:13782159
8733413	Notch1	notch receptor 1	gene	DOID:65	connective tissue disease		ISO	RGD:737367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:15472075|PMID:16614245|PMID:16729972|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:21457232|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24728327|PMID:24943832|PMID:25741868|PMID:26837699|PMID:27760138|PMID:28074886|PMID:28387797|PMID:28492532|PMID:33914609|PMID:33994118|PMID:35288444|PMID:40646242
8733413	Notch1	notch receptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8733413	Notch1	notch receptor 1	gene	DOID:83	cataract		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868|PMID:28492532
8733413	Notch1	notch receptor 1	gene	DOID:863	nervous system disease		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23203475
8733413	Notch1	notch receptor 1	gene	DOID:8947	diabetic retinopathy	treatment	ISO	RGD:10998	D	RGD:9068941	20221110	RGD			PMID:30787185|REF_RGD_ID:155663348
8733413	Notch1	notch receptor 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:16025100|PMID:25132448|PMID:25741868|PMID:28387797|PMID:28492532|PMID:30059548
8733413	Notch1	notch receptor 1	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Subarachnoid hemorrhage	PMID:25741868|PMID:35186194|PMID:36866832
8733413	Notch1	notch receptor 1	gene	DOID:9000713	Surgical Wound	ameliorates	ISO	RGD:10998	D	RGD:9068941	20221110	RGD		associated with diabetes mellitus;	PMID:30886104|REF_RGD_ID:155646129
8733413	Notch1	notch receptor 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25260786|PMID:25741868|PMID:26837699|PMID:28492532|PMID:31624253
8733413	Notch1	notch receptor 1	gene	DOID:9000970	Focal Nodular Hyperplasia		ISO	RGD:737367	D	RGD:9068941	20221110	RGD		mRNA:decreased expression:liver	PMID:23870033|REF_RGD_ID:155646133
8733413	Notch1	notch receptor 1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:3187	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:18942116|REF_RGD_ID:2325310
8733413	Notch1	notch receptor 1	gene	DOID:9001733	Tinnitus		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
8733413	Notch1	notch receptor 1	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:18593716|PMID:20951801|PMID:20981092|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30582441|PMID:35288444
8733413	Notch1	notch receptor 1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral hemorrhage	PMID:25741868|PMID:35186194|PMID:36866832
8733413	Notch1	notch receptor 1	gene	DOID:9002720	Splenomegaly		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:16025100|PMID:25132448|PMID:25741868
8733413	Notch1	notch receptor 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
8733413	Notch1	notch receptor 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19147571
8733413	Notch1	notch receptor 1	gene	DOID:9002962	Adams-Oliver Syndrome 2		ISO	RGD:737367	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Adams-Oliver syndrome 2	PMID:18593716|PMID:20951801|PMID:20981092|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30582441
8733413	Notch1	notch receptor 1	gene	DOID:9003126	Hallucinations		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:25741868|PMID:28492532
8733413	Notch1	notch receptor 1	gene	DOID:9003191	Vascular Malformations		ISO	RGD:737367	D	RGD:9068941	20221111	RGD		protein:increased expression:intestine:	PMID:24219762|REF_RGD_ID:155663361
8733413	Notch1	notch receptor 1	gene	DOID:9003191	Vascular Malformations		ISO	RGD:737367	D	RGD:9068941	20221111	RGD		protein:increased expression:serum:	PMID:21955427|REF_RGD_ID:155663363
8733413	Notch1	notch receptor 1	gene	DOID:9003202	Pulmonary Hemorrhage		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hemorrhage	PMID:25741868|PMID:35186194|PMID:36866832
8733413	Notch1	notch receptor 1	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25061499
8733413	Notch1	notch receptor 1	gene	DOID:9003507	Premature Birth		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
8733413	Notch1	notch receptor 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8733413	Notch1	notch receptor 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	PMID:16025100|PMID:25132448|PMID:25741868
8733413	Notch1	notch receptor 1	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:10998	D	RGD:9068941	20221111	RGD			PMID:23188126|REF_RGD_ID:155663352
8733413	Notch1	notch receptor 1	gene	DOID:9004125	Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hemangioma	PMID:25741868
8733413	Notch1	notch receptor 1	gene	DOID:9004268	Uterine Neoplasms		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm of uterus	PMID:25741868|PMID:28492532
8733413	Notch1	notch receptor 1	gene	DOID:9004397	Calcification of Aortic Valve		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16025100
8733413	Notch1	notch receptor 1	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27923803
8733413	Notch1	notch receptor 1	gene	DOID:9004992	Apnea		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	PMID:25741868
8733413	Notch1	notch receptor 1	gene	DOID:9005077	Joint Instability		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
8733413	Notch1	notch receptor 1	gene	DOID:9005173	Microphthalmia and Mental Deficiency		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colobomatous microphthalmia	PMID:26893459
8733413	Notch1	notch receptor 1	gene	DOID:9005274	Polyuria		ISO	RGD:737367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Polyuria	PMID:16025100|PMID:21457232|PMID:25132448|PMID:25741868|PMID:25963545|PMID:28492532|PMID:32720365|PMID:33630301
8733413	Notch1	notch receptor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:18593716|PMID:20951801|PMID:20981092|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30582441
8733413	Notch1	notch receptor 1	gene	DOID:9005647	Experimental Autoimmune Uveitis	disease_progression	ISO	RGD:3187	D	RGD:9068941	20221222	RGD			PMID:31209505|REF_RGD_ID:155791448
8733413	Notch1	notch receptor 1	gene	DOID:9005781	Adams-Oliver Syndrome 5		ISO	RGD:737367	D	RGD:7240710	20180130	OMIM			
8733413	Notch1	notch receptor 1	gene	DOID:9005781	Adams-Oliver Syndrome 5		ISO	RGD:737367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ADAMS-OLIVER SYNDROME 5 | ClinVar Annotator: match by term: Adams-Oliver syndrome 5 | ClinVar Annotator: match by term: NOTCH1-related disorder	PMID:12590261|PMID:12774039|PMID:15472075|PMID:16025100|PMID:16199547|PMID:16614245|PMID:16729972|PMID:16738328|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21670202|PMID:22006338|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23086750|PMID:23102684|PMID:23578328|PMID:23734977|PMID:24033266|PMID:24140581|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25104330|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25642631|PMID:25741868|PMID:25931334|PMID:25963545|PMID:26010070|PMID:26299364|PMID:26669487|PMID:26699486|PMID:26708639|PMID:26785492|PMID:26820064|PMID:26837699|PMID:27077170|PMID:27283355|PMID:27760138|PMID:27993330|PMID:28017968|PMID:28074886|PMID:28166811|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28991257|PMID:29392406|PMID:29447731|PMID:29535388|PMID:29555671|PMID:29641532|PMID:29858025|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30115950|PMID:30255099|PMID:30293987|PMID:30582441|PMID:30675029|PMID:30919572|PMID:31330235|PMID:31624253|PMID:31866570|PMID:31941532|PMID:32720365|PMID:32748548|PMID:33057194|PMID:33076453|PMID:33110418|PMID:33247628|PMID:33630301|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34461831|PMID:34498425|PMID:34668355|PMID:3495735|PMID:35101336|PMID:35186194|PMID:35288444|PMID:35737725|PMID:35811711|PMID:36265581|PMID:36866832|PMID:37198425|PMID:37239988|PMID:38778082|PMID:40127276|PMID:40646242|PMID:4750422|PMID:9536098
8733413	Notch1	notch receptor 1	gene	DOID:9005835	Congenital Abnormalities		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17849441
8733413	Notch1	notch receptor 1	gene	DOID:9005883	Pleural Effusion		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pleural effusion	PMID:16025100|PMID:25132448|PMID:25741868
8733413	Notch1	notch receptor 1	gene	DOID:9006175	Peritoneal Diseases		ISO	RGD:3187	D	RGD:9068941	20200609	RGD		mRNA:increased expression: :	PMID:20056840|REF_RGD_ID:2325288
8733413	Notch1	notch receptor 1	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:3187	D	RGD:9068941	20200609	RGD			PMID:11971902|REF_RGD_ID:625426
8733413	Notch1	notch receptor 1	gene	DOID:9006727	Polydipsia		ISO	RGD:737367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Polydipsia	PMID:16025100|PMID:21457232|PMID:25132448|PMID:25741868|PMID:25963545|PMID:28492532|PMID:32720365|PMID:33630301
8733413	Notch1	notch receptor 1	gene	DOID:9006945	Diabetic Cardiomyopathies	treatment	ISO	RGD:3187	D	RGD:9068941	20240420	RGD			PMID:32828943|REF_RGD_ID:405650202
8733413	Notch1	notch receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733413	Notch1	notch receptor 1	gene	DOID:9007102	Myocardial Ischemia	treatment	ISO	RGD:3187	D	RGD:9068941	20221104	RGD			PMID:32089723|REF_RGD_ID:155641250
8733413	Notch1	notch receptor 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:30394310
8733413	Notch1	notch receptor 1	gene	DOID:9007436	Hypertrophic Cicatrix	treatment	ISO	RGD:3187	D	RGD:9068941	20250306	RGD			PMID:34320121|REF_RGD_ID:597830078
8733413	Notch1	notch receptor 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22011395
8733413	Notch1	notch receptor 1	gene	DOID:9007736	Vertigo		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:18593716|PMID:20951801|PMID:20981092|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30582441
8733413	Notch1	notch receptor 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:18593716|PMID:20951801|PMID:20981092|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30582441
8733413	Notch1	notch receptor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8733413	Notch1	notch receptor 1	gene	DOID:9008189	Pyelectasis		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	
8733413	Notch1	notch receptor 1	gene	DOID:9008212	Diabetic Foot		ISO	RGD:737367	D	RGD:9068941	20221110	RGD		protein:increased expression:skin, epidermis:	PMID:30886104|REF_RGD_ID:155646129
8733413	Notch1	notch receptor 1	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:16025100|PMID:25132448|PMID:25741868
8733413	Notch1	notch receptor 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17849441
8733413	Notch1	notch receptor 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21036696|PMID:21679465
8733413	Notch1	notch receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532|PMID:33247628
8733413	Notch1	notch receptor 1	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastrointestinal hemorrhage	PMID:25741868|PMID:35186194|PMID:36866832
8733413	Notch1	notch receptor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8733413	Notch1	notch receptor 1	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	
8733413	Notch1	notch receptor 1	gene	DOID:9834	hyperopia		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25260786|PMID:25741868|PMID:26837699|PMID:28492532|PMID:31624253
8733413	Notch1	notch receptor 1	gene	DOID:987	alopecia		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alopecia	PMID:16025100|PMID:21457232|PMID:25132448|PMID:25741868|PMID:25963545|PMID:28492532|PMID:32720365|PMID:33630301
8733413	Notch1	notch receptor 1	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:737367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome | ClinVar Annotator: match by term: hypoplastic left heart syndrome	PMID:15472075|PMID:16025100|PMID:16199547|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21457232|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24728327|PMID:24943832|PMID:25132448|PMID:25741868|PMID:25963545|PMID:26837699|PMID:28492532|PMID:30511478|PMID:32720365|PMID:33630301
8733413	Notch1	notch receptor 1	gene	DOID:9970	obesity		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25260786|PMID:25741868|PMID:26837699|PMID:28492532|PMID:31624253
8733451	Tmem106b	transmembrane protein 106B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8733451	Tmem106b	transmembrane protein 106B	gene	DOID:0070405	hypomyelinating leukodystrophy 16		ISO	RGD:1603394	D	RGD:7240710	20190315	OMIM			
8733451	Tmem106b	transmembrane protein 106B	gene	DOID:0070405	hypomyelinating leukodystrophy 16		ISO	RGD:1603394	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 16 | ClinVar Annotator: match by term: TMEM106B-related condition	PMID:10338095|PMID:10737981|PMID:16941474|PMID:17309651|PMID:25741868|PMID:28492532|PMID:29186371|PMID:29194508|PMID:29444210|PMID:32572497|PMID:32595021|PMID:33597727
8733451	Tmem106b	transmembrane protein 106B	gene	DOID:0080600	COVID-19		ISO	RGD:1603394	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:33686287
8733451	Tmem106b	transmembrane protein 106B	gene	DOID:10534	stomach cancer		ISO	RGD:1603394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8733451	Tmem106b	transmembrane protein 106B	gene	DOID:1115	sarcoma		ISO	RGD:1603394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8733451	Tmem106b	transmembrane protein 106B	gene	DOID:3275	thymoma		ISO	RGD:1603394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8733451	Tmem106b	transmembrane protein 106B	gene	DOID:4362	cervical cancer		ISO	RGD:1603394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8733451	Tmem106b	transmembrane protein 106B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733451	Tmem106b	transmembrane protein 106B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8733451	Tmem106b	transmembrane protein 106B	gene	DOID:630	genetic disease		ISO	RGD:1603394	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8733451	Tmem106b	transmembrane protein 106B	gene	DOID:8725	vascular dementia		ISO	RGD:1603394	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:33268848
8733451	Tmem106b	transmembrane protein 106B	gene	DOID:9002031	Frontotemporal Lobar Degeneration		ISO	RGD:1603394	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20154673
8733451	Tmem106b	transmembrane protein 106B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733451	Tmem106b	transmembrane protein 106B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8733471	Mrpl43	mitochondrial ribosomal protein L43	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8733471	Mrpl43	mitochondrial ribosomal protein L43	gene	DOID:1324	lung cancer		ISO	RGD:1316878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8733471	Mrpl43	mitochondrial ribosomal protein L43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733480	Ucn2	urocortin 2	gene	DOID:0060180	colitis		ISO	RGD:620765	D	RGD:9068941	20200609	RGD		mRNA:increased expression:colon (rat)	PMID:17586086|REF_RGD_ID:5131259
8733480	Ucn2	urocortin 2	gene	DOID:10763	hypertension		ISO	RGD:1348669	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:19204182|REF_RGD_ID:5508437
8733480	Ucn2	urocortin 2	gene	DOID:1936	atherosclerosis		ISO	RGD:1348669	D	RGD:9068941	20200609	RGD		protein:increased expression:coronary artery, endothelium (human)	PMID:16026900|REF_RGD_ID:5508308
8733480	Ucn2	urocortin 2	gene	DOID:6000	congestive heart failure		ISO	RGD:1348669	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16330704
8733480	Ucn2	urocortin 2	gene	DOID:6000	congestive heart failure		ISO	RGD:1348669	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:myocardium (human)	PMID:12076554|REF_RGD_ID:5508210
8733480	Ucn2	urocortin 2	gene	DOID:9001109	Anorexia		ISO	RGD:1348669	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17627984
8733485	Lamp1	lysosomal associated membrane protein 1	gene	DOID:0040084	Streptococcus pneumonia		ISO	RGD:10855	D	RGD:9068941	20201117	RGD		protein:increased expression:lung, natural killer cell (mouse)	PMID:21887255|REF_RGD_ID:40818252
8733485	Lamp1	lysosomal associated membrane protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8733485	Lamp1	lysosomal associated membrane protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:737544	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8733485	Lamp1	lysosomal associated membrane protein 1	gene	DOID:1115	sarcoma		ISO	RGD:737544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8733485	Lamp1	lysosomal associated membrane protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8733485	Lamp1	lysosomal associated membrane protein 1	gene	DOID:3275	thymoma		ISO	RGD:737544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8733485	Lamp1	lysosomal associated membrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733485	Lamp1	lysosomal associated membrane protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:737544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8733485	Lamp1	lysosomal associated membrane protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733508	Meig1	meiosis/spermiogenesis associated 1	gene	DOID:3275	thymoma		ISO	RGD:1348116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8733508	Meig1	meiosis/spermiogenesis associated 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8733508	Meig1	meiosis/spermiogenesis associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733522	Ggt5	gamma-glutamyltransferase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8733522	Ggt5	gamma-glutamyltransferase 5	gene	DOID:1115	sarcoma		ISO	RGD:733414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8733522	Ggt5	gamma-glutamyltransferase 5	gene	DOID:1324	lung cancer		ISO	RGD:733414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8733522	Ggt5	gamma-glutamyltransferase 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8733522	Ggt5	gamma-glutamyltransferase 5	gene	DOID:4362	cervical cancer		ISO	RGD:733414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8733522	Ggt5	gamma-glutamyltransferase 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8733522	Ggt5	gamma-glutamyltransferase 5	gene	DOID:5041	esophageal cancer		ISO	RGD:733414	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8733522	Ggt5	gamma-glutamyltransferase 5	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:2684	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:9374738|REF_RGD_ID:69846
8733522	Ggt5	gamma-glutamyltransferase 5	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:733414	D	RGD:9068941	20241107	CTD		CTD Direct Evidence: marker/mechanism	PMID:9374738
8733522	Ggt5	gamma-glutamyltransferase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733522	Ggt5	gamma-glutamyltransferase 5	gene	DOID:9256	colorectal cancer		ISO	RGD:733414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8733552	St8sia4	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1603321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8733552	St8sia4	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	gene	DOID:1115	sarcoma		ISO	RGD:1603321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8733552	St8sia4	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1603321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8733552	St8sia4	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733552	St8sia4	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8733552	St8sia4	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8733552	St8sia4	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733552	St8sia4	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8733552	St8sia4	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8733562	LOC102009757	ubiquinol-cytochrome-c reductase complex assembly factor 2	gene	DOID:0080111	mitochondrial complex III deficiency nuclear type 1		ISO	RGD:1315803	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	
8733562	LOC102009757	ubiquinol-cytochrome-c reductase complex assembly factor 2	gene	DOID:0080116	mitochondrial complex III deficiency nuclear type 7		ISO	RGD:1315803	D	RGD:7240710	20180130	OMIM			
8733562	LOC102009757	ubiquinol-cytochrome-c reductase complex assembly factor 2	gene	DOID:0080116	mitochondrial complex III deficiency nuclear type 7		ISO	RGD:1315803	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 | ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 7	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:1318548	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL	PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|PMID:33471991
8733571	Stk11	serine/threonine kinase 11	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:0050787	juvenile polyposis syndrome		ISO	RGD:1318548	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome	PMID:25186627|PMID:25741868|PMID:26010451|PMID:26467025|PMID:26898890|PMID:27756406|PMID:28492532|PMID:30287823|PMID:30857943|PMID:31159747|PMID:31819097|PMID:32068069|PMID:32490123|PMID:33471991
8733571	Stk11	serine/threonine kinase 11	gene	DOID:0050787	juvenile polyposis syndrome		ISO	RGD:1318548	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome	PMID:25186627|PMID:25741868|PMID:26010451|PMID:26467025|PMID:26898890|PMID:27756406|PMID:28135145|PMID:28492532|PMID:30287823|PMID:30857943|PMID:31159747|PMID:31819097|PMID:32068069|PMID:32490123|PMID:33471991
8733571	Stk11	serine/threonine kinase 11	gene	DOID:0050787	juvenile polyposis syndrome		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome	PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|PMID:33471991
8733571	Stk11	serine/threonine kinase 11	gene	DOID:0050922	gastrointestinal carcinoma		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastrointestinal carcinoma	PMID:19892943|PMID:27821076|PMID:32462036
8733571	Stk11	serine/threonine kinase 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8733571	Stk11	serine/threonine kinase 11	gene	DOID:0080369	ovarian sex-cord stromal tumor		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian sex cord-stromal tumor	PMID:15188174|PMID:16287113|PMID:17404884|PMID:25741868|PMID:26467025|PMID:27993330|PMID:28492532|PMID:30134342|PMID:31591497|PMID:33534223|PMID:34386569|PMID:37334562|PMID:39169716|PMID:39225118|PMID:9428765|PMID:9887330
8733571	Stk11	serine/threonine kinase 11	gene	DOID:0080409	familial adenomatous polyposis 1		ISO	RGD:1318548	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Familial adenomatous polyposis 1	PMID:25741868
8733571	Stk11	serine/threonine kinase 11	gene	DOID:0080410	familial adenomatous polyposis 2		ISO	RGD:1318548	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis	PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|PMID:33471991
8733571	Stk11	serine/threonine kinase 11	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified	PMID:25741868|PMID:26080840|PMID:26295973|PMID:28492532|PMID:30287823|PMID:36243179
8733571	Stk11	serine/threonine kinase 11	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:10017	multiple endocrine neoplasia type 1		ISO	RGD:1318548	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Wermer syndrome	PMID:25741868|PMID:28492532|PMID:30287823|PMID:33471991
8733571	Stk11	serine/threonine kinase 11	gene	DOID:10041	dysplastic nevus syndrome		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: B-K MOLE SYNDROME	PMID:10780518|PMID:15800014|PMID:19340305|PMID:19892943|PMID:23555315|PMID:23718828|PMID:23893923|PMID:24652667|PMID:25186627|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26353884|PMID:26467025|PMID:26580448|PMID:27615706|PMID:27978560|PMID:28492532|PMID:28944238|PMID:29045518|PMID:29368341|PMID:30082870|PMID:30267214|PMID:30287823|PMID:30374176|PMID:31712642|PMID:32957588|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35171259|PMID:35264596
8733571	Stk11	serine/threonine kinase 11	gene	DOID:10154	small intestine cancer		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: small intestine cancer	PMID:26845104
8733571	Stk11	serine/threonine kinase 11	gene	DOID:10283	prostate cancer		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:25741868|PMID:28492532|PMID:34326862|PMID:34849607
8733571	Stk11	serine/threonine kinase 11	gene	DOID:10534	stomach cancer		ISO	RGD:1318548	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:36988593
8733571	Stk11	serine/threonine kinase 11	gene	DOID:10763	hypertension		ISO	RGD:1318548	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19289642
8733571	Stk11	serine/threonine kinase 11	gene	DOID:10808	gastric ulcer		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric ulcer	PMID:19892943|PMID:27821076|PMID:32462036
8733571	Stk11	serine/threonine kinase 11	gene	DOID:11830	myopia		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823|PMID:34326862|PMID:36243179
8733571	Stk11	serine/threonine kinase 11	gene	DOID:12176	goiter		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:12849	autistic disorder		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:1324	lung cancer		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8733571	Stk11	serine/threonine kinase 11	gene	DOID:1380	endometrial cancer		ISO	RGD:1318548	D	RGD:9068941	20200609	RGD			PMID:18245476|REF_RGD_ID:2291944
8733571	Stk11	serine/threonine kinase 11	gene	DOID:1380	endometrial cancer		ISO	RGD:1318549	D	RGD:9068941	20200609	RGD			PMID:18245476|REF_RGD_ID:2291944
8733571	Stk11	serine/threonine kinase 11	gene	DOID:1380	endometrial cancer		ISO	RGD:1318549	D	RGD:9068941	20220825	MouseDO		OMIM:608089	
8733571	Stk11	serine/threonine kinase 11	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:15188174|PMID:15863673|PMID:16110486|PMID:16287113|PMID:23612973|PMID:24604241|PMID:25741868|PMID:28492532|PMID:32462036|PMID:34849607|PMID:35101336|PMID:9760200
8733571	Stk11	serine/threonine kinase 11	gene	DOID:1520	colon carcinoma		ISO	RGD:1318548	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon	PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:1596	depressive disorder		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823|PMID:34326862|PMID:36243179
8733571	Stk11	serine/threonine kinase 11	gene	DOID:1612	breast cancer		ISO	RGD:1318548	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10429655|PMID:12533684|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17576681|PMID:17711506|PMID:20082862|PMID:20393878|PMID:20722467|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24728327|PMID:24793789|PMID:24830819|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28577310|PMID:28821472|PMID:28873162|PMID:30287823|PMID:9536098
8733571	Stk11	serine/threonine kinase 11	gene	DOID:1612	breast cancer		ISO	RGD:1318548	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10429655|PMID:12533684|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:20082862|PMID:20393878|PMID:20722467|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24728327|PMID:24793789|PMID:24830819|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28577310|PMID:28821472|PMID:28873162|PMID:30287823
8733571	Stk11	serine/threonine kinase 11	gene	DOID:1612	breast cancer		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast	PMID:17711506|PMID:24033266|PMID:24793789|PMID:25503501|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823|PMID:30833958
8733571	Stk11	serine/threonine kinase 11	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1318548	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
8733571	Stk11	serine/threonine kinase 11	gene	DOID:1793	pancreatic cancer		ISO	RGD:1318548	D	RGD:7240710	20180130	OMIM			
8733571	Stk11	serine/threonine kinase 11	gene	DOID:1891	optic nerve disease		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:1909	melanoma		ISO	RGD:1318548	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Melanoma	PMID:10201537|PMID:10208439|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24830819|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28821472|PMID:28873162|PMID:29458332
8733571	Stk11	serine/threonine kinase 11	gene	DOID:1909	melanoma		ISO	RGD:1318548	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Melanoma	PMID:10208439|PMID:10353780|PMID:15188174|PMID:16287113|PMID:17319781|PMID:20435009|PMID:25741868|PMID:26467025|PMID:27467201|PMID:28492532|PMID:9760200
8733571	Stk11	serine/threonine kinase 11	gene	DOID:1909	melanoma		ISO	RGD:1318548	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC | ClinVar Annotator: match by term: Melanoma	PMID:10780518|PMID:11668633|PMID:15188174|PMID:15800014|PMID:16287113|PMID:19340305|PMID:19892943|PMID:23555315|PMID:23612973|PMID:23718828|PMID:23893923|PMID:24652667|PMID:25186627|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26353884|PMID:26467025|PMID:26580448|PMID:27615706|PMID:27978560|PMID:28492532|PMID:28944238|PMID:29045518|PMID:29368341|PMID:30082870|PMID:30267214|PMID:30287823|PMID:30374176|PMID:31712642|PMID:32957588|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35101336|PMID:35171259|PMID:35264596
8733571	Stk11	serine/threonine kinase 11	gene	DOID:1924	hypogonadism		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:2030	anxiety disorder		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823|PMID:34326862|PMID:36243179
8733571	Stk11	serine/threonine kinase 11	gene	DOID:219	colon cancer		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:2394	ovarian cancer		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: familial ovarian cancer	PMID:10353780|PMID:15188174|PMID:16287113|PMID:17319781|PMID:20435009|PMID:24652667|PMID:25741868|PMID:26319365|PMID:26467025|PMID:26976419|PMID:27311873|PMID:27443514|PMID:28492532|PMID:30287823|PMID:32980694|PMID:33471991|PMID:34011629|PMID:35264596|PMID:9760200
8733571	Stk11	serine/threonine kinase 11	gene	DOID:2841	asthma		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823|PMID:34326862|PMID:36243179
8733571	Stk11	serine/threonine kinase 11	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1318548	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:299	adenocarcinoma		ISO	RGD:1318548	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17676035
8733571	Stk11	serine/threonine kinase 11	gene	DOID:2998	testicular cancer		ISO	RGD:1318548	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Malignant tumor of testis | ClinVar Annotator: match by term: Testicular cancer	PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|PMID:28869103|PMID:33471991
8733571	Stk11	serine/threonine kinase 11	gene	DOID:3125	multiple endocrine neoplasia		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Endocrine adenomatosis multiple	PMID:25741868|PMID:28492532|PMID:30287823|PMID:33471991
8733571	Stk11	serine/threonine kinase 11	gene	DOID:3275	thymoma		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8733571	Stk11	serine/threonine kinase 11	gene	DOID:3459	breast carcinoma		ISO	RGD:1318548	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast	PMID:10780518|PMID:15800014|PMID:19892943|PMID:23718828|PMID:25741868|PMID:25980754|PMID:26353884|PMID:26467025|PMID:26898890|PMID:28492532|PMID:29641532|PMID:31712642|PMID:32658311|PMID:34326862|PMID:34849607|PMID:39130150
8733571	Stk11	serine/threonine kinase 11	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1318548	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26887594
8733571	Stk11	serine/threonine kinase 11	gene	DOID:3701	cervical mucinous adenocarcinoma	disease_progression	ISO	RGD:1318548	D	RGD:9068941	20200609	RGD		DNA:mutations	PMID:12533684|REF_RGD_ID:2291947
8733571	Stk11	serine/threonine kinase 11	gene	DOID:3852	Peutz-Jeghers syndrome		ISO	RGD:1318548	D	RGD:7240710	20180130	OMIM			
8733571	Stk11	serine/threonine kinase 11	gene	DOID:3852	Peutz-Jeghers syndrome		ISO	RGD:1318548	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Lentiginosis, perioral | ClinVar Annotator: match by term: Peutz-Jeghers syndrome	PMID:10208439|PMID:10217080|PMID:10353780|PMID:10362809|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11103790|PMID:11297520|PMID:11389158|PMID:11430832|PMID:11668633|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12829253|PMID:12865922|PMID:14623934|PMID:14970844|PMID:15121768|PMID:15188174|PMID:15200509|PMID:15399020|PMID:15561763|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16648371|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18594528|PMID:18687677|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19250387|PMID:19340305|PMID:19727776|PMID:19763152|PMID:19892943|PMID:19908348|PMID:20082862|PMID:20223037|PMID:20307669|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20623358|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:21411391|PMID:21816872|PMID:22382802|PMID:22406018|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22775437|PMID:22942091|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23426006|PMID:23515270|PMID:23527983|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24054548|PMID:24260271|PMID:24295069|PMID:24304607|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24949325|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25841653|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26625312|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27060149|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27550049|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27721366|PMID:27756406|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28231849|PMID:28303455|PMID:28391433|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29419869|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29685139|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30334930|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30857943|PMID:30883245|PMID:30885352|PMID:30982232|PMID:30997075|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31217475|PMID:31269945|PMID:31383922|PMID:31422818|PMID:31465090|PMID:31469826|PMID:31515776|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31819097|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32489267|PMID:32490123|PMID:32508039|PMID:32566746|PMID:32573125|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33020649|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34761457|PMID:34849607|PMID:35171259|PMID:35189935|PMID:35264596|PMID:35467778|PMID:36243179|PMID:36315513|PMID:36988593|PMID:37323311
8733571	Stk11	serine/threonine kinase 11	gene	DOID:3852	Peutz-Jeghers syndrome		ISO	RGD:1318548	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Lentiginosis, perioral | ClinVar Annotator: match by term: Peutz-Jeghers syndrome	PMID:37377590|PMID:9399902|PMID:9425897|PMID:9428765|PMID:9536098|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9934767
8733571	Stk11	serine/threonine kinase 11	gene	DOID:3852	Peutz-Jeghers syndrome		ISO	RGD:1318548	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Periorificial lentiginosis syndrome | ClinVar Annotator: match by term: Peutz-Jeghers syndrome	PMID:34761457|PMID:34849607|PMID:35171259|PMID:35189935|PMID:35224145|PMID:35264596|PMID:35430768|PMID:35467778|PMID:35534704|PMID:35980532|PMID:36243179|PMID:36315513|PMID:36578081|PMID:36988593|PMID:37017260|PMID:37323311|PMID:37377590|PMID:37937776|PMID:38028594|PMID:38136308|PMID:9399902|PMID:9425897|PMID:9428765|PMID:9536098|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9934767
8733571	Stk11	serine/threonine kinase 11	gene	DOID:3852	Peutz-Jeghers syndrome		ISO	RGD:1318548	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PEUTZ-JEGHERS SYNDROME | ClinVar Annotator: match by term: Periorificial lentiginosis syndrome | ClinVar Annotator: match by term: Peutz Jeghers Syndrome | ClinVar Annotator: match by term: Peutz-Jeghers syndrome | ClinVar Annotator: match by term: Peutz-jeghers syndrome	PMID:10207048|PMID:10353780|PMID:10362809|PMID:10408777|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11|PMID:11389158|PMID:12372054|PMID:12552571|PMID:12829253|PMID:12865922|PMID:14623934|PMID:14970844|PMID:15121768|PMID:15188174|PMID:15200509|PMID:15561763|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16648371|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17124587|PMID:17404884|PMID:17576681|PMID:17711506|PMID:17924967|PMID:19250387|PMID:19340305|PMID:19727776|PMID:19763152|PMID:19892943|PMID:19908348|PMID:20307669|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20616022|PMID:20623358|PMID:21118512|PMID:21411391|PMID:21520333|PMID:22382802|PMID:22406018|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22775437|PMID:22942091|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23426006|PMID:23430953|PMID:23515270|PMID:23527983|PMID:23555315|PMID:23584481|PMID:23612973|PMID:23672593|PMID:23718779|PMID:23718828|PMID:23892522|PMID:23893923|PMID:24033266|PMID:24037887|PMID:24054548|PMID:24260271|PMID:24295069|PMID:24304607|PMID:24556621|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24949325|PMID:24998845|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25778705|PMID:25841653|PMID:25980754|PMID:26010451|PMID:26225618|PMID:26319365|PMID:26353884|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26580448|PMID:26607058|PMID:26625312|PMID:26976419|PMID:26979979|PMID:27060149|PMID:27311873|PMID:27615706|PMID:27721366|PMID:27821076|PMID:27978560|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28231849|PMID:28303455|PMID:28391433|PMID:28492532|PMID:28560011|PMID:28580595|PMID:28724667|PMID:28767289|PMID:28869103|PMID:28873162|PMID:28944238|PMID:29045518|PMID:29192238|PMID:29310834|PMID:29368341|PMID:29399144|PMID:29419869|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29685139|PMID:30082870|PMID:30092773|PMID:30134342|PMID:30267214|PMID:30287823|PMID:30334930|PMID:30374176|PMID:30528796|PMID:30689838|PMID:30833958|PMID:30850667|PMID:30888642|PMID:30997075|PMID:31383922|PMID:31422818|PMID:31469826|PMID:31515776|PMID:31591497|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31852928|PMID:31871109|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32573125|PMID:32658311|PMID:32957588|PMID:32980694|PMID:33471991|PMID:33534223|PMID:34011629|PMID:34326862|PMID:34386569|PMID:34754157|PMID:34849607|PMID:35101336|PMID:35171259|PMID:35189935|PMID:35264596|PMID:35467778|PMID:36072793|PMID:36243179|PMID:36550395|PMID:36977404|PMID:37017260|PMID:37334562|PMID:37377590|PMID:38028594|PMID:38136308|PMID:38981878|PMID:39115133|PMID:39169716|PMID:39225118|PMID:4103092|PMID:837816|PMID:85|PMID:9399902|PMID:9425897|PMID:9428765|PMID:9536098|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9934767
8733571	Stk11	serine/threonine kinase 11	gene	DOID:3852	Peutz-Jeghers syndrome		ISO	RGD:1318548	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PEUTZ-JEGHERS SYNDROME | ClinVar Annotator: match by term: Periorificial lentiginosis syndrome | ClinVar Annotator: match by term: Peutz Jeghers Syndrome | ClinVar Annotator: match by term: Peutz-Jeghers syndrome | ClinVar Annotator: match by term: Peutz-jeghers syndrome	PMID:10207048|PMID:10353780|PMID:10362809|PMID:10408777|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11|PMID:11389158|PMID:12372054|PMID:12552571|PMID:12829253|PMID:12865922|PMID:14970844|PMID:15121768|PMID:15188174|PMID:15200509|PMID:15561763|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16648371|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17124587|PMID:17404884|PMID:17576681|PMID:17711506|PMID:17924967|PMID:19250387|PMID:19340305|PMID:19727776|PMID:19763152|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20307669|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20616022|PMID:20623358|PMID:21118512|PMID:21411391|PMID:21520333|PMID:22382802|PMID:22406018|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22775437|PMID:22942091|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23426006|PMID:23430953|PMID:23515270|PMID:23527983|PMID:23555315|PMID:23584481|PMID:23612973|PMID:23672593|PMID:23718779|PMID:23718828|PMID:23892522|PMID:23893923|PMID:24033266|PMID:24037887|PMID:24054548|PMID:24260271|PMID:24295069|PMID:24304607|PMID:24556621|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24949325|PMID:24998845|PMID:25186627|PMID:25226294|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25778705|PMID:25841653|PMID:25980754|PMID:26010451|PMID:26225618|PMID:26319365|PMID:26353884|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26580448|PMID:26607058|PMID:26625312|PMID:26898890|PMID:26976419|PMID:26979979|PMID:27060149|PMID:27311873|PMID:27615706|PMID:27721366|PMID:27821076|PMID:27978560|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28231849|PMID:28303455|PMID:28391433|PMID:28492532|PMID:28560011|PMID:28580595|PMID:28724667|PMID:28767289|PMID:28869103|PMID:28873162|PMID:28944238|PMID:29045518|PMID:29192238|PMID:29310834|PMID:29368341|PMID:29399144|PMID:29419869|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29685139|PMID:30082870|PMID:30092773|PMID:30134342|PMID:30267214|PMID:30287823|PMID:30334930|PMID:30374176|PMID:30528796|PMID:30689838|PMID:30833958|PMID:30850667|PMID:30888642|PMID:30997075|PMID:31383922|PMID:31422818|PMID:31469826|PMID:31515776|PMID:31591497|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31852928|PMID:31871109|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32573125|PMID:32658311|PMID:32957588|PMID:32980694|PMID:33471991|PMID:33534223|PMID:34011629|PMID:34326862|PMID:34386569|PMID:34754157|PMID:34849607|PMID:35101336|PMID:35171259|PMID:35189935|PMID:35264596|PMID:35467778|PMID:36072793|PMID:36243179|PMID:36550395|PMID:36977404|PMID:36988593|PMID:37017260|PMID:37334562|PMID:37377590|PMID:38028594|PMID:38136308|PMID:38981878|PMID:39115133|PMID:39130150|PMID:39169716|PMID:39225118|PMID:4103092|PMID:837816|PMID:85|PMID:9399902|PMID:9425897|PMID:9428765|PMID:9536098|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9934767
8733571	Stk11	serine/threonine kinase 11	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318548	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:15800014|PMID:17676035|PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous Cell Lung Carcinoma	PMID:25741868
8733571	Stk11	serine/threonine kinase 11	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1318548	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
8733571	Stk11	serine/threonine kinase 11	gene	DOID:4001	ovarian carcinoma	susceptibility	ISO	RGD:1318548	D	RGD:9068941	20200609	RGD		DNA:loss of heterozygosity, missense mutation:p.P281L	PMID:10429654|REF_RGD_ID:2298556
8733571	Stk11	serine/threonine kinase 11	gene	DOID:480	movement disease		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:4905	pancreatic carcinoma		ISO	RGD:1318548	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA	PMID:15188174|PMID:16287113|PMID:19340305|PMID:23555315|PMID:23893923|PMID:24652667|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26467025|PMID:27615706|PMID:28135145|PMID:28492532|PMID:30374176|PMID:30528796|PMID:33471991
8733571	Stk11	serine/threonine kinase 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1318548	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8733571	Stk11	serine/threonine kinase 11	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:19340305|PMID:23555315|PMID:23893923|PMID:24652667|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26467025|PMID:27615706|PMID:28135145|PMID:28492532|PMID:30082870|PMID:30267214|PMID:30287823|PMID:30374176|PMID:32957588|PMID:33471991
8733571	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:24033266|PMID:24307375|PMID:24728327|PMID:24857785|PMID:25157968|PMID:25343854|PMID:25741868|PMID:26010451|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:28135145|PMID:28492532|PMID:28577310|PMID:28873162|PMID:28977883|PMID:30287823|PMID:30982232|PMID:32566746
8733571	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30982232|PMID:31269945|PMID:32566746|PMID:33471991
8733571	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30982232|PMID:31269945|PMID:32566746|PMID:33471991|PMID:34849607
8733571	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30982232|PMID:31269945|PMID:32566746|PMID:33471991|PMID:34849607|PMID:35171259|PMID:36243179
8733571	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30982232|PMID:31269945|PMID:32566746|PMID:33471991|PMID:34439939|PMID:34849607|PMID:35171259|PMID:36243179
8733571	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30982232|PMID:31269945|PMID:32566746|PMID:33471991|PMID:34326862|PMID:34439939|PMID:34849607|PMID:35171259|PMID:36243179
8733571	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30455982|PMID:30982232|PMID:31269945|PMID:31871109|PMID:32566746|PMID:33471991|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34849607|PMID:35171259|PMID:36243179
8733571	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30455982|PMID:30982232|PMID:31269945|PMID:31871109|PMID:32566746|PMID:33471991|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34849607|PMID:35171259|PMID:35534704|PMID:36243179
8733571	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30455982|PMID:30982232|PMID:31269945|PMID:31871109|PMID:32566746|PMID:33471991|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34849607|PMID:35171259|PMID:35264596|PMID:35534704|PMID:36243179
8733571	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30982232|PMID:31269945|PMID:31871109|PMID:32566746|PMID:33471991|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34849607|PMID:35171259|PMID:35264596|PMID:35534704|PMID:36243179|PMID:37937776
8733571	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:27756406|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30857943|PMID:30982232|PMID:31269945|PMID:31819097|PMID:31871109|PMID:32490123|PMID:32566746|PMID:33471991|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34849607|PMID:35171259|PMID:35264596|PMID:35534704|PMID:36243179|PMID:37937776
8733571	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:27756406|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30857943|PMID:30982232|PMID:31269945|PMID:31819097|PMID:31871109|PMID:32490123|PMID:32566746|PMID:33471991|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34849607|PMID:35171259|PMID:35534704|PMID:36243179|PMID:37937776
8733571	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:17711506|PMID:18594528|PMID:19892943|PMID:21191700|PMID:23555315|PMID:24307375|PMID:24857785|PMID:25343854|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:28492532|PMID:28977883|PMID:30287823|PMID:30476936|PMID:30982232|PMID:31871109|PMID:32566746|PMID:32658311|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35171259|PMID:35218119|PMID:35264596|PMID:36243179|PMID:36977404
8733571	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:17711506|PMID:18594528|PMID:19892943|PMID:21191700|PMID:23555315|PMID:24307375|PMID:24857785|PMID:25343854|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:28492532|PMID:28977883|PMID:30287823|PMID:30476936|PMID:30982232|PMID:31871109|PMID:32658311|PMID:33471991|PMID:34849607|PMID:35171259|PMID:35218119|PMID:35264596|PMID:36243179|PMID:36977404
8733571	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11430832|PMID:24307375|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26467025|PMID:28492532|PMID:30287823|PMID:30476936|PMID:30982232|PMID:31871109|PMID:32658311|PMID:33471991|PMID:34849607|PMID:35171259|PMID:35218119|PMID:35264596|PMID:36243179|PMID:36977404
8733571	Stk11	serine/threonine kinase 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733571	Stk11	serine/threonine kinase 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8733571	Stk11	serine/threonine kinase 11	gene	DOID:6225	Cronkhite-Canada syndrome		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intestinal polyposis	PMID:25741868|PMID:28492532|PMID:30287823|PMID:32980694
8733571	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:7240710	20240221	OMIM			
8733571	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20240220	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10	PMID:10201537|PMID:10208439|PMID:10676634|PMID:11668633|PMID:15188174|PMID:16287113|PMID:16407837|PMID:17576681|PMID:19892943|PMID:23399955|PMID:25157968|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26928227|PMID:26979979|PMID:27467201|PMID:28492532|PMID:28944238|PMID:29045518|PMID:30093976|PMID:30287823|PMID:30885352|PMID:32647375|PMID:33020649|PMID:33471991|PMID:34849607|PMID:9536098|PMID:9887330
8733571	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10	PMID:10201537|PMID:10208439|PMID:10676634|PMID:11668633|PMID:15188174|PMID:16287113|PMID:16407837|PMID:17576681|PMID:19892943|PMID:23399955|PMID:25157968|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26928227|PMID:26979979|PMID:27467201|PMID:28492532|PMID:28944238|PMID:29045518|PMID:30093976|PMID:30287823|PMID:30885352|PMID:32647375|PMID:33020649|PMID:33471991|PMID:34849607|PMID:35264596|PMID:9536098|PMID:9887330
8733571	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10	PMID:10201537|PMID:10208439|PMID:10676634|PMID:11668633|PMID:15188174|PMID:16287113|PMID:16407837|PMID:17576681|PMID:19892943|PMID:23399955|PMID:25157968|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26928227|PMID:26979979|PMID:27467201|PMID:28492532|PMID:28944238|PMID:29045518|PMID:30093976|PMID:30287823|PMID:30885352|PMID:32647375|PMID:33020649|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35264596|PMID:9536098|PMID:9887330
8733571	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10	PMID:10201537|PMID:10208439|PMID:10676634|PMID:11668633|PMID:15188174|PMID:16287113|PMID:16407837|PMID:17576681|PMID:19892943|PMID:23399955|PMID:25157968|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26928227|PMID:26979979|PMID:27467201|PMID:28492532|PMID:28944238|PMID:29045518|PMID:30093976|PMID:30287823|PMID:30885352|PMID:33020649|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35264596|PMID:9536098|PMID:9887330
8733571	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3	PMID:10201537|PMID:10208439|PMID:10676634|PMID:10780518|PMID:11668633|PMID:15188174|PMID:15800014|PMID:16287113|PMID:16407837|PMID:17576681|PMID:19892943|PMID:23399955|PMID:25157968|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26580448|PMID:26928227|PMID:26979979|PMID:27467201|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28944238|PMID:29045518|PMID:29368341|PMID:30093976|PMID:30287823|PMID:30885352|PMID:31159747|PMID:31742824|PMID:32658311|PMID:33020649|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35264596|PMID:9536098|PMID:9887330
8733571	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10	PMID:10201537|PMID:10208439|PMID:10676634|PMID:10780518|PMID:11668633|PMID:15188174|PMID:15800014|PMID:16287113|PMID:16407837|PMID:17576681|PMID:19892943|PMID:23399955|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26580448|PMID:26928227|PMID:26979979|PMID:27467201|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28944238|PMID:29045518|PMID:29368341|PMID:30093976|PMID:30287823|PMID:30885352|PMID:31159747|PMID:31742824|PMID:32658311|PMID:33020649|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35264596|PMID:9536098|PMID:9887330
8733571	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3	PMID:10201537|PMID:10208439|PMID:10676634|PMID:10780518|PMID:11668633|PMID:15188174|PMID:15800014|PMID:16287113|PMID:16407837|PMID:17576681|PMID:19892943|PMID:23399955|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26580448|PMID:26928227|PMID:26979979|PMID:27467201|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28944238|PMID:29045518|PMID:29368341|PMID:30093976|PMID:30287823|PMID:30885352|PMID:31159747|PMID:31742824|PMID:32658311|PMID:33020649|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35264596|PMID:36243179|PMID:37017260|PMID:9536098|PMID:9887330
8733571	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10	PMID:10201537|PMID:10208439|PMID:10676634|PMID:10780518|PMID:11668633|PMID:15188174|PMID:15800014|PMID:16287113|PMID:16407837|PMID:17576681|PMID:19892943|PMID:23399955|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26580448|PMID:26928227|PMID:26979979|PMID:27467201|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28944238|PMID:29045518|PMID:29368341|PMID:30093976|PMID:30287823|PMID:30885352|PMID:31159747|PMID:31422574|PMID:31712642|PMID:31742824|PMID:32658311|PMID:33020649|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35264596|PMID:36243179|PMID:37017260|PMID:9536098|PMID:9887330
8733571	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:10201537|PMID:10208439|PMID:10676634|PMID:10780518|PMID:11668633|PMID:12552571|PMID:15188174|PMID:15800014|PMID:16287113|PMID:16407837|PMID:17404884|PMID:17576681|PMID:19340305|PMID:19892943|PMID:23399955|PMID:23555315|PMID:23893923|PMID:24652667|PMID:25186627|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26580448|PMID:26928227|PMID:26979979|PMID:27467201|PMID:27615706|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28944238|PMID:29045518|PMID:29368341|PMID:30093976|PMID:30287823|PMID:30374176|PMID:30885352|PMID:31159747|PMID:31422574|PMID:31712642|PMID:31742824|PMID:32658311|PMID:33020649|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35264596|PMID:36243179|PMID:37017260|PMID:9536098|PMID:9887330
8733571	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3	PMID:10201537|PMID:10208439|PMID:10676634|PMID:10780518|PMID:11668633|PMID:12552571|PMID:15188174|PMID:15800014|PMID:16287113|PMID:16407837|PMID:17404884|PMID:19340305|PMID:19892943|PMID:23399955|PMID:23555315|PMID:23893923|PMID:24652667|PMID:25186627|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26580448|PMID:26928227|PMID:26979979|PMID:27467201|PMID:27615706|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28944238|PMID:29368341|PMID:30093976|PMID:30287823|PMID:30374176|PMID:30885352|PMID:31159747|PMID:31422574|PMID:31712642|PMID:32658311|PMID:33020649|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35264596|PMID:36243179|PMID:37017260|PMID:9887330
8733571	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1	PMID:10780518|PMID:15800014|PMID:19340305|PMID:19892943|PMID:23555315|PMID:23718828|PMID:23893923|PMID:24652667|PMID:25186627|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26353884|PMID:26467025|PMID:26580448|PMID:27615706|PMID:27978560|PMID:28492532|PMID:28944238|PMID:29045518|PMID:29368341|PMID:30082870|PMID:30267214|PMID:30287823|PMID:30374176|PMID:31712642|PMID:32957588|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35171259|PMID:35264596
8733571	Stk11	serine/threonine kinase 11	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:7998	hyperthyroidism		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823|PMID:34326862|PMID:36243179
8733571	Stk11	serine/threonine kinase 11	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:1318549	D	RGD:9068941	20200609	RGD			PMID:18381428|REF_RGD_ID:2291943
8733571	Stk11	serine/threonine kinase 11	gene	DOID:8923	skin melanoma		ISO	RGD:1318548	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY	PMID:10201537|PMID:10208439|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24830819|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28821472|PMID:28873162|PMID:29458332
8733571	Stk11	serine/threonine kinase 11	gene	DOID:8923	skin melanoma		ISO	RGD:1318548	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY	PMID:25741868|PMID:26467025|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:8923	skin melanoma		ISO	RGD:1318548	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:10780518|PMID:15800014|PMID:19340305|PMID:19892943|PMID:23555315|PMID:23718828|PMID:23893923|PMID:24652667|PMID:25186627|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26353884|PMID:26467025|PMID:26580448|PMID:27467201|PMID:27615706|PMID:27978560|PMID:28492532|PMID:28944238|PMID:29045518|PMID:29368341|PMID:30082870|PMID:30267214|PMID:30287823|PMID:30374176|PMID:31712642|PMID:32957588|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35171259|PMID:35264596
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1318548	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;protein:decreased expression	PMID:12114407|REF_RGD_ID:2291948
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9000727	Syncope		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9001733	Tinnitus		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian neoplasm	PMID:25741868|PMID:26467025|PMID:28492532|PMID:31383922|PMID:31469826|PMID:31592449
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9003507	Premature Birth		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823|PMID:34326862|PMID:36243179
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1318548	D	RGD:7240710	20180130	OMIM			
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis | ClinVar Annotator: match by term: Testicular germ cell tumor	PMID:19340305|PMID:23555315|PMID:23893923|PMID:24652667|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26467025|PMID:27615706|PMID:28135145|PMID:28492532|PMID:30082870|PMID:30267214|PMID:30287823|PMID:30374176|PMID:32957588|PMID:33471991
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1318549	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart	PMID:17098823|REF_RGD_ID:1601391
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9003987	Gastric Polyposis		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric polyposis	PMID:19892943|PMID:27821076|PMID:32462036
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:14970844|PMID:16287113|PMID:16582077|PMID:16775120|PMID:19340305|PMID:20393878|PMID:20623358|PMID:21118512|PMID:22775437|PMID:23399955|PMID:23555315|PMID:23893923|PMID:24604241|PMID:24652667|PMID:25186627|PMID:25741868|PMID:25841653|PMID:25980754|PMID:26467025|PMID:27615706|PMID:28135145|PMID:28492532|PMID:30082870|PMID:30267214|PMID:30287823|PMID:30374176|PMID:32957588|PMID:33471991|PMID:35224145
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1318548	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19289642
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9005077	Joint Instability		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1318548	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17676035
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1318548	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868|PMID:28492532|PMID:29419869|PMID:30334930
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17404884|PMID:17576681|PMID:17676035|PMID:17711506|PMID:18321849|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28640387|PMID:28724667|PMID:28767289|PMID:28821472|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29641532|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30455982|PMID:30528796|PMID:30669267|PMID:30982232|PMID:31159747|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31592449|PMID:31712642|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32566746|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31217475|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32957588|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34849607|PMID:35467778|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31217475|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34284872|PMID:34849607|PMID:35467778|PMID:36988593|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31217475|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34284872|PMID:34849607|PMID:35467778|PMID:36315513|PMID:36988593|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31206626|PMID:31217475|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34284872|PMID:34849607|PMID:35467778|PMID:36243179|PMID:36315513|PMID:36988593|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31206626|PMID:31217475|PMID:31269945|PMID:31383922|PMID:31422818|PMID:31465090|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34103092|PMID:34284872|PMID:34849607|PMID:35264596|PMID:35467778|PMID:36243179|PMID:36315513|PMID:36988593|PMID:37377590|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27756406|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30857943|PMID:30883245|PMID:30885352|PMID:30982232|PMID:31159747|PMID:31206626|PMID:31217475|PMID:31269945|PMID:31383922|PMID:31422818|PMID:31465090|PMID:31469826|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31819097|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32490123|PMID:32508039|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33020649|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34103092|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34761457|PMID:34849607|PMID:35171259|PMID:35264596|PMID:35467778|PMID:36243179|PMID:36315513|PMID:36988593|PMID:37377590|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15561763|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27060149|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27756406|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30857943|PMID:30883245|PMID:30885352|PMID:30982232|PMID:31068090|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31217475|PMID:31269945|PMID:31383922|PMID:31422818|PMID:31465090|PMID:31469826|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31819097|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32489267|PMID:32490123|PMID:32508039|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33020649|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34103092|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34761457|PMID:34849607|PMID:35171259|PMID:35264596|PMID:35467778|PMID:35534704|PMID:36243179|PMID:36315513|PMID:36578081|PMID:36988593|PMID:37323311|PMID:37377590|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15561763|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27060149|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27756406|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30857943|PMID:30883245|PMID:30885352|PMID:30982232|PMID:31068090|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31217475|PMID:31269945|PMID:31383922|PMID:31422818|PMID:31465090|PMID:31469826|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31819097|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32489267|PMID:32490123|PMID:32508039|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33020649|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34103092|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34754157|PMID:34761457|PMID:34849607|PMID:35171259|PMID:35264596|PMID:35467778|PMID:35534704|PMID:36243179|PMID:36315513|PMID:36578081|PMID:36988593|PMID:37323311|PMID:37377590|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15561763|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27060149|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27756406|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30857943|PMID:30883245|PMID:30885352|PMID:30982232|PMID:31068090|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31217475|PMID:31269945|PMID:31383922|PMID:31422818|PMID:31465090|PMID:31469826|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31819097|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32489267|PMID:32490123|PMID:32504210|PMID:32508039|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33020649|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:33528079|PMID:34011629|PMID:34103092|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34754157|PMID:34761457|PMID:34849607|PMID:35171259|PMID:35264596|PMID:35430768|PMID:35467778|PMID:35534704|PMID:36243179|PMID:36315513|PMID:36578081|PMID:36988593|PMID:37323311|PMID:37377590|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15561763|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27060149|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27697855|PMID:27756406|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30082870|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30857943|PMID:30883245|PMID:30885352|PMID:30982232|PMID:31068090|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31217475|PMID:31269945|PMID:31383922|PMID:31422818|PMID:31465090|PMID:31469826|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31819097|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32489267|PMID:32490123|PMID:32504210|PMID:32508039|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33020649|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:33528079|PMID:34011629|PMID:34103092|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34754157|PMID:34761457|PMID:34849607|PMID:35171259|PMID:35264596|PMID:35430768|PMID:35467778|PMID:35534704|PMID:35980532|PMID:36243179|PMID:36315513|PMID:36578081|PMID:36988593|PMID:37017260|PMID:37323311|PMID:37377590|PMID:37937776|PMID:38028594|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15561763|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22775437|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23426006|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24054548|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27060149|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27697855|PMID:27756406|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30082870|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30334930|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30857943|PMID:30883245|PMID:30885352|PMID:30982232|PMID:30997075|PMID:31068090|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31217475|PMID:31269945|PMID:31383922|PMID:31422574|PMID:31422818|PMID:31469826|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31819097|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32489267|PMID:32490123|PMID:32504210|PMID:32508039|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33020649|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:33528079|PMID:34011629|PMID:34103092|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34471991|PMID:34754157|PMID:34761457|PMID:34849607|PMID:35171259|PMID:35224145|PMID:35264596|PMID:35430768|PMID:35467778|PMID:35534704|PMID:35980532|PMID:36243179|PMID:36315513|PMID:36578081|PMID:36988593|PMID:37017260|PMID:37323311|PMID:37377590|PMID:37937776|PMID:38028594|PMID:38136308|PMID:9399902|PMID:9425897|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:9887330|PMID:9908348|PMID:9934767
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10207048|PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15561763|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22775437|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23426006|PMID:23430953|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24054548|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24556621|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26225618|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27060149|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27697855|PMID:27756406|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29192238|PMID:29310834|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30082870|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30334930|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30528796|PMID:30594553|PMID:30689838|PMID:30833958|PMID:30857943|PMID:30885352|PMID:30982232|PMID:30997075|PMID:31068090|PMID:31159747|PMID:31206626|PMID:31217475|PMID:31269945|PMID:31383922|PMID:31422574|PMID:31422818|PMID:31469826|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31819097|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32489267|PMID:32490123|PMID:32504210|PMID:32508039|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33020649|PMID:33309985|PMID:33471991|PMID:33528079|PMID:34103092|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34754157|PMID:34761457|PMID:34849607|PMID:35171259|PMID:35224145|PMID:35264596|PMID:35430768|PMID:35467778|PMID:35534704|PMID:35980532|PMID:36243179|PMID:36315513|PMID:36578081|PMID:37017260|PMID:37323311|PMID:37377590|PMID:37937776|PMID:38136308|PMID:9399902|PMID:9425897|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10207048|PMID:10208439|PMID:10353780|PMID:10362809|PMID:10408777|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11389158|PMID:12112668|PMID:12372054|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15561763|PMID:15608654|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18495044|PMID:18687677|PMID:18846624|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20497868|PMID:20559149|PMID:21118512|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22775437|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23430953|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23718828|PMID:23893923|PMID:24033266|PMID:24037887|PMID:24054548|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24998845|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26225618|PMID:26319365|PMID:26353884|PMID:26430231|PMID:26467025|PMID:26580448|PMID:26607058|PMID:26976419|PMID:26979979|PMID:27060149|PMID:27081308|PMID:27311873|PMID:27467201|PMID:27615706|PMID:27696107|PMID:27821076|PMID:27978560|PMID:27993330|PMID:28135145|PMID:28185117|PMID:28492532|PMID:28560011|PMID:28580595|PMID:28724667|PMID:28869103|PMID:28873162|PMID:28944238|PMID:29045518|PMID:29310834|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:30082870|PMID:30092773|PMID:30093976|PMID:30134342|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30334930|PMID:30374176|PMID:30528796|PMID:30594553|PMID:30833958|PMID:30850667|PMID:30997075|PMID:31068090|PMID:31159747|PMID:31217475|PMID:31383922|PMID:31422574|PMID:31469826|PMID:31554794|PMID:31591497|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31871109|PMID:32068069|PMID:32459922|PMID:32462036|PMID:32647375|PMID:32658311|PMID:32957588|PMID:32980694|PMID:33471991|PMID:33534223|PMID:34011629|PMID:34103092|PMID:34326862|PMID:34386569|PMID:34439939|PMID:34754157|PMID:34849607|PMID:35101336|PMID:35171259|PMID:35218119|PMID:35264596|PMID:36072793|PMID:36243179|PMID:36578081|PMID:36977404|PMID:37017260|PMID:37334562|PMID:37377590|PMID:38660671|PMID:38981878|PMID:39169716|PMID:39225118|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10207048|PMID:10353780|PMID:10362809|PMID:10408777|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11389158|PMID:12112668|PMID:12372054|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15561763|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18495044|PMID:18687677|PMID:18846624|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:20497868|PMID:20559149|PMID:21118512|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22775437|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23430953|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23718828|PMID:23893923|PMID:24033266|PMID:24037887|PMID:24054548|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24998845|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26225618|PMID:26319365|PMID:26353884|PMID:26430231|PMID:26467025|PMID:26580448|PMID:26607058|PMID:26898890|PMID:26976419|PMID:26979979|PMID:27060149|PMID:27081308|PMID:27311873|PMID:27467201|PMID:27615706|PMID:27696107|PMID:27821076|PMID:27978560|PMID:27993330|PMID:28135145|PMID:28185117|PMID:28492532|PMID:28560011|PMID:28580595|PMID:28724667|PMID:28869103|PMID:28873162|PMID:28944238|PMID:29045518|PMID:29310834|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:30082870|PMID:30092773|PMID:30093976|PMID:30134342|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30334930|PMID:30374176|PMID:30528796|PMID:30594553|PMID:30833958|PMID:30850667|PMID:30997075|PMID:31159747|PMID:31217475|PMID:31383922|PMID:31422574|PMID:31469826|PMID:31554794|PMID:31591497|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31871109|PMID:32068069|PMID:32459922|PMID:32462036|PMID:32647375|PMID:32658311|PMID:32957588|PMID:32980694|PMID:33471991|PMID:33534223|PMID:34011629|PMID:34103092|PMID:34326862|PMID:34386569|PMID:34439939|PMID:34754157|PMID:34849607|PMID:35101336|PMID:35171259|PMID:35218119|PMID:35264596|PMID:36072793|PMID:36243179|PMID:36578081|PMID:36977404|PMID:37017260|PMID:37334562|PMID:37377590|PMID:38660671|PMID:38981878|PMID:39130150|PMID:39169716|PMID:39225118|PMID:9428765|PMID:9536098|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9007661	Dwarfism		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1308653	D	RGD:9068941	20200609	RGD		associated with obesity;protein:decreased expression:gastrocnemius	PMID:16352671|REF_RGD_ID:1601389
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9007736	Vertigo		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9008023	Memory Disorders		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9409	diabetes insipidus		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9834	hyperopia		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
8733571	Stk11	serine/threonine kinase 11	gene	DOID:9970	obesity		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
8733592	Rdh11	retinol dehydrogenase 11	gene	DOID:9000849	Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome		ISO	RGD:1323753	D	RGD:7240710	20180130	OMIM			
8733606	Hmcn1	hemicentin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8733606	Hmcn1	hemicentin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8733606	Hmcn1	hemicentin 1	gene	DOID:0110014	age related macular degeneration 1		ISO	RGD:1605323	D	RGD:7240710	20180130	OMIM			
8733606	Hmcn1	hemicentin 1	gene	DOID:0110014	age related macular degeneration 1		ISO	RGD:1605323	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: HMCN1-related condition | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 1	PMID:14570714|PMID:17576681|PMID:25133751|PMID:25338956|PMID:25741868|PMID:27007659|PMID:28492532|PMID:9536098
8733606	Hmcn1	hemicentin 1	gene	DOID:10283	prostate cancer		ISO	RGD:1605323	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8733606	Hmcn1	hemicentin 1	gene	DOID:10283	prostate cancer		ISO	RGD:1605323	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8733606	Hmcn1	hemicentin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8733606	Hmcn1	hemicentin 1	gene	DOID:1115	sarcoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8733606	Hmcn1	hemicentin 1	gene	DOID:1324	lung cancer		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8733606	Hmcn1	hemicentin 1	gene	DOID:1909	melanoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8733606	Hmcn1	hemicentin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8733606	Hmcn1	hemicentin 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8733606	Hmcn1	hemicentin 1	gene	DOID:3275	thymoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8733606	Hmcn1	hemicentin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8733606	Hmcn1	hemicentin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8733606	Hmcn1	hemicentin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8733606	Hmcn1	hemicentin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8733606	Hmcn1	hemicentin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733606	Hmcn1	hemicentin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8733606	Hmcn1	hemicentin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8733606	Hmcn1	hemicentin 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8733606	Hmcn1	hemicentin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733606	Hmcn1	hemicentin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8733606	Hmcn1	hemicentin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8733717	Dynlt2b	dynein light chain Tctex-type 2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8733717	Dynlt2b	dynein light chain Tctex-type 2B	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1604497	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8733717	Dynlt2b	dynein light chain Tctex-type 2B	gene	DOID:0111910	spermatogenic failure		ISO	RGD:1557776	D	RGD:9068941	20250220	MouseDO			
8733717	Dynlt2b	dynein light chain Tctex-type 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733717	Dynlt2b	dynein light chain Tctex-type 2B	gene	DOID:9001805	Short-Rib Thoracic Dysplasia 17 with or without Polydactyly		ISO	RGD:1604497	D	RGD:7240710	20190315	OMIM			
8733717	Dynlt2b	dynein light chain Tctex-type 2B	gene	DOID:9001805	Short-Rib Thoracic Dysplasia 17 with or without Polydactyly		ISO	RGD:1604497	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DYNLT2B-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 17 with or without polydactyly	PMID:17576681|PMID:26044572|PMID:28492532|PMID:9536098
8733717	Dynlt2b	dynein light chain Tctex-type 2B	gene	DOID:9003735	Splenic Hypoplasia		ISO	RGD:1604497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: asplenia	PMID:25741868
8733730	Slc25a43	solute carrier family 25 member 43	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8733730	Slc25a43	solute carrier family 25 member 43	gene	DOID:3275	thymoma		ISO	RGD:1605262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8733730	Slc25a43	solute carrier family 25 member 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733730	Slc25a43	solute carrier family 25 member 43	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733730	Slc25a43	solute carrier family 25 member 43	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8733744	Tex38	testis expressed 38	gene	DOID:1115	sarcoma		ISO	RGD:2298822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8733759	Tmed1	transmembrane p24 trafficking protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1354453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8733759	Tmed1	transmembrane p24 trafficking protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1354453	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8733759	Tmed1	transmembrane p24 trafficking protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733759	Tmed1	transmembrane p24 trafficking protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733759	Tmed1	transmembrane p24 trafficking protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8733781	Ywhab	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8733781	Ywhab	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta	gene	DOID:1115	sarcoma		ISO	RGD:737527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8733781	Ywhab	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta	gene	DOID:2316	brain ischemia		ISO	RGD:61998	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:15902199|REF_RGD_ID:2306031
8733781	Ywhab	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta	gene	DOID:4362	cervical cancer		ISO	RGD:737527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8733781	Ywhab	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8733781	Ywhab	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733781	Ywhab	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733781	Ywhab	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta	gene	DOID:9007090	Experimental Seizures		ISO	RGD:61998	D	RGD:9068941	20241214	RGD			PMID:12786973|REF_RGD_ID:2298728
8733791	Trpm1	transient receptor potential cation channel subfamily M member 1	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1312607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness	PMID:17576681|PMID:19896113|PMID:25741868|PMID:27803854|PMID:28041643|PMID:28492532|PMID:33691579|PMID:9536098
8733791	Trpm1	transient receptor potential cation channel subfamily M member 1	gene	DOID:0110867	congenital stationary night blindness 1C		ISO	RGD:1312607	D	RGD:7240710	20180130	OMIM			
8733791	Trpm1	transient receptor potential cation channel subfamily M member 1	gene	DOID:0110867	congenital stationary night blindness 1C		ISO	RGD:1312607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness 1C | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C | ClinVar Annotator: match by term: TRPM1-related condition	PMID:17576681|PMID:19878917|PMID:19896113|PMID:19966281|PMID:20300565|PMID:25741868|PMID:26872967|PMID:28492532|PMID:9536098
8733791	Trpm1	transient receptor potential cation channel subfamily M member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8733791	Trpm1	transient receptor potential cation channel subfamily M member 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1312607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:28492532|PMID:30718709
8733791	Trpm1	transient receptor potential cation channel subfamily M member 1	gene	DOID:1059	intellectual disability		ISO	RGD:1312607	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8733791	Trpm1	transient receptor potential cation channel subfamily M member 1	gene	DOID:1909	melanoma		ISO	RGD:1312607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8733791	Trpm1	transient receptor potential cation channel subfamily M member 1	gene	DOID:5723	optic atrophy		ISO	RGD:1312607	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8733791	Trpm1	transient receptor potential cation channel subfamily M member 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1312607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8733791	Trpm1	transient receptor potential cation channel subfamily M member 1	gene	DOID:630	genetic disease		ISO	RGD:1312607	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8733791	Trpm1	transient receptor potential cation channel subfamily M member 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1312607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:17576681|PMID:19896109|PMID:19896113|PMID:19966281|PMID:20300565|PMID:23714322|PMID:25307992|PMID:25741868|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29522070|PMID:30487145|PMID:31589614|PMID:32141364|PMID:32856788|PMID:34426522|PMID:35119454|PMID:35456422|PMID:35567543|PMID:35633130|PMID:37734845|PMID:39462066|PMID:9536098
8733791	Trpm1	transient receptor potential cation channel subfamily M member 1	gene	DOID:9005834	Ependymomas		ISO	RGD:1312607	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
8733791	Trpm1	transient receptor potential cation channel subfamily M member 1	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1312607	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:g.59080C>T (rs11070811) (human)	PMID:21439949|REF_RGD_ID:7175561
8733834	Zfp28	ZFP28 zinc finger protein	gene	DOID:1909	melanoma		ISO	RGD:1347669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8733834	Zfp28	ZFP28 zinc finger protein	gene	DOID:3275	thymoma		ISO	RGD:1347669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8733834	Zfp28	ZFP28 zinc finger protein	gene	DOID:4362	cervical cancer		ISO	RGD:1347669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8733834	Zfp28	ZFP28 zinc finger protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733865	Znf331	zinc finger protein 331	gene	DOID:10534	stomach cancer		ISO	RGD:1344097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8733865	Znf331	zinc finger protein 331	gene	DOID:1324	lung cancer		ISO	RGD:1344097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8733865	Znf331	zinc finger protein 331	gene	DOID:3275	thymoma		ISO	RGD:1344097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8733865	Znf331	zinc finger protein 331	gene	DOID:37	skin disease		ISO	RGD:1344097	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8733865	Znf331	zinc finger protein 331	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733865	Znf331	zinc finger protein 331	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1344097	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8733865	Znf331	zinc finger protein 331	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1344097	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8733865	Znf331	zinc finger protein 331	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8733871	Vapb	VAMP associated protein B and C	gene	DOID:0050752	amyotrophic lateral sclerosis type 8		ISO	RGD:68452	D	RGD:7240710	20180130	OMIM			
8733871	Vapb	VAMP associated protein B and C	gene	DOID:0050752	amyotrophic lateral sclerosis type 8		ISO	RGD:68452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 | ClinVar Annotator: match by term: VAPB-related disorder	PMID:22878164|PMID:23971766|PMID:24326187|PMID:24681403|PMID:24792378|PMID:25382069|PMID:25741868|PMID:26362251|PMID:26467025|PMID:28430856|PMID:28492532|PMID:32385536
8733871	Vapb	VAMP associated protein B and C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8733871	Vapb	VAMP associated protein B and C	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:68452	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1	
8733871	Vapb	VAMP associated protein B and C	gene	DOID:0111194	autosomal dominant adult-onset proximal spinal muscular atrophy		ISO	RGD:68452	D	RGD:7240710	20180130	OMIM			
8733871	Vapb	VAMP associated protein B and C	gene	DOID:0111194	autosomal dominant adult-onset proximal spinal muscular atrophy		ISO	RGD:68452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adult-onset proximal spinal muscular atrophy, autosomal dominant | ClinVar Annotator: match by term: FINKEL LATE-ADULT TYPE SMA | ClinVar Annotator: match by term: Spinal muscular atrophy, late-onset, finkel type	PMID:16199547|PMID:17576681|PMID:20377183|PMID:22878164|PMID:23446633|PMID:23971766|PMID:24326187|PMID:24681403|PMID:24792378|PMID:25382069|PMID:25741868|PMID:26362251|PMID:26467025|PMID:28430856|PMID:28492532|PMID:32385536|PMID:35896380|PMID:9536098
8733871	Vapb	VAMP associated protein B and C	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:11628371|RGD:11630088|RGD:11645806|RGD:11650881|RGD:11654337|RGD:11657090	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Spinal Muscular Atrophy, Dominant	
8733871	Vapb	VAMP associated protein B and C	gene	DOID:12377	spinal muscular atrophy	onset	ISO	RGD:68452	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.P56S (human)	PMID:15372378|REF_RGD_ID:5688230
8733871	Vapb	VAMP associated protein B and C	gene	DOID:3275	thymoma		ISO	RGD:68452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8733871	Vapb	VAMP associated protein B and C	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:68452	D	RGD:9068941	20220811	RGD		DNA:missense mutation:cds:p.P56S (human)	PMID:15372378|REF_RGD_ID:5688230
8733871	Vapb	VAMP associated protein B and C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733871	Vapb	VAMP associated protein B and C	gene	DOID:630	genetic disease		ISO	RGD:68452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15372378|PMID:16187141|PMID:16967488|PMID:17804640|PMID:21275991|PMID:22878164|PMID:23771029|PMID:23971766|PMID:24326187|PMID:24681403|PMID:24792378|PMID:25382069|PMID:25741868|PMID:26362251|PMID:26467025|PMID:28430856|PMID:28492532|PMID:32385536
8733880	Fam89b	family with sequence similarity 89 member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733880	Fam89b	family with sequence similarity 89 member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733887	CUNH1orf174	chromosome unknown C1orf174 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8733887	CUNH1orf174	chromosome unknown C1orf174 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8733887	CUNH1orf174	chromosome unknown C1orf174 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1603248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8733887	CUNH1orf174	chromosome unknown C1orf174 homolog	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603248	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8733887	CUNH1orf174	chromosome unknown C1orf174 homolog	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1603248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8733887	CUNH1orf174	chromosome unknown C1orf174 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733895	Josd1	Josephin domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8733895	Josd1	Josephin domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8733895	Josd1	Josephin domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604837	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8733895	Josd1	Josephin domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733917	Fbln7	fibulin 7	gene	DOID:1909	melanoma		ISO	RGD:1601826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8733917	Fbln7	fibulin 7	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8733917	Fbln7	fibulin 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8733917	Fbln7	fibulin 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8733930	Cep170b	centrosomal protein 170B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8733930	Cep170b	centrosomal protein 170B	gene	DOID:10534	stomach cancer		ISO	RGD:1345091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8733930	Cep170b	centrosomal protein 170B	gene	DOID:1115	sarcoma		ISO	RGD:1345091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8733930	Cep170b	centrosomal protein 170B	gene	DOID:1324	lung cancer		ISO	RGD:1345091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8733930	Cep170b	centrosomal protein 170B	gene	DOID:4362	cervical cancer		ISO	RGD:1345091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8733930	Cep170b	centrosomal protein 170B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8733930	Cep170b	centrosomal protein 170B	gene	DOID:5041	esophageal cancer		ISO	RGD:1345091	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8733930	Cep170b	centrosomal protein 170B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733930	Cep170b	centrosomal protein 170B	gene	DOID:6039	uveal melanoma		ISO	RGD:1345091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8733930	Cep170b	centrosomal protein 170B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8733930	Cep170b	centrosomal protein 170B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8733930	Cep170b	centrosomal protein 170B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733930	Cep170b	centrosomal protein 170B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8733930	Cep170b	centrosomal protein 170B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8733930	Cep170b	centrosomal protein 170B	gene	DOID:9256	colorectal cancer		ISO	RGD:1345091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8733975	Psen1	presenilin 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:731724	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29068127
8733975	Psen1	presenilin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8733975	Psen1	presenilin 1	gene	DOID:0051060	frontotemporal dementia 1		ISO	RGD:731724	D	RGD:7240710	20251105	OMIM			
8733975	Psen1	presenilin 1	gene	DOID:0060135	apraxia		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apraxia	PMID:10441572|PMID:10783295|PMID:15622541|PMID:15776278|PMID:18760694|PMID:20164095|PMID:20301414|PMID:20847418|PMID:23792692|PMID:25741868|PMID:27730373|PMID:27930341|PMID:28492532|PMID:7550356|PMID:7596406|PMID:7623584|PMID:9712537
8733975	Psen1	presenilin 1	gene	DOID:0081292	traumatic brain injury		ISO	RGD:735973	D	RGD:9068941	20200609	RGD			PMID:18240300|REF_RGD_ID:13801189
8733975	Psen1	presenilin 1	gene	DOID:0110042	Alzheimer's disease 3		ISO	RGD:731724	D	RGD:7240710	20180130	OMIM			
8733975	Psen1	presenilin 1	gene	DOID:0110042	Alzheimer's disease 3		ISO	RGD:731724	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance	PMID:10090481|PMID:10327206|PMID:10401002|PMID:10430510|PMID:10441572|PMID:10448055|PMID:10468510|PMID:10525535|PMID:10548420|PMID:10594046|PMID:10631141|PMID:10643802|PMID:10720282|PMID:10764737|PMID:10811883|PMID:11027672|PMID:11070093|PMID:11079548|PMID:11094121|PMID:11094128|PMID:11102478|PMID:11124426|PMID:11126202|PMID:11198283|PMID:11389157|PMID:11395394|PMID:11402113|PMID:11432849|PMID:11504726|PMID:11524469|PMID:11568920|PMID:11684347|PMID:11710891|PMID:11796781|PMID:11836371|PMID:11895378|PMID:11959395|PMID:11978814|PMID:12048239|PMID:12119298|PMID:12192622|PMID:12370477|PMID:12433263|PMID:12484344|PMID:12493737|PMID:12552037|PMID:12660785|PMID:12752408|PMID:12805290|PMID:12810495|PMID:12817569|PMID:12885573|PMID:12891668|PMID:14557582|PMID:14743455|PMID:14769392|PMID:14966176|PMID:15003276|PMID:15004326|PMID:15115757|PMID:15122701|PMID:15205973|PMID:15337637|PMID:15534260|PMID:15622541|PMID:15718035|PMID:15772361|PMID:15776278|PMID:16033913|PMID:16116115|PMID:16216949|PMID:16227967|PMID:16267640|PMID:16344340|PMID:16533963|PMID:16534109|PMID:16628450|PMID:16651627|PMID:16669732|PMID:16710641|PMID:16752394|PMID:16805926|PMID:16897084|PMID:16923167|PMID:16930450|PMID:16941492|PMID:16952411|PMID:17108687|PMID:17186461|PMID:17254019|PMID:17320044|PMID:17366635|PMID:17431506|PMID:17493013|PMID:17502474|PMID:17553989|PMID:17576681|PMID:17615170|PMID:17854491|PMID:17931627|PMID:17962197|PMID:17968601|PMID:18350357|PMID:18525293|PMID:18580586|PMID:18587238|PMID:18637955|PMID:18667258|PMID:18797263|PMID:19005074|PMID:19021905|PMID:19111578|PMID:19196715|PMID:19276550|PMID:19276551|PMID:19457079|PMID:19555742|PMID:19659892|PMID:19667325|PMID:19849793|PMID:1985297|PMID:19915487|PMID:20047059|PMID:20083199|PMID:20145736|PMID:20157243|PMID:20164095|PMID:20194882|PMID:2025423|PMID:20301414|PMID:20332427|PMID:20484632|PMID:20628413|PMID:20634584|PMID:20729396|PMID:21094210|PMID:21357415|PMID:21373759|PMID:21685457|PMID:21725313|PMID:21726674|PMID:21822699|PMID:21919498|PMID:21952501|PMID:21959359|PMID:22118943|PMID:22188655|PMID:22232349|PMID:22306804|PMID:22312439|PMID:22343824|PMID:22426017|PMID:22460587|PMID:22461631|PMID:22475797|PMID:22503161|PMID:22505025|PMID:22508690|PMID:22572737|PMID:22581678|PMID:22584618|PMID:22689192|PMID:22810102|PMID:22906081|PMID:23085935|PMID:23114514|PMID:23341831|PMID:23380992|PMID:23383383|PMID:23409063|PMID:23539189|PMID:23570890|PMID:23579325|PMID:23588422|PMID:23705774|PMID:23861362|PMID:23885714|PMID:23990795|PMID:24093083|PMID:24121961|PMID:24158021|PMID:24304563|PMID:24352661|PMID:24463146|PMID:24698269|PMID:24860142|PMID:24928124|PMID:25182737|PMID:25239621|PMID:25299611|PMID:25326637|PMID:25333068|PMID:25471389|PMID:25741868|PMID:25921538|PMID:25937274|PMID:25959826|PMID:26051801|PMID:26166206|PMID:26214276|PMID:26242991|PMID:26243271|PMID:26337232|PMID:26438723|PMID:26462451|PMID:26467025|PMID:26481686|PMID:26756738|PMID:26826204|PMID:26888304|PMID:26925509|PMID:27014058|PMID:27073747|PMID:27264813|PMID:27312774|PMID:27345973|PMID:27357204|PMID:27454811|PMID:27535542|PMID:27540966|PMID:27614114|PMID:27622770|PMID:27644130|PMID:27777022|PMID:27810638|PMID:27836335|PMID:27930341|PMID:28269784|PMID:28323683|PMID:28350801|PMID:28492532|PMID:28550247|PMID:28554858|PMID:29091718|PMID:29316780|PMID:29874583|PMID:30054184|PMID:30412504|PMID:30567237|PMID:30590039|PMID:30745123|PMID:30797548|PMID:30924900|PMID:31153663|PMID:31235249|PMID:31440394|PMID:31536626|PMID:31686034|PMID:31914229|PMID:31996268|PMID:32032730|PMID:32087291|PMID:32556937|PMID:32894632|PMID:33203472|PMID:33440141|PMID:33918046|PMID:7550356|PMID:7581374|PMID:7585193|PMID:7596406|PMID:7623584|PMID:7942850|PMID:8538334|PMID:8634711|PMID:8634712|PMID:8733303|PMID:8733749|PMID:8755489|PMID:8773614|PMID:8837617|PMID:8910898|PMID:8931704|PMID:8986743|PMID:9007097|PMID:9007311|PMID:9051814|PMID:9052708|PMID:9126060|PMID:9172170|PMID:9189043|PMID:9292884|PMID:9384602|PMID:9436726|PMID:9443865|PMID:9450754|PMID:9507958|PMID:9521423
8733975	Psen1	presenilin 1	gene	DOID:0110042	Alzheimer's disease 3		ISO	RGD:731724	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance	PMID:9536098|PMID:9540849|PMID:9544835|PMID:9546792|PMID:9712537|PMID:9728730|PMID:9804121|PMID:9811326|PMID:9831473|PMID:9851443|PMID:9851450|PMID:9915968
8733975	Psen1	presenilin 1	gene	DOID:0110042	Alzheimer's disease 3		ISO	RGD:731724	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance	PMID:25921538|PMID:25937274|PMID:25959826|PMID:26051801|PMID:26142917|PMID:26159191|PMID:26166206|PMID:26194182|PMID:26214276|PMID:26242991|PMID:26243271|PMID:26337232|PMID:26396515|PMID:26410308|PMID:26438723|PMID:26462451|PMID:26467025|PMID:26481686|PMID:26549787|PMID:26756738|PMID:26826204|PMID:26888304|PMID:26923592|PMID:26925509|PMID:27014028|PMID:27014058|PMID:27073747|PMID:27100199|PMID:27100200|PMID:27206484|PMID:27264813|PMID:27312774|PMID:27329738|PMID:27345973|PMID:27357204|PMID:27454811|PMID:27535542|PMID:27540966|PMID:27614114|PMID:27622770|PMID:27644130|PMID:27777022|PMID:27793474|PMID:27799753|PMID:27810638|PMID:27816212|PMID:27836335|PMID:27926491|PMID:2793034|PMID:27930341|PMID:28003435|PMID:28008242|PMID:28082723|PMID:28209190|PMID:28269784|PMID:28323683|PMID:28350801|PMID:28492532|PMID:28532646|PMID:28550247|PMID:28554858|PMID:28749476|PMID:28753424|PMID:28767663|PMID:28985224|PMID:29091718|PMID:29142009|PMID:29316780|PMID:29404783|PMID:29494861|PMID:29525180|PMID:29571857|PMID:29590070|PMID:29661148|PMID:29692703|PMID:29747683|PMID:29874583|PMID:29970176|PMID:30021643|PMID:30045758|PMID:30054184|PMID:30090657|PMID:30138848|PMID:30200536|PMID:30279455|PMID:30390718|PMID:30412504|PMID:30528841|PMID:30567237|PMID:30590039|PMID:30598257|PMID:30630874|PMID:30716424|PMID:30745123|PMID:30797548|PMID:30814350|PMID:30822634|PMID:30924900|PMID:30954774|PMID:30958370|PMID:31109937|PMID:31153663|PMID:31177233|PMID:31207465|PMID:31217084|PMID:31235249|PMID:31322578|PMID:31381512|PMID:31440394|PMID:31536626|PMID:31686034|PMID:31847883|PMID:31914229|PMID:31920494|PMID:31996268|PMID:32032730|PMID:32087291|PMID:32103039|PMID:32105841|PMID:32328830|PMID:32395715|PMID:32468481|PMID:32556937|PMID:32579498|PMID:32589559|PMID:32590294|PMID:32594361|PMID:32894632|PMID:32917274|PMID:33188013|PMID:33188256|PMID:33203472|PMID:33274538|PMID:33413468|PMID:33440141|PMID:33476461|PMID:33571524|PMID:33855944|PMID:34102969|PMID:34220489|PMID:34319632|PMID:34331941|PMID:34366350|PMID:34389718|PMID:34720994|PMID:34776449|PMID:34901437|PMID:34918018|PMID:35065037|PMID:35260199|PMID:35278341|PMID:35365805|PMID:35645353|PMID:35650585|PMID:35847683|PMID:35949106|PMID:36133075|PMID:36142879|PMID:36626935|PMID:37313494|PMID:37341843|PMID:37553376|PMID:37614242|PMID:37646002|PMID:37697307|PMID:37712079|PMID:38215435|PMID:38281098|PMID:38574388|PMID:38683602|PMID:38899694|PMID:39825153|PMID:7550356|PMID:7581374|PMID:7585193|PMID:7596406|PMID:7623584|PMID:7623585|PMID:7651536|PMID:7824141|PMID:7942850|PMID:8538334|PMID:8634711|PMID:8634712|PMID:8733303|PMID:8733749|PMID:8742474|PMID:8755489|PMID:8773614|PMID:8837617|PMID:8905716|PMID:8910898|PMID:8931704|PMID:8962160|PMID:8986743|PMID:9007097|PMID:9007311|PMID:9051814|PMID:9052708|PMID:9126060|PMID:9172170|PMID:9189043|PMID:9196071|PMID:9223097|PMID:9225696|PMID:9292884|PMID:9347932|PMID:9384602|PMID:9436726|PMID:9437013|PMID:9443865|PMID:9450754|PMID:9452052|PMID:9502232|PMID:9507958|PMID:9521418|PMID:9521423|PMID:9536098|PMID:9540849|PMID:9544835|PMID:9546792|PMID:9605727|PMID:9680315|PMID:9712537|PMID:9719376|PMID:9728730|PMID:9804121|PMID:9811326|PMID:9831473|PMID:9833068|PMID:9851443|PMID:9851450|PMID:9915968
8733975	Psen1	presenilin 1	gene	DOID:0110042	Alzheimer's disease 3		ISO	RGD:731724	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Alzheimer disease, type 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance	PMID:10090481|PMID:10327206|PMID:10401002|PMID:10441572|PMID:10533070|PMID:10643802|PMID:10783295|PMID:11079548|PMID:11402113|PMID:11524469|PMID:11568920|PMID:11684347|PMID:11710891|PMID:12119298|PMID:12192622|PMID:12552037|PMID:12817569|PMID:12885573|PMID:12891668|PMID:14743455|PMID:15003276|PMID:15094846|PMID:15115757|PMID:15122701|PMID:15622541|PMID:15776278|PMID:16033913|PMID:16216949|PMID:16267640|PMID:16710641|PMID:16752394|PMID:16948293|PMID:16952411|PMID:17108181|PMID:17431506|PMID:17553989|PMID:17962197|PMID:18350357|PMID:18482978|PMID:18525293|PMID:18637955|PMID:18667258|PMID:18760694|PMID:18797263|PMID:19005074|PMID:19111578|PMID:19659892|PMID:19796846|PMID:20008660|PMID:20157243|PMID:20164095|PMID:20194882|PMID:20301414|PMID:20460383|PMID:20541250|PMID:20634584|PMID:20847418|PMID:21335660|PMID:21531718|PMID:21725313|PMID:21959359|PMID:22312439|PMID:22461631|PMID:22475797|PMID:22503161|PMID:22581678|PMID:22766738|PMID:22810102|PMID:22906081|PMID:23114514|PMID:23383383|PMID:23539189|PMID:23792692|PMID:23861362|PMID:23885714|PMID:23990795|PMID:24093083|PMID:24121961|PMID:24217025|PMID:24463146|PMID:24559647|PMID:24698269|PMID:24928124|PMID:25108559|PMID:25299611|PMID:25333068|PMID:25394380|PMID:25471389|PMID:25741868|PMID:25921538|PMID:25937274|PMID:26142917|PMID:26166206|PMID:26214276|PMID:26242991|PMID:26467025|PMID:26756738|PMID:26826204|PMID:26888304|PMID:26925509|PMID:27014058|PMID:27073747|PMID:27312774|PMID:27357204|PMID:27535542|PMID:27614114|PMID:27644130|PMID:27730373|PMID:27777022|PMID:27816212|PMID:27836335|PMID:27930341|PMID:28003435|PMID:28082723|PMID:28209190|PMID:28350801|PMID:28492532|PMID:28985224|PMID:29091718|PMID:29142009|PMID:29316780|PMID:29747683|PMID:29874583|PMID:30045758|PMID:30114415|PMID:30412504|PMID:30590039|PMID:30630874|PMID:30745123|PMID:30814350|PMID:31217084|PMID:31235249|PMID:31440394|PMID:31536626|PMID:31847883|PMID:31914229|PMID:31996268|PMID:32032730|PMID:32087291|PMID:32594361|PMID:32917274|PMID:33188256|PMID:33476461|PMID:33855944|PMID:34220489|PMID:34366350|PMID:34720994|PMID:34776449|PMID:34901437|PMID:34918018|PMID:35365805|PMID:35650585|PMID:36133075|PMID:36142879|PMID:36626935|PMID:37553376|PMID:37614242|PMID:37697307|PMID:37712079|PMID:38184787|PMID:38281098|PMID:38574388|PMID:38683602|PMID:39428839|PMID:7550356|PMID:7596406|PMID:7623584|PMID:7942850|PMID:8773614|PMID:8837617|PMID:9007097|PMID:9052708|PMID:9223097|PMID:9347932|PMID:9384602|PMID:9521423|PMID:9605727|PMID:9712537|PMID:9831473|PMID:9851443|PMID:9851450|PMID:9915968
8733975	Psen1	presenilin 1	gene	DOID:0110455	dilated cardiomyopathy 1U		ISO	RGD:731724	D	RGD:7240710	20180130	OMIM			
8733975	Psen1	presenilin 1	gene	DOID:0110455	dilated cardiomyopathy 1U		ISO	RGD:731724	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1U | ClinVar Annotator: match by term: Dilated cardiomyopathy 1U	PMID:10643802|PMID:11524469|PMID:11710891|PMID:12119298|PMID:12192622|PMID:15003276|PMID:16033913|PMID:16216949|PMID:16952411|PMID:17186461|PMID:17553989|PMID:18350357|PMID:18525293|PMID:18797263|PMID:19111578|PMID:19659892|PMID:20194882|PMID:20634584|PMID:21335660|PMID:21959359|PMID:22312439|PMID:22475797|PMID:22810102|PMID:22906081|PMID:23114514|PMID:23383383|PMID:23861362|PMID:23885714|PMID:23990795|PMID:24217025|PMID:24698269|PMID:25333068|PMID:25741868|PMID:25937274|PMID:26166206|PMID:26203236|PMID:26214276|PMID:26467025|PMID:26756738|PMID:26826204|PMID:26888304|PMID:27073747|PMID:27312774|PMID:27357204|PMID:27535542|PMID:27614114|PMID:27644130|PMID:27930341|PMID:28492532|PMID:29091718|PMID:29874583|PMID:30045758|PMID:31536626|PMID:32032730|PMID:32087291|PMID:33188256|PMID:34918018|PMID:36133075|PMID:37614242|PMID:38184787|PMID:38574388|PMID:38683602|PMID:39428839|PMID:8773614|PMID:9384602|PMID:9521423|PMID:9851443|PMID:9851450|PMID:9915968
8733975	Psen1	presenilin 1	gene	DOID:10534	stomach cancer		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8733975	Psen1	presenilin 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731724	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease	PMID:10075646|PMID:10643802|PMID:11198283|PMID:12192622|PMID:12615638|PMID:15003276|PMID:16033913|PMID:16216949|PMID:16752394|PMID:16952411|PMID:18350357|PMID:18525293|PMID:19111578|PMID:19659892|PMID:20194882|PMID:21725313|PMID:21959359|PMID:22503161|PMID:22810102|PMID:22906081|PMID:23539189|PMID:23861362|PMID:23990795|PMID:24928124|PMID:25333068|PMID:25741868|PMID:25937274|PMID:26166206|PMID:26194182|PMID:26467025|PMID:26756738|PMID:27312774|PMID:27357204|PMID:27535542|PMID:27644130|PMID:27777022|PMID:27930341|PMID:28350801|PMID:28492532|PMID:28749476|PMID:29142009|PMID:30090657|PMID:30279455|PMID:32087291|PMID:35650585|PMID:8773614|PMID:9347932|PMID:9384602|PMID:9452052|PMID:9851443|PMID:9851450|PMID:9915968
8733975	Psen1	presenilin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8733975	Psen1	presenilin 1	gene	DOID:11088	asphyxia neonatorum		ISO	RGD:731724	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17963755
8733975	Psen1	presenilin 1	gene	DOID:1115	sarcoma		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8733975	Psen1	presenilin 1	gene	DOID:11870	Pick's disease		ISO	RGD:731724	D	RGD:7240710	20180130	OMIM			
8733975	Psen1	presenilin 1	gene	DOID:11870	Pick's disease		ISO	RGD:731724	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dementia with lobar atrophy and neuronal cytoplasmic inclusions | ClinVar Annotator: match by term: PICK DISEASE | ClinVar Annotator: match by term: PICK DISEASE OF BRAIN | ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease	PMID:10441572|PMID:10533070|PMID:10643802|PMID:10783295|PMID:11524469|PMID:11568920|PMID:11684347|PMID:11710891|PMID:12119298|PMID:12192622|PMID:12885573|PMID:15003276|PMID:15122701|PMID:15622541|PMID:15776278|PMID:16033913|PMID:16216949|PMID:16752394|PMID:16948293|PMID:16952411|PMID:17553989|PMID:17962197|PMID:18350357|PMID:18525293|PMID:18667258|PMID:18760694|PMID:18797263|PMID:19005074|PMID:19111578|PMID:19659892|PMID:20164095|PMID:20194882|PMID:20301414|PMID:20634584|PMID:20847418|PMID:21335660|PMID:21725313|PMID:21959359|PMID:22312439|PMID:22475797|PMID:22503161|PMID:22810102|PMID:22906081|PMID:23114514|PMID:23383383|PMID:23539189|PMID:23792692|PMID:23861362|PMID:23885714|PMID:23990795|PMID:24121961|PMID:24463146|PMID:24698269|PMID:24928124|PMID:25299611|PMID:25333068|PMID:25741868|PMID:25937274|PMID:26166206|PMID:26214276|PMID:26242991|PMID:26467025|PMID:26756738|PMID:26826204|PMID:26888304|PMID:26925509|PMID:27014058|PMID:27073747|PMID:27312774|PMID:27357204|PMID:27535542|PMID:27614114|PMID:27644130|PMID:27730373|PMID:27930341|PMID:28350801|PMID:28492532|PMID:28985224|PMID:29091718|PMID:29316780|PMID:29874583|PMID:30045758|PMID:30114415|PMID:30412504|PMID:30630874|PMID:30814350|PMID:31235249|PMID:31440394|PMID:31536626|PMID:31914229|PMID:31996268|PMID:32032730|PMID:32087291|PMID:32594361|PMID:32917274|PMID:33188256|PMID:33855944|PMID:34220489|PMID:34776449|PMID:34918018|PMID:35365805|PMID:35650585|PMID:36133075|PMID:37614242|PMID:38184787|PMID:38281098|PMID:38574388|PMID:38683602|PMID:39428839|PMID:7550356|PMID:7596406|PMID:7623584|PMID:8773614|PMID:9347932|PMID:9384602|PMID:9521423|PMID:9712537|PMID:9851443|PMID:9851450|PMID:9915968
8733975	Psen1	presenilin 1	gene	DOID:1289	neurodegenerative disease		ISO	RGD:731724	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23541064
8733975	Psen1	presenilin 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731724	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:17186461
8733975	Psen1	presenilin 1	gene	DOID:1307	dementia		ISO	RGD:731724	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dementia	PMID:10441572|PMID:10783295|PMID:15622541|PMID:15776278|PMID:16752394|PMID:18760694|PMID:20164095|PMID:20301414|PMID:20847418|PMID:21725313|PMID:22503161|PMID:23539189|PMID:23792692|PMID:24928124|PMID:25741868|PMID:26467025|PMID:26756738|PMID:27730373|PMID:27930341|PMID:28492532|PMID:35650585|PMID:7550356|PMID:7596406|PMID:7623584|PMID:9347932|PMID:9712537
8733975	Psen1	presenilin 1	gene	DOID:1324	lung cancer		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8733975	Psen1	presenilin 1	gene	DOID:1561	cognitive disorder		ISO	RGD:731724	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26945731
8733975	Psen1	presenilin 1	gene	DOID:1909	melanoma		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8733975	Psen1	presenilin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8733975	Psen1	presenilin 1	gene	DOID:3275	thymoma		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8733975	Psen1	presenilin 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8733975	Psen1	presenilin 1	gene	DOID:4362	cervical cancer		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8733975	Psen1	presenilin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:731724	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8733975	Psen1	presenilin 1	gene	DOID:543	dystonia		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:24121961|PMID:25741868|PMID:27930341|PMID:28492532|PMID:34776449|PMID:35365805
8733975	Psen1	presenilin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8733975	Psen1	presenilin 1	gene	DOID:630	genetic disease		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8733975	Psen1	presenilin 1	gene	DOID:8927	learning disability		ISO	RGD:731724	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25213453
8733975	Psen1	presenilin 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:24121961|PMID:25741868|PMID:27930341|PMID:28492532|PMID:34776449|PMID:35365805
8733975	Psen1	presenilin 1	gene	DOID:9000412	Presenile and Senile Dementia		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Presenile and senile dementia	PMID:10643802|PMID:12192622|PMID:15003276|PMID:16033913|PMID:16216949|PMID:16952411|PMID:18350357|PMID:18525293|PMID:19111578|PMID:19659892|PMID:20194882|PMID:21959359|PMID:22810102|PMID:22906081|PMID:23861362|PMID:23990795|PMID:25333068|PMID:25741868|PMID:25937274|PMID:26166206|PMID:26467025|PMID:27312774|PMID:27357204|PMID:27535542|PMID:27644130|PMID:27930341|PMID:28492532|PMID:32087291|PMID:8773614|PMID:9384602|PMID:9851443|PMID:9851450|PMID:9915968
8733975	Psen1	presenilin 1	gene	DOID:9000831	Hypokinesia		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradykinesia	PMID:24121961|PMID:25741868|PMID:27930341|PMID:28492532|PMID:34776449|PMID:35365805
8733975	Psen1	presenilin 1	gene	DOID:9001981	Weight Loss		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:10441572|PMID:10783295|PMID:15622541|PMID:15776278|PMID:18760694|PMID:20164095|PMID:20301414|PMID:20847418|PMID:23792692|PMID:25741868|PMID:27730373|PMID:27930341|PMID:28492532|PMID:7550356|PMID:7596406|PMID:7623584|PMID:9712537
8733975	Psen1	presenilin 1	gene	DOID:9002350	Hereditary Hemorrhagic Telangiectasia, Type 1		ISO	RGD:731724	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1	PMID:25741868|PMID:29142009|PMID:30822634|PMID:32235595
8733975	Psen1	presenilin 1	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:12493737|PMID:25741868|PMID:27930341|PMID:28492532
8733975	Psen1	presenilin 1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:735973	D	RGD:9068941	20200609	RGD			PMID:16079160|REF_RGD_ID:1580694
8733975	Psen1	presenilin 1	gene	DOID:9002720	Splenomegaly		ISO	RGD:731724	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27117003
8733975	Psen1	presenilin 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mental deterioration	PMID:10441572|PMID:10783295|PMID:15622541|PMID:15776278|PMID:18760694|PMID:20164095|PMID:20301414|PMID:20847418|PMID:23792692|PMID:25741868|PMID:27730373|PMID:27930341|PMID:28492532|PMID:7550356|PMID:7596406|PMID:7623584|PMID:9712537
8733975	Psen1	presenilin 1	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:731724	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:19522546|PMID:33971107
8733975	Psen1	presenilin 1	gene	DOID:9003065	Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia		ISO	RGD:731724	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA	PMID:25741868
8733975	Psen1	presenilin 1	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:735973	D	RGD:9068941	20200609	RGD			PMID:9160754|REF_RGD_ID:1302520
8733975	Psen1	presenilin 1	gene	DOID:9003829	Familial Acne Inversa 3		ISO	RGD:731724	D	RGD:7240710	20210721	OMIM			
8733975	Psen1	presenilin 1	gene	DOID:9003829	Familial Acne Inversa 3		ISO	RGD:731724	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Acne inversa, familial, 3	PMID:10366599|PMID:10439444|PMID:10441572|PMID:10468510|PMID:10502791|PMID:10533070|PMID:10631141|PMID:10643802|PMID:10783295|PMID:10854108|PMID:11013240|PMID:11027672|PMID:11030797|PMID:11043553|PMID:11198283|PMID:11524469|PMID:11568920|PMID:11684347|PMID:11710891|PMID:12119298|PMID:12192622|PMID:12392798|PMID:12552037|PMID:12885573|PMID:14623725|PMID:15003276|PMID:15622541|PMID:15764596|PMID:15776278|PMID:16033913|PMID:16043812|PMID:16199547|PMID:16216949|PMID:16533963|PMID:16752394|PMID:16948293|PMID:16952411|PMID:16959576|PMID:17366635|PMID:17431506|PMID:17553989|PMID:17576681|PMID:17962197|PMID:17968601|PMID:18350357|PMID:18525293|PMID:18667258|PMID:18760694|PMID:18797263|PMID:19005074|PMID:19111578|PMID:19659892|PMID:19912322|PMID:20164095|PMID:20194882|PMID:20301414|PMID:20481270|PMID:20628413|PMID:20634584|PMID:20847418|PMID:21335660|PMID:21422519|PMID:21725313|PMID:21822699|PMID:21959359|PMID:22221884|PMID:22312439|PMID:22461631|PMID:22475797|PMID:22503161|PMID:22517194|PMID:22766738|PMID:22810102|PMID:22906081|PMID:23114514|PMID:23123781|PMID:23383383|PMID:23539189|PMID:23638752|PMID:23752245|PMID:23792692|PMID:23861362|PMID:23885714|PMID:23990795|PMID:24121961|PMID:24217025|PMID:24463146|PMID:24650794|PMID:24698269|PMID:24773620|PMID:24928124|PMID:25163546|PMID:25299611|PMID:25333068|PMID:25471389|PMID:25741868|PMID:25937274|PMID:26166206|PMID:26194182|PMID:26214276|PMID:26242991|PMID:26396515|PMID:26410308|PMID:26467025|PMID:26549787|PMID:26756738|PMID:26826204|PMID:26888304|PMID:26925509|PMID:27014058|PMID:27073747|PMID:27312774|PMID:27357204|PMID:27454811|PMID:27535542|PMID:27614114|PMID:27644130|PMID:27730373|PMID:27777022|PMID:27836335|PMID:27930341|PMID:28323683|PMID:28350801|PMID:28492532|PMID:28532646|PMID:28749476|PMID:28985224|PMID:29091718|PMID:29316780|PMID:29404783|PMID:29525180|PMID:29571857|PMID:29692703|PMID:29874583|PMID:30021643|PMID:30045758|PMID:30090657|PMID:30114415|PMID:30279455|PMID:30412504|PMID:30528841|PMID:30630874|PMID:30814350|PMID:30822634|PMID:30954774|PMID:30958370|PMID:31235249|PMID:31322578|PMID:31440394|PMID:31536626|PMID:31914229|PMID:31996268|PMID:32032730|PMID:32087291|PMID:32103039|PMID:32267026|PMID:32556937|PMID:32579498|PMID:32590294|PMID:32594361|PMID:32894632|PMID:32917274|PMID:33188256|PMID:33203472|PMID:33440141|PMID:33855944|PMID:34102969|PMID:34220489|PMID:34389718|PMID:34776449|PMID:34918018|PMID:35260199|PMID:35278341|PMID:35365805|PMID:35650585|PMID:36133075|PMID:36895955|PMID:37313494|PMID:37341843|PMID:37614242|PMID:38184787|PMID:38281098|PMID:38574388|PMID:38683602|PMID:39428839|PMID:7550356|PMID:7596406|PMID:7623584|PMID:8634711|PMID:8773614|PMID:9292884|PMID:9347932|PMID:9384602|PMID:9521418|PMID:9521423|PMID:9536098|PMID:9712537|PMID:9719376|PMID:9851443|PMID:9851450|PMID:9915968
8733975	Psen1	presenilin 1	gene	DOID:9005832	Amyloid Plaques		ISO	RGD:731724	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:33096116
8733975	Psen1	presenilin 1	gene	DOID:9006051	Alzheimer's Disease, Familial, 3, with Spastic Paraparesis		ISO	RGD:731724	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Alzheimer disease familial 3, with spastic paraparesis	PMID:24121961|PMID:25741868|PMID:27930341|PMID:28492532|PMID:34776449|PMID:35365805
8733975	Psen1	presenilin 1	gene	DOID:9006129	Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques		ISO	RGD:731724	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES | ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES | ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES	PMID:12111359|PMID:19667325|PMID:20634584|PMID:23761040|PMID:25741868|PMID:26756738|PMID:27930341|PMID:28350801|PMID:28492532
8733975	Psen1	presenilin 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:731724	D	RGD:9068941	20210212	CTD		CTD Direct Evidence: marker/mechanism	PMID:16651627|PMID:27567873
8733975	Psen1	presenilin 1	gene	DOID:9006478	Amyloid Neuropathies		ISO	RGD:731724	D	RGD:9068941	20210212	CTD		CTD Direct Evidence: marker/mechanism	PMID:27567873
8733975	Psen1	presenilin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8733975	Psen1	presenilin 1	gene	DOID:9006976	Erythema		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Erythema	PMID:24121961|PMID:25741868|PMID:27930341|PMID:28492532|PMID:34776449|PMID:35365805
8733975	Psen1	presenilin 1	gene	DOID:9007402	Gliosis		ISO	RGD:731724	D	RGD:9068941	20210212	CTD		CTD Direct Evidence: marker/mechanism	PMID:27567873
8733975	Psen1	presenilin 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:731724	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:16752394|PMID:21725313|PMID:22503161|PMID:23539189|PMID:24928124|PMID:25741868|PMID:26467025|PMID:26756738|PMID:27930341|PMID:28492532|PMID:35650585|PMID:9347932
8733975	Psen1	presenilin 1	gene	DOID:9008895	Familial Hidradenitis Suppurativa		ISO	RGD:731724	D	RGD:9068941	20210723	CTD		CTD Direct Evidence: marker/mechanism	PMID:20929727
8733975	Psen1	presenilin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8733975	Psen1	presenilin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8733975	Psen1	presenilin 1	gene	DOID:9120	amyloidosis		ISO	RGD:731724	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23541064
8733975	Psen1	presenilin 1	gene	DOID:9255	frontotemporal dementia		ISO	RGD:731724	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH PARKINSONISM | ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia	PMID:10441572|PMID:10533070|PMID:10643802|PMID:10783295|PMID:11524469|PMID:11568920|PMID:11684347|PMID:11710891|PMID:12119298|PMID:12192622|PMID:12885573|PMID:15003276|PMID:15622541|PMID:15776278|PMID:16033913|PMID:16216949|PMID:16344340|PMID:16752394|PMID:16948293|PMID:16952411|PMID:17553989|PMID:17931627|PMID:17962197|PMID:18350357|PMID:18525293|PMID:18667258|PMID:18760694|PMID:18797263|PMID:19005074|PMID:19111578|PMID:19659892|PMID:20164095|PMID:20194882|PMID:20301414|PMID:20634584|PMID:20847418|PMID:21335660|PMID:21725313|PMID:21959359|PMID:22312439|PMID:22475797|PMID:22503161|PMID:22810102|PMID:22906081|PMID:23114514|PMID:23383383|PMID:23539189|PMID:23792692|PMID:23861362|PMID:23885714|PMID:23990795|PMID:24121961|PMID:24463146|PMID:24698269|PMID:24928124|PMID:25299611|PMID:25333068|PMID:25741868|PMID:25937274|PMID:26166206|PMID:26214276|PMID:26242991|PMID:26467025|PMID:26756738|PMID:26826204|PMID:26888304|PMID:26925509|PMID:27014058|PMID:27073747|PMID:27312774|PMID:27357204|PMID:27535542|PMID:27614114|PMID:27644130|PMID:27730373|PMID:27930341|PMID:28350801|PMID:28492532|PMID:28550247|PMID:28985224|PMID:29091718|PMID:29316780|PMID:29874583|PMID:30045758|PMID:30114415|PMID:30279455|PMID:30412504|PMID:30630874|PMID:30814350|PMID:31153663|PMID:31235249|PMID:31440394|PMID:31536626|PMID:31914229|PMID:31996268|PMID:32032730|PMID:32087291|PMID:32594361|PMID:32917274|PMID:33188256|PMID:33855944|PMID:34220489|PMID:34776449|PMID:34918018|PMID:35365805|PMID:35650585|PMID:36133075|PMID:37614242|PMID:38184787|PMID:38281098|PMID:38574388|PMID:38683602|PMID:39428839|PMID:7550356|PMID:7596406|PMID:7623584|PMID:8773614|PMID:9347932|PMID:9384602|PMID:9521423|PMID:9712537|PMID:9851443|PMID:9851450|PMID:9915968
8733975	Psen1	presenilin 1	gene	DOID:93	language disorder		ISO	RGD:731724	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Language disorder	
8734003	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8734003	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8734003	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:0081301	intellectual developmental disorder with ocular anomalies and distinctive facial features		ISO	RGD:1603934	D	RGD:7240710	20221102	OMIM			
8734003	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:0081301	intellectual developmental disorder with ocular anomalies and distinctive facial features		ISO	RGD:1603934	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder with ocular anomalies and distinctive facial features | ClinVar Annotator: match by term: MTSS2-related neurodevelopmental disorder	PMID:25741868|PMID:36067766|PMID:36332614|PMID:37657631|PMID:39890443
8734003	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8734003	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:1059	intellectual disability		ISO	RGD:1603934	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8734003	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1603934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8734003	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8734003	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8734003	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734003	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8734003	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8734003	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8734003	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8734029	Taf6	TATA-box binding protein associated factor 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8734029	Taf6	TATA-box binding protein associated factor 6	gene	DOID:0080505	Cornelia de Lange syndrome 1		ISO	RGD:1323155	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cornelia de Lange syndrome 1	
8734029	Taf6	TATA-box binding protein associated factor 6	gene	DOID:10534	stomach cancer		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8734029	Taf6	TATA-box binding protein associated factor 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8734029	Taf6	TATA-box binding protein associated factor 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1323155	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8734029	Taf6	TATA-box binding protein associated factor 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8734029	Taf6	TATA-box binding protein associated factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734029	Taf6	TATA-box binding protein associated factor 6	gene	DOID:630	genetic disease		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8734029	Taf6	TATA-box binding protein associated factor 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8734029	Taf6	TATA-box binding protein associated factor 6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8734029	Taf6	TATA-box binding protein associated factor 6	gene	DOID:9004446	Alazami-Yuan Syndrome		ISO	RGD:1323155	D	RGD:7240710	20190315	OMIM			
8734029	Taf6	TATA-box binding protein associated factor 6	gene	DOID:9004446	Alazami-Yuan Syndrome		ISO	RGD:1323155	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALAZAMI-YUAN SYNDROME | ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition	PMID:11295558|PMID:25741868|PMID:28492532
8734029	Taf6	TATA-box binding protein associated factor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8734029	Taf6	TATA-box binding protein associated factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8734061	Ppp1r12c	protein phosphatase 1 regulatory subunit 12C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8734061	Ppp1r12c	protein phosphatase 1 regulatory subunit 12C	gene	DOID:10534	stomach cancer		ISO	RGD:1343542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8734061	Ppp1r12c	protein phosphatase 1 regulatory subunit 12C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8734061	Ppp1r12c	protein phosphatase 1 regulatory subunit 12C	gene	DOID:4362	cervical cancer		ISO	RGD:1343542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8734061	Ppp1r12c	protein phosphatase 1 regulatory subunit 12C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343542	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8734061	Ppp1r12c	protein phosphatase 1 regulatory subunit 12C	gene	DOID:5041	esophageal cancer		ISO	RGD:1343542	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8734061	Ppp1r12c	protein phosphatase 1 regulatory subunit 12C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734061	Ppp1r12c	protein phosphatase 1 regulatory subunit 12C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8734061	Ppp1r12c	protein phosphatase 1 regulatory subunit 12C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8734111	Rps8	ribosomal protein S8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8734111	Rps8	ribosomal protein S8	gene	DOID:14330	Parkinson's disease		ISO	RGD:731589	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18353766
8734111	Rps8	ribosomal protein S8	gene	DOID:3275	thymoma		ISO	RGD:731589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8734111	Rps8	ribosomal protein S8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734111	Rps8	ribosomal protein S8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8734111	Rps8	ribosomal protein S8	gene	DOID:9004657	Weight Gain		ISO	RGD:731589	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8734111	Rps8	ribosomal protein S8	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:731589	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
8734111	Rps8	ribosomal protein S8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8734111	Rps8	ribosomal protein S8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:0060185	Clostridium difficile colitis	severity	ISO	RGD:1552166	D	RGD:9068941	20201009	RGD			PMID:26455347|REF_RGD_ID:11097134
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:0080158	herpes simplex virus keratitis		ISO	RGD:1552166	D	RGD:9068941	20201009	RGD		mRNA;increased expression:trigeminal ganglion (mouse)	PMID:12162874|REF_RGD_ID:39457946
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:0080642	Middle East respiratory syndrome		ISO	RGD:1552166	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung (mouse)	PMID:32364527|REF_RGD_ID:27226699
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:10808	gastric ulcer	treatment	ISO	RGD:1552166	D	RGD:9068941	20201015	RGD			PMID:23874957|REF_RGD_ID:39458037
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:11339	pneumocystosis		ISO	RGD:1552166	D	RGD:9068941	20201015	RGD			PMID:17403873|REF_RGD_ID:39458043
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:11573	listeriosis		ISO	RGD:1552166	D	RGD:9068941	20201015	RGD			PMID:19923464|PMID:22966045|REF_RGD_ID:39457955|REF_RGD_ID:39457958
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:12053	cryptococcosis	severity	ISO	RGD:1552166	D	RGD:9068941	20201015	RGD			PMID:16393998|PMID:22342846|REF_RGD_ID:39457936|REF_RGD_ID:39458042
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:12140	Chagas disease	susceptibility	ISO	RGD:1552166	D	RGD:9068941	20201015	RGD			PMID:23182712|REF_RGD_ID:39457956
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:13272	Klebsiella pneumonia	severity	ISO	RGD:1552166	D	RGD:9068941	20201009	RGD			PMID:16157683|REF_RGD_ID:39457940
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	treatment	ISO	RGD:1552166	D	RGD:9068941	20260226	RGD			PMID:17198762|REF_RGD_ID:632518409
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:13622	campylobacteriosis		ISO	RGD:1552166	D	RGD:9068941	20201015	RGD			PMID:27322540|PMID:27385977|REF_RGD_ID:39457954|REF_RGD_ID:39458040
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:14262	oral candidiasis	severity	ISO	RGD:1552166	D	RGD:9068941	20201015	RGD			PMID:19204111|REF_RGD_ID:39457957
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:2123	tularemia		ISO	RGD:1552166	D	RGD:9068941	20201015	RGD			PMID:25296161|REF_RGD_ID:39458039
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:2841	asthma		ISO	RGD:731906	D	RGD:9068941	20260226	RGD		DNA:SNPs, haplotype: :-197G>A, -737C>T	PMID:35325374|REF_RGD_ID:632527146
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1552166	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung (mouse)	PMID:32364527|REF_RGD_ID:27226699
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1552166	D	RGD:9068941	20201015	RGD			PMID:16002675|PMID:20624887|REF_RGD_ID:39457949|REF_RGD_ID:39458036
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1552166	D	RGD:9068941	20201015	RGD		mRNA:increased expression:lung (mouse)	PMID:11801672|PMID:21156751|REF_RGD_ID:39457953|REF_RGD_ID:39458038
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:3310	atopic dermatitis		ISO	RGD:731906	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:33274957
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:731906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:731906	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19192274
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:8893	psoriasis		ISO	RGD:731906	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19169254|PMID:20953190|PMID:21348542
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:9000099	Experimental Colitis	severity	ISO	RGD:1552166	D	RGD:9068941	20201015	RGD		mRNA:increased expression:colon (mouse)	PMID:24028683|REF_RGD_ID:39458035
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:9000310	Lung Injury		ISO	RGD:1552166	D	RGD:9068941	20260207	RGD		mRNA:increased expression:lung	PMID:21858022|REF_RGD_ID:632518363
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:9001011	Bovine Tuberculosis		ISO	RGD:1552166	D	RGD:9068941	20201008	RGD			PMID:16923792|REF_RGD_ID:39457937
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:9002283	Experimental Allergic Asthma		ISO	RGD:1552166	D	RGD:9068941	20201015	RGD			PMID:19935773|PMID:26344076|REF_RGD_ID:11251537|REF_RGD_ID:5037240
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:9004422	Chagas Cardiomyopathy		ISO	RGD:1552166	D	RGD:9068941	20201008	RGD			PMID:28356392|REF_RGD_ID:39457935
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:9005106	Animal Toxoplasmosis		ISO	RGD:1552166	D	RGD:9068941	20201009	RGD			PMID:15265921|REF_RGD_ID:39457943
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8734119	Il23a	interleukin 23 subunit alpha	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:1552166	D	RGD:9068941	20201009	RGD			PMID:29078003|REF_RGD_ID:39457938
8734119	Il23a	interleukin 23, alpha subunit p19	gene	DOID:9001365	Amebic Liver Abscess		ISO	RGD:1552166	D	RGD:9068941	20201015	RGD			PMID:26809113|REF_RGD_ID:39458041
8734127	Krt82	keratin 82	gene	DOID:1115	sarcoma		ISO	RGD:1350237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8734127	Krt82	keratin 82	gene	DOID:5041	esophageal cancer		ISO	RGD:1350237	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8734140	Cfap52	cilia and flagella associated protein 52	gene	DOID:0051024	visceral heterotaxy 10		ISO	RGD:1348671	D	RGD:7240710	20211110	OMIM			
8734140	Cfap52	cilia and flagella associated protein 52	gene	DOID:0051024	visceral heterotaxy 10		ISO	RGD:1348671	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CFAP52-related condition | ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY | ClinVar Annotator: match by term: Heterotaxy, visceral, 10, autosomal, with male infertility	PMID:25741868|PMID:28492532
8734140	Cfap52	cilia and flagella associated protein 52	gene	DOID:1324	lung cancer		ISO	RGD:1348671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8734140	Cfap52	cilia and flagella associated protein 52	gene	DOID:4362	cervical cancer		ISO	RGD:1348671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8734140	Cfap52	cilia and flagella associated protein 52	gene	DOID:5041	esophageal cancer		ISO	RGD:1348671	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8734140	Cfap52	cilia and flagella associated protein 52	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734140	Cfap52	cilia and flagella associated protein 52	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:1348671	D	RGD:8554872	20250204	ClinVar		ClinVar Annotator: match by term: Situs inversus	PMID:16199547|PMID:25469542|PMID:25741868|PMID:28492532|PMID:33139725
8734140	Cfap52	cilia and flagella associated protein 52	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8734140	Cfap52	cilia and flagella associated protein 52	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8734140	Cfap52	cilia and flagella associated protein 52	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:10283	prostate cancer		ISO	RGD:1347365	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:10283	prostate cancer		ISO	RGD:1347365	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1347365	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADHD	
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:1115	sarcoma		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:12849	autistic disorder		ISO	RGD:1347365	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Autism	
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:1324	lung cancer		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:1909	melanoma		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:3070	high grade glioma		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:4362	cervical cancer		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347365	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8734164	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8734243	Znf414	zinc finger protein 414	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8734243	Znf414	zinc finger protein 414	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8734243	Znf414	zinc finger protein 414	gene	DOID:1909	melanoma		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8734243	Znf414	zinc finger protein 414	gene	DOID:3275	thymoma		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8734243	Znf414	zinc finger protein 414	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734243	Znf414	zinc finger protein 414	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8734243	Znf414	zinc finger protein 414	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8734243	Znf414	zinc finger protein 414	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8734258	Abt1	activator of basal transcription 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8734258	Abt1	activator of basal transcription 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734258	Abt1	activator of basal transcription 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1321888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8734258	Abt1	activator of basal transcription 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1321888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8734258	Abt1	activator of basal transcription 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8734258	Abt1	activator of basal transcription 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8734265	Sytl3	synaptotagmin like 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8734265	Sytl3	synaptotagmin like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8734265	Sytl3	synaptotagmin like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8734265	Sytl3	synaptotagmin like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8734265	Sytl3	synaptotagmin like 3	gene	DOID:1115	sarcoma		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8734265	Sytl3	synaptotagmin like 3	gene	DOID:1324	lung cancer		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8734265	Sytl3	synaptotagmin like 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8734265	Sytl3	synaptotagmin like 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8734265	Sytl3	synaptotagmin like 3	gene	DOID:4362	cervical cancer		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8734265	Sytl3	synaptotagmin like 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8734265	Sytl3	synaptotagmin like 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8734265	Sytl3	synaptotagmin like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734265	Sytl3	synaptotagmin like 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8734265	Sytl3	synaptotagmin like 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352944	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8734265	Sytl3	synaptotagmin like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8734265	Sytl3	synaptotagmin like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8734265	Sytl3	synaptotagmin like 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8734297	Siae	sialic acid acetylesterase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:17576681|PMID:28492532|PMID:9536098
8734297	Siae	sialic acid acetylesterase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8734297	Siae	sialic acid acetylesterase	gene	DOID:10534	stomach cancer		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8734297	Siae	sialic acid acetylesterase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
8734297	Siae	sialic acid acetylesterase	gene	DOID:417	autoimmune disease		ISO	RGD:1604014	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Autoimmune disease, susceptibility to, 6 | ClinVar Annotator: match by term: SIAE-related condition	PMID:20555325|PMID:22200769|PMID:22257840|PMID:23011869|PMID:23308225|PMID:25741868|PMID:28492532|PMID:28900629
8734297	Siae	sialic acid acetylesterase	gene	DOID:417	autoimmune disease	susceptibility	ISO	RGD:1604014	D	RGD:7240710	20190502	OMIM			
8734297	Siae	sialic acid acetylesterase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734297	Siae	sialic acid acetylesterase	gene	DOID:7998	hyperthyroidism		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:17576681|PMID:28492532|PMID:9536098
8734297	Siae	sialic acid acetylesterase	gene	DOID:824	periodontitis		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:17576681|PMID:28492532|PMID:9536098
8734297	Siae	sialic acid acetylesterase	gene	DOID:9001733	Tinnitus		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:17576681|PMID:28492532|PMID:9536098
8734297	Siae	sialic acid acetylesterase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8734297	Siae	sialic acid acetylesterase	gene	DOID:9007736	Vertigo		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:17576681|PMID:28492532|PMID:9536098
8734297	Siae	sialic acid acetylesterase	gene	DOID:9008421	Epistaxis		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:17576681|PMID:28492532|PMID:9536098
8734297	Siae	sialic acid acetylesterase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8734333	Btg3	BTG anti-proliferation factor 3	gene	DOID:13580	cholestasis		ISO	RGD:733952	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
8734333	Btg3	BTG anti-proliferation factor 3	gene	DOID:4450	renal cell carcinoma		ISO	RGD:733952	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19221000
8734333	Btg3	BTG anti-proliferation factor 3	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:733952	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8734345	Htatsf1	HIV-1 Tat specific factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8734345	Htatsf1	HIV-1 Tat specific factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1344524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8734345	Htatsf1	HIV-1 Tat specific factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734345	Htatsf1	HIV-1 Tat specific factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8734398	Etnk2	ethanolamine kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8734398	Etnk2	ethanolamine kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8734398	Etnk2	ethanolamine kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1313254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8734398	Etnk2	ethanolamine kinase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8734398	Etnk2	ethanolamine kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734398	Etnk2	ethanolamine kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8734398	Etnk2	ethanolamine kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8734411	Nrp2	neuropilin 2	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:732191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
8734411	Nrp2	neuropilin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8734411	Nrp2	neuropilin 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1551257	D	RGD:9068941	20220825	MouseDO			
8734411	Nrp2	neuropilin 2	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:732191	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	PMID:25741868
8734411	Nrp2	neuropilin 2	gene	DOID:10534	stomach cancer		ISO	RGD:732191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8734411	Nrp2	neuropilin 2	gene	DOID:10908	hydrocephalus		ISO	RGD:732191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
8734411	Nrp2	neuropilin 2	gene	DOID:1115	sarcoma		ISO	RGD:732191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8734411	Nrp2	neuropilin 2	gene	DOID:11832	visual epilepsy		ISO	RGD:732191	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:18657176
8734411	Nrp2	neuropilin 2	gene	DOID:12849	autistic disorder		ISO	RGD:732191	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17427189
8734411	Nrp2	neuropilin 2	gene	DOID:1324	lung cancer		ISO	RGD:732191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8734411	Nrp2	neuropilin 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8734411	Nrp2	neuropilin 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8734411	Nrp2	neuropilin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:732191	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8734411	Nrp2	neuropilin 2	gene	DOID:540	strabismus		ISO	RGD:732191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
8734411	Nrp2	neuropilin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734411	Nrp2	neuropilin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8734411	Nrp2	neuropilin 2	gene	DOID:630	genetic disease		ISO	RGD:732191	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8734411	Nrp2	neuropilin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8734411	Nrp2	neuropilin 2	gene	DOID:9007661	Dwarfism		ISO	RGD:732191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8734411	Nrp2	neuropilin 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8734411	Nrp2	neuropilin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8734411	Nrp2	neuropilin 2	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:732191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
8734411	Nrp2	neuropilin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8734439	Slc25a37	solute carrier family 25 member 37	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8734439	Slc25a37	solute carrier family 25 member 37	gene	DOID:1324	lung cancer		ISO	RGD:1605395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8734439	Slc25a37	solute carrier family 25 member 37	gene	DOID:1909	melanoma		ISO	RGD:1605395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8734439	Slc25a37	solute carrier family 25 member 37	gene	DOID:2355	anemia		ISO	RGD:1605395	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22253756
8734475	Amhr2	anti-Mullerian hormone receptor type 2	gene	DOID:0050791	persistent Mullerian duct syndrome		ISO	RGD:733276	D	RGD:7240710	20180130	OMIM			
8734475	Amhr2	anti-Mullerian hormone receptor type 2	gene	DOID:0050791	persistent Mullerian duct syndrome		ISO	RGD:733276	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMHR2-related condition | ClinVar Annotator: match by term: PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II | ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent oviduct syndrome | ClinVar Annotator: match by term: persistent Mullerian duct syndrome	PMID:11549681|PMID:12893352|PMID:19457927|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28528332|PMID:31291191|PMID:32961540|PMID:33025551|PMID:34480531|PMID:34810374|PMID:8872466
8734475	Amhr2	anti-Mullerian hormone receptor type 2	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:733276	D	RGD:8554872	20220927	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
8734475	Amhr2	anti-Mullerian hormone receptor type 2	gene	DOID:1324	lung cancer		ISO	RGD:733276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8734475	Amhr2	anti-Mullerian hormone receptor type 2	gene	DOID:1967	leiomyosarcoma		ISO	RGD:733276	D	RGD:9068941	20200609	RGD		protein:increased expression:myometrium	PMID:17988723|REF_RGD_ID:2315651
8734475	Amhr2	anti-Mullerian hormone receptor type 2	gene	DOID:3275	thymoma		ISO	RGD:733276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8734475	Amhr2	anti-Mullerian hormone receptor type 2	gene	DOID:4441	dysgerminoma		ISO	RGD:733276	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:17988723|REF_RGD_ID:2315651
8734475	Amhr2	anti-Mullerian hormone receptor type 2	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:733276	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
8734475	Amhr2	anti-Mullerian hormone receptor type 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733276	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
8734475	Amhr2	anti-Mullerian hormone receptor type 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734475	Amhr2	anti-Mullerian hormone receptor type 2	gene	DOID:630	genetic disease		ISO	RGD:733276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8734475	Amhr2	anti-Mullerian hormone receptor type 2	gene	DOID:9002739	Female Urogenital Diseases		ISO	RGD:733276	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16002989
8734475	Amhr2	anti-Mullerian hormone receptor type 2	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:733276	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:ovary	PMID:19424576|REF_RGD_ID:2315638
8734475	Amhr2	anti-Mullerian hormone receptor type 2	gene	DOID:9003766	46, XY Disorders of Sex Development		ISO	RGD:733276	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Male pseudohermaphroditism	PMID:25741868
8734475	Amhr2	anti-Mullerian hormone receptor type 2	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:733276	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:17988723|REF_RGD_ID:2315651
8734490	Cfap57	cilia and flagella associated protein 57	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8734490	Cfap57	cilia and flagella associated protein 57	gene	DOID:0070594	spermatogenic failure 95		ISO	RGD:1603569	D	RGD:7240710	20240821	OMIM			
8734490	Cfap57	cilia and flagella associated protein 57	gene	DOID:12336	male infertility		ISO	RGD:1619670	D	RGD:9068941	20231005	MouseDO			
8734490	Cfap57	cilia and flagella associated protein 57	gene	DOID:4362	cervical cancer		ISO	RGD:1603569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8734490	Cfap57	cilia and flagella associated protein 57	gene	DOID:9008934	Van der Woude Syndrome 2		ISO	RGD:1603569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Van der Woude syndrome 2	PMID:25741868
8734490	Cfap57	cilia and flagella associated protein 57	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8734527	Eif1ad	eukaryotic translation initiation factor 1A domain containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8734527	Eif1ad	eukaryotic translation initiation factor 1A domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8734527	Eif1ad	eukaryotic translation initiation factor 1A domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1601944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8734527	Eif1ad	eukaryotic translation initiation factor 1A domain containing	gene	DOID:1909	melanoma		ISO	RGD:1601944	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
8734527	Eif1ad	eukaryotic translation initiation factor 1A domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1601944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8734527	Eif1ad	eukaryotic translation initiation factor 1A domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734527	Eif1ad	eukaryotic translation initiation factor 1A domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8734527	Eif1ad	eukaryotic translation initiation factor 1A domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8734543	Psmb4	proteasome 20S subunit beta 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8734543	Psmb4	proteasome 20S subunit beta 4	gene	DOID:0050553	proteasome-associated autoinflammatory syndrome 1		ISO	RGD:1344491	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1	
8734543	Psmb4	proteasome 20S subunit beta 4	gene	DOID:0060916	proteosome-associated autoinflammatory syndrome 3		ISO	RGD:1344491	D	RGD:7240710	20190315	OMIM			
8734543	Psmb4	proteasome 20S subunit beta 4	gene	DOID:0060916	proteosome-associated autoinflammatory syndrome 3		ISO	RGD:1344491	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: PSMB4-related condition	PMID:25741868|PMID:26524591|PMID:28492532
8734543	Psmb4	proteasome 20S subunit beta 4	gene	DOID:10534	stomach cancer		ISO	RGD:1344491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8734543	Psmb4	proteasome 20S subunit beta 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8734543	Psmb4	proteasome 20S subunit beta 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8734543	Psmb4	proteasome 20S subunit beta 4	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1344491	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8734543	Psmb4	proteasome 20S subunit beta 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734543	Psmb4	proteasome 20S subunit beta 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8734543	Psmb4	proteasome 20S subunit beta 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8734543	Psmb4	proteasome 20S subunit beta 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8734543	Psmb4	proteasome 20S subunit beta 4	gene	DOID:9884	muscular dystrophy		ISO	RGD:1344491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868
8734556	Med29	mediator complex subunit 29	gene	DOID:10907	microcephaly		ISO	RGD:1351639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8734556	Med29	mediator complex subunit 29	gene	DOID:4362	cervical cancer		ISO	RGD:1351639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8734556	Med29	mediator complex subunit 29	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8734556	Med29	mediator complex subunit 29	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734556	Med29	mediator complex subunit 29	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1351639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonic seizure	PMID:25741868
8734565	Prss12	serine protease 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8734565	Prss12	serine protease 12	gene	DOID:0050587	trichotillomania		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trichotillomania	PMID:25741868
8734565	Prss12	serine protease 12	gene	DOID:0081177	autosomal recessive intellectual developmental disorder 1		ISO	RGD:733403	D	RGD:7240710	20180130	OMIM			
8734565	Prss12	serine protease 12	gene	DOID:0081177	autosomal recessive intellectual developmental disorder 1		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 1 | ClinVar Annotator: match by term: PRSS12-related condition	PMID:12459588|PMID:25741868|PMID:28492532
8734565	Prss12	serine protease 12	gene	DOID:10534	stomach cancer		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8734565	Prss12	serine protease 12	gene	DOID:1059	intellectual disability		ISO	RGD:733403	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8734565	Prss12	serine protease 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8734565	Prss12	serine protease 12	gene	DOID:1115	sarcoma		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8734565	Prss12	serine protease 12	gene	DOID:1324	lung cancer		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8734565	Prss12	serine protease 12	gene	DOID:1909	melanoma		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8734565	Prss12	serine protease 12	gene	DOID:2468	psychotic disorder		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:25741868
8734565	Prss12	serine protease 12	gene	DOID:2843	long QT syndrome		ISO	RGD:733403	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8734565	Prss12	serine protease 12	gene	DOID:3070	high grade glioma		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8734565	Prss12	serine protease 12	gene	DOID:4189	mutism		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mutism	PMID:25741868
8734565	Prss12	serine protease 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8734565	Prss12	serine protease 12	gene	DOID:9000727	Syncope		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:25741868
8734565	Prss12	serine protease 12	gene	DOID:9001276	Failure to Thrive		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25167861|PMID:25741868
8734565	Prss12	serine protease 12	gene	DOID:9003816	Macrocephaly		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
8734565	Prss12	serine protease 12	gene	DOID:9007661	Dwarfism		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8734565	Prss12	serine protease 12	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8734565	Prss12	serine protease 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8734565	Prss12	serine protease 12	gene	DOID:936	brain disease		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
8734565	Prss12	serine protease 12	gene	DOID:9970	obesity		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
8734583	Xbp1	X-box binding protein 1	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1332312	D	RGD:9068941	20220825	MouseDO			
8734583	Xbp1	X-box binding protein 1	gene	DOID:0060478	Zika fever		ISO	RGD:1332312	D	RGD:9068941	20200702	RGD		protein:increased expression:cerebellum, mesocephalon	PMID:30241539|REF_RGD_ID:32733625
8734583	Xbp1	X-box binding protein 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1352787	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24097666
8734583	Xbp1	X-box binding protein 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:1303073	D	RGD:9068941	20230720	RGD			PMID:26394137|REF_RGD_ID:329955565
8734583	Xbp1	X-box binding protein 1	gene	DOID:10603	glucose intolerance		ISO	RGD:1352787	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27325692
8734583	Xbp1	X-box binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1352787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8734583	Xbp1	X-box binding protein 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1352787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8734583	Xbp1	X-box binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1352787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8734583	Xbp1	X-box binding protein 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1352787	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:30661753
8734583	Xbp1	X-box binding protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1352787	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21138464
8734583	Xbp1	X-box binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8734583	Xbp1	X-box binding protein 1	gene	DOID:5154	borna disease		ISO	RGD:1303073	D	RGD:9068941	20200702	RGD		mRNA,protein:altered expression:cerebellum,hippocampus	PMID:16912310|REF_RGD_ID:32733622
8734583	Xbp1	X-box binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734583	Xbp1	X-box binding protein 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1352787	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29793971
8734583	Xbp1	X-box binding protein 1	gene	DOID:9000238	Acute-On-Chronic Liver Failure		ISO	RGD:1352787	D	RGD:9068941	20200702	RGD		mRNA, protein:decreased expression:liver	PMID:26234401|REF_RGD_ID:32716425
8734583	Xbp1	X-box binding protein 1	gene	DOID:9002488	Peritoneal Fibrosis	treatment	ISO	RGD:1303073	D	RGD:9068941	20200702	RGD			PMID:31836774|REF_RGD_ID:32733624
8734583	Xbp1	X-box binding protein 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1352787	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:30661753
8734583	Xbp1	X-box binding protein 1	gene	DOID:9006048	Major Affective Disorder 7		ISO	RGD:1352787	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Major affective disorder 7	
8734583	Xbp1	X-box binding protein 1	gene	DOID:9006048	Major Affective Disorder 7	susceptibility	ISO	RGD:1352787	D	RGD:7240710	20190502	OMIM			
8734583	Xbp1	X-box binding protein 1	gene	DOID:9006599	Hypertriglyceridemia	treatment	ISO	RGD:1303073	D	RGD:9068941	20230720	RGD			PMID:26394137|REF_RGD_ID:329955565
8734583	Xbp1	X-box binding protein 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1332312	D	RGD:9068941	20200609	RGD			PMID:15486293|REF_RGD_ID:2326004
8734583	Xbp1	X-box binding protein 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1352787	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27325692
8734583	Xbp1	X-box binding protein 1	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:1303073	D	RGD:9068941	20230720	RGD			PMID:26394137|REF_RGD_ID:329955565
8734583	Xbp1	X-box binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8734583	Xbp1	X-box binding protein 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:1352787	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24097666
8734591	Ascl3	achaete-scute family bHLH transcription factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:0070562	Fanconi-Bickel syndrome		ISO	RGD:730861	D	RGD:7240710	20240807	OMIM			
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:0070562	Fanconi-Bickel syndrome		ISO	RGD:730861	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogenosis Fanconi type	PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:22145468|PMID:22214819|PMID:22350464|PMID:22865906|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:25919556|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28116328|PMID:28492532|PMID:30950137|PMID:34669123|PMID:34828390|PMID:35738466|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8027028|PMID:8063045|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:0070562	Fanconi-Bickel syndrome		ISO	RGD:730861	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Fanconi-Bickel syndrome	PMID:10697967|PMID:10987651|PMID:11044475|PMID:11079206|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:22145468|PMID:22214819|PMID:22350464|PMID:22865906|PMID:23271022|PMID:23967202|PMID:23986439|PMID:24033266|PMID:24718840|PMID:24912437|PMID:25741868|PMID:25919556|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28116328|PMID:28492532|PMID:30950137|PMID:34669123|PMID:34828390|PMID:35738466|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8027028|PMID:8063045|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:0070562	Fanconi-Bickel syndrome		ISO	RGD:730861	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FANCONI-BICKEL SYNDROME | ClinVar Annotator: match by term: Fanconi-Bickel syndrome	PMID:10987651|PMID:11079206|PMID:11810292|PMID:16199547|PMID:17576681|PMID:22145468|PMID:22214819|PMID:22350464|PMID:22865906|PMID:23271022|PMID:23986439|PMID:24718840|PMID:24912437|PMID:25741868|PMID:25919556|PMID:27487919|PMID:28116328|PMID:28492532|PMID:30950137|PMID:34828390|PMID:35738466|PMID:9354798|PMID:9536098
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:0080074	neural tube defect		ISO	RGD:11306	D	RGD:9068941	20200609	RGD		associated with Hyperglycemia	PMID:17235524|REF_RGD_ID:2312360
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:730861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:11810292|PMID:25741868|PMID:28492532|PMID:35738466|PMID:9354798
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:730861	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:17636114|PMID:24033266|PMID:25741868|PMID:26495765|PMID:27035118|PMID:28492532|PMID:34669123
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:730861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:11810292|PMID:16199547|PMID:22145468|PMID:22865906|PMID:25741868|PMID:28492532|PMID:35738466|PMID:9354798
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:1062	Fanconi syndrome		ISO	RGD:730861	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogen storage disease XI	PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:22145468|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28492532|PMID:34669123|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:1062	Fanconi syndrome		ISO	RGD:730861	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Fanconi-Bickel syndrome	PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:22145468|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28492532|PMID:34669123|PMID:35738466|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:1062	Fanconi syndrome		ISO	RGD:730861	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogen storage disease XI	PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:21271664|PMID:22145468|PMID:22214819|PMID:22865906|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:25919556|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28492532|PMID:30950137|PMID:34669123|PMID:35738466|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8027028|PMID:8063045|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:1062	Fanconi syndrome		ISO	RGD:730861	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogen storage disease XI	PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:21271664|PMID:22145468|PMID:22214819|PMID:22865906|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:25919556|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28492532|PMID:30950137|PMID:34669123|PMID:34828390|PMID:35738466|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8027028|PMID:8063045|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:1062	Fanconi syndrome		ISO	RGD:730861	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogen storage disease XI	PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:21271664|PMID:22145468|PMID:22214819|PMID:22350464|PMID:22865906|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:25919556|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28116328|PMID:28492532|PMID:30950137|PMID:34669123|PMID:34828390|PMID:35738466|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8027028|PMID:8063045|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:1062	Fanconi syndrome		ISO	RGD:730861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pseudo-Phlorizin diabetes	PMID:25741868|PMID:28492532
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:2747	glycogen storage disease		ISO	RGD:730861	D	RGD:9068941	20200609	RGD		Fanconi-Bickel syndrome,OMIM:227810;DNA:point mutation:exon:p.R365X (human)	PMID:9354798|REF_RGD_ID:1624253
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:2843	long QT syndrome		ISO	RGD:730861	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	PMID:11810292|PMID:25741868|PMID:28492532|PMID:35738466|PMID:9354798
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:3070	high grade glioma		ISO	RGD:730861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:11810292|PMID:25741868|PMID:28492532|PMID:35738466|PMID:9354798
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:11306	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreatic duct	PMID:19252908|REF_RGD_ID:2324975
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:3892	insulinoma		ISO	RGD:730861	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:pancreatic islet	PMID:8421107|REF_RGD_ID:2324977
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:3892	insulinoma		ISO	RGD:730861	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreatic B cell	PMID:12114701|REF_RGD_ID:2324976
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:5577	gastrinoma		ISO	RGD:730861	D	RGD:9068941	20200609	RGD			PMID:12114701|REF_RGD_ID:2324976
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:5577	gastrinoma		ISO	RGD:730861	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:pancreatic islet	PMID:8421107|REF_RGD_ID:2324977
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:630	genetic disease		ISO	RGD:730861	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8364915
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:3705	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver	PMID:9886959|REF_RGD_ID:12879480
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:9004730	Romano-Ward Syndrome		ISO	RGD:730861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:11810292|PMID:25741868|PMID:28492532|PMID:35738466|PMID:9354798
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3705	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:19433262|REF_RGD_ID:2312358
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:730861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:9007821	Glucagonoma		ISO	RGD:730861	D	RGD:9068941	20200609	RGD			PMID:12114701|REF_RGD_ID:2324976
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:9007821	Glucagonoma		ISO	RGD:730861	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:pancreatic islet	PMID:8421107|REF_RGD_ID:2324977
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19579870
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:9351	diabetes mellitus		ISO	RGD:730861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:25741868|PMID:28492532|PMID:8027028|PMID:8063045
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730861	D	RGD:7240710	20180130	OMIM			
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus	PMID:11810292|PMID:16199547|PMID:22145468|PMID:22865906|PMID:25741868|PMID:28492532|PMID:35738466|PMID:9354798
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:730861	D	RGD:9068941	20200609	RGD		DNA:SNPs (human)	PMID:17636114|REF_RGD_ID:2312359
8734597	Slc2a2	solute carrier family 2 member 2	gene	DOID:9452	steatotic liver disease		ISO	RGD:730861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12048068
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:0060058	lymphoma		ISO	RGD:732757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:732757	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:15564794|REF_RGD_ID:2292561
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:732757	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:0080365	endometrial hyperplasia		ISO	RGD:732757	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:15536334|REF_RGD_ID:2292562
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:10283	prostate cancer		ISO	RGD:732757	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:12242727|REF_RGD_ID:2292570
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:10763	hypertension		ISO	RGD:3443	D	RGD:9068941	20200609	RGD			PMID:12732587|REF_RGD_ID:729831
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:10763	hypertension		ISO	RGD:3443	D	RGD:9068941	20200609	RGD		protein:increased expression:aorta	PMID:21068519|REF_RGD_ID:10041072
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:10952	nephritis	treatment	ISO	RGD:3443	D	RGD:9068941	20200609	RGD			PMID:25176084|REF_RGD_ID:10041073
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:127	leiomyoma		ISO	RGD:732757	D	RGD:9068941	20200609	RGD			PMID:12517589|REF_RGD_ID:2292569
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:12849	autistic disorder		ISO	RGD:732757	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:732757	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:21401805|PMID:25199511
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:2871	endometrial carcinoma	severity	ISO	RGD:732757	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:15536334|REF_RGD_ID:2292562
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:289	endometriosis		ISO	RGD:732757	D	RGD:9068941	20200609	RGD			PMID:17543958|REF_RGD_ID:2292555
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:2893	cervix carcinoma		ISO	RGD:732757	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:cervix	PMID:14675348|REF_RGD_ID:2292568
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:3068	glioblastoma		ISO	RGD:732757	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12811834
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:326	ischemia		ISO	RGD:3443	D	RGD:9068941	20200609	RGD		protein:decreased tyrosine phosphorylation:kidney	PMID:17620366|REF_RGD_ID:2292577
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:3275	thymoma		ISO	RGD:732757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:3907	lung squamous cell carcinoma	severity	ISO	RGD:732757	D	RGD:9068941	20220512	RGD			PMID:23906871|REF_RGD_ID:152176664
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:4001	ovarian carcinoma		ISO	RGD:732757	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:10526262|REF_RGD_ID:2292572
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:4001	ovarian carcinoma		ISO	RGD:732757	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:ovary	PMID:15455382|REF_RGD_ID:2292563
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:732757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:4362	cervical cancer	disease_progression	ISO	RGD:732757	D	RGD:9068941	20200609	RGD			PMID:16638855|REF_RGD_ID:2292556
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:4676	uremia		ISO	RGD:3443	D	RGD:9068941	20200609	RGD		protein:increased expression:parathyroid gland	PMID:17514628|REF_RGD_ID:2292579
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:732757	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:732757	D	RGD:9068941	20200609	RGD		DNA:CNV::	PMID:20802517|REF_RGD_ID:13825141
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:5409	lung small cell carcinoma	disease_progression	ISO	RGD:732757	D	RGD:9068941	20200609	RGD			PMID:21800286|REF_RGD_ID:13825133
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:732757	D	RGD:9068941	20200609	RGD			PMID:16244766|REF_RGD_ID:1581290
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:732757	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12833524
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:732757	D	RGD:9068941	20220512	RGD		associated with  lung squamous cell carcinoma; protein:increased tyrosine phosphorylation:lymph node	PMID:23906871|REF_RGD_ID:152176664
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:3443	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Experimental	PMID:15930288|REF_RGD_ID:2292560
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:732758	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Experimental	PMID:16547501|REF_RGD_ID:2292557
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3443	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver	PMID:15378782|REF_RGD_ID:2292604
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3443	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:kidney	PMID:17620366|REF_RGD_ID:2292577
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:732757	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:12811834|PMID:25199511
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:3443	D	RGD:9068941	20200609	RGD		associated with Hypertension;protein:increased expression, increased serine and tyrosine phosphorylation:ventricle myocardium	PMID:12732587|REF_RGD_ID:729831
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:3443	D	RGD:9068941	20200609	RGD			PMID:15930288|REF_RGD_ID:2292560
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:732757	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24809783
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:9005233	Experimental Mammary Neoplasms	disease_progression	ISO	RGD:732758	D	RGD:9068941	20200609	RGD			PMID:18056629|REF_RGD_ID:2292554
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:3443	D	RGD:9068941	20200609	RGD		associated with Hypertension, Pulmonary;protein:increased phosphorylation:ventricle myocardium	PMID:17913382|REF_RGD_ID:5130174
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:732757	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25199511
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:732757	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23804419
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732757	D	RGD:9068941	20200609	RGD		DNA:amplification	PMID:16457699|REF_RGD_ID:2292558
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732757	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:16136050|REF_RGD_ID:2292559
8734614	Ptk2	protein tyrosine kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8734673	Znf75a	zinc finger protein 75a	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8734673	Znf75a	zinc finger protein 75a	gene	DOID:1909	melanoma		ISO	RGD:1346975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8734673	Znf75a	zinc finger protein 75a	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734707	Ptges	prostaglandin E synthase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:69032	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8734707	Ptges	prostaglandin E synthase	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:69032	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:16353170|REF_RGD_ID:2300083
8734707	Ptges	prostaglandin E synthase	gene	DOID:11111	hydronephrosis		ISO	RGD:69032	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22430074|PMID:25015655
8734707	Ptges	prostaglandin E synthase	gene	DOID:11624	penile benign neoplasm		ISO	RGD:69032	D	RGD:9068941	20200609	RGD		protein:increased expression:penis, skin	PMID:14871981|REF_RGD_ID:2300087
8734707	Ptges	prostaglandin E synthase	gene	DOID:13976	peptic esophagitis		ISO	RGD:62076	D	RGD:9068941	20200609	RGD		protein:increased expression:esophagus	PMID:16210398|REF_RGD_ID:2300085
8734707	Ptges	prostaglandin E synthase	gene	DOID:2152	ovary epithelial cancer		ISO	RGD:69032	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:17107625|REF_RGD_ID:2300080
8734707	Ptges	prostaglandin E synthase	gene	DOID:2615	papilloma		ISO	RGD:62076	D	RGD:9068941	20200609	RGD		mRNA:increased expression:urinary bladder	PMID:16621493|REF_RGD_ID:1642457
8734707	Ptges	prostaglandin E synthase	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:62076	D	RGD:9068941	20200609	RGD		mRNA:increased expression:urinary bladder	PMID:16621493|REF_RGD_ID:1642457
8734707	Ptges	prostaglandin E synthase	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:69032	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder	PMID:14499677|REF_RGD_ID:2300088
8734707	Ptges	prostaglandin E synthase	gene	DOID:2870	endometrial adenocarcinoma		ISO	RGD:69032	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:11592775|REF_RGD_ID:2300089
8734707	Ptges	prostaglandin E synthase	gene	DOID:289	endometriosis		ISO	RGD:69032	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:epithelial cell	PMID:17295901|REF_RGD_ID:2300079
8734707	Ptges	prostaglandin E synthase	gene	DOID:326	ischemia		ISO	RGD:62076	D	RGD:9068941	20200609	RGD			PMID:12431630|REF_RGD_ID:2300116
8734707	Ptges	prostaglandin E synthase	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:69032	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:20592629|REF_RGD_ID:5135302
8734707	Ptges	prostaglandin E synthase	gene	DOID:4362	cervical cancer		ISO	RGD:69032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8734707	Ptges	prostaglandin E synthase	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:62076	D	RGD:9068941	20260409	RGD		mRNA, protein:increased expression:esophagus	PMID:22165968|REF_RGD_ID:5687745
8734707	Ptges	prostaglandin E synthase	gene	DOID:8719	in situ carcinoma		ISO	RGD:69032	D	RGD:9068941	20200609	RGD		protein:increased expression:penis, skin	PMID:14871981|REF_RGD_ID:2300087
8734707	Ptges	prostaglandin E synthase	gene	DOID:8719	in situ carcinoma		ISO	RGD:69032	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder	PMID:14499677|REF_RGD_ID:2300088
8734707	Ptges	prostaglandin E synthase	gene	DOID:9000972	Fever		ISO	RGD:69032	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25164664
8734707	Ptges	prostaglandin E synthase	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:62076	D	RGD:9068941	20200609	RGD			PMID:17530714|REF_RGD_ID:2300093
8734707	Ptges	prostaglandin E synthase	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:62076	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:paw	PMID:12707354|REF_RGD_ID:2300108
8734707	Ptges	prostaglandin E synthase	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:62076	D	RGD:9068941	20200609	RGD			PMID:12431630|REF_RGD_ID:2300116
8734707	Ptges	prostaglandin E synthase	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:62368	D	RGD:9068941	20200609	RGD			PMID:16864802|REF_RGD_ID:2300094
8734707	Ptges	prostaglandin E synthase	gene	DOID:9005274	Polyuria		ISO	RGD:69032	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19692487
8734707	Ptges	prostaglandin E synthase	gene	DOID:9005372	Inflammation		ISO	RGD:62076	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain, paw, spinal cord	PMID:15044444|REF_RGD_ID:2300106
8734707	Ptges	prostaglandin E synthase	gene	DOID:9005372	Inflammation		ISO	RGD:69032	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25314295
8734707	Ptges	prostaglandin E synthase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69032	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:16353170|REF_RGD_ID:2300083
8734707	Ptges	prostaglandin E synthase	gene	DOID:9206	Barrett's esophagus		ISO	RGD:62076	D	RGD:9068941	20200609	RGD		mRNA:increased expression:esophagus	PMID:14684572|REF_RGD_ID:2300107
8734711	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8734711	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8734711	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1343110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28314734
8734711	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:10126	keratoconus		ISO	RGD:1343110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23291589
8734711	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:10534	stomach cancer		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8734711	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:1067	open-angle glaucoma		ISO	RGD:1343110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23291589
8734711	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8734711	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:1115	sarcoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8734711	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:1324	lung cancer		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8734711	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:1909	melanoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8734711	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8734711	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8734711	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:4362	cervical cancer		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8734711	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:4586	familial meningioma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial meningioma	PMID:25741868
8734711	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:5041	esophageal cancer		ISO	RGD:1343110	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8734711	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8734711	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734711	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8734711	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1343110	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:31557154
8734711	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8734711	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8734750	Lrrc4c	leucine rich repeat containing 4C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8734750	Lrrc4c	leucine rich repeat containing 4C	gene	DOID:5041	esophageal cancer		ISO	RGD:1605967	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8734776	Tmem88	transmembrane protein 88	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8734782	Mief1	mitochondrial elongation factor 1	gene	DOID:5723	optic atrophy		ISO	RGD:1604008	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8734782	Mief1	mitochondrial elongation factor 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1604008	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:29177109
8734782	Mief1	mitochondrial elongation factor 1	gene	DOID:9009065	Optic Atrophy 14		ISO	RGD:1604008	D	RGD:7240710	20231101	OMIM			
8734782	Mief1	mitochondrial elongation factor 1	gene	DOID:9009065	Optic Atrophy 14		ISO	RGD:1604008	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OPTIC ATROPHY 14	
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:0060249	scoliosis		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:14564667|PMID:19414485|PMID:28492532
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:0060599	Nance-Horan syndrome		ISO	RGD:1352036	D	RGD:7240710	20180130	OMIM			
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:0060599	Nance-Horan syndrome		ISO	RGD:1352036	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NANCE-HORAN SYNDROME | ClinVar Annotator: match by term: NHS-related condition | ClinVar Annotator: match by term: Nance-Horan syndrome	PMID:14564667|PMID:15466011|PMID:15623749|PMID:16199547|PMID:16736028|PMID:17256798|PMID:17576681|PMID:18018428|PMID:18949062|PMID:19414485|PMID:20882036|PMID:25640679|PMID:25741868|PMID:26633542|PMID:27148795|PMID:27159028|PMID:28492532|PMID:28557584|PMID:29611406|PMID:30642278|PMID:9536098
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:0110272	cataract 40		ISO	RGD:1352036	D	RGD:7240710	20180130	OMIM			
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:0110272	cataract 40		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract 40	PMID:25741868
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:14564667|PMID:19414485|PMID:28492532
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:0111806	syndromic microphthalmia 5		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome	PMID:31690835
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:10283	prostate cancer		ISO	RGD:1352036	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	PMID:28492532
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:1059	intellectual disability		ISO	RGD:1352036	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:10629	microphthalmia		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:14564667|PMID:19414485|PMID:28492532
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:14564667|PMID:19414485|PMID:28492532
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:1115	sarcoma		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:14564667|PMID:19414485|PMID:28492532
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:1686	glaucoma		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	PMID:14564667|PMID:19414485|PMID:28492532
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:3326	purpura		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Petechiae	PMID:14564667|PMID:19414485|PMID:28492532
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:630	genetic disease		ISO	RGD:1352036	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:14564667|PMID:19414485|PMID:25741868|PMID:28492532
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:9003137	Photophobia		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Photophobia	PMID:14564667|PMID:19414485|PMID:28492532
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:9003591	Telecanthus		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:9003816	Macrocephaly		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:14564667|PMID:19414485|PMID:28492532
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:14564667|PMID:19414485|PMID:28492532
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:9256	colorectal cancer		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8734796	Nhs	NHS actin remodeling regulator	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:14564667|PMID:19414485|PMID:28492532
8734819	Pde4a	phosphodiesterase 4A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8734819	Pde4a	phosphodiesterase 4A	gene	DOID:11077	brucellosis		ISO	RGD:3279	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:spleen	PMID:17397885|REF_RGD_ID:2302429
8734819	Pde4a	phosphodiesterase 4A	gene	DOID:1115	sarcoma		ISO	RGD:737080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8734819	Pde4a	phosphodiesterase 4A	gene	DOID:12849	autistic disorder		ISO	RGD:737080	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18090323
8734819	Pde4a	phosphodiesterase 4A	gene	DOID:1324	lung cancer		ISO	RGD:737080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8734819	Pde4a	phosphodiesterase 4A	gene	DOID:4362	cervical cancer		ISO	RGD:737080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8734819	Pde4a	phosphodiesterase 4A	gene	DOID:5041	esophageal cancer		ISO	RGD:737080	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8734819	Pde4a	phosphodiesterase 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734819	Pde4a	phosphodiesterase 4A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8734819	Pde4a	phosphodiesterase 4A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8734819	Pde4a	phosphodiesterase 4A	gene	DOID:9007090	Experimental Seizures		ISO	RGD:3279	D	RGD:9068941	20241214	RGD			PMID:16190900|REF_RGD_ID:2302430
8734819	Pde4a	phosphodiesterase 4A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8734819	Pde4a	phosphodiesterase 4A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8734849	Nlgn1	neuroligin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8734849	Nlgn1	neuroligin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8734849	Nlgn1	neuroligin 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736454	D	RGD:9068941	20220825	MouseDO			
8734849	Nlgn1	neuroligin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8734849	Nlgn1	neuroligin 1	gene	DOID:12849	autistic disorder		ISO	RGD:736453	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AUTISM, SUSCEPTIBILITY TO, 20 | ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 20 | ClinVar Annotator: match by term: NLGN1-related condition	PMID:25741868|PMID:28492532
8734849	Nlgn1	neuroligin 1	gene	DOID:12849	autistic disorder	susceptibility	ISO	RGD:736453	D	RGD:7240710	20240214	OMIM			
8734849	Nlgn1	neuroligin 1	gene	DOID:1324	lung cancer		ISO	RGD:736453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8734849	Nlgn1	neuroligin 1	gene	DOID:1824	status epilepticus		ISO	RGD:621117	D	RGD:9068941	20200609	RGD			PMID:22539981|REF_RGD_ID:9831126
8734849	Nlgn1	neuroligin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8734849	Nlgn1	neuroligin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8734849	Nlgn1	neuroligin 1	gene	DOID:630	genetic disease		ISO	RGD:736453	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8734849	Nlgn1	neuroligin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8734870	Sdc2	syndecan 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8734870	Sdc2	syndecan 2	gene	DOID:1909	melanoma		ISO	RGD:734386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8734870	Sdc2	syndecan 2	gene	DOID:3275	thymoma		ISO	RGD:734386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8734870	Sdc2	syndecan 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734870	Sdc2	syndecan 2	gene	DOID:674	cleft palate		ISO	RGD:734386	D	RGD:9068941	20200609	RGD			PMID:18716610|REF_RGD_ID:12798509
8734870	Sdc2	syndecan 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8734870	Sdc2	syndecan 2	gene	DOID:9296	cleft lip		ISO	RGD:734386	D	RGD:9068941	20200609	RGD			PMID:18716610|REF_RGD_ID:12798509
8734870	Sdc2	syndecan 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:734386	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:14976204|REF_RGD_ID:2311706
8734881	Pik3ip1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8734881	Pik3ip1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8734881	Pik3ip1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8734881	Pik3ip1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8734881	Pik3ip1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8734881	Pik3ip1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734881	Pik3ip1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8734881	Pik3ip1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8734881	Pik3ip1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:9775	diastolic heart failure		ISO	RGD:1605305	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
8734899	Hrh2	histamine receptor H2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8734899	Hrh2	histamine receptor H2	gene	DOID:0060001	withdrawal disorder		ISO	RGD:735725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8870037
8734899	Hrh2	histamine receptor H2	gene	DOID:10763	hypertension		ISO	RGD:735725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30310171
8734899	Hrh2	histamine receptor H2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:2831	D	RGD:9068941	20200609	RGD		protein:decreased expression:caudate putamen (rat)	PMID:16181737|REF_RGD_ID:9685533
8734899	Hrh2	histamine receptor H2	gene	DOID:2661	myoepithelioma		ISO	RGD:735725	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8734899	Hrh2	histamine receptor H2	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:735725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:6224980
8734899	Hrh2	histamine receptor H2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8734899	Hrh2	histamine receptor H2	gene	DOID:4248	coronary stenosis		ISO	RGD:735725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12721106
8734899	Hrh2	histamine receptor H2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734899	Hrh2	histamine receptor H2	gene	DOID:6000	congestive heart failure	susceptibility	ISO	RGD:10732	D	RGD:9068941	20200609	RGD			PMID:24655024|REF_RGD_ID:9685523
8734899	Hrh2	histamine receptor H2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:735725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:6224980
8734899	Hrh2	histamine receptor H2	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:735725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:6224980
8734899	Hrh2	histamine receptor H2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:735725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30310171
8734899	Hrh2	histamine receptor H2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:735725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22926047
8734899	Hrh2	histamine receptor H2	gene	DOID:9007838	Myocardial Reperfusion Injury	susceptibility	ISO	RGD:10732	D	RGD:9068941	20200609	RGD			PMID:23467745|REF_RGD_ID:9685524
8734899	Hrh2	histamine receptor H2	gene	DOID:9256	colorectal cancer		ISO	RGD:735725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8734916	Itpkc	inositol-trisphosphate 3-kinase C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8734916	Itpkc	inositol-trisphosphate 3-kinase C	gene	DOID:1324	lung cancer		ISO	RGD:1345351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8734916	Itpkc	inositol-trisphosphate 3-kinase C	gene	DOID:13378	Kawasaki disease		ISO	RGD:1345351	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18084290
8734916	Itpkc	inositol-trisphosphate 3-kinase C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8734916	Itpkc	inositol-trisphosphate 3-kinase C	gene	DOID:3275	thymoma		ISO	RGD:1345351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8734916	Itpkc	inositol-trisphosphate 3-kinase C	gene	DOID:3362	coronary aneurysm		ISO	RGD:1345351	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18084290
8734916	Itpkc	inositol-trisphosphate 3-kinase C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8734916	Itpkc	inositol-trisphosphate 3-kinase C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8734916	Itpkc	inositol-trisphosphate 3-kinase C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734916	Itpkc	inositol-trisphosphate 3-kinase C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8734916	Itpkc	inositol-trisphosphate 3-kinase C	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1345351	D	RGD:9068941	20220617	RGD		DNA:SNP:intron: (rs2607420) (human)	PMID:33470690|REF_RGD_ID:152995405
8734928	Kiaa1549	KIAA1549 ortholog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8734928	Kiaa1549	KIAA1549 ortholog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8734928	Kiaa1549	KIAA1549 ortholog	gene	DOID:0112143	retinitis pigmentosa 86		ISO	RGD:2292705	D	RGD:7240710	20191030	OMIM			
8734928	Kiaa1549	KIAA1549 ortholog	gene	DOID:0112143	retinitis pigmentosa 86		ISO	RGD:2292705	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: KIAA1549-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 86 | ClinVar Annotator: match by term: Retinitis pigmentosa 86	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30120214|PMID:9536098
8734928	Kiaa1549	KIAA1549 ortholog	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	
8734928	Kiaa1549	KIAA1549 ortholog	gene	DOID:1909	melanoma		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8734928	Kiaa1549	KIAA1549 ortholog	gene	DOID:3069	malignant astrocytoma		ISO	RGD:2292705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23817572
8734928	Kiaa1549	KIAA1549 ortholog	gene	DOID:3070	high grade glioma		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8734928	Kiaa1549	KIAA1549 ortholog	gene	DOID:4362	cervical cancer		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8734928	Kiaa1549	KIAA1549 ortholog	gene	DOID:5041	esophageal cancer		ISO	RGD:2292705	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8734928	Kiaa1549	KIAA1549 ortholog	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8734928	Kiaa1549	KIAA1549 ortholog	gene	DOID:5723	optic atrophy		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8734928	Kiaa1549	KIAA1549 ortholog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734928	Kiaa1549	KIAA1549 ortholog	gene	DOID:630	genetic disease		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8734928	Kiaa1549	KIAA1549 ortholog	gene	DOID:8501	fundus dystrophy		ISO	RGD:2292705	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
8734928	Kiaa1549	KIAA1549 ortholog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8734928	Kiaa1549	KIAA1549 ortholog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8734928	Kiaa1549	KIAA1549 ortholog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8734951	Zdhhc2	zDHHC palmitoyltransferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8734951	Zdhhc2	zDHHC palmitoyltransferase 2	gene	DOID:0060058	lymphoma		ISO	RGD:736613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8734951	Zdhhc2	zDHHC palmitoyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:736613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8734951	Zdhhc2	zDHHC palmitoyltransferase 2	gene	DOID:1909	melanoma		ISO	RGD:736613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8734951	Zdhhc2	zDHHC palmitoyltransferase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8734951	Zdhhc2	zDHHC palmitoyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734951	Zdhhc2	zDHHC palmitoyltransferase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8734951	Zdhhc2	zDHHC palmitoyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8734951	Zdhhc2	zDHHC palmitoyltransferase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736613	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8734951	Zdhhc2	zDHHC palmitoyltransferase 2	gene	DOID:9004657	Weight Gain		ISO	RGD:736613	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8734951	Zdhhc2	zDHHC palmitoyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8734951	Zdhhc2	zDHHC palmitoyltransferase 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:736613	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25058030|PMID:28108177
8734951	Zdhhc2	zDHHC palmitoyltransferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8734967	Cnbp	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:0050759	myotonic dystrophy type 2		ISO	RGD:733498	D	RGD:7240710	20190315	OMIM			
8734967	Cnbp	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:0050759	myotonic dystrophy type 2		ISO	RGD:733498	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myotonic dystrophy type 2	PMID:25741868
8734967	Cnbp	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:733498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8734967	Cnbp	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8734967	Cnbp	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:733498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8734967	Cnbp	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:450	myotonic disease		ISO	RGD:733498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8734967	Cnbp	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:630	genetic disease		ISO	RGD:733498	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8734967	Cnbp	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8734967	Cnbp	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8734967	Cnbp	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:733498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8734967	Cnbp	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8734967	Cnbp	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8734984	N4bp2l1	NEDD4 binding protein 2 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8734984	N4bp2l1	NEDD4 binding protein 2 like 1	gene	DOID:3275	thymoma		ISO	RGD:1604555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8734984	N4bp2l1	NEDD4 binding protein 2 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734997	Zbtb16	zinc finger and BTB domain containing 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8734997	Zbtb16	zinc finger and BTB domain containing 16	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1352454	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23208507
8734997	Zbtb16	zinc finger and BTB domain containing 16	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1352454	D	RGD:9068941	20200609	RGD			PMID:8387545|REF_RGD_ID:1599922
8734997	Zbtb16	zinc finger and BTB domain containing 16	gene	DOID:0080700	caudal regression syndrome		ISO	RGD:727921	D	RGD:9068941	20210226	RGD			PMID:27727328|REF_RGD_ID:40924666
8734997	Zbtb16	zinc finger and BTB domain containing 16	gene	DOID:1148	polydactyly		ISO	RGD:727921	D	RGD:9068941	20200609	RGD		DNA:deletion:intron (rat)	PMID:19191224|REF_RGD_ID:2312786
8734997	Zbtb16	zinc finger and BTB domain containing 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8734997	Zbtb16	zinc finger and BTB domain containing 16	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1352454	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24763052
8734997	Zbtb16	zinc finger and BTB domain containing 16	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1352454	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26213588
8734997	Zbtb16	zinc finger and BTB domain containing 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8734997	Zbtb16	zinc finger and BTB domain containing 16	gene	DOID:9007200	acute promyelocytic leukemia with PLZF/RARA		ISO	RGD:1352454	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: ZBTB16-related condition	PMID:28492532
8734997	Zbtb16	zinc finger and BTB domain containing 16	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8735023	Sell	selectin L	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8735023	Sell	selectin L	gene	DOID:0051061	stroke	susceptibility	ISO	RGD:1342543	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.P213S (human)	PMID:21465128|REF_RGD_ID:5685695
8735023	Sell	selectin L	gene	DOID:0060180	colitis		ISO	RGD:3655	D	RGD:9068941	20200609	RGD			PMID:18054560|REF_RGD_ID:5685703
8735023	Sell	selectin L	gene	DOID:0080162	lupus nephritis		ISO	RGD:737030	D	RGD:9068941	20200609	RGD			PMID:20512127|REF_RGD_ID:7175284
8735023	Sell	selectin L	gene	DOID:0080600	COVID-19		ISO	RGD:1342543	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8735023	Sell	selectin L	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:1342543	D	RGD:9068941	20200609	RGD			PMID:21635226|REF_RGD_ID:5685693
8735023	Sell	selectin L	gene	DOID:10652	Alzheimer's disease	severity	ISO	RGD:1342543	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:21484243|REF_RGD_ID:5685677
8735023	Sell	selectin L	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1342543	D	RGD:9068941	20250116	RGD		protein:increased expression:serum:	PMID:11280567|REF_RGD_ID:597000690
8735023	Sell	selectin L	gene	DOID:12351	alcoholic hepatitis		ISO	RGD:3655	D	RGD:9068941	20250116	RGD		mRNA:increased expression:liver	PMID:9835285|REF_RGD_ID:597015743
8735023	Sell	selectin L	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:1342543	D	RGD:9068941	20250116	RGD			PMID:10782906|REF_RGD_ID:597015742
8735023	Sell	selectin L	gene	DOID:14115	toxic shock syndrome		ISO	RGD:3655	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19375498|REF_RGD_ID:5685700
8735023	Sell	selectin L	gene	DOID:1574	alcohol use disorder		ISO	RGD:1342543	D	RGD:9068941	20250116	RGD		protein:decreased expression:Tcell	PMID:7573774|REF_RGD_ID:597015763
8735023	Sell	selectin L	gene	DOID:1936	atherosclerosis		ISO	RGD:737030	D	RGD:9068941	20200609	RGD			PMID:21760899|REF_RGD_ID:5685675
8735023	Sell	selectin L	gene	DOID:2237	hepatitis	ameliorates	ISO	RGD:3655	D	RGD:9068941	20250116	RGD			PMID:7534512|REF_RGD_ID:597015757
8735023	Sell	selectin L	gene	DOID:2773	contact dermatitis		ISO	RGD:737030	D	RGD:9068941	20200609	RGD			PMID:20182448|REF_RGD_ID:5685684
8735023	Sell	selectin L	gene	DOID:2841	asthma		ISO	RGD:737030	D	RGD:9068941	20200609	RGD			PMID:21437035|PMID:21515793|REF_RGD_ID:5685685|REF_RGD_ID:5685696
8735023	Sell	selectin L	gene	DOID:289	endometriosis		ISO	RGD:3655	D	RGD:9068941	20200609	RGD		mRNA:increased expression:endometrium	PMID:17845203|REF_RGD_ID:2303708
8735023	Sell	selectin L	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1342543	D	RGD:9068941	20200609	RGD			PMID:11828340|PMID:17452405|REF_RGD_ID:1625253|REF_RGD_ID:7175290
8735023	Sell	selectin L	gene	DOID:341	peripheral vascular disease		ISO	RGD:3655	D	RGD:9068941	20200609	RGD			PMID:17924279|REF_RGD_ID:2316357
8735023	Sell	selectin L	gene	DOID:4989	pancreatitis		ISO	RGD:3655	D	RGD:9068941	20200609	RGD			PMID:16214426|REF_RGD_ID:5685705
8735023	Sell	selectin L	gene	DOID:5199	ureteral obstruction	ameliorates	ISO	RGD:3655	D	RGD:9068941	20250116	RGD			PMID:10398147|REF_RGD_ID:597015755
8735023	Sell	selectin L	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735023	Sell	selectin L	gene	DOID:5844	myocardial infarction		ISO	RGD:1342543	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10070497
8735023	Sell	selectin L	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8735023	Sell	selectin L	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8735023	Sell	selectin L	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:3655	D	RGD:9068941	20200609	RGD			PMID:15998669|REF_RGD_ID:5685707
8735023	Sell	selectin L	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:737030	D	RGD:9068941	20200609	RGD			PMID:15998669|REF_RGD_ID:5685707
8735023	Sell	selectin L	gene	DOID:783	end stage renal disease	no_association	ISO	RGD:1342543	D	RGD:9068941	20200609	RGD			PMID:22119815|REF_RGD_ID:7175303
8735023	Sell	selectin L	gene	DOID:8577	ulcerative colitis		ISO	RGD:1342543	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.F206L (human)	PMID:19212205|REF_RGD_ID:13464267
8735023	Sell	selectin L	gene	DOID:8778	Crohn's disease		ISO	RGD:1342543	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.F206L (human)	PMID:19212205|REF_RGD_ID:13464267
8735023	Sell	selectin L	gene	DOID:9000352	Vascular System Injuries	ameliorates	ISO	RGD:3655	D	RGD:9068941	20250116	RGD			PMID:1717513|REF_RGD_ID:597015750
8735023	Sell	selectin L	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:3655	D	RGD:9068941	20200609	RGD			PMID:22044737|REF_RGD_ID:5685697
8735023	Sell	selectin L	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3655	D	RGD:9068941	20200609	RGD			PMID:19489247|REF_RGD_ID:2313598
8735023	Sell	selectin L	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1342543	D	RGD:9068941	20200609	RGD			PMID:11095659|REF_RGD_ID:7175511
8735023	Sell	selectin L	gene	DOID:9004484	Sepsis		ISO	RGD:3655	D	RGD:9068941	20200609	RGD			PMID:15677732|PMID:16026013|REF_RGD_ID:5685706|REF_RGD_ID:5686285
8735023	Sell	selectin L	gene	DOID:9004968	Yin Deficiency		ISO	RGD:3655	D	RGD:9068941	20220915	RGD		protein:increased expression:serum	PMID:29729385|REF_RGD_ID:153350148
8735023	Sell	selectin L	gene	DOID:9005372	Inflammation		ISO	RGD:737030	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix, vagina	PMID:22391529|REF_RGD_ID:6480101
8735023	Sell	selectin L	gene	DOID:9005647	Experimental Autoimmune Uveitis		ISO	RGD:3655	D	RGD:9068941	20250118	RGD		protein:increased expression:serum:	PMID:7690324|REF_RGD_ID:597015766
8735023	Sell	selectin L	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:3655	D	RGD:9068941	20250116	RGD			PMID:7537789|REF_RGD_ID:597015754
8735023	Sell	selectin L	gene	DOID:9006439	Electric Burns		ISO	RGD:3655	D	RGD:9068941	20200609	RGD			PMID:21641115|REF_RGD_ID:5685698
8735023	Sell	selectin L	gene	DOID:9008884	Decompression Sickness		ISO	RGD:3655	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, lung, quadriceps	PMID:18279101|REF_RGD_ID:5685701
8735023	Sell	selectin L	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1342543	D	RGD:9068941	20200609	RGD			PMID:20512127|REF_RGD_ID:7175284
8735023	Sell	selectin L	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:1342543	D	RGD:9068941	20200609	RGD			PMID:22119815|REF_RGD_ID:7175303
8735023	Sell	selectin L	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:737030	D	RGD:9068941	20220825	MouseDO		OMIM:222100	
8735055	Capn8	calpain 8	gene	DOID:10608	celiac disease		ISO	RGD:736537	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
8735055	Capn8	calpain 8	gene	DOID:1324	lung cancer		ISO	RGD:736537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8735055	Capn8	calpain 8	gene	DOID:2394	ovarian cancer		ISO	RGD:736537	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8735055	Capn8	calpain 8	gene	DOID:3275	thymoma		ISO	RGD:736537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8735055	Capn8	calpain 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735055	Capn8	calpain 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8735107	Nit2	nitrilase family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8735107	Nit2	nitrilase family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1346727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8735107	Nit2	nitrilase family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1346727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8735107	Nit2	nitrilase family member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8735107	Nit2	nitrilase family member 2	gene	DOID:3070	high grade glioma		ISO	RGD:1346727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8735107	Nit2	nitrilase family member 2	gene	DOID:3275	thymoma		ISO	RGD:1346727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8735107	Nit2	nitrilase family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1346727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8735107	Nit2	nitrilase family member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8735107	Nit2	nitrilase family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1346727	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8735107	Nit2	nitrilase family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735107	Nit2	nitrilase family member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8735107	Nit2	nitrilase family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8735120	Zfand3	zinc finger AN1-type containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8735120	Zfand3	zinc finger AN1-type containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1316115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8735120	Zfand3	zinc finger AN1-type containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1316115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8735120	Zfand3	zinc finger AN1-type containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1316115	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8735120	Zfand3	zinc finger AN1-type containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735120	Zfand3	zinc finger AN1-type containing 3	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1316115	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8735120	Zfand3	zinc finger AN1-type containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8735120	Zfand3	zinc finger AN1-type containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8735120	Zfand3	zinc finger AN1-type containing 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1316115	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22158537
8735131	Pgf	placental growth factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8735131	Pgf	placental growth factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8735131	Pgf	placental growth factor	gene	DOID:0051061	stroke		ISO	RGD:1550266	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, astrocyte	PMID:11939589|REF_RGD_ID:6483603
8735131	Pgf	placental growth factor	gene	DOID:0060180	colitis		ISO	RGD:1550266	D	RGD:9068941	20200609	RGD			PMID:20142801|REF_RGD_ID:6483587
8735131	Pgf	placental growth factor	gene	DOID:10534	stomach cancer		ISO	RGD:1347328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8735131	Pgf	placental growth factor	gene	DOID:10591	pre-eclampsia		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD			PMID:21756887|REF_RGD_ID:6483577
8735131	Pgf	placental growth factor	gene	DOID:10591	pre-eclampsia		ISO	RGD:619850	D	RGD:9068941	20200609	RGD			PMID:20720407|REF_RGD_ID:6483779
8735131	Pgf	placental growth factor	gene	DOID:10763	hypertension		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD		associated with Pregnancy Complications, Cardiovascular;mRNA:decreased expression:placenta	PMID:12808329|REF_RGD_ID:1642387
8735131	Pgf	placental growth factor	gene	DOID:10923	sickle cell anemia		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:20040765|REF_RGD_ID:6483588
8735131	Pgf	placental growth factor	gene	DOID:11400	pyelonephritis		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:20213923|REF_RGD_ID:6483586
8735131	Pgf	placental growth factor	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1550266	D	RGD:9068941	20200609	RGD			PMID:21900081|REF_RGD_ID:6483574
8735131	Pgf	placental growth factor	gene	DOID:1577	limited scleroderma		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:22461185|REF_RGD_ID:6483571
8735131	Pgf	placental growth factor	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1347328	D	RGD:9068941	20200609	RGD			PMID:22270936|REF_RGD_ID:6483604
8735131	Pgf	placental growth factor	gene	DOID:1798	pancreatic endocrine carcinoma	disease_progression	ISO	RGD:1347328	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:23463017|REF_RGD_ID:14349029
8735131	Pgf	placental growth factor	gene	DOID:1798	pancreatic endocrine carcinoma	treatment	ISO	RGD:1347328	D	RGD:9068941	20200609	RGD		human cells in a mouse model	PMID:26861455|REF_RGD_ID:14349030
8735131	Pgf	placental growth factor	gene	DOID:1798	pancreatic endocrine carcinoma	treatment	ISO	RGD:1550266	D	RGD:9068941	20200609	RGD		human cells in a mouse model	PMID:26861455|REF_RGD_ID:14349030
8735131	Pgf	placental growth factor	gene	DOID:1824	status epilepticus		ISO	RGD:619850	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex, hippocampus	PMID:22079325|REF_RGD_ID:6483774
8735131	Pgf	placental growth factor	gene	DOID:1826	epilepsy		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:22160787|REF_RGD_ID:6483572
8735131	Pgf	placental growth factor	gene	DOID:1936	atherosclerosis		ISO	RGD:1550266	D	RGD:9068941	20200609	RGD			PMID:19952000|REF_RGD_ID:6483589
8735131	Pgf	placental growth factor	gene	DOID:2316	brain ischemia		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD			PMID:16901914|REF_RGD_ID:6483783
8735131	Pgf	placental growth factor	gene	DOID:2841	asthma		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD			PMID:22268141|REF_RGD_ID:6483605
8735131	Pgf	placental growth factor	gene	DOID:2841	asthma		ISO	RGD:1550266	D	RGD:9068941	20200609	RGD			PMID:22268141|REF_RGD_ID:6483605
8735131	Pgf	placental growth factor	gene	DOID:3068	glioblastoma	disease_progression	ISO	RGD:1347328	D	RGD:9068941	20200609	RGD			PMID:20458050|REF_RGD_ID:6483585
8735131	Pgf	placental growth factor	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD			PMID:22119626|REF_RGD_ID:6483573
8735131	Pgf	placental growth factor	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD		protein:increased expression:temporal cortex	PMID:22079325|REF_RGD_ID:6483774
8735131	Pgf	placental growth factor	gene	DOID:3407	carotid artery disease	severity	ISO	RGD:1347328	D	RGD:9068941	20200609	RGD			PMID:17157858|REF_RGD_ID:6483596
8735131	Pgf	placental growth factor	gene	DOID:3498	pancreatic ductal adenocarcinoma	severity	ISO	RGD:1550266	D	RGD:9068941	20200609	RGD		associated with obesity	PMID:26861455|REF_RGD_ID:14349030
8735131	Pgf	placental growth factor	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:1347328	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:14981951|REF_RGD_ID:13506645
8735131	Pgf	placental growth factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8735131	Pgf	placental growth factor	gene	DOID:4977	lymphedema		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD		associated with Elephantiasis, Filarial;protein:increased expression:plasma	PMID:20889885|REF_RGD_ID:6483608
8735131	Pgf	placental growth factor	gene	DOID:5082	liver cirrhosis		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver, serum	PMID:21520176|REF_RGD_ID:6483607
8735131	Pgf	placental growth factor	gene	DOID:5844	myocardial infarction		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD			PMID:22114497|REF_RGD_ID:6483773
8735131	Pgf	placental growth factor	gene	DOID:5844	myocardial infarction		ISO	RGD:1550266	D	RGD:9068941	20200609	RGD			PMID:20649603|REF_RGD_ID:6483584
8735131	Pgf	placental growth factor	gene	DOID:5844	myocardial infarction		ISO	RGD:619850	D	RGD:9068941	20200609	RGD			PMID:21329947|REF_RGD_ID:6483777
8735131	Pgf	placental growth factor	gene	DOID:6000	congestive heart failure		ISO	RGD:619850	D	RGD:9068941	20200609	RGD			PMID:19327525|REF_RGD_ID:6483590
8735131	Pgf	placental growth factor	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD		associated with Anemia, Sickle Cell;protein:increased expression:plasma	PMID:20040765|REF_RGD_ID:6483588
8735131	Pgf	placental growth factor	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD		associated with Heart Defects, Congenital	PMID:20195855|REF_RGD_ID:6483610
8735131	Pgf	placental growth factor	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD			PMID:21873332|REF_RGD_ID:6483576
8735131	Pgf	placental growth factor	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD			PMID:19180491|REF_RGD_ID:6483591
8735131	Pgf	placental growth factor	gene	DOID:783	end stage renal disease		ISO	RGD:619850	D	RGD:9068941	20200609	RGD			PMID:16543713|REF_RGD_ID:1642390
8735131	Pgf	placental growth factor	gene	DOID:874	bacterial pneumonia		ISO	RGD:1550266	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16702604|REF_RGD_ID:6483601
8735131	Pgf	placental growth factor	gene	DOID:8778	Crohn's disease		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17980128|REF_RGD_ID:6483592
8735131	Pgf	placental growth factor	gene	DOID:8947	diabetic retinopathy		ISO	RGD:619850	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:21408222|REF_RGD_ID:6483775
8735131	Pgf	placental growth factor	gene	DOID:9000656	Penetrating Wounds		ISO	RGD:1550266	D	RGD:9068941	20200609	RGD			PMID:17194893|REF_RGD_ID:6483614
8735131	Pgf	placental growth factor	gene	DOID:9001547	Tibial Fractures		ISO	RGD:1550266	D	RGD:9068941	20200609	RGD			PMID:16614757|REF_RGD_ID:6483602
8735131	Pgf	placental growth factor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1550266	D	RGD:9068941	20200609	RGD			PMID:21520176|REF_RGD_ID:6483607
8735131	Pgf	placental growth factor	gene	DOID:9001573	Experimental Liver Cirrhosis	disease_progression	ISO	RGD:619850	D	RGD:9068941	20200609	RGD			PMID:17935226|REF_RGD_ID:1643338
8735131	Pgf	placental growth factor	gene	DOID:9002165	Diabetic Nephropathies	disease_progression	ISO	RGD:1347328	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1	PMID:21988672|REF_RGD_ID:6483606
8735131	Pgf	placental growth factor	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1550266	D	RGD:9068941	20200609	RGD			PMID:19180491|REF_RGD_ID:6483591
8735131	Pgf	placental growth factor	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:1550266	D	RGD:9068941	20200609	RGD			PMID:21264946|REF_RGD_ID:6483582
8735131	Pgf	placental growth factor	gene	DOID:9002669	Hypoxia		ISO	RGD:619850	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:17240241|REF_RGD_ID:1642388
8735131	Pgf	placental growth factor	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1347328	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8735131	Pgf	placental growth factor	gene	DOID:9003507	Premature Birth		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD			PMID:20822327|REF_RGD_ID:6483609
8735131	Pgf	placental growth factor	gene	DOID:9004484	Sepsis		ISO	RGD:1550266	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16702604|REF_RGD_ID:6483601
8735131	Pgf	placental growth factor	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1347328	D	RGD:9068941	20250306	CTD		CTD Direct Evidence: therapeutic	PMID:39233289
8735131	Pgf	placental growth factor	gene	DOID:9005372	Inflammation		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD			PMID:19356732|REF_RGD_ID:6483611
8735131	Pgf	placental growth factor	gene	DOID:9005372	Inflammation	severity	ISO	RGD:1347328	D	RGD:9068941	20200609	RGD		associated with Arteriosclerosis;protein:increased expression:artery	PMID:17157858|REF_RGD_ID:6483596
8735131	Pgf	placental growth factor	gene	DOID:9005372	Inflammation	severity	ISO	RGD:1550266	D	RGD:9068941	20200609	RGD			PMID:15911697|REF_RGD_ID:1642386
8735131	Pgf	placental growth factor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:619850	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:placenta, trophoblast cell	PMID:17917370|REF_RGD_ID:6483782
8735131	Pgf	placental growth factor	gene	DOID:9005930	Endotoxemia		ISO	RGD:1550266	D	RGD:9068941	20200609	RGD		protein:increased expression:multiple	PMID:16702604|REF_RGD_ID:6483601
8735131	Pgf	placental growth factor	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD			PMID:18192038|REF_RGD_ID:6483613
8735131	Pgf	placental growth factor	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19276301|REF_RGD_ID:6483612
8735131	Pgf	placental growth factor	gene	DOID:9675	pulmonary emphysema		ISO	RGD:1550266	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung, plasma	PMID:17023518|REF_RGD_ID:5135245
8735131	Pgf	placental growth factor	gene	DOID:9743	diabetic neuropathy		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21056561|REF_RGD_ID:6483583
8735131	Pgf	placental growth factor	gene	DOID:9970	obesity		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD		associated with Pre-eclampsia;protein:increased expression:serum	PMID:16769024|REF_RGD_ID:1642384
8735131	Pgf	placental growth factor	gene	DOID:9970	obesity		ISO	RGD:1347328	D	RGD:9068941	20200609	RGD		associated with pancreatic cancer;protein:increased expression:plasma (human)	PMID:26861455|REF_RGD_ID:14349030
8735131	Pgf	placental growth factor	gene	DOID:9970	obesity		ISO	RGD:1550266	D	RGD:9068941	20200609	RGD			PMID:16020476|REF_RGD_ID:1642385
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:0081242	autoimmune interstitial lung, joint, and kidney disease		ISO	RGD:1321477	D	RGD:7240710	20180130	OMIM			
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:0081242	autoimmune interstitial lung, joint, and kidney disease		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AUTOINFLAMMATION AND AUTOIMMUNITY, SYSTEMIC, WITH IMMUNE DYSREGULATION 1 | ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome | ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease | ClinVar Annotator: match by term: COPA-related condition | ClinVar Annotator: match by term: autoimmune interstitial lung disease-arthritis syndrome	PMID:17576681|PMID:25741868|PMID:25894502|PMID:27048656|PMID:27577878|PMID:28492532|PMID:29137621|PMID:30804679|PMID:31455335|PMID:31905480|PMID:32040879|PMID:32778887|PMID:32919065|PMID:38175705|PMID:9536098
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:1324	lung cancer		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:1909	melanoma		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:3082	interstitial lung disease		ISO	RGD:1321477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25894502
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:417	autoimmune disease		ISO	RGD:1321477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25894502
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1321477	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:6039	uveal melanoma		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:630	genetic disease		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:848	arthritis		ISO	RGD:1321477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25894502
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:850	lung disease		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:25741868
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:9002245	Intestinal Neoplasms		ISO	RGD:1321477	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:42286202
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8735155	Copa	coat protein complex I subunit alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8735196	Gpr160	G protein-coupled receptor 160	gene	DOID:1115	sarcoma		ISO	RGD:1345785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8735237	Foxred2	FAD dependent oxidoreductase domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8735237	Foxred2	FAD dependent oxidoreductase domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1602317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8735237	Foxred2	FAD dependent oxidoreductase domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602317	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8735237	Foxred2	FAD dependent oxidoreductase domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8735237	Foxred2	FAD dependent oxidoreductase domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735237	Foxred2	FAD dependent oxidoreductase domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8735237	Foxred2	FAD dependent oxidoreductase domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8735261	Mfn1	mitofusin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8735261	Mfn1	mitofusin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8735261	Mfn1	mitofusin 1	gene	DOID:0110721	neuronal ceroid lipofuscinosis 1		ISO	RGD:731663	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21224254
8735261	Mfn1	mitofusin 1	gene	DOID:10534	stomach cancer		ISO	RGD:731663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8735261	Mfn1	mitofusin 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731663	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus (human)	PMID:19605646|REF_RGD_ID:7800727
8735261	Mfn1	mitofusin 1	gene	DOID:1115	sarcoma		ISO	RGD:731663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8735261	Mfn1	mitofusin 1	gene	DOID:11394	adult respiratory distress syndrome	treatment	ISO	RGD:621460	D	RGD:9068941	20200609	RGD			PMID:27830717|REF_RGD_ID:12910765
8735261	Mfn1	mitofusin 1	gene	DOID:11830	myopia		ISO	RGD:731663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
8735261	Mfn1	mitofusin 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731664	D	RGD:9068941	20200609	RGD		with Mfn2 knockout	PMID:22052916|REF_RGD_ID:11251967
8735261	Mfn1	mitofusin 1	gene	DOID:13711	dental fluorosis		ISO	RGD:621460	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:frontal cortex (rat)	PMID:23007560|REF_RGD_ID:12738230
8735261	Mfn1	mitofusin 1	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:731663	D	RGD:9068941	20230520	RGD		protein:decreased expression:vastus lateralis	PMID:23972212|REF_RGD_ID:329812002
8735261	Mfn1	mitofusin 1	gene	DOID:1596	depressive disorder		ISO	RGD:731663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
8735261	Mfn1	mitofusin 1	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:731664	D	RGD:9068941	20200609	RGD			PMID:22244747|REF_RGD_ID:13204844
8735261	Mfn1	mitofusin 1	gene	DOID:1824	status epilepticus		ISO	RGD:621460	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hippocampus (rat)	PMID:27045873|REF_RGD_ID:12436727
8735261	Mfn1	mitofusin 1	gene	DOID:1826	epilepsy		ISO	RGD:731663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8735261	Mfn1	mitofusin 1	gene	DOID:1909	melanoma		ISO	RGD:731663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8735261	Mfn1	mitofusin 1	gene	DOID:2030	anxiety disorder		ISO	RGD:731663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
8735261	Mfn1	mitofusin 1	gene	DOID:3021	acute kidney failure		ISO	RGD:621460	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney (rat)	PMID:26480480|REF_RGD_ID:12910862
8735261	Mfn1	mitofusin 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:731663	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:22975021
8735261	Mfn1	mitofusin 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:731663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8735261	Mfn1	mitofusin 1	gene	DOID:4362	cervical cancer		ISO	RGD:731663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8735261	Mfn1	mitofusin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8735261	Mfn1	mitofusin 1	gene	DOID:4483	rhinitis		ISO	RGD:621460	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:nasal cavity mucosa (rat)	PMID:28146064|REF_RGD_ID:13204839
8735261	Mfn1	mitofusin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:731663	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8735261	Mfn1	mitofusin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8735261	Mfn1	mitofusin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735261	Mfn1	mitofusin 1	gene	DOID:6364	migraine		ISO	RGD:621460	D	RGD:9068941	20200609	RGD		protein:decreased expression:trigeminal ganglion (rat)	PMID:27984195|REF_RGD_ID:12910755
8735261	Mfn1	mitofusin 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:621460	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart right ventricle (rat)	PMID:27422986|REF_RGD_ID:12910832
8735261	Mfn1	mitofusin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8735261	Mfn1	mitofusin 1	gene	DOID:784	chronic kidney disease	treatment	ISO	RGD:621460	D	RGD:9068941	20200609	RGD			PMID:27801955|REF_RGD_ID:12738369
8735261	Mfn1	mitofusin 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:621460	D	RGD:9068941	20200609	RGD		protein:altered expression:spinal cord, mitochondrion (rat)	PMID:26981103|REF_RGD_ID:12910837
8735261	Mfn1	mitofusin 1	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:621460	D	RGD:9068941	20200609	RGD			PMID:26079325|REF_RGD_ID:12437066
8735261	Mfn1	mitofusin 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:731663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8735261	Mfn1	mitofusin 1	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:731664	D	RGD:9068941	20200609	RGD			PMID:28503736|REF_RGD_ID:12910714
8735261	Mfn1	mitofusin 1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:621460	D	RGD:9068941	20200609	RGD		mRNA, protein:altered expression:lung (rat)	PMID:25560372|REF_RGD_ID:12437080
8735261	Mfn1	mitofusin 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:731663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8735261	Mfn1	mitofusin 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
8735261	Mfn1	mitofusin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8735261	Mfn1	mitofusin 1	gene	DOID:9007102	Myocardial Ischemia	treatment	ISO	RGD:621460	D	RGD:9068941	20200609	RGD			PMID:27491814|REF_RGD_ID:12910831
8735261	Mfn1	mitofusin 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:731663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
8735261	Mfn1	mitofusin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8735261	Mfn1	mitofusin 1	gene	DOID:9009105	HIV Encephalitis		ISO	RGD:731663	D	RGD:9068941	20200609	RGD		associated with HIV Infections;protein:increased expression:frontal cortex, membrane (human)	PMID:26611103|REF_RGD_ID:12910851
8735261	Mfn1	mitofusin 1	gene	DOID:9009106	Acute Heart Injury		ISO	RGD:621460	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:heart (rat)	PMID:25677476|REF_RGD_ID:12437078
8735261	Mfn1	mitofusin 1	gene	DOID:9834	hyperopia		ISO	RGD:731663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
8735288	Duoxa2	dual oxidase maturation factor 2	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1603235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	PMID:28492532
8735288	Duoxa2	dual oxidase maturation factor 2	gene	DOID:0112183	familial thyroid dyshormonogenesis		ISO	RGD:1603235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial thyroid dyshormonogenesis	PMID:18042646|PMID:23292166|PMID:25741868
8735288	Duoxa2	dual oxidase maturation factor 2	gene	DOID:0112184	thyroid dyshormonogenesis 5		ISO	RGD:1603235	D	RGD:7240710	20180130	OMIM			
8735288	Duoxa2	dual oxidase maturation factor 2	gene	DOID:0112184	thyroid dyshormonogenesis 5		ISO	RGD:1603235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DUOXA2-related condition | ClinVar Annotator: match by term: THYROID DYSHORMONOGENESIS 5 | ClinVar Annotator: match by term: thyroid dyshormonogenesis 5	PMID:18042646|PMID:23292166|PMID:25675383|PMID:25741868|PMID:28492532|PMID:30110704|PMID:31980526|PMID:32252219|PMID:33651715|PMID:33692749
8735288	Duoxa2	dual oxidase maturation factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8735288	Duoxa2	dual oxidase maturation factor 2	gene	DOID:630	genetic disease		ISO	RGD:1603235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1347629	D	RGD:9068941	20200609	RGD			PMID:17854592|REF_RGD_ID:4891931
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:1318175	D	RGD:9068941	20251211	RGD			PMID:23565190|REF_RGD_ID:628374357
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:0080826	nocturnal asthma	susceptibility	ISO	RGD:1347629	D	RGD:9068941	20251009	RGD		DNA:SNPs: :multiple	PMID:30927345|REF_RGD_ID:628374610
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:1205	allergic disease		ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		DNA:SNPs: : multiple	PMID:19996348|REF_RGD_ID:634726643
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1347629	D	RGD:9068941	20200609	RGD			PMID:16938805|REF_RGD_ID:4891932
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1347629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:2560	morphine dependence		ISO	RGD:1564154	D	RGD:9068941	20200609	RGD			PMID:23684726|REF_RGD_ID:9831198
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma		ISO	RGD:1347629	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:15710598|PMID:15764725|PMID:16926187
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma		ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		DNA: SNPs: :rs887020, rs11770777, rs2531840	PMID:28463995|REF_RGD_ID:632645232
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma		ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		DNA:SNP, haplotype: :rs740347	PMID:19624525|REF_RGD_ID:635174445
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma		ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		DNA:SNPs, haplotype: :multiple	PMID:15710598|REF_RGD_ID:640127713
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma		ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		DNA:SNPs, haplotypes: :multiple	PMID:17210045|REF_RGD_ID:635259248
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma		ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		protein:increased expression:blood plasma	PMID:27145233|REF_RGD_ID:634435999
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma		ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		protein:increased expression:epithelium of bronchus	PMID:18305139|REF_RGD_ID:4889589
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma		ISO	RGD:1347629	D	RGD:9068941	20260312	RGD			PMID:15073379|PMID:18285428|REF_RGD_ID:4891921|REF_RGD_ID:4891922
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma		ISO	RGD:1347629	D	RGD:9068941	20260312	RGD		DNA:SNPs: :rs714588, rs2609234, rs1379928	PMID:17702965|REF_RGD_ID:4891923
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma		ISO	RGD:2291750	D	RGD:9068941	20260305	RGD		DNA: SNPs:exon:multiple	PMID:28463995|REF_RGD_ID:632645232
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma	no_association	ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		DNA:SNP: :rs323922	PMID:15990798|REF_RGD_ID:635332549
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma	no_association	ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		DNA:SNPs, haplotypes: :multiple	PMID:18340359|REF_RGD_ID:635220549
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma	severity	ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		DNA:hypomethylation:promoter	PMID:23372674|REF_RGD_ID:632645235
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma	severity	ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		protein:increased expression:blood, eosinophil	PMID:24239856|REF_RGD_ID:635383003
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		DNA:SNPs, haplotype: :multiple	PMID:15764725|REF_RGD_ID:640209581
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1354144	D	RGD:9068941	20260326	RGD		DNA:SNPs: :multiple	PMID:18305139|REF_RGD_ID:4889589
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:3042	allergic contact dermatitis	treatment	ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		DNA:SNP	PMID:24439655|REF_RGD_ID:634560752
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:3310	atopic dermatitis	no_association	ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		DNA:SNP: :rs323922	PMID:15990798|REF_RGD_ID:635332549
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:4481	allergic rhinitis		ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		DNA:SNPs: :multiple	PMID:23663310|REF_RGD_ID:635060375
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:594	panic disorder		ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		DNA:SNPs: :multiple	PMID:20705147|REF_RGD_ID:632645233
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1347629	D	RGD:9068941	20200609	RGD			PMID:20179762|REF_RGD_ID:4891930
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:77	gastrointestinal system disease		ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		DNA:SNPs: promoter, exon, intron: multiple	PMID:25091462|REF_RGD_ID:634684261
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:8577	ulcerative colitis	susceptibility	ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		DNA:SNPs, haplotype:promoter, cds: -103T>C (rs2530547), p.I107N (rs324981), p.R241S (rs727162)	PMID:22216302|REF_RGD_ID:634489093
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:9000252	Allergic Rhinoconjunctivitis	susceptibility	ISO	RGD:1354144	D	RGD:9068941	20260326	RGD		DNA:SNP: :rs324396	PMID:18305139|REF_RGD_ID:4889589
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:9000499	Alcoholic Intoxication		ISO	RGD:1564154	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:19860802|REF_RGD_ID:9831199
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:9001109	Anorexia		ISO	RGD:1564154	D	RGD:9068941	20200609	RGD			PMID:19821837|REF_RGD_ID:9835045
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:1564154	D	RGD:9068941	20200609	RGD			PMID:24884567|REF_RGD_ID:9831205
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:9005632	Cocaine-Related Disorders	treatment	ISO	RGD:1564154	D	RGD:9068941	20200609	RGD			PMID:22982682|REF_RGD_ID:9831202
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:9008727	Ige Responsiveness, Atopic		ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		DNA:SNPs, haplotypes: :multiple	PMID:15710598|REF_RGD_ID:640127713
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:9009388	Familial Natural Short Sleep 3		ISO	RGD:1347629	D	RGD:7240710	20251001	OMIM			
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:9415	allergic asthma		ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		DNA:SNP: :rs1006392	PMID:19247692|REF_RGD_ID:640075717
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:9415	allergic asthma		ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		DNA:SNPs, haplotypes: :rs323922, rs324396	PMID:17285544|REF_RGD_ID:635107921
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:9415	allergic asthma		ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		DNA:hypomethylation:promoter	PMID:23372674|REF_RGD_ID:632645235
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:9415	allergic asthma	onset	ISO	RGD:1347629	D	RGD:9068941	20260305	RGD		DNA:SNPs: : multiple	PMID:19996348|REF_RGD_ID:634726643
8735301	Npsr1	neuropeptide S receptor 1	gene	DOID:9415	allergic asthma	susceptibility	ISO	RGD:1354144	D	RGD:9068941	20260326	RGD		DNA:SNPs:intron:rs323922, rs324384	PMID:18305139|REF_RGD_ID:4889589
8735314	Znrf3	zinc and ring finger 3	gene	DOID:10534	stomach cancer		ISO	RGD:1342950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8735314	Znrf3	zinc and ring finger 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8735314	Znrf3	zinc and ring finger 3	gene	DOID:1115	sarcoma		ISO	RGD:1342950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8735314	Znrf3	zinc and ring finger 3	gene	DOID:1793	pancreatic cancer		ISO	RGD:1342950	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25086665|PMID:26098869
8735314	Znrf3	zinc and ring finger 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8735314	Znrf3	zinc and ring finger 3	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:1342950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal cortex carcinoma	PMID:26106367|PMID:26676358|PMID:27165744|PMID:27993330|PMID:29872083
8735314	Znrf3	zinc and ring finger 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8735314	Znrf3	zinc and ring finger 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1342950	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8735314	Znrf3	zinc and ring finger 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735314	Znrf3	zinc and ring finger 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8735314	Znrf3	zinc and ring finger 3	gene	DOID:9003766	46, XY Disorders of Sex Development		ISO	RGD:1342950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Male pseudohermaphroditism	PMID:25741868|PMID:29735715|PMID:36631813
8735314	Znrf3	zinc and ring finger 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1342950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8735314	Znrf3	zinc and ring finger 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8735314	Znrf3	zinc and ring finger 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8735346	Nfxl1	nuclear transcription factor, X-box binding like 1	gene	DOID:13580	cholestasis		ISO	RGD:1347533	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
8735346	Nfxl1	nuclear transcription factor, X-box binding like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8735346	Nfxl1	nuclear transcription factor, X-box binding like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347533	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8735346	Nfxl1	nuclear transcription factor, X-box binding like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735346	Nfxl1	nuclear transcription factor, X-box binding like 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1347533	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
8735375	Nasp	nuclear autoantigenic sperm protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8735375	Nasp	nuclear autoantigenic sperm protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8735375	Nasp	nuclear autoantigenic sperm protein	gene	DOID:10534	stomach cancer		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8735375	Nasp	nuclear autoantigenic sperm protein	gene	DOID:1115	sarcoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8735375	Nasp	nuclear autoantigenic sperm protein	gene	DOID:1909	melanoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8735375	Nasp	nuclear autoantigenic sperm protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8735375	Nasp	nuclear autoantigenic sperm protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8735375	Nasp	nuclear autoantigenic sperm protein	gene	DOID:3070	high grade glioma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8735375	Nasp	nuclear autoantigenic sperm protein	gene	DOID:3275	thymoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8735375	Nasp	nuclear autoantigenic sperm protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1605124	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8735375	Nasp	nuclear autoantigenic sperm protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735375	Nasp	nuclear autoantigenic sperm protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8735375	Nasp	nuclear autoantigenic sperm protein	gene	DOID:9003566	Mesothelioma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8735375	Nasp	nuclear autoantigenic sperm protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8735375	Nasp	nuclear autoantigenic sperm protein	gene	DOID:9007456	Female Infertility		ISO	RGD:1552828	D	RGD:9068941	20200609	RGD			PMID:19219058|REF_RGD_ID:9590110
8735375	Nasp	nuclear autoantigenic sperm protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8735400	Pasd1	PAS domain containing repressor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8735400	Pasd1	PAS domain containing repressor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8735400	Pasd1	PAS domain containing repressor 1	gene	DOID:1909	melanoma		ISO	RGD:1346433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8735400	Pasd1	PAS domain containing repressor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8735400	Pasd1	PAS domain containing repressor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735400	Pasd1	PAS domain containing repressor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8735400	Pasd1	PAS domain containing repressor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8735400	Pasd1	PAS domain containing repressor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8735422	Klhl26	kelch like family member 26	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8735422	Klhl26	kelch like family member 26	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8735422	Klhl26	kelch like family member 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735422	Klhl26	kelch like family member 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8735422	Klhl26	kelch like family member 26	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:0060951	polycystic kidney disease 6		ISO	RGD:1316536	D	RGD:7240710	20190315	OMIM			
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:0060951	polycystic kidney disease 6		ISO	RGD:1316536	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: DNAJB11-related condition | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | ClinVar Annotator: match by term: Polycystic kidney disease 6 with or without polycystic liver disease	PMID:25741868|PMID:28492532|PMID:29706351|PMID:32631624|PMID:33129895|PMID:34177435
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:10534	stomach cancer		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:1115	sarcoma		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:12215	oligohydramnios		ISO	RGD:1316536	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Anhydramnios	PMID:25741868|PMID:35005812
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:1324	lung cancer		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:2394	ovarian cancer		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:2975	cystic kidney disease		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868|PMID:32631624
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:4362	cervical cancer		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:5041	esophageal cancer		ISO	RGD:1316536	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:630	genetic disease		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:32631624|PMID:33129895|PMID:34177435
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	PMID:25741868|PMID:32631624
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8735442	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:9256	colorectal cancer		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8735455	Snx17	sorting nexin 17	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8735455	Snx17	sorting nexin 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8735455	Snx17	sorting nexin 17	gene	DOID:0060058	lymphoma		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8735455	Snx17	sorting nexin 17	gene	DOID:1115	sarcoma		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8735455	Snx17	sorting nexin 17	gene	DOID:1324	lung cancer		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8735455	Snx17	sorting nexin 17	gene	DOID:1909	melanoma		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8735455	Snx17	sorting nexin 17	gene	DOID:2394	ovarian cancer		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8735455	Snx17	sorting nexin 17	gene	DOID:4362	cervical cancer		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8735455	Snx17	sorting nexin 17	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315030	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8735455	Snx17	sorting nexin 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1315030	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8735455	Snx17	sorting nexin 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735455	Snx17	sorting nexin 17	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8735455	Snx17	sorting nexin 17	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8735455	Snx17	sorting nexin 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8735455	Snx17	sorting nexin 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8735455	Snx17	sorting nexin 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8735481	Npm2	nucleophosmin/nucleoplasmin 2	gene	DOID:10534	stomach cancer		ISO	RGD:737293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8735481	Npm2	nucleophosmin/nucleoplasmin 2	gene	DOID:3275	thymoma		ISO	RGD:737293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8735481	Npm2	nucleophosmin/nucleoplasmin 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8735481	Npm2	nucleophosmin/nucleoplasmin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735481	Npm2	nucleophosmin/nucleoplasmin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8735481	Npm2	nucleophosmin/nucleoplasmin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8735492	Utrn	utrophin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8735492	Utrn	utrophin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8735492	Utrn	utrophin	gene	DOID:0060260	ptosis		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
8735492	Utrn	utrophin	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
8735492	Utrn	utrophin	gene	DOID:10534	stomach cancer		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8735492	Utrn	utrophin	gene	DOID:1115	sarcoma		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8735492	Utrn	utrophin	gene	DOID:11723	Duchenne muscular dystrophy		ISO	RGD:731341	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Duchenne muscular dystrophy	PMID:25741868
8735492	Utrn	utrophin	gene	DOID:11830	myopia		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
8735492	Utrn	utrophin	gene	DOID:12176	goiter		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	
8735492	Utrn	utrophin	gene	DOID:1324	lung cancer		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8735492	Utrn	utrophin	gene	DOID:1909	melanoma		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8735492	Utrn	utrophin	gene	DOID:1924	hypogonadism		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	
8735492	Utrn	utrophin	gene	DOID:2394	ovarian cancer		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8735492	Utrn	utrophin	gene	DOID:3070	high grade glioma		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8735492	Utrn	utrophin	gene	DOID:3275	thymoma		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8735492	Utrn	utrophin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8735492	Utrn	utrophin	gene	DOID:4362	cervical cancer		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8735492	Utrn	utrophin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8735492	Utrn	utrophin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8735492	Utrn	utrophin	gene	DOID:5041	esophageal cancer		ISO	RGD:731341	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8735492	Utrn	utrophin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8735492	Utrn	utrophin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735492	Utrn	utrophin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8735492	Utrn	utrophin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8735492	Utrn	utrophin	gene	DOID:7998	hyperthyroidism		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
8735492	Utrn	utrophin	gene	DOID:9001733	Tinnitus		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	
8735492	Utrn	utrophin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8735492	Utrn	utrophin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8735492	Utrn	utrophin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8735492	Utrn	utrophin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8735589	Helt	helt bHLH transcription factor	gene	DOID:4362	cervical cancer		ISO	RGD:2292703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8735589	Helt	helt bHLH transcription factor	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:2292703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8735602	Rab39a	RAB39A, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735606	Pglyrp2	peptidoglycan recognition protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8735606	Pglyrp2	peptidoglycan recognition protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8735629	Cdc25a	cell division cycle 25A	gene	DOID:0050770	polycystic liver disease	treatment	ISO	RGD:731493	D	RGD:9068941	20200609	RGD			PMID:22155366|REF_RGD_ID:14700990
8735629	Cdc25a	cell division cycle 25A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8735629	Cdc25a	cell division cycle 25A	gene	DOID:0080600	COVID-19		ISO	RGD:731492	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8735629	Cdc25a	cell division cycle 25A	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:621498	D	RGD:9068941	20200609	RGD		protein:increased expression:cholangiocyte:	PMID:22155366|REF_RGD_ID:14700990
8735629	Cdc25a	cell division cycle 25A	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:731492	D	RGD:9068941	20200609	RGD		protein:increased expression:cholangiocyte:	PMID:22155366|REF_RGD_ID:14700990
8735629	Cdc25a	cell division cycle 25A	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:731493	D	RGD:9068941	20200609	RGD		protein:increased expression:cholangiocyte:	PMID:22155366|REF_RGD_ID:14700990
8735629	Cdc25a	cell division cycle 25A	gene	DOID:0110861	autosomal recessive polycystic kidney disease	treatment	ISO	RGD:621498	D	RGD:9068941	20200609	RGD			PMID:22155366|REF_RGD_ID:14700990
8735629	Cdc25a	cell division cycle 25A	gene	DOID:10283	prostate cancer		ISO	RGD:731492	D	RGD:9068941	20200609	RGD			PMID:18974148|REF_RGD_ID:2743964
8735629	Cdc25a	cell division cycle 25A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731492	D	RGD:9068941	20200609	RGD			PMID:17145867|REF_RGD_ID:2715645
8735629	Cdc25a	cell division cycle 25A	gene	DOID:1324	lung cancer		ISO	RGD:731492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8735629	Cdc25a	cell division cycle 25A	gene	DOID:1909	melanoma		ISO	RGD:731492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8735629	Cdc25a	cell division cycle 25A	gene	DOID:2101	vulva squamous cell carcinoma		ISO	RGD:731492	D	RGD:9068941	20200609	RGD		protein:increased expression:vulva	PMID:20500813|REF_RGD_ID:2729590
8735629	Cdc25a	cell division cycle 25A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8735629	Cdc25a	cell division cycle 25A	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:731492	D	RGD:9068941	20200609	RGD			PMID:19555767|REF_RGD_ID:2734052
8735629	Cdc25a	cell division cycle 25A	gene	DOID:4362	cervical cancer		ISO	RGD:731492	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8735629	Cdc25a	cell division cycle 25A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735629	Cdc25a	cell division cycle 25A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8735629	Cdc25a	cell division cycle 25A	gene	DOID:9002221	Hyperplasia		ISO	RGD:731492	D	RGD:9068941	20200609	RGD			PMID:17283130|REF_RGD_ID:2764000
8735629	Cdc25a	cell division cycle 25A	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:731492	D	RGD:9068941	20200609	RGD			PMID:17283130|REF_RGD_ID:2764000
8735629	Cdc25a	cell division cycle 25A	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:731493	D	RGD:9068941	20200609	RGD			PMID:16951165|PMID:17638870|REF_RGD_ID:2754551|REF_RGD_ID:2771824
8735629	Cdc25a	cell division cycle 25A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8735654	Ccl24	C-C motif chemokine ligand 24	gene	DOID:0060500	drug allergy		ISO	RGD:1321033	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14616128
8735654	Ccl24	C-C motif chemokine ligand 24	gene	DOID:1205	allergic disease		ISO	RGD:1321033	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8735654	Ccl24	C-C motif chemokine ligand 24	gene	DOID:2841	asthma		ISO	RGD:1321033	D	RGD:9068941	20200609	RGD			PMID:17548626|REF_RGD_ID:4891484
8735654	Ccl24	C-C motif chemokine ligand 24	gene	DOID:2841	asthma		ISO	RGD:1321033	D	RGD:9068941	20200609	RGD		DNA:SNP: :1265A>G (human)	PMID:12761043|REF_RGD_ID:5130932
8735654	Ccl24	C-C motif chemokine ligand 24	gene	DOID:2841	asthma		ISO	RGD:1321033	D	RGD:9068941	20200609	RGD		DNA:SNPs: :304C>A, 1272A>G (human)	PMID:18712274|REF_RGD_ID:4891483
8735654	Ccl24	C-C motif chemokine ligand 24	gene	DOID:2841	asthma		ISO	RGD:1321033	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16304252|REF_RGD_ID:5130930
8735654	Ccl24	C-C motif chemokine ligand 24	gene	DOID:2841	asthma		ISO	RGD:1321033	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:12952266|REF_RGD_ID:4891496
8735654	Ccl24	C-C motif chemokine ligand 24	gene	DOID:2841	asthma		ISO	RGD:1321034	D	RGD:9068941	20200609	RGD			PMID:17060636|REF_RGD_ID:4891485
8735654	Ccl24	C-C motif chemokine ligand 24	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1321033	D	RGD:9068941	20200609	RGD		DNA:SNPs: :179T>C, 275C>T (human)	PMID:15207712|REF_RGD_ID:4891495
8735654	Ccl24	C-C motif chemokine ligand 24	gene	DOID:3310	atopic dermatitis		ISO	RGD:1321033	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437
8735654	Ccl24	C-C motif chemokine ligand 24	gene	DOID:4483	rhinitis		ISO	RGD:1321033	D	RGD:9068941	20200609	RGD		DNA:SNPs: :179T>C, 275C>T (human)	PMID:15580493|REF_RGD_ID:4891493
8735654	Ccl24	C-C motif chemokine ligand 24	gene	DOID:4483	rhinitis		ISO	RGD:1321033	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nasal cavity epithelium	PMID:17982926|REF_RGD_ID:4145109
8735654	Ccl24	C-C motif chemokine ligand 24	gene	DOID:552	pneumonia		ISO	RGD:1321033	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8735654	Ccl24	C-C motif chemokine ligand 24	gene	DOID:8544	chronic fatigue syndrome		ISO	RGD:1321033	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:26615570|REF_RGD_ID:11538286
8735654	Ccl24	C-C motif chemokine ligand 24	gene	DOID:9001371	Eosinophilia		ISO	RGD:1321033	D	RGD:9068941	20200609	RGD		associated with Sinusitis	PMID:19296494|REF_RGD_ID:4891487
8735654	Ccl24	C-C motif chemokine ligand 24	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1321033	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nasal cavity epithelium	PMID:10415058|REF_RGD_ID:4145448
8735671	Trhde	thyrotropin releasing hormone degrading enzyme	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:730936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8735671	Trhde	thyrotropin releasing hormone degrading enzyme	gene	DOID:10534	stomach cancer		ISO	RGD:730936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8735671	Trhde	thyrotropin releasing hormone degrading enzyme	gene	DOID:1324	lung cancer		ISO	RGD:730936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8735671	Trhde	thyrotropin releasing hormone degrading enzyme	gene	DOID:1909	melanoma		ISO	RGD:730936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8735671	Trhde	thyrotropin releasing hormone degrading enzyme	gene	DOID:2843	long QT syndrome		ISO	RGD:730936	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8735671	Trhde	thyrotropin releasing hormone degrading enzyme	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:730936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8735671	Trhde	thyrotropin releasing hormone degrading enzyme	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:730936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8735671	Trhde	thyrotropin releasing hormone degrading enzyme	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:0060476	Perlman syndrome		ISO	RGD:1322372	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Predisposition to Wilms tumor	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1322372	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:10534	stomach cancer		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:1115	sarcoma		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:1612	breast cancer		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:25741868
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:1909	melanoma		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:3070	high grade glioma		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:3275	thymoma		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:3369	Ewing sarcoma		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ewing sarcoma	PMID:25741868
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Papillary thyroid cancer	PMID:25741868
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:4362	cervical cancer		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:5041	esophageal cancer		ISO	RGD:1322372	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:5183	hereditary Wilms' tumor		ISO	RGD:1322372	D	RGD:8554872	20240305	ClinVar		ClinVar Annotator: match by term: Predisposition to Wilms tumor, CTR9-related	PMID:25741868|PMID:28492532
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:630	genetic disease		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:35499524|PMID:35717577
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CTR9-related neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:17576681|PMID:25099282|PMID:25741868|PMID:28492532|PMID:29292210|PMID:35468861|PMID:35499524|PMID:35717577|PMID:39293508|PMID:9536098
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:9007661	Dwarfism		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature	PMID:25741868
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8735700	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
8735738	Baat	bile acid-CoA:amino acid N-acyltransferase	gene	DOID:0014667	disease of metabolism	susceptibility	ISO	RGD:735913	D	RGD:9068941	20200609	RGD		familial hypercholanemia, OMIM:607748;DNA:transition: :226A>G (human)	PMID:12704386|REF_RGD_ID:734629
8735738	Baat	bile acid-CoA:amino acid N-acyltransferase	gene	DOID:0061180	familial hypercholanemia 3		ISO	RGD:735913	D	RGD:7240710	20210512	OMIM			
8735738	Baat	bile acid-CoA:amino acid N-acyltransferase	gene	DOID:0061180	familial hypercholanemia 3		ISO	RGD:735913	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BAAT-related condition | ClinVar Annotator: match by term: Bile acid conjugation defect 1 | ClinVar Annotator: match by term: HYPERCHOLANEMIA, FAMILIAL 3	PMID:17495420|PMID:25741868|PMID:28492532
8735738	Baat	bile acid-CoA:amino acid N-acyltransferase	gene	DOID:0061181	familial hypercholanemia 1		ISO	RGD:735913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholanemia, familial 1	PMID:17495420|PMID:25741868|PMID:28492532
8735738	Baat	bile acid-CoA:amino acid N-acyltransferase	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:735913	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:17182750|PMID:20301541
8735738	Baat	bile acid-CoA:amino acid N-acyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:735913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8735738	Baat	bile acid-CoA:amino acid N-acyltransferase	gene	DOID:1909	melanoma		ISO	RGD:735913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8735738	Baat	bile acid-CoA:amino acid N-acyltransferase	gene	DOID:3070	high grade glioma		ISO	RGD:735913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8735738	Baat	bile acid-CoA:amino acid N-acyltransferase	gene	DOID:3275	thymoma		ISO	RGD:735913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8735738	Baat	bile acid-CoA:amino acid N-acyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735738	Baat	bile acid-CoA:amino acid N-acyltransferase	gene	DOID:9004484	Sepsis		ISO	RGD:2190	D	RGD:9068941	20200609	RGD			PMID:7575455|REF_RGD_ID:69770
8735755	Eif3l	eukaryotic translation initiation factor 3 subunit L	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8735755	Eif3l	eukaryotic translation initiation factor 3 subunit L	gene	DOID:10534	stomach cancer		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8735755	Eif3l	eukaryotic translation initiation factor 3 subunit L	gene	DOID:1115	sarcoma		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8735755	Eif3l	eukaryotic translation initiation factor 3 subunit L	gene	DOID:1324	lung cancer		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8735755	Eif3l	eukaryotic translation initiation factor 3 subunit L	gene	DOID:3070	high grade glioma		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8735755	Eif3l	eukaryotic translation initiation factor 3 subunit L	gene	DOID:3275	thymoma		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8735755	Eif3l	eukaryotic translation initiation factor 3 subunit L	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8735755	Eif3l	eukaryotic translation initiation factor 3 subunit L	gene	DOID:4362	cervical cancer		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8735755	Eif3l	eukaryotic translation initiation factor 3 subunit L	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8735755	Eif3l	eukaryotic translation initiation factor 3 subunit L	gene	DOID:5041	esophageal cancer		ISO	RGD:1317885	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8735755	Eif3l	eukaryotic translation initiation factor 3 subunit L	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8735755	Eif3l	eukaryotic translation initiation factor 3 subunit L	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735755	Eif3l	eukaryotic translation initiation factor 3 subunit L	gene	DOID:6039	uveal melanoma		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8735755	Eif3l	eukaryotic translation initiation factor 3 subunit L	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8735755	Eif3l	eukaryotic translation initiation factor 3 subunit L	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8735776	Gtf2h3	general transcription factor IIH subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8735776	Gtf2h3	general transcription factor IIH subunit 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8735776	Gtf2h3	general transcription factor IIH subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1313552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8735776	Gtf2h3	general transcription factor IIH subunit 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8735776	Gtf2h3	general transcription factor IIH subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735776	Gtf2h3	general transcription factor IIH subunit 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8735776	Gtf2h3	general transcription factor IIH subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8735776	Gtf2h3	general transcription factor IIH subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8735776	Gtf2h3	general transcription factor IIH subunit 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8735794	Dnajb5	DnaJ heat shock protein family (Hsp40) member B5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8735794	Dnajb5	DnaJ heat shock protein family (Hsp40) member B5	gene	DOID:1115	sarcoma		ISO	RGD:1316654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8735794	Dnajb5	DnaJ heat shock protein family (Hsp40) member B5	gene	DOID:1324	lung cancer		ISO	RGD:1316654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8735794	Dnajb5	DnaJ heat shock protein family (Hsp40) member B5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8735794	Dnajb5	DnaJ heat shock protein family (Hsp40) member B5	gene	DOID:870	neuropathy		ISO	RGD:1316654	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:26257172
8735813	Fcrlb	Fc receptor like B	gene	DOID:1909	melanoma		ISO	RGD:1605583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8735846	Tmem218	transmembrane protein 218	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8735846	Tmem218	transmembrane protein 218	gene	DOID:0050576	Senior-Loken syndrome		ISO	RGD:1332286	D	RGD:9068941	20220825	MouseDO		OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615	
8735846	Tmem218	transmembrane protein 218	gene	DOID:0050777	Joubert syndrome		ISO	RGD:2293899	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:33791682
8735846	Tmem218	transmembrane protein 218	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8735846	Tmem218	transmembrane protein 218	gene	DOID:0070118	Meckel syndrome 4		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meckel syndrome, type 4	
8735846	Tmem218	transmembrane protein 218	gene	DOID:11054	urinary bladder cancer		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8735846	Tmem218	transmembrane protein 218	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735846	Tmem218	transmembrane protein 218	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8735846	Tmem218	transmembrane protein 218	gene	DOID:9004188	Joubert Syndrome 39		ISO	RGD:2293899	D	RGD:7240710	20211027	OMIM			
8735846	Tmem218	transmembrane protein 218	gene	DOID:9004188	Joubert Syndrome 39		ISO	RGD:2293899	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 39 | ClinVar Annotator: match by term: Joubert syndrome 39	PMID:25741868|PMID:35137054
8735846	Tmem218	transmembrane protein 218	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8735846	Tmem218	transmembrane protein 218	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8735864	Mro	maestro	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8735864	Mro	maestro	gene	DOID:10534	stomach cancer		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8735864	Mro	maestro	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8735864	Mro	maestro	gene	DOID:1115	sarcoma		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8735864	Mro	maestro	gene	DOID:3070	high grade glioma		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8735864	Mro	maestro	gene	DOID:3275	thymoma		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8735864	Mro	maestro	gene	DOID:4362	cervical cancer		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8735864	Mro	maestro	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8735864	Mro	maestro	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735864	Mro	maestro	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8735864	Mro	maestro	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1342837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8735864	Mro	maestro	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8735864	Mro	maestro	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8735886	Il1f10	interleukin 1 family member 10	gene	DOID:10534	stomach cancer		ISO	RGD:1313781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8735895	Sav1	salvador family WW domain containing protein 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1316338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
8735895	Sav1	salvador family WW domain containing protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316338	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8735895	Sav1	salvador family WW domain containing protein 1	gene	DOID:5353	colonic disease		ISO	RGD:1316339	D	RGD:9068941	20220825	MouseDO			
8735895	Sav1	salvador family WW domain containing protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316339	D	RGD:9068941	20220825	MouseDO		OMIM:114550	
8735895	Sav1	salvador family WW domain containing protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8735913	Gtpbp1	GTP binding protein 1	gene	DOID:0060058	lymphoma		ISO	RGD:1315559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8735913	Gtpbp1	GTP binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8735913	Gtpbp1	GTP binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1315559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8735913	Gtpbp1	GTP binding protein 1	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1315559	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:17576681|PMID:28492532|PMID:9536098
8735913	Gtpbp1	GTP binding protein 1	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1315559	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:16783378|PMID:17576681|PMID:18570303|PMID:18799783|PMID:22213678|PMID:25210889|PMID:28492532|PMID:9536098
8735913	Gtpbp1	GTP binding protein 1	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1315559	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:16783378|PMID:17576681|PMID:18570303|PMID:18799783|PMID:22213678|PMID:25210889|PMID:25741868|PMID:28492532|PMID:9536098
8735913	Gtpbp1	GTP binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1315559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8735913	Gtpbp1	GTP binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1315559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8735913	Gtpbp1	GTP binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8735913	Gtpbp1	GTP binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735913	Gtpbp1	GTP binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8735913	Gtpbp1	GTP binding protein 1	gene	DOID:9008751	NEURODEVELOPMENTAL DISORDER WITH CHARACTERISTIC FACIAL AND ECTODERMAL FEATURES AND TETRAPARESIS 1		ISO	RGD:1315559	D	RGD:7240710	20240918	OMIM			
8735913	Gtpbp1	GTP binding protein 1	gene	DOID:9008751	NEURODEVELOPMENTAL DISORDER WITH CHARACTERISTIC FACIAL AND ECTODERMAL FEATURES AND TETRAPARESIS 1		ISO	RGD:1315559	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CHARACTERISTIC FACIAL AND ECTODERMAL FEATURES AND TETRAPARESIS 1 | ClinVar Annotator: match by term: Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1	PMID:25741868
8735913	Gtpbp1	GTP binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8735913	Gtpbp1	GTP binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8735933	Tmem167b	transmembrane protein 167B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8735933	Tmem167b	transmembrane protein 167B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8735933	Tmem167b	transmembrane protein 167B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735940	Tex35	testis expressed 35	gene	DOID:3275	thymoma		ISO	RGD:1348676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8735940	Tex35	testis expressed 35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348676	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735940	Tex35	testis expressed 35	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8735963	Gnaq	G protein subunit alpha q	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8735963	Gnaq	G protein subunit alpha q	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8735963	Gnaq	G protein subunit alpha q	gene	DOID:0111529	familial multiple nevi flammei		ISO	RGD:731425	D	RGD:7240710	20180214	OMIM			
8735963	Gnaq	G protein subunit alpha q	gene	DOID:0111529	familial multiple nevi flammei		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial multiple nevi flammei	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
8735963	Gnaq	G protein subunit alpha q	gene	DOID:0111563	Sturge-Weber syndrome		ISO	RGD:731425	D	RGD:7240710	20180130	OMIM			
8735963	Gnaq	G protein subunit alpha q	gene	DOID:0111563	Sturge-Weber syndrome		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Encephalofacial angiomatosis | ClinVar Annotator: match by term: Sturge-Weber syndrome	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
8735963	Gnaq	G protein subunit alpha q	gene	DOID:10534	stomach cancer		ISO	RGD:731425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8735963	Gnaq	G protein subunit alpha q	gene	DOID:11294	arteriovenous malformation		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arteriovenous malformation	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
8735963	Gnaq	G protein subunit alpha q	gene	DOID:11782	astigmatism		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
8735963	Gnaq	G protein subunit alpha q	gene	DOID:12273	anisometropia		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anisometropia	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
8735963	Gnaq	G protein subunit alpha q	gene	DOID:1247	blood coagulation disease		ISO	RGD:731425	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9296496
8735963	Gnaq	G protein subunit alpha q	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1550022	D	RGD:9068941	20200609	RGD			PMID:9811897|REF_RGD_ID:1598475
8735963	Gnaq	G protein subunit alpha q	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1550022	D	RGD:9068941	20240425	MouseDO			
8735963	Gnaq	G protein subunit alpha q	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:731425	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16267159
8735963	Gnaq	G protein subunit alpha q	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
8735963	Gnaq	G protein subunit alpha q	gene	DOID:1682	congenital heart disease		ISO	RGD:731425	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9687499
8735963	Gnaq	G protein subunit alpha q	gene	DOID:1686	glaucoma		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Glaucoma	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
8735963	Gnaq	G protein subunit alpha q	gene	DOID:1826	epilepsy		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
8735963	Gnaq	G protein subunit alpha q	gene	DOID:1909	melanoma		ISO	RGD:731425	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:1328859|PMID:18719078|PMID:19078957|PMID:21083380|PMID:22253748|PMID:22653968|PMID:22733540|PMID:22808163|PMID:23656586|PMID:25157968|PMID:25188413|PMID:2549426|PMID:25741868
8735963	Gnaq	G protein subunit alpha q	gene	DOID:1909	melanoma		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
8735963	Gnaq	G protein subunit alpha q	gene	DOID:255	hemangioma		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
8735963	Gnaq	G protein subunit alpha q	gene	DOID:2926	Klippel-Trenaunay syndrome		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KTW syndrome	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
8735963	Gnaq	G protein subunit alpha q	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:731425	D	RGD:9068941	20210423	RGD			PMID:24518087|REF_RGD_ID:126781753
8735963	Gnaq	G protein subunit alpha q	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735963	Gnaq	G protein subunit alpha q	gene	DOID:5900	meningeal melanocytoma		ISO	RGD:731425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningeal melanocytoma	PMID:19936769|PMID:21487925|PMID:22307269|PMID:26744134|PMID:27993330|PMID:28499758|PMID:29891723|PMID:30204251|PMID:30352874|PMID:35804836
8735963	Gnaq	G protein subunit alpha q	gene	DOID:6000	congestive heart failure		ISO	RGD:1550022	D	RGD:9068941	20240425	MouseDO			
8735963	Gnaq	G protein subunit alpha q	gene	DOID:6000	congestive heart failure	disease_progression	ISO	RGD:731425	D	RGD:9068941	20210423	RGD		DNA:polymorphism:promoter:[-694C>T;-695G>T] (human)	PMID:17720980|REF_RGD_ID:126781754
8735963	Gnaq	G protein subunit alpha q	gene	DOID:6000	congestive heart failure	no_association	ISO	RGD:731425	D	RGD:9068941	20210423	RGD		DNA:polymorphisms:promoter:multiple	PMID:17720980|REF_RGD_ID:126781754
8735963	Gnaq	G protein subunit alpha q	gene	DOID:6039	uveal melanoma		ISO	RGD:731425	D	RGD:9068941	20260416	CTD		CTD Direct Evidence: marker/mechanism	PMID:22733540|PMID:26397223|PMID:27089179
8735963	Gnaq	G protein subunit alpha q	gene	DOID:630	genetic disease		ISO	RGD:731425	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8735963	Gnaq	G protein subunit alpha q	gene	DOID:8549	chronic ulcer of skin		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Skin ulcer	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
8735963	Gnaq	G protein subunit alpha q	gene	DOID:9000495	Tremor		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
8735963	Gnaq	G protein subunit alpha q	gene	DOID:9000590	Dyspnea		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
8735963	Gnaq	G protein subunit alpha q	gene	DOID:9000641	Pain		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pain	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
8735963	Gnaq	G protein subunit alpha q	gene	DOID:9001542	Albuminuria		ISO	RGD:731425	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16267159
8735963	Gnaq	G protein subunit alpha q	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PORT-WINE STAIN	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
8735963	Gnaq	G protein subunit alpha q	gene	DOID:9003507	Premature Birth		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
8735963	Gnaq	G protein subunit alpha q	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1550022	D	RGD:9068941	20200609	RGD			PMID:9811897|REF_RGD_ID:1598475
8735963	Gnaq	G protein subunit alpha q	gene	DOID:9005777	Nevus of Ota		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nevus of Ota	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
8735963	Gnaq	G protein subunit alpha q	gene	DOID:9006976	Erythema		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Erythema	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
8735963	Gnaq	G protein subunit alpha q	gene	DOID:9007722	Myoclonus		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
8735963	Gnaq	G protein subunit alpha q	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1550022	D	RGD:9068941	20200609	RGD			PMID:9687499|REF_RGD_ID:737757
8735963	Gnaq	G protein subunit alpha q	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:731425	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9687499
8735963	Gnaq	G protein subunit alpha q	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8735963	Gnaq	G protein subunit alpha q	gene	DOID:9423	blepharitis		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Blepharitis	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
8735963	Gnaq	G protein subunit alpha q	gene	DOID:9903	meibomian cyst		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Chalazion	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319099	D	RGD:9068941	20230323	RGD			PMID:26029872|REF_RGD_ID:158014899
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:0060260	ptosis		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:0080000	muscular disease		ISO	RGD:1319099	D	RGD:9068941	20200609	RGD			PMID:10760285|REF_RGD_ID:1580857
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:1059	intellectual disability		ISO	RGD:1319098	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:10629	microphthalmia		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25741868
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:10907	microcephaly		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:12859	choreatic disease		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:1324	lung cancer		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:1909	melanoma		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:3070	high grade glioma		ISO	RGD:1319098	D	RGD:9068941	20200609	RGD			PMID:15696967|REF_RGD_ID:1580007
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:3275	thymoma		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:4362	cervical cancer		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:543	dystonia		ISO	RGD:1319098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder | ClinVar Annotator: match by term: dystonia	PMID:25741868
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:630	genetic disease		ISO	RGD:1319098	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:9003133	Hypertelorism		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:9003163	Heart Block		ISO	RGD:1319099	D	RGD:9068941	20200609	RGD			PMID:10760285|REF_RGD_ID:1580857
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319098	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:32442410
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:9004866	Ataxia		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ataxia	
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:9005634	Tolchin-Le Caignec Syndrome		ISO	RGD:1319098	D	RGD:7240710	20200812	OMIM			
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:9005634	Tolchin-Le Caignec Syndrome		ISO	RGD:1319098	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND VARIABLE BONE DEFECTS | ClinVar Annotator: match by term: SOX6-related condition | ClinVar Annotator: match by term: TOLCHIN-LE CAIGNEC SYNDROME | ClinVar Annotator: match by term: Tolchin-Le Caignec syndrome	PMID:25741868|PMID:28492532|PMID:32442410
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1319099	D	RGD:9068941	20200609	RGD			PMID:16148004|REF_RGD_ID:1581307
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:9008582	Developmental Disease		ISO	RGD:1319098	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:9008675	Dyskinesias		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskinesia	
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8735993	Sox6	SRY-box transcription factor 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8736075	Znf529	zinc finger protein 529	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8736075	Znf529	zinc finger protein 529	gene	DOID:3275	thymoma		ISO	RGD:1353081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8736075	Znf529	zinc finger protein 529	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736075	Znf529	zinc finger protein 529	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8736082	Rcl1	RNA terminal phosphate cyclase like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8736082	Rcl1	RNA terminal phosphate cyclase like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8736082	Rcl1	RNA terminal phosphate cyclase like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8736082	Rcl1	RNA terminal phosphate cyclase like 1	gene	DOID:1115	sarcoma		ISO	RGD:1313278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8736082	Rcl1	RNA terminal phosphate cyclase like 1	gene	DOID:2468	psychotic disorder		ISO	RGD:1313278	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	
8736082	Rcl1	RNA terminal phosphate cyclase like 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1313278	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8736082	Rcl1	RNA terminal phosphate cyclase like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8736082	Rcl1	RNA terminal phosphate cyclase like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313278	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8736082	Rcl1	RNA terminal phosphate cyclase like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736082	Rcl1	RNA terminal phosphate cyclase like 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1313278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8736082	Rcl1	RNA terminal phosphate cyclase like 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1313278	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8736082	Rcl1	RNA terminal phosphate cyclase like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8736095	Ripor1	RHO family interacting cell polarization regulator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8736095	Ripor1	RHO family interacting cell polarization regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8736095	Ripor1	RHO family interacting cell polarization regulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8736095	Ripor1	RHO family interacting cell polarization regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8736095	Ripor1	RHO family interacting cell polarization regulator 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8736095	Ripor1	RHO family interacting cell polarization regulator 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8736095	Ripor1	RHO family interacting cell polarization regulator 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8736095	Ripor1	RHO family interacting cell polarization regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736095	Ripor1	RHO family interacting cell polarization regulator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8736095	Ripor1	RHO family interacting cell polarization regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8736095	Ripor1	RHO family interacting cell polarization regulator 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1606508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8736136	Hfm1	helicase for meiosis 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8736136	Hfm1	helicase for meiosis 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8736136	Hfm1	helicase for meiosis 1	gene	DOID:0070176	spermatogenic failure 4		ISO	RGD:1606438	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 4	
8736136	Hfm1	helicase for meiosis 1	gene	DOID:0080866	primary ovarian insufficiency 9		ISO	RGD:1606438	D	RGD:7240710	20180130	OMIM			
8736136	Hfm1	helicase for meiosis 1	gene	DOID:0080866	primary ovarian insufficiency 9		ISO	RGD:1606438	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 9 | ClinVar Annotator: match by term: Premature ovarian failure 9 | ClinVar Annotator: match by term: premature ovarian failure 9	PMID:25741868|PMID:35526155
8736136	Hfm1	helicase for meiosis 1	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1606438	D	RGD:8554872	20220927	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
8736136	Hfm1	helicase for meiosis 1	gene	DOID:14227	azoospermia		ISO	RGD:1606438	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Azoospermia	
8736136	Hfm1	helicase for meiosis 1	gene	DOID:1909	melanoma		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8736136	Hfm1	helicase for meiosis 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8736136	Hfm1	helicase for meiosis 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8736136	Hfm1	helicase for meiosis 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8736136	Hfm1	helicase for meiosis 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606438	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8736136	Hfm1	helicase for meiosis 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606438	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
8736136	Hfm1	helicase for meiosis 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8736136	Hfm1	helicase for meiosis 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8736201	Upk3a	uroplakin 3A	gene	DOID:10534	stomach cancer		ISO	RGD:1321651	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8736201	Upk3a	uroplakin 3A	gene	DOID:1115	sarcoma		ISO	RGD:1321651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8736201	Upk3a	uroplakin 3A	gene	DOID:14766	renal agenesis		ISO	RGD:1321651	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RENAL APLASIA	PMID:25741868|PMID:28492532
8736201	Upk3a	uroplakin 3A	gene	DOID:4362	cervical cancer		ISO	RGD:1321651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8736201	Upk3a	uroplakin 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736201	Upk3a	uroplakin 3A	gene	DOID:9003763	Renal Hypodysplasia/Aplasia 1		ISO	RGD:1321651	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1	PMID:25741868|PMID:27657687|PMID:28492532
8736201	Upk3a	uroplakin 3A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8736201	Upk3a	uroplakin 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8736201	Upk3a	uroplakin 3A	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1321652	D	RGD:9068941	20220825	MouseDO		OMIM:193000 | OMIM:314550 | OMIM:610878 | OMIM:613674 | OMIM:614317 | OMIM:614318 | OMIM:614319 | OMIM:614674 | OMIM:615390 | OMIM:615963	
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:737017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:1115	sarcoma		ISO	RGD:737017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:11832	visual epilepsy		ISO	RGD:737017	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:23266720
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:1184	nephrotic syndrome		ISO	RGD:2016	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney (rat)	PMID:19147991|REF_RGD_ID:2307223
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:737017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:14723	beta-ketothiolase deficiency		ISO	RGD:737017	D	RGD:7240710	20180130	OMIM			
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:14723	beta-ketothiolase deficiency		ISO	RGD:737017	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 3-ketothiolase deficiency | ClinVar Annotator: match by term: Alpha-methylacetoacetic aciduria | ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase	PMID:11161836|PMID:11914035|PMID:12754704|PMID:1346617|PMID:14518824|PMID:15128923|PMID:15877211|PMID:16199547|PMID:1627655|PMID:17236799|PMID:17576681|PMID:18511318|PMID:19763152|PMID:20046049|PMID:20156697|PMID:20157782|PMID:20307669|PMID:20488739|PMID:21483992|PMID:21669895|PMID:22406018|PMID:23430882|PMID:23920042|PMID:23958592|PMID:24516753|PMID:24517888|PMID:25085675|PMID:25559898|PMID:25640679|PMID:25741868|PMID:27748876|PMID:27928777|PMID:28220263|PMID:28255778|PMID:28492532|PMID:28689740|PMID:28726122|PMID:28875337|PMID:29624230|PMID:30026775|PMID:30393371|PMID:30626930|PMID:30835345|PMID:31156707|PMID:31268215|PMID:32778825|PMID:33708533|PMID:34001203|PMID:34298581|PMID:36787440|PMID:38853254|PMID:39505524|PMID:39519275|PMID:7728148|PMID:7728155|PMID:7749408|PMID:7907600|PMID:8103405|PMID:9090533|PMID:9536098|PMID:9744475
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:1826	epilepsy		ISO	RGD:737017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:31268215
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:737017	D	RGD:9068941	20200609	RGD		mRNA:increased expression:atherosclerotic lesions (human)	PMID:15961705|REF_RGD_ID:1581042
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:2978	carbohydrate metabolic disorder		ISO	RGD:737017	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:7617578|REF_RGD_ID:2326222
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:737017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:737017	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:737017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:783	end stage renal disease		ISO	RGD:2016	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney (rat)	PMID:19878707|REF_RGD_ID:2326081
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:783	end stage renal disease		ISO	RGD:737017	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19878707
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737017	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:9005627	Metabolic Brain Diseases		ISO	RGD:737017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic encephalopathy	PMID:25741868|PMID:31268215
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:9006253	Ketosis		ISO	RGD:737017	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ketoacidosis	PMID:11161836|PMID:11161837|PMID:11914035|PMID:15128923|PMID:15877211|PMID:16199547|PMID:17236799|PMID:20046049|PMID:20156697|PMID:20157782|PMID:21669895|PMID:23958592|PMID:25741868|PMID:27264805|PMID:27748876|PMID:27928777|PMID:28220263|PMID:28255778|PMID:28492532|PMID:28689740|PMID:28726122|PMID:31268215|PMID:7728148|PMID:7728155|PMID:7749408|PMID:7907600|PMID:9090533
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8736224	Acat1	acetyl-CoA acetyltransferase 1	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:10060	D	RGD:9068941	20231019	RGD			PMID:27813192|REF_RGD_ID:401842386
8736249	Neb	nebulin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8736249	Neb	nebulin	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1322432	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy	PMID:25741868
8736249	Neb	nebulin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8736249	Neb	nebulin	gene	DOID:0060320	inguinal hernia		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868|PMID:26467025|PMID:28492532
8736249	Neb	nebulin	gene	DOID:0070336	arthrogryposis multiplex congenita-6		ISO	RGD:1322432	D	RGD:7240710	20210616	OMIM			
8736249	Neb	nebulin	gene	DOID:0070336	arthrogryposis multiplex congenita-6		ISO	RGD:1322432	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA 6 | ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 | ClinVar Annotator: match by term: NEB-related disorder	PMID:10051637|PMID:16199547|PMID:16917880|PMID:17576681|PMID:18414213|PMID:23572184|PMID:24033266|PMID:25079567|PMID:25110572|PMID:25205138|PMID:25214167|PMID:25525159|PMID:25741868|PMID:25741874|PMID:26467025|PMID:27105866|PMID:27854218|PMID:28131200|PMID:28424332|PMID:28492532|PMID:28600779|PMID:29070751|PMID:29274205|PMID:30467404|PMID:30919572|PMID:32222963|PMID:32403337|PMID:33333461|PMID:34853893|PMID:40661861|PMID:9536098
8736249	Neb	nebulin	gene	DOID:0110928	nemaline myopathy 2		ISO	RGD:1322432	D	RGD:7240710	20180130	OMIM			
8736249	Neb	nebulin	gene	DOID:0110928	nemaline myopathy 2		ISO	RGD:1322432	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive	PMID:10051637|PMID:10931867|PMID:11309420|PMID:11851340|PMID:11994971|PMID:12207938|PMID:15221447|PMID:15266303|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:18414213|PMID:19232495|PMID:19339519|PMID:19346529|PMID:19763152|PMID:19805734|PMID:19944167|PMID:20307669|PMID:21148390|PMID:21350120|PMID:21520333|PMID:21724397|PMID:21798101|PMID:22183965|PMID:22367672|PMID:22406018|PMID:22941678|PMID:23010307|PMID:23441136|PMID:23443021|PMID:23555315|PMID:23572184|PMID:23715096|PMID:23726790|PMID:23826317|PMID:24033266|PMID:24046450|PMID:24056153|PMID:24725366|PMID:24753607|PMID:24972929|PMID:25079567|PMID:25110572|PMID:25203624|PMID:25205138|PMID:25205148|PMID:25214167|PMID:25296583|PMID:25332755|PMID:25356970|PMID:25473036|PMID:25525159|PMID:25589042|PMID:25589043|PMID:25640679|PMID:25740301|PMID:25741868|PMID:25741869|PMID:25741874|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26573135|PMID:26578207|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27066551|PMID:27074222|PMID:27105866|PMID:27168972|PMID:27357428|PMID:27739254|PMID:27854218|PMID:27884173|PMID:27902461|PMID:27933661|PMID:28131200|PMID:28132693|PMID:28336317|PMID:28357410|PMID:28391287|PMID:28403181|PMID:28424332|PMID:28492532|PMID:28600779|PMID:28977494|PMID:29070751|PMID:29172004|PMID:29246625|PMID:29274205|PMID:29382405|PMID:29389947|PMID:29644095|PMID:29669168|PMID:29689380|PMID:29754767|PMID:29792937|PMID:29947179|PMID:29961767|PMID:30057997|PMID:30192042|PMID:30265400|PMID:30369353|PMID:30467404|PMID:30517146|PMID:30679003|PMID:30859559|PMID:30919572|PMID:30950222|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31256874|PMID:31696431|PMID:31965297|PMID:32062132|PMID:32222963|PMID:32337335|PMID:32403337|PMID:32721234|PMID:32754643|PMID:33060286|PMID:33100332|PMID:33250842|PMID:33333461|PMID:33442022|PMID:33667896|PMID:33742171|PMID:33742414|PMID:34302381|PMID:34440373|PMID:34782754|PMID:35586607|PMID:36233295|PMID:36474027|PMID:7739042|PMID:9536098
8736249	Neb	nebulin	gene	DOID:0110928	nemaline myopathy 2		ISO	RGD:1322432	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy 2	PMID:10051637|PMID:10931867|PMID:11309420|PMID:11851340|PMID:11994971|PMID:12207938|PMID:15221447|PMID:15266303|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:18414213|PMID:19232495|PMID:19339519|PMID:19346529|PMID:19763152|PMID:19805734|PMID:19944167|PMID:20307669|PMID:21148390|PMID:21350120|PMID:21520333|PMID:21724397|PMID:21798101|PMID:22183965|PMID:22367672|PMID:22406018|PMID:22941678|PMID:23010307|PMID:23441136|PMID:23443021|PMID:23555315|PMID:23572184|PMID:23715096|PMID:23726790|PMID:23826317|PMID:24033266|PMID:24046450|PMID:24056153|PMID:24725366|PMID:24753607|PMID:24972929|PMID:25079567|PMID:25110572|PMID:25203624|PMID:25205138|PMID:25205148|PMID:25214167|PMID:25296583|PMID:25332755|PMID:25356970|PMID:25473036|PMID:25525159|PMID:25589042|PMID:25589043|PMID:25640679|PMID:25740301|PMID:25741868|PMID:25741869|PMID:25741874|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26573135|PMID:26578207|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27066551|PMID:27074222|PMID:27105866|PMID:27168972|PMID:27357428|PMID:27739254|PMID:27854218|PMID:27884173|PMID:27902461|PMID:27933661|PMID:28131200|PMID:28132693|PMID:28336317|PMID:28357410|PMID:28391287|PMID:28403181|PMID:28424332|PMID:28492532|PMID:28600779|PMID:28977494|PMID:29070751|PMID:29172004|PMID:29246625|PMID:29274205|PMID:29382405|PMID:29389947|PMID:29644095|PMID:29669168|PMID:29689380|PMID:29754767|PMID:29792937|PMID:29947179|PMID:29961767|PMID:30057997|PMID:30192042|PMID:30265400|PMID:30369353|PMID:30467404|PMID:30517146|PMID:30679003|PMID:30859559|PMID:30919572|PMID:30950222|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31256874|PMID:31696431|PMID:31965297|PMID:31980526|PMID:32062132|PMID:32222963|PMID:32337335|PMID:32403337|PMID:32721234|PMID:32754643|PMID:33060286|PMID:33100332|PMID:33250842|PMID:33333461|PMID:33442022|PMID:33667896|PMID:33742171|PMID:33742414|PMID:34302381|PMID:34426522|PMID:34440373|PMID:34782754|PMID:34950897|PMID:35081925|PMID:35586607|PMID:36233295|PMID:36474027|PMID:38187705|PMID:7739042|PMID:9536098
8736249	Neb	nebulin	gene	DOID:0110928	nemaline myopathy 2		ISO	RGD:1322432	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the nebulin gene	PMID:10051637|PMID:10931867|PMID:11309420|PMID:11851340|PMID:11994971|PMID:12207938|PMID:15221447|PMID:15266303|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:18414213|PMID:19232495|PMID:19339519|PMID:19346529|PMID:19763152|PMID:19805734|PMID:19944167|PMID:20307669|PMID:21148390|PMID:21350120|PMID:21520333|PMID:21724397|PMID:21798101|PMID:22183965|PMID:22367672|PMID:22406018|PMID:22941678|PMID:23010307|PMID:23441136|PMID:23443021|PMID:23555315|PMID:23572184|PMID:23715096|PMID:23726790|PMID:23826317|PMID:24033266|PMID:24046450|PMID:24056153|PMID:24725366|PMID:24753607|PMID:24972929|PMID:25079567|PMID:25110572|PMID:25203624|PMID:25205138|PMID:25205148|PMID:25214167|PMID:25296583|PMID:25332755|PMID:25356970|PMID:25473036|PMID:25525159|PMID:25589042|PMID:25589043|PMID:25640679|PMID:25740301|PMID:25741868|PMID:25741869|PMID:25741874|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26573135|PMID:26578207|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27066551|PMID:27074222|PMID:27105866|PMID:27168972|PMID:27357428|PMID:27739254|PMID:27854218|PMID:27884173|PMID:27902461|PMID:27933661|PMID:28131200|PMID:28132693|PMID:28336317|PMID:28357410|PMID:28391287|PMID:28403181|PMID:28424332|PMID:28492532|PMID:28600779|PMID:28977494|PMID:29070751|PMID:29172004|PMID:29246625|PMID:29274205|PMID:29382405|PMID:29389947|PMID:29644095|PMID:29669168|PMID:29689380|PMID:29754767|PMID:29792937|PMID:29947179|PMID:29961767|PMID:30057997|PMID:30192042|PMID:30265400|PMID:30369353|PMID:30467404|PMID:30517146|PMID:30679003|PMID:30859559|PMID:30919572|PMID:30950222|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31256874|PMID:31696431|PMID:31965297|PMID:31980526|PMID:32062132|PMID:32222963|PMID:32337335|PMID:32403337|PMID:32721234|PMID:32754643|PMID:33060286|PMID:33100332|PMID:33250842|PMID:33333461|PMID:33442022|PMID:33667896|PMID:33742171|PMID:33742414|PMID:34302381|PMID:34426522|PMID:34440373|PMID:34782754|PMID:34950897|PMID:35081925|PMID:35586607|PMID:36233295|PMID:36474027|PMID:36697461|PMID:38187705|PMID:7739042|PMID:9536098
8736249	Neb	nebulin	gene	DOID:0110928	nemaline myopathy 2		ISO	RGD:1322432	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy 2	PMID:10051637|PMID:10838258|PMID:10931867|PMID:11309420|PMID:11851340|PMID:11994971|PMID:12207938|PMID:15221447|PMID:15266303|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:18414213|PMID:19232495|PMID:19339519|PMID:19346529|PMID:19763152|PMID:19805734|PMID:19944167|PMID:20307669|PMID:21148390|PMID:21350120|PMID:21520333|PMID:21724397|PMID:21798101|PMID:22183965|PMID:22367672|PMID:22406018|PMID:22941678|PMID:23010307|PMID:23441136|PMID:23443021|PMID:23555315|PMID:23572184|PMID:23715096|PMID:23726790|PMID:23826317|PMID:24033266|PMID:24046450|PMID:24056153|PMID:24725366|PMID:24753607|PMID:24972929|PMID:25079567|PMID:25110572|PMID:25203624|PMID:25205138|PMID:25205148|PMID:25214167|PMID:25296583|PMID:25332755|PMID:25356899|PMID:25356970|PMID:25473036|PMID:25525159|PMID:25589042|PMID:25589043|PMID:25640679|PMID:25740301|PMID:25741868|PMID:25741869|PMID:25741874|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26573135|PMID:26578207|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27066551|PMID:27074222|PMID:27105866|PMID:27168972|PMID:27357428|PMID:27739254|PMID:27854218|PMID:27884173|PMID:27902461|PMID:27933661|PMID:28131200|PMID:28132693|PMID:28336317|PMID:28357410|PMID:28391287|PMID:28403181|PMID:28424332|PMID:28492532|PMID:28600779|PMID:28977494|PMID:29070751|PMID:29172004|PMID:29246625|PMID:29274205|PMID:29382405|PMID:29389947|PMID:29644095|PMID:29669168|PMID:29689380|PMID:29754767|PMID:29792937|PMID:29947179|PMID:29961767|PMID:29970176|PMID:30057997|PMID:30192042|PMID:30265400|PMID:30369353|PMID:30467404|PMID:30517146|PMID:30679003|PMID:30859559|PMID:30919572|PMID:30950222|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31256874|PMID:31370824|PMID:31696431|PMID:31965297|PMID:31980526|PMID:32004447|PMID:32062132|PMID:32222963|PMID:32337335|PMID:32343762|PMID:32403337|PMID:32420686|PMID:32721234|PMID:32754643|PMID:33060286|PMID:33100332|PMID:33250842|PMID:33333461|PMID:33442022|PMID:33667896|PMID:33742171|PMID:33742414|PMID:34302381|PMID:34426522|PMID:34440373|PMID:34782754|PMID:34853893|PMID:34950897|PMID:35081925|PMID:35586607|PMID:36233295|PMID:36474027|PMID:36697461|PMID:36714460|PMID:37667433|PMID:38187705|PMID:7739042|PMID:9536098
8736249	Neb	nebulin	gene	DOID:0110928	nemaline myopathy 2		ISO	RGD:1322432	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the nebulin gene	PMID:10051637|PMID:10838258|PMID:10931867|PMID:11309420|PMID:11851340|PMID:11994971|PMID:12207938|PMID:15221447|PMID:15266303|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:18414213|PMID:19232495|PMID:19339519|PMID:19346529|PMID:19763152|PMID:19805734|PMID:19944167|PMID:20307669|PMID:21148390|PMID:21350120|PMID:21520333|PMID:21724397|PMID:21798101|PMID:22183965|PMID:22367672|PMID:22406018|PMID:22941678|PMID:23010307|PMID:23441136|PMID:23443021|PMID:23555315|PMID:23572184|PMID:23715096|PMID:23726790|PMID:23826317|PMID:24033266|PMID:24046450|PMID:24056153|PMID:24725366|PMID:24753607|PMID:24972929|PMID:25079567|PMID:25110572|PMID:25203624|PMID:25205138|PMID:25205148|PMID:25214167|PMID:25296583|PMID:25332755|PMID:25356899|PMID:25356970|PMID:25473036|PMID:25525159|PMID:25589042|PMID:25589043|PMID:25640679|PMID:25740301|PMID:25741868|PMID:25741869|PMID:25741874|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26573135|PMID:26578207|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27066551|PMID:27074222|PMID:27105866|PMID:27168972|PMID:27357428|PMID:27739254|PMID:27854218|PMID:27884173|PMID:27902461|PMID:27933661|PMID:28131200|PMID:28132693|PMID:28336317|PMID:28357410|PMID:28391287|PMID:28403181|PMID:28424332|PMID:28492532|PMID:28600779|PMID:28977494|PMID:29070751|PMID:29172004|PMID:29246625|PMID:29274205|PMID:29382405|PMID:29389947|PMID:29644095|PMID:29669168|PMID:29689380|PMID:29754767|PMID:29792937|PMID:29947179|PMID:29961767|PMID:29970176|PMID:30057997|PMID:30192042|PMID:30265400|PMID:30369353|PMID:30467404|PMID:30517146|PMID:30679003|PMID:30859559|PMID:30919572|PMID:30950222|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31256874|PMID:31370824|PMID:31696431|PMID:31965297|PMID:31980526|PMID:32004447|PMID:32062132|PMID:32222963|PMID:32337335|PMID:32343762|PMID:32403337|PMID:32420686|PMID:32721234|PMID:32754643|PMID:33060286|PMID:33100332|PMID:33250842|PMID:33333461|PMID:33442022|PMID:33667896|PMID:33742171|PMID:33742414|PMID:34302381|PMID:34426522|PMID:34440373|PMID:34782754|PMID:34853893|PMID:34950897|PMID:35081925|PMID:35586607|PMID:36233295|PMID:36474027|PMID:36697461|PMID:36714460|PMID:37667433|PMID:38187705|PMID:38438125|PMID:38544359|PMID:7739042|PMID:9536098
8736249	Neb	nebulin	gene	DOID:0110928	nemaline myopathy 2		ISO	RGD:1322432	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive	PMID:10051637|PMID:10838258|PMID:10931867|PMID:11309420|PMID:11851340|PMID:11994971|PMID:12207938|PMID:15221447|PMID:15266303|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:18414213|PMID:19232495|PMID:19339519|PMID:19346529|PMID:19763152|PMID:19805734|PMID:19944167|PMID:20307669|PMID:21148390|PMID:21350120|PMID:21520333|PMID:21724397|PMID:21798101|PMID:22183965|PMID:22367672|PMID:22406018|PMID:22941678|PMID:23010307|PMID:23394784|PMID:23441136|PMID:23443021|PMID:23555315|PMID:23572184|PMID:23715096|PMID:23726790|PMID:23826317|PMID:24033266|PMID:24046450|PMID:24056153|PMID:24725366|PMID:24753607|PMID:24972929|PMID:25079567|PMID:25110572|PMID:25203624|PMID:25205138|PMID:25205148|PMID:25214167|PMID:25296583|PMID:25332755|PMID:25356899|PMID:25356970|PMID:25473036|PMID:25525159|PMID:25589042|PMID:25589043|PMID:25640679|PMID:25740301|PMID:25741868|PMID:25741869|PMID:25741874|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26573135|PMID:26578207|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27066551|PMID:27074222|PMID:27105866|PMID:27168972|PMID:27357428|PMID:27363342|PMID:27739254|PMID:27854218|PMID:27884173|PMID:27902461|PMID:27933661|PMID:28131200|PMID:28132693|PMID:28336317|PMID:28357410|PMID:28391287|PMID:28403181|PMID:28424332|PMID:28492532|PMID:28600779|PMID:28977494|PMID:29070751|PMID:29172004|PMID:29246625|PMID:29274205|PMID:29382405|PMID:29389947|PMID:29644095|PMID:29669168|PMID:29689380|PMID:29754767|PMID:29792937|PMID:29947179|PMID:29961767|PMID:29970176|PMID:30057997|PMID:30192042|PMID:30265400|PMID:30369353|PMID:30467404|PMID:30517146|PMID:30679003|PMID:30859559|PMID:30919572|PMID:30950222|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31256874|PMID:31370824|PMID:31696431|PMID:31965297|PMID:31980526|PMID:32004447|PMID:32062132|PMID:32153140|PMID:32222963|PMID:32337335|PMID:32343762|PMID:32403337|PMID:32420686|PMID:32721234|PMID:32754643|PMID:33060286|PMID:33100332|PMID:33250842|PMID:33333461|PMID:33442022|PMID:33667896|PMID:33742171|PMID:33742414|PMID:34302381|PMID:34426522|PMID:34440373|PMID:34782754|PMID:34853893|PMID:34950897|PMID:35081925|PMID:35586607|PMID:36233295|PMID:36474027|PMID:36697461|PMID:36714460|PMID:37667433|PMID:38187705|PMID:38438125|PMID:38544359|PMID:38634969|PMID:7739042|PMID:9536098
8736249	Neb	nebulin	gene	DOID:0110928	nemaline myopathy 2		ISO	RGD:1322432	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive	PMID:10838258|PMID:15221447|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:18414213|PMID:19232495|PMID:19346529|PMID:19763152|PMID:19944167|PMID:20307669|PMID:21350120|PMID:21520333|PMID:21724397|PMID:21798101|PMID:22183965|PMID:22367672|PMID:22406018|PMID:23010307|PMID:23441136|PMID:23443021|PMID:23555315|PMID:23572184|PMID:23715096|PMID:23726790|PMID:23826317|PMID:24033266|PMID:24725366|PMID:24753607|PMID:25079567|PMID:25110572|PMID:25203624|PMID:25205138|PMID:25205148|PMID:25214167|PMID:25296583|PMID:25473036|PMID:25525159|PMID:25589043|PMID:25640679|PMID:25740301|PMID:25741868|PMID:25741869|PMID:25741874|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26573135|PMID:26578207|PMID:26841830|PMID:27074222|PMID:27105866|PMID:27168972|PMID:27739254|PMID:27854218|PMID:27902461|PMID:27933661|PMID:28131200|PMID:28336317|PMID:28357410|PMID:28391287|PMID:28403181|PMID:28424332|PMID:28492532|PMID:28600779|PMID:28977494|PMID:29070751|PMID:29172004|PMID:29274205|PMID:29382405|PMID:29389947|PMID:29669168|PMID:29792937|PMID:29970176|PMID:30057997|PMID:30192042|PMID:30369353|PMID:30467404|PMID:30679003|PMID:30859559|PMID:30919572|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31370824|PMID:32004447|PMID:32062132|PMID:32153140|PMID:32222963|PMID:32343762|PMID:32403337|PMID:32721234|PMID:32754643|PMID:33060286|PMID:33100332|PMID:33250842|PMID:33333461|PMID:33442022|PMID:33667896|PMID:33742171|PMID:33742414|PMID:34302381|PMID:34440373|PMID:34782754|PMID:34853893|PMID:34950897|PMID:35081925|PMID:36233295|PMID:36474027|PMID:36714460|PMID:37667433|PMID:38438125|PMID:38544359|PMID:38634969|PMID:9536098
8736249	Neb	nebulin	gene	DOID:0110928	nemaline myopathy 2		ISO	RGD:1322432	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEMALINE MYOPATHY 2 | ClinVar Annotator: match by term: Nemaline myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive | ClinVar Annotator: match by term: Nemaline myopathy type 2	PMID:10051637|PMID:15221447|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:18414213|PMID:19232495|PMID:19763152|PMID:20307669|PMID:21350120|PMID:21520333|PMID:21724397|PMID:21798101|PMID:22367672|PMID:22406018|PMID:22941215|PMID:23010307|PMID:23555315|PMID:23572184|PMID:23715096|PMID:23826317|PMID:24033266|PMID:24725366|PMID:25079567|PMID:25110572|PMID:25203624|PMID:25205138|PMID:25205148|PMID:25214167|PMID:25296583|PMID:25473036|PMID:25525159|PMID:25589043|PMID:25640679|PMID:25740301|PMID:25741868|PMID:25741869|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26573135|PMID:26578207|PMID:26841830|PMID:27074222|PMID:27105866|PMID:27168972|PMID:27854218|PMID:27933661|PMID:28131200|PMID:28336317|PMID:28357410|PMID:28403181|PMID:28424332|PMID:28492532|PMID:28600779|PMID:28720891|PMID:28977494|PMID:29070751|PMID:29274205|PMID:29382405|PMID:29389947|PMID:29644095|PMID:29669168|PMID:29792937|PMID:30057997|PMID:30192042|PMID:30369353|PMID:30467404|PMID:30679003|PMID:30859559|PMID:30919572|PMID:31069529|PMID:31127727|PMID:31230720|PMID:32062132|PMID:32153140|PMID:32222963|PMID:32403337|PMID:32721234|PMID:33060286|PMID:33333461|PMID:33442022|PMID:33667896|PMID:33742171|PMID:33742414|PMID:33820833|PMID:33966749|PMID:34302381|PMID:34440373|PMID:34782754|PMID:34853893|PMID:35081925|PMID:36233295|PMID:36360323|PMID:36714460|PMID:37265148|PMID:37460656|PMID:37525074|PMID:38187705|PMID:38438125|PMID:38544359|PMID:38968056|PMID:38982518|PMID:39194158|PMID:40661861|PMID:9536098
8736249	Neb	nebulin	gene	DOID:10376	amblyopia		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868|PMID:26467025|PMID:28492532
8736249	Neb	nebulin	gene	DOID:10534	stomach cancer		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8736249	Neb	nebulin	gene	DOID:10907	microcephaly		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8736249	Neb	nebulin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8736249	Neb	nebulin	gene	DOID:11162	respiratory failure		ISO	RGD:1322432	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25205138|PMID:28492532
8736249	Neb	nebulin	gene	DOID:11782	astigmatism		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:26467025|PMID:28492532
8736249	Neb	nebulin	gene	DOID:11836	clubfoot		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	PMID:25741868
8736249	Neb	nebulin	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25205138|PMID:28492532
8736249	Neb	nebulin	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868
8736249	Neb	nebulin	gene	DOID:1324	lung cancer		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8736249	Neb	nebulin	gene	DOID:1596	depressive disorder		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
8736249	Neb	nebulin	gene	DOID:1657	ventricular septal defect		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:26467025|PMID:28492532
8736249	Neb	nebulin	gene	DOID:1909	melanoma		ISO	RGD:1322432	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
8736249	Neb	nebulin	gene	DOID:2030	anxiety disorder		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
8736249	Neb	nebulin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322432	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8736249	Neb	nebulin	gene	DOID:2841	asthma		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25205138|PMID:28492532
8736249	Neb	nebulin	gene	DOID:3081	cystic lymphangioma		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cystic hygroma	PMID:25741868
8736249	Neb	nebulin	gene	DOID:3191	nemaline myopathy		ISO	RGD:1322432	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Nemaline Myopathy, Dominant | ClinVar Annotator: match by term: Nemaline Myopathy, Recessive | ClinVar Annotator: match by term: Nemaline myopathy	PMID:12207938|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:19232495|PMID:19805734|PMID:19944167|PMID:21798101|PMID:22281206|PMID:22367672|PMID:23010307|PMID:23443021|PMID:23572184|PMID:23715096|PMID:24056153|PMID:25079567|PMID:25110572|PMID:25205138|PMID:25205148|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27105866|PMID:27168972|PMID:27933661|PMID:28132693|PMID:28424332|PMID:28492532|PMID:28977494|PMID:29246625|PMID:29382405|PMID:29389947|PMID:29644095|PMID:30057997|PMID:30467404|PMID:30859559|PMID:32222963|PMID:32721234|PMID:33742171|PMID:9536098
8736249	Neb	nebulin	gene	DOID:3191	nemaline myopathy		ISO	RGD:1322432	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopathies, Nemaline | ClinVar Annotator: match by term: Nemaline Myopathy | ClinVar Annotator: match by term: Nemaline myopathy	PMID:16199547|PMID:16917880|PMID:17576681|PMID:19232495|PMID:22281206|PMID:23010307|PMID:23443021|PMID:23715096|PMID:23826317|PMID:24725366|PMID:25205138|PMID:25525159|PMID:25741868|PMID:27105866|PMID:27854218|PMID:28424332|PMID:28492532|PMID:29644095|PMID:30517146|PMID:31690835|PMID:32403337|PMID:33333461|PMID:38634969|PMID:40661861|PMID:5221447|PMID:9536098
8736249	Neb	nebulin	gene	DOID:422	congenital structural myopathy		ISO	RGD:1322432	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: congenital structural myopathy	PMID:25741868|PMID:28492532
8736249	Neb	nebulin	gene	DOID:4362	cervical cancer		ISO	RGD:1322432	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8736249	Neb	nebulin	gene	DOID:5041	esophageal cancer		ISO	RGD:1322432	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8736249	Neb	nebulin	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8736249	Neb	nebulin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322432	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8736249	Neb	nebulin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322432	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8736249	Neb	nebulin	gene	DOID:630	genetic disease		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8736249	Neb	nebulin	gene	DOID:674	cleft palate		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
8736249	Neb	nebulin	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:28492532
8736249	Neb	nebulin	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1322432	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532
8736249	Neb	nebulin	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:26467025|PMID:28492532
8736249	Neb	nebulin	gene	DOID:9001733	Tinnitus		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25205138|PMID:25741868|PMID:28492532
8736249	Neb	nebulin	gene	DOID:9002580	Metatarsus Varus		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metatarsus adductus	PMID:25741868|PMID:28492532
8736249	Neb	nebulin	gene	DOID:9003539	Hyperacusis		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25205138|PMID:25741868|PMID:28492532
8736249	Neb	nebulin	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8736249	Neb	nebulin	gene	DOID:9004538	Hearing Loss		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8736249	Neb	nebulin	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1322432	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:16199547|PMID:25205138|PMID:25741868|PMID:28492532
8736249	Neb	nebulin	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1322432	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:28492532
8736249	Neb	nebulin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:26467025|PMID:28492532
8736249	Neb	nebulin	gene	DOID:9005883	Pleural Effusion		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pleural effusion	PMID:25741868
8736249	Neb	nebulin	gene	DOID:9006095	Ascites		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ascites	PMID:25741868
8736249	Neb	nebulin	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
8736249	Neb	nebulin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322432	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8736249	Neb	nebulin	gene	DOID:9007661	Dwarfism		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:26467025|PMID:28492532
8736249	Neb	nebulin	gene	DOID:9007736	Vertigo		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25205138|PMID:28492532
8736249	Neb	nebulin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:26467025|PMID:28492532
8736249	Neb	nebulin	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	PMID:25741868
8736249	Neb	nebulin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8736249	Neb	nebulin	gene	DOID:9834	hyperopia		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25205138|PMID:28492532
8736249	Neb	nebulin	gene	DOID:9840	esotropia		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868|PMID:26467025|PMID:28492532
8736249	Neb	nebulin	gene	DOID:9884	muscular dystrophy		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868
8736408	Coq10a	coenzyme Q10A	gene	DOID:4362	cervical cancer		ISO	RGD:1602309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8736408	Coq10a	coenzyme Q10A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1602309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8736408	Coq10a	coenzyme Q10A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8736408	Coq10a	coenzyme Q10A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8736420	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8736420	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8736420	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:10534	stomach cancer		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8736420	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:1115	sarcoma		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8736420	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:1324	lung cancer		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8736420	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:1606777	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type	PMID:25741868
8736420	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:1909	melanoma		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8736420	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8736420	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:3070	high grade glioma		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8736420	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8736420	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:4362	cervical cancer		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8736420	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:5041	esophageal cancer		ISO	RGD:1606777	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8736420	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736420	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8736420	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8736420	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8736453	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8736453	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8736453	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:0080636	syndromic microphthalmia		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic microphthalmia	PMID:25741868|PMID:38242088
8736453	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:10534	stomach cancer		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8736453	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:1115	sarcoma		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8736453	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:1324	lung cancer		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8736453	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:1686	glaucoma		ISO	RGD:1312950	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Glaucoma	PMID:25741868
8736453	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:1909	melanoma		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8736453	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8736453	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8736453	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:4362	cervical cancer		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8736453	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8736453	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1312950	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8736453	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736453	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8736453	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:9004657	Weight Gain		ISO	RGD:1312950	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8736453	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8736453	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8736453	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8736453	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:9256	colorectal cancer		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8736502	Adap1	ArfGAP with dual PH domains 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8736502	Adap1	ArfGAP with dual PH domains 1	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:733651	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:37156999
8736502	Adap1	ArfGAP with dual PH domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8736502	Adap1	ArfGAP with dual PH domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8736502	Adap1	ArfGAP with dual PH domains 1	gene	DOID:1115	sarcoma		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8736502	Adap1	ArfGAP with dual PH domains 1	gene	DOID:2394	ovarian cancer		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8736502	Adap1	ArfGAP with dual PH domains 1	gene	DOID:3275	thymoma		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8736502	Adap1	ArfGAP with dual PH domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8736502	Adap1	ArfGAP with dual PH domains 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8736502	Adap1	ArfGAP with dual PH domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733651	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8736502	Adap1	ArfGAP with dual PH domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736502	Adap1	ArfGAP with dual PH domains 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8736502	Adap1	ArfGAP with dual PH domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8736502	Adap1	ArfGAP with dual PH domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8736520	Rpl22	ribosomal protein L22	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8736520	Rpl22	ribosomal protein L22	gene	DOID:10534	stomach cancer		ISO	RGD:733560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8736520	Rpl22	ribosomal protein L22	gene	DOID:1909	melanoma		ISO	RGD:733560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8736520	Rpl22	ribosomal protein L22	gene	DOID:2394	ovarian cancer		ISO	RGD:733560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8736520	Rpl22	ribosomal protein L22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736520	Rpl22	ribosomal protein L22	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8736520	Rpl22	ribosomal protein L22	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:22976955|PMID:24132290|PMID:25196364|PMID:27993330|PMID:29207594|PMID:29222326
8736542	Mgat5b	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B	gene	DOID:1115	sarcoma		ISO	RGD:1313067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8736542	Mgat5b	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1313067	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8736542	Mgat5b	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B	gene	DOID:1324	lung cancer		ISO	RGD:1313067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8736542	Mgat5b	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B	gene	DOID:1909	melanoma		ISO	RGD:1313067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8736542	Mgat5b	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736542	Mgat5b	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B	gene	DOID:6039	uveal melanoma		ISO	RGD:1313067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8736542	Mgat5b	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8736542	Mgat5b	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8736566	Cdr2l	cerebellar degeneration related protein 2 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8736566	Cdr2l	cerebellar degeneration related protein 2 like	gene	DOID:3275	thymoma		ISO	RGD:1602123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8736566	Cdr2l	cerebellar degeneration related protein 2 like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8736566	Cdr2l	cerebellar degeneration related protein 2 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1602123	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8736566	Cdr2l	cerebellar degeneration related protein 2 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736566	Cdr2l	cerebellar degeneration related protein 2 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8736566	Cdr2l	cerebellar degeneration related protein 2 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8736586	Crebzf	CREB/ATF bZIP transcription factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8736586	Crebzf	CREB/ATF bZIP transcription factor	gene	DOID:1324	lung cancer		ISO	RGD:1603614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8736586	Crebzf	CREB/ATF bZIP transcription factor	gene	DOID:1909	melanoma		ISO	RGD:1603614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8736586	Crebzf	CREB/ATF bZIP transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736592	Arf5	ARF GTPase 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8736592	Arf5	ARF GTPase 5	gene	DOID:1324	lung cancer		ISO	RGD:732462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8736592	Arf5	ARF GTPase 5	gene	DOID:1909	melanoma		ISO	RGD:732462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8736592	Arf5	ARF GTPase 5	gene	DOID:3070	high grade glioma		ISO	RGD:732462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8736592	Arf5	ARF GTPase 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8736592	Arf5	ARF GTPase 5	gene	DOID:5041	esophageal cancer		ISO	RGD:732462	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8736592	Arf5	ARF GTPase 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8736602	Bola1	bolA family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736607	Cdc14a	cell division cycle 14A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8736607	Cdc14a	cell division cycle 14A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8736607	Cdc14a	cell division cycle 14A	gene	DOID:0060058	lymphoma		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8736607	Cdc14a	cell division cycle 14A	gene	DOID:0110491	autosomal recessive nonsyndromic deafness 32		ISO	RGD:1312211	D	RGD:7240710	20190315	OMIM			
8736607	Cdc14a	cell division cycle 14A	gene	DOID:0110491	autosomal recessive nonsyndromic deafness 32		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CDC14A-related condition | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 32 | ClinVar Annotator: match by term: Deafness, autosomal recessive 32	PMID:24033266|PMID:25741868|PMID:26467025|PMID:27259055|PMID:28492532|PMID:29293958|PMID:31850270
8736607	Cdc14a	cell division cycle 14A	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1312211	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
8736607	Cdc14a	cell division cycle 14A	gene	DOID:10534	stomach cancer		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8736607	Cdc14a	cell division cycle 14A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8736607	Cdc14a	cell division cycle 14A	gene	DOID:1115	sarcoma		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8736607	Cdc14a	cell division cycle 14A	gene	DOID:12336	male infertility		ISO	RGD:1312211	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29293958
8736607	Cdc14a	cell division cycle 14A	gene	DOID:1324	lung cancer		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8736607	Cdc14a	cell division cycle 14A	gene	DOID:14228	oligospermia		ISO	RGD:1312211	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29293958
8736607	Cdc14a	cell division cycle 14A	gene	DOID:1909	melanoma		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8736607	Cdc14a	cell division cycle 14A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8736607	Cdc14a	cell division cycle 14A	gene	DOID:3275	thymoma		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8736607	Cdc14a	cell division cycle 14A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8736607	Cdc14a	cell division cycle 14A	gene	DOID:4362	cervical cancer		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8736607	Cdc14a	cell division cycle 14A	gene	DOID:5041	esophageal cancer		ISO	RGD:1312211	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8736607	Cdc14a	cell division cycle 14A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8736607	Cdc14a	cell division cycle 14A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8736607	Cdc14a	cell division cycle 14A	gene	DOID:630	genetic disease		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8736607	Cdc14a	cell division cycle 14A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8736607	Cdc14a	cell division cycle 14A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8736607	Cdc14a	cell division cycle 14A	gene	DOID:9008681	Deafness		ISO	RGD:1312211	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29293958
8736607	Cdc14a	cell division cycle 14A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8736607	Cdc14a	cell division cycle 14A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8736631	Ino80e	INO80 complex subunit E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8736631	Ino80e	INO80 complex subunit E	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1605827	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
8736631	Ino80e	INO80 complex subunit E	gene	DOID:10534	stomach cancer		ISO	RGD:1605827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8736631	Ino80e	INO80 complex subunit E	gene	DOID:5041	esophageal cancer		ISO	RGD:1605827	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8736631	Ino80e	INO80 complex subunit E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736631	Ino80e	INO80 complex subunit E	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8736631	Ino80e	INO80 complex subunit E	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8736669	Ptgds	prostaglandin D2 synthase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8736669	Ptgds	prostaglandin D2 synthase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8736669	Ptgds	prostaglandin D2 synthase	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:737496	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
8736669	Ptgds	prostaglandin D2 synthase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:3433	D	RGD:9068941	20200609	RGD		protein:decreased expression:cochlea:	PMID:23827367|REF_RGD_ID:7349365
8736669	Ptgds	prostaglandin D2 synthase	gene	DOID:10763	hypertension		ISO	RGD:737496	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, urine	PMID:11882588|REF_RGD_ID:1642584
8736669	Ptgds	prostaglandin D2 synthase	gene	DOID:1115	sarcoma		ISO	RGD:737496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8736669	Ptgds	prostaglandin D2 synthase	gene	DOID:11664	nephrosclerosis		ISO	RGD:737496	D	RGD:9068941	20200609	RGD		associated with Hypertension;protein:increased expression:serum, urine	PMID:11882588|REF_RGD_ID:1642584
8736669	Ptgds	prostaglandin D2 synthase	gene	DOID:1324	lung cancer		ISO	RGD:737496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8736669	Ptgds	prostaglandin D2 synthase	gene	DOID:2349	arteriosclerosis	susceptibility	ISO	RGD:11182	D	RGD:9068941	20200609	RGD			PMID:15970590|REF_RGD_ID:1642581
8736669	Ptgds	prostaglandin D2 synthase	gene	DOID:3407	carotid artery disease	susceptibility	ISO	RGD:737496	D	RGD:9068941	20200609	RGD		associated with Hypertension;DNA:polymorphism:3'utr:4111A>C	PMID:15325247|REF_RGD_ID:1642582
8736669	Ptgds	prostaglandin D2 synthase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8736669	Ptgds	prostaglandin D2 synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736669	Ptgds	prostaglandin D2 synthase	gene	DOID:9002165	Diabetic Nephropathies	susceptibility	ISO	RGD:11182	D	RGD:9068941	20200609	RGD			PMID:15970590|REF_RGD_ID:1642581
8736669	Ptgds	prostaglandin D2 synthase	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps	treatment	ISO	RGD:11182	D	RGD:9068941	20250904	RGD			PMID:23751068|REF_RGD_ID:626419675
8736669	Ptgds	prostaglandin D2 synthase	gene	DOID:9007692	Insulin Resistance	susceptibility	ISO	RGD:11182	D	RGD:9068941	20200609	RGD			PMID:15970590|REF_RGD_ID:1642581
8736669	Ptgds	prostaglandin D2 synthase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8736669	Ptgds	prostaglandin D2 synthase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:3433	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:16384826|REF_RGD_ID:1642580
8736686	Spmip7	sperm microtubule inner protein 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2902413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8736686	Spmip7	sperm microtubule inner protein 7	gene	DOID:1115	sarcoma		ISO	RGD:2902413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8736686	Spmip7	sperm microtubule inner protein 7	gene	DOID:3275	thymoma		ISO	RGD:2902413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:0050562	West syndrome		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:0050847	sleep apnea		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	PMID:26467025|PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:0050989	episodic ataxia type 1		ISO	RGD:1346938	D	RGD:7240710	20180130	OMIM			
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:0050989	episodic ataxia type 1		ISO	RGD:1346938	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPISODIC ATAXIA, TYPE 1 | ClinVar Annotator: match by term: Episodic ataxia type 1 | ClinVar Annotator: match by term: MYOKYMIA 1 WITH HYPOMAGNESEMIA | ClinVar Annotator: match by term: PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY	PMID:10355668|PMID:10414318|PMID:11013453|PMID:11026449|PMID:11746627|PMID:11773313|PMID:12408867|PMID:15351427|PMID:17114047|PMID:17136396|PMID:19528245|PMID:19779067|PMID:20301785|PMID:21307345|PMID:2245301|PMID:23349320|PMID:25741868|PMID:26395884|PMID:26467025|PMID:27864847|PMID:28216637|PMID:28492532|PMID:28666963|PMID:29056246|PMID:30055040|PMID:30140249|PMID:32139178|PMID:32316562|PMID:32331416|PMID:32577860|PMID:32705822|PMID:34418069|PMID:34778950|PMID:35146069|PMID:35897654|PMID:37152446|PMID:38570113|PMID:7842011|PMID:8541859|PMID:8845167|PMID:8871592|PMID:9526001|PMID:9714564
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:0060249	scoliosis		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:0060260	ptosis		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:0060320	inguinal hernia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:0080072	intestinal pseudo-obstruction		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intestinal pseudo-obstruction	
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:10480	diaphragmatic eventration		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diaphragmatic eventration	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1059	intellectual disability		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Mild intellectual disability	
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1074	kidney failure		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1115	sarcoma		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:11830	myopia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:12568	dyscalculia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyscalculia	PMID:25741868|PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:12642	hiatus hernia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hiatus hernia	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:12849	autistic disorder		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:12859	choreatic disease		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paroxysmal dyskinesia	PMID:25741868|PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1459	hypothyroidism		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1573	communicating hydrocephalus		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Communicating hydrocephalus	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1591	renovascular hypertension		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renovascular hypertension	
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1596	depressive disorder		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1686	glaucoma		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1724	duodenal ulcer		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Duodenal ulcer	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1826	epilepsy		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizure	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1346938	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:2452	thrombophilia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombophilia	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:3312	bipolar disorder		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:1552897	D	RGD:9068941	20220825	MouseDO			
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:423	myopathy		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:4428	dyslexia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	PMID:25741868|PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:4977	lymphedema		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphedema	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:630	genetic disease		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23349320|PMID:25741868|PMID:26467025|PMID:27864847|PMID:28216637|PMID:28492532|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:767	muscular atrophy		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:26467025|PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:2949	D	RGD:9068941	20241116	RGD			PMID:22206926|REF_RGD_ID:10047237
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:8398	osteoarthritis		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoarthritis	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:870	neuropathy		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9000053	Headache		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9000227	Hypogonadism and Testicular Atrophy		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Testicular atrophy	
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9000495	Tremor		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:28492532|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9000641	Pain		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9001224	Striae Distensae		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9001302	Myokymia 1		ISO	RGD:1346938	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYOKYMIA 1	
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9001581	Constipation		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9001653	Nocturia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nocturia	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9001745	Fasciculation		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fasciculations	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9003286	Diplopia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diplopia	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9003760	Myalgia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Venous thrombosis	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9003935	Myokymia		ISO	RGD:2949	D	RGD:9068941	20260604	RGD			PMID:22206926|REF_RGD_ID:10047237
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9004556	Melena		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melena	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9004751	Nausea		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nausea	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9004866	Ataxia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Incoordination	PMID:23349320|PMID:25741868|PMID:26467025|PMID:27864847|PMID:28216637|PMID:28492532|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:26467025|PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:28492532|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:28492532|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9006617	Fatigue		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:28492532|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9006743	Spasm		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9007001	Bradycardia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9007736	Vertigo		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:20301785|PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:28492532|PMID:29056246|PMID:30055040|PMID:37152446|PMID:8871592|PMID:9714564
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9008385	Vomiting		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9008520	Chronic Pain		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic pain	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematochezia	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9009225	Episodic Kinesigenic Dyskinesia		ISO	RGD:1346938	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia	PMID:25741868|PMID:28492532|PMID:34305802
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:913	atrophic muscular disease		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal lower limb amyotrophy	PMID:26467025|PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:936	brain disease		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile encephalopathy	
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9477	pulmonary embolism		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary embolism	PMID:28492532
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:963	episodic ataxia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary episodic ataxia	PMID:20301785|PMID:25741868|PMID:28492532|PMID:37152446|PMID:8871592|PMID:9714564
8736703	Kcna1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9970	obesity		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
8736710	Itgb1bp2	integrin subunit beta 1 binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8736710	Itgb1bp2	integrin subunit beta 1 binding protein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1558623	D	RGD:9068941	20200609	RGD			PMID:12496958|REF_RGD_ID:1582491
8736710	Itgb1bp2	integrin subunit beta 1 binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1350069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8736710	Itgb1bp2	integrin subunit beta 1 binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1350069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8736710	Itgb1bp2	integrin subunit beta 1 binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350069	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8736710	Itgb1bp2	integrin subunit beta 1 binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736710	Itgb1bp2	integrin subunit beta 1 binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8736748	Nrf1	nuclear respiratory factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8736748	Nrf1	nuclear respiratory factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1312137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8736748	Nrf1	nuclear respiratory factor 1	gene	DOID:12858	Huntington's disease		ISO	RGD:1312138	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:striatum	PMID:20529956|REF_RGD_ID:6771173
8736748	Nrf1	nuclear respiratory factor 1	gene	DOID:12858	Huntington's disease	onset	ISO	RGD:1312137	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs6949152, rs7781972 (human)	PMID:21595933|REF_RGD_ID:6770890
8736748	Nrf1	nuclear respiratory factor 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1312137	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:22975021
8736748	Nrf1	nuclear respiratory factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8736748	Nrf1	nuclear respiratory factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312137	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8736748	Nrf1	nuclear respiratory factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8736748	Nrf1	nuclear respiratory factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736748	Nrf1	nuclear respiratory factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8736748	Nrf1	nuclear respiratory factor 1	gene	DOID:9002669	Hypoxia	treatment	ISO	RGD:1304603	D	RGD:9068941	20230720	RGD		mRNA:decreased expression:left ventricle myocardium (rat)	PMID:33310031|REF_RGD_ID:329955450
8736748	Nrf1	nuclear respiratory factor 1	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:1304603	D	RGD:9068941	20230406	RGD		mRNA, protein:increase expression:cerebral cortex	PMID:18723421|REF_RGD_ID:2302400
8736748	Nrf1	nuclear respiratory factor 1	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:1304603	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hear right ventricle	PMID:17704287|REF_RGD_ID:2302404
8736748	Nrf1	nuclear respiratory factor 1	gene	DOID:9007170	Bowen's Disease		ISO	RGD:1312137	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21514422
8736748	Nrf1	nuclear respiratory factor 1	gene	DOID:9970	obesity	treatment	ISO	RGD:1304603	D	RGD:9068941	20230720	RGD		mRNA:decreased expression:left ventricle myocardium (rat)	PMID:33310031|REF_RGD_ID:329955450
8736772	Rbms2	RNA binding motif single stranded interacting protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8736772	Rbms2	RNA binding motif single stranded interacting protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8736772	Rbms2	RNA binding motif single stranded interacting protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8736772	Rbms2	RNA binding motif single stranded interacting protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1312477	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8736772	Rbms2	RNA binding motif single stranded interacting protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8736772	Rbms2	RNA binding motif single stranded interacting protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312477	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8736772	Rbms2	RNA binding motif single stranded interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736772	Rbms2	RNA binding motif single stranded interacting protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8736772	Rbms2	RNA binding motif single stranded interacting protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312477	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8736772	Rbms2	RNA binding motif single stranded interacting protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8736802	Dym	dymeclin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8736802	Dym	dymeclin	gene	DOID:0060247	Smith-McCort dysplasia		ISO	RGD:1350887	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	
8736802	Dym	dymeclin	gene	DOID:0060247	Smith-McCort dysplasia		ISO	RGD:1622292	D	RGD:9068941	20260604	MouseDO		OMIM:607326 | OMIM:615222	
8736802	Dym	dymeclin	gene	DOID:0081270	Smith-McCort dysplasia 1		ISO	RGD:1350887	D	RGD:7240710	20221123	OMIM			
8736802	Dym	dymeclin	gene	DOID:0081270	Smith-McCort dysplasia 1		ISO	RGD:1350887	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYM-related condition | ClinVar Annotator: match by term: SMITH-MCCORT DYSPLASIA 1 | ClinVar Annotator: match by term: SMITH-McCORT DYSPLASIA 1 | ClinVar Annotator: match by term: Smith-McCort dysplasia 1	PMID:12491225|PMID:12554689|PMID:18996921|PMID:25741868|PMID:28492532
8736802	Dym	dymeclin	gene	DOID:0111167	Dyggve-Melchior-Clausen disease		ISO	RGD:1350887	D	RGD:7240710	20180130	OMIM			
8736802	Dym	dymeclin	gene	DOID:0111167	Dyggve-Melchior-Clausen disease		ISO	RGD:1350887	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYGGVE-MELCHIOR-CLAUSEN DISEASE | ClinVar Annotator: match by term: Dyggve-Melchior-Clausen disease | ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome	PMID:12491225|PMID:12554689|PMID:16199547|PMID:16326827|PMID:18996921|PMID:25741868|PMID:28492532|PMID:29620724|PMID:38860472
8736802	Dym	dymeclin	gene	DOID:10283	prostate cancer		ISO	RGD:1350887	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8736802	Dym	dymeclin	gene	DOID:10283	prostate cancer		ISO	RGD:1350887	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8736802	Dym	dymeclin	gene	DOID:10534	stomach cancer		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8736802	Dym	dymeclin	gene	DOID:10908	hydrocephalus		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:12491225|PMID:12554689|PMID:16326827|PMID:18996921|PMID:25741868|PMID:28492532
8736802	Dym	dymeclin	gene	DOID:1324	lung cancer		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8736802	Dym	dymeclin	gene	DOID:1909	melanoma		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8736802	Dym	dymeclin	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868|PMID:28492532
8736802	Dym	dymeclin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8736802	Dym	dymeclin	gene	DOID:5419	schizophrenia		ISO	RGD:1350887	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8736802	Dym	dymeclin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736802	Dym	dymeclin	gene	DOID:630	genetic disease		ISO	RGD:1350887	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12491225|PMID:12554689|PMID:18996921|PMID:25741868|PMID:28492532
8736802	Dym	dymeclin	gene	DOID:65	connective tissue disease		ISO	RGD:1350887	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
8736802	Dym	dymeclin	gene	DOID:9003816	Macrocephaly		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:12491225|PMID:12554689|PMID:16326827|PMID:18996921|PMID:25741868|PMID:28492532
8736802	Dym	dymeclin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:12491225|PMID:12554689|PMID:16326827|PMID:18996921|PMID:25741868|PMID:28492532
8736802	Dym	dymeclin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8736802	Dym	dymeclin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12491225|PMID:12554689|PMID:16326827|PMID:18996921|PMID:25741868|PMID:28492532
8736802	Dym	dymeclin	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:12491225|PMID:12554689|PMID:16326827|PMID:18996921|PMID:25741868|PMID:28492532
8736802	Dym	dymeclin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8736827	Fmod	fibromodulin	gene	DOID:3087	gingivitis		ISO	RGD:1353289	D	RGD:9068941	20200609	RGD		protein:increased expression:gingiva	PMID:15196146|REF_RGD_ID:2315079
8736827	Fmod	fibromodulin	gene	DOID:5041	esophageal cancer		ISO	RGD:1353289	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8736827	Fmod	fibromodulin	gene	DOID:824	periodontitis		ISO	RGD:1353289	D	RGD:9068941	20200609	RGD		protein:increased expression:gingiva	PMID:15196146|REF_RGD_ID:2315079
8736827	Fmod	fibromodulin	gene	DOID:824	periodontitis		ISO	RGD:733886	D	RGD:9068941	20200609	RGD		protein:increased expression:gingiva	PMID:15196146|REF_RGD_ID:2315079
8736827	Fmod	fibromodulin	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1353289	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:Kidney Glomerulus	PMID:11259366|REF_RGD_ID:2311416
8736827	Fmod	fibromodulin	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:733886	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;mRNA:decreased expression:kidney cortex	PMID:16868749|REF_RGD_ID:2311412
8736827	Fmod	fibromodulin	gene	DOID:971	tendinitis		ISO	RGD:619769	D	RGD:9068941	20200609	RGD			PMID:19955224|REF_RGD_ID:2315073
8736837	Masp2	MBL associated serine protease 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1606320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
8736837	Masp2	MBL associated serine protease 2	gene	DOID:0050185	erythema multiforme		ISO	RGD:1606320	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12904520
8736837	Masp2	MBL associated serine protease 2	gene	DOID:0060058	lymphoma		ISO	RGD:1606320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8736837	Masp2	MBL associated serine protease 2	gene	DOID:1557	hypersensitivity reaction type III disease		ISO	RGD:1606320	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12904520
8736837	Masp2	MBL associated serine protease 2	gene	DOID:2237	hepatitis		ISO	RGD:1606320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatitis	
8736837	Masp2	MBL associated serine protease 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736837	Masp2	MBL associated serine protease 2	gene	DOID:8553	pyoderma gangrenosum		ISO	RGD:1606320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pyoderma gangrenosum	PMID:25741868
8736837	Masp2	MBL associated serine protease 2	gene	DOID:8577	ulcerative colitis		ISO	RGD:1606320	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12904520
8736837	Masp2	MBL associated serine protease 2	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1606320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25741868
8736837	Masp2	MBL associated serine protease 2	gene	DOID:9000727	Syncope		ISO	RGD:1606320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:25741868
8736837	Masp2	MBL associated serine protease 2	gene	DOID:9001981	Weight Loss		ISO	RGD:1606320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:25741868
8736837	Masp2	MBL associated serine protease 2	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:1606320	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12904520
8736837	Masp2	MBL associated serine protease 2	gene	DOID:9002347	MASP2 Deficiency		ISO	RGD:1606320	D	RGD:7240710	20180130	OMIM			
8736837	Masp2	MBL associated serine protease 2	gene	DOID:9002347	MASP2 Deficiency		ISO	RGD:1606320	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MASP2-related condition	PMID:12904520|PMID:15086395|PMID:17137870|PMID:19234189|PMID:19307021|PMID:19775369|PMID:24332888|PMID:24632598|PMID:24658431|PMID:25741868|PMID:28492532|PMID:31828694|PMID:32463623|PMID:35366317|PMID:37588055
8736837	Masp2	MBL associated serine protease 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1606320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	
8736837	Masp2	MBL associated serine protease 2	gene	DOID:9005372	Inflammation		ISO	RGD:1606320	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12904520
8736837	Masp2	MBL associated serine protease 2	gene	DOID:9007033	Ventricular Premature Complexes		ISO	RGD:1606320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ventricular contraction	PMID:25741868
8736863	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8736863	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:0080128	mitochondrial DNA depletion syndrome 9		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9	PMID:28492532
8736863	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:1115	sarcoma		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8736863	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:11830	myopia		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8736863	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1312779	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16823967
8736863	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:1596	depressive disorder		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
8736863	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:1826	epilepsy		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
8736863	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:1909	melanoma		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:17576681|PMID:28492532|PMID:9536098
8736863	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:2030	anxiety disorder		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8736863	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:289	endometriosis		ISO	RGD:1312779	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23284138
8736863	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1312779	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8736863	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736863	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
8736863	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
8736863	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1312779	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8736863	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:9008023	Memory Disorders		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
8736863	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8736863	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:9834	hyperopia		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
8736863	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:9970	obesity		ISO	RGD:1312779	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
8736888	Znf618	zinc finger protein 618	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8736888	Znf618	zinc finger protein 618	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8736888	Znf618	zinc finger protein 618	gene	DOID:1115	sarcoma		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8736888	Znf618	zinc finger protein 618	gene	DOID:3275	thymoma		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8736888	Znf618	zinc finger protein 618	gene	DOID:4362	cervical cancer		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8736888	Znf618	zinc finger protein 618	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8736888	Znf618	zinc finger protein 618	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736888	Znf618	zinc finger protein 618	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8736888	Znf618	zinc finger protein 618	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8736888	Znf618	zinc finger protein 618	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8736888	Znf618	zinc finger protein 618	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8736888	Znf618	zinc finger protein 618	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8736914	Diaph2	diaphanous related formin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8736914	Diaph2	diaphanous related formin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346222	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8736914	Diaph2	diaphanous related formin 2	gene	DOID:0080858	primary ovarian insufficiency 2A		ISO	RGD:1346222	D	RGD:7240710	20180130	OMIM			
8736914	Diaph2	diaphanous related formin 2	gene	DOID:0080858	primary ovarian insufficiency 2A		ISO	RGD:1346222	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: DIAPH2-related condition | ClinVar Annotator: match by term: Premature ovarian failure 2A | ClinVar Annotator: match by term: premature ovarian failure 2A	PMID:25741868|PMID:28492532
8736914	Diaph2	diaphanous related formin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1346222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8736914	Diaph2	diaphanous related formin 2	gene	DOID:1115	sarcoma		ISO	RGD:1346222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8736914	Diaph2	diaphanous related formin 2	gene	DOID:1909	melanoma		ISO	RGD:1346222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8736914	Diaph2	diaphanous related formin 2	gene	DOID:3275	thymoma		ISO	RGD:1346222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8736914	Diaph2	diaphanous related formin 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8736914	Diaph2	diaphanous related formin 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8736914	Diaph2	diaphanous related formin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1346222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8736914	Diaph2	diaphanous related formin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1346222	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8736914	Diaph2	diaphanous related formin 2	gene	DOID:5426	primary ovarian insufficiency	susceptibility	ISO	RGD:1346222	D	RGD:9068941	20200609	RGD		DNA:translocation:intron:t(X;12)(q21;p1.3)	PMID:9070928|REF_RGD_ID:1601071
8736914	Diaph2	diaphanous related formin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736914	Diaph2	diaphanous related formin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8736914	Diaph2	diaphanous related formin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8736946	Prokr1	prokineticin receptor 1	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:733659	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease	
8736946	Prokr1	prokineticin receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:733659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8736946	Prokr1	prokineticin receptor 1	gene	DOID:2843	long QT syndrome		ISO	RGD:733659	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8736946	Prokr1	prokineticin receptor 1	gene	DOID:9000641	Pain		ISO	RGD:733659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16793879
8736946	Prokr1	prokineticin receptor 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:733659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16793879
8736953	Hyal4	hyaluronidase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8736953	Hyal4	hyaluronidase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8736958	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8736958	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8736958	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8736958	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8736958	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8736958	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8736958	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:1909	melanoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8736958	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8736958	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:3070	high grade glioma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8736958	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:3275	thymoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8736958	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8736958	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8736958	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:2311267	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8736958	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8736958	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736958	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8736958	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8736958	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8736958	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8736958	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8736958	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:9256	colorectal cancer		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8736981	Gata2	GATA binding protein 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:21892162|PMID:22649106|PMID:22814295|PMID:25241285|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26660446|PMID:27276561|PMID:28492532|PMID:28654364|PMID:30190467
8736981	Gata2	GATA binding protein 2	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:734291	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia	PMID:20040766|PMID:21670465|PMID:21765025|PMID:21810969|PMID:23223431|PMID:23502222|PMID:24077845|PMID:24227816|PMID:24345756|PMID:24578498|PMID:24782121|PMID:25239263|PMID:25359990|PMID:25741868|PMID:26264606|PMID:26492932|PMID:26702063|PMID:28104920|PMID:28492532|PMID:28825694|PMID:29724903|PMID:29882021|PMID:30578959|PMID:31106410|PMID:31256854|PMID:33370941|PMID:33417088|PMID:34529785|PMID:8701948
8736981	Gata2	GATA binding protein 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:734291	D	RGD:7240710	20260729	OMIM			
8736981	Gata2	GATA binding protein 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:734291	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndromes | ClinVar Annotator: match by term: myelodysplasia	PMID:16199547|PMID:20040766|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21816832|PMID:21892158|PMID:21892162|PMID:22147895|PMID:22649106|PMID:22814295|PMID:22996659|PMID:23223431|PMID:23365458|PMID:23502222|PMID:24033149|PMID:24077845|PMID:24227816|PMID:24345756|PMID:24514424|PMID:25239263|PMID:25241285|PMID:25359990|PMID:25619630|PMID:25676417|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26264606|PMID:26492932|PMID:26660446|PMID:26702063|PMID:26710799|PMID:26716079|PMID:26748574|PMID:26767875|PMID:27069254|PMID:27266944|PMID:27276561|PMID:27416790|PMID:27577878|PMID:28104920|PMID:28209719|PMID:28234738|PMID:28259234|PMID:28440875|PMID:28492532|PMID:28642594|PMID:28654364|PMID:29146883|PMID:29724903|PMID:29882021|PMID:29947977|PMID:30101490|PMID:30190467|PMID:30280306|PMID:30564229|PMID:30578959|PMID:30894283|PMID:31106410|PMID:31246134|PMID:31256854|PMID:31309983|PMID:31340620|PMID:31710708|PMID:31753093|PMID:32088370|PMID:32098966|PMID:32555368|PMID:32865708|PMID:33363905|PMID:33417088|PMID:33510405|PMID:33560389|PMID:33759087|PMID:34051752|PMID:34529785|PMID:34576178|PMID:34670919|PMID:35753512|PMID:38730328|PMID:453969|PMID:8701948
8736981	Gata2	GATA binding protein 2	gene	DOID:0050908	myelodysplastic syndrome	severity	ISO	RGD:734291	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow:	PMID:12145700|REF_RGD_ID:10450753
8736981	Gata2	GATA binding protein 2	gene	DOID:0080188	chronic myelomonocytic leukemia		ISO	RGD:734291	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Chronic myelomonocytic leukemia	PMID:20040766|PMID:21670465|PMID:21765025|PMID:21810969|PMID:23365458|PMID:23502222|PMID:24077845|PMID:24227816|PMID:24345756|PMID:25359990|PMID:25741868|PMID:26264606|PMID:26492932|PMID:26702063|PMID:28104920|PMID:28492532|PMID:29724903|PMID:29882021|PMID:30578959|PMID:31106410|PMID:31256854|PMID:33417088|PMID:34529785|PMID:8701948
8736981	Gata2	GATA binding protein 2	gene	DOID:0111947	immunodeficiency 21		ISO	RGD:734291	D	RGD:7240710	20260729	OMIM			
8736981	Gata2	GATA binding protein 2	gene	DOID:0111947	immunodeficiency 21		ISO	RGD:734291	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency | ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: IMMUNODEFICIENCY 21 | ClinVar Annotator: match by term: MONOCYTOPENIA AND MYCOBACTERIAL INFECTION SYNDROME | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections	PMID:16199547|PMID:17576681|PMID:18250304|PMID:20040766|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892162|PMID:22147895|PMID:22430350|PMID:22533337|PMID:22649106|PMID:22814295|PMID:22996659|PMID:23223431|PMID:23365458|PMID:23443460|PMID:23502222|PMID:23560626|PMID:23563236|PMID:24033149|PMID:24077845|PMID:24227816|PMID:24345756|PMID:24754962|PMID:25239263|PMID:25241285|PMID:25326637|PMID:25359990|PMID:25619630|PMID:25624456|PMID:25676417|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26264606|PMID:26492932|PMID:26580448|PMID:26660446|PMID:26702063|PMID:26710799|PMID:26748574|PMID:27069254|PMID:27266944|PMID:27276561|PMID:27389056|PMID:27577878|PMID:27876779|PMID:27924436|PMID:28104920|PMID:28126493|PMID:28202063|PMID:28259234|PMID:28440875|PMID:28485484|PMID:28492532|PMID:28518168|PMID:28654364|PMID:29077208|PMID:29146883|PMID:29724903|PMID:29882021|PMID:29906362|PMID:30101490|PMID:30190467|PMID:30578959|PMID:30894283|PMID:31106410|PMID:31256854|PMID:31309983|PMID:31340620|PMID:31732620|PMID:31753093|PMID:31911633|PMID:32088370|PMID:32098966|PMID:32208489|PMID:32461654|PMID:32555368|PMID:32960960|PMID:33363905|PMID:33417088|PMID:33560389|PMID:34051752|PMID:34387894|PMID:34529785|PMID:34619682|PMID:34670919|PMID:34893945|PMID:35181392|PMID:35753512|PMID:35980532|PMID:36357187|PMID:37216690|PMID:37586297|PMID:37837580|PMID:38730328|PMID:8701948|PMID:9536098
8736981	Gata2	GATA binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8736981	Gata2	GATA binding protein 2	gene	DOID:10591	pre-eclampsia	onset	ISO	RGD:734291	D	RGD:9068941	20231019	RGD			PMID:30659233|REF_RGD_ID:401850546
8736981	Gata2	GATA binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
8736981	Gata2	GATA binding protein 2	gene	DOID:11830	myopia		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:21892162|PMID:22649106|PMID:22814295|PMID:25241285|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26660446|PMID:27276561|PMID:28492532|PMID:28654364|PMID:30190467
8736981	Gata2	GATA binding protein 2	gene	DOID:1222	cartilage disease		ISO	RGD:734291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20707411
8736981	Gata2	GATA binding protein 2	gene	DOID:12449	aplastic anemia		ISO	RGD:734291	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:CD34+ cell	PMID:11328281|REF_RGD_ID:11049519
8736981	Gata2	GATA binding protein 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:27389056|PMID:35101336
8736981	Gata2	GATA binding protein 2	gene	DOID:1596	depressive disorder		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:21892162|PMID:22649106|PMID:22814295|PMID:25241285|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26660446|PMID:27276561|PMID:28492532|PMID:28654364|PMID:30190467
8736981	Gata2	GATA binding protein 2	gene	DOID:2349	arteriosclerosis		ISO	RGD:734291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28569748
8736981	Gata2	GATA binding protein 2	gene	DOID:2355	anemia		ISO	RGD:69110	D	RGD:9068941	20260521	RGD			PMID:22996665|REF_RGD_ID:11049511
8736981	Gata2	GATA binding protein 2	gene	DOID:2841	asthma		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
8736981	Gata2	GATA binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma	disease_progression	ISO	RGD:734291	D	RGD:9068941	20210716	RGD			PMID:25230694|REF_RGD_ID:149735195
8736981	Gata2	GATA binding protein 2	gene	DOID:4481	allergic rhinitis		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	PMID:25741868|PMID:28492532
8736981	Gata2	GATA binding protein 2	gene	DOID:4977	lymphedema		ISO	RGD:734291	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphedema	PMID:20040766|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892158|PMID:22430350|PMID:22533337|PMID:23223431|PMID:23502222|PMID:24077845|PMID:24167460|PMID:24227816|PMID:24345756|PMID:25239263|PMID:25326637|PMID:25359990|PMID:25624456|PMID:25741868|PMID:25955867|PMID:26022708|PMID:26264606|PMID:26492932|PMID:26702063|PMID:26710799|PMID:26748574|PMID:27266944|PMID:27577878|PMID:27680514|PMID:27799394|PMID:27876779|PMID:28104920|PMID:28126493|PMID:28271814|PMID:28373026|PMID:28440875|PMID:28492532|PMID:28747912|PMID:29146883|PMID:29724903|PMID:29882021|PMID:30101490|PMID:30578959|PMID:30894283|PMID:31106410|PMID:31256854|PMID:31309983|PMID:31753093|PMID:32088370|PMID:32098966|PMID:33363905|PMID:33417088|PMID:33715335|PMID:34051752|PMID:34387894|PMID:34529785|PMID:34670919|PMID:34893945|PMID:35753512|PMID:38730328|PMID:8701948
8736981	Gata2	GATA binding protein 2	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia	PMID:25741868|PMID:29724903|PMID:30802360|PMID:34469508
8736981	Gata2	GATA binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736981	Gata2	GATA binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:20040766|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892162|PMID:22649106|PMID:22814295|PMID:23223431|PMID:23502222|PMID:23560626|PMID:24033149|PMID:24077845|PMID:24227816|PMID:24345756|PMID:24728327|PMID:25241285|PMID:25359990|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26264606|PMID:26492932|PMID:26580448|PMID:26660446|PMID:26702063|PMID:27069254|PMID:27276561|PMID:28104920|PMID:28202063|PMID:28492532|PMID:28518168|PMID:28654364|PMID:29724903|PMID:29882021|PMID:29906362|PMID:30190467|PMID:30578959|PMID:30802360|PMID:31106410|PMID:31256854|PMID:31309983|PMID:31911633|PMID:32461654|PMID:32555368|PMID:32960960|PMID:33417088|PMID:34469508|PMID:34529785|PMID:34619682|PMID:37216690|PMID:37586297|PMID:37837580|PMID:8701948
8736981	Gata2	GATA binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:734291	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:20040766|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892162|PMID:22649106|PMID:22814295|PMID:23223431|PMID:23502222|PMID:23560626|PMID:24033149|PMID:24077845|PMID:24227816|PMID:24345756|PMID:25241285|PMID:25359990|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26264606|PMID:26492932|PMID:26580448|PMID:26660446|PMID:26702063|PMID:27069254|PMID:27276561|PMID:28104920|PMID:28202063|PMID:28492532|PMID:28518168|PMID:28654364|PMID:29724903|PMID:29882021|PMID:29906362|PMID:30190467|PMID:30578959|PMID:30802360|PMID:31106410|PMID:31256854|PMID:31309983|PMID:31911633|PMID:32208489|PMID:32461654|PMID:32555368|PMID:32960960|PMID:33417088|PMID:34469508|PMID:34529785|PMID:34619682|PMID:37216690|PMID:37586297|PMID:37837580|PMID:8701948
8736981	Gata2	GATA binding protein 2	gene	DOID:6364	migraine		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine with or without aura, susceptibility to, 1	PMID:21670465|PMID:24077845|PMID:25326637|PMID:25741868|PMID:26702063|PMID:28492532|PMID:32088370
8736981	Gata2	GATA binding protein 2	gene	DOID:7166	thyroiditis		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroiditis	PMID:25741868|PMID:28492532
8736981	Gata2	GATA binding protein 2	gene	DOID:848	arthritis		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthritis	PMID:25741868
8736981	Gata2	GATA binding protein 2	gene	DOID:865	vasculitis		ISO	RGD:734291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28569748
8736981	Gata2	GATA binding protein 2	gene	DOID:8692	myeloid leukemia	disease_progression	ISO	RGD:734291	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.L359V	PMID:19304323|REF_RGD_ID:11049517
8736981	Gata2	GATA binding protein 2	gene	DOID:9000351	Diarrhea 9		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25741868|PMID:28492532
8736981	Gata2	GATA binding protein 2	gene	DOID:9002514	Neointima		ISO	RGD:734291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28569748
8736981	Gata2	GATA binding protein 2	gene	DOID:9002682	Cardiovascular Abnormalities		ISO	RGD:734291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20707411
8736981	Gata2	GATA binding protein 2	gene	DOID:9002720	Splenomegaly		ISO	RGD:734291	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868|PMID:28492532
8736981	Gata2	GATA binding protein 2	gene	DOID:9003814	Neurologic Manifestations		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurologic symptoms	PMID:23502222|PMID:24077845|PMID:24266605|PMID:25239263|PMID:25359990|PMID:25741868|PMID:25879889|PMID:26702063|PMID:26812071|PMID:27418648|PMID:28492532|PMID:28602958|PMID:29146883|PMID:29724903|PMID:30232126|PMID:30538114|PMID:30578959|PMID:32135276
8736981	Gata2	GATA binding protein 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing loss	PMID:21892158|PMID:24345756|PMID:25741868
8736981	Gata2	GATA binding protein 2	gene	DOID:9004771	Vascular Remodeling		ISO	RGD:734291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28569748
8736981	Gata2	GATA binding protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
8736981	Gata2	GATA binding protein 2	gene	DOID:9005724	Fungal Lung Diseases		ISO	RGD:2664	D	RGD:9068941	20200609	RGD		associated with Pneumocystis Infections	PMID:16774119|REF_RGD_ID:9587813
8736981	Gata2	GATA binding protein 2	gene	DOID:9006709	Primary Graft Dysfunction		ISO	RGD:734291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28569748
8736981	Gata2	GATA binding protein 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734291	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:21670465|PMID:22533337|PMID:24754962|PMID:25741868|PMID:26445707|PMID:28492532|PMID:28873162|PMID:29365323|PMID:29797310|PMID:33715335
8736981	Gata2	GATA binding protein 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734291	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:21670465|PMID:21892162|PMID:22533337|PMID:22649106|PMID:22814295|PMID:24754962|PMID:25241285|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26445707|PMID:26660446|PMID:27069254|PMID:27276561|PMID:28492532|PMID:28654364|PMID:28873162|PMID:29365323|PMID:29797310|PMID:31911633|PMID:32555368|PMID:33715335|PMID:34619682
8736981	Gata2	GATA binding protein 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734291	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:21670465|PMID:21892162|PMID:22533337|PMID:22649106|PMID:22814295|PMID:24754962|PMID:25241285|PMID:25359990|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26445707|PMID:26660446|PMID:27069254|PMID:27276561|PMID:28492532|PMID:28654364|PMID:28873162|PMID:29365323|PMID:29797310|PMID:31911633|PMID:32555368|PMID:32960960|PMID:33715335|PMID:34619682
8736981	Gata2	GATA binding protein 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:21892162|PMID:22649106|PMID:22814295|PMID:25241285|PMID:25359990|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26660446|PMID:27069254|PMID:27276561|PMID:28492532|PMID:28518168|PMID:28654364|PMID:30190467|PMID:31911633|PMID:32461654|PMID:32960960|PMID:34619682
8736981	Gata2	GATA binding protein 2	gene	DOID:9008217	Hemorrhage		ISO	RGD:69110	D	RGD:9068941	20200609	RGD			PMID:22996665|REF_RGD_ID:11049511
8736981	Gata2	GATA binding protein 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:734291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20707411
8736981	Gata2	GATA binding protein 2	gene	DOID:9008754	Primary Lymphedema with Myelodysplasia		ISO	RGD:734291	D	RGD:7240710	20260729	OMIM			
8736981	Gata2	GATA binding protein 2	gene	DOID:9008754	Primary Lymphedema with Myelodysplasia		ISO	RGD:734291	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia	PMID:20040766|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892158|PMID:21892162|PMID:22430350|PMID:22533337|PMID:22649106|PMID:22814295|PMID:23223431|PMID:23365458|PMID:23502222|PMID:23560626|PMID:24077845|PMID:24227816|PMID:24345756|PMID:25239263|PMID:25241285|PMID:25326637|PMID:25359990|PMID:25624456|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26264606|PMID:26492932|PMID:26660446|PMID:26702063|PMID:26710799|PMID:26748574|PMID:27069254|PMID:27266944|PMID:27276561|PMID:27416790|PMID:27894982|PMID:28104920|PMID:28440875|PMID:28492532|PMID:28654364|PMID:28747912|PMID:29146883|PMID:29724903|PMID:29882021|PMID:30101490|PMID:30190467|PMID:30578959|PMID:30894283|PMID:31106410|PMID:31256854|PMID:31309983|PMID:31753093|PMID:32088370|PMID:32098966|PMID:32208489|PMID:33363905|PMID:33417088|PMID:33560389|PMID:33684095|PMID:34051752|PMID:34529785|PMID:34670919|PMID:35753512|PMID:38730328|PMID:8701948
8736981	Gata2	GATA binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734291	D	RGD:7240710	20260729	OMIM			
8736981	Gata2	GATA binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734291	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to	PMID:20040766|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892158|PMID:21892162|PMID:22147895|PMID:22271902|PMID:22533337|PMID:23223431|PMID:23365458|PMID:23502222|PMID:24033149|PMID:24077845|PMID:24227816|PMID:24266605|PMID:24345756|PMID:25239263|PMID:25359990|PMID:25676417|PMID:25741868|PMID:25879889|PMID:26264606|PMID:26492932|PMID:26702063|PMID:26748574|PMID:26812071|PMID:27266944|PMID:27288520|PMID:27418648|PMID:27577878|PMID:28104920|PMID:28440875|PMID:28492532|PMID:28747912|PMID:28947108|PMID:29146883|PMID:29365323|PMID:29588856|PMID:29724903|PMID:29882021|PMID:29906362|PMID:30578959|PMID:30894283|PMID:31035956|PMID:31106410|PMID:31256854|PMID:31340620|PMID:31350183|PMID:32098966|PMID:32135276|PMID:33363905|PMID:33417088|PMID:33510405|PMID:4508672|PMID:8701948
8736981	Gata2	GATA binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734291	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to	PMID:20040766|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892158|PMID:21892162|PMID:22147895|PMID:22271902|PMID:22533337|PMID:23223431|PMID:23365458|PMID:23502222|PMID:24033149|PMID:24077845|PMID:24227816|PMID:24266605|PMID:24345756|PMID:25239263|PMID:25359990|PMID:25676417|PMID:25741868|PMID:25879889|PMID:26264606|PMID:26492932|PMID:26702063|PMID:26748574|PMID:26812071|PMID:27266944|PMID:27288520|PMID:27418648|PMID:27577878|PMID:28104920|PMID:28440875|PMID:28492532|PMID:28747912|PMID:28947108|PMID:29146883|PMID:29365323|PMID:29588856|PMID:29724903|PMID:29882021|PMID:29906362|PMID:30101490|PMID:30578959|PMID:30894283|PMID:31035956|PMID:31106410|PMID:31256854|PMID:31340620|PMID:31350183|PMID:31753093|PMID:32098966|PMID:32135276|PMID:33363905|PMID:33417088|PMID:33510405|PMID:34529785|PMID:34670919|PMID:35753512|PMID:4508672|PMID:8701948
8736981	Gata2	GATA binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute Myeloid Leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to	PMID:16199547|PMID:17576681|PMID:20040766|PMID:20803646|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21816832|PMID:21892158|PMID:21892162|PMID:21956389|PMID:22147895|PMID:22533337|PMID:22649106|PMID:22814295|PMID:23223431|PMID:23365458|PMID:23443460|PMID:23502222|PMID:23563236|PMID:24033149|PMID:24077845|PMID:24227816|PMID:24345756|PMID:24359037|PMID:24728327|PMID:24754962|PMID:25241285|PMID:25359990|PMID:25676417|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26214525|PMID:26264606|PMID:26492932|PMID:26660446|PMID:26702063|PMID:26710799|PMID:27069254|PMID:27276561|PMID:28066994|PMID:28104920|PMID:28202063|PMID:28234738|PMID:28492532|PMID:28518168|PMID:28642594|PMID:28654364|PMID:29146883|PMID:29146900|PMID:29178327|PMID:29189513|PMID:29279357|PMID:29365323|PMID:29680795|PMID:29724903|PMID:29882021|PMID:29906362|PMID:30030275|PMID:30190467|PMID:30280306|PMID:30578959|PMID:31106410|PMID:31203817|PMID:31245276|PMID:31256854|PMID:31309983|PMID:31340620|PMID:31785092|PMID:31911633|PMID:32054657|PMID:32088370|PMID:32461654|PMID:32488879|PMID:32555368|PMID:32682923|PMID:32865708|PMID:32888943|PMID:32960960|PMID:33417088|PMID:33510405|PMID:33560389|PMID:33759087|PMID:33957466|PMID:34051752|PMID:34387894|PMID:34469508|PMID:34529785|PMID:34619682|PMID:37216690|PMID:37837580|PMID:38730328|PMID:38993648|PMID:8701948|PMID:9536098
8736981	Gata2	GATA binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734291	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acute Myeloid Leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to	PMID:16199547|PMID:17576681|PMID:20040766|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21816832|PMID:21892158|PMID:21892162|PMID:21956389|PMID:22147895|PMID:22533337|PMID:22649106|PMID:22814295|PMID:23223431|PMID:23365458|PMID:23443460|PMID:23502222|PMID:23563236|PMID:24033149|PMID:24077845|PMID:24227816|PMID:24345756|PMID:24359037|PMID:24754962|PMID:25241285|PMID:25359990|PMID:25676417|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26214525|PMID:26264606|PMID:26492932|PMID:26660446|PMID:26702063|PMID:26710799|PMID:27069254|PMID:27276561|PMID:28066994|PMID:28104920|PMID:28202063|PMID:28234738|PMID:28492532|PMID:28518168|PMID:28642594|PMID:28654364|PMID:29146883|PMID:29146900|PMID:29178327|PMID:29189513|PMID:29279357|PMID:29365323|PMID:29680795|PMID:29724903|PMID:29882021|PMID:29906362|PMID:30030275|PMID:30190467|PMID:30280306|PMID:30578959|PMID:31106410|PMID:31203817|PMID:31245276|PMID:31256854|PMID:31309983|PMID:31340620|PMID:31785092|PMID:31911633|PMID:32054657|PMID:32088370|PMID:32461654|PMID:32488879|PMID:32555368|PMID:32682923|PMID:32865708|PMID:32888943|PMID:32960960|PMID:33417088|PMID:33510405|PMID:33560389|PMID:33759087|PMID:33957466|PMID:34051752|PMID:34387894|PMID:34469508|PMID:34529785|PMID:34619682|PMID:37216690|PMID:37837580|PMID:38730328|PMID:38993648|PMID:8701948|PMID:9536098
8736981	Gata2	GATA binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734291	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute Myeloid Leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to | ClinVar Annotator: match by term: RUNX1-related disorder	PMID:16199547|PMID:17576681|PMID:20040766|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21816832|PMID:21892158|PMID:21892162|PMID:21956389|PMID:22147895|PMID:22533337|PMID:22649106|PMID:22814295|PMID:23223431|PMID:23365458|PMID:23443460|PMID:23502222|PMID:23563236|PMID:24033149|PMID:24077845|PMID:24227816|PMID:24345756|PMID:24359037|PMID:24754962|PMID:25239263|PMID:25241285|PMID:25359990|PMID:25676417|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26214525|PMID:26264606|PMID:26492932|PMID:26660446|PMID:26702063|PMID:26710799|PMID:26748574|PMID:27069254|PMID:27266944|PMID:27276561|PMID:28066994|PMID:28104920|PMID:28202063|PMID:28234738|PMID:28440875|PMID:28492532|PMID:28518168|PMID:28642594|PMID:28654364|PMID:29146883|PMID:29146900|PMID:29178327|PMID:29189513|PMID:29279357|PMID:29365323|PMID:29680795|PMID:29724903|PMID:29882021|PMID:29906362|PMID:30030275|PMID:30101490|PMID:30190467|PMID:30280306|PMID:30578959|PMID:30894283|PMID:31106410|PMID:31203817|PMID:31245276|PMID:31256854|PMID:31309983|PMID:31340620|PMID:31753093|PMID:31785092|PMID:31911633|PMID:32054657|PMID:32088370|PMID:32098966|PMID:32461654|PMID:32488879|PMID:32555368|PMID:32682923|PMID:32865708|PMID:32888943|PMID:32960960|PMID:33363905|PMID:33417088|PMID:33510405|PMID:33560389|PMID:33759087|PMID:33957466|PMID:34051752|PMID:34387894|PMID:34469508|PMID:34529785|PMID:34619682|PMID:34670919|PMID:35753512|PMID:37216690|PMID:37837580|PMID:38730328|PMID:38993648|PMID:8701948|PMID:9536098
8736981	Gata2	GATA binding protein 2	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:734291	D	RGD:9068941	20200609	RGD			PMID:22786876|PMID:25241285|REF_RGD_ID:11049510|REF_RGD_ID:11049515
8736996	Eif2s2	eukaryotic translation initiation factor 2 subunit beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8736996	Eif2s2	eukaryotic translation initiation factor 2 subunit beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8736996	Eif2s2	eukaryotic translation initiation factor 2 subunit beta	gene	DOID:1324	lung cancer		ISO	RGD:1343864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8736996	Eif2s2	eukaryotic translation initiation factor 2 subunit beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1343864	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8736996	Eif2s2	eukaryotic translation initiation factor 2 subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8736996	Eif2s2	eukaryotic translation initiation factor 2 subunit beta	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1550333	D	RGD:9068941	20200609	RGD			PMID:19168544|REF_RGD_ID:10755431
8736996	Eif2s2	eukaryotic translation initiation factor 2 subunit beta	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1343864	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151356
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:0050127	sinusitis		ISO	RGD:737124	D	RGD:9068941	20200609	RGD		protein: increased expression: nasal cavity epithelium	PMID:21255638|REF_RGD_ID:6483060
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:737124	D	RGD:9068941	20200609	RGD			PMID:11780721|REF_RGD_ID:6482691
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:0060230	basal ganglia calcification		ISO	RGD:737124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Basal ganglia calcification	PMID:25741868
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:0080600	COVID-19	severity	ISO	RGD:737124	D	RGD:9068941	20200619	RGD		protein:increased expression:plasma (human)	PMID:31986264|REF_RGD_ID:30309212
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:737124	D	RGD:9068941	20200609	RGD			PMID:21211989|REF_RGD_ID:6482796
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:10286	prostate carcinoma		ISO	RGD:11068	D	RGD:9068941	20200609	RGD			PMID:23297038|REF_RGD_ID:13506769
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737124	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:22279551|REF_RGD_ID:10449445
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:10763	hypertension		ISO	RGD:3283	D	RGD:9068941	20200609	RGD			PMID:8869081|REF_RGD_ID:10449484
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:10873	Kuhnt-Junius degeneration		ISO	RGD:737124	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:24334449|REF_RGD_ID:10449444
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:11132	prostatic hypertrophy		ISO	RGD:737124	D	RGD:9068941	20200609	RGD			PMID:22689130|REF_RGD_ID:13506770
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:12215	oligohydramnios		ISO	RGD:3283	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:17519529|REF_RGD_ID:2292203
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:127	leiomyoma		ISO	RGD:737124	D	RGD:9068941	20200609	RGD		protein:increased expression:myometrium	PMID:16294022|REF_RGD_ID:2292153
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:13207	proliferative diabetic retinopathy		ISO	RGD:737124	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous:	PMID:19799585|REF_RGD_ID:10449447
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:13208	background diabetic retinopathy		ISO	RGD:737124	D	RGD:9068941	20200609	RGD		protein:decreased expression:vitreous:	PMID:19799585|REF_RGD_ID:10449447
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:13580	cholestasis		ISO	RGD:3283	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:cholangiocyte, bible duct:	PMID:10424289|REF_RGD_ID:10449495
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:1596	depressive disorder		ISO	RGD:737124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:1612	breast cancer		ISO	RGD:737124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:182	calcinosis		ISO	RGD:737124	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25938945
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:1909	melanoma		ISO	RGD:737124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:2030	anxiety disorder		ISO	RGD:737124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:2224	essential thrombocythemia		ISO	RGD:737124	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15682418
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:2696	Leydig cell tumor		ISO	RGD:737124	D	RGD:9068941	20200609	RGD		protein:increased expression:testis, leydig cell	PMID:11994382|REF_RGD_ID:2298579
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:2841	asthma		ISO	RGD:11068	D	RGD:9068941	20200609	RGD		protein: increased expression	PMID:21216974|REF_RGD_ID:6483071
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:2841	asthma		ISO	RGD:3283	D	RGD:9068941	20200609	RGD			PMID:21216974|REF_RGD_ID:6483071
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:289	endometriosis		ISO	RGD:737124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Endometriosis	PMID:25741868
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:2921	glomerulonephritis	treatment	ISO	RGD:3283	D	RGD:9068941	20200609	RGD			PMID:11316849|REF_RGD_ID:10449490
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:3068	glioblastoma		ISO	RGD:737124	D	RGD:9068941	20200609	RGD			PMID:21210235|REF_RGD_ID:6482799
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:3070	high grade glioma		ISO	RGD:737124	D	RGD:9068941	20200609	RGD			PMID:21677873|REF_RGD_ID:13702897
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:3070	high grade glioma	severity	ISO	RGD:737124	D	RGD:9068941	20200609	RGD			PMID:26945107|PMID:27448842|REF_RGD_ID:13702895|REF_RGD_ID:13702896
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:3275	thymoma		ISO	RGD:737124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:3507	dermatofibrosarcoma protuberans		ISO	RGD:737124	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans	PMID:25741868|PMID:28492532
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:3565	meningioma		ISO	RGD:737124	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MENINGIOMA	
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:3594	choriocarcinoma		ISO	RGD:737124	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mononuclear cytotrophoblast cell	PMID:8504434|REF_RGD_ID:2292200
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:11068	D	RGD:9068941	20200609	RGD			PMID:21868503|PMID:22523431|REF_RGD_ID:6482756|REF_RGD_ID:6482831
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:737124	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15286697
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:4467	clear cell renal cell carcinoma	disease_progression	ISO	RGD:737124	D	RGD:9068941	20200609	RGD			PMID:23879920|PMID:25766258|REF_RGD_ID:13504817|REF_RGD_ID:13506650
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:4586	familial meningioma		ISO	RGD:737124	D	RGD:7240710	20230505	OMIM			
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:4586	familial meningioma		ISO	RGD:737124	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to	PMID:25741868|PMID:28492532
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:4989	pancreatitis		ISO	RGD:737124	D	RGD:9068941	20200609	RGD		protein: increased expression: serum	PMID:21750433|REF_RGD_ID:6483007
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:5082	liver cirrhosis		ISO	RGD:3283	D	RGD:9068941	20200609	RGD			PMID:22407906|REF_RGD_ID:6482858
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:5082	liver cirrhosis		ISO	RGD:3283	D	RGD:9068941	20200609	RGD		mRNA: increased expression	PMID:22539040|REF_RGD_ID:6482830
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:5199	ureteral obstruction		ISO	RGD:3283	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney:	PMID:10644908|REF_RGD_ID:10449497
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:5679	retinal disease		ISO	RGD:737124	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11840346
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:630	genetic disease		ISO	RGD:737124	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:6432	pulmonary hypertension		ISO	RGD:11068	D	RGD:9068941	20200609	RGD			PMID:22523431|REF_RGD_ID:6482831
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:6432	pulmonary hypertension		ISO	RGD:3283	D	RGD:9068941	20200609	RGD			PMID:21819559|PMID:8447423|REF_RGD_ID:1580847|REF_RGD_ID:6482859
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:6432	pulmonary hypertension		ISO	RGD:737124	D	RGD:9068941	20200609	RGD			PMID:21819559|REF_RGD_ID:6482859
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:679	basal ganglia disease		ISO	RGD:737124	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25938945
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737124	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20506153
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:737124	D	RGD:9068941	20200609	RGD			PMID:1708827|REF_RGD_ID:6482653
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:11068	D	RGD:9068941	20200609	RGD			PMID:21568693|REF_RGD_ID:6482306
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:737124	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;mRNA:increased expression:lymph node	PMID:17674348|REF_RGD_ID:2292173
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9000713	Surgical Wound		ISO	RGD:3283	D	RGD:9068941	20240620	RGD			PMID:10947943|REF_RGD_ID:405866183
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9000784	Fibrosis		ISO	RGD:11068	D	RGD:9068941	20200609	RGD			PMID:17195235|REF_RGD_ID:6482660
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9000784	Fibrosis		ISO	RGD:737124	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22004089
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9000784	Fibrosis		ISO	RGD:737124	D	RGD:9068941	20200609	RGD			PMID:11780721|PMID:8644858|REF_RGD_ID:6482673|REF_RGD_ID:6482691
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:737124	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;mRNA, protein:increased expression:breast	PMID:16596190|REF_RGD_ID:2292179
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9000998	Brain Injuries		ISO	RGD:3283	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebral cortex, hippocampus	PMID:9645955|REF_RGD_ID:11084932
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9001036	Penetrating Head Injuries		ISO	RGD:3283	D	RGD:9068941	20200609	RGD		protein:increased expression:neuron:	PMID:7526956|REF_RGD_ID:10449485
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9001547	Tibial Fractures	treatment	ISO	RGD:737124	D	RGD:9068941	20200609	RGD		associated with Osteoporosis;	PMID:17676626|REF_RGD_ID:10449446
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:3283	D	RGD:9068941	20200609	RGD		protein:increased expression:skin	PMID:12533868|REF_RGD_ID:2292211
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9001600	Wounds and Injuries	treatment	ISO	RGD:737124	D	RGD:9068941	20200609	RGD			PMID:3280728|REF_RGD_ID:10449501
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9002055	Chronic Allograft Nephropathy		ISO	RGD:3283	D	RGD:9068941	20200609	RGD			PMID:11889420|REF_RGD_ID:11080974
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9002055	Chronic Allograft Nephropathy		ISO	RGD:3283	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney:	PMID:15785371|REF_RGD_ID:10449491
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:737124	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin Dependent	PMID:15067514|REF_RGD_ID:2311646
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:737124	D	RGD:9068941	20200609	RGD		mRNA:increased expression:placenta	PMID:11005132|REF_RGD_ID:2311066
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9002514	Neointima		ISO	RGD:3283	D	RGD:9068941	20200609	RGD			PMID:8585266|REF_RGD_ID:10449489
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9002699	Periapical Diseases		ISO	RGD:3283	D	RGD:9068941	20200609	RGD			PMID:17509411|REF_RGD_ID:10449488
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:3283	D	RGD:9068941	20200609	RGD			PMID:16042218|REF_RGD_ID:11080975
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:3283	D	RGD:9068941	20200609	RGD			PMID:10215166|REF_RGD_ID:10449494
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9004086	AIDS Dementia Complex		ISO	RGD:737124	D	RGD:9068941	20200609	RGD			PMID:21368226|REF_RGD_ID:6482787
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9004147	Anosmia		ISO	RGD:737124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anosmia	PMID:25741868
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9004237	Hyperoxic Lung Injury		ISO	RGD:3283	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung:	PMID:2696512|REF_RGD_ID:10449500
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:737124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:25741868
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9004933	Idiopathic Basal Ganglia Calcification 5		ISO	RGD:737124	D	RGD:7240710	20180130	OMIM			
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9004933	Idiopathic Basal Ganglia Calcification 5		ISO	RGD:737124	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 | ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5 | ClinVar Annotator: match by term: PDGFB-related disorder	PMID:20301594|PMID:23913003|PMID:25211641|PMID:25741868|PMID:26599395|PMID:28492532|PMID:29955172|PMID:35747618
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9005372	Inflammation		ISO	RGD:737124	D	RGD:9068941	20200609	RGD			PMID:11780721|REF_RGD_ID:6482691
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:11068	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:retina	PMID:14685146|REF_RGD_ID:2311648
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3283	D	RGD:9068941	20200609	RGD			PMID:9763208|REF_RGD_ID:10449499
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3283	D	RGD:9068941	20200609	RGD		mRNA: increased expression: mesenteric artery	PMID:21367419|REF_RGD_ID:6483042
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3283	D	RGD:9068941	20200609	RGD		mRNA:increased expression:glomerulus	PMID:8094359|REF_RGD_ID:2311650
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3283	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina	PMID:12606528|REF_RGD_ID:1581759
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9006010	Gingival Hyperplasia		ISO	RGD:737124	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8708960
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9006039	Ageusia		ISO	RGD:737124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogeusia	PMID:25741868
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:3283	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:tubule, S3 segment:	PMID:10550325|REF_RGD_ID:8554477
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9007546	Idiopathic Basal Ganglia Calcification 1		ISO	RGD:737124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ferrocalcinosis, cerebrovascular | ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1	PMID:25741868|PMID:28492532
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:3283	D	RGD:9068941	20200609	RGD		protein:decreased expression:nerve fiber:	PMID:9893812|REF_RGD_ID:10449496
8737027	Pdgfb	platelet derived growth factor subunit B	gene	DOID:9008691	Liver Injury		ISO	RGD:3283	D	RGD:9068941	20200609	RGD			PMID:8119696|REF_RGD_ID:10449498
8737061	Setd4	SET domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8737061	Setd4	SET domain containing 4	gene	DOID:1115	sarcoma		ISO	RGD:1353006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8737061	Setd4	SET domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1353006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8737061	Setd4	SET domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1353006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8737061	Setd4	SET domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737061	Setd4	SET domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8737112	Slco4c1	solute carrier organic anion transporter family member 4C1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8737112	Slco4c1	solute carrier organic anion transporter family member 4C1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8737112	Slco4c1	solute carrier organic anion transporter family member 4C1	gene	DOID:10534	stomach cancer		ISO	RGD:1354473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8737112	Slco4c1	solute carrier organic anion transporter family member 4C1	gene	DOID:1074	kidney failure		ISO	RGD:1303048	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney	PMID:14993604|REF_RGD_ID:1303977
8737112	Slco4c1	solute carrier organic anion transporter family member 4C1	gene	DOID:1115	sarcoma		ISO	RGD:1354473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8737112	Slco4c1	solute carrier organic anion transporter family member 4C1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8737112	Slco4c1	solute carrier organic anion transporter family member 4C1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737112	Slco4c1	solute carrier organic anion transporter family member 4C1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8737112	Slco4c1	solute carrier organic anion transporter family member 4C1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8737112	Slco4c1	solute carrier organic anion transporter family member 4C1	gene	DOID:9256	colorectal cancer		ISO	RGD:1354473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8737137	Zswim4	zinc finger SWIM-type containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8737137	Zswim4	zinc finger SWIM-type containing 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8737137	Zswim4	zinc finger SWIM-type containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1345804	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8737137	Zswim4	zinc finger SWIM-type containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737137	Zswim4	zinc finger SWIM-type containing 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8737137	Zswim4	zinc finger SWIM-type containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8737137	Zswim4	zinc finger SWIM-type containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8737137	Zswim4	zinc finger SWIM-type containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8737137	Zswim4	zinc finger SWIM-type containing 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8737158	Luc7l	LUC7 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8737158	Luc7l	LUC7 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8737158	Luc7l	LUC7 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8737158	Luc7l	LUC7 like	gene	DOID:1115	sarcoma		ISO	RGD:1316796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8737158	Luc7l	LUC7 like	gene	DOID:1909	melanoma		ISO	RGD:1316796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8737158	Luc7l	LUC7 like	gene	DOID:4362	cervical cancer		ISO	RGD:1316796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8737158	Luc7l	LUC7 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737158	Luc7l	LUC7 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8737158	Luc7l	LUC7 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:0070019	autosomal recessive dyskeratosis congenita 3		ISO	RGD:1605665	D	RGD:7240710	20180130	OMIM			
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:0070019	autosomal recessive dyskeratosis congenita 3		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 3 | ClinVar Annotator: match by term: WRAP53-related condition	PMID:20301779|PMID:21205863|PMID:21602826|PMID:25741868|PMID:26822237|PMID:28125078|PMID:28492532|PMID:30552426|PMID:34573280|PMID:36116037|PMID:39316766
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:10534	stomach cancer		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:1324	lung cancer		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: tumor	PMID:25741868|PMID:37149759
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:1612	breast cancer		ISO	RGD:1605665	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast Cancer	
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:1612	breast cancer	no_association	ISO	RGD:1605665	D	RGD:9068941	20200609	RGD		DNA:SNP: : rs2287499(human)	PMID:25134915|REF_RGD_ID:21081531
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:1909	melanoma		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:1984	rectal benign neoplasm	treatment	ISO	RGD:1605665	D	RGD:9068941	20200609	RGD			PMID:22805008|REF_RGD_ID:21081677
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1605665	D	RGD:9068941	20200609	RGD			PMID:26426684|REF_RGD_ID:11522675
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:2394	ovarian cancer	susceptibility	ISO	RGD:1605665	D	RGD:9068941	20200609	RGD		DNA:SNPs: :	PMID:23192612|REF_RGD_ID:21081534
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita	PMID:25741868|PMID:26822237|PMID:28125078|PMID:28492532|PMID:36116037
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:3012	Li-Fraumeni syndrome		ISO	RGD:1605665	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni	PMID:17576681|PMID:17683073|PMID:18511570|PMID:20522432|PMID:21056402|PMID:23172776|PMID:24033266|PMID:25741868|PMID:25762628|PMID:26681312|PMID:28492532|PMID:9242456|PMID:9536098
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:1605665	D	RGD:9068941	20200609	RGD			PMID:24626331|REF_RGD_ID:21081532
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1605665	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:30344734|REF_RGD_ID:21081519
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1605665	D	RGD:9068941	20200609	RGD		RNA:increased expression:lung	PMID:31281482|REF_RGD_ID:21081513
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1605665	D	RGD:9068941	20200609	RGD			PMID:28347242|REF_RGD_ID:21081522
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:4362	cervical cancer		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:5520	head and neck squamous cell carcinoma	treatment	ISO	RGD:1605665	D	RGD:9068941	20200609	RGD			PMID:25070141|PMID:25456005|REF_RGD_ID:21081529|REF_RGD_ID:21081533
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605665	D	RGD:9068941	20200609	RGD		RNA:increased expression:liver:	PMID:26551349|REF_RGD_ID:11096781
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:7031	glottis squamous cell carcinoma	disease_progression	ISO	RGD:1605665	D	RGD:9068941	20200609	RGD			PMID:28849066|REF_RGD_ID:21081521
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1605665	D	RGD:9068941	20200609	RGD		associated with esophagus squamous cell carcinoma;	PMID:24626331|REF_RGD_ID:21081532
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1605665	D	RGD:9068941	20200609	RGD		associated with lung non-small cell carcinoma;	PMID:31281482|REF_RGD_ID:21081513
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:9004373	Autosomal Recessive Dyskeratosis Congenita		ISO	RGD:1605665	D	RGD:9068941	20260604	RGD		DNA:mutations:exons:	PMID:21205863|REF_RGD_ID:21081678
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605665	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17576681|PMID:21205863|PMID:25741868|PMID:28492532|PMID:9536098
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605665	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:20301779|PMID:21205863|PMID:25741868|PMID:28492532|PMID:32303682|PMID:37149759
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:21205863|PMID:25741868|PMID:28492532
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:9007633	Body Weight		ISO	RGD:1605665	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31243981
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:9256	colorectal cancer		ISO	RGD:1605665	D	RGD:9068941	20200609	RGD			PMID:30175821|REF_RGD_ID:21081520
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:9256	colorectal cancer	onset	ISO	RGD:1605665	D	RGD:9068941	20200609	RGD			PMID:26013439|REF_RGD_ID:21081528
8737172	Wrap53	WD repeat containing antisense to TP53	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1605665	D	RGD:9068941	20200609	RGD		associated with Epstein-Barr Virus Infections; protein:increased expression:nasopharynx epithelium	PMID:28607398|REF_RGD_ID:21081524
8737217	Mall	mal, T cell differentiation protein like	gene	DOID:4362	cervical cancer		ISO	RGD:1342796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8737225	Kcne5	potassium voltage-gated channel subfamily E regulatory subunit 5	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1345038	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)	PMID:25741868|PMID:28492532|PMID:30847666
8737225	Kcne5	potassium voltage-gated channel subfamily E regulatory subunit 5	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1345038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:18313602|PMID:24144883|PMID:25741868|PMID:28492532|PMID:33950154
8737240	Anxa10	annexin A10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8737240	Anxa10	annexin A10	gene	DOID:10534	stomach cancer		ISO	RGD:1318989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8737240	Anxa10	annexin A10	gene	DOID:1115	sarcoma		ISO	RGD:1318989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8737240	Anxa10	annexin A10	gene	DOID:1793	pancreatic cancer		ISO	RGD:1318989	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28369074
8737240	Anxa10	annexin A10	gene	DOID:4362	cervical cancer		ISO	RGD:1318989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8737240	Anxa10	annexin A10	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1318989	D	RGD:9068941	20220901	RGD		mRNA:decreased expression:liver (human)	PMID:35693827|REF_RGD_ID:153344586
8737240	Anxa10	annexin A10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8737255	Igfbp6	insulin like growth factor binding protein 6	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:735616	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
8737255	Igfbp6	insulin like growth factor binding protein 6	gene	DOID:127	leiomyoma		ISO	RGD:735616	D	RGD:9068941	20200609	RGD		uterine leiomyoma;  mRNA:decreased expression:tumor:versus adjacent normal myometrium, by microarray	PMID:15705628|REF_RGD_ID:2301708
8737255	Igfbp6	insulin like growth factor binding protein 6	gene	DOID:1324	lung cancer		ISO	RGD:735616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8737255	Igfbp6	insulin like growth factor binding protein 6	gene	DOID:1612	breast cancer		ISO	RGD:735616	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:in patients with breast cancer versus benign breast disease (p=0.016)	PMID:10069662|REF_RGD_ID:2301715
8737255	Igfbp6	insulin like growth factor binding protein 6	gene	DOID:1612	breast cancer	no_association	ISO	RGD:735616	D	RGD:9068941	20200609	RGD		lower serum expression in cases vs controls but association not significant in multivariate analysis	PMID:17287408|REF_RGD_ID:2301716
8737255	Igfbp6	insulin like growth factor binding protein 6	gene	DOID:2773	contact dermatitis		ISO	RGD:735616	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
8737255	Igfbp6	insulin like growth factor binding protein 6	gene	DOID:289	endometriosis		ISO	RGD:735616	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
8737255	Igfbp6	insulin like growth factor binding protein 6	gene	DOID:8719	in situ carcinoma		ISO	RGD:735616	D	RGD:9068941	20200609	RGD		testicular CIS;  mRNA:increased expression:tumor	PMID:15123780|REF_RGD_ID:2301712
8737255	Igfbp6	insulin like growth factor binding protein 6	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735616	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15846301
8737255	Igfbp6	insulin like growth factor binding protein 6	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:735616	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8737255	Igfbp6	insulin like growth factor binding protein 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8737255	Igfbp6	insulin like growth factor binding protein 6	gene	DOID:9007692	Insulin Resistance		ISO	RGD:735616	D	RGD:9068941	20200609	RGD		human transgene overexpressed in mouse brain	PMID:15889232|REF_RGD_ID:2301717
8737255	Igfbp6	insulin like growth factor binding protein 6	gene	DOID:9719	neovascular inflammatory vitreoretinopathy	severity	ISO	RGD:735616	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous,serum:	PMID:23808406|REF_RGD_ID:10411880
8737255	Igfbp6	insulin like growth factor binding protein 6	gene	DOID:9970	obesity		ISO	RGD:735616	D	RGD:9068941	20200609	RGD		human transgene overexpressed in mouse brain	PMID:15889232|REF_RGD_ID:2301717
8737268	Calcrl	calcitonin receptor like receptor	gene	DOID:0080600	COVID-19		ISO	RGD:733108	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8737268	Calcrl	calcitonin receptor like receptor	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:733108	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
8737268	Calcrl	calcitonin receptor like receptor	gene	DOID:3454	brain infarction		ISO	RGD:2255	D	RGD:9068941	20230527	RGD		mRNA:increased expression:brain (rat)	PMID:23251410|REF_RGD_ID:329845556
8737268	Calcrl	calcitonin receptor like receptor	gene	DOID:9006957	Lymphatic Malformation 8		ISO	RGD:733108	D	RGD:7240710	20200226	OMIM			
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:0050742	nicotine dependence		ISO	RGD:1603019	D	RGD:9068941	20241107	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:1603019	D	RGD:9068941	20231102	RGD		DNA:SNP:: (rs1062935) (human)	PMID:18438686|REF_RGD_ID:401851917
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:0060058	lymphoma		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:1115	sarcoma		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:1324	lung cancer		ISO	RGD:1603019	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:1909	melanoma		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:3275	thymoma		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603019	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:9009121	lung metastasis		ISO	RGD:1323418	D	RGD:9068941	20220630	RGD			PMID:29809146|REF_RGD_ID:152995516
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8737328	Rptor	regulatory associated protein of MTOR complex 1	gene	DOID:9923	developmental coordination disorder		ISO	RGD:1603019	D	RGD:9068941	20201218	CTD		CTD Direct Evidence: therapeutic	PMID:32773031
8737378	P4ha3	prolyl 4-hydroxylase subunit alpha 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8737378	P4ha3	prolyl 4-hydroxylase subunit alpha 3	gene	DOID:1115	sarcoma		ISO	RGD:1346978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8737378	P4ha3	prolyl 4-hydroxylase subunit alpha 3	gene	DOID:1324	lung cancer		ISO	RGD:1346978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8737378	P4ha3	prolyl 4-hydroxylase subunit alpha 3	gene	DOID:1909	melanoma		ISO	RGD:1346978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8737378	P4ha3	prolyl 4-hydroxylase subunit alpha 3	gene	DOID:3275	thymoma		ISO	RGD:1346978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8737378	P4ha3	prolyl 4-hydroxylase subunit alpha 3	gene	DOID:4362	cervical cancer		ISO	RGD:1346978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8737378	P4ha3	prolyl 4-hydroxylase subunit alpha 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8737378	P4ha3	prolyl 4-hydroxylase subunit alpha 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8737378	P4ha3	prolyl 4-hydroxylase subunit alpha 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8737394	Patl2	PAT1 homolog 2	gene	DOID:1100	ovarian disease		ISO	RGD:1317343	D	RGD:9068941	20220825	MouseDO			
8737394	Patl2	PAT1 homolog 2	gene	DOID:1115	sarcoma		ISO	RGD:2303478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8737394	Patl2	PAT1 homolog 2	gene	DOID:4362	cervical cancer		ISO	RGD:2303478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8737394	Patl2	PAT1 homolog 2	gene	DOID:5041	esophageal cancer		ISO	RGD:2303478	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8737394	Patl2	PAT1 homolog 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2303478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737394	Patl2	PAT1 homolog 2	gene	DOID:630	genetic disease		ISO	RGD:2303478	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8737394	Patl2	PAT1 homolog 2	gene	DOID:9000602	Oocyte Maturation Defect 4		ISO	RGD:2303478	D	RGD:7240710	20190315	OMIM			
8737394	Patl2	PAT1 homolog 2	gene	DOID:9000602	Oocyte Maturation Defect 4		ISO	RGD:2303478	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 4 | ClinVar Annotator: match by term: Oocyte maturation defect 4	PMID:24033266|PMID:25741868|PMID:28965844|PMID:28965849|PMID:29661911|PMID:32552793|PMID:33614659
8737426	Golph3	golgi phosphoprotein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8737426	Golph3	golgi phosphoprotein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1349293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8737426	Golph3	golgi phosphoprotein 3	gene	DOID:1324	lung cancer		ISO	RGD:1349293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8737426	Golph3	golgi phosphoprotein 3	gene	DOID:1909	melanoma		ISO	RGD:1349293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8737426	Golph3	golgi phosphoprotein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1349293	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8737426	Golph3	golgi phosphoprotein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737442	Gna15	G protein subunit alpha 15	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8737442	Gna15	G protein subunit alpha 15	gene	DOID:4362	cervical cancer		ISO	RGD:732130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8737442	Gna15	G protein subunit alpha 15	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8737442	Gna15	G protein subunit alpha 15	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8737442	Gna15	G protein subunit alpha 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8737456	Lamtor4	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4	gene	DOID:1324	lung cancer		ISO	RGD:1604690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8737456	Lamtor4	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4	gene	DOID:4362	cervical cancer		ISO	RGD:1604690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8737456	Lamtor4	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0050562	West syndrome		ISO	RGD:737322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Infantile spasms | ClinVar Annotator: match by term: West syndrome	PMID:19557857|PMID:20887364|PMID:21193638|PMID:23934111|PMID:25326390|PMID:25741868|PMID:26384463|PMID:26514728|PMID:27184330|PMID:28492532|PMID:29186148|PMID:30174244|PMID:30266908|PMID:30540253|PMID:31221716|PMID:31474318|PMID:32112430
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:737322	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20876469|PMID:20887364|PMID:21762454|PMID:21770924|PMID:22211739|PMID:22368301|PMID:22495311|PMID:22612257|PMID:22722545|PMID:23409955|PMID:23662938|PMID:23708187|PMID:23757202|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25008876|PMID:25131622|PMID:25356970|PMID:25418441|PMID:25497044|PMID:25533962|PMID:25556537|PMID:25658047|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28387360|PMID:28387369|PMID:28492532|PMID:28628100|PMID:28947817|PMID:29056246|PMID:29186148|PMID:29264391|PMID:29314583|PMID:29655203|PMID:29896790|PMID:30109124|PMID:30397338|PMID:30504930|PMID:30842647|PMID:31255830|PMID:31474318|PMID:32238909|PMID:32581362|PMID:9536098
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:737322	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20887364|PMID:21762454|PMID:21770924|PMID:22495311|PMID:22612257|PMID:22722545|PMID:23409955|PMID:23757202|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25131622|PMID:25356970|PMID:25418441|PMID:25497044|PMID:25533962|PMID:25556537|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28492532|PMID:29186148|PMID:29264391|PMID:29655203|PMID:29761117|PMID:30397338|PMID:30504930|PMID:30842647|PMID:31255830|PMID:31474318|PMID:32238909|PMID:32581362|PMID:9536098
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0050952	spastic ataxia		ISO	RGD:737322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:28492532|PMID:34445196
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:737322	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:23858467|PMID:25741868|PMID:28492532|PMID:30504930|PMID:31175295|PMID:33272087
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:16806828|PMID:16829045|PMID:17301226|PMID:18469812|PMID:19557857|PMID:20196795|PMID:20876469|PMID:20887364|PMID:21062273|PMID:21204804|PMID:21364700|PMID:21762454|PMID:21770924|PMID:22495311|PMID:22722545|PMID:23020937|PMID:23409955|PMID:24623842|PMID:24836964|PMID:25621899|PMID:25714420|PMID:25914188|PMID:26514728|PMID:26537360|PMID:26865513|PMID:27184330|PMID:9545644
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0060249	scoliosis		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0060470	salt and pepper syndrome		ISO	RGD:737322	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: GM3 synthase deficiency | ClinVar Annotator: match by term: Infantile epilepsy syndrome	PMID:18414213|PMID:19557857|PMID:20887364|PMID:21762454|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23934111|PMID:24033266|PMID:24781210|PMID:25326635|PMID:25356970|PMID:25497044|PMID:25533962|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27779742|PMID:28135719|PMID:28492532|PMID:29186148|PMID:29264391|PMID:29761117|PMID:30842647|PMID:31474318|PMID:32238909
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0060470	salt and pepper syndrome		ISO	RGD:737322	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Infantile epilepsy syndrome	PMID:18414213|PMID:19557857|PMID:20887364|PMID:21762454|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23934111|PMID:24033266|PMID:24781210|PMID:25326635|PMID:25356970|PMID:25497044|PMID:25533962|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27779742|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28947817|PMID:29186148|PMID:29264391|PMID:29761117|PMID:30185235|PMID:30842647|PMID:31474318|PMID:32238909|PMID:32643187
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0060470	salt and pepper syndrome		ISO	RGD:737322	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Infantile epilepsy syndrome	PMID:18414213|PMID:19557857|PMID:20887364|PMID:21762454|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23934111|PMID:24033266|PMID:24781210|PMID:25326635|PMID:25356970|PMID:25473036|PMID:25497044|PMID:25533962|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27779742|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28947817|PMID:29186148|PMID:29264391|PMID:29761117|PMID:30185235|PMID:30842647|PMID:31474318|PMID:32238909|PMID:32643187
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0060470	salt and pepper syndrome		ISO	RGD:737322	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: GM3 synthase deficiency | ClinVar Annotator: match by term: Infantile epilepsy syndrome	PMID:17576681|PMID:18414213|PMID:19557857|PMID:20887364|PMID:21762454|PMID:21770924|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23708187|PMID:23934111|PMID:24033266|PMID:24315539|PMID:24781210|PMID:25008876|PMID:25326635|PMID:25356970|PMID:25473036|PMID:25497044|PMID:25533962|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27779742|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28947817|PMID:29186148|PMID:29264391|PMID:29761117|PMID:30185235|PMID:30842647|PMID:31474318|PMID:32238909|PMID:32371413|PMID:32643187|PMID:33176815|PMID:9536098
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0060470	salt and pepper syndrome		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GM3 synthase deficiency | ClinVar Annotator: match by term: Infantile epilepsy syndrome	PMID:18414213|PMID:20887364|PMID:21762454|PMID:23708187|PMID:23934111|PMID:24781210|PMID:25356970|PMID:25497044|PMID:25533962|PMID:25693842|PMID:25714420|PMID:25741868|PMID:26384463|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26993267|PMID:27171548|PMID:28387369|PMID:28492532|PMID:28947817|PMID:29186148|PMID:29264391|PMID:29761117|PMID:31474318|PMID:32643187|PMID:34145886
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0060470	salt and pepper syndrome		ISO	RGD:737322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GM3 synthase deficiency | ClinVar Annotator: match by term: Infantile epilepsy syndrome	PMID:19557857|PMID:20887364|PMID:21762454|PMID:23708187|PMID:23934111|PMID:25533962|PMID:25693842|PMID:25714420|PMID:25741868|PMID:26384463|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26648591|PMID:26865513|PMID:27171548|PMID:27184330|PMID:28387369|PMID:28492532|PMID:28947817|PMID:29264391|PMID:29761117|PMID:31474318|PMID:34145886
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0070309	absence epilepsy		ISO	RGD:737322	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Absence seizure | ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:19557857|PMID:20887364|PMID:23708187|PMID:23934111|PMID:25741868|PMID:26384463|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26993267|PMID:27184330|PMID:28492532|PMID:31855252
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25533962|PMID:25741868|PMID:26865513|PMID:28492532|PMID:29761117|PMID:31474318
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0080436	developmental and epileptic encephalopathy 4		ISO	RGD:737322	D	RGD:7240710	20180130	OMIM			
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0080436	developmental and epileptic encephalopathy 4		ISO	RGD:737322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 4 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 | ClinVar Annotator: match by term: STXBP1-related disorder	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20876469|PMID:20887364|PMID:21762454|PMID:21770924|PMID:23409955|PMID:23533165|PMID:23662938|PMID:23708187|PMID:23858467|PMID:23934111|PMID:24315539|PMID:24623842|PMID:25008876|PMID:25131622|PMID:25284778|PMID:25533962|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25951140|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26648591|PMID:26740508|PMID:26865513|PMID:26993267|PMID:27069701|PMID:27171548|PMID:27184330|PMID:27652284|PMID:27779742|PMID:28191889|PMID:28387369|PMID:28492532|PMID:28628100|PMID:28947817|PMID:29067685|PMID:29186148|PMID:29314583|PMID:29389947|PMID:29538625|PMID:29655203|PMID:29758562|PMID:29760947|PMID:29761117|PMID:30174244|PMID:30488659|PMID:30504930|PMID:31175295|PMID:31255830|PMID:31474318|PMID:31780880|PMID:31855252|PMID:32238909|PMID:32581362|PMID:33004838|PMID:33196034|PMID:33272087|PMID:33644862|PMID:34008892|PMID:34145886|PMID:34489640|PMID:34906502|PMID:35002760|PMID:35007884|PMID:35190816|PMID:35627257|PMID:35655584|PMID:35851549|PMID:36278550|PMID:36571524|PMID:36882827|PMID:37056358|PMID:37471090|PMID:9536098
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0080918	polymicrogyria		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0110059	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Keratosis pilaris	PMID:23708187|PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:11361	D	RGD:9068941	20200609	RGD			PMID:26216965|REF_RGD_ID:11532386
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0110139	Bardet-Biedl syndrome 17		ISO	RGD:11361	D	RGD:9068941	20200609	RGD		protein:increased expression:photoreceptor outer segment layer	PMID:26216965|REF_RGD_ID:11532386
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0111428	essential tremor 1		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:25741868
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:737322	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Developmental and Epileptic Encephalopathy with Joint Laxity | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20603329|PMID:20876469|PMID:20887364|PMID:21062273|PMID:21193638|PMID:21364700|PMID:21762454|PMID:21770924|PMID:21900502|PMID:22211739|PMID:22368301|PMID:22495311|PMID:22612257|PMID:22722545|PMID:23020937|PMID:23409955|PMID:23662938|PMID:23708187|PMID:23757202|PMID:23858467|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25008876|PMID:25131622|PMID:25326390|PMID:25356970|PMID:25418441|PMID:25497044|PMID:25533962|PMID:25556537|PMID:25640679|PMID:25658047|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27652284|PMID:27779742|PMID:27798625|PMID:28133863|PMID:28135719|PMID:28387360|PMID:28387369|PMID:28492532|PMID:28628100|PMID:28947817|PMID:29056246|PMID:29067685|PMID:29186148|PMID:29264391|PMID:29314583|PMID:29538625|PMID:29655203|PMID:29761117|PMID:29896790|PMID:30174244|PMID:30185235|PMID:30266908|PMID:30397338|PMID:30488659|PMID:30504930|PMID:30540253|PMID:30842647|PMID:31175295|PMID:31221716|PMID:31255830|PMID:31332438|PMID:31474318|PMID:31780880|PMID:32112430|PMID:32238909|PMID:32521962|PMID:32581362|PMID:32643187|PMID:32960281|PMID:33004838|PMID:33196034|PMID:33206935|PMID:33272087|PMID:34489640|PMID:35007884|PMID:35655584|PMID:9536098
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:737322	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:16199547|PMID:18469812|PMID:20876469|PMID:20887364|PMID:21762454|PMID:22211739|PMID:23409955|PMID:23708187|PMID:23934111|PMID:25714420|PMID:25741868|PMID:26384463|PMID:26648591|PMID:26865513|PMID:27171548|PMID:28387360|PMID:28387369|PMID:28492532|PMID:28628100|PMID:28947817|PMID:29314583|PMID:29538625|PMID:29896790|PMID:30174244|PMID:30504930|PMID:31175295|PMID:33272087|PMID:34145886
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:10283	prostate cancer		ISO	RGD:737322	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:10283	prostate cancer		ISO	RGD:737322	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:10579	leukodystrophy		ISO	RGD:737322	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:19557857|PMID:20887364|PMID:25741868|PMID:26384463|PMID:26514728|PMID:27184330|PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:737322	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:20887364|PMID:21770924|PMID:22612257|PMID:23708187|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:25008876|PMID:25418441|PMID:25533962|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26865513|PMID:26918652|PMID:27159321|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28492532|PMID:30842647|PMID:32581362
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency	PMID:21770924|PMID:23708187|PMID:23858467|PMID:24315539|PMID:25008876|PMID:25741868|PMID:26514728|PMID:27779742|PMID:28492532|PMID:29067685|PMID:29186148|PMID:30504930|PMID:31175295|PMID:33196034|PMID:33272087|PMID:33644862|PMID:34489640|PMID:35007884|PMID:36882827
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:10754	otitis media		ISO	RGD:737322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:23708187|PMID:23934111|PMID:25693842|PMID:25741868|PMID:26514728|PMID:26544041|PMID:26633542|PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:10892	hypospadias		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:24623842|PMID:25741868|PMID:26865513|PMID:28492532|PMID:31855252|PMID:35002760|PMID:35190816|PMID:35851549|PMID:36882827|PMID:37471090
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:10907	microcephaly		ISO	RGD:737322	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:19557857|PMID:20887364|PMID:25741868|PMID:26384463|PMID:26514728|PMID:27184330|PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:10908	hydrocephalus		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aqueductal stenosis	PMID:24623842|PMID:25741868|PMID:26865513|PMID:28492532|PMID:31855252|PMID:35002760|PMID:35190816|PMID:35851549|PMID:36882827|PMID:37471090
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:11383	cryptorchidism		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:1143	exotropia		ISO	RGD:737322	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:19557857|PMID:20887364|PMID:25741868|PMID:26384463|PMID:26514728|PMID:27184330|PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:11723	Duchenne muscular dystrophy		ISO	RGD:11361	D	RGD:9068941	20200609	RGD			PMID:26604869|REF_RGD_ID:12903957
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:11782	astigmatism		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:11830	myopia		ISO	RGD:737322	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:19557857|PMID:20887364|PMID:25741868|PMID:26384463|PMID:26514728|PMID:27184330|PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:1205	allergic disease		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:23708187|PMID:23934111|PMID:25741868|PMID:26514728|PMID:26544041|PMID:26633542|PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:737322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:23708187|PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:737322	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autistic disorder	PMID:23708187|PMID:23934111|PMID:26514728|PMID:26544041|PMID:26633542|PMID:28492532|PMID:32581362
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:737322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:21770924|PMID:23858467|PMID:24315539|PMID:25008876|PMID:25693842|PMID:25741868|PMID:26514728|PMID:26865513|PMID:28492532|PMID:30504930|PMID:31175295|PMID:32581362|PMID:33272087
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:20887364|PMID:23593750|PMID:24033266|PMID:25533962|PMID:25741868|PMID:26384463|PMID:26865513|PMID:26918652|PMID:27159321|PMID:28135719|PMID:28492532|PMID:32371413|PMID:33176815
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:13250	diarrhea		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:25693842|PMID:25741868|PMID:26514728|PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:14264	benign neonatal seizures		ISO	RGD:737322	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neonatal seizure	PMID:21770924|PMID:24315539|PMID:25008876|PMID:25741868|PMID:26514728|PMID:27779742|PMID:28492532|PMID:29067685|PMID:29186148|PMID:33196034|PMID:33644862|PMID:35007884|PMID:36882827
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:1459	hypothyroidism		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:18	urinary system disease		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the urinary system	
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:1824	status epilepticus		ISO	RGD:737322	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:19557857|PMID:20887364|PMID:25741868|PMID:26384463|PMID:26514728|PMID:27184330|PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:1826	epilepsy		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:18414213|PMID:18469812|PMID:20887364|PMID:21204804|PMID:22495311|PMID:23409955|PMID:23708187|PMID:23934111|PMID:24781210|PMID:25356970|PMID:25693842|PMID:25741868|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26795593|PMID:26865513|PMID:26993267|PMID:27069701|PMID:28492532|PMID:29264391|PMID:31855252|PMID:32112430|PMID:32643187
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:1826	epilepsy		ISO	RGD:737322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:18469812|PMID:19557857|PMID:20887364|PMID:21204804|PMID:23409955|PMID:23708187|PMID:23934111|PMID:25693842|PMID:25741868|PMID:26384463|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26993267|PMID:27184330|PMID:28492532|PMID:31855252
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:20887364|PMID:21762454|PMID:23934111|PMID:25714420|PMID:25741868|PMID:26648591|PMID:27171548|PMID:28387369|PMID:28492532|PMID:28947817|PMID:32581362|PMID:34145886
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:1969	cerebral palsy		ISO	RGD:737322	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:19557857|PMID:20887364|PMID:25693842|PMID:25741868|PMID:26384463|PMID:26514728|PMID:27184330|PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:2234	focal epilepsy		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:23858467|PMID:25741868|PMID:28492532|PMID:30504930|PMID:31175295|PMID:33272087
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:737322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:24623842|PMID:25741868|PMID:26865513|PMID:28492532|PMID:31855252|PMID:35002760|PMID:35190816|PMID:35851549|PMID:36882827|PMID:37471090
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:2846	bruxism		ISO	RGD:737322	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bruxism	PMID:19557857|PMID:20887364|PMID:25741868|PMID:26384463|PMID:26514728|PMID:27184330|PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:3044	food allergy		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Food allergy	PMID:20887364|PMID:22612257|PMID:23708187|PMID:23934111|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:4481	allergic rhinitis		ISO	RGD:737322	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	PMID:25473036|PMID:25741868
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:4702	mongolian spot		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	PMID:25741868
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:535	sleep disorder		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:23708187|PMID:23934111|PMID:25741868|PMID:26514728|PMID:26544041|PMID:26633542|PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:540	strabismus		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:543	dystonia		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:552	pneumonia		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:19557857|PMID:20887364|PMID:23708187|PMID:25741868|PMID:26384463|PMID:26514728|PMID:27184330|PMID:28492532|PMID:29655203
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:6132	bronchitis		ISO	RGD:737322	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bronchitis	PMID:19557857|PMID:20887364|PMID:25741868|PMID:26384463|PMID:26514728|PMID:27184330|PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:630	genetic disease		ISO	RGD:737322	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16806828|PMID:16829045|PMID:17301226|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20196795|PMID:20876469|PMID:20887364|PMID:21062273|PMID:21204804|PMID:21364700|PMID:21762454|PMID:21770924|PMID:22495311|PMID:22722545|PMID:23020937|PMID:23409955|PMID:23858467|PMID:23934111|PMID:24315539|PMID:24623842|PMID:24781210|PMID:24836964|PMID:25008876|PMID:25356970|PMID:25533962|PMID:25556537|PMID:25621899|PMID:25714420|PMID:25741868|PMID:25914188|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26537360|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26993267|PMID:27171548|PMID:27184330|PMID:27779742|PMID:27798625|PMID:28387369|PMID:28492532|PMID:28947817|PMID:29067685|PMID:29186148|PMID:29264391|PMID:29761117|PMID:30504930|PMID:31175295|PMID:32643187|PMID:32960281|PMID:33196034|PMID:33272087|PMID:33644862|PMID:34145886|PMID:34490615|PMID:34568804|PMID:35007884|PMID:36882827|PMID:9536098|PMID:9545644
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:630	genetic disease		ISO	RGD:737322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16806828|PMID:16829045|PMID:17301226|PMID:17576681|PMID:18469812|PMID:19557857|PMID:20196795|PMID:20876469|PMID:20887364|PMID:21062273|PMID:21204804|PMID:21364700|PMID:21762454|PMID:21770924|PMID:22495311|PMID:22722545|PMID:23020937|PMID:23409955|PMID:23858467|PMID:23934111|PMID:24315539|PMID:24623842|PMID:24781210|PMID:24836964|PMID:25008876|PMID:25533962|PMID:25556537|PMID:25621899|PMID:25714420|PMID:25741868|PMID:25914188|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26537360|PMID:26648591|PMID:26865513|PMID:27171548|PMID:27184330|PMID:27779742|PMID:27798625|PMID:28387369|PMID:28492532|PMID:28947817|PMID:29067685|PMID:29186148|PMID:29264391|PMID:29761117|PMID:30504930|PMID:31175295|PMID:32960281|PMID:33196034|PMID:33272087|PMID:33644862|PMID:34145886|PMID:34490615|PMID:34568804|PMID:35007884|PMID:36882827|PMID:9536098|PMID:9545644
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:6543	acne		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acne	PMID:25741868
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized tonic-clonic seizures	PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:8488	polyhydramnios		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:23708187|PMID:23934111|PMID:25741868|PMID:26514728|PMID:26544041|PMID:26633542|PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:737322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:20887364|PMID:23708187|PMID:23934111|PMID:25741868|PMID:26384463|PMID:26514728|PMID:26544041|PMID:26633542|PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:9000495	Tremor		ISO	RGD:737322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868|PMID:26993267|PMID:31855252
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:737322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:20887364|PMID:21762454|PMID:23934111|PMID:25714420|PMID:25741868|PMID:26384463|PMID:26514728|PMID:26648591|PMID:26865513|PMID:28492532|PMID:31855252|PMID:32238909|PMID:35190816
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:9001581	Constipation		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:20887364|PMID:23708187|PMID:23934111|PMID:25693842|PMID:25741868|PMID:26384463|PMID:26514728|PMID:26544041|PMID:26633542|PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:9002563	Gait Ataxia		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:737322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:19557857|PMID:20887364|PMID:25741868|PMID:26384463|PMID:26514728|PMID:26865513|PMID:27184330|PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:9003507	Premature Birth		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:23858467|PMID:25741868|PMID:28492532|PMID:30504930|PMID:31175295|PMID:33272087
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:737322	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889|PMID:29942082
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:24623842|PMID:25741868|PMID:26865513|PMID:28492532|PMID:31855252|PMID:35002760|PMID:35190816|PMID:35851549|PMID:36882827|PMID:37471090
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:9004866	Ataxia		ISO	RGD:737322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Incoordination	PMID:23858467|PMID:25741868|PMID:26865513|PMID:26993267|PMID:28492532|PMID:30504930|PMID:31175295|PMID:31855252|PMID:33272087
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:737322	D	RGD:9068941	20211210	CTD		CTD Direct Evidence: marker/mechanism	PMID:18469812|PMID:29929108
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:18414213|PMID:20887364|PMID:23708187|PMID:23934111|PMID:24781210|PMID:25356970|PMID:25497044|PMID:25693842|PMID:25741868|PMID:26384463|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26795593|PMID:26865513|PMID:26993267|PMID:28492532|PMID:29186148|PMID:29264391|PMID:32643187
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:737322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:20887364|PMID:23708187|PMID:23934111|PMID:25693842|PMID:25741868|PMID:26384463|PMID:26514728|PMID:26544041|PMID:26633542|PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:9007356	Eczema		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Eczema	PMID:24781210|PMID:25741868|PMID:26795593|PMID:26865513|PMID:26993267|PMID:27779742|PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:9007892	Tics		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tics	PMID:23708187|PMID:23934111|PMID:25741868|PMID:26514728|PMID:26544041|PMID:26633542|PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:737322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19557857|PMID:20887364|PMID:23858467|PMID:25741868|PMID:26384463|PMID:26514728|PMID:26993267|PMID:27184330|PMID:28492532|PMID:30504930|PMID:31175295|PMID:31855252|PMID:33272087
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:9008675	Dyskinesias		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:25741868
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:20887364|PMID:24623842|PMID:25741868|PMID:26384463|PMID:26865513|PMID:28492532|PMID:31855252|PMID:35002760|PMID:35190816|PMID:35851549|PMID:36882827|PMID:37471090
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:936	brain disease		ISO	RGD:737322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:19557857|PMID:20887364|PMID:25741868|PMID:26384463|PMID:26514728|PMID:27184330|PMID:28492532
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:9834	hyperopia		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:9840	esotropia		ISO	RGD:737322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
8737462	Stxbp1	syntaxin binding protein 1	gene	DOID:9970	obesity		ISO	RGD:737322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:23858467|PMID:25741868|PMID:28492532|PMID:30504930|PMID:31175295|PMID:33272087
8737485	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8737485	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:0111212	autosomal dominant distal hereditary motor neuronopathy 9		ISO	RGD:1317961	D	RGD:7240710	20190315	OMIM			
8737485	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:0111212	autosomal dominant distal hereditary motor neuronopathy 9		ISO	RGD:1317961	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 9 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 9	PMID:25741868|PMID:28369220|PMID:34813128|PMID:35790048|PMID:35815345
8737485	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8737485	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:1909	melanoma		ISO	RGD:1317961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8737485	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:3275	thymoma		ISO	RGD:1317961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8737485	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1317961	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
8737485	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:5419	schizophrenia		ISO	RGD:1317961	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8737485	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737485	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8737485	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:630	genetic disease		ISO	RGD:1317961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8737485	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:9003923	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES		ISO	RGD:1317961	D	RGD:7240710	20230621	OMIM			
8737485	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:9003923	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES		ISO	RGD:1317961	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | ClinVar Annotator: match by term: WARS1-related condition	PMID:25741868|PMID:28492532|PMID:34585293|PMID:35790048|PMID:35815345
8737485	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1317961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
8737485	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8737485	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317961	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Developmental Delay	PMID:36937954
8737485	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8737485	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1317961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8737509	Mrpl22	mitochondrial ribosomal protein L22	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8737509	Mrpl22	mitochondrial ribosomal protein L22	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8737509	Mrpl22	mitochondrial ribosomal protein L22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737509	Mrpl22	mitochondrial ribosomal protein L22	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8737536	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8737536	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:1115	sarcoma		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8737536	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:1324	lung cancer		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8737536	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8737536	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8737536	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8737536	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:5041	esophageal cancer		ISO	RGD:1626574	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Esophageal cancer	
8737536	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737536	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8737536	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8737536	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8737536	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8737536	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8737574	Fam184a	family with sequence similarity 184 member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8737574	Fam184a	family with sequence similarity 184 member A	gene	DOID:10534	stomach cancer		ISO	RGD:1322675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8737574	Fam184a	family with sequence similarity 184 member A	gene	DOID:1826	epilepsy		ISO	RGD:1322675	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Epilepsy	
8737574	Fam184a	family with sequence similarity 184 member A	gene	DOID:1909	melanoma		ISO	RGD:1322675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8737574	Fam184a	family with sequence similarity 184 member A	gene	DOID:2394	ovarian cancer		ISO	RGD:1322675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8737574	Fam184a	family with sequence similarity 184 member A	gene	DOID:303	substance-related disorder		ISO	RGD:1322675	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8737574	Fam184a	family with sequence similarity 184 member A	gene	DOID:3275	thymoma		ISO	RGD:1322675	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8737574	Fam184a	family with sequence similarity 184 member A	gene	DOID:4362	cervical cancer		ISO	RGD:1322675	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8737574	Fam184a	family with sequence similarity 184 member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1322675	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8737574	Fam184a	family with sequence similarity 184 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737574	Fam184a	family with sequence similarity 184 member A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8737574	Fam184a	family with sequence similarity 184 member A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8737574	Fam184a	family with sequence similarity 184 member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8737574	Fam184a	family with sequence similarity 184 member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8737574	Fam184a	family with sequence similarity 184 member A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8737621	Cenpi	centromere protein I	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8737621	Cenpi	centromere protein I	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8737621	Cenpi	centromere protein I	gene	DOID:10534	stomach cancer		ISO	RGD:733555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8737621	Cenpi	centromere protein I	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8737621	Cenpi	centromere protein I	gene	DOID:1909	melanoma		ISO	RGD:733555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8737621	Cenpi	centromere protein I	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:733555	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
8737621	Cenpi	centromere protein I	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8737621	Cenpi	centromere protein I	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737621	Cenpi	centromere protein I	gene	DOID:6039	uveal melanoma		ISO	RGD:733555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8737621	Cenpi	centromere protein I	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8737621	Cenpi	centromere protein I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8737621	Cenpi	centromere protein I	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8737621	Cenpi	centromere protein I	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8737645	Med15	mediator complex subunit 15	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1316826	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
8737645	Med15	mediator complex subunit 15	gene	DOID:10534	stomach cancer		ISO	RGD:1316826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8737645	Med15	mediator complex subunit 15	gene	DOID:1115	sarcoma		ISO	RGD:1316826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8737645	Med15	mediator complex subunit 15	gene	DOID:1909	melanoma		ISO	RGD:1316826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8737645	Med15	mediator complex subunit 15	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8737645	Med15	mediator complex subunit 15	gene	DOID:4362	cervical cancer		ISO	RGD:1316826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8737645	Med15	mediator complex subunit 15	gene	DOID:5419	schizophrenia		ISO	RGD:1316826	D	RGD:9068941	20250724	RGD			PMID:12497610|REF_RGD_ID:1358555
8737645	Med15	mediator complex subunit 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737645	Med15	mediator complex subunit 15	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8737645	Med15	mediator complex subunit 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8737645	Med15	mediator complex subunit 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8737680	Mapk4	mitogen-activated protein kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:736964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8737680	Mapk4	mitogen-activated protein kinase 4	gene	DOID:3275	thymoma		ISO	RGD:736964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8737680	Mapk4	mitogen-activated protein kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737680	Mapk4	mitogen-activated protein kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8737693	Pknox2	PBX/knotted 1 homeobox 2	gene	DOID:0050741	alcohol dependence		ISO	RGD:1348448	D	RGD:9068941	20240502	RGD		associated with other drug dependencies; DNA:SNPs:CDS:intron (rs750338)	PMID:27151647|REF_RGD_ID:405650603
8737693	Pknox2	PBX/knotted 1 homeobox 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8737693	Pknox2	PBX/knotted 1 homeobox 2	gene	DOID:1909	melanoma		ISO	RGD:1348448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8737693	Pknox2	PBX/knotted 1 homeobox 2	gene	DOID:3275	thymoma		ISO	RGD:1348448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8737693	Pknox2	PBX/knotted 1 homeobox 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737693	Pknox2	PBX/knotted 1 homeobox 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1348448	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
8737693	Pknox2	PBX/knotted 1 homeobox 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8737693	Pknox2	PBX/knotted 1 homeobox 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8737717	Trim23	tripartite motif containing 23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8737717	Trim23	tripartite motif containing 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8737717	Trim23	tripartite motif containing 23	gene	DOID:1115	sarcoma		ISO	RGD:1606340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8737717	Trim23	tripartite motif containing 23	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8737717	Trim23	tripartite motif containing 23	gene	DOID:2394	ovarian cancer		ISO	RGD:1606340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8737717	Trim23	tripartite motif containing 23	gene	DOID:3275	thymoma		ISO	RGD:1606340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8737717	Trim23	tripartite motif containing 23	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8737717	Trim23	tripartite motif containing 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737717	Trim23	tripartite motif containing 23	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8737717	Trim23	tripartite motif containing 23	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8737717	Trim23	tripartite motif containing 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8737717	Trim23	tripartite motif containing 23	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8737732	Chrna6	cholinergic receptor nicotinic alpha 6 subunit	gene	DOID:0050742	nicotine dependence		ISO	RGD:733511	D	RGD:9068941	20240530	RGD		DNA:SNP: :rs2304297(human)	PMID:18704094|REF_RGD_ID:405849394
8737732	Chrna6	cholinergic receptor nicotinic alpha 6 subunit	gene	DOID:0050742	nicotine dependence		ISO	RGD:733511	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:20418888|PMID:28851948
8737732	Chrna6	cholinergic receptor nicotinic alpha 6 subunit	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:733511	D	RGD:9068941	20240523	RGD		DNA:SNP,haplotypes: :	PMID:28851948|REF_RGD_ID:405849281
8737732	Chrna6	cholinergic receptor nicotinic alpha 6 subunit	gene	DOID:0060001	withdrawal disorder		ISO	RGD:733511	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19644040
8737732	Chrna6	cholinergic receptor nicotinic alpha 6 subunit	gene	DOID:10534	stomach cancer		ISO	RGD:733511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8737732	Chrna6	cholinergic receptor nicotinic alpha 6 subunit	gene	DOID:1574	alcohol use disorder	severity	ISO	RGD:733511	D	RGD:9068941	20240530	RGD		DNA:haplotypes: :	PMID:19698703|REF_RGD_ID:405849410
8737732	Chrna6	cholinergic receptor nicotinic alpha 6 subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737732	Chrna6	cholinergic receptor nicotinic alpha 6 subunit	gene	DOID:809	cocaine abuse	susceptibility	ISO	RGD:733511	D	RGD:9068941	20240523	RGD		DNA:SNP::rs892413(human)	PMID:24675634|REF_RGD_ID:405849277
8737732	Chrna6	cholinergic receptor nicotinic alpha 6 subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8737732	Chrna6	cholinergic receptor nicotinic alpha 6 subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8737740	Amd1	adenosylmethionine decarboxylase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8737740	Amd1	adenosylmethionine decarboxylase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8737740	Amd1	adenosylmethionine decarboxylase 1	gene	DOID:10283	prostate cancer		ISO	RGD:1351440	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate	PMID:30397274|REF_RGD_ID:14390073
8737740	Amd1	adenosylmethionine decarboxylase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8737740	Amd1	adenosylmethionine decarboxylase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8737740	Amd1	adenosylmethionine decarboxylase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8737740	Amd1	adenosylmethionine decarboxylase 1	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1351440	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1279590(human)	PMID:30650190|REF_RGD_ID:14390072
8737740	Amd1	adenosylmethionine decarboxylase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1351440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8737740	Amd1	adenosylmethionine decarboxylase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8737740	Amd1	adenosylmethionine decarboxylase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737740	Amd1	adenosylmethionine decarboxylase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8737740	Amd1	adenosylmethionine decarboxylase 1	gene	DOID:9002569	Overweight		ISO	RGD:1351440	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2796749(human)	PMID:22496743|REF_RGD_ID:14390074
8737740	Amd1	adenosylmethionine decarboxylase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8737753	Piwil4	piwi like RNA-mediated gene silencing 4	gene	DOID:14228	oligospermia		ISO	RGD:1322245	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:20940137
8737802	Syt10	synaptotagmin 10	gene	DOID:10534	stomach cancer		ISO	RGD:1346254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8737802	Syt10	synaptotagmin 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8737802	Syt10	synaptotagmin 10	gene	DOID:4362	cervical cancer		ISO	RGD:1346254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8737802	Syt10	synaptotagmin 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8737802	Syt10	synaptotagmin 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1346254	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8737802	Syt10	synaptotagmin 10	gene	DOID:9007090	Experimental Seizures		ISO	RGD:62041	D	RGD:9068941	20241214	RGD			PMID:9122248|REF_RGD_ID:61761
8737826	Alas1	5'-aminolevulinate synthase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8737826	Alas1	5'-aminolevulinate synthase 1	gene	DOID:13268	porphyria		ISO	RGD:68392	D	RGD:9068941	20200609	RGD		protein:increased activity:liver (rat)	PMID:7547054|REF_RGD_ID:4145274
8737826	Alas1	5'-aminolevulinate synthase 1	gene	DOID:13268	porphyria		ISO	RGD:68572	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9222176
8737826	Alas1	5'-aminolevulinate synthase 1	gene	DOID:1909	melanoma		ISO	RGD:68572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8737826	Alas1	5'-aminolevulinate synthase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:68572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8737826	Alas1	5'-aminolevulinate synthase 1	gene	DOID:3275	thymoma		ISO	RGD:68572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8737826	Alas1	5'-aminolevulinate synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737826	Alas1	5'-aminolevulinate synthase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:68572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8737826	Alas1	5'-aminolevulinate synthase 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:68392	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (rat)	PMID:16181105|REF_RGD_ID:4144185
8737826	Alas1	5'-aminolevulinate synthase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8737826	Alas1	5'-aminolevulinate synthase 1	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:68392	D	RGD:9068941	20200609	RGD		protein:increased activity:liver (rat)	PMID:16846079|REF_RGD_ID:4144834
8737826	Alas1	5'-aminolevulinate synthase 1	gene	DOID:9004484	Sepsis		ISO	RGD:68392	D	RGD:9068941	20200609	RGD		mRNA:increased expression:duodenum, jejunum, ileum (rat)	PMID:12627002|REF_RGD_ID:4144178
8737826	Alas1	5'-aminolevulinate synthase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:68392	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver (rat)	PMID:6688350|REF_RGD_ID:4144808
8737826	Alas1	5'-aminolevulinate synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8737826	Alas1	5'-aminolevulinate synthase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8737826	Alas1	5'-aminolevulinate synthase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8737826	Alas1	5'-aminolevulinate synthase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:68572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8737845	Naa80	N-alpha-acetyltransferase 80, NatH catalytic subunit	gene	DOID:9006673	AURONEURODENTAL SYNDROME		ISO	RGD:1350941	D	RGD:7240710	20251008	OMIM			
8737858	Slc35f3	solute carrier family 35 member F3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8737858	Slc35f3	solute carrier family 35 member F3	gene	DOID:1115	sarcoma		ISO	RGD:1347980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8737858	Slc35f3	solute carrier family 35 member F3	gene	DOID:1909	melanoma		ISO	RGD:1347980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8737858	Slc35f3	solute carrier family 35 member F3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8737858	Slc35f3	solute carrier family 35 member F3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8737858	Slc35f3	solute carrier family 35 member F3	gene	DOID:5041	esophageal cancer		ISO	RGD:1347980	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8737858	Slc35f3	solute carrier family 35 member F3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8737858	Slc35f3	solute carrier family 35 member F3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8737875	Stn1	STN1 subunit of CST complex	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1313785	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23583980
8737875	Stn1	STN1 subunit of CST complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8737875	Stn1	STN1 subunit of CST complex	gene	DOID:10534	stomach cancer		ISO	RGD:1313785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8737875	Stn1	STN1 subunit of CST complex	gene	DOID:1909	melanoma		ISO	RGD:1313785	D	RGD:9068941	20220610	RGD		DNA:SNP:cds:rs9420907|rs2995264 (human)	PMID:25231748|REF_RGD_ID:152995261
8737875	Stn1	STN1 subunit of CST complex	gene	DOID:3275	thymoma		ISO	RGD:1313785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8737875	Stn1	STN1 subunit of CST complex	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1313785	D	RGD:9068941	20221215	CTD		CTD Direct Evidence: marker/mechanism	PMID:28346442
8737875	Stn1	STN1 subunit of CST complex	gene	DOID:4362	cervical cancer		ISO	RGD:1313785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8737875	Stn1	STN1 subunit of CST complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737875	Stn1	STN1 subunit of CST complex	gene	DOID:630	genetic disease		ISO	RGD:1313785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8737875	Stn1	STN1 subunit of CST complex	gene	DOID:9003025	Cerebroretinal Microangiopathy with Calcifications and Cysts		ISO	RGD:1313785	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8737875	Stn1	STN1 subunit of CST complex	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1313785	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28604730
8737875	Stn1	STN1 subunit of CST complex	gene	DOID:9005983	Cerebroretinal Microangiopathy with Calcifications and Cysts 2		ISO	RGD:1313785	D	RGD:7240710	20190315	OMIM			
8737875	Stn1	STN1 subunit of CST complex	gene	DOID:9005983	Cerebroretinal Microangiopathy with Calcifications and Cysts 2		ISO	RGD:1313785	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition	PMID:25741868|PMID:27432940|PMID:28492532|PMID:28934486|PMID:32135276
8737875	Stn1	STN1 subunit of CST complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8737875	Stn1	STN1 subunit of CST complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8737875	Stn1	STN1 subunit of CST complex	gene	DOID:936	brain disease		ISO	RGD:1313785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brain disorder	
8737893	C1galt1c1	C1GALT1 specific chaperone 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8737893	C1galt1c1	C1GALT1 specific chaperone 1	gene	DOID:0080520	Tn polyagglutination syndrome		ISO	RGD:1344219	D	RGD:7240710	20180130	OMIM			
8737893	C1galt1c1	C1GALT1 specific chaperone 1	gene	DOID:9002623	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE		ISO	RGD:1344219	D	RGD:7240710	20230830	OMIM			
8737893	C1galt1c1	C1GALT1 specific chaperone 1	gene	DOID:9002623	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE		ISO	RGD:1344219	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: C1GALT1C1-related condition | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature | ClinVar Annotator: match by term: hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature	PMID:25741868|PMID:28492532|PMID:36599939|PMID:37216524|PMID:39949072
8737893	C1galt1c1	C1GALT1 specific chaperone 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8737941	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8737941	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8737941	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:0061113	retinitis pigmentosa 78		ISO	RGD:1322915	D	RGD:7240710	20190315	OMIM			
8737941	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:0061113	retinitis pigmentosa 78		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ARHGEF18-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 78 | ClinVar Annotator: match by term: Retinitis pigmentosa 78	PMID:25741868|PMID:28132693|PMID:28492532|PMID:32581362
8737941	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:10534	stomach cancer		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8737941	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8737941	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:1115	sarcoma		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8737941	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:1324	lung cancer		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8737941	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:1909	melanoma		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8737941	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:3070	high grade glioma		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8737941	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8737941	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:4362	cervical cancer		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8737941	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1322915	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8737941	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8737941	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:5723	optic atrophy		ISO	RGD:1322915	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8737941	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8737941	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:630	genetic disease		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8737941	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8737941	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:8501	fundus dystrophy		ISO	RGD:1322915	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:25741868|PMID:28132693|PMID:28492532
8737941	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8737941	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8738033	Sgpl1	sphingosine-1-phosphate lyase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8738033	Sgpl1	sphingosine-1-phosphate lyase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8738033	Sgpl1	sphingosine-1-phosphate lyase 1	gene	DOID:0080265	RENI syndrome		ISO	RGD:1347742	D	RGD:7240710	20190315	OMIM			
8738033	Sgpl1	sphingosine-1-phosphate lyase 1	gene	DOID:0080265	RENI syndrome		ISO	RGD:1347742	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome 14 | ClinVar Annotator: match by term: RENI SYNDROME | ClinVar Annotator: match by term: SGPL1-related condition	PMID:25741868|PMID:28165339|PMID:28165343|PMID:28181337|PMID:28492532|PMID:29127259|PMID:29378355|PMID:30090628|PMID:30517686|PMID:31130284|PMID:32233035|PMID:35904228|PMID:35972040
8738033	Sgpl1	sphingosine-1-phosphate lyase 1	gene	DOID:1115	sarcoma		ISO	RGD:1347742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8738033	Sgpl1	sphingosine-1-phosphate lyase 1	gene	DOID:1324	lung cancer		ISO	RGD:1347742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8738033	Sgpl1	sphingosine-1-phosphate lyase 1	gene	DOID:1909	melanoma		ISO	RGD:1347742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8738033	Sgpl1	sphingosine-1-phosphate lyase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8738033	Sgpl1	sphingosine-1-phosphate lyase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8738033	Sgpl1	sphingosine-1-phosphate lyase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8738033	Sgpl1	sphingosine-1-phosphate lyase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347742	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8738033	Sgpl1	sphingosine-1-phosphate lyase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738033	Sgpl1	sphingosine-1-phosphate lyase 1	gene	DOID:630	genetic disease		ISO	RGD:1347742	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:29378355
8738033	Sgpl1	sphingosine-1-phosphate lyase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8738033	Sgpl1	sphingosine-1-phosphate lyase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8738033	Sgpl1	sphingosine-1-phosphate lyase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8738033	Sgpl1	sphingosine-1-phosphate lyase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1347742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:732601	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:15557452|PMID:24043777|PMID:25741868|PMID:28492532|PMID:29202463|PMID:36909829
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:0110402	retinitis pigmentosa 45		ISO	RGD:732601	D	RGD:7240710	20180130	OMIM			
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:0110402	retinitis pigmentosa 45		ISO	RGD:732601	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CNGB1-related condition | ClinVar Annotator: match by term: CNGB1-related retinopathy | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 45 | ClinVar Annotator: match by term: Retinitis pigmentosa 45	PMID:14661080|PMID:15557452|PMID:16199547|PMID:21147909|PMID:21987686|PMID:23105016|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25412400|PMID:25741868|PMID:26894784|PMID:28005958|PMID:28041643|PMID:28056120|PMID:28492532|PMID:29202463|PMID:30367527|PMID:30902645|PMID:32531858|PMID:33465333|PMID:33546218|PMID:33576794|PMID:33847019|PMID:34209753|PMID:34906470|PMID:36672815|PMID:36819107|PMID:36909829
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:10534	stomach cancer		ISO	RGD:732601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:732601	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11379879|PMID:15557452|PMID:16199547|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29912909|PMID:30718709|PMID:30902645|PMID:32037395|PMID:33546218|PMID:9536098
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:732601	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11379879|PMID:15557452|PMID:16199547|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23661369|PMID:24043777|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:32037395|PMID:32613137|PMID:33546218|PMID:33576794|PMID:9536098
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:732601	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11379879|PMID:15557452|PMID:16199547|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23661369|PMID:24043777|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:32037395|PMID:32613137|PMID:33546218|PMID:33576794|PMID:33847019|PMID:33946315|PMID:9536098
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:732601	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:11379879|PMID:15557452|PMID:16199547|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:32037395|PMID:32613137|PMID:33546218|PMID:33576794|PMID:33847019|PMID:33946315|PMID:9536098
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:732601	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11379879|PMID:15557452|PMID:16199547|PMID:17032466|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29597005|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:31931872|PMID:32037395|PMID:32613137|PMID:33546218|PMID:33576794|PMID:33847019|PMID:33946315|PMID:34906470|PMID:9536098
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:732601	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11379879|PMID:15557452|PMID:16199547|PMID:17032466|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29597005|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:31931872|PMID:32037395|PMID:32531858|PMID:32581362|PMID:32613137|PMID:33394956|PMID:33546218|PMID:33576794|PMID:33847019|PMID:33946315|PMID:34906470|PMID:35743231|PMID:36909829|PMID:9536098
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:732601	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:11379879|PMID:15557452|PMID:16199547|PMID:17032466|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:27989324|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29597005|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:31931872|PMID:32037395|PMID:32531858|PMID:32581362|PMID:32613137|PMID:33394956|PMID:33546218|PMID:33576794|PMID:33847019|PMID:33946315|PMID:34795310|PMID:34906470|PMID:35743231|PMID:36909829|PMID:9536098
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:732601	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11379879|PMID:15557452|PMID:16199547|PMID:17032466|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29202463|PMID:29597005|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:31725169|PMID:31931872|PMID:32037395|PMID:32531858|PMID:32581362|PMID:32613137|PMID:33394956|PMID:33546218|PMID:33576794|PMID:33847019|PMID:33946315|PMID:34795310|PMID:34906470|PMID:35743231|PMID:36819107|PMID:36909829|PMID:9536098
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:732601	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:11379879|PMID:15557452|PMID:16199547|PMID:17032466|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29202463|PMID:29597005|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:31725169|PMID:31931872|PMID:32037395|PMID:32531858|PMID:32581362|PMID:32613137|PMID:33394956|PMID:33546218|PMID:33576794|PMID:33847019|PMID:33946315|PMID:34662339|PMID:34795310|PMID:34906470|PMID:35743231|PMID:36819107|PMID:36909829|PMID:9536098
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:732601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:15557452|PMID:16199547|PMID:17576681|PMID:21987686|PMID:23484092|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:26355662|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:29202463|PMID:30718709|PMID:30902645|PMID:31570810|PMID:32531858|PMID:32581362|PMID:32613137|PMID:33576794|PMID:33847019|PMID:33946315|PMID:34906470|PMID:35119454|PMID:35743231|PMID:36819107|PMID:36909829|PMID:9536098
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:732601	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:15557452|PMID:16199547|PMID:17576681|PMID:21147909|PMID:21987686|PMID:23105016|PMID:23484092|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:26355662|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29202463|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:31725169|PMID:32037395|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32613137|PMID:33576794|PMID:33749171|PMID:33847019|PMID:33946315|PMID:34426522|PMID:34906470|PMID:35743231|PMID:35836572|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9536098
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:1909	melanoma		ISO	RGD:732601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:5679	retinal disease		ISO	RGD:732601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:15557452|PMID:16199547|PMID:24043777|PMID:25741868|PMID:28492532|PMID:29202463|PMID:30902645|PMID:31570810|PMID:33847019|PMID:36819107|PMID:38219857
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:5723	optic atrophy		ISO	RGD:732601	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:630	genetic disease		ISO	RGD:732601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:732601	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:15557452|PMID:16199547|PMID:21987686|PMID:23591405|PMID:24043777|PMID:24670920|PMID:24938718|PMID:25356976|PMID:25741868|PMID:25943428|PMID:25999674|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:29202463|PMID:29706639|PMID:29800053|PMID:30718709|PMID:31345219|PMID:31456290|PMID:31589614|PMID:3196484|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32581362|PMID:33465333|PMID:33576794|PMID:3384701|PMID:33847019|PMID:34426522|PMID:34906470|PMID:35456422|PMID:3646071|PMID:36460718|PMID:36819107|PMID:37107588|PMID:37734845|PMID:38576124|PMID:38705136|PMID:39462066
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8738054	Cngb1	cyclic nucleotide gated channel subunit beta 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738091	Atp6v1g1	ATPase H+ transporting V1 subunit G1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8738091	Atp6v1g1	ATPase H+ transporting V1 subunit G1	gene	DOID:10534	stomach cancer		ISO	RGD:1320793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8738091	Atp6v1g1	ATPase H+ transporting V1 subunit G1	gene	DOID:1115	sarcoma		ISO	RGD:1320793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8738091	Atp6v1g1	ATPase H+ transporting V1 subunit G1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8738102	Smtnl2	smoothelin like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8738102	Smtnl2	smoothelin like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8738102	Smtnl2	smoothelin like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738102	Smtnl2	smoothelin like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738163	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26990548|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:32864802|PMID:33077954|PMID:34008892|PMID:34653404
8738163	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26990548|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34653404
8738163	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34509255|PMID:34602496|PMID:34653404
8738163	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34509255|PMID:34602496|PMID:34653404
8738163	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34509255|PMID:34602496|PMID:34653404|PMID:35239206|PMID:36522254
8738163	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33051673|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:35239206|PMID:35741838|PMID:36522254|PMID:6368217
8738163	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33051673|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:6368217
8738163	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:6368217
8738163	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:37526466|PMID:6368217
8738163	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16717227|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28482373|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32403337|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:37154180|PMID:37526466|PMID:37688281|PMID:6368217
8738163	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:1464708|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16717227|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28482373|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32403337|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33146414|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:37154180|PMID:37526466|PMID:37688281|PMID:38374194|PMID:6368217
8738163	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:1464708|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16717227|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28482373|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32403337|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33146414|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:37154180|PMID:37526466|PMID:37688281|PMID:38374194|PMID:39326416|PMID:6368217
8738163	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:1464708|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16717227|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19556129|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28482373|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32403337|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33146414|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:37154180|PMID:37526466|PMID:37688281|PMID:38374194|PMID:39326416|PMID:6368217
8738163	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:1464708|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16717227|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19556129|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21270786|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:27981572|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28482373|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32403337|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33146414|PMID:33200426|PMID:33250842|PMID:33513091|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:37154180|PMID:37526466|PMID:37688281|PMID:38374194|PMID:39326416|PMID:6368217
8738163	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11592034|PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:1464708|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17446099|PMID:17554798|PMID:17559086|PMID:18060779|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18691338|PMID:18752264|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20236121|PMID:20623375|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22983245|PMID:23576288|PMID:23591631|PMID:23757202|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26990548|PMID:27363342|PMID:27439679|PMID:27671536|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:30003095|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:32342672|PMID:32351701|PMID:32429923|PMID:32576226|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33146414|PMID:33200426|PMID:33250842|PMID:33513091|PMID:34008892|PMID:34509255|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35557983|PMID:35741838|PMID:37273706|PMID:37516995|PMID:37526466|PMID:37730220|PMID:38127101|PMID:38374194|PMID:39326416|PMID:39678382|PMID:41315541
8738163	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle-eye-brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11592034|PMID:11741828|PMID:12666124|PMID:12707425|PMID:14523375|PMID:1464708|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15833426|PMID:15883334|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16717227|PMID:17336067|PMID:17446099|PMID:17554798|PMID:17994539|PMID:18414213|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19955119|PMID:20236121|PMID:20623375|PMID:21293871|PMID:21886772|PMID:22323514|PMID:22451200|PMID:22983245|PMID:23420653|PMID:23591631|PMID:23757202|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:25135358|PMID:25741868|PMID:25802880|PMID:25987458|PMID:26320847|PMID:26436962|PMID:26467025|PMID:26923585|PMID:27363342|PMID:27439679|PMID:27671536|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28482373|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:29065428|PMID:30003095|PMID:30107846|PMID:30210031|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31671740|PMID:31931849|PMID:32342672|PMID:32351701|PMID:32403337|PMID:32429923|PMID:32576226|PMID:32864802|PMID:33051673|PMID:33077954|PMID:33146414|PMID:33200426|PMID:33250842|PMID:33513091|PMID:34426522|PMID:34440373|PMID:34509255|PMID:34653404|PMID:35741838|PMID:37154180|PMID:37516995|PMID:37526466|PMID:37730220|PMID:38374194|PMID:38406381|PMID:39326416|PMID:39408683|PMID:39678382|PMID:41315541
8738163	Fkrp	fukutin related protein	gene	DOID:0050588	muscular dystrophy-dystroglycanopathy type B1		ISO	RGD:1314134	D	RGD:9068941	20220825	MouseDO		OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094	
8738163	Fkrp	fukutin related protein	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314133	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:16368217|PMID:21816046|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26990548|PMID:28492532
8738163	Fkrp	fukutin related protein	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314133	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:11741828|PMID:16344347|PMID:16368217|PMID:16717227|PMID:17994539|PMID:18832576|PMID:21816046|PMID:22451200|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26990548|PMID:27884173|PMID:28482373|PMID:28492532|PMID:28688748|PMID:32403337|PMID:37154180
8738163	Fkrp	fukutin related protein	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:11741828|PMID:16344347|PMID:16717227|PMID:17994539|PMID:18832576|PMID:22451200|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28482373|PMID:28492532|PMID:28688748|PMID:32403337|PMID:34426522|PMID:37154180|PMID:39408683
8738163	Fkrp	fukutin related protein	gene	DOID:0060260	ptosis		ISO	RGD:1314133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:12666124|PMID:15060126|PMID:15121789|PMID:16476814|PMID:16634037|PMID:18639457|PMID:19155270|PMID:25741868|PMID:26923585|PMID:28492532|PMID:33051673
8738163	Fkrp	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:11741828|PMID:12666124|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31268217|PMID:32419263|PMID:32746448|PMID:34008892|PMID:34653404
8738163	Fkrp	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive	PMID:11741828|PMID:12666124|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32419263|PMID:32429923|PMID:32746448|PMID:34008892|PMID:34653404
8738163	Fkrp	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive	PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27302555|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:34008892|PMID:34653404
8738163	Fkrp	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive	PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21970816|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27302555|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:34008892|PMID:34440373|PMID:34653404|PMID:35239206
8738163	Fkrp	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive	PMID:10838249|PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19155270|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21970816|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:27302555|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:34008892|PMID:34440373|PMID:34653404|PMID:35239206
8738163	Fkrp	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive	PMID:10838249|PMID:11592034|PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18160674|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19155270|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21970816|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:27302555|PMID:27439679|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:33200426|PMID:34008892|PMID:34440373|PMID:34653404|PMID:35239206
8738163	Fkrp	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive	PMID:10838249|PMID:11592034|PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18160674|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19155270|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21970816|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:27302555|PMID:27439679|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30232282|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:32914449|PMID:33200426|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34653404|PMID:35239206
8738163	Fkrp	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:10838249|PMID:11592034|PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19155270|PMID:19299310|PMID:19556129|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21296577|PMID:21970816|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24447024|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:27302555|PMID:27439679|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30232282|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32746448|PMID:32914449|PMID:33200426|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34653404|PMID:35239206|PMID:36522254|PMID:39326416
8738163	Fkrp	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:12666124|PMID:15060126|PMID:15121789|PMID:16368217|PMID:16476814|PMID:16634037|PMID:17336067|PMID:18639457|PMID:19155270|PMID:21970816|PMID:25741868|PMID:26923585|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29101272|PMID:31041397|PMID:31671740|PMID:31931849|PMID:33051673|PMID:34653404|PMID:37516995|PMID:38374194|PMID:41315541
8738163	Fkrp	fukutin related protein	gene	DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I		ISO	RGD:1314133	D	RGD:7240710	20180130	OMIM			
8738163	Fkrp	fukutin related protein	gene	DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I		ISO	RGD:1314133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy type 2I | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED	PMID:10838249|PMID:11592034|PMID:11741828|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15883334|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16717227|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18160674|PMID:18414213|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19556129|PMID:19833706|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:21296577|PMID:22323514|PMID:22451200|PMID:22983245|PMID:23420653|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:25135358|PMID:25252238|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26436962|PMID:26467025|PMID:26923585|PMID:27142102|PMID:27439679|PMID:27671536|PMID:27848944|PMID:27884173|PMID:28454995|PMID:28482373|PMID:28492532|PMID:28569743|PMID:2868874|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32153140|PMID:32342672|PMID:32403337|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33051673|PMID:33146414|PMID:33200426|PMID:33513091|PMID:33961310|PMID:34379075|PMID:34426522|PMID:34440373|PMID:34509255|PMID:34653404|PMID:34958143|PMID:35239206|PMID:36399172|PMID:36522254|PMID:36575883|PMID:37154180|PMID:37688281|PMID:37852290|PMID:37927270|PMID:37974208|PMID:38406381|PMID:39408683|PMID:39678382|PMID:39891418|PMID:6368217
8738163	Fkrp	fukutin related protein	gene	DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I	treatment	ISO	RGD:1314133	D	RGD:9068941	20200609	RGD			PMID:25048216|REF_RGD_ID:11667961
8738163	Fkrp	fukutin related protein	gene	DOID:0110635	muscular dystrophy-dystroglycanopathy type B5		ISO	RGD:1314133	D	RGD:7240710	20180130	OMIM			
8738163	Fkrp	fukutin related protein	gene	DOID:0110635	muscular dystrophy-dystroglycanopathy type B5		ISO	RGD:1314133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B5	PMID:11592034|PMID:11741828|PMID:14652796|PMID:15574464|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16717227|PMID:17336067|PMID:17994539|PMID:18414213|PMID:18671187|PMID:18832576|PMID:19244252|PMID:19955119|PMID:20623375|PMID:20961759|PMID:22323514|PMID:22451200|PMID:23420653|PMID:23757202|PMID:23894383|PMID:24033266|PMID:24139536|PMID:25741868|PMID:25802880|PMID:26467025|PMID:27439679|PMID:27671536|PMID:27884173|PMID:28454995|PMID:28482373|PMID:28492532|PMID:28569743|PMID:28688748|PMID:29065428|PMID:31041397|PMID:31268217|PMID:31671740|PMID:31931849|PMID:32403337|PMID:33200426|PMID:33513091|PMID:34426522|PMID:34440373|PMID:34653404|PMID:36522254|PMID:37154180|PMID:38406381|PMID:39408683
8738163	Fkrp	fukutin related protein	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
8738163	Fkrp	fukutin related protein	gene	DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1		ISO	RGD:1314133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	PMID:11741828|PMID:14652796|PMID:16344347|PMID:16717227|PMID:17336067|PMID:17994539|PMID:18414213|PMID:18832576|PMID:22451200|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28482373|PMID:28492532|PMID:28688748|PMID:29065428|PMID:31041397|PMID:31671740|PMID:31931849|PMID:32403337|PMID:34426522|PMID:34653404|PMID:37154180|PMID:39408683
8738163	Fkrp	fukutin related protein	gene	DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5		ISO	RGD:1314133	D	RGD:7240710	20180130	OMIM			
8738163	Fkrp	fukutin related protein	gene	DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5		ISO	RGD:1314133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED	PMID:11592034|PMID:11741828|PMID:12666124|PMID:12707425|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16717227|PMID:17336067|PMID:17994539|PMID:18414213|PMID:18639457|PMID:18671187|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19955119|PMID:20623375|PMID:22323514|PMID:22451200|PMID:23420653|PMID:23757202|PMID:23894383|PMID:24033266|PMID:24139536|PMID:25741868|PMID:25802880|PMID:26436962|PMID:26467025|PMID:26923585|PMID:27439679|PMID:27671536|PMID:27884173|PMID:28454995|PMID:28482373|PMID:28492532|PMID:28569743|PMID:28688748|PMID:29065428|PMID:31041397|PMID:31671740|PMID:31931849|PMID:32403337|PMID:33051673|PMID:33200426|PMID:33513091|PMID:34426522|PMID:34440373|PMID:34653404|PMID:37154180|PMID:38406381|PMID:39408683
8738163	Fkrp	fukutin related protein	gene	DOID:11155	hypohidrosis		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:25741868|PMID:28492532
8738163	Fkrp	fukutin related protein	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	
8738163	Fkrp	fukutin related protein	gene	DOID:11830	myopia		ISO	RGD:1314133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:12666124|PMID:15060126|PMID:15121789|PMID:16476814|PMID:16634037|PMID:18639457|PMID:19155270|PMID:25741868|PMID:26923585|PMID:28492532|PMID:33051673
8738163	Fkrp	fukutin related protein	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1314133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:11741828|PMID:16344347|PMID:16717227|PMID:17994539|PMID:18832576|PMID:22451200|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28482373|PMID:28492532|PMID:28688748|PMID:32403337|PMID:34426522|PMID:37154180|PMID:39408683
8738163	Fkrp	fukutin related protein	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314133	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11741828|PMID:16344347|PMID:16717227|PMID:17994539|PMID:18832576|PMID:22451200|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28482373|PMID:28492532|PMID:28688748|PMID:32403337|PMID:37154180
8738163	Fkrp	fukutin related protein	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11741828|PMID:16344347|PMID:16717227|PMID:17994539|PMID:18832576|PMID:22451200|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28482373|PMID:28492532|PMID:28688748|PMID:32403337|PMID:34426522|PMID:37154180|PMID:39408683
8738163	Fkrp	fukutin related protein	gene	DOID:1826	epilepsy		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:25802880|PMID:26467025|PMID:28492532|PMID:28569743
8738163	Fkrp	fukutin related protein	gene	DOID:2030	anxiety disorder		ISO	RGD:1314133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:12666124|PMID:15060126|PMID:15121789|PMID:16476814|PMID:16634037|PMID:18639457|PMID:19155270|PMID:25741868|PMID:26923585|PMID:28492532|PMID:33051673
8738163	Fkrp	fukutin related protein	gene	DOID:2841	asthma		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
8738163	Fkrp	fukutin related protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738163	Fkrp	fukutin related protein	gene	DOID:7998	hyperthyroidism		ISO	RGD:1314133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:12666124|PMID:15060126|PMID:15121789|PMID:16476814|PMID:16634037|PMID:18639457|PMID:19155270|PMID:25741868|PMID:26923585|PMID:28492532|PMID:33051673
8738163	Fkrp	fukutin related protein	gene	DOID:9000590	Dyspnea		ISO	RGD:1314133	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:29571322
8738163	Fkrp	fukutin related protein	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1314133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:12666124|PMID:15060126|PMID:15121789|PMID:16476814|PMID:16634037|PMID:18639457|PMID:19155270|PMID:25741868|PMID:26923585|PMID:28492532|PMID:33051673
8738163	Fkrp	fukutin related protein	gene	DOID:9000887	Muscular Dystrophy, Animal		ISO	RGD:1314134	D	RGD:9068941	20200609	RGD			PMID:21224063|REF_RGD_ID:11667970
8738163	Fkrp	fukutin related protein	gene	DOID:9000887	Muscular Dystrophy, Animal		ISO	RGD:1314134	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.P448L (1343C>T) (mouse)	PMID:20675713|REF_RGD_ID:11667960
8738163	Fkrp	fukutin related protein	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
8738163	Fkrp	fukutin related protein	gene	DOID:9003717	nonischemic cardiomyopathy		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonischemic cardiomyopathy	PMID:24139536|PMID:25741868|PMID:28492532|PMID:33513091
8738163	Fkrp	fukutin related protein	gene	DOID:9005077	Joint Instability		ISO	RGD:1314133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:12666124|PMID:15060126|PMID:15121789|PMID:16476814|PMID:16634037|PMID:18639457|PMID:19155270|PMID:25741868|PMID:25802880|PMID:26467025|PMID:26923585|PMID:28492532|PMID:28569743|PMID:33051673
8738163	Fkrp	fukutin related protein	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1314133	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:29571322
8738163	Fkrp	fukutin related protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314133	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:25802880|PMID:26467025|PMID:28492532|PMID:28569743
8738163	Fkrp	fukutin related protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
8738163	Fkrp	fukutin related protein	gene	DOID:9008023	Memory Disorders		ISO	RGD:1314133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
8738163	Fkrp	fukutin related protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314133	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:25802880|PMID:26467025|PMID:28492532|PMID:28569743
8738163	Fkrp	fukutin related protein	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
8738163	Fkrp	fukutin related protein	gene	DOID:9884	muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:17336067|PMID:25741868|PMID:28492532|PMID:29065428|PMID:31041397|PMID:31671740|PMID:31931849|PMID:34653404
8738170	Cabcoco1	ciliary associated calcium binding coiled-coil 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8738170	Cabcoco1	ciliary associated calcium binding coiled-coil 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315529	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8738170	Cabcoco1	ciliary associated calcium binding coiled-coil 1	gene	DOID:1115	sarcoma		ISO	RGD:1315529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8738170	Cabcoco1	ciliary associated calcium binding coiled-coil 1	gene	DOID:1909	melanoma		ISO	RGD:1315529	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
8738170	Cabcoco1	ciliary associated calcium binding coiled-coil 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315529	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8738170	Cabcoco1	ciliary associated calcium binding coiled-coil 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315529	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8738170	Cabcoco1	ciliary associated calcium binding coiled-coil 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315529	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8738170	Cabcoco1	ciliary associated calcium binding coiled-coil 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315529	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8738170	Cabcoco1	ciliary associated calcium binding coiled-coil 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315529	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8738170	Cabcoco1	ciliary associated calcium binding coiled-coil 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315529	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738170	Cabcoco1	ciliary associated calcium binding coiled-coil 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315529	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8738170	Cabcoco1	ciliary associated calcium binding coiled-coil 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1315529	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
8738170	Cabcoco1	ciliary associated calcium binding coiled-coil 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8738170	Cabcoco1	ciliary associated calcium binding coiled-coil 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315529	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738183	Ndufb2	NADH:ubiquinone oxidoreductase subunit B2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8738183	Ndufb2	NADH:ubiquinone oxidoreductase subunit B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738183	Ndufb2	NADH:ubiquinone oxidoreductase subunit B2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738192	Pals2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8738192	Pals2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8738192	Pals2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:0080600	COVID-19		ISO	RGD:1323497	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8738192	Pals2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:10534	stomach cancer		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8738192	Pals2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:1115	sarcoma		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8738192	Pals2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:3070	high grade glioma		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8738192	Pals2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738192	Pals2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8738192	Pals2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8738192	Pals2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8738192	Pals2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738210	Tmlhe	trimethyllysine hydroxylase, epsilon	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8738210	Tmlhe	trimethyllysine hydroxylase, epsilon	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:736195	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:31474318
8738210	Tmlhe	trimethyllysine hydroxylase, epsilon	gene	DOID:1059	intellectual disability		ISO	RGD:736195	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868
8738210	Tmlhe	trimethyllysine hydroxylase, epsilon	gene	DOID:1115	sarcoma		ISO	RGD:736195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8738210	Tmlhe	trimethyllysine hydroxylase, epsilon	gene	DOID:11830	myopia		ISO	RGD:736195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
8738210	Tmlhe	trimethyllysine hydroxylase, epsilon	gene	DOID:12849	autistic disorder		ISO	RGD:736195	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 6 | ClinVar Annotator: match by term: Epsilon-trimethyllysine hydroxylase deficiency	PMID:25741868
8738210	Tmlhe	trimethyllysine hydroxylase, epsilon	gene	DOID:12849	autistic disorder	susceptibility	ISO	RGD:736195	D	RGD:7240710	20190502	OMIM			
8738210	Tmlhe	trimethyllysine hydroxylase, epsilon	gene	DOID:1826	epilepsy		ISO	RGD:736195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8738210	Tmlhe	trimethyllysine hydroxylase, epsilon	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8738210	Tmlhe	trimethyllysine hydroxylase, epsilon	gene	DOID:4362	cervical cancer		ISO	RGD:736195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8738210	Tmlhe	trimethyllysine hydroxylase, epsilon	gene	DOID:5419	schizophrenia		ISO	RGD:736195	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
8738210	Tmlhe	trimethyllysine hydroxylase, epsilon	gene	DOID:9003507	Premature Birth		ISO	RGD:736195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
8738210	Tmlhe	trimethyllysine hydroxylase, epsilon	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8738210	Tmlhe	trimethyllysine hydroxylase, epsilon	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738223	Gna14	G protein subunit alpha 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8738223	Gna14	G protein subunit alpha 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8738223	Gna14	G protein subunit alpha 14	gene	DOID:1115	sarcoma		ISO	RGD:1317712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8738223	Gna14	G protein subunit alpha 14	gene	DOID:2394	ovarian cancer		ISO	RGD:1317712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8738223	Gna14	G protein subunit alpha 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738223	Gna14	G protein subunit alpha 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8738223	Gna14	G protein subunit alpha 14	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317712	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8738223	Gna14	G protein subunit alpha 14	gene	DOID:9002189	High Myopia		ISO	RGD:1317712	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
8738223	Gna14	G protein subunit alpha 14	gene	DOID:9002640	CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME		ISO	RGD:1317712	D	RGD:8554872	20230613	ClinVar		ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome	
8738223	Gna14	G protein subunit alpha 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738250	Lsmem2	leucine rich single-pass membrane protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:10763	hypertension		ISO	RGD:735183	D	RGD:9068941	20200609	RGD			PMID:23499735|REF_RGD_ID:11561939
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:1115	sarcoma		ISO	RGD:1347480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1347480	D	RGD:9068941	20200609	RGD		protein:increased expression:heart	PMID:25209900|REF_RGD_ID:11558015
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:1332294	D	RGD:9068941	20200609	RGD			PMID:25386878|REF_RGD_ID:11561930
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:1686	glaucoma		ISO	RGD:735183	D	RGD:9068941	20200609	RGD		protein:increased expression:optic nerve	PMID:24136224|REF_RGD_ID:13782046
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:3068	glioblastoma	treatment	ISO	RGD:1347480	D	RGD:9068941	20200609	RGD			PMID:24905460|REF_RGD_ID:11561946
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:326	ischemia		ISO	RGD:735183	D	RGD:9068941	20200609	RGD			PMID:25435100|REF_RGD_ID:11561945
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1332294	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:23851366|REF_RGD_ID:11561951
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1347480	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:5082	liver cirrhosis		ISO	RGD:1347480	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle	PMID:22895779|REF_RGD_ID:11561934
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:5327	retinal detachment		ISO	RGD:1332294	D	RGD:9068941	20200609	RGD			PMID:26093278|REF_RGD_ID:11561987
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:5327	retinal detachment		ISO	RGD:735183	D	RGD:9068941	20200609	RGD			PMID:26093278|REF_RGD_ID:11561987
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:735183	D	RGD:9068941	20200609	RGD			PMID:20079142|REF_RGD_ID:11561913
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:90	degenerative disc disease		ISO	RGD:735183	D	RGD:9068941	20200609	RGD		protein:increased expression:intervertebral disc	PMID:22835012|REF_RGD_ID:11561942
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:735183	D	RGD:9068941	20200609	RGD			PMID:24559459|REF_RGD_ID:11561918
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:735183	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:23637053|REF_RGD_ID:11564330
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:735183	D	RGD:9068941	20200609	RGD			PMID:23852559|REF_RGD_ID:11561922
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:9000288	Chronic Intermittent Hypoxia		ISO	RGD:735183	D	RGD:9068941	20200609	RGD			PMID:24990154|REF_RGD_ID:11561988
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:9000998	Brain Injuries		ISO	RGD:735183	D	RGD:9068941	20200609	RGD			PMID:24221859|REF_RGD_ID:11558018
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1347480	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:9002211	Hyperalgesia		ISO	RGD:735183	D	RGD:9068941	20200609	RGD			PMID:23665054|REF_RGD_ID:11560531
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:735183	D	RGD:9068941	20200609	RGD			PMID:23884876|REF_RGD_ID:11561935
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:735183	D	RGD:9068941	20200609	RGD		protein:increased expression:lumbar spinal cord ventral horn	PMID:21436843|REF_RGD_ID:5685686
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:735183	D	RGD:9068941	20200609	RGD			PMID:25919564|REF_RGD_ID:11558017
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:735183	D	RGD:9068941	20200609	RGD			PMID:24998254|REF_RGD_ID:11561938
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:9004332	Osteoarthritis, Experimental	treatment	ISO	RGD:735183	D	RGD:9068941	20200609	RGD			PMID:23589102|REF_RGD_ID:11561955
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1332294	D	RGD:9068941	20200609	RGD			PMID:20075199|REF_RGD_ID:11561916
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:735183	D	RGD:9068941	20200609	RGD			PMID:26412257|REF_RGD_ID:11561958
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:9006281	Temporomandibular Joint Disorders		ISO	RGD:735183	D	RGD:9068941	20200609	RGD		protein:increased expression:cartilage tissue	PMID:23386193|REF_RGD_ID:10041017
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:9007558	Acute Experimental Pancreatitis	treatment	ISO	RGD:1332294	D	RGD:9068941	20200609	RGD			PMID:22850625|REF_RGD_ID:11560530
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:9007730	Burns		ISO	RGD:735183	D	RGD:9068941	20200609	RGD			PMID:24730400|REF_RGD_ID:11561936
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1332294	D	RGD:9068941	20200609	RGD		protein:increased expression:heart	PMID:20812860|REF_RGD_ID:11561944
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:735183	D	RGD:9068941	20200609	RGD			PMID:20821058|REF_RGD_ID:11561911
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:735183	D	RGD:9068941	20200609	RGD			PMID:21820301|REF_RGD_ID:11561956
8738258	Map1lc3a	microtubule associated protein 1 light chain 3 alpha	gene	DOID:9408	acute myocardial infarction	treatment	ISO	RGD:735183	D	RGD:9068941	20241026	RGD			PMID:30144448|REF_RGD_ID:407571674
8738264	Rnf39	ring finger protein 39	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8738264	Rnf39	ring finger protein 39	gene	DOID:10534	stomach cancer		ISO	RGD:1604283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8738264	Rnf39	ring finger protein 39	gene	DOID:1115	sarcoma		ISO	RGD:1604283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8738264	Rnf39	ring finger protein 39	gene	DOID:2394	ovarian cancer		ISO	RGD:1604283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8738264	Rnf39	ring finger protein 39	gene	DOID:3275	thymoma		ISO	RGD:1604283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8738264	Rnf39	ring finger protein 39	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8738264	Rnf39	ring finger protein 39	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1604283	D	RGD:9068941	20220714	RGD		mRNA:altered expression:liver (human)	PMID:31687280|REF_RGD_ID:152998978
8738264	Rnf39	ring finger protein 39	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8738264	Rnf39	ring finger protein 39	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1604283	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8738264	Rnf39	ring finger protein 39	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8738264	Rnf39	ring finger protein 39	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738284	Cdh23	cadherin related 23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8738284	Cdh23	cadherin related 23	gene	DOID:0050439	Usher syndrome		ISO	RGD:733851	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:15353998|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21174530|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23794683|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24082139|PMID:24164807|PMID:24416283|PMID:24444108|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25333064|PMID:25356970|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:25991456|PMID:26226137|PMID:26264712|PMID:26346818|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26681316|PMID:26763877|PMID:26969326|PMID:27018795|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27610647|PMID:27627659|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28000701|PMID:28413019|PMID:28483220|PMID:28492532|PMID:28501645|PMID:28847902|PMID:28902392|PMID:28912962|PMID:29048421|PMID:29148562|PMID:29287849|PMID:29343940|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30123251|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30828794|PMID:30872718|PMID:31054281|PMID:31152317|PMID:31445392|PMID:31546658|PMID:31816670|PMID:31872526|PMID:31980526|PMID:32279305|PMID:32467589|PMID:32485727|PMID:32645618|PMID:32707200|PMID:32747562|PMID:32842620|PMID:32860223|PMID:32991204|PMID:33111992|PMID:33316915|PMID:33576794|PMID:33724713|PMID:33924653|PMID:34335733|PMID:34416374|PMID:3442652|PMID:34426522|PMID:34752165|PMID:34824372|PMID:34837038|PMID:34906470|PMID:34948090|PMID:34997062|PMID:34997822|PMID:35020051|PMID:35186827|PMID:35580552|PMID:35802133|PMID:35982127|PMID:36011334|PMID:36460718|PMID:36597107|PMID:36633841|PMID:36672845|PMID:38927702|PMID:9536098
8738284	Cdh23	cadherin related 23	gene	DOID:0050439	Usher syndrome		ISO	RGD:733851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: USHER Syndrome | ClinVar Annotator: match by term: Usher syndrome | ClinVar Annotator: match by term: Usher's syndrome	PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:15353998|PMID:16679490|PMID:16963483|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18348277|PMID:18429043|PMID:18484607|PMID:19888295|PMID:20613545|PMID:20844544|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22899989|PMID:23794683|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25279224|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25605338|PMID:25741868|PMID:25963016|PMID:26186295|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26467025|PMID:26496030|PMID:26681316|PMID:26763877|PMID:26969326|PMID:27018795|PMID:27068579|PMID:27460420|PMID:27583405|PMID:27743452|PMID:27792758|PMID:28000701|PMID:28383030|PMID:28483220|PMID:28492532|PMID:28847902|PMID:29048421|PMID:29148562|PMID:29287849|PMID:30033219|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30535804|PMID:31152317|PMID:31445392|PMID:31816670|PMID:31850270|PMID:32467589|PMID:32707200|PMID:32747562|PMID:32842620|PMID:32860223|PMID:32864763|PMID:32991204|PMID:33111992|PMID:33316915|PMID:33576794|PMID:33724713|PMID:33796225|PMID:33924653|PMID:34374074|PMID:34593925|PMID:34752165|PMID:34837038|PMID:35020051|PMID:35062939|PMID:35186384|PMID:35186827|PMID:35248088|PMID:35882863|PMID:36568381|PMID:36597107|PMID:36672845|PMID:36979683|PMID:37217689|PMID:38088826|PMID:38374194|PMID:38927702|PMID:39107234|PMID:39271758|PMID:39640791|PMID:9536098
8738284	Cdh23	cadherin related 23	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:733851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness	PMID:17850630|PMID:22443853|PMID:22899989|PMID:23967202|PMID:24164807|PMID:24618850|PMID:24767429|PMID:25279224|PMID:25741868|PMID:25963016|PMID:26264712|PMID:26763877|PMID:26969326|PMID:27583405|PMID:27792758|PMID:28492532|PMID:30367262|PMID:32860223|PMID:34593925|PMID:39107234
8738284	Cdh23	cadherin related 23	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:733851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:11090341|PMID:11138009|PMID:16199547|PMID:21940737|PMID:24033266|PMID:25741868|PMID:27018795|PMID:27792758|PMID:28492532|PMID:30303587|PMID:31445392|PMID:32842620|PMID:35020051|PMID:8894709
8738284	Cdh23	cadherin related 23	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:11138009|PMID:16199547|PMID:21940737|PMID:25741868|PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8738284	Cdh23	cadherin related 23	gene	DOID:0060249	scoliosis		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:0080171	esophageal atresia/tracheoesophageal fistula		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula	PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:0110467	autosomal recessive nonsyndromic deafness 12		ISO	RGD:733851	D	RGD:7240710	20180130	OMIM			
8738284	Cdh23	cadherin related 23	gene	DOID:0110467	autosomal recessive nonsyndromic deafness 12		ISO	RGD:733851	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 12	PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:12910270|PMID:15353998|PMID:15537665|PMID:15660226|PMID:15829536|PMID:16199547|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21174530|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21917145|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23804846|PMID:23967202|PMID:24006325|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24444108|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25333064|PMID:25356970|PMID:25373420|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:26226137|PMID:26264712|PMID:26346818|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26633542|PMID:26763877|PMID:26969326|PMID:27018795|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27583663|PMID:27610647|PMID:27627659|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28000701|PMID:28383030|PMID:28413019|PMID:28483220|PMID:28492532|PMID:28501645|PMID:28847902|PMID:28912962|PMID:29048421|PMID:29148562|PMID:29343940|PMID:29568747|PMID:29889784|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30123251|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30622556|PMID:30718709|PMID:30733538|PMID:30828794|PMID:31054281|PMID:31152317|PMID:31445392|PMID:31541171|PMID:31850270|PMID:31872526|PMID:32238869|PMID:32467589|PMID:32747562|PMID:32842620|PMID:32860223|PMID:32991204|PMID:33576794|PMID:33724713|PMID:33924653|PMID:34265623|PMID:34335733|PMID:34416374|PMID:34824372|PMID:34906470|PMID:34906502|PMID:34948090|PMID:35020051|PMID:35062939|PMID:35186827|PMID:35248088|PMID:35440622|PMID:35580552|PMID:35802133|PMID:36460718|PMID:36597107|PMID:36633841|PMID:36672845|PMID:9536098
8738284	Cdh23	cadherin related 23	gene	DOID:0110467	autosomal recessive nonsyndromic deafness 12		ISO	RGD:733851	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 12	PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:12910270|PMID:15353998|PMID:15537665|PMID:15660226|PMID:15829536|PMID:16199547|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21174530|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21917145|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23804846|PMID:23967202|PMID:24006325|PMID:24033266|PMID:24082139|PMID:24164807|PMID:24416283|PMID:24444108|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25333064|PMID:25356970|PMID:25373420|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:26226137|PMID:26264712|PMID:26346818|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26633542|PMID:26763877|PMID:26969326|PMID:27018795|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27583663|PMID:27610647|PMID:27627659|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28000701|PMID:28383030|PMID:28413019|PMID:28483220|PMID:28492532|PMID:28501645|PMID:28847902|PMID:28912962|PMID:29048421|PMID:29148562|PMID:29343940|PMID:29568747|PMID:29889784|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30123251|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30622556|PMID:30718709|PMID:30733538|PMID:30828794|PMID:30872718|PMID:31054281|PMID:31152317|PMID:31445392|PMID:31541171|PMID:31546658|PMID:31816670|PMID:31850270|PMID:31872526|PMID:31980526|PMID:32238869|PMID:32467589|PMID:32707200|PMID:32747562|PMID:32842620|PMID:32860223|PMID:32991204|PMID:33576794|PMID:33724713|PMID:33924653|PMID:34265623|PMID:34335733|PMID:34416374|PMID:3442652|PMID:34426522|PMID:34824372|PMID:34906470|PMID:34906502|PMID:34948090|PMID:34997062|PMID:35020051|PMID:35062939|PMID:35186827|PMID:35248088|PMID:35440622|PMID:35580552|PMID:35802133|PMID:35982127|PMID:36460718|PMID:36597107|PMID:36633841|PMID:36672845|PMID:38927702|PMID:9536098
8738284	Cdh23	cadherin related 23	gene	DOID:0110467	autosomal recessive nonsyndromic deafness 12		ISO	RGD:733851	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12	PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:12910270|PMID:15353998|PMID:15537665|PMID:15660226|PMID:15829536|PMID:16199547|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21174530|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21917145|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23794683|PMID:23804846|PMID:23967202|PMID:24006325|PMID:24033266|PMID:24082139|PMID:24164807|PMID:24416283|PMID:24444108|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25333064|PMID:25356970|PMID:25373420|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25575603|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:26226137|PMID:26264712|PMID:26346818|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26633542|PMID:26763877|PMID:26969326|PMID:27018795|PMID:2706105|PMID:27068579|PMID:27208204|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27583663|PMID:27610647|PMID:27627659|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28000701|PMID:28383030|PMID:28413019|PMID:28483220|PMID:28492532|PMID:28501645|PMID:28847902|PMID:28902392|PMID:28912962|PMID:29048421|PMID:29148562|PMID:29287849|PMID:29343940|PMID:29568747|PMID:29889784|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30123251|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30622556|PMID:30718709|PMID:30733538|PMID:30828794|PMID:30872718|PMID:31054281|PMID:31152317|PMID:31445392|PMID:31541171|PMID:31546658|PMID:31816670|PMID:31850270|PMID:31872526|PMID:31980526|PMID:32141364|PMID:32238869|PMID:32279305|PMID:32467589|PMID:32485727|PMID:32645618|PMID:32707200|PMID:32747562|PMID:32842620|PMID:32860223|PMID:32991204|PMID:33111992|PMID:33316915|PMID:33576794|PMID:33724713|PMID:33924653|PMID:34265623|PMID:34335733|PMID:34416374|PMID:3442652|PMID:34426522|PMID:34515852|PMID:34744965|PMID:34752165|PMID:34824372|PMID:34906470|PMID:34906502|PMID:34948090|PMID:34997062|PMID:34997822|PMID:35020051|PMID:35062939|PMID:35186827|PMID:35248088|PMID:35440622|PMID:35580552|PMID:35802133|PMID:35982127|PMID:36460718|PMID:36597107|PMID:36633841|PMID:36672845|PMID:38927702|PMID:9536098
8738284	Cdh23	cadherin related 23	gene	DOID:0110467	autosomal recessive nonsyndromic deafness 12		ISO	RGD:733851	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12	PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:12910270|PMID:15353998|PMID:15537665|PMID:15660226|PMID:15829536|PMID:16199547|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21174530|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21917145|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23794683|PMID:23804846|PMID:23967202|PMID:24006325|PMID:24033266|PMID:24082139|PMID:24164807|PMID:24416283|PMID:24444108|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25333064|PMID:25356970|PMID:25373420|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25575603|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:26226137|PMID:26264712|PMID:26346818|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26633542|PMID:26763877|PMID:26969326|PMID:27018795|PMID:2706105|PMID:27068579|PMID:27208204|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27583663|PMID:27610647|PMID:27627659|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28000701|PMID:28383030|PMID:28413019|PMID:28483220|PMID:28492532|PMID:28501645|PMID:28847902|PMID:28902392|PMID:28912962|PMID:29048421|PMID:29148562|PMID:29174094|PMID:29287849|PMID:29343940|PMID:29568747|PMID:29889784|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30123251|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30622556|PMID:30718709|PMID:30733538|PMID:30828794|PMID:30872718|PMID:31054281|PMID:31152317|PMID:31445392|PMID:31541171|PMID:31546658|PMID:31589614|PMID:31816670|PMID:31850270|PMID:31872526|PMID:31980526|PMID:32141364|PMID:32238869|PMID:32279305|PMID:32467589|PMID:32485727|PMID:32645618|PMID:32707200|PMID:32747562|PMID:32842620|PMID:32860223|PMID:32991204|PMID:33111992|PMID:33316915|PMID:33576794|PMID:33724713|PMID:33924653|PMID:34265623|PMID:34335733|PMID:34416374|PMID:3442652|PMID:34426522|PMID:34515852|PMID:34744965|PMID:34752165|PMID:34824372|PMID:34906470|PMID:34906502|PMID:34948090|PMID:34997062|PMID:34997822|PMID:35020051|PMID:35062939|PMID:35186827|PMID:35248088|PMID:35440622|PMID:35580552|PMID:35802133|PMID:35882863|PMID:35982127|PMID:36460718|PMID:36597107|PMID:36633841|PMID:36672845|PMID:37734845|PMID:38374194|PMID:38927702|PMID:9536098
8738284	Cdh23	cadherin related 23	gene	DOID:0110467	autosomal recessive nonsyndromic deafness 12		ISO	RGD:733851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12	PMID:11138009|PMID:12075507|PMID:15829536|PMID:16199547|PMID:16679490|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18348277|PMID:18429043|PMID:18484607|PMID:19888295|PMID:20613545|PMID:20844544|PMID:21436283|PMID:21569298|PMID:21940737|PMID:22135276|PMID:23794683|PMID:23804846|PMID:24033266|PMID:24416283|PMID:24498627|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25575603|PMID:25605338|PMID:25741868|PMID:25963016|PMID:26186295|PMID:26226137|PMID:26399936|PMID:26467025|PMID:26496030|PMID:26969326|PMID:27068579|PMID:27208204|PMID:27583663|PMID:27792758|PMID:28483220|PMID:28492532|PMID:28847902|PMID:29048421|PMID:29148562|PMID:29287849|PMID:30033219|PMID:30245029|PMID:30311386|PMID:30459346|PMID:30535804|PMID:30718709|PMID:31130284|PMID:31152317|PMID:31445392|PMID:31546658|PMID:32467589|PMID:32707200|PMID:32860223|PMID:32991204|PMID:33111992|PMID:33316915|PMID:33576794|PMID:33796225|PMID:33924653|PMID:34374074|PMID:34515852|PMID:34744965|PMID:34752165|PMID:35020051|PMID:35062939|PMID:35186384|PMID:35186827|PMID:35248088|PMID:35802133|PMID:36568381|PMID:36597107|PMID:36633841|PMID:36672845|PMID:38855775|PMID:38927702|PMID:40603303|PMID:9536098
8738284	Cdh23	cadherin related 23	gene	DOID:0110826	Usher syndrome type 1		ISO	RGD:733851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Usher syndrome type 1	PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:15353998|PMID:15660226|PMID:16199547|PMID:16281288|PMID:16679490|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19683999|PMID:19888295|PMID:20052763|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22899989|PMID:23208854|PMID:23451239|PMID:23794683|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24082139|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25356970|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25575603|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:26186295|PMID:26226137|PMID:26264712|PMID:26346818|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26496030|PMID:26763877|PMID:26969326|PMID:27018795|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27573290|PMID:27583405|PMID:27583663|PMID:27610647|PMID:27627659|PMID:27631835|PMID:27743452|PMID:27792758|PMID:28000701|PMID:28383030|PMID:28483220|PMID:28492532|PMID:28501645|PMID:28847902|PMID:28902392|PMID:28912962|PMID:29048421|PMID:29148562|PMID:29343940|PMID:29889784|PMID:29986705|PMID:30033219|PMID:30123251|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30535804|PMID:30622556|PMID:30733538|PMID:30774966|PMID:30828794|PMID:30872718|PMID:31152317|PMID:31231422|PMID:31445392|PMID:31541171|PMID:31546658|PMID:31816670|PMID:31850270|PMID:31872526|PMID:31980526|PMID:32141364|PMID:32279305|PMID:32467589|PMID:32483926|PMID:32485727|PMID:32531858|PMID:32645618|PMID:32707200|PMID:32747562|PMID:32860223|PMID:32991204|PMID:33089500|PMID:33111992|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33316915|PMID:33576794|PMID:33724713|PMID:33796225|PMID:33879512|PMID:33924653|PMID:34171171|PMID:34374074|PMID:34403091|PMID:34416374|PMID:34593925|PMID:34599366|PMID:34824372|PMID:34837038|PMID:34997062|PMID:34997822|PMID:35020051|PMID:35062939|PMID:35186384|PMID:35186827|PMID:35248088|PMID:35440622|PMID:35982127|PMID:36011334|PMID:36460718|PMID:36468022|PMID:36568381|PMID:36597107|PMID:36672845|PMID:36979683|PMID:37217689|PMID:37466950|PMID:37895187|PMID:38088826|PMID:38374194|PMID:38720048|PMID:38790200|PMID:38927702|PMID:39107234|PMID:39271758|PMID:39462066|PMID:39467922|PMID:39596651|PMID:40603303|PMID:40744884|PMID:9536098
8738284	Cdh23	cadherin related 23	gene	DOID:0110827	Usher syndrome type 2		ISO	RGD:733851	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Usher syndrome type 2	PMID:25741868|PMID:32531858
8738284	Cdh23	cadherin related 23	gene	DOID:0110829	retinitis pigmentosa-deafness syndrome		ISO	RGD:733851	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome	PMID:18429043|PMID:24033266|PMID:25741868|PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:0110831	Usher syndrome type 1D		ISO	RGD:733851	D	RGD:7240710	20180130	OMIM			
8738284	Cdh23	cadherin related 23	gene	DOID:0110831	Usher syndrome type 1D		ISO	RGD:733851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D	PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:15353998|PMID:16199547|PMID:16679490|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18348277|PMID:18429043|PMID:18484607|PMID:19888295|PMID:20613545|PMID:20844544|PMID:21436283|PMID:21569298|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22899989|PMID:23591405|PMID:23794683|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25279224|PMID:25373420|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25575603|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25963016|PMID:26186295|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26496030|PMID:26561413|PMID:26763877|PMID:26969326|PMID:27018795|PMID:27068579|PMID:27208204|PMID:27460420|PMID:27583405|PMID:27792758|PMID:28000701|PMID:28483220|PMID:28492532|PMID:28847902|PMID:29048421|PMID:29148562|PMID:29287849|PMID:30033219|PMID:30123251|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30535804|PMID:30718709|PMID:31130284|PMID:31152317|PMID:31445392|PMID:31546658|PMID:31816670|PMID:32238869|PMID:32467589|PMID:32707200|PMID:32842620|PMID:32991204|PMID:33095980|PMID:33111992|PMID:33316915|PMID:33576794|PMID:33724713|PMID:33796225|PMID:33924653|PMID:34265623|PMID:34374074|PMID:34593925|PMID:34599366|PMID:34744965|PMID:34752165|PMID:34906502|PMID:35020051|PMID:35062939|PMID:35186384|PMID:35186827|PMID:35248088|PMID:35440622|PMID:36568381|PMID:36597107|PMID:36672845|PMID:38465142|PMID:38927702|PMID:39271758|PMID:40603303|PMID:9536098
8738284	Cdh23	cadherin related 23	gene	DOID:0110838	Usher syndrome type 2A		ISO	RGD:733851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Usher syndrome type 2A	PMID:12075507|PMID:12522556|PMID:15353998|PMID:21940737|PMID:24033266|PMID:25741868|PMID:27460420|PMID:28000701|PMID:28492532|PMID:31816670|PMID:33724713|PMID:39271758
8738284	Cdh23	cadherin related 23	gene	DOID:0111330	combined saposin deficiency		ISO	RGD:11665230|RGD:11665295|RGD:11665729|RGD:8608936|RGD:9689489	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency	PMID:24033266|PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:0111330	combined saposin deficiency		ISO	RGD:11665249|RGD:11665255|RGD:11665256|RGD:11665514|RGD:11665551|RGD:11665616|RGD:11665672|RGD:401964599	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency	PMID:25741868
8738284	Cdh23	cadherin related 23	gene	DOID:0111330	combined saposin deficiency		ISO	RGD:8608933|RGD:8608936|RGD:8608942|RGD:9689489|RGD:9689971	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency	PMID:24033266|PMID:25741868|PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:0111330	combined saposin deficiency		ISO	RGD:8689243	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency	PMID:25991456|PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:0112008	pituitary adenoma 5		ISO	RGD:733851	D	RGD:7240710	20190315	OMIM			
8738284	Cdh23	cadherin related 23	gene	DOID:0112008	pituitary adenoma 5		ISO	RGD:733851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types	PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:15353998|PMID:16199547|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18484607|PMID:20613545|PMID:21436283|PMID:21738395|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22899989|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25279224|PMID:25373420|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25575603|PMID:25605338|PMID:25741868|PMID:25963016|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26467025|PMID:26763877|PMID:26969326|PMID:27018795|PMID:27068579|PMID:27208204|PMID:27460420|PMID:27583405|PMID:27583663|PMID:27792758|PMID:28000701|PMID:28483220|PMID:28492532|PMID:28847902|PMID:29048421|PMID:29148562|PMID:29287849|PMID:29625443|PMID:30033219|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30535804|PMID:30718709|PMID:30774966|PMID:31130284|PMID:31138263|PMID:31152317|PMID:31445392|PMID:31546658|PMID:31755791|PMID:31816670|PMID:32238869|PMID:32467589|PMID:32842620|PMID:32860223|PMID:32991204|PMID:33111992|PMID:33316915|PMID:33576794|PMID:33724713|PMID:33924653|PMID:34593925|PMID:34744965|PMID:34752165|PMID:34837038|PMID:35020051|PMID:35062939|PMID:35186827|PMID:35248088|PMID:35651951|PMID:35802133|PMID:35882863|PMID:36468022|PMID:36568381|PMID:36597107|PMID:36633841|PMID:36672845|PMID:36979683|PMID:37217689|PMID:38088826|PMID:38855775|PMID:39107234|PMID:39271758|PMID:39640791|PMID:40300787|PMID:40603303|PMID:41359850|PMID:9536098
8738284	Cdh23	cadherin related 23	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:11138009|PMID:21940737|PMID:25741868|PMID:28492532|PMID:33205915
8738284	Cdh23	cadherin related 23	gene	DOID:10316	pneumoconiosis		ISO	RGD:733851	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25445010
8738284	Cdh23	cadherin related 23	gene	DOID:10485	esophageal atresia		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:10534	stomach cancer		ISO	RGD:733851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:24033266|PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:28492532|PMID:30718709
8738284	Cdh23	cadherin related 23	gene	DOID:1059	intellectual disability		ISO	RGD:733851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8738284	Cdh23	cadherin related 23	gene	DOID:11830	myopia		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:12849	autistic disorder		ISO	RGD:733851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:1324	lung cancer		ISO	RGD:733851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:24033266|PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:13620	patent foramen ovale		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:14679	VACTERL association		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: VATER association	PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:1596	depressive disorder		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:1826	epilepsy		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:1909	melanoma		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8738284	Cdh23	cadherin related 23	gene	DOID:2030	anxiety disorder		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733851	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:3275	thymoma		ISO	RGD:733851	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Thymoma	
8738284	Cdh23	cadherin related 23	gene	DOID:4362	cervical cancer		ISO	RGD:733851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8738284	Cdh23	cadherin related 23	gene	DOID:5041	esophageal cancer		ISO	RGD:733851	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8738284	Cdh23	cadherin related 23	gene	DOID:540	strabismus		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8738284	Cdh23	cadherin related 23	gene	DOID:5679	retinal disease		ISO	RGD:733851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:11138009|PMID:16199547|PMID:21940737|PMID:25741868|PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:5723	optic atrophy		ISO	RGD:733851	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:24033266|PMID:25741868|PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8738284	Cdh23	cadherin related 23	gene	DOID:630	genetic disease		ISO	RGD:733851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11090341|PMID:11138009|PMID:12075507|PMID:18273900|PMID:18484607|PMID:19888295|PMID:20613545|PMID:21940737|PMID:22135276|PMID:23804846|PMID:24033266|PMID:24416283|PMID:25468891|PMID:25472526|PMID:25741868|PMID:26186295|PMID:26399936|PMID:26467025|PMID:26496030|PMID:28492532|PMID:29148562|PMID:30245029|PMID:30311386|PMID:32991204|PMID:33796225|PMID:34374074|PMID:34837038|PMID:35020051|PMID:35062939|PMID:35186384|PMID:35186827|PMID:35248088|PMID:38219857|PMID:38927702|PMID:39017633
8738284	Cdh23	cadherin related 23	gene	DOID:8501	fundus dystrophy		ISO	RGD:733851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11138009|PMID:12075507|PMID:12522556|PMID:15353998|PMID:16199547|PMID:18273900|PMID:18484607|PMID:20613545|PMID:21117948|PMID:21940737|PMID:22135276|PMID:24033266|PMID:25468891|PMID:25472526|PMID:25741868|PMID:26399936|PMID:26467025|PMID:26969326|PMID:27208204|PMID:27460420|PMID:28000701|PMID:28492532|PMID:29048421|PMID:30311386|PMID:30718709|PMID:31130284|PMID:31546658|PMID:31589614|PMID:31816670|PMID:32707200|PMID:32864763|PMID:32991204|PMID:33111992|PMID:33724713|PMID:34426522|PMID:35020051|PMID:35186827|PMID:36468022|PMID:36672845|PMID:38927702|PMID:39271758
8738284	Cdh23	cadherin related 23	gene	DOID:9000307	Presbycusis		ISO	RGD:733852	D	RGD:9068941	20200609	RGD			PMID:12910270|REF_RGD_ID:737781
8738284	Cdh23	cadherin related 23	gene	DOID:9000307	Presbycusis	no_association	ISO	RGD:733851	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:g.72996763C>T (rs7087735) (human)	PMID:22581638|REF_RGD_ID:8662287
8738284	Cdh23	cadherin related 23	gene	DOID:9000343	Vision Disorders		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:21940737|PMID:24033266|PMID:25231367|PMID:25404053|PMID:25425308|PMID:25741868|PMID:26969326|PMID:28492532|PMID:33576794
8738284	Cdh23	cadherin related 23	gene	DOID:9001510	Funnel Chest		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:9001733	Tinnitus		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:733851	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs1227049, rs3802711 (human)	PMID:16598924|REF_RGD_ID:8662283
8738284	Cdh23	cadherin related 23	gene	DOID:9002910	Hearing Loss, Noise-Induced	no_association	ISO	RGD:733851	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs1227049, rs1227051 (human)	PMID:16598924|REF_RGD_ID:8662283
8738284	Cdh23	cadherin related 23	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
8738284	Cdh23	cadherin related 23	gene	DOID:9004538	Hearing Loss		ISO	RGD:733851	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:18429043|PMID:21117948|PMID:24033266|PMID:25404053|PMID:25741868|PMID:27068579|PMID:28492532|PMID:30245029|PMID:30311386
8738284	Cdh23	cadherin related 23	gene	DOID:9004538	Hearing Loss		ISO	RGD:733851	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:18429043|PMID:21117948|PMID:24033266|PMID:25404053|PMID:25741868|PMID:26467025|PMID:27068579|PMID:28492532|PMID:30245029|PMID:30311386|PMID:31445392|PMID:36672845
8738284	Cdh23	cadherin related 23	gene	DOID:9004538	Hearing Loss		ISO	RGD:733851	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:15353998|PMID:16199547|PMID:16679490|PMID:17407589|PMID:18429043|PMID:19683999|PMID:20513143|PMID:20613545|PMID:21117948|PMID:21436283|PMID:21569298|PMID:21940737|PMID:22899989|PMID:23794683|PMID:23804846|PMID:24033266|PMID:24498627|PMID:25404053|PMID:25741868|PMID:25963016|PMID:26467025|PMID:27018795|PMID:27068579|PMID:27573290|PMID:27792758|PMID:28492532|PMID:29148562|PMID:30245029|PMID:30303587|PMID:30311386|PMID:31445392|PMID:32485727|PMID:32645618|PMID:32842620|PMID:33205915|PMID:35020051|PMID:36672845|PMID:8894709
8738284	Cdh23	cadherin related 23	gene	DOID:9004538	Hearing Loss		ISO	RGD:733851	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing impairment | ClinVar Annotator: match by term: hearing loss	PMID:11090341|PMID:11138009|PMID:16199547|PMID:17850630|PMID:18429043|PMID:19888295|PMID:21940737|PMID:22443853|PMID:22899989|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24618850|PMID:24767429|PMID:25231367|PMID:25279224|PMID:25373420|PMID:25404053|PMID:25425308|PMID:25741868|PMID:25963016|PMID:26264712|PMID:26763877|PMID:26969326|PMID:27018795|PMID:27068579|PMID:27583405|PMID:27583663|PMID:27792758|PMID:28492532|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:31445392|PMID:32238869|PMID:32747562|PMID:32842620|PMID:32860223|PMID:33576794|PMID:34593925|PMID:35020051|PMID:35440622|PMID:36672845|PMID:8894709
8738284	Cdh23	cadherin related 23	gene	DOID:9004538	Hearing Loss		ISO	RGD:733851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing impairment | ClinVar Annotator: match by term: hearing loss	PMID:11090341|PMID:11138009|PMID:16199547|PMID:17850630|PMID:19888295|PMID:21940737|PMID:22443853|PMID:22899989|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24618850|PMID:24767429|PMID:25231367|PMID:25279224|PMID:25373420|PMID:25404053|PMID:25425308|PMID:25741868|PMID:25963016|PMID:26264712|PMID:26763877|PMID:26969326|PMID:27018795|PMID:27068579|PMID:27583405|PMID:27583663|PMID:27792758|PMID:28492532|PMID:29048421|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:31445392|PMID:32238869|PMID:32747562|PMID:32842620|PMID:32860223|PMID:33111992|PMID:33576794|PMID:34593925|PMID:35020051|PMID:35440622|PMID:36672845|PMID:8894709
8738284	Cdh23	cadherin related 23	gene	DOID:9004866	Ataxia		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
8738284	Cdh23	cadherin related 23	gene	DOID:9006731	Hyperlactatemia		ISO	RGD:733851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: hyperlactatemia	PMID:25741868|PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25741868
8738284	Cdh23	cadherin related 23	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733851	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:24033266|PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:9007661	Dwarfism		ISO	RGD:733851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:9008023	Memory Disorders		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:18429043|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386
8738284	Cdh23	cadherin related 23	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8738284	Cdh23	cadherin related 23	gene	DOID:9008681	Deafness		ISO	RGD:733851	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:30303587
8738284	Cdh23	cadherin related 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:12075507|PMID:15660226|PMID:18429043|PMID:21569298|PMID:23591405|PMID:23757202|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733851	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738284	Cdh23	cadherin related 23	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8738284	Cdh23	cadherin related 23	gene	DOID:9256	colorectal cancer		ISO	RGD:733851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:24033266|PMID:25741868|PMID:26969326|PMID:28492532|PMID:29048421|PMID:30311386|PMID:33111992|PMID:36672845
8738284	Cdh23	cadherin related 23	gene	DOID:9834	hyperopia		ISO	RGD:733851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
8738284	Cdh23	cadherin related 23	gene	DOID:9849	Meniere's disease		ISO	RGD:733851	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Meniere disease	PMID:25741868|PMID:28492532
8738375	Arl5a	ARF like GTPase 5A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8738375	Arl5a	ARF like GTPase 5A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8738375	Arl5a	ARF like GTPase 5A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738375	Arl5a	ARF like GTPase 5A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8738375	Arl5a	ARF like GTPase 5A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738388	Anks4b	ankyrin repeat and sterile alpha motif domain containing 4B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738388	Anks4b	ankyrin repeat and sterile alpha motif domain containing 4B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8738394	Tmem18	transmembrane protein 18	gene	DOID:3083	chronic obstructive pulmonary disease	disease_progression	ISO	RGD:1344776	D	RGD:9068941	20260319	RGD		DNA:SNP: :rs6548238	PMID:27118560|REF_RGD_ID:640476655
8738394	Tmem18	transmembrane protein 18	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8738394	Tmem18	transmembrane protein 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1344776	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8738394	Tmem18	transmembrane protein 18	gene	DOID:552	pneumonia	susceptibility	ISO	RGD:1344776	D	RGD:9068941	20260319	RGD		associated with chronic obstructive pulmonary disease; DNA:SNP: :rs6548238	PMID:27118560|REF_RGD_ID:640476655
8738394	Tmem18	transmembrane protein 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738394	Tmem18	transmembrane protein 18	gene	DOID:9002209	Skull Fractures	ameliorates	ISO	RGD:1359389	D	RGD:9068941	20260321	RGD			PMID:31288024|REF_RGD_ID:640478526
8738394	Tmem18	transmembrane protein 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738394	Tmem18	transmembrane protein 18	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1344776	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
8738394	Tmem18	transmembrane protein 18	gene	DOID:9970	obesity		ISO	RGD:1344776	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19079261
8738394	Tmem18	transmembrane protein 18	gene	DOID:9970	obesity		ISO	RGD:1359389	D	RGD:9068941	20260321	RGD		mRNA:decreased expression:liver,soleus muscle	PMID:21779089|REF_RGD_ID:6484210
8738394	Tmem18	transmembrane protein 18	gene	DOID:9970	obesity	susceptibility	ISO	RGD:1344776	D	RGD:9068941	20260319	RGD		DNA:SNP: :rs13021737	PMID:28957450|REF_RGD_ID:640476654
8738394	Tmem18	transmembrane protein 18	gene	DOID:9970	obesity	susceptibility	ISO	RGD:1344776	D	RGD:9068941	20260321	RGD		DNA:SNPs: : rs6548238, rs4854344	PMID:21952719|REF_RGD_ID:640478530
8738394	Tmem18	transmembrane protein 18	gene	DOID:9970	obesity	susceptibility	ISO	RGD:1344776	D	RGD:9068941	20260321	RGD		DNA:SNPs: : rs6548238, rs7561317	PMID:20380707|REF_RGD_ID:640478531
8738402	Samd11	sterile alpha motif domain containing 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8738402	Samd11	sterile alpha motif domain containing 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8738402	Samd11	sterile alpha motif domain containing 11	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:34906470
8738402	Samd11	sterile alpha motif domain containing 11	gene	DOID:1115	sarcoma		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8738402	Samd11	sterile alpha motif domain containing 11	gene	DOID:1324	lung cancer		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8738402	Samd11	sterile alpha motif domain containing 11	gene	DOID:2394	ovarian cancer		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8738402	Samd11	sterile alpha motif domain containing 11	gene	DOID:5723	optic atrophy		ISO	RGD:1353453	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8738402	Samd11	sterile alpha motif domain containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8738402	Samd11	sterile alpha motif domain containing 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8738402	Samd11	sterile alpha motif domain containing 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8738402	Samd11	sterile alpha motif domain containing 11	gene	DOID:8501	fundus dystrophy		ISO	RGD:1353453	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
8738402	Samd11	sterile alpha motif domain containing 11	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1353453	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8738402	Samd11	sterile alpha motif domain containing 11	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
8738402	Samd11	sterile alpha motif domain containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8738402	Samd11	sterile alpha motif domain containing 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8738421	Resp18	regulated endocrine specific protein 18	gene	DOID:0050855	renal fibrosis		ISO	RGD:3555	D	RGD:9068941	20200609	RGD			PMID:29570433|REF_RGD_ID:14348960
8738421	Resp18	regulated endocrine specific protein 18	gene	DOID:10763	hypertension		ISO	RGD:3555	D	RGD:9068941	20200609	RGD			PMID:29570433|REF_RGD_ID:14348960
8738421	Resp18	regulated endocrine specific protein 18	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:2305853	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
8738436	Map3k4	mitogen-activated protein kinase kinase kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8738436	Map3k4	mitogen-activated protein kinase kinase kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8738436	Map3k4	mitogen-activated protein kinase kinase kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8738436	Map3k4	mitogen-activated protein kinase kinase kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8738436	Map3k4	mitogen-activated protein kinase kinase kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8738436	Map3k4	mitogen-activated protein kinase kinase kinase 4	gene	DOID:1909	melanoma		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8738436	Map3k4	mitogen-activated protein kinase kinase kinase 4	gene	DOID:2154	nephroblastoma		ISO	RGD:1322520	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
8738436	Map3k4	mitogen-activated protein kinase kinase kinase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8738436	Map3k4	mitogen-activated protein kinase kinase kinase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8738436	Map3k4	mitogen-activated protein kinase kinase kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738436	Map3k4	mitogen-activated protein kinase kinase kinase 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8738436	Map3k4	mitogen-activated protein kinase kinase kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8738436	Map3k4	mitogen-activated protein kinase kinase kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8738436	Map3k4	mitogen-activated protein kinase kinase kinase 4	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1322520	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23104009
8738436	Map3k4	mitogen-activated protein kinase kinase kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738436	Map3k4	mitogen-activated protein kinase kinase kinase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8738478	Hmgn4	high mobility group nucleosomal binding domain 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1344098	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8738494	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8738494	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319770	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8738494	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:0080600	COVID-19		ISO	RGD:1319770	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8738494	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:1115	sarcoma		ISO	RGD:1319770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8738494	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1319770	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868
8738494	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8738494	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319770	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8738494	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8738494	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738494	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8738494	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1319770	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Progressive spastic paraparesis	PMID:28891236
8738494	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8738533	Blvrb	biliverdin reductase B	gene	DOID:1324	lung cancer		ISO	RGD:1314490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8738533	Blvrb	biliverdin reductase B	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1314490	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
8738533	Blvrb	biliverdin reductase B	gene	DOID:4362	cervical cancer		ISO	RGD:1314490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8738533	Blvrb	biliverdin reductase B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314490	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8738533	Blvrb	biliverdin reductase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738533	Blvrb	biliverdin reductase B	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1314490	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19424620
8738533	Blvrb	biliverdin reductase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8738533	Blvrb	biliverdin reductase B	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1314490	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8738533	Blvrb	biliverdin reductase B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738551	Znf516-dt	ZNF516 divergent transcript	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:7207006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8738558	Tex9	testis expressed 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8738558	Tex9	testis expressed 9	gene	DOID:10534	stomach cancer		ISO	RGD:1606392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8738558	Tex9	testis expressed 9	gene	DOID:1115	sarcoma		ISO	RGD:1606392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8738558	Tex9	testis expressed 9	gene	DOID:1324	lung cancer		ISO	RGD:1606392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8738558	Tex9	testis expressed 9	gene	DOID:4362	cervical cancer		ISO	RGD:1606392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8738558	Tex9	testis expressed 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8738558	Tex9	testis expressed 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8738558	Tex9	testis expressed 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1606392	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8738558	Tex9	testis expressed 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738558	Tex9	testis expressed 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8738558	Tex9	testis expressed 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738558	Tex9	testis expressed 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8738572	Vps9d1	VPS9 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8738572	Vps9d1	VPS9 domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8738572	Vps9d1	VPS9 domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1352238	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8738572	Vps9d1	VPS9 domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352238	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8738572	Vps9d1	VPS9 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738572	Vps9d1	VPS9 domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1352238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8738572	Vps9d1	VPS9 domain containing 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8738572	Vps9d1	VPS9 domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738591	Gpr137	G protein-coupled receptor 137	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8738591	Gpr137	G protein-coupled receptor 137	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8738591	Gpr137	G protein-coupled receptor 137	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8738591	Gpr137	G protein-coupled receptor 137	gene	DOID:1909	melanoma		ISO	RGD:1604608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8738591	Gpr137	G protein-coupled receptor 137	gene	DOID:3070	high grade glioma		ISO	RGD:1604608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8738591	Gpr137	G protein-coupled receptor 137	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8738591	Gpr137	G protein-coupled receptor 137	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738614	Tmem37	transmembrane protein 37	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8738614	Tmem37	transmembrane protein 37	gene	DOID:305	carcinoma		ISO	RGD:1606154	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21489049
8738614	Tmem37	transmembrane protein 37	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738614	Tmem37	transmembrane protein 37	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1606154	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21489049
8738626	Arhgap26	Rho GTPase activating protein 26	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8738626	Arhgap26	Rho GTPase activating protein 26	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1322105	D	RGD:7240710	20180130	OMIM			
8738626	Arhgap26	Rho GTPase activating protein 26	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1322105	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia	
8738626	Arhgap26	Rho GTPase activating protein 26	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8738626	Arhgap26	Rho GTPase activating protein 26	gene	DOID:0081082	acute myelomonocytic leukemia		ISO	RGD:1322105	D	RGD:9068941	20200609	RGD		juvenile myelomonocytic leukemia, OMIM:607785    translocation t(5;11)(q31;q23) fusing ARHGAP26 to MLL in one allele and point mutation A1255G/Asn417Ser or one of two insertions in second allele	PMID:10908648|REF_RGD_ID:1599311
8738626	Arhgap26	Rho GTPase activating protein 26	gene	DOID:10534	stomach cancer		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8738626	Arhgap26	Rho GTPase activating protein 26	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8738626	Arhgap26	Rho GTPase activating protein 26	gene	DOID:1115	sarcoma		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8738626	Arhgap26	Rho GTPase activating protein 26	gene	DOID:1909	melanoma		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8738626	Arhgap26	Rho GTPase activating protein 26	gene	DOID:4362	cervical cancer		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8738626	Arhgap26	Rho GTPase activating protein 26	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8738626	Arhgap26	Rho GTPase activating protein 26	gene	DOID:5041	esophageal cancer		ISO	RGD:1322105	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8738626	Arhgap26	Rho GTPase activating protein 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738626	Arhgap26	Rho GTPase activating protein 26	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8738626	Arhgap26	Rho GTPase activating protein 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8738626	Arhgap26	Rho GTPase activating protein 26	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738626	Arhgap26	Rho GTPase activating protein 26	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8738656	Drap1	DR1 associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8738656	Drap1	DR1 associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318268	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8738656	Drap1	DR1 associated protein 1	gene	DOID:1909	melanoma		ISO	RGD:1318268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
8738656	Drap1	DR1 associated protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8738656	Drap1	DR1 associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738656	Drap1	DR1 associated protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8738656	Drap1	DR1 associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8738667	Mtmr4	myotubularin related protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8738667	Mtmr4	myotubularin related protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8738667	Mtmr4	myotubularin related protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1321134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8738667	Mtmr4	myotubularin related protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1321134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8738667	Mtmr4	myotubularin related protein 4	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1321134	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
8738667	Mtmr4	myotubularin related protein 4	gene	DOID:3275	thymoma		ISO	RGD:1321134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8738667	Mtmr4	myotubularin related protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1321134	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8738667	Mtmr4	myotubularin related protein 4	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
8738667	Mtmr4	myotubularin related protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738667	Mtmr4	myotubularin related protein 4	gene	DOID:767	muscular atrophy		ISO	RGD:1310306	D	RGD:9068941	20200609	RGD		protein:decreased expression:gastrocnemius	PMID:19125695|REF_RGD_ID:7242174
8738667	Mtmr4	myotubularin related protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738700	Cela1	chymotrypsin like elastase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8738700	Cela1	chymotrypsin like elastase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8738700	Cela1	chymotrypsin like elastase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736392	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980|PMID:25380136
8738700	Cela1	chymotrypsin like elastase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8738700	Cela1	chymotrypsin like elastase 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736392	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8738700	Cela1	chymotrypsin like elastase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738712	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8738712	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:0050554	X-linked sideroblastic anemia with ataxia		ISO	RGD:1351480	D	RGD:7240710	20180130	OMIM			
8738712	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:0050554	X-linked sideroblastic anemia with ataxia		ISO	RGD:1351480	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ABCB7-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, X-LINKED 6, WITH OR WITHOUT SIDEROBLASTIC ANEMIA | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia	PMID:10196363|PMID:16467350|PMID:17576681|PMID:22398176|PMID:25741868|PMID:28492532|PMID:34354969|PMID:9536098
8738712	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:0050554	X-linked sideroblastic anemia with ataxia	susceptibility	ISO	RGD:1351480	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.I400M (human)	PMID:10196363|REF_RGD_ID:1598600
8738712	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:0070113	Niemann-Pick disease type C1		ISO	RGD:1351480	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM	PMID:10196363
8738712	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8738712	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:3070	high grade glioma		ISO	RGD:1351480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8738712	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1351480	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8738712	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738712	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8738712	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:630	genetic disease		ISO	RGD:1351480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8738712	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1351480	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868|PMID:28492532
8738712	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:8955	sideroblastic anemia		ISO	RGD:1351480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16892088|PMID:18637800
8738712	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:8955	sideroblastic anemia		ISO	RGD:1351480	D	RGD:9068941	20200609	RGD			PMID:18398482|REF_RGD_ID:11038732
8738712	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:9004866	Ataxia		ISO	RGD:1351480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16892088
8738712	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8738712	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:9007661	Dwarfism		ISO	RGD:1351480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:26242992
8738712	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738750	Acd	ACD shelterin complex subunit and telomerase recruitment factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8738750	Acd	ACD shelterin complex subunit and telomerase recruitment factor	gene	DOID:0070023	autosomal dominant dyskeratosis congenita 6		ISO	RGD:1351362	D	RGD:7240710	20180130	OMIM			
8738750	Acd	ACD shelterin complex subunit and telomerase recruitment factor	gene	DOID:0070023	autosomal dominant dyskeratosis congenita 6		ISO	RGD:1351362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ACD-related condition | ClinVar Annotator: match by term: ACD-related short telomere syndrome | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6	PMID:16199547|PMID:17576681|PMID:25205116|PMID:25233904|PMID:25505254|PMID:25741868|PMID:27807141|PMID:28492532|PMID:29843741|PMID:29891727|PMID:31515401|PMID:32191290|PMID:33822766|PMID:38688277|PMID:9536098
8738750	Acd	ACD shelterin complex subunit and telomerase recruitment factor	gene	DOID:11830	myopia		ISO	RGD:1351362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8738750	Acd	ACD shelterin complex subunit and telomerase recruitment factor	gene	DOID:1909	melanoma		ISO	RGD:1351362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
8738750	Acd	ACD shelterin complex subunit and telomerase recruitment factor	gene	DOID:3459	breast carcinoma		ISO	RGD:1351362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:28492532
8738750	Acd	ACD shelterin complex subunit and telomerase recruitment factor	gene	DOID:4362	cervical cancer		ISO	RGD:1351362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8738750	Acd	ACD shelterin complex subunit and telomerase recruitment factor	gene	DOID:480	movement disease		ISO	RGD:1351362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
8738750	Acd	ACD shelterin complex subunit and telomerase recruitment factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1351362	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8738750	Acd	ACD shelterin complex subunit and telomerase recruitment factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738750	Acd	ACD shelterin complex subunit and telomerase recruitment factor	gene	DOID:630	genetic disease		ISO	RGD:1351362	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29843741|PMID:30064976|PMID:31515401|PMID:9536098
8738750	Acd	ACD shelterin complex subunit and telomerase recruitment factor	gene	DOID:630	genetic disease		ISO	RGD:1351362	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8738750	Acd	ACD shelterin complex subunit and telomerase recruitment factor	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1351362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
8738750	Acd	ACD shelterin complex subunit and telomerase recruitment factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8738750	Acd	ACD shelterin complex subunit and telomerase recruitment factor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1351362	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868|PMID:28492532
8738750	Acd	ACD shelterin complex subunit and telomerase recruitment factor	gene	DOID:9008958	Autosomal Recessive Dyskeratosis Congenita 7		ISO	RGD:1351362	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 7	PMID:25205116|PMID:25233904|PMID:25741868|PMID:27807141|PMID:28492532|PMID:31515401|PMID:33822766
8738750	Acd	ACD shelterin complex subunit and telomerase recruitment factor	gene	DOID:9834	hyperopia		ISO	RGD:1351362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
8738765	Txnl4a	thioredoxin like 4A	gene	DOID:0080695	Burn-McKeown syndrome		ISO	RGD:1347193	D	RGD:7240710	20180130	OMIM			
8738765	Txnl4a	thioredoxin like 4A	gene	DOID:0080695	Burn-McKeown syndrome		ISO	RGD:1347193	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BURN-MCKEOWN SYNDROME | ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: Burn-Mckeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition	PMID:25434003|PMID:25741868|PMID:32735620
8738765	Txnl4a	thioredoxin like 4A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347193	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8738765	Txnl4a	thioredoxin like 4A	gene	DOID:1324	lung cancer		ISO	RGD:1347193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
8738765	Txnl4a	thioredoxin like 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738765	Txnl4a	thioredoxin like 4A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8738765	Txnl4a	thioredoxin like 4A	gene	DOID:630	genetic disease		ISO	RGD:1347193	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8738765	Txnl4a	thioredoxin like 4A	gene	DOID:9001156	Oculootofacial Dysplasia		ISO	RGD:1347193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA	PMID:25434003|PMID:25741868|PMID:32735620
8738783	Npnt	nephronectin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8738783	Npnt	nephronectin	gene	DOID:0080200	bilateral renal aplasia		ISO	RGD:1614982	D	RGD:9068941	20220825	MouseDO			
8738783	Npnt	nephronectin	gene	DOID:10534	stomach cancer		ISO	RGD:1604498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8738783	Npnt	nephronectin	gene	DOID:1115	sarcoma		ISO	RGD:1604498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8738783	Npnt	nephronectin	gene	DOID:14766	renal agenesis		ISO	RGD:1604498	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Bilateral renal agenesis	PMID:25741868
8738783	Npnt	nephronectin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8738783	Npnt	nephronectin	gene	DOID:3275	thymoma		ISO	RGD:1604498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8738783	Npnt	nephronectin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8738783	Npnt	nephronectin	gene	DOID:4362	cervical cancer		ISO	RGD:1604498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8738783	Npnt	nephronectin	gene	DOID:5041	esophageal cancer		ISO	RGD:1604498	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8738783	Npnt	nephronectin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738783	Npnt	nephronectin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8738783	Npnt	nephronectin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738783	Npnt	nephronectin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8738804	Igf1	insulin like growth factor 1	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum (rat)	PMID:1718729|REF_RGD_ID:12910128
8738804	Igf1	insulin like growth factor 1	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:cerebellum (rat)	PMID:16909201|REF_RGD_ID:12904886
8738804	Igf1	insulin like growth factor 1	gene	DOID:0050827	rheumatic heart disease		ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:16406300|REF_RGD_ID:1582623
8738804	Igf1	insulin like growth factor 1	gene	DOID:0051061	stroke		ISO	RGD:2868	D	RGD:9068941	20200609	RGD			PMID:15567334|REF_RGD_ID:1598413
8738804	Igf1	insulin like growth factor 1	gene	DOID:0051061	stroke	severity	ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:16882751|REF_RGD_ID:1598423
8738804	Igf1	insulin like growth factor 1	gene	DOID:0060180	colitis		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24782617
8738804	Igf1	insulin like growth factor 1	gene	DOID:0080038	pycnodysostosis		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		associated with Dwarfism;	PMID:11474477|REF_RGD_ID:8548826
8738804	Igf1	insulin like growth factor 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	susceptibility	ISO	RGD:2868	D	RGD:9068941	20200609	RGD		associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat)	PMID:24275070|REF_RGD_ID:12904726
8738804	Igf1	insulin like growth factor 1	gene	DOID:0080539	PEHO syndrome		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebrospinal fluid:	PMID:11701291|REF_RGD_ID:8548849
8738804	Igf1	insulin like growth factor 1	gene	DOID:0080552	congenital disorder of glycosylation Ia		ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:19207313|REF_RGD_ID:12910858
8738804	Igf1	insulin like growth factor 1	gene	DOID:0081120	Graves ophthalmopathy		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression,increased excretion:orbital tissue:	PMID:22159761|REF_RGD_ID:8548854
8738804	Igf1	insulin like growth factor 1	gene	DOID:10124	corneal disease		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12824234
8738804	Igf1	insulin like growth factor 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10765	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus:	PMID:23740209|REF_RGD_ID:10045852
8738804	Igf1	insulin like growth factor 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15750215
8738804	Igf1	insulin like growth factor 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:altered expression:plasma,cerebral spinal fluid:	PMID:24301648|REF_RGD_ID:10045853
8738804	Igf1	insulin like growth factor 1	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:10765	D	RGD:9068941	20200609	RGD		protein:altered expression:plasma,cerebral spinal fluid:	PMID:24301648|REF_RGD_ID:10045853
8738804	Igf1	insulin like growth factor 1	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:24054991|REF_RGD_ID:10045860
8738804	Igf1	insulin like growth factor 1	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:70506	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron: rs972936(human)	PMID:23089282|REF_RGD_ID:10045854
8738804	Igf1	insulin like growth factor 1	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:10399774|REF_RGD_ID:10402576
8738804	Igf1	insulin like growth factor 1	gene	DOID:10763	hypertension		ISO	RGD:2868	D	RGD:9068941	20200609	RGD			PMID:15996002|REF_RGD_ID:1580474
8738804	Igf1	insulin like growth factor 1	gene	DOID:10763	hypertension		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		mRNA:increased expression:aorta (rat)	PMID:8418983|REF_RGD_ID:12904968
8738804	Igf1	insulin like growth factor 1	gene	DOID:10763	hypertension		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:19502719|PMID:22228705
8738804	Igf1	insulin like growth factor 1	gene	DOID:10763	hypertension	severity	ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:16431135|REF_RGD_ID:1598427
8738804	Igf1	insulin like growth factor 1	gene	DOID:10873	Kuhnt-Junius degeneration		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:endothelial cell:	PMID:12714661|REF_RGD_ID:10045893
8738804	Igf1	insulin like growth factor 1	gene	DOID:10873	Kuhnt-Junius degeneration		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:increased expression:aqueous humor of eyeball:	PMID:24106111|REF_RGD_ID:10045867
8738804	Igf1	insulin like growth factor 1	gene	DOID:10907	microcephaly		ISO	RGD:70506	D	RGD:9068941	20250724	RGD		DNA:nonsense mutation,haploinsufficiency :cds:	PMID:20668042|REF_RGD_ID:8548823
8738804	Igf1	insulin like growth factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19415693
8738804	Igf1	insulin like growth factor 1	gene	DOID:11123	IgA vasculitis		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20013271|REF_RGD_ID:10755701
8738804	Igf1	insulin like growth factor 1	gene	DOID:11476	osteoporosis		ISO	RGD:10765	D	RGD:9068941	20200609	RGD			PMID:10499542|REF_RGD_ID:10003127
8738804	Igf1	insulin like growth factor 1	gene	DOID:11476	osteoporosis		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		associated with Cholestasis	PMID:19424739|REF_RGD_ID:10003131
8738804	Igf1	insulin like growth factor 1	gene	DOID:11476	osteoporosis		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:1466160|REF_RGD_ID:10003132
8738804	Igf1	insulin like growth factor 1	gene	DOID:11476	osteoporosis	treatment	ISO	RGD:2868	D	RGD:9068941	20200609	RGD		associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast	PMID:17647196|REF_RGD_ID:10003128
8738804	Igf1	insulin like growth factor 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:15653207|REF_RGD_ID:8549491
8738804	Igf1	insulin like growth factor 1	gene	DOID:11830	myopia	no_association	ISO	RGD:70506	D	RGD:9068941	20200609	RGD		DNA:SNPS: :rs10860860, rs2946834,rs6214(human)	PMID:21976954|REF_RGD_ID:8548829
8738804	Igf1	insulin like growth factor 1	gene	DOID:11830	myopia	susceptibility	ISO	RGD:70506	D	RGD:9068941	20200609	RGD		DNA:SNP,haplotype: : rs12423791,rs5742629(human)	PMID:22509095|REF_RGD_ID:8548838
8738804	Igf1	insulin like growth factor 1	gene	DOID:11830	myopia	susceptibility	ISO	RGD:70506	D	RGD:9068941	20200609	RGD		DNA:SNPS: :rs10860860, rs2946834,rs6214(human)	PMID:20435602|REF_RGD_ID:8548828
8738804	Igf1	insulin like growth factor 1	gene	DOID:11830	myopia	susceptibility	ISO	RGD:70506	D	RGD:9068941	20200609	RGD		DNA:haplotype: :rs12423791,rs7956547,rs5742632(human)	PMID:22332214|REF_RGD_ID:8548827
8738804	Igf1	insulin like growth factor 1	gene	DOID:11984	hypertrophic cardiomyopathy	severity	ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:12135130|REF_RGD_ID:1598422
8738804	Igf1	insulin like growth factor 1	gene	DOID:12132	granulomatosis with polyangiitis		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal cavity mucosa, blood vessel:	PMID:2772560|REF_RGD_ID:8548880
8738804	Igf1	insulin like growth factor 1	gene	DOID:12361	Graves' disease		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:thyroid gland:	PMID:9857239|REF_RGD_ID:8548837
8738804	Igf1	insulin like growth factor 1	gene	DOID:12689	acoustic neuroma	susceptibility	ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:21788435|REF_RGD_ID:8548833
8738804	Igf1	insulin like growth factor 1	gene	DOID:12849	autistic disorder		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17547689
8738804	Igf1	insulin like growth factor 1	gene	DOID:12858	Huntington's disease		ISO	RGD:10765	D	RGD:9068941	20200609	RGD			PMID:23384443|PMID:25140802|REF_RGD_ID:10045865|REF_RGD_ID:10045870
8738804	Igf1	insulin like growth factor 1	gene	DOID:12858	Huntington's disease	treatment	ISO	RGD:70506	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:15371744|REF_RGD_ID:12904970
8738804	Igf1	insulin like growth factor 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:11934830|REF_RGD_ID:1598419
8738804	Igf1	insulin like growth factor 1	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:retina	PMID:16500767|REF_RGD_ID:8548852
8738804	Igf1	insulin like growth factor 1	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:20085549|REF_RGD_ID:8548825
8738804	Igf1	insulin like growth factor 1	gene	DOID:13025	retinopathy of prematurity	no_association	ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:20214047|REF_RGD_ID:8548867
8738804	Igf1	insulin like growth factor 1	gene	DOID:13580	cholestasis		ISO	RGD:2868	D	RGD:9068941	20200609	RGD			PMID:18607346|REF_RGD_ID:10046052
8738804	Igf1	insulin like growth factor 1	gene	DOID:13580	cholestasis		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12826230
8738804	Igf1	insulin like growth factor 1	gene	DOID:14026	folic acid deficiency anemia		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum, cranial bone (rat)	PMID:16111879|REF_RGD_ID:12910463
8738804	Igf1	insulin like growth factor 1	gene	DOID:14183	alcoholic neuropathy		ISO	RGD:2868	D	RGD:9068941	20200609	RGD			PMID:23016131|REF_RGD_ID:10402569
8738804	Igf1	insulin like growth factor 1	gene	DOID:1459	hypothyroidism		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum (rat)	PMID:1380443|REF_RGD_ID:12910458
8738804	Igf1	insulin like growth factor 1	gene	DOID:1485	cystic fibrosis		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory tract epithelium (rat)	PMID:22461702|REF_RGD_ID:12904899
8738804	Igf1	insulin like growth factor 1	gene	DOID:1596	depressive disorder		ISO	RGD:70506	D	RGD:9068941	20240229	RGD		associated with alcohol dependence;protein:increased expression:plasma	PMID:26792039|REF_RGD_ID:401976547
8738804	Igf1	insulin like growth factor 1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:2868	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (rat)	PMID:17584969|REF_RGD_ID:2315650
8738804	Igf1	insulin like growth factor 1	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:70506	D	RGD:9068941	20200609	RGD		DNA:polymorphism (human)	PMID:19064563|REF_RGD_ID:2306689
8738804	Igf1	insulin like growth factor 1	gene	DOID:224	transient cerebral ischemia	severity	ISO	RGD:2868	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum (rat)	PMID:25098324|REF_RGD_ID:12904924
8738804	Igf1	insulin like growth factor 1	gene	DOID:2316	brain ischemia		ISO	RGD:2868	D	RGD:9068941	20200609	RGD			PMID:16882007|REF_RGD_ID:1598411
8738804	Igf1	insulin like growth factor 1	gene	DOID:2316	brain ischemia		ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:19332057|REF_RGD_ID:2306694
8738804	Igf1	insulin like growth factor 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:15625284|REF_RGD_ID:2313768
8738804	Igf1	insulin like growth factor 1	gene	DOID:2449	acromegaly		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1682667|PMID:18381583|PMID:18388193|PMID:9186818
8738804	Igf1	insulin like growth factor 1	gene	DOID:2748	glycogen storage disease III		ISO	RGD:70506	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Glycogen debrancher deficiency	PMID:12955720|PMID:20301788
8738804	Igf1	insulin like growth factor 1	gene	DOID:289	endometriosis		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
8738804	Igf1	insulin like growth factor 1	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:70506	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (human)	PMID:19635508|REF_RGD_ID:5490168
8738804	Igf1	insulin like growth factor 1	gene	DOID:2962	Cockayne syndrome		ISO	RGD:10765	D	RGD:9068941	20200609	RGD			PMID:17326724|REF_RGD_ID:10003139
8738804	Igf1	insulin like growth factor 1	gene	DOID:2987	familial Mediterranean fever	disease_progression	ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:21428190|REF_RGD_ID:5508806
8738804	Igf1	insulin like growth factor 1	gene	DOID:3021	acute kidney failure		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:7540432
8738804	Igf1	insulin like growth factor 1	gene	DOID:3070	high grade glioma	severity	ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:21788435|REF_RGD_ID:8548833
8738804	Igf1	insulin like growth factor 1	gene	DOID:3213	demyelinating disease		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9452187
8738804	Igf1	insulin like growth factor 1	gene	DOID:3407	carotid artery disease		ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:16181175|REF_RGD_ID:1598446
8738804	Igf1	insulin like growth factor 1	gene	DOID:3490	Noonan syndrome		ISO	RGD:10765	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum (mouse)	PMID:22371576|REF_RGD_ID:11352540
8738804	Igf1	insulin like growth factor 1	gene	DOID:3490	Noonan syndrome	treatment	ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:16263833|REF_RGD_ID:11063837
8738804	Igf1	insulin like growth factor 1	gene	DOID:3491	Turner syndrome		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:decreased activity:serum:	PMID:17067837|REF_RGD_ID:12743588
8738804	Igf1	insulin like growth factor 1	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25257527
8738804	Igf1	insulin like growth factor 1	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:10765	D	RGD:9068941	20200609	RGD			PMID:20098680|REF_RGD_ID:2317639
8738804	Igf1	insulin like growth factor 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15286697
8738804	Igf1	insulin like growth factor 1	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:heart (rat)	PMID:11409163|REF_RGD_ID:12904929
8738804	Igf1	insulin like growth factor 1	gene	DOID:3911	progeria	treatment	ISO	RGD:10765	D	RGD:9068941	20200609	RGD			PMID:20805469|REF_RGD_ID:10003141
8738804	Igf1	insulin like growth factor 1	gene	DOID:4248	coronary stenosis		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		mRNA:increased expression:myocyte:	PMID:8102103|REF_RGD_ID:10046053
8738804	Igf1	insulin like growth factor 1	gene	DOID:480	movement disease		ISO	RGD:70506	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: therapeutic	PMID:33035625
8738804	Igf1	insulin like growth factor 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:70506	D	RGD:9068941	20250605	CTD		CTD Direct Evidence: marker/mechanism	PMID:38685136
8738804	Igf1	insulin like growth factor 1	gene	DOID:5154	borna disease		ISO	RGD:2868	D	RGD:9068941	20240222	RGD		mRNA:increased expression:hippocampus	PMID:11175319|REF_RGD_ID:2325644
8738804	Igf1	insulin like growth factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30594912
8738804	Igf1	insulin like growth factor 1	gene	DOID:557	kidney disease		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:8825380
8738804	Igf1	insulin like growth factor 1	gene	DOID:574	peripheral nervous system disease		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:8866126|PMID:9452187
8738804	Igf1	insulin like growth factor 1	gene	DOID:5844	myocardial infarction		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:myocardium	PMID:19295919|REF_RGD_ID:2306696
8738804	Igf1	insulin like growth factor 1	gene	DOID:5844	myocardial infarction	severity	ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:16635594|REF_RGD_ID:1598421
8738804	Igf1	insulin like growth factor 1	gene	DOID:6000	congestive heart failure		ISO	RGD:2868	D	RGD:9068941	20200609	RGD			PMID:12835956|REF_RGD_ID:1598415
8738804	Igf1	insulin like growth factor 1	gene	DOID:6039	uveal melanoma	disease_progression	ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:23197685|REF_RGD_ID:8548834
8738804	Igf1	insulin like growth factor 1	gene	DOID:6543	acne		ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:21054577|REF_RGD_ID:8549489
8738804	Igf1	insulin like growth factor 1	gene	DOID:6543	acne		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:7608381|REF_RGD_ID:8549457
8738804	Igf1	insulin like growth factor 1	gene	DOID:6543	acne	no_association	ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:9347796|REF_RGD_ID:8549499
8738804	Igf1	insulin like growth factor 1	gene	DOID:657	adenoma		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1611713
8738804	Igf1	insulin like growth factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8738804	Igf1	insulin like growth factor 1	gene	DOID:767	muscular atrophy		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18467435
8738804	Igf1	insulin like growth factor 1	gene	DOID:783	end stage renal disease		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10198369
8738804	Igf1	insulin like growth factor 1	gene	DOID:8398	osteoarthritis		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood:	PMID:2290165|REF_RGD_ID:10045857
8738804	Igf1	insulin like growth factor 1	gene	DOID:850	lung disease		ISO	RGD:70506	D	RGD:9068941	20231102	RGD		mRNA:increased expression:lung (human)	PMID:37731513|REF_RGD_ID:401851918
8738804	Igf1	insulin like growth factor 1	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:19171036|REF_RGD_ID:2306713
8738804	Igf1	insulin like growth factor 1	gene	DOID:8725	vascular dementia		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:hippocampus:	PMID:22342912|REF_RGD_ID:10045864
8738804	Igf1	insulin like growth factor 1	gene	DOID:8725	vascular dementia	severity	ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:16181175|REF_RGD_ID:1598446
8738804	Igf1	insulin like growth factor 1	gene	DOID:8778	Crohn's disease		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19751734
8738804	Igf1	insulin like growth factor 1	gene	DOID:8893	psoriasis		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:skin:	PMID:21241374|REF_RGD_ID:8549492
8738804	Igf1	insulin like growth factor 1	gene	DOID:8927	learning disability		ISO	RGD:70506	D	RGD:9068941	20240808	CTD		CTD Direct Evidence: therapeutic	PMID:34632857
8738804	Igf1	insulin like growth factor 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:17194636|REF_RGD_ID:2313764
8738804	Igf1	insulin like growth factor 1	gene	DOID:8947	diabetic retinopathy	susceptibility	ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:16873705|REF_RGD_ID:1598424
8738804	Igf1	insulin like growth factor 1	gene	DOID:9000121	Malocclusion	disease_progression	ISO	RGD:2868	D	RGD:9068941	20200609	RGD			PMID:22758598|REF_RGD_ID:10045831
8738804	Igf1	insulin like growth factor 1	gene	DOID:9000146	Plaque, Atherosclerotic	treatment	ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:17916769|REF_RGD_ID:8548877
8738804	Igf1	insulin like growth factor 1	gene	DOID:9000528	Coronary Disease		ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:15521962|REF_RGD_ID:1626121
8738804	Igf1	insulin like growth factor 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18398872
8738804	Igf1	insulin like growth factor 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		associated with Pancreatic Neoplasms	PMID:19375852|REF_RGD_ID:2317643
8738804	Igf1	insulin like growth factor 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		associated with Uveal Melanoma;protein:increased expression:serum:	PMID:23197685|REF_RGD_ID:8548834
8738804	Igf1	insulin like growth factor 1	gene	DOID:9000998	Brain Injuries	treatment	ISO	RGD:70506	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:9344566|REF_RGD_ID:12904928
8738804	Igf1	insulin like growth factor 1	gene	DOID:9001472	Nasal Polyps		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nasal cavity mucosa:	PMID:18202785|REF_RGD_ID:8548875
8738804	Igf1	insulin like growth factor 1	gene	DOID:9001542	Albuminuria	susceptibility	ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:16645019|REF_RGD_ID:1598420
8738804	Igf1	insulin like growth factor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		protein:increased expression:liver:	PMID:12800242|REF_RGD_ID:10045984
8738804	Igf1	insulin like growth factor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15591519|PMID:15745444
8738804	Igf1	insulin like growth factor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:16434425|REF_RGD_ID:2317647
8738804	Igf1	insulin like growth factor 1	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:2868	D	RGD:9068941	20200609	RGD			PMID:20198635|REF_RGD_ID:12904923
8738804	Igf1	insulin like growth factor 1	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:10765	D	RGD:9068941	20200609	RGD		associated with Rhinosinusitis; mRNA:increased expression:nose:	PMID:20713758|REF_RGD_ID:8548883
8738804	Igf1	insulin like growth factor 1	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		protein:increased expression:skin:	PMID:21296499|REF_RGD_ID:8549452
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:decreased expression:serum (rat)	PMID:10444029|REF_RGD_ID:12904967
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:17194636|REF_RGD_ID:2313764
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002209	Skull Fractures		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:12002507|REF_RGD_ID:8548865
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9452187
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:19088829|REF_RGD_ID:2306715
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002231	Fetal Growth Retardation	onset	ISO	RGD:2868	D	RGD:9068941	20200609	RGD		protein:decreased expression:placenta labyrinth (rat)	PMID:24239160|REF_RGD_ID:12904720
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002231	Fetal Growth Retardation	treatment	ISO	RGD:2868	D	RGD:9068941	20200609	RGD			PMID:15506645|REF_RGD_ID:1600258
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002231	Fetal Growth Retardation	treatment	ISO	RGD:70506	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:9284279|REF_RGD_ID:12910460
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002234	Pituitary Neoplasms		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1611713
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11014614
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002278	Metabolic Bone Diseases	treatment	ISO	RGD:2868	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21567076|REF_RGD_ID:6907380
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002278	Metabolic Bone Diseases	treatment	ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:8619365|REF_RGD_ID:10402812
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:19171036|REF_RGD_ID:2306713
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16465378|PMID:19208208|PMID:24586243
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:10765	D	RGD:9068941	20200609	RGD			PMID:9497937|REF_RGD_ID:10046057
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		mRNA:increased expression:meniscus:	PMID:20633672|REF_RGD_ID:10045868
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002331	Knee Osteoarthritis	disease_progression	ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:8461919|REF_RGD_ID:10045862
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002331	Knee Osteoarthritis	severity	ISO	RGD:2868	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma (rat)	PMID:17133593|REF_RGD_ID:10003130
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002427	Fetal Macrosomia		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:17113804|REF_RGD_ID:12743591
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:19246225|REF_RGD_ID:2306697
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002514	Neointima		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:12791939|REF_RGD_ID:1580477
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002739	Female Urogenital Diseases		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16002989
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:70506	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:7541143|REF_RGD_ID:6483353
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002909	Oxygen-Induced Retinopathy		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum (rat)	PMID:18344903|REF_RGD_ID:12910457
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:16585854|REF_RGD_ID:8549455
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002916	Hyperphagia		ISO	RGD:2868	D	RGD:9068941	20200609	RGD			PMID:17567960|REF_RGD_ID:10046043
8738804	Igf1	insulin like growth factor 1	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10203697|PMID:9452187
8738804	Igf1	insulin like growth factor 1	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8738804	Igf1	insulin like growth factor 1	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:2868	D	RGD:9068941	20200609	RGD			PMID:19766709|REF_RGD_ID:10046049
8738804	Igf1	insulin like growth factor 1	gene	DOID:9003676	Brain Hypoxia-Ischemia	treatment	ISO	RGD:2868	D	RGD:9068941	20200609	RGD			PMID:23694759|REF_RGD_ID:12904932
8738804	Igf1	insulin like growth factor 1	gene	DOID:9003676	Brain Hypoxia-Ischemia	treatment	ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:11672597|REF_RGD_ID:8549456
8738804	Igf1	insulin like growth factor 1	gene	DOID:9003817	Sudden Hearing Loss	treatment	ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:21108784|REF_RGD_ID:8548824
8738804	Igf1	insulin like growth factor 1	gene	DOID:9003921	Zinc Deficiency		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:20404036|REF_RGD_ID:12904966
8738804	Igf1	insulin like growth factor 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10547078
8738804	Igf1	insulin like growth factor 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:10765	D	RGD:9068941	20200609	RGD			PMID:16306169|REF_RGD_ID:1598442
8738804	Igf1	insulin like growth factor 1	gene	DOID:9004091	Osteophytes		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		associated with Acromegaly	PMID:10499542|REF_RGD_ID:10003127
8738804	Igf1	insulin like growth factor 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:70506	D	RGD:9068941	20240808	CTD		CTD Direct Evidence: therapeutic	PMID:34632857
8738804	Igf1	insulin like growth factor 1	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24353828
8738804	Igf1	insulin like growth factor 1	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:9135074|REF_RGD_ID:8549453
8738804	Igf1	insulin like growth factor 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18398872
8738804	Igf1	insulin like growth factor 1	gene	DOID:9004914	Postmenopausal Osteoporosis		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:11063288|REF_RGD_ID:10045861
8738804	Igf1	insulin like growth factor 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:10765	D	RGD:9068941	20200609	RGD			PMID:23342276|REF_RGD_ID:8549490
8738804	Igf1	insulin like growth factor 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15217511|PMID:15528971|PMID:17584969
8738804	Igf1	insulin like growth factor 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:10765	D	RGD:9068941	20200609	RGD		protein:decreased expression:oviduct	PMID:18676006|REF_RGD_ID:2311502
8738804	Igf1	insulin like growth factor 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:corpus cavernosum:	PMID:22133301|REF_RGD_ID:10046054
8738804	Igf1	insulin like growth factor 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebellum, serum	PMID:19382144|REF_RGD_ID:2306671
8738804	Igf1	insulin like growth factor 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart	PMID:20555424|REF_RGD_ID:4142788
8738804	Igf1	insulin like growth factor 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2868	D	RGD:9068941	20241123	RGD		mRNA:altered expression:kidney	PMID:7536658|REF_RGD_ID:152176653
8738804	Igf1	insulin like growth factor 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24632065
8738804	Igf1	insulin like growth factor 1	gene	DOID:9005768	Thinness		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:10578024|REF_RGD_ID:10045866
8738804	Igf1	insulin like growth factor 1	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood:	PMID:8493451|REF_RGD_ID:8548876
8738804	Igf1	insulin like growth factor 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:2868	D	RGD:9068941	20200609	RGD			PMID:12217886|REF_RGD_ID:625688
8738804	Igf1	insulin like growth factor 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver, serum	PMID:18492809|REF_RGD_ID:10402757
8738804	Igf1	insulin like growth factor 1	gene	DOID:9005941	Rhinosinusitis		ISO	RGD:10765	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nose:	PMID:20713758|REF_RGD_ID:8548883
8738804	Igf1	insulin like growth factor 1	gene	DOID:9006008	Closed Head Injuries		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:12002507|REF_RGD_ID:8548865
8738804	Igf1	insulin like growth factor 1	gene	DOID:9006086	Intervertebral Disc Displacement		ISO	RGD:2868	D	RGD:9068941	20200609	RGD			PMID:21037532|REF_RGD_ID:8549460
8738804	Igf1	insulin like growth factor 1	gene	DOID:9006102	Right Ventricular Hypertrophy	treatment	ISO	RGD:2868	D	RGD:9068941	20200609	RGD			PMID:10090325|REF_RGD_ID:12904918
8738804	Igf1	insulin like growth factor 1	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:10765	D	RGD:9068941	20200609	RGD		protein:increased expression:serum,carotid artery:	PMID:12490968|REF_RGD_ID:10046051
8738804	Igf1	insulin like growth factor 1	gene	DOID:9006257	Growth Disorders		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		IGF1 deficiency, OMIM:608747;DNA:deletion	PMID:8857020|REF_RGD_ID:1624297
8738804	Igf1	insulin like growth factor 1	gene	DOID:9006358	Postoperative Cognitive Dysfunction		ISO	RGD:2868	D	RGD:9068941	20250308	RGD		mRNA:decreased expression:hippocampus	PMID:35317728|REF_RGD_ID:597830151
8738804	Igf1	insulin like growth factor 1	gene	DOID:9006358	Postoperative Cognitive Dysfunction		ISO	RGD:70506	D	RGD:9068941	20250308	RGD		mRNA:decreased expression:plasma	PMID:35317728|REF_RGD_ID:597830151
8738804	Igf1	insulin like growth factor 1	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:2868	D	RGD:9068941	20250313	RGD			PMID:33574912|REF_RGD_ID:597830178
8738804	Igf1	insulin like growth factor 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20064577
8738804	Igf1	insulin like growth factor 1	gene	DOID:9006877	Insulin-Like Growth Factor I Deficiency		ISO	RGD:70506	D	RGD:7240710	20180130	OMIM			
8738804	Igf1	insulin like growth factor 1	gene	DOID:9006877	Insulin-Like Growth Factor I Deficiency		ISO	RGD:70506	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INSULIN-LIKE GROWTH FACTOR I DEFICIENCY	
8738804	Igf1	insulin like growth factor 1	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11375343
8738804	Igf1	insulin like growth factor 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:2868	D	RGD:9068941	20200609	RGD			PMID:16698918|REF_RGD_ID:1598426
8738804	Igf1	insulin like growth factor 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8738804	Igf1	insulin like growth factor 1	gene	DOID:9007102	Myocardial Ischemia	severity	ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:16793032|REF_RGD_ID:1598425
8738804	Igf1	insulin like growth factor 1	gene	DOID:9007181	Osteoporotic Fractures		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		DNA:repeat:promoter	PMID:16939403|REF_RGD_ID:10045848
8738804	Igf1	insulin like growth factor 1	gene	DOID:9007181	Osteoporotic Fractures	susceptibility	ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:10752709|REF_RGD_ID:10045863
8738804	Igf1	insulin like growth factor 1	gene	DOID:9007181	Osteoporotic Fractures	treatment	ISO	RGD:2868	D	RGD:9068941	20200609	RGD			PMID:11834155|REF_RGD_ID:10003137
8738804	Igf1	insulin like growth factor 1	gene	DOID:9007284	Precocious Puberty		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21402727
8738804	Igf1	insulin like growth factor 1	gene	DOID:9007346	Cachexia		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30782979
8738804	Igf1	insulin like growth factor 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23639586|PMID:25226513
8738804	Igf1	insulin like growth factor 1	gene	DOID:9007480	Hyperoxia	severity	ISO	RGD:70506	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:17697625|REF_RGD_ID:12904925
8738804	Igf1	insulin like growth factor 1	gene	DOID:9007661	Dwarfism		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma (rat)	PMID:20102388|REF_RGD_ID:12904931
8738804	Igf1	insulin like growth factor 1	gene	DOID:9007661	Dwarfism		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation,haploinsufficiency :cds:	PMID:20668042|REF_RGD_ID:8548823
8738804	Igf1	insulin like growth factor 1	gene	DOID:9007730	Burns		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		mRNA:altered expression:multiple	PMID:10827012|REF_RGD_ID:12910869
8738804	Igf1	insulin like growth factor 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:70506	D	RGD:9068941	20240808	CTD		CTD Direct Evidence: therapeutic	PMID:34632857
8738804	Igf1	insulin like growth factor 1	gene	DOID:9008212	Diabetic Foot		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:decreased expression:fibroblast of dermis,stratum basale of epidermis:	PMID:10727985|REF_RGD_ID:8549356
8738804	Igf1	insulin like growth factor 1	gene	DOID:9008681	Deafness		ISO	RGD:10765	D	RGD:9068941	20200609	RGD			PMID:20661454|REF_RGD_ID:8549497
8738804	Igf1	insulin like growth factor 1	gene	DOID:9008824	Sarcopenia		ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:12919235|REF_RGD_ID:10045859
8738804	Igf1	insulin like growth factor 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17520698|PMID:18398872
8738804	Igf1	insulin like growth factor 1	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10370016
8738804	Igf1	insulin like growth factor 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:corpus cavernosum:	PMID:22133301|REF_RGD_ID:10046054
8738804	Igf1	insulin like growth factor 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2868	D	RGD:9068941	20200609	RGD			PMID:18986336|REF_RGD_ID:2306690
8738804	Igf1	insulin like growth factor 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:16005252|REF_RGD_ID:2313767
8738804	Igf1	insulin like growth factor 1	gene	DOID:9521	Laron syndrome		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:21054577|REF_RGD_ID:8549489
8738804	Igf1	insulin like growth factor 1	gene	DOID:9743	diabetic neuropathy		ISO	RGD:2868	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:19264110|REF_RGD_ID:2306687
8738804	Igf1	insulin like growth factor 1	gene	DOID:9743	diabetic neuropathy		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:17194636|REF_RGD_ID:2313764
8738804	Igf1	insulin like growth factor 1	gene	DOID:9743	diabetic neuropathy	treatment	ISO	RGD:10765	D	RGD:9068941	20200609	RGD			PMID:18545223|REF_RGD_ID:8549454
8738804	Igf1	insulin like growth factor 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:70506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24632065
8738804	Igf1	insulin like growth factor 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:15356074|PMID:19156625|REF_RGD_ID:2306688|REF_RGD_ID:2313769
8738804	Igf1	insulin like growth factor 1	gene	DOID:9744	type 1 diabetes mellitus	severity	ISO	RGD:70506	D	RGD:9068941	20200609	RGD			PMID:16887362|REF_RGD_ID:2313765
8738804	Igf1	insulin like growth factor 1	gene	DOID:987	alopecia		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:decreased secretion:dermal papilla:	PMID:24499417|REF_RGD_ID:8549500
8738804	Igf1	insulin like growth factor 1	gene	DOID:987	alopecia		ISO	RGD:70506	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:10827403|REF_RGD_ID:8549462
8738818	Otud4	OTU deubiquitinase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8738818	Otud4	OTU deubiquitinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8738818	Otud4	OTU deubiquitinase 4	gene	DOID:0060058	lymphoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8738818	Otud4	OTU deubiquitinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8738818	Otud4	OTU deubiquitinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8738818	Otud4	OTU deubiquitinase 4	gene	DOID:1909	melanoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8738818	Otud4	OTU deubiquitinase 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8738818	Otud4	OTU deubiquitinase 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8738818	Otud4	OTU deubiquitinase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8738818	Otud4	OTU deubiquitinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1603307	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8738818	Otud4	OTU deubiquitinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738818	Otud4	OTU deubiquitinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8738818	Otud4	OTU deubiquitinase 4	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	
8738818	Otud4	OTU deubiquitinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738818	Otud4	OTU deubiquitinase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8738818	Otud4	OTU deubiquitinase 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8738883	Unc5b	unc-5 netrin receptor B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736493	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8738883	Unc5b	unc-5 netrin receptor B	gene	DOID:0060058	lymphoma		ISO	RGD:736493	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8738883	Unc5b	unc-5 netrin receptor B	gene	DOID:10534	stomach cancer		ISO	RGD:736493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8738883	Unc5b	unc-5 netrin receptor B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8738883	Unc5b	unc-5 netrin receptor B	gene	DOID:1115	sarcoma		ISO	RGD:736493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8738883	Unc5b	unc-5 netrin receptor B	gene	DOID:1324	lung cancer		ISO	RGD:736493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8738883	Unc5b	unc-5 netrin receptor B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8738883	Unc5b	unc-5 netrin receptor B	gene	DOID:4362	cervical cancer		ISO	RGD:736493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8738883	Unc5b	unc-5 netrin receptor B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8738883	Unc5b	unc-5 netrin receptor B	gene	DOID:5041	esophageal cancer		ISO	RGD:736493	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8738883	Unc5b	unc-5 netrin receptor B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738883	Unc5b	unc-5 netrin receptor B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8738883	Unc5b	unc-5 netrin receptor B	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:736493	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29162556
8738883	Unc5b	unc-5 netrin receptor B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8738883	Unc5b	unc-5 netrin receptor B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738928	Adgrl1	adhesion G protein-coupled receptor L1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8738928	Adgrl1	adhesion G protein-coupled receptor L1	gene	DOID:10534	stomach cancer		ISO	RGD:733163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8738928	Adgrl1	adhesion G protein-coupled receptor L1	gene	DOID:630	genetic disease		ISO	RGD:733163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8738928	Adgrl1	adhesion G protein-coupled receptor L1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620768	D	RGD:9068941	20200609	RGD			PMID:12225880|REF_RGD_ID:2314400
8738928	Adgrl1	adhesion G protein-coupled receptor L1	gene	DOID:9006518	DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS		ISO	RGD:733163	D	RGD:7240710	20221207	OMIM			
8738928	Adgrl1	adhesion G protein-coupled receptor L1	gene	DOID:9006518	DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS		ISO	RGD:733163	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS | ClinVar Annotator: match by term: Developmental delay, behavioral abnormalities, and neuropsychiatric disorders	PMID:25741868|PMID:35907405
8738928	Adgrl1	adhesion G protein-coupled receptor L1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8738993	Ifit5	interferon induced protein with tetratricopeptide repeats 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8738993	Ifit5	interferon induced protein with tetratricopeptide repeats 5	gene	DOID:9001488	Human Influenza		ISO	RGD:1348146	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
8738998	Palm3	paralemmin 3	gene	DOID:1115	sarcoma		ISO	RGD:2803038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8738998	Palm3	paralemmin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2803038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739011	Phf7	PHD finger protein 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8739011	Phf7	PHD finger protein 7	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1318527	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive sensorineural hearing impairment	
8739011	Phf7	PHD finger protein 7	gene	DOID:1115	sarcoma		ISO	RGD:1318527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8739011	Phf7	PHD finger protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739011	Phf7	PHD finger protein 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8739011	Phf7	PHD finger protein 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739011	Phf7	PHD finger protein 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8739026	Rbbp9	RB binding protein 9, serine hydrolase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8739026	Rbbp9	RB binding protein 9, serine hydrolase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349258	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8739026	Rbbp9	RB binding protein 9, serine hydrolase	gene	DOID:5041	esophageal cancer		ISO	RGD:1349258	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8739026	Rbbp9	RB binding protein 9, serine hydrolase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739026	Rbbp9	RB binding protein 9, serine hydrolase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8739026	Rbbp9	RB binding protein 9, serine hydrolase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349258	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8739026	Rbbp9	RB binding protein 9, serine hydrolase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8739035	Tut4	terminal uridylyl transferase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8739035	Tut4	terminal uridylyl transferase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8739035	Tut4	terminal uridylyl transferase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8739035	Tut4	terminal uridylyl transferase 4	gene	DOID:1115	sarcoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8739035	Tut4	terminal uridylyl transferase 4	gene	DOID:1324	lung cancer		ISO	RGD:1320865	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8739035	Tut4	terminal uridylyl transferase 4	gene	DOID:1612	breast cancer	severity	ISO	RGD:1320865	D	RGD:9068941	20200609	RGD		in conjunction with E2f1 expression;mRNA:increased expression:breast (human	PMID:21453498|REF_RGD_ID:11530014
8739035	Tut4	terminal uridylyl transferase 4	gene	DOID:3275	thymoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8739035	Tut4	terminal uridylyl transferase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8739035	Tut4	terminal uridylyl transferase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8739035	Tut4	terminal uridylyl transferase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8739035	Tut4	terminal uridylyl transferase 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8739035	Tut4	terminal uridylyl transferase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739035	Tut4	terminal uridylyl transferase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8739035	Tut4	terminal uridylyl transferase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8739035	Tut4	terminal uridylyl transferase 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8739035	Tut4	terminal uridylyl transferase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739035	Tut4	terminal uridylyl transferase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8739035	Tut4	terminal uridylyl transferase 4	gene	DOID:916	liver benign neoplasm		ISO	RGD:1320865	D	RGD:9068941	20200609	RGD		human cells in a mouse model	PMID:24056962|REF_RGD_ID:11530012
8739035	Tut4	terminal uridylyl transferase 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8739080	Tmed4	transmembrane p24 trafficking protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8739080	Tmed4	transmembrane p24 trafficking protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8739080	Tmed4	transmembrane p24 trafficking protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:734382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:0050835	generalized dystonia		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized dystonia	PMID:25741868
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:0060249	scoliosis		ISO	RGD:734382	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:26740507|PMID:28973083
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:0060686	autosomal dominant nocturnal frontal lobe epilepsy 5		ISO	RGD:734382	D	RGD:7240710	20180130	OMIM			
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:0060686	autosomal dominant nocturnal frontal lobe epilepsy 5		ISO	RGD:734382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18479385|PMID:23086396|PMID:23086397|PMID:23599387|PMID:23934111|PMID:24029078|PMID:24591078|PMID:25326635|PMID:25339316|PMID:25482562|PMID:25590979|PMID:25640679|PMID:25741868|PMID:26122718|PMID:26140313|PMID:26269628|PMID:26369628|PMID:26467025|PMID:26597493|PMID:26740507|PMID:26784557|PMID:26993267|PMID:27029629|PMID:27779742|PMID:28081520|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28973083|PMID:29037447|PMID:29100083|PMID:29158296|PMID:29186148|PMID:29196579|PMID:29314583|PMID:29358611|PMID:29390993|PMID:29933521|PMID:30182418|PMID:30868116|PMID:31216405|PMID:31388363|PMID:31532594|PMID:31560846|PMID:31618474|PMID:31780880|PMID:31872048|PMID:31875159|PMID:32086284|PMID:32139178|PMID:32167590|PMID:32461654|PMID:32593896|PMID:32613771|PMID:33176815|PMID:33650128|PMID:34114611|PMID:34380004|PMID:35571021|PMID:35715422|PMID:35982159|PMID:35982160|PMID:36499459|PMID:37177976|PMID:38644974|PMID:9536098
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:734382	D	RGD:7240710	20180130	OMIM			
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:734382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 14 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 | ClinVar Annotator: match by term: KCNT1-related disorder | ClinVar Annotator: match by term: Malignant migrating partial seizures of infancy	PMID:16199547|PMID:17576681|PMID:18414213|PMID:23086396|PMID:23086397|PMID:24029078|PMID:24120652|PMID:24591078|PMID:25326635|PMID:25339316|PMID:25482562|PMID:25741868|PMID:26122718|PMID:26140313|PMID:26369628|PMID:26467025|PMID:26597493|PMID:26740507|PMID:26784557|PMID:26993267|PMID:27159321|PMID:27779742|PMID:28081520|PMID:28366665|PMID:28488083|PMID:28492532|PMID:28973083|PMID:29100083|PMID:29186148|PMID:29196579|PMID:29358611|PMID:29390993|PMID:30182418|PMID:30868116|PMID:31388363|PMID:31532594|PMID:31560846|PMID:31618474|PMID:31780880|PMID:31872048|PMID:31875159|PMID:32086284|PMID:32167590|PMID:34114611|PMID:35982159|PMID:36499459|PMID:38644974|PMID:9536098
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:0080918	polymicrogyria		ISO	RGD:734382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868|PMID:26122718|PMID:28488083|PMID:28492532|PMID:29100083|PMID:31780880
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:10534	stomach cancer		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:1059	intellectual disability		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25326635|PMID:25741868|PMID:26105150|PMID:26467025|PMID:26740507|PMID:28492532|PMID:28554332|PMID:28973083
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:1059	intellectual disability		ISO	RGD:734382	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Profound intellectual disability	PMID:25741868|PMID:26105150|PMID:26467025|PMID:26740507|PMID:28492532|PMID:28554332|PMID:28973083
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:1059	intellectual disability		ISO	RGD:734382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Profound intellectual disability	PMID:24029078|PMID:25741868|PMID:26122718|PMID:26140313|PMID:26597493|PMID:26740507|PMID:26784557|PMID:28492532|PMID:28554332|PMID:28973083
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:10907	microcephaly		ISO	RGD:734382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:24029078|PMID:25741868|PMID:26122718|PMID:26140313|PMID:26597493|PMID:26740507|PMID:26784557|PMID:28492532|PMID:28973083
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:10908	hydrocephalus		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:28492532
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:28492532
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:11832	visual epilepsy		ISO	RGD:734382	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:17576681|PMID:18414213|PMID:25339316|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26740507|PMID:26786403|PMID:27029629|PMID:28488083|PMID:28492532|PMID:28554332|PMID:29100083|PMID:29358611|PMID:29422393|PMID:9536098
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:11832	visual epilepsy		ISO	RGD:734382	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17576681|PMID:18414213|PMID:25339316|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26740507|PMID:26786403|PMID:27029629|PMID:28488083|PMID:28492532|PMID:28554332|PMID:29358611|PMID:29422393|PMID:9536098
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:1270	hereditary hemorrhagic telangiectasia		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary arteriovenous malformation	PMID:25741868
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:12849	autistic disorder		ISO	RGD:734382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:1324	lung cancer		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:1824	status epilepticus		ISO	RGD:734382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:25741868|PMID:26122718|PMID:28488083|PMID:28492532|PMID:29100083|PMID:31780880
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:1826	epilepsy		ISO	RGD:734382	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Epilepsy syndrome | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder	PMID:17576681|PMID:18414213|PMID:23086396|PMID:23086397|PMID:24319675|PMID:24591078|PMID:25326635|PMID:25326637|PMID:25339316|PMID:25482562|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26648591|PMID:26740507|PMID:26786403|PMID:27029629|PMID:27081515|PMID:27652284|PMID:28488083|PMID:28492532|PMID:28554332|PMID:28987752|PMID:29358611|PMID:29422393|PMID:30182418|PMID:9536098
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:1826	epilepsy		ISO	RGD:734382	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Epilepsy syndrome | ClinVar Annotator: match by term: Seizure	PMID:17576681|PMID:18414213|PMID:23086396|PMID:23086397|PMID:24319675|PMID:24591078|PMID:25326635|PMID:25326637|PMID:25339316|PMID:25482562|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26648591|PMID:26740507|PMID:26786403|PMID:27029629|PMID:27081515|PMID:27652284|PMID:28488083|PMID:28492532|PMID:28554332|PMID:28987752|PMID:29100083|PMID:29358611|PMID:29422393|PMID:30182418|PMID:9536098
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:1826	epilepsy		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:18414213|PMID:18479385|PMID:20301348|PMID:23086396|PMID:24591078|PMID:25326635|PMID:25482562|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26648591|PMID:26740507|PMID:28492532|PMID:28554332|PMID:28973083|PMID:29186148|PMID:29196578|PMID:30112700|PMID:30804880|PMID:31208268|PMID:31388363|PMID:31532594|PMID:31618474|PMID:34114611
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:1826	epilepsy		ISO	RGD:734382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: epilepsy | ClinVar Annotator: match by term: seizure	PMID:18414213|PMID:20301348|PMID:23086396|PMID:24029078|PMID:24591078|PMID:25326635|PMID:25482562|PMID:25741868|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26597493|PMID:26648591|PMID:26740507|PMID:26784557|PMID:28492532|PMID:28973083|PMID:29186148|PMID:29196578|PMID:30112700|PMID:30804880|PMID:31130284|PMID:31208268|PMID:31388363|PMID:31532594|PMID:31618474|PMID:31872048|PMID:32167590|PMID:34114611
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:734382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:24029078|PMID:25741868|PMID:26122718|PMID:26140313|PMID:26597493|PMID:26784557|PMID:28492532
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:2030	anxiety disorder		ISO	RGD:734382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:2234	focal epilepsy		ISO	RGD:734382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure | ClinVar Annotator: match by term: partial epilepsy	PMID:18414213|PMID:24029078|PMID:25741868|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26597493|PMID:26784557|PMID:28492532|PMID:29186148|PMID:34114611
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:2841	asthma		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:3329	benign epilepsy with centrotemporal spikes		ISO	RGD:734382	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Rolandic epilepsy	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:3331	frontal lobe epilepsy		ISO	RGD:734382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23086396
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:4362	cervical cancer		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:734382	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:5419	schizophrenia		ISO	RGD:734382	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:630	genetic disease		ISO	RGD:734382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:18414213|PMID:23086397|PMID:25339316|PMID:25640679|PMID:25741868|PMID:26122718|PMID:26140313|PMID:26436452|PMID:26467025|PMID:26740507|PMID:28081520|PMID:28488083|PMID:28492532|PMID:28973083|PMID:29100083|PMID:29186148|PMID:29358611|PMID:30182418|PMID:31388363|PMID:31618474|PMID:31780880|PMID:34114611|PMID:9536098
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:674	cleft palate		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:8445	intestinal volvulus		ISO	RGD:734382	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Volvulus	PMID:25741868|PMID:26740507|PMID:28973083
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:734382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:24029078|PMID:25741868|PMID:26122718|PMID:26140313|PMID:26597493|PMID:26784557|PMID:28492532
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:8927	learning disability		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:28492532
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:734382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:734382	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:26740507|PMID:28973083
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:9001581	Constipation		ISO	RGD:734382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:24029078|PMID:25741868|PMID:26122718|PMID:26140313|PMID:26597493|PMID:26740507|PMID:26784557|PMID:28492532|PMID:28973083
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:9002563	Gait Ataxia		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29186148|PMID:34114611
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:9003132	Sialorrhea		ISO	RGD:734382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:24029078|PMID:25741868|PMID:26122718|PMID:26140313|PMID:26597493|PMID:26784557|PMID:28492532
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:9003507	Premature Birth		ISO	RGD:734382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:734382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868|PMID:28492532
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:28492532
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25326635|PMID:25741868|PMID:28492532|PMID:29186148|PMID:31388363|PMID:31532594|PMID:31618474|PMID:34114611
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:9005077	Joint Instability		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:25741868|PMID:28492532
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:734382	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:26740507|PMID:28492532|PMID:28973083
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:9005616	Micrognathism		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:9007114	Mobility Limitation		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:9007284	Precocious Puberty		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:28492532
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:734382	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:26740507|PMID:28973083
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:9007661	Dwarfism		ISO	RGD:734382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:734382	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:26740507|PMID:28492532|PMID:28973083
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:9008617	Lethargy		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:25326635|PMID:25741868|PMID:28492532|PMID:31388363|PMID:31532594|PMID:31618474
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:936	brain disease		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
8739096	Kcnt1	potassium sodium-activated channel subfamily T member 1	gene	DOID:963	episodic ataxia		ISO	RGD:734382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary episodic ataxia	
8739138	Kdelr2	KDEL endoplasmic reticulum protein retention receptor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8739138	Kdelr2	KDEL endoplasmic reticulum protein retention receptor 2	gene	DOID:0112201	osteogenesis imperfecta type 21		ISO	RGD:1312161	D	RGD:7240710	20201223	OMIM			
8739138	Kdelr2	KDEL endoplasmic reticulum protein retention receptor 2	gene	DOID:0112201	osteogenesis imperfecta type 21		ISO	RGD:1312161	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XXI | ClinVar Annotator: match by term: Osteogenesis imperfecta, type 21	PMID:25741868
8739138	Kdelr2	KDEL endoplasmic reticulum protein retention receptor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8739138	Kdelr2	KDEL endoplasmic reticulum protein retention receptor 2	gene	DOID:1909	melanoma		ISO	RGD:1312161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8739138	Kdelr2	KDEL endoplasmic reticulum protein retention receptor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312161	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8739138	Kdelr2	KDEL endoplasmic reticulum protein retention receptor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739138	Kdelr2	KDEL endoplasmic reticulum protein retention receptor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8739150	Il19	interleukin 19	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:127303445|RGD:127303452|RGD:13500487|RGD:15142489	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Inflammatory bowel disease	PMID:25741868|PMID:28492532
8739150	Il19	interleukin 19	gene	DOID:10534	stomach cancer		ISO	RGD:1315107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8739150	Il19	interleukin 19	gene	DOID:14115	toxic shock syndrome		ISO	RGD:1315107	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18246602|REF_RGD_ID:5037232
8739150	Il19	interleukin 19	gene	DOID:14115	toxic shock syndrome		ISO	RGD:1315108	D	RGD:9068941	20200609	RGD			PMID:18246602|REF_RGD_ID:5037232
8739150	Il19	interleukin 19	gene	DOID:2841	asthma		ISO	RGD:1315107	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15557163|REF_RGD_ID:5037236
8739150	Il19	interleukin 19	gene	DOID:2841	asthma		ISO	RGD:1315108	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung, serum	PMID:15557163|REF_RGD_ID:5037236
8739150	Il19	interleukin 19	gene	DOID:3388	periodontal disease		ISO	RGD:1583546	D	RGD:9068941	20200609	RGD		mRNA:increased expression:B cell	PMID:20618701|REF_RGD_ID:5024938
8739150	Il19	interleukin 19	gene	DOID:784	chronic kidney disease		ISO	RGD:1315107	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24714768
8739150	Il19	interleukin 19	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1315107	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18006695
8739150	Il19	interleukin 19	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1315107	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19430480
8739160	Map3k12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:10907	microcephaly		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8739160	Map3k12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8739160	Map3k12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:1115	sarcoma		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8739160	Map3k12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:12849	autistic disorder		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8739160	Map3k12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:1324	lung cancer		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8739160	Map3k12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:3070	high grade glioma		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8739160	Map3k12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8739160	Map3k12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739160	Map3k12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8739160	Map3k12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:8927	learning disability		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
8739160	Map3k12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739160	Map3k12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8739213	Med1	mediator complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8739213	Med1	mediator complex subunit 1	gene	DOID:10283	prostate cancer		ISO	RGD:1351174	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8739213	Med1	mediator complex subunit 1	gene	DOID:10283	prostate cancer		ISO	RGD:1351174	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8739213	Med1	mediator complex subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:1351174	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8739213	Med1	mediator complex subunit 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1617613	D	RGD:9068941	20200609	RGD			PMID:27548259|REF_RGD_ID:13513972
8739213	Med1	mediator complex subunit 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1617613	D	RGD:9068941	20220825	MouseDO			
8739213	Med1	mediator complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1351174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8739213	Med1	mediator complex subunit 1	gene	DOID:289	endometriosis		ISO	RGD:1351174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
8739213	Med1	mediator complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1351174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8739213	Med1	mediator complex subunit 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8739213	Med1	mediator complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739213	Med1	mediator complex subunit 1	gene	DOID:6000	congestive heart failure		ISO	RGD:1617613	D	RGD:9068941	20220825	MouseDO			
8739213	Med1	mediator complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20007298
8739213	Med1	mediator complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739213	Med1	mediator complex subunit 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1351174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16109766
8739213	Med1	mediator complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8739247	Vip	vasoactive intestinal peptide	gene	DOID:0060180	colitis		ISO	RGD:732375	D	RGD:9068941	20200609	RGD		associated with Gram-Negative Bacterial Infections	PMID:19661153|REF_RGD_ID:5685605
8739247	Vip	vasoactive intestinal peptide	gene	DOID:0080855	Parkinsonism		ISO	RGD:621647	D	RGD:9068941	20200609	RGD			PMID:15808913|REF_RGD_ID:5685601
8739247	Vip	vasoactive intestinal peptide	gene	DOID:10534	stomach cancer		ISO	RGD:1348931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8739247	Vip	vasoactive intestinal peptide	gene	DOID:1059	intellectual disability		ISO	RGD:1348931	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11357950
8739247	Vip	vasoactive intestinal peptide	gene	DOID:12849	autistic disorder		ISO	RGD:1348931	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17521630
8739247	Vip	vasoactive intestinal peptide	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:732375	D	RGD:9068941	20200609	RGD			PMID:22059987|REF_RGD_ID:5685375
8739247	Vip	vasoactive intestinal peptide	gene	DOID:13141	uveitis		ISO	RGD:621647	D	RGD:9068941	20200609	RGD			PMID:19232006|REF_RGD_ID:4889998
8739247	Vip	vasoactive intestinal peptide	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:1348931	D	RGD:9068941	20200609	RGD			PMID:20442436|REF_RGD_ID:5685623
8739247	Vip	vasoactive intestinal peptide	gene	DOID:14250	Down syndrome		ISO	RGD:1348931	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16289943
8739247	Vip	vasoactive intestinal peptide	gene	DOID:14250	Down syndrome		ISO	RGD:732375	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:19037032|REF_RGD_ID:5685613
8739247	Vip	vasoactive intestinal peptide	gene	DOID:14330	Parkinson's disease		ISO	RGD:1348931	D	RGD:9068941	20200609	RGD			PMID:19476518|REF_RGD_ID:5685606
8739247	Vip	vasoactive intestinal peptide	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:732375	D	RGD:9068941	20220825	MouseDO		OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344	
8739247	Vip	vasoactive intestinal peptide	gene	DOID:1561	cognitive disorder		ISO	RGD:1348931	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:8208360
8739247	Vip	vasoactive intestinal peptide	gene	DOID:1574	alcohol use disorder	susceptibility	ISO	RGD:1348931	D	RGD:9068941	20240229	RGD		DNA:SNPs, haplotype:: (rs3823082,rs688136) (human)	PMID:20554694|REF_RGD_ID:401976551
8739247	Vip	vasoactive intestinal peptide	gene	DOID:1875	impotence		ISO	RGD:1348931	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10233493
8739247	Vip	vasoactive intestinal peptide	gene	DOID:2316	brain ischemia		ISO	RGD:621647	D	RGD:9068941	20200609	RGD			PMID:18158987|REF_RGD_ID:5685617
8739247	Vip	vasoactive intestinal peptide	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8739247	Vip	vasoactive intestinal peptide	gene	DOID:2841	asthma		ISO	RGD:621647	D	RGD:9068941	20200609	RGD			PMID:21419198|REF_RGD_ID:5685381
8739247	Vip	vasoactive intestinal peptide	gene	DOID:2841	asthma		ISO	RGD:732375	D	RGD:9068941	20200609	RGD			PMID:16782752|REF_RGD_ID:5685620
8739247	Vip	vasoactive intestinal peptide	gene	DOID:289	endometriosis		ISO	RGD:1348931	D	RGD:9068941	20200609	RGD			PMID:18928861|REF_RGD_ID:5685615
8739247	Vip	vasoactive intestinal peptide	gene	DOID:365	bladder disease		ISO	RGD:1348931	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18299998
8739247	Vip	vasoactive intestinal peptide	gene	DOID:4483	rhinitis		ISO	RGD:1348931	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12746121|PMID:14680090
8739247	Vip	vasoactive intestinal peptide	gene	DOID:4677	keratitis		ISO	RGD:732375	D	RGD:9068941	20200609	RGD			PMID:21666233|REF_RGD_ID:5685380
8739247	Vip	vasoactive intestinal peptide	gene	DOID:6432	pulmonary hypertension		ISO	RGD:621647	D	RGD:9068941	20200609	RGD			PMID:22140628|REF_RGD_ID:5685374
8739247	Vip	vasoactive intestinal peptide	gene	DOID:6432	pulmonary hypertension		ISO	RGD:732375	D	RGD:9068941	20200609	RGD			PMID:22140628|REF_RGD_ID:5685374
8739247	Vip	vasoactive intestinal peptide	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:1348931	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:20340024|REF_RGD_ID:5685387
8739247	Vip	vasoactive intestinal peptide	gene	DOID:824	periodontitis		ISO	RGD:621647	D	RGD:9068941	20200609	RGD			PMID:19792856|REF_RGD_ID:5685624
8739247	Vip	vasoactive intestinal peptide	gene	DOID:8577	ulcerative colitis	severity	ISO	RGD:1348931	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:colon	PMID:22143367|REF_RGD_ID:5685619
8739247	Vip	vasoactive intestinal peptide	gene	DOID:9000197	Edema		ISO	RGD:1348931	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7508328
8739247	Vip	vasoactive intestinal peptide	gene	DOID:9000641	Pain		ISO	RGD:1348931	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9920454
8739247	Vip	vasoactive intestinal peptide	gene	DOID:9000722	Animal Hepatitis		ISO	RGD:732375	D	RGD:9068941	20200609	RGD			PMID:19222997|REF_RGD_ID:5685610
8739247	Vip	vasoactive intestinal peptide	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:1348931	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15127121|PMID:15144609
8739247	Vip	vasoactive intestinal peptide	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1348931	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19189304
8739247	Vip	vasoactive intestinal peptide	gene	DOID:9001048	Nociceptive Pain		ISO	RGD:621647	D	RGD:9068941	20200609	RGD			PMID:19467283|REF_RGD_ID:5685608
8739247	Vip	vasoactive intestinal peptide	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1348931	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12787826
8739247	Vip	vasoactive intestinal peptide	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1348931	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19189304
8739247	Vip	vasoactive intestinal peptide	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:621647	D	RGD:9068941	20200609	RGD			PMID:19055696|REF_RGD_ID:5685612
8739247	Vip	vasoactive intestinal peptide	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:732375	D	RGD:9068941	20200609	RGD			PMID:21998117|REF_RGD_ID:5685376
8739247	Vip	vasoactive intestinal peptide	gene	DOID:9002554	Tachycardia		ISO	RGD:1348931	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3261545
8739247	Vip	vasoactive intestinal peptide	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:732375	D	RGD:9068941	20200609	RGD			PMID:20978211|REF_RGD_ID:5685386
8739247	Vip	vasoactive intestinal peptide	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:732375	D	RGD:9068941	20200609	RGD			PMID:21693218|REF_RGD_ID:5685379
8739247	Vip	vasoactive intestinal peptide	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1348931	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:8643465
8739247	Vip	vasoactive intestinal peptide	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:621647	D	RGD:9068941	20200609	RGD		associated with Endotoxemia	PMID:20441697|REF_RGD_ID:4145303
8739247	Vip	vasoactive intestinal peptide	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:732375	D	RGD:9068941	20200609	RGD			PMID:21129425|REF_RGD_ID:5685622
8739247	Vip	vasoactive intestinal peptide	gene	DOID:9006024	Hypotension		ISO	RGD:1348931	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9881641
8739247	Vip	vasoactive intestinal peptide	gene	DOID:9007090	Experimental Seizures		ISO	RGD:621647	D	RGD:9068941	20241214	RGD			PMID:20369387|REF_RGD_ID:5685634
8739247	Vip	vasoactive intestinal peptide	gene	DOID:9007402	Gliosis		ISO	RGD:732375	D	RGD:9068941	20200609	RGD			PMID:21281617|REF_RGD_ID:5685382
8739247	Vip	vasoactive intestinal peptide	gene	DOID:9007763	Flushing		ISO	RGD:1348931	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10233493
8739247	Vip	vasoactive intestinal peptide	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:732375	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord, stomach	PMID:19906107|REF_RGD_ID:5685602
8739247	Vip	vasoactive intestinal peptide	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:732375	D	RGD:9068941	20200609	RGD			PMID:20309012|REF_RGD_ID:5685388
8739258	Caap1	caspase activity and apoptosis inhibitor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8739258	Caap1	caspase activity and apoptosis inhibitor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8739258	Caap1	caspase activity and apoptosis inhibitor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8739258	Caap1	caspase activity and apoptosis inhibitor 1	gene	DOID:1324	lung cancer		ISO	RGD:1344567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8739258	Caap1	caspase activity and apoptosis inhibitor 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1344567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8739258	Caap1	caspase activity and apoptosis inhibitor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739258	Caap1	caspase activity and apoptosis inhibitor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8739268	Man2c1	mannosidase alpha class 2C member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8739268	Man2c1	mannosidase alpha class 2C member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8739268	Man2c1	mannosidase alpha class 2C member 1	gene	DOID:0060990	congenital disorder of deglycosylation 2		ISO	RGD:733679	D	RGD:7240710	20220427	OMIM			
8739268	Man2c1	mannosidase alpha class 2C member 1	gene	DOID:0060990	congenital disorder of deglycosylation 2		ISO	RGD:733679	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 | ClinVar Annotator: match by term: Congenital disorder of deglycosylation 2	PMID:25741868|PMID:31865343|PMID:35045343|PMID:37486637
8739268	Man2c1	mannosidase alpha class 2C member 1	gene	DOID:10534	stomach cancer		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8739268	Man2c1	mannosidase alpha class 2C member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8739268	Man2c1	mannosidase alpha class 2C member 1	gene	DOID:1115	sarcoma		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8739268	Man2c1	mannosidase alpha class 2C member 1	gene	DOID:1324	lung cancer		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8739268	Man2c1	mannosidase alpha class 2C member 1	gene	DOID:1909	melanoma		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8739268	Man2c1	mannosidase alpha class 2C member 1	gene	DOID:4362	cervical cancer		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8739268	Man2c1	mannosidase alpha class 2C member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8739268	Man2c1	mannosidase alpha class 2C member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739268	Man2c1	mannosidase alpha class 2C member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8739268	Man2c1	mannosidase alpha class 2C member 1	gene	DOID:9006791	Hypogonadotropic Hypogonadism 27 without Anosmia		ISO	RGD:733679	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 27 without anosmia	
8739268	Man2c1	mannosidase alpha class 2C member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739268	Man2c1	mannosidase alpha class 2C member 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733679	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
8739268	Man2c1	mannosidase alpha class 2C member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8739352	Wapl	WAPL cohesin release factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8739352	Wapl	WAPL cohesin release factor	gene	DOID:10534	stomach cancer		ISO	RGD:1319037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8739352	Wapl	WAPL cohesin release factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8739352	Wapl	WAPL cohesin release factor	gene	DOID:1115	sarcoma		ISO	RGD:1319037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8739352	Wapl	WAPL cohesin release factor	gene	DOID:11836	clubfoot		ISO	RGD:1319037	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
8739352	Wapl	WAPL cohesin release factor	gene	DOID:1324	lung cancer		ISO	RGD:1319037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8739352	Wapl	WAPL cohesin release factor	gene	DOID:1657	ventricular septal defect		ISO	RGD:1319037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
8739352	Wapl	WAPL cohesin release factor	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8739352	Wapl	WAPL cohesin release factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739352	Wapl	WAPL cohesin release factor	gene	DOID:8488	polyhydramnios		ISO	RGD:1319037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
8739352	Wapl	WAPL cohesin release factor	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8739352	Wapl	WAPL cohesin release factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8739352	Wapl	WAPL cohesin release factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8739391	Zbtb3	zinc finger and BTB domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1353634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8739391	Zbtb3	zinc finger and BTB domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1353634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8739391	Zbtb3	zinc finger and BTB domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739391	Zbtb3	zinc finger and BTB domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8739413	CUNH1orf87	chromosome unknown C1orf87 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1602983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8739413	CUNH1orf87	chromosome unknown C1orf87 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8739413	CUNH1orf87	chromosome unknown C1orf87 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8739427	Arhgap5	Rho GTPase activating protein 5	gene	DOID:0111586	Martsolf syndrome 1		ISO	RGD:1318315	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Martsolf syndrome 1	PMID:25741868
8739427	Arhgap5	Rho GTPase activating protein 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8739427	Arhgap5	Rho GTPase activating protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1318315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8739427	Arhgap5	Rho GTPase activating protein 5	gene	DOID:4362	cervical cancer		ISO	RGD:1318315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8739427	Arhgap5	Rho GTPase activating protein 5	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1318315	D	RGD:9068941	20210430	RGD		associated with nasopharynx carcinoma;mRNA, protein:increased expression: epithelium of nasopharynx	PMID:25961434|REF_RGD_ID:11056278
8739427	Arhgap5	Rho GTPase activating protein 5	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1318315	D	RGD:9068941	20230608	CTD		CTD Direct Evidence: marker/mechanism	PMID:36914835
8739427	Arhgap5	Rho GTPase activating protein 5	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1308507	D	RGD:9068941	20210430	RGD		mRNA:increased expression:mammary gland	PMID:10939588|REF_RGD_ID:2316183
8739427	Arhgap5	Rho GTPase activating protein 5	gene	DOID:9005233	Experimental Mammary Neoplasms	disease_progression	ISO	RGD:1318316	D	RGD:9068941	20210430	RGD			PMID:19703301|REF_RGD_ID:126848766
8739427	Arhgap5	Rho GTPase activating protein 5	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1318315	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Pulmonary artery atresia	
8739427	Arhgap5	Rho GTPase activating protein 5	gene	DOID:9009121	lung metastasis		ISO	RGD:1318316	D	RGD:9068941	20210430	RGD		associated with Mammary Neoplasms, Experimental	PMID:20860838|REF_RGD_ID:126848767
8739446	Asf1b	anti-silencing function 1B histone chaperone	gene	DOID:0080909	castration-resistant prostate carcinoma		ISO	RGD:1312634	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29581250
8739446	Asf1b	anti-silencing function 1B histone chaperone	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1312634	D	RGD:9068941	20200609	RGD			PMID:21179005|REF_RGD_ID:9586017
8739446	Asf1b	anti-silencing function 1B histone chaperone	gene	DOID:5041	esophageal cancer		ISO	RGD:1312634	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8739446	Asf1b	anti-silencing function 1B histone chaperone	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739446	Asf1b	anti-silencing function 1B histone chaperone	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312634	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8739454	Cxxc4	CXXC finger protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8739454	Cxxc4	CXXC finger protein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8739454	Cxxc4	CXXC finger protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1354389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8739454	Cxxc4	CXXC finger protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739454	Cxxc4	CXXC finger protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739462	Pbx3	PBX homeobox 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316248	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8739462	Pbx3	PBX homeobox 3	gene	DOID:0111008	X-linked cone-rod dystrophy 1		ISO	RGD:1316248	D	RGD:8554872	20230523	ClinVar		ClinVar Annotator: match by term: X-LINKED ROD CONE DYSTROPHY	
8739462	Pbx3	PBX homeobox 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8739462	Pbx3	PBX homeobox 3	gene	DOID:1324	lung cancer		ISO	RGD:1316248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8739462	Pbx3	PBX homeobox 3	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1316248	D	RGD:9068941	20220902	RGD		RNA:increased expression:esophagus squamous epithelium (human)	PMID:32449803|REF_RGD_ID:153345544
8739462	Pbx3	PBX homeobox 3	gene	DOID:4362	cervical cancer		ISO	RGD:1316248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8739462	Pbx3	PBX homeobox 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316248	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8739462	Pbx3	PBX homeobox 3	gene	DOID:9008565	Congenital Heart Defects, Multiple Types		ISO	RGD:1316248	D	RGD:9068941	20221027	RGD		DNA:missense mutation:CDS:pAla136Val (human)	PMID:22426282|REF_RGD_ID:155630639
8739478	Pip4k2a	phosphatidylinositol-5-phosphate 4-kinase type 2 alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8739478	Pip4k2a	phosphatidylinositol-5-phosphate 4-kinase type 2 alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8739478	Pip4k2a	phosphatidylinositol-5-phosphate 4-kinase type 2 alpha	gene	DOID:1115	sarcoma		ISO	RGD:734348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8739478	Pip4k2a	phosphatidylinositol-5-phosphate 4-kinase type 2 alpha	gene	DOID:1324	lung cancer		ISO	RGD:734348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8739478	Pip4k2a	phosphatidylinositol-5-phosphate 4-kinase type 2 alpha	gene	DOID:1909	melanoma		ISO	RGD:734348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8739478	Pip4k2a	phosphatidylinositol-5-phosphate 4-kinase type 2 alpha	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:734348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8739478	Pip4k2a	phosphatidylinositol-5-phosphate 4-kinase type 2 alpha	gene	DOID:4362	cervical cancer		ISO	RGD:734348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8739478	Pip4k2a	phosphatidylinositol-5-phosphate 4-kinase type 2 alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:734348	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8739478	Pip4k2a	phosphatidylinositol-5-phosphate 4-kinase type 2 alpha	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:734348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8739478	Pip4k2a	phosphatidylinositol-5-phosphate 4-kinase type 2 alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739478	Pip4k2a	phosphatidylinositol-5-phosphate 4-kinase type 2 alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8739478	Pip4k2a	phosphatidylinositol-5-phosphate 4-kinase type 2 alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739478	Pip4k2a	phosphatidylinositol-5-phosphate 4-kinase type 2 alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8739493	Rbp5	retinol binding protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8739493	Rbp5	retinol binding protein 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8739501	Baiap2	BAR/IMD domain containing adaptor protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8739501	Baiap2	BAR/IMD domain containing adaptor protein 2	gene	DOID:0051089	developmental and epileptic encephalopathy 120		ISO	RGD:732926	D	RGD:7240710	20260203	OMIM			
8739501	Baiap2	BAR/IMD domain containing adaptor protein 2	gene	DOID:0051089	developmental and epileptic encephalopathy 120		ISO	RGD:732926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 120	
8739501	Baiap2	BAR/IMD domain containing adaptor protein 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:732926	D	RGD:9068941	20200609	RGD		DNA:snp:intron:c.230-1933G>C (rs11657991) (human)	PMID:20888579|REF_RGD_ID:11576292
8739501	Baiap2	BAR/IMD domain containing adaptor protein 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:732927	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:forebrain (mouse)	PMID:25600067|REF_RGD_ID:11097581
8739501	Baiap2	BAR/IMD domain containing adaptor protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:732926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8739501	Baiap2	BAR/IMD domain containing adaptor protein 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732926	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebral cortex, postsynaptic density (human)	PMID:23537733|REF_RGD_ID:11576299
8739501	Baiap2	BAR/IMD domain containing adaptor protein 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:732926	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:19733838|PMID:24377651|PMID:27217152
8739501	Baiap2	BAR/IMD domain containing adaptor protein 2	gene	DOID:11119	Gilles de la Tourette syndrome		ISO	RGD:732926	D	RGD:9068941	20200609	RGD		DNA:snps, haplotype:multiple (human)	PMID:15303240|REF_RGD_ID:11576298
8739501	Baiap2	BAR/IMD domain containing adaptor protein 2	gene	DOID:1115	sarcoma		ISO	RGD:732926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8739501	Baiap2	BAR/IMD domain containing adaptor protein 2	gene	DOID:1324	lung cancer		ISO	RGD:732926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8739501	Baiap2	BAR/IMD domain containing adaptor protein 2	gene	DOID:1909	melanoma		ISO	RGD:732926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8739501	Baiap2	BAR/IMD domain containing adaptor protein 2	gene	DOID:3275	thymoma		ISO	RGD:732926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8739501	Baiap2	BAR/IMD domain containing adaptor protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:732926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8739501	Baiap2	BAR/IMD domain containing adaptor protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739501	Baiap2	BAR/IMD domain containing adaptor protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8739501	Baiap2	BAR/IMD domain containing adaptor protein 2	gene	DOID:9006832	Puromycin Aminonucleoside Nephrosis		ISO	RGD:619814	D	RGD:9068941	20200609	RGD		protein:increased expression:glomerular visceral epithelial cell	PMID:17569780|REF_RGD_ID:9684990
8739501	Baiap2	BAR/IMD domain containing adaptor protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739501	Baiap2	BAR/IMD domain containing adaptor protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8739501	Baiap2	BAR/IMD domain containing adaptor protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8739542	Cish	cytokine inducible SH2 containing protein	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:735426	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26297436
8739542	Cish	cytokine inducible SH2 containing protein	gene	DOID:12365	malaria		ISO	RGD:735426	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	
8739542	Cish	cytokine inducible SH2 containing protein	gene	DOID:12365	malaria	susceptibility	ISO	RGD:735426	D	RGD:7240710	20190502	OMIM			
8739542	Cish	cytokine inducible SH2 containing protein	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:735426	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
8739542	Cish	cytokine inducible SH2 containing protein	gene	DOID:399	tuberculosis	susceptibility	ISO	RGD:735426	D	RGD:7240710	20190502	OMIM			
8739542	Cish	cytokine inducible SH2 containing protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8739542	Cish	cytokine inducible SH2 containing protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739542	Cish	cytokine inducible SH2 containing protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8739542	Cish	cytokine inducible SH2 containing protein	gene	DOID:9005036	Bacteremia		ISO	RGD:735426	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	
8739542	Cish	cytokine inducible SH2 containing protein	gene	DOID:9005036	Bacteremia	susceptibility	ISO	RGD:735426	D	RGD:7240710	20190502	OMIM			
8739549	Zc3h11a	zinc finger CCCH-type containing 11A	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1605103	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25038754
8739583	Myh7b	myosin heavy chain 7B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8739583	Myh7b	myosin heavy chain 7B	gene	DOID:0060480	left ventricular noncompaction		ISO	RGD:1317507	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: left ventricular noncompaction	PMID:25741868
8739583	Myh7b	myosin heavy chain 7B	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317507	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1	
8739583	Myh7b	myosin heavy chain 7B	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
8739583	Myh7b	myosin heavy chain 7B	gene	DOID:10534	stomach cancer		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8739583	Myh7b	myosin heavy chain 7B	gene	DOID:1115	sarcoma		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
8739583	Myh7b	myosin heavy chain 7B	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1317507	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868
8739583	Myh7b	myosin heavy chain 7B	gene	DOID:1909	melanoma		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8739583	Myh7b	myosin heavy chain 7B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8739583	Myh7b	myosin heavy chain 7B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
8739583	Myh7b	myosin heavy chain 7B	gene	DOID:5041	esophageal cancer		ISO	RGD:1317507	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8739583	Myh7b	myosin heavy chain 7B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739583	Myh7b	myosin heavy chain 7B	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1317507	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction	PMID:25741868
8739583	Myh7b	myosin heavy chain 7B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739583	Myh7b	myosin heavy chain 7B	gene	DOID:9007661	Dwarfism		ISO	RGD:1317507	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
8739583	Myh7b	myosin heavy chain 7B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8739583	Myh7b	myosin heavy chain 7B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
8739583	Myh7b	myosin heavy chain 7B	gene	DOID:9256	colorectal cancer		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8739637	Garin5a	golgi associated RAB2 interactor 5A	gene	DOID:4362	cervical cancer		ISO	RGD:1604551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8739637	Garin5a	golgi associated RAB2 interactor 5A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8739637	Garin5a	golgi associated RAB2 interactor 5A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:0050117	disease by infectious agent		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:10199800|PMID:10577903|PMID:10903341|PMID:12499395|PMID:12646665|PMID:12690102|PMID:12851297|PMID:12970296|PMID:15486053|PMID:16274851|PMID:16507637|PMID:16616374|PMID:16752916|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19301229|PMID:20966905|PMID:25741868|PMID:28492532|PMID:29273807|PMID:29970488
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:733058	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive	PMID:10903341|PMID:12499395|PMID:12690102|PMID:16507637|PMID:16611215|PMID:18559663|PMID:23791567|PMID:25741868|PMID:25741869|PMID:30004997
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:0050741	alcohol dependence	treatment	ISO	RGD:3057	D	RGD:9068941	20241010	RGD			PMID:24635847|REF_RGD_ID:407572518
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:735526	D	RGD:9068941	20220825	MouseDO			
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:1059	intellectual disability		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:10199800|PMID:10577903|PMID:10903341|PMID:12499395|PMID:12646665|PMID:12690102|PMID:12851297|PMID:12970296|PMID:15486053|PMID:16274851|PMID:16507637|PMID:16616374|PMID:16752916|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19301229|PMID:20966905|PMID:25741868|PMID:28492532|PMID:29273807|PMID:29970488
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:11446	sciatic neuropathy		ISO	RGD:3057	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal root ganglia (rat)	PMID:21985621|REF_RGD_ID:6484557
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:10078568|PMID:10199800|PMID:10903343|PMID:12690102|PMID:14633862|PMID:16231025|PMID:16960181|PMID:18801902|PMID:19091795|PMID:19889825|PMID:21404042|PMID:22106157|PMID:22447289|PMID:24276017|PMID:25332687|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30811542|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32534219|PMID:32952152|PMID:35562395
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:11830	myopia		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:18559663|PMID:21729752|PMID:23791567|PMID:24611737|PMID:24705671|PMID:28492532|PMID:30926952|PMID:31002796|PMID:33761344|PMID:35562395
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:11981	morbid obesity		ISO	RGD:733058	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29273807|PMID:29311635
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:11981	morbid obesity		ISO	RGD:733058	D	RGD:9068941	20200609	RGD			PMID:11443223|PMID:12588803|REF_RGD_ID:1600750|REF_RGD_ID:1600755
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:13938	amenorrhea		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:10199800|PMID:10577903|PMID:10903341|PMID:12499395|PMID:12646665|PMID:12690102|PMID:12851297|PMID:12970296|PMID:14764818|PMID:15126516|PMID:15466016|PMID:15486053|PMID:16083993|PMID:16274851|PMID:16289450|PMID:16492696|PMID:16507637|PMID:16616374|PMID:16752916|PMID:17357083|PMID:17579204|PMID:17668051|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19766264|PMID:20696697|PMID:20966905|PMID:21085626|PMID:21404042|PMID:22447289|PMID:22688572|PMID:23146882|PMID:23791567|PMID:24385306|PMID:24611737|PMID:25741868|PMID:26047380|PMID:26238496|PMID:26244670|PMID:26467025|PMID:27222505|PMID:28492532|PMID:29273807|PMID:29970488|PMID:30048591|PMID:30926952
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:3057	D	RGD:9068941	20250417	RGD			PMID:31840601|REF_RGD_ID:598130077
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:1596	depressive disorder		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:18559663|PMID:21729752|PMID:23791567|PMID:24611737|PMID:24705671|PMID:28492532|PMID:30926952|PMID:31002796|PMID:33761344|PMID:35562395
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:3057	D	RGD:9068941	20241010	RGD		associated with alcohol use disorder; associated with alcohol withdrawal syndrome	PMID:18499089|REF_RGD_ID:407572521
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:1827	generalized epilepsy		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:10199800|PMID:10903341|PMID:10903343|PMID:11487744|PMID:12588803|PMID:12646665|PMID:12690102|PMID:12970296|PMID:15486053|PMID:16507637|PMID:16752916|PMID:17628007|PMID:18559663|PMID:20631012|PMID:20826565|PMID:23146882|PMID:25332687|PMID:25741868|PMID:27222505|PMID:28492532|PMID:29970488|PMID:30991789|PMID:32185475
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:2018	hyperinsulinism		ISO	RGD:733058	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23251400
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:2030	anxiety disorder		ISO	RGD:3057	D	RGD:9068941	20240718	RGD		associated with Binge Drinking;protein:increased expression:amygdala, hyopothalamus	PMID:28575455|REF_RGD_ID:406200805
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:219	colon cancer		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:18559663|PMID:21729752|PMID:23791567|PMID:24611737|PMID:24705671|PMID:28492532|PMID:30926952|PMID:31002796|PMID:33761344|PMID:35562395
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:2234	focal epilepsy		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:10199800|PMID:10903341|PMID:10903343|PMID:11487744|PMID:12588803|PMID:12646665|PMID:12690102|PMID:12970296|PMID:15486053|PMID:16507637|PMID:16752916|PMID:17628007|PMID:18559663|PMID:20631012|PMID:20826565|PMID:23146882|PMID:25332687|PMID:25741868|PMID:27222505|PMID:28492532|PMID:29970488|PMID:30991789|PMID:32185475
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:2560	morphine dependence		ISO	RGD:3057	D	RGD:9068941	20241010	RGD		mRNA:altered expression:brain	PMID:8794897|REF_RGD_ID:1566548
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:3087	gingivitis		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:10199800|PMID:10577903|PMID:10903341|PMID:12499395|PMID:12646665|PMID:12690102|PMID:12851297|PMID:12970296|PMID:15486053|PMID:16274851|PMID:16507637|PMID:16616374|PMID:16752916|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19301229|PMID:20966905|PMID:25741868|PMID:28492532|PMID:29273807|PMID:29970488
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:5419	schizophrenia		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:10199800|PMID:10577903|PMID:10903341|PMID:12499395|PMID:12646665|PMID:12690102|PMID:12851297|PMID:12970296|PMID:15486053|PMID:16274851|PMID:16507637|PMID:16616374|PMID:16752916|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19301229|PMID:20966905|PMID:25741868|PMID:28492532|PMID:29273807|PMID:29970488
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:6543	acne		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acne	PMID:12499395|PMID:12970296|PMID:14764818|PMID:15126516|PMID:15466016|PMID:16083993|PMID:16289450|PMID:16492696|PMID:16752916|PMID:17357083|PMID:17579204|PMID:17668051|PMID:18559663|PMID:19091795|PMID:19284607|PMID:19298524|PMID:19400288|PMID:19766264|PMID:20696697|PMID:21085626|PMID:21404042|PMID:22447289|PMID:22688572|PMID:23146882|PMID:23791567|PMID:24385306|PMID:24611737|PMID:25741868|PMID:26047380|PMID:26238496|PMID:26244670|PMID:26467025|PMID:27222505|PMID:28492532|PMID:30048591|PMID:30926952
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:8553	pyoderma gangrenosum		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pyoderma gangrenosum	PMID:10199800|PMID:10577903|PMID:10903341|PMID:12499395|PMID:12646665|PMID:12690102|PMID:12851297|PMID:12970296|PMID:15486053|PMID:16274851|PMID:16507637|PMID:16616374|PMID:16752916|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19301229|PMID:20966905|PMID:25741868|PMID:28492532|PMID:29273807|PMID:29970488
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9001733	Tinnitus		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:18559663|PMID:21729752|PMID:23791567|PMID:24611737|PMID:24705671|PMID:28492532|PMID:30926952|PMID:31002796|PMID:33761344|PMID:35562395
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:3057	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal root ganglia (rat)	PMID:20081244|REF_RGD_ID:6484233
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9002554	Tachycardia		ISO	RGD:3057	D	RGD:9068941	20241017	RGD			PMID:23832700|REF_RGD_ID:407580530
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9002589	Bone Fractures		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:10199800|PMID:10577903|PMID:10903341|PMID:12499395|PMID:12646665|PMID:12690102|PMID:12851297|PMID:12970296|PMID:15486053|PMID:16274851|PMID:16507637|PMID:16616374|PMID:16752916|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19301229|PMID:20966905|PMID:25741868|PMID:28492532|PMID:29273807|PMID:29970488
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9002916	Hyperphagia		ISO	RGD:733058	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23251400
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9003816	Macrocephaly		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:10199800|PMID:10577903|PMID:10903341|PMID:12499395|PMID:12646665|PMID:12690102|PMID:12851297|PMID:12970296|PMID:15486053|PMID:16274851|PMID:16507637|PMID:16616374|PMID:16752916|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19301229|PMID:20966905|PMID:25741868|PMID:28492532|PMID:29273807|PMID:29970488
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9004581	Pediatric Obesity		ISO	RGD:733058	D	RGD:9068941	20260312	RGD		DNA:SNP: :rs571312	PMID:25953783|REF_RGD_ID:11055817
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9004713	Acute-Phase Reaction		ISO	RGD:3057	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:22183812|REF_RGD_ID:6484138
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonic seizure	PMID:10199800|PMID:10903341|PMID:10903343|PMID:11487744|PMID:12588803|PMID:12646665|PMID:12690102|PMID:12970296|PMID:15486053|PMID:16507637|PMID:16752916|PMID:17628007|PMID:18559663|PMID:20631012|PMID:20826565|PMID:23146882|PMID:25332687|PMID:25741868|PMID:27222505|PMID:28492532|PMID:29970488|PMID:30991789|PMID:32185475
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9005827	Spontaneous Fractures		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pathologic fracture	PMID:10199800|PMID:10577903|PMID:10903341|PMID:12499395|PMID:12646665|PMID:12690102|PMID:12851297|PMID:12970296|PMID:15486053|PMID:16274851|PMID:16507637|PMID:16616374|PMID:16752916|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19301229|PMID:20966905|PMID:25741868|PMID:28492532|PMID:29273807|PMID:29970488
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9005930	Endotoxemia		ISO	RGD:3057	D	RGD:9068941	20200609	RGD		mRNA:increased expression:paraventricular nucleus (rat)	PMID:21343543|REF_RGD_ID:6484214
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9007001	Bradycardia		ISO	RGD:3057	D	RGD:9068941	20200609	RGD			PMID:24400148|REF_RGD_ID:13825242
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9007346	Cachexia		ISO	RGD:735526	D	RGD:9068941	20200609	RGD		associated with Myocardial Infarction	PMID:20371568|REF_RGD_ID:6484229
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9007633	Body Weight		ISO	RGD:733058	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22344219|PMID:22344221
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9007692	Insulin Resistance		ISO	RGD:3057	D	RGD:9068941	20210611	RGD		DNA:nonsense mutation:cds:p.K314X (rat)	PMID:24400148|REF_RGD_ID:13825242
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9007692	Insulin Resistance		ISO	RGD:3057	D	RGD:9068941	20240201	RGD		mRNA, protein:decreased expression:liver (rat)	PMID:35945320|REF_RGD_ID:329951016
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9007692	Insulin Resistance		ISO	RGD:733058	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18454146
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10199800|PMID:10577903|PMID:10903341|PMID:12499395|PMID:12646665|PMID:12690102|PMID:12851297|PMID:12970296|PMID:15486053|PMID:16274851|PMID:16507637|PMID:16616374|PMID:16752916|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19301229|PMID:20966905|PMID:25741868|PMID:28492532|PMID:29273807|PMID:29970488
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9008953	Binge-Eating Disorder		ISO	RGD:733058	D	RGD:9068941	20200609	RGD			PMID:12646666|REF_RGD_ID:1600752
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9351	diabetes mellitus		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes	PMID:10199800|PMID:10577903|PMID:10903341|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12851297|PMID:12970296|PMID:14633862|PMID:14764818|PMID:15126516|PMID:15466016|PMID:15486053|PMID:154889963|PMID:15975705|PMID:16030156|PMID:16083993|PMID:16274851|PMID:16289450|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16752916|PMID:16960181|PMID:17306938|PMID:17357083|PMID:17579204|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19179454|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20696697|PMID:20966905|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22492873|PMID:22688572|PMID:23146882|PMID:23505181|PMID:23791567|PMID:24276017|PMID:24385306|PMID:24611737|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26238496|PMID:26244670|PMID:26467025|PMID:27222505|PMID:28492532|PMID:29273807|PMID:29970488|PMID:30048591|PMID:30811542|PMID:30926952|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32534219|PMID:32952152|PMID:35562395
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9452	steatotic liver disease		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:14633862|PMID:16960181|PMID:18801902|PMID:19091795|PMID:19889825|PMID:22106157|PMID:24276017|PMID:25332687|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30811542|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32534219|PMID:32952152|PMID:35562395
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9970	obesity		ISO	RGD:733058	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, autosomal dominant	PMID:10078568|PMID:10199800|PMID:10577903|PMID:10592235|PMID:10903341|PMID:10903343|PMID:11443223|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12815165|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14633862|PMID:14764812|PMID:14764818|PMID:14973783|PMID:15037865|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16083993|PMID:16094248|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17357083|PMID:17492953|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22688572|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24276017|PMID:24385306|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:24890885|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27654141|PMID:28166811|PMID:28492532|PMID:29273807|PMID:29311635|PMID:29758564|PMID:29861388|PMID:29970488|PMID:30048591|PMID:30811542|PMID:30926952|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32534219|PMID:32952152|PMID:9267995
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9970	obesity		ISO	RGD:733058	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, autosomal dominant	PMID:10078568|PMID:10199800|PMID:10577903|PMID:10592235|PMID:10903341|PMID:10903343|PMID:11443223|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12815165|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14633862|PMID:14764812|PMID:14764818|PMID:14973783|PMID:15037865|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16083993|PMID:16094248|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17357083|PMID:17492953|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22688572|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24276017|PMID:24385306|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:24890885|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27654141|PMID:28492532|PMID:29273807|PMID:29311635|PMID:29758564|PMID:29861388|PMID:29970488|PMID:30048591|PMID:30811542|PMID:30926952|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32534219|PMID:32952152|PMID:9267995
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9970	obesity		ISO	RGD:733058	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, autosomal dominant | ClinVar Annotator: match by term: SIM1-related condition	PMID:10078568|PMID:10199800|PMID:10577903|PMID:10592235|PMID:10903341|PMID:10903343|PMID:11443223|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12815165|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14633862|PMID:14764812|PMID:14764818|PMID:14973783|PMID:15037865|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16083993|PMID:16094248|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17357083|PMID:17492953|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:18835933|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22688572|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24276017|PMID:24385306|PMID:24426828|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:24890885|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27654141|PMID:28218067|PMID:28492532|PMID:29273807|PMID:29311635|PMID:29758564|PMID:29861388|PMID:29970488|PMID:30048591|PMID:30719650|PMID:30811542|PMID:30926952|PMID:30991789|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32185475|PMID:32534219|PMID:32952152|PMID:32971154|PMID:33761344|PMID:33889637|PMID:9267995
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9970	obesity		ISO	RGD:733058	D	RGD:8554872	20240604	ClinVar		ClinVar Annotator: match by term: ADCY3-related condition | ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to melanocortin 4 receptor deficiency | ClinVar Annotator: match by term: Obesity, autosomal dominant | ClinVar Annotator: match by term: SIM1-related condition	PMID:10078568|PMID:10199800|PMID:10577903|PMID:10585465|PMID:10592235|PMID:10903341|PMID:10903343|PMID:11443223|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12815165|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14633862|PMID:14764812|PMID:14764818|PMID:14973783|PMID:15037865|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16083993|PMID:16094248|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17357083|PMID:17492953|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:18835933|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22688572|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24248383|PMID:24276017|PMID:24385306|PMID:24426828|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:24890885|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27654141|PMID:28218067|PMID:28492532|PMID:29273807|PMID:29311635|PMID:29758564|PMID:29861388|PMID:29970488|PMID:30048591|PMID:30719650|PMID:30811542|PMID:30926952|PMID:30991789|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32185475|PMID:32534219|PMID:32952152|PMID:32971154|PMID:33761344|PMID:33889637|PMID:9267995
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9970	obesity		ISO	RGD:733058	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to melanocortin 4 receptor deficiency | ClinVar Annotator: match by term: Obesity, autosomal dominant	PMID:10078568|PMID:10199800|PMID:10577903|PMID:10585465|PMID:10592235|PMID:10903341|PMID:10903343|PMID:11443223|PMID:11487744|PMID:12032748|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12815165|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14633862|PMID:14764812|PMID:14764818|PMID:14973783|PMID:15037865|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16083993|PMID:16094248|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16886960|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17356525|PMID:17357083|PMID:17418015|PMID:17492953|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17587397|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:18835933|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19696756|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22688572|PMID:22822657|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24248383|PMID:24276017|PMID:24385306|PMID:24426828|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:24890885|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27654141|PMID:28218067|PMID:28492532|PMID:29273807|PMID:29311635|PMID:29679223|PMID:29758564|PMID:29861388|PMID:29970488|PMID:30048591|PMID:30068297|PMID:30719650|PMID:30811542|PMID:30926952|PMID:30991789|PMID:31002796|PMID:31118516|PMID:31841602|PMID:31947684|PMID:32185475|PMID:32534219|PMID:32916307|PMID:32952152|PMID:32971154|PMID:33761344|PMID:33889637|PMID:36775011|PMID:38528040|PMID:8392067|PMID:9267995
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9970	obesity		ISO	RGD:733058	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to melanocortin 4 receptor deficiency | ClinVar Annotator: match by term: Obesity, autosomal dominant	PMID:10078568|PMID:10199800|PMID:10577903|PMID:10585465|PMID:10592235|PMID:10903341|PMID:10903343|PMID:11443223|PMID:11487744|PMID:12032748|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12815165|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14633862|PMID:14764812|PMID:14764818|PMID:14973783|PMID:15037865|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16083993|PMID:16094248|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16886960|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17356525|PMID:17357083|PMID:17418015|PMID:17492953|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17587397|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:18835933|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19696756|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22688572|PMID:22822657|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24248383|PMID:24276017|PMID:24385306|PMID:24426828|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:24890885|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27654141|PMID:28218067|PMID:28492532|PMID:29031731|PMID:29273807|PMID:29311635|PMID:29679223|PMID:29758564|PMID:29861388|PMID:29970488|PMID:30048591|PMID:30068297|PMID:30586318|PMID:30719650|PMID:30811542|PMID:30926952|PMID:30991789|PMID:31002796|PMID:31118516|PMID:31841602|PMID:31947684|PMID:32185475|PMID:32534219|PMID:32916307|PMID:32952152|PMID:32971154|PMID:33761344|PMID:33889637|PMID:35562395|PMID:36775011|PMID:38528040|PMID:8392067|PMID:9267995
8739645	Mc4r	melanocortin 4 receptor	gene	DOID:9970	obesity		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: ADCY3-related condition | ClinVar Annotator: match by term: MC4R-related disorder | ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity disorder | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency | ClinVar Annotator: match by term: Obesity due to melanocortin 4 receptor deficiency | ClinVar Annotator: match by term: Obesity, autosomal dominant	PMID:10078568|PMID:10199800|PMID:10577903|PMID:10585465|PMID:10903341|PMID:10903343|PMID:11443223|PMID:11487744|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14504270|PMID:14633860|PMID:14633862|PMID:14764812|PMID:14764818|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15489963|PMID:15975705|PMID:16030156|PMID:16083993|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17357083|PMID:17492953|PMID:17579204|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18777518|PMID:18801902|PMID:18835933|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:21719532|PMID:21729752|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22492873|PMID:22688572|PMID:23146882|PMID:23505181|PMID:23791567|PMID:24248383|PMID:24276017|PMID:24385306|PMID:24426828|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27701398|PMID:28218067|PMID:28492532|PMID:28663568|PMID:29273807|PMID:29311635|PMID:29736023|PMID:29758564|PMID:29790872|PMID:29861388|PMID:29970488|PMID:29991773|PMID:30048591|PMID:30719650|PMID:30811542|PMID:30926952|PMID:30981838|PMID:30991789|PMID:31002795|PMID:31002796|PMID:31035493|PMID:31118516|PMID:31417496|PMID:31589614|PMID:31751304|PMID:31841602|PMID:31980526|PMID:32185475|PMID:32349990|PMID:32534219|PMID:32952152|PMID:32971154|PMID:33761344|PMID:33889637|PMID:34045736|PMID:35460704|PMID:35562395|PMID:38402868|PMID:39552559
8739654	Naif1	nuclear apoptosis inducing factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8739661	Slc12a3	solute carrier family 12 member 3	gene	DOID:0050450	Gitelman syndrome		ISO	RGD:733325	D	RGD:7240710	20180130	OMIM			
8739661	Slc12a3	solute carrier family 12 member 3	gene	DOID:0050450	Gitelman syndrome		ISO	RGD:733325	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia | ClinVar Annotator: match by term: GITELMAN SYNDROME | ClinVar Annotator: match by term: Gitelman Syndrome | ClinVar Annotator: match by term: Gitelman syndrome | ClinVar Annotator: match by term: Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria | ClinVar Annotator: match by term: POTASSIUM AND MAGNESIUM DEPLETION | ClinVar Annotator: match by term: SLC12A3-related condition | ClinVar Annotator: match by term: gitelman syndrome	PMID:10516289|PMID:10561140|PMID:10616841|PMID:10988270|PMID:11168953|PMID:11408395|PMID:11456284|PMID:11532083|PMID:11940055|PMID:12008755|PMID:12039972|PMID:12112667|PMID:12483017|PMID:12704198|PMID:12772080|PMID:12911530|PMID:14655226|PMID:14675033|PMID:14750096|PMID:14766743|PMID:15002785|PMID:15069170|PMID:15102966|PMID:15198479|PMID:15206555|PMID:15309683|PMID:15481849|PMID:15687331|PMID:15824853|PMID:15976513|PMID:16199547|PMID:16221718|PMID:16343108|PMID:16370563|PMID:16429844|PMID:16471174|PMID:16801039|PMID:16837915|PMID:16966826|PMID:17000984|PMID:17044667|PMID:17059986|PMID:17159356|PMID:17261437|PMID:17329572|PMID:17414160|PMID:17460608|PMID:17511264|PMID:17576681|PMID:17654016|PMID:17699451|PMID:17873326|PMID:17885550|PMID:18033047|PMID:18287808|PMID:18344243|PMID:18362449|PMID:18391953|PMID:18402569|PMID:18501801|PMID:19033254|PMID:19207868|PMID:19349556|PMID:19420906|PMID:19451210|PMID:19489442|PMID:19508680|PMID:19668106|PMID:20552229|PMID:20675610|PMID:20810575|PMID:20848653|PMID:20981092|PMID:21051746|PMID:21157372|PMID:21256383|PMID:21342329|PMID:21415153|PMID:21628937|PMID:21631963|PMID:21654754|PMID:21753071|PMID:21757836|PMID:21964762|PMID:22009145|PMID:22169961|PMID:22214629|PMID:22241817|PMID:22245519|PMID:22679066|PMID:22728489|PMID:22802996|PMID:22934535|PMID:22990302|PMID:2332871|PMID:23328711|PMID:23475471|PMID:23698802|PMID:23756661|PMID:24033266|PMID:24696311|PMID:24759409|PMID:24776766|PMID:24790334|PMID:24825090|PMID:24830959|PMID:25012174|PMID:25060058|PMID:25112827|PMID:25140267|PMID:25165177|PMID:25273610|PMID:25422309|PMID:25525159|PMID:25741868|PMID:25815233|PMID:25838649|PMID:25841442|PMID:25852896|PMID:25984200|PMID:25990047|PMID:26041598|PMID:26121437|PMID:26221292|PMID:26260218|PMID:26306968|PMID:26467025|PMID:26484179|PMID:26770037|PMID:26825084|PMID:26830254|PMID:26920127|PMID:26990548|PMID:27173320|PMID:27216017|PMID:27303630|PMID:27386324|PMID:27454426|PMID:27582097|PMID:27783806|PMID:27784896|PMID:27872838|PMID:28251383|PMID:28325561|PMID:28469853|PMID:28492532|PMID:28700713|PMID:28947054|PMID:29095814|PMID:29204651|PMID:29378538|PMID:29398133|PMID:29403282|PMID:29572370|PMID:29925901|PMID:29942493|PMID:29953267|PMID:30084681|PMID:30136149|PMID:30138938|PMID:30413979|PMID:30558554|PMID:30586318|PMID:30596175|PMID:30945685|PMID:31105122|PMID:31183353|PMID:31285285|PMID:31308072|PMID:31328266|PMID:31363482|PMID:31398183|PMID:31577716|PMID:31672324|PMID:31738409|PMID:31808035|PMID:32005694|PMID:32129221|PMID:32221616|PMID:32397528|PMID:32528714|PMID:32542819|PMID:32758178|PMID:32758191|PMID:32860008|PMID:32884933|PMID:32939031|PMID:33095447|PMID:33121425|PMID:33144682|PMID:33226606|PMID:33238651|PMID:33328404|PMID:33348466|PMID:33382082|PMID:33532864|PMID:33585337|PMID:33763274|PMID:33807568|PMID:33964006|PMID:33993910|PMID:33996672|PMID:34046503|PMID:34373523|PMID:34389731|PMID:34426522|PMID:34657521|PMID:34746741|PMID:34805638|PMID:34860177|PMID:35118535|PMID:35368791|PMID:35368817|PMID:35509038|PMID:35545335|PMID:35591852|PMID:35599441|PMID:35628451|PMID:35785516|PMID:36158002|PMID:36302598|PMID:36314956|PMID:36460433|PMID:36474027|PMID:36597580|PMID:36806220|PMID:36938085|PMID:36964972|PMID:37078890|PMID:37197138|PMID:37217505|PMID:37248651|PMID:37273382|PMID:37327293|PMID:37360783|PMID:37576796|PMID:37702302|PMID:38478191|PMID:41057907|PMID:8528245|PMID:8812482|PMID:8865231|PMID:8900229|PMID:8954067|PMID:9536098|PMID:9596079|PMID:9734597
8739661	Slc12a3	solute carrier family 12 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8739661	Slc12a3	solute carrier family 12 member 3	gene	DOID:10763	hypertension		ISO	RGD:733325	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18480177
8739661	Slc12a3	solute carrier family 12 member 3	gene	DOID:10825	essential hypertension		ISO	RGD:733325	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.R904Q (human)	PMID:15480096|REF_RGD_ID:1580589
8739661	Slc12a3	solute carrier family 12 member 3	gene	DOID:10825	essential hypertension	severity	ISO	RGD:733325	D	RGD:9068941	20200609	RGD		DNA:snp:intron:g.1784C>T (human)	PMID:15824464|REF_RGD_ID:1580586
8739661	Slc12a3	solute carrier family 12 member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8739661	Slc12a3	solute carrier family 12 member 3	gene	DOID:12849	autistic disorder		ISO	RGD:733325	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism	PMID:12112667|PMID:21051746|PMID:21415153|PMID:22009145|PMID:25741868|PMID:26260218|PMID:26467025|PMID:28492532|PMID:30596175|PMID:31398183
8739661	Slc12a3	solute carrier family 12 member 3	gene	DOID:1324	lung cancer		ISO	RGD:733325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8739661	Slc12a3	solute carrier family 12 member 3	gene	DOID:178	vascular disease		ISO	RGD:733325	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23348737
8739661	Slc12a3	solute carrier family 12 member 3	gene	DOID:1826	epilepsy		ISO	RGD:733325	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:12112667|PMID:21051746|PMID:21415153|PMID:22009145|PMID:25741868|PMID:26260218|PMID:26467025|PMID:28492532|PMID:30596175|PMID:31398183
8739661	Slc12a3	solute carrier family 12 member 3	gene	DOID:3275	thymoma		ISO	RGD:733325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8739661	Slc12a3	solute carrier family 12 member 3	gene	DOID:4362	cervical cancer		ISO	RGD:733325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8739661	Slc12a3	solute carrier family 12 member 3	gene	DOID:445	Bartter disease		ISO	RGD:733325	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bartter syndrome	PMID:11168953|PMID:12039972|PMID:17329572|PMID:18391953|PMID:20848653|PMID:21415153|PMID:22009145|PMID:23328711|PMID:25741868|PMID:25841442|PMID:26467025|PMID:28125972|PMID:28492532|PMID:29398133|PMID:29942493
8739661	Slc12a3	solute carrier family 12 member 3	gene	DOID:4500	hypokalemia		ISO	RGD:733325	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypokalemia	PMID:12112667|PMID:21051746|PMID:21415153|PMID:22009145|PMID:25741868|PMID:26260218|PMID:26467025|PMID:28492532|PMID:30596175|PMID:31398183
8739661	Slc12a3	solute carrier family 12 member 3	gene	DOID:557	kidney disease		ISO	RGD:733325	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21865292
8739661	Slc12a3	solute carrier family 12 member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8739661	Slc12a3	solute carrier family 12 member 3	gene	DOID:630	genetic disease		ISO	RGD:733325	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11168953|PMID:12039972|PMID:12483017|PMID:16801039|PMID:17059986|PMID:17159356|PMID:17329572|PMID:17654016|PMID:18033047|PMID:18391953|PMID:19451210|PMID:21415153|PMID:21753071|PMID:22009145|PMID:23328711|PMID:24790334|PMID:25741868|PMID:26467025|PMID:26484179|PMID:28492532|PMID:29398133|PMID:29942493|PMID:30586318|PMID:30596175|PMID:31672324|PMID:33095447|PMID:34426522|PMID:34805638
8739661	Slc12a3	solute carrier family 12 member 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3686	D	RGD:9068941	20200609	RGD		protein:altered expression:kidney (rat)	PMID:15956070|REF_RGD_ID:1580587
8739661	Slc12a3	solute carrier family 12 member 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733325	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12112667|PMID:21051746|PMID:21415153|PMID:22009145|PMID:25741868|PMID:26260218|PMID:26467025|PMID:28492532|PMID:30596175|PMID:31398183
8739702	Fbln5	fibulin 5	gene	DOID:0050581	brachydactyly		ISO	RGD:736145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:28492532|PMID:37091313
8739702	Fbln5	fibulin 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8739702	Fbln5	fibulin 5	gene	DOID:0070135	autosomal recessive cutis laxa type IA		ISO	RGD:736145	D	RGD:7240710	20180130	OMIM			
8739702	Fbln5	fibulin 5	gene	DOID:0070135	autosomal recessive cutis laxa type IA		ISO	RGD:736145	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1A	PMID:12189163|PMID:16652333|PMID:16691202|PMID:21576112|PMID:22829427|PMID:24962763|PMID:25741868|PMID:28492532|PMID:2965322|PMID:29653220|PMID:32802946
8739702	Fbln5	fibulin 5	gene	DOID:0070136	autosomal dominant cutis laxa 2		ISO	RGD:736145	D	RGD:7240710	20180130	OMIM			
8739702	Fbln5	fibulin 5	gene	DOID:0070136	autosomal dominant cutis laxa 2		ISO	RGD:736145	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 2	PMID:21576112|PMID:25741868|PMID:28492532|PMID:2965322|PMID:29653220|PMID:32802946
8739702	Fbln5	fibulin 5	gene	DOID:0070142	autosomal dominant cutis laxa		ISO	RGD:736145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa, autosomal dominant	PMID:16374472|PMID:16652333|PMID:17035250|PMID:20007835|PMID:20599547|PMID:28492532
8739702	Fbln5	fibulin 5	gene	DOID:0070144	autosomal recessive cutis laxa type I		ISO	RGD:736145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive cutis laxa type 1	PMID:16374472|PMID:16652333|PMID:17035250|PMID:20007835|PMID:20599547|PMID:28492532
8739702	Fbln5	fibulin 5	gene	DOID:0110026	age related macular degeneration 14		ISO	RGD:736145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF	PMID:15269314|PMID:16652333|PMID:20007835|PMID:21576112|PMID:25741868|PMID:28492532
8739702	Fbln5	fibulin 5	gene	DOID:10534	stomach cancer		ISO	RGD:736145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8739702	Fbln5	fibulin 5	gene	DOID:10871	age related macular degeneration		ISO	RGD:736145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Age-related macular degeneration	PMID:16652333
8739702	Fbln5	fibulin 5	gene	DOID:1115	sarcoma		ISO	RGD:736145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8739702	Fbln5	fibulin 5	gene	DOID:11162	respiratory failure		ISO	RGD:736145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12189163
8739702	Fbln5	fibulin 5	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:736145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
8739702	Fbln5	fibulin 5	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:736145	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Proximal spinal muscular atrophy	
8739702	Fbln5	fibulin 5	gene	DOID:1324	lung cancer		ISO	RGD:736145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8739702	Fbln5	fibulin 5	gene	DOID:178	vascular disease		ISO	RGD:736145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12189163
8739702	Fbln5	fibulin 5	gene	DOID:2349	arteriosclerosis		ISO	RGD:736146	D	RGD:9068941	20200609	RGD			PMID:10428823|REF_RGD_ID:69830
8739702	Fbln5	fibulin 5	gene	DOID:3144	cutis laxa		ISO	RGD:736145	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:16374472|PMID:16652333|PMID:17035250|PMID:20007835|PMID:20599547|PMID:21576112|PMID:24033266|PMID:25741868|PMID:28492532|PMID:2965322|PMID:29653220|PMID:32802946
8739702	Fbln5	fibulin 5	gene	DOID:3275	thymoma		ISO	RGD:736145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8739702	Fbln5	fibulin 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8739702	Fbln5	fibulin 5	gene	DOID:5041	esophageal cancer		ISO	RGD:736145	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8739702	Fbln5	fibulin 5	gene	DOID:5723	optic atrophy		ISO	RGD:736145	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:19194475|PMID:21576112|PMID:25741868|PMID:28492532|PMID:28765615|PMID:2965322|PMID:29653220|PMID:32802946
8739702	Fbln5	fibulin 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8739702	Fbln5	fibulin 5	gene	DOID:6000	congestive heart failure		ISO	RGD:736145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12189163
8739702	Fbln5	fibulin 5	gene	DOID:630	genetic disease		ISO	RGD:736145	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28492532
8739702	Fbln5	fibulin 5	gene	DOID:6432	pulmonary hypertension		ISO	RGD:736145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12189163
8739702	Fbln5	fibulin 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8739702	Fbln5	fibulin 5	gene	DOID:7319	axonal neuropathy		ISO	RGD:736145	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Peripheral axonal neuropathy	PMID:25741868|PMID:28492532|PMID:32657593
8739702	Fbln5	fibulin 5	gene	DOID:8501	fundus dystrophy		ISO	RGD:736145	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:21576112|PMID:25741868|PMID:28492532|PMID:2965322|PMID:29653220|PMID:32802946
8739702	Fbln5	fibulin 5	gene	DOID:9000848	Charcot-Marie-Tooth Disease Type 1H		ISO	RGD:736145	D	RGD:7240710	20220316	OMIM			
8739702	Fbln5	fibulin 5	gene	DOID:9000848	Charcot-Marie-Tooth Disease Type 1H		ISO	RGD:736145	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1H | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION	PMID:21576112|PMID:23328402|PMID:25741868|PMID:27549087|PMID:28332470|PMID:28492532|PMID:2965322|PMID:29653220|PMID:30544257|PMID:31945625|PMID:32757322|PMID:32802946
8739702	Fbln5	fibulin 5	gene	DOID:9001733	Tinnitus		ISO	RGD:736145	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:21576112|PMID:25741868|PMID:28492532|PMID:2965322|PMID:29653220|PMID:32802946
8739702	Fbln5	fibulin 5	gene	DOID:9002034	Autosomal Recessive Cutis Laxa		ISO	RGD:736145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12189163
8739702	Fbln5	fibulin 5	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17929269
8739702	Fbln5	fibulin 5	gene	DOID:9002884	Emphysema		ISO	RGD:736145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12189163
8739702	Fbln5	fibulin 5	gene	DOID:9005077	Joint Instability		ISO	RGD:736145	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:21576112|PMID:25741868|PMID:28492532|PMID:2965322|PMID:29653220|PMID:32802946
8739702	Fbln5	fibulin 5	gene	DOID:9007916	age related macular degeneration 3		ISO	RGD:736145	D	RGD:7240710	20180130	OMIM			
8739702	Fbln5	fibulin 5	gene	DOID:9007916	age related macular degeneration 3		ISO	RGD:736145	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 3 | ClinVar Annotator: match by term: Macular degeneration, age-related, 3	PMID:15269314|PMID:16374472|PMID:16652333|PMID:17035250|PMID:20007835|PMID:20599547|PMID:21576112|PMID:25741868|PMID:28492532|PMID:29412171|PMID:2965322|PMID:29653220|PMID:32802946|PMID:37761846
8739702	Fbln5	fibulin 5	gene	DOID:9008305	Talipes Cavus		ISO	RGD:736145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:21576112|PMID:23328402|PMID:25741868|PMID:27549087|PMID:28332470|PMID:28492532|PMID:30544257|PMID:31945625|PMID:32757322|PMID:32802946|PMID:37091313
8739702	Fbln5	fibulin 5	gene	DOID:9008680	Respiratory Tract Infections		ISO	RGD:736145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12189163
8739725	Dusp4	dual specificity phosphatase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8739725	Dusp4	dual specificity phosphatase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739725	Dusp4	dual specificity phosphatase 4	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1348525	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8739725	Dusp4	dual specificity phosphatase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8739736	Prr22	proline rich 22	gene	DOID:1324	lung cancer		ISO	RGD:1602428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8739736	Prr22	proline rich 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:0050770	polycystic liver disease		ISO	RGD:1320068	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:21685914|PMID:24719335
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:0050770	polycystic liver disease		ISO	RGD:1320069	D	RGD:9068941	20260521	MouseDO		OMIM:174050	
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:0060980	polycystic liver disease 1		ISO	RGD:1320068	D	RGD:7240710	20180130	OMIM			
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:0060980	polycystic liver disease 1		ISO	RGD:1320068	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS | ClinVar Annotator: match by term: PRKCSH-related condition | ClinVar Annotator: match by term: Polycystic liver disease 1 | ClinVar Annotator: match by term: Polycystic liver disease 1 with or without kidney cysts	PMID:12529853|PMID:12577059|PMID:20095989|PMID:25741868|PMID:28492532|PMID:31328266
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1320068	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21685914
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:10534	stomach cancer		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:1324	lung cancer		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:1909	melanoma		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:2043	hepatitis B	treatment	ISO	RGD:1320069	D	RGD:9068941	20200609	RGD			PMID:24769044|REF_RGD_ID:14402034
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:409	liver disease		ISO	RGD:1320068	D	RGD:9068941	20200609	RGD			PMID:12529853|REF_RGD_ID:1599188
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:4362	cervical cancer		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:5041	esophageal cancer		ISO	RGD:1320068	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:630	genetic disease		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:784	chronic kidney disease		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: chronic kidney disease	PMID:25741868|PMID:28492532
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8739743	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:9256	colorectal cancer		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8739765	Arfip2	ARF interacting protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8739765	Arfip2	ARF interacting protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8739765	Arfip2	ARF interacting protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8739765	Arfip2	ARF interacting protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1349532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8739765	Arfip2	ARF interacting protein 2	gene	DOID:1909	melanoma		ISO	RGD:1349532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8739765	Arfip2	ARF interacting protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1349532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8739765	Arfip2	ARF interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739765	Arfip2	ARF interacting protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739789	Dennd2d	DENN domain containing 2D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8739789	Dennd2d	DENN domain containing 2D	gene	DOID:1324	lung cancer		ISO	RGD:1602459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8739789	Dennd2d	DENN domain containing 2D	gene	DOID:1909	melanoma		ISO	RGD:1602459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8739789	Dennd2d	DENN domain containing 2D	gene	DOID:5041	esophageal cancer		ISO	RGD:1602459	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8739789	Dennd2d	DENN domain containing 2D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739789	Dennd2d	DENN domain containing 2D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739789	Dennd2d	DENN domain containing 2D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8739809	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8739809	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8739809	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:10534	stomach cancer		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8739809	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:1324	lung cancer		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8739809	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8739809	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:2661	myoepithelioma		ISO	RGD:1323786	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8739809	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1323786	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8739809	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8739809	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739809	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8739809	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8739809	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:9003566	Mesothelioma		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8739809	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8739809	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739809	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8739842	Fbxo17	F-box protein 17	gene	DOID:1909	melanoma		ISO	RGD:1318004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8739842	Fbxo17	F-box protein 17	gene	DOID:4362	cervical cancer		ISO	RGD:1318004	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8739842	Fbxo17	F-box protein 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739842	Fbxo17	F-box protein 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739842	Fbxo17	F-box protein 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8739851	Il31	interleukin 31	gene	DOID:3310	atopic dermatitis		ISO	RGD:1353267	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437
8739864	Srpk1	SRSF protein kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8739864	Srpk1	SRSF protein kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8739864	Srpk1	SRSF protein kinase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8739864	Srpk1	SRSF protein kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8739864	Srpk1	SRSF protein kinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8739864	Srpk1	SRSF protein kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739864	Srpk1	SRSF protein kinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8739864	Srpk1	SRSF protein kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8739864	Srpk1	SRSF protein kinase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8739864	Srpk1	SRSF protein kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739864	Srpk1	SRSF protein kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8739881	Sra1	steroid receptor RNA activator 1	gene	DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia		ISO	RGD:1353576	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8739881	Sra1	steroid receptor RNA activator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8739881	Sra1	steroid receptor RNA activator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8739881	Sra1	steroid receptor RNA activator 1	gene	DOID:1909	melanoma		ISO	RGD:1353576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8739881	Sra1	steroid receptor RNA activator 1	gene	DOID:3614	Kallmann syndrome		ISO	RGD:1353576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypogonadism with anosmia	
8739881	Sra1	steroid receptor RNA activator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739881	Sra1	steroid receptor RNA activator 1	gene	DOID:6000	congestive heart failure	severity	ISO	RGD:1353576	D	RGD:9068941	20230401	RGD		associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human)	PMID:27317124|REF_RGD_ID:243048444
8739881	Sra1	steroid receptor RNA activator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739881	Sra1	steroid receptor RNA activator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8739895	Gnrh2p	gonadotropin releasing hormone 2 pseudogene	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8739895	Gnrh2p	gonadotropin releasing hormone 2 pseudogene	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739900	Qrich1	glutamine rich 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:34859529
8739900	Qrich1	glutamine rich 1	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868|PMID:34859529
8739900	Qrich1	glutamine rich 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8739900	Qrich1	glutamine rich 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606541	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8739900	Qrich1	glutamine rich 1	gene	DOID:0060260	ptosis		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:34859529
8739900	Qrich1	glutamine rich 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:34859529
8739900	Qrich1	glutamine rich 1	gene	DOID:1059	intellectual disability		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:34859529
8739900	Qrich1	glutamine rich 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8739900	Qrich1	glutamine rich 1	gene	DOID:12849	autistic disorder		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:27694994|PMID:28492532
8739900	Qrich1	glutamine rich 1	gene	DOID:1324	lung cancer		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8739900	Qrich1	glutamine rich 1	gene	DOID:1826	epilepsy		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:34859529
8739900	Qrich1	glutamine rich 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:25741868
8739900	Qrich1	glutamine rich 1	gene	DOID:3275	thymoma		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8739900	Qrich1	glutamine rich 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606541	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8739900	Qrich1	glutamine rich 1	gene	DOID:630	genetic disease		ISO	RGD:1606541	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27694994|PMID:28492532|PMID:34859529
8739900	Qrich1	glutamine rich 1	gene	DOID:6364	migraine		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868|PMID:34859529
8739900	Qrich1	glutamine rich 1	gene	DOID:870	neuropathy		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868|PMID:34859529
8739900	Qrich1	glutamine rich 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	
8739900	Qrich1	glutamine rich 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:34859529
8739900	Qrich1	glutamine rich 1	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:27694994|PMID:28492532
8739900	Qrich1	glutamine rich 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8739900	Qrich1	glutamine rich 1	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
8739900	Qrich1	glutamine rich 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	PMID:25741868|PMID:34859529
8739900	Qrich1	glutamine rich 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:34859529
8739900	Qrich1	glutamine rich 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:34859529
8739900	Qrich1	glutamine rich 1	gene	DOID:9006617	Fatigue		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:25741868|PMID:34859529
8739900	Qrich1	glutamine rich 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739900	Qrich1	glutamine rich 1	gene	DOID:9007001	Bradycardia		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:25741868|PMID:34859529
8739900	Qrich1	glutamine rich 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:34859529
8739900	Qrich1	glutamine rich 1	gene	DOID:9009176	Ververi-Brady syndrome 1		ISO	RGD:1606541	D	RGD:7240710	20190315	OMIM			
8739900	Qrich1	glutamine rich 1	gene	DOID:9009176	Ververi-Brady syndrome 1		ISO	RGD:1606541	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: QRICH1-related condition | ClinVar Annotator: match by term: VERVERI-BRADY SYNDROME 1 | ClinVar Annotator: match by term: Ververi-Brady syndrome | ClinVar Annotator: match by term: Ververi-Brady syndrome 1	PMID:25741868|PMID:27694994|PMID:28492532|PMID:28692176|PMID:29758562|PMID:30281152|PMID:34859529
8739900	Qrich1	glutamine rich 1	gene	DOID:9220	central sleep apnea		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central sleep apnea syndrome	PMID:25741868|PMID:34859529
8739921	Cuta	cutA divalent cation tolerance homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8739921	Cuta	cutA divalent cation tolerance homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8739921	Cuta	cutA divalent cation tolerance homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1346513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8739921	Cuta	cutA divalent cation tolerance homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8739921	Cuta	cutA divalent cation tolerance homolog	gene	DOID:1324	lung cancer		ISO	RGD:1346513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8739921	Cuta	cutA divalent cation tolerance homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1346513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8739921	Cuta	cutA divalent cation tolerance homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739921	Cuta	cutA divalent cation tolerance homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739935	Angptl2	angiopoietin like 2	gene	DOID:10223	dermatomyositis		ISO	RGD:733950	D	RGD:9068941	20240425	MouseDO			
8739944	Prmt3	protein arginine methyltransferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8739944	Prmt3	protein arginine methyltransferase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1604394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8739944	Prmt3	protein arginine methyltransferase 3	gene	DOID:1115	sarcoma		ISO	RGD:1604394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8739944	Prmt3	protein arginine methyltransferase 3	gene	DOID:1324	lung cancer		ISO	RGD:1604394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8739944	Prmt3	protein arginine methyltransferase 3	gene	DOID:2841	asthma		ISO	RGD:620413	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:20423833|REF_RGD_ID:9491823
8739944	Prmt3	protein arginine methyltransferase 3	gene	DOID:3275	thymoma		ISO	RGD:1604394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8739944	Prmt3	protein arginine methyltransferase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1604394	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8739944	Prmt3	protein arginine methyltransferase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8739944	Prmt3	protein arginine methyltransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739944	Prmt3	protein arginine methyltransferase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604394	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8739944	Prmt3	protein arginine methyltransferase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739944	Prmt3	protein arginine methyltransferase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8739944	Prmt3	protein arginine methyltransferase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8739986	Sp3	Sp3 transcription factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8739986	Sp3	Sp3 transcription factor	gene	DOID:0060058	lymphoma		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8739986	Sp3	Sp3 transcription factor	gene	DOID:1115	sarcoma		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8739986	Sp3	Sp3 transcription factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1319818	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8739986	Sp3	Sp3 transcription factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8739986	Sp3	Sp3 transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739986	Sp3	Sp3 transcription factor	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8739986	Sp3	Sp3 transcription factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8739986	Sp3	Sp3 transcription factor	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868
8739986	Sp3	Sp3 transcription factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8739994	Mrpl46	mitochondrial ribosomal protein L46	gene	DOID:10283	prostate cancer		ISO	RGD:1319287	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8739994	Mrpl46	mitochondrial ribosomal protein L46	gene	DOID:10283	prostate cancer		ISO	RGD:1319287	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8739994	Mrpl46	mitochondrial ribosomal protein L46	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8739994	Mrpl46	mitochondrial ribosomal protein L46	gene	DOID:4362	cervical cancer		ISO	RGD:1319287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8739994	Mrpl46	mitochondrial ribosomal protein L46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8739994	Mrpl46	mitochondrial ribosomal protein L46	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8740023	LOC102013799	chromosome unknown open reading frame, human C21orf91	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8740023	LOC102013799	chromosome unknown open reading frame, human C21orf91	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8740023	LOC102013799	chromosome unknown open reading frame, human C21orf91	gene	DOID:1115	sarcoma		ISO	RGD:1352771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8740023	LOC102013799	chromosome unknown open reading frame, human C21orf91	gene	DOID:1909	melanoma		ISO	RGD:1352771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8740023	LOC102013799	chromosome unknown open reading frame, human C21orf91	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740023	LOC102013799	chromosome unknown open reading frame, human C21orf91	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1605391	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:21522184|PMID:23033978|PMID:25356899|PMID:26264232|PMID:26325558|PMID:26757981
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:0060479	Shwachman-Diamond syndrome		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Shwachman syndrome	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:0080855	Parkinsonism		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:0081126	DeSanto-Shinawi syndrome		ISO	RGD:1605391	D	RGD:7240710	20190315	OMIM			
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:0081126	DeSanto-Shinawi syndrome		ISO	RGD:1605391	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DESANTO-SHINAWI SYNDROME | ClinVar Annotator: match by term: DeSanto-Shinawi syndrome | ClinVar Annotator: match by term: Desanto-Shinawi syndrome | ClinVar Annotator: match by term: Desanto-shinawi syndrome | ClinVar Annotator: match by term: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | ClinVar Annotator: match by term: WAC-related condition	PMID:23033978|PMID:25741868|PMID:26757981|PMID:28191890|PMID:28492532|PMID:33004838
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:10534	stomach cancer		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:1059	intellectual disability		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:10907	microcephaly		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:33004838
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:1115	sarcoma		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:11830	myopia		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:12849	autistic disorder		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:16199547|PMID:25741868|PMID:26264232|PMID:26757981|PMID:28492532
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:1324	lung cancer		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:1682	congenital heart disease		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:1826	epilepsy		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:23033978|PMID:25741868|PMID:28191890
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:2030	anxiety disorder		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:3087	gingivitis		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:3275	thymoma		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:4362	cervical cancer		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:480	movement disease		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:5041	esophageal cancer		ISO	RGD:1605391	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:535	sleep disorder		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:33004838
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:540	strabismus		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:543	dystonia		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:16199547|PMID:26264232|PMID:26757981|PMID:28492532
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:630	genetic disease		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23033978|PMID:25741868|PMID:28492532
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9001581	Constipation		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1605391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28319090
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9003132	Sialorrhea		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9003507	Premature Birth		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9003591	Telecanthus		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9003816	Macrocephaly		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:33004838
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605391	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9007573	Flatfoot		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9007661	Dwarfism		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:26264232
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9008023	Memory Disorders		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23033978|PMID:25741868|PMID:28191890
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9008622	Adrenal Insufficiency		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal insufficiency	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
8740038	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9840	esotropia		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esodeviation	PMID:25741868
8740059	Slc68a1	solute carrier family 68 member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8740059	Slc68a1	solute carrier family 68 member 1	gene	DOID:1115	sarcoma		ISO	RGD:1319594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8740059	Slc68a1	solute carrier family 68 member 1	gene	DOID:1909	melanoma		ISO	RGD:1319594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8740059	Slc68a1	solute carrier family 68 member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8740059	Slc68a1	solute carrier family 68 member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8740059	Slc68a1	solute carrier family 68 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8740059	Slc68a1	solute carrier family 68 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8740059	Slc68a1	solute carrier family 68 member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	
8740059	Slc68a1	solute carrier family 68 member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1319594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8740086	Fahd1	FAH domain containing oxaloacetate decarboxylase 1	gene	DOID:1909	melanoma		ISO	RGD:1348488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8740086	Fahd1	FAH domain containing oxaloacetate decarboxylase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8740086	Fahd1	FAH domain containing oxaloacetate decarboxylase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348488	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8740086	Fahd1	FAH domain containing oxaloacetate decarboxylase 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1348488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8740092	Ebf4	EBF transcription factor 4	gene	DOID:0080600	COVID-19		ISO	RGD:1625812	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8740092	Ebf4	EBF transcription factor 4	gene	DOID:1115	sarcoma		ISO	RGD:1625812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8740092	Ebf4	EBF transcription factor 4	gene	DOID:4362	cervical cancer		ISO	RGD:1625812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8740092	Ebf4	EBF transcription factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1625812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740092	Ebf4	EBF transcription factor 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1625812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8740092	Ebf4	EBF transcription factor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1625812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8740113	Wdr44	WD repeat domain 44	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	PMID:25741868|PMID:39235309
8740113	Wdr44	WD repeat domain 44	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8740113	Wdr44	WD repeat domain 44	gene	DOID:0050581	brachydactyly		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:39235309
8740113	Wdr44	WD repeat domain 44	gene	DOID:0050847	sleep apnea		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:25741868|PMID:39235309
8740113	Wdr44	WD repeat domain 44	gene	DOID:0060249	scoliosis		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
8740113	Wdr44	WD repeat domain 44	gene	DOID:0060340	ciliopathy		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliopathy	PMID:25741868|PMID:38191484
8740113	Wdr44	WD repeat domain 44	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:39235309
8740113	Wdr44	WD repeat domain 44	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:25741868|PMID:39235309
8740113	Wdr44	WD repeat domain 44	gene	DOID:10907	microcephaly		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:39235309
8740113	Wdr44	WD repeat domain 44	gene	DOID:11111	hydronephrosis		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868|PMID:39235309
8740113	Wdr44	WD repeat domain 44	gene	DOID:11383	cryptorchidism		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
8740113	Wdr44	WD repeat domain 44	gene	DOID:1324	lung cancer		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8740113	Wdr44	WD repeat domain 44	gene	DOID:1909	melanoma		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8740113	Wdr44	WD repeat domain 44	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8740113	Wdr44	WD repeat domain 44	gene	DOID:2340	craniosynostosis		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:39235309
8740113	Wdr44	WD repeat domain 44	gene	DOID:3144	cutis laxa		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:25741868|PMID:39235309
8740113	Wdr44	WD repeat domain 44	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868|PMID:39235309
8740113	Wdr44	WD repeat domain 44	gene	DOID:4362	cervical cancer		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8740113	Wdr44	WD repeat domain 44	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8740113	Wdr44	WD repeat domain 44	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740113	Wdr44	WD repeat domain 44	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8740113	Wdr44	WD repeat domain 44	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:39235309
8740113	Wdr44	WD repeat domain 44	gene	DOID:9001510	Funnel Chest		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
8740113	Wdr44	WD repeat domain 44	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868|PMID:39235309
8740113	Wdr44	WD repeat domain 44	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8740113	Wdr44	WD repeat domain 44	gene	DOID:9005077	Joint Instability		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:39235309
8740113	Wdr44	WD repeat domain 44	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:39235309
8740113	Wdr44	WD repeat domain 44	gene	DOID:9005616	Micrognathism		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:39235309
8740113	Wdr44	WD repeat domain 44	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8740113	Wdr44	WD repeat domain 44	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:39235309
8740113	Wdr44	WD repeat domain 44	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	PMID:25741868|PMID:39235309
8740113	Wdr44	WD repeat domain 44	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8740113	Wdr44	WD repeat domain 44	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8740142	Arpc5l	actin related protein 2/3 complex subunit 5 like	gene	DOID:1324	lung cancer		ISO	RGD:1318888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8740142	Arpc5l	actin related protein 2/3 complex subunit 5 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1318888	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8740142	Arpc5l	actin related protein 2/3 complex subunit 5 like	gene	DOID:9256	colorectal cancer		ISO	RGD:1318888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8740154	Rab25	RAB25, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8740154	Rab25	RAB25, member RAS oncogene family	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1318219	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577
8740154	Rab25	RAB25, member RAS oncogene family	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8740154	Rab25	RAB25, member RAS oncogene family	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318219	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8740154	Rab25	RAB25, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740170	Rbbp4	RB binding protein 4, chromatin remodeling factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8740170	Rbbp4	RB binding protein 4, chromatin remodeling factor	gene	DOID:10534	stomach cancer		ISO	RGD:1323349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8740170	Rbbp4	RB binding protein 4, chromatin remodeling factor	gene	DOID:1909	melanoma		ISO	RGD:1323349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8740170	Rbbp4	RB binding protein 4, chromatin remodeling factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8740170	Rbbp4	RB binding protein 4, chromatin remodeling factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740170	Rbbp4	RB binding protein 4, chromatin remodeling factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8740170	Rbbp4	RB binding protein 4, chromatin remodeling factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8740188	CTCF	CCCTC-binding factor	gene	DOID:0050671	female breast cancer	disease_progression	ISO	RGD:733105	D	RGD:9068941	20220211	RGD		DNA:missense mutation, silent mutation:Q216H, S1455S, breast (human)	PMID:32435142|REF_RGD_ID:151356743
8740188	Ctcf	CCCTC-binding factor	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:0050902	medulloblastoma		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma, desmoplastic	PMID:24130125|PMID:27993330|PMID:37882064
8740188	Ctcf	CCCTC-binding factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:733105	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916
8740188	Ctcf	CCCTC-binding factor	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:18654629|PMID:19563753|PMID:22354838|PMID:23746550|PMID:28135719|PMID:28619046
8740188	Ctcf	CCCTC-binding factor	gene	DOID:0060826	syndromic X-linked intellectual disability Shashi type		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Shashi type	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:0060857	septooptic dysplasia		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Septo-optic dysplasia sequence	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:0070051	autosomal dominant intellectual developmental disorder 21		ISO	RGD:733105	D	RGD:7240710	20180130	OMIM			
8740188	Ctcf	CCCTC-binding factor	gene	DOID:0070051	autosomal dominant intellectual developmental disorder 21		ISO	RGD:733105	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: CTCF-Related Disorder | ClinVar Annotator: match by term: CTCF-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 21 | ClinVar Annotator: match by term: intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	PMID:25741868|PMID:28492532|PMID:29076501|PMID:31239556|PMID:33004838|PMID:34657170|PMID:35982159|PMID:36454652|PMID:36672771|PMID:40118069
8740188	Ctcf	CCCTC-binding factor	gene	DOID:0080144	childhood acute lymphocytic leukemia	disease_progression	ISO	RGD:733105	D	RGD:9068941	20220217	RGD		mRNA, protein:increased expression:bone marrow, blood (human)	PMID:24393203|REF_RGD_ID:151356757
8740188	Ctcf	CCCTC-binding factor	gene	DOID:0080653	urolithiasis		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urolithiasis	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:0080798	myeloid leukemia associated with Down Syndrome		ISO	RGD:733105	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome	PMID:27993330
8740188	Ctcf	CCCTC-binding factor	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:10534	stomach cancer		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:1059	intellectual disability		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:23746550|PMID:25741868|PMID:28619046|PMID:30893510|PMID:31239556|PMID:33644862|PMID:34374989|PMID:36454652
8740188	Ctcf	CCCTC-binding factor	gene	DOID:10907	microcephaly		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:10908	hydrocephalus		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus | ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:1143	exotropia		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:11782	astigmatism		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:11830	myopia		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:12270	coloboma		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:1324	lung cancer		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8740188	Ctcf	CCCTC-binding factor	gene	DOID:1612	breast cancer	severity	ISO	RGD:733105	D	RGD:9068941	20220217	RGD		protein:alternative form, increased expression:breast tumor (human)	PMID:19737964|REF_RGD_ID:151356756
8740188	Ctcf	CCCTC-binding factor	gene	DOID:1826	epilepsy		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:1909	melanoma		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:31239556
8740188	Ctcf	CCCTC-binding factor	gene	DOID:2030	anxiety disorder		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:2513	basal cell carcinoma		ISO	RGD:733105	D	RGD:9068941	20220210	RGD		DNA:mutations:multiple (human)	PMID:27974201|REF_RGD_ID:151356739
8740188	Ctcf	CCCTC-binding factor	gene	DOID:2841	asthma		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:3151	skin squamous cell carcinoma		ISO	RGD:733105	D	RGD:9068941	20220210	RGD		DNA:mutations:multiple (human)	PMID:27974201|REF_RGD_ID:151356739
8740188	Ctcf	CCCTC-binding factor	gene	DOID:3275	thymoma		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:3459	breast carcinoma		ISO	RGD:733105	D	RGD:9068941	20220217	RGD		protein:altered expression:breast tumor (human)	PMID:15354217|REF_RGD_ID:151356910
8740188	Ctcf	CCCTC-binding factor	gene	DOID:3873	desmoplastic/nodular medulloblastoma		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma	PMID:24130125|PMID:27993330|PMID:37882064
8740188	Ctcf	CCCTC-binding factor	gene	DOID:4051	alveolar rhabdomyosarcoma		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma	PMID:24130125|PMID:27993330|PMID:37882064
8740188	Ctcf	CCCTC-binding factor	gene	DOID:4362	cervical cancer		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:4481	allergic rhinitis		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:535	sleep disorder		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:540	strabismus		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:733105	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28671688
8740188	Ctcf	CCCTC-binding factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:630	genetic disease		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18654629|PMID:19563753|PMID:22354838|PMID:23746550|PMID:25533962|PMID:25741868|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28529057|PMID:28619046|PMID:31239556|PMID:31785789|PMID:33004838|PMID:36454652
8740188	Ctcf	CCCTC-binding factor	gene	DOID:630	genetic disease		ISO	RGD:733105	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18654629|PMID:19563753|PMID:22354838|PMID:23746550|PMID:25533962|PMID:25741868|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28529057|PMID:28619046|PMID:31239556|PMID:31785789|PMID:33004838|PMID:35982159|PMID:36454652|PMID:36672771
8740188	Ctcf	CCCTC-binding factor	gene	DOID:674	cleft palate		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:8923	skin melanoma		ISO	RGD:733105	D	RGD:9068941	20220210	RGD		DNA:mutations:multiple (human)	PMID:27974201|REF_RGD_ID:151356739
8740188	Ctcf	CCCTC-binding factor	gene	DOID:8927	learning disability		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9000343	Vision Disorders		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9000351	Diarrhea 9		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9001031	Retrognathia		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9001581	Constipation		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:733105	D	RGD:9068941	20220217	RGD		human breast cancer cells in mouse model	PMID:21896759|REF_RGD_ID:151356745
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9002569	Overweight		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9003133	Hypertelorism		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9003816	Macrocephaly		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9004147	Anosmia		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anosmia	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9004538	Hearing Loss		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9005077	Joint Instability		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9005466	Language Development Disorders		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9005616	Micrognathism		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9007097	Microcephaly with Simplified Gyral Pattern		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Simplified gyral pattern	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9007661	Dwarfism		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9007748	Retinal Neovascularization		ISO	RGD:733106	D	RGD:9068941	20220217	RGD			PMID:21896759|REF_RGD_ID:151356745
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9650	pathologic nystagmus		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9834	hyperopia		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9840	esotropia		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868
8740188	Ctcf	CCCTC-binding factor	gene	DOID:9970	obesity		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
8740232	Slit2	slit guidance ligand 2	gene	DOID:0050144	Kartagener syndrome		ISO	RGD:735484	D	RGD:9068941	20220825	MouseDO			
8740232	Slit2	slit guidance ligand 2	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:735484	D	RGD:9068941	20220825	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
8740232	Slit2	slit guidance ligand 2	gene	DOID:0050925	small intestine carcinoid neuroendocrine tumor		ISO	RGD:69310	D	RGD:9068941	20250724	RGD		mRNA:decreased expression:small intestine tumor	PMID:29154080|REF_RGD_ID:617256274
8740232	Slit2	slit guidance ligand 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8740232	Slit2	slit guidance ligand 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:733021	D	RGD:9068941	20230330	RGD		associated with heart valve disease;protein:increased expression:right atrial myocardium	PMID:33236535|REF_RGD_ID:242905189
8740232	Slit2	slit guidance ligand 2	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:733021	D	RGD:9068941	20220210	CTD		CTD Direct Evidence: therapeutic	PMID:33120864
8740232	Slit2	slit guidance ligand 2	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract	PMID:26026792
8740232	Slit2	slit guidance ligand 2	gene	DOID:0080745	polymyositis		ISO	RGD:733021	D	RGD:9068941	20230330	RGD		mRNA,protein:increased expression:muscle	PMID:32213157|REF_RGD_ID:243048425
8740232	Slit2	slit guidance ligand 2	gene	DOID:10223	dermatomyositis		ISO	RGD:733021	D	RGD:9068941	20230330	RGD		mRNA,protein:increased expression:muscle	PMID:32213157|REF_RGD_ID:243048425
8740232	Slit2	slit guidance ligand 2	gene	DOID:10534	stomach cancer		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8740232	Slit2	slit guidance ligand 2	gene	DOID:1115	sarcoma		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8740232	Slit2	slit guidance ligand 2	gene	DOID:13207	proliferative diabetic retinopathy		ISO	RGD:733021	D	RGD:9068941	20230330	RGD		associated with eye disease; protein:increased expression:vitreous	PMID:28973045|REF_RGD_ID:243048421
8740232	Slit2	slit guidance ligand 2	gene	DOID:1324	lung cancer		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8740232	Slit2	slit guidance ligand 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:735484	D	RGD:9068941	20230330	RGD			PMID:25691540|REF_RGD_ID:243048427
8740232	Slit2	slit guidance ligand 2	gene	DOID:1909	melanoma		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8740232	Slit2	slit guidance ligand 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:69310	D	RGD:9068941	20230330	RGD		protein:increased expression:brain, astrocyte	PMID:27686659|REF_RGD_ID:243048429
8740232	Slit2	slit guidance ligand 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:69310	D	RGD:9068941	20230330	RGD		protein:increased expression:hippocampus	PMID:26764532|REF_RGD_ID:11573340
8740232	Slit2	slit guidance ligand 2	gene	DOID:2975	cystic kidney disease		ISO	RGD:735484	D	RGD:9068941	20220825	MouseDO			
8740232	Slit2	slit guidance ligand 2	gene	DOID:3275	thymoma		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8740232	Slit2	slit guidance ligand 2	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:733021	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20153733
8740232	Slit2	slit guidance ligand 2	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:69310	D	RGD:9068941	20230406	RGD		mRNA:increased expression:lung	PMID:19944214|REF_RGD_ID:243048459
8740232	Slit2	slit guidance ligand 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8740232	Slit2	slit guidance ligand 2	gene	DOID:4362	cervical cancer		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8740232	Slit2	slit guidance ligand 2	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:69310	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney, glomerulus	PMID:15215188|REF_RGD_ID:2316132
8740232	Slit2	slit guidance ligand 2	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:733021	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941188
8740232	Slit2	slit guidance ligand 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740232	Slit2	slit guidance ligand 2	gene	DOID:630	genetic disease		ISO	RGD:733021	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8740232	Slit2	slit guidance ligand 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733021	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19100240
8740232	Slit2	slit guidance ligand 2	gene	DOID:8947	diabetic retinopathy		ISO	RGD:69310	D	RGD:9068941	20230330	RGD		mRNA,protein:increased expression:retina	PMID:28973045|REF_RGD_ID:243048421
8740232	Slit2	slit guidance ligand 2	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:69310	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:spinal cord	PMID:19783284|REF_RGD_ID:2316127
8740232	Slit2	slit guidance ligand 2	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:69310	D	RGD:9068941	20230401	RGD		mRNA,protein:decreased expression:spinal cord:	PMID:27893610|REF_RGD_ID:243048440
8740232	Slit2	slit guidance ligand 2	gene	DOID:9000998	Brain Injuries	exacerbates	ISO	RGD:69310	D	RGD:9068941	20230401	RGD			PMID:26550694|REF_RGD_ID:243048437
8740232	Slit2	slit guidance ligand 2	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:735484	D	RGD:9068941	20230330	RGD		protein:increased expression:left ventricle	PMID:33236535|REF_RGD_ID:242905189
8740232	Slit2	slit guidance ligand 2	gene	DOID:9003676	Brain Hypoxia-Ischemia	treatment	ISO	RGD:69310	D	RGD:9068941	20230330	RGD			PMID:31356825|REF_RGD_ID:242905191
8740232	Slit2	slit guidance ligand 2	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:69310	D	RGD:9068941	20230401	RGD		mRNA:increased expression:carotid artery	PMID:26841069|REF_RGD_ID:243048443
8740232	Slit2	slit guidance ligand 2	gene	DOID:9006618	Liver Metastasis		ISO	RGD:69310	D	RGD:9068941	20250724	RGD		mRNA:decreased expression:liver tumor	PMID:29154080|REF_RGD_ID:617256274
8740232	Slit2	slit guidance ligand 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8740232	Slit2	slit guidance ligand 2	gene	DOID:9008104	Cancer Pain	ameliorates	ISO	RGD:69310	D	RGD:9068941	20230401	RGD			PMID:26738857|REF_RGD_ID:243048441
8740232	Slit2	slit guidance ligand 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8740232	Slit2	slit guidance ligand 2	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:735484	D	RGD:9068941	20220825	MouseDO			
8740288	Rfx5	regulatory factor X5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8740288	Rfx5	regulatory factor X5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8740288	Rfx5	regulatory factor X5	gene	DOID:10534	stomach cancer		ISO	RGD:1323259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8740288	Rfx5	regulatory factor X5	gene	DOID:3275	thymoma		ISO	RGD:1323259	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8740288	Rfx5	regulatory factor X5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740288	Rfx5	regulatory factor X5	gene	DOID:5812	MHC class II deficiency		ISO	RGD:1323259	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency	PMID:10079298|PMID:12368908|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26193622|PMID:28492532|PMID:32888943|PMID:7744245|PMID:9401005|PMID:9536098
8740288	Rfx5	regulatory factor X5	gene	DOID:5812	MHC class II deficiency		ISO	RGD:1323259	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency	PMID:10079298|PMID:12368908|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26193622|PMID:28492532|PMID:29527204|PMID:30084052|PMID:30170160|PMID:32888943|PMID:7744245|PMID:9401005|PMID:9536098
8740288	Rfx5	regulatory factor X5	gene	DOID:5812	MHC class II deficiency		ISO	RGD:1323259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MHC class II deficiency	PMID:10079298|PMID:10395672|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26193622|PMID:28492532|PMID:32135276|PMID:32888943|PMID:7744245|PMID:9401005|PMID:9536098
8740288	Rfx5	regulatory factor X5	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1323259	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Bare Lymphocyte Syndrome	PMID:10079298|PMID:16199547|PMID:25741868|PMID:28492532|PMID:7744245|PMID:9401005
8740288	Rfx5	regulatory factor X5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8740288	Rfx5	regulatory factor X5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8740288	Rfx5	regulatory factor X5	gene	DOID:9008744	MHC CLASS II DEFICIENCY 3		ISO	RGD:1323259	D	RGD:7240710	20240619	OMIM			
8740288	Rfx5	regulatory factor X5	gene	DOID:9008744	MHC CLASS II DEFICIENCY 3		ISO	RGD:1323259	D	RGD:8554872	20240618	ClinVar		ClinVar Annotator: match by term: MHC CLASS II DEFICIENCY 3 | ClinVar Annotator: match by term: MHC class II deficiency 3	PMID:10079298|PMID:25741868|PMID:28492532|PMID:30084052|PMID:30170160|PMID:32888943|PMID:37584719|PMID:7744245|PMID:9401005
8740288	Rfx5	regulatory factor X5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323259	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8740288	Rfx5	regulatory factor X5	gene	DOID:9009158	MHC CLASS II DEFICIENCY 1		ISO	RGD:1323259	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A | ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar Annotator: match by term: MHC class II deficiency 1	PMID:10079298|PMID:12368908|PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7744245|PMID:9401005
8740288	Rfx5	regulatory factor X5	gene	DOID:9009174	MHC CLASS II DEFICIENCY 5		ISO	RGD:1323259	D	RGD:7240710	20240821	OMIM			
8740317	Onecut2	one cut homeobox 2	gene	DOID:10534	stomach cancer		ISO	RGD:1354460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8740317	Onecut2	one cut homeobox 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8740317	Onecut2	one cut homeobox 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1354460	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8740317	Onecut2	one cut homeobox 2	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1354460	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	
8740317	Onecut2	one cut homeobox 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1354460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29581250
8740345	Esrrg	estrogen related receptor gamma	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8740345	Esrrg	estrogen related receptor gamma	gene	DOID:0060058	lymphoma		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8740345	Esrrg	estrogen related receptor gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8740345	Esrrg	estrogen related receptor gamma	gene	DOID:1115	sarcoma		ISO	RGD:1349366	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8740345	Esrrg	estrogen related receptor gamma	gene	DOID:3070	high grade glioma		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8740345	Esrrg	estrogen related receptor gamma	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8740345	Esrrg	estrogen related receptor gamma	gene	DOID:480	movement disease		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
8740345	Esrrg	estrogen related receptor gamma	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1349366	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
8740345	Esrrg	estrogen related receptor gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740345	Esrrg	estrogen related receptor gamma	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8740345	Esrrg	estrogen related receptor gamma	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1349366	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35220427
8740345	Esrrg	estrogen related receptor gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8740363	Pef1	penta-EF-hand domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1605152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8740372	Lat	linker for activation of T cells	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8740372	Lat	linker for activation of T cells	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1342944	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
8740372	Lat	linker for activation of T cells	gene	DOID:0080356	IgG4-related disease		ISO	RGD:734455	D	RGD:9068941	20220825	MouseDO			
8740372	Lat	linker for activation of T cells	gene	DOID:0111983	immunodeficiency 52		ISO	RGD:1342944	D	RGD:7240710	20190315	OMIM			
8740372	Lat	linker for activation of T cells	gene	DOID:0111983	immunodeficiency 52		ISO	RGD:1342944	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 52 | ClinVar Annotator: match by term: Immunodeficiency 52 | ClinVar Annotator: match by term: LAT-related condition | ClinVar Annotator: match by term: Severe combined immunodeficiency due to LAT deficiency	PMID:25741868|PMID:28492532
8740372	Lat	linker for activation of T cells	gene	DOID:1909	melanoma		ISO	RGD:1342944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8740372	Lat	linker for activation of T cells	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8740372	Lat	linker for activation of T cells	gene	DOID:3602	toxic encephalopathy		ISO	RGD:1342944	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
8740372	Lat	linker for activation of T cells	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8740372	Lat	linker for activation of T cells	gene	DOID:409	liver disease		ISO	RGD:1342944	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
8740372	Lat	linker for activation of T cells	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8740372	Lat	linker for activation of T cells	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740372	Lat	linker for activation of T cells	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8740372	Lat	linker for activation of T cells	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8740372	Lat	linker for activation of T cells	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8740372	Lat	linker for activation of T cells	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8740390	Morn5	MORN repeat containing 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8740390	Morn5	MORN repeat containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1317107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:10534	stomach cancer		ISO	RGD:1344700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:1115	sarcoma		ISO	RGD:1344700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1553828	D	RGD:9068941	20220825	MouseDO			
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:1324	lung cancer		ISO	RGD:1344700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:1909	melanoma		ISO	RGD:1344700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:3275	thymoma		ISO	RGD:1344700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:4362	cervical cancer		ISO	RGD:1344700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1344700	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:8778	Crohn's disease		ISO	RGD:1344700	D	RGD:9068941	20221103	CTD		CTD Direct Evidence: marker/mechanism	PMID:36038634
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1344700	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1344700	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8740399	Pdlim5	PDZ and LIM domain 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1344700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8740437	Arl6ip5	ARF like GTPase 6 interacting protein 5	gene	DOID:0060001	withdrawal disorder		ISO	RGD:1344465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21600884
8740437	Arl6ip5	ARF like GTPase 6 interacting protein 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8740437	Arl6ip5	ARF like GTPase 6 interacting protein 5	gene	DOID:3070	high grade glioma		ISO	RGD:1344465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8740437	Arl6ip5	ARF like GTPase 6 interacting protein 5	gene	DOID:4362	cervical cancer		ISO	RGD:1344465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8740437	Arl6ip5	ARF like GTPase 6 interacting protein 5	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1344465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22452940
8740437	Arl6ip5	ARF like GTPase 6 interacting protein 5	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1344465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29545876
8740437	Arl6ip5	ARF like GTPase 6 interacting protein 5	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1344465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29545876
8740437	Arl6ip5	ARF like GTPase 6 interacting protein 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1344465	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8740447	Pigm	phosphatidylinositol glycan anchor biosynthesis class M	gene	DOID:11832	visual epilepsy		ISO	RGD:1346161	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:16767100
8740447	Pigm	phosphatidylinositol glycan anchor biosynthesis class M	gene	DOID:630	genetic disease		ISO	RGD:1346161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8740447	Pigm	phosphatidylinositol glycan anchor biosynthesis class M	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1346161	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16767100
8740447	Pigm	phosphatidylinositol glycan anchor biosynthesis class M	gene	DOID:9007061	Glycosylphosphatidylinositol Biosynthesis Defect 1		ISO	RGD:1346161	D	RGD:7240710	20230531	OMIM			
8740447	Pigm	phosphatidylinositol glycan anchor biosynthesis class M	gene	DOID:9007061	Glycosylphosphatidylinositol Biosynthesis Defect 1		ISO	RGD:1346161	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 | ClinVar Annotator: match by term: PIGM-related condition	PMID:25741868|PMID:28492532
8740453	Rpl13a	ribosomal protein L13a	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1351312	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8740453	Rpl13a	ribosomal protein L13a	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1351312	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:0050742	nicotine dependence		ISO	RGD:1347163	D	RGD:9068941	20240307	RGD		DNA:SNP, haplotype:exon: (rs10033119) (human)	PMID:22309839|REF_RGD_ID:402463945
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:0050830	peripheral artery disease		ISO	RGD:1347163	D	RGD:9068941	20200609	RGD			PMID:21468772|REF_RGD_ID:10448273
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:0051061	stroke		ISO	RGD:3198	D	RGD:9068941	20200609	RGD			PMID:10891620|REF_RGD_ID:1642319
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:0070309	absence epilepsy	treatment	ISO	RGD:3198	D	RGD:9068941	20241205	RGD			PMID:17331209|REF_RGD_ID:10448963
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:0080074	neural tube defect		ISO	RGD:1347163	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17400914
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:10763	hypertension		ISO	RGD:3198	D	RGD:9068941	20200609	RGD			PMID:15699473|REF_RGD_ID:1357410
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:1574	alcohol use disorder		ISO	RGD:3198	D	RGD:9068941	20250529	RGD		mRNA:increased expression:hippocampus	PMID:32057593|REF_RGD_ID:405096486
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:1596	depressive disorder		ISO	RGD:1347163	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9729278
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:1596	depressive disorder		ISO	RGD:3198	D	RGD:9068941	20200609	RGD			PMID:17265460|REF_RGD_ID:1642308
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:3198	D	RGD:9068941	20200609	RGD			PMID:19623606|PMID:21803058|REF_RGD_ID:10448284|REF_RGD_ID:10448937
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:1936	atherosclerosis		ISO	RGD:737212	D	RGD:9068941	20200609	RGD			PMID:21468772|REF_RGD_ID:10448273
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:2030	anxiety disorder		ISO	RGD:1347163	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11440811
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:2030	anxiety disorder	treatment	ISO	RGD:3198	D	RGD:9068941	20200609	RGD			PMID:21803058|REF_RGD_ID:10448284
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:2559	opiate dependence		ISO	RGD:1347163	D	RGD:9068941	20240307	RGD		DNA:SNP, haplotype:intron: (rs4691910) (human)	PMID:32757697|REF_RGD_ID:402463942
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:2559	opiate dependence	susceptibility	ISO	RGD:1347163	D	RGD:9068941	20240307	RGD		DNA:SNP, haplotype:enhancer: (rs4128839) (human)	PMID:31689297|REF_RGD_ID:402463939
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:1347163	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus	PMID:15337376|REF_RGD_ID:1642609
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:670	amphetamine abuse		ISO	RGD:1347163	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19566775
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:670	amphetamine abuse		ISO	RGD:1347163	D	RGD:9068941	20240307	RGD		DNA:SNP:intron: (rs7687423) (human)	PMID:19566775|REF_RGD_ID:402463941
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:809	cocaine abuse	susceptibility	ISO	RGD:1347163	D	RGD:9068941	20240307	RGD		DNA:SNP:intron: (rs4518200) (human)	PMID:33242852|REF_RGD_ID:402463938
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:8646	substance-induced psychosis		ISO	RGD:1347163	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19566775
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:9001109	Anorexia		ISO	RGD:3198	D	RGD:9068941	20200609	RGD		associated with Neoplasms;mRNA, protein:decreased expression:hypothalamus	PMID:17234300|REF_RGD_ID:10448965
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:3198	D	RGD:9068941	20200609	RGD			PMID:10320723|REF_RGD_ID:1642322
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:9002735	alcohol withdrawal syndrome		ISO	RGD:3198	D	RGD:9068941	20240321	RGD		mRNA:decreased expression:hippocampus, cerebral cortex (rat)	PMID:20028355|REF_RGD_ID:10448926
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3198	D	RGD:9068941	20200609	RGD			PMID:18201831|REF_RGD_ID:10448967
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:9006302	Binge Drinking		ISO	RGD:737212	D	RGD:9068941	20240321	RGD		protein:decreased expression:central amygdaloid nucleus (mouse)	PMID:22218088|REF_RGD_ID:405096664
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:9006302	Binge Drinking	ameliorates	ISO	RGD:737212	D	RGD:9068941	20240307	RGD			PMID:30647448|REF_RGD_ID:402463940
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:9007090	Experimental Seizures		ISO	RGD:3198	D	RGD:9068941	20241214	RGD		mRNA:decreased expression:brain	PMID:10521595|REF_RGD_ID:1642320
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:3198	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:heart left ventricle	PMID:17562528|REF_RGD_ID:1642307
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:9007993	Dehydration		ISO	RGD:3198	D	RGD:9068941	20200609	RGD		protein:increased expression:hypothalamus	PMID:16728491|REF_RGD_ID:1642311
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:9008251	Toothache		ISO	RGD:1347163	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18809749
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:9970	obesity		ISO	RGD:1347163	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20975297
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:9970	obesity		ISO	RGD:3198	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hypothalamus	PMID:17447163|REF_RGD_ID:10448938
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:9970	obesity		ISO	RGD:737212	D	RGD:9068941	20220825	MouseDO		OMIM:601665	
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:9970	obesity	susceptibility	ISO	RGD:737212	D	RGD:9068941	20200609	RGD		associated with Hyperinsulinemia	PMID:9861026|REF_RGD_ID:1642306
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:9976	heroin dependence		ISO	RGD:1347163	D	RGD:9068941	20240307	RGD		DNA:SNP:intron: (rs4518200) (human)	PMID:24845178|REF_RGD_ID:401976498
8740478	Npy1r	neuropeptide Y receptor Y1	gene	DOID:9976	heroin dependence	disease_progression	ISO	RGD:732227	D	RGD:9068941	20250802	RGD		DNA:SNP:intergenic:rs4234955	PMID:29465008|REF_RGD_ID:402463944
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:732520	D	RGD:9068941	20240229	RGD		DNA:SNP::(rs6486120) (human)	PMID:20554694|REF_RGD_ID:401976551
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:0081088	chronic myelogenous leukemia, BCR-ABL1 positive		ISO	RGD:732520	D	RGD:9068941	20260409	CTD		CTD Direct Evidence: marker/mechanism	PMID:16999817
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:1115	sarcoma		ISO	RGD:732520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:11718	antidepressant type abuse		ISO	RGD:62295	D	RGD:9068941	20240627	RGD		mRNA:increased expression:hippocampal formation (mouse)	PMID:15994025|REF_RGD_ID:405866348
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:13580	cholestasis		ISO	RGD:62003	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cholangiocyte	PMID:21757639|REF_RGD_ID:10043349
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:3312	bipolar disorder	sexual_dimorphism	ISO	RGD:732520	D	RGD:9068941	20240627	RGD		associated with Alcohol-related disorders;DNA:SNP::(rs11600996) (Human)	PMID:30121446|REF_RGD_ID:405866353
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:4362	cervical cancer		ISO	RGD:732520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:732520	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:732520	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:809	cocaine abuse		ISO	RGD:62295	D	RGD:9068941	20240627	RGD		mRNA:decreased expression:caudate-putamen (mouse)	PMID:15994025|REF_RGD_ID:405866348
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:9002644	Premature Aging		ISO	RGD:62295	D	RGD:9068941	20200609	RGD			PMID:16847346|REF_RGD_ID:10043345
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:9002735	alcohol withdrawal syndrome	severity	ISO	RGD:732520	D	RGD:9068941	20240302	RGD		mRNA:decreased expression:peripheral blood mononuclear cells (human)	PMID:20735373|REF_RGD_ID:401976556
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:62003	D	RGD:9068941	20200609	RGD		protein:increased expression:pineal gland	PMID:23336172|REF_RGD_ID:10043348
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:732520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:40720646
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:62003	D	RGD:9068941	20200609	RGD			PMID:18624957|REF_RGD_ID:2301030
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:732520	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:732520	D	RGD:9068941	20230907	CTD		CTD Direct Evidence: therapeutic	PMID:36602574
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:9007456	Female Infertility		ISO	RGD:732520	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:20200203
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:732520	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:24652800
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:9278	hyperargininemia		ISO	RGD:732520	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:27056296
8740501	Bmal1	basic helix-loop-helix ARNT like 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:62295	D	RGD:9068941	20220825	MouseDO			
8740540	Med23	mediator complex subunit 23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8740540	Med23	mediator complex subunit 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8740540	Med23	mediator complex subunit 23	gene	DOID:0060058	lymphoma		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8740540	Med23	mediator complex subunit 23	gene	DOID:0081190	autosomal recessive intellectual developmental disorder 18		ISO	RGD:1316995	D	RGD:7240710	20180130	OMIM			
8740540	Med23	mediator complex subunit 23	gene	DOID:0081190	autosomal recessive intellectual developmental disorder 18		ISO	RGD:1316995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 18, WITH OR WITHOUT EPILEPSY | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 18 | ClinVar Annotator: match by term: MED23-related condition	PMID:25741868|PMID:25845469|PMID:27124789|PMID:28492532
8740540	Med23	mediator complex subunit 23	gene	DOID:0111406	Fraser syndrome 3		ISO	RGD:1316995	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fraser syndrome 3	
8740540	Med23	mediator complex subunit 23	gene	DOID:1059	intellectual disability		ISO	RGD:1316995	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8740540	Med23	mediator complex subunit 23	gene	DOID:10907	microcephaly		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8740540	Med23	mediator complex subunit 23	gene	DOID:1115	sarcoma		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8740540	Med23	mediator complex subunit 23	gene	DOID:12849	autistic disorder		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
8740540	Med23	mediator complex subunit 23	gene	DOID:1324	lung cancer		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8740540	Med23	mediator complex subunit 23	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
8740540	Med23	mediator complex subunit 23	gene	DOID:3275	thymoma		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8740540	Med23	mediator complex subunit 23	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8740540	Med23	mediator complex subunit 23	gene	DOID:4362	cervical cancer		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8740540	Med23	mediator complex subunit 23	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
8740540	Med23	mediator complex subunit 23	gene	DOID:5041	esophageal cancer		ISO	RGD:1316995	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8740540	Med23	mediator complex subunit 23	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8740540	Med23	mediator complex subunit 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8740540	Med23	mediator complex subunit 23	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8740540	Med23	mediator complex subunit 23	gene	DOID:630	genetic disease		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:31164858
8740540	Med23	mediator complex subunit 23	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8740540	Med23	mediator complex subunit 23	gene	DOID:8927	learning disability		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
8740540	Med23	mediator complex subunit 23	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	
8740540	Med23	mediator complex subunit 23	gene	DOID:9003507	Premature Birth		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
8740540	Med23	mediator complex subunit 23	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8740540	Med23	mediator complex subunit 23	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8740540	Med23	mediator complex subunit 23	gene	DOID:9007661	Dwarfism		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8740540	Med23	mediator complex subunit 23	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8740540	Med23	mediator complex subunit 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8740540	Med23	mediator complex subunit 23	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8740575	Mcidas	multiciliate differentiation and DNA synthesis associated cell cycle protein	gene	DOID:0110599	primary ciliary dyskinesia 3		ISO	RGD:6771255	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia 3	
8740575	Mcidas	multiciliate differentiation and DNA synthesis associated cell cycle protein	gene	DOID:0111855	primary ciliary dyskinesia 42		ISO	RGD:6771255	D	RGD:7240710	20200101	OMIM			
8740575	Mcidas	multiciliate differentiation and DNA synthesis associated cell cycle protein	gene	DOID:0111855	primary ciliary dyskinesia 42		ISO	RGD:6771255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 42 | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 42 | ClinVar Annotator: match by term: MCIDAS-related condition	PMID:24033266|PMID:25048963|PMID:25741868|PMID:28492532|PMID:8813877
8740575	Mcidas	multiciliate differentiation and DNA synthesis associated cell cycle protein	gene	DOID:630	genetic disease		ISO	RGD:6771255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8740575	Mcidas	multiciliate differentiation and DNA synthesis associated cell cycle protein	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:6771255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia	PMID:25741868|PMID:28492532
8740575	Mcidas	multiciliate differentiation and DNA synthesis associated cell cycle protein	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:6771255	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:24033266|PMID:25048963|PMID:25741868|PMID:28492532|PMID:8813877|PMID:9536098
8740587	Tmem245	transmembrane protein 245	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8740587	Tmem245	transmembrane protein 245	gene	DOID:10534	stomach cancer		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8740587	Tmem245	transmembrane protein 245	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8740587	Tmem245	transmembrane protein 245	gene	DOID:1324	lung cancer		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8740587	Tmem245	transmembrane protein 245	gene	DOID:1909	melanoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8740587	Tmem245	transmembrane protein 245	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8740587	Tmem245	transmembrane protein 245	gene	DOID:3275	thymoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8740587	Tmem245	transmembrane protein 245	gene	DOID:4362	cervical cancer		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8740587	Tmem245	transmembrane protein 245	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8740587	Tmem245	transmembrane protein 245	gene	DOID:5041	esophageal cancer		ISO	RGD:1319034	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8740587	Tmem245	transmembrane protein 245	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740587	Tmem245	transmembrane protein 245	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8740587	Tmem245	transmembrane protein 245	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8740587	Tmem245	transmembrane protein 245	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8740587	Tmem245	transmembrane protein 245	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8740587	Tmem245	transmembrane protein 245	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8740610	Lrrc8e	leucine rich repeat containing 8 VRAC subunit E	gene	DOID:2843	long QT syndrome		ISO	RGD:1604796	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8740610	Lrrc8e	leucine rich repeat containing 8 VRAC subunit E	gene	DOID:4362	cervical cancer		ISO	RGD:1604796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8740610	Lrrc8e	leucine rich repeat containing 8 VRAC subunit E	gene	DOID:5041	esophageal cancer		ISO	RGD:1604796	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8740620	Lin52	lin-52 DREAM MuvB core complex component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315617	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8740636	Mafg	MAF bZIP transcription factor G	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8740636	Mafg	MAF bZIP transcription factor G	gene	DOID:0080600	COVID-19		ISO	RGD:1352039	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8740636	Mafg	MAF bZIP transcription factor G	gene	DOID:1852	intrahepatic cholestasis		ISO	RGD:1352039	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20146260
8740636	Mafg	MAF bZIP transcription factor G	gene	DOID:2394	ovarian cancer		ISO	RGD:1352039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
8740642	Lzts3	leucine zipper tumor suppressor family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:737584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8740642	Lzts3	leucine zipper tumor suppressor family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740642	Lzts3	leucine zipper tumor suppressor family member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8740642	Lzts3	leucine zipper tumor suppressor family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8740642	Lzts3	leucine zipper tumor suppressor family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8740642	Lzts3	leucine zipper tumor suppressor family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8740660	Gpr156	G protein-coupled receptor 156	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8740660	Gpr156	G protein-coupled receptor 156	gene	DOID:0070675	autosomal recessive nonsyndromic deafness 121		ISO	RGD:736790	D	RGD:7240710	20231101	OMIM			
8740660	Gpr156	G protein-coupled receptor 156	gene	DOID:0070675	autosomal recessive nonsyndromic deafness 121		ISO	RGD:736790	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 121	
8740660	Gpr156	G protein-coupled receptor 156	gene	DOID:10534	stomach cancer		ISO	RGD:736790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8740660	Gpr156	G protein-coupled receptor 156	gene	DOID:1909	melanoma		ISO	RGD:736790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8740660	Gpr156	G protein-coupled receptor 156	gene	DOID:4362	cervical cancer		ISO	RGD:736790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8740660	Gpr156	G protein-coupled receptor 156	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740660	Gpr156	G protein-coupled receptor 156	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8740679	Per1	period circadian regulator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8740679	Per1	period circadian regulator 1	gene	DOID:0060001	withdrawal disorder		ISO	RGD:1349050	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20738730
8740679	Per1	period circadian regulator 1	gene	DOID:0081088	chronic myelogenous leukemia, BCR-ABL1 positive		ISO	RGD:1349050	D	RGD:9068941	20260409	CTD		CTD Direct Evidence: marker/mechanism	PMID:16999817
8740679	Per1	period circadian regulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8740679	Per1	period circadian regulator 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1552867	D	RGD:9068941	20220825	MouseDO		OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003	
8740679	Per1	period circadian regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8740679	Per1	period circadian regulator 1	gene	DOID:1115	sarcoma		ISO	RGD:1349050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8740679	Per1	period circadian regulator 1	gene	DOID:11718	antidepressant type abuse		ISO	RGD:1552867	D	RGD:9068941	20240627	RGD		mRNA:decreased expression: hippocampal formation, caudate-putamen (mouse)	PMID:15994025|REF_RGD_ID:405866348
8740679	Per1	period circadian regulator 1	gene	DOID:12849	autistic disorder		ISO	RGD:1349050	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17264841
8740679	Per1	period circadian regulator 1	gene	DOID:1324	lung cancer		ISO	RGD:1349050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8740679	Per1	period circadian regulator 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:727863	D	RGD:9068941	20241010	RGD		mRNA:altered expression: arcuate nucleus of hypothalamus	PMID:15009656|REF_RGD_ID:407572515
8740679	Per1	period circadian regulator 1	gene	DOID:1909	melanoma		ISO	RGD:1349050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8740679	Per1	period circadian regulator 1	gene	DOID:3070	high grade glioma		ISO	RGD:1349050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8740679	Per1	period circadian regulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8740679	Per1	period circadian regulator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349050	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8740679	Per1	period circadian regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740679	Per1	period circadian regulator 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1349050	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8740679	Per1	period circadian regulator 1	gene	DOID:809	cocaine abuse		ISO	RGD:1552867	D	RGD:9068941	20240627	RGD		mRNA:increased expression:hippocampal formation, caudate-putamen (mouse)	PMID:15994025|REF_RGD_ID:405866348
8740679	Per1	period circadian regulator 1	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:727863	D	RGD:9068941	20240718	RGD		associated with alcohol use disorder;mRNA:altered expression: arcuate nucleus of hypothalamus, suprachiasmatic nucleus	PMID:16686691|REF_RGD_ID:405866367
8740679	Per1	period circadian regulator 1	gene	DOID:9002735	alcohol withdrawal syndrome	severity	ISO	RGD:1349050	D	RGD:9068941	20240302	RGD		mRNA:decreased expression:peripheral blood mononuclear cells (human)	PMID:20735373|REF_RGD_ID:401976556
8740679	Per1	period circadian regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8740679	Per1	period circadian regulator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8740717	Cytl1	cytokine like 1	gene	DOID:1909	melanoma		ISO	RGD:1351161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8740725	Abca9	ATP binding cassette subfamily A member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8740725	Abca9	ATP binding cassette subfamily A member 9	gene	DOID:10534	stomach cancer		ISO	RGD:1314254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8740725	Abca9	ATP binding cassette subfamily A member 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8740725	Abca9	ATP binding cassette subfamily A member 9	gene	DOID:1115	sarcoma		ISO	RGD:1314254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8740725	Abca9	ATP binding cassette subfamily A member 9	gene	DOID:1324	lung cancer		ISO	RGD:1314254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8740725	Abca9	ATP binding cassette subfamily A member 9	gene	DOID:3275	thymoma		ISO	RGD:1314254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8740725	Abca9	ATP binding cassette subfamily A member 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1314254	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8740725	Abca9	ATP binding cassette subfamily A member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8740725	Abca9	ATP binding cassette subfamily A member 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8740725	Abca9	ATP binding cassette subfamily A member 9	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1314254	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
8740769	Arl14epl	ARF like GTPase 14 effector protein like	gene	DOID:10534	stomach cancer		ISO	RGD:6771193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8740769	Arl14epl	ARF like GTPase 14 effector protein like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:6771193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8740769	Arl14epl	ARF like GTPase 14 effector protein like	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:6771193	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:0060058	lymphoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:0111866	trichothiodystrophy		ISO	RGD:1347839	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: trichothiodystrophy	PMID:25741868
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:0111870	nonphotosensitive trichothiodystrophy 7		ISO	RGD:1347839	D	RGD:7240710	20190911	OMIM			
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:0111870	nonphotosensitive trichothiodystrophy 7		ISO	RGD:1347839	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TARS1-related condition | ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE | ClinVar Annotator: match by term: Trichothiodystrophy 7, nonphotosensitive	PMID:25741868|PMID:28492532
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:1115	sarcoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:1324	lung cancer		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:1909	melanoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:3275	thymoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:633	myositis		ISO	RGD:1347839	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23425968
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8740779	Tars1	threonyl-tRNA synthetase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8740808	Ntaq1	N-terminal glutamine amidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1602877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8740808	Ntaq1	N-terminal glutamine amidase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8740808	Ntaq1	N-terminal glutamine amidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740808	Ntaq1	N-terminal glutamine amidase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8740808	Ntaq1	N-terminal glutamine amidase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8740808	Ntaq1	N-terminal glutamine amidase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8740820	Sema3c	semaphorin 3C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
8740820	Sema3c	semaphorin 3C	gene	DOID:10534	stomach cancer		ISO	RGD:1319638	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8740820	Sema3c	semaphorin 3C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8740820	Sema3c	semaphorin 3C	gene	DOID:1115	sarcoma		ISO	RGD:1319638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8740820	Sema3c	semaphorin 3C	gene	DOID:1324	lung cancer		ISO	RGD:1319638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8740820	Sema3c	semaphorin 3C	gene	DOID:1909	melanoma		ISO	RGD:1319638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8740820	Sema3c	semaphorin 3C	gene	DOID:4362	cervical cancer		ISO	RGD:1319638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
8740820	Sema3c	semaphorin 3C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
8740820	Sema3c	semaphorin 3C	gene	DOID:5041	esophageal cancer		ISO	RGD:1319638	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8740820	Sema3c	semaphorin 3C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8740820	Sema3c	semaphorin 3C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8740820	Sema3c	semaphorin 3C	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1319638	D	RGD:9068941	20200609	RGD		protein:increased expression:knee, synovium (human)	PMID:15077297|REF_RGD_ID:1580084
8740820	Sema3c	semaphorin 3C	gene	DOID:9002189	High Myopia		ISO	RGD:1319638	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
8740820	Sema3c	semaphorin 3C	gene	DOID:9003752	Persistent Truncus Arteriosus		ISO	RGD:1319638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15548583
8740820	Sema3c	semaphorin 3C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8740820	Sema3c	semaphorin 3C	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8740844	Shbg	sex hormone binding globulin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:736172	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25996886
8740844	Shbg	sex hormone binding globulin	gene	DOID:1380	endometrial cancer		ISO	RGD:736172	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:p.D327N (human)	PMID:17315164|REF_RGD_ID:1625245
8740844	Shbg	sex hormone binding globulin	gene	DOID:1574	alcohol use disorder		ISO	RGD:736172	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8590623
8740844	Shbg	sex hormone binding globulin	gene	DOID:1790	malignant mesothelioma		ISO	RGD:736172	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:28377727
8740844	Shbg	sex hormone binding globulin	gene	DOID:1875	impotence		ISO	RGD:736172	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17961146
8740844	Shbg	sex hormone binding globulin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:736172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8740844	Shbg	sex hormone binding globulin	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736172	D	RGD:9068941	20200910	CTD		CTD Direct Evidence: marker/mechanism	PMID:17220347
8740844	Shbg	sex hormone binding globulin	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:736172	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16968811|PMID:17992261
8740844	Shbg	sex hormone binding globulin	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:736172	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:17884445|REF_RGD_ID:2313785
8740844	Shbg	sex hormone binding globulin	gene	DOID:9351	diabetes mellitus		ISO	RGD:736172	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:18346991|REF_RGD_ID:2313784
8740844	Shbg	sex hormone binding globulin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736172	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21982312
8740844	Shbg	sex hormone binding globulin	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:736172	D	RGD:9068941	20200609	RGD		DNA, protein:SNPs, decreased expression:rs6257, rs6259, plasma (human)	PMID:19657112|REF_RGD_ID:2313782
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:0110721	neuronal ceroid lipofuscinosis 1		ISO	RGD:1314738	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1	PMID:28492532
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:0111446	progressive myoclonus epilepsy 3		ISO	RGD:1314738	D	RGD:7240710	20180130	OMIM			
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:0111446	progressive myoclonus epilepsy 3		ISO	RGD:1314738	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 3, with intracellular inclusions	PMID:16199547|PMID:17455289|PMID:17576681|PMID:18414213|PMID:22606975|PMID:22638565|PMID:22693283|PMID:22748208|PMID:25060828|PMID:25326635|PMID:25533962|PMID:25640679|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26795593|PMID:27742667|PMID:28492532|PMID:29056246|PMID:29302074|PMID:29619247|PMID:29655203|PMID:30295347|PMID:30500434|PMID:30776697|PMID:30825425|PMID:30919572|PMID:31130284|PMID:31216804|PMID:31965297|PMID:32412666|PMID:32581362|PMID:34866617|PMID:9536098
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:0111446	progressive myoclonus epilepsy 3		ISO	RGD:1314738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH INTRACELLULAR INCLUSIONS | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 3 | ClinVar Annotator: match by term: KCTD7-related condition	PMID:17576681|PMID:22693283|PMID:22748208|PMID:25060828|PMID:25533962|PMID:25741868|PMID:25976102|PMID:26467025|PMID:27742667|PMID:28492532|PMID:29056246|PMID:29302074|PMID:29619247|PMID:29655203|PMID:30295347|PMID:30500434|PMID:30825425|PMID:30919572|PMID:31130284|PMID:31160820|PMID:33767931|PMID:33970744|PMID:9536098
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:1059	intellectual disability		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25060828|PMID:25533962|PMID:25741868|PMID:27742667|PMID:28492532|PMID:30295347|PMID:30825425|PMID:30919572|PMID:32581362|PMID:37541188
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:10907	microcephaly		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1314738	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:22748208|PMID:25741868|PMID:25976102|PMID:27742667|PMID:28492532|PMID:30295347|PMID:31130284
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:22606975|PMID:22693283|PMID:22748208|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26795593|PMID:27742667|PMID:28492532|PMID:29056246|PMID:30295347|PMID:30825425|PMID:31130284|PMID:32404165|PMID:32412666|PMID:34395220|PMID:34866617|PMID:39675099|PMID:40996926
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:1596	depressive disorder		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:1824	status epilepticus		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:25060828|PMID:25533962|PMID:25741868|PMID:27742667|PMID:28492532|PMID:30295347|PMID:30825425|PMID:30919572|PMID:32581362|PMID:37541188
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:1826	epilepsy		ISO	RGD:1314738	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:26467025|PMID:28492532
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:1826	epilepsy		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:22606975|PMID:22693283|PMID:25741868|PMID:27742667|PMID:28492532|PMID:30295347|PMID:31130284|PMID:31160820|PMID:33970744|PMID:34866617
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:1827	generalized epilepsy		ISO	RGD:1314738	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:28492532|PMID:30295347|PMID:32581362|PMID:37541188
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:1909	melanoma		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:2030	anxiety disorder		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:630	genetic disease		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22748208|PMID:25060828|PMID:25533962|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26795593|PMID:27742667|PMID:28492532|PMID:29056246|PMID:30295347|PMID:30825425|PMID:30919572|PMID:31130284|PMID:32412666|PMID:32581362|PMID:34395220|PMID:37541188
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1314738	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: progressive myoclonus epilepsy	PMID:16199547|PMID:22693283|PMID:25741868|PMID:26795593|PMID:28492532
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:22606975|PMID:22693283|PMID:25741868|PMID:27742667|PMID:28492532|PMID:31160820|PMID:33970744|PMID:34866617
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:9004866	Ataxia		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532|PMID:30295347|PMID:31130284
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25060828|PMID:25533962|PMID:25741868|PMID:27742667|PMID:28492532|PMID:30295347|PMID:30825425|PMID:30919572|PMID:32581362|PMID:37541188
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:9007661	Dwarfism		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:22606975|PMID:22693283|PMID:25741868|PMID:27742667|PMID:28492532|PMID:31160820|PMID:33970744|PMID:34866617
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:30295347|PMID:31130284
8740862	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:9008589	Hallux Valgus		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	PMID:22606975|PMID:22693283|PMID:25741868|PMID:27742667|PMID:28492532|PMID:31160820|PMID:33970744|PMID:34866617
8740878	Fgg	fibrinogen gamma chain	gene	DOID:0051061	stroke	susceptibility	ISO	RGD:731481	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:902A>G (rs1800792) (human)	PMID:18278190|REF_RGD_ID:5688760
8740878	Fgg	fibrinogen gamma chain	gene	DOID:0110792	hereditary spastic paraplegia 4		ISO	RGD:731481	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 4	PMID:25741868
8740878	Fgg	fibrinogen gamma chain	gene	DOID:0112313	brain small vessel disease		ISO	RGD:731481	D	RGD:9068941	20200609	RGD		DNA:polymorphisms, haplotypes	PMID:17951283|REF_RGD_ID:5688761
8740878	Fgg	fibrinogen gamma chain	gene	DOID:1324	lung cancer		ISO	RGD:731481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8740878	Fgg	fibrinogen gamma chain	gene	DOID:2213	hemorrhagic disease		ISO	RGD:731481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:20135062|PMID:23852822|PMID:25741868|PMID:28492532|PMID:30349899|PMID:31064749|PMID:35975558
8740878	Fgg	fibrinogen gamma chain	gene	DOID:2236	congenital afibrinogenemia		ISO	RGD:731481	D	RGD:7240710	20180130	OMIM			
8740878	Fgg	fibrinogen gamma chain	gene	DOID:2236	congenital afibrinogenemia		ISO	RGD:731481	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AFIBRINOGENEMIA, CONGENITAL | ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: FGG-related condition | ClinVar Annotator: match by term: Hypofibrinogenemia	PMID:10870810|PMID:10911375|PMID:17576681|PMID:19923982|PMID:19949684|PMID:20386430|PMID:20508898|PMID:20546853|PMID:22836217|PMID:23560673|PMID:24033266|PMID:24556703|PMID:2496144|PMID:25320241|PMID:25741868|PMID:28492532|PMID:29351094|PMID:2971042|PMID:30349899|PMID:30418131|PMID:30512152|PMID:31064749|PMID:31295712|PMID:31314131|PMID:32877852|PMID:33443927|PMID:34275736|PMID:35048620|PMID:35063457|PMID:35975558|PMID:37647632|PMID:38286442|PMID:7635941|PMID:7654933|PMID:8470043|PMID:9536098
8740878	Fgg	fibrinogen gamma chain	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:10586	D	RGD:9068941	20200625	RGD		protein:increased expression:lung (mouse)	PMID:23919993|REF_RGD_ID:30310231
8740878	Fgg	fibrinogen gamma chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8740878	Fgg	fibrinogen gamma chain	gene	DOID:4989	pancreatitis		ISO	RGD:2613	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas, rough endoplasmic reticulum	PMID:19954227|REF_RGD_ID:5688770
8740878	Fgg	fibrinogen gamma chain	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:2613	D	RGD:9068941	20241116	RGD			PMID:31734577|REF_RGD_ID:408418726
8740878	Fgg	fibrinogen gamma chain	gene	DOID:630	genetic disease		ISO	RGD:731481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10613648|PMID:18832913|PMID:25741868|PMID:28492532|PMID:3160702|PMID:35821906|PMID:7740487
8740878	Fgg	fibrinogen gamma chain	gene	DOID:9000058	Keloid		ISO	RGD:731481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
8740878	Fgg	fibrinogen gamma chain	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:731481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19424620
8740878	Fgg	fibrinogen gamma chain	gene	DOID:9000326	Thrombotic Microangiopathies		ISO	RGD:731481	D	RGD:9068941	20200609	RGD			PMID:17038160|REF_RGD_ID:11352673
8740878	Fgg	fibrinogen gamma chain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2613	D	RGD:9068941	20200609	RGD		mRNA:increased expression	PMID:17054587|REF_RGD_ID:1599810
8740878	Fgg	fibrinogen gamma chain	gene	DOID:9003121	Thromboembolism		ISO	RGD:731481	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Thromboembolism	PMID:25741868|PMID:31064749
8740878	Fgg	fibrinogen gamma chain	gene	DOID:9003464	Congenital Dysfibrinogenemia		ISO	RGD:731481	D	RGD:7240710	20180130	OMIM			
8740878	Fgg	fibrinogen gamma chain	gene	DOID:9003464	Congenital Dysfibrinogenemia		ISO	RGD:731481	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysfibrinogenemia | ClinVar Annotator: match by term: Dysfibrinogenemia, congenital | ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 3	PMID:10870810|PMID:10911375|PMID:17849064|PMID:19923982|PMID:19949684|PMID:20135062|PMID:20386430|PMID:20508898|PMID:20546853|PMID:22836217|PMID:23061815|PMID:2328317|PMID:23852822|PMID:2496144|PMID:25320241|PMID:25741868|PMID:28492532|PMID:29351094|PMID:2971042|PMID:30349899|PMID:30512152|PMID:31064749|PMID:31295712|PMID:31314131|PMID:3175983|PMID:32877852|PMID:33443927|PMID:34275736|PMID:35048620|PMID:35063457|PMID:35853369|PMID:35975558|PMID:38286442|PMID:7635941|PMID:7654933
8740878	Fgg	fibrinogen gamma chain	gene	DOID:9005372	Inflammation	treatment	ISO	RGD:2613	D	RGD:9068941	20200609	RGD			PMID:11490095|REF_RGD_ID:11352805
8740878	Fgg	fibrinogen gamma chain	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:2613	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:kidney	PMID:21685370|REF_RGD_ID:7175292
8740878	Fgg	fibrinogen gamma chain	gene	DOID:9008217	Hemorrhage		ISO	RGD:731481	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hemorrhage	PMID:25741868
8740878	Fgg	fibrinogen gamma chain	gene	DOID:9008691	Liver Injury		ISO	RGD:2613	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:26314240|REF_RGD_ID:11352697
8740878	Fgg	fibrinogen gamma chain	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731481	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (human)	PMID:7974333|REF_RGD_ID:2312416
8740878	Fgg	fibrinogen gamma chain	gene	DOID:9477	pulmonary embolism		ISO	RGD:2613	D	RGD:9068941	20200609	RGD		protein:increased expression:blood microparticle	PMID:22014850|REF_RGD_ID:5688769
8740878	Fgg	fibrinogen gamma chain	gene	DOID:9538	multiple myeloma	treatment	ISO	RGD:731481	D	RGD:9068941	20200609	RGD			PMID:22348216|REF_RGD_ID:11040544
8740878	Fgg	fibrinogen gamma chain	gene	DOID:9970	obesity		ISO	RGD:2613	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:22134356|REF_RGD_ID:11352709
8740903	Tmem164	transmembrane protein 164	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8740903	Tmem164	transmembrane protein 164	gene	DOID:1324	lung cancer		ISO	RGD:1604569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8740903	Tmem164	transmembrane protein 164	gene	DOID:3275	thymoma		ISO	RGD:1604569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8740903	Tmem164	transmembrane protein 164	gene	DOID:4362	cervical cancer		ISO	RGD:1604569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8740903	Tmem164	transmembrane protein 164	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740903	Tmem164	transmembrane protein 164	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8740903	Tmem164	transmembrane protein 164	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1604569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8740903	Tmem164	transmembrane protein 164	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8740903	Tmem164	transmembrane protein 164	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8740923	Rtn1	reticulon 1	gene	DOID:1909	melanoma		ISO	RGD:732399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8740923	Rtn1	reticulon 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8740923	Rtn1	reticulon 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740923	Rtn1	reticulon 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8740923	Rtn1	reticulon 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:732399	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8740940	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8740940	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8740940	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8740940	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8740940	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:1115	sarcoma		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8740940	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:1324	lung cancer		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8740940	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:1909	melanoma		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8740940	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:3275	thymoma		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8740940	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8740940	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8740940	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8740940	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345566	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8740940	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740940	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8740940	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8740940	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8740972	Cfap263	cilia and flagella associated protein 263	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8740972	Cfap263	cilia and flagella associated protein 263	gene	DOID:3070	high grade glioma		ISO	RGD:1606018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8740972	Cfap263	cilia and flagella associated protein 263	gene	DOID:4362	cervical cancer		ISO	RGD:1606018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8740972	Cfap263	cilia and flagella associated protein 263	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8740972	Cfap263	cilia and flagella associated protein 263	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8740972	Cfap263	cilia and flagella associated protein 263	gene	DOID:5041	esophageal cancer		ISO	RGD:1606018	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8740972	Cfap263	cilia and flagella associated protein 263	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8740972	Cfap263	cilia and flagella associated protein 263	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8740972	Cfap263	cilia and flagella associated protein 263	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8740972	Cfap263	cilia and flagella associated protein 263	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8740987	Gbp5	guanylate binding protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8740987	Gbp5	guanylate binding protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8740987	Gbp5	guanylate binding protein 5	gene	DOID:10608	celiac disease		ISO	RGD:1322285	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
8740987	Gbp5	guanylate binding protein 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8740987	Gbp5	guanylate binding protein 5	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1322285	D	RGD:9068941	20260314	RGD		associated with lung disease;mRNA:decreased expression:blood	PMID:26025597|REF_RGD_ID:11055351
8740987	Gbp5	guanylate binding protein 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8740987	Gbp5	guanylate binding protein 5	gene	DOID:4362	cervical cancer		ISO	RGD:1322285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8740987	Gbp5	guanylate binding protein 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1322285	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8740987	Gbp5	guanylate binding protein 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8740987	Gbp5	guanylate binding protein 5	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322285	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8740987	Gbp5	guanylate binding protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8740987	Gbp5	guanylate binding protein 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8741006	Stpg3	sperm-tail PG-rich repeat containing 3	gene	DOID:1826	epilepsy		ISO	RGD:1604889	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizure	
8741016	Man1a1	mannosidase alpha class 1A member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8741016	Man1a1	mannosidase alpha class 1A member 1	gene	DOID:1059	intellectual disability		ISO	RGD:1322054	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:24824130
8741016	Man1a1	mannosidase alpha class 1A member 1	gene	DOID:1115	sarcoma		ISO	RGD:1322054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8741016	Man1a1	mannosidase alpha class 1A member 1	gene	DOID:1324	lung cancer		ISO	RGD:1322054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8741016	Man1a1	mannosidase alpha class 1A member 1	gene	DOID:3275	thymoma		ISO	RGD:1322054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8741016	Man1a1	mannosidase alpha class 1A member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8741016	Man1a1	mannosidase alpha class 1A member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741016	Man1a1	mannosidase alpha class 1A member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8741016	Man1a1	mannosidase alpha class 1A member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8741016	Man1a1	mannosidase alpha class 1A member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:0080874	primary ovarian insufficiency 17		ISO	RGD:1349181	D	RGD:7240710	20210113	OMIM			
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:0080874	primary ovarian insufficiency 17		ISO	RGD:1349181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure 17	PMID:25741868|PMID:28492532|PMID:28779002|PMID:28912153|PMID:33471991
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:0111085	Fanconi anemia complementation group U		ISO	RGD:1349181	D	RGD:7240710	20190315	OMIM			
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:0111085	Fanconi anemia complementation group U		ISO	RGD:1349181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group U	PMID:25741868|PMID:28492532|PMID:28779002|PMID:28912153|PMID:33471991
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:0112272	spermatogenic failure 50		ISO	RGD:1349181	D	RGD:7240710	20210113	OMIM			
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:0112272	spermatogenic failure 50		ISO	RGD:1349181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 50	PMID:25741868|PMID:28492532|PMID:28779002|PMID:28912153|PMID:30042186|PMID:30489636|PMID:33194656|PMID:33471991
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:1612	breast cancer		ISO	RGD:1349181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:26845104
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1349181	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:rs3218536 (human)	PMID:16540687|REF_RGD_ID:2317365
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1349181	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.R188H (human)	PMID:17986315|REF_RGD_ID:2317507
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:3459	breast carcinoma		ISO	RGD:1349181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:28492532
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1349181	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:29255180|PMID:32566746
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1349181	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28779002|PMID:29255180
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349181	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11118202|PMID:12455067|PMID:15855896|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29739106|PMID:29915322|PMID:30306255|PMID:30322717|PMID:31159747|PMID:31463769|PMID:9536098
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349181	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11118202|PMID:12455067|PMID:15855896|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29739106|PMID:29915322|PMID:30306255|PMID:30322717|PMID:31463769|PMID:9536098
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349181	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11118202|PMID:12455067|PMID:15855896|PMID:17557904|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:23383274|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28135048|PMID:28486781|PMID:28492532|PMID:28715532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29641532|PMID:29739106|PMID:29915322|PMID:30042186|PMID:30306255|PMID:30322717|PMID:30489636|PMID:30613976|PMID:31159747|PMID:31463769|PMID:31779681|PMID:31911633|PMID:32235514|PMID:32658311|PMID:32832836|PMID:32860008|PMID:33194656|PMID:33471991|PMID:3471991|PMID:36113475|PMID:9536098
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349181	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11118202|PMID:12455067|PMID:15855896|PMID:16199547|PMID:17557904|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:23383274|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28135048|PMID:28486781|PMID:28492532|PMID:28715532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29641532|PMID:29739106|PMID:29915322|PMID:30042186|PMID:30306255|PMID:30322717|PMID:30489636|PMID:30613976|PMID:31159747|PMID:31463769|PMID:31779681|PMID:31911633|PMID:32235514|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32860008|PMID:33194656|PMID:33332384|PMID:33471991|PMID:33558524|PMID:3471991|PMID:36113475|PMID:36672847|PMID:9536098
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349181	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11118202|PMID:12455067|PMID:15855896|PMID:16199547|PMID:17557904|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:23383274|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28135048|PMID:28486781|PMID:28492532|PMID:28715532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29641532|PMID:29739106|PMID:29915322|PMID:30042186|PMID:30306255|PMID:30322717|PMID:30489636|PMID:30613976|PMID:31159747|PMID:31463769|PMID:31603477|PMID:31779681|PMID:31911633|PMID:32235514|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32860008|PMID:33194656|PMID:33332384|PMID:33471991|PMID:33558524|PMID:3471991|PMID:36113475|PMID:36266327|PMID:36672847|PMID:9536098
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349181	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11118202|PMID:12455067|PMID:15855896|PMID:16169065|PMID:16199547|PMID:17557904|PMID:17576681|PMID:21240073|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:23383274|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28135048|PMID:28486781|PMID:28492532|PMID:28715532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29053726|PMID:29255180|PMID:29641532|PMID:29739106|PMID:29915322|PMID:30042186|PMID:30306255|PMID:30322717|PMID:30489636|PMID:30613976|PMID:31159747|PMID:31173646|PMID:31463769|PMID:31603477|PMID:31779681|PMID:31911633|PMID:32235514|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32860008|PMID:33194656|PMID:33332384|PMID:33471991|PMID:33558524|PMID:3471991|PMID:35988656|PMID:36113475|PMID:36266327|PMID:36290365|PMID:36672847|PMID:39003306|PMID:9536098
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12455067|PMID:15855896|PMID:16199547|PMID:17576681|PMID:22464251|PMID:23054243|PMID:25741868|PMID:26467025|PMID:27233470|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28912153|PMID:29915322|PMID:30322717|PMID:31159747|PMID:32235514|PMID:33332384|PMID:33471991|PMID:33558524|PMID:3471991|PMID:35171259|PMID:35534704|PMID:36113475|PMID:9536098
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1349181	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12023982
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349181	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
8741032	Xrcc2	X-ray repair cross complementing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349181	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:26467025|PMID:28492532|PMID:32235514
8741063	Vwa2	von Willebrand factor A domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8741063	Vwa2	von Willebrand factor A domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741063	Vwa2	von Willebrand factor A domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8741095	Adprh	ADP-ribosylarginine hydrolase	gene	DOID:0080600	COVID-19		ISO	RGD:732427	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8741095	Adprh	ADP-ribosylarginine hydrolase	gene	DOID:10534	stomach cancer		ISO	RGD:732427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8741095	Adprh	ADP-ribosylarginine hydrolase	gene	DOID:1324	lung cancer		ISO	RGD:732427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8741095	Adprh	ADP-ribosylarginine hydrolase	gene	DOID:4362	cervical cancer		ISO	RGD:732427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8741095	Adprh	ADP-ribosylarginine hydrolase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8741095	Adprh	ADP-ribosylarginine hydrolase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8741095	Adprh	ADP-ribosylarginine hydrolase	gene	DOID:9007702	Carcinogenesis		ISO	RGD:10094	D	RGD:9068941	20200609	RGD			PMID:21697277|REF_RGD_ID:13838723
8741095	Adprh	ADP-ribosylarginine hydrolase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8741120	Gc	GC vitamin D binding protein	gene	DOID:0050784	primary progressive multiple sclerosis		ISO	RGD:736902	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid:	PMID:20093204|REF_RGD_ID:5509869
8741120	Gc	GC vitamin D binding protein	gene	DOID:0050848	obstructive sleep apnea	susceptibility	ISO	RGD:736902	D	RGD:9068941	20260319	RGD		DNA:SNPs: :rs4588	PMID:30782293|REF_RGD_ID:640478525
8741120	Gc	GC vitamin D binding protein	gene	DOID:0080600	COVID-19	disease_progression	ISO	RGD:736902	D	RGD:9068941	20260305	RGD		DNA:SNP: :rs7041	PMID:32770768|REF_RGD_ID:636705845
8741120	Gc	GC vitamin D binding protein	gene	DOID:0080600	COVID-19	no_association	ISO	RGD:736902	D	RGD:9068941	20260305	RGD		DNA:SNP: :rs4588	PMID:32770768|REF_RGD_ID:636705845
8741120	Gc	GC vitamin D binding protein	gene	DOID:0080600	COVID-19	susceptibility	ISO	RGD:736902	D	RGD:9068941	20260305	RGD		DNA:SNP: :rs7041	PMID:32770768|REF_RGD_ID:636705845
8741120	Gc	GC vitamin D binding protein	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:736902	D	RGD:9068941	20260326	RGD		mRNA:increased expression:peripheral blood mononuclear cell	PMID:27026514|REF_RGD_ID:632518024
8741120	Gc	GC vitamin D binding protein	gene	DOID:0080820	occupational asthma		ISO	RGD:736902	D	RGD:9068941	20260305	RGD		protein:increased expression:blood serum	PMID:22314196|REF_RGD_ID:636688926
8741120	Gc	GC vitamin D binding protein	gene	DOID:0081013	severe COVID-19	no_association	ISO	RGD:736902	D	RGD:9068941	20260326	RGD		DNA:SNP:exon:rs7041	PMID:35861117|REF_RGD_ID:640480044
8741120	Gc	GC vitamin D binding protein	gene	DOID:10591	pre-eclampsia		ISO	RGD:736902	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:placenta (human)	PMID:32682061|REF_RGD_ID:401901078
8741120	Gc	GC vitamin D binding protein	gene	DOID:1115	sarcoma		ISO	RGD:736902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8741120	Gc	GC vitamin D binding protein	gene	DOID:11162	respiratory failure	disease_progression	ISO	RGD:736902	D	RGD:9068941	20260321	RGD		protein:decreased expression:blood serum	PMID:12545009|REF_RGD_ID:640478537
8741120	Gc	GC vitamin D binding protein	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:736902	D	RGD:9068941	20260321	RGD		protein:decreased expression:blood serum	PMID:2432615|REF_RGD_ID:5147458
8741120	Gc	GC vitamin D binding protein	gene	DOID:11446	sciatic neuropathy		ISO	RGD:736902	D	RGD:9068941	20200609	RGD		protein:increased expression:nerve	PMID:15509515|REF_RGD_ID:2316214
8741120	Gc	GC vitamin D binding protein	gene	DOID:11476	osteoporosis		ISO	RGD:736902	D	RGD:9068941	20260226	RGD			PMID:17002564|REF_RGD_ID:1625350
8741120	Gc	GC vitamin D binding protein	gene	DOID:12205	dengue disease		ISO	RGD:736902	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19845402|REF_RGD_ID:5509870
8741120	Gc	GC vitamin D binding protein	gene	DOID:12361	Graves' disease		ISO	RGD:736902	D	RGD:9068941	20210521	CTD		CTD Direct Evidence: marker/mechanism	PMID:12050214
8741120	Gc	GC vitamin D binding protein	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:736902	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.T420K(human)	PMID:16868893|REF_RGD_ID:5509883
8741120	Gc	GC vitamin D binding protein	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:736902	D	RGD:9068941	20200609	RGD		DNA:repeats:intron	PMID:12050214|REF_RGD_ID:5509886
8741120	Gc	GC vitamin D binding protein	gene	DOID:12663	blastomycosis	susceptibility	ISO	RGD:736902	D	RGD:9068941	20260312	RGD		DNA:SNP: :rs4588	PMID:25459678|REF_RGD_ID:640476615
8741120	Gc	GC vitamin D binding protein	gene	DOID:1289	neurodegenerative disease		ISO	RGD:736902	D	RGD:9068941	20200609	RGD			PMID:19000909|REF_RGD_ID:5509872
8741120	Gc	GC vitamin D binding protein	gene	DOID:13141	uveitis	susceptibility	ISO	RGD:736902	D	RGD:9068941	20200609	RGD		associated with Spondylitis, Ankylosing;DNA:SNP: :rs4752(human)	PMID:21844150|REF_RGD_ID:5509918
8741120	Gc	GC vitamin D binding protein	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:736902	D	RGD:9068941	20260312	RGD		protein:decreased expression:blood serum	PMID:22556021|REF_RGD_ID:640476614
8741120	Gc	GC vitamin D binding protein	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:736902	D	RGD:9068941	20260319	RGD		protein:altered expression:respiratory system fluid/secretion, blood plasma, extracellular exosome	PMID:27566455|REF_RGD_ID:640476630
8741120	Gc	GC vitamin D binding protein	gene	DOID:13413	hepatic encephalopathy		ISO	RGD:736902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11510020
8741120	Gc	GC vitamin D binding protein	gene	DOID:13413	hepatic encephalopathy		ISO	RGD:736902	D	RGD:9068941	20200609	RGD			PMID:11521994|REF_RGD_ID:5509929
8741120	Gc	GC vitamin D binding protein	gene	DOID:14115	toxic shock syndrome		ISO	RGD:736902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17852808
8741120	Gc	GC vitamin D binding protein	gene	DOID:1485	cystic fibrosis		ISO	RGD:736902	D	RGD:9068941	20260305	RGD		protein:decreased expression:blood serum	PMID:6793502|REF_RGD_ID:636156979
8741120	Gc	GC vitamin D binding protein	gene	DOID:1586	rheumatic fever		ISO	RGD:736902	D	RGD:9068941	20200609	RGD			PMID:2737695|REF_RGD_ID:5509933
8741120	Gc	GC vitamin D binding protein	gene	DOID:2316	brain ischemia		ISO	RGD:2667	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:11239198|REF_RGD_ID:1625796
8741120	Gc	GC vitamin D binding protein	gene	DOID:2377	multiple sclerosis		ISO	RGD:736902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25590278
8741120	Gc	GC vitamin D binding protein	gene	DOID:2377	multiple sclerosis		ISO	RGD:736902	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebrospinal fluid	PMID:18807170|REF_RGD_ID:5509923
8741120	Gc	GC vitamin D binding protein	gene	DOID:2377	multiple sclerosis		ISO	RGD:736902	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:19324981|REF_RGD_ID:5509922
8741120	Gc	GC vitamin D binding protein	gene	DOID:2377	multiple sclerosis	no_association	ISO	RGD:736902	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon:p.T420K, D416E(human)	PMID:12044990|REF_RGD_ID:5509887
8741120	Gc	GC vitamin D binding protein	gene	DOID:2377	multiple sclerosis	susceptibility	ISO	RGD:736902	D	RGD:9068941	20200609	RGD			PMID:12137326|REF_RGD_ID:5509885
8741120	Gc	GC vitamin D binding protein	gene	DOID:2755	Mycobacterium avium complex disease		ISO	RGD:736902	D	RGD:9068941	20260328	RGD		protein:increased expression:blood serum	PMID:27931333|REF_RGD_ID:640480048
8741120	Gc	GC vitamin D binding protein	gene	DOID:2841	asthma		ISO	RGD:10624	D	RGD:9068941	20200609	RGD			PMID:21169467|REF_RGD_ID:5509920
8741120	Gc	GC vitamin D binding protein	gene	DOID:2841	asthma		ISO	RGD:736902	D	RGD:9068941	20200609	RGD		protein, mRNA:increased expression:respiratory system fluid/secretion	PMID:21169467|REF_RGD_ID:5509920
8741120	Gc	GC vitamin D binding protein	gene	DOID:2841	asthma		ISO	RGD:736902	D	RGD:9068941	20260307	RGD		DNA:SNP: :rs4588	PMID:37407930|REF_RGD_ID:640469346
8741120	Gc	GC vitamin D binding protein	gene	DOID:2841	asthma	no_association	ISO	RGD:736902	D	RGD:9068941	20260312	RGD		DNA:SNP:cds:p.T436K (rs4588)	PMID:24745702|REF_RGD_ID:640476582
8741120	Gc	GC vitamin D binding protein	gene	DOID:2841	asthma	severity	ISO	RGD:736902	D	RGD:9068941	20260305	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:22460073|REF_RGD_ID:640469344
8741120	Gc	GC vitamin D binding protein	gene	DOID:2841	asthma	severity	ISO	RGD:736902	D	RGD:9068941	20260326	RGD		DNA:SNP:intron:rs2282679	PMID:24007655|REF_RGD_ID:640478535
8741120	Gc	GC vitamin D binding protein	gene	DOID:2841	asthma	susceptibility	ISO	RGD:736902	D	RGD:9068941	20260228	RGD		DNA:SNPs: :rs7041	PMID:31541492|REF_RGD_ID:632527185
8741120	Gc	GC vitamin D binding protein	gene	DOID:2841	asthma	susceptibility	ISO	RGD:736902	D	RGD:9068941	20260305	RGD		DNA:SNPs, haplotype: :rs7041	PMID:24447085|REF_RGD_ID:636653134
8741120	Gc	GC vitamin D binding protein	gene	DOID:2841	asthma	susceptibility	ISO	RGD:736902	D	RGD:9068941	20260307	RGD		DNA:SNPs:exon:rs7041, rs4588	PMID:21810276|REF_RGD_ID:640469349
8741120	Gc	GC vitamin D binding protein	gene	DOID:2841	asthma	susceptibility	ISO	RGD:736902	D	RGD:9068941	20260312	RGD		DNA:missense mutation, haplotype:cds:p.D432E (rs7041)	PMID:24745702|REF_RGD_ID:640476582
8741120	Gc	GC vitamin D binding protein	gene	DOID:2841	asthma	treatment	ISO	RGD:10624	D	RGD:9068941	20260312	RGD			PMID:28846076|REF_RGD_ID:640476613
8741120	Gc	GC vitamin D binding protein	gene	DOID:2841	asthma	treatment	ISO	RGD:736902	D	RGD:9068941	20260326	RGD			PMID:24969716|REF_RGD_ID:640480046
8741120	Gc	GC vitamin D binding protein	gene	DOID:2841	asthma	treatment	ISO	RGD:736902	D	RGD:9068941	20260326	RGD		DNA:SNP:intron:rs2282679	PMID:24007655|REF_RGD_ID:640478535
8741120	Gc	GC vitamin D binding protein	gene	DOID:289	endometriosis	severity	ISO	RGD:736902	D	RGD:9068941	20200609	RGD			PMID:18334925|REF_RGD_ID:5509874
8741120	Gc	GC vitamin D binding protein	gene	DOID:3021	acute kidney failure		ISO	RGD:736902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
8741120	Gc	GC vitamin D binding protein	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:736902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic obstructive pulmonary disease	
8741120	Gc	GC vitamin D binding protein	gene	DOID:3083	chronic obstructive pulmonary disease	no_association	ISO	RGD:736902	D	RGD:9068941	20260326	RGD		DNA:SNP:exon:rs4588	PMID:19996341|REF_RGD_ID:640480049
8741120	Gc	GC vitamin D binding protein	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:736902	D	RGD:9068941	20260305	RGD		DNA, protein:SNPs, haplotype, increased secretion:cds, sputum:rs4588, rs7041	PMID:32546996|REF_RGD_ID:632645234
8741120	Gc	GC vitamin D binding protein	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:736902	D	RGD:9068941	20260326	RGD		DNA:SNP, haplotypes:exon:rs4588	PMID:24735339|REF_RGD_ID:640480042
8741120	Gc	GC vitamin D binding protein	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:736902	D	RGD:9068941	20260305	RGD			PMID:15059409|REF_RGD_ID:636704102
8741120	Gc	GC vitamin D binding protein	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:736902	D	RGD:9068941	20260305	RGD		DNA:SNP: :rs7041	PMID:24857306|REF_RGD_ID:640341902
8741120	Gc	GC vitamin D binding protein	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:736902	D	RGD:9068941	20260305	RGD		DNA:polymorphisms	PMID:16637263|PMID:20819447|REF_RGD_ID:636259205|REF_RGD_ID:636697968
8741120	Gc	GC vitamin D binding protein	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:736902	D	RGD:9068941	20260305	RGD		protein:decreased expression:blood serum	PMID:30259785|REF_RGD_ID:632645230
8741120	Gc	GC vitamin D binding protein	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:736902	D	RGD:9068941	20260312	RGD		DNA:SNPs, haplotype:exon:rs7041, rs4588	PMID:25048491|REF_RGD_ID:640476587
8741120	Gc	GC vitamin D binding protein	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:736902	D	RGD:9068941	20260319	RGD		DNA:SNPs, haplotype:exon:rs4588, rs7041	PMID:11757623|REF_RGD_ID:640476632
8741120	Gc	GC vitamin D binding protein	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:736902	D	RGD:9068941	20260326	RGD		DNA:SNP:exon:rs7041	PMID:19996341|REF_RGD_ID:640480049
8741120	Gc	GC vitamin D binding protein	gene	DOID:3905	lung carcinoma	treatment	ISO	RGD:10624	D	RGD:9068941	20260312	RGD			PMID:23780979|REF_RGD_ID:640476611
8741120	Gc	GC vitamin D binding protein	gene	DOID:3908	lung non-small cell carcinoma	no_association	ISO	RGD:736902	D	RGD:9068941	20260321	RGD		DNA:SNP:exon:rs4588	PMID:27669215|REF_RGD_ID:151665175
8741120	Gc	GC vitamin D binding protein	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:736902	D	RGD:9068941	20260321	RGD		DNA:SNP:exon:rs7041	PMID:27669215|REF_RGD_ID:151665175
8741120	Gc	GC vitamin D binding protein	gene	DOID:399	tuberculosis		ISO	RGD:736902	D	RGD:9068941	20260321	RGD		protein:increased expression:blood serum	PMID:2432615|REF_RGD_ID:5147458
8741120	Gc	GC vitamin D binding protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8741120	Gc	GC vitamin D binding protein	gene	DOID:5082	liver cirrhosis		ISO	RGD:736902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24381012
8741120	Gc	GC vitamin D binding protein	gene	DOID:526	human immunodeficiency virus infectious disease	disease_progression	ISO	RGD:736902	D	RGD:9068941	20200609	RGD			PMID:2883392|REF_RGD_ID:5509934
8741120	Gc	GC vitamin D binding protein	gene	DOID:5419	schizophrenia		ISO	RGD:736902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25821032
8741120	Gc	GC vitamin D binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8741120	Gc	GC vitamin D binding protein	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:736902	D	RGD:9068941	20200609	RGD		associated with Hepatitis B, Chronic;DNA:SNP: :rs7041(human)	PMID:25541958|REF_RGD_ID:14402025
8741120	Gc	GC vitamin D binding protein	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3874814
8741120	Gc	GC vitamin D binding protein	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736902	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:9548303|REF_RGD_ID:5509931
8741120	Gc	GC vitamin D binding protein	gene	DOID:824	periodontitis		ISO	RGD:736902	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:25741868
8741120	Gc	GC vitamin D binding protein	gene	DOID:848	arthritis	susceptibility	ISO	RGD:736902	D	RGD:9068941	20200609	RGD		associated with Spondylitis, Ankylosing;DNA:SNPs: :rs222016, rs222020,rs3733359(human)	PMID:21844150|REF_RGD_ID:5509918
8741120	Gc	GC vitamin D binding protein	gene	DOID:8577	ulcerative colitis	susceptibility	ISO	RGD:736902	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.T420K(human)	PMID:21832969|REF_RGD_ID:5509866
8741120	Gc	GC vitamin D binding protein	gene	DOID:8778	Crohn's disease	susceptibility	ISO	RGD:736902	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.T420K(human)	PMID:21832969|REF_RGD_ID:5509866
8741120	Gc	GC vitamin D binding protein	gene	DOID:8947	diabetic retinopathy		ISO	RGD:736902	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous body	PMID:16080911|REF_RGD_ID:2315548
8741120	Gc	GC vitamin D binding protein	gene	DOID:9000888	Pregnancy in Diabetics		ISO	RGD:2667	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:3948765|REF_RGD_ID:2315537
8741120	Gc	GC vitamin D binding protein	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8741120	Gc	GC vitamin D binding protein	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:736902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17852808
8741120	Gc	GC vitamin D binding protein	gene	DOID:9001600	Wounds and Injuries	treatment	ISO	RGD:2667	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:24263389|REF_RGD_ID:11041807
8741120	Gc	GC vitamin D binding protein	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:736902	D	RGD:9068941	20260326	RGD		protein:decreased expression:blood plasma	PMID:32041235|REF_RGD_ID:640480052
8741120	Gc	GC vitamin D binding protein	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:736902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24381012
8741120	Gc	GC vitamin D binding protein	gene	DOID:9002906	Multiple Organ Failure	disease_progression	ISO	RGD:736902	D	RGD:9068941	20260321	RGD		protein:decreased expression:blood serum	PMID:12545009|REF_RGD_ID:640478537
8741120	Gc	GC vitamin D binding protein	gene	DOID:9004086	AIDS Dementia Complex		ISO	RGD:736902	D	RGD:9068941	20200609	RGD		associated with HIV Infections;protein:increased expression:cerebrospinal fluid:	PMID:17929958|REF_RGD_ID:5509882
8741120	Gc	GC vitamin D binding protein	gene	DOID:9004257	Pneumonia, Ventilator-Associated		ISO	RGD:736902	D	RGD:9068941	20200609	RGD		protein:increased expression:bronchoalveolar fluid:	PMID:21136918|REF_RGD_ID:5509873
8741120	Gc	GC vitamin D binding protein	gene	DOID:9004484	Sepsis	disease_progression	ISO	RGD:736902	D	RGD:9068941	20260321	RGD		protein:decreased expression:blood serum	PMID:12545009|REF_RGD_ID:640478537
8741120	Gc	GC vitamin D binding protein	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:736902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17852808|PMID:8666322
8741120	Gc	GC vitamin D binding protein	gene	DOID:9004590	Acute Liver Failure	disease_progression	ISO	RGD:736902	D	RGD:9068941	20260321	RGD		protein:decreased expression:blood serum	PMID:9267951|REF_RGD_ID:640478536
8741120	Gc	GC vitamin D binding protein	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:736902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17902193
8741120	Gc	GC vitamin D binding protein	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2667	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:3838933|REF_RGD_ID:2315540
8741120	Gc	GC vitamin D binding protein	gene	DOID:9006086	Intervertebral Disc Displacement		ISO	RGD:736902	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:16868893|REF_RGD_ID:5509883
8741120	Gc	GC vitamin D binding protein	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:2667	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:21416056|REF_RGD_ID:5509868
8741120	Gc	GC vitamin D binding protein	gene	DOID:9006359	Vitamin D Deficiency		ISO	RGD:736902	D	RGD:9068941	20231130	RGD		DNA:SNP:CDS:rs2282679) (human)	PMID:31814925|REF_RGD_ID:401901168
8741120	Gc	GC vitamin D binding protein	gene	DOID:9006359	Vitamin D Deficiency		ISO	RGD:736902	D	RGD:9068941	20260326	RGD		associated with bronchiectasis;protein:increased expression:sputum	PMID:23076388|REF_RGD_ID:640480054
8741120	Gc	GC vitamin D binding protein	gene	DOID:9006359	Vitamin D Deficiency		ISO	RGD:736902	D	RGD:9068941	20260326	RGD		mRNA:increased expression:placenta	PMID:25448751|REF_RGD_ID:632518022
8741120	Gc	GC vitamin D binding protein	gene	DOID:9006359	Vitamin D Deficiency	susceptibility	ISO	RGD:736902	D	RGD:9068941	20260314	RGD		associated with cystic fibrosis, or cystic fibrosis and exocrine pancreatic insufficiency;DNA:SNPs, haplotypes:exon:rs7041, rs4588	PMID:39599636|REF_RGD_ID:640476624
8741120	Gc	GC vitamin D binding protein	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:736902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
8741120	Gc	GC vitamin D binding protein	gene	DOID:9006956	nephrotoxicity	treatment	ISO	RGD:2667	D	RGD:9068941	20230622	RGD			PMID:37244046|REF_RGD_ID:329853759
8741120	Gc	GC vitamin D binding protein	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16099942
8741120	Gc	GC vitamin D binding protein	gene	DOID:9007425	Diffuse Panbronchiolitis	no_association	ISO	RGD:736902	D	RGD:9068941	20260319	RGD		DNA:SNPs, haplotype:exon:rs4588, rs7041	PMID:11757623|REF_RGD_ID:640476632
8741120	Gc	GC vitamin D binding protein	gene	DOID:9007651	Chronic Bronchitis	susceptibility	ISO	RGD:736902	D	RGD:9068941	20200609	RGD			PMID:12096683|REF_RGD_ID:5129516
8741120	Gc	GC vitamin D binding protein	gene	DOID:9009420	Respiratory syncytial virus bronchiolitis	susceptibility	ISO	RGD:736902	D	RGD:9068941	20260312	RGD		DNA:SNPs, haplotype: :rs7041	PMID:24447085|REF_RGD_ID:636653134
8741120	Gc	GC vitamin D binding protein	gene	DOID:9009421	steroid-resistant asthma	susceptibility	ISO	RGD:736902	D	RGD:9068941	20260312	RGD		protein:increased expression:blood serum	PMID:27109820|REF_RGD_ID:640469342
8741120	Gc	GC vitamin D binding protein	gene	DOID:9351	diabetes mellitus		ISO	RGD:736902	D	RGD:9068941	20200609	RGD		protein:increased expression:ascitic fluid	PMID:20054029|REF_RGD_ID:5509921
8741120	Gc	GC vitamin D binding protein	gene	DOID:9351	diabetes mellitus		ISO	RGD:736902	D	RGD:9068941	20260326	RGD		associated with pulmonary tuberculosis;protein:increased expression:blood plasma	PMID:26642710|REF_RGD_ID:640480040
8741120	Gc	GC vitamin D binding protein	gene	DOID:9415	allergic asthma		ISO	RGD:736902	D	RGD:9068941	20260305	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:24730464|REF_RGD_ID:636657168
8741120	Gc	GC vitamin D binding protein	gene	DOID:9477	pulmonary embolism		ISO	RGD:2667	D	RGD:9068941	20260328	RGD		protein, mRNA:decreased expression:blood serum, liver	PMID:17203959|REF_RGD_ID:1626365
8741120	Gc	GC vitamin D binding protein	gene	DOID:9563	bronchiectasis		ISO	RGD:736902	D	RGD:9068941	20260312	RGD		associated with alpha 1-antitrypsin deficiency;DNA:SNPs: :rs7041, rs2070741, rs2298849	PMID:21228423|REF_RGD_ID:640476612
8741120	Gc	GC vitamin D binding protein	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:736902	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:p.D416E(human)	PMID:11239517|REF_RGD_ID:2315558
8741138	Cacng8	calcium voltage-gated channel auxiliary subunit gamma 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8741138	Cacng8	calcium voltage-gated channel auxiliary subunit gamma 8	gene	DOID:10939	antisocial personality disorder		ISO	RGD:732323	D	RGD:9068941	20220825	MouseDO			
8741138	Cacng8	calcium voltage-gated channel auxiliary subunit gamma 8	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732322	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:left ventricule:	PMID:26710323|REF_RGD_ID:11353143
8741138	Cacng8	calcium voltage-gated channel auxiliary subunit gamma 8	gene	DOID:5041	esophageal cancer		ISO	RGD:732322	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8741147	Trim36	tripartite motif containing 36	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8741147	Trim36	tripartite motif containing 36	gene	DOID:0060668	anencephaly		ISO	RGD:1318648	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anencephaly	
8741147	Trim36	tripartite motif containing 36	gene	DOID:1324	lung cancer		ISO	RGD:1318648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8741147	Trim36	tripartite motif containing 36	gene	DOID:1909	melanoma		ISO	RGD:1318648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8741147	Trim36	tripartite motif containing 36	gene	DOID:3070	high grade glioma		ISO	RGD:1318648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8741147	Trim36	tripartite motif containing 36	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8741147	Trim36	tripartite motif containing 36	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741147	Trim36	tripartite motif containing 36	gene	DOID:9009020	Anencephaly 1		ISO	RGD:1318648	D	RGD:7240710	20210728	OMIM			
8741147	Trim36	tripartite motif containing 36	gene	DOID:9009020	Anencephaly 1		ISO	RGD:1318648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anencephaly 1 | ClinVar Annotator: match by term: TRIM36-related condition	PMID:25741868
8741147	Trim36	tripartite motif containing 36	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8741178	Nmt1	N-myristoyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8741178	Nmt1	N-myristoyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8741178	Nmt1	N-myristoyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8741178	Nmt1	N-myristoyltransferase 1	gene	DOID:1115	sarcoma		ISO	RGD:1352076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8741178	Nmt1	N-myristoyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1352076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8741178	Nmt1	N-myristoyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8741178	Nmt1	N-myristoyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1352076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8741178	Nmt1	N-myristoyltransferase 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1352076	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
8741178	Nmt1	N-myristoyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8741178	Nmt1	N-myristoyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8741204	Synpr	synaptoporin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8741213	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8741213	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8741213	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:10534	stomach cancer		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8741213	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8741213	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:1115	sarcoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8741213	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:1324	lung cancer		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8741213	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:1909	melanoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8741213	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8741213	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:3275	thymoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8741213	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8741213	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1321777	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8741213	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8741213	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741213	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8741213	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8741213	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8741213	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8741213	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8741246	Sharpin	SHANK associated RH domain interactor	gene	DOID:1115	sarcoma		ISO	RGD:1603608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8741246	Sharpin	SHANK associated RH domain interactor	gene	DOID:2394	ovarian cancer		ISO	RGD:1603608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8741246	Sharpin	SHANK associated RH domain interactor	gene	DOID:2723	dermatitis		ISO	RGD:1603608	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19650867
8741246	Sharpin	SHANK associated RH domain interactor	gene	DOID:3310	atopic dermatitis		ISO	RGD:1549996	D	RGD:9068941	20220825	MouseDO		OMIM:603165	
8741246	Sharpin	SHANK associated RH domain interactor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741246	Sharpin	SHANK associated RH domain interactor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8741246	Sharpin	SHANK associated RH domain interactor	gene	DOID:9001371	Eosinophilia		ISO	RGD:1603608	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19650867
8741246	Sharpin	SHANK associated RH domain interactor	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8741246	Sharpin	SHANK associated RH domain interactor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8741246	Sharpin	SHANK associated RH domain interactor	gene	DOID:9007676	AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION		ISO	RGD:1603608	D	RGD:7240710	20240515	OMIM			
8741246	Sharpin	SHANK associated RH domain interactor	gene	DOID:9007676	AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION		ISO	RGD:1603608	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION	
8741262	Styxl2	serine/threonine/tyrosine interacting like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8741262	Styxl2	serine/threonine/tyrosine interacting like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741306	Rtn3	reticulon 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8741306	Rtn3	reticulon 3	gene	DOID:1324	lung cancer		ISO	RGD:1349287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8741306	Rtn3	reticulon 3	gene	DOID:1909	melanoma		ISO	RGD:1349287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8741306	Rtn3	reticulon 3	gene	DOID:3070	high grade glioma		ISO	RGD:1349287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8741306	Rtn3	reticulon 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8741306	Rtn3	reticulon 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741306	Rtn3	reticulon 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8741306	Rtn3	reticulon 3	gene	DOID:784	chronic kidney disease		ISO	RGD:1551155	D	RGD:9068941	20241024	MouseDO			
8741306	Rtn3	reticulon 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8741306	Rtn3	reticulon 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349287	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:16199547|PMID:28492532
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:0070013	Seckel syndrome 2		ISO	RGD:1317354	D	RGD:7240710	20180130	OMIM			
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:0070013	Seckel syndrome 2		ISO	RGD:1317354	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RBBP8-Related Disorders | ClinVar Annotator: match by term: SECKEL SYNDROME 2 | ClinVar Annotator: match by term: SECKEL-TYPE DWARFISM 2 | ClinVar Annotator: match by term: Seckel syndrome 2	PMID:16199547|PMID:18414213|PMID:24389050|PMID:25741868|PMID:27848944|PMID:28492532
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:0080600	COVID-19		ISO	RGD:1317354	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:10534	stomach cancer		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:10907	microcephaly		ISO	RGD:1317354	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:1115	sarcoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:11830	myopia		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:3275	thymoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:4362	cervical cancer		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:4905	pancreatic carcinoma		ISO	RGD:1317354	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Carcinoma of pancreas	PMID:28492532
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:5041	esophageal cancer		ISO	RGD:1317354	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:630	genetic disease		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33057194|PMID:35982159
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:9004304	Plummer-Vinson Syndrome		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: KELLY SYNDROME	PMID:25741868|PMID:28492532
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:9008107	Microcephaly with Mental Retardation and Digital Anomalies		ISO	RGD:1317354	D	RGD:7240710	20180130	OMIM			
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:9008107	Microcephaly with Mental Retardation and Digital Anomalies		ISO	RGD:1317354	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: JAWAD SYNDROME | ClinVar Annotator: match by term: Jawad syndrome | ClinVar Annotator: match by term: KELLY SYNDROME | ClinVar Annotator: match by term: RBBP8-related condition | ClinVar Annotator: match by term: RBBP8-related disorder	PMID:17576681|PMID:18414213|PMID:25741868|PMID:28492532|PMID:9536098
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8741319	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:9538	multiple myeloma	exacerbates	ISO	RGD:1317354	D	RGD:9068941	20240104	RGD		mRNA:increased expression:bone marrow, plasma cell (human)	PMID:30622325|REF_RGD_ID:401940173
8741357	Nrxn2	neurexin 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NRXN2-related autism spectrum disorder	
8741357	Nrxn2	neurexin 2	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
8741357	Nrxn2	neurexin 2	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:735900	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1	
8741357	Nrxn2	neurexin 2	gene	DOID:1059	intellectual disability		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency	PMID:25741868
8741357	Nrxn2	neurexin 2	gene	DOID:1115	sarcoma		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8741357	Nrxn2	neurexin 2	gene	DOID:12849	autistic disorder		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:21424692|PMID:21600320|PMID:25423136|PMID:25741868|PMID:25745399
8741357	Nrxn2	neurexin 2	gene	DOID:1324	lung cancer		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8741357	Nrxn2	neurexin 2	gene	DOID:1882	atrial heart septal defect		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: atrial septal defect	
8741357	Nrxn2	neurexin 2	gene	DOID:1909	melanoma		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8741357	Nrxn2	neurexin 2	gene	DOID:3070	high grade glioma		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8741357	Nrxn2	neurexin 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8741357	Nrxn2	neurexin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:735900	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8741357	Nrxn2	neurexin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741357	Nrxn2	neurexin 2	gene	DOID:6039	uveal melanoma		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868
8741357	Nrxn2	neurexin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8741357	Nrxn2	neurexin 2	gene	DOID:9005466	Language Development Disorders		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:21424692|PMID:21600320|PMID:25423136|PMID:25741868|PMID:25745399
8741357	Nrxn2	neurexin 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
8741357	Nrxn2	neurexin 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8741357	Nrxn2	neurexin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8741357	Nrxn2	neurexin 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21424692|PMID:21600320|PMID:25423136|PMID:25741868|PMID:25745399
8741357	Nrxn2	neurexin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8741357	Nrxn2	neurexin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
8741413	Coq7	coenzyme Q7, hydroxylase	gene	DOID:0060859	salmonellosis	susceptibility	ISO	RGD:10379	D	RGD:9068941	20200609	RGD			PMID:23166727|REF_RGD_ID:10402105
8741413	Coq7	coenzyme Q7, hydroxylase	gene	DOID:0070245	primary coenzyme Q10 deficiency 8		ISO	RGD:737189	D	RGD:7240710	20190315	OMIM			
8741413	Coq7	coenzyme Q7, hydroxylase	gene	DOID:0070245	primary coenzyme Q10 deficiency 8		ISO	RGD:737189	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COENZYME Q10 DEFICIENCY, PRIMARY, 8 | ClinVar Annotator: match by term: COQ7-related condition | ClinVar Annotator: match by term: COQ7-related disorder | ClinVar Annotator: match by term: Primary coenzyme Q10 deficiency 8	PMID:25741868|PMID:28492532|PMID:30369941|PMID:31240163|PMID:32963807|PMID:35094435|PMID:35370630|PMID:35782625|PMID:36758993|PMID:37170631|PMID:37392700
8741413	Coq7	coenzyme Q7, hydroxylase	gene	DOID:0081428	autosomal recessive distal hereditary motor neuronopathy 9		ISO	RGD:737189	D	RGD:7240710	20231025	OMIM			
8741413	Coq7	coenzyme Q7, hydroxylase	gene	DOID:0081428	autosomal recessive distal hereditary motor neuronopathy 9		ISO	RGD:737189	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 9	PMID:25741868|PMID:35782625|PMID:36758993
8741413	Coq7	coenzyme Q7, hydroxylase	gene	DOID:1324	lung cancer		ISO	RGD:737189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8741413	Coq7	coenzyme Q7, hydroxylase	gene	DOID:224	transient cerebral ischemia	severity	ISO	RGD:10379	D	RGD:9068941	20200609	RGD			PMID:20170652|REF_RGD_ID:10402096
8741413	Coq7	coenzyme Q7, hydroxylase	gene	DOID:3275	thymoma		ISO	RGD:737189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8741413	Coq7	coenzyme Q7, hydroxylase	gene	DOID:4362	cervical cancer		ISO	RGD:737189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8741413	Coq7	coenzyme Q7, hydroxylase	gene	DOID:5041	esophageal cancer		ISO	RGD:737189	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8741413	Coq7	coenzyme Q7, hydroxylase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8741413	Coq7	coenzyme Q7, hydroxylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741413	Coq7	coenzyme Q7, hydroxylase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8741413	Coq7	coenzyme Q7, hydroxylase	gene	DOID:890	mitochondrial encephalomyopathy		ISO	RGD:10379	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart (mouse)	PMID:23255162|REF_RGD_ID:10402107
8741413	Coq7	coenzyme Q7, hydroxylase	gene	DOID:9002644	Premature Aging		ISO	RGD:10379	D	RGD:9068941	20200609	RGD			PMID:19478076|REF_RGD_ID:10402088
8741413	Coq7	coenzyme Q7, hydroxylase	gene	DOID:9003690	Carcinoma, Lewis Lung	susceptibility	ISO	RGD:10379	D	RGD:9068941	20200609	RGD			PMID:23166727|REF_RGD_ID:10402105
8741413	Coq7	coenzyme Q7, hydroxylase	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:2381	D	RGD:9068941	20200609	RGD		associated with Hypertension;protein:altered expression:heart	PMID:17130255|REF_RGD_ID:2313649
8741413	Coq7	coenzyme Q7, hydroxylase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8741413	Coq7	coenzyme Q7, hydroxylase	gene	DOID:9007346	Cachexia	susceptibility	ISO	RGD:10379	D	RGD:9068941	20200609	RGD			PMID:23166727|REF_RGD_ID:10402105
8741444	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1345647	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:25848748
8741444	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:0050671	female breast cancer	susceptibility	ISO	RGD:1345647	D	RGD:9068941	20220609	RGD		DNA:missense mutation:cds: (human)	PMID:30303537|REF_RGD_ID:152995259
8741444	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:0070022	autosomal recessive dyskeratosis congenita 5		ISO	RGD:1345647	D	RGD:7240710	20180130	OMIM			
8741444	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:0070022	autosomal recessive dyskeratosis congenita 5		ISO	RGD:1345647	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5	PMID:16199547|PMID:19461895|PMID:23453664|PMID:23959892|PMID:25607374|PMID:25640679|PMID:27418648|PMID:28492532
8741444	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:1345647	D	RGD:9068941	20220609	RGD		DNA:SNP:cds:rs2297441|rs3208008 (human)	PMID:31762827|REF_RGD_ID:152995257
8741444	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:10325	silicosis		ISO	RGD:1306721	D	RGD:9068941	20220609	RGD		mRNA:decreased expression:lung (rat)	PMID:29230030|REF_RGD_ID:152977761
8741444	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:1324	lung cancer	ameliorates	ISO	RGD:1345647	D	RGD:9068941	20220609	RGD		DNA:SNP:cds:rs2738789 (human)	PMID:27765928|REF_RGD_ID:152993553
8741444	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1345647	D	RGD:9068941	20220609	RGD		DNA:SNP:cds:rs7261546|rs6062299|rs3787098 (human)	PMID:27765928|REF_RGD_ID:152993553
8741444	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1345647	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
8741444	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:1909	melanoma		ISO	RGD:1345647	D	RGD:9068941	20220610	RGD		DNA:SNP:cds:rs75691080 (human)	PMID:25231748|REF_RGD_ID:152995261
8741444	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1345647	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19578366|PMID:19578367
8741444	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:3079	childhood astrocytic tumor	ameliorates	ISO	RGD:1345647	D	RGD:9068941	20220609	RGD		DNA:SNP:cds:rs6089953|rs6010620|rs2297440 (human)	PMID:26014354|REF_RGD_ID:152985535
8741444	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:3079	childhood astrocytic tumor	susceptibility	ISO	RGD:1345647	D	RGD:9068941	20220609	RGD		DNA:SNP:cds:rs4809324 (human)	PMID:26014354|REF_RGD_ID:152985535
8741444	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:3083	chronic obstructive pulmonary disease	ameliorates	ISO	RGD:1345647	D	RGD:9068941	20220609	RGD		DNA:SNP:cds:rs4809324 (human)	PMID:28360516|REF_RGD_ID:152985694
8741444	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:3717	gastric adenocarcinoma	susceptibility	ISO	RGD:1345647	D	RGD:9068941	20220609	RGD		DNA:amplification:cds: (human)	PMID:27366209|REF_RGD_ID:152995256
8741444	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:5076	mixed glioma	susceptibility	ISO	RGD:1345647	D	RGD:9068941	20220609	RGD		DNA:SNPs:multiple:multiple (human)	PMID:30462709|REF_RGD_ID:152977767
8741444	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:9000528	Coronary Disease	ameliorates	ISO	RGD:1345647	D	RGD:9068941	20220609	RGD		DNA:SNP:cds:rs6010620|rs4809324 (human)	PMID:30623606|REF_RGD_ID:152985693
8741444	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:9001272	Hoyeraal-Hreidarsson Syndrome		ISO	RGD:1345647	D	RGD:9068941	20220609	RGD		DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human)	PMID:23959892|REF_RGD_ID:152977765
8741444	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1345647	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28604730
8741444	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:9008668	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3		ISO	RGD:1345647	D	RGD:7240710	20180130	OMIM			
8741495	Rhoj	ras homolog family member J	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1321483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21037199
8741495	Rhoj	ras homolog family member J	gene	DOID:10534	stomach cancer		ISO	RGD:1321483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8741495	Rhoj	ras homolog family member J	gene	DOID:1115	sarcoma		ISO	RGD:1321483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8741495	Rhoj	ras homolog family member J	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8741495	Rhoj	ras homolog family member J	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1321483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
8741504	Wnt8b	Wnt family member 8B	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1316953	D	RGD:9068941	20200609	RGD			PMID:20972907|REF_RGD_ID:12801434
8741504	Wnt8b	Wnt family member 8B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:0061186	long chain 3-hydroxyacyl-CoA dehydrogenase deficiency		ISO	RGD:733877	D	RGD:7240710	20180130	OMIM			
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:0061186	long chain 3-hydroxyacyl-CoA dehydrogenase deficiency		ISO	RGD:733877	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase | ClinVar Annotator: match by term: LCHAD DEFICIENCY | ClinVar Annotator: match by term: LCHAD Deficiency | ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	PMID:10352164|PMID:11243734|PMID:12237653|PMID:12809642|PMID:14630990|PMID:14694500|PMID:15902556|PMID:16040264|PMID:16199547|PMID:17576681|PMID:19433283|PMID:19852779|PMID:21103935|PMID:21549624|PMID:22065858|PMID:22459206|PMID:23596069|PMID:23798014|PMID:23868323|PMID:25087612|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26109258|PMID:27491397|PMID:28492532|PMID:29124685|PMID:29268767|PMID:30682426|PMID:32253025|PMID:32337335|PMID:32778825|PMID:33123633|PMID:33610471|PMID:33638202|PMID:34578803|PMID:34878152|PMID:35281663|PMID:37184518|PMID:37549033|PMID:38263760|PMID:38623632|PMID:39088276|PMID:39210374|PMID:39687448|PMID:7738175|PMID:9536098|PMID:9739053
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:0070619	mitochondrial trifunctional protein deficiency 1		ISO	RGD:733877	D	RGD:7240710	20230505	OMIM			
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:0070619	mitochondrial trifunctional protein deficiency 1		ISO	RGD:733877	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 1 WITH MYOPATHY AND NEUROPATHY | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 1 | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 1 with myopathy and neuropathy	PMID:10352164|PMID:17576681|PMID:21549624|PMID:23596069|PMID:23868323|PMID:25741868|PMID:26109258|PMID:27491397|PMID:28492532|PMID:29268767|PMID:30682426|PMID:32253025|PMID:32337335|PMID:33123633|PMID:33610471|PMID:33638202|PMID:34578803|PMID:38263760|PMID:39210374|PMID:39687448|PMID:7738175|PMID:9536098|PMID:9739053
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:620512	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:24782632|REF_RGD_ID:14694831
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:0080600	COVID-19		ISO	RGD:733877	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:0111277	mitochondrial trifunctional protein deficiency		ISO	RGD:733877	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HADHA-related condition | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency	PMID:10352164|PMID:14630990|PMID:17576681|PMID:21549624|PMID:23596069|PMID:23868323|PMID:25525159|PMID:25741868|PMID:26109258|PMID:27491397|PMID:28492532|PMID:29268767|PMID:30682426|PMID:32253025|PMID:32337335|PMID:33123633|PMID:33610471|PMID:33638202|PMID:34578803|PMID:38263760|PMID:39210374|PMID:39687448|PMID:7738175|PMID:9536098|PMID:9739053
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733877	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:25260493|REF_RGD_ID:10047114
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:423	myopathy		ISO	RGD:733877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:630	genetic disease		ISO	RGD:733877	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:30682426|PMID:33638202|PMID:38263760|PMID:39210374|PMID:39687448
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:7319	axonal neuropathy		ISO	RGD:733877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensory axonal neuropathy	PMID:25741868
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:8398	osteoarthritis		ISO	RGD:733877	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:9000053	Headache		ISO	RGD:733877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:25741868
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:733877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhabdomyolysis	PMID:25741868
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:9001109	Anorexia		ISO	RGD:733877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anorexia	PMID:25741868
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:9001733	Tinnitus		ISO	RGD:733877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:620512	D	RGD:9068941	20200609	RGD		mRNA:decreased expression	PMID:11124150|REF_RGD_ID:1599884
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:9003760	Myalgia		ISO	RGD:733877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1552757	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:25260493|REF_RGD_ID:10047114
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:733877	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:733877	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8741513	Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:9452	steatotic liver disease		ISO	RGD:733877	D	RGD:9068941	20200609	RGD		DNA:point mutations: ;1132C>T,1528G>C;LCHAD deficiency,OMIM:609015	PMID:7846063|REF_RGD_ID:1599882
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:0050160	inhalation anthrax	disease_progression	ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:21124994|REF_RGD_ID:5135283
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:28824718|REF_RGD_ID:27095887
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver,serum	PMID:25048951|REF_RGD_ID:27095890
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	severity	ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:25048951|REF_RGD_ID:27095890
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:0080599	Coronavirus infectious disease		ISO	RGD:1550709	D	RGD:9068941	20200618	RGD			PMID:19626487|PMID:19906920|REF_RGD_ID:27095957|REF_RGD_ID:4891446
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:0080600	COVID-19		ISO	RGD:1352024	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:0080600	COVID-19		ISO	RGD:1352024	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:0080600	COVID-19		ISO	RGD:1352024	D	RGD:9068941	20200820	RGD		protein:increased expression:plasma (human)	PMID:32696007|REF_RGD_ID:38501088
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:0080600	COVID-19		ISO	RGD:1352024	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:31986264
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1352024	D	RGD:9068941	20200619	RGD		protein:increased expression:plasma (human)	PMID:31986264|PMID:32360286|REF_RGD_ID:30309209|REF_RGD_ID:30309212
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1352024	D	RGD:9068941	20230302	RGD			PMID:32427582|REF_RGD_ID:30309200
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:0080642	Middle East respiratory syndrome		ISO	RGD:1550709	D	RGD:9068941	20200618	RGD			PMID:30626685|REF_RGD_ID:30309198
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:intestine, liver, lung	PMID:19218194|REF_RGD_ID:5135435
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:0081292	traumatic brain injury	treatment	ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:26435412|REF_RGD_ID:27095897
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:10247	pleurisy		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:14527170|REF_RGD_ID:5135449
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:10459	common cold		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:15764644|REF_RGD_ID:5135489
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:10533	viral pneumonia		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:17655904|REF_RGD_ID:5135437
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:10608	celiac disease		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:620209	D	RGD:9068941	20200609	RGD			PMID:9288136|REF_RGD_ID:2311389
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18422935
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:18624292|REF_RGD_ID:5135483
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29114965
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:13141	uveitis		ISO	RGD:620209	D	RGD:9068941	20200609	RGD			PMID:16505038|REF_RGD_ID:2311384
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:9834133|REF_RGD_ID:5135492
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:17550373|REF_RGD_ID:5135438
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:13580	cholestasis		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		associated with  Chronic Hepatitis C; protein:increased expression:serum:	PMID:30507970|REF_RGD_ID:27095896
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:13949	interstitial cystitis		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18957084
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:13949	interstitial cystitis		ISO	RGD:620209	D	RGD:9068941	20240829	RGD		mRNA:increased expression:urinary bladder	PMID:38842512|REF_RGD_ID:407445927
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:14004	thoracic aortic aneurysm	severity	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		mRNA:increased expression:aorta	PMID:16014397|REF_RGD_ID:5135442
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:14095	boutonneuse fever		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:14507644|REF_RGD_ID:5135450
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:1520	colon carcinoma	treatment	ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:30381616|REF_RGD_ID:27095891
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:1591	renovascular hypertension		ISO	RGD:620209	D	RGD:9068941	20200609	RGD			PMID:17062848|REF_RGD_ID:2311383
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:1883	hepatitis C		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18775023|REF_RGD_ID:27095893
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:1883	hepatitis C	disease_progression	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:24668726|REF_RGD_ID:27095945
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:1883	hepatitis C	treatment	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:25512630|REF_RGD_ID:27095943
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:2043	hepatitis B	disease_progression	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-201G>A(human)	PMID:18325387|REF_RGD_ID:27095959
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:2316	brain ischemia		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15829914
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:2316	brain ischemia		ISO	RGD:620209	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:17549754|REF_RGD_ID:2311381
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:12097412|REF_RGD_ID:5135451
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:12097412|PMID:16709871|REF_RGD_ID:5135441|REF_RGD_ID:5135451
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:2841	asthma		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:16602032|PMID:17302903|REF_RGD_ID:5135439|REF_RGD_ID:5135457
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:2841	asthma		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:11994485|REF_RGD_ID:5135452
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:2917	cryoglobulinemia		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		associated with hepatitis C; protein:increased expression:serum	PMID:18775023|REF_RGD_ID:27095893
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17052299|REF_RGD_ID:5135440
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1352024	D	RGD:9068941	20200702	RGD		protein:increased expression:serum (human)	PMID:15602737|REF_RGD_ID:32716399
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:32364527|REF_RGD_ID:27226699
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1550709	D	RGD:9068941	20200619	RGD		mRNA, protein: increased expression, altered expression:lung (mouse)	PMID:15356152|REF_RGD_ID:30309221
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1550709	D	RGD:9068941	20200619	RGD		protein:increased expression:lung (mouse)	PMID:20231782|REF_RGD_ID:30309216
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung (human)	PMID:19635508|REF_RGD_ID:5490168
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome	severity	ISO	RGD:1352024	D	RGD:9068941	20200619	RGD		mRNA, protein:increased expression:plasma, lung (human)	PMID:16195357|REF_RGD_ID:30309218
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome	severity	ISO	RGD:1352024	D	RGD:9068941	20200619	RGD		mRNA, protein:increased expression:serum, lung (human)	PMID:15657466|REF_RGD_ID:30309219
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome	severity	ISO	RGD:1352024	D	RGD:9068941	20200619	RGD		protein:increased expression:lung (human)	PMID:17129463|REF_RGD_ID:30309217
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome	severity	ISO	RGD:1550709	D	RGD:9068941	20200618	RGD		mRNA:increased expression:lung (mouse)	PMID:32365944|REF_RGD_ID:30309207
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome	treatment	ISO	RGD:1352024	D	RGD:9068941	20200702	RGD			PMID:15781938|PMID:15865221|REF_RGD_ID:30309220|REF_RGD_ID:33769580
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome	treatment	ISO	RGD:1550709	D	RGD:9068941	20200702	RGD			PMID:32553273|REF_RGD_ID:32716426
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:2957	pulmonary tuberculosis	treatment	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:29843631|REF_RGD_ID:27095956
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:3082	interstitial lung disease		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:alveolar macrophage	PMID:19816001|REF_RGD_ID:5135305
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:3082	interstitial lung disease		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19565490|REF_RGD_ID:5135306
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum	PMID:17925429|REF_RGD_ID:5135436
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:326	ischemia		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:16709871|REF_RGD_ID:5135441
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:3310	atopic dermatitis		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:3454	brain infarction		ISO	RGD:620209	D	RGD:9068941	20230216	RGD		protein:increased expression:brain (rat)	PMID:19895873|REF_RGD_ID:2325193
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:10825390|REF_RGD_ID:632989
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:418	systemic scleroderma		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:21049277|REF_RGD_ID:5135284
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:418	systemic scleroderma		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21303517|REF_RGD_ID:5135279
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:4247	coronary restenosis		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:14578618|REF_RGD_ID:1598500
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:437	myasthenia gravis		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:15843529|REF_RGD_ID:1598501
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:5082	liver cirrhosis		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:11418676|REF_RGD_ID:27095892
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:5082	liver cirrhosis	disease_progression	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:29105936|REF_RGD_ID:27095953
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		associated with Chronic Hepatitis B;	PMID:28067328|REF_RGD_ID:27095955
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:27246604|REF_RGD_ID:14995461
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:552	pneumonia		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:15265940|REF_RGD_ID:5135445
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:552	pneumonia		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD		associated with Lupus Erythematosus, Systemic;mRNA:increased expression:lung	PMID:14979941|REF_RGD_ID:5135491
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:576	proteinuria		ISO	RGD:620209	D	RGD:9068941	20200609	RGD			PMID:16382022|REF_RGD_ID:2311386
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:6713	cerebrovascular disease		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29114965
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:28592115|REF_RGD_ID:27095889
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:27245433|REF_RGD_ID:27095899
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:28638480|REF_RGD_ID:27095898
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1352024	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:21811993
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:820	myocarditis		ISO	RGD:620209	D	RGD:9068941	20200609	RGD			PMID:15322218|REF_RGD_ID:1598502
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		mRNA:increased expression:alveolar macrophage	PMID:15725351|REF_RGD_ID:5135490
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:14991597|REF_RGD_ID:5135448
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:874	bacterial pneumonia		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:15618188|REF_RGD_ID:5135459
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:874	bacterial pneumonia	severity	ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:16299319|REF_RGD_ID:5135458
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:17194635|REF_RGD_ID:2311361
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:620209	D	RGD:9068941	20200609	RGD			PMID:19170890|REF_RGD_ID:2311365
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9000238	Acute-On-Chronic Liver Failure	susceptibility	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		associated with  liver cirrhosis;	PMID:29105936|REF_RGD_ID:27095953
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9000998	Brain Injuries		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21549006
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9001488	Human Influenza		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:1550709	D	RGD:9068941	20230701	RGD			PMID:34400126|REF_RGD_ID:329902072
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:18041715|REF_RGD_ID:27095942
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent	PMID:19073786|REF_RGD_ID:2311357
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma	PMID:17425653|REF_RGD_ID:2311359
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9002287	Respiratory Tract Granuloma		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:21273392|REF_RGD_ID:5683877
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9002395	Hypothermia		ISO	RGD:620209	D	RGD:9068941	20200609	RGD			PMID:16469832|REF_RGD_ID:2311385
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9003617	Carrington Syndrome		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:15956791|REF_RGD_ID:5135443
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:16709871|REF_RGD_ID:5135441
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD		associated with Anemia, Sickle Cell;protein:increased expression:lung	PMID:19433855|REF_RGD_ID:5135307
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620209	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:18589091|REF_RGD_ID:2311376
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:31127759|REF_RGD_ID:27095949
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9004283	Transplant Rejection	severity	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:28245475|REF_RGD_ID:27095950
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26037280
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9004590	Acute Liver Failure	treatment	ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:23227188|REF_RGD_ID:27095895
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreatic islet	PMID:17372021|REF_RGD_ID:2311360
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9006262	Cytomegalovirus Infections		ISO	RGD:1352024	D	RGD:9068941	20200820	RGD		protein:increased expression:plasma (human)	PMID:23593305|REF_RGD_ID:38508895
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9006618	Liver Metastasis	treatment	ISO	RGD:1550709	D	RGD:9068941	20200609	RGD		associated with colon carcinoma;	PMID:30381616|REF_RGD_ID:27095891
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:20561238|REF_RGD_ID:5135493
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:620209	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:12909590|REF_RGD_ID:2311388
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11739529
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression: peripheral blood mononuclear cell,serum, sinusoidal endothelium	PMID:18234638|REF_RGD_ID:27095951
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9008163	Chronic Hepatitis B	treatment	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:30660173|REF_RGD_ID:27095888
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9008286	Experimental Autoimmune Myasthenia Gravis		ISO	RGD:620209	D	RGD:9068941	20200609	RGD			PMID:15843529|PMID:19232748|REF_RGD_ID:1598501|REF_RGD_ID:2311364
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9009049	Foot Ulcer		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus	PMID:19509015|REF_RGD_ID:2311355
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:16239557|REF_RGD_ID:27095947
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:19187771|REF_RGD_ID:2311356
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9452	steatotic liver disease		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver,serum	PMID:25048951|REF_RGD_ID:27095890
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9588	encephalitis		ISO	RGD:620209	D	RGD:9068941	20200609	RGD			PMID:18405324|REF_RGD_ID:2311377
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9675	pulmonary emphysema		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, lymphocyte	PMID:15526056|REF_RGD_ID:4892104
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19046227|REF_RGD_ID:2311358
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:16148094|REF_RGD_ID:2311363
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:620209	D	RGD:9068941	20200609	RGD			PMID:16339582|REF_RGD_ID:2311362
8741554	Cxcl10	C-X-C motif chemokine ligand 10	gene	DOID:986	alopecia areata		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22358057
8741563	Grik4	glutamate ionotropic receptor kainate type subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8741563	Grik4	glutamate ionotropic receptor kainate type subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:733741	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8741563	Grik4	glutamate ionotropic receptor kainate type subunit 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8741563	Grik4	glutamate ionotropic receptor kainate type subunit 4	gene	DOID:3070	high grade glioma		ISO	RGD:733741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8741563	Grik4	glutamate ionotropic receptor kainate type subunit 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8741591	Znf395	zinc finger protein 395	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8741591	Znf395	zinc finger protein 395	gene	DOID:10534	stomach cancer		ISO	RGD:1317282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8741591	Znf395	zinc finger protein 395	gene	DOID:1115	sarcoma		ISO	RGD:1317282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8741591	Znf395	zinc finger protein 395	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741591	Znf395	zinc finger protein 395	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8741591	Znf395	zinc finger protein 395	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8741591	Znf395	zinc finger protein 395	gene	DOID:9256	colorectal cancer		ISO	RGD:1317282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8741608	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8741608	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:0080833	laryngomalacia		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
8741608	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
8741608	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:10534	stomach cancer		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8741608	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:1059	intellectual disability		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8741608	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:10907	microcephaly		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8741608	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:1115	sarcoma		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8741608	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:1459	hypothyroidism		ISO	RGD:1303049	D	RGD:9068941	20200609	RGD		mRNA:increased expression:striatum	PMID:10582581|REF_RGD_ID:11522362
8741608	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:4362	cervical cancer		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8741608	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:480	movement disease		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
8741608	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:5041	esophageal cancer		ISO	RGD:1343038	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8741608	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:543	dystonia		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
8741608	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741608	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:6000	congestive heart failure		ISO	RGD:1303049	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:heart, mitochondrion	PMID:24395194|REF_RGD_ID:13464132
8741608	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:6000	congestive heart failure		ISO	RGD:1343038	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:heart	PMID:25022898|REF_RGD_ID:13464131
8741608	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:630	genetic disease		ISO	RGD:1343038	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8741608	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1303049	D	RGD:9068941	20200609	RGD		protein:decreased expression:left ventricle myocardium	PMID:25022898|REF_RGD_ID:13464131
8741608	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1551718	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart	PMID:25022898|REF_RGD_ID:13464131
8741608	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
8741608	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1303049	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina	PMID:23255365|REF_RGD_ID:13463486
8741608	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8741608	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8741632	Mcat	malonyl-CoA-acyl carrier protein transacylase	gene	DOID:10534	stomach cancer		ISO	RGD:1607045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8741632	Mcat	malonyl-CoA-acyl carrier protein transacylase	gene	DOID:1324	lung cancer		ISO	RGD:1607045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8741632	Mcat	malonyl-CoA-acyl carrier protein transacylase	gene	DOID:8501	fundus dystrophy		ISO	RGD:1607045	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
8741632	Mcat	malonyl-CoA-acyl carrier protein transacylase	gene	DOID:9006410	Optic Atrophy 15		ISO	RGD:1607045	D	RGD:7240710	20231206	OMIM			
8741632	Mcat	malonyl-CoA-acyl carrier protein transacylase	gene	DOID:9006410	Optic Atrophy 15		ISO	RGD:1607045	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MCAT-related condition | ClinVar Annotator: match by term: OPTIC ATROPHY 15	PMID:25741868
8741645	Nlgn2	neuroligin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8741645	Nlgn2	neuroligin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8741645	Nlgn2	neuroligin 2	gene	DOID:11446	sciatic neuropathy		ISO	RGD:621118	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:sciatic nerve	PMID:17492651|REF_RGD_ID:9831149
8741645	Nlgn2	neuroligin 2	gene	DOID:12849	autistic disorder		ISO	RGD:732705	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
8741645	Nlgn2	neuroligin 2	gene	DOID:1824	status epilepticus		ISO	RGD:621118	D	RGD:9068941	20200609	RGD			PMID:22539981|REF_RGD_ID:9831126
8741645	Nlgn2	neuroligin 2	gene	DOID:1826	epilepsy		ISO	RGD:732705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: seizure	
8741645	Nlgn2	neuroligin 2	gene	DOID:1909	melanoma		ISO	RGD:732705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8741645	Nlgn2	neuroligin 2	gene	DOID:3275	thymoma		ISO	RGD:732705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8741645	Nlgn2	neuroligin 2	gene	DOID:5419	schizophrenia		ISO	RGD:732706	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
8741645	Nlgn2	neuroligin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741645	Nlgn2	neuroligin 2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:621118	D	RGD:9068941	20200609	RGD			PMID:23891900|REF_RGD_ID:9831150
8741645	Nlgn2	neuroligin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8741645	Nlgn2	neuroligin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8741657	Etv3l	ETS variant transcription factor 3 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8741657	Etv3l	ETS variant transcription factor 3 like	gene	DOID:1324	lung cancer		ISO	RGD:1603450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8741657	Etv3l	ETS variant transcription factor 3 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8741657	Etv3l	ETS variant transcription factor 3 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8741690	Asb11	ankyrin repeat and SOCS box containing 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8741690	Asb11	ankyrin repeat and SOCS box containing 11	gene	DOID:4362	cervical cancer		ISO	RGD:1344351	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8741690	Asb11	ankyrin repeat and SOCS box containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8741690	Asb11	ankyrin repeat and SOCS box containing 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8741711	Crispld1	cysteine rich secretory protein LCCL domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8741711	Crispld1	cysteine rich secretory protein LCCL domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8741711	Crispld1	cysteine rich secretory protein LCCL domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8741711	Crispld1	cysteine rich secretory protein LCCL domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605927	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8741711	Crispld1	cysteine rich secretory protein LCCL domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8741711	Crispld1	cysteine rich secretory protein LCCL domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605927	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8741711	Crispld1	cysteine rich secretory protein LCCL domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8741711	Crispld1	cysteine rich secretory protein LCCL domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741711	Crispld1	cysteine rich secretory protein LCCL domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8741711	Crispld1	cysteine rich secretory protein LCCL domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8741711	Crispld1	cysteine rich secretory protein LCCL domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8741730	Spata24	spermatogenesis associated 24	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:3005862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8741746	Ranbp3	RAN binding protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8741746	Ranbp3	RAN binding protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8741746	Ranbp3	RAN binding protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8741746	Ranbp3	RAN binding protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1313698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8741746	Ranbp3	RAN binding protein 3	gene	DOID:1909	melanoma		ISO	RGD:1313698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8741746	Ranbp3	RAN binding protein 3	gene	DOID:3275	thymoma		ISO	RGD:1313698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8741746	Ranbp3	RAN binding protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1313698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8741746	Ranbp3	RAN binding protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8741746	Ranbp3	RAN binding protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741746	Ranbp3	RAN binding protein 3	gene	DOID:9003566	Mesothelioma		ISO	RGD:1313698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8741746	Ranbp3	RAN binding protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8741746	Ranbp3	RAN binding protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8741787	Catsper1	cation channel sperm associated 1	gene	DOID:0070173	spermatogenic failure 7		ISO	RGD:1321252	D	RGD:7240710	20180130	OMIM			
8741787	Catsper1	cation channel sperm associated 1	gene	DOID:0070173	spermatogenic failure 7		ISO	RGD:1321252	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 7 | ClinVar Annotator: match by term: Spermatogenic failure 7	PMID:19344877|PMID:21255775|PMID:24442342|PMID:25741868|PMID:28492532
8741787	Catsper1	cation channel sperm associated 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8741787	Catsper1	cation channel sperm associated 1	gene	DOID:2746	glycogen storage disease V		ISO	RGD:151729098	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: PYGM DEFICIENCY	PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268
8741787	Catsper1	cation channel sperm associated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741787	Catsper1	cation channel sperm associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8741810	Dnmt3l	DNA methyltransferase 3 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8741810	Dnmt3l	DNA methyltransferase 3 like	gene	DOID:10534	stomach cancer		ISO	RGD:1343645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8741810	Dnmt3l	DNA methyltransferase 3 like	gene	DOID:1909	melanoma		ISO	RGD:1343645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8741810	Dnmt3l	DNA methyltransferase 3 like	gene	DOID:3275	thymoma		ISO	RGD:1343645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8741810	Dnmt3l	DNA methyltransferase 3 like	gene	DOID:8456	choline deficiency disease		ISO	RGD:1303239	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver:	PMID:17724018|REF_RGD_ID:9588267
8741810	Dnmt3l	DNA methyltransferase 3 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8741825	Calml4	calmodulin like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8741825	Calml4	calmodulin like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741825	Calml4	calmodulin like 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:0050632	oculocutaneous albinism		ISO	RGD:1352949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Oculocutaneous albinism	PMID:10649493|PMID:12713581|PMID:12876664|PMID:15712365|PMID:17576681|PMID:18036783|PMID:18463683|PMID:18821858|PMID:19060277|PMID:19865097|PMID:20426782|PMID:21458243|PMID:21541274|PMID:22734612|PMID:23010199|PMID:23504663|PMID:24033266|PMID:24118800|PMID:24361966|PMID:24518832|PMID:24845642|PMID:25412400|PMID:25741868|PMID:25919014|PMID:27734839|PMID:28041643|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28667292|PMID:28976636|PMID:29095814|PMID:29345414|PMID:29437493|PMID:30025130|PMID:31077556|PMID:31196117|PMID:31229681|PMID:31813138|PMID:32552135|PMID:32741191|PMID:33124154|PMID:33612058|PMID:33800529|PMID:33808351|PMID:34707637|PMID:34838614|PMID:35328057|PMID:36087940|PMID:37471664|PMID:37650133|PMID:38030918|PMID:38219857|PMID:40357958|PMID:7874125|PMID:8302318|PMID:9259203|PMID:9345414|PMID:9536098
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:0050633	ocular albinism 1		ISO	RGD:1352949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ocular albinism	PMID:12713581|PMID:18821858|PMID:19865097|PMID:23010199|PMID:23504663|PMID:24033266|PMID:24118800|PMID:24361966|PMID:24518832|PMID:25741868|PMID:25919014|PMID:26165494|PMID:27734839|PMID:28041643|PMID:28266639|PMID:28492532|PMID:28667292|PMID:28976636|PMID:29345414|PMID:29437493|PMID:31077556|PMID:31813138|PMID:32552135|PMID:32741191|PMID:34838614|PMID:37471664|PMID:38030918|PMID:38219857|PMID:40357958
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:0060648	anterior segment dysgenesis		ISO	RGD:1352949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anterior segment dysgenesis	PMID:25741868|PMID:33815692
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:0070096	oculocutaneous albinism type II		ISO	RGD:1352949	D	RGD:7240710	20180130	OMIM			
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:0070096	oculocutaneous albinism type II		ISO	RGD:1352949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE II | ClinVar Annotator: match by term: Albinism, oculocutaneous, type II | ClinVar Annotator: match by term: OCA2 | ClinVar Annotator: match by term: OCA2-related condition | ClinVar Annotator: match by term: Oculocutaneous albinism type 2 | ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism	PMID:10649493|PMID:10671067|PMID:10905897|PMID:10987646|PMID:11464238|PMID:12713581|PMID:12876664|PMID:15173252|PMID:15712365|PMID:16199547|PMID:17160937|PMID:17236130|PMID:17385796|PMID:17568986|PMID:17576681|PMID:17960121|PMID:18326704|PMID:18463683|PMID:18680187|PMID:18821858|PMID:19060277|PMID:19865097|PMID:20019752|PMID:20301410|PMID:20426782|PMID:20861488|PMID:20981092|PMID:21458243|PMID:21541274|PMID:22734612|PMID:23010199|PMID:23103111|PMID:23504663|PMID:23744323|PMID:23824587|PMID:24033266|PMID:24118800|PMID:24361966|PMID:24518832|PMID:24641678|PMID:24845642|PMID:25060099|PMID:25412400|PMID:25455140|PMID:25513726|PMID:25741868|PMID:25809079|PMID:25919014|PMID:26165494|PMID:26474496|PMID:26818737|PMID:27231233|PMID:27468418|PMID:27734839|PMID:27887888|PMID:28041643|PMID:28224992|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28667292|PMID:28976636|PMID:29036293|PMID:29050284|PMID:29095814|PMID:29345414|PMID:29437493|PMID:30025130|PMID:30414346|PMID:30665703|PMID:31077556|PMID:31141302|PMID:31196117|PMID:31229681|PMID:31233279|PMID:31589614|PMID:31719542|PMID:31813138|PMID:32552135|PMID:32741191|PMID:32783370|PMID:32830442|PMID:32966289|PMID:32969595|PMID:33124154|PMID:33144682|PMID:33502802|PMID:33612058|PMID:33800529|PMID:33808351|PMID:33815692|PMID:33974259|PMID:34246199|PMID:34707637|PMID:34838614|PMID:35328057|PMID:35393538|PMID:35488210|PMID:35923705|PMID:35964929|PMID:36087940|PMID:36116698|PMID:36950135|PMID:37431738|PMID:37471664|PMID:37650133|PMID:37882226|PMID:38030918|PMID:38219857|PMID:39143519|PMID:39636647|PMID:40357958|PMID:7762554|PMID:7874125|PMID:8302318|PMID:8980282|PMID:9259203|PMID:9345414|PMID:9536098
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:11830	myopia		ISO	RGD:1352949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:12713581|PMID:18821858|PMID:19865097|PMID:24033266|PMID:24118800|PMID:25741868|PMID:25919014|PMID:28492532|PMID:29437493|PMID:32552135|PMID:34838614|PMID:38219857
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:1324	lung cancer		ISO	RGD:1352949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:13250	diarrhea		ISO	RGD:1352949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:23010199|PMID:24518832|PMID:25741868|PMID:28492532|PMID:28667292|PMID:38030918|PMID:40357958
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:1749	squamous cell carcinoma	susceptibility	ISO	RGD:1352949	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.A481T (rs74653330) (human)	PMID:24617981|REF_RGD_ID:9491831
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:1891	optic nerve disease		ISO	RGD:1352949	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:10905897|PMID:10987646|PMID:11464238|PMID:15712365|PMID:17960121|PMID:18463683|PMID:20019752|PMID:20301410|PMID:20861488|PMID:23744323|PMID:24033266|PMID:24518832|PMID:25513726|PMID:25741868|PMID:26165494|PMID:26474496|PMID:27231233|PMID:27468418|PMID:28451379|PMID:28492532|PMID:28976636|PMID:29345414|PMID:30665703|PMID:31196117|PMID:31233279|PMID:32830442|PMID:32966289|PMID:34246199|PMID:34838614|PMID:36950135|PMID:37431738|PMID:37650133|PMID:8302318|PMID:8980282
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:1909	melanoma		ISO	RGD:1352949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:2513	basal cell carcinoma	susceptibility	ISO	RGD:1352949	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.R419Q (rs1800407) (human)	PMID:19384953|REF_RGD_ID:9491841
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:2513	basal cell carcinoma	susceptibility	ISO	RGD:1352949	D	RGD:9068941	20200609	RGD		DNA:snps:intron:IVS1+132A>G (rs7495174), IVS1+8550A>G (rs11855019), IVS1+15605G>A (rs7174027) (human)	PMID:21270109|REF_RGD_ID:9491840
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1352949	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:630	genetic disease		ISO	RGD:1352949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10649493|PMID:10905897|PMID:10987646|PMID:11464238|PMID:15712365|PMID:17576681|PMID:17960121|PMID:18463683|PMID:20019752|PMID:20301410|PMID:20861488|PMID:21458243|PMID:23010199|PMID:23504663|PMID:23744323|PMID:24033266|PMID:24518832|PMID:24845642|PMID:25513726|PMID:25741868|PMID:26165494|PMID:26474496|PMID:27231233|PMID:27468418|PMID:28041643|PMID:28451379|PMID:28492532|PMID:28667292|PMID:28976636|PMID:29095814|PMID:29345414|PMID:30025130|PMID:30665703|PMID:31077556|PMID:31196117|PMID:31229681|PMID:31233279|PMID:32741191|PMID:32830442|PMID:32966289|PMID:33124154|PMID:33808351|PMID:34246199|PMID:34838614|PMID:36950135|PMID:37431738|PMID:37650133|PMID:38030918|PMID:40357958|PMID:8302318|PMID:8980282|PMID:9259203|PMID:9536098
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:8466	retinal degeneration		ISO	RGD:1352949	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinal degeneration	PMID:10905897|PMID:10987646|PMID:11464238|PMID:15712365|PMID:17960121|PMID:18463683|PMID:20019752|PMID:20301410|PMID:20861488|PMID:23744323|PMID:24033266|PMID:24518832|PMID:25513726|PMID:25741868|PMID:26165494|PMID:26474496|PMID:27231233|PMID:27468418|PMID:28451379|PMID:28492532|PMID:28976636|PMID:29345414|PMID:30665703|PMID:31196117|PMID:31233279|PMID:32830442|PMID:32966289|PMID:34246199|PMID:34838614|PMID:36950135|PMID:37431738|PMID:37650133|PMID:8302318|PMID:8980282
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:8866	actinic keratosis	susceptibility	ISO	RGD:1352949	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.A481T (rs74653330) (human)	PMID:24617981|REF_RGD_ID:9491831
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:8923	skin melanoma	susceptibility	ISO	RGD:1352949	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.H615R (rs1800414) (human)	PMID:24617981|REF_RGD_ID:9491831
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:8923	skin melanoma	susceptibility	ISO	RGD:1352949	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.R419Q (rs1800407) (human)	PMID:19710684|REF_RGD_ID:9491818
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:8923	skin melanoma	susceptibility	ISO	RGD:1352949	D	RGD:9068941	20200609	RGD		DNA:snps:exon, intron:multiple (human)	PMID:15889046|REF_RGD_ID:9491829
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:9000343	Vision Disorders		ISO	RGD:1352949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Visual impairment | ClinVar Annotator: match by term: visual impairment	PMID:23010199|PMID:24518832|PMID:25741868|PMID:28492532|PMID:28667292|PMID:38030918|PMID:40357958
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:9000752	Skin/Hair/Eye Pigmentation, Variation In, 1		ISO	RGD:1352949	D	RGD:7240710	20180130	OMIM			
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:9000752	Skin/Hair/Eye Pigmentation, Variation In, 1		ISO	RGD:1352949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/BROWN EYES | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	PMID:10649493|PMID:10671067|PMID:10905897|PMID:10987646|PMID:11464238|PMID:12713581|PMID:12876664|PMID:15173252|PMID:15712365|PMID:16199547|PMID:17160937|PMID:17385796|PMID:17576681|PMID:17960121|PMID:18326704|PMID:18463683|PMID:18821858|PMID:19060277|PMID:19865097|PMID:20019752|PMID:20301410|PMID:20426782|PMID:20861488|PMID:20981092|PMID:21458243|PMID:21541274|PMID:22734612|PMID:23103111|PMID:23504663|PMID:23744323|PMID:24033266|PMID:24118800|PMID:24361966|PMID:24518832|PMID:24641678|PMID:24845642|PMID:25412400|PMID:25455140|PMID:25513726|PMID:25741868|PMID:25919014|PMID:26165494|PMID:26474496|PMID:27231233|PMID:27468418|PMID:27734839|PMID:27887888|PMID:28041643|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28976636|PMID:29036293|PMID:29095814|PMID:29345414|PMID:29437493|PMID:30025130|PMID:30665703|PMID:31077556|PMID:31196117|PMID:31229681|PMID:31233279|PMID:31589614|PMID:31813138|PMID:32552135|PMID:32741191|PMID:32830442|PMID:32966289|PMID:32969595|PMID:33124154|PMID:33502802|PMID:33612058|PMID:33808351|PMID:34246199|PMID:34707637|PMID:34838614|PMID:36087940|PMID:36116698|PMID:36950135|PMID:37431738|PMID:37471664|PMID:37650133|PMID:38219857|PMID:38926510|PMID:7874125|PMID:8302318|PMID:8980282|PMID:9259203|PMID:9345414|PMID:9536098
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1352949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:23010199|PMID:24518832|PMID:25741868|PMID:28492532|PMID:28667292|PMID:38030918|PMID:40357958
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:9001386	Albinism		ISO	RGD:1352949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Albinism	PMID:10649493|PMID:12713581|PMID:12876664|PMID:17160937|PMID:18463683|PMID:18821858|PMID:19865097|PMID:20426782|PMID:20861488|PMID:22734612|PMID:23010199|PMID:23504663|PMID:23744323|PMID:24033266|PMID:24118800|PMID:24361966|PMID:24518832|PMID:24845642|PMID:25455140|PMID:25741868|PMID:25919014|PMID:26165494|PMID:27734839|PMID:28041643|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28667292|PMID:28976636|PMID:29345414|PMID:29437493|PMID:31077556|PMID:31229681|PMID:31813138|PMID:32552135|PMID:32741191|PMID:32969595|PMID:34707637|PMID:34838614|PMID:37471664|PMID:38030918|PMID:38219857|PMID:40357958|PMID:7874125|PMID:8302318|PMID:9345414
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:9001923	Foveal Hypoplasia		ISO	RGD:1352949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Foveal hypoplasia | ClinVar Annotator: match by term: foveal hypoplasia	PMID:19865097|PMID:21541274|PMID:23010199|PMID:24033266|PMID:24518832|PMID:25741868|PMID:28492532|PMID:28667292|PMID:38030918|PMID:40357958
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:9003119	Nonsyndromic Oculocutaneous Albinism		ISO	RGD:1352949	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism	PMID:10649493|PMID:10671067|PMID:12876664|PMID:17160937|PMID:18463683|PMID:18821858|PMID:20426782|PMID:20861488|PMID:22734612|PMID:23504663|PMID:23744323|PMID:24033266|PMID:24118800|PMID:24361966|PMID:24518832|PMID:24845642|PMID:25741868|PMID:26165494|PMID:27734839|PMID:28266639|PMID:28451379|PMID:28492532|PMID:31077556|PMID:31229681|PMID:33800529|PMID:34707637|PMID:34838614|PMID:35328057|PMID:36116698|PMID:37471664|PMID:37650133|PMID:7874125|PMID:8302318|PMID:9345414
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:9003137	Photophobia		ISO	RGD:1352949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Photophobia	PMID:23010199|PMID:23504663|PMID:24361966|PMID:24518832|PMID:25741868|PMID:27734839|PMID:28266639|PMID:28492532|PMID:28667292|PMID:34838614|PMID:37471664|PMID:38030918|PMID:40357958
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:9004823	Brown Oculocutaneous Albinism		ISO	RGD:1352949	D	RGD:9068941	20260521	RGD		DNA:deletion:exon:699_859del (human)	PMID:11179026|REF_RGD_ID:9491819
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28041643|PMID:28492532|PMID:28976636|PMID:29345414|PMID:32741191
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:9007956	Febrile Seizures		ISO	RGD:1352949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: febrile convulsion	PMID:23010199|PMID:24518832|PMID:25741868|PMID:28492532|PMID:28667292|PMID:38030918|PMID:40357958
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12713581|PMID:18821858|PMID:19865097|PMID:24033266|PMID:24118800|PMID:25741868|PMID:25919014|PMID:28492532|PMID:29437493|PMID:32552135|PMID:34838614|PMID:38219857
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:9008675	Dyskinesias		ISO	RGD:1352949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:23010199|PMID:24518832|PMID:25741868|PMID:28492532|PMID:28667292|PMID:38030918|PMID:40357958
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:9008680	Respiratory Tract Infections		ISO	RGD:1352949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Respiratory tract infection	PMID:23010199|PMID:24518832|PMID:25741868|PMID:28492532|PMID:28667292|PMID:38030918|PMID:40357958
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:9649	congenital nystagmus		ISO	RGD:1352949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital nystagmus	PMID:23010199|PMID:24518832|PMID:25741868|PMID:28492532|PMID:28667292|PMID:38030918|PMID:40357958
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1352949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus | ClinVar Annotator: match by term: Nystagmus | ClinVar Annotator: match by term: Rotary nystagmus | ClinVar Annotator: match by term: nystagmus	PMID:10094567|PMID:15712365|PMID:19865097|PMID:21541274|PMID:23010199|PMID:23504663|PMID:24361966|PMID:24518832|PMID:25741868|PMID:27734839|PMID:28041643|PMID:28266639|PMID:28492532|PMID:28667292|PMID:28976636|PMID:29345414|PMID:32741191|PMID:34838614|PMID:37471664|PMID:38030918|PMID:40357958
8741852	Oca2	OCA2 melanosomal transmembrane protein	gene	DOID:9970	obesity		ISO	RGD:1352949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:12713581|PMID:18821858|PMID:19865097|PMID:24033266|PMID:24118800|PMID:25741868|PMID:25919014|PMID:28492532|PMID:29437493|PMID:32552135|PMID:34838614|PMID:38219857
8741885	Snx19	sorting nexin 19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8741885	Snx19	sorting nexin 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8741885	Snx19	sorting nexin 19	gene	DOID:1115	sarcoma		ISO	RGD:1604682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8741885	Snx19	sorting nexin 19	gene	DOID:1324	lung cancer		ISO	RGD:1604682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
8741885	Snx19	sorting nexin 19	gene	DOID:1909	melanoma		ISO	RGD:1604682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8741885	Snx19	sorting nexin 19	gene	DOID:3275	thymoma		ISO	RGD:1604682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8741885	Snx19	sorting nexin 19	gene	DOID:4362	cervical cancer		ISO	RGD:1604682	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8741885	Snx19	sorting nexin 19	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8741885	Snx19	sorting nexin 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1604682	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8741885	Snx19	sorting nexin 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741885	Snx19	sorting nexin 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8741885	Snx19	sorting nexin 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8741885	Snx19	sorting nexin 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8741908	Tas2r60	taste 2 receptor member 60	gene	DOID:1909	melanoma		ISO	RGD:1347652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21499247
8741911	Fut4	fucosyltransferase 4	gene	DOID:0060903	thrombosis		ISO	RGD:1342617	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16932337
8741917	Mvd	mevalonate diphosphate decarboxylase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:26202976|PMID:30942823|PMID:31449901|PMID:32767669|PMID:33005717|PMID:33491095
8741917	Mvd	mevalonate diphosphate decarboxylase	gene	DOID:10534	stomach cancer		ISO	RGD:736074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:26202976|PMID:30942823|PMID:31449901|PMID:32767669|PMID:33005717|PMID:33491095
8741917	Mvd	mevalonate diphosphate decarboxylase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8741917	Mvd	mevalonate diphosphate decarboxylase	gene	DOID:1324	lung cancer		ISO	RGD:736074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:26202976|PMID:30942823|PMID:31449901|PMID:32767669|PMID:33005717|PMID:33491095
8741917	Mvd	mevalonate diphosphate decarboxylase	gene	DOID:1909	melanoma		ISO	RGD:736074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8741917	Mvd	mevalonate diphosphate decarboxylase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:26202976|PMID:30942823|PMID:31449901|PMID:32767669|PMID:33005717|PMID:33491095
8741917	Mvd	mevalonate diphosphate decarboxylase	gene	DOID:3275	thymoma		ISO	RGD:736074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:26202976|PMID:30942823|PMID:31449901|PMID:32767669|PMID:33005717|PMID:33491095
8741917	Mvd	mevalonate diphosphate decarboxylase	gene	DOID:3805	porokeratosis		ISO	RGD:736074	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Linear porokeratosis	PMID:25741868|PMID:26202976|PMID:30942823|PMID:31449901|PMID:32767669|PMID:33005717|PMID:33491095
8741917	Mvd	mevalonate diphosphate decarboxylase	gene	DOID:4362	cervical cancer		ISO	RGD:736074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26202976|PMID:30942823|PMID:31449901|PMID:32767669|PMID:33005717|PMID:33491095
8741917	Mvd	mevalonate diphosphate decarboxylase	gene	DOID:5041	esophageal cancer		ISO	RGD:736074	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:26202976|PMID:30942823|PMID:31449901|PMID:32767669|PMID:33005717|PMID:33491095
8741917	Mvd	mevalonate diphosphate decarboxylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26202976|PMID:30942823|PMID:31449901|PMID:32767669|PMID:33005717|PMID:33491095
8741917	Mvd	mevalonate diphosphate decarboxylase	gene	DOID:9000411	Porokeratosis 7, Multiple Types		ISO	RGD:736074	D	RGD:7240710	20180130	OMIM			
8741917	Mvd	mevalonate diphosphate decarboxylase	gene	DOID:9000411	Porokeratosis 7, Multiple Types		ISO	RGD:736074	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MVD-related condition | ClinVar Annotator: match by term: POROK7 | ClinVar Annotator: match by term: POROKERATOSIS 7, MULTIPLE TYPES | ClinVar Annotator: match by term: Porokeratosis 7, multiple types	PMID:25741868|PMID:26202976|PMID:27422687|PMID:29722423|PMID:30942823|PMID:31449901|PMID:32767669|PMID:33005717|PMID:33491095|PMID:38283795
8741917	Mvd	mevalonate diphosphate decarboxylase	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:736075	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:25168180|REF_RGD_ID:13782271
8741917	Mvd	mevalonate diphosphate decarboxylase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:736074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8741917	Mvd	mevalonate diphosphate decarboxylase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8741917	Mvd	mevalonate diphosphate decarboxylase	gene	DOID:9256	colorectal cancer		ISO	RGD:736074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:26202976|PMID:30942823|PMID:31449901|PMID:32767669|PMID:33005717|PMID:33491095
8741949	Chrd	chordin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8741949	Chrd	chordin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8741949	Chrd	chordin	gene	DOID:10534	stomach cancer		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8741949	Chrd	chordin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8741949	Chrd	chordin	gene	DOID:1115	sarcoma		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8741949	Chrd	chordin	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1550370	D	RGD:9068941	20220825	MouseDO		OMIM:188400	
8741949	Chrd	chordin	gene	DOID:12583	velocardiofacial syndrome		ISO	RGD:1550370	D	RGD:9068941	20220825	MouseDO		OMIM:192430	
8741949	Chrd	chordin	gene	DOID:2394	ovarian cancer		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8741949	Chrd	chordin	gene	DOID:3275	thymoma		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8741949	Chrd	chordin	gene	DOID:4362	cervical cancer		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8741949	Chrd	chordin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8741949	Chrd	chordin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8741949	Chrd	chordin	gene	DOID:5041	esophageal cancer		ISO	RGD:1348275	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8741949	Chrd	chordin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8741949	Chrd	chordin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8741949	Chrd	chordin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8741949	Chrd	chordin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:69426	D	RGD:9068941	20231026	RGD		DNA, mRNA:hypomethylation, increased expression:ventral tegmental area, prefrontal cortex	PMID:29678771|REF_RGD_ID:401851055
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:0050741	alcohol dependence		ISO	RGD:69426	D	RGD:9068941	20250710	RGD		mRNA:increased expression:amygdala	PMID:21507157|REF_RGD_ID:617148290
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:0050741	alcohol dependence		ISO	RGD:69478	D	RGD:9068941	20231021	RGD		DNA:SNPs:intron:multiple	PMID:16924269|REF_RGD_ID:401850571
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:0050741	alcohol dependence		ISO	RGD:69478	D	RGD:9068941	20231021	RGD		mRNA:increased expression:orbitofrontal cortex	PMID:21955155|REF_RGD_ID:401850584
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:0050741	alcohol dependence		ISO	RGD:69478	D	RGD:9068941	20240229	RGD		DNA:SNP,haplotype:multiple (multiple GGCTTCT) (human)	PMID:17622222|REF_RGD_ID:401976552
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:0050741	alcohol dependence	no_association	ISO	RGD:69478	D	RGD:9068941	20231021	RGD		DNA:SNP: :rs6473797 (human)	PMID:24035285|REF_RGD_ID:401850579
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:0060001	withdrawal disorder		ISO	RGD:69426	D	RGD:9068941	20231021	RGD		mRNA:increased expression:bed nucleus of stria terminalis	PMID:30075159|REF_RGD_ID:401850573
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:0060001	withdrawal disorder		ISO	RGD:69478	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20232057|PMID:9463367
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:0060001	withdrawal disorder	treatment	ISO	RGD:69426	D	RGD:9068941	20200609	RGD			PMID:22515275|REF_RGD_ID:9834942
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:11206	opioid abuse		ISO	RGD:69478	D	RGD:9068941	20231021	RGD		mRNA:decreased expression:peripheral blood lymphocyte	PMID:31710992|REF_RGD_ID:401850570
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:11206	opioid abuse	severity	ISO	RGD:69478	D	RGD:9068941	20240229	RGD		DNA:SNP:CDS: rs997917|rs12548098|rs6473797|rs963549 (human)	PMID:37146669|REF_RGD_ID:401976452
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:11832	visual epilepsy		ISO	RGD:69478	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:1675896|PMID:18042875
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:69426	D	RGD:9068941	20240222	RGD		associated with stress-related disorder; mRNA:decreased expression:dorsal striatum (rat)	PMID:28511993|REF_RGD_ID:401976432
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:1574	alcohol use disorder	no_association	ISO	RGD:69478	D	RGD:9068941	20231021	RGD		DNA:SNP: :rs997917 (human)	PMID:37177778|REF_RGD_ID:401850581
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:1574	alcohol use disorder	severity	ISO	RGD:69478	D	RGD:9068941	20231012	RGD		DNA:SNP, haplotype: :rs6473797 (human)	PMID:31004399|REF_RGD_ID:401831037
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:1574	alcohol use disorder	susceptibility	ISO	RGD:69478	D	RGD:9068941	20231021	RGD		DNA:SNP: :rs6473797 (human)	PMID:37177778|REF_RGD_ID:401850581
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:1596	depressive disorder	severity	ISO	RGD:69478	D	RGD:9068941	20231021	RGD		associated with alcohol use disorder;DNA:SNP: :rs963549 (human)	PMID:37177778|REF_RGD_ID:401850581
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:2559	opiate dependence		ISO	RGD:69478	D	RGD:9068941	20240229	RGD		DNA:SNP,haplotype:multiple (multiple GGCTTCT) (human)	PMID:17622222|REF_RGD_ID:401976552
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:2559	opiate dependence	no_association	ISO	RGD:69478	D	RGD:9068941	20231021	RGD		DNA:SNP: :rs702764 (human)	PMID:28656735|REF_RGD_ID:401850580
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:69478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:5844	myocardial infarction		ISO	RGD:69426	D	RGD:9068941	20200609	RGD			PMID:15076225|REF_RGD_ID:9831425
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:6000	congestive heart failure		ISO	RGD:69426	D	RGD:9068941	20231109	RGD		mRNA, protein:increased expression:left heart ventricle	PMID:26365878|REF_RGD_ID:401900132
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:69426	D	RGD:9068941	20200609	RGD			PMID:15076225|REF_RGD_ID:9831425
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:69478	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16995444
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:9000641	Pain		ISO	RGD:69478	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9463367
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:9001131	stress-related disorder		ISO	RGD:69426	D	RGD:9068941	20240222	RGD		mRNA:increased expression:dorsal striatum (rat)	PMID:28511993|REF_RGD_ID:401976432
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:69426	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;	PMID:16924480|REF_RGD_ID:9834947
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:9002916	Hyperphagia		ISO	RGD:69426	D	RGD:9068941	20200609	RGD			PMID:9808678|REF_RGD_ID:9831410
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:9004354	Alcohol-Related Disorders	treatment	ISO	RGD:69426	D	RGD:9068941	20231026	RGD			PMID:20962231|REF_RGD_ID:401850591
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:69426	D	RGD:9068941	20240404	RGD			PMID:12814374|REF_RGD_ID:405101374
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:69478	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18575850|PMID:20232055
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69426	D	RGD:9068941	20200609	RGD		protein:increased expression:sciatic nerve, peroneal nerve:	PMID:16924480|REF_RGD_ID:9834947
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:9006302	Binge Drinking		ISO	RGD:69426	D	RGD:9068941	20250612	RGD		associated with Marchigian Sardinian alcohol-preferring rats; mRNA: altered expression:amygdala, bed nucleus of stria terminalis	PMID:33671048|REF_RGD_ID:616390065
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:9828	neonatal abstinence syndrome	severity	ISO	RGD:69478	D	RGD:9068941	20240314	RGD		associated with maternal opioid abuse;DNA:SNP:intron (rs702764) (human)	PMID:26233486|REF_RGD_ID:11079504
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:9975	cocaine dependence		ISO	RGD:69478	D	RGD:9068941	20231026	RGD		DNA:SNPs:intron:rs6473797, rs10111937	PMID:34843875|REF_RGD_ID:401851040
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:9976	heroin dependence		ISO	RGD:69426	D	RGD:9068941	20200609	RGD			PMID:24725195|REF_RGD_ID:9831447
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:9976	heroin dependence	treatment	ISO	RGD:69426	D	RGD:9068941	20231026	RGD			PMID:24305833|REF_RGD_ID:401850592
8741988	Oprk1	opioid receptor kappa 1	gene	DOID:9976	heroin dependence	treatment	ISO	RGD:69478	D	RGD:9068941	20231012	RGD		DNA:SNP: :rs3802279, rs3802281, and rs963549 (human)	PMID:31940240|REF_RGD_ID:401827951
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:0061097	immunodeficiency 132B		ISO	RGD:1312182	D	RGD:7240710	20250226	OMIM			
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:0061097	immunodeficiency 132B		ISO	RGD:1312182	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 132B	PMID:28492532
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:0061101	immunodeficiency 132A		ISO	RGD:1312182	D	RGD:7240710	20250226	OMIM			
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:0061101	immunodeficiency 132A		ISO	RGD:1312182	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 | ClinVar Annotator: match by term: IMMUNODEFICIENCY 132A | ClinVar Annotator: match by term: TRAF3 haploinsufficiency | ClinVar Annotator: match by term: TRAF3 related condition | ClinVar Annotator: match by term: TRAF3-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:35960817|PMID:36004314|PMID:9536098
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:0080711	multisystem inflammatory syndrome in children		ISO	RGD:1312182	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children	PMID:28492532
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:1115	sarcoma		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:12849	autistic disorder		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:1826	epilepsy		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:1909	melanoma		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:2030	anxiety disorder		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1312182	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:9003870	Herpes Simplex Encephalitis		ISO	RGD:1312182	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:9005834	Ependymomas		ISO	RGD:1312182	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8741994	Traf3	TNF receptor associated factor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8742041	Nprl2	NPR2 like, GATOR1 complex subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8742041	Nprl2	NPR2 like, GATOR1 complex subunit	gene	DOID:0081420	familial focal epilepsy with variable foci		ISO	RGD:1318978	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Familial focal epilepsy with variable foci	PMID:25741868
8742041	Nprl2	NPR2 like, GATOR1 complex subunit	gene	DOID:0081421	familial focal epilepsy with variable foci 1		ISO	RGD:1318978	D	RGD:9068941	20240203	CTD		CTD Direct Evidence: marker/mechanism	
8742041	Nprl2	NPR2 like, GATOR1 complex subunit	gene	DOID:0081422	familial focal epilepsy with variable foci 2		ISO	RGD:1318978	D	RGD:7240710	20190315	OMIM			
8742041	Nprl2	NPR2 like, GATOR1 complex subunit	gene	DOID:0081422	familial focal epilepsy with variable foci 2		ISO	RGD:1318978	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 | ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 | ClinVar Annotator: match by term: NPRL2-related condition	PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:28492532|PMID:30093711|PMID:31639411|PMID:33461085
8742041	Nprl2	NPR2 like, GATOR1 complex subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8742041	Nprl2	NPR2 like, GATOR1 complex subunit	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1318978	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
8742041	Nprl2	NPR2 like, GATOR1 complex subunit	gene	DOID:1826	epilepsy		ISO	RGD:1318978	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:30093711|PMID:31639411|PMID:33461085
8742041	Nprl2	NPR2 like, GATOR1 complex subunit	gene	DOID:1909	melanoma		ISO	RGD:1318978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8742041	Nprl2	NPR2 like, GATOR1 complex subunit	gene	DOID:2394	ovarian cancer		ISO	RGD:1318978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8742041	Nprl2	NPR2 like, GATOR1 complex subunit	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1318978	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Focal motor seizure	PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:30093711|PMID:31639411|PMID:33461085
8742041	Nprl2	NPR2 like, GATOR1 complex subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1318978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8742041	Nprl2	NPR2 like, GATOR1 complex subunit	gene	DOID:5419	schizophrenia		ISO	RGD:1318978	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
8742041	Nprl2	NPR2 like, GATOR1 complex subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742041	Nprl2	NPR2 like, GATOR1 complex subunit	gene	DOID:630	genetic disease		ISO	RGD:1318978	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:30093711|PMID:31639411|PMID:33461085
8742041	Nprl2	NPR2 like, GATOR1 complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8742077	Gmeb2	glucocorticoid modulatory element binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8742077	Gmeb2	glucocorticoid modulatory element binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:736932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8742077	Gmeb2	glucocorticoid modulatory element binding protein 2	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:736932	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
8742077	Gmeb2	glucocorticoid modulatory element binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:736932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8742077	Gmeb2	glucocorticoid modulatory element binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742122	Rwdd4	RWD domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8742122	Rwdd4	RWD domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1605847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8742122	Rwdd4	RWD domain containing 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8742122	Rwdd4	RWD domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1605847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8742122	Rwdd4	RWD domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1605847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8742122	Rwdd4	RWD domain containing 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8742122	Rwdd4	RWD domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742122	Rwdd4	RWD domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8742147	Dock9	dedicator of cytokinesis 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8742147	Dock9	dedicator of cytokinesis 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8742147	Dock9	dedicator of cytokinesis 9	gene	DOID:10534	stomach cancer		ISO	RGD:1348065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8742147	Dock9	dedicator of cytokinesis 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8742147	Dock9	dedicator of cytokinesis 9	gene	DOID:1115	sarcoma		ISO	RGD:1348065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8742147	Dock9	dedicator of cytokinesis 9	gene	DOID:1324	lung cancer		ISO	RGD:1348065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8742147	Dock9	dedicator of cytokinesis 9	gene	DOID:1909	melanoma		ISO	RGD:1348065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8742147	Dock9	dedicator of cytokinesis 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8742147	Dock9	dedicator of cytokinesis 9	gene	DOID:4362	cervical cancer		ISO	RGD:1348065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8742147	Dock9	dedicator of cytokinesis 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8742147	Dock9	dedicator of cytokinesis 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1348065	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8742147	Dock9	dedicator of cytokinesis 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8742147	Dock9	dedicator of cytokinesis 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742147	Dock9	dedicator of cytokinesis 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8742147	Dock9	dedicator of cytokinesis 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8742147	Dock9	dedicator of cytokinesis 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8742147	Dock9	dedicator of cytokinesis 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8742147	Dock9	dedicator of cytokinesis 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8742225	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8742225	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8742225	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:0081454	Dent disease 2		ISO	RGD:1342739	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dent disease type 2	PMID:28018608
8742225	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:10534	stomach cancer		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8742225	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:1115	sarcoma		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8742225	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:1324	lung cancer		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8742225	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:1909	melanoma		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8742225	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:4362	cervical cancer		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8742225	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:5041	esophageal cancer		ISO	RGD:1342739	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8742225	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742225	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8742225	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8742225	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8742225	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8742257	Bcap31	B cell receptor associated protein 31	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8742257	Bcap31	B cell receptor associated protein 31	gene	DOID:0112123	deafness, dystonia, and cerebral hypomyelination		ISO	RGD:1349319	D	RGD:7240710	20180130	OMIM			
8742257	Bcap31	B cell receptor associated protein 31	gene	DOID:0112123	deafness, dystonia, and cerebral hypomyelination		ISO	RGD:1349319	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BCAP31-related condition | ClinVar Annotator: match by term: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION | ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	PMID:25741868|PMID:28492532
8742257	Bcap31	B cell receptor associated protein 31	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
8742257	Bcap31	B cell receptor associated protein 31	gene	DOID:10534	stomach cancer		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8742257	Bcap31	B cell receptor associated protein 31	gene	DOID:10907	microcephaly		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:10329713|PMID:17056546|PMID:18287538|PMID:24597975|PMID:25741868|PMID:28492532
8742257	Bcap31	B cell receptor associated protein 31	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8742257	Bcap31	B cell receptor associated protein 31	gene	DOID:1891	optic nerve disease		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	
8742257	Bcap31	B cell receptor associated protein 31	gene	DOID:480	movement disease		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
8742257	Bcap31	B cell receptor associated protein 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742257	Bcap31	B cell receptor associated protein 31	gene	DOID:630	genetic disease		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8742257	Bcap31	B cell receptor associated protein 31	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8742257	Bcap31	B cell receptor associated protein 31	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
8742257	Bcap31	B cell receptor associated protein 31	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
8742257	Bcap31	B cell receptor associated protein 31	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8742257	Bcap31	B cell receptor associated protein 31	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349319	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8742272	Vcp	valosin containing protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8742272	Vcp	valosin containing protein	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:731621	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25811541
8742272	Vcp	valosin containing protein	gene	DOID:0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia		ISO	RGD:731621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia	PMID:15034582|PMID:16247064|PMID:16321991|PMID:16790606|PMID:16984901|PMID:17329348|PMID:17576681|PMID:17763460|PMID:17889967|PMID:17935506|PMID:18341608|PMID:18845250|PMID:19237541|PMID:19364651|PMID:19704082|PMID:20008565|PMID:20104022|PMID:20512113|PMID:20604808|PMID:20957154|PMID:21145000|PMID:21387114|PMID:21816654|PMID:21822278|PMID:21920633|PMID:22270372|PMID:22686199|PMID:22898872|PMID:22909335|PMID:23029473|PMID:23152587|PMID:23169451|PMID:23333620|PMID:23498975|PMID:24196964|PMID:24829604|PMID:24838343|PMID:25125609|PMID:25326637|PMID:25388089|PMID:25457024|PMID:25492614|PMID:25617006|PMID:25741868|PMID:25775548|PMID:26105173|PMID:26467025|PMID:26555887|PMID:27226613|PMID:27538664|PMID:27790088|PMID:28430856|PMID:28492532|PMID:28542158|PMID:28692196|PMID:28738334|PMID:28889094|PMID:30005904|PMID:30279455|PMID:30293881|PMID:30955949|PMID:31687228|PMID:31866807|PMID:31996268|PMID:32028661|PMID:33144514|PMID:33415820|PMID:35741838|PMID:35896379|PMID:35896380|PMID:37303947|PMID:9536098
8742272	Vcp	valosin containing protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8742272	Vcp	valosin containing protein	gene	DOID:0060205	frontotemporal dementia and/or amyotrophic lateral sclerosis 6		ISO	RGD:731621	D	RGD:7240710	20180130	OMIM			
8742272	Vcp	valosin containing protein	gene	DOID:0060205	frontotemporal dementia and/or amyotrophic lateral sclerosis 6		ISO	RGD:731621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	PMID:15034582|PMID:16199547|PMID:16247064|PMID:16321991|PMID:16790606|PMID:16984901|PMID:17329348|PMID:17576681|PMID:17622780|PMID:17763460|PMID:17889967|PMID:17935506|PMID:18341608|PMID:18845250|PMID:19208399|PMID:19237541|PMID:19364651|PMID:19704082|PMID:20008565|PMID:20104022|PMID:20512113|PMID:20604808|PMID:20957154|PMID:21145000|PMID:21387114|PMID:21816654|PMID:21822278|PMID:21880997|PMID:21920633|PMID:21984748|PMID:22270372|PMID:22686199|PMID:22898872|PMID:22900631|PMID:22909335|PMID:23029473|PMID:23152587|PMID:23169451|PMID:23333620|PMID:23498975|PMID:23868359|PMID:24196964|PMID:24829604|PMID:24838343|PMID:25125609|PMID:25326637|PMID:25388089|PMID:25457024|PMID:25492614|PMID:25617006|PMID:25741868|PMID:25775548|PMID:26105173|PMID:26467025|PMID:26511028|PMID:26555887|PMID:26853221|PMID:27209344|PMID:27226613|PMID:27538664|PMID:27768726|PMID:27790088|PMID:28430856|PMID:28492532|PMID:28542158|PMID:28692196|PMID:28709720|PMID:28738334|PMID:28889094|PMID:29033165|PMID:29332010|PMID:29754758|PMID:29899994|PMID:30005904|PMID:30103325|PMID:30103957|PMID:30279455|PMID:30293881|PMID:30488450|PMID:30955949|PMID:31687228|PMID:31866807|PMID:31914217|PMID:31996268|PMID:32028661|PMID:32036797|PMID:32055599|PMID:32579787|PMID:32671691|PMID:33144514|PMID:33415820|PMID:35741724|PMID:35741838|PMID:35896379|PMID:35896380|PMID:36980948|PMID:37002192|PMID:37303947|PMID:37883978|PMID:9536098
8742272	Vcp	valosin containing protein	gene	DOID:0110168	Charcot-Marie-Tooth disease type 2Y		ISO	RGD:731621	D	RGD:7240710	20180130	OMIM			
8742272	Vcp	valosin containing protein	gene	DOID:0110168	Charcot-Marie-Tooth disease type 2Y		ISO	RGD:731621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2Y | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2y	PMID:19364651|PMID:21684747|PMID:23000505|PMID:23333620|PMID:25125609|PMID:25741868|PMID:25878907|PMID:27226613|PMID:27768726|PMID:28256728|PMID:28492532|PMID:28542158|PMID:29127544|PMID:37002192
8742272	Vcp	valosin containing protein	gene	DOID:0111385	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1		ISO	RGD:731621	D	RGD:7240710	20190320	OMIM			
8742272	Vcp	valosin containing protein	gene	DOID:0111385	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1		ISO	RGD:731621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 1	PMID:15034582|PMID:18845250|PMID:20604808|PMID:21387114|PMID:21920633|PMID:22270372|PMID:22909335|PMID:23333620|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27790088|PMID:28430856|PMID:28492532|PMID:28542158|PMID:28889094|PMID:30279455|PMID:31996268|PMID:33144514
8742272	Vcp	valosin containing protein	gene	DOID:10534	stomach cancer		ISO	RGD:731621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8742272	Vcp	valosin containing protein	gene	DOID:1059	intellectual disability		ISO	RGD:731621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:21387114|PMID:21920633|PMID:25617006|PMID:25741868|PMID:26467025|PMID:28430856|PMID:28492532|PMID:28542158|PMID:28889094|PMID:30279455|PMID:31996268
8742272	Vcp	valosin containing protein	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731621	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Alzheimer disease	PMID:30279455
8742272	Vcp	valosin containing protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8742272	Vcp	valosin containing protein	gene	DOID:1115	sarcoma		ISO	RGD:731621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8742272	Vcp	valosin containing protein	gene	DOID:12217	Lewy body dementia		ISO	RGD:731621	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Lewy body dementia	PMID:28492532|PMID:35741838|PMID:35896379
8742272	Vcp	valosin containing protein	gene	DOID:1307	dementia		ISO	RGD:731621	D	RGD:9068941	20200609	RGD		IBMPFD, OMIM:167320	PMID:15034582|REF_RGD_ID:1599735
8742272	Vcp	valosin containing protein	gene	DOID:1324	lung cancer		ISO	RGD:731621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8742272	Vcp	valosin containing protein	gene	DOID:2394	ovarian cancer		ISO	RGD:731621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8742272	Vcp	valosin containing protein	gene	DOID:2468	psychotic disorder		ISO	RGD:731621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: psychotic symptoms	PMID:28492532|PMID:35741838|PMID:35896379
8742272	Vcp	valosin containing protein	gene	DOID:3275	thymoma		ISO	RGD:731621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8742272	Vcp	valosin containing protein	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:731621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:15034582|PMID:18845250|PMID:20604808|PMID:22270372|PMID:22909335|PMID:23333620|PMID:25617006|PMID:25741868|PMID:28492532|PMID:33144514
8742272	Vcp	valosin containing protein	gene	DOID:3429	inclusion body myositis		ISO	RGD:731621	D	RGD:9068941	20200609	RGD		IBMPFD, OMIM:167320	PMID:15034582|REF_RGD_ID:1599735
8742272	Vcp	valosin containing protein	gene	DOID:423	myopathy		ISO	RGD:731621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	
8742272	Vcp	valosin containing protein	gene	DOID:4362	cervical cancer		ISO	RGD:731621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8742272	Vcp	valosin containing protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8742272	Vcp	valosin containing protein	gene	DOID:5408	Paget disease of bone		ISO	RGD:731621	D	RGD:9068941	20200609	RGD		IBMPFD, OMIM:167320	PMID:15034582|REF_RGD_ID:1599735
8742272	Vcp	valosin containing protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8742272	Vcp	valosin containing protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742272	Vcp	valosin containing protein	gene	DOID:607	paraplegia		ISO	RGD:731621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:15034582|PMID:18845250|PMID:20604808|PMID:22270372|PMID:22909335|PMID:23333620|PMID:25617006|PMID:25741868|PMID:28492532|PMID:33144514
8742272	Vcp	valosin containing protein	gene	DOID:630	genetic disease		ISO	RGD:731621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15034582|PMID:16321991|PMID:16984901|PMID:17329348|PMID:17935506|PMID:18341608|PMID:18845250|PMID:19237541|PMID:20008565|PMID:20104022|PMID:20512113|PMID:20604808|PMID:20957154|PMID:21145000|PMID:21387114|PMID:21822278|PMID:21920633|PMID:22270372|PMID:22686199|PMID:22898872|PMID:22909335|PMID:23029473|PMID:23169451|PMID:23333620|PMID:23498975|PMID:24196964|PMID:24838343|PMID:25125609|PMID:25388089|PMID:25617006|PMID:25741868|PMID:25775548|PMID:26467025|PMID:28430856|PMID:28492532|PMID:28542158|PMID:28889094|PMID:30279455|PMID:30293881|PMID:31687228|PMID:31996268|PMID:33144514|PMID:35896379
8742272	Vcp	valosin containing protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8742272	Vcp	valosin containing protein	gene	DOID:9000918	Disease Progression		ISO	RGD:731621	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29693262
8742272	Vcp	valosin containing protein	gene	DOID:9001581	Constipation		ISO	RGD:731621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:28492532|PMID:35741838|PMID:35896379
8742272	Vcp	valosin containing protein	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:731621	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29693262
8742272	Vcp	valosin containing protein	gene	DOID:9005532	Muscle Weakness		ISO	RGD:731621	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Progressive muscle weakness	PMID:25741868
8742272	Vcp	valosin containing protein	gene	DOID:9005950	Orthostatic Hypotension		ISO	RGD:731621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orthostatic hypotension	PMID:28492532|PMID:35741838|PMID:35896379
8742272	Vcp	valosin containing protein	gene	DOID:9006205	Animal Disease Models		ISO	RGD:731621	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25884947
8742272	Vcp	valosin containing protein	gene	DOID:9006262	Cytomegalovirus Infections		ISO	RGD:731621	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28494016
8742272	Vcp	valosin containing protein	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:731621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:28492532|PMID:35741838|PMID:35896379
8742272	Vcp	valosin containing protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8742272	Vcp	valosin containing protein	gene	DOID:9008023	Memory Disorders		ISO	RGD:731621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:15034582|PMID:16321991|PMID:16984901|PMID:17329348|PMID:18341608|PMID:19237541|PMID:20008565|PMID:20104022|PMID:20512113|PMID:20604808|PMID:20957154|PMID:21145000|PMID:21822278|PMID:22270372|PMID:22686199|PMID:22898872|PMID:23029473|PMID:23169451|PMID:23498975|PMID:24196964|PMID:25125609|PMID:25388089|PMID:25741868|PMID:25775548|PMID:26467025|PMID:28492532|PMID:30293881|PMID:31687228|PMID:35896379
8742272	Vcp	valosin containing protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731621	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8742272	Vcp	valosin containing protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:32028661|PMID:9536098
8742272	Vcp	valosin containing protein	gene	DOID:9091	REM sleep behavior disorder		ISO	RGD:731621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: REM sleep behavior disorder	PMID:28492532|PMID:35741838|PMID:35896379
8742272	Vcp	valosin containing protein	gene	DOID:9255	frontotemporal dementia		ISO	RGD:731621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	PMID:15034582|PMID:18845250|PMID:20604808|PMID:22270372|PMID:22909335|PMID:23333620|PMID:25617006|PMID:25741868|PMID:28492532|PMID:33144514
8742292	Vash2	vasohibin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8742292	Vash2	vasohibin 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1602689	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8742292	Vash2	vasohibin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602689	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8742292	Vash2	vasohibin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742292	Vash2	vasohibin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8742292	Vash2	vasohibin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:0050997	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome		ISO	RGD:733926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dysequilibrium syndrome	PMID:18043714|PMID:18326629|PMID:22532556|PMID:25741868|PMID:28492532
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:733926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:0070556	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1		ISO	RGD:733926	D	RGD:7240710	20190327	OMIM			
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:0070556	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1		ISO	RGD:733926	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1 | ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 | ClinVar Annotator: match by term: VLDLR-related condition	PMID:16199547|PMID:18043714|PMID:18326629|PMID:18364738|PMID:20301729|PMID:22532556|PMID:25741868|PMID:27000652|PMID:28492532
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:733926	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29289645
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:0110014	age related macular degeneration 1		ISO	RGD:733927	D	RGD:9068941	20220825	MouseDO		OMIM:603075	
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:10534	stomach cancer		ISO	RGD:733926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:1059	intellectual disability		ISO	RGD:733926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733926	D	RGD:9068941	20200609	RGD		DNA:repeat	PMID:7550352|REF_RGD_ID:737739
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:1068	juvenile glaucoma		ISO	RGD:733926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma of childhood	PMID:25741868
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:10907	microcephaly		ISO	RGD:733926	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:733926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733926	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:1115	sarcoma		ISO	RGD:733926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:733927	D	RGD:9068941	20200609	RGD			PMID:10985956|REF_RGD_ID:1625570
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:1184	nephrotic syndrome		ISO	RGD:3963	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart, skeletal muscle (rat)	PMID:9186864|REF_RGD_ID:2324668
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:11981	morbid obesity	treatment	ISO	RGD:733926	D	RGD:9068941	20250717	RGD		associated with type 2 diabetes mellitus and dyslipidemia	PMID:27051590|REF_RGD_ID:617212663
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:12849	autistic disorder		ISO	RGD:733926	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15820235
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:12849	autistic disorder		ISO	RGD:733926	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebellum, Brodmann area 9 (human)	PMID:15820235|REF_RGD_ID:2317973
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:1307	dementia		ISO	RGD:733926	D	RGD:9068941	20200609	RGD		DNA:repeat	PMID:11342683|REF_RGD_ID:737740
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:3963	D	RGD:9068941	20200609	RGD		protein:decreased expression:adipose tissue, skeletal muscle (rat)	PMID:11786096|REF_RGD_ID:2324671
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:13938	amenorrhea		ISO	RGD:733926	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:1826	epilepsy		ISO	RGD:733926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:2349	arteriosclerosis		ISO	RGD:733927	D	RGD:9068941	20200609	RGD			PMID:10985956|REF_RGD_ID:1625570
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:3275	thymoma		ISO	RGD:733926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:733926	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:540	strabismus		ISO	RGD:733926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733926	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:630	genetic disease		ISO	RGD:733926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:83	cataract		ISO	RGD:733926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:733927	D	RGD:9068941	20200609	RGD			PMID:8636110|REF_RGD_ID:1625573
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:9003936	Cardiomegaly		ISO	RGD:3963	D	RGD:9068941	20200609	RGD		associated with Hypertension; mRNA:decreased expression:heart ventricle	PMID:8603509|REF_RGD_ID:1625579
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:9004866	Ataxia		ISO	RGD:733926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733926	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3963	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart, skeletal muscle	PMID:15878964|REF_RGD_ID:1625575
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:733926	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:3963	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic;mRNA, protein:decreased expression:adipose tissue, skeletal muscle	PMID:9507207|REF_RGD_ID:1625577
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:9007722	Myoclonus		ISO	RGD:733926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733926	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:9970	obesity		ISO	RGD:733926	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20975297
8742304	Vldlr	very low density lipoprotein receptor	gene	DOID:9970	obesity	susceptibility	ISO	RGD:733927	D	RGD:9068941	20200609	RGD			PMID:11557677|REF_RGD_ID:1625568
8742333	C1qtnf7	C1q and TNF related 7	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8742333	C1qtnf7	C1q and TNF related 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742333	C1qtnf7	C1q and TNF related 7	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1315898	D	RGD:9068941	20260514	RGD		protein:increased expression:blood plasma	PMID:40504501|REF_RGD_ID:713349441
8742333	C1qtnf7	C1q and TNF related 7	gene	DOID:9002669	Hypoxia		ISO	RGD:1315899	D	RGD:9068941	20260514	RGD		protein:increased expression:lung, blood plasma	PMID:40504501|REF_RGD_ID:713349441
8742346	Ifnar2	interferon alpha and beta receptor subunit 2	gene	DOID:0080600	COVID-19		ISO	RGD:1346107	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:33307546
8742346	Ifnar2	interferon alpha and beta receptor subunit 2	gene	DOID:0111994	immunodeficiency 45	susceptibility	ISO	RGD:1346107	D	RGD:7240710	20260715	OMIM			
8742346	Ifnar2	interferon alpha and beta receptor subunit 2	gene	DOID:2043	hepatitis B		ISO	RGD:1346107	D	RGD:9068941	20260716	CTD		CTD Direct Evidence: marker/mechanism	
8742346	Ifnar2	interferon alpha and beta receptor subunit 2	gene	DOID:2043	hepatitis B	susceptibility	ISO	RGD:1346107	D	RGD:7240710	20260715	OMIM			
8742361	Rgs2	regulator of G protein signaling 2	gene	DOID:0050851	glomerulosclerosis	susceptibility	ISO	RGD:621665	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:26606876|REF_RGD_ID:13524570
8742361	Rgs2	regulator of G protein signaling 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8742361	Rgs2	regulator of G protein signaling 2	gene	DOID:10534	stomach cancer		ISO	RGD:732360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8742361	Rgs2	regulator of G protein signaling 2	gene	DOID:10763	hypertension		ISO	RGD:621665	D	RGD:9068941	20200609	RGD			PMID:17986358|REF_RGD_ID:2289116
8742361	Rgs2	regulator of G protein signaling 2	gene	DOID:10763	hypertension		ISO	RGD:732360	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:1798635
8742361	Rgs2	regulator of G protein signaling 2	gene	DOID:10763	hypertension		ISO	RGD:732361	D	RGD:9068941	20200609	RGD			PMID:14608379|REF_RGD_ID:13524579
8742361	Rgs2	regulator of G protein signaling 2	gene	DOID:1115	sarcoma		ISO	RGD:732360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8742361	Rgs2	regulator of G protein signaling 2	gene	DOID:11206	opioid abuse		ISO	RGD:621665	D	RGD:9068941	20200609	RGD			PMID:19664213|REF_RGD_ID:13524573
8742361	Rgs2	regulator of G protein signaling 2	gene	DOID:1324	lung cancer		ISO	RGD:732360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8742361	Rgs2	regulator of G protein signaling 2	gene	DOID:13548	secondary Parkinson disease		ISO	RGD:732360	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18347610
8742361	Rgs2	regulator of G protein signaling 2	gene	DOID:3070	high grade glioma		ISO	RGD:732360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8742361	Rgs2	regulator of G protein signaling 2	gene	DOID:365	bladder disease	treatment	ISO	RGD:621665	D	RGD:9068941	20200609	RGD		associated with hypertension	PMID:19689474|REF_RGD_ID:9684972
8742361	Rgs2	regulator of G protein signaling 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:621665	D	RGD:9068941	20200609	RGD			PMID:19003918|REF_RGD_ID:10449440
8742361	Rgs2	regulator of G protein signaling 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742361	Rgs2	regulator of G protein signaling 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8742361	Rgs2	regulator of G protein signaling 2	gene	DOID:724	female stress incontinence		ISO	RGD:621665	D	RGD:9068941	20200609	RGD			PMID:18372098|REF_RGD_ID:13524574
8742361	Rgs2	regulator of G protein signaling 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:732360	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
8742361	Rgs2	regulator of G protein signaling 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:732360	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8742361	Rgs2	regulator of G protein signaling 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732360	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037
8742361	Rgs2	regulator of G protein signaling 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8742361	Rgs2	regulator of G protein signaling 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732360	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1316787	D	RGD:9068941	20220825	MouseDO			
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:0050855	renal fibrosis		ISO	RGD:1316787	D	RGD:9068941	20200609	RGD			PMID:18037995|REF_RGD_ID:7243102
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1316786	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:0060327	omphalocele		ISO	RGD:1316787	D	RGD:9068941	20220825	MouseDO		OMIM:164750	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:0080169	tricuspid atresia		ISO	RGD:1316786	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Tricuspid atresia	PMID:25741868
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:0080751	keratosis pilaris atrophicans		ISO	RGD:1316786	D	RGD:7240710	20190315	OMIM			
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:0080751	keratosis pilaris atrophicans		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Keratosis pilaris atrophicans | ClinVar Annotator: match by term: LRP1-related condition	PMID:25741868|PMID:28492532|PMID:36307211
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:10283	prostate cancer		ISO	RGD:1316786	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1316786	D	RGD:9068941	20200609	RGD		DNA:SNP:exon 3:C>T (human)	PMID:9635959|REF_RGD_ID:1358747
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1316787	D	RGD:9068941	20200609	RGD			PMID:19150622|REF_RGD_ID:13800553
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1316787	D	RGD:9068941	20220825	MouseDO		OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:1307535	D	RGD:9068941	20200609	RGD			PMID:29115637|REF_RGD_ID:13799352
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:11044	gastroschisis		ISO	RGD:1316787	D	RGD:9068941	20220825	MouseDO		OMIM:230750	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:1307535	D	RGD:9068941	20200609	RGD			PMID:26656067|REF_RGD_ID:13792690
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:1316786	D	RGD:9068941	20200609	RGD			PMID:18060043|REF_RGD_ID:13800561
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:12351	alcoholic hepatitis		ISO	RGD:1307535	D	RGD:9068941	20250308	RGD		protein:decreased expression:liver	PMID:36187787|REF_RGD_ID:597830170
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:12783	migraine without aura		ISO	RGD:1316786	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22683712
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:1307535	D	RGD:9068941	20250308	RGD		protein:decreased expression:liver	PMID:36187787|REF_RGD_ID:597830170
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:1316787	D	RGD:9068941	20200609	RGD			PMID:14739216|REF_RGD_ID:1581910
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:2349	arteriosclerosis	susceptibility	ISO	RGD:1316787	D	RGD:9068941	20200609	RGD		associated with Hypercholesterolemia	PMID:17303763|REF_RGD_ID:1625012
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1316787	D	RGD:9068941	20220825	MouseDO		OMIM:142340 | OMIM:222400 | OMIM:610187	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:440	neuromuscular disease		ISO	RGD:1316786	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316786	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:5419	schizophrenia		ISO	RGD:1316786	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743468
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1316786	D	RGD:9068941	20200609	RGD			PMID:12402342|REF_RGD_ID:1581913
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:6364	migraine		ISO	RGD:1316786	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21666692
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:1307535	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:14623925|REF_RGD_ID:1625030
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:1307535	D	RGD:9068941	20200609	RGD			PMID:23867460|REF_RGD_ID:13800520
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:1316786	D	RGD:9068941	20200609	RGD			PMID:15121769|REF_RGD_ID:1581911
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1316787	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebellum, spinal cord	PMID:19299462|REF_RGD_ID:13800552
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1316787	D	RGD:9068941	20200609	RGD		associated with Carbon Tetrachloride Poisoning	PMID:26237273|REF_RGD_ID:13800515
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:9007748	Retinal Neovascularization		ISO	RGD:1307535	D	RGD:9068941	20200609	RGD		protein:increased expression:retina, muller cell	PMID:16979164|REF_RGD_ID:1625022
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316786	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1316786	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:9008735	Developmental Dysplasia of the Hip 3		ISO	RGD:1316786	D	RGD:7240710	20240131	OMIM			
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:9008735	Developmental Dysplasia of the Hip 3		ISO	RGD:1316786	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DYSPLASIA OF THE HIP 3 | ClinVar Annotator: match by term: Developmental dysplasia of the hip 3	PMID:25741868
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8742383	Lrp1	LDL receptor related protein 1	gene	DOID:9351	diabetes mellitus	treatment	ISO	RGD:1307535	D	RGD:9068941	20200609	RGD			PMID:22889684|REF_RGD_ID:13800521
8742476	Tspan13	tetraspanin 13	gene	DOID:1324	lung cancer		ISO	RGD:1323423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8742476	Tspan13	tetraspanin 13	gene	DOID:4362	cervical cancer		ISO	RGD:1323423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8742476	Tspan13	tetraspanin 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742490	Dprx	divergent-paired related homeobox	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8742490	Dprx	divergent-paired related homeobox	gene	DOID:1324	lung cancer		ISO	RGD:1604883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8742490	Dprx	divergent-paired related homeobox	gene	DOID:9007661	Dwarfism		ISO	RGD:1604883	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
8742497	Arr3	arrestin 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8742497	Arr3	arrestin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8742497	Arr3	arrestin 3	gene	DOID:4362	cervical cancer		ISO	RGD:1350252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8742497	Arr3	arrestin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1350252	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8742497	Arr3	arrestin 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8742497	Arr3	arrestin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742497	Arr3	arrestin 3	gene	DOID:630	genetic disease		ISO	RGD:1350252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8742497	Arr3	arrestin 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8742497	Arr3	arrestin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8742497	Arr3	arrestin 3	gene	DOID:9009093	Myopia 26, X-Linked, Female-Limited		ISO	RGD:1350252	D	RGD:7240710	20190315	OMIM			
8742497	Arr3	arrestin 3	gene	DOID:9009093	Myopia 26, X-Linked, Female-Limited		ISO	RGD:1350252	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARR3-related condition | ClinVar Annotator: match by term: MYOPIA 26, X-LINKED, FEMALE-LIMITED | ClinVar Annotator: match by term: Myopia 26, X-linked, female-limited	PMID:25741868|PMID:28492532|PMID:35001458
8742531	Mars2	methionyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050942	spastic ataxia 3		ISO	RGD:1349073	D	RGD:7240710	20180130	OMIM			
8742531	Mars2	methionyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050942	spastic ataxia 3		ISO	RGD:1349073	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ataxia, spastic, 3, autosomal recessive | ClinVar Annotator: match by term: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic ataxia 3	PMID:25741868|PMID:28492532
8742531	Mars2	methionyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111468	combined oxidative phosphorylation deficiency 25		ISO	RGD:1349073	D	RGD:7240710	20180130	OMIM			
8742531	Mars2	methionyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111468	combined oxidative phosphorylation deficiency 25		ISO	RGD:1349073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 25 | ClinVar Annotator: match by term: MARS2-related condition	PMID:25741868|PMID:28492532
8742531	Mars2	methionyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
8742537	Il17c	interleukin 17C	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:1617344	D	RGD:9068941	20260214	RGD		mRNA:increased expression:lung	PMID:17198762|REF_RGD_ID:632518409
8742537	Il17c	interleukin 17C	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:1582798	D	RGD:9068941	20260212	RGD			PMID:32916233|REF_RGD_ID:631734363
8742543	Slitrk3	SLIT and NTRK like family member 3	gene	DOID:1059	intellectual disability		ISO	RGD:1321448	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8742543	Slitrk3	SLIT and NTRK like family member 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8742543	Slitrk3	SLIT and NTRK like family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8742549	Wdr48	WD repeat domain 48	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1347511	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	
8742549	Wdr48	WD repeat domain 48	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8742549	Wdr48	WD repeat domain 48	gene	DOID:10534	stomach cancer		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8742549	Wdr48	WD repeat domain 48	gene	DOID:1115	sarcoma		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8742549	Wdr48	WD repeat domain 48	gene	DOID:1561	cognitive disorder		ISO	RGD:1347511	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: therapeutic	PMID:36047109
8742549	Wdr48	WD repeat domain 48	gene	DOID:1909	melanoma		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8742549	Wdr48	WD repeat domain 48	gene	DOID:2394	ovarian cancer		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8742549	Wdr48	WD repeat domain 48	gene	DOID:3275	thymoma		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8742549	Wdr48	WD repeat domain 48	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8742549	Wdr48	WD repeat domain 48	gene	DOID:4362	cervical cancer		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8742549	Wdr48	WD repeat domain 48	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8742549	Wdr48	WD repeat domain 48	gene	DOID:5041	esophageal cancer		ISO	RGD:1347511	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8742549	Wdr48	WD repeat domain 48	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742549	Wdr48	WD repeat domain 48	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8742549	Wdr48	WD repeat domain 48	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8742549	Wdr48	WD repeat domain 48	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8742575	Pnma2	PNMA family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742575	Pnma2	PNMA family member 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8742580	Cryba2	crystallin beta A2	gene	DOID:0110237	cataract 42		ISO	RGD:1343426	D	RGD:7240710	20180130	OMIM			
8742580	Cryba2	crystallin beta A2	gene	DOID:0110237	cataract 42		ISO	RGD:1343426	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: CRYBA2-related condition | ClinVar Annotator: match by term: Cataract 42	PMID:25741868
8742580	Cryba2	crystallin beta A2	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1343426	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
8742580	Cryba2	crystallin beta A2	gene	DOID:83	cataract		ISO	RGD:1343426	D	RGD:8554872	20250527	ClinVar		ClinVar Annotator: match by term: early-onset anterior polar cataract	PMID:25741868
8742618	Pogk	pogo transposable element derived with KRAB domain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8742618	Pogk	pogo transposable element derived with KRAB domain	gene	DOID:1324	lung cancer		ISO	RGD:1319023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8742618	Pogk	pogo transposable element derived with KRAB domain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742636	Setd3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8742636	Setd3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8742636	Setd3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8742636	Setd3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8742636	Setd3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8742636	Setd3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8742636	Setd3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8742636	Setd3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8742636	Setd3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742636	Setd3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8742682	Yeats2	YEATS domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8742682	Yeats2	YEATS domain containing 2	gene	DOID:0111689	familial adult myoclonic epilepsy		ISO	RGD:1347752	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: benign adult familial myoclonic epilepsy	PMID:25741868
8742682	Yeats2	YEATS domain containing 2	gene	DOID:0111693	familial adult myoclonic epilepsy 4		ISO	RGD:1347752	D	RGD:7240710	20191225	OMIM			
8742682	Yeats2	YEATS domain containing 2	gene	DOID:0111693	familial adult myoclonic epilepsy 4		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 4 | ClinVar Annotator: match by term: YEATS2-related condition	PMID:25741868
8742682	Yeats2	YEATS domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8742682	Yeats2	YEATS domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8742682	Yeats2	YEATS domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8742682	Yeats2	YEATS domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8742682	Yeats2	YEATS domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8742682	Yeats2	YEATS domain containing 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8742682	Yeats2	YEATS domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8742682	Yeats2	YEATS domain containing 2	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1347752	D	RGD:9068941	20240208	CTD		CTD Direct Evidence: marker/mechanism	PMID:34686948
8742682	Yeats2	YEATS domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8742682	Yeats2	YEATS domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347752	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8742682	Yeats2	YEATS domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742682	Yeats2	YEATS domain containing 2	gene	DOID:9000918	Disease Progression		ISO	RGD:1347752	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34686948
8742682	Yeats2	YEATS domain containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8742682	Yeats2	YEATS domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8742682	Yeats2	YEATS domain containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:733068	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:12642359|PMID:14567970|PMID:16199547|PMID:16352453|PMID:18505755|PMID:20087448|PMID:20474083|PMID:23299917|PMID:23396983|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28790153|PMID:30847666|PMID:31737537|PMID:31983221|PMID:33035702|PMID:34426522|PMID:34558151|PMID:35352813|PMID:37089884|PMID:37431535|PMID:38891079
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:0060224	atrial fibrillation		ISO	RGD:733068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	PMID:12642359|PMID:16352453|PMID:18505755|PMID:19035361|PMID:22429680|PMID:24033266|PMID:25351510|PMID:25741868|PMID:27353086|PMID:27532257|PMID:28492532|PMID:30012424|PMID:30048712|PMID:31513939|PMID:33035702|PMID:33662488|PMID:34310159|PMID:35241752|PMID:37818629|PMID:37929589|PMID:38891079|PMID:39260623
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:733068	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:12642359|PMID:14567970|PMID:16199547|PMID:16352453|PMID:20087448|PMID:23396983|PMID:24033266|PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:31737537|PMID:33035702|PMID:33495596|PMID:34495297|PMID:34558151
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:733068	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532|PMID:31737537
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:733068	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1	PMID:16352453|PMID:18505755|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:733068	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:16352453|PMID:17097056|PMID:18505755|PMID:23299917|PMID:23396983|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:28790153|PMID:30012424|PMID:31737537|PMID:32697969|PMID:33035702|PMID:33495596|PMID:33495597|PMID:34426522|PMID:34495297
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:733068	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:16352453|PMID:17097056|PMID:18505755|PMID:23299917|PMID:23396983|PMID:24033266|PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28790153|PMID:30012424|PMID:31737537|PMID:32697969|PMID:33035702|PMID:33495596|PMID:33495597|PMID:34426522|PMID:34495297
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:733068	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:16352453|PMID:17097056|PMID:18505755|PMID:23299917|PMID:23396983|PMID:24033266|PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28790153|PMID:31737537|PMID:33035702|PMID:33495596|PMID:34426522|PMID:34495297|PMID:35352813|PMID:37929589|PMID:38891079
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:733068	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:16352453|PMID:17097056|PMID:18505755|PMID:23299917|PMID:23396983|PMID:24033266|PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28790153|PMID:31737537|PMID:31983221|PMID:33035702|PMID:33495596|PMID:34426522|PMID:34495297|PMID:35352813|PMID:37929589|PMID:38891079
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:733068	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1	PMID:12642359|PMID:16352453|PMID:18505755|PMID:19035361|PMID:22429680|PMID:24033266|PMID:25351510|PMID:25741868|PMID:27353086|PMID:27532257|PMID:28492532|PMID:28790153|PMID:30012424|PMID:30048712|PMID:31513939|PMID:33035702|PMID:33662488|PMID:34310159|PMID:35241752|PMID:37818629|PMID:37929589|PMID:38891079|PMID:39260623
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:0110318	hypertrophic cardiomyopathy 12		ISO	RGD:733068	D	RGD:7240710	20180130	OMIM			
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:0110318	hypertrophic cardiomyopathy 12		ISO	RGD:733068	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12	PMID:12642359|PMID:14567970|PMID:16199547|PMID:16352453|PMID:17576681|PMID:18250163|PMID:18505755|PMID:19035361|PMID:20087448|PMID:20474083|PMID:21425739|PMID:22337857|PMID:22429680|PMID:23299917|PMID:23396983|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25611685|PMID:25741868|PMID:27353086|PMID:27532257|PMID:27650965|PMID:28492532|PMID:28790153|PMID:29544605|PMID:30012424|PMID:30021846|PMID:30048712|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32344918|PMID:32746448|PMID:32880476|PMID:33035702|PMID:33662488|PMID:34310159|PMID:34426522|PMID:34495297|PMID:34558151|PMID:35241752|PMID:35352813|PMID:35626289|PMID:37089884|PMID:37818629|PMID:37929589|PMID:38837338|PMID:38891079|PMID:39260623|PMID:8994428|PMID:9536098
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:0110449	dilated cardiomyopathy 1M		ISO	RGD:733068	D	RGD:7240710	20180130	OMIM			
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:0110449	dilated cardiomyopathy 1M		ISO	RGD:733068	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CSRP3-related disorder | ClinVar Annotator: match by term: Dilated cardiomyopathy 1M	PMID:12642359|PMID:14567970|PMID:16199547|PMID:16352453|PMID:17576681|PMID:18250163|PMID:18505755|PMID:19035361|PMID:20087448|PMID:20474083|PMID:21425739|PMID:22337857|PMID:22429680|PMID:23299917|PMID:23396983|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25611685|PMID:25741868|PMID:27353086|PMID:27532257|PMID:27650965|PMID:28492532|PMID:28750076|PMID:28790153|PMID:29247119|PMID:29544605|PMID:30012424|PMID:30021846|PMID:30048712|PMID:30847666|PMID:31006259|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32344918|PMID:32492895|PMID:32746448|PMID:32880476|PMID:33035702|PMID:33662488|PMID:33954932|PMID:34310159|PMID:34426522|PMID:34495297|PMID:34558151|PMID:35241752|PMID:35352813|PMID:35626289|PMID:37089884|PMID:37198425|PMID:37818629|PMID:37929589|PMID:38837338|PMID:38891079|PMID:39260623|PMID:8994428|PMID:9536098
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:733068	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:12642359|PMID:14567970|PMID:16352453|PMID:18250163|PMID:18505755|PMID:19035361|PMID:20087448|PMID:20474083|PMID:22337857|PMID:22429680|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:25351510|PMID:25741868|PMID:27353086|PMID:27532257|PMID:28492532|PMID:28790153|PMID:30012424|PMID:30048712|PMID:31513939|PMID:33035702|PMID:33662488|PMID:34310159|PMID:34426522|PMID:34558151|PMID:35241752|PMID:35352813|PMID:35626289|PMID:37818629|PMID:37929589|PMID:38891079|PMID:39260623|PMID:8994428
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:733068	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:12507422|PMID:14567970|PMID:15781201|PMID:16352453|PMID:17084280|PMID:18505755|PMID:20044516|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26656175|PMID:28492532|PMID:9039266
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:733068	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:12507422|PMID:14567970|PMID:15781201|PMID:16352453|PMID:17084280|PMID:18505755|PMID:20044516|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26656175|PMID:28492532|PMID:33035702|PMID:9039266
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:733068	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy	PMID:28492532
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:2843	long QT syndrome		ISO	RGD:733068	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:24033266|PMID:25741868|PMID:28492532|PMID:28790153|PMID:29255176|PMID:30847666
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:303	substance-related disorder		ISO	RGD:733068	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:733068	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:6000	congestive heart failure		ISO	RGD:733069	D	RGD:9068941	20220825	MouseDO			
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:9001681	Primrose Syndrome		ISO	RGD:733068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primrose syndrome	PMID:25741868
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:71092	D	RGD:9068941	20200609	RGD			PMID:11113014|REF_RGD_ID:1598503
8742720	Csrp3	cysteine and glycine rich protein 3	gene	DOID:9006205	Animal Disease Models		ISO	RGD:733068	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:0050127	sinusitis		ISO	RGD:1349510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sinusitis	PMID:25741868
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349510	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:0070025	X-linked dyskeratosis congenita		ISO	RGD:1349510	D	RGD:7240710	20180502	OMIM			
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:0070025	X-linked dyskeratosis congenita		ISO	RGD:1349510	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DKC1-related condition | ClinVar Annotator: match by term: DYSKERATOSIS CONGENITA, X-LINKED | ClinVar Annotator: match by term: Dyskeratosis congenita X-linked | ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked	PMID:10364516|PMID:10583221|PMID:10591218|PMID:11491307|PMID:11641517|PMID:12437656|PMID:14648217|PMID:15304085|PMID:16332973|PMID:16690864|PMID:18212040|PMID:18627054|PMID:19734544|PMID:19835419|PMID:19879169|PMID:20008900|PMID:20301779|PMID:21602826|PMID:21931702|PMID:22058290|PMID:22117216|PMID:22664374|PMID:23279657|PMID:23660516|PMID:23707062|PMID:23946118|PMID:24115260|PMID:24914498|PMID:25741868|PMID:25940403|PMID:25992652|PMID:26360549|PMID:26571381|PMID:28492532|PMID:28930861|PMID:29483670|PMID:30202881|PMID:31027506|PMID:31474318|PMID:31839986|PMID:32076714|PMID:32123317|PMID:33718801|PMID:34343137|PMID:35929966|PMID:36542832|PMID:38863712|PMID:39085356|PMID:768476|PMID:9590285|PMID:9888995
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1349510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:10754	otitis media		ISO	RGD:1349510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25741868
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:12449	aplastic anemia		ISO	RGD:1349510	D	RGD:9068941	20200609	RGD		DNA:missense mutations:exon:p.V105G, p.S121A (human)	PMID:26360549|REF_RGD_ID:11251733
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:12450	pancytopenia		ISO	RGD:1349510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancytopenia	
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:13757	excessive tearing		ISO	RGD:1349510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epiphora	
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1615626	D	RGD:9068941	20200609	RGD			PMID:12522253|REF_RGD_ID:11251731
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:2355	anemia		ISO	RGD:1349510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:1349510	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita	PMID:10364516|PMID:10583221|PMID:11379875|PMID:11491307|PMID:11641517|PMID:14648217|PMID:16332973|PMID:17576681|PMID:18627054|PMID:19734544|PMID:19835419|PMID:20301779|PMID:21736606|PMID:22664374|PMID:24914498|PMID:25455995|PMID:25741868|PMID:25940403|PMID:26360549|PMID:28492532|PMID:31027506|PMID:32123317|PMID:33718801|PMID:34343137|PMID:35384376|PMID:36542832|PMID:38863712|PMID:39085356|PMID:9536098
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:3390	palmoplantar keratosis		ISO	RGD:1349510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Palmoplantar keratosis	
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1349510	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis	
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:4961	bone marrow disease		ISO	RGD:1349510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1349510	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:25741868
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:614	lymphopenia		ISO	RGD:1615626	D	RGD:9068941	20200609	RGD			PMID:12522253|REF_RGD_ID:11251731
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:9000594	Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1		ISO	RGD:1349510	D	RGD:7240710	20230712	OMIM			
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:9000594	Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1		ISO	RGD:1349510	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1	PMID:25741868|PMID:28492532
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:9001272	Hoyeraal-Hreidarsson Syndrome		ISO	RGD:1349510	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome	PMID:10583221|PMID:11491307|PMID:14648217|PMID:16332973|PMID:19734544|PMID:19835419|PMID:20301779|PMID:24914498|PMID:25741868|PMID:25940403|PMID:26360549|PMID:28492532|PMID:31027506
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1349510	D	RGD:9068941	20200609	RGD			PMID:18077792|REF_RGD_ID:11251735
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:9002720	Splenomegaly		ISO	RGD:1349510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1349510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:9563	bronchiectasis		ISO	RGD:1349510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiectasis	PMID:25741868
8742760	Dkc1	dyskerin pseudouridine synthase 1	gene	DOID:9655	oral mucosa leukoplakia		ISO	RGD:1349510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oral mucosa leukoplakia	
8742778	Vps33a	VPS33A core subunit of CORVET and HOPS complexes	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8742778	Vps33a	VPS33A core subunit of CORVET and HOPS complexes	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8742778	Vps33a	VPS33A core subunit of CORVET and HOPS complexes	gene	DOID:10534	stomach cancer		ISO	RGD:731826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8742778	Vps33a	VPS33A core subunit of CORVET and HOPS complexes	gene	DOID:1115	sarcoma		ISO	RGD:731826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8742778	Vps33a	VPS33A core subunit of CORVET and HOPS complexes	gene	DOID:1324	lung cancer		ISO	RGD:731826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	PMID:25741868|PMID:28492532
8742778	Vps33a	VPS33A core subunit of CORVET and HOPS complexes	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:731827	D	RGD:9068941	20220825	MouseDO			
8742778	Vps33a	VPS33A core subunit of CORVET and HOPS complexes	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8742778	Vps33a	VPS33A core subunit of CORVET and HOPS complexes	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8742778	Vps33a	VPS33A core subunit of CORVET and HOPS complexes	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8742778	Vps33a	VPS33A core subunit of CORVET and HOPS complexes	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8742778	Vps33a	VPS33A core subunit of CORVET and HOPS complexes	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8742778	Vps33a	VPS33A core subunit of CORVET and HOPS complexes	gene	DOID:9006933	Mucopolysaccharidosis-Plus Syndrome		ISO	RGD:731826	D	RGD:7240710	20190315	OMIM			
8742778	Vps33a	VPS33A core subunit of CORVET and HOPS complexes	gene	DOID:9006933	Mucopolysaccharidosis-Plus Syndrome		ISO	RGD:731826	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME | ClinVar Annotator: match by term: Mucopolysaccharidosis-plus syndrome | ClinVar Annotator: match by term: VPS33A-related condition | ClinVar Annotator: match by term: mucopolysaccharidosis-plus syndrome	PMID:25741868|PMID:28492532
8742778	Vps33a	VPS33A core subunit of CORVET and HOPS complexes	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8742778	Vps33a	VPS33A core subunit of CORVET and HOPS complexes	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8742801	Cbll1	Cbl proto-oncogene like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8742801	Cbll1	Cbl proto-oncogene like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8742801	Cbll1	Cbl proto-oncogene like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8742801	Cbll1	Cbl proto-oncogene like 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8742801	Cbll1	Cbl proto-oncogene like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8742801	Cbll1	Cbl proto-oncogene like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742801	Cbll1	Cbl proto-oncogene like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8742817	Kri1	KRI1 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8742817	Kri1	KRI1 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8742817	Kri1	KRI1 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8742817	Kri1	KRI1 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1607005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8742817	Kri1	KRI1 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1607005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8742817	Kri1	KRI1 homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8742817	Kri1	KRI1 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1607005	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8742817	Kri1	KRI1 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742817	Kri1	KRI1 homolog	gene	DOID:6039	uveal melanoma		ISO	RGD:1607005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8742817	Kri1	KRI1 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8742817	Kri1	KRI1 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8742840	Anxa1	annexin A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:730873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8742840	Anxa1	annexin A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8742840	Anxa1	annexin A1	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:730873	D	RGD:9068941	20200609	RGD		protein:decreased expression:mammary gland	PMID:22323911|REF_RGD_ID:7421537
8742840	Anxa1	annexin A1	gene	DOID:0060180	colitis		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		protein:increased expression:colon, neutrophil	PMID:10489933|REF_RGD_ID:2306920
8742840	Anxa1	annexin A1	gene	DOID:0080600	COVID-19		ISO	RGD:730873	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8742840	Anxa1	annexin A1	gene	DOID:10140	dry eye syndrome		ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:23201116|REF_RGD_ID:7421553
8742840	Anxa1	annexin A1	gene	DOID:10247	pleurisy		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:15784654|REF_RGD_ID:2306907
8742840	Anxa1	annexin A1	gene	DOID:10534	stomach cancer		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:23236538|REF_RGD_ID:7421587
8742840	Anxa1	annexin A1	gene	DOID:10763	hypertension		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		protein:altered localization:vascular associated smooth muscle cell	PMID:16109804|REF_RGD_ID:1599668
8742840	Anxa1	annexin A1	gene	DOID:10763	hypertension		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22228705
8742840	Anxa1	annexin A1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8742840	Anxa1	annexin A1	gene	DOID:1115	sarcoma		ISO	RGD:730873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8742840	Anxa1	annexin A1	gene	DOID:13141	uveitis		ISO	RGD:10164	D	RGD:9068941	20200609	RGD			PMID:23645879|REF_RGD_ID:7421538
8742840	Anxa1	annexin A1	gene	DOID:13141	uveitis		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:21633711|REF_RGD_ID:7421539
8742840	Anxa1	annexin A1	gene	DOID:13141	uveitis	treatment	ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:23645879|REF_RGD_ID:7421538
8742840	Anxa1	annexin A1	gene	DOID:1350	paranasal sinus benign neoplasm		ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:20970165|REF_RGD_ID:7421559
8742840	Anxa1	annexin A1	gene	DOID:1459	hypothyroidism		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:9022675|REF_RGD_ID:2306952
8742840	Anxa1	annexin A1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
8742840	Anxa1	annexin A1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:8919037|REF_RGD_ID:7421562
8742840	Anxa1	annexin A1	gene	DOID:1793	pancreatic cancer		ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:19173988|REF_RGD_ID:2325722
8742840	Anxa1	annexin A1	gene	DOID:1793	pancreatic cancer		ISO	RGD:730873	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:17974280|REF_RGD_ID:2325723
8742840	Anxa1	annexin A1	gene	DOID:1909	melanoma		ISO	RGD:730873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8742840	Anxa1	annexin A1	gene	DOID:2316	brain ischemia		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:1830327|REF_RGD_ID:7421662
8742840	Anxa1	annexin A1	gene	DOID:2316	brain ischemia	treatment	ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:1830327|REF_RGD_ID:7421662
8742840	Anxa1	annexin A1	gene	DOID:2671	transitional cell carcinoma	severity	ISO	RGD:2118	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:urinary bladder	PMID:17994624|REF_RGD_ID:2306889
8742840	Anxa1	annexin A1	gene	DOID:2734	keratosis follicularis		ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:8919037|REF_RGD_ID:7421562
8742840	Anxa1	annexin A1	gene	DOID:2773	contact dermatitis		ISO	RGD:10164	D	RGD:9068941	20200609	RGD			PMID:23267026|REF_RGD_ID:7421573
8742840	Anxa1	annexin A1	gene	DOID:2841	asthma		ISO	RGD:10164	D	RGD:9068941	20200609	RGD			PMID:22092555|REF_RGD_ID:7421657
8742840	Anxa1	annexin A1	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:18776816|REF_RGD_ID:7421535
8742840	Anxa1	annexin A1	gene	DOID:3008	invasive ductal carcinoma	treatment	ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:19171478|REF_RGD_ID:7421560
8742840	Anxa1	annexin A1	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:22101490|REF_RGD_ID:7421583
8742840	Anxa1	annexin A1	gene	DOID:305	carcinoma		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462|PMID:16316942
8742840	Anxa1	annexin A1	gene	DOID:3069	malignant astrocytoma		ISO	RGD:730873	D	RGD:9068941	20200609	RGD		associated with Tuberous Sclerosis;mRNA:increased expression:brain	PMID:20133820|REF_RGD_ID:7421564
8742840	Anxa1	annexin A1	gene	DOID:326	ischemia		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:17653046|REF_RGD_ID:2306896
8742840	Anxa1	annexin A1	gene	DOID:3526	cerebral infarction	treatment	ISO	RGD:2118	D	RGD:9068941	20200609	RGD		associated with Ischemic Attack, Transient	PMID:22617647|REF_RGD_ID:7483559
8742840	Anxa1	annexin A1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
8742840	Anxa1	annexin A1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung	PMID:9269316|REF_RGD_ID:2306948
8742840	Anxa1	annexin A1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19381893
8742840	Anxa1	annexin A1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:730873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8742840	Anxa1	annexin A1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:14587099|REF_RGD_ID:7421570
8742840	Anxa1	annexin A1	gene	DOID:557	kidney disease		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20484890
8742840	Anxa1	annexin A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742840	Anxa1	annexin A1	gene	DOID:6498	seborrheic keratosis		ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:8919037|REF_RGD_ID:7421562
8742840	Anxa1	annexin A1	gene	DOID:76	stomach disease		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15472012
8742840	Anxa1	annexin A1	gene	DOID:7998	hyperthyroidism		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:9022675|REF_RGD_ID:2306952
8742840	Anxa1	annexin A1	gene	DOID:83	cataract		ISO	RGD:10164	D	RGD:9068941	20200609	RGD		DNA, protein:polymorphism: :p.R212I (mouse)	PMID:19003866|REF_RGD_ID:7421556
8742840	Anxa1	annexin A1	gene	DOID:83	cataract		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:1385581|REF_RGD_ID:7421566
8742840	Anxa1	annexin A1	gene	DOID:8893	psoriasis		ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:8919037|REF_RGD_ID:7421562
8742840	Anxa1	annexin A1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:neuron,glial cell	PMID:15248295|REF_RGD_ID:10053688
8742840	Anxa1	annexin A1	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:17917587|REF_RGD_ID:2306891
8742840	Anxa1	annexin A1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19381893
8742840	Anxa1	annexin A1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462|PMID:16316942|PMID:22248470
8742840	Anxa1	annexin A1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:10164	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Experimental	PMID:20308542|PMID:20821804|REF_RGD_ID:7421541|REF_RGD_ID:7421563
8742840	Anxa1	annexin A1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Experimental	PMID:20308542|REF_RGD_ID:7421563
8742840	Anxa1	annexin A1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Experimental;protein:increased expression:lung	PMID:9514092|REF_RGD_ID:2306939
8742840	Anxa1	annexin A1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20308542
8742840	Anxa1	annexin A1	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:730873	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Experimental	PMID:20821804|REF_RGD_ID:7421541
8742840	Anxa1	annexin A1	gene	DOID:9001472	Nasal Polyps		ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:20549082|REF_RGD_ID:7421567
8742840	Anxa1	annexin A1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:8755646|REF_RGD_ID:2306954
8742840	Anxa1	annexin A1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8742840	Anxa1	annexin A1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:9222544|REF_RGD_ID:2306950
8742840	Anxa1	annexin A1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal root ganglion	PMID:21990306|REF_RGD_ID:7421656
8742840	Anxa1	annexin A1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17566973
8742840	Anxa1	annexin A1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:10164	D	RGD:9068941	20200609	RGD			PMID:23267026|REF_RGD_ID:7421573
8742840	Anxa1	annexin A1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:10403283|REF_RGD_ID:2306928
8742840	Anxa1	annexin A1	gene	DOID:9002605	Delayed Hypersensitivity		ISO	RGD:10164	D	RGD:9068941	20200609	RGD			PMID:23267026|REF_RGD_ID:7421573
8742840	Anxa1	annexin A1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:16034371|REF_RGD_ID:2306905
8742840	Anxa1	annexin A1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, astrocyte, macrophage	PMID:9472682|REF_RGD_ID:2306942
8742840	Anxa1	annexin A1	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:10164	D	RGD:9068941	20200609	RGD			PMID:22782996|REF_RGD_ID:7421558
8742840	Anxa1	annexin A1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15654357
8742840	Anxa1	annexin A1	gene	DOID:9004945	Ocular Toxoplasmosis		ISO	RGD:10164	D	RGD:9068941	20200609	RGD			PMID:22740770|REF_RGD_ID:7421536
8742840	Anxa1	annexin A1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:16316942|REF_RGD_ID:2306898
8742840	Anxa1	annexin A1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462|PMID:16316942
8742840	Anxa1	annexin A1	gene	DOID:9005372	Inflammation		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		protein:increased expression:mast cell granule, cytoplasm	PMID:11005211|REF_RGD_ID:7421660
8742840	Anxa1	annexin A1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		protein:increased glycation:respiratory system blood vessel endothelium	PMID:11423489|REF_RGD_ID:2306888
8742840	Anxa1	annexin A1	gene	DOID:9005941	Rhinosinusitis		ISO	RGD:730873	D	RGD:9068941	20200609	RGD		associated with Nasal Polyps	PMID:22279949|REF_RGD_ID:7421555
8742840	Anxa1	annexin A1	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:20953576|REF_RGD_ID:7421585
8742840	Anxa1	annexin A1	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		protein:increased expression:sciatic nerve	PMID:10603033|REF_RGD_ID:2306914
8742840	Anxa1	annexin A1	gene	DOID:9006779	Discoid Lupus Erythematosus		ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:20701627|REF_RGD_ID:7421565
8742840	Anxa1	annexin A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8742840	Anxa1	annexin A1	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
8742840	Anxa1	annexin A1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:10164	D	RGD:9068941	20200609	RGD			PMID:22924634|REF_RGD_ID:7421655
8742840	Anxa1	annexin A1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		protein:increased expression:heart, leukocyte	PMID:11641252|REF_RGD_ID:2306910
8742840	Anxa1	annexin A1	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:22924634|REF_RGD_ID:7421655
8742840	Anxa1	annexin A1	gene	DOID:9008110	Blister		ISO	RGD:730873	D	RGD:9068941	20200609	RGD		associated with Hypersensitivity, Delayed;protein:increased expression:mononuclear cell	PMID:10331485|REF_RGD_ID:7421575
8742840	Anxa1	annexin A1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17405164
8742840	Anxa1	annexin A1	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:20353277|REF_RGD_ID:7421540
8742840	Anxa1	annexin A1	gene	DOID:9588	encephalitis		ISO	RGD:10164	D	RGD:9068941	20200609	RGD		associated with Sepsis	PMID:22964301|REF_RGD_ID:7421580
8742857	Bmp3	bone morphogenetic protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8742857	Bmp3	bone morphogenetic protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:735356	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8742857	Bmp3	bone morphogenetic protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742857	Bmp3	bone morphogenetic protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8742857	Bmp3	bone morphogenetic protein 3	gene	DOID:9001547	Tibial Fractures		ISO	RGD:2212	D	RGD:9068941	20200609	RGD		protein:increased expression:tibia	PMID:16651391|REF_RGD_ID:2289037
8742870	Spock3	SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8742870	Spock3	SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1313840	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8742870	Spock3	SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742870	Spock3	SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8742870	Spock3	SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8742902	Calcr	calcitonin receptor	gene	DOID:10534	stomach cancer		ISO	RGD:731272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8742902	Calcr	calcitonin receptor	gene	DOID:1115	sarcoma		ISO	RGD:731272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8742902	Calcr	calcitonin receptor	gene	DOID:11476	osteoporosis		ISO	RGD:731272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CALCR-related condition | ClinVar Annotator: match by term: Osteoporosis	PMID:25741868
8742902	Calcr	calcitonin receptor	gene	DOID:11476	osteoporosis	susceptibility	ISO	RGD:731272	D	RGD:7240710	20230505	OMIM			
8742902	Calcr	calcitonin receptor	gene	DOID:12678	hypercalcemia		ISO	RGD:731272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18627265
8742902	Calcr	calcitonin receptor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8742902	Calcr	calcitonin receptor	gene	DOID:9003870	Herpes Simplex Encephalitis	treatment	ISO	RGD:621001	D	RGD:9068941	20200609	RGD			PMID:22761571|REF_RGD_ID:7240516
8742902	Calcr	calcitonin receptor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8742925	Katna1	katanin catalytic subunit A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8742925	Katna1	katanin catalytic subunit A1	gene	DOID:10534	stomach cancer		ISO	RGD:1353857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8742925	Katna1	katanin catalytic subunit A1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8742925	Katna1	katanin catalytic subunit A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742925	Katna1	katanin catalytic subunit A1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1353857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8742925	Katna1	katanin catalytic subunit A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8742967	Adam12	ADAM metallopeptidase domain 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8742967	Adam12	ADAM metallopeptidase domain 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8742967	Adam12	ADAM metallopeptidase domain 12	gene	DOID:1909	melanoma		ISO	RGD:1317265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8742967	Adam12	ADAM metallopeptidase domain 12	gene	DOID:4362	cervical cancer		ISO	RGD:1317265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8742967	Adam12	ADAM metallopeptidase domain 12	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8742967	Adam12	ADAM metallopeptidase domain 12	gene	DOID:5199	ureteral obstruction		ISO	RGD:1317266	D	RGD:9068941	20200609	RGD			PMID:24103556|REF_RGD_ID:13703030
8742967	Adam12	ADAM metallopeptidase domain 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8742967	Adam12	ADAM metallopeptidase domain 12	gene	DOID:8398	osteoarthritis	susceptibility	ISO	RGD:1317265	D	RGD:9068941	20200609	RGD			PMID:15334463|REF_RGD_ID:1625347
8742967	Adam12	ADAM metallopeptidase domain 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8742967	Adam12	ADAM metallopeptidase domain 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8742990	Crym	crystallin mu	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8742990	Crym	crystallin mu	gene	DOID:0110566	autosomal dominant nonsyndromic deafness 40		ISO	RGD:734218	D	RGD:7240710	20180130	OMIM			
8742990	Crym	crystallin mu	gene	DOID:0110566	autosomal dominant nonsyndromic deafness 40		ISO	RGD:734218	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CRYM-related condition | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 40 | ClinVar Annotator: match by term: Deafness, autosomal dominant 40	PMID:24033266|PMID:25741868|PMID:28492532
8742990	Crym	crystallin mu	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:734218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	
8742990	Crym	crystallin mu	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8742990	Crym	crystallin mu	gene	DOID:12849	autistic disorder		ISO	RGD:734218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
8742990	Crym	crystallin mu	gene	DOID:1909	melanoma		ISO	RGD:734218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8742990	Crym	crystallin mu	gene	DOID:3275	thymoma		ISO	RGD:734218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8742990	Crym	crystallin mu	gene	DOID:6000	congestive heart failure		ISO	RGD:734218	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
8742990	Crym	crystallin mu	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:734218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8742990	Crym	crystallin mu	gene	DOID:9008681	Deafness		ISO	RGD:734218	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.K314T (human)	PMID:12471561|REF_RGD_ID:734836
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:734016	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868|PMID:33743206
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:734016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:734016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:734016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:734016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:2033	communication disorder		ISO	RGD:734016	D	RGD:9068941	20231109	RGD		DNA:SNP:CDS:multiple (human)	PMID:35642741|REF_RGD_ID:401854249
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:734016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:734016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:734016	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:734016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:734016	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:9000918	Disease Progression		ISO	RGD:734016	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:734016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:9004434	WHITE-KERNOHAN SYNDROME		ISO	RGD:734016	D	RGD:7240710	20210901	OMIM			
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:9004434	WHITE-KERNOHAN SYNDROME		ISO	RGD:734016	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: WHITE-KERNOHAN SYNDROME | ClinVar Annotator: match by term: White-Kernohan syndrome	PMID:25741868|PMID:33743206
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:734016	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8743020	Ddb1	damage specific DNA binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8743051	Setd7	SET domain containing 7, histone lysine methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8743051	Setd7	SET domain containing 7, histone lysine methyltransferase	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:1586346	D	RGD:9068941	20240201	RGD		mRNA:decreased expression:pituitary gland (rat)	PMID:26509893|REF_RGD_ID:11344152
8743051	Setd7	SET domain containing 7, histone lysine methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8743051	Setd7	SET domain containing 7, histone lysine methyltransferase	gene	DOID:13619	extrahepatic cholestasis	treatment	ISO	RGD:1586346	D	RGD:9068941	20200609	RGD			PMID:24097032|REF_RGD_ID:9491846
8743051	Setd7	SET domain containing 7, histone lysine methyltransferase	gene	DOID:1561	cognitive disorder		ISO	RGD:1606498	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: therapeutic	PMID:35187972
8743051	Setd7	SET domain containing 7, histone lysine methyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1606498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8743051	Setd7	SET domain containing 7, histone lysine methyltransferase	gene	DOID:2394	ovarian cancer		ISO	RGD:1606498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8743051	Setd7	SET domain containing 7, histone lysine methyltransferase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8743051	Setd7	SET domain containing 7, histone lysine methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743051	Setd7	SET domain containing 7, histone lysine methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:0060539	Hermansky-Pudlak syndrome 1		ISO	RGD:1553020	D	RGD:9068941	20220825	MouseDO		OMIM:203300	
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:0060540	Hermansky-Pudlak syndrome 2		ISO	RGD:1318559	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2	PMID:28492532
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:0061300	Hermansky-Pudlak syndrome 10		ISO	RGD:1318559	D	RGD:7240710	20190315	OMIM			
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:0061300	Hermansky-Pudlak syndrome 10		ISO	RGD:1318559	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AP3D1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 10	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:1115	sarcoma		ISO	RGD:1318559	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:1324	lung cancer		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:1909	melanoma		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:28492532
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:2223	platelet storage pool deficiency		ISO	RGD:1553020	D	RGD:9068941	20220825	MouseDO		OMIM:185050	
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1318559	D	RGD:9068941	20250410	CTD		CTD Direct Evidence: marker/mechanism	
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:630	genetic disease		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:9001386	Albinism		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albinism	PMID:25741868
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:9003417	Menorrhagia		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Menorrhagia	PMID:28492532
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:9008421	Epistaxis		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:28492532
8743066	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8743113	Tifa	TRAF interacting protein with forkhead associated domain	gene	DOID:0060058	lymphoma		ISO	RGD:1606192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8743113	Tifa	TRAF interacting protein with forkhead associated domain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:0050581	brachydactyly		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:0050847	sleep apnea		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:0050902	medulloblastoma		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:0050934	ovarian clear cell carcinoma	treatment	ISO	RGD:1321437	D	RGD:9068941	20210409	RGD		human cell in mouse model	PMID:21900401|REF_RGD_ID:126725086
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:1321437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:0060857	septooptic dysplasia		ISO	RGD:1321437	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Septo-optic dysplasia	PMID:25741868|PMID:35885948
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:0070042	Coffin-Siris syndrome 1		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12	PMID:22426308|PMID:25168959|PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:0070044	Coffin-Siris syndrome 2		ISO	RGD:1321437	D	RGD:7240710	20180130	OMIM			
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:0070044	Coffin-Siris syndrome 2		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14	PMID:18414213|PMID:20826764|PMID:21590771|PMID:21900401|PMID:22009941|PMID:23202128|PMID:25741868|PMID:27993330|PMID:28492532|PMID:35353340|PMID:36348021|PMID:38600891
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1321437	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868|PMID:28492532
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:0080199	colorectal carcinoma	onset	ISO	RGD:1321437	D	RGD:9068941	20210430	RGD		protein:decreased expression:colorectum (human)	PMID:24925223|REF_RGD_ID:126790632
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1321437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:21163964|PMID:22009941|PMID:23208470|PMID:27993330|PMID:28726821|PMID:33172502
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:0080707	medulloblastoma non-WNT/non-SHH group 3		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 3	PMID:21163964|PMID:22009941|PMID:27993330|PMID:28726821
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:0080875	IDH-mutant anaplastic astrocytoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astrocytoma IDH-mutant	PMID:27993330|PMID:30710203|PMID:35604410|PMID:37185778
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:23202128|PMID:23208470|PMID:27993330|PMID:28726821|PMID:30710203
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:1321437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192917
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:0111568	congenital vertical talus		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital vertical talus	PMID:23097632|PMID:25741868|PMID:35101336
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:10534	stomach cancer		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1321437	D	RGD:9068941	20210423	RGD		associated with Epstein-Barr Virus Infections;protein:decreased expression:stomach (human)	PMID:22915242|REF_RGD_ID:126781706
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1321437	D	RGD:9068941	20210430	RGD		protein:decreased expression:stomach (human)	PMID:26067140|PMID:26468418|PMID:30747208|PMID:32387347|REF_RGD_ID:126781704|REF_RGD_ID:126781773|REF_RGD_ID:126790633|REF_RGD_ID:126790641
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1321437	D	RGD:9068941	20210430	RGD		associated with Epstein-Barr Virus Infections;protein:decreased expression:stomach (human)	PMID:30664822|REF_RGD_ID:126848733
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1321437	D	RGD:9068941	20210430	RGD		protein:decreased expression:stomach (human)	PMID:26637902|PMID:29689245|REF_RGD_ID:126781725|REF_RGD_ID:126848744
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:10534	stomach cancer	susceptibility	ISO	RGD:1321437	D	RGD:9068941	20210430	RGD		DNA:missense mutation, nonsense mutation:exon 9: Pro912Thr (C>A), Gln920Ter (C >T) (Human)	PMID:32377988|REF_RGD_ID:126848772
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:1321437	D	RGD:9068941	20210402	RGD		human gene in mouse model	PMID:27323812|REF_RGD_ID:125097523
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:1059	intellectual disability		ISO	RGD:1321437	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:1059	intellectual disability		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25168959|PMID:25741868|PMID:28492532
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:10591	pre-eclampsia	disease_progression	ISO	RGD:1321437	D	RGD:9068941	20230413	RGD		associated with Fetal Growth Retardation; protein:increased expression:placenta, nucleus (human)	PMID:32529396|REF_RGD_ID:243065143
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:10907	microcephaly		ISO	RGD:1321437	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321437	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:21163964|PMID:22009941|PMID:23010866|PMID:23208470|PMID:23556151|PMID:23637025|PMID:24651015|PMID:25168959|PMID:25169878|PMID:25741868|PMID:27993330|PMID:28262751|PMID:28492532|PMID:28726821|PMID:33172502|PMID:33741928
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:1115	sarcoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:11162	respiratory failure		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:11193	syndactyly		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndactyly	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:11782	astigmatism		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:12128	pica disease		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pica	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:12783	migraine without aura		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine without aura	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:12849	autistic disorder		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1321437	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868|PMID:28492532
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:1324	lung cancer		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:13620	patent foramen ovale		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:1380	endometrial cancer	onset	ISO	RGD:1321437	D	RGD:9068941	20210409	RGD		protein:decreased expression:endometrium (human)	PMID:23887303|REF_RGD_ID:126779522
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:23097632|PMID:25741868|PMID:26069190|PMID:28492532|PMID:29736026|PMID:30343899|PMID:32868822|PMID:34386776|PMID:35101336
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:1612	breast cancer	treatment	ISO	RGD:1321437	D	RGD:9068941	20210507	RGD		human cells in mouse model	PMID:26069190|REF_RGD_ID:11072938
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:1657	ventricular septal defect		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:1826	epilepsy		ISO	RGD:1321437	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:1827	generalized epilepsy		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:1909	melanoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:1925	Coffin-Siris syndrome		ISO	RGD:1321437	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome	PMID:25741868|PMID:28492532
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:2154	nephroblastoma		ISO	RGD:1321437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:219	colon cancer	treatment	ISO	RGD:1321437	D	RGD:9068941	20210507	RGD		human cells in mouse model	PMID:26069190|REF_RGD_ID:11072938
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:2234	focal epilepsy		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:234	colon adenocarcinoma	disease_progression	ISO	RGD:1321437	D	RGD:9068941	20210430	RGD		protein:decreased expression:colorectum (human)	PMID:26980037|REF_RGD_ID:126790569
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:255	hemangioma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:28492532
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1321437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822268
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:2841	asthma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:2870	endometrial adenocarcinoma	treatment	ISO	RGD:1321437	D	RGD:9068941	20210409	RGD		human cell in mouse model	PMID:21900401|REF_RGD_ID:126725086
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1321437	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:299	adenocarcinoma		ISO	RGD:1321437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22484628
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma	PMID:24436047|PMID:26138366|PMID:27993330|PMID:34166060
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:3275	thymoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:3717	gastric adenocarcinoma	disease_progression	ISO	RGD:1321437	D	RGD:9068941	20210430	RGD		protein:decreased expression:stomach (human)	PMID:25717252|REF_RGD_ID:126848753
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:3717	gastric adenocarcinoma	exacerbates	ISO	RGD:1321437	D	RGD:9068941	20210409	RGD		mRNA, protein:decreased expression:mucosa of stomach (human)	PMID:22808142|REF_RGD_ID:125097488
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:3717	gastric adenocarcinoma	severity	ISO	RGD:1321437	D	RGD:9068941	20210402	RGD		mRNA:decreased expression:mucosa of stomach (human)	PMID:24293408|REF_RGD_ID:125097521
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:3907	lung squamous cell carcinoma	exacerbates	ISO	RGD:1321437	D	RGD:9068941	20210430	RGD		protein:decreased expression:lung (human)	PMID:32823232|REF_RGD_ID:126848760
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1321437	D	RGD:9068941	20210507	RGD		protein:decreased expression:lung (human)	PMID:24566899|REF_RGD_ID:126848781
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1321437	D	RGD:9068941	20210507	RGD		DNA:mutations	PMID:32791957|REF_RGD_ID:126848874
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:4051	alveolar rhabdomyosarcoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma	PMID:24436047|PMID:26138366|PMID:27993330|PMID:34166060
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:4362	cervical cancer		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:30343899|PMID:34386776|PMID:35101336
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:4621	holoprosencephaly		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly sequence	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:480	movement disease		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:4907	small intestine carcinoma	exacerbates	ISO	RGD:1321437	D	RGD:9068941	20210416	RGD		protein:decreased expression:small intestine (human)	PMID:25400081|REF_RGD_ID:126781719
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:1321437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23525077
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:4914	esophagus adenocarcinoma	disease_progression	ISO	RGD:1321437	D	RGD:9068941	20210625	RGD			PMID:31906887|REF_RGD_ID:127285649
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:4927	Klatskin's tumor	disease_progression	ISO	RGD:1321437	D	RGD:9068941	20210430	RGD		DNA:deletions	PMID:33387086|REF_RGD_ID:126848756
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:4928	intrahepatic cholangiocarcinoma	disease_progression	ISO	RGD:1321437	D	RGD:9068941	20200609	RGD			PMID:30849962|REF_RGD_ID:14974231
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:4928	intrahepatic cholangiocarcinoma	disease_progression	ISO	RGD:1321437	D	RGD:9068941	20210423	RGD		mRNA,protein:decreased expression:intrahepatic bile duct (human)	PMID:27433094|REF_RGD_ID:126775257
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:4928	intrahepatic cholangiocarcinoma	exacerbates	ISO	RGD:1321437	D	RGD:9068941	20210423	RGD		protein:decreased expression:intrahepatic bile duct (human)	PMID:31665232|REF_RGD_ID:126781775
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:1321437	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:540	strabismus		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:5517	stomach carcinoma	disease_progression	ISO	RGD:1321437	D	RGD:9068941	20210423	RGD		protein:decreased expression:stomach (human)	PMID:24767857|REF_RGD_ID:125097484
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:552	pneumonia		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:5744	ovary serous adenocarcinoma		ISO	RGD:1321437	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Primary low grade serous adenocarcinoma of ovary	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:6132	bronchitis		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic bronchitis	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:630	genetic disease		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22009941|PMID:22037554|PMID:25741868|PMID:28401006|PMID:28492532|PMID:29736026|PMID:35101336|PMID:35353340
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:6364	migraine		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:674	cleft palate		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:23097632|PMID:25741868|PMID:35101336
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1321437	D	RGD:9068941	20210430	RGD		human gene in mouse model	PMID:29136504|REF_RGD_ID:126790634
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1321438	D	RGD:9068941	20210423	RGD		associated with non-alcoholic steatohepatitis	PMID:26569409|REF_RGD_ID:11344640
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1321438	D	RGD:9068941	20210430	RGD			PMID:29136504|REF_RGD_ID:126790634
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1321438	D	RGD:9068941	20210402	RGD			PMID:29113912|REF_RGD_ID:125097519
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:687	hepatoblastoma		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEPATOBLASTOMA	PMID:22009941|PMID:24382590|PMID:27993330|PMID:31217031|PMID:33080474|PMID:35421925
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:769	neuroblastoma		ISO	RGD:1321437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23202128
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:769	neuroblastoma		ISO	RGD:1321437	D	RGD:9068941	20200609	RGD		DNA:mutations,loss of heterozygosity: :	PMID:23202128|REF_RGD_ID:13439724
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:7698	non-functioning pancreatic endocrine tumor	exacerbates	ISO	RGD:1321437	D	RGD:9068941	20210430	RGD		protein:decreased expression:endocrine pancreas (human)	PMID:32282764|REF_RGD_ID:126790640
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:850	lung disease		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:8541	Sezary's disease		ISO	RGD:1321437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26551670
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:8584	Burkitt lymphoma		ISO	RGD:1321437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143597
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:8927	learning disability		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:1321437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25701956
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1321437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22037554|PMID:22484628|PMID:24816253
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9000343	Vision Disorders		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Embryonal neoplasm	PMID:26384299|PMID:27993330|PMID:32111729
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:1321438	D	RGD:9068941	20210402	RGD		in lung; associated with hepatocellular carcinoma	PMID:25975202|REF_RGD_ID:125097495
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9001581	Constipation		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9001586	Experimental Liver Neoplasms	disease_progression	ISO	RGD:1321438	D	RGD:9068941	20210423	RGD			PMID:26569409|REF_RGD_ID:11344640
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	PMID:28492532
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1321437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475|PMID:29662167
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9002720	Splenomegaly		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25168959|PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9003133	Hypertelorism		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532|PMID:35353340
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9003145	Nuchal Bleb, Familial		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal cystic hygroma	PMID:23097632|PMID:25741868|PMID:35101336
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9003816	Macrocephaly		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321437	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9004538	Hearing Loss		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9004898	Jaundice		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:25168959|PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:23097632|PMID:25741868|PMID:35101336
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9005077	Joint Instability		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:35353340
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9005616	Micrognathism		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:23097632|PMID:25741868|PMID:35101336
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9006741	Acute Hepatitis	exacerbates	ISO	RGD:1321438	D	RGD:9068941	20210423	RGD			PMID:26569409|REF_RGD_ID:11344640
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868|PMID:28492532
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9007573	Flatfoot		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:28492532
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9007651	Chronic Bronchitis		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic bronchitis	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9007661	Dwarfism		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1321437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23104009
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:35353340
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1321437	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	PMID:25741868
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1321437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27941798
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1321437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31932695
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9256	colorectal cancer		ISO	RGD:1321437	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: colorectal cancer	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1321437	D	RGD:9068941	20210409	RGD		protein:decreased expression:colorectum (human)	PMID:25561809|REF_RGD_ID:126779574
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1321437	D	RGD:9068941	20210409	RGD		protein:decreased expression:colorectum (human)	PMID:31263894|REF_RGD_ID:126777686
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9261	nasopharynx carcinoma	disease_progression	ISO	RGD:1321437	D	RGD:9068941	20210416	RGD		protein:decreased expression:nasopharynx(human)	PMID:31213911|REF_RGD_ID:126781707
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9840	esotropia		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esodeviation	
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	PMID:23097632|PMID:25741868|PMID:35101336
8743154	Arid1a	AT-rich interaction domain 1A	gene	DOID:9970	obesity		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
8743194	Bsdc1	BSD domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8743194	Bsdc1	BSD domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8743194	Bsdc1	BSD domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1605672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8743194	Bsdc1	BSD domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1605672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8743194	Bsdc1	BSD domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8743194	Bsdc1	BSD domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605672	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8743194	Bsdc1	BSD domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605672	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8743194	Bsdc1	BSD domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743194	Bsdc1	BSD domain containing 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605672	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8743194	Bsdc1	BSD domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8743211	Psmb2	proteasome 20S subunit beta 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8743211	Psmb2	proteasome 20S subunit beta 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8743211	Psmb2	proteasome 20S subunit beta 2	gene	DOID:0080600	COVID-19		ISO	RGD:732759	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8743211	Psmb2	proteasome 20S subunit beta 2	gene	DOID:10534	stomach cancer		ISO	RGD:732759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8743211	Psmb2	proteasome 20S subunit beta 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732759	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26039340
8743211	Psmb2	proteasome 20S subunit beta 2	gene	DOID:1115	sarcoma		ISO	RGD:732759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8743211	Psmb2	proteasome 20S subunit beta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743211	Psmb2	proteasome 20S subunit beta 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8743211	Psmb2	proteasome 20S subunit beta 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:732759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8743211	Psmb2	proteasome 20S subunit beta 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8743211	Psmb2	proteasome 20S subunit beta 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8743211	Psmb2	proteasome 20S subunit beta 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8743262	Mex3b	mex-3 RNA binding family member B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8743262	Mex3b	mex-3 RNA binding family member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8743262	Mex3b	mex-3 RNA binding family member B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8743271	Frmd4a	FERM domain containing 4A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8743271	Frmd4a	FERM domain containing 4A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8743271	Frmd4a	FERM domain containing 4A	gene	DOID:10534	stomach cancer		ISO	RGD:1350302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8743271	Frmd4a	FERM domain containing 4A	gene	DOID:10907	microcephaly		ISO	RGD:1350302	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8743271	Frmd4a	FERM domain containing 4A	gene	DOID:1115	sarcoma		ISO	RGD:1350302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8743271	Frmd4a	FERM domain containing 4A	gene	DOID:303	substance-related disorder		ISO	RGD:1350302	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8743271	Frmd4a	FERM domain containing 4A	gene	DOID:4362	cervical cancer		ISO	RGD:1350302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8743271	Frmd4a	FERM domain containing 4A	gene	DOID:5041	esophageal cancer		ISO	RGD:1350302	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8743271	Frmd4a	FERM domain containing 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743271	Frmd4a	FERM domain containing 4A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8743271	Frmd4a	FERM domain containing 4A	gene	DOID:9006921	CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA		ISO	RGD:1350302	D	RGD:7240710	20190315	OMIM			
8743271	Frmd4a	FERM domain containing 4A	gene	DOID:9006921	CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA		ISO	RGD:1350302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FRMD4A-related condition	PMID:25741868|PMID:28492532
8743271	Frmd4a	FERM domain containing 4A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8743302	Cadm2	cell adhesion molecule 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1313847	D	RGD:9068941	20200609	RGD			PMID:21996756|REF_RGD_ID:15092074
8743302	Cadm2	cell adhesion molecule 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8743302	Cadm2	cell adhesion molecule 2	gene	DOID:1115	sarcoma		ISO	RGD:1313847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8743302	Cadm2	cell adhesion molecule 2	gene	DOID:3069	malignant astrocytoma	severity	ISO	RGD:1313847	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:30816549|REF_RGD_ID:19165125
8743302	Cadm2	cell adhesion molecule 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8743302	Cadm2	cell adhesion molecule 2	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1313847	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver	PMID:24240726|REF_RGD_ID:15092075
8743302	Cadm2	cell adhesion molecule 2	gene	DOID:768	retinoblastoma		ISO	RGD:1313847	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:retina	PMID:30320366|REF_RGD_ID:15092072
8743302	Cadm2	cell adhesion molecule 2	gene	DOID:8893	psoriasis		ISO	RGD:1313847	D	RGD:9068941	20200609	RGD			PMID:21864505|REF_RGD_ID:15092073
8743302	Cadm2	cell adhesion molecule 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8743302	Cadm2	cell adhesion molecule 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8743302	Cadm2	cell adhesion molecule 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1313847	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs13078807 (human)	PMID:28401323|REF_RGD_ID:15092076
8743302	Cadm2	cell adhesion molecule 2	gene	DOID:9970	obesity		ISO	RGD:1313847	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs13078807 (human)	PMID:31341224|REF_RGD_ID:15092077
8743323	Ndufa2	NADH:ubiquinone oxidoreductase subunit A2	gene	DOID:0112076	nuclear type mitochondrial complex I deficiency 13		ISO	RGD:1320645	D	RGD:7240710	20190315	OMIM			
8743323	Ndufa2	NADH:ubiquinone oxidoreductase subunit A2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1320645	D	RGD:9068941	20200609	RGD			PMID:28474567|REF_RGD_ID:13792588
8743323	Ndufa2	NADH:ubiquinone oxidoreductase subunit A2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1320645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8743323	Ndufa2	NADH:ubiquinone oxidoreductase subunit A2	gene	DOID:9000918	Disease Progression		ISO	RGD:1320645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8743323	Ndufa2	NADH:ubiquinone oxidoreductase subunit A2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320645	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:0050861	colorectal adenocarcinoma	severity	ISO	RGD:733426	D	RGD:9068941	20210423	RGD			PMID:16507107|REF_RGD_ID:126781766
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:0050865	tongue squamous cell carcinoma	disease_progression	ISO	RGD:733426	D	RGD:9068941	20210423	RGD			PMID:19691460|REF_RGD_ID:126781771
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:733426	D	RGD:9068941	20200609	RGD			PMID:9470844|REF_RGD_ID:2289952
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:0060560	lethal congenital contracture syndrome 2		ISO	RGD:733426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethal congenital contracture syndrome 2 | ClinVar Annotator: match by term: MULTIPLE CONTRACTURE SYNDROME, ISRAELI BEDOUIN TYPE A	PMID:25741868|PMID:28492532|PMID:31752936|PMID:33935161
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:0060560	lethal congenital contracture syndrome 2	susceptibility	ISO	RGD:733426	D	RGD:7240710	20260729	OMIM			
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:0080072	intestinal pseudo-obstruction		ISO	RGD:733426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intestinal pseudoobstruction due to neuronal disease	PMID:25741868|PMID:28492532
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:0080679	neuronal intestinal dysplasia type A		ISO	RGD:733426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intestinal pseudoobstruction due to neuronal disease | ClinVar Annotator: match by term: VISCERAL NEUROPATHY, FAMILIAL, 1, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Visceral neuropathy, familial, 1, autosomal recessive	PMID:25741868|PMID:28492532|PMID:33497358
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:0080679	neuronal intestinal dysplasia type A	susceptibility	ISO	RGD:733426	D	RGD:7240710	20260729	OMIM			
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:10283	prostate cancer		ISO	RGD:733426	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:10283	prostate cancer		ISO	RGD:733426	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:733426	D	RGD:9068941	20200609	RGD		protein:altered localization:nucleus	PMID:17532856|REF_RGD_ID:2289946
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:10376	amblyopia		ISO	RGD:69323	D	RGD:9068941	20240411	RGD		protein:increased expression, increased phosphorylation:visual cortex	PMID:34273906|REF_RGD_ID:405649729
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:733426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:23680147|PMID:26619011|PMID:29533785|PMID:35101336
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:733426	D	RGD:9068941	20200609	RGD			PMID:16685269|REF_RGD_ID:2298502
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:1115	sarcoma		ISO	RGD:733426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:733426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:23680147|PMID:24909266|PMID:26619011|PMID:27993330|PMID:29247016|PMID:29338072|PMID:29360550|PMID:29533785|PMID:29954840|PMID:29963236|PMID:31663373|PMID:35101336|PMID:39196362|PMID:40178042
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:733426	D	RGD:9068941	20250109	RGD			PMID:16469638|REF_RGD_ID:2289980
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:733426	D	RGD:9068941	20250109	RGD		mRNA:increased expression:urinary bladder	PMID:14614020|REF_RGD_ID:2298506
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:2876	laryngeal squamous cell carcinoma	disease_progression	ISO	RGD:733426	D	RGD:9068941	20210423	RGD			PMID:22549618|REF_RGD_ID:126790474
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:69323	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:17908459|REF_RGD_ID:2289953
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:733426	D	RGD:9068941	20210423	RGD			PMID:11789762|REF_RGD_ID:126790479
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:733426	D	RGD:9068941	20210423	RGD			PMID:20364069|REF_RGD_ID:126790478
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:733426	D	RGD:9068941	20210423	RGD			PMID:26824984|REF_RGD_ID:126790475
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:4362	cervical cancer		ISO	RGD:733426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:733426	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:5517	stomach carcinoma	disease_progression	ISO	RGD:733426	D	RGD:9068941	20210423	RGD			PMID:21709195|REF_RGD_ID:126781768
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:571	median neuropathy		ISO	RGD:69323	D	RGD:9068941	20210423	RGD			PMID:18845940|PMID:19296522|REF_RGD_ID:10449020|REF_RGD_ID:126790486
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:733426	D	RGD:9068941	20210423	RGD			PMID:11355950|REF_RGD_ID:126781769
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:733426	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24997986
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:733426	D	RGD:9068941	20210423	RGD			PMID:24997986|REF_RGD_ID:126781772
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:69323	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:spinal cord	PMID:11797086|REF_RGD_ID:2289967
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:733426	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms;protein:increased expression, altered localization:lymph node, nucleus	PMID:17634423|REF_RGD_ID:2289944
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:733426	D	RGD:9068941	20210423	RGD		associated with head and neck squamous cell carcinoma	PMID:20604875|REF_RGD_ID:126790467
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9000918	Disease Progression		ISO	RGD:733426	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21638049
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:733426	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28114269
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:733426	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms;protein:alternative form	PMID:18559590|REF_RGD_ID:2298500
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:733426	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms;protein:increased expression, altered localization:bone, nucleus	PMID:17634423|REF_RGD_ID:2289944
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:733426	D	RGD:9068941	20210423	RGD		associated with lung adenocarcinoma	PMID:26254096|REF_RGD_ID:126790470
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733426	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17634423
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:69323	D	RGD:9068941	20200609	RGD			PMID:9030624|REF_RGD_ID:68774
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:733426	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:ovary	PMID:18575766|REF_RGD_ID:2298499
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:733426	D	RGD:9068941	20200609	RGD			PMID:16896008|REF_RGD_ID:2298501
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9002801	Recurrence		ISO	RGD:733426	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21638049
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9003373	Uterine Cervical Neoplasms	disease_progression	ISO	RGD:733426	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:17465227|REF_RGD_ID:2289947
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9004240	Phyllodes Tumor	disease_progression	ISO	RGD:733426	D	RGD:9068941	20200609	RGD			PMID:11206334|REF_RGD_ID:2289951
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9004265	Endometrioid Carcinomas		ISO	RGD:733426	D	RGD:9068941	20200609	RGD			PMID:16962163|REF_RGD_ID:2289950
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:733426	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12483526
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:733426	D	RGD:9068941	20200609	RGD			PMID:17203220|REF_RGD_ID:2289979
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:69323	D	RGD:9068941	20200609	RGD		protein:increased expression:oral epithelium	PMID:17704947|REF_RGD_ID:2289941
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:733426	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:10537356|REF_RGD_ID:2298505
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9008420	Familial Erythroleukemia	susceptibility	ISO	RGD:733426	D	RGD:7240710	20260729	OMIM			
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733426	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:21638049|PMID:28114269
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733426	D	RGD:9068941	20250109	RGD		mRNA:increased expression:breast	PMID:17465220|REF_RGD_ID:2289949
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:733426	D	RGD:9068941	20200609	RGD		DNA:amplification	PMID:18182100|REF_RGD_ID:2289942
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9256	colorectal cancer		ISO	RGD:733426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8743330	Erbb3	erb-b2 receptor tyrosine kinase 3	gene	DOID:9261	nasopharynx carcinoma	disease_progression	ISO	RGD:733426	D	RGD:9068941	20210423	RGD			PMID:24825912|REF_RGD_ID:126781774
8743381	Mrpl52	mitochondrial ribosomal protein L52	gene	DOID:10534	stomach cancer		ISO	RGD:1319568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8743381	Mrpl52	mitochondrial ribosomal protein L52	gene	DOID:1115	sarcoma		ISO	RGD:1319568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8743381	Mrpl52	mitochondrial ribosomal protein L52	gene	DOID:1324	lung cancer		ISO	RGD:1319568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8743381	Mrpl52	mitochondrial ribosomal protein L52	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8743381	Mrpl52	mitochondrial ribosomal protein L52	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743381	Mrpl52	mitochondrial ribosomal protein L52	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8743381	Mrpl52	mitochondrial ribosomal protein L52	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8743399	Fam133b	family with sequence similarity 133 member B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8743414	Rab1a	RAB1A, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8743414	Rab1a	RAB1A, member RAS oncogene family	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731304	D	RGD:9068941	20240425	MouseDO			
8743414	Rab1a	RAB1A, member RAS oncogene family	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8743414	Rab1a	RAB1A, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743414	Rab1a	RAB1A, member RAS oncogene family	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8743414	Rab1a	RAB1A, member RAS oncogene family	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8743414	Rab1a	RAB1A, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8743431	Znfx1	zinc finger NFX1-type containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8743431	Znfx1	zinc finger NFX1-type containing 1	gene	DOID:0061061	immunodeficiency 91		ISO	RGD:1603622	D	RGD:7240710	20220209	OMIM			
8743431	Znfx1	zinc finger NFX1-type containing 1	gene	DOID:0061061	immunodeficiency 91		ISO	RGD:1603622	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION | ClinVar Annotator: match by term: Immunodeficiency 91 and hyperinflammation | ClinVar Annotator: match by term: ZNFX1-related condition	PMID:25741868|PMID:28492532|PMID:33876776|PMID:34708404|PMID:39333773
8743431	Znfx1	zinc finger NFX1-type containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8743431	Znfx1	zinc finger NFX1-type containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1603622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8743431	Znfx1	zinc finger NFX1-type containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8743431	Znfx1	zinc finger NFX1-type containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8743431	Znfx1	zinc finger NFX1-type containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603622	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8743431	Znfx1	zinc finger NFX1-type containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743431	Znfx1	zinc finger NFX1-type containing 1	gene	DOID:630	genetic disease		ISO	RGD:1603622	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8743431	Znfx1	zinc finger NFX1-type containing 1	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1603622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25741868
8743431	Znfx1	zinc finger NFX1-type containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8743431	Znfx1	zinc finger NFX1-type containing 1	gene	DOID:9008385	Vomiting		ISO	RGD:1603622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868
8743448	Cacna2d3	calcium voltage-gated channel auxiliary subunit alpha2delta 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8743448	Cacna2d3	calcium voltage-gated channel auxiliary subunit alpha2delta 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8743448	Cacna2d3	calcium voltage-gated channel auxiliary subunit alpha2delta 3	gene	DOID:0060058	lymphoma		ISO	RGD:1349571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8743448	Cacna2d3	calcium voltage-gated channel auxiliary subunit alpha2delta 3	gene	DOID:10534	stomach cancer		ISO	RGD:1349571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8743448	Cacna2d3	calcium voltage-gated channel auxiliary subunit alpha2delta 3	gene	DOID:1115	sarcoma		ISO	RGD:1349571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8743448	Cacna2d3	calcium voltage-gated channel auxiliary subunit alpha2delta 3	gene	DOID:1324	lung cancer		ISO	RGD:1349571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
8743448	Cacna2d3	calcium voltage-gated channel auxiliary subunit alpha2delta 3	gene	DOID:1909	melanoma		ISO	RGD:1349571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8743448	Cacna2d3	calcium voltage-gated channel auxiliary subunit alpha2delta 3	gene	DOID:3275	thymoma		ISO	RGD:1349571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8743448	Cacna2d3	calcium voltage-gated channel auxiliary subunit alpha2delta 3	gene	DOID:4362	cervical cancer		ISO	RGD:1349571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8743448	Cacna2d3	calcium voltage-gated channel auxiliary subunit alpha2delta 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8743448	Cacna2d3	calcium voltage-gated channel auxiliary subunit alpha2delta 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8743448	Cacna2d3	calcium voltage-gated channel auxiliary subunit alpha2delta 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1349571	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8743448	Cacna2d3	calcium voltage-gated channel auxiliary subunit alpha2delta 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743448	Cacna2d3	calcium voltage-gated channel auxiliary subunit alpha2delta 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8743448	Cacna2d3	calcium voltage-gated channel auxiliary subunit alpha2delta 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
8743448	Cacna2d3	calcium voltage-gated channel auxiliary subunit alpha2delta 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8743448	Cacna2d3	calcium voltage-gated channel auxiliary subunit alpha2delta 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8743448	Cacna2d3	calcium voltage-gated channel auxiliary subunit alpha2delta 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8743540	Cplx1	complexin 1	gene	DOID:0050460	Wolf-Hirschhorn syndrome		ISO	RGD:735999	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	
8743540	Cplx1	complexin 1	gene	DOID:0080426	developmental and epileptic encephalopathy 63		ISO	RGD:735999	D	RGD:7240710	20190315	OMIM			
8743540	Cplx1	complexin 1	gene	DOID:0080426	developmental and epileptic encephalopathy 63		ISO	RGD:735999	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: CPLX1-related condition | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 63	PMID:25741868|PMID:26539891|PMID:28422131|PMID:28492532
8743540	Cplx1	complexin 1	gene	DOID:1115	sarcoma		ISO	RGD:735999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8743540	Cplx1	complexin 1	gene	DOID:1826	epilepsy		ISO	RGD:733328	D	RGD:9068941	20241114	RGD			PMID:11163241|REF_RGD_ID:734813
8743540	Cplx1	complexin 1	gene	DOID:2468	psychotic disorder		ISO	RGD:735999	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14708030
8743540	Cplx1	complexin 1	gene	DOID:3312	bipolar disorder		ISO	RGD:735999	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14708030
8743540	Cplx1	complexin 1	gene	DOID:5419	schizophrenia		ISO	RGD:735999	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14708030
8743540	Cplx1	complexin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743540	Cplx1	complexin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8743540	Cplx1	complexin 1	gene	DOID:630	genetic disease		ISO	RGD:735999	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8743540	Cplx1	complexin 1	gene	DOID:9000495	Tremor		ISO	RGD:70944	D	RGD:9068941	20210702	RGD			PMID:31875236|REF_RGD_ID:127285808
8743540	Cplx1	complexin 1	gene	DOID:9004866	Ataxia		ISO	RGD:70944	D	RGD:9068941	20210702	RGD			PMID:31875236|REF_RGD_ID:127285808
8743540	Cplx1	complexin 1	gene	DOID:9004866	Ataxia		ISO	RGD:733328	D	RGD:9068941	20200609	RGD			PMID:11163241|REF_RGD_ID:734813
8743562	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:0060058	lymphoma		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8743562	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:1059	intellectual disability		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868
8743562	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:1059	intellectual disability		ISO	RGD:1322982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:37092538
8743562	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:1115	sarcoma		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8743562	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:1324	lung cancer		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8743562	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:1826	epilepsy		ISO	RGD:1322982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:37092538
8743562	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:1909	melanoma		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8743562	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1322982	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
8743562	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1322982	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8743562	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743562	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8743562	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:630	genetic disease		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8743562	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CNOT9-associated neurodevelopmental disorder	PMID:25741868|PMID:37092538
8743562	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:37092538
8743587	Nhp2	NHP2 ribonucleoprotein	gene	DOID:0070017	autosomal recessive dyskeratosis congenita 2		ISO	RGD:1319777	D	RGD:7240710	20180130	OMIM			
8743587	Nhp2	NHP2 ribonucleoprotein	gene	DOID:0070017	autosomal recessive dyskeratosis congenita 2		ISO	RGD:1319777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 | ClinVar Annotator: match by term: NHP2-related condition	PMID:22752289|PMID:25741868|PMID:28492532|PMID:30964210|PMID:30995915|PMID:36933847
8743587	Nhp2	NHP2 ribonucleoprotein	gene	DOID:1115	sarcoma		ISO	RGD:1319777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8743587	Nhp2	NHP2 ribonucleoprotein	gene	DOID:1324	lung cancer		ISO	RGD:1319777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8743587	Nhp2	NHP2 ribonucleoprotein	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:1319777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita	PMID:16199547|PMID:17576681|PMID:22752289|PMID:25741868|PMID:28492532|PMID:30964210|PMID:30995915|PMID:31985013|PMID:36933847|PMID:9536098
8743587	Nhp2	NHP2 ribonucleoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743587	Nhp2	NHP2 ribonucleoprotein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8743587	Nhp2	NHP2 ribonucleoprotein	gene	DOID:9004373	Autosomal Recessive Dyskeratosis Congenita		ISO	RGD:1319777	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8743606	Stum	stum, mechanosensory transduction mediator homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8743606	Stum	stum, mechanosensory transduction mediator homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1605215	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8743606	Stum	stum, mechanosensory transduction mediator homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743635	Fzd9	frizzled class receptor 9	gene	DOID:1928	Williams-Beuren syndrome		ISO	RGD:734068	D	RGD:9068941	20250724	MouseDO		OMIM:194050	
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:10554	meningoencephalitis		ISO	RGD:61924	D	RGD:9068941	20200609	RGD		protein:increased expression:brain (rat)	PMID:16150122|REF_RGD_ID:2313041
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:62217	D	RGD:9068941	20200609	RGD		protein:altered expression:hippocampus (mouse)	PMID:19084047|REF_RGD_ID:2313023
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735562	D	RGD:9068941	20200609	RGD		mRNA:increased expression:frontal cortex (human)	PMID:16340083|REF_RGD_ID:2313045
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:10763	hypertension		ISO	RGD:735562	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:32147540
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:10825	essential hypertension		ISO	RGD:735562	D	RGD:9068941	20221110	CTD		CTD Direct Evidence: marker/mechanism	PMID:34453990
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:12098	trigeminal neuralgia		ISO	RGD:735562	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:12217	Lewy body dementia		ISO	RGD:735562	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276553
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:13949	interstitial cystitis	treatment	ISO	RGD:61924	D	RGD:9068941	20240411	RGD			PMID:30989724|REF_RGD_ID:405295490
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:735562	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276553
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:61924	D	RGD:9068941	20250529	RGD		mRNA:increased expression:hippocampus	PMID:32057593|REF_RGD_ID:405096486
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:1824	status epilepticus		ISO	RGD:61924	D	RGD:9068941	20200609	RGD		protein:increased expression:dentate gyrus,  brain subventricular zone (rat)	PMID:17178407|REF_RGD_ID:2313036
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:1826	epilepsy		ISO	RGD:61924	D	RGD:9068941	20241107	RGD		protein:increased expression:brain	PMID:16635480|REF_RGD_ID:2313039
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:1969	cerebral palsy		ISO	RGD:61924	D	RGD:9068941	20200609	RGD		protein:increased expression:corpus callosum (rat)	PMID:19010395|REF_RGD_ID:2313028
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:231	motor neuron disease		ISO	RGD:61924	D	RGD:9068941	20200609	RGD		protein:increased expression:cervical spinal cord (rat)	PMID:18931666|REF_RGD_ID:2313029
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:2316	brain ischemia		ISO	RGD:61924	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex (rat)	PMID:18301954|REF_RGD_ID:2313032
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:62217	D	RGD:9068941	20200609	RGD			PMID:18204784|REF_RGD_ID:2313033
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:2921	glomerulonephritis		ISO	RGD:61924	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney (rat)	PMID:17035944|REF_RGD_ID:2313038
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:3454	brain infarction		ISO	RGD:61924	D	RGD:9068941	20200609	RGD		protein:increased expression:brain subventricular zone (rat)	PMID:19053043|REF_RGD_ID:2313025
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:3454	brain infarction		ISO	RGD:735562	D	RGD:9068941	20200609	RGD		protein:increased expression:brain white matter (human)	PMID:10683518|REF_RGD_ID:2313026
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:735562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:61924	D	RGD:9068941	20200609	RGD		protein:altered expression:spinal cord dorsal horn (rat)	PMID:17158026|REF_RGD_ID:2313037
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:735562	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27157545
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:9000641	Pain		ISO	RGD:61924	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; protein:increased expression:spinal cord dorsal horn (rat)	PMID:18186080|REF_RGD_ID:2313034
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:9000855	Experimental Radiation Injuries		ISO	RGD:61924	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain (rat)	PMID:19070908|REF_RGD_ID:2313024
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:61924	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex (rat)	PMID:19520144|REF_RGD_ID:2313020
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735562	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:9001929	Hypoglossal Nerve Injuries		ISO	RGD:61924	D	RGD:9068941	20200609	RGD			PMID:9698327|REF_RGD_ID:704401
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:61924	D	RGD:9068941	20200609	RGD		associated with Alcohol-Induced Disorders, Nervous System; protein:increased expression:spinal cord (rat)	PMID:17284346|REF_RGD_ID:2313035
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:735562	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:61924	D	RGD:9068941	20200609	RGD		protein:altered expression:spinal cord (rat)	PMID:19246105|REF_RGD_ID:2313022
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:61924	D	RGD:9068941	20200609	RGD		protein:increased expression:right cerebral hemisphere (rat)	PMID:19447505|REF_RGD_ID:2313021
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:61924	D	RGD:9068941	20200609	RGD		protein:increased expression:Kupffer cell (rat)	PMID:16500929|REF_RGD_ID:2313040
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:735562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:9005372	Inflammation		ISO	RGD:61924	D	RGD:9068941	20200609	RGD		protein:increased expression:dentate gyrus (rat)	PMID:19020040|REF_RGD_ID:2313027
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:735562	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:61924	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord (rat)	PMID:15710454|REF_RGD_ID:2313042
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:9007727	Alcohol-Induced Disorders, Nervous System		ISO	RGD:61924	D	RGD:9068941	20200609	RGD		protein:increased expression:cortex, hippocampus (rat)	PMID:18585922|REF_RGD_ID:2313030
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:9007842	Sepsis-Associated Encephalopathy		ISO	RGD:61924	D	RGD:9068941	20250320	RGD		protein:decreased expression:corpus callosum	PMID:31622656|REF_RGD_ID:598092488
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:735562	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron:rs2259571 (human)	PMID:18987644|REF_RGD_ID:2313199
8743639	Aif1	allograft inflammatory factor 1	gene	DOID:9744	type 1 diabetes mellitus	onset	ISO	RGD:61924	D	RGD:9068941	20200609	RGD			PMID:9391121|REF_RGD_ID:2313043
8743649	Pcdh7	protocadherin 7	gene	DOID:1115	sarcoma		ISO	RGD:1346973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8743649	Pcdh7	protocadherin 7	gene	DOID:4362	cervical cancer		ISO	RGD:1346973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8743649	Pcdh7	protocadherin 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743649	Pcdh7	protocadherin 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8743649	Pcdh7	protocadherin 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8743684	Znf575	zinc finger protein 575	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743684	Znf575	zinc finger protein 575	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8743684	Znf575	zinc finger protein 575	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8743696	Lrrc4b	leucine rich repeat containing 4B	gene	DOID:1324	lung cancer		ISO	RGD:1316128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8743696	Lrrc4b	leucine rich repeat containing 4B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8743704	Capn11	calpain 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8743704	Capn11	calpain 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8743704	Capn11	calpain 11	gene	DOID:10534	stomach cancer		ISO	RGD:1342957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8743704	Capn11	calpain 11	gene	DOID:2394	ovarian cancer		ISO	RGD:1342957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8743704	Capn11	calpain 11	gene	DOID:4362	cervical cancer		ISO	RGD:1342957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8743704	Capn11	calpain 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8743704	Capn11	calpain 11	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8743704	Capn11	calpain 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8743704	Capn11	calpain 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8743752	Kazald1	Kazal type serine peptidase inhibitor domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8743752	Kazald1	Kazal type serine peptidase inhibitor domain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8743752	Kazald1	Kazal type serine peptidase inhibitor domain 1	gene	DOID:3275	thymoma		ISO	RGD:1321754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8743752	Kazald1	Kazal type serine peptidase inhibitor domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8743771	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8743771	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8743771	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:1115	sarcoma		ISO	RGD:1320187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8743771	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:1324	lung cancer		ISO	RGD:1320187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8743771	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8743771	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8743771	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:5041	esophageal cancer		ISO	RGD:1320187	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8743771	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743771	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:6039	uveal melanoma		ISO	RGD:1320187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8743771	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8743771	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8743771	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:9007661	Dwarfism		ISO	RGD:1320187	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
8743771	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8743813	Rpl29	ribosomal protein L29	gene	DOID:0060058	lymphoma		ISO	RGD:737093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8743813	Rpl29	ribosomal protein L29	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8743813	Rpl29	ribosomal protein L29	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8743813	Rpl29	ribosomal protein L29	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743829	Mcrip1	MAPK regulated corepressor interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8743829	Mcrip1	MAPK regulated corepressor interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1603840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8743829	Mcrip1	MAPK regulated corepressor interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743853	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8743853	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8743853	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:10534	stomach cancer		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8743853	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8743853	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:1115	sarcoma		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8743853	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:1909	melanoma		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8743853	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1321381	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822268
8743853	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:3275	thymoma		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8743853	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8743853	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8743853	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1321381	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8743853	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8743853	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743853	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:769	neuroblastoma		ISO	RGD:1321381	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18577749
8743853	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:7788	adult spinal cord ependymoma		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adult spinal cord ependymoma	
8743853	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1321381	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
8743853	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8743853	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8743853	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8743906	Tmem198	transmembrane protein 198	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8743906	Tmem198	transmembrane protein 198	gene	DOID:10534	stomach cancer		ISO	RGD:1605296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8743906	Tmem198	transmembrane protein 198	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1605296	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:0014667	disease of metabolism		ISO	RGD:736560	D	RGD:9068941	20200609	RGD		familial hypercholanemia,OMIM:607748;DNA:point mutations:promoter, intron	PMID:12878321|REF_RGD_ID:1601066
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736560	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:0060058	lymphoma		ISO	RGD:736560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11406608
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:736560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11406608
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:11406608|REF_RGD_ID:1601063
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:0061181	familial hypercholanemia 1		ISO	RGD:736560	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypercholanemia, familial 1	PMID:25741868
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:0080001	bone disease		ISO	RGD:736560	D	RGD:9068941	20200609	RGD		associated with Multiple Myeloma;DNA:SNP	PMID:19657367|REF_RGD_ID:11252112
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:10320	asbestosis	susceptibility	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:p.Y113H (rs1051740) (human)	PMID:17159790|REF_RGD_ID:4889408
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:736560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11283205|PMID:12173035
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:11283205|REF_RGD_ID:1601064
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736560	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus	PMID:16630050|REF_RGD_ID:5688388
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:SNPs	PMID:19252927|REF_RGD_ID:2315930
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:12449	aplastic anemia	disease_progression	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)	PMID:26999617|REF_RGD_ID:11252120
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:12449	aplastic anemia	susceptibility	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.H139R (human)	PMID:21228718|REF_RGD_ID:11252118
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:1324	lung cancer		ISO	RGD:736560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.Y113H (human)	PMID:10720475|REF_RGD_ID:5490167
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:14330	Parkinson's disease	no_association	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:missense mutations:exons:p.Y113H (499T>C), p.H139R (578A>G) (human)	PMID:11692079|REF_RGD_ID:5688390
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:1579	respiratory system disease		ISO	RGD:736560	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis	PMID:14593914|REF_RGD_ID:4889126
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:736560	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:16697254
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:1909	melanoma		ISO	RGD:736560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:2355	anemia	treatment	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		associated with Ovarian Neoplasms	PMID:24533712|REF_RGD_ID:11097078
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human)	PMID:17711870|REF_RGD_ID:4889407
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:305	carcinoma		ISO	RGD:736560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:736560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9288046
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:9288046|REF_RGD_ID:1601065
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:3083	chronic obstructive pulmonary disease	no_association	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:p.H139R (rs2234922) (human)	PMID:20932192|REF_RGD_ID:4889120
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:3083	chronic obstructive pulmonary disease	no_association	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple (human)	PMID:18614560|REF_RGD_ID:4889122
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:3083	chronic obstructive pulmonary disease	no_association	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human)	PMID:17564249|REF_RGD_ID:4889123
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human)	PMID:18811882|REF_RGD_ID:4889121
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:3602	toxic encephalopathy	susceptibility	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.H139R (human)	PMID:17022435|REF_RGD_ID:5490249
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:736560	D	RGD:9068941	20200609	RGD			PMID:17273734|REF_RGD_ID:4889124
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:5022	aflatoxins-related hepatocellular carcinoma		ISO	RGD:2557	D	RGD:9068941	20220707	RGD		associated with estrogen excess;protein:increased activity;liver (rat)	PMID:6133380|REF_RGD_ID:152998935
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736560	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:670	amphetamine abuse		ISO	RGD:736560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19598248
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7892276
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:705	Leber hereditary optic neuropathy	onset	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.Y113H (human)	PMID:15838728|REF_RGD_ID:5688732
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:811	lipodystrophy		ISO	RGD:736560	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary lipodystrophy	PMID:25741868|PMID:34342583
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:736560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9000972	Fever		ISO	RGD:736560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:31422080
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:2557	D	RGD:9068941	20200609	RGD			PMID:7260898|REF_RGD_ID:11252158
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17919073|PMID:21716162|PMID:24763052
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:736560	D	RGD:9068941	20200609	RGD			PMID:16697254|REF_RGD_ID:4889125
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:736560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26295053
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:736560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26840748
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:736560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17114358|PMID:17311802
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:736560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:736560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22156006
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:736560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29298899
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9007118	Familial Hypercholanemia		ISO	RGD:736560	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:12878321
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9007828	Abnormalities, Drug-Induced		ISO	RGD:736560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2336087
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29605894
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:missense mutations:exon:p.Y113H, p.H139R (human)	PMID:11849215|REF_RGD_ID:11252119
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9119	acute myeloid leukemia	no_association	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon:rs1051740, rs2234922 (human)	PMID:22200898|REF_RGD_ID:11252114
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9119	acute myeloid leukemia	no_association	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:20731606|REF_RGD_ID:11252115
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9538	multiple myeloma		ISO	RGD:736560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16949155
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9538	multiple myeloma	no_association	ISO	RGD:736560	D	RGD:9068941	20200609	RGD			PMID:19736056|REF_RGD_ID:11252116
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9538	multiple myeloma	no_association	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:rs2234922 (human)	PMID:24521996|REF_RGD_ID:11252122
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9538	multiple myeloma	susceptibility	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)	PMID:16949155|REF_RGD_ID:11252121
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9675	pulmonary emphysema		ISO	RGD:736560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9288046
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9675	pulmonary emphysema		ISO	RGD:736560	D	RGD:9068941	20200609	RGD			PMID:12579334|REF_RGD_ID:4889405
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9675	pulmonary emphysema		ISO	RGD:736560	D	RGD:9068941	20200609	RGD		associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs (human)	PMID:20525719|REF_RGD_ID:4140935
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9675	pulmonary emphysema	no_association	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human)	PMID:10853854|REF_RGD_ID:4889406
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9675	pulmonary emphysema	susceptibility	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:p.Y113H (rs1051740) (human)	PMID:9288046|REF_RGD_ID:1601065
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:736560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21983886
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9952	acute lymphoblastic leukemia	no_association	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon:rs1051740, rs2234922 (human)	PMID:22200898|REF_RGD_ID:11252114
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9952	acute lymphoblastic leukemia	no_association	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:missense mutation, haplotype:exon:p.H139R (human)	PMID:21983886|REF_RGD_ID:11252110
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9952	acute lymphoblastic leukemia	susceptibility	ISO	RGD:736560	D	RGD:9068941	20200609	RGD			PMID:19593802|REF_RGD_ID:11252111
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9952	acute lymphoblastic leukemia	susceptibility	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:missense mutation, haplotype:exon:p.Y113H (human)	PMID:21983886|REF_RGD_ID:11252110
8743980	Ephx1	epoxide hydrolase 1	gene	DOID:9952	acute lymphoblastic leukemia	susceptibility	ISO	RGD:736560	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:exon	PMID:22930568|REF_RGD_ID:11252113
8744026	Lvrn	laeverin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8744026	Lvrn	laeverin	gene	DOID:10534	stomach cancer		ISO	RGD:1604505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8744026	Lvrn	laeverin	gene	DOID:1115	sarcoma		ISO	RGD:1604505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8744026	Lvrn	laeverin	gene	DOID:1324	lung cancer		ISO	RGD:1604505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8744026	Lvrn	laeverin	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8744026	Lvrn	laeverin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8744026	Lvrn	laeverin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8744052	Zcchc17	zinc finger CCHC-type containing 17	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8744052	Zcchc17	zinc finger CCHC-type containing 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8744052	Zcchc17	zinc finger CCHC-type containing 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8744052	Zcchc17	zinc finger CCHC-type containing 17	gene	DOID:1909	melanoma		ISO	RGD:1604815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8744052	Zcchc17	zinc finger CCHC-type containing 17	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8744052	Zcchc17	zinc finger CCHC-type containing 17	gene	DOID:2394	ovarian cancer		ISO	RGD:1604815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8744052	Zcchc17	zinc finger CCHC-type containing 17	gene	DOID:3275	thymoma		ISO	RGD:1604815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8744052	Zcchc17	zinc finger CCHC-type containing 17	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8744076	Klhl31	kelch like family member 31	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8744076	Klhl31	kelch like family member 31	gene	DOID:14717	centronuclear myopathy		ISO	RGD:1619800	D	RGD:9068941	20220825	MouseDO		OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959	
8744076	Klhl31	kelch like family member 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8744076	Klhl31	kelch like family member 31	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8744085	Lrrc40	leucine rich repeat containing 40	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8744085	Lrrc40	leucine rich repeat containing 40	gene	DOID:0060058	lymphoma		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8744085	Lrrc40	leucine rich repeat containing 40	gene	DOID:10534	stomach cancer		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8744085	Lrrc40	leucine rich repeat containing 40	gene	DOID:1115	sarcoma		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8744085	Lrrc40	leucine rich repeat containing 40	gene	DOID:12849	autistic disorder		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:33749153
8744085	Lrrc40	leucine rich repeat containing 40	gene	DOID:1324	lung cancer		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8744085	Lrrc40	leucine rich repeat containing 40	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8744085	Lrrc40	leucine rich repeat containing 40	gene	DOID:4362	cervical cancer		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8744085	Lrrc40	leucine rich repeat containing 40	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8744085	Lrrc40	leucine rich repeat containing 40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8744085	Lrrc40	leucine rich repeat containing 40	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8744085	Lrrc40	leucine rich repeat containing 40	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8744085	Lrrc40	leucine rich repeat containing 40	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8744085	Lrrc40	leucine rich repeat containing 40	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8744107	Rasl12	RAS like family 12	gene	DOID:1324	lung cancer		ISO	RGD:1314790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8744107	Rasl12	RAS like family 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8744143	Zw10	zw10 kinetochore protein	gene	DOID:1324	lung cancer		ISO	RGD:1319405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8744143	Zw10	zw10 kinetochore protein	gene	DOID:3347	osteosarcoma		ISO	RGD:1319405	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14767549
8744143	Zw10	zw10 kinetochore protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8744143	Zw10	zw10 kinetochore protein	gene	DOID:4362	cervical cancer		ISO	RGD:1319405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8744143	Zw10	zw10 kinetochore protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8744143	Zw10	zw10 kinetochore protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8744143	Zw10	zw10 kinetochore protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8744143	Zw10	zw10 kinetochore protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0050591	tooth agenesis		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypodontia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:736657	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:10363917|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15596469|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26073431|PMID:26138355|PMID:26148514|PMID:26446091|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27054081|PMID:27334371|PMID:27441201|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28602030|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30478917|PMID:30776697|PMID:30866059|PMID:30945278|PMID:30977854|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31780880|PMID:32165824|PMID:32179837|PMID:32362866|PMID:32488064|PMID:32581362|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:736657	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy	PMID:10482260|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25052858|PMID:25326635|PMID:25533962|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26073431|PMID:26138355|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:28133863|PMID:28399683|PMID:28492532|PMID:28503627|PMID:28687180|PMID:28717674|PMID:28867141|PMID:28940419|PMID:29056246|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29383681|PMID:29390993|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29933521|PMID:30126342|PMID:30185235|PMID:30866059|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31418850|PMID:32165824|PMID:32179837|PMID:32362866|PMID:32488064|PMID:32581362|PMID:32860008|PMID:32917465|PMID:3360469|PMID:33659638|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9536098|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:736657	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy	PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30866059|PMID:30977854|PMID:31019026|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:33333793|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34354098|PMID:34395220|PMID:34489640|PMID:34711204|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:736657	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:10363917|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23453664|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:23959892|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25607374|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28602030|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30459225|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30866059|PMID:30977854|PMID:31019026|PMID:31069529|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31302675|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:32942014|PMID:33333793|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34354098|PMID:34395220|PMID:34489640|PMID:34711204|PMID:35104249|PMID:35468861|PMID:35557555|PMID:35770094|PMID:35906921|PMID:36539902|PMID:36849527|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:25741868|PMID:28492532
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:23934111|PMID:25741868|PMID:27479843|PMID:31105003
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0050843	oromandibular dystonia		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oromandibular dystonia	PMID:28492532
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736657	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0060249	scoliosis		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:12742592|PMID:25741868|PMID:25959266|PMID:26070303|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:736657	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autosomal dominant epilepsy	
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0070445	early-onset dystonia and/or spastic paraplegia		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia	PMID:28492532
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:736657	D	RGD:8554872	20240625	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:11175290|PMID:11572947|PMID:11784811|PMID:12754513|PMID:14534157|PMID:14985406|PMID:16039833|PMID:17129708|PMID:17475800|PMID:17872363|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19344764|PMID:19380078|PMID:19453707|PMID:20437616|PMID:21685056|PMID:22169383|PMID:22275249|PMID:22455920|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25590979|PMID:25740509|PMID:25741868|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26704558|PMID:26993267|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28492532|PMID:28628100|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29390993|PMID:29455050|PMID:29588952|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29760947|PMID:29852413|PMID:30109124|PMID:30126342|PMID:30478917|PMID:31019026|PMID:31152295|PMID:31199083|PMID:31780880|PMID:31832524|PMID:32139178|PMID:32184343|PMID:32573669|PMID:32581362|PMID:32712949|PMID:32860008|PMID:32917465|PMID:33754465|PMID:34055682|PMID:34120799|PMID:34711204|PMID:35104249|PMID:35906921|PMID:4055306|PMID:9425895|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:736657	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11	PMID:11175290|PMID:11572947|PMID:11784811|PMID:12754513|PMID:14534157|PMID:14985406|PMID:16039833|PMID:17129708|PMID:17475800|PMID:17872363|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19344764|PMID:19380078|PMID:19453707|PMID:20437616|PMID:21685056|PMID:22169383|PMID:22275249|PMID:22455920|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25590979|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26704558|PMID:26993267|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28492532|PMID:28628100|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29390993|PMID:29455050|PMID:29588952|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29760947|PMID:29852413|PMID:30109124|PMID:30126342|PMID:30478917|PMID:31019026|PMID:31152295|PMID:31199083|PMID:31780880|PMID:31832524|PMID:32139178|PMID:32184343|PMID:32573669|PMID:32581362|PMID:32712949|PMID:32860008|PMID:32917465|PMID:33754465|PMID:34055682|PMID:34120799|PMID:34711204|PMID:35104249|PMID:35906921|PMID:4055306|PMID:9425895|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:736657	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11	PMID:11175290|PMID:11572947|PMID:11784811|PMID:12754513|PMID:14534157|PMID:14985406|PMID:16039833|PMID:17129708|PMID:17475800|PMID:17872363|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19344764|PMID:19380078|PMID:19453707|PMID:20437616|PMID:21685056|PMID:21937445|PMID:22169383|PMID:22275249|PMID:22455920|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25590979|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26704558|PMID:26993267|PMID:2753503|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28492532|PMID:28628100|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29390993|PMID:29455050|PMID:29588952|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29760947|PMID:29852413|PMID:30109124|PMID:30126342|PMID:30478917|PMID:30776697|PMID:31019026|PMID:31152295|PMID:31199083|PMID:31418850|PMID:31780880|PMID:31832524|PMID:32139178|PMID:32165824|PMID:32179837|PMID:32184343|PMID:32573669|PMID:32581362|PMID:32712949|PMID:32860008|PMID:32917465|PMID:33336127|PMID:33754465|PMID:34055682|PMID:34120799|PMID:34711204|PMID:35104249|PMID:35642783|PMID:35906921|PMID:39825153|PMID:4055306|PMID:9425895|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: complex neurodevelopmental disorder	PMID:14534157|PMID:17129708|PMID:18414213|PMID:18483067|PMID:19380078|PMID:19453707|PMID:21685056|PMID:23621294|PMID:23692823|PMID:23934111|PMID:24375629|PMID:24586341|PMID:25052858|PMID:25741868|PMID:25819767|PMID:25880994|PMID:25959266|PMID:26007637|PMID:26138355|PMID:26467025|PMID:26704558|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27905566|PMID:28038823|PMID:28399683|PMID:28492532|PMID:28686619|PMID:28717674|PMID:29263209|PMID:29655203|PMID:30558019|PMID:31152295|PMID:31180159|PMID:34426522|PMID:35104249|PMID:9425895|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:736657	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures | ClinVar Annotator: match by term: complex neurodevelopmental disorder	PMID:11690625|PMID:14534157|PMID:14985406|PMID:16039833|PMID:17129708|PMID:18414213|PMID:18483067|PMID:19380078|PMID:19453707|PMID:20119593|PMID:20437616|PMID:21685056|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23934111|PMID:24375629|PMID:24586341|PMID:25052858|PMID:25262651|PMID:25741868|PMID:25819767|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26467025|PMID:26704558|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27864847|PMID:27905566|PMID:28038823|PMID:28133863|PMID:28399683|PMID:28492532|PMID:28686619|PMID:28717674|PMID:28973083|PMID:29186148|PMID:29263209|PMID:29655203|PMID:30558019|PMID:31152295|PMID:31180159|PMID:31418850|PMID:31440721|PMID:33057194|PMID:33528536|PMID:3360469|PMID:33726816|PMID:34426522|PMID:35104249|PMID:35982159|PMID:36403551|PMID:9425895|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures | ClinVar Annotator: match by term: complex neurodevelopmental disorder	PMID:11175290|PMID:11690625|PMID:11784811|PMID:14534157|PMID:14985406|PMID:17129708|PMID:17675531|PMID:18414213|PMID:18483067|PMID:19380078|PMID:19453707|PMID:20119593|PMID:20437616|PMID:21685056|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24375629|PMID:24586341|PMID:25052858|PMID:25262651|PMID:25740509|PMID:25741868|PMID:25819767|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26467025|PMID:26704558|PMID:26993267|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27864847|PMID:27905566|PMID:28038823|PMID:28133863|PMID:28139826|PMID:28399683|PMID:28492532|PMID:28686619|PMID:28687180|PMID:28717674|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29263209|PMID:29655203|PMID:30558019|PMID:31152295|PMID:31180159|PMID:31418850|PMID:31440721|PMID:33057194|PMID:33528536|PMID:3360469|PMID:33726816|PMID:34426522|PMID:35104249|PMID:35642783|PMID:35982159|PMID:36403551|PMID:9425895|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0080462	developmental and epileptic encephalopathy 7		ISO	RGD:736657	D	RGD:7240710	20180130	OMIM			
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0080462	developmental and epileptic encephalopathy 7		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 7 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 7 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 7 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 7 | ClinVar Annotator: match by term: KCNQ2-Related Neonatal Epileptic Encephalopathy	PMID:10482260|PMID:11572947|PMID:11690625|PMID:12742592|PMID:12754513|PMID:14534157|PMID:14985406|PMID:16199547|PMID:16691402|PMID:16916607|PMID:17129708|PMID:17435769|PMID:17576681|PMID:17675531|PMID:18353052|PMID:18414213|PMID:18483067|PMID:19453707|PMID:19559753|PMID:20119593|PMID:20437616|PMID:21937445|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23291709|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24586341|PMID:24848745|PMID:25052858|PMID:25092550|PMID:25262651|PMID:25473036|PMID:25533962|PMID:25566516|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26993267|PMID:27479843|PMID:27535030|PMID:27602407|PMID:27734276|PMID:27779742|PMID:27864847|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28492532|PMID:28503627|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28867141|PMID:28926830|PMID:28973083|PMID:29056246|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29314583|PMID:29314763|PMID:29644095|PMID:29655203|PMID:29726930|PMID:29933521|PMID:30174244|PMID:30182498|PMID:30440138|PMID:30478917|PMID:30552426|PMID:30776697|PMID:31105003|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31564432|PMID:31780880|PMID:32139178|PMID:32179837|PMID:32532640|PMID:32585800|PMID:32712949|PMID:32770121|PMID:32863083|PMID:32917465|PMID:32942014|PMID:33333793|PMID:3360469|PMID:33659638|PMID:33726816|PMID:33860439|PMID:34015165|PMID:34120799|PMID:34580403|PMID:34711204|PMID:35269516|PMID:35377796|PMID:35468861|PMID:35557555|PMID:35770094|PMID:35856407|PMID:36801247|PMID:36849527|PMID:38221827|PMID:38241158|PMID:39814994|PMID:39832895|PMID:9425895|PMID:9430594|PMID:9536098|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:736657	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1	PMID:25741868|PMID:28492532
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:12742592|PMID:25741868|PMID:25959266|PMID:26070303|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:736657	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:10482260|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25052858|PMID:25326635|PMID:25533962|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26073431|PMID:26138355|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:28133863|PMID:28399683|PMID:28492532|PMID:28503627|PMID:28687180|PMID:28717674|PMID:28867141|PMID:28940419|PMID:29056246|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29383681|PMID:29390993|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29933521|PMID:30126342|PMID:30185235|PMID:30866059|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31418850|PMID:32165824|PMID:32179837|PMID:32362866|PMID:32488064|PMID:32581362|PMID:32860008|PMID:32917465|PMID:3360469|PMID:33659638|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9536098|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:736657	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy	PMID:10363917|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15030501|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16686649|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23453664|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23797855|PMID:23849776|PMID:23934111|PMID:23959892|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24848745|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25607374|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27054081|PMID:27334371|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28602030|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28837158|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29588952|PMID:29644095|PMID:29655203|PMID:29694806|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30459225|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30866059|PMID:30945278|PMID:30977854|PMID:31019026|PMID:31069529|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31302675|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31564432|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:32942014|PMID:33333793|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33860439|PMID:33897753|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34136434|PMID:34354098|PMID:34395220|PMID:34489640|PMID:34711204|PMID:35104249|PMID:35377796|PMID:35468861|PMID:35557555|PMID:35701389|PMID:35770094|PMID:35906921|PMID:36539902|PMID:36849527|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:736657	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:10363917|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15030501|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16686649|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23453664|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23797855|PMID:23849776|PMID:23934111|PMID:23959892|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24848745|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25607374|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27054081|PMID:27334371|PMID:2753503|PMID:27535030|PMID:27564677|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:27989324|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28602030|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28837158|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29588952|PMID:29644095|PMID:29655203|PMID:29694806|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30459225|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30866059|PMID:30945278|PMID:30977854|PMID:31019026|PMID:31069529|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31302675|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31564432|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:32942014|PMID:33333793|PMID:33336127|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33860439|PMID:33897753|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34136434|PMID:34354098|PMID:34395220|PMID:34474328|PMID:34489640|PMID:34711204|PMID:35104249|PMID:35377796|PMID:35401395|PMID:35468861|PMID:35557555|PMID:35627257|PMID:35642783|PMID:35701389|PMID:35770094|PMID:35906921|PMID:36380967|PMID:36539902|PMID:36849527|PMID:37593999|PMID:38074073|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:736657	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy	PMID:10363917|PMID:10482260|PMID:10684873|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15030501|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16686649|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23453664|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23797855|PMID:23849776|PMID:23934111|PMID:23959892|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24848745|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25607374|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27054081|PMID:27334371|PMID:2753503|PMID:27535030|PMID:27564677|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28602030|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28837158|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29588952|PMID:29644095|PMID:29655203|PMID:29694806|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30459225|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30866059|PMID:30945278|PMID:30977854|PMID:31019026|PMID:31069529|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31302675|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31564432|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:32942014|PMID:33098118|PMID:33333793|PMID:33336127|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33811133|PMID:33860439|PMID:33897753|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34136434|PMID:34354098|PMID:34395220|PMID:34474328|PMID:34489640|PMID:34711204|PMID:35104249|PMID:35377796|PMID:35401395|PMID:35468861|PMID:35557555|PMID:35571021|PMID:35627257|PMID:35642783|PMID:35701389|PMID:35770094|PMID:35813072|PMID:35906921|PMID:36380967|PMID:36403551|PMID:36539902|PMID:36849527|PMID:37593999|PMID:38074073|PMID:38160512|PMID:39825153|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9836639|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:736657	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy	PMID:10363917|PMID:10482260|PMID:10684873|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15030501|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16686649|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17053194|PMID:17129708|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:20119593|PMID:20437616|PMID:21685056|PMID:21937445|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23797855|PMID:23849776|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24848745|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27334371|PMID:2753503|PMID:27535030|PMID:27564677|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28602030|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28837158|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29588952|PMID:29644095|PMID:29655203|PMID:29694806|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30459225|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30945278|PMID:30977854|PMID:31019026|PMID:31069529|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31302675|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31564432|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:32942014|PMID:33098118|PMID:33333793|PMID:33336127|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33811133|PMID:33860439|PMID:33897753|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34136434|PMID:34354098|PMID:34395220|PMID:34474328|PMID:34489640|PMID:34711204|PMID:35104249|PMID:35377796|PMID:35401395|PMID:35468861|PMID:35557555|PMID:35571021|PMID:35627257|PMID:35642783|PMID:35701389|PMID:35770094|PMID:35813072|PMID:35906921|PMID:36380967|PMID:36403551|PMID:36539902|PMID:36849527|PMID:37593999|PMID:38074073|PMID:38160512|PMID:39825153|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9836639|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:14534157|PMID:16199547|PMID:17576681|PMID:17675531|PMID:19559753|PMID:23360469|PMID:23692823|PMID:24375629|PMID:25533962|PMID:25640679|PMID:25880994|PMID:25951140|PMID:25959266|PMID:25982755|PMID:26758118|PMID:27535030|PMID:27779742|PMID:28399683|PMID:28492532|PMID:28867141|PMID:28940419|PMID:29056246|PMID:29215089|PMID:29314763|PMID:29655203|PMID:31199083|PMID:31302675|PMID:31418850|PMID:32179837|PMID:32488064|PMID:32712949|PMID:9425895|PMID:9536098
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:10376	amblyopia		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:23934111|PMID:25741868|PMID:27479843|PMID:31105003
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1059	intellectual disability		ISO	RGD:736657	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities	PMID:22275249|PMID:22926866|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28139826|PMID:28492532|PMID:28602030|PMID:28628100|PMID:28867141|PMID:29190809|PMID:30185235|PMID:32362866|PMID:32860008|PMID:34354098|PMID:34395220
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1059	intellectual disability		ISO	RGD:736657	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual deficiency	PMID:22275249|PMID:22926866|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28139826|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29190809|PMID:30185235|PMID:32362866|PMID:32860008|PMID:33754465|PMID:34354098|PMID:34395220
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1059	intellectual disability		ISO	RGD:736657	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities	PMID:22275249|PMID:22926866|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28139826|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29190809|PMID:30185235|PMID:32362866|PMID:32860008|PMID:33754465|PMID:34354098|PMID:34395220|PMID:35104249
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1059	intellectual disability		ISO	RGD:736657	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities	PMID:22275249|PMID:22926866|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28139826|PMID:28492532|PMID:28602030|PMID:28628100|PMID:28867141|PMID:29190809|PMID:30185235|PMID:32362866|PMID:32860008|PMID:33754465|PMID:34354098|PMID:34395220|PMID:35104249
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1059	intellectual disability		ISO	RGD:736657	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities	PMID:20437616|PMID:21937445|PMID:22275249|PMID:22926866|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27989324|PMID:28139826|PMID:28492532|PMID:28602030|PMID:28628100|PMID:28867141|PMID:29190809|PMID:30185235|PMID:31418850|PMID:32362866|PMID:32860008|PMID:33754465|PMID:34354098|PMID:34395220|PMID:35104249|PMID:35701389
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1059	intellectual disability		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:25818041|PMID:27535030|PMID:28492532|PMID:28602030|PMID:29215089|PMID:35701389
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1068	juvenile glaucoma		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glaucoma of childhood	PMID:25741868
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:10907	microcephaly		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:23934111|PMID:25741868|PMID:27479843|PMID:31105003
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1115	sarcoma		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:11162	respiratory failure		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:23708187|PMID:24107868|PMID:25740509|PMID:25741868|PMID:25880994|PMID:26993267|PMID:27535030|PMID:28133863|PMID:28139826|PMID:28492532|PMID:28687180|PMID:29190809
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:11782	astigmatism		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:14534157|PMID:17576681|PMID:18483067|PMID:19453707|PMID:24375629|PMID:24586341|PMID:25741868|PMID:25959266|PMID:26138355|PMID:26704558|PMID:27535030|PMID:28492532|PMID:28717674|PMID:29263209|PMID:31152295|PMID:9425895|PMID:9536098|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:11830	myopia		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:11832	visual epilepsy		ISO	RGD:736657	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602407
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:27535030|PMID:28492532|PMID:29215089
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:12215	oligohydramnios		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868|PMID:28492532
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:12849	autistic disorder		ISO	RGD:736657	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25533962|PMID:25741868|PMID:28492532|PMID:28867141
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:12849	autistic disorder		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:27535030|PMID:28492532|PMID:29215089|PMID:34711204|PMID:35557555|PMID:36801247
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:13714	anodontia		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypodontia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:14534157|PMID:18483067|PMID:19453707|PMID:24375629|PMID:24586341|PMID:25741868|PMID:25959266|PMID:26138355|PMID:26704558|PMID:27535030|PMID:28492532|PMID:28717674|PMID:29263209|PMID:31152295|PMID:9425895|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:14264	benign neonatal seizures		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Benign neonatal seizures | ClinVar Annotator: match by term: Neonatal seizure	PMID:14534157|PMID:18483067|PMID:18625963|PMID:19453707|PMID:19464834|PMID:24375629|PMID:24586341|PMID:25741868|PMID:25959266|PMID:25982755|PMID:26138355|PMID:26704558|PMID:27535030|PMID:28492532|PMID:28717674|PMID:29263209|PMID:31152295|PMID:9425895|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:736657	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:14534157|PMID:18483067|PMID:19453707|PMID:24375629|PMID:24586341|PMID:25741868|PMID:25959266|PMID:26138355|PMID:26704558|PMID:27535030|PMID:28492532|PMID:28717674|PMID:29263209|PMID:31152295|PMID:9425895|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1682	congenital heart disease		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: congenital heart defects	PMID:25741868
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1824	status epilepticus		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:12742592|PMID:25741868|PMID:25959266|PMID:26070303|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1826	epilepsy		ISO	RGD:736657	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17475800|PMID:18414213|PMID:18483067|PMID:19380078|PMID:19453707|PMID:20119593|PMID:21685056|PMID:22013194|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:24107868|PMID:24375629|PMID:24586341|PMID:24904429|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26467025|PMID:26704558|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28399683|PMID:28492532|PMID:28717674|PMID:28867141|PMID:29056246|PMID:29263209|PMID:29383681|PMID:29655203|PMID:29720203|PMID:30185235|PMID:31152295|PMID:31199083|PMID:32362866|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1826	epilepsy		ISO	RGD:736657	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17475800|PMID:18414213|PMID:18483067|PMID:19380078|PMID:19453707|PMID:20119593|PMID:21685056|PMID:22013194|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:24107868|PMID:24375629|PMID:24586341|PMID:24904429|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26467025|PMID:26704558|PMID:26795593|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28399683|PMID:28492532|PMID:28717674|PMID:28867141|PMID:29056246|PMID:29263209|PMID:29383681|PMID:29655203|PMID:29720203|PMID:30185235|PMID:31152295|PMID:31199083|PMID:32362866|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1826	epilepsy		ISO	RGD:736657	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17475800|PMID:18414213|PMID:18483067|PMID:19380078|PMID:19453707|PMID:20119593|PMID:20437616|PMID:21685056|PMID:22013194|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:24107868|PMID:24318194|PMID:24375629|PMID:24586341|PMID:24904429|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26467025|PMID:26704558|PMID:26795593|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28399683|PMID:28492532|PMID:28717674|PMID:28867141|PMID:29056246|PMID:29263209|PMID:29383681|PMID:29655203|PMID:29720203|PMID:30185235|PMID:31152295|PMID:31199083|PMID:32362866|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1826	epilepsy		ISO	RGD:736657	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17576681|PMID:20119593|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23934111|PMID:24107868|PMID:24318194|PMID:25052858|PMID:25533962|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26795593|PMID:26993267|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27905566|PMID:28133863|PMID:28492532|PMID:28867141|PMID:29056246|PMID:29655203|PMID:29720203|PMID:30185235|PMID:32362866|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:34711204|PMID:35104249|PMID:9536098
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1826	epilepsy		ISO	RGD:736657	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17576681|PMID:20119593|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23934111|PMID:24107868|PMID:24318194|PMID:25052858|PMID:25533962|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26795593|PMID:26993267|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27905566|PMID:28133863|PMID:28492532|PMID:28867141|PMID:29056246|PMID:29655203|PMID:29720203|PMID:30185235|PMID:31552204|PMID:32362866|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:34711204|PMID:35104249|PMID:9536098
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1826	epilepsy		ISO	RGD:736657	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17576681|PMID:20119593|PMID:20437616|PMID:21937445|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23934111|PMID:24107868|PMID:24318194|PMID:25052858|PMID:25533962|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26795593|PMID:26993267|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27905566|PMID:28133863|PMID:28492532|PMID:28867141|PMID:29056246|PMID:29655203|PMID:29720203|PMID:30185235|PMID:31199083|PMID:31418850|PMID:31552204|PMID:32362866|PMID:32860008|PMID:33098118|PMID:3360469|PMID:33754465|PMID:34354098|PMID:34395220|PMID:34711204|PMID:35104249|PMID:9536098
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1826	epilepsy		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizures	PMID:11690625|PMID:12742592|PMID:14534157|PMID:14985406|PMID:16039833|PMID:17129708|PMID:17576681|PMID:20119593|PMID:20437616|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23934111|PMID:24318194|PMID:24848745|PMID:25052858|PMID:25326635|PMID:25741868|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26070303|PMID:26795593|PMID:26993267|PMID:27479843|PMID:27535030|PMID:27564677|PMID:27602407|PMID:27779742|PMID:27864847|PMID:27905566|PMID:28133863|PMID:28492532|PMID:28503627|PMID:28717674|PMID:29158550|PMID:29215089|PMID:29314763|PMID:29455050|PMID:29655203|PMID:30126342|PMID:30185235|PMID:30552426|PMID:31105003|PMID:31199083|PMID:31418850|PMID:32005694|PMID:32362866|PMID:32532640|PMID:32770121|PMID:33098118|PMID:33333793|PMID:3360469|PMID:33860439|PMID:34354098|PMID:34395220|PMID:34474328|PMID:35104249|PMID:35377796|PMID:35401395|PMID:37593999|PMID:38074073|PMID:39825153|PMID:9536098
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1826	epilepsy		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizure | ClinVar Annotator: match by term: seizures	PMID:11690625|PMID:12742592|PMID:14534157|PMID:14985406|PMID:16039833|PMID:17129708|PMID:17576681|PMID:17675531|PMID:20119593|PMID:20437616|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24848745|PMID:25052858|PMID:25740509|PMID:25741868|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26070303|PMID:26795593|PMID:26993267|PMID:27479843|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27864847|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28492532|PMID:28503627|PMID:28687180|PMID:29158550|PMID:29190809|PMID:2921508|PMID:29215089|PMID:29314763|PMID:29655203|PMID:30008368|PMID:30126342|PMID:30185235|PMID:30552426|PMID:31105003|PMID:31199083|PMID:31418850|PMID:32005694|PMID:32362866|PMID:32532640|PMID:32593896|PMID:32770121|PMID:33098118|PMID:33333793|PMID:3360469|PMID:33860439|PMID:34354098|PMID:34395220|PMID:35377796|PMID:39003674|PMID:9536098
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:736657	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:17129708|PMID:20437616|PMID:23621294|PMID:23692823|PMID:23934111|PMID:24848745|PMID:25052858|PMID:25262651|PMID:25741868|PMID:25880994|PMID:25959266|PMID:26007637|PMID:27535030|PMID:27602407|PMID:27864847|PMID:27905566|PMID:28133863|PMID:28492532|PMID:28973083|PMID:29186148|PMID:29655203|PMID:31418850|PMID:31440721|PMID:32179837|PMID:32581362|PMID:33057194|PMID:33528536|PMID:33726816|PMID:33860439|PMID:35104249|PMID:35982159|PMID:36403551|PMID:37541188
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1969	cerebral palsy		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:17576681|PMID:25741868|PMID:28133863|PMID:28492532|PMID:35377796|PMID:9536098
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:2030	anxiety disorder		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532|PMID:34711204|PMID:35557555|PMID:36801247
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:2234	focal epilepsy		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:17129708|PMID:23621294|PMID:23692823|PMID:23934111|PMID:25052858|PMID:25741868|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:27479843|PMID:27535030|PMID:27602407|PMID:27905566|PMID:28492532|PMID:31105003|PMID:9425895
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:2340	craniosynostosis		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:28492532
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:255	hemangioma		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:23934111|PMID:25741868|PMID:27479843|PMID:31105003
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:2841	asthma		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532|PMID:34711204|PMID:35557555|PMID:36801247
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:3070	high grade glioma		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:3329	benign epilepsy with centrotemporal spikes		ISO	RGD:736657	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Benign Rolandic epilepsy	PMID:18625963
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:4667	kyphosis		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:12742592|PMID:25741868|PMID:25959266|PMID:26070303|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:480	movement disease		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:16916607|PMID:25741868|PMID:26544041|PMID:27602407|PMID:28492532
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:4989	pancreatitis		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pancreatitis	PMID:12742592|PMID:25741868|PMID:25959266|PMID:26070303|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:540	strabismus		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:543	dystonia		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:12742592|PMID:25741868|PMID:25959266|PMID:26070303|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:630	genetic disease		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10363917|PMID:10684873|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:14534157|PMID:14985406|PMID:17227916|PMID:17475800|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19380078|PMID:19453707|PMID:20119593|PMID:20437616|PMID:21685056|PMID:22275249|PMID:22455920|PMID:23360469|PMID:23440208|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24375629|PMID:24586341|PMID:25740509|PMID:25741868|PMID:25819767|PMID:25959266|PMID:25982755|PMID:26070303|PMID:26138355|PMID:26467025|PMID:26704558|PMID:26993267|PMID:27479843|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27888506|PMID:28038823|PMID:28133863|PMID:28283543|PMID:28399683|PMID:28492532|PMID:28686619|PMID:28717674|PMID:29056246|PMID:29261713|PMID:29263209|PMID:29314763|PMID:29655203|PMID:30552426|PMID:30558019|PMID:31105003|PMID:31152295|PMID:31164858|PMID:31180159|PMID:31199083|PMID:31418850|PMID:31628766|PMID:31780880|PMID:32770121|PMID:32917465|PMID:33333793|PMID:3360469|PMID:34426522|PMID:35104249|PMID:36035117|PMID:37405542|PMID:38241158|PMID:39814994|PMID:9425895|PMID:9836639|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:630	genetic disease		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10363917|PMID:10684873|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:14534157|PMID:14985406|PMID:17227916|PMID:17475800|PMID:17675531|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19380078|PMID:19453707|PMID:20119593|PMID:20437616|PMID:21685056|PMID:22275249|PMID:22455920|PMID:23360469|PMID:23440208|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24375629|PMID:24586341|PMID:25262651|PMID:25740509|PMID:25741868|PMID:25819767|PMID:25959266|PMID:25982755|PMID:26070303|PMID:26138355|PMID:26467025|PMID:26704558|PMID:26993267|PMID:27479843|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:28038823|PMID:28133863|PMID:28283543|PMID:28399683|PMID:28492532|PMID:28686619|PMID:28717674|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29263209|PMID:29314763|PMID:29655203|PMID:30440138|PMID:30552426|PMID:30558019|PMID:31105003|PMID:31152295|PMID:31164858|PMID:31180159|PMID:31199083|PMID:31418850|PMID:31440721|PMID:31440733|PMID:31512412|PMID:31628766|PMID:31780880|PMID:32139178|PMID:32712949|PMID:32770121|PMID:32917465|PMID:33057194|PMID:33333793|PMID:33528536|PMID:3360469|PMID:33659638|PMID:33726816|PMID:34426522|PMID:35104249|PMID:35982159|PMID:36035117|PMID:36403551|PMID:37405542|PMID:38241158|PMID:39814994|PMID:9425895|PMID:9836639|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:7998	hyperthyroidism		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532|PMID:34711204|PMID:35557555|PMID:36801247
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:12742592|PMID:25741868|PMID:25959266|PMID:26070303|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:863	nervous system disease		ISO	RGD:736657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20805988
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:8927	learning disability		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868|PMID:28492532
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:12742592|PMID:25741868|PMID:25959266|PMID:26070303|PMID:28133863|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793|PMID:35377796
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9000419	Benign Familial Neonatal Seizures, 1		ISO	RGD:736657	D	RGD:7240710	20180130	OMIM			
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9000419	Benign Familial Neonatal Seizures, 1		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Benign familial neonatal seizures 1 | ClinVar Annotator: match by term: EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA | ClinVar Annotator: match by term: KCNQ2-related condition | ClinVar Annotator: match by term: KCNQ2-related disorder | ClinVar Annotator: match by term: SEIZURES, BENIGN FAMILIAL NEONATAL, 1 | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1	PMID:10323247|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:14534157|PMID:14669214|PMID:14985406|PMID:15030501|PMID:15178210|PMID:15249611|PMID:15596769|PMID:16199547|PMID:16319223|PMID:16686649|PMID:16691402|PMID:16916607|PMID:17129708|PMID:17227916|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18006581|PMID:18246739|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19380078|PMID:19453707|PMID:19559753|PMID:19818940|PMID:20119593|PMID:20437616|PMID:21913284|PMID:21937445|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23290024|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23849776|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24375629|PMID:24586341|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25740509|PMID:25741868|PMID:25819767|PMID:25880994|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26993267|PMID:27479843|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28038823|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28492532|PMID:28686619|PMID:28687180|PMID:28717674|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29314763|PMID:29429461|PMID:29655203|PMID:29726930|PMID:29933521|PMID:30440138|PMID:30552426|PMID:30558019|PMID:30945278|PMID:31105003|PMID:31152295|PMID:31164858|PMID:31180159|PMID:31199083|PMID:31418850|PMID:31440721|PMID:31440733|PMID:31512412|PMID:32139178|PMID:32184343|PMID:32411386|PMID:32532640|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32917465|PMID:33057194|PMID:33333793|PMID:33528536|PMID:3360469|PMID:33659638|PMID:33726816|PMID:34020651|PMID:34426522|PMID:34489640|PMID:34711204|PMID:35104249|PMID:35468861|PMID:35557555|PMID:35571021|PMID:35627257|PMID:35642783|PMID:35982159|PMID:36035117|PMID:36380967|PMID:36403551|PMID:36801247|PMID:36849527|PMID:37405542|PMID:38221827|PMID:38241158|PMID:39814994|PMID:9425895|PMID:9430594|PMID:9536098|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:23708187|PMID:24107868|PMID:25740509|PMID:25741868|PMID:25880994|PMID:26993267|PMID:27535030|PMID:28133863|PMID:28139826|PMID:28492532|PMID:28687180|PMID:29190809|PMID:34711204|PMID:35557555|PMID:36801247
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9001581	Constipation		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:12742592|PMID:23934111|PMID:25741868|PMID:25959266|PMID:26070303|PMID:27479843|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31105003|PMID:31418850|PMID:32770121|PMID:33333793
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9002189	High Myopia		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:14534157|PMID:18483067|PMID:19453707|PMID:24375629|PMID:24586341|PMID:25741868|PMID:25959266|PMID:26138355|PMID:26704558|PMID:27535030|PMID:28492532|PMID:28717674|PMID:29263209|PMID:31152295|PMID:9425895|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9002563	Gait Ataxia		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868|PMID:28492532
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532|PMID:34711204|PMID:35557555|PMID:36801247
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9003109	Benign Familial Neonatal Seizures, 2		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2	PMID:12742592|PMID:17129708|PMID:28492532|PMID:29314763|PMID:31199083
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:28492532
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:14534157|PMID:23692823|PMID:25741868|PMID:27779742|PMID:28492532
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9004507	Hirsutism		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868|PMID:28492532
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:25741868|PMID:27535030|PMID:28492532|PMID:29215089
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9005077	Joint Instability		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532|PMID:34711204|PMID:35557555|PMID:36801247
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myoclonic seizure	PMID:23708187|PMID:24107868|PMID:25740509|PMID:25741868|PMID:25880994|PMID:26993267|PMID:27535030|PMID:28133863|PMID:28139826|PMID:28492532|PMID:28687180|PMID:29190809
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868|PMID:32532640
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:27535030
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:22275249|PMID:23708187|PMID:23934111|PMID:24107868|PMID:25740509|PMID:25741868|PMID:25880994|PMID:26993267|PMID:27479843|PMID:27535030|PMID:28133863|PMID:28139826|PMID:28492532|PMID:28687180|PMID:29190809|PMID:31105003|PMID:31623504|PMID:34711204|PMID:35377796|PMID:35557555|PMID:36801247
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9006888	Benign Neonatal Epilepsy, 1		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Benign Neonatal Epilepsy 1	PMID:11690625|PMID:12742592|PMID:12754513|PMID:14534157|PMID:14985406|PMID:16916607|PMID:17129708|PMID:18353052|PMID:18414213|PMID:20437616|PMID:22275249|PMID:22455920|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24375629|PMID:25052858|PMID:25262651|PMID:25740509|PMID:25741868|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26070303|PMID:26073431|PMID:26467025|PMID:26544041|PMID:26993267|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28492532|PMID:28687180|PMID:28717674|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29314763|PMID:29655203|PMID:29726930|PMID:29933521|PMID:30440138|PMID:30552426|PMID:31164858|PMID:31199083|PMID:31418850|PMID:31440721|PMID:31440733|PMID:31512412|PMID:32139178|PMID:32712949|PMID:32770121|PMID:32917465|PMID:33057194|PMID:33333793|PMID:33528536|PMID:33659638|PMID:33726816|PMID:34711204|PMID:35104249|PMID:35557555|PMID:35627257|PMID:35982159|PMID:36380967|PMID:36403551|PMID:36801247|PMID:38221827|PMID:38241158|PMID:39814994|PMID:9425895
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9007284	Precocious Puberty		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:12742592|PMID:17576681|PMID:25741868|PMID:25959266|PMID:26070303|PMID:28133863|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793|PMID:35377796|PMID:9536098
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9007661	Dwarfism		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:12742592|PMID:23934111|PMID:25741868|PMID:25959266|PMID:26070303|PMID:27479843|PMID:27535030|PMID:28492532|PMID:29215089|PMID:29314763|PMID:30552426|PMID:31105003|PMID:31418850|PMID:32770121|PMID:33333793|PMID:34711204|PMID:35557555|PMID:36801247
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9007722	Myoclonus		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868|PMID:28492532|PMID:28503627
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12742592|PMID:16916607|PMID:17129708|PMID:17576681|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:25052858|PMID:25740509|PMID:25741868|PMID:25880994|PMID:25959266|PMID:26007637|PMID:26070303|PMID:26544041|PMID:26993267|PMID:27479843|PMID:27535030|PMID:27602407|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28492532|PMID:28687180|PMID:29190809|PMID:29314763|PMID:30552426|PMID:31105003|PMID:31418850|PMID:32770121|PMID:33333793|PMID:35377796|PMID:9536098
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9008972	Hyperammonemia		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:12742592|PMID:25741868|PMID:25959266|PMID:26070303|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:936	brain disease		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalopathy | ClinVar Annotator: match by term: Neonatal encephalopathy	PMID:12742592|PMID:14534157|PMID:16199547|PMID:23692823|PMID:23708187|PMID:24107868|PMID:25740509|PMID:25741868|PMID:25880994|PMID:25959266|PMID:26070303|PMID:26993267|PMID:27535030|PMID:27779742|PMID:28133863|PMID:28139826|PMID:28492532|PMID:28687180|PMID:29190809|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:12742592|PMID:14534157|PMID:17576681|PMID:18483067|PMID:19453707|PMID:24375629|PMID:24586341|PMID:25741868|PMID:25959266|PMID:26070303|PMID:26138355|PMID:26704558|PMID:26795593|PMID:27535030|PMID:28492532|PMID:28717674|PMID:29263209|PMID:29314763|PMID:30552426|PMID:31152295|PMID:31418850|PMID:32770121|PMID:33333793|PMID:9425895|PMID:9536098|PMID:9872318
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9840	esotropia		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:23934111|PMID:25741868|PMID:27479843|PMID:31105003
8744167	Kcnq2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9970	obesity		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:27535030|PMID:28492532|PMID:29215089
8744226	Invs	inversin	gene	DOID:0080322	polycystic kidney disease	severity	ISO	RGD:1557314	D	RGD:9068941	20230107	RGD			PMID:16999740|REF_RGD_ID:155794378
8744226	Invs	inversin	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1604022	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Juvenile Nephronophthisis | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:12872123|PMID:16522655|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:22773737|PMID:23559409|PMID:24033266|PMID:24677454|PMID:25525159|PMID:25741868|PMID:26489027|PMID:28492532|PMID:31131822|PMID:31308072|PMID:31328266|PMID:33323469|PMID:33532864|PMID:34426522
8744226	Invs	inversin	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:12872123|PMID:25741868|PMID:28492532|PMID:31308072|PMID:31706999
8744226	Invs	inversin	gene	DOID:0111113	nephronophthisis 2		ISO	RGD:1604022	D	RGD:7240710	20180130	OMIM			
8744226	Invs	inversin	gene	DOID:0111113	nephronophthisis 2		ISO	RGD:1604022	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: INVS-related condition | ClinVar Annotator: match by term: Infantile nephronophthisis | ClinVar Annotator: match by term: NEPHRONOPHTHISIS 2 | ClinVar Annotator: match by term: Nephronophthisis 2 | ClinVar Annotator: match by term: Nephronophthisis 2, infantile | ClinVar Annotator: match by term: nephronophthisis 2	PMID:12872123|PMID:15852005|PMID:16522655|PMID:17576681|PMID:19050042|PMID:19177160|PMID:21866095|PMID:24677454|PMID:25741868|PMID:28492532|PMID:31131822|PMID:31308072|PMID:31328266|PMID:31706999|PMID:33323469|PMID:33532864|PMID:34426522|PMID:9536098
8744226	Invs	inversin	gene	DOID:10534	stomach cancer		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8744226	Invs	inversin	gene	DOID:1074	kidney failure		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kidney failure	PMID:25741868|PMID:28492532
8744226	Invs	inversin	gene	DOID:10763	hypertension		ISO	RGD:1604022	D	RGD:9068941	20230107	RGD		associated with nephronophthisis 2;	PMID:19177160|REF_RGD_ID:155791686
8744226	Invs	inversin	gene	DOID:12712	nephronophthisis		ISO	RGD:1604022	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:12872123|PMID:16199547|PMID:16522655|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:23559409|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26489027|PMID:26862157|PMID:28492532|PMID:33532864|PMID:34298581|PMID:9536098
8744226	Invs	inversin	gene	DOID:12712	nephronophthisis		ISO	RGD:1604022	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:11935322|PMID:12872123|PMID:15852005|PMID:16199547|PMID:16522655|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:23559409|PMID:23713026|PMID:24033266|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26489027|PMID:26862157|PMID:2702088|PMID:28492532|PMID:30029678|PMID:31131822|PMID:32173348|PMID:32335886|PMID:33532864|PMID:34031707|PMID:34295353|PMID:34298581|PMID:9536098
8744226	Invs	inversin	gene	DOID:12712	nephronophthisis		ISO	RGD:1604022	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:11935322|PMID:12872123|PMID:15852005|PMID:16199547|PMID:16522655|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:22773737|PMID:23559409|PMID:23713026|PMID:24033266|PMID:24677454|PMID:25525159|PMID:25741868|PMID:26489027|PMID:26862157|PMID:2702088|PMID:28492532|PMID:30029678|PMID:31131822|PMID:31706999|PMID:32173348|PMID:32335886|PMID:33323469|PMID:33532864|PMID:34031707|PMID:34295353|PMID:34298581|PMID:9536098
8744226	Invs	inversin	gene	DOID:12712	nephronophthisis		ISO	RGD:1604022	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:11935322|PMID:12872123|PMID:16199547|PMID:17576681|PMID:19177160|PMID:23559409|PMID:23713026|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26862157|PMID:28492532|PMID:30029678|PMID:31308072|PMID:31706999|PMID:32173348|PMID:32335886|PMID:34031707|PMID:34295353|PMID:34298581|PMID:9536098
8744226	Invs	inversin	gene	DOID:1324	lung cancer		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8744226	Invs	inversin	gene	DOID:13580	cholestasis		ISO	RGD:1557314	D	RGD:9068941	20230107	RGD			PMID:10421642|REF_RGD_ID:155791685
8744226	Invs	inversin	gene	DOID:13929	lacrimal duct obstruction		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nasolacrimal duct obstruction	PMID:12872123|PMID:25741868|PMID:28492532|PMID:31706999
8744226	Invs	inversin	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:12872123|PMID:25741868|PMID:28492532|PMID:31706999
8744226	Invs	inversin	gene	DOID:1909	melanoma		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8744226	Invs	inversin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8744226	Invs	inversin	gene	DOID:2975	cystic kidney disease		ISO	RGD:1557314	D	RGD:9068941	20230107	RGD			PMID:24586938|REF_RGD_ID:155794377
8744226	Invs	inversin	gene	DOID:3275	thymoma		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8744226	Invs	inversin	gene	DOID:5041	esophageal cancer		ISO	RGD:1604022	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8744226	Invs	inversin	gene	DOID:5723	optic atrophy		ISO	RGD:1604022	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8744226	Invs	inversin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8744226	Invs	inversin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8744226	Invs	inversin	gene	DOID:630	genetic disease		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8744226	Invs	inversin	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1557314	D	RGD:9068941	20220825	MouseDO		OMIM:187500	
8744226	Invs	inversin	gene	DOID:783	end stage renal disease		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:25741868|PMID:28492532
8744226	Invs	inversin	gene	DOID:8501	fundus dystrophy		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:24610927|PMID:25741868
8744226	Invs	inversin	gene	DOID:9004898	Jaundice		ISO	RGD:1557314	D	RGD:9068941	20230107	RGD			PMID:10421642|REF_RGD_ID:155791685
8744226	Invs	inversin	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:12872123|PMID:25741868|PMID:28492532|PMID:31706999
8744226	Invs	inversin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8744226	Invs	inversin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8744226	Invs	inversin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8744251	Lyg1	lysozyme g1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8744251	Lyg1	lysozyme g1	gene	DOID:4362	cervical cancer		ISO	RGD:1602188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8744271	Tmprss9	transmembrane serine protease 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8744271	Tmprss9	transmembrane serine protease 9	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1617167	D	RGD:9068941	20220825	MouseDO			
8744271	Tmprss9	transmembrane serine protease 9	gene	DOID:1115	sarcoma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8744271	Tmprss9	transmembrane serine protease 9	gene	DOID:1909	melanoma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8744271	Tmprss9	transmembrane serine protease 9	gene	DOID:3070	high grade glioma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8744271	Tmprss9	transmembrane serine protease 9	gene	DOID:3275	thymoma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8744271	Tmprss9	transmembrane serine protease 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1319995	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8744271	Tmprss9	transmembrane serine protease 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8744271	Tmprss9	transmembrane serine protease 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8744271	Tmprss9	transmembrane serine protease 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8744271	Tmprss9	transmembrane serine protease 9	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319995	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8744291	Ano3	anoctamin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8744291	Ano3	anoctamin 3	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	
8744291	Ano3	anoctamin 3	gene	DOID:0090052	dystonia 24		ISO	RGD:1318896	D	RGD:7240710	20180130	OMIM			
8744291	Ano3	anoctamin 3	gene	DOID:0090052	dystonia 24		ISO	RGD:1318896	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANO3-related disorder | ClinVar Annotator: match by term: DYSTONIA 24 | ClinVar Annotator: match by term: Dystonia 24 | ClinVar Annotator: match by term: dystonia 24	PMID:23200863|PMID:25741868|PMID:27392807|PMID:27666935|PMID:28492532|PMID:31053532|PMID:33388357|PMID:33640251
8744291	Ano3	anoctamin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8744291	Ano3	anoctamin 3	gene	DOID:1115	sarcoma		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8744291	Ano3	anoctamin 3	gene	DOID:12859	choreatic disease		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868
8744291	Ano3	anoctamin 3	gene	DOID:3275	thymoma		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8744291	Ano3	anoctamin 3	gene	DOID:543	dystonia		ISO	RGD:1318896	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder	PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:27666935|PMID:28492532|PMID:29449182|PMID:30502610|PMID:31053532|PMID:9536098
8744291	Ano3	anoctamin 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8744291	Ano3	anoctamin 3	gene	DOID:630	genetic disease		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8744291	Ano3	anoctamin 3	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1308873	D	RGD:9068941	20200609	RGD			PMID:23872594|REF_RGD_ID:9681745
8744291	Ano3	anoctamin 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
8744291	Ano3	anoctamin 3	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:25741868
8744291	Ano3	anoctamin 3	gene	DOID:9007956	Febrile Seizures		ISO	RGD:1318896	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25344690
8744291	Ano3	anoctamin 3	gene	DOID:9008675	Dyskinesias		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:25741868|PMID:28492532|PMID:31053532
8744291	Ano3	anoctamin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8744291	Ano3	anoctamin 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8744325	Zc2hc1c	zinc finger C2HC-type containing 1C	gene	DOID:10534	stomach cancer		ISO	RGD:1316129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8744325	Zc2hc1c	zinc finger C2HC-type containing 1C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8744325	Zc2hc1c	zinc finger C2HC-type containing 1C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8744334	Nrros	negative regulator of reactive oxygen species	gene	DOID:630	genetic disease		ISO	RGD:1602040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8744334	Nrros	negative regulator of reactive oxygen species	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1602040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8744334	Nrros	negative regulator of reactive oxygen species	gene	DOID:9006016	SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS		ISO	RGD:1602040	D	RGD:7240710	20200819	OMIM			
8744334	Nrros	negative regulator of reactive oxygen species	gene	DOID:9006016	SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS		ISO	RGD:1602040	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS | ClinVar Annotator: match by term: Seizures, early-onset, with neurodegeneration and brain calcifications	PMID:25741868|PMID:32197075
8744334	Nrros	negative regulator of reactive oxygen species	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8744344	Entpd7	ectonucleoside triphosphate diphosphohydrolase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8744344	Entpd7	ectonucleoside triphosphate diphosphohydrolase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1321659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8744344	Entpd7	ectonucleoside triphosphate diphosphohydrolase 7	gene	DOID:1115	sarcoma		ISO	RGD:1321659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8744344	Entpd7	ectonucleoside triphosphate diphosphohydrolase 7	gene	DOID:1324	lung cancer		ISO	RGD:1321659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8744344	Entpd7	ectonucleoside triphosphate diphosphohydrolase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8744344	Entpd7	ectonucleoside triphosphate diphosphohydrolase 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8744344	Entpd7	ectonucleoside triphosphate diphosphohydrolase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8744344	Entpd7	ectonucleoside triphosphate diphosphohydrolase 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8744360	Rbm47	RNA binding motif protein 47	gene	DOID:10534	stomach cancer		ISO	RGD:1642917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8744360	Rbm47	RNA binding motif protein 47	gene	DOID:1115	sarcoma		ISO	RGD:1642917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8744360	Rbm47	RNA binding motif protein 47	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1642917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8744360	Rbm47	RNA binding motif protein 47	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1642917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8744360	Rbm47	RNA binding motif protein 47	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1642917	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8744360	Rbm47	RNA binding motif protein 47	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1642917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8744360	Rbm47	RNA binding motif protein 47	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1642917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8744360	Rbm47	RNA binding motif protein 47	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1642917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:0050548	hereditary sensory and autonomic neuropathy		ISO	RGD:12301711	D	RGD:9068941	20250717	OMIA		Acral mutilation syndrome	PMID:15842538|PMID:20961556|PMID:28033318|PMID:30955094|PMID:34861369|PMID:37582787|PMID:38003185|PMID:4725277|PMID:6203326|PMID:6259871|PMID:6574711
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:0050741	alcohol dependence		ISO	RGD:2677	D	RGD:9068941	20240525	RGD			PMID:24801661|REF_RGD_ID:405849388
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:0050741	alcohol dependence		ISO	RGD:735823	D	RGD:9068941	20240530	RGD		protein:decreased expression:serum	PMID:20553781|REF_RGD_ID:405849399
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:0050741	alcohol dependence	treatment	ISO	RGD:2677	D	RGD:9068941	20240606	RGD			PMID:15659598|PMID:19232578|REF_RGD_ID:405820207|REF_RGD_ID:405850246
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:0050742	nicotine dependence		ISO	RGD:10631	D	RGD:9068941	20240606	RGD		protein:decreased expression:hippocampus, striatum	PMID:34508846|REF_RGD_ID:405850211
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:0050742	nicotine dependence		ISO	RGD:2677	D	RGD:9068941	20240606	RGD		associated with alcohol use disorder;mRNA:decreased expression:shell of nucleus accumbens	PMID:25155311|REF_RGD_ID:405850247
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:0050771	pheochromocytoma		ISO	RGD:735823	D	RGD:9068941	20210820	CTD		CTD Direct Evidence: marker/mechanism	PMID:9215674
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:0060161	Kennedy's disease		ISO	RGD:735823	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skeletal muscle	PMID:10447463|REF_RGD_ID:6218978
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:0060731	congenital central hypoventilation syndrome		ISO	RGD:735823	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: GDNF-related condition	PMID:11565554|PMID:11823451|PMID:12640453|PMID:19184120|PMID:21206993|PMID:22729463|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8896568|PMID:8896569|PMID:9215674|PMID:9359036|PMID:9497256
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:10631	D	RGD:9068941	20240525	RGD		mRNA,protein:increased expression:liver	PMID:35338490|REF_RGD_ID:405849393
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:735823	D	RGD:9068941	20240525	RGD		protein:increased expression:serum	PMID:35338490|REF_RGD_ID:405849393
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:0080855	Parkinsonism		ISO	RGD:2677	D	RGD:9068941	20200609	RGD			PMID:21865882|REF_RGD_ID:6218962
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:0080855	Parkinsonism		ISO	RGD:2677	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:22186119|REF_RGD_ID:5686884
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:0080855	Parkinsonism		ISO	RGD:735823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12213621|PMID:9266731
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:2677	D	RGD:9068941	20240711	RGD			PMID:21147986|REF_RGD_ID:405878069
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:735823	D	RGD:9068941	20240711	RGD			PMID:16018990|PMID:27286696|PMID:29372975|REF_RGD_ID:405878061|REF_RGD_ID:405878071|REF_RGD_ID:8657066
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:735823	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3	PMID:10917288|PMID:11823451|PMID:24997227|PMID:25741868|PMID:26489027|PMID:30476936
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:10487	Hirschsprung's disease	susceptibility	ISO	RGD:735823	D	RGD:7240710	20190502	OMIM			
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735823	D	RGD:9068941	20200609	RGD		mRNA, protein:alternate form, decreased expression:brain	PMID:22081608|REF_RGD_ID:5688777
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:10631	D	RGD:9068941	20240608	RGD			PMID:30776009|REF_RGD_ID:405850256
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:10933	obsessive-compulsive disorder	treatment	ISO	RGD:2677	D	RGD:9068941	20240711	RGD			PMID:31927718|REF_RGD_ID:405866519
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:11446	sciatic neuropathy		ISO	RGD:2677	D	RGD:9068941	20200609	RGD		mRNA:increased expression:sciatic nerve	PMID:10852218|REF_RGD_ID:6218977
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:12689	acoustic neuroma		ISO	RGD:735823	D	RGD:9068941	20200609	RGD		mRNA:increased expression:peripheral nerve:	PMID:19937367|REF_RGD_ID:8655552
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:12700	hyperprolactinemia	treatment	ISO	RGD:2677	D	RGD:9068941	20240711	RGD			PMID:20219648|REF_RGD_ID:405878070
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:12842	Guillain-Barre syndrome		ISO	RGD:735823	D	RGD:9068941	20200609	RGD			PMID:9853108|REF_RGD_ID:6218983
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:12858	Huntington's disease		ISO	RGD:735823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16943855
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:1289	neurodegenerative disease		ISO	RGD:735823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11592846
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:735823	D	RGD:9068941	20200609	RGD			PMID:9853108|REF_RGD_ID:6218983
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:13548	secondary Parkinson disease		ISO	RGD:735823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19909981
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:14330	Parkinson's disease		ISO	RGD:735823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11031079|PMID:16324109
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:14330	Parkinson's disease		ISO	RGD:735823	D	RGD:9068941	20200609	RGD		mRNA:increased expression:putamen	PMID:16644101|REF_RGD_ID:6218968
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:1574	alcohol use disorder		ISO	RGD:2677	D	RGD:9068941	20240511	RGD		DNA:hypomethylation:nucleus accumbens	PMID:31710958|REF_RGD_ID:405820205
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:1574	alcohol use disorder		ISO	RGD:2677	D	RGD:9068941	20240606	RGD		associated with Tobacco Use Disorder;mRNA:decreased expression:ventral tegmental area	PMID:28559549|REF_RGD_ID:405850249
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:1574	alcohol use disorder		ISO	RGD:735823	D	RGD:9068941	20240210	RGD		protein:increased expression:serum	PMID:25623403|REF_RGD_ID:401965480
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:2677	D	RGD:9068941	20240525	RGD			PMID:22238721|REF_RGD_ID:405849387
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:1596	depressive disorder		ISO	RGD:735823	D	RGD:9068941	20240530	RGD		DNA:SNP: :rs884344	PMID:24022000|REF_RGD_ID:405849398
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:1793	pancreatic cancer	severity	ISO	RGD:735823	D	RGD:9068941	20200609	RGD			PMID:18652760|REF_RGD_ID:2324925
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:1824	status epilepticus		ISO	RGD:735823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12914250|PMID:7854063
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:1826	epilepsy		ISO	RGD:735823	D	RGD:9068941	20200609	RGD			PMID:19162016|REF_RGD_ID:6218965
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:2030	anxiety disorder		ISO	RGD:735823	D	RGD:9068941	20240525	RGD		DNA:SNPs, haplotypes:rs3812047, rs3096140 (human)	PMID:24324616|REF_RGD_ID:405849392
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:2030	anxiety disorder	no_association	ISO	RGD:735823	D	RGD:9068941	20240525	RGD		DNA:SNPs:multiple	PMID:24324616|REF_RGD_ID:405849392
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:2921	glomerulonephritis	treatment	ISO	RGD:735823	D	RGD:9068941	20240627	RGD			PMID:22105543|REF_RGD_ID:405866361
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:3049	Churg-Strauss syndrome		ISO	RGD:735823	D	RGD:9068941	20200609	RGD			PMID:9853108|REF_RGD_ID:6218983
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:3068	glioblastoma		ISO	RGD:735823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19138852
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:3070	high grade glioma		ISO	RGD:735823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19138852
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:3181	oligodendroglioma		ISO	RGD:735823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19138852
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:735823	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skeletal muscle	PMID:10447463|REF_RGD_ID:6218978
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:3328	temporal lobe epilepsy	treatment	ISO	RGD:2677	D	RGD:9068941	20240711	RGD			PMID:25105891|REF_RGD_ID:405878065
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:2677	D	RGD:9068941	20240711	RGD			PMID:20468049|PMID:21347705|PMID:28202057|PMID:29497380|REF_RGD_ID:405866359|REF_RGD_ID:405866363|REF_RGD_ID:405878057|REF_RGD_ID:40925919
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:440	neuromuscular disease	treatment	ISO	RGD:2677	D	RGD:9068941	20240711	RGD		associated with Sepsis	PMID:29307828|REF_RGD_ID:405866520
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:4752	multiple system atrophy		ISO	RGD:10631	D	RGD:9068941	20200609	RGD			PMID:22281106|REF_RGD_ID:5688775
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:670	amphetamine abuse		ISO	RGD:2677	D	RGD:9068941	20250109	RGD		protein:increased expression:nucleus accumbens, ventral tegmental area	PMID:37904065|REF_RGD_ID:596938173
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:670	amphetamine abuse		ISO	RGD:735823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17356005
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:670	amphetamine abuse	treatment	ISO	RGD:10631	D	RGD:9068941	20240606	RGD			PMID:23432945|REF_RGD_ID:405850210
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:8466	retinal degeneration		ISO	RGD:735823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17935603
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:10631	D	RGD:9068941	20200609	RGD			PMID:22342994|REF_RGD_ID:5688774
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:10631	D	RGD:9068941	20240606	RGD			PMID:22490786|REF_RGD_ID:405850245
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2677	D	RGD:9068941	20240711	RGD			PMID:36914965|REF_RGD_ID:405878056
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:735823	D	RGD:9068941	20240711	RGD			PMID:26415641|PMID:28296347|REF_RGD_ID:13208513|REF_RGD_ID:405878060
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9000499	Alcoholic Intoxication		ISO	RGD:10631	D	RGD:9068941	20240606	RGD		mRNA:decreased expression:basal nucleus	PMID:24061482|REF_RGD_ID:405850213
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9000585	Intervertebral Disc Disease		ISO	RGD:735823	D	RGD:9068941	20240608	RGD		mRNA:increased expression:intervertebral disc	PMID:37888810|REF_RGD_ID:405850252
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9000998	Brain Injuries		ISO	RGD:2677	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:18501516|REF_RGD_ID:2324932
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9001471	Anorectal Malformations		ISO	RGD:2677	D	RGD:9068941	20240711	RGD		protein:decreased expression:rectum	PMID:23334620|REF_RGD_ID:405878053
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9001581	Constipation	treatment	ISO	RGD:2677	D	RGD:9068941	20240718	RGD			PMID:35218624|REF_RGD_ID:405878054
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:735823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20457222
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:2677	D	RGD:9068941	20240627	RGD		mRNA, protein:decreased expression:kidney	PMID:25986755|REF_RGD_ID:405866360
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9002676	Cerebral Hemorrhage	treatment	ISO	RGD:2677	D	RGD:9068941	20240711	RGD			PMID:21311297|REF_RGD_ID:405878068
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9002735	alcohol withdrawal syndrome		ISO	RGD:2677	D	RGD:9068941	20240511	RGD		mRNA, DNA:altered expression, hypomethylation:brain	PMID:31710958|REF_RGD_ID:405820205
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9003814	Neurologic Manifestations		ISO	RGD:735823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19894114
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9003870	Herpes Simplex Encephalitis		ISO	RGD:10631	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain:	PMID:15950786|REF_RGD_ID:8657070
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:2677	D	RGD:9068941	20240516	RGD		mRNA:increased expression:frontal cortex	PMID:11798749|REF_RGD_ID:728679
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:735823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:14622243|PMID:15899247
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9005834	Ependymomas		ISO	RGD:735823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19138852
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9006302	Binge Drinking		ISO	RGD:2677	D	RGD:9068941	20240525	RGD			PMID:23298382|REF_RGD_ID:405849390
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9006302	Binge Drinking		ISO	RGD:2677	D	RGD:9068941	20240525	RGD		protein:altered expression:amygdala, pyriform cortex, bed nucleus of stria terminalis	PMID:23588198|REF_RGD_ID:405849391
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9006358	Postoperative Cognitive Dysfunction		ISO	RGD:2677	D	RGD:9068941	20240127	RGD		protein:decreased expression:hippocampus,urine	PMID:36688960|REF_RGD_ID:401959611
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9006358	Postoperative Cognitive Dysfunction		ISO	RGD:2677	D	RGD:9068941	20240627	RGD		protein:altered expression:hippocampus, urine	PMID:34728231|REF_RGD_ID:405866364
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9006358	Postoperative Cognitive Dysfunction		ISO	RGD:735823	D	RGD:9068941	20240606	RGD		associated with rheumatic heart disease;protein:increased expression:serum	PMID:28918204|REF_RGD_ID:405850250
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:10631	D	RGD:9068941	20240606	RGD			PMID:29512789|REF_RGD_ID:405850251
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:2677	D	RGD:9068941	20240606	RGD			PMID:25251457|PMID:33324197|REF_RGD_ID:405849389|REF_RGD_ID:405850212
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:2677	D	RGD:9068941	20200609	RGD			PMID:15144875|REF_RGD_ID:6218970
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9008394	Drug-Induced Dyskinesia		ISO	RGD:735823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11168568
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9778	irritable bowel syndrome	treatment	ISO	RGD:2677	D	RGD:9068941	20240711	RGD			PMID:31188015|REF_RGD_ID:405878055
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9810	polyarteritis nodosa		ISO	RGD:735823	D	RGD:9068941	20200609	RGD			PMID:9853108|REF_RGD_ID:6218983
8744389	Gdnf	glial cell derived neurotrophic factor	gene	DOID:9976	heroin dependence		ISO	RGD:735823	D	RGD:9068941	20240530	RGD		DNA:SNP: :rs2910709	PMID:24022000|REF_RGD_ID:405849398
8744441	Parp10	poly(ADP-ribose) polymerase family member 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8744441	Parp10	poly(ADP-ribose) polymerase family member 10	gene	DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy		ISO	RGD:14713333|RGD:151851839	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy	PMID:28492532
8744441	Parp10	poly(ADP-ribose) polymerase family member 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8744441	Parp10	poly(ADP-ribose) polymerase family member 10	gene	DOID:1115	sarcoma		ISO	RGD:1348193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8744441	Parp10	poly(ADP-ribose) polymerase family member 10	gene	DOID:1909	melanoma		ISO	RGD:1348193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8744441	Parp10	poly(ADP-ribose) polymerase family member 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1348193	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8744441	Parp10	poly(ADP-ribose) polymerase family member 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8744441	Parp10	poly(ADP-ribose) polymerase family member 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8744441	Parp10	poly(ADP-ribose) polymerase family member 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8744441	Parp10	poly(ADP-ribose) polymerase family member 10	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348193	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8744441	Parp10	poly(ADP-ribose) polymerase family member 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8744471	Slc23a1	solute carrier family 23 member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1342862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8744471	Slc23a1	solute carrier family 23 member 1	gene	DOID:1115	sarcoma		ISO	RGD:1342862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8744471	Slc23a1	solute carrier family 23 member 1	gene	DOID:11162	respiratory failure		ISO	RGD:1342862	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11984597
8744471	Slc23a1	solute carrier family 23 member 1	gene	DOID:13580	cholestasis		ISO	RGD:1342862	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18706437
8744471	Slc23a1	solute carrier family 23 member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8744471	Slc23a1	solute carrier family 23 member 1	gene	DOID:3275	thymoma		ISO	RGD:1342862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8744471	Slc23a1	solute carrier family 23 member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1342862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8744471	Slc23a1	solute carrier family 23 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8744471	Slc23a1	solute carrier family 23 member 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1342862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8744471	Slc23a1	solute carrier family 23 member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8744471	Slc23a1	solute carrier family 23 member 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1342862	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8744471	Slc23a1	solute carrier family 23 member 1	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:1342862	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11984597
8744471	Slc23a1	solute carrier family 23 member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8744501	Pdzd11	PDZ domain containing 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8744501	Pdzd11	PDZ domain containing 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8744501	Pdzd11	PDZ domain containing 11	gene	DOID:4362	cervical cancer		ISO	RGD:1350594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8744501	Pdzd11	PDZ domain containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8744501	Pdzd11	PDZ domain containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8744501	Pdzd11	PDZ domain containing 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8744522	Nanos2	nanos C2HC-type zinc finger 2	gene	DOID:12336	male infertility		ISO	RGD:1354099	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22190708
8744537	Csrnp1	cysteine and serine rich nuclear protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1314362	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8744537	Csrnp1	cysteine and serine rich nuclear protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8744537	Csrnp1	cysteine and serine rich nuclear protein 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314362	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16243910
8744537	Csrnp1	cysteine and serine rich nuclear protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1314362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8744537	Csrnp1	cysteine and serine rich nuclear protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8744537	Csrnp1	cysteine and serine rich nuclear protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8744537	Csrnp1	cysteine and serine rich nuclear protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314362	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8744537	Csrnp1	cysteine and serine rich nuclear protein 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8744555	Dusp7	dual specificity phosphatase 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8744555	Dusp7	dual specificity phosphatase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8744555	Dusp7	dual specificity phosphatase 7	gene	DOID:0080600	COVID-19		ISO	RGD:1350752	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8744555	Dusp7	dual specificity phosphatase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1350752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8744555	Dusp7	dual specificity phosphatase 7	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8744555	Dusp7	dual specificity phosphatase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8744555	Dusp7	dual specificity phosphatase 7	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8744555	Dusp7	dual specificity phosphatase 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8744578	Polg2	DNA polymerase gamma 2, accessory subunit	gene	DOID:0070446	mitochondrial DNA depletion syndrome 16		ISO	RGD:1312978	D	RGD:7240710	20190904	OMIM			
8744578	Polg2	DNA polymerase gamma 2, accessory subunit	gene	DOID:0070447	mitochondrial DNA depletion syndrome 16B		ISO	RGD:1312978	D	RGD:7240710	20210825	OMIM			
8744578	Polg2	DNA polymerase gamma 2, accessory subunit	gene	DOID:0111525	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4		ISO	RGD:1312978	D	RGD:7240710	20180130	OMIM			
8744578	Polg2	DNA polymerase gamma 2, accessory subunit	gene	DOID:0111525	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4		ISO	RGD:1312978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	PMID:25741868
8744578	Polg2	DNA polymerase gamma 2, accessory subunit	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1312979	D	RGD:9068941	20220825	MouseDO			
8744578	Polg2	DNA polymerase gamma 2, accessory subunit	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1312979	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:retina,mitochondrion:	PMID:22229649|REF_RGD_ID:8694187
8744595	Emb	embigin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8744595	Emb	embigin	gene	DOID:0060058	lymphoma		ISO	RGD:1342878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8744595	Emb	embigin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8744595	Emb	embigin	gene	DOID:1115	sarcoma		ISO	RGD:1342878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8744595	Emb	embigin	gene	DOID:1909	melanoma		ISO	RGD:1342878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8744595	Emb	embigin	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1342878	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
8744595	Emb	embigin	gene	DOID:4362	cervical cancer		ISO	RGD:1342878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8744595	Emb	embigin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8744595	Emb	embigin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1342878	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8744595	Emb	embigin	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1342878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8744595	Emb	embigin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8744623	Prrc1	proline rich coiled-coil 1	gene	DOID:10534	stomach cancer		ISO	RGD:1601934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8744623	Prrc1	proline rich coiled-coil 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8744623	Prrc1	proline rich coiled-coil 1	gene	DOID:1115	sarcoma		ISO	RGD:1601934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8744623	Prrc1	proline rich coiled-coil 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8744623	Prrc1	proline rich coiled-coil 1	gene	DOID:3275	thymoma		ISO	RGD:1601934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8744623	Prrc1	proline rich coiled-coil 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8744623	Prrc1	proline rich coiled-coil 1	gene	DOID:4362	cervical cancer		ISO	RGD:1601934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8744623	Prrc1	proline rich coiled-coil 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8744623	Prrc1	proline rich coiled-coil 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8744623	Prrc1	proline rich coiled-coil 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8744623	Prrc1	proline rich coiled-coil 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:0050847	sleep apnea		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:25741868
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:0060321	umbilical hernia		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:0080070	mucolipidosis II alpha/beta		ISO	RGD:1603959	D	RGD:7240710	20180130	OMIM			
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:0080070	mucolipidosis II alpha/beta		ISO	RGD:1603959	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Mucolipidosis type II	PMID:15633164|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17034777|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20301730|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:22495880|PMID:23192343|PMID:23227064|PMID:23566849|PMID:23773965|PMID:23926388|PMID:24033266|PMID:24045841|PMID:24060719|PMID:24375680|PMID:24550498|PMID:24767253|PMID:24798265|PMID:24807205|PMID:25107912|PMID:25473036|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25741909|PMID:25741916|PMID:25788519|PMID:26130485|PMID:26274329|PMID:26385638|PMID:26633542|PMID:27180337|PMID:27239697|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28396763|PMID:28492532|PMID:28649523|PMID:28918368|PMID:29140481|PMID:29704188|PMID:29872134|PMID:29966168|PMID:30105123|PMID:30208878|PMID:30882951|PMID:31003007|PMID:31130284|PMID:31319225|PMID:31405983|PMID:31579991|PMID:31589614|PMID:31603145|PMID:31785789|PMID:31795562|PMID:31934135|PMID:32014045|PMID:32341820|PMID:32651481|PMID:32746448|PMID:32860008|PMID:33000604|PMID:33594065|PMID:34008892|PMID:34426522|PMID:34440436|PMID:34645491|PMID:35463894|PMID:9536098
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:0080070	mucolipidosis II alpha/beta		ISO	RGD:1603959	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GNPTAB-related condition | ClinVar Annotator: match by term: GNPTAB-related disorder | ClinVar Annotator: match by term: I cell disease | ClinVar Annotator: match by term: Inclusion cell disease | ClinVar Annotator: match by term: MUCOLIPIDOSIS II ALPHA/BETA | ClinVar Annotator: match by term: Mucolipidosis II | ClinVar Annotator: match by term: Mucolipidosis II alpha/beta | ClinVar Annotator: match by term: Mucolipidosis type II	PMID:15633164|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17034777|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20301730|PMID:20886637|PMID:21416587|PMID:21549105|PMID:22495880|PMID:23192343|PMID:23227064|PMID:23566849|PMID:23773965|PMID:23926388|PMID:24045841|PMID:24060719|PMID:24375680|PMID:24550498|PMID:24767253|PMID:24798265|PMID:24807205|PMID:25107912|PMID:25473036|PMID:25505245|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25788519|PMID:26130485|PMID:26274329|PMID:26385638|PMID:2651481|PMID:26633542|PMID:27239697|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28396763|PMID:28492532|PMID:28649523|PMID:28918368|PMID:29140481|PMID:29704188|PMID:29872134|PMID:29966168|PMID:30105123|PMID:30208878|PMID:30882951|PMID:31003007|PMID:31130284|PMID:31319225|PMID:31405983|PMID:31579991|PMID:31589614|PMID:31603145|PMID:31785789|PMID:31795562|PMID:31934135|PMID:32014045|PMID:32036093|PMID:32220096|PMID:32651481|PMID:32746448|PMID:32860008|PMID:33000604|PMID:33594065|PMID:34008892|PMID:34341521|PMID:34342781|PMID:34426522|PMID:34645491|PMID:35005816|PMID:35463894|PMID:38837156|PMID:39710647|PMID:9536098
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:0080071	mucolipidosis III alpha/beta		ISO	RGD:1603959	D	RGD:7240710	20180130	OMIM			
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:0080071	mucolipidosis III alpha/beta		ISO	RGD:1603959	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MUCOLIPIDOSIS III ALPHA/BETA | ClinVar Annotator: match by term: Mucolipidosis III Alpha/Beta | ClinVar Annotator: match by term: Mucolipidosis III alpha/beta | ClinVar Annotator: match by term: Mucolipidosis type III, alpha/beta | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy	PMID:16116615|PMID:16199547|PMID:16465621|PMID:16630736|PMID:17576681|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20301728|PMID:21549105|PMID:23566849|PMID:24550498|PMID:24767253|PMID:25107912|PMID:25505245|PMID:25741868|PMID:25788519|PMID:26385638|PMID:26749367|PMID:27180337|PMID:27662472|PMID:28492532|PMID:28649523|PMID:29872134|PMID:30208878|PMID:30882951|PMID:31579991|PMID:31589614|PMID:32651481|PMID:34426522|PMID:34440436|PMID:9536098
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:0080488	mucolipidosis		ISO	RGD:1603959	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Mucolipidoses | ClinVar Annotator: match by term: Mucolipidosis	PMID:16199547|PMID:16465621|PMID:19617216|PMID:19634183|PMID:20301728|PMID:22570975|PMID:24033266|PMID:25107912|PMID:25741868|PMID:25788519|PMID:28492532|PMID:28649523|PMID:30882951
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:0111390	mucopolysaccharidosis Ih		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysostosis multiplex	PMID:25741868
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:1115	sarcoma		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:1283	enterocele		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:16199547|PMID:19617216|PMID:25107912|PMID:25741868|PMID:28492532|PMID:32651481
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:1324	lung cancer		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:1909	melanoma		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:2355	anemia		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:3275	thymoma		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:3343	glycoproteinosis		ISO	RGD:1603959	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy	PMID:15633164|PMID:16094673|PMID:16116615|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:23192343|PMID:23566849|PMID:23926388|PMID:24045841|PMID:24375680|PMID:24550498|PMID:24767253|PMID:25107912|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:26130485|PMID:26749367|PMID:27180337|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28492532|PMID:28649523|PMID:29704188|PMID:29872134|PMID:30208878|PMID:30882951|PMID:31579991|PMID:31934135|PMID:9536098
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:3343	glycoproteinosis		ISO	RGD:1603959	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Type III Mucolipidosis	PMID:15633164|PMID:16094673|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:23192343|PMID:23227064|PMID:23566849|PMID:23926388|PMID:24045841|PMID:24375680|PMID:24550498|PMID:24767253|PMID:25107912|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25741909|PMID:25788519|PMID:26130485|PMID:26385638|PMID:26633542|PMID:26749367|PMID:27180337|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28492532|PMID:28649523|PMID:28918368|PMID:29704188|PMID:29872134|PMID:30208878|PMID:30882951|PMID:31579991|PMID:31589614|PMID:31934135|PMID:32651481|PMID:34426522|PMID:34440436|PMID:34645491|PMID:9536098
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:3343	glycoproteinosis		ISO	RGD:1603959	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy	PMID:15633164|PMID:16094673|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:23192343|PMID:23227064|PMID:23566849|PMID:23926388|PMID:24045841|PMID:24375680|PMID:24550498|PMID:24767253|PMID:25107912|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:26130485|PMID:26385638|PMID:26633542|PMID:26749367|PMID:27180337|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28492532|PMID:28649523|PMID:28918368|PMID:29704188|PMID:29872134|PMID:30105123|PMID:30208878|PMID:30882951|PMID:31579991|PMID:31589614|PMID:31795562|PMID:31934135|PMID:32651481|PMID:34426522|PMID:34440436|PMID:34645491|PMID:9536098
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:3343	glycoproteinosis		ISO	RGD:1603959	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Type III Mucolipidosis	PMID:16199547|PMID:17576681|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20301728|PMID:23566849|PMID:24550498|PMID:24767253|PMID:25107912|PMID:25505245|PMID:25741868|PMID:25788519|PMID:26385638|PMID:26749367|PMID:27180337|PMID:28492532|PMID:28649523|PMID:29872134|PMID:30882951|PMID:31579991|PMID:31589614|PMID:32651481|PMID:34426522|PMID:34440436|PMID:9536098
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:4362	cervical cancer		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:4702	mongolian spot		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	PMID:25741868
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:630	genetic disease		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:16199547|PMID:19617216|PMID:25107912|PMID:25741868|PMID:28492532|PMID:32651481
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:9007661	Dwarfism		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature	PMID:16199547|PMID:19617216|PMID:25107912|PMID:25741868|PMID:28492532|PMID:32651481
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8744635	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:930	orbital disease		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:16199547|PMID:19617216|PMID:25107912|PMID:25741868|PMID:28492532|PMID:32651481
8744666	Cenpw	centromere protein W	gene	DOID:0080600	COVID-19		ISO	RGD:1350206	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8744666	Cenpw	centromere protein W	gene	DOID:1115	sarcoma		ISO	RGD:1350206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8744666	Cenpw	centromere protein W	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350206	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8744666	Cenpw	centromere protein W	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350206	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8744673	Itpr2	inositol 1,4,5-trisphosphate receptor type 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8744673	Itpr2	inositol 1,4,5-trisphosphate receptor type 2	gene	DOID:0060603	isolated anhidrosis with normal sweat glands		ISO	RGD:734228	D	RGD:7240710	20180130	OMIM			
8744673	Itpr2	inositol 1,4,5-trisphosphate receptor type 2	gene	DOID:0060603	isolated anhidrosis with normal sweat glands		ISO	RGD:734228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ITPR2-related condition | ClinVar Annotator: match by term: Isolated anhidrosis with normal sweat glands	PMID:25741868|PMID:28492532
8744673	Itpr2	inositol 1,4,5-trisphosphate receptor type 2	gene	DOID:1059	intellectual disability		ISO	RGD:734228	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8744673	Itpr2	inositol 1,4,5-trisphosphate receptor type 2	gene	DOID:10591	pre-eclampsia		ISO	RGD:734228	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
8744673	Itpr2	inositol 1,4,5-trisphosphate receptor type 2	gene	DOID:1115	sarcoma		ISO	RGD:734228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8744673	Itpr2	inositol 1,4,5-trisphosphate receptor type 2	gene	DOID:11714	gestational diabetes		ISO	RGD:734228	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
8744673	Itpr2	inositol 1,4,5-trisphosphate receptor type 2	gene	DOID:1324	lung cancer		ISO	RGD:734228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8744673	Itpr2	inositol 1,4,5-trisphosphate receptor type 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8744673	Itpr2	inositol 1,4,5-trisphosphate receptor type 2	gene	DOID:3275	thymoma		ISO	RGD:734228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8744673	Itpr2	inositol 1,4,5-trisphosphate receptor type 2	gene	DOID:332	amyotrophic lateral sclerosis	susceptibility	ISO	RGD:734228	D	RGD:9068941	20200609	RGD		DNA:snp:intron:g.26636386A>G rs2306677 (human)	PMID:17827064|REF_RGD_ID:6482791
8744673	Itpr2	inositol 1,4,5-trisphosphate receptor type 2	gene	DOID:4362	cervical cancer		ISO	RGD:734228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8744673	Itpr2	inositol 1,4,5-trisphosphate receptor type 2	gene	DOID:5041	esophageal cancer		ISO	RGD:734228	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8744673	Itpr2	inositol 1,4,5-trisphosphate receptor type 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8744673	Itpr2	inositol 1,4,5-trisphosphate receptor type 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8744673	Itpr2	inositol 1,4,5-trisphosphate receptor type 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:734228	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20616315
8744673	Itpr2	inositol 1,4,5-trisphosphate receptor type 2	gene	DOID:9004756	Brain Hypoxia		ISO	RGD:734228	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17285299
8744673	Itpr2	inositol 1,4,5-trisphosphate receptor type 2	gene	DOID:9004756	Brain Hypoxia		ISO	RGD:737250	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:cerebellum (mouse)	PMID:17285299|REF_RGD_ID:6482794
8744673	Itpr2	inositol 1,4,5-trisphosphate receptor type 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8744673	Itpr2	inositol 1,4,5-trisphosphate receptor type 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8744735	Hnrnph1	heterogeneous nuclear ribonucleoprotein H1	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1347066	D	RGD:9068941	20200609	RGD			PMID:19264855|REF_RGD_ID:10054311
8744735	Hnrnph1	heterogeneous nuclear ribonucleoprotein H1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347066	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (human)	PMID:23633480|REF_RGD_ID:9685423
8744735	Hnrnph1	heterogeneous nuclear ribonucleoprotein H1	gene	DOID:9001205	Experimental Autoimmune Orchitis		ISO	RGD:620840	D	RGD:9068941	20200609	RGD			PMID:16092147|REF_RGD_ID:1624236
8744735	Hnrnph1	heterogeneous nuclear ribonucleoprotein H1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1347066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17566973
8744735	Hnrnph1	heterogeneous nuclear ribonucleoprotein H1	gene	DOID:9006270	Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects		ISO	RGD:1347066	D	RGD:7240710	20221102	OMIM			
8744735	Hnrnph1	heterogeneous nuclear ribonucleoprotein H1	gene	DOID:9008443	Colorectal Neoplasms	severity	ISO	RGD:1347066	D	RGD:9068941	20200609	RGD		protein:decreased expression:colonic epithelium, nucleus (human)	PMID:21194727|REF_RGD_ID:9999439
8744759	Rhbdd2	rhomboid domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8744759	Rhbdd2	rhomboid domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8744759	Rhbdd2	rhomboid domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8744759	Rhbdd2	rhomboid domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1317887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8744759	Rhbdd2	rhomboid domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8744759	Rhbdd2	rhomboid domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8744759	Rhbdd2	rhomboid domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8744759	Rhbdd2	rhomboid domain containing 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1317887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8744759	Rhbdd2	rhomboid domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8744770	Plcd4	phospholipase C delta 4	gene	DOID:1115	sarcoma		ISO	RGD:1346447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8744770	Plcd4	phospholipase C delta 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8744770	Plcd4	phospholipase C delta 4	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1346447	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
8744770	Plcd4	phospholipase C delta 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8744770	Plcd4	phospholipase C delta 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8744796	Lgals4	galectin 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8744796	Lgals4	galectin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351726	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8744796	Lgals4	galectin 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1351726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8744796	Lgals4	galectin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8744823	Septin10	septin 10	gene	DOID:0080600	COVID-19		ISO	RGD:1606447	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8744839	Dagla	diacylglycerol lipase alpha	gene	DOID:0050741	alcohol dependence		ISO	RGD:1359461	D	RGD:9068941	20250531	RGD		mRNA:decreased expression:hippocampus (rat)	PMID:34965406|REF_RGD_ID:616363144
8744839	Dagla	diacylglycerol lipase alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8744839	Dagla	diacylglycerol lipase alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1343376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8744839	Dagla	diacylglycerol lipase alpha	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1343376	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADHD	
8744839	Dagla	diacylglycerol lipase alpha	gene	DOID:12849	autistic disorder		ISO	RGD:1343376	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
8744839	Dagla	diacylglycerol lipase alpha	gene	DOID:1324	lung cancer		ISO	RGD:1343376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8744839	Dagla	diacylglycerol lipase alpha	gene	DOID:1574	alcohol use disorder		ISO	RGD:1359461	D	RGD:9068941	20250529	RGD		mRNA:increased expression:hippocampus	PMID:32057593|REF_RGD_ID:405096486
8744839	Dagla	diacylglycerol lipase alpha	gene	DOID:1909	melanoma		ISO	RGD:1343376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8744839	Dagla	diacylglycerol lipase alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1343376	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8744839	Dagla	diacylglycerol lipase alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8744839	Dagla	diacylglycerol lipase alpha	gene	DOID:630	genetic disease		ISO	RGD:1343376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:35737950
8744839	Dagla	diacylglycerol lipase alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8744839	Dagla	diacylglycerol lipase alpha	gene	DOID:9006032	NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE		ISO	RGD:1343376	D	RGD:7240710	20240508	OMIM			
8744839	Dagla	diacylglycerol lipase alpha	gene	DOID:9006032	NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE		ISO	RGD:1343376	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DAGLA-related condition | ClinVar Annotator: match by term: NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE	PMID:25741868|PMID:28492532
8744839	Dagla	diacylglycerol lipase alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8744839	Dagla	diacylglycerol lipase alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8744839	Dagla	diacylglycerol lipase alpha	gene	DOID:9975	cocaine dependence		ISO	RGD:1359461	D	RGD:9068941	20250531	RGD		mRNA:increased ecxpression:pefrontal cortex (rat)	PMID:34965406|REF_RGD_ID:616363144
8744866	Slc22a3	solute carrier family 22 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8744866	Slc22a3	solute carrier family 22 member 3	gene	DOID:1115	sarcoma		ISO	RGD:1351828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8744866	Slc22a3	solute carrier family 22 member 3	gene	DOID:303	substance-related disorder		ISO	RGD:1351828	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17010131
8744866	Slc22a3	solute carrier family 22 member 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8744866	Slc22a3	solute carrier family 22 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8744866	Slc22a3	solute carrier family 22 member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351828	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8744866	Slc22a3	solute carrier family 22 member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8744866	Slc22a3	solute carrier family 22 member 3	gene	DOID:820	myocarditis		ISO	RGD:1351828	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21641380
8744866	Slc22a3	solute carrier family 22 member 3	gene	DOID:9000220	Coxsackievirus Infections		ISO	RGD:1351828	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21641380
8744866	Slc22a3	solute carrier family 22 member 3	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:735816	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney	PMID:23228442|REF_RGD_ID:7243178
8744866	Slc22a3	solute carrier family 22 member 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1351828	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17173048
8744866	Slc22a3	solute carrier family 22 member 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1351828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8744866	Slc22a3	solute carrier family 22 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8744866	Slc22a3	solute carrier family 22 member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8744866	Slc22a3	solute carrier family 22 member 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1351828	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
8744866	Slc22a3	solute carrier family 22 member 3	gene	DOID:9970	obesity		ISO	RGD:1351828	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27401566
8744887	Smyd1	SET and MYND domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8744887	Smyd1	SET and MYND domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1312941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8744887	Smyd1	SET and MYND domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:0050821	first-degree atrioventricular block		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: First degree atrioventricular block	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:0060260	ptosis		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:10907	microcephaly		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:1115	sarcoma		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:11162	respiratory failure		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:11396	pulmonary edema		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary edema	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:11502	mitral valve insufficiency		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral regurgitation	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:11714	gestational diabetes		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:118	pericardial effusion		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pericardial effusion	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:11914	gastroparesis		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroparesis	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:1324	lung cancer		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:13250	diarrhea		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:1681	heart septal defect	susceptibility	ISO	RGD:1319745	D	RGD:9068941	20200609	RGD		Atrioventricular septal defect;DNA:missense mutations	PMID:12632326|REF_RGD_ID:1600967
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1319745	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: congenital heart disease	PMID:25741868
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:1824	status epilepticus		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:1826	epilepsy		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:4080	tricuspid valve insufficiency		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tricuspid regurgitation	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319745	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:540	strabismus		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:630	genetic disease		ISO	RGD:1319745	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1319745	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868|PMID:28492532
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9001355	Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome		ISO	RGD:1319745	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME	PMID:28492532
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9001443	Hypercapnia		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercapnia	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9001581	Constipation		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9002809	Congenital Heart Defects, Multiple Types, 4		ISO	RGD:1319745	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4	
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9003132	Sialorrhea		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9003629	Jeffries-Lakhani Neurodevelopmental Syndrome		ISO	RGD:1319745	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: Jeffries-Lakhani neurodevelopmental syndrome	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9003629	Jeffries-Lakhani Neurodevelopmental Syndrome	susceptibility	ISO	RGD:1319745	D	RGD:7240710	20260729	OMIM			
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9003959	Ventricular Septal Defect 1		ISO	RGD:1319745	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect 1	
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9005883	Pleural Effusion		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pleural effusion	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9006924	Cardiogenic Shock		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiogenic shock	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9007001	Bradycardia		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9009051	Atrioventricular Septal Defect 2		ISO	RGD:1319745	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 | ClinVar Annotator: match by term: CRELD1-related condition	PMID:16199547|PMID:17576681|PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183|PMID:9536098
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9009051	Atrioventricular Septal Defect 2	susceptibility	ISO	RGD:1319745	D	RGD:7240710	20260729	OMIM			
8744909	Creld1	CRELD disulfide isomerase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8744929	Fibin	fin bud initiation factor homolog	gene	DOID:9775	diastolic heart failure		ISO	RGD:1606090	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
8744935	Cd320	CD320 molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352822	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8744935	Cd320	CD320 molecule	gene	DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect		ISO	RGD:1352822	D	RGD:7240710	20180130	OMIM			
8744935	Cd320	CD320 molecule	gene	DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect		ISO	RGD:1352822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT | ClinVar Annotator: match by term: Methylmalonic acidemia due to transcobalamin receptor defect	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8744935	Cd320	CD320 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8744950	Cp	ceruloplasmin	gene	DOID:0050711	aceruloplasminemia		ISO	RGD:736782	D	RGD:7240710	20180130	OMIM			
8744950	Cp	ceruloplasmin	gene	DOID:0050711	aceruloplasminemia		ISO	RGD:736782	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: ACERULOPLASMINEMIA | ClinVar Annotator: match by term: Aceruloplasminemia | ClinVar Annotator: match by term: CP-related condition | ClinVar Annotator: match by term: Deficiency of ferroxidase | ClinVar Annotator: match by term: Familial apoceruloplasmin deficiency | ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 10 | ClinVar Annotator: match by term: aceruloplasminemia	PMID:10997552|PMID:11909923|PMID:12351628|PMID:15082597|PMID:15557511|PMID:15885371|PMID:16150804|PMID:16199547|PMID:16629161|PMID:16775387|PMID:16831606|PMID:17013908|PMID:17576681|PMID:17710675|PMID:18293024|PMID:18408989|PMID:18414213|PMID:18675357|PMID:19095659|PMID:20301666|PMID:20655381|PMID:20981230|PMID:25247888|PMID:25741868|PMID:25758665|PMID:25864092|PMID:26777753|PMID:27753142|PMID:28012953|PMID:28431603|PMID:28492532|PMID:29482220|PMID:30901137|PMID:32019516|PMID:32235485|PMID:33513852|PMID:33774058|PMID:34023349|PMID:34347207|PMID:34828384|PMID:36595688|PMID:36686537|PMID:37024536|PMID:7539672|PMID:8789443|PMID:9536098
8744950	Cp	ceruloplasmin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8744950	Cp	ceruloplasmin	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736782	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8744950	Cp	ceruloplasmin	gene	DOID:0080855	Parkinsonism		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
8744950	Cp	ceruloplasmin	gene	DOID:0110734	neurodegeneration with brain iron accumulation		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iron accumulation in brain | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation	PMID:12351628|PMID:16629161|PMID:16775387|PMID:18408989|PMID:19095659|PMID:20655381|PMID:25089372|PMID:25741868|PMID:28012953|PMID:28492532|PMID:30901137|PMID:32235485|PMID:34014900|PMID:34347207|PMID:36595688
8744950	Cp	ceruloplasmin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
8744950	Cp	ceruloplasmin	gene	DOID:10591	pre-eclampsia		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18679377
8744950	Cp	ceruloplasmin	gene	DOID:11252	microcytic anemia		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcytic anemia	PMID:16199547|PMID:16629161|PMID:28492532|PMID:30901137|PMID:32235485|PMID:34347207
8744950	Cp	ceruloplasmin	gene	DOID:114	heart disease		ISO	RGD:2387	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:19188839|REF_RGD_ID:2314687
8744950	Cp	ceruloplasmin	gene	DOID:12119	hemosiderosis	susceptibility	ISO	RGD:736782	D	RGD:9068941	20200609	RGD		DNA:splice-site mutation	PMID:7539672|REF_RGD_ID:1599626
8744950	Cp	ceruloplasmin	gene	DOID:12849	autistic disorder		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15363659
8744950	Cp	ceruloplasmin	gene	DOID:1307	dementia		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12572680
8744950	Cp	ceruloplasmin	gene	DOID:1324	lung cancer		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8744950	Cp	ceruloplasmin	gene	DOID:13580	cholestasis		ISO	RGD:736782	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:29523470|REF_RGD_ID:14401716
8744950	Cp	ceruloplasmin	gene	DOID:14330	Parkinson's disease		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19159062|PMID:25758665
8744950	Cp	ceruloplasmin	gene	DOID:1596	depressive disorder		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
8744950	Cp	ceruloplasmin	gene	DOID:1838	Menkes disease		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22243965
8744950	Cp	ceruloplasmin	gene	DOID:1909	melanoma		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23792645
8744950	Cp	ceruloplasmin	gene	DOID:2030	anxiety disorder		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
8744950	Cp	ceruloplasmin	gene	DOID:2316	brain ischemia		ISO	RGD:2387	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:cerebral cortex, hippocampus	PMID:18273071|REF_RGD_ID:2314688
8744950	Cp	ceruloplasmin	gene	DOID:2351	iron metabolism disease		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16988052
8744950	Cp	ceruloplasmin	gene	DOID:2352	hemochromatosis		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17258727
8744950	Cp	ceruloplasmin	gene	DOID:3021	acute kidney failure		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
8744950	Cp	ceruloplasmin	gene	DOID:3070	high grade glioma		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:28492532
8744950	Cp	ceruloplasmin	gene	DOID:326	ischemia		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15668637|PMID:18091701
8744950	Cp	ceruloplasmin	gene	DOID:3275	thymoma		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8744950	Cp	ceruloplasmin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:25741868|PMID:28492532
8744950	Cp	ceruloplasmin	gene	DOID:418	systemic scleroderma		ISO	RGD:736782	D	RGD:9068941	20230923	RGD		protein:increased expression:serum	PMID:32630589|REF_RGD_ID:401827129
8744950	Cp	ceruloplasmin	gene	DOID:4362	cervical cancer		ISO	RGD:736782	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8744950	Cp	ceruloplasmin	gene	DOID:4724	brain edema		ISO	RGD:2387	D	RGD:9068941	20200609	RGD			PMID:16671455|REF_RGD_ID:1599627
8744950	Cp	ceruloplasmin	gene	DOID:480	movement disease		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
8744950	Cp	ceruloplasmin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8744950	Cp	ceruloplasmin	gene	DOID:5041	esophageal cancer		ISO	RGD:736782	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
8744950	Cp	ceruloplasmin	gene	DOID:5082	liver cirrhosis		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513|PMID:26396155
8744950	Cp	ceruloplasmin	gene	DOID:5113	nutritional deficiency disease		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12514262
8744950	Cp	ceruloplasmin	gene	DOID:5419	schizophrenia		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16842975
8744950	Cp	ceruloplasmin	gene	DOID:543	dystonia		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:16629161|PMID:25741868|PMID:28492532
8744950	Cp	ceruloplasmin	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868|PMID:28492532
8744950	Cp	ceruloplasmin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8744950	Cp	ceruloplasmin	gene	DOID:630	genetic disease		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
8744950	Cp	ceruloplasmin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8744950	Cp	ceruloplasmin	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26001728
8744950	Cp	ceruloplasmin	gene	DOID:7998	hyperthyroidism		ISO	RGD:2387	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18210749|REF_RGD_ID:2314689
8744950	Cp	ceruloplasmin	gene	DOID:8466	retinal degeneration		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12572680
8744950	Cp	ceruloplasmin	gene	DOID:8893	psoriasis		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12559600
8744950	Cp	ceruloplasmin	gene	DOID:893	Wilson disease		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22243965|PMID:23519153|PMID:7849148
8744950	Cp	ceruloplasmin	gene	DOID:893	Wilson disease		ISO	RGD:736782	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:18556333|REF_RGD_ID:14401715
8744950	Cp	ceruloplasmin	gene	DOID:893	Wilson disease	treatment	ISO	RGD:2387	D	RGD:9068941	20200609	RGD			PMID:15511628|REF_RGD_ID:1554300
8744950	Cp	ceruloplasmin	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
8744950	Cp	ceruloplasmin	gene	DOID:9000495	Tremor		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
8744950	Cp	ceruloplasmin	gene	DOID:9000722	Animal Hepatitis		ISO	RGD:2387	D	RGD:9068941	20200609	RGD		protein:increased expression:lymph, plasma	PMID:19526092|REF_RGD_ID:2314684
8744950	Cp	ceruloplasmin	gene	DOID:9001480	Muscle Rigidity		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cogwheel rigidity	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
8744950	Cp	ceruloplasmin	gene	DOID:9001542	Albuminuria		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21752484
8744950	Cp	ceruloplasmin	gene	DOID:9001581	Constipation		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
8744950	Cp	ceruloplasmin	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23792645
8744950	Cp	ceruloplasmin	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:736782	D	RGD:9068941	20230923	RGD		associated with systemic scleroderma;protein:increased expression:serum	PMID:32630589|REF_RGD_ID:401827129
8744950	Cp	ceruloplasmin	gene	DOID:9002362	Hyperkinesis		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkinetic movements	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
8744950	Cp	ceruloplasmin	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2387	D	RGD:9068941	20200609	RGD			PMID:19205849|REF_RGD_ID:2314686
8744950	Cp	ceruloplasmin	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19330884
8744950	Cp	ceruloplasmin	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mental deterioration	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
8744950	Cp	ceruloplasmin	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23792645
8744950	Cp	ceruloplasmin	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18804145
8744950	Cp	ceruloplasmin	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868|PMID:28492532
8744950	Cp	ceruloplasmin	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:2387	D	RGD:9068941	20200609	RGD		mRNA:increased expression:thyroid gland	PMID:19298605|REF_RGD_ID:2314685
8744950	Cp	ceruloplasmin	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
8744950	Cp	ceruloplasmin	gene	DOID:9004866	Ataxia		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12572680
8744950	Cp	ceruloplasmin	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:28492532
8744950	Cp	ceruloplasmin	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2387	D	RGD:9068941	20200609	RGD		Protein:increased expression:plasma	PMID:16947119|REF_RGD_ID:1599198
8744950	Cp	ceruloplasmin	gene	DOID:9005725	Iron Overload		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20801540
8744950	Cp	ceruloplasmin	gene	DOID:9006617	Fatigue		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
8744950	Cp	ceruloplasmin	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
8744950	Cp	ceruloplasmin	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
8744950	Cp	ceruloplasmin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8744950	Cp	ceruloplasmin	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8744950	Cp	ceruloplasmin	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25053573
8744950	Cp	ceruloplasmin	gene	DOID:9008675	Dyskinesias		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12572680
8744950	Cp	ceruloplasmin	gene	DOID:9008746	Pasteurellaceae Infections		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16755360
8744950	Cp	ceruloplasmin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8744950	Cp	ceruloplasmin	gene	DOID:9351	diabetes mellitus		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:16199547|PMID:16629161|PMID:28492532|PMID:30901137|PMID:32235485|PMID:34347207
8744950	Cp	ceruloplasmin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736782	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19834873|REF_RGD_ID:2314681
8744950	Cp	ceruloplasmin	gene	DOID:936	brain disease		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19005224
8744950	Cp	ceruloplasmin	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20012460
8744950	Cp	ceruloplasmin	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:736782	D	RGD:9068941	20200609	RGD			PMID:17603912|REF_RGD_ID:2314682
8744987	Slc36a3	solute carrier family 36 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8744987	Slc36a3	solute carrier family 36 member 3	gene	DOID:1909	melanoma		ISO	RGD:1319236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8744987	Slc36a3	solute carrier family 36 member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8745001	Slc6a12	solute carrier family 6 member 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8745001	Slc6a12	solute carrier family 6 member 12	gene	DOID:10534	stomach cancer		ISO	RGD:731509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8745001	Slc6a12	solute carrier family 6 member 12	gene	DOID:1115	sarcoma		ISO	RGD:731509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8745001	Slc6a12	solute carrier family 6 member 12	gene	DOID:1324	lung cancer		ISO	RGD:731509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8745001	Slc6a12	solute carrier family 6 member 12	gene	DOID:3275	thymoma		ISO	RGD:731509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8745001	Slc6a12	solute carrier family 6 member 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745001	Slc6a12	solute carrier family 6 member 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8745001	Slc6a12	solute carrier family 6 member 12	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:731509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26213588
8745001	Slc6a12	solute carrier family 6 member 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8745040	Cxcl13	C-X-C motif chemokine ligand 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8745040	Cxcl13	C-X-C motif chemokine ligand 13	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1342514	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:23056237
8745040	Cxcl13	C-X-C motif chemokine ligand 13	gene	DOID:289	endometriosis		ISO	RGD:1342514	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30579999
8745040	Cxcl13	C-X-C motif chemokine ligand 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745040	Cxcl13	C-X-C motif chemokine ligand 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8745040	Cxcl13	C-X-C motif chemokine ligand 13	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1342514	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8745040	Cxcl13	C-X-C motif chemokine ligand 13	gene	DOID:9002801	Recurrence		ISO	RGD:1342514	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22607768
8745040	Cxcl13	C-X-C motif chemokine ligand 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8745055	Fhl5	four and a half LIM domains 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8745055	Fhl5	four and a half LIM domains 5	gene	DOID:6364	migraine		ISO	RGD:1316022	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23793025
8745069	Mrpl51	mitochondrial ribosomal protein L51	gene	DOID:0080600	COVID-19		ISO	RGD:1315444	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8745069	Mrpl51	mitochondrial ribosomal protein L51	gene	DOID:5041	esophageal cancer		ISO	RGD:1315444	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8745069	Mrpl51	mitochondrial ribosomal protein L51	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745069	Mrpl51	mitochondrial ribosomal protein L51	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8745076	Rab3d	RAB3D, member RAS oncogene family	gene	DOID:1909	melanoma		ISO	RGD:736647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8745076	Rab3d	RAB3D, member RAS oncogene family	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8745085	Kcna7	potassium voltage-gated channel subfamily A member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8745085	Kcna7	potassium voltage-gated channel subfamily A member 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8745085	Kcna7	potassium voltage-gated channel subfamily A member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8745090	Nudt22	nudix hydrolase 22	gene	DOID:10534	stomach cancer		ISO	RGD:1601846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8745090	Nudt22	nudix hydrolase 22	gene	DOID:1909	melanoma		ISO	RGD:1601846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8745090	Nudt22	nudix hydrolase 22	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8745090	Nudt22	nudix hydrolase 22	gene	DOID:4362	cervical cancer		ISO	RGD:1601846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8745101	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8745101	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1604300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8745101	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8745101	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1604300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8745101	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1604300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8745101	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8745101	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1604300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8745101	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1604300	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8745101	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745101	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8745101	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8745101	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:0060469	Miller-Dieker lissencephaly syndrome		ISO	RGD:1350802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Miller Dieker syndrome	PMID:25741868
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:0060480	left ventricular noncompaction		ISO	RGD:62292	D	RGD:9068941	20220825	MouseDO		OMIM:604169	
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1350802	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:10534	stomach cancer		ISO	RGD:1350802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:1059	intellectual disability		ISO	RGD:1350802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:1115	sarcoma		ISO	RGD:1350802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1350802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:25741868
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:1324	lung cancer		ISO	RGD:1350802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:1909	melanoma		ISO	RGD:1350802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:3275	thymoma		ISO	RGD:1350802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1350802	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085005
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1350802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:9003816	Macrocephaly		ISO	RGD:1350802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:9007661	Dwarfism		ISO	RGD:1350802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8745129	Ywhae	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	gene	DOID:9970	obesity		ISO	RGD:1350802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
8745142	Cep78	centrosomal protein 78	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8745142	Cep78	centrosomal protein 78	gene	DOID:0080600	COVID-19		ISO	RGD:1346976	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8745142	Cep78	centrosomal protein 78	gene	DOID:0110867	congenital stationary night blindness 1C		ISO	RGD:1346976	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness 1C	PMID:25741868
8745142	Cep78	centrosomal protein 78	gene	DOID:10534	stomach cancer		ISO	RGD:1346976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8745142	Cep78	centrosomal protein 78	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1346976	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868
8745142	Cep78	centrosomal protein 78	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8745142	Cep78	centrosomal protein 78	gene	DOID:3275	thymoma		ISO	RGD:1346976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8745142	Cep78	centrosomal protein 78	gene	DOID:4362	cervical cancer		ISO	RGD:1346976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8745142	Cep78	centrosomal protein 78	gene	DOID:5041	esophageal cancer		ISO	RGD:1346976	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8745142	Cep78	centrosomal protein 78	gene	DOID:5723	optic atrophy		ISO	RGD:1346976	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8745142	Cep78	centrosomal protein 78	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745142	Cep78	centrosomal protein 78	gene	DOID:630	genetic disease		ISO	RGD:1346976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8745142	Cep78	centrosomal protein 78	gene	DOID:8501	fundus dystrophy		ISO	RGD:1346976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:24033266|PMID:25741868|PMID:27588451|PMID:27588452|PMID:27627988|PMID:28492532|PMID:30096381|PMID:30484961|PMID:30664616|PMID:3196484|PMID:31964843|PMID:31999394|PMID:32531858|PMID:33879512|PMID:34223797|PMID:34758253|PMID:35240912|PMID:37734845|PMID:38523675|PMID:38780195
8745142	Cep78	centrosomal protein 78	gene	DOID:9000376	Cone-Rod Dystrophy and Hearing Loss 1		ISO	RGD:1346976	D	RGD:7240710	20220105	OMIM			
8745142	Cep78	centrosomal protein 78	gene	DOID:9000376	Cone-Rod Dystrophy and Hearing Loss 1		ISO	RGD:1346976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CEP78-related condition | ClinVar Annotator: match by term: CONE-ROD DYSTROPHY AND HEARING LOSS 1 | ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 1	PMID:17576681|PMID:24033266|PMID:25741868|PMID:27588451|PMID:27588452|PMID:27627988|PMID:28492532|PMID:28559085|PMID:32531858|PMID:33879512|PMID:34130719|PMID:34223797|PMID:35240912|PMID:37734845|PMID:38780195|PMID:38927562|PMID:9536098
8745142	Cep78	centrosomal protein 78	gene	DOID:9000732	Cone-Rod Dystrophy and Hearing Loss		ISO	RGD:1346976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss	PMID:25741868
8745142	Cep78	centrosomal protein 78	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8745142	Cep78	centrosomal protein 78	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8745165	Rcor2	REST corepressor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8745165	Rcor2	REST corepressor 2	gene	DOID:1115	sarcoma		ISO	RGD:1353932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8745165	Rcor2	REST corepressor 2	gene	DOID:1909	melanoma		ISO	RGD:1353932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8745165	Rcor2	REST corepressor 2	gene	DOID:3275	thymoma		ISO	RGD:1353932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8745165	Rcor2	REST corepressor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745165	Rcor2	REST corepressor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8745195	Nemp2	nuclear envelope integral membrane protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2293905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8745195	Nemp2	nuclear envelope integral membrane protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:2293905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8745195	Nemp2	nuclear envelope integral membrane protein 2	gene	DOID:1115	sarcoma		ISO	RGD:2293905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8745195	Nemp2	nuclear envelope integral membrane protein 2	gene	DOID:3275	thymoma		ISO	RGD:2293905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8745195	Nemp2	nuclear envelope integral membrane protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:2293905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8745195	Nemp2	nuclear envelope integral membrane protein 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:2293905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8745195	Nemp2	nuclear envelope integral membrane protein 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2293905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8745207	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8745207	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:0112311	male infertility due to acephalic spermatozoa		ISO	RGD:1307488	D	RGD:9068941	20211112	RGD		DNA:insertion:intron 10 (rat)	PMID:19710508|REF_RGD_ID:150521555
8745207	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:10534	stomach cancer		ISO	RGD:1603924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8745207	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8745207	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:1115	sarcoma		ISO	RGD:1603924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8745207	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1603924	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8745207	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:1324	lung cancer		ISO	RGD:1603924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8745207	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:3275	thymoma		ISO	RGD:1603924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8745207	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:4362	cervical cancer		ISO	RGD:1603924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8745207	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1603924	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8745207	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745207	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8745207	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8745207	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8745245	Vamp5	vesicle associated membrane protein 5	gene	DOID:3393	coronary artery disease		ISO	RGD:1350486	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:34961328
8745245	Vamp5	vesicle associated membrane protein 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8745245	Vamp5	vesicle associated membrane protein 5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1350486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8745245	Vamp5	vesicle associated membrane protein 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8745259	Arhgap11a	Rho GTPase activating protein 11A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8745275	P2ry12	purinergic receptor P2Y12	gene	DOID:0050830	peripheral artery disease		ISO	RGD:1354000	D	RGD:9068941	20200609	RGD			PMID:14662702|REF_RGD_ID:1580188
8745275	P2ry12	purinergic receptor P2Y12	gene	DOID:0060692	platelet-type bleeding disorder 8		ISO	RGD:1354000	D	RGD:7240710	20180130	OMIM			
8745275	P2ry12	purinergic receptor P2Y12	gene	DOID:0060903	thrombosis		ISO	RGD:1354000	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17334511
8745275	P2ry12	purinergic receptor P2Y12	gene	DOID:0060903	thrombosis		ISO	RGD:621681	D	RGD:9068941	20200609	RGD			PMID:19692114|REF_RGD_ID:6480647
8745275	P2ry12	purinergic receptor P2Y12	gene	DOID:0060903	thrombosis		ISO	RGD:733568	D	RGD:9068941	20200609	RGD			PMID:12897207|REF_RGD_ID:1580187
8745275	P2ry12	purinergic receptor P2Y12	gene	DOID:1588	thrombocytopenia		ISO	RGD:733568	D	RGD:9068941	20200609	RGD		associated with Thrombosis	PMID:21652673|REF_RGD_ID:6480523
8745275	P2ry12	purinergic receptor P2Y12	gene	DOID:2349	arteriosclerosis		ISO	RGD:733568	D	RGD:9068941	20200609	RGD			PMID:19295309|REF_RGD_ID:6480535
8745275	P2ry12	purinergic receptor P2Y12	gene	DOID:2841	asthma		ISO	RGD:1354000	D	RGD:9068941	20200609	RGD			PMID:22010907|REF_RGD_ID:6480532
8745275	P2ry12	purinergic receptor P2Y12	gene	DOID:2841	asthma		ISO	RGD:733568	D	RGD:9068941	20200609	RGD			PMID:19822647|REF_RGD_ID:6480533
8745275	P2ry12	purinergic receptor P2Y12	gene	DOID:5844	myocardial infarction		ISO	RGD:1354000	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19334620
8745275	P2ry12	purinergic receptor P2Y12	gene	DOID:6713	cerebrovascular disease		ISO	RGD:1354000	D	RGD:9068941	20200609	RGD		associated with Peripheral Arterial Disease;DNA:polymorphism:exon:34C>T (human)	PMID:15933261|REF_RGD_ID:1580189
8745275	P2ry12	purinergic receptor P2Y12	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:621681	D	RGD:9068941	20200609	RGD			PMID:19028049|REF_RGD_ID:6480528
8745275	P2ry12	purinergic receptor P2Y12	gene	DOID:9002211	Hyperalgesia		ISO	RGD:621681	D	RGD:9068941	20200609	RGD			PMID:20136836|REF_RGD_ID:6480526
8745275	P2ry12	purinergic receptor P2Y12	gene	DOID:9002211	Hyperalgesia		ISO	RGD:733568	D	RGD:9068941	20200609	RGD			PMID:20398327|REF_RGD_ID:6480525
8745275	P2ry12	purinergic receptor P2Y12	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:621681	D	RGD:9068941	20200609	RGD			PMID:22028806|REF_RGD_ID:6480518
8745275	P2ry12	purinergic receptor P2Y12	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:621681	D	RGD:9068941	20200609	RGD		associated with Shock, Hemorrhagic	PMID:21841533|REF_RGD_ID:6480522
8745275	P2ry12	purinergic receptor P2Y12	gene	DOID:9005968	Neuralgia		ISO	RGD:621681	D	RGD:9068941	20200609	RGD			PMID:20665560|REF_RGD_ID:6480524
8745275	P2ry12	purinergic receptor P2Y12	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1354000	D	RGD:9068941	20200609	RGD			PMID:20431845|REF_RGD_ID:6480645
8745275	P2ry12	purinergic receptor P2Y12	gene	DOID:9008217	Hemorrhage		ISO	RGD:1354000	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11196645
8745275	P2ry12	purinergic receptor P2Y12	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1354000	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15304052
8745275	P2ry12	purinergic receptor P2Y12	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1354000	D	RGD:9068941	20200609	RGD			PMID:15304052|REF_RGD_ID:6480537
8745275	P2ry12	purinergic receptor P2Y12	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1354000	D	RGD:9068941	20200609	RGD			PMID:15483100|REF_RGD_ID:6480536
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1317926	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18716850
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:0050742	nicotine dependence		ISO	RGD:1317926	D	RGD:9068941	20241024	RGD		DNA:hypermethylation:promoter, blood	PMID:35170441|REF_RGD_ID:407987268
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:0061143	complex cortical dysplasia with other brain malformations 10		ISO	RGD:1317926	D	RGD:7240710	20191211	OMIM			
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:0061143	complex cortical dysplasia with other brain malformations 10		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 | ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 10	PMID:25189415|PMID:25741868|PMID:25753423|PMID:28492532|PMID:31510873|PMID:31585108|PMID:32766464|PMID:34063511
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:0081218	autosomal recessive intellectual developmental disorder 74		ISO	RGD:1317926	D	RGD:7240710	20240306	OMIM			
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:0081218	autosomal recessive intellectual developmental disorder 74		ISO	RGD:1317926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 74 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 74	PMID:25189415|PMID:25741868|PMID:28492532|PMID:31510873|PMID:31585108|PMID:32766464|PMID:33161245|PMID:34063511
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:0090137	complex cortical dysplasia with other brain malformations 1		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 1	PMID:25741868
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:0112104	Sotos syndrome 3		ISO	RGD:1317926	D	RGD:7240710	20190315	OMIM			
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:0112104	Sotos syndrome 3		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: APC2-related condition | ClinVar Annotator: match by term: Sotos syndrome 3	PMID:25189415|PMID:25741868|PMID:28492532|PMID:31510873|PMID:32766464|PMID:34063511
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:1115	sarcoma		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:1317926	D	RGD:9068941	20241024	RGD		DNA, mRNA, protein:hypermethylation, decreased expression:brain	PMID:31239533|REF_RGD_ID:407987270
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:1826	epilepsy		ISO	RGD:1317926	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:3275	thymoma		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317926	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:630	genetic disease		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25189415|PMID:25741868|PMID:28492532|PMID:31510873|PMID:31585108|PMID:32766464|PMID:34063511
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:674	cleft palate		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cleft palate	PMID:32641753
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:8927	learning disability		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:28492532
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1317926	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500|PMID:18716850|PMID:21278247
8745287	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1317926	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
8745311	Ino80	INO80 complex ATPase subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8745311	Ino80	INO80 complex ATPase subunit	gene	DOID:0070297	primary microcephaly		ISO	RGD:1607029	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25558065|PMID:25741868
8745311	Ino80	INO80 complex ATPase subunit	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
8745311	Ino80	INO80 complex ATPase subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8745311	Ino80	INO80 complex ATPase subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8745311	Ino80	INO80 complex ATPase subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8745311	Ino80	INO80 complex ATPase subunit	gene	DOID:1115	sarcoma		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8745311	Ino80	INO80 complex ATPase subunit	gene	DOID:12849	autistic disorder		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
8745311	Ino80	INO80 complex ATPase subunit	gene	DOID:1324	lung cancer		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8745311	Ino80	INO80 complex ATPase subunit	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8745311	Ino80	INO80 complex ATPase subunit	gene	DOID:1826	epilepsy		ISO	RGD:1607029	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25558065|PMID:25741868
8745311	Ino80	INO80 complex ATPase subunit	gene	DOID:3070	high grade glioma		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8745311	Ino80	INO80 complex ATPase subunit	gene	DOID:3275	thymoma		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8745311	Ino80	INO80 complex ATPase subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8745311	Ino80	INO80 complex ATPase subunit	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8745311	Ino80	INO80 complex ATPase subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8745311	Ino80	INO80 complex ATPase subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1607029	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8745311	Ino80	INO80 complex ATPase subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745311	Ino80	INO80 complex ATPase subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8745311	Ino80	INO80 complex ATPase subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8745311	Ino80	INO80 complex ATPase subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8745311	Ino80	INO80 complex ATPase subunit	gene	DOID:9220	central sleep apnea		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea, central sleep	PMID:25741868
8745354	Mgam2	maltase-glucoamylase 2 (putative)	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:9849972	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
8745406	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:0050742	nicotine dependence		ISO	RGD:1321123	D	RGD:9068941	20241107	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
8745406	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8745406	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:10283	prostate cancer		ISO	RGD:1321123	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8745406	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:10283	prostate cancer		ISO	RGD:1321123	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8745406	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:10534	stomach cancer		ISO	RGD:1321123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8745406	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8745406	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:1115	sarcoma		ISO	RGD:1321123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8745406	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:1324	lung cancer		ISO	RGD:1321123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8745406	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:1909	melanoma		ISO	RGD:1321123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8745406	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8745406	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745406	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8745406	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8745432	Slc4a9	solute carrier family 4 member 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:730837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8745432	Slc4a9	solute carrier family 4 member 9	gene	DOID:1324	lung cancer		ISO	RGD:730837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8745432	Slc4a9	solute carrier family 4 member 9	gene	DOID:4362	cervical cancer		ISO	RGD:730837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8745432	Slc4a9	solute carrier family 4 member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745432	Slc4a9	solute carrier family 4 member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8745432	Slc4a9	solute carrier family 4 member 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8745460	Znf131	zinc finger protein 131	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8745460	Znf131	zinc finger protein 131	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8745460	Znf131	zinc finger protein 131	gene	DOID:5041	esophageal cancer		ISO	RGD:1353025	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8745460	Znf131	zinc finger protein 131	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8745488	Rfx6	regulatory factor X6	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:1316716	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Maturity-onset diabetes of the young	PMID:25741868|PMID:29026101|PMID:31001871
8745488	Rfx6	regulatory factor X6	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1316716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
8745488	Rfx6	regulatory factor X6	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1316716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	
8745488	Rfx6	regulatory factor X6	gene	DOID:1826	epilepsy		ISO	RGD:1316716	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Epilepsy	
8745488	Rfx6	regulatory factor X6	gene	DOID:1909	melanoma		ISO	RGD:1316716	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
8745488	Rfx6	regulatory factor X6	gene	DOID:3275	thymoma		ISO	RGD:1316716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8745488	Rfx6	regulatory factor X6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745488	Rfx6	regulatory factor X6	gene	DOID:630	genetic disease		ISO	RGD:1316716	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8745488	Rfx6	regulatory factor X6	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1316716	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24390282
8745488	Rfx6	regulatory factor X6	gene	DOID:9006077	Martinez-Frias Syndrome		ISO	RGD:1316716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA	PMID:25741868|PMID:28492532
8745488	Rfx6	regulatory factor X6	gene	DOID:9007412	Mitchell-Riley Syndrome		ISO	RGD:1316716	D	RGD:7240710	20180130	OMIM			
8745488	Rfx6	regulatory factor X6	gene	DOID:9007412	Mitchell-Riley Syndrome		ISO	RGD:1316716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITCHELL-RILEY SYNDROME | ClinVar Annotator: match by term: Mitchell-Riley syndrome | ClinVar Annotator: match by term: RFX6-related condition	PMID:18414213|PMID:20148032|PMID:21215266|PMID:25741868|PMID:26559129|PMID:26770845|PMID:28492532|PMID:35307919|PMID:35813646|PMID:36208030
8745488	Rfx6	regulatory factor X6	gene	DOID:9351	diabetes mellitus		ISO	RGD:1316716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes | ClinVar Annotator: match by term: monogenic diabetes	PMID:18414213|PMID:25741868|PMID:28492532|PMID:29026101
8745488	Rfx6	regulatory factor X6	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1316716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
8745512	Zscan29	zinc finger and SCAN domain containing 29	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8745512	Zscan29	zinc finger and SCAN domain containing 29	gene	DOID:3275	thymoma		ISO	RGD:1605867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8745512	Zscan29	zinc finger and SCAN domain containing 29	gene	DOID:5041	esophageal cancer		ISO	RGD:1605867	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8745512	Zscan29	zinc finger and SCAN domain containing 29	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8745512	Zscan29	zinc finger and SCAN domain containing 29	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8745512	Zscan29	zinc finger and SCAN domain containing 29	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8745531	Cidea	cell death inducing DFFA like effector a	gene	DOID:10534	stomach cancer		ISO	RGD:1312942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8745531	Cidea	cell death inducing DFFA like effector a	gene	DOID:6000	congestive heart failure		ISO	RGD:1312942	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26670611
8745531	Cidea	cell death inducing DFFA like effector a	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1312942	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8745531	Cidea	cell death inducing DFFA like effector a	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8745531	Cidea	cell death inducing DFFA like effector a	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1312942	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25058030|PMID:28108177
8745531	Cidea	cell death inducing DFFA like effector a	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8745531	Cidea	cell death inducing DFFA like effector a	gene	DOID:9970	obesity		ISO	RGD:1312942	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20975297
8745531	Cidea	cell death inducing DFFA like effector a	gene	DOID:9970	obesity		ISO	RGD:1312942	D	RGD:9068941	20200609	RGD		protein:amino acid substitution:V115F	PMID:16186410|REF_RGD_ID:1625390
8745539	Krt2	keratin 2	gene	DOID:0060877	bullous congenital ichthyosiform erythroderma		ISO	RGD:1342754	D	RGD:7240710	20180130	OMIM			
8745539	Krt2	keratin 2	gene	DOID:0060877	bullous congenital ichthyosiform erythroderma		ISO	RGD:1342754	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ICHTHYOSIS BULLOSA OF SIEMENS | ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens | ClinVar Annotator: match by term: KRT2-related condition | ClinVar Annotator: match by term: Superficial epidermolytic ichthyosis	PMID:25741868|PMID:26581228|PMID:28492532|PMID:29444371|PMID:31953843|PMID:35887135|PMID:39434542
8745539	Krt2	keratin 2	gene	DOID:0070523	peeling skin syndrome 4		ISO	RGD:1342754	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Exfoliative ichthyosis	PMID:25741868|PMID:26581228|PMID:28492532|PMID:29444371|PMID:31953843|PMID:35887135|PMID:39434542
8745539	Krt2	keratin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1342754	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8745539	Krt2	keratin 2	gene	DOID:1115	sarcoma		ISO	RGD:1342754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8745539	Krt2	keratin 2	gene	DOID:1697	ichthyosis	susceptibility	ISO	RGD:1342754	D	RGD:9068941	20200609	RGD		DNA:mutations	PMID:7524919|REF_RGD_ID:1600192
8745539	Krt2	keratin 2	gene	DOID:2773	contact dermatitis		ISO	RGD:1342754	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
8745539	Krt2	keratin 2	gene	DOID:3275	thymoma		ISO	RGD:1342754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8745539	Krt2	keratin 2	gene	DOID:3390	palmoplantar keratosis		ISO	RGD:1342754	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Palmoplantar keratodermas	
8745539	Krt2	keratin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1342754	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8745539	Krt2	keratin 2	gene	DOID:630	genetic disease		ISO	RGD:1342754	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8745539	Krt2	keratin 2	gene	DOID:9004728	Ichthyosis Exfoliativa		ISO	RGD:1342754	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Exfoliative ichthyosis	PMID:25741868|PMID:26581228|PMID:28492532|PMID:29444371|PMID:31953843|PMID:35887135|PMID:39434542
8745555	Hpse2	heparanase 2 (inactive)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8745555	Hpse2	heparanase 2 (inactive)	gene	DOID:0050816	urofacial syndrome		ISO	RGD:1317455	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Ochoa syndrome	PMID:16199547|PMID:20560210|PMID:25145936|PMID:25510506|PMID:25741868|PMID:28492532
8745555	Hpse2	heparanase 2 (inactive)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8745555	Hpse2	heparanase 2 (inactive)	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8745555	Hpse2	heparanase 2 (inactive)	gene	DOID:1115	sarcoma		ISO	RGD:1317455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8745555	Hpse2	heparanase 2 (inactive)	gene	DOID:1324	lung cancer		ISO	RGD:1317455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8745555	Hpse2	heparanase 2 (inactive)	gene	DOID:4362	cervical cancer		ISO	RGD:1317455	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8745555	Hpse2	heparanase 2 (inactive)	gene	DOID:5041	esophageal cancer		ISO	RGD:1317455	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8745555	Hpse2	heparanase 2 (inactive)	gene	DOID:630	genetic disease		ISO	RGD:1317455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8745555	Hpse2	heparanase 2 (inactive)	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8745555	Hpse2	heparanase 2 (inactive)	gene	DOID:9006560	Urofacial Syndrome 1		ISO	RGD:1317455	D	RGD:7240710	20180221	OMIM			
8745555	Hpse2	heparanase 2 (inactive)	gene	DOID:9006560	Urofacial Syndrome 1		ISO	RGD:1317455	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HPSE2-related condition | ClinVar Annotator: match by term: UROFACIAL SYNDROME 1 | ClinVar Annotator: match by term: Urofacial syndrome type 1	PMID:16199547|PMID:20560209|PMID:20560210|PMID:21332471|PMID:25510506|PMID:25741868|PMID:27151922|PMID:28492532|PMID:30143558
8745555	Hpse2	heparanase 2 (inactive)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8745588	Rps28	ribosomal protein S28	gene	DOID:0111894	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		ISO	RGD:735338	D	RGD:7240710	20180130	OMIM			
8745588	Rps28	ribosomal protein S28	gene	DOID:0111894	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		ISO	RGD:735338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS | ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | ClinVar Annotator: match by term: RPS28-related condition	PMID:24942156|PMID:25741868|PMID:28492532|PMID:35295078|PMID:40135709
8745588	Rps28	ribosomal protein S28	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:735338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia	
8745588	Rps28	ribosomal protein S28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745588	Rps28	ribosomal protein S28	gene	DOID:9004657	Weight Gain		ISO	RGD:735338	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8745595	Cpa4	carboxypeptidase A4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8745595	Cpa4	carboxypeptidase A4	gene	DOID:3275	thymoma		ISO	RGD:1345742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8745595	Cpa4	carboxypeptidase A4	gene	DOID:4362	cervical cancer		ISO	RGD:1345742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8745595	Cpa4	carboxypeptidase A4	gene	DOID:5041	esophageal cancer		ISO	RGD:1345742	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8745595	Cpa4	carboxypeptidase A4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745595	Cpa4	carboxypeptidase A4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8745595	Cpa4	carboxypeptidase A4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8745595	Cpa4	carboxypeptidase A4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8745613	Nup160	nucleoporin 160	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8745613	Nup160	nucleoporin 160	gene	DOID:0080394	nephrotic syndrome type 19		ISO	RGD:1322303	D	RGD:7240710	20190315	OMIM			
8745613	Nup160	nucleoporin 160	gene	DOID:0080394	nephrotic syndrome type 19		ISO	RGD:1322303	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: NUP160-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 19	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30179222|PMID:9536098
8745613	Nup160	nucleoporin 160	gene	DOID:10534	stomach cancer		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8745613	Nup160	nucleoporin 160	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8745613	Nup160	nucleoporin 160	gene	DOID:1115	sarcoma		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8745613	Nup160	nucleoporin 160	gene	DOID:1324	lung cancer		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8745613	Nup160	nucleoporin 160	gene	DOID:13533	osteopetrosis		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopetrosis	PMID:25741868
8745613	Nup160	nucleoporin 160	gene	DOID:1909	melanoma		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8745613	Nup160	nucleoporin 160	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8745613	Nup160	nucleoporin 160	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8745613	Nup160	nucleoporin 160	gene	DOID:4362	cervical cancer		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8745613	Nup160	nucleoporin 160	gene	DOID:5041	esophageal cancer		ISO	RGD:1322303	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8745613	Nup160	nucleoporin 160	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745613	Nup160	nucleoporin 160	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8745613	Nup160	nucleoporin 160	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8745613	Nup160	nucleoporin 160	gene	DOID:9003566	Mesothelioma		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8745613	Nup160	nucleoporin 160	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8745613	Nup160	nucleoporin 160	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:0050722	PHGDH deficiency		ISO	RGD:737224	D	RGD:7240710	20180130	OMIM			
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:0050722	PHGDH deficiency		ISO	RGD:737224	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PHGDH deficiency | ClinVar Annotator: match by term: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY | ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency	PMID:11055895|PMID:11751922|PMID:14645240|PMID:16199547|PMID:17576681|PMID:19235232|PMID:20196394|PMID:21113737|PMID:22393170|PMID:22886422|PMID:23564319|PMID:24836451|PMID:25152457|PMID:25741868|PMID:25913727|PMID:26467025|PMID:26610677|PMID:28135894|PMID:28252636|PMID:28440900|PMID:28492532|PMID:28903583|PMID:29018476|PMID:29286531|PMID:29703746|PMID:30348640|PMID:30838783|PMID:32404165|PMID:32579715|PMID:33087887|PMID:33565074|PMID:33726816|PMID:33753166|PMID:33758422|PMID:34055682|PMID:35587316|PMID:36066546|PMID:36163279|PMID:37650587|PMID:37653029|PMID:37758168|PMID:38807256|PMID:39638571|PMID:9536098
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:0060058	lymphoma		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:0070297	primary microcephaly		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:14645240|PMID:16199547|PMID:24836451|PMID:25741868|PMID:28492532|PMID:29286531|PMID:29703746
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:0080076	Neu-Laxova syndrome 1		ISO	RGD:737224	D	RGD:7240710	20180130	OMIM			
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:0080076	Neu-Laxova syndrome 1		ISO	RGD:737224	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEU-LAXOVA SYNDROME 1 | ClinVar Annotator: match by term: Neu-Laxova syndrome 1 | ClinVar Annotator: match by term: PHGDH-related disorder	PMID:14645240|PMID:16199547|PMID:19235232|PMID:20196394|PMID:22393170|PMID:22886422|PMID:24836451|PMID:25152457|PMID:25741868|PMID:26467025|PMID:26610677|PMID:28492532|PMID:29286531|PMID:29703746|PMID:33753166|PMID:33758422|PMID:36163279|PMID:37115691|PMID:37653029|PMID:37758168|PMID:38807256|PMID:39191258
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:10534	stomach cancer		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:1115	sarcoma		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:1324	lung cancer		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:14264	benign neonatal seizures		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal seizure	PMID:14645240|PMID:16199547|PMID:24836451|PMID:25741868|PMID:28492532|PMID:29286531|PMID:29703746
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:1826	epilepsy		ISO	RGD:737224	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:14645240|PMID:16199547|PMID:24836451|PMID:25741868|PMID:28492532|PMID:29286531|PMID:29703746
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:1827	generalized epilepsy		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:14645240|PMID:16199547|PMID:24836451|PMID:25741868|PMID:28492532|PMID:29286531|PMID:29703746
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:1909	melanoma		ISO	RGD:737224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21804546
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:2394	ovarian cancer		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:2736	Hajdu-Cheney syndrome		ISO	RGD:151775071|RGD:405873833	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar Annotator: match by term: NOTCH2-related condition	PMID:28492532
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:3275	thymoma		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:737224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26482881
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:4362	cervical cancer		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:5041	esophageal cancer		ISO	RGD:737224	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029|PMID:9536098
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:6039	uveal melanoma		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:630	genetic disease		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22393170|PMID:25741868|PMID:28492532|PMID:33758422
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:14645240|PMID:16199547|PMID:24836451|PMID:25741868|PMID:28492532|PMID:29286531|PMID:29703746
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:737224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:737224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21804546
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21804546
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
8745653	Phgdh	phosphoglycerate dehydrogenase	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:737224	D	RGD:9068941	20200609	RGD		PHGDH deficiency, OMIM:601815, DNA:point mutation:exon:V490M	PMID:11055895|REF_RGD_ID:1600412
8745670	Ptk7	protein tyrosine kinase 7 (inactive)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8745670	Ptk7	protein tyrosine kinase 7 (inactive)	gene	DOID:1115	sarcoma		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8745670	Ptk7	protein tyrosine kinase 7 (inactive)	gene	DOID:1324	lung cancer		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8745670	Ptk7	protein tyrosine kinase 7 (inactive)	gene	DOID:3275	thymoma		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8745670	Ptk7	protein tyrosine kinase 7 (inactive)	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8745670	Ptk7	protein tyrosine kinase 7 (inactive)	gene	DOID:4362	cervical cancer		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8745670	Ptk7	protein tyrosine kinase 7 (inactive)	gene	DOID:5041	esophageal cancer		ISO	RGD:1344975	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8745670	Ptk7	protein tyrosine kinase 7 (inactive)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745670	Ptk7	protein tyrosine kinase 7 (inactive)	gene	DOID:6039	uveal melanoma		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8745670	Ptk7	protein tyrosine kinase 7 (inactive)	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344975	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
8745670	Ptk7	protein tyrosine kinase 7 (inactive)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8745670	Ptk7	protein tyrosine kinase 7 (inactive)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8745670	Ptk7	protein tyrosine kinase 7 (inactive)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: RUNX1-related disorder	
8745670	Ptk7	protein tyrosine kinase 7 (inactive)	gene	DOID:9256	colorectal cancer		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8745713	Cmtm5	CKLF like MARVEL transmembrane domain containing 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8745713	Cmtm5	CKLF like MARVEL transmembrane domain containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1316008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8745713	Cmtm5	CKLF like MARVEL transmembrane domain containing 5	gene	DOID:1909	melanoma		ISO	RGD:1316008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8745727	Trir	telomerase RNA component interacting RNase	gene	DOID:1324	lung cancer		ISO	RGD:1604305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8745727	Trir	telomerase RNA component interacting RNase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745741	Ift27	intraflagellar transport 27	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8745741	Ift27	intraflagellar transport 27	gene	DOID:0110141	Bardet-Biedl syndrome 19		ISO	RGD:1318628	D	RGD:7240710	20180130	OMIM			
8745741	Ift27	intraflagellar transport 27	gene	DOID:0110141	Bardet-Biedl syndrome 19		ISO	RGD:1318628	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 19 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 19 | ClinVar Annotator: match by term: IFT27-related condition	PMID:24488770|PMID:25446516|PMID:28492532|PMID:29588463|PMID:30761183
8745741	Ift27	intraflagellar transport 27	gene	DOID:10534	stomach cancer		ISO	RGD:1318628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8745741	Ift27	intraflagellar transport 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745741	Ift27	intraflagellar transport 27	gene	DOID:630	genetic disease		ISO	RGD:1318628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8745741	Ift27	intraflagellar transport 27	gene	DOID:8501	fundus dystrophy		ISO	RGD:1318628	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733063	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:0050581	brachydactyly		ISO	RGD:733063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:35169784|PMID:37091313
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:733063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:28492532
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733063	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:0050963	spinocerebellar ataxia 13		ISO	RGD:733063	D	RGD:7240710	20180130	OMIM			
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:0050963	spinocerebellar ataxia 13		ISO	RGD:733063	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KCNC3-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 13 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 13 | ClinVar Annotator: match by term: spinocerebellar ataxia type 13	PMID:25741868|PMID:26467025|PMID:28492532
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:733063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:28492532
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733063	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:26467025|PMID:28492532
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:1389	polyneuropathy		ISO	RGD:733063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:28492532
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:1909	melanoma		ISO	RGD:733063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733063	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:319	spinal cord disease		ISO	RGD:733063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myelopathy	PMID:28492532
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:4362	cervical cancer		ISO	RGD:733063	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:733063	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:26467025|PMID:28492532
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733063	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:630	genetic disease		ISO	RGD:733063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733063	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:9001722	Dysarthria		ISO	RGD:733063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:28492532
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:9002563	Gait Ataxia		ISO	RGD:733063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:28492532
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:733063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:28492532
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:733063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:28492532
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:9008305	Talipes Cavus		ISO	RGD:733063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:35169784|PMID:37091313
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:9256	colorectal cancer		ISO	RGD:733063	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:26467025|PMID:28492532
8745766	Kcnc3	potassium voltage-gated channel subfamily C member 3	gene	DOID:9650	pathologic nystagmus		ISO	RGD:733063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:28492532
8745785	Ppp4c	protein phosphatase 4 catalytic subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8745785	Ppp4c	protein phosphatase 4 catalytic subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8745785	Ppp4c	protein phosphatase 4 catalytic subunit	gene	DOID:0070311	oligoasthenoteratozoospermia		ISO	RGD:1551024	D	RGD:9068941	20220825	MouseDO			
8745785	Ppp4c	protein phosphatase 4 catalytic subunit	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1352781	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
8745785	Ppp4c	protein phosphatase 4 catalytic subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1352781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8745785	Ppp4c	protein phosphatase 4 catalytic subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8745785	Ppp4c	protein phosphatase 4 catalytic subunit	gene	DOID:1324	lung cancer		ISO	RGD:1352781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8745785	Ppp4c	protein phosphatase 4 catalytic subunit	gene	DOID:3393	coronary artery disease		ISO	RGD:1352781	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:blood (human)	PMID:30015926|REF_RGD_ID:401901084
8745785	Ppp4c	protein phosphatase 4 catalytic subunit	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8745785	Ppp4c	protein phosphatase 4 catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745785	Ppp4c	protein phosphatase 4 catalytic subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8745785	Ppp4c	protein phosphatase 4 catalytic subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8745785	Ppp4c	protein phosphatase 4 catalytic subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8745804	Cdo1	cysteine dioxygenase type 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737394	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8745804	Cdo1	cysteine dioxygenase type 1	gene	DOID:10763	hypertension		ISO	RGD:69262	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:6726227|REF_RGD_ID:2301363
8745804	Cdo1	cysteine dioxygenase type 1	gene	DOID:1115	sarcoma		ISO	RGD:737394	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8745804	Cdo1	cysteine dioxygenase type 1	gene	DOID:1324	lung cancer		ISO	RGD:737394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8745804	Cdo1	cysteine dioxygenase type 1	gene	DOID:1909	melanoma		ISO	RGD:737394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8745804	Cdo1	cysteine dioxygenase type 1	gene	DOID:4362	cervical cancer		ISO	RGD:737394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8745804	Cdo1	cysteine dioxygenase type 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745804	Cdo1	cysteine dioxygenase type 1	gene	DOID:8692	myeloid leukemia		ISO	RGD:737394	D	RGD:9068941	20250605	CTD		CTD Direct Evidence: marker/mechanism	PMID:40369079
8745804	Cdo1	cysteine dioxygenase type 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737394	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
8745804	Cdo1	cysteine dioxygenase type 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8745804	Cdo1	cysteine dioxygenase type 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737394	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
8745804	Cdo1	cysteine dioxygenase type 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737394	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23665415
8745804	Cdo1	cysteine dioxygenase type 1	gene	DOID:9970	obesity		ISO	RGD:737395	D	RGD:9068941	20200609	RGD			PMID:16627576|REF_RGD_ID:2301355
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:0050570	congenital disorder of glycosylation type I		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation type I	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:0060046	aphasia		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysphasia	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:0060249	scoliosis		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:0070297	primary microcephaly		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:0080390	nephrotic syndrome type 1		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome	PMID:25741868
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:0080563	congenital disorder of glycosylation Ik		ISO	RGD:1321758	D	RGD:7240710	20180130	OMIM			
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:0080563	congenital disorder of glycosylation Ik		ISO	RGD:1321758	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALG1-related condition | ClinVar Annotator: match by term: CDG Ik | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K	PMID:14709599|PMID:14973778|PMID:14973782|PMID:16199547|PMID:17576681|PMID:20679665|PMID:2296603|PMID:22966035|PMID:23806237|PMID:24033266|PMID:25741868|PMID:25954003|PMID:25956699|PMID:26453362|PMID:26931382|PMID:27172925|PMID:27325525|PMID:27618451|PMID:27670784|PMID:28490743|PMID:28492532|PMID:28554332|PMID:31994750|PMID:32190976|PMID:32573669|PMID:34567092|PMID:37204045|PMID:38736633|PMID:9536098
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:10907	microcephaly		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:12143	neurogenic bladder		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neurogenic bladder	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:12215	oligohydramnios		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:12849	autistic disorder		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:2234	focal epilepsy		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1321758	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1321758	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation | ClinVar Annotator: match by term: congenital disorder of glycosylation	PMID:14709599|PMID:16199547|PMID:17576681|PMID:20679665|PMID:22966035|PMID:23806237|PMID:24033266|PMID:24157261|PMID:25741868|PMID:26453362|PMID:26931382|PMID:27172925|PMID:28492532|PMID:28554332|PMID:30653653|PMID:32064623|PMID:32190976|PMID:34020146|PMID:34567092|PMID:35279850|PMID:38736633|PMID:9536098
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:535	sleep disorder		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:28492532
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:5723	optic atrophy		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:6039	uveal melanoma		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1321758	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9000343	Vision Disorders		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9001581	Constipation		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:28492532
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9002554	Tachycardia		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:25741868|PMID:28492532
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:20679665|PMID:23806237|PMID:25741868|PMID:28492532
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9007722	Myoclonus		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:16199547|PMID:20679665|PMID:23806237|PMID:28492532
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:930	orbital disease		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
8745840	Alg1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:936	brain disease		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
8745866	Bub3	BUB3 mitotic checkpoint protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8745866	Bub3	BUB3 mitotic checkpoint protein	gene	DOID:1324	lung cancer		ISO	RGD:1315390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8745866	Bub3	BUB3 mitotic checkpoint protein	gene	DOID:4362	cervical cancer		ISO	RGD:1315390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8745866	Bub3	BUB3 mitotic checkpoint protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745866	Bub3	BUB3 mitotic checkpoint protein	gene	DOID:9002644	Premature Aging		ISO	RGD:1315391	D	RGD:9068941	20200609	RGD			PMID:16476774|REF_RGD_ID:10059413
8745866	Bub3	BUB3 mitotic checkpoint protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8745866	Bub3	BUB3 mitotic checkpoint protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8745866	Bub3	BUB3 mitotic checkpoint protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1315390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8745881	Grb10	growth factor receptor bound protein 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8745881	Grb10	growth factor receptor bound protein 10	gene	DOID:0080600	COVID-19		ISO	RGD:1352618	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8745881	Grb10	growth factor receptor bound protein 10	gene	DOID:10534	stomach cancer		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8745881	Grb10	growth factor receptor bound protein 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8745881	Grb10	growth factor receptor bound protein 10	gene	DOID:1324	lung cancer		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8745881	Grb10	growth factor receptor bound protein 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8745881	Grb10	growth factor receptor bound protein 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8745881	Grb10	growth factor receptor bound protein 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1352618	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8745881	Grb10	growth factor receptor bound protein 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745881	Grb10	growth factor receptor bound protein 10	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8745881	Grb10	growth factor receptor bound protein 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8745881	Grb10	growth factor receptor bound protein 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8745881	Grb10	growth factor receptor bound protein 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8745881	Grb10	growth factor receptor bound protein 10	gene	DOID:9256	colorectal cancer		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8745906	Api5	apoptosis inhibitor 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:625786595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8745906	Api5	apoptosis inhibitor 5	gene	DOID:1115	sarcoma		ISO	RGD:625786595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8745906	Api5	apoptosis inhibitor 5	gene	DOID:1324	lung cancer		ISO	RGD:625786595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8745906	Api5	apoptosis inhibitor 5	gene	DOID:1909	melanoma		ISO	RGD:625786595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8745906	Api5	apoptosis inhibitor 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:625786595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8745906	Api5	apoptosis inhibitor 5	gene	DOID:5041	esophageal cancer		ISO	RGD:625786595	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8745906	Api5	apoptosis inhibitor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:625786595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745939	Galnt15	polypeptide N-acetylgalactosaminyltransferase 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8745939	Galnt15	polypeptide N-acetylgalactosaminyltransferase 15	gene	DOID:1115	sarcoma		ISO	RGD:1312992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8745939	Galnt15	polypeptide N-acetylgalactosaminyltransferase 15	gene	DOID:1909	melanoma		ISO	RGD:1312992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8745939	Galnt15	polypeptide N-acetylgalactosaminyltransferase 15	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1312992	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8745939	Galnt15	polypeptide N-acetylgalactosaminyltransferase 15	gene	DOID:3275	thymoma		ISO	RGD:1312992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8745939	Galnt15	polypeptide N-acetylgalactosaminyltransferase 15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8745939	Galnt15	polypeptide N-acetylgalactosaminyltransferase 15	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8745939	Galnt15	polypeptide N-acetylgalactosaminyltransferase 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745939	Galnt15	polypeptide N-acetylgalactosaminyltransferase 15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8745939	Galnt15	polypeptide N-acetylgalactosaminyltransferase 15	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8745953	Tram2	translocation associated membrane protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8745953	Tram2	translocation associated membrane protein 2	gene	DOID:3275	thymoma		ISO	RGD:1345669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8745953	Tram2	translocation associated membrane protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8745953	Tram2	translocation associated membrane protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8745953	Tram2	translocation associated membrane protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1345669	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8745953	Tram2	translocation associated membrane protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745953	Tram2	translocation associated membrane protein 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1345669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8745953	Tram2	translocation associated membrane protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8745971	Stx2	syntaxin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8745971	Stx2	syntaxin 2	gene	DOID:12336	male infertility		ISO	RGD:732157	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18277055
8745971	Stx2	syntaxin 2	gene	DOID:1324	lung cancer		ISO	RGD:732157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8745971	Stx2	syntaxin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8745971	Stx2	syntaxin 2	gene	DOID:3275	thymoma		ISO	RGD:732157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8745971	Stx2	syntaxin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745971	Stx2	syntaxin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8745994	Lzts2	leucine zipper tumor suppressor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8745994	Lzts2	leucine zipper tumor suppressor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8745994	Lzts2	leucine zipper tumor suppressor 2	gene	DOID:18	urinary system disease		ISO	RGD:1552566	D	RGD:9068941	20220825	MouseDO			
8745994	Lzts2	leucine zipper tumor suppressor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8745994	Lzts2	leucine zipper tumor suppressor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8745994	Lzts2	leucine zipper tumor suppressor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746012	Srpra	SRP receptor subunit alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8746012	Srpra	SRP receptor subunit alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8746012	Srpra	SRP receptor subunit alpha	gene	DOID:0112135	severe congenital neutropenia 8		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Shwachman-Diamond-like syndrome	
8746012	Srpra	SRP receptor subunit alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8746012	Srpra	SRP receptor subunit alpha	gene	DOID:1115	sarcoma		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8746012	Srpra	SRP receptor subunit alpha	gene	DOID:1324	lung cancer		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8746012	Srpra	SRP receptor subunit alpha	gene	DOID:1909	melanoma		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8746012	Srpra	SRP receptor subunit alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8746012	Srpra	SRP receptor subunit alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8746012	Srpra	SRP receptor subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746012	Srpra	SRP receptor subunit alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8746012	Srpra	SRP receptor subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746012	Srpra	SRP receptor subunit alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8746012	Srpra	SRP receptor subunit alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:0060058	lymphoma		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:0061203	maple syrup urine disease type IA		ISO	RGD:68592	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease type 1A	PMID:1547285|PMID:16579849|PMID:16786533|PMID:17576681|PMID:20570198|PMID:25525159|PMID:25741868|PMID:28492532|PMID:32812330|PMID:8430702|PMID:9536098
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:0061207	maple syrup urine disease type II		ISO	RGD:68592	D	RGD:7240710	20240214	OMIM			
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:0061207	maple syrup urine disease type II		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DBT-related disorder | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE II | ClinVar Annotator: match by term: Maple syrup urine disease type 2 | ClinVar Annotator: match by term: Maple syrup urine disease, type II	PMID:14517957|PMID:1547285|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:1847055|PMID:19823873|PMID:20307994|PMID:20639189|PMID:24516753|PMID:24772966|PMID:25525159|PMID:25741868|PMID:27578510|PMID:28417071|PMID:28492532|PMID:28497172|PMID:31319225|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32712949|PMID:32812330|PMID:35799415|PMID:36361642|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:10534	stomach cancer		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:1115	sarcoma		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:1324	lung cancer		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:2394	ovarian cancer		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:3275	thymoma		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:4362	cervical cancer		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:68592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:6039	uveal melanoma		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:630	genetic disease		ISO	RGD:68592	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:68592	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:9008385	Vomiting		ISO	RGD:68592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:16579849|PMID:16786533|PMID:25741868|PMID:28492532|PMID:32812330|PMID:8430702
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:9008617	Lethargy		ISO	RGD:68592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:16579849|PMID:16786533|PMID:25741868|PMID:28492532|PMID:32812330|PMID:8430702
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:9269	maple syrup urine disease		ISO	RGD:68592	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease	PMID:11112664|PMID:14517957|PMID:1547285|PMID:16199547|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:1847055|PMID:19480318|PMID:19823873|PMID:20570198|PMID:20639189|PMID:21098507|PMID:22090376|PMID:23313820|PMID:23757202|PMID:24033266|PMID:24394677|PMID:24772966|PMID:25255367|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26589311|PMID:27243974|PMID:27518768|PMID:28417071|PMID:28492532|PMID:28497172|PMID:30228974|PMID:31119508|PMID:32193832|PMID:32812330|PMID:33123633|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:9269	maple syrup urine disease		ISO	RGD:68592	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease	PMID:11112664|PMID:14508502|PMID:14517957|PMID:14741190|PMID:1547285|PMID:16199547|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:1847055|PMID:19480318|PMID:19823873|PMID:20307994|PMID:20570198|PMID:20639189|PMID:21098507|PMID:22090376|PMID:23757202|PMID:24033266|PMID:24268812|PMID:24304607|PMID:24394677|PMID:24772966|PMID:25255367|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26589311|PMID:27243974|PMID:27518768|PMID:27578510|PMID:28417071|PMID:28492532|PMID:28497172|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31980395|PMID:32193832|PMID:32778825|PMID:32812330|PMID:33083013|PMID:33123633|PMID:33131499|PMID:33868929|PMID:34069211|PMID:35799415|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512
8746034	Dbt	dihydrolipoamide branched chain transacylase E2	gene	DOID:9269	maple syrup urine disease		ISO	RGD:68592	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease	PMID:11112664|PMID:14508502|PMID:14741190|PMID:14742428|PMID:1547285|PMID:16199547|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:19480318|PMID:20307994|PMID:20570198|PMID:21098507|PMID:22090376|PMID:23313820|PMID:24268812|PMID:24304607|PMID:25255367|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26589311|PMID:27243974|PMID:27518768|PMID:27896100|PMID:28492532|PMID:30228974|PMID:31112740|PMID:31119508|PMID:32778825|PMID:32812330|PMID:33131499|PMID:33868929|PMID:37701324|PMID:8430702|PMID:9536098|PMID:9609836
8746048	Slc10a3	solute carrier family 10 member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8746048	Slc10a3	solute carrier family 10 member 3	gene	DOID:1324	lung cancer		ISO	RGD:1354490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8746048	Slc10a3	solute carrier family 10 member 3	gene	DOID:1909	melanoma		ISO	RGD:1354490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8746048	Slc10a3	solute carrier family 10 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746048	Slc10a3	solute carrier family 10 member 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1354490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8746048	Slc10a3	solute carrier family 10 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746048	Slc10a3	solute carrier family 10 member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:0061189	neuronal ceroid lipofuscinosis 15		ISO	RGD:1313372	D	RGD:7240710	20221116	OMIM			
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:0061189	neuronal ceroid lipofuscinosis 15		ISO	RGD:1313372	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 15 | ClinVar Annotator: match by term: CLCN6-related condition | ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33217309|PMID:38095064|PMID:9536098
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:0110731	neuronal ceroid lipofuscinosis 3		ISO	RGD:1313373	D	RGD:9068941	20220825	MouseDO		OMIM:204200	
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:10534	stomach cancer		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:1115	sarcoma		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:1324	lung cancer		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:3275	thymoma		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1313372	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs3737964(human)	PMID:26740945|REF_RGD_ID:14696742
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1313372	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:540	strabismus		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313372	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313372	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8746054	Clcn6	Cl-/H+ antiporter 6	gene	DOID:9970	obesity		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
8746093	Dcaf12	DDB1 and CUL4 associated factor 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8746093	Dcaf12	DDB1 and CUL4 associated factor 12	gene	DOID:10534	stomach cancer		ISO	RGD:1346609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8746093	Dcaf12	DDB1 and CUL4 associated factor 12	gene	DOID:1115	sarcoma		ISO	RGD:1346609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8746093	Dcaf12	DDB1 and CUL4 associated factor 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8746093	Dcaf12	DDB1 and CUL4 associated factor 12	gene	DOID:4362	cervical cancer		ISO	RGD:1346609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8746093	Dcaf12	DDB1 and CUL4 associated factor 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8746093	Dcaf12	DDB1 and CUL4 associated factor 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746106	Ubap2	ubiquitin associated protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8746106	Ubap2	ubiquitin associated protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8746106	Ubap2	ubiquitin associated protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8746106	Ubap2	ubiquitin associated protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8746106	Ubap2	ubiquitin associated protein 2	gene	DOID:1909	melanoma		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8746106	Ubap2	ubiquitin associated protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8746106	Ubap2	ubiquitin associated protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8746106	Ubap2	ubiquitin associated protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8746106	Ubap2	ubiquitin associated protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8746106	Ubap2	ubiquitin associated protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1323319	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8746106	Ubap2	ubiquitin associated protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746106	Ubap2	ubiquitin associated protein 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8746106	Ubap2	ubiquitin associated protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8746106	Ubap2	ubiquitin associated protein 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8746106	Ubap2	ubiquitin associated protein 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8746106	Ubap2	ubiquitin associated protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746106	Ubap2	ubiquitin associated protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8746147	Pkd2l2	polycystin 2 like 2, transient receptor potential cation channel	gene	DOID:10534	stomach cancer		ISO	RGD:1321074	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8746147	Pkd2l2	polycystin 2 like 2, transient receptor potential cation channel	gene	DOID:1909	melanoma		ISO	RGD:1321074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8746147	Pkd2l2	polycystin 2 like 2, transient receptor potential cation channel	gene	DOID:4362	cervical cancer		ISO	RGD:1321074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8746147	Pkd2l2	polycystin 2 like 2, transient receptor potential cation channel	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746147	Pkd2l2	polycystin 2 like 2, transient receptor potential cation channel	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746147	Pkd2l2	polycystin 2 like 2, transient receptor potential cation channel	gene	DOID:9256	colorectal cancer		ISO	RGD:1321074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8746166	Helz	helicase with zinc finger	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8746166	Helz	helicase with zinc finger	gene	DOID:0060040	pervasive developmental disorder		ISO	RGD:1316013	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Pervasive developmental disorder	PMID:25741868
8746166	Helz	helicase with zinc finger	gene	DOID:10534	stomach cancer		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8746166	Helz	helicase with zinc finger	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8746166	Helz	helicase with zinc finger	gene	DOID:1115	sarcoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8746166	Helz	helicase with zinc finger	gene	DOID:1324	lung cancer		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8746166	Helz	helicase with zinc finger	gene	DOID:1909	melanoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8746166	Helz	helicase with zinc finger	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8746166	Helz	helicase with zinc finger	gene	DOID:3070	high grade glioma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8746166	Helz	helicase with zinc finger	gene	DOID:4362	cervical cancer		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8746166	Helz	helicase with zinc finger	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8746166	Helz	helicase with zinc finger	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8746166	Helz	helicase with zinc finger	gene	DOID:5041	esophageal cancer		ISO	RGD:1316013	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8746166	Helz	helicase with zinc finger	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746166	Helz	helicase with zinc finger	gene	DOID:6039	uveal melanoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8746166	Helz	helicase with zinc finger	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8746166	Helz	helicase with zinc finger	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746166	Helz	helicase with zinc finger	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8746204	Irx4	iroquois homeobox 4	gene	DOID:0060058	lymphoma		ISO	RGD:1319589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8746204	Irx4	iroquois homeobox 4	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1319589	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8746204	Irx4	iroquois homeobox 4	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1319589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
8746204	Irx4	iroquois homeobox 4	gene	DOID:1657	ventricular septal defect		ISO	RGD:1319589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
8746204	Irx4	iroquois homeobox 4	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1319589	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868
8746204	Irx4	iroquois homeobox 4	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1319589	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8746204	Irx4	iroquois homeobox 4	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1319590	D	RGD:9068941	20200609	RGD			PMID:11238910|REF_RGD_ID:1582289
8746204	Irx4	iroquois homeobox 4	gene	DOID:9003959	Ventricular Septal Defect 1		ISO	RGD:1319589	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect 1	
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:0050336	hypophosphatemia		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypophosphatemia	PMID:24176905|PMID:25741868|PMID:40794449
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:0050947	hereditary hypophosphatemic rickets with hypercalciuria		ISO	RGD:1348656	D	RGD:7240710	20180130	OMIM			
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:0050947	hereditary hypophosphatemic rickets with hypercalciuria		ISO	RGD:1348656	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY | ClinVar Annotator: match by term: Hereditary Hypophosphatemic Rickets With Hypercalciuria | ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition	PMID:16199547|PMID:16358214|PMID:16358215|PMID:16849419|PMID:17576681|PMID:18480181|PMID:18523928|PMID:20074341|PMID:21344632|PMID:22159077|PMID:22387237|PMID:22806288|PMID:24176905|PMID:24246249|PMID:24700880|PMID:24825865|PMID:25741868|PMID:26399350|PMID:26789268|PMID:28492532|PMID:29398133|PMID:29505567|PMID:30109410|PMID:31440709|PMID:31589614|PMID:31672324|PMID:32524022|PMID:32963591|PMID:33223529|PMID:33226606|PMID:34426522|PMID:34633109|PMID:34666334|PMID:34721296|PMID:34805638|PMID:35663378|PMID:35689455|PMID:36596813|PMID:36699160|PMID:37144129|PMID:37414395|PMID:37680384|PMID:37981601|PMID:38355430|PMID:38364990|PMID:38586466|PMID:39039281|PMID:40794449|PMID:9536098
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:0060699	familial hypocalciuric hypercalcemia		ISO	RGD:1348656	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis	PMID:25741868
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:0060879	primary hypomagnesemia		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypomagnesemia	PMID:16199547|PMID:16358214|PMID:16358215|PMID:22159077|PMID:24176905|PMID:25525159|PMID:25741868|PMID:28492532|PMID:31440709|PMID:31589614|PMID:31672324|PMID:40794449
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:0080652	calcium oxalate nephrolithiasis		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate	PMID:24176905|PMID:25741868|PMID:40794449
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:0110352	retinitis pigmentosa 59		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 59	PMID:25741868
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:16358214|PMID:16849419|PMID:17576681|PMID:25741868|PMID:28492532|PMID:29809158|PMID:9536098
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:10609	rickets		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rickets	PMID:25741868|PMID:28492532|PMID:31440709|PMID:34805638
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:11199	hypoparathyroidism		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoparathyroidism	PMID:16358214|PMID:22159077|PMID:24700880|PMID:25741868|PMID:26399350|PMID:28492532|PMID:29398133|PMID:31672324|PMID:34666334|PMID:34805638|PMID:37414395|PMID:40794449
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:16199547|PMID:16358214|PMID:16358215|PMID:22159077|PMID:24176905|PMID:25525159|PMID:25741868|PMID:28492532|PMID:31440709|PMID:31589614|PMID:31672324|PMID:40794449
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:13189	gout		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gout	PMID:16358214|PMID:22159077|PMID:24700880|PMID:25741868|PMID:26399350|PMID:28492532|PMID:29398133|PMID:31672324|PMID:34666334|PMID:34805638|PMID:37414395|PMID:40794449
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:2975	cystic kidney disease		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:24176905|PMID:25741868|PMID:40794449
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:3275	thymoma		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1348656	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:16849419|PMID:25741868|PMID:28492532|PMID:31672324|PMID:32524022|PMID:33226606|PMID:35689455|PMID:36699160|PMID:40794449
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:585	nephrolithiasis		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis	PMID:16358214|PMID:22159077|PMID:24176905|PMID:24700880|PMID:25741868|PMID:26399350|PMID:28492532|PMID:29398133|PMID:31672324|PMID:34666334|PMID:34805638|PMID:37414395|PMID:40794449
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:630	genetic disease		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:16358214|PMID:16358215|PMID:22159077|PMID:25525159|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31672324|PMID:34633109|PMID:37414395|PMID:38586466|PMID:40794449
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:7177	anal canal squamous cell carcinoma		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anal canal squamous cell carcinoma	PMID:24176905|PMID:25741868|PMID:40794449
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:784	chronic kidney disease		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:24176905|PMID:25741868|PMID:40794449
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:9000197	Edema		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema	
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypophosphatemic rickets	PMID:16199547|PMID:16358214|PMID:16358215|PMID:22159077|PMID:24176905|PMID:25525159|PMID:25741868|PMID:28492532|PMID:31440709|PMID:31589614|PMID:31672324|PMID:40794449
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:9001738	Hypercalciuria		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercalciuria	PMID:16199547|PMID:16358214|PMID:16358215|PMID:22159077|PMID:24176905|PMID:24700880|PMID:25525159|PMID:25741868|PMID:26399350|PMID:28492532|PMID:29398133|PMID:31440709|PMID:31589614|PMID:31672324|PMID:34666334|PMID:34805638|PMID:37414395|PMID:40794449
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:9004912	Hyperoxaluria		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperoxaluria	PMID:16358214|PMID:22159077|PMID:24700880|PMID:25741868|PMID:26399350|PMID:28492532|PMID:29398133|PMID:31672324|PMID:34666334|PMID:34805638|PMID:37414395|PMID:40794449
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16849419|PMID:25741868|PMID:28492532|PMID:31672324|PMID:32524022|PMID:33226606|PMID:35689455|PMID:36699160|PMID:40794449
8746222	Slc34a3	solute carrier family 34 member 3	gene	DOID:9007573	Flatfoot		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:16358214|PMID:16849419|PMID:17576681|PMID:25741868|PMID:28492532|PMID:29809158|PMID:9536098
8746242	Ndst2	N-deacetylase and N-sulfotransferase 2	gene	DOID:3275	thymoma		ISO	RGD:1312297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8746242	Ndst2	N-deacetylase and N-sulfotransferase 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1312297	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
8746294	Slx9	SLX9 ribosome biogenesis factor	gene	DOID:1115	sarcoma		ISO	RGD:1322617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8746294	Slx9	SLX9 ribosome biogenesis factor	gene	DOID:3275	thymoma		ISO	RGD:1322617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8746294	Slx9	SLX9 ribosome biogenesis factor	gene	DOID:4362	cervical cancer		ISO	RGD:1322617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8746294	Slx9	SLX9 ribosome biogenesis factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746294	Slx9	SLX9 ribosome biogenesis factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746294	Slx9	SLX9 ribosome biogenesis factor	gene	DOID:9256	colorectal cancer		ISO	RGD:1322617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:0050477	Liddle syndrome		ISO	RGD:736324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23348737
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:0051061	stroke		ISO	RGD:736324	D	RGD:9068941	20200609	RGD			PMID:15734793|REF_RGD_ID:5509790
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736324	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:0060854	autosomal recessive pseudohypoaldosteronism type 1		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1	PMID:10403853|PMID:10523338|PMID:10586178|PMID:11978598|PMID:15734793|PMID:16199547|PMID:16249274|PMID:19462466|PMID:20194130|PMID:21917531|PMID:23416952|PMID:24033266|PMID:25741868|PMID:26453628|PMID:26668308|PMID:28492532|PMID:28844315|PMID:33829730|PMID:37252702|PMID:38288475|PMID:39419738
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:0080527	bronchiectasis 2		ISO	RGD:736324	D	RGD:7240710	20180130	OMIM			
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:0080527	bronchiectasis 2		ISO	RGD:736324	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2 | ClinVar Annotator: match by term: Idiopathic bronchiectasis	PMID:10403853|PMID:10523338|PMID:10586178|PMID:11978598|PMID:15734793|PMID:16199547|PMID:16249274|PMID:19462466|PMID:20194130|PMID:21917531|PMID:23392097|PMID:23416952|PMID:24033266|PMID:25741868|PMID:26453628|PMID:26668308|PMID:28492532|PMID:28844315|PMID:33829730|PMID:34134742|PMID:37252702|PMID:38288475|PMID:39419738
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:0110218	Brugada syndrome 1		ISO	RGD:736324	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Brugada syndrome 1	PMID:25741868
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:10283	prostate cancer		ISO	RGD:736324	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:10283	prostate cancer		ISO	RGD:736324	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:10534	stomach cancer		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:10591	pre-eclampsia		ISO	RGD:736324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16555725
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:10763	hypertension		ISO	RGD:736324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11752024|PMID:23348737
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:10763	hypertension	onset	ISO	RGD:3639	D	RGD:9068941	20260611	RGD		mRNA:increased expression:kidney	PMID:23959560|REF_RGD_ID:730468049
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:736324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:1184	nephrotic syndrome		ISO	RGD:3639	D	RGD:9068941	20200609	RGD			PMID:15075188|REF_RGD_ID:1624161
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:1184	nephrotic syndrome		ISO	RGD:3639	D	RGD:9068941	20260625	RGD		protein:increased expression:kidney	PMID:16189294|REF_RGD_ID:736686873
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:12387	nephrogenic diabetes insipidus	treatment	ISO	RGD:3639	D	RGD:9068941	20260611	RGD			PMID:16332930|REF_RGD_ID:730468051
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:12716	newborn respiratory distress syndrome	susceptibility	ISO	RGD:736324	D	RGD:9068941	20260205	RGD		DNA:SNPs:intron, 3' utr:rs4149570, rs7956915	PMID:26611714|REF_RGD_ID:11537134
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:1324	lung cancer		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:1485	cystic fibrosis		ISO	RGD:736324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15077107|PMID:19462466
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:1485	cystic fibrosis	severity	ISO	RGD:1605382,RGD:737288,RGD:619566	D	RGD:9068941	20260101	RGD		DNA:SNP, haplotype:663T>A (rs2228576)	PMID:16463024|REF_RGD_ID:629142775
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:3639	D	RGD:9068941	20260101	RGD		protein:decreased expression:lung	PMID:16214817|REF_RGD_ID:629142782
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:10523338|PMID:11978598|PMID:16249274|PMID:24033266|PMID:25741868|PMID:28492532
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:4479	pseudohypoaldosteronism		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pseudohypoaldosteronism	PMID:10403853|PMID:10586178|PMID:23416952|PMID:25741868|PMID:28492532|PMID:28844315|PMID:33829730|PMID:37252702|PMID:38288475|PMID:39419738
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:5199	ureteral obstruction	treatment	ISO	RGD:3639	D	RGD:9068941	20260611	RGD			PMID:17475897|REF_RGD_ID:2308940
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:576	proteinuria		ISO	RGD:736324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11752024
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:630	genetic disease		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:769	neuroblastoma	disease_progression	ISO	RGD:736324	D	RGD:9068941	20200609	RGD		Low levels of methylation correlate with improved survival	PMID:21314941|REF_RGD_ID:5509791
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:850	lung disease		ISO	RGD:736324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15077107|PMID:19462466
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:8778	Crohn's disease		ISO	RGD:3639	D	RGD:9068941	20260611	RGD		mRNA:decreased expression:sigmoid colon	PMID:18355814|REF_RGD_ID:730468915
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:736324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16168501
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:9001513	Asthenozoospermia	treatment	ISO	RGD:3639	D	RGD:9068941	20260709	RGD			PMID:18298571|REF_RGD_ID:736686877
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:3639	D	RGD:9068941	20260101	RGD		protein: decreased expression: lung	PMID:23061076|REF_RGD_ID:629142781
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:3639	D	RGD:9068941	20260625	RGD		mRNA:decreased expression:lung	PMID:19150416|REF_RGD_ID:736686872
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:3639	D	RGD:9068941	20260627	RGD			PMID:24938646|REF_RGD_ID:736702732
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3639	D	RGD:9068941	20260611	RGD		protein:decreased expression:inner medulla of kidney	PMID:18029369|REF_RGD_ID:730468053
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:9006963	Pseudohypoaldosteronism Type IB1, Autosomal Recessive		ISO	RGD:736324	D	RGD:7240710	20221207	OMIM			
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:9006963	Pseudohypoaldosteronism Type IB1, Autosomal Recessive		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PSEUDOHYPOALDOSTERONISM, TYPE IB1, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB1, autosomal recessive	PMID:10403853|PMID:10510337|PMID:10523338|PMID:10586178|PMID:11978598|PMID:12376807|PMID:15734793|PMID:16199547|PMID:16249274|PMID:19462466|PMID:20194130|PMID:21917531|PMID:23416952|PMID:24033266|PMID:25741868|PMID:26453628|PMID:26668308|PMID:28492532|PMID:28710092|PMID:28844315|PMID:33829730|PMID:37252702|PMID:38288475|PMID:39419738|PMID:8589714
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:9008821	Otitis Media with Effusion		ISO	RGD:3639	D	RGD:9068941	20260625	RGD		mRNA:altered expression:mucosa of middle ear	PMID:19732969|REF_RGD_ID:736686874
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:9009241	Liddle Syndrome 3		ISO	RGD:736324	D	RGD:7240710	20190315	OMIM			
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:9009241	Liddle Syndrome 3		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIDDLE SYNDROME 3 | ClinVar Annotator: match by term: Liddle syndrome 3	PMID:10403853|PMID:10586178|PMID:16199547|PMID:23416952|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28710092|PMID:28844315|PMID:33829730|PMID:37252702|PMID:38288475|PMID:39419738
8746309	Scnn1a	sodium channel epithelial 1 subunit alpha	gene	DOID:9970	obesity		ISO	RGD:3639	D	RGD:9068941	20260625	RGD		protein:increased expression:kidney	PMID:18305093|REF_RGD_ID:736686869
8746342	Mex3d	mex-3 RNA binding family member D	gene	DOID:1324	lung cancer		ISO	RGD:1321562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8746342	Mex3d	mex-3 RNA binding family member D	gene	DOID:4362	cervical cancer		ISO	RGD:1321562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8746342	Mex3d	mex-3 RNA binding family member D	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8746342	Mex3d	mex-3 RNA binding family member D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746347	EMSY	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:2841	asthma		ISO	RGD:1345109	D	RGD:9068941	20260430	RGD		DNA:SNPs: :rs7927894, rs7936070	PMID:31812328|REF_RGD_ID:645233581
8746347	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:10534	stomach cancer		ISO	RGD:1345109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8746347	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:1115	sarcoma		ISO	RGD:1345109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8746347	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1345109	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8746347	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:1324	lung cancer		ISO	RGD:1345109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8746347	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8746347	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1345109	D	RGD:9068941	20251211	RGD		DNA:SNPS, haplotype: :rs1892953, rs2508746, rs12278256	PMID:33213402|REF_RGD_ID:629118413
8746347	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:3310	atopic dermatitis		ISO	RGD:1345109	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23042114
8746347	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1345109	D	RGD:9068941	20260425	RGD		mRNA:increased expression:lung	PMID:28824300|REF_RGD_ID:645135185
8746347	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:4362	cervical cancer		ISO	RGD:1345109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8746347	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:4481	allergic rhinitis	severity	ISO	RGD:1345109	D	RGD:9068941	20260129	RGD		DNA:SNP: :rs7130588	PMID:30170133|REF_RGD_ID:631734351
8746347	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:4481	allergic rhinitis	susceptibility	ISO	RGD:1345109	D	RGD:9068941	20260129	RGD		DNA:SNPs, haplotype: :rs7130588, rs2155219, rs7927894	PMID:30170133|REF_RGD_ID:631734351
8746347	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746347	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8746347	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8746347	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1345109	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
8746347	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746347	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1345109	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19636701
8746347	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8746347	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8746429	Olfml2b	olfactomedin like 2B	gene	DOID:2394	ovarian cancer		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8746429	Olfml2b	olfactomedin like 2B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8746429	Olfml2b	olfactomedin like 2B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8746429	Olfml2b	olfactomedin like 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746429	Olfml2b	olfactomedin like 2B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8746429	Olfml2b	olfactomedin like 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319500	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8746429	Olfml2b	olfactomedin like 2B	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1319500	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8746429	Olfml2b	olfactomedin like 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746429	Olfml2b	olfactomedin like 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8746429	Olfml2b	olfactomedin like 2B	gene	DOID:9256	colorectal cancer		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8746441	Vps51	VPS51 subunit of GARP complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8746441	Vps51	VPS51 subunit of GARP complex	gene	DOID:0112332	pontocerebellar hypoplasia type 13		ISO	RGD:1351540	D	RGD:7240710	20191030	OMIM			
8746441	Vps51	VPS51 subunit of GARP complex	gene	DOID:0112332	pontocerebellar hypoplasia type 13		ISO	RGD:1351540	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 13 | ClinVar Annotator: match by term: VPS51-related condition	PMID:25741868|PMID:30624672|PMID:31207318
8746441	Vps51	VPS51 subunit of GARP complex	gene	DOID:10534	stomach cancer		ISO	RGD:1351540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8746441	Vps51	VPS51 subunit of GARP complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8746441	Vps51	VPS51 subunit of GARP complex	gene	DOID:1324	lung cancer		ISO	RGD:1351540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8746441	Vps51	VPS51 subunit of GARP complex	gene	DOID:1826	epilepsy		ISO	RGD:1351540	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: seizure	PMID:25741868
8746441	Vps51	VPS51 subunit of GARP complex	gene	DOID:1909	melanoma		ISO	RGD:1351540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8746441	Vps51	VPS51 subunit of GARP complex	gene	DOID:3275	thymoma		ISO	RGD:1351540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8746441	Vps51	VPS51 subunit of GARP complex	gene	DOID:4362	cervical cancer		ISO	RGD:1351540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8746441	Vps51	VPS51 subunit of GARP complex	gene	DOID:5041	esophageal cancer		ISO	RGD:1351540	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8746441	Vps51	VPS51 subunit of GARP complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746441	Vps51	VPS51 subunit of GARP complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8746441	Vps51	VPS51 subunit of GARP complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746455	Rps7	ribosomal protein S7	gene	DOID:0111881	Diamond-Blackfan anemia 8		ISO	RGD:1348295	D	RGD:7240710	20180130	OMIM			
8746455	Rps7	ribosomal protein S7	gene	DOID:0111881	Diamond-Blackfan anemia 8		ISO	RGD:1348295	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 8 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 | ClinVar Annotator: match by term: RPS7-related condition	PMID:16199547|PMID:17576681|PMID:23718193|PMID:25424902|PMID:25741868|PMID:25946618|PMID:26136524|PMID:28102861|PMID:28492532|PMID:29114930|PMID:30503522|PMID:32054657|PMID:33718801|PMID:36057918|PMID:9536098
8746455	Rps7	ribosomal protein S7	gene	DOID:10534	stomach cancer		ISO	RGD:1348295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8746455	Rps7	ribosomal protein S7	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:1348295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:26136524|PMID:28492532
8746455	Rps7	ribosomal protein S7	gene	DOID:1909	melanoma		ISO	RGD:1348295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8746455	Rps7	ribosomal protein S7	gene	DOID:4362	cervical cancer		ISO	RGD:1348295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8746455	Rps7	ribosomal protein S7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746455	Rps7	ribosomal protein S7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746455	Rps7	ribosomal protein S7	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1348295	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
8746455	Rps7	ribosomal protein S7	gene	DOID:9256	colorectal cancer		ISO	RGD:1348295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8746502	Dido1	death inducer-obliterator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8746502	Dido1	death inducer-obliterator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8746502	Dido1	death inducer-obliterator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8746502	Dido1	death inducer-obliterator 1	gene	DOID:1324	lung cancer		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8746502	Dido1	death inducer-obliterator 1	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1322490	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
8746502	Dido1	death inducer-obliterator 1	gene	DOID:1909	melanoma		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8746502	Dido1	death inducer-obliterator 1	gene	DOID:3275	thymoma		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8746502	Dido1	death inducer-obliterator 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1322490	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30431698
8746502	Dido1	death inducer-obliterator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8746502	Dido1	death inducer-obliterator 1	gene	DOID:4972	myelodysplastic/myeloproliferative neoplasm		ISO	RGD:30309588	D	RGD:9068941	20220825	MouseDO			
8746502	Dido1	death inducer-obliterator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322490	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8746502	Dido1	death inducer-obliterator 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8746502	Dido1	death inducer-obliterator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746502	Dido1	death inducer-obliterator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8746502	Dido1	death inducer-obliterator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8746502	Dido1	death inducer-obliterator 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8746541	Nlrc3	NLR family CARD domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8746541	Nlrc3	NLR family CARD domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1604212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8746541	Nlrc3	NLR family CARD domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1604212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8746541	Nlrc3	NLR family CARD domain containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8746541	Nlrc3	NLR family CARD domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1604212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8746541	Nlrc3	NLR family CARD domain containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8746541	Nlrc3	NLR family CARD domain containing 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8746541	Nlrc3	NLR family CARD domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1604212	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8746541	Nlrc3	NLR family CARD domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746541	Nlrc3	NLR family CARD domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604212	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30081150
8746541	Nlrc3	NLR family CARD domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746541	Nlrc3	NLR family CARD domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8746541	Nlrc3	NLR family CARD domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8746584	Fabp6	fatty acid binding protein 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8746584	Fabp6	fatty acid binding protein 6	gene	DOID:1324	lung cancer		ISO	RGD:737077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8746584	Fabp6	fatty acid binding protein 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8746595	Hdac10	histone deacetylase 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8746595	Hdac10	histone deacetylase 10	gene	DOID:10534	stomach cancer		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8746595	Hdac10	histone deacetylase 10	gene	DOID:1115	sarcoma		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8746595	Hdac10	histone deacetylase 10	gene	DOID:1324	lung cancer		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8746595	Hdac10	histone deacetylase 10	gene	DOID:1909	melanoma		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8746595	Hdac10	histone deacetylase 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8746595	Hdac10	histone deacetylase 10	gene	DOID:3275	thymoma		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8746595	Hdac10	histone deacetylase 10	gene	DOID:4362	cervical cancer		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8746595	Hdac10	histone deacetylase 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1314168	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8746595	Hdac10	histone deacetylase 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746595	Hdac10	histone deacetylase 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8746595	Hdac10	histone deacetylase 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746595	Hdac10	histone deacetylase 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8746595	Hdac10	histone deacetylase 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8746632	Nkx2-1	NK2 homeobox 1	gene	DOID:12859	choreatic disease		ISO	RGD:732483	D	RGD:7240710	20180130	OMIM			
8746632	Nkx2-1	NK2 homeobox 1	gene	DOID:12859	choreatic disease	susceptibility	ISO	RGD:732483	D	RGD:9068941	20200609	RGD		DNA:transition: ; 745C>T	PMID:16220345|REF_RGD_ID:1600157
8746632	Nkx2-1	NK2 homeobox 1	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:732483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8746632	Nkx2-1	NK2 homeobox 1	gene	DOID:850	lung disease		ISO	RGD:732483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16863852
8746632	Nkx2-1	NK2 homeobox 1	gene	DOID:9003905	Benign Familial Chorea		ISO	RGD:732483	D	RGD:9068941	20200609	RGD		DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human)	PMID:11971878|REF_RGD_ID:12914773
8746632	Nkx2-1	NK2 homeobox 1	gene	DOID:9003905	Benign Familial Chorea		ISO	RGD:732483	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation:exon 2:p.S145X (c.609C>A) (human)	PMID:18788921|REF_RGD_ID:11073166
8746632	Nkx2-1	NK2 homeobox 1	gene	DOID:9003905	Benign Familial Chorea		ISO	RGD:732483	D	RGD:9068941	20200609	RGD		DNA:splice-site mutation:intron:c.464-9C>A (human)	PMID:22825795|REF_RGD_ID:12914772
8746632	Nkx2-1	NK2 homeobox 1	gene	DOID:9004265	Endometrioid Carcinomas		ISO	RGD:732483	D	RGD:9068941	20200609	RGD		DNA:hypermethylation	PMID:17504987|REF_RGD_ID:2290483
8746632	Nkx2-1	NK2 homeobox 1	gene	DOID:9004268	Uterine Neoplasms		ISO	RGD:732483	D	RGD:9068941	20200609	RGD		DNA:hypermethylation	PMID:17504987|REF_RGD_ID:2290483
8746632	Nkx2-1	NK2 homeobox 1	gene	DOID:9004758	Brain-Lung-Thyroid Syndrome		ISO	RGD:732483	D	RGD:7240710	20180130	OMIM			
8746632	Nkx2-1	NK2 homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732483	D	RGD:7240710	20180130	OMIM			
8746632	Nkx2-1	NK2 homeobox 1	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:3866	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:17245593|REF_RGD_ID:1600158
8746632	Nkx2-1	NK2 homeobox 1	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:732483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10830305|PMID:16863852
8746645	Ovgp1	oviductal glycoprotein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8746645	Ovgp1	oviductal glycoprotein 1	gene	DOID:10316	pneumoconiosis		ISO	RGD:1349339	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25445010
8746645	Ovgp1	oviductal glycoprotein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8746645	Ovgp1	oviductal glycoprotein 1	gene	DOID:1909	melanoma		ISO	RGD:1349339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8746645	Ovgp1	oviductal glycoprotein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1349339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8746645	Ovgp1	oviductal glycoprotein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349339	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8746645	Ovgp1	oviductal glycoprotein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746645	Ovgp1	oviductal glycoprotein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746645	Ovgp1	oviductal glycoprotein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8746660	Odf2	outer dense fiber of sperm tails 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8746660	Odf2	outer dense fiber of sperm tails 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8746660	Odf2	outer dense fiber of sperm tails 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8746660	Odf2	outer dense fiber of sperm tails 2	gene	DOID:1115	sarcoma		ISO	RGD:731998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8746660	Odf2	outer dense fiber of sperm tails 2	gene	DOID:1909	melanoma		ISO	RGD:731998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8746660	Odf2	outer dense fiber of sperm tails 2	gene	DOID:3275	thymoma		ISO	RGD:731998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8746660	Odf2	outer dense fiber of sperm tails 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:731998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8746660	Odf2	outer dense fiber of sperm tails 2	gene	DOID:4362	cervical cancer		ISO	RGD:731998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8746660	Odf2	outer dense fiber of sperm tails 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746660	Odf2	outer dense fiber of sperm tails 2	gene	DOID:6039	uveal melanoma		ISO	RGD:731998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8746660	Odf2	outer dense fiber of sperm tails 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:731998	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8746660	Odf2	outer dense fiber of sperm tails 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8746660	Odf2	outer dense fiber of sperm tails 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8746660	Odf2	outer dense fiber of sperm tails 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8746723	Cul1	cullin 1	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1317768	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25811541
8746723	Cul1	cullin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8746723	Cul1	cullin 1	gene	DOID:1115	sarcoma		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8746723	Cul1	cullin 1	gene	DOID:1909	melanoma		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8746723	Cul1	cullin 1	gene	DOID:3275	thymoma		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8746723	Cul1	cullin 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8746723	Cul1	cullin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8746723	Cul1	cullin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317768	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8746723	Cul1	cullin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746723	Cul1	cullin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8746723	Cul1	cullin 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8746723	Cul1	cullin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746723	Cul1	cullin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8746723	Cul1	cullin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8746747	Znf202	zinc finger protein 202	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8746747	Znf202	zinc finger protein 202	gene	DOID:1115	sarcoma		ISO	RGD:1353784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8746747	Znf202	zinc finger protein 202	gene	DOID:1324	lung cancer		ISO	RGD:1353784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8746747	Znf202	zinc finger protein 202	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746747	Znf202	zinc finger protein 202	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8746767	Leng9	leukocyte receptor cluster member 9	gene	DOID:2661	myoepithelioma		ISO	RGD:1317999	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8746778	Pi4k2a	phosphatidylinositol 4-kinase type 2 alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8746778	Pi4k2a	phosphatidylinositol 4-kinase type 2 alpha	gene	DOID:3275	thymoma		ISO	RGD:1605063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8746778	Pi4k2a	phosphatidylinositol 4-kinase type 2 alpha	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8746778	Pi4k2a	phosphatidylinositol 4-kinase type 2 alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746778	Pi4k2a	phosphatidylinositol 4-kinase type 2 alpha	gene	DOID:9004115	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES		ISO	RGD:1605063	D	RGD:7240710	20240529	OMIM			
8746778	Pi4k2a	phosphatidylinositol 4-kinase type 2 alpha	gene	DOID:9004115	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES		ISO	RGD:1605063	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities	PMID:25741868
8746803	Adk	adenosine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8746803	Adk	adenosine kinase	gene	DOID:0060180	colitis		ISO	RGD:10091	D	RGD:9068941	20200609	RGD			PMID:11123368|REF_RGD_ID:6482664
8746803	Adk	adenosine kinase	gene	DOID:0111038	hypermethioninemia due to adenosine kinase deficiency		ISO	RGD:737582	D	RGD:7240710	20180130	OMIM			
8746803	Adk	adenosine kinase	gene	DOID:0111038	hypermethioninemia due to adenosine kinase deficiency		ISO	RGD:737582	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY	PMID:25741868|PMID:28492532
8746803	Adk	adenosine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:737582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8746803	Adk	adenosine kinase	gene	DOID:1059	intellectual disability		ISO	RGD:737582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8746803	Adk	adenosine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8746803	Adk	adenosine kinase	gene	DOID:1115	sarcoma		ISO	RGD:737582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
8746803	Adk	adenosine kinase	gene	DOID:1324	lung cancer		ISO	RGD:737582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8746803	Adk	adenosine kinase	gene	DOID:14115	toxic shock syndrome		ISO	RGD:10091	D	RGD:9068941	20200609	RGD			PMID:8207212|REF_RGD_ID:6482670
8746803	Adk	adenosine kinase	gene	DOID:1826	epilepsy		ISO	RGD:737582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8746803	Adk	adenosine kinase	gene	DOID:2316	brain ischemia		ISO	RGD:10091	D	RGD:9068941	20200609	RGD			PMID:17457365|PMID:21427729|REF_RGD_ID:6482652|REF_RGD_ID:6482655
8746803	Adk	adenosine kinase	gene	DOID:3275	thymoma		ISO	RGD:737582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
8746803	Adk	adenosine kinase	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:2046	D	RGD:9068941	20200609	RGD			PMID:21635241|REF_RGD_ID:6482302
8746803	Adk	adenosine kinase	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:737582	D	RGD:9068941	20200609	RGD			PMID:21635241|REF_RGD_ID:6482302
8746803	Adk	adenosine kinase	gene	DOID:3454	brain infarction		ISO	RGD:10091	D	RGD:9068941	20200609	RGD			PMID:16685255|REF_RGD_ID:6482657
8746803	Adk	adenosine kinase	gene	DOID:3454	brain infarction		ISO	RGD:2046	D	RGD:9068941	20200609	RGD			PMID:9731623|REF_RGD_ID:6482667
8746803	Adk	adenosine kinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
8746803	Adk	adenosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8746803	Adk	adenosine kinase	gene	DOID:630	genetic disease		ISO	RGD:737582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8746803	Adk	adenosine kinase	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2046	D	RGD:9068941	20200609	RGD			PMID:11423084|REF_RGD_ID:6482662
8746803	Adk	adenosine kinase	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2046	D	RGD:9068941	20200609	RGD		associated with diabetic neuropathies;	PMID:9932716|REF_RGD_ID:6482666
8746803	Adk	adenosine kinase	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2046	D	RGD:9068941	20200609	RGD			PMID:11160636|REF_RGD_ID:6482663
8746803	Adk	adenosine kinase	gene	DOID:9002669	Hypoxia		ISO	RGD:737582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19579223
8746803	Adk	adenosine kinase	gene	DOID:9003574	Congenital Visceral Steatosis		ISO	RGD:10091	D	RGD:9068941	20200609	RGD			PMID:11997462|REF_RGD_ID:1300259
8746803	Adk	adenosine kinase	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:2046	D	RGD:9068941	20220616	RGD		protein:decreased expression:brain:	PMID:25720338|REF_RGD_ID:152995398
8746803	Adk	adenosine kinase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2046	D	RGD:9068941	20200609	RGD		protein:decreased expression:spleen, lymphocyte	PMID:12729803|REF_RGD_ID:2313360
8746803	Adk	adenosine kinase	gene	DOID:9006024	Hypotension		ISO	RGD:2046	D	RGD:9068941	20200609	RGD			PMID:9435554|REF_RGD_ID:6482668
8746803	Adk	adenosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746803	Adk	adenosine kinase	gene	DOID:9007402	Gliosis		ISO	RGD:10091	D	RGD:9068941	20200609	RGD		associated with status epilepticus;protein:increased expression:brain	PMID:21964979|REF_RGD_ID:6482650
8746803	Adk	adenosine kinase	gene	DOID:9008023	Memory Disorders		ISO	RGD:10091	D	RGD:9068941	20200609	RGD			PMID:22521820|REF_RGD_ID:6482646
8746803	Adk	adenosine kinase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:737582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8746803	Adk	adenosine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8746803	Adk	adenosine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
8746803	Adk	adenosine kinase	gene	DOID:9452	steatotic liver disease		ISO	RGD:10091	D	RGD:9068941	20220825	MouseDO		OMIM:228100	
8746831	Ins	insulin	gene	DOID:0014667	disease of metabolism		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19131468
8746831	Ins	insulin	gene	DOID:0014667	disease of metabolism		ISO	RGD:731056	D	RGD:9068941	20210820	RGD		associated with human immunodeficiency virus infectious disease;protein:increased expression:blood serum (human)	PMID:22151886|REF_RGD_ID:150340610
8746831	Ins	insulin	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:731056	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young	PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:20007936|PMID:22572540|PMID:24275212|PMID:24411943|PMID:25542748|PMID:25741868|PMID:25781672|PMID:26101329|PMID:26467025|PMID:27634015|PMID:28492532|PMID:30455893|PMID:30456822|PMID:33206859|PMID:33953728|PMID:35083481
8746831	Ins	insulin	gene	DOID:0050847	sleep apnea	susceptibility	ISO	RGD:731056	D	RGD:9068941	20260312	RGD		associated with obesity;DNA:VNTR	PMID:19574727|REF_RGD_ID:632522754
8746831	Ins	insulin	gene	DOID:0051064	left ventricular failure		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11872684
8746831	Ins	insulin	gene	DOID:0060319	cardiac arrest		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17449947
8746831	Ins	insulin	gene	DOID:0060334	transient neonatal diabetes mellitus		ISO	RGD:731056	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive	PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:20938745|PMID:22572540|PMID:24275212|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:27635400|PMID:28492532|PMID:30455893|PMID:30456822|PMID:32916194|PMID:33206859|PMID:33953728|PMID:35083481
8746831	Ins	insulin	gene	DOID:0060639	permanent neonatal diabetes mellitus		ISO	RGD:731056	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Permanent Neonatal Diabetes Mellitus | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus	PMID:20133622|PMID:20938745|PMID:21592955|PMID:24411943|PMID:24516753|PMID:25741868|PMID:25755231|PMID:26463504|PMID:28492532|PMID:32252216|PMID:32656923|PMID:33409956|PMID:33852861|PMID:34584998
8746831	Ins	insulin	gene	DOID:0080000	muscular disease		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:496411
8746831	Ins	insulin	gene	DOID:0080074	neural tube defect		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19446573
8746831	Ins	insulin	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:731056	D	RGD:9068941	20210709	CTD		CTD Direct Evidence: marker/mechanism	PMID:32613381
8746831	Ins	insulin	gene	DOID:0080354	Phelan-McDermid syndrome		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18948358
8746831	Ins	insulin	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:731056	D	RGD:9068941	20260312	RGD			PMID:12589110|REF_RGD_ID:640476574
8746831	Ins	insulin	gene	DOID:0110741	type 1 diabetes mellitus 2		ISO	RGD:731056	D	RGD:7240710	20180130	OMIM			
8746831	Ins	insulin	gene	DOID:0110741	type 1 diabetes mellitus 2		ISO	RGD:731056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 1 diabetes mellitus 2	PMID:20133622|PMID:20938745|PMID:21592955|PMID:24411943|PMID:25741868|PMID:25755231|PMID:28492532|PMID:30977832|PMID:32656923|PMID:33409956
8746831	Ins	insulin	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:731056	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532|PMID:33830302
8746831	Ins	insulin	gene	DOID:0111108	maturity-onset diabetes of the young type 10		ISO	RGD:731056	D	RGD:7240710	20180130	OMIM			
8746831	Ins	insulin	gene	DOID:0111108	maturity-onset diabetes of the young type 10		ISO	RGD:731056	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 10	PMID:20133622|PMID:20938745|PMID:21592955|PMID:24411943|PMID:25741868|PMID:25755231|PMID:28492532|PMID:30977832|PMID:32656923|PMID:33409956
8746831	Ins	insulin	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:731056	D	RGD:9068941	20200609	RGD			PMID:27599544|REF_RGD_ID:13504777
8746831	Ins	insulin	gene	DOID:10603	glucose intolerance		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21779873
8746831	Ins	insulin	gene	DOID:10652	Alzheimer's disease		ISO	RGD:2916	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:cerebral cortex	PMID:17448147|REF_RGD_ID:2298713
8746831	Ins	insulin	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15750215|PMID:9443474
8746831	Ins	insulin	gene	DOID:1074	kidney failure		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8606734|PMID:9861226
8746831	Ins	insulin	gene	DOID:10763	hypertension		ISO	RGD:10812	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:29211853
8746831	Ins	insulin	gene	DOID:10763	hypertension		ISO	RGD:2916	D	RGD:9068941	20200609	RGD			PMID:9095092|REF_RGD_ID:6902896
8746831	Ins	insulin	gene	DOID:10763	hypertension		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:18360027|PMID:9719048
8746831	Ins	insulin	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11889176|PMID:16123091|PMID:2777199
8746831	Ins	insulin	gene	DOID:11714	gestational diabetes		ISO	RGD:731056	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19269197|REF_RGD_ID:2311131
8746831	Ins	insulin	gene	DOID:11717	neonatal diabetes mellitus		ISO	RGD:10812	D	RGD:9068941	20250724	MouseDO			
8746831	Ins	insulin	gene	DOID:11832	visual epilepsy		ISO	RGD:731056	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:14714756|PMID:4115818
8746831	Ins	insulin	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8660453
8746831	Ins	insulin	gene	DOID:1205	allergic disease	treatment	ISO	RGD:731056	D	RGD:9068941	20260312	RGD		associated with Experimental Diabetes Mellitus	PMID:20667094|REF_RGD_ID:640476592
8746831	Ins	insulin	gene	DOID:12217	Lewy body dementia		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276553
8746831	Ins	insulin	gene	DOID:14330	Parkinson's disease		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276553
8746831	Ins	insulin	gene	DOID:1485	cystic fibrosis		ISO	RGD:731056	D	RGD:9068941	20260312	RGD		protein:decreased expression:blood	PMID:9252906|REF_RGD_ID:640476583
8746831	Ins	insulin	gene	DOID:1561	cognitive disorder		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21911655
8746831	Ins	insulin	gene	DOID:1793	pancreatic cancer		ISO	RGD:10812	D	RGD:9068941	20200609	RGD			PMID:19628082|REF_RGD_ID:2317245
8746831	Ins	insulin	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:731056	D	RGD:9068941	20200609	RGD		DNA:Polymorphism:promoter:-23 HphI (human)	PMID:19152242|REF_RGD_ID:2317253
8746831	Ins	insulin	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:731056	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus	PMID:19375425|REF_RGD_ID:2317250
8746831	Ins	insulin	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:731056	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Depend	PMID:19572116|REF_RGD_ID:2317247
8746831	Ins	insulin	gene	DOID:1837	diabetic ketoacidosis		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11430560
8746831	Ins	insulin	gene	DOID:1920	hyperuricemia		ISO	RGD:731056	D	RGD:9068941	20200609	RGD			PMID:19033255|REF_RGD_ID:6902897
8746831	Ins	insulin	gene	DOID:2018	hyperinsulinism		ISO	RGD:731056	D	RGD:9068941	20200609	RGD			PMID:9667398|REF_RGD_ID:1625121
8746831	Ins	insulin	gene	DOID:2018	hyperinsulinism		ISO	RGD:731056	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:2991050|PMID:3511099|PMID:36764371|PMID:4019786|PMID:6382002
8746831	Ins	insulin	gene	DOID:2237	hepatitis		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12243603
8746831	Ins	insulin	gene	DOID:2975	cystic kidney disease		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9879822
8746831	Ins	insulin	gene	DOID:3021	acute kidney failure		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12243603
8746831	Ins	insulin	gene	DOID:3312	bipolar disorder		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:5506046
8746831	Ins	insulin	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:731056	D	RGD:9068941	20200609	RGD		Glucagon/insulin	PMID:19571666|REF_RGD_ID:2317248
8746831	Ins	insulin	gene	DOID:365	bladder disease		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:2055425
8746831	Ins	insulin	gene	DOID:3892	insulinoma		ISO	RGD:731056	D	RGD:9068941	20200609	RGD		protein:altered expression:blood	PMID:8175958|REF_RGD_ID:2317266
8746831	Ins	insulin	gene	DOID:3892	insulinoma		ISO	RGD:731056	D	RGD:9068941	20200609	RGD		protein:altered localization:pancreas	PMID:2565624|REF_RGD_ID:2317268
8746831	Ins	insulin	gene	DOID:409	liver disease		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29684222
8746831	Ins	insulin	gene	DOID:4195	hyperglycemia		ISO	RGD:10812	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:18056790|PMID:29211853
8746831	Ins	insulin	gene	DOID:4195	hyperglycemia		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:8660453|PMID:9861226
8746831	Ins	insulin	gene	DOID:4500	hypokalemia		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:496411
8746831	Ins	insulin	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:731056	D	RGD:9068941	20220714	RGD		mRNA:altered expression:liver (human)	PMID:31687280|REF_RGD_ID:152998978
8746831	Ins	insulin	gene	DOID:4989	pancreatitis		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17163263
8746831	Ins	insulin	gene	DOID:557	kidney disease		ISO	RGD:10812	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:29211853
8746831	Ins	insulin	gene	DOID:594	panic disorder		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12073167
8746831	Ins	insulin	gene	DOID:6000	congestive heart failure		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15628829
8746831	Ins	insulin	gene	DOID:657	adenoma		ISO	RGD:10812	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum	PMID:12917331|REF_RGD_ID:2317273
8746831	Ins	insulin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731056	D	RGD:9068941	20210820	RGD		associated with Chronic Hepatitis C;mRNA:decreased expression:liver (human)	PMID:33132693|REF_RGD_ID:150340613
8746831	Ins	insulin	gene	DOID:8398	osteoarthritis		ISO	RGD:731056	D	RGD:9068941	20200609	RGD		protein:increased expression:blood:	PMID:2290165|REF_RGD_ID:10045857
8746831	Ins	insulin	gene	DOID:8947	diabetic retinopathy		ISO	RGD:10812	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30463601
8746831	Ins	insulin	gene	DOID:8947	diabetic retinopathy		ISO	RGD:731056	D	RGD:9068941	20200609	RGD			PMID:22046295|REF_RGD_ID:6902909
8746831	Ins	insulin	gene	DOID:9000184	Ventricular Fibrillation		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:5348156
8746831	Ins	insulin	gene	DOID:9000197	Edema		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15628829
8746831	Ins	insulin	gene	DOID:9000288	Chronic Intermittent Hypoxia		ISO	RGD:10812	D	RGD:9068941	20260312	RGD		protein:altered expression:islet of Langerhans, blood plasma	PMID:23709585|REF_RGD_ID:640476580
8746831	Ins	insulin	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12243603
8746831	Ins	insulin	gene	DOID:9001542	Albuminuria		ISO	RGD:10812	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29420703
8746831	Ins	insulin	gene	DOID:9001542	Albuminuria		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9861226
8746831	Ins	insulin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:26806094
8746831	Ins	insulin	gene	DOID:9001961	Hyperkalemia		ISO	RGD:731056	D	RGD:9068941	20250605	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:20466255|PMID:31037741|PMID:8606734
8746831	Ins	insulin	gene	DOID:9001981	Weight Loss		ISO	RGD:10812	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:29211853
8746831	Ins	insulin	gene	DOID:9001981	Weight Loss		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22940631
8746831	Ins	insulin	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:2143390|PMID:7713310|PMID:7987072
8746831	Ins	insulin	gene	DOID:9002165	Diabetic Nephropathies	resistance	ISO	RGD:2916	D	RGD:9068941	20200609	RGD			PMID:22068113|REF_RGD_ID:6902908
8746831	Ins	insulin	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12610512
8746831	Ins	insulin	gene	DOID:9002554	Tachycardia		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1324617
8746831	Ins	insulin	gene	DOID:9003242	Paresthesia		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9861226
8746831	Ins	insulin	gene	DOID:9003282	Hyperproinsulinemia		ISO	RGD:731056	D	RGD:7240710	20180130	OMIM			
8746831	Ins	insulin	gene	DOID:9003282	Hyperproinsulinemia		ISO	RGD:731056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperproinsulinemia	PMID:20133622|PMID:20938745|PMID:21592955|PMID:24411943|PMID:25741868|PMID:25755231|PMID:28492532|PMID:30977832|PMID:32656923|PMID:33409956
8746831	Ins	insulin	gene	DOID:9004319	Ventricular Outflow Obstruction		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8660453
8746831	Ins	insulin	gene	DOID:9004407	Permanent Neonatal Diabetes Mellitus 4		ISO	RGD:731056	D	RGD:7240710	20200520	OMIM			
8746831	Ins	insulin	gene	DOID:9004407	Permanent Neonatal Diabetes Mellitus 4		ISO	RGD:731056	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 4	PMID:20133622|PMID:20938745|PMID:21592955|PMID:24411943|PMID:25741868|PMID:25755231|PMID:28492532|PMID:30977832|PMID:32656923|PMID:33409956
8746831	Ins	insulin	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24587105
8746831	Ins	insulin	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12639207
8746831	Ins	insulin	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:731056	D	RGD:9068941	20260307	RGD		associated with Experimental Diabetes Mellitus	PMID:16143347|REF_RGD_ID:640469350
8746831	Ins	insulin	gene	DOID:9005246	Paralysis		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:7433326
8746831	Ins	insulin	gene	DOID:9006024	Hypotension		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:1324617|PMID:48835|PMID:7418494
8746831	Ins	insulin	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12754275
8746831	Ins	insulin	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11274935|PMID:16259526
8746831	Ins	insulin	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27884723|PMID:30266311
8746831	Ins	insulin	gene	DOID:9006854	MPTP Poisoning		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:26364587
8746831	Ins	insulin	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20828608
8746831	Ins	insulin	gene	DOID:9007279	Type 2 Diabetes Mellitus 1		ISO	RGD:731056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 1 diabetes mellitus 2	PMID:20133622|PMID:20938745|PMID:21592955|PMID:24411943|PMID:25741868|PMID:25755231|PMID:28492532|PMID:30977832|PMID:32656923|PMID:33409956
8746831	Ins	insulin	gene	DOID:9007692	Insulin Resistance		ISO	RGD:731056	D	RGD:9068941	20200609	RGD			PMID:3322910|REF_RGD_ID:2311112
8746831	Ins	insulin	gene	DOID:9007692	Insulin Resistance		ISO	RGD:731056	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:11522680|PMID:24648896|PMID:25796170|PMID:33651899
8746831	Ins	insulin	gene	DOID:9008023	Memory Disorders		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9264093
8746831	Ins	insulin	gene	DOID:9009410	cystic fibrosis-related diabetes		ISO	RGD:731056	D	RGD:9068941	20260312	RGD		protein:decreased processing:plasma	PMID:8348704|REF_RGD_ID:640476590
8746831	Ins	insulin	gene	DOID:9351	diabetes mellitus		ISO	RGD:10812	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:19775285
8746831	Ins	insulin	gene	DOID:9351	diabetes mellitus		ISO	RGD:10812	D	RGD:9068941	20260521	RGD		DNA:point mutation (mouse)	PMID:16799061|REF_RGD_ID:2311115
8746831	Ins	insulin	gene	DOID:9351	diabetes mellitus		ISO	RGD:731056	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:11446671|PMID:15628829|PMID:17855560|PMID:18162506|PMID:2055425|PMID:7294224|PMID:7624867|PMID:8400068
8746831	Ins	insulin	gene	DOID:9351	diabetes mellitus		ISO	RGD:731056	D	RGD:9068941	20260521	RGD			PMID:19537357|REF_RGD_ID:2311109
8746831	Ins	insulin	gene	DOID:9351	diabetes mellitus		ISO	RGD:731056	D	RGD:9068941	20260521	RGD		DNA, protein:missense mutations, altered processing:exons, endoplasmic reticulum:multiple	PMID:18451997|REF_RGD_ID:2317262
8746831	Ins	insulin	gene	DOID:9351	diabetes mellitus		ISO	RGD:731056	D	RGD:9068941	20260521	RGD		DNA, protein:missense mutations:exons:multiple	PMID:17855560|REF_RGD_ID:2317259
8746831	Ins	insulin	gene	DOID:9351	diabetes mellitus		ISO	RGD:731056	D	RGD:9068941	20260521	RGD		protein:altered localization  :endoplasmic reticulum	PMID:20034470|REF_RGD_ID:2317260
8746831	Ins	insulin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731056	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Type II diabetes mellitus	PMID:25741868|PMID:28492532|PMID:33830302
8746831	Ins	insulin	gene	DOID:9452	steatotic liver disease		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9048448
8746831	Ins	insulin	gene	DOID:9452	steatotic liver disease		ISO	RGD:731056	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma	PMID:18713300|REF_RGD_ID:2311137
8746831	Ins	insulin	gene	DOID:9675	pulmonary emphysema	treatment	ISO	RGD:731056	D	RGD:9068941	20260307	RGD		associated with Experimental Diabetes Mellitus	PMID:21950537|REF_RGD_ID:640469347
8746831	Ins	insulin	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:10812	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:17151334|PMID:29420703
8746831	Ins	insulin	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:10812	D	RGD:9068941	20250724	MouseDO		OMIM:222100	
8746831	Ins	insulin	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:10812	D	RGD:9068941	20250724	RGD			PMID:15236749|REF_RGD_ID:150340614
8746831	Ins	insulin	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:731056	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: therapeutic	PMID:20620209
8746831	Ins	insulin	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:731056	D	RGD:9068941	20250724	RGD			PMID:18824271|REF_RGD_ID:2311114
8746831	Ins	insulin	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:731056	D	RGD:9068941	20250724	RGD		DNA:SNP:promoter:-23A>T (rs689) (human)	PMID:16552513|REF_RGD_ID:150340607
8746831	Ins	insulin	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:731056	D	RGD:9068941	20250724	RGD		associated autoimmune polyendocrine syndrome;DNA:SNP,repeat:promoter (human)	PMID:17284223|REF_RGD_ID:150340611
8746831	Ins	insulin	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	ISO	RGD:731056	D	RGD:9068941	20210820	RGD		associated autoimmune polyendocrine syndrome;DNA:repeat:promoter (human)	PMID:20535137|REF_RGD_ID:150340608
8746831	Ins	insulin	gene	DOID:9744	type 1 diabetes mellitus	treatment	ISO	RGD:731056	D	RGD:9068941	20210820	RGD		human gene in a mouse model	PMID:16113600|PMID:16382177|PMID:17284779|REF_RGD_ID:150340606|REF_RGD_ID:150340615|REF_RGD_ID:150340616
8746831	Ins	insulin	gene	DOID:9744	type 1 diabetes mellitus	treatment	ISO	RGD:731056	D	RGD:9068941	20210820	RGD		human protein in a mouse model	PMID:21765853|PMID:26783749|REF_RGD_ID:150340605|REF_RGD_ID:150340612
8746831	Ins	insulin	gene	DOID:9970	obesity		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11528401|PMID:2777199|PMID:29035695|PMID:8923850
8746831	Ins	insulin	gene	DOID:9970	obesity	no_association	ISO	RGD:731056	D	RGD:9068941	20260219	RGD		associated with asthma;DNA:SNP:5' utr, intron:rs689	PMID:40132274|REF_RGD_ID:632518438
8746831	Ins	insulin	gene	DOID:9993	hypoglycemia		ISO	RGD:731056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1324617|PMID:1646414|PMID:1890151|PMID:20620209|PMID:22940631|PMID:2554359|PMID:48835
8746836	Maco1	macoilin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8746836	Maco1	macoilin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8746836	Maco1	macoilin 1	gene	DOID:1324	lung cancer		ISO	RGD:1605378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8746836	Maco1	macoilin 1	gene	DOID:1909	melanoma		ISO	RGD:1605378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8746836	Maco1	macoilin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8746836	Maco1	macoilin 1	gene	DOID:3275	thymoma		ISO	RGD:1605378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8746836	Maco1	macoilin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8746836	Maco1	macoilin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605378	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8746836	Maco1	macoilin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746836	Maco1	macoilin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8746836	Maco1	macoilin 1	gene	DOID:9000528	Coronary Disease		ISO	RGD:1605378	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19060911
8746836	Maco1	macoilin 1	gene	DOID:9003370	Dyslipidemias		ISO	RGD:1605378	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19060911
8746836	Maco1	macoilin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8746836	Maco1	macoilin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: LEUKEMIA, ACUTE MYELOID, SOMATIC	
8746855	Mak16	MAK16 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8746855	Mak16	MAK16 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1350635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8746855	Mak16	MAK16 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1350635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8746855	Mak16	MAK16 homolog	gene	DOID:3275	thymoma		ISO	RGD:1350635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8746855	Mak16	MAK16 homolog	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8746855	Mak16	MAK16 homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8746855	Mak16	MAK16 homolog	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8746855	Mak16	MAK16 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746855	Mak16	MAK16 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8746855	Mak16	MAK16 homolog	gene	DOID:9256	colorectal cancer		ISO	RGD:1350635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8746869	Zscan23	zinc finger and SCAN domain containing 23	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746869	Zscan23	zinc finger and SCAN domain containing 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8746877	Ano8	anoctamin 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8746877	Ano8	anoctamin 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8746877	Ano8	anoctamin 8	gene	DOID:10534	stomach cancer		ISO	RGD:1349559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8746877	Ano8	anoctamin 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8746877	Ano8	anoctamin 8	gene	DOID:1115	sarcoma		ISO	RGD:1349559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8746877	Ano8	anoctamin 8	gene	DOID:3070	high grade glioma		ISO	RGD:1349559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8746877	Ano8	anoctamin 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8746877	Ano8	anoctamin 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1349559	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8746877	Ano8	anoctamin 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746877	Ano8	anoctamin 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746877	Ano8	anoctamin 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8746900	Gstcd	glutathione S-transferase C-terminal domain containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8746900	Gstcd	glutathione S-transferase C-terminal domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8746900	Gstcd	glutathione S-transferase C-terminal domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8746900	Gstcd	glutathione S-transferase C-terminal domain containing	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8746900	Gstcd	glutathione S-transferase C-terminal domain containing	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1602688	D	RGD:9068941	20260305	RGD		DNA:SNP: :rs10516526	PMID:21965014|REF_RGD_ID:633633059
8746900	Gstcd	glutathione S-transferase C-terminal domain containing	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1602688	D	RGD:9068941	20260305	RGD		mRNA:decreased expression:lung	PMID:37609638|REF_RGD_ID:633629027
8746900	Gstcd	glutathione S-transferase C-terminal domain containing	gene	DOID:3083	chronic obstructive pulmonary disease	no_association	ISO	RGD:1602688	D	RGD:9068941	20260305	RGD		DNA:SNP:intron:rs10516526	PMID:24286382|REF_RGD_ID:632517853
8746900	Gstcd	glutathione S-transferase C-terminal domain containing	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8746900	Gstcd	glutathione S-transferase C-terminal domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746900	Gstcd	glutathione S-transferase C-terminal domain containing	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8746900	Gstcd	glutathione S-transferase C-terminal domain containing	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1602688	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21716162
8746900	Gstcd	glutathione S-transferase C-terminal domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746900	Gstcd	glutathione S-transferase C-terminal domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8746919	Tagln2	transgelin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8746919	Tagln2	transgelin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8746919	Tagln2	transgelin 2	gene	DOID:1324	lung cancer		ISO	RGD:1321972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8746919	Tagln2	transgelin 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1321972	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329
8746919	Tagln2	transgelin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321972	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8746919	Tagln2	transgelin 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:1321972	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8746919	Tagln2	transgelin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746919	Tagln2	transgelin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8746919	Tagln2	transgelin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321972	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
8746919	Tagln2	transgelin 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1321972	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8746919	Tagln2	transgelin 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1321972	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8746919	Tagln2	transgelin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8746936	Ncan	neurocan	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8746936	Ncan	neurocan	gene	DOID:10534	stomach cancer		ISO	RGD:1344259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8746936	Ncan	neurocan	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344259	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26039340
8746936	Ncan	neurocan	gene	DOID:1909	melanoma		ISO	RGD:1344259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8746936	Ncan	neurocan	gene	DOID:3275	thymoma		ISO	RGD:1344259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8746936	Ncan	neurocan	gene	DOID:3312	bipolar disorder		ISO	RGD:1344259	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
8746936	Ncan	neurocan	gene	DOID:4428	dyslexia		ISO	RGD:1344259	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental dyslexia	PMID:28839234
8746936	Ncan	neurocan	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8746936	Ncan	neurocan	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746936	Ncan	neurocan	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8746936	Ncan	neurocan	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8746955	B4galt1	beta-1,4-galactosyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8746955	B4galt1	beta-1,4-galactosyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8746955	B4galt1	beta-1,4-galactosyltransferase 1	gene	DOID:0070256	congenital disorder of glycosylation type IId		ISO	RGD:1349315	D	RGD:7240710	20180130	OMIM			
8746955	B4galt1	beta-1,4-galactosyltransferase 1	gene	DOID:0070256	congenital disorder of glycosylation type IId		ISO	RGD:1349315	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: B4GALT1-related condition | ClinVar Annotator: match by term: CDG IId | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId	PMID:25741868|PMID:28492532
8746955	B4galt1	beta-1,4-galactosyltransferase 1	gene	DOID:0111669	hyaline fibromatosis syndrome		ISO	RGD:1349315	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hyalinosis, Inherited Systemic	PMID:25741868|PMID:28492532
8746955	B4galt1	beta-1,4-galactosyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
8746955	B4galt1	beta-1,4-galactosyltransferase 1	gene	DOID:28	endocrine system disease		ISO	RGD:10640	D	RGD:9068941	20220825	MouseDO			
8746955	B4galt1	beta-1,4-galactosyltransferase 1	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:10640	D	RGD:9068941	20220825	MouseDO		OMIM:161950 | OMIM:616818	
8746955	B4galt1	beta-1,4-galactosyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1349315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8746955	B4galt1	beta-1,4-galactosyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8746955	B4galt1	beta-1,4-galactosyltransferase 1	gene	DOID:5212	congenital disorder of glycosylation	susceptibility	ISO	RGD:1349315	D	RGD:9068941	20200609	RGD		DNA:insertion: ;1031insC	PMID:11901181|REF_RGD_ID:1599432
8746955	B4galt1	beta-1,4-galactosyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746955	B4galt1	beta-1,4-galactosyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1349315	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8746955	B4galt1	beta-1,4-galactosyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8746965	Rpl7a	ribosomal protein L7a	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8746965	Rpl7a	ribosomal protein L7a	gene	DOID:10534	stomach cancer		ISO	RGD:1316865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8746965	Rpl7a	ribosomal protein L7a	gene	DOID:1324	lung cancer		ISO	RGD:1316865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8746965	Rpl7a	ribosomal protein L7a	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8746965	Rpl7a	ribosomal protein L7a	gene	DOID:4362	cervical cancer		ISO	RGD:1316865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8746965	Rpl7a	ribosomal protein L7a	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746977	Rps2	ribosomal protein S2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8746977	Rps2	ribosomal protein S2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:732314	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
8746977	Rps2	ribosomal protein S2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8746977	Rps2	ribosomal protein S2	gene	DOID:1115	sarcoma		ISO	RGD:732314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8746977	Rps2	ribosomal protein S2	gene	DOID:1826	epilepsy		ISO	RGD:126735466|RGD:156439480|RGD:405876506	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:28492532
8746977	Rps2	ribosomal protein S2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8746977	Rps2	ribosomal protein S2	gene	DOID:3275	thymoma		ISO	RGD:732314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8746977	Rps2	ribosomal protein S2	gene	DOID:5041	esophageal cancer		ISO	RGD:732314	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8746977	Rps2	ribosomal protein S2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746977	Rps2	ribosomal protein S2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8746977	Rps2	ribosomal protein S2	gene	DOID:9002669	Hypoxia		ISO	RGD:732314	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18258771
8746977	Rps2	ribosomal protein S2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746977	Rps2	ribosomal protein S2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8746987	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8746987	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:0110839	Usher syndrome type 2C		ISO	RGD:1323565	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Usher syndrome type 2C	PMID:25741868
8746987	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8746987	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:1059	intellectual disability		ISO	RGD:1323565	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
8746987	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8746987	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:1324	lung cancer		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8746987	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:1909	melanoma		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8746987	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8746987	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8746987	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8746987	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323565	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8746987	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8746987	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:9001128	Usher Syndrome Type 2B		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Usher syndrome, type 2B	PMID:25741868
8746987	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323565	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8746987	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1323565	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8746987	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8746987	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8747015	Cdhr2	cadherin related family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8747015	Cdhr2	cadherin related family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8747015	Cdhr2	cadherin related family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8747015	Cdhr2	cadherin related family member 2	gene	DOID:1115	sarcoma		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8747015	Cdhr2	cadherin related family member 2	gene	DOID:1909	melanoma		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8747015	Cdhr2	cadherin related family member 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8747015	Cdhr2	cadherin related family member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8747015	Cdhr2	cadherin related family member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8747015	Cdhr2	cadherin related family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606556	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8747015	Cdhr2	cadherin related family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747015	Cdhr2	cadherin related family member 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8747015	Cdhr2	cadherin related family member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8747015	Cdhr2	cadherin related family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8747015	Cdhr2	cadherin related family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8747015	Cdhr2	cadherin related family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8747015	Cdhr2	cadherin related family member 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8747064	Robo4	roundabout guidance receptor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8747064	Robo4	roundabout guidance receptor 4	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1345935	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:25741868|PMID:30455415
8747064	Robo4	roundabout guidance receptor 4	gene	DOID:0080977	aortic valve disease 3		ISO	RGD:1345935	D	RGD:7240710	20190731	OMIM			
8747064	Robo4	roundabout guidance receptor 4	gene	DOID:0080977	aortic valve disease 3		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AORTIC VALVE DISEASE 3 | ClinVar Annotator: match by term: Aortic valve disease 3 | ClinVar Annotator: match by term: ROBO4-related condition | ClinVar Annotator: match by term: aortic valve disease 3	PMID:25741868|PMID:28492532|PMID:30455415|PMID:32748548
8747064	Robo4	roundabout guidance receptor 4	gene	DOID:10534	stomach cancer		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8747064	Robo4	roundabout guidance receptor 4	gene	DOID:10591	pre-eclampsia		ISO	RGD:1345935	D	RGD:9068941	20230330	RGD		mRNA,protein:increased expression:placenta	PMID:22262697|REF_RGD_ID:243048428
8747064	Robo4	roundabout guidance receptor 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8747064	Robo4	roundabout guidance receptor 4	gene	DOID:1115	sarcoma		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8747064	Robo4	roundabout guidance receptor 4	gene	DOID:12849	autistic disorder		ISO	RGD:1345935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18270976
8747064	Robo4	roundabout guidance receptor 4	gene	DOID:1324	lung cancer		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8747064	Robo4	roundabout guidance receptor 4	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections | ClinVar Annotator: match by term: thoracic aortic aneurysms	PMID:32748548
8747064	Robo4	roundabout guidance receptor 4	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1345935	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: thoracic aortic aneurysms	
8747064	Robo4	roundabout guidance receptor 4	gene	DOID:224	transient cerebral ischemia		ISO	RGD:6494870	D	RGD:9068941	20230330	RGD		protein:increased expression:hippocampus	PMID:26764532|REF_RGD_ID:11573340
8747064	Robo4	roundabout guidance receptor 4	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1345935	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	
8747064	Robo4	roundabout guidance receptor 4	gene	DOID:3963	thyroid gland carcinoma	treatment	ISO	RGD:1345935	D	RGD:9068941	20220310	RGD			PMID:32626543|REF_RGD_ID:151665104
8747064	Robo4	roundabout guidance receptor 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8747064	Robo4	roundabout guidance receptor 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1345935	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8747064	Robo4	roundabout guidance receptor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747064	Robo4	roundabout guidance receptor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8747064	Robo4	roundabout guidance receptor 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8747064	Robo4	roundabout guidance receptor 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8747086	Zfx	zinc finger protein X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8747086	Zfx	zinc finger protein X-linked	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
8747086	Zfx	zinc finger protein X-linked	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8747086	Zfx	zinc finger protein X-linked	gene	DOID:0060313	tracheomalacia		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tracheomalacia	PMID:25741868
8747086	Zfx	zinc finger protein X-linked	gene	DOID:10534	stomach cancer		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8747086	Zfx	zinc finger protein X-linked	gene	DOID:10892	hypospadias		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
8747086	Zfx	zinc finger protein X-linked	gene	DOID:10970	spastic quadriplegic cerebral palsy		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spastic quadriplegic cerebral palsy	PMID:25741868
8747086	Zfx	zinc finger protein X-linked	gene	DOID:1115	sarcoma		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8747086	Zfx	zinc finger protein X-linked	gene	DOID:11202	primary hyperparathyroidism		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary hyperparathyroidism	
8747086	Zfx	zinc finger protein X-linked	gene	DOID:11836	clubfoot		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
8747086	Zfx	zinc finger protein X-linked	gene	DOID:1324	lung cancer		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8747086	Zfx	zinc finger protein X-linked	gene	DOID:1657	ventricular septal defect		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
8747086	Zfx	zinc finger protein X-linked	gene	DOID:1826	epilepsy		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8747086	Zfx	zinc finger protein X-linked	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
8747086	Zfx	zinc finger protein X-linked	gene	DOID:1909	melanoma		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8747086	Zfx	zinc finger protein X-linked	gene	DOID:4362	cervical cancer		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8747086	Zfx	zinc finger protein X-linked	gene	DOID:5041	esophageal cancer		ISO	RGD:1344344	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8747086	Zfx	zinc finger protein X-linked	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747086	Zfx	zinc finger protein X-linked	gene	DOID:769	neuroblastoma		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neuroblastoma	PMID:25741868
8747086	Zfx	zinc finger protein X-linked	gene	DOID:850	lung disease		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:25741868
8747086	Zfx	zinc finger protein X-linked	gene	DOID:9001510	Funnel Chest		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
8747086	Zfx	zinc finger protein X-linked	gene	DOID:9001809	Urinary Retention		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Urinary retention	PMID:25741868
8747086	Zfx	zinc finger protein X-linked	gene	DOID:9003700	Tracheobronchomalacia		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tracheobronchomalacia	PMID:25741868
8747086	Zfx	zinc finger protein X-linked	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8747086	Zfx	zinc finger protein X-linked	gene	DOID:9005616	Micrognathism		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
8747086	Zfx	zinc finger protein X-linked	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868
8747086	Zfx	zinc finger protein X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8747086	Zfx	zinc finger protein X-linked	gene	DOID:9007817	Macroglossia		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:25741868
8747086	Zfx	zinc finger protein X-linked	gene	DOID:9008780	syndromic X-linked intellectual developmental disorder 37		ISO	RGD:1344344	D	RGD:7240710	20240515	OMIM			
8747086	Zfx	zinc finger protein X-linked	gene	DOID:9008780	syndromic X-linked intellectual developmental disorder 37		ISO	RGD:1344344	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37 | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic 37	PMID:25741868|PMID:32406922|PMID:38325380
8747086	Zfx	zinc finger protein X-linked	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8747086	Zfx	zinc finger protein X-linked	gene	DOID:9256	colorectal cancer		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8747102	Ccdc85c	coiled-coil domain containing 85C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8747102	Ccdc85c	coiled-coil domain containing 85C	gene	DOID:10908	hydrocephalus		ISO	RGD:1589818	D	RGD:9068941	20211029	RGD			PMID:31341137|REF_RGD_ID:150520163
8747102	Ccdc85c	coiled-coil domain containing 85C	gene	DOID:10908	hydrocephalus		ISO	RGD:1613682	D	RGD:9068941	20220825	MouseDO		OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219	
8747102	Ccdc85c	coiled-coil domain containing 85C	gene	DOID:1115	sarcoma		ISO	RGD:1344482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8747132	Ammecr1l	AMMECR1 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8747132	Ammecr1l	AMMECR1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8747132	Ammecr1l	AMMECR1 like	gene	DOID:1115	sarcoma		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8747132	Ammecr1l	AMMECR1 like	gene	DOID:1909	melanoma		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8747132	Ammecr1l	AMMECR1 like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8747132	Ammecr1l	AMMECR1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747132	Ammecr1l	AMMECR1 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8747132	Ammecr1l	AMMECR1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8747165	Tmx4	thioredoxin related transmembrane protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8747165	Tmx4	thioredoxin related transmembrane protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8747165	Tmx4	thioredoxin related transmembrane protein 4	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:1603023	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12	PMID:28492532|PMID:32733715
8747165	Tmx4	thioredoxin related transmembrane protein 4	gene	DOID:3275	thymoma		ISO	RGD:1603023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8747165	Tmx4	thioredoxin related transmembrane protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1603023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervix cancer	
8747165	Tmx4	thioredoxin related transmembrane protein 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8747165	Tmx4	thioredoxin related transmembrane protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1603023	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8747165	Tmx4	thioredoxin related transmembrane protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747165	Tmx4	thioredoxin related transmembrane protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8747177	Nrbf2	nuclear receptor binding factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1346110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8747177	Nrbf2	nuclear receptor binding factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747177	Nrbf2	nuclear receptor binding factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8747200	Gapdhs	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	gene	DOID:10283	prostate cancer		ISO	RGD:1354511	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8747200	Gapdhs	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1354511	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17192785
8747200	Gapdhs	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:1354511	D	RGD:9068941	20200609	RGD		DNA:snps:promoter, intron: (rs4806173, rs12984928) (human)	PMID:15507493|REF_RGD_ID:1358618
8747200	Gapdhs	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8747200	Gapdhs	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8747218	Fkbp4	FKBP prolyl isomerase 4	gene	DOID:4674	androgen insensitivity syndrome		ISO	RGD:1551632	D	RGD:9068941	20220825	MouseDO		OMIM:300068	
8747232	Dcaf16	DDB1 and CUL4 associated factor 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747232	Dcaf16	DDB1 and CUL4 associated factor 16	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1603212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8747232	Dcaf16	DDB1 and CUL4 associated factor 16	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8747238	Myl9	myosin light chain 9	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1322585	D	RGD:9068941	20200609	RGD			PMID:16076902|REF_RGD_ID:1582589
8747238	Myl9	myosin light chain 9	gene	DOID:178	vascular disease		ISO	RGD:1322585	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18511912
8747238	Myl9	myosin light chain 9	gene	DOID:4724	brain edema		ISO	RGD:1322585	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17419808
8747238	Myl9	myosin light chain 9	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322585	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8747238	Myl9	myosin light chain 9	gene	DOID:9006417	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4		ISO	RGD:1322585	D	RGD:7240710	20210707	OMIM			
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:0050860	colorectal adenoma		ISO	RGD:1316000	D	RGD:9068941	20210924	RGD		protein:decreased expression:colorectum (human)	PMID:28423721|REF_RGD_ID:150429743
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:1316000	D	RGD:9068941	20210924	RGD		mRNA:increased expression:tongue squamous epithelium (human)	PMID:28319306|REF_RGD_ID:150429750
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:0050933	ovarian serous carcinoma		ISO	RGD:1316000	D	RGD:9068941	20200609	RGD		ovarian serous carcinoma;  DNA:loss of heterozygosity:tumor:24/28 (86%) of high-grade tumors, also decreased expression in 96/128 (75%) of tumors	PMID:16627982|REF_RGD_ID:2293332
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1316000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316000	D	RGD:9068941	20200609	RGD			PMID:15665277|REF_RGD_ID:2306057
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1316000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:1316000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:1324	lung cancer	ameliorates	ISO	RGD:1316000	D	RGD:9068941	20211001	RGD		DNA:SNP:promoter: -1304T>G (rs3826392) (human)	PMID:20554746|REF_RGD_ID:150429822
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1316000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336|PMID:9331070
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:1793	pancreatic cancer		ISO	RGD:1316000	D	RGD:9068941	20200609	RGD		DNA:mutations:exon	PMID:18772397|REF_RGD_ID:5490966
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1307040	D	RGD:9068941	20200609	RGD		protein:increased threonine phosphorylation:heart, nucleus	PMID:9195981|REF_RGD_ID:7495830
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:2615	papilloma		ISO	RGD:1316001	D	RGD:9068941	20200609	RGD			PMID:20610622|REF_RGD_ID:7495823
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:2876	laryngeal squamous cell carcinoma	severity	ISO	RGD:1316000	D	RGD:9068941	20211001	RGD		associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human)	PMID:19513509|REF_RGD_ID:150429781
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:3008	invasive ductal carcinoma	disease_progression	ISO	RGD:1316000	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:brain metastases:10-fold lower expression in metastases vs primary tumors	PMID:15592684|REF_RGD_ID:2289400
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1316000	D	RGD:9068941	20200609	RGD			PMID:20699612|REF_RGD_ID:5490968
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:3717	gastric adenocarcinoma	severity	ISO	RGD:1316000	D	RGD:9068941	20211001	RGD		protein:decreased expression: stomach (human)	PMID:17116802|REF_RGD_ID:150429780
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:3717	gastric adenocarcinoma	severity	ISO	RGD:1316000	D	RGD:9068941	20211001	RGD		protein:increased expression:stomach (human)	PMID:10854223|REF_RGD_ID:150429764
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:1316000	D	RGD:9068941	20211001	RGD		associated with Postoperative Complications;DNA:SNP:intron: (rs12452497)(human)	PMID:26165383|REF_RGD_ID:11521299
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1316001	D	RGD:9068941	20211001	RGD			PMID:12231543|REF_RGD_ID:150429821
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1316001	D	RGD:9068941	20211001	RGD			PMID:21896780|REF_RGD_ID:150429783
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316000	D	RGD:9068941	20211001	RGD		protein:decreased expression:liver (human)	PMID:32850377|REF_RGD_ID:150429765
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:769	neuroblastoma		ISO	RGD:1316000	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROBLASTOMA	
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:8634	prostate carcinoma in situ	disease_progression	ISO	RGD:1316000	D	RGD:9068941	20200609	RGD		protein:increased expression	PMID:17577251|REF_RGD_ID:2293334
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1316001	D	RGD:9068941	20200609	RGD			PMID:21454599|REF_RGD_ID:7495828
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:9000774	Brain Death		ISO	RGD:1307040	D	RGD:9068941	20200609	RGD			PMID:23157661|REF_RGD_ID:7495829
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:1316000	D	RGD:9068941	20210924	RGD		associated with oral squamous cell carcinoma;mRNA, protein:increased expression:lymph node (human)	PMID:22165133|REF_RGD_ID:150429749
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:1307040	D	RGD:9068941	20200609	RGD			PMID:19668425|REF_RGD_ID:7495824
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1316000	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001)	PMID:17577251|REF_RGD_ID:2293334
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1316001	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001)	PMID:17577251|REF_RGD_ID:2293334
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:9002304	Prostatic Neoplasms	disease_progression	ISO	RGD:1316000	D	RGD:9068941	20200609	RGD		protein:decreased expression:tumor:significant inverse correlation between Gleason pattern and expression (p<0.01)	PMID:11306453|REF_RGD_ID:2293333
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:9002304	Prostatic Neoplasms	disease_progression	ISO	RGD:1316001	D	RGD:9068941	20200609	RGD		expression inhibits metastatic colonization of secondary sites by cancer cells in the AT6.1 model system	PMID:16322247|REF_RGD_ID:2293337
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:1316001	D	RGD:9068941	20200609	RGD		expression inhibits metastatic colonization of secondary sites by cancer cells in the SKOV3ip.1 cell line model system	PMID:16489030|REF_RGD_ID:2293338
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316000	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:9004464	Skin Neoplasms	treatment	ISO	RGD:1316001	D	RGD:9068941	20200609	RGD			PMID:21378167|REF_RGD_ID:7495826
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:9007980	Sleep Deprivation		ISO	RGD:1307040	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:mandible condylar process	PMID:23859770|REF_RGD_ID:7495827
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:9008939	Breast Neoplasms	susceptibility	ISO	RGD:1316000	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype	PMID:19404734|REF_RGD_ID:7495825
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:9256	colorectal cancer	ameliorates	ISO	RGD:1316000	D	RGD:9068941	20211001	RGD		DNA:SNPs:promoter: -1304G>G, -1304T>G (rs3826392) (human)	PMID:19610067|REF_RGD_ID:150429744
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:1316000	D	RGD:9068941	20210924	RGD		protein:decreased expression:colorectum (human)	PMID:28423721|REF_RGD_ID:150429743
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:9261	nasopharynx carcinoma	ameliorates	ISO	RGD:1316000	D	RGD:9068941	20211001	RGD		DNA:SNP:promoter: -1304T>G, -1304G>G (human)	PMID:27373035|REF_RGD_ID:150429759
8747255	Map2k4	mitogen-activated protein kinase kinase 4	gene	DOID:9261	nasopharynx carcinoma	ameliorates	ISO	RGD:1316000	D	RGD:9068941	20211001	RGD		associated with Epstein-Barr Virus Infections; DNA:SNPs:promoter: -1304G>G, -1304T>G (human)	PMID:21702039|REF_RGD_ID:150429763
8747290	Csf2	colony stimulating factor 2	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22315502
8747290	Csf2	colony stimulating factor 2	gene	DOID:0050458	juvenile myelomonocytic leukemia	treatment	ISO	RGD:1354508	D	RGD:9068941	20200609	RGD			PMID:9389708|REF_RGD_ID:10449526
8747290	Csf2	colony stimulating factor 2	gene	DOID:0050852	limb ischemia		ISO	RGD:1551314	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:16648859|REF_RGD_ID:10449511
8747290	Csf2	colony stimulating factor 2	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11486401|PMID:11732872|PMID:7680712
8747290	Csf2	colony stimulating factor 2	gene	DOID:0080074	neural tube defect		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17075842
8747290	Csf2	colony stimulating factor 2	gene	DOID:0080178	mucositis		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8120554
8747290	Csf2	colony stimulating factor 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21664615
8747290	Csf2	colony stimulating factor 2	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1354508	D	RGD:9068941	20200619	RGD		protein:increased expression:plasma (human)	PMID:31986264|REF_RGD_ID:30309212
8747290	Csf2	colony stimulating factor 2	gene	DOID:0080855	Parkinsonism		ISO	RGD:621065	D	RGD:9068941	20200609	RGD			PMID:21291297|REF_RGD_ID:5131508
8747290	Csf2	colony stimulating factor 2	gene	DOID:10325	silicosis		ISO	RGD:621065	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:21505002|REF_RGD_ID:10450467
8747290	Csf2	colony stimulating factor 2	gene	DOID:10914	amnestic disorder		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:8877002
8747290	Csf2	colony stimulating factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11605069
8747290	Csf2	colony stimulating factor 2	gene	DOID:11339	pneumocystosis		ISO	RGD:621065	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:19487471|REF_RGD_ID:5131475
8747290	Csf2	colony stimulating factor 2	gene	DOID:12120	pulmonary alveolar proteinosis		ISO	RGD:1354508	D	RGD:9068941	20200609	RGD			PMID:11179134|PMID:21478218|PMID:9763547|REF_RGD_ID:10449509|REF_RGD_ID:10449522|REF_RGD_ID:5131467
8747290	Csf2	colony stimulating factor 2	gene	DOID:12120	pulmonary alveolar proteinosis		ISO	RGD:1551314	D	RGD:9068941	20220825	MouseDO		OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370	
8747290	Csf2	colony stimulating factor 2	gene	DOID:1227	neutropenia		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11264156|PMID:7875148
8747290	Csf2	colony stimulating factor 2	gene	DOID:1227	neutropenia	treatment	ISO	RGD:1354508	D	RGD:9068941	20200609	RGD			PMID:10832225|REF_RGD_ID:10449510
8747290	Csf2	colony stimulating factor 2	gene	DOID:12449	aplastic anemia		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12221670|PMID:9885444
8747290	Csf2	colony stimulating factor 2	gene	DOID:12987	agranulocytosis		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11732872|PMID:8120554
8747290	Csf2	colony stimulating factor 2	gene	DOID:13375	temporal arteritis		ISO	RGD:1354508	D	RGD:9068941	20200609	RGD			PMID:9844760|REF_RGD_ID:11059502
8747290	Csf2	colony stimulating factor 2	gene	DOID:13949	interstitial cystitis		ISO	RGD:621065	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:18848347|REF_RGD_ID:2317284
8747290	Csf2	colony stimulating factor 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1551314	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple: Csf2,Ifng,Il3	PMID:21537082|REF_RGD_ID:5686773
8747290	Csf2	colony stimulating factor 2	gene	DOID:1588	thrombocytopenia		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8297739
8747290	Csf2	colony stimulating factor 2	gene	DOID:1909	melanoma		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11061616
8747290	Csf2	colony stimulating factor 2	gene	DOID:234	colon adenocarcinoma	treatment	ISO	RGD:1551314	D	RGD:9068941	20200609	RGD			PMID:10830715|REF_RGD_ID:10450245
8747290	Csf2	colony stimulating factor 2	gene	DOID:2355	anemia		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11732872|PMID:8297739
8747290	Csf2	colony stimulating factor 2	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:621065	D	RGD:9068941	20200609	RGD		associated with Respiratory Aspiration;protein:increased expression:serum	PMID:18557728|REF_RGD_ID:2317286
8747290	Csf2	colony stimulating factor 2	gene	DOID:2841	asthma		ISO	RGD:1551314	D	RGD:9068941	20200609	RGD			PMID:9717963|REF_RGD_ID:10449521
8747290	Csf2	colony stimulating factor 2	gene	DOID:2841	asthma		ISO	RGD:1551314	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:20405019|REF_RGD_ID:5131473
8747290	Csf2	colony stimulating factor 2	gene	DOID:2841	asthma	severity	ISO	RGD:1354508	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum	PMID:19213775|REF_RGD_ID:5131476
8747290	Csf2	colony stimulating factor 2	gene	DOID:305	carcinoma		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11605069
8747290	Csf2	colony stimulating factor 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1354508	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum	PMID:19213775|REF_RGD_ID:5131476
8747290	Csf2	colony stimulating factor 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17894541
8747290	Csf2	colony stimulating factor 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:621065	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung:	PMID:9881949|REF_RGD_ID:10449530
8747290	Csf2	colony stimulating factor 2	gene	DOID:530	eyelid disease		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17075842
8747290	Csf2	colony stimulating factor 2	gene	DOID:552	pneumonia		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11732872
8747290	Csf2	colony stimulating factor 2	gene	DOID:552	pneumonia		ISO	RGD:1551314	D	RGD:9068941	20200609	RGD			PMID:19633061|REF_RGD_ID:4142837
8747290	Csf2	colony stimulating factor 2	gene	DOID:5844	myocardial infarction		ISO	RGD:621065	D	RGD:9068941	20200609	RGD			PMID:21326109|REF_RGD_ID:5131507
8747290	Csf2	colony stimulating factor 2	gene	DOID:6000	congestive heart failure		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11732872
8747290	Csf2	colony stimulating factor 2	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1551314	D	RGD:9068941	20200609	RGD			PMID:12731087|REF_RGD_ID:10450243
8747290	Csf2	colony stimulating factor 2	gene	DOID:707	B-cell lymphoma	treatment	ISO	RGD:1551314	D	RGD:9068941	20200609	RGD			PMID:8469286|REF_RGD_ID:10450244
8747290	Csf2	colony stimulating factor 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22446963
8747290	Csf2	colony stimulating factor 2	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:621065	D	RGD:9068941	20201002	RGD		protein:decreased expression:serum (rat)	PMID:15238617|REF_RGD_ID:1302825
8747290	Csf2	colony stimulating factor 2	gene	DOID:7693	abdominal aortic aneurysm	severity	ISO	RGD:621065	D	RGD:9068941	20200609	RGD		mRNA:increased expression:aorta:	PMID:15010288|REF_RGD_ID:10450246
8747290	Csf2	colony stimulating factor 2	gene	DOID:8893	psoriasis		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7744320
8747290	Csf2	colony stimulating factor 2	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:1354508	D	RGD:9068941	20200609	RGD			PMID:15658127|REF_RGD_ID:10449531
8747290	Csf2	colony stimulating factor 2	gene	DOID:9000111	Radiation Injuries		ISO	RGD:1551314	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow,spleen:	PMID:7662961|REF_RGD_ID:10449513
8747290	Csf2	colony stimulating factor 2	gene	DOID:9000242	Lymphoma, AIDS-Related		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:7680712|PMID:9817281
8747290	Csf2	colony stimulating factor 2	gene	DOID:9000641	Pain		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8622042
8747290	Csf2	colony stimulating factor 2	gene	DOID:9000998	Brain Injuries	disease_progression	ISO	RGD:621065	D	RGD:9068941	20200609	RGD			PMID:21515263|REF_RGD_ID:5686795
8747290	Csf2	colony stimulating factor 2	gene	DOID:9001488	Human Influenza		ISO	RGD:1354508	D	RGD:9068941	20200609	RGD			PMID:20427198|REF_RGD_ID:5131472
8747290	Csf2	colony stimulating factor 2	gene	DOID:9001488	Human Influenza		ISO	RGD:1551314	D	RGD:9068941	20200609	RGD			PMID:21474645|REF_RGD_ID:5131470
8747290	Csf2	colony stimulating factor 2	gene	DOID:9001981	Weight Loss		ISO	RGD:1354508	D	RGD:9068941	20240808	CTD		CTD Direct Evidence: therapeutic	PMID:38348709
8747290	Csf2	colony stimulating factor 2	gene	DOID:9003278	Residual Neoplasm		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:14654953
8747290	Csf2	colony stimulating factor 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1354508	D	RGD:9068941	20250306	CTD		CTD Direct Evidence: marker/mechanism	PMID:23982189
8747290	Csf2	colony stimulating factor 2	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8120554
8747290	Csf2	colony stimulating factor 2	gene	DOID:9004484	Sepsis		ISO	RGD:1354508	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:10664226|REF_RGD_ID:10449523
8747290	Csf2	colony stimulating factor 2	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26037280
8747290	Csf2	colony stimulating factor 2	gene	DOID:9005036	Bacteremia	treatment	ISO	RGD:1551314	D	RGD:9068941	20200609	RGD			PMID:2192004|REF_RGD_ID:10449532
8747290	Csf2	colony stimulating factor 2	gene	DOID:9005372	Inflammation		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23159501
8747290	Csf2	colony stimulating factor 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8622042
8747290	Csf2	colony stimulating factor 2	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:7960606
8747290	Csf2	colony stimulating factor 2	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:1354508	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal mucus	PMID:20088864|REF_RGD_ID:4143440
8747290	Csf2	colony stimulating factor 2	gene	DOID:9007073	Cough	treatment	ISO	RGD:1354508	D	RGD:9068941	20200609	RGD			PMID:9525446|REF_RGD_ID:10449525
8747290	Csf2	colony stimulating factor 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17326190
8747290	Csf2	colony stimulating factor 2	gene	DOID:9007222	Bone Marrow Failure Disorders		ISO	RGD:1354508	D	RGD:9068941	20240808	CTD		CTD Direct Evidence: therapeutic	PMID:38348709
8747290	Csf2	colony stimulating factor 2	gene	DOID:9007417	Pseudomonas Infections	treatment	ISO	RGD:1551314	D	RGD:9068941	20200609	RGD		associated with Neutropenia;	PMID:1966550|REF_RGD_ID:10449524
8747290	Csf2	colony stimulating factor 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15289873
8747290	Csf2	colony stimulating factor 2	gene	DOID:9008763	Femoral Fractures		ISO	RGD:621065	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21442011|REF_RGD_ID:5131471
8747290	Csf2	colony stimulating factor 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11325840
8747290	Csf2	colony stimulating factor 2	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11732872
8747290	Csf2	colony stimulating factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21441929
8747290	Csf2	colony stimulating factor 2	gene	DOID:9119	acute myeloid leukemia	treatment	ISO	RGD:1354508	D	RGD:9068941	20200609	RGD			PMID:1826536|REF_RGD_ID:10449528
8747290	Csf2	colony stimulating factor 2	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17404324
8747290	Csf2	colony stimulating factor 2	gene	DOID:9146	visceral leishmaniasis	treatment	ISO	RGD:1354508	D	RGD:9068941	20200609	RGD			PMID:8035028|REF_RGD_ID:10449527
8747290	Csf2	colony stimulating factor 2	gene	DOID:9538	multiple myeloma		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:7540856|PMID:8104070|PMID:8555506
8747332	Paxx	PAXX non-homologous end joining factor	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1606404	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
8747332	Paxx	PAXX non-homologous end joining factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder cancer	
8747332	Paxx	PAXX non-homologous end joining factor	gene	DOID:1826	epilepsy		ISO	RGD:1606404	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizure	
8747332	Paxx	PAXX non-homologous end joining factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8747332	Paxx	PAXX non-homologous end joining factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747332	Paxx	PAXX non-homologous end joining factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:0050912	colon adenoma		ISO	RGD:735457	D	RGD:9068941	20220519	RGD		protein:increased expression:colon (human)	PMID:29079724|REF_RGD_ID:152177516
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:735457	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:0060249	scoliosis		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:28492532
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:0080572	congenital disorder of glycosylation Iw		ISO	RGD:735457	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Iw, autosomal dominant	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:0110033	Alport syndrome 2		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Alport syndrome	PMID:25741868|PMID:28492532
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:26680202
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:10283	prostate cancer		ISO	RGD:735457	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:10283	prostate cancer		ISO	RGD:735457	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:10534	stomach cancer		ISO	RGD:735457	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:24033266|PMID:25741868|PMID:28492532
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:1059	intellectual disability		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Severe intellectual disability	PMID:17576681|PMID:25741868|PMID:28492532|PMID:39246741|PMID:9536098
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:10863	paralytic squint		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paralytic strabismus	PMID:25741868
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:10907	microcephaly		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:10908	hydrocephalus		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:28492532
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:1115	sarcoma		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:11162	respiratory failure		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:11383	cryptorchidism		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:11446	sciatic neuropathy		ISO	RGD:70973	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:spinal cord dorsal horn	PMID:16026470|REF_RGD_ID:6906922
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:12679	nephrocalcinosis		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:12849	autistic disorder		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:12859	choreatic disease		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:13317	hyperinsulinemic hypoglycemia		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:13884	sick sinus syndrome		ISO	RGD:735457	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26831068
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:13884	sick sinus syndrome		ISO	RGD:735458	D	RGD:9068941	20260319	MouseDO		OMIM:163800 | OMIM:608567	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:1826	epilepsy		ISO	RGD:735457	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:28492532
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:1826	epilepsy		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizure	PMID:25741868|PMID:28492532
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:1827	generalized epilepsy		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:1909	melanoma		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:1969	cerebral palsy		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:28492532
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:2234	focal epilepsy		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:234	colon adenocarcinoma	disease_progression	ISO	RGD:735457	D	RGD:9068941	20220519	RGD		protein:increased expression:colon (human)	PMID:29079724|REF_RGD_ID:152177516
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:2841	asthma		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:2843	long QT syndrome		ISO	RGD:735457	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:3275	thymoma		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:3310	atopic dermatitis		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:3312	bipolar disorder		ISO	RGD:735457	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28194001
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:3327	partial motor epilepsy		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal tonic seizure	PMID:25741868
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:446	primary hyperaldosteronism		ISO	RGD:735457	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23913001
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:480	movement disease		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:26680202
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:5041	esophageal cancer		ISO	RGD:735457	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:540	strabismus		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:543	dystonia		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder	PMID:26680202
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:630	genetic disease		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26680202|PMID:27867939|PMID:28492532|PMID:9536098
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:657	adenoma		ISO	RGD:735457	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23913001|PMID:23913004
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:8577	ulcerative colitis		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ulcerative colitis	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:8927	learning disability		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9000006	Supraventricular Tachycardia		ISO	RGD:735457	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26831068
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: dysphagia	PMID:25741868|PMID:28492532
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9000307	Presbycusis		ISO	RGD:735458	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:cochlea	PMID:23470431|REF_RGD_ID:10045570
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9001276	Failure to Thrive		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:70973	D	RGD:9068941	20220609	RGD		protein:decreased expression:pancreas (rat)	PMID:20873977|REF_RGD_ID:152985538
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9002554	Tachycardia		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9003163	Heart Block		ISO	RGD:735457	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26831068
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9003507	Premature Birth		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9003830	Primary Aldosteronism, Seizures, and Neurologic Abnormalities		ISO	RGD:735457	D	RGD:7240710	20180130	OMIM			
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9003830	Primary Aldosteronism, Seizures, and Neurologic Abnormalities		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CACNA1D-related condition | ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: CACNA1D-related neurodevelopmental and endocrine disorders | ClinVar Annotator: match by term: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27867939|PMID:28222800|PMID:28492532|PMID:34279234|PMID:9536098
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9004120	Alcohol Withdrawal Seizures	susceptibility	ISO	RGD:70973	D	RGD:9068941	20220609	RGD		mRNA, protein:increased expression:inferior colliculus (rat)	PMID:25556199|REF_RGD_ID:152985539
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9004538	Hearing Loss		ISO	RGD:735457	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:16199547|PMID:28492532|PMID:30311386
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9004852	Sinoatrial Node Dysfunction and Deafness		ISO	RGD:735457	D	RGD:7240710	20180130	OMIM			
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9004852	Sinoatrial Node Dysfunction and Deafness		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS | ClinVar Annotator: match by term: Sinoatrial node dysfunction and deafness | ClinVar Annotator: match by term: sinoatrial node dysfunction and deafness	PMID:21131953|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26842699|PMID:27650965|PMID:27867939|PMID:28087566|PMID:28492532|PMID:29396561|PMID:30054272|PMID:30498240|PMID:30847666|PMID:32747562|PMID:36430690
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9004898	Jaundice		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:25741868
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9006205	Animal Disease Models		ISO	RGD:735457	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26831068
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:24033266|PMID:28492532
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9007001	Bradycardia		ISO	RGD:735457	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26831068
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9007356	Eczema		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Eczema	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9007661	Dwarfism		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9008023	Memory Disorders		ISO	RGD:70973	D	RGD:9068941	20200609	RGD			PMID:12591156|REF_RGD_ID:704382
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9008394	Drug-Induced Dyskinesia		ISO	RGD:70973	D	RGD:9068941	20200609	RGD			PMID:18947822|REF_RGD_ID:6906919
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9008680	Respiratory Tract Infections		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory tract infection	PMID:25741868
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9008681	Deafness		ISO	RGD:735457	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15357422
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9008681	Deafness		ISO	RGD:735458	D	RGD:9068941	20200609	RGD			PMID:10929716|REF_RGD_ID:1300292
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735457	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:pancreatic islet:	PMID:23229155|REF_RGD_ID:13506727
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:735457	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs9841978,rs312486(human)	PMID:23229155|REF_RGD_ID:13506727
8747352	Cacna1d	calcium voltage-gated channel subunit alpha1 D	gene	DOID:9849	Meniere's disease		ISO	RGD:735457	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Meniere disease	
8747425	Gpr15lg	G protein-coupled receptor 15 ligand	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8747425	Gpr15lg	G protein-coupled receptor 15 ligand	gene	DOID:1909	melanoma		ISO	RGD:1342639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8747425	Gpr15lg	G protein-coupled receptor 15 ligand	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747433	Zfyve27	zinc finger FYVE-type containing 27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8747433	Zfyve27	zinc finger FYVE-type containing 27	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1352080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 33 | ClinVar Annotator: match by term: ZFYVE27-related condition	PMID:25741868|PMID:28492532
8747433	Zfyve27	zinc finger FYVE-type containing 27	gene	DOID:10534	stomach cancer		ISO	RGD:1352080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8747433	Zfyve27	zinc finger FYVE-type containing 27	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8747433	Zfyve27	zinc finger FYVE-type containing 27	gene	DOID:1324	lung cancer		ISO	RGD:1352080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8747433	Zfyve27	zinc finger FYVE-type containing 27	gene	DOID:1909	melanoma		ISO	RGD:1352080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8747433	Zfyve27	zinc finger FYVE-type containing 27	gene	DOID:3275	thymoma		ISO	RGD:1352080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8747433	Zfyve27	zinc finger FYVE-type containing 27	gene	DOID:4362	cervical cancer		ISO	RGD:1352080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8747433	Zfyve27	zinc finger FYVE-type containing 27	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8747433	Zfyve27	zinc finger FYVE-type containing 27	gene	DOID:5041	esophageal cancer		ISO	RGD:1352080	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8747433	Zfyve27	zinc finger FYVE-type containing 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747433	Zfyve27	zinc finger FYVE-type containing 27	gene	DOID:607	paraplegia		ISO	RGD:1352080	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098
8747433	Zfyve27	zinc finger FYVE-type containing 27	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8747433	Zfyve27	zinc finger FYVE-type containing 27	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8747433	Zfyve27	zinc finger FYVE-type containing 27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8747464	Epm2a	EPM2A glucan phosphatase, laforin	gene	DOID:0070660	Lafora disease 1		ISO	RGD:736258	D	RGD:7240710	20240131	OMIM			
8747464	Epm2a	EPM2A glucan phosphatase, laforin	gene	DOID:0070660	Lafora disease 1		ISO	RGD:736258	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPM2A-related condition | ClinVar Annotator: match by term: LAFORA DISEASE 1 | ClinVar Annotator: match by term: MYOCLONIC EPILEPSY OF LAFORA 1 | ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 1	PMID:10932264|PMID:11175283|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:18617530|PMID:19403557|PMID:20738377|PMID:21623095|PMID:22047982|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30041081|PMID:33773408|PMID:34568804|PMID:34755096|PMID:37448753|PMID:9771710|PMID:9931343
8747464	Epm2a	EPM2A glucan phosphatase, laforin	gene	DOID:10534	stomach cancer		ISO	RGD:736258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8747464	Epm2a	EPM2A glucan phosphatase, laforin	gene	DOID:1059	intellectual disability		ISO	RGD:736258	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26467025|PMID:28492532
8747464	Epm2a	EPM2A glucan phosphatase, laforin	gene	DOID:1115	sarcoma		ISO	RGD:736258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8747464	Epm2a	EPM2A glucan phosphatase, laforin	gene	DOID:1826	epilepsy		ISO	RGD:736258	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:26467025|PMID:28492532
8747464	Epm2a	EPM2A glucan phosphatase, laforin	gene	DOID:3534	Lafora disease		ISO	RGD:736258	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsy progressive myoclonic  2 | ClinVar Annotator: match by term: Lafora disease	PMID:12019207|PMID:14532330|PMID:14722920|PMID:17337485|PMID:20738377|PMID:25544560|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30041081|PMID:31690835|PMID:34755096
8747464	Epm2a	EPM2A glucan phosphatase, laforin	gene	DOID:630	genetic disease		ISO	RGD:736258	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22618127|PMID:25741868|PMID:26467025|PMID:28492532
8747464	Epm2a	EPM2A glucan phosphatase, laforin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8747464	Epm2a	EPM2A glucan phosphatase, laforin	gene	DOID:83	cataract		ISO	RGD:736258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868
8747464	Epm2a	EPM2A glucan phosphatase, laforin	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:736258	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy	PMID:10932264|PMID:11175283|PMID:11735300|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:16311711|PMID:17010495|PMID:17389303|PMID:17509003|PMID:17576681|PMID:18029386|PMID:18311786|PMID:18414213|PMID:19403557|PMID:20738377|PMID:21623095|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:26493215|PMID:27843123|PMID:28492532|PMID:28800070|PMID:28934672|PMID:30041081|PMID:31493945|PMID:9536098|PMID:9771710|PMID:9931343
8747464	Epm2a	EPM2A glucan phosphatase, laforin	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:736258	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Progressive myoclonic epilepsy	PMID:10932264|PMID:11175283|PMID:11735300|PMID:12019207|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:17010495|PMID:17389303|PMID:17576681|PMID:18311786|PMID:18414213|PMID:20738377|PMID:21623095|PMID:25246353|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28492532|PMID:30041081|PMID:9536098|PMID:9771710|PMID:9931343
8747464	Epm2a	EPM2A glucan phosphatase, laforin	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:736258	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Progressive myoclonic epilepsy	PMID:10932264|PMID:11175283|PMID:11735300|PMID:11739371|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:16311711|PMID:17010495|PMID:17389303|PMID:17576681|PMID:18029386|PMID:18311786|PMID:18414213|PMID:19403557|PMID:20738377|PMID:21623095|PMID:21652633|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:26493215|PMID:27574708|PMID:27843123|PMID:28492532|PMID:28800070|PMID:28934672|PMID:30041081|PMID:30947044|PMID:31227012|PMID:31493945|PMID:32342326|PMID:34117373|PMID:9536098|PMID:9771710|PMID:9931343
8747464	Epm2a	EPM2A glucan phosphatase, laforin	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:736258	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Progressive myoclonic epilepsy	PMID:10932264|PMID:11175283|PMID:11735300|PMID:11739371|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:16311711|PMID:17010495|PMID:17389303|PMID:17509003|PMID:17576681|PMID:18029386|PMID:18311786|PMID:18414213|PMID:19403557|PMID:20738377|PMID:21623095|PMID:21652633|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:26493215|PMID:27574708|PMID:27843123|PMID:28492532|PMID:28800070|PMID:28934672|PMID:30041081|PMID:30947044|PMID:31227012|PMID:31493945|PMID:32342326|PMID:33773408|PMID:34117373|PMID:34568804|PMID:34755096|PMID:9536098|PMID:9771710|PMID:9931343
8747464	Epm2a	EPM2A glucan phosphatase, laforin	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:736258	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonus epilepsy	PMID:10932264|PMID:11175283|PMID:14532330|PMID:14722920|PMID:16199547|PMID:16311711|PMID:17509003|PMID:17576681|PMID:18029386|PMID:18311786|PMID:19403557|PMID:20738377|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:26493215|PMID:27574708|PMID:28492532|PMID:28800070|PMID:30041081|PMID:30947044|PMID:31227012|PMID:32342326|PMID:34755096|PMID:38407811|PMID:9536098|PMID:9771710|PMID:9931343
8747464	Epm2a	EPM2A glucan phosphatase, laforin	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:736258	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myoclonus epilepsy	PMID:14722920|PMID:20738377|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30041081
8747464	Epm2a	EPM2A glucan phosphatase, laforin	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:736258	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8747479	Ift25	intraflagellar transport 25	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8747479	Ift25	intraflagellar transport 25	gene	DOID:1324	lung cancer		ISO	RGD:1345374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8747479	Ift25	intraflagellar transport 25	gene	DOID:14766	renal agenesis		ISO	RGD:1345374	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Renal agenesis	
8747479	Ift25	intraflagellar transport 25	gene	DOID:3275	thymoma		ISO	RGD:1345374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8747479	Ift25	intraflagellar transport 25	gene	DOID:5041	esophageal cancer		ISO	RGD:1345374	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8747479	Ift25	intraflagellar transport 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747479	Ift25	intraflagellar transport 25	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345374	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8747479	Ift25	intraflagellar transport 25	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8747479	Ift25	intraflagellar transport 25	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8747515	Det1	DET1 partner of COP1 E3 ubiquitin ligase	gene	DOID:10534	stomach cancer		ISO	RGD:1348990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8747515	Det1	DET1 partner of COP1 E3 ubiquitin ligase	gene	DOID:1115	sarcoma		ISO	RGD:1348990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8747515	Det1	DET1 partner of COP1 E3 ubiquitin ligase	gene	DOID:4362	cervical cancer		ISO	RGD:1348990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8747515	Det1	DET1 partner of COP1 E3 ubiquitin ligase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8747515	Det1	DET1 partner of COP1 E3 ubiquitin ligase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8747534	Cd109	CD109 molecule	gene	DOID:10534	stomach cancer		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8747534	Cd109	CD109 molecule	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8747534	Cd109	CD109 molecule	gene	DOID:1115	sarcoma		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8747534	Cd109	CD109 molecule	gene	DOID:1909	melanoma		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8747534	Cd109	CD109 molecule	gene	DOID:3070	high grade glioma		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8747534	Cd109	CD109 molecule	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8747534	Cd109	CD109 molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8747534	Cd109	CD109 molecule	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8747534	Cd109	CD109 molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:1322663	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8747534	Cd109	CD109 molecule	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8747534	Cd109	CD109 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747534	Cd109	CD109 molecule	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8747534	Cd109	CD109 molecule	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8747534	Cd109	CD109 molecule	gene	DOID:9002189	High Myopia		ISO	RGD:1322663	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
8747534	Cd109	CD109 molecule	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8747534	Cd109	CD109 molecule	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8747534	Cd109	CD109 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8747534	Cd109	CD109 molecule	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1322663	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500|PMID:21278247
8747534	Cd109	CD109 molecule	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1322663	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
8747534	Cd109	CD109 molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8747534	Cd109	CD109 molecule	gene	DOID:9256	colorectal cancer		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8747568	Mog	myelin oligodendrocyte glycoprotein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8747568	Mog	myelin oligodendrocyte glycoprotein	gene	DOID:10534	stomach cancer		ISO	RGD:736817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8747568	Mog	myelin oligodendrocyte glycoprotein	gene	DOID:1115	sarcoma		ISO	RGD:736817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8747568	Mog	myelin oligodendrocyte glycoprotein	gene	DOID:1210	optic neuritis		ISO	RGD:3102	D	RGD:9068941	20200609	RGD			PMID:23860028|REF_RGD_ID:9685554
8747568	Mog	myelin oligodendrocyte glycoprotein	gene	DOID:1210	optic neuritis		ISO	RGD:736817	D	RGD:9068941	20200609	RGD			PMID:22157536|REF_RGD_ID:9685553
8747568	Mog	myelin oligodendrocyte glycoprotein	gene	DOID:2377	multiple sclerosis		ISO	RGD:736817	D	RGD:9068941	20200609	RGD			PMID:17142321|REF_RGD_ID:9685374
8747568	Mog	myelin oligodendrocyte glycoprotein	gene	DOID:3213	demyelinating disease		ISO	RGD:736817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23360710|PMID:23547115
8747568	Mog	myelin oligodendrocyte glycoprotein	gene	DOID:3275	thymoma		ISO	RGD:736817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8747568	Mog	myelin oligodendrocyte glycoprotein	gene	DOID:8869	neuromyelitis optica		ISO	RGD:736817	D	RGD:9068941	20250320	RGD		associated with acute disseminated encephalomyelitis	PMID:24425068|REF_RGD_ID:598092477
8747568	Mog	myelin oligodendrocyte glycoprotein	gene	DOID:8986	narcolepsy		ISO	RGD:736817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8747568	Mog	myelin oligodendrocyte glycoprotein	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:10909	D	RGD:9068941	20200609	RGD			PMID:14624757|REF_RGD_ID:9685375
8747568	Mog	myelin oligodendrocyte glycoprotein	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:3102	D	RGD:9068941	20200609	RGD			PMID:10384097|PMID:12799014|REF_RGD_ID:9685372|REF_RGD_ID:9685373
8747568	Mog	myelin oligodendrocyte glycoprotein	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:736817	D	RGD:9068941	20200609	RGD			PMID:14624757|REF_RGD_ID:9685375
8747568	Mog	myelin oligodendrocyte glycoprotein	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:736817	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:12904460|PMID:16931536|PMID:17654737|PMID:17728465|PMID:18566399|PMID:18667803|PMID:21068375|PMID:21317386|PMID:21341682|PMID:23360710|PMID:23547115|PMID:23639249|PMID:24565643|PMID:30661753
8747568	Mog	myelin oligodendrocyte glycoprotein	gene	DOID:9005246	Paralysis		ISO	RGD:736817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23547115
8747568	Mog	myelin oligodendrocyte glycoprotein	gene	DOID:9006506	Narcolepsy 7		ISO	RGD:736817	D	RGD:7240710	20180130	OMIM			
8747568	Mog	myelin oligodendrocyte glycoprotein	gene	DOID:9006506	Narcolepsy 7		ISO	RGD:736817	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MOG-related disorder | ClinVar Annotator: match by term: Narcolepsy 7	PMID:25741868
8747568	Mog	myelin oligodendrocyte glycoprotein	gene	DOID:9007553	neurotoxicity	treatment	ISO	RGD:3102	D	RGD:9068941	20230323	RGD			PMID:33166664|REF_RGD_ID:213230154
8747568	Mog	myelin oligodendrocyte glycoprotein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8747589	Gak	cyclin G associated kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8747589	Gak	cyclin G associated kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8747589	Gak	cyclin G associated kinase	gene	DOID:10534	stomach cancer		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8747589	Gak	cyclin G associated kinase	gene	DOID:1115	sarcoma		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8747589	Gak	cyclin G associated kinase	gene	DOID:1324	lung cancer		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8747589	Gak	cyclin G associated kinase	gene	DOID:14330	Parkinson's disease		ISO	RGD:731643	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20711177
8747589	Gak	cyclin G associated kinase	gene	DOID:1909	melanoma		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8747589	Gak	cyclin G associated kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8747589	Gak	cyclin G associated kinase	gene	DOID:3275	thymoma		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8747589	Gak	cyclin G associated kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8747589	Gak	cyclin G associated kinase	gene	DOID:4362	cervical cancer		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8747589	Gak	cyclin G associated kinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8747589	Gak	cyclin G associated kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:731643	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8747589	Gak	cyclin G associated kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8747589	Gak	cyclin G associated kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747589	Gak	cyclin G associated kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8747589	Gak	cyclin G associated kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8747589	Gak	cyclin G associated kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8747629	Aptx	aprataxin	gene	DOID:0050730	coenzyme Q10 deficiency disease		ISO	RGD:1606553	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Oculomotor Apraxia Type | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type	PMID:24033266|PMID:25741868|PMID:26285866|PMID:26467025|PMID:28492532
8747629	Aptx	aprataxin	gene	DOID:0050754	early-onset ataxia with oculomotor apraxia and hypoalbuminemia		ISO	RGD:1606553	D	RGD:7240710	20180130	OMIM			
8747629	Aptx	aprataxin	gene	DOID:0050754	early-onset ataxia with oculomotor apraxia and hypoalbuminemia		ISO	RGD:1606553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: APTX-related condition | ClinVar Annotator: match by term: ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA | ClinVar Annotator: match by term: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA | ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | ClinVar Annotator: match by term: ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	PMID:11586300|PMID:12196655|PMID:15276230|PMID:15365154|PMID:15596775|PMID:15719174|PMID:15790557|PMID:15876520|PMID:21228398|PMID:21465257|PMID:21486904|PMID:21984210|PMID:23183622|PMID:24033266|PMID:25637650|PMID:25741868|PMID:26285866|PMID:26467025|PMID:26485759|PMID:28492532|PMID:28516743|PMID:28652255|PMID:28881617|PMID:29356829|PMID:29530532|PMID:29934293|PMID:30609409|PMID:33624863|PMID:38192426|PMID:38361118|PMID:38584274|PMID:39425040
8747629	Aptx	aprataxin	gene	DOID:0050754	early-onset ataxia with oculomotor apraxia and hypoalbuminemia	susceptibility	ISO	RGD:1606553	D	RGD:9068941	20200609	RGD		DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)	PMID:12196655|REF_RGD_ID:1599207
8747629	Aptx	aprataxin	gene	DOID:0070238	primary coenzyme Q10 deficiency 1		ISO	RGD:1606553	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1	
8747629	Aptx	aprataxin	gene	DOID:10534	stomach cancer		ISO	RGD:1606553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8747629	Aptx	aprataxin	gene	DOID:1115	sarcoma		ISO	RGD:1606553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8747629	Aptx	aprataxin	gene	DOID:1324	lung cancer		ISO	RGD:1606553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8747629	Aptx	aprataxin	gene	DOID:14784	olivopontocerebellar atrophy		ISO	RGD:1606553	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:725G>A,457A>G(human)	PMID:21465257|REF_RGD_ID:10054301
8747629	Aptx	aprataxin	gene	DOID:1909	melanoma		ISO	RGD:1606553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8747629	Aptx	aprataxin	gene	DOID:3070	high grade glioma		ISO	RGD:1606553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8747629	Aptx	aprataxin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:28492532
8747629	Aptx	aprataxin	gene	DOID:4362	cervical cancer		ISO	RGD:1606553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8747629	Aptx	aprataxin	gene	DOID:5041	esophageal cancer		ISO	RGD:1606553	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8747629	Aptx	aprataxin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747629	Aptx	aprataxin	gene	DOID:630	genetic disease		ISO	RGD:1606553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21465257|PMID:25637650|PMID:25741868|PMID:26285866|PMID:26467025|PMID:28492532|PMID:28881617|PMID:29934293|PMID:38192426
8747629	Aptx	aprataxin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
8747629	Aptx	aprataxin	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1606553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:15719174|PMID:21465257|PMID:23183622|PMID:24033266|PMID:25741868|PMID:26285866|PMID:26467025|PMID:26485759|PMID:28492532|PMID:30609409|PMID:38361118|PMID:38584274|PMID:39425040
8747629	Aptx	aprataxin	gene	DOID:9004866	Ataxia		ISO	RGD:1606553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:15719174|PMID:21465257|PMID:23183622|PMID:24033266|PMID:25741868|PMID:26285866|PMID:26467025|PMID:26485759|PMID:28492532|PMID:30609409|PMID:38361118|PMID:38584274|PMID:39425040
8747629	Aptx	aprataxin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:0060235	carnitine palmitoyltransferase II deficiency		ISO	RGD:736835	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:12200419|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16225172|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29478820|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30609409|PMID:31517061|PMID:32295037|PMID:32489884|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:0060235	carnitine palmitoyltransferase II deficiency		ISO	RGD:736835	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:12200419|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16225172|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:29478820|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30609409|PMID:32295037|PMID:32489884|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:0060235	carnitine palmitoyltransferase II deficiency		ISO	RGD:736835	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:12200419|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30609409|PMID:30881520|PMID:30912279|PMID:31372341|PMID:31770251|PMID:32295037|PMID:32489884|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:0060235	carnitine palmitoyltransferase II deficiency		ISO	RGD:736835	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal | ClinVar Annotator: match by term: Carnitine palmitoyltransferase deficiency type 2	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12200419|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20830526|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:27578510|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29429925|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30609409|PMID:30881520|PMID:30912279|PMID:30957255|PMID:31372341|PMID:31501239|PMID:31770251|PMID:32295037|PMID:32411386|PMID:32489884|PMID:32528171|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:0060235	carnitine palmitoyltransferase II deficiency		ISO	RGD:736835	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12200419|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20830526|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:27578510|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29429925|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30609409|PMID:30881520|PMID:30912279|PMID:30957255|PMID:31372341|PMID:31501239|PMID:31770251|PMID:32295037|PMID:32411386|PMID:32489884|PMID:32528171|PMID:33123633|PMID:33532864|PMID:34063237|PMID:34112556|PMID:34626609|PMID:36109795|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:0060235	carnitine palmitoyltransferase II deficiency		ISO	RGD:736835	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12200419|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20830526|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:27578510|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29429925|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30476936|PMID:30609409|PMID:30881520|PMID:30912279|PMID:30957255|PMID:31372341|PMID:31501239|PMID:31770251|PMID:32295037|PMID:32411386|PMID:32489884|PMID:32528171|PMID:33123633|PMID:33532864|PMID:34063237|PMID:34112556|PMID:34626609|PMID:36109795|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:0060235	carnitine palmitoyltransferase II deficiency		ISO	RGD:736835	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12200419|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20830526|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:27578510|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29429925|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30476936|PMID:30609409|PMID:30881520|PMID:30912279|PMID:30957255|PMID:31372341|PMID:31501239|PMID:31770251|PMID:32295037|PMID:32411386|PMID:32489884|PMID:32528171|PMID:33123633|PMID:33532864|PMID:34063237|PMID:34112556|PMID:34626609|PMID:35360862|PMID:36109795|PMID:38168614|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:0060235	carnitine palmitoyltransferase II deficiency		ISO	RGD:736835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal | ClinVar Annotator: match by term: carnitine palmitoyltransferase II deficiency	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15811315|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20830526|PMID:20934285|PMID:21227726|PMID:21697855|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24602495|PMID:25604974|PMID:25741868|PMID:25919294|PMID:26436962|PMID:26467025|PMID:26537576|PMID:27374853|PMID:27525900|PMID:27974123|PMID:28054946|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28747690|PMID:28801073|PMID:28871440|PMID:29429925|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30455135|PMID:30476936|PMID:30514913|PMID:30881520|PMID:30897730|PMID:30912279|PMID:30957255|PMID:31235404|PMID:31372341|PMID:31541997|PMID:31770251|PMID:31791368|PMID:32295037|PMID:32447334|PMID:32489884|PMID:32528171|PMID:32901917|PMID:32928639|PMID:33123633|PMID:33532864|PMID:33610471|PMID:34063237|PMID:34112556|PMID:34394177|PMID:34449523|PMID:34539730|PMID:34626609|PMID:34975387|PMID:35028265|PMID:35281663|PMID:35360862|PMID:35948506|PMID:36109795|PMID:36696737|PMID:37032731|PMID:37510298|PMID:37541188|PMID:37925743|PMID:38168614|PMID:38544359|PMID:38650450|PMID:39429887|PMID:39653856|PMID:39875687|PMID:7711730|PMID:8358442|PMID:8651281|PMID:8682496|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:0060235	carnitine palmitoyltransferase II deficiency		ISO	RGD:736835	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal | ClinVar Annotator: match by term: carnitine palmitoyltransferase II deficiency	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:12410208|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15811315|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20830526|PMID:20934285|PMID:21227726|PMID:21697855|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24602495|PMID:25604974|PMID:25741868|PMID:25919294|PMID:26436962|PMID:26467025|PMID:26537576|PMID:27374853|PMID:27525900|PMID:27974123|PMID:28054946|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28747690|PMID:28801073|PMID:28871440|PMID:29429925|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30455135|PMID:30476936|PMID:30514913|PMID:30881520|PMID:30897730|PMID:30912279|PMID:30957255|PMID:31235404|PMID:31372341|PMID:31541997|PMID:31770251|PMID:31791368|PMID:32295037|PMID:32447334|PMID:32489884|PMID:32528171|PMID:32901917|PMID:32928639|PMID:33123633|PMID:33532864|PMID:33610471|PMID:34063237|PMID:34112556|PMID:34394177|PMID:34449523|PMID:34539730|PMID:34626609|PMID:34975387|PMID:35028265|PMID:35281663|PMID:35360862|PMID:35948506|PMID:36109795|PMID:36696737|PMID:37032731|PMID:37510298|PMID:37541188|PMID:37925743|PMID:38168614|PMID:38544359|PMID:38650450|PMID:39429887|PMID:39653856|PMID:39875687|PMID:7711730|PMID:8651281|PMID:8682496|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:0060235	carnitine palmitoyltransferase II deficiency		ISO	RGD:736835	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal | ClinVar Annotator: match by term: carnitine palmitoyltransferase II deficiency	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19335026|PMID:19762733|PMID:19763152|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20830526|PMID:21227726|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25604974|PMID:25741868|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:27067077|PMID:27123472|PMID:27374853|PMID:27525900|PMID:27629963|PMID:27974123|PMID:28054946|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28747690|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29429925|PMID:2947882|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30455135|PMID:30476936|PMID:30514913|PMID:30609409|PMID:30881520|PMID:30897730|PMID:30912279|PMID:30957255|PMID:31191612|PMID:31235404|PMID:31372341|PMID:31428121|PMID:31541997|PMID:31770251|PMID:31791368|PMID:32295037|PMID:32447334|PMID:32489884|PMID:32528171|PMID:32901917|PMID:33123633|PMID:33532864|PMID:33610471|PMID:34063237|PMID:34112556|PMID:34394177|PMID:34449523|PMID:34539730|PMID:34626609|PMID:34958143|PMID:34975387|PMID:35028265|PMID:35281663|PMID:35360862|PMID:35948506|PMID:36109795|PMID:37032731|PMID:37510298|PMID:37541188|PMID:37925743|PMID:38168614|PMID:38650450|PMID:39429887|PMID:39653856|PMID:39875687|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:0060321	umbilical hernia		ISO	RGD:736835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:0080000	muscular disease		ISO	RGD:736835	D	RGD:9068941	20250508	CTD		CTD Direct Evidence: marker/mechanism	PMID:18380285
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:0080000	muscular disease		ISO	RGD:736835	D	RGD:9068941	20250508	RGD		variable myopathy, R503C	PMID:10873395|REF_RGD_ID:734814
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:10579	leukodystrophy		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:1059	intellectual disability		ISO	RGD:736835	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:12673791|PMID:18363739|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28801073|PMID:32489884|PMID:34539730|PMID:8682496|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:736835	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:12673791|PMID:18363739|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28801073|PMID:32489884|PMID:34539730|PMID:8682496|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:10969	hemiplegia		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hemiplegia/hemiparesis	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:11830	myopia		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:12849	autistic disorder		ISO	RGD:736835	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:12673791|PMID:18363739|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28801073|PMID:32489884|PMID:34539730|PMID:8682496|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:1307	dementia		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dementia	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:736835	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:1459	hypothyroidism		ISO	RGD:736835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:1596	depressive disorder		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Depression	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:1826	epilepsy		ISO	RGD:736835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:12673791|PMID:17709715|PMID:18363739|PMID:20301431|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28801073|PMID:32489884|PMID:34539730|PMID:8682496|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:1826	epilepsy		ISO	RGD:736835	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:12673791|PMID:18363739|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28801073|PMID:32489884|PMID:34539730|PMID:8682496|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:1826	epilepsy		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18363739|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21227726|PMID:21913903|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23700290|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28779239|PMID:28801073|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:32489884|PMID:34539730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18363739|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21227726|PMID:21913903|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23700290|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28779239|PMID:28801073|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:32489884|PMID:34539730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:1909	melanoma		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:2030	anxiety disorder		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:219	colon cancer		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:2234	focal epilepsy		ISO	RGD:736835	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:12673791|PMID:18363739|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28801073|PMID:32489884|PMID:34539730|PMID:8682496|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:3146	lipid metabolism disorder		ISO	RGD:736835	D	RGD:9068941	20200609	RGD		infantile form CPT2 deficiency, OMIM:600649, R631C	PMID:1528846|REF_RGD_ID:1600742
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:3275	thymoma		ISO	RGD:736835	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:423	myopathy		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:736835	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:5339	cyclic hematopoiesis		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cyclical neutropenia	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:535	sleep disorder		ISO	RGD:736835	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:12673791|PMID:18363739|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28801073|PMID:32489884|PMID:34539730|PMID:8682496|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736835	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:630	genetic disease		ISO	RGD:736835	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:1528846|PMID:15642848|PMID:15754283|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17651973|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28054946|PMID:28492532|PMID:28779239|PMID:29429925|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30455135|PMID:30609409|PMID:30897730|PMID:31191612|PMID:32295037|PMID:34112556|PMID:34975387|PMID:37032731|PMID:37510298|PMID:39653856|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9000495	Tremor		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Rhabdomyolysis	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9001501	Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal		ISO	RGD:736835	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14615409|PMID:1528846|PMID:15642848|PMID:15754283|PMID:15776096|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17936304|PMID:18363739|PMID:18550408|PMID:18925671|PMID:19335026|PMID:19762733|PMID:20301431|PMID:20810031|PMID:20830526|PMID:21227726|PMID:21913903|PMID:22494076|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23700290|PMID:23757202|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27525900|PMID:27629963|PMID:28054946|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29429925|PMID:2947882|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30149802|PMID:30455135|PMID:30609409|PMID:30897730|PMID:31191612|PMID:31372341|PMID:31428121|PMID:32295037|PMID:32489884|PMID:34063237|PMID:34112556|PMID:34539730|PMID:34958143|PMID:34975387|PMID:37032731|PMID:38650450|PMID:39653856|PMID:39875687|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9001501	Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal	susceptibility	ISO	RGD:736835	D	RGD:7240710	20260729	OMIM			
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9001722	Dysarthria		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:736835	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:12673791|PMID:18363739|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28801073|PMID:32489884|PMID:34539730|PMID:8682496|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736835	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:10090476|PMID:10607472|PMID:11257506|PMID:12673791|PMID:12707442|PMID:15642848|PMID:16615913|PMID:18550408|PMID:18925671|PMID:24398345|PMID:24602495|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34063237|PMID:39875687
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9005627	Metabolic Brain Diseases		ISO	RGD:736835	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21816645
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:736835	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:12673791|PMID:18363739|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28801073|PMID:32489884|PMID:34539730|PMID:8682496|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9007402	Gliosis		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gliosis	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9007573	Flatfoot		ISO	RGD:736835	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:10090476|PMID:10607472|PMID:11257506|PMID:12673791|PMID:12707442|PMID:15642848|PMID:16615913|PMID:18550408|PMID:18925671|PMID:24398345|PMID:24602495|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34063237|PMID:39875687
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9007623	Late-Onset Carnitine Palmitoyltransferase II Deficiency		ISO	RGD:736835	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, late-onset | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:11257506|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14615409|PMID:1528846|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17651973|PMID:17936304|PMID:18363739|PMID:18550408|PMID:18925671|PMID:19335026|PMID:20301431|PMID:20810031|PMID:20830526|PMID:21227726|PMID:21913903|PMID:22494076|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23700290|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28054946|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29429925|PMID:2947882|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30149802|PMID:30455135|PMID:30609409|PMID:30897730|PMID:31191612|PMID:31372341|PMID:31428121|PMID:32295037|PMID:32489884|PMID:34063237|PMID:34112556|PMID:34539730|PMID:34958143|PMID:34975387|PMID:37032731|PMID:38650450|PMID:39653856|PMID:39875687|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9007623	Late-Onset Carnitine Palmitoyltransferase II Deficiency	susceptibility	ISO	RGD:736835	D	RGD:7240710	20260729	OMIM			
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9007668	Carnitine Palmitoyltransferase II Deficiency, Infantile		ISO	RGD:736835	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: CPT2 DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17936304|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18925671|PMID:19335026|PMID:19762733|PMID:20301431|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20830526|PMID:21227726|PMID:21913903|PMID:22841441|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23700290|PMID:23757202|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29429925|PMID:2947882|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:31372341|PMID:31428121|PMID:32295037|PMID:32489884|PMID:34063237|PMID:34539730|PMID:34958143|PMID:39875687|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9007668	Carnitine Palmitoyltransferase II Deficiency, Infantile	susceptibility	ISO	RGD:736835	D	RGD:7240710	20260729	OMIM			
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9008214	Genu Valgum		ISO	RGD:736835	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:10090476|PMID:10607472|PMID:11257506|PMID:12673791|PMID:12707442|PMID:15642848|PMID:16615913|PMID:18550408|PMID:18925671|PMID:24398345|PMID:24602495|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34063237|PMID:39875687
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9009375	Encephalopathy, acute, infection-induced, 4		ISO	RGD:736835	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CPT2-related disorder	PMID:10090476|PMID:10862092|PMID:10873395|PMID:12673791|PMID:16615913|PMID:16996287|PMID:17372854|PMID:17936304|PMID:18550408|PMID:19762733|PMID:21913903|PMID:23475205|PMID:24398345|PMID:24602495|PMID:25741868|PMID:26467025|PMID:28054946|PMID:28492532|PMID:30455135|PMID:30897730|PMID:32295037|PMID:34975387|PMID:37032731|PMID:39653856
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9009375	Encephalopathy, acute, infection-induced, 4	susceptibility	ISO	RGD:736835	D	RGD:7240710	20260729	OMIM			
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736835	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:93	language disorder		ISO	RGD:736835	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:12673791|PMID:18363739|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28801073|PMID:32489884|PMID:34539730|PMID:8682496|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:936	brain disease		ISO	RGD:736835	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Encephalopathy | ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4	PMID:10090476|PMID:10398215|PMID:10862092|PMID:10873395|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:19762733|PMID:20301431|PMID:20810031|PMID:21227726|PMID:21709843|PMID:21913903|PMID:22652984|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28492532|PMID:28516040|PMID:28779239|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30455135|PMID:30609409|PMID:31372341|PMID:32295037|PMID:32528171|PMID:33123633|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9562964|PMID:9600456|PMID:9758712
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:936	brain disease		ISO	RGD:736835	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Encephalopathy | ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4	PMID:10090476|PMID:10398215|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:20301431|PMID:20543534|PMID:20810031|PMID:20830526|PMID:20934285|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:27067077|PMID:27123472|PMID:27578510|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30609409|PMID:30957255|PMID:31372341|PMID:31770251|PMID:32295037|PMID:32489884|PMID:32528171|PMID:33123633|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9562964|PMID:9600456|PMID:9758712
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:936	brain disease		ISO	RGD:736835	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4	PMID:10090476|PMID:10398215|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:20301431|PMID:20543534|PMID:20810031|PMID:20830526|PMID:20934285|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:27067077|PMID:27123472|PMID:27578510|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30609409|PMID:30957255|PMID:31372341|PMID:31770251|PMID:32295037|PMID:32489884|PMID:32528171|PMID:33123633|PMID:34063237|PMID:34112556|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9562964|PMID:9600456|PMID:9758712
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:936	brain disease		ISO	RGD:736835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4	PMID:10090476|PMID:10607472|PMID:10734268|PMID:10862092|PMID:10873395|PMID:11257506|PMID:11855939|PMID:12673791|PMID:12707442|PMID:14605500|PMID:1528846|PMID:15642848|PMID:15754283|PMID:15811315|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18645163|PMID:18925671|PMID:19762733|PMID:20301431|PMID:20810031|PMID:20830526|PMID:20934285|PMID:21227726|PMID:21697855|PMID:21913903|PMID:22494076|PMID:22854105|PMID:23700290|PMID:23757202|PMID:24398345|PMID:24602495|PMID:25741868|PMID:25919294|PMID:26467025|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28801073|PMID:29429925|PMID:29552494|PMID:30455135|PMID:31372341|PMID:32489884|PMID:34063237|PMID:34112556|PMID:34539730|PMID:38650450|PMID:39429887|PMID:39875687|PMID:8358442|PMID:8651281|PMID:8682496|PMID:9600456|PMID:9758712
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:936	brain disease		ISO	RGD:736835	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14615409|PMID:1528846|PMID:15642848|PMID:15754283|PMID:15776096|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17936304|PMID:18363739|PMID:18550408|PMID:18925671|PMID:19335026|PMID:19762733|PMID:20301431|PMID:20810031|PMID:20830526|PMID:21227726|PMID:21913903|PMID:22494076|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23700290|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28054946|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29429925|PMID:2947882|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30149802|PMID:30455135|PMID:30609409|PMID:30897730|PMID:31191612|PMID:31372341|PMID:31428121|PMID:32295037|PMID:32489884|PMID:34063237|PMID:34112556|PMID:34539730|PMID:34958143|PMID:34975387|PMID:37032731|PMID:38650450|PMID:39653856|PMID:39875687|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9600456
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:936	brain disease	susceptibility	ISO	RGD:736835	D	RGD:7240710	20260729	OMIM			
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9406	hypopituitarism		ISO	RGD:736835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypopituitarism	PMID:25741868
8747650	Cpt2	carnitine palmitoyltransferase 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
8747675	Nlrp4	NLR family pyrin domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1323147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8747675	Nlrp4	NLR family pyrin domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1323147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8747675	Nlrp4	NLR family pyrin domain containing 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8747675	Nlrp4	NLR family pyrin domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747675	Nlrp4	NLR family pyrin domain containing 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1323147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8747687	Nfe2l1	NFE2 like bZIP transcription factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8747687	Nfe2l1	NFE2 like bZIP transcription factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8747687	Nfe2l1	NFE2 like bZIP transcription factor 1	gene	DOID:3275	thymoma		ISO	RGD:1323705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8747687	Nfe2l1	NFE2 like bZIP transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747687	Nfe2l1	NFE2 like bZIP transcription factor 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1323705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8747687	Nfe2l1	NFE2 like bZIP transcription factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323706	D	RGD:9068941	20220825	MouseDO		OMIM:114550	
8747687	Nfe2l1	NFE2 like bZIP transcription factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8747687	Nfe2l1	NFE2 like bZIP transcription factor 1	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:1311972	D	RGD:9068941	20231221	RGD			PMID:20501665|REF_RGD_ID:10003160
8747687	Nfe2l1	NFE2 like bZIP transcription factor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323705	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8747687	Nfe2l1	NFE2 like bZIP transcription factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8747687	Nfe2l1	NFE2 like bZIP transcription factor 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1323706	D	RGD:9068941	20240425	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
8747701	Arhgap15	Rho GTPase activating protein 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8747701	Arhgap15	Rho GTPase activating protein 15	gene	DOID:0060058	lymphoma		ISO	RGD:1348610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8747701	Arhgap15	Rho GTPase activating protein 15	gene	DOID:10534	stomach cancer		ISO	RGD:1348610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stomach cancer	
8747701	Arhgap15	Rho GTPase activating protein 15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8747701	Arhgap15	Rho GTPase activating protein 15	gene	DOID:1324	lung cancer		ISO	RGD:1348610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8747701	Arhgap15	Rho GTPase activating protein 15	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8747701	Arhgap15	Rho GTPase activating protein 15	gene	DOID:4362	cervical cancer		ISO	RGD:1348610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8747701	Arhgap15	Rho GTPase activating protein 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1348610	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8747701	Arhgap15	Rho GTPase activating protein 15	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8747701	Arhgap15	Rho GTPase activating protein 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747701	Arhgap15	Rho GTPase activating protein 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8747701	Arhgap15	Rho GTPase activating protein 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:0050127	sinusitis		ISO	RGD:735638	D	RGD:9068941	20200609	RGD			PMID:21711960|REF_RGD_ID:6483796
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735638	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:735638	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22098627|REF_RGD_ID:6484116
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:10534	stomach cancer		ISO	RGD:735638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:10591	pre-eclampsia		ISO	RGD:735638	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:21722073|REF_RGD_ID:6484119
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:11729	Lyme disease		ISO	RGD:733132	D	RGD:9068941	20200609	RGD			PMID:19461880|REF_RGD_ID:6483813
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:11729	Lyme disease		ISO	RGD:735638	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin	PMID:19461880|REF_RGD_ID:6483813
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:12849	autistic disorder		ISO	RGD:735638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19360663|PMID:21328570
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:1287	cardiovascular system disease		ISO	RGD:735638	D	RGD:9068941	20200609	RGD			PMID:22119508|REF_RGD_ID:6483791
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:14115	toxic shock syndrome		ISO	RGD:733132	D	RGD:9068941	20200609	RGD			PMID:20693875|REF_RGD_ID:6484122
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:735638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22261521
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:735638	D	RGD:9068941	20200609	RGD			PMID:14595671|REF_RGD_ID:1549414
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:1824	status epilepticus		ISO	RGD:620597	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus	PMID:19527776|REF_RGD_ID:6483810
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:1909	melanoma		ISO	RGD:735638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:2043	hepatitis B	severity	ISO	RGD:735638	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:18691743|REF_RGD_ID:6483828
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:2957	pulmonary tuberculosis	severity	ISO	RGD:735638	D	RGD:9068941	20200609	RGD			PMID:18359089|REF_RGD_ID:6483832
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:305	carcinoma		ISO	RGD:735638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15302576
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:620597	D	RGD:9068941	20200609	RGD		protein:increased expression:bronchus	PMID:17651644|REF_RGD_ID:6484146
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:3526	cerebral infarction		ISO	RGD:733132	D	RGD:9068941	20200609	RGD			PMID:20138161|REF_RGD_ID:6483804
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:4362	cervical cancer		ISO	RGD:735638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:735638	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:5052	melioidosis		ISO	RGD:733132	D	RGD:9068941	20200609	RGD			PMID:20142364|REF_RGD_ID:6484129
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:5052	melioidosis		ISO	RGD:735638	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:blood, granulocyte, monocyte	PMID:20142364|REF_RGD_ID:6484129
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:5082	liver cirrhosis	disease_progression	ISO	RGD:735638	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22098627|REF_RGD_ID:6484116
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:735638	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:21384094|REF_RGD_ID:6484120
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:526	human immunodeficiency virus infectious disease	disease_progression	ISO	RGD:735638	D	RGD:9068941	20200609	RGD			PMID:20229356|REF_RGD_ID:6484128
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:5844	myocardial infarction		ISO	RGD:620597	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:myocardium	PMID:20952728|REF_RGD_ID:6484133
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:5844	myocardial infarction		ISO	RGD:735638	D	RGD:9068941	20200609	RGD			PMID:12393744|REF_RGD_ID:1580897
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:649	prion disease		ISO	RGD:733132	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus	PMID:19459212|REF_RGD_ID:6483816
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:735638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:735638	D	RGD:9068941	20200609	RGD			PMID:22011479|REF_RGD_ID:6484117
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:783	end stage renal disease		ISO	RGD:735638	D	RGD:9068941	20200609	RGD			PMID:19926968|REF_RGD_ID:6483806
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:8283	peritonitis		ISO	RGD:733132	D	RGD:9068941	20200609	RGD			PMID:20693875|REF_RGD_ID:6484122
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:735638	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:1304722|REF_RGD_ID:6483787
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:8778	Crohn's disease		ISO	RGD:735638	D	RGD:9068941	20200609	RGD			PMID:21114432|REF_RGD_ID:6483800
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:733132	D	RGD:9068941	20200609	RGD			PMID:21573723|REF_RGD_ID:6483797
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:9000169	Systemic Inflammatory Response Syndrome	disease_progression	ISO	RGD:735638	D	RGD:9068941	20200609	RGD			PMID:18197443|REF_RGD_ID:6484114
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:9000310	Lung Injury		ISO	RGD:733132	D	RGD:9068941	20200609	RGD		associated with Hyperoxia	PMID:19435793|REF_RGD_ID:6483820
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:733132	D	RGD:9068941	20200609	RGD		associated with Ovarian Neoplasms	PMID:22577342|REF_RGD_ID:6483788
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:735638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15659795
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:9001472	Nasal Polyps		ISO	RGD:735638	D	RGD:9068941	20200609	RGD		associated with Sinusitis	PMID:21711960|REF_RGD_ID:6483796
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15302576
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:733132	D	RGD:9068941	20200609	RGD			PMID:18606671|REF_RGD_ID:6483829
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:9004484	Sepsis		ISO	RGD:735638	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:22550400|REF_RGD_ID:6483789
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:620597	D	RGD:9068941	20200609	RGD			PMID:12198772|REF_RGD_ID:729319
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:735638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22261521
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:9005036	Bacteremia	severity	ISO	RGD:735638	D	RGD:9068941	20200609	RGD			PMID:21332843|REF_RGD_ID:6483799
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:9005372	Inflammation		ISO	RGD:735638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22261521
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult	
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:9256	colorectal cancer		ISO	RGD:735638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:9352	type 2 diabetes mellitus	onset	ISO	RGD:735638	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:22050462|REF_RGD_ID:6483792
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:9471	meningitis	disease_progression	ISO	RGD:735638	D	RGD:9068941	20200609	RGD			PMID:21971819|REF_RGD_ID:6484118
8747724	Plaur	plasminogen activator, urokinase receptor	gene	DOID:9970	obesity		ISO	RGD:735638	D	RGD:9068941	20200609	RGD			PMID:21372607|REF_RGD_ID:6484121
8747732	Pappa2	pappalysin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8747732	Pappa2	pappalysin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8747732	Pappa2	pappalysin 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312133	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8747732	Pappa2	pappalysin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8747732	Pappa2	pappalysin 2	gene	DOID:1115	sarcoma		ISO	RGD:1312133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8747732	Pappa2	pappalysin 2	gene	DOID:1324	lung cancer		ISO	RGD:1312133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8747732	Pappa2	pappalysin 2	gene	DOID:1909	melanoma		ISO	RGD:1312133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8747732	Pappa2	pappalysin 2	gene	DOID:3275	thymoma		ISO	RGD:1312133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8747732	Pappa2	pappalysin 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8747732	Pappa2	pappalysin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8747732	Pappa2	pappalysin 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8747732	Pappa2	pappalysin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747732	Pappa2	pappalysin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8747732	Pappa2	pappalysin 2	gene	DOID:630	genetic disease		ISO	RGD:1312133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8747732	Pappa2	pappalysin 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8747732	Pappa2	pappalysin 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1312133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8747732	Pappa2	pappalysin 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1312133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8747732	Pappa2	pappalysin 2	gene	DOID:9005722	SHORT STATURE, DAUBER-ARGENTE TYPE		ISO	RGD:1312133	D	RGD:7240710	20211103	OMIM			
8747732	Pappa2	pappalysin 2	gene	DOID:9005722	SHORT STATURE, DAUBER-ARGENTE TYPE		ISO	RGD:1312133	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PAPPA2-related condition | ClinVar Annotator: match by term: SHORT STATURE, DAUBER-ARGENTE TYPE | ClinVar Annotator: match by term: Short stature, Dauber-Argente type	PMID:25741868
8747732	Pappa2	pappalysin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8747732	Pappa2	pappalysin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8747759	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8747759	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:10534	stomach cancer		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8747759	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8747759	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:1324	lung cancer		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8747759	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8747759	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:4362	cervical cancer		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8747759	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8747759	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8747759	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8747759	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8747759	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8747759	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8747775	Sh3bp5l	SH3 binding domain protein 5 like	gene	DOID:10534	stomach cancer		ISO	RGD:1606500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8747775	Sh3bp5l	SH3 binding domain protein 5 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8747775	Sh3bp5l	SH3 binding domain protein 5 like	gene	DOID:4362	cervical cancer		ISO	RGD:1606500	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8747775	Sh3bp5l	SH3 binding domain protein 5 like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606500	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8747775	Sh3bp5l	SH3 binding domain protein 5 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747775	Sh3bp5l	SH3 binding domain protein 5 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8747775	Sh3bp5l	SH3 binding domain protein 5 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8747775	Sh3bp5l	SH3 binding domain protein 5 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8747799	Spatc1	spermatogenesis and centriole associated 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8747799	Spatc1	spermatogenesis and centriole associated 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8747799	Spatc1	spermatogenesis and centriole associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8747811	Icos	inducible T cell costimulator	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1344621	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437031
8747811	Icos	inducible T cell costimulator	gene	DOID:0060025	immunoglobulin alpha deficiency	susceptibility	ISO	RGD:1344621	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype: :rs4521021,rs10172036(human)	PMID:19020530|REF_RGD_ID:11344917
8747811	Icos	inducible T cell costimulator	gene	DOID:0060180	colitis		ISO	RGD:620123	D	RGD:9068941	20200609	RGD		protein:increased expression:T-cell	PMID:14731127|REF_RGD_ID:1624274
8747811	Icos	inducible T cell costimulator	gene	DOID:0081144	common variable immunodeficiency 1		ISO	RGD:1344621	D	RGD:7240710	20190710	OMIM			
8747811	Icos	inducible T cell costimulator	gene	DOID:0081144	common variable immunodeficiency 1		ISO	RGD:1344621	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Common variable immunodeficiency 1 | ClinVar Annotator: match by term: IMMUNODEFICIENCY, COMMON VARIABLE, 1 | ClinVar Annotator: match by term: Immunodeficiency, common variable, 1	PMID:11343122|PMID:11956294|PMID:12577056|PMID:16199547|PMID:17576681|PMID:19380800|PMID:20817864|PMID:25741868|PMID:28492532|PMID:31858365|PMID:32499645|PMID:9536098
8747811	Icos	inducible T cell costimulator	gene	DOID:10608	celiac disease		ISO	RGD:1344621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Celiac disease	PMID:11343122|PMID:11956294|PMID:12577056|PMID:16199547|PMID:19380800|PMID:20817864|PMID:25741868|PMID:28492532|PMID:31858365|PMID:32499645
8747811	Icos	inducible T cell costimulator	gene	DOID:10608	celiac disease	susceptibility	ISO	RGD:1344621	D	RGD:9068941	20200609	RGD		DNA:SNP,haplotype: :rs10932037(human)	PMID:19020530|REF_RGD_ID:11344917
8747811	Icos	inducible T cell costimulator	gene	DOID:12177	common variable immunodeficiency		ISO	RGD:1344621	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8747811	Icos	inducible T cell costimulator	gene	DOID:12177	common variable immunodeficiency		ISO	RGD:732863	D	RGD:9068941	20220825	MouseDO		OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767	
8747811	Icos	inducible T cell costimulator	gene	DOID:13141	uveitis		ISO	RGD:620123	D	RGD:9068941	20200609	RGD		protein:increased expression:spleen, lymph node, retina	PMID:16601981|REF_RGD_ID:1624269
8747811	Icos	inducible T cell costimulator	gene	DOID:1909	melanoma		ISO	RGD:1344621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8747811	Icos	inducible T cell costimulator	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8747811	Icos	inducible T cell costimulator	gene	DOID:2349	arteriosclerosis		ISO	RGD:732863	D	RGD:9068941	20200609	RGD			PMID:17060381|REF_RGD_ID:1624268
8747811	Icos	inducible T cell costimulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747811	Icos	inducible T cell costimulator	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1344621	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:11343122|PMID:11956294|PMID:12577056|PMID:16199547|PMID:19380800|PMID:20817864|PMID:25741868|PMID:28492532|PMID:31858365|PMID:32499645
8747811	Icos	inducible T cell costimulator	gene	DOID:630	genetic disease		ISO	RGD:1344621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8747811	Icos	inducible T cell costimulator	gene	DOID:820	myocarditis		ISO	RGD:620123	D	RGD:9068941	20200609	RGD			PMID:12829180|REF_RGD_ID:1624275
8747811	Icos	inducible T cell costimulator	gene	DOID:9002823	Gram-Positive Bacterial Infections		ISO	RGD:732863	D	RGD:9068941	20200609	RGD			PMID:12421962|REF_RGD_ID:1624276
8747811	Icos	inducible T cell costimulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8747822	Gdap1l1	ganglioside induced differentiation associated protein 1 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8747822	Gdap1l1	ganglioside induced differentiation associated protein 1 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8747822	Gdap1l1	ganglioside induced differentiation associated protein 1 like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8747822	Gdap1l1	ganglioside induced differentiation associated protein 1 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747822	Gdap1l1	ganglioside induced differentiation associated protein 1 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8747847	Mypn	myopalladin	gene	DOID:0050450	Gitelman syndrome		ISO	RGD:1318320	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria	PMID:25741868|PMID:28492532
8747847	Mypn	myopalladin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: cardiomyopathy	PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
8747847	Mypn	myopalladin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8747847	Mypn	myopalladin	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1318320	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
8747847	Mypn	myopalladin	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:25741868|PMID:26084686|PMID:28492532|PMID:28798025|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32880476|PMID:35284542
8747847	Mypn	myopalladin	gene	DOID:0081337	congenital myopathy		ISO	RGD:1318320	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:16199547|PMID:25741868|PMID:25741902|PMID:28017374|PMID:28492532
8747847	Mypn	myopalladin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1318320	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:25741868|PMID:28492532|PMID:32880476
8747847	Mypn	myopalladin	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	PMID:25741868|PMID:28492532
8747847	Mypn	myopalladin	gene	DOID:0110443	dilated cardiomyopathy 1B		ISO	RGD:1318320	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial	PMID:22286171|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532
8747847	Mypn	myopalladin	gene	DOID:0110445	dilated cardiomyopathy 1KK		ISO	RGD:1318320	D	RGD:7240710	20180130	OMIM			
8747847	Mypn	myopalladin	gene	DOID:0110445	dilated cardiomyopathy 1KK		ISO	RGD:1318320	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1KK | ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK | ClinVar Annotator: match by term: MYPN-related condition	PMID:16199547|PMID:17576681|PMID:18006477|PMID:19466753|PMID:21455759|PMID:22286171|PMID:22337857|PMID:22892539|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26458567|PMID:27532257|PMID:27896284|PMID:28017374|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28798025|PMID:30165862|PMID:30260051|PMID:30471092|PMID:30775854|PMID:30847666|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32140910|PMID:32746448|PMID:32880476|PMID:33658040|PMID:33662488|PMID:33802723|PMID:34184449|PMID:34302607|PMID:35026164|PMID:35284542|PMID:35885997|PMID:38540378|PMID:9536098
8747847	Mypn	myopalladin	gene	DOID:0110933	nemaline myopathy 11		ISO	RGD:1318320	D	RGD:7240710	20190315	OMIM			
8747847	Mypn	myopalladin	gene	DOID:0110933	nemaline myopathy 11		ISO	RGD:1318320	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: MYPN-related myopathy | ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive	PMID:17576681|PMID:18006477|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24558114|PMID:25741868|PMID:25741905|PMID:26498160|PMID:26899768|PMID:27896284|PMID:28017374|PMID:28220527|PMID:28416588|PMID:28427417|PMID:28492532|PMID:29247119|PMID:29447731|PMID:30471092|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31983221|PMID:32880476|PMID:33297573|PMID:33906374|PMID:34088380|PMID:34184449|PMID:34797172|PMID:35026164|PMID:35581137|PMID:36178741|PMID:36935760|PMID:9536098
8747847	Mypn	myopalladin	gene	DOID:0110933	nemaline myopathy 11		ISO	RGD:1318320	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 24 | ClinVar Annotator: match by term: MYPN-related myopathy | ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive	PMID:17576681|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26458567|PMID:28017374|PMID:28492532|PMID:30260051|PMID:30847666|PMID:31983221|PMID:34302607|PMID:9536098
8747847	Mypn	myopalladin	gene	DOID:0111425	familial restrictive cardiomyopathy 1		ISO	RGD:1318320	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1	PMID:25741868|PMID:28492532
8747847	Mypn	myopalladin	gene	DOID:10534	stomach cancer		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8747847	Mypn	myopalladin	gene	DOID:1115	sarcoma		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8747847	Mypn	myopalladin	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532|PMID:31513939
8747847	Mypn	myopalladin	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868
8747847	Mypn	myopalladin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:26899768|PMID:27884173|PMID:27896284|PMID:28416588|PMID:28492532|PMID:30012837|PMID:31333075|PMID:31568572
8747847	Mypn	myopalladin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:26899768|PMID:27884173|PMID:27896284|PMID:28416588|PMID:28492532|PMID:30012837|PMID:30847666|PMID:31333075|PMID:31568572
8747847	Mypn	myopalladin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26383259|PMID:26498160|PMID:26899768|PMID:27194543|PMID:27884173|PMID:27896284|PMID:28416588|PMID:28492532|PMID:30012837|PMID:30764827|PMID:30847666|PMID:31333075|PMID:31524317|PMID:31568572|PMID:32880476|PMID:33049752|PMID:34797172|PMID:35581137|PMID:36178741|PMID:36935760|PMID:37936622
8747847	Mypn	myopalladin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26383259|PMID:26498160|PMID:26899768|PMID:27194543|PMID:27884173|PMID:27896284|PMID:28416588|PMID:28492532|PMID:29773157|PMID:30012837|PMID:30764827|PMID:30847666|PMID:31333075|PMID:31524317|PMID:31568572|PMID:31983221|PMID:32826072|PMID:32880476|PMID:33049752|PMID:34797172|PMID:35581137|PMID:36178741|PMID:36935760|PMID:37904629|PMID:37936622
8747847	Mypn	myopalladin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, dilated | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26383259|PMID:27194543|PMID:28416588|PMID:28492532|PMID:29773157|PMID:30012837|PMID:30764827|PMID:30847666|PMID:31333075|PMID:31524317|PMID:31568572|PMID:37904629|PMID:37936622
8747847	Mypn	myopalladin	gene	DOID:1324	lung cancer		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8747847	Mypn	myopalladin	gene	DOID:1909	melanoma		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8747847	Mypn	myopalladin	gene	DOID:1969	cerebral palsy		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cerebral palsy	PMID:25741868
8747847	Mypn	myopalladin	gene	DOID:2843	long QT syndrome		ISO	RGD:1318320	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Long QT Syndrome	PMID:25741868|PMID:28492532
8747847	Mypn	myopalladin	gene	DOID:3191	nemaline myopathy		ISO	RGD:1318320	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy	PMID:25741868|PMID:28220527
8747847	Mypn	myopalladin	gene	DOID:3275	thymoma		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8747847	Mypn	myopalladin	gene	DOID:397	restrictive cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Restrictive cardiomyopathy	PMID:25741868|PMID:28492532|PMID:30775854|PMID:31568572
8747847	Mypn	myopalladin	gene	DOID:4362	cervical cancer		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8747847	Mypn	myopalladin	gene	DOID:5041	esophageal cancer		ISO	RGD:1318320	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8747847	Mypn	myopalladin	gene	DOID:6000	congestive heart failure		ISO	RGD:1318320	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Heart failure	PMID:22286171|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532
8747847	Mypn	myopalladin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8747847	Mypn	myopalladin	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1318320	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:25741868|PMID:28492532
8747847	Mypn	myopalladin	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1318320	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
8747847	Mypn	myopalladin	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cognitive impairment	
8747847	Mypn	myopalladin	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1318320	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:25741868|PMID:28492532|PMID:29447731|PMID:30847666|PMID:31110529|PMID:33297573
8747847	Mypn	myopalladin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
8747847	Mypn	myopalladin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8747847	Mypn	myopalladin	gene	DOID:9007820	Sudden Death		ISO	RGD:1318320	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death	PMID:25741868|PMID:28492532
8747847	Mypn	myopalladin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8747871	Mmrn2	multimerin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8747871	Mmrn2	multimerin 2	gene	DOID:1115	sarcoma		ISO	RGD:1322933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8747871	Mmrn2	multimerin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8747871	Mmrn2	multimerin 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8747871	Mmrn2	multimerin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322933	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8747871	Mmrn2	multimerin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747871	Mmrn2	multimerin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8747871	Mmrn2	multimerin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:10283	prostate cancer		ISO	RGD:1312585	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:10283	prostate cancer		ISO	RGD:1312585	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:1059	intellectual disability		ISO	RGD:1312585	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32427099|PMID:32439617|PMID:34438093|PMID:35146895|PMID:36648066
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:1059	intellectual disability		ISO	RGD:1312585	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:10629	microphthalmia		ISO	RGD:1312586	D	RGD:9068941	20220825	MouseDO			
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:10907	microcephaly		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:1115	sarcoma		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:1324	lung cancer		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:1826	epilepsy		ISO	RGD:1312585	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:1909	melanoma		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:540	strabismus		ISO	RGD:1312585	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:543	dystonia		ISO	RGD:1312585	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:630	genetic disease		ISO	RGD:1312585	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:670	amphetamine abuse		ISO	RGD:1312585	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:83	cataract		ISO	RGD:1312586	D	RGD:9068941	20220825	MouseDO		OMIM:601371	
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312585	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:31278393|PMID:32427099
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:9005266	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES		ISO	RGD:1312585	D	RGD:7240710	20230830	OMIM			
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:9005266	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES		ISO	RGD:1312585	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures	PMID:25741868|PMID:31278393|PMID:32427099|PMID:35146895|PMID:36648066
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32427099|PMID:32439617|PMID:34438093|PMID:35146895|PMID:36648066
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:9006366	Cataract 50 with or without Glaucoma		ISO	RGD:1312585	D	RGD:7240710	20230505	OMIM			
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:9006366	Cataract 50 with or without Glaucoma		ISO	RGD:1312585	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: TRPM3-related condition	PMID:25741868
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312585	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8747882	Trpm3	transient receptor potential cation channel subfamily M member 3	gene	DOID:9970	obesity		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
8747959	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:0050144	Kartagener syndrome		ISO	RGD:1602080	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Kartagener syndrome	PMID:17576681|PMID:23261302|PMID:23261303|PMID:25741868|PMID:27637300|PMID:28492532|PMID:9536098
8747959	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1602080	D	RGD:9068941	20231005	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8747959	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:0110594	primary ciliary dyskinesia 1		ISO	RGD:1602080	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS	PMID:17576681|PMID:23261302|PMID:23261303|PMID:25741868|PMID:27637300|PMID:28492532|PMID:9536098
8747959	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:0110625	primary ciliary dyskinesia 20		ISO	RGD:1602080	D	RGD:7240710	20180130	OMIM			
8747959	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:0110625	primary ciliary dyskinesia 20		ISO	RGD:1602080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 20 | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 20, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: ODAD1-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 20	PMID:16199547|PMID:17576681|PMID:23261302|PMID:23261303|PMID:25741868|PMID:25802884|PMID:27637300|PMID:28492532|PMID:30067075|PMID:30291279|PMID:32111882|PMID:33577779|PMID:33715250|PMID:34134972|PMID:9536098
8747959	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:0111406	Fraser syndrome 3		ISO	RGD:1602080	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fraser syndrome 3	PMID:25741868|PMID:28492532
8747959	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1602080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8747959	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8747959	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8747959	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747959	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1602080	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia | ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME	PMID:17576681|PMID:23261302|PMID:23261303|PMID:25741868|PMID:27637300|PMID:28492532|PMID:9536098
8747959	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:9005781	Adams-Oliver Syndrome 5		ISO	RGD:1602080	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adams-Oliver syndrome 5	PMID:17576681|PMID:23261302|PMID:23261303|PMID:25741868|PMID:27637300|PMID:28492532|PMID:9536098
8747959	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602080	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:23261302|PMID:23261303|PMID:25741868|PMID:27637300|PMID:28492532|PMID:9536098
8747959	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1602080	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:23261302|PMID:23261303|PMID:25640679|PMID:25741868|PMID:27637300|PMID:28492532|PMID:30067075|PMID:30291279|PMID:31213628|PMID:33715250|PMID:9536098
8747959	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:9563	bronchiectasis		ISO	RGD:1602080	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS	PMID:17576681|PMID:23261302|PMID:23261303|PMID:25741868|PMID:27637300|PMID:28492532|PMID:9536098
8747976	Entpd5	ectonucleoside triphosphate diphosphohydrolase 5 (inactive)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8747976	Entpd5	ectonucleoside triphosphate diphosphohydrolase 5 (inactive)	gene	DOID:1909	melanoma		ISO	RGD:1343601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8747976	Entpd5	ectonucleoside triphosphate diphosphohydrolase 5 (inactive)	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8747976	Entpd5	ectonucleoside triphosphate diphosphohydrolase 5 (inactive)	gene	DOID:3275	thymoma		ISO	RGD:1343601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8747976	Entpd5	ectonucleoside triphosphate diphosphohydrolase 5 (inactive)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8747976	Entpd5	ectonucleoside triphosphate diphosphohydrolase 5 (inactive)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8747976	Entpd5	ectonucleoside triphosphate diphosphohydrolase 5 (inactive)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8747976	Entpd5	ectonucleoside triphosphate diphosphohydrolase 5 (inactive)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8748006	Gask1b	golgi associated kinase 1B	gene	DOID:0080600	COVID-19		ISO	RGD:1605394	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8748006	Gask1b	golgi associated kinase 1B	gene	DOID:2394	ovarian cancer		ISO	RGD:1605394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8748006	Gask1b	golgi associated kinase 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1605394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8748006	Gask1b	golgi associated kinase 1B	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1605394	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8748006	Gask1b	golgi associated kinase 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8748006	Gask1b	golgi associated kinase 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8748015	Sel1l	SEL1L adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8748015	Sel1l	SEL1L adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:12228548	D	RGD:9068941	20250116	OMIA		Ataxia, cerebellar, progressive early-onset, SEL1L-related	PMID:22719266|PMID:37341581|PMID:38003185
8748015	Sel1l	SEL1L adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748015	Sel1l	SEL1L adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:10534	stomach cancer		ISO	RGD:1351070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8748015	Sel1l	SEL1L adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8748015	Sel1l	SEL1L adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:1115	sarcoma		ISO	RGD:1351070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8748015	Sel1l	SEL1L adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1351070	D	RGD:9068941	20200609	RGD			PMID:14508516|REF_RGD_ID:2317190
8748015	Sel1l	SEL1L adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:1909	melanoma		ISO	RGD:1351070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8748015	Sel1l	SEL1L adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:5041	esophageal cancer		ISO	RGD:1351070	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8748015	Sel1l	SEL1L adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8748015	Sel1l	SEL1L adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748015	Sel1l	SEL1L adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8748015	Sel1l	SEL1L adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8748015	Sel1l	SEL1L adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8748015	Sel1l	SEL1L adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:9009320	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, POOR GROWTH, DYSMORPHIC FACIES, AND AGAMMAGLOBULINEMIA		ISO	RGD:1351070	D	RGD:7240710	20250409	OMIM			
8748015	Sel1l	SEL1L adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:9009320	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, POOR GROWTH, DYSMORPHIC FACIES, AND AGAMMAGLOBULINEMIA		ISO	RGD:1351070	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia	
8748015	Sel1l	SEL1L adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:9009321	NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, ABSENT SPEECH, PROGRESSIVE ATAXIA, AND DYSMORPHIC FACIES		ISO	RGD:1351070	D	RGD:7240710	20250409	OMIM			
8748015	Sel1l	SEL1L adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:9009321	NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, ABSENT SPEECH, PROGRESSIVE ATAXIA, AND DYSMORPHIC FACIES		ISO	RGD:1351070	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies	
8748015	Sel1l	SEL1L adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8748048	Strn	striatin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8748048	Strn	striatin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748048	Strn	striatin	gene	DOID:10534	stomach cancer		ISO	RGD:736385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8748048	Strn	striatin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8748048	Strn	striatin	gene	DOID:1115	sarcoma		ISO	RGD:736385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8748048	Strn	striatin	gene	DOID:1324	lung cancer		ISO	RGD:736385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8748048	Strn	striatin	gene	DOID:1909	melanoma		ISO	RGD:736385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8748048	Strn	striatin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8748048	Strn	striatin	gene	DOID:3275	thymoma		ISO	RGD:736385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8748048	Strn	striatin	gene	DOID:4362	cervical cancer		ISO	RGD:736385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8748048	Strn	striatin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8748048	Strn	striatin	gene	DOID:5041	esophageal cancer		ISO	RGD:736385	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8748048	Strn	striatin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748048	Strn	striatin	gene	DOID:9000998	Brain Injuries		ISO	RGD:3782	D	RGD:9068941	20200609	RGD			PMID:16351572|REF_RGD_ID:2311293
8748048	Strn	striatin	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:736385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8748048	Strn	striatin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8748072	Fpgt	fucose-1-phosphate guanylyltransferase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1342569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23797736
8748083	Znf584	zinc finger protein 584	gene	DOID:1115	sarcoma		ISO	RGD:1348200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8748083	Znf584	zinc finger protein 584	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348200	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8748083	Znf584	zinc finger protein 584	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748083	Znf584	zinc finger protein 584	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8748095	Slc2a13	solute carrier family 2 member 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8748095	Slc2a13	solute carrier family 2 member 13	gene	DOID:303	substance-related disorder		ISO	RGD:731999	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8748095	Slc2a13	solute carrier family 2 member 13	gene	DOID:3275	thymoma		ISO	RGD:731999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8748095	Slc2a13	solute carrier family 2 member 13	gene	DOID:5041	esophageal cancer		ISO	RGD:731999	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8748095	Slc2a13	solute carrier family 2 member 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:0060815	Wieacker-Wolff syndrome		ISO	RGD:1349237	D	RGD:7240710	20180321	OMIM			
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:0060815	Wieacker-Wolff syndrome		ISO	RGD:1349237	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Miles-Carpenter syndrome | ClinVar Annotator: match by term: WIEACKER-WOLFF SYNDROME | ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability | ClinVar Annotator: match by term: ZC4H2-related condition	PMID:17576681|PMID:23623388|PMID:25644381|PMID:25741868|PMID:26056227|PMID:28492532|PMID:28814648|PMID:31206972|PMID:32860008|PMID:33739554|PMID:36250278|PMID:38703036|PMID:39032379|PMID:9536098
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:0061015	female-restricted Wieacker-Wolff syndrome		ISO	RGD:1349237	D	RGD:7240710	20200826	OMIM			
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:0061015	female-restricted Wieacker-Wolff syndrome		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED | ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted	PMID:23623388|PMID:25741868|PMID:28492532|PMID:31206972
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:0070297	primary microcephaly		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis | ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:0111827	X-linked spinal muscular atrophy 2		ISO	RGD:1349237	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23623388
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:10376	amblyopia		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:1059	intellectual disability		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:28492532
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:10907	microcephaly		ISO	RGD:1349237	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26056227
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:1115	sarcoma		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:11383	cryptorchidism		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:11782	astigmatism		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:11836	clubfoot		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:1657	ventricular septal defect		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:1826	epilepsy		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:1827	generalized epilepsy		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:28492532
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:2074	intestinal perforation		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intestinal perforation	PMID:25741868
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:420	hypertrichosis		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:585	nephrolithiasis		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis	PMID:25741868
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:630	genetic disease		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23623388|PMID:25644381|PMID:25741868|PMID:26056227|PMID:28492532|PMID:28814648|PMID:31206972|PMID:33739554
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:674	cleft palate		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:8488	polyhydramnios		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:23623388|PMID:25644381|PMID:25741868|PMID:26056227|PMID:28492532|PMID:28814648|PMID:31206972|PMID:33739554
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:9005077	Joint Instability		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:25741868
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:25741868|PMID:31206972
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:9005616	Micrognathism		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:9007661	Dwarfism		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:936	brain disease		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile encephalopathy	PMID:28492532
8748141	Zc4h2	zinc finger C4H2-type containing	gene	DOID:9840	esotropia		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868
8748158	Slc25a27	solute carrier family 25 member 27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748158	Slc25a27	solute carrier family 25 member 27	gene	DOID:10534	stomach cancer		ISO	RGD:1344458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8748158	Slc25a27	solute carrier family 25 member 27	gene	DOID:1115	sarcoma		ISO	RGD:1344458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8748158	Slc25a27	solute carrier family 25 member 27	gene	DOID:5419	schizophrenia	susceptibility	ISO	RGD:1344458	D	RGD:9068941	20200609	RGD		DNA:SNPs:intron, 3' utr: (rs10807344, rs2270450)	PMID:17066476|REF_RGD_ID:6482844
8748158	Slc25a27	solute carrier family 25 member 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748158	Slc25a27	solute carrier family 25 member 27	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:732894	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:18534681|REF_RGD_ID:6482843
8748222	Larp6	La ribonucleoprotein 6, translational regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748237	Hlcs	holocarboxylase synthetase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748237	Hlcs	holocarboxylase synthetase	gene	DOID:0090028	familial isolated deficiency of vitamin E		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E	PMID:25741868
8748237	Hlcs	holocarboxylase synthetase	gene	DOID:3070	high grade glioma		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8748237	Hlcs	holocarboxylase synthetase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
8748237	Hlcs	holocarboxylase synthetase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:10653324|PMID:11735028|PMID:17576681|PMID:25741868|PMID:27114915|PMID:28492532|PMID:33123633|PMID:9536098
8748237	Hlcs	holocarboxylase synthetase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8748237	Hlcs	holocarboxylase synthetase	gene	DOID:630	genetic disease		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28492532
8748237	Hlcs	holocarboxylase synthetase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8748237	Hlcs	holocarboxylase synthetase	gene	DOID:859	holocarboxylase synthetase deficiency		ISO	RGD:1320489	D	RGD:7240710	20180130	OMIM			
8748237	Hlcs	holocarboxylase synthetase	gene	DOID:859	holocarboxylase synthetase deficiency		ISO	RGD:1320489	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY | ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency | ClinVar Annotator: match by term: MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ONSET | ClinVar Annotator: match by term: holocarboxylase synthetase deficiency	PMID:10068510|PMID:10190325|PMID:10590022|PMID:10653324|PMID:11124959|PMID:11185745|PMID:11735028|PMID:12124727|PMID:12633764|PMID:16134170|PMID:16199547|PMID:16231399|PMID:17274881|PMID:17407983|PMID:17576681|PMID:18429047|PMID:18442489|PMID:18974016|PMID:19157941|PMID:19695181|PMID:19806568|PMID:20026029|PMID:20095979|PMID:21615476|PMID:21874615|PMID:21894551|PMID:22027809|PMID:24033266|PMID:24085707|PMID:24099927|PMID:24215330|PMID:24239178|PMID:25087612|PMID:25525159|PMID:25690727|PMID:25741868|PMID:26938784|PMID:27114915|PMID:2760430|PMID:27604308|PMID:28492532|PMID:29701239|PMID:32219826|PMID:32358368|PMID:32727382|PMID:32841162|PMID:33123633|PMID:33870574|PMID:36890565|PMID:38146699|PMID:38380423|PMID:38550975|PMID:38582244|PMID:39194177|PMID:39634276|PMID:7842009|PMID:8541348|PMID:8817339|PMID:9396568|PMID:9536098|PMID:9630604|PMID:9870216
8748237	Hlcs	holocarboxylase synthetase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8748262	Dipk1c	divergent protein kinase domain 1C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748262	Dipk1c	divergent protein kinase domain 1C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8748271	Mrps14	mitochondrial ribosomal protein S14	gene	DOID:0111466	combined oxidative phosphorylation deficiency 38		ISO	RGD:1319772	D	RGD:7240710	20190911	OMIM			
8748271	Mrps14	mitochondrial ribosomal protein S14	gene	DOID:0111466	combined oxidative phosphorylation deficiency 38		ISO	RGD:1319772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 38 | ClinVar Annotator: match by term: MRPS14-related condition	PMID:25741868|PMID:28492532
8748271	Mrps14	mitochondrial ribosomal protein S14	gene	DOID:1115	sarcoma		ISO	RGD:1319772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8748271	Mrps14	mitochondrial ribosomal protein S14	gene	DOID:1324	lung cancer		ISO	RGD:1319772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8748271	Mrps14	mitochondrial ribosomal protein S14	gene	DOID:3275	thymoma		ISO	RGD:1319772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
8748271	Mrps14	mitochondrial ribosomal protein S14	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1319772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Speech delay	PMID:25741868|PMID:30358850
8748300	Il12rb2	interleukin 12 receptor subunit beta 2	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1346577	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	
8748300	Il12rb2	interleukin 12 receptor subunit beta 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748300	Il12rb2	interleukin 12 receptor subunit beta 2	gene	DOID:0070360	primary biliary cholangitis 3		ISO	RGD:1346577	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: IL12RB2-related condition	PMID:25741868|PMID:28492532
8748300	Il12rb2	interleukin 12 receptor subunit beta 2	gene	DOID:1115	sarcoma		ISO	RGD:1346577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8748300	Il12rb2	interleukin 12 receptor subunit beta 2	gene	DOID:11162	respiratory failure		ISO	RGD:1346577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868|PMID:28492532
8748300	Il12rb2	interleukin 12 receptor subunit beta 2	gene	DOID:11830	myopia		ISO	RGD:1346577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
8748300	Il12rb2	interleukin 12 receptor subunit beta 2	gene	DOID:1324	lung cancer		ISO	RGD:1346577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8748300	Il12rb2	interleukin 12 receptor subunit beta 2	gene	DOID:1909	melanoma		ISO	RGD:1346577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8748300	Il12rb2	interleukin 12 receptor subunit beta 2	gene	DOID:2841	asthma		ISO	RGD:1346577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
8748300	Il12rb2	interleukin 12 receptor subunit beta 2	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1346577	D	RGD:9068941	20260702	RGD		DNA:SNP:intron:multiple	PMID:35923356|REF_RGD_ID:736706836
8748300	Il12rb2	interleukin 12 receptor subunit beta 2	gene	DOID:3275	thymoma		ISO	RGD:1346577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8748300	Il12rb2	interleukin 12 receptor subunit beta 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8748300	Il12rb2	interleukin 12 receptor subunit beta 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1346577	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8748300	Il12rb2	interleukin 12 receptor subunit beta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748300	Il12rb2	interleukin 12 receptor subunit beta 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1346577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8748300	Il12rb2	interleukin 12 receptor subunit beta 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8748300	Il12rb2	interleukin 12 receptor subunit beta 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:1346577	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23159883
8748300	Il12rb2	interleukin 12 receptor subunit beta 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8748300	Il12rb2	interleukin 12 receptor subunit beta 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
8748300	Il12rb2	interleukin 12 receptor subunit beta 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8748320	Ckb	creatine kinase B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:730974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8748320	Ckb	creatine kinase B	gene	DOID:0051064	left ventricular failure		ISO	RGD:730974	D	RGD:9068941	20200609	RGD			PMID:12039490|REF_RGD_ID:1598441
8748320	Ckb	creatine kinase B	gene	DOID:10534	stomach cancer		ISO	RGD:730974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8748320	Ckb	creatine kinase B	gene	DOID:1909	melanoma		ISO	RGD:730974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8748320	Ckb	creatine kinase B	gene	DOID:299	adenocarcinoma		ISO	RGD:730974	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
8748320	Ckb	creatine kinase B	gene	DOID:4362	cervical cancer		ISO	RGD:730974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8748320	Ckb	creatine kinase B	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:730974	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2828370
8748320	Ckb	creatine kinase B	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:730974	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
8748320	Ckb	creatine kinase B	gene	DOID:5844	myocardial infarction		ISO	RGD:730974	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12359538
8748320	Ckb	creatine kinase B	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:730974	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
8748320	Ckb	creatine kinase B	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:730974	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15966572
8748320	Ckb	creatine kinase B	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:730974	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11406506
8748320	Ckb	creatine kinase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8748320	Ckb	creatine kinase B	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:730974	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8748329	Pon2	paraoxonase 2	gene	DOID:0051061	stroke		ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		associated with type 2 diabetes mellitus;DNA:missense mutation:cds:p.S311C (human)	PMID:12778447|REF_RGD_ID:2313491
8748329	Pon2	paraoxonase 2	gene	DOID:0051061	stroke		ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		large vessel disease (LVD) stroke;DNA:missense mutation:cds:p.C311S (human)	PMID:17406108|REF_RGD_ID:1642614
8748329	Pon2	paraoxonase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320575	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8748329	Pon2	paraoxonase 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:1309954	D	RGD:9068941	20200609	RGD			PMID:22536512|REF_RGD_ID:8661257
8748329	Pon2	paraoxonase 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		DNA:SNPs:multiple	PMID:16319130|REF_RGD_ID:5509926
8748329	Pon2	paraoxonase 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C311S (human)	PMID:11803456|REF_RGD_ID:1580219
8748329	Pon2	paraoxonase 2	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1320575	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19152805
8748329	Pon2	paraoxonase 2	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1320575	D	RGD:9068941	20200806	RGD		DNA:missense mutation:cds:p.S311C (human)	PMID:16776623|REF_RGD_ID:1642625
8748329	Pon2	paraoxonase 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs11981433, association with LD block containing both PON3 and PON2	PMID:16822964|REF_RGD_ID:5509925
8748329	Pon2	paraoxonase 2	gene	DOID:3393	coronary artery disease	severity	ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C311S (human)	PMID:12454802|REF_RGD_ID:1580217
8748329	Pon2	paraoxonase 2	gene	DOID:3526	cerebral infarction	susceptibility	ISO	RGD:1320575	D	RGD:9068941	20230831	RGD		DNA:SNPs,haplotypes: (rs11545941, rs6954345) (human)	PMID:20458436|REF_RGD_ID:401794454
8748329	Pon2	paraoxonase 2	gene	DOID:8725	vascular dementia		ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C311S (human)	PMID:11803456|REF_RGD_ID:1580219
8748329	Pon2	paraoxonase 2	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C311S (human)	PMID:9443862|REF_RGD_ID:1580216
8748329	Pon2	paraoxonase 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		associated with type 1 diabetes mellitus;DNA:missense mutation:cds:p.C311S (human)	PMID:11918623|REF_RGD_ID:1580218
8748329	Pon2	paraoxonase 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		associated with type 2 diabetes mellitus;DNA:polymorphisms:multiple	PMID:11206400|REF_RGD_ID:2313492
8748329	Pon2	paraoxonase 2	gene	DOID:9002910	Hearing Loss, Noise-Induced	susceptibility	ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:23327886|REF_RGD_ID:8661240
8748329	Pon2	paraoxonase 2	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:1320575	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16030523
8748329	Pon2	paraoxonase 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.S311C (human)	PMID:18776646|REF_RGD_ID:2313490
8748329	Pon2	paraoxonase 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		associated with Diabetic Retinopathy;DNA:missense mutation:cds:p.C310S (human)	PMID:10677395|REF_RGD_ID:8547560
8748329	Pon2	paraoxonase 2	gene	DOID:9970	obesity		ISO	RGD:1309954	D	RGD:9068941	20200609	RGD		protein:increased expression:white adipose tissue	PMID:21365757|REF_RGD_ID:8661255
8748342	Hephl1	hephaestin like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748342	Hephl1	hephaestin like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8748342	Hephl1	hephaestin like 1	gene	DOID:1115	sarcoma		ISO	RGD:1345614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8748342	Hephl1	hephaestin like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8748342	Hephl1	hephaestin like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345614	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8748342	Hephl1	hephaestin like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748342	Hephl1	hephaestin like 1	gene	DOID:9001311	Lichen Planus Follicularis		ISO	RGD:1345614	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Lichen planopilaris	
8748342	Hephl1	hephaestin like 1	gene	DOID:9001704	Pili Torti, Developmental Delay, Neurological Abnormalities		ISO	RGD:1345614	D	RGD:7240710	20201202	OMIM			
8748342	Hephl1	hephaestin like 1	gene	DOID:9001704	Pili Torti, Developmental Delay, Neurological Abnormalities		ISO	RGD:1345614	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEPHL1-related condition | ClinVar Annotator: match by term: Pili torti-developmental delay-neurological abnormalities syndrome	PMID:25741868|PMID:28492532
8748342	Hephl1	hephaestin like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8748366	Cwc25	CWC25 spliceosome associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748366	Cwc25	CWC25 spliceosome associated protein	gene	DOID:0060058	lymphoma		ISO	RGD:1603211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8748366	Cwc25	CWC25 spliceosome associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1603211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8748366	Cwc25	CWC25 spliceosome associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1603211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8748366	Cwc25	CWC25 spliceosome associated protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8748366	Cwc25	CWC25 spliceosome associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1603211	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8748366	Cwc25	CWC25 spliceosome associated protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1603211	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8748366	Cwc25	CWC25 spliceosome associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748366	Cwc25	CWC25 spliceosome associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8748384	Scai	suppressor of cancer cell invasion	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8748384	Scai	suppressor of cancer cell invasion	gene	DOID:4362	cervical cancer		ISO	RGD:1316447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8748384	Scai	suppressor of cancer cell invasion	gene	DOID:5041	esophageal cancer		ISO	RGD:1316447	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8748384	Scai	suppressor of cancer cell invasion	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748384	Scai	suppressor of cancer cell invasion	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8748420	Eif4a3	eukaryotic translation initiation factor 4A3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8748420	Eif4a3	eukaryotic translation initiation factor 4A3	gene	DOID:1059	intellectual disability		ISO	RGD:1352000	D	RGD:9068941	20200609	RGD		DNA:duplications:cds: (human)	PMID:23376982|REF_RGD_ID:10045550
8748420	Eif4a3	eukaryotic translation initiation factor 4A3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8748420	Eif4a3	eukaryotic translation initiation factor 4A3	gene	DOID:1324	lung cancer		ISO	RGD:1352000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8748420	Eif4a3	eukaryotic translation initiation factor 4A3	gene	DOID:1793	pancreatic cancer		ISO	RGD:1352000	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:15796914|REF_RGD_ID:10045549
8748420	Eif4a3	eukaryotic translation initiation factor 4A3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8748420	Eif4a3	eukaryotic translation initiation factor 4A3	gene	DOID:5041	esophageal cancer		ISO	RGD:1352000	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8748420	Eif4a3	eukaryotic translation initiation factor 4A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748420	Eif4a3	eukaryotic translation initiation factor 4A3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8748420	Eif4a3	eukaryotic translation initiation factor 4A3	gene	DOID:630	genetic disease		ISO	RGD:1352000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8748420	Eif4a3	eukaryotic translation initiation factor 4A3	gene	DOID:9004119	Richieri Costa-Pereira Syndrome		ISO	RGD:1352000	D	RGD:7240710	20180130	OMIM			
8748420	Eif4a3	eukaryotic translation initiation factor 4A3	gene	DOID:9004119	Richieri Costa-Pereira Syndrome		ISO	RGD:1352000	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EIF4A3-related condition | ClinVar Annotator: match by term: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES	
8748420	Eif4a3	eukaryotic translation initiation factor 4A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8748452	Slc25a21	solute carrier family 25 member 21	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748452	Slc25a21	solute carrier family 25 member 21	gene	DOID:0070449	mitochondrial DNA depletion syndrome 18		ISO	RGD:1350119	D	RGD:7240710	20200408	OMIM			
8748452	Slc25a21	solute carrier family 25 member 21	gene	DOID:0070449	mitochondrial DNA depletion syndrome 18		ISO	RGD:1350119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 18 | ClinVar Annotator: match by term: SLC25A21-related condition	PMID:25741868|PMID:28492532
8748452	Slc25a21	solute carrier family 25 member 21	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8748452	Slc25a21	solute carrier family 25 member 21	gene	DOID:1324	lung cancer		ISO	RGD:1350119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8748452	Slc25a21	solute carrier family 25 member 21	gene	DOID:1909	melanoma		ISO	RGD:1350119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8748452	Slc25a21	solute carrier family 25 member 21	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8748452	Slc25a21	solute carrier family 25 member 21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8748469	Ccdc141	coiled-coil domain containing 141	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748469	Ccdc141	coiled-coil domain containing 141	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1606113	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic Hypogonadism	
8748469	Ccdc141	coiled-coil domain containing 141	gene	DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia		ISO	RGD:1606113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia	PMID:25741868|PMID:28492532
8748469	Ccdc141	coiled-coil domain containing 141	gene	DOID:1324	lung cancer		ISO	RGD:1606113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8748469	Ccdc141	coiled-coil domain containing 141	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:1606113	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic Hypogonadism	
8748469	Ccdc141	coiled-coil domain containing 141	gene	DOID:1923	disorder of sexual development		ISO	RGD:1606113	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Disorder of sexual differentiation	
8748469	Ccdc141	coiled-coil domain containing 141	gene	DOID:3275	thymoma		ISO	RGD:1606113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8748469	Ccdc141	coiled-coil domain containing 141	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8748469	Ccdc141	coiled-coil domain containing 141	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8748469	Ccdc141	coiled-coil domain containing 141	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8748469	Ccdc141	coiled-coil domain containing 141	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8748498	Susd3	sushi domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322117	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748498	Susd3	sushi domain containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8748498	Susd3	sushi domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748498	Susd3	sushi domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8748513	Chmp4c	charged multivesicular body protein 4C	gene	DOID:10534	stomach cancer		ISO	RGD:1606751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8748513	Chmp4c	charged multivesicular body protein 4C	gene	DOID:1324	lung cancer		ISO	RGD:1606751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8748513	Chmp4c	charged multivesicular body protein 4C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8748513	Chmp4c	charged multivesicular body protein 4C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748513	Chmp4c	charged multivesicular body protein 4C	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1606751	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23535730|PMID:31043753
8748540	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8748540	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748540	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:10534	stomach cancer		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8748540	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:1115	sarcoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8748540	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:1324	lung cancer		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8748540	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:1909	melanoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8748540	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8748540	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:3275	thymoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8748540	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8748540	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:4362	cervical cancer		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8748540	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8748540	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1349038	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8748540	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8748540	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748540	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8748540	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8748540	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8748540	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8748540	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8748612	Cep170	centrosomal protein 170	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748612	Cep170	centrosomal protein 170	gene	DOID:1115	sarcoma		ISO	RGD:1605104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8748612	Cep170	centrosomal protein 170	gene	DOID:1909	melanoma		ISO	RGD:1605104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8748612	Cep170	centrosomal protein 170	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8748612	Cep170	centrosomal protein 170	gene	DOID:4362	cervical cancer		ISO	RGD:1605104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8748612	Cep170	centrosomal protein 170	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8748612	Cep170	centrosomal protein 170	gene	DOID:5041	esophageal cancer		ISO	RGD:1605104	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8748612	Cep170	centrosomal protein 170	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8748612	Cep170	centrosomal protein 170	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748612	Cep170	centrosomal protein 170	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8748612	Cep170	centrosomal protein 170	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8748612	Cep170	centrosomal protein 170	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8748612	Cep170	centrosomal protein 170	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8748612	Cep170	centrosomal protein 170	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8748668	Nsmce2	NSE2 SUMO ligase component of SMC5/6 complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748668	Nsmce2	NSE2 SUMO ligase component of SMC5/6 complex	gene	DOID:0070008	Seckel syndrome 10		ISO	RGD:1606915	D	RGD:7240710	20190315	OMIM			
8748668	Nsmce2	NSE2 SUMO ligase component of SMC5/6 complex	gene	DOID:0070008	Seckel syndrome 10		ISO	RGD:1606915	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: NSMCE2-related condition | ClinVar Annotator: match by term: SECKEL SYNDROME 10 | ClinVar Annotator: match by term: Seckel syndrome 10	PMID:25105364|PMID:25741868|PMID:26443207|PMID:28492532
8748668	Nsmce2	NSE2 SUMO ligase component of SMC5/6 complex	gene	DOID:2394	ovarian cancer		ISO	RGD:1606915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8748668	Nsmce2	NSE2 SUMO ligase component of SMC5/6 complex	gene	DOID:2717	Bloom syndrome		ISO	RGD:1331905	D	RGD:9068941	20220825	MouseDO		OMIM:210900	
8748668	Nsmce2	NSE2 SUMO ligase component of SMC5/6 complex	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8748668	Nsmce2	NSE2 SUMO ligase component of SMC5/6 complex	gene	DOID:5041	esophageal cancer		ISO	RGD:1606915	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8748668	Nsmce2	NSE2 SUMO ligase component of SMC5/6 complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8748668	Nsmce2	NSE2 SUMO ligase component of SMC5/6 complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8748668	Nsmce2	NSE2 SUMO ligase component of SMC5/6 complex	gene	DOID:9007661	Dwarfism		ISO	RGD:1606915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: short stature	
8748668	Nsmce2	NSE2 SUMO ligase component of SMC5/6 complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8748680	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1605000	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868
8748680	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:0080390	nephrotic syndrome type 1		ISO	RGD:1605000	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: Idiopathic nephrotic syndrome	PMID:11805166|PMID:12464671|PMID:12707396|PMID:14978175|PMID:15253708|PMID:15769810|PMID:15817495|PMID:16354237|PMID:16898497|PMID:17699384|PMID:18823551|PMID:19145239|PMID:19876656|PMID:20507940|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:23349334|PMID:23515051|PMID:23645318|PMID:24227627|PMID:24509478|PMID:25349199|PMID:25720465|PMID:25741868|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:28492532|PMID:28658201|PMID:28780565|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29982877|PMID:30013592|PMID:32604935
8748680	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1605000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8748680	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:12336	male infertility		ISO	RGD:1605000	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Male infertility	
8748680	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1605000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8748680	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1605000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8748680	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1605000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8748680	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605000	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8748680	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748680	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8748680	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8748680	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8748736	Lmx1a	LIM homeobox transcription factor 1 alpha	gene	DOID:0110591	autosomal dominant nonsyndromic deafness 7		ISO	RGD:1312426	D	RGD:7240710	20200226	OMIM			
8748736	Lmx1a	LIM homeobox transcription factor 1 alpha	gene	DOID:0110591	autosomal dominant nonsyndromic deafness 7		ISO	RGD:1312426	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 7 | ClinVar Annotator: match by term: Deafness, autosomal dominant 7 | ClinVar Annotator: match by term: LMX1A-related condition	PMID:25741868
8748736	Lmx1a	LIM homeobox transcription factor 1 alpha	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1312426	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
8748736	Lmx1a	LIM homeobox transcription factor 1 alpha	gene	DOID:5419	schizophrenia		ISO	RGD:1312426	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8748736	Lmx1a	LIM homeobox transcription factor 1 alpha	gene	DOID:9004538	Hearing Loss		ISO	RGD:1312426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:32840933|PMID:35711095|PMID:36140227
8748754	Fam217b	family with sequence similarity 217 member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748754	Fam217b	family with sequence similarity 217 member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748761	Patz1	POZ/BTB and AT hook containing zinc finger 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748761	Patz1	POZ/BTB and AT hook containing zinc finger 1	gene	DOID:1324	lung cancer		ISO	RGD:1318048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8748761	Patz1	POZ/BTB and AT hook containing zinc finger 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8748761	Patz1	POZ/BTB and AT hook containing zinc finger 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748761	Patz1	POZ/BTB and AT hook containing zinc finger 1	gene	DOID:9005834	Ependymomas		ISO	RGD:1318048	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
8748761	Patz1	POZ/BTB and AT hook containing zinc finger 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8748780	Ctps2	CTP synthase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8748780	Ctps2	CTP synthase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748780	Ctps2	CTP synthase 2	gene	DOID:1324	lung cancer		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8748780	Ctps2	CTP synthase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8748780	Ctps2	CTP synthase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8748780	Ctps2	CTP synthase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748780	Ctps2	CTP synthase 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8748780	Ctps2	CTP synthase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8748780	Ctps2	CTP synthase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8748780	Ctps2	CTP synthase 2	gene	DOID:9256	colorectal cancer	resistance	ISO	RGD:1602693	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor (human)	PMID:21378502|REF_RGD_ID:5132879
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:0050860	colorectal adenoma		ISO	RGD:732271	D	RGD:9068941	20200609	RGD			PMID:21122381|PMID:23082052|REF_RGD_ID:13217408|REF_RGD_ID:13217413
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:0050861	colorectal adenocarcinoma		ISO	RGD:732271	D	RGD:9068941	20200609	RGD			PMID:21122381|REF_RGD_ID:13217408
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:0051061	stroke		ISO	RGD:621506	D	RGD:9068941	20200609	RGD			PMID:10773432|REF_RGD_ID:1582317
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:732271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21317887
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:621506	D	RGD:9068941	20210827	RGD		protein:increased phosphorylation:adipose tissue, liver (rat)	PMID:27909723|REF_RGD_ID:150340686
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:621506	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;	PMID:24404139|REF_RGD_ID:13506784
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:621506	D	RGD:9068941	20240203	RGD			PMID:20581854|REF_RGD_ID:401965387
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:10534	stomach cancer		ISO	RGD:732271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:10652	Alzheimer's disease	disease_progression	ISO	RGD:732271	D	RGD:9068941	20200609	RGD		protein:increased expression:brain,CA1 field of hippocampus:	PMID:11208906|REF_RGD_ID:10412676
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:10763	hypertension		ISO	RGD:621506	D	RGD:9068941	20200609	RGD			PMID:15302844|REF_RGD_ID:1582315
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:10873	Kuhnt-Junius degeneration		ISO	RGD:732272	D	RGD:9068941	20200609	RGD			PMID:23341606|REF_RGD_ID:10412675
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:1115	sarcoma		ISO	RGD:732271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:11168	anogenital venereal wart	treatment	ISO	RGD:732271	D	RGD:9068941	20210827	RGD		mRNA:increased expression:zone of skin (human)	PMID:25774455|REF_RGD_ID:36174028
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:12098	trigeminal neuralgia		ISO	RGD:732271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:12205	dengue disease		ISO	RGD:732272	D	RGD:9068941	20210827	RGD		protein:increased phosphorylation:liver (mouse)	PMID:28188818|REF_RGD_ID:150340680
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:732271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28789951
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:1508	candidiasis	ameliorates	ISO	RGD:732272	D	RGD:9068941	20210827	RGD			PMID:28112734|REF_RGD_ID:150340684
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:1574	alcohol use disorder		ISO	RGD:621506	D	RGD:9068941	20240125	RGD			PMID:31262967|REF_RGD_ID:401959334
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:1984	rectal benign neoplasm		ISO	RGD:732271	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs10508901 (human)	PMID:22199996|REF_RGD_ID:13217410
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:1984	rectal benign neoplasm		ISO	RGD:732271	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs10857561 (human)	PMID:23027623|REF_RGD_ID:13217411
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:2058	chronic mucocutaneous candidiasis		ISO	RGD:732271	D	RGD:9068941	20210827	RGD		associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A (human)	PMID:31784499|REF_RGD_ID:150340677
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:2237	hepatitis		ISO	RGD:732272	D	RGD:9068941	20220811	RGD			PMID:25173965|REF_RGD_ID:153305943
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:2316	brain ischemia		ISO	RGD:621506	D	RGD:9068941	20200609	RGD			PMID:15797868|REF_RGD_ID:1582325
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:289	endometriosis		ISO	RGD:732271	D	RGD:9068941	20210827	RGD		mRNA:increased expression:peritoneum (human)	PMID:25207642|REF_RGD_ID:150340690
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:732272	D	RGD:9068941	20221117	RGD		mRNA, protein:increased expression:lung (mouse)	PMID:34331613|REF_RGD_ID:155663371
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:732271	D	RGD:9068941	20200609	RGD			PMID:20699612|REF_RGD_ID:5490968
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:3310	atopic dermatitis		ISO	RGD:732271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24046278
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:3498	pancreatic ductal adenocarcinoma	disease_progression	ISO	RGD:732272	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:pancreas (mouse)	PMID:23237571|REF_RGD_ID:14348975
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:3498	pancreatic ductal adenocarcinoma	severity	ISO	RGD:732272	D	RGD:9068941	20200609	RGD			PMID:28837246|REF_RGD_ID:14348974
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:3944	Arenaviridae infectious disease		ISO	RGD:732272	D	RGD:9068941	20210827	RGD			PMID:11927625|REF_RGD_ID:150340679
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:4074	pancreatic adenocarcinoma	exacerbates	ISO	RGD:732271	D	RGD:9068941	20210827	RGD		protein:increased phosphorylation:pancreas (human)	PMID:24395444|REF_RGD_ID:150340683
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:621506	D	RGD:9068941	20200609	RGD			PMID:21894146|REF_RGD_ID:6218988
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:5041	esophageal cancer		ISO	RGD:732271	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:5844	myocardial infarction	ameliorates	ISO	RGD:621506	D	RGD:9068941	20230427	RGD			PMID:28622474|REF_RGD_ID:329333030
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:732271	D	RGD:9068941	20210827	RGD		protein:decreased phosphorylation:liver (human)	PMID:33875785|REF_RGD_ID:150340688
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:732271	D	RGD:9068941	20200609	RGD			PMID:16311603|REF_RGD_ID:1582313
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:732272	D	RGD:9068941	20200609	RGD			PMID:16311603|REF_RGD_ID:1582313
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:874	bacterial pneumonia	severity	ISO	RGD:732272	D	RGD:9068941	20210827	RGD		associated with Escherichia Coli Infections	PMID:22514650|REF_RGD_ID:150340681
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:732271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18593901
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9000371	influenza A	ameliorates	ISO	RGD:732272	D	RGD:9068941	20210827	RGD			PMID:22514650|REF_RGD_ID:150340681
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9000955	Acute Otitis Media		ISO	RGD:732272	D	RGD:9068941	20210827	RGD		mRNA:decreased expression:middle ear (mouse)	PMID:21307808|REF_RGD_ID:150340689
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9002137	Infectious Ectromelia	exacerbates	ISO	RGD:732272	D	RGD:9068941	20210827	RGD			PMID:24673683|REF_RGD_ID:150340678
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:621506	D	RGD:9068941	20200609	RGD		protein:increased activity:liver:	PMID:11679968|REF_RGD_ID:10412680
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9002211	Hyperalgesia		ISO	RGD:732271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9002245	Intestinal Neoplasms		ISO	RGD:732272	D	RGD:9068941	20200609	RGD			PMID:17591974|REF_RGD_ID:13217412
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9002245	Intestinal Neoplasms	treatment	ISO	RGD:732272	D	RGD:9068941	20200609	RGD			PMID:23327547|REF_RGD_ID:13217409
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9002909	Oxygen-Induced Retinopathy		ISO	RGD:732272	D	RGD:9068941	20200609	RGD			PMID:19433784|REF_RGD_ID:10412674
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:732271	D	RGD:9068941	20200609	RGD			PMID:17591974|REF_RGD_ID:13217412
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9002928	Colonic Neoplasms	treatment	ISO	RGD:732271	D	RGD:9068941	20200609	RGD			PMID:18460448|REF_RGD_ID:13217414
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9003936	Cardiomegaly		ISO	RGD:732272	D	RGD:9068941	20200609	RGD			PMID:12668503|REF_RGD_ID:1582316
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:621506	D	RGD:9068941	20200609	RGD			PMID:16699462|REF_RGD_ID:1582310
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:732271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20302854
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:621506	D	RGD:9068941	20210827	RGD			PMID:14662889|REF_RGD_ID:126928138
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:732271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17185352
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9005666	Contrast-Induced Nephropathy	treatment	ISO	RGD:621506	D	RGD:9068941	20200609	RGD			PMID:27781957|REF_RGD_ID:13782262
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9005930	Endotoxemia		ISO	RGD:621506	D	RGD:9068941	20210827	RGD		protein:increased phophorylation:hippocampus (rat)	PMID:12207162|REF_RGD_ID:150340687
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9006205	Animal Disease Models		ISO	RGD:732271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9007417	Pseudomonas Infections	ameliorates	ISO	RGD:732272	D	RGD:9068941	20210827	RGD		associated with Pneumonia, Ventilator-Associated	PMID:27506464|REF_RGD_ID:150340682
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:732271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21726611
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:621506	D	RGD:9068941	20200609	RGD			PMID:12883833|PMID:15309413|REF_RGD_ID:1582311|REF_RGD_ID:1582312
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:621506	D	RGD:9068941	20220923	RGD			PMID:31583047|REF_RGD_ID:155230831
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:732271	D	RGD:9068941	20210827	RGD		protein:increased expression:pyloric antrum (human)	PMID:17643099|REF_RGD_ID:150340691
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9009106	Acute Heart Injury		ISO	RGD:621506	D	RGD:9068941	20260716	RGD		protein:increased expression:cardiomyocyte	PMID:14512277|REF_RGD_ID:1549442
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:621506	D	RGD:9068941	20200609	RGD		protein:hyperphosphorylation:pancreatic islet:	PMID:21911753|REF_RGD_ID:13506785
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732271	D	RGD:9068941	20200609	RGD		protein:hyperphosphorylation:pancreatic islet:	PMID:21911753|REF_RGD_ID:13506785
8748803	Mapk8	mitogen-activated protein kinase 8	gene	DOID:9452	steatotic liver disease		ISO	RGD:732272	D	RGD:9068941	20200609	RGD			PMID:21540183|REF_RGD_ID:9585751
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:0050567	orofacial cleft		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:25741868
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:0050902	medulloblastoma		ISO	RGD:1312590	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312590	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:0060058	lymphoma		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:0070062	Arboleda-Tham syndrome		ISO	RGD:1312590	D	RGD:7240710	20180130	OMIM			
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:0070062	Arboleda-Tham syndrome		ISO	RGD:1312590	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ARBOLEDA-THAM SYNDROME | ClinVar Annotator: match by term: Arboleda-Tham syndrome | ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome | ClinVar Annotator: match by term: KAT6A-related condition | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 32	PMID:17374998|PMID:23431171|PMID:25728775|PMID:25728777|PMID:25741868|PMID:27133397|PMID:28492532|PMID:29758562|PMID:30245513|PMID:31292255|PMID:32041641|PMID:32477112|PMID:34748993|PMID:34930245|PMID:35892268|PMID:35904121|PMID:38177409
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1312590	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:10534	stomach cancer		ISO	RGD:1312590	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:1059	intellectual disability		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:10907	microcephaly		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25728777|PMID:25741868|PMID:28492532
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:1115	sarcoma		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1312591	D	RGD:9068941	20200609	RGD			PMID:22921202|REF_RGD_ID:9590333
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1312591	D	RGD:9068941	20220825	MouseDO		OMIM:188400	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:11383	cryptorchidism		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:11782	astigmatism		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:11830	myopia		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:12849	autistic disorder		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:1324	lung cancer		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:1459	hypothyroidism		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:1682	congenital heart disease		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:1826	epilepsy		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:2030	anxiety disorder		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:2340	craniosynostosis		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:25741868|PMID:30245513|PMID:31292255
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:2725	capillary hemangioma		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Capillary hemangioma	PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:3070	high grade glioma		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:3275	thymoma		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:4362	cervical cancer		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:5041	esophageal cancer		ISO	RGD:1312590	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:540	strabismus		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:630	genetic disease		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25728775|PMID:25728777|PMID:25741868|PMID:27133397|PMID:28135719|PMID:28492532|PMID:28518168|PMID:30245513|PMID:32461654|PMID:33004838|PMID:35892268|PMID:36660029
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:630	genetic disease		ISO	RGD:1312590	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25728777|PMID:25741868|PMID:28135719|PMID:28492532|PMID:28518168|PMID:30245513|PMID:32461654|PMID:35892268|PMID:36660029
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:8927	learning disability		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Learning disability	PMID:25741868
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1304892	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:17083329|REF_RGD_ID:2312274
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus flammeus	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1312590	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9002969	Nevus		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus	PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9003133	Hypertelorism		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9003816	Macrocephaly		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9003879	Vein of Galen Aneurysm		ISO	RGD:1312590	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Galen vein aneurysm	PMID:30578106
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312590	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9005077	Joint Instability		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: speech delay	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9005616	Micrognathism		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1312590	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9007661	Dwarfism		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312590	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17374998|PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1312590	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868|PMID:30245513|PMID:31292255
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain insensitivity	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9008617	Lethargy		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:25741868
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9008939	Breast Neoplasms	severity	ISO	RGD:1312590	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast (human)	PMID:25220592|REF_RGD_ID:9590335
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:28492532
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8748846	Kat6a	lysine acetyltransferase 6A	gene	DOID:9834	hyperopia		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
8748869	Mcph1	microcephalin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8748869	Mcph1	microcephalin 1	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1349111	D	RGD:9068941	20200609	RGD		mRNA:protein:decreased expression:oral cavity, tissue (human)	PMID:23472065|REF_RGD_ID:9589036
8748869	Mcph1	microcephalin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748869	Mcph1	microcephalin 1	gene	DOID:0070285	primary autosomal recessive microcephaly 1		ISO	RGD:1349111	D	RGD:7240710	20180130	OMIM			
8748869	Mcph1	microcephalin 1	gene	DOID:0070285	primary autosomal recessive microcephaly 1		ISO	RGD:1349111	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MCPH1-related condition | ClinVar Annotator: match by term: MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive | ClinVar Annotator: match by term: Premature chromosome condensation with microcephaly and mental retardation | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 1	PMID:12046007|PMID:15199523|PMID:16199547|PMID:16211557|PMID:17576681|PMID:18414213|PMID:20101680|PMID:20301772|PMID:20978018|PMID:22855649|PMID:23281133|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532|PMID:31130284|PMID:31847883|PMID:33094427|PMID:34402213|PMID:9536098
8748869	Mcph1	microcephalin 1	gene	DOID:0070296	autosomal recessive primary microcephaly		ISO	RGD:1349111	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive primary microcephaly | ClinVar Annotator: match by term: Primary Autosomal Recessive Microcephaly | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly	PMID:16199547|PMID:18414213|PMID:20978018|PMID:22855649|PMID:25741868|PMID:28492532|PMID:31130284|PMID:33094427
8748869	Mcph1	microcephalin 1	gene	DOID:0070297	primary microcephaly		ISO	RGD:1349111	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	
8748869	Mcph1	microcephalin 1	gene	DOID:1059	intellectual disability		ISO	RGD:1349111	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:20949544|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34670123
8748869	Mcph1	microcephalin 1	gene	DOID:1059	intellectual disability		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8748869	Mcph1	microcephalin 1	gene	DOID:10907	microcephaly		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:20978018|PMID:22855649|PMID:25741868|PMID:28492532|PMID:31130284|PMID:34402213
8748869	Mcph1	microcephalin 1	gene	DOID:10907	microcephaly	no_association	ISO	RGD:1349111	D	RGD:9068941	20200609	RGD		DNA:SNP: :c.940G>C (g.37995G>C) (human)	PMID:19267414|REF_RGD_ID:13204744
8748869	Mcph1	microcephalin 1	gene	DOID:1324	lung cancer		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8748869	Mcph1	microcephalin 1	gene	DOID:1380	endometrial cancer		ISO	RGD:1349111	D	RGD:9068941	20200609	RGD		DNA:deletions:exons:multiple (human)	PMID:20638839|REF_RGD_ID:9589018
8748869	Mcph1	microcephalin 1	gene	DOID:1612	breast cancer	severity	ISO	RGD:1349111	D	RGD:9068941	20200609	RGD		DNA:silent mutation, missense mutation:cds:p.S742, p.A761V (rs2912010, rs1057090) (human)	PMID:23296058|REF_RGD_ID:9589038
8748869	Mcph1	microcephalin 1	gene	DOID:1826	epilepsy		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
8748869	Mcph1	microcephalin 1	gene	DOID:1909	melanoma		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8748869	Mcph1	microcephalin 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8748869	Mcph1	microcephalin 1	gene	DOID:2468	psychotic disorder		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:28492532
8748869	Mcph1	microcephalin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
8748869	Mcph1	microcephalin 1	gene	DOID:4451	renal carcinoma		ISO	RGD:1349111	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney (human)	PMID:25197360|REF_RGD_ID:9589037
8748869	Mcph1	microcephalin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8748869	Mcph1	microcephalin 1	gene	DOID:480	movement disease		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
8748869	Mcph1	microcephalin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8748869	Mcph1	microcephalin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748869	Mcph1	microcephalin 1	gene	DOID:630	genetic disease		ISO	RGD:1349111	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:25741868|PMID:28492532
8748869	Mcph1	microcephalin 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
8748869	Mcph1	microcephalin 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1349111	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:ovary (human)	PMID:16872911|REF_RGD_ID:9589035
8748869	Mcph1	microcephalin 1	gene	DOID:9002762	Ovarian Neoplasms	severity	ISO	RGD:1349111	D	RGD:9068941	20200609	RGD		protein:decreased expression:ovary, nucleus	PMID:24830737|REF_RGD_ID:13204746
8748869	Mcph1	microcephalin 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
8748869	Mcph1	microcephalin 1	gene	DOID:9003126	Hallucinations		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:28492532
8748869	Mcph1	microcephalin 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
8748869	Mcph1	microcephalin 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:28492532
8748869	Mcph1	microcephalin 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1349111	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:20978018|PMID:25741868|PMID:28492532
8748869	Mcph1	microcephalin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8748869	Mcph1	microcephalin 1	gene	DOID:9007479	Habitual Abortions		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent spontaneous abortion	PMID:20978018|PMID:22855649|PMID:25741868|PMID:31130284
8748869	Mcph1	microcephalin 1	gene	DOID:9008939	Breast Neoplasms	severity	ISO	RGD:1349111	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast (human)	PMID:20632086|REF_RGD_ID:9589027
8748869	Mcph1	microcephalin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8748895	Hs3st1	heparan sulfate-glucosamine 3-sulfotransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748895	Hs3st1	heparan sulfate-glucosamine 3-sulfotransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8748904	Fosl2	FOS like 2, AP-1 transcription factor subunit	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:10598	D	RGD:9068941	20240425	MouseDO		OMIM:178500	
8748904	Fosl2	FOS like 2, AP-1 transcription factor subunit	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:733116	D	RGD:9068941	20220825	RGD		mRNA,protein:increased expression:tongue (human)	PMID:26581505|REF_RGD_ID:11535375
8748904	Fosl2	FOS like 2, AP-1 transcription factor subunit	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:733116	D	RGD:9068941	20220826	RGD		mRNA, protein:increased expression:mouth (human)	PMID:34111459|REF_RGD_ID:153344573
8748904	Fosl2	FOS like 2, AP-1 transcription factor subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748904	Fosl2	FOS like 2, AP-1 transcription factor subunit	gene	DOID:10534	stomach cancer		ISO	RGD:733116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8748904	Fosl2	FOS like 2, AP-1 transcription factor subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733116	D	RGD:9068941	20220826	RGD		protein:increased expression:colon (human)	PMID:22419013|REF_RGD_ID:153344572
8748904	Fosl2	FOS like 2, AP-1 transcription factor subunit	gene	DOID:3068	glioblastoma		ISO	RGD:733116	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23582323
8748904	Fosl2	FOS like 2, AP-1 transcription factor subunit	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:733116	D	RGD:9068941	20220818	RGD		protein:increased expression:lung (human)	PMID:25375657|REF_RGD_ID:11074609
8748904	Fosl2	FOS like 2, AP-1 transcription factor subunit	gene	DOID:418	systemic scleroderma		ISO	RGD:10598	D	RGD:9068941	20240425	MouseDO		OMIM:181750	
8748904	Fosl2	FOS like 2, AP-1 transcription factor subunit	gene	DOID:4451	renal carcinoma		ISO	RGD:2628	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:9405228|REF_RGD_ID:2293758
8748904	Fosl2	FOS like 2, AP-1 transcription factor subunit	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:733116	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8748904	Fosl2	FOS like 2, AP-1 transcription factor subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8748904	Fosl2	FOS like 2, AP-1 transcription factor subunit	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2628	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:15121240|REF_RGD_ID:2293779
8748904	Fosl2	FOS like 2, AP-1 transcription factor subunit	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:733116	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
8748904	Fosl2	FOS like 2, AP-1 transcription factor subunit	gene	DOID:9006618	Liver Metastasis		ISO	RGD:733116	D	RGD:9068941	20220825	RGD		human cells in mouse model	PMID:30114390|REF_RGD_ID:153344554
8748904	Fosl2	FOS like 2, AP-1 transcription factor subunit	gene	DOID:9009092	APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME		ISO	RGD:733116	D	RGD:7240710	20251008	OMIM			
8748904	Fosl2	FOS like 2, AP-1 transcription factor subunit	gene	DOID:9009092	APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME		ISO	RGD:733116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME	PMID:25741868|PMID:36197437
8748904	Fosl2	FOS like 2, AP-1 transcription factor subunit	gene	DOID:9009121	lung metastasis		ISO	RGD:733116	D	RGD:9068941	20220825	RGD		human cells in mouse model	PMID:30326930|REF_RGD_ID:153344557
8748904	Fosl2	FOS like 2, AP-1 transcription factor subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:733116	D	RGD:9068941	20220825	RGD		MRNA, protein:increased expression:colon (human)	PMID:35034245|REF_RGD_ID:153344553
8748904	Fosl2	FOS like 2, AP-1 transcription factor subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:733116	D	RGD:9068941	20220825	RGD		mRNA:increased expression:colon (human)	PMID:30114390|REF_RGD_ID:153344554
8748904	Fosl2	FOS like 2, AP-1 transcription factor subunit	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:733116	D	RGD:9068941	20220825	RGD		mRNA:increased expression:nasopharynx (human)	PMID:30326930|REF_RGD_ID:153344557
8748923	Itgb4	integrin subunit beta 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748923	Itgb4	integrin subunit beta 4	gene	DOID:0060733	junctional epidermolysis bullosa with pyloric atresia		ISO	RGD:733257	D	RGD:7240710	20180130	OMIM			
8748923	Itgb4	integrin subunit beta 4	gene	DOID:0060733	junctional epidermolysis bullosa with pyloric atresia		ISO	RGD:733257	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis with pyloric atresia | ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia | ClinVar Annotator: match by term: junctional epidermolysis bullosa with pyloric atresia	PMID:11251584|PMID:11328943|PMID:15009117|PMID:16199547|PMID:16473856|PMID:17576681|PMID:18779879|PMID:18955862|PMID:20301304|PMID:23013259|PMID:23496044|PMID:24033266|PMID:25741868|PMID:26739954|PMID:28492532|PMID:30011071|PMID:33937469|PMID:34046686|PMID:34597860|PMID:36287101|PMID:9422533|PMID:9536098|PMID:9546354|PMID:9792864|PMID:9892956
8748923	Itgb4	integrin subunit beta 4	gene	DOID:0060738	junctional epidermolysis bullosa non-Herlitz type		ISO	RGD:733258	D	RGD:9068941	20260521	MouseDO		OMIM:226650	
8748923	Itgb4	integrin subunit beta 4	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:733257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8748923	Itgb4	integrin subunit beta 4	gene	DOID:0080510	epidermolysis bullosa simplex 1C		ISO	RGD:733257	D	RGD:8554872	20260505	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized	PMID:11328943|PMID:16473856|PMID:25741868|PMID:28492532
8748923	Itgb4	integrin subunit beta 4	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:733257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:25741868
8748923	Itgb4	integrin subunit beta 4	gene	DOID:10534	stomach cancer		ISO	RGD:733257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8748923	Itgb4	integrin subunit beta 4	gene	DOID:1184	nephrotic syndrome		ISO	RGD:733257	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:25741868|PMID:28492532
8748923	Itgb4	integrin subunit beta 4	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:733257	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:25741868
8748923	Itgb4	integrin subunit beta 4	gene	DOID:1909	melanoma		ISO	RGD:733257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8748923	Itgb4	integrin subunit beta 4	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:733257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aplasia cutis congenita	PMID:11328943|PMID:15009117|PMID:16473856|PMID:25741868|PMID:28492532|PMID:30011071
8748923	Itgb4	integrin subunit beta 4	gene	DOID:2730	epidermolysis bullosa		ISO	RGD:733257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18348258
8748923	Itgb4	integrin subunit beta 4	gene	DOID:3209	junctional epidermolysis bullosa		ISO	RGD:733257	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:7545057
8748923	Itgb4	integrin subunit beta 4	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:733257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27107458
8748923	Itgb4	integrin subunit beta 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:733257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8748923	Itgb4	integrin subunit beta 4	gene	DOID:4362	cervical cancer		ISO	RGD:733257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:11328943|PMID:16199547|PMID:16473856|PMID:25741868|PMID:28492532
8748923	Itgb4	integrin subunit beta 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8748923	Itgb4	integrin subunit beta 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:25741868
8748923	Itgb4	integrin subunit beta 4	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:733257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868
8748923	Itgb4	integrin subunit beta 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8748923	Itgb4	integrin subunit beta 4	gene	DOID:576	proteinuria		ISO	RGD:733257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868
8748923	Itgb4	integrin subunit beta 4	gene	DOID:630	genetic disease		ISO	RGD:733257	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:36413997
8748923	Itgb4	integrin subunit beta 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8748923	Itgb4	integrin subunit beta 4	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:733257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8748923	Itgb4	integrin subunit beta 4	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:733257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8748923	Itgb4	integrin subunit beta 4	gene	DOID:9003431	Junctional Epidermolysis Bullosa 5A, Intermediate		ISO	RGD:733257	D	RGD:7240710	20220608	OMIM			
8748923	Itgb4	integrin subunit beta 4	gene	DOID:9003431	Junctional Epidermolysis Bullosa 5A, Intermediate		ISO	RGD:733257	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, NON-HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate	PMID:11251584|PMID:11328943|PMID:14705814|PMID:15009117|PMID:16199547|PMID:16473856|PMID:18563182|PMID:18779879|PMID:23013259|PMID:25741868|PMID:26739954|PMID:28492532|PMID:30011071|PMID:9792864
8748923	Itgb4	integrin subunit beta 4	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:733257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868
8748923	Itgb4	integrin subunit beta 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8748923	Itgb4	integrin subunit beta 4	gene	DOID:9007402	Gliosis		ISO	RGD:733257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12851778
8748923	Itgb4	integrin subunit beta 4	gene	DOID:9007499	Pyloric Atresia		ISO	RGD:733257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18348258|PMID:7545057
8748923	Itgb4	integrin subunit beta 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8748975	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8748975	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748975	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347457	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8748975	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8748975	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1347457	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8748975	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1347457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8748975	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8748975	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1347457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8748975	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748975	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8748975	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8748975	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8748975	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1347457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:0050562	West syndrome		ISO	RGD:733702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypsarrhythmia | ClinVar Annotator: match by term: Infantile spasms	PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943|PMID:32695065|PMID:33776624|PMID:35937981
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:0060239	Van der Woude syndrome		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip and/or palate with mucous cysts of lower lip	PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:0060249	scoliosis		ISO	RGD:733702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532|PMID:30343943|PMID:32695065|PMID:33776624|PMID:35937981
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:0080833	laryngomalacia		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:733702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: developmental and epileptic encephalopathy	PMID:17660294|PMID:23934111|PMID:25741868|PMID:26680202|PMID:28135719|PMID:28492532|PMID:30343943|PMID:31785789|PMID:32695065|PMID:33776624|PMID:35937981
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:0112205	developmental and epileptic encephalopathy 69		ISO	RGD:733702	D	RGD:7240710	20190315	OMIM			
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:0112205	developmental and epileptic encephalopathy 69		ISO	RGD:733702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CACNA1E-related condition | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 69 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69	PMID:16199547|PMID:17660294|PMID:23934111|PMID:24755471|PMID:25741868|PMID:28492532|PMID:30343943|PMID:31468518|PMID:32695065|PMID:33776624|PMID:34906502|PMID:35937981
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:10534	stomach cancer		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:1059	intellectual disability		ISO	RGD:733702	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868|PMID:28492532
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:1115	sarcoma		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:1143	exotropia		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:30343943
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:11836	clubfoot		ISO	RGD:733702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus | ClinVar Annotator: match by term: Clubfoot	PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943|PMID:32695065|PMID:33776624|PMID:35937981
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:12849	autistic disorder		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:22495309|PMID:25741868|PMID:26795593|PMID:28492532|PMID:30343943
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:1324	lung cancer		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:1826	epilepsy		ISO	RGD:733702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22495309|PMID:25741868|PMID:26795593|PMID:28492532|PMID:30343943|PMID:32695065|PMID:33776624|PMID:35937981
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:1827	generalized epilepsy		ISO	RGD:733702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868|PMID:28492532|PMID:30343943|PMID:32695065|PMID:33776624|PMID:35937981
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:255	hemangioma		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:30343943
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:3327	partial motor epilepsy		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal tonic seizure	PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:733702	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:28492532
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:4195	hyperglycemia		ISO	RGD:733703	D	RGD:9068941	20200609	RGD			PMID:11735114|REF_RGD_ID:734670
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:4362	cervical cancer		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:535	sleep disorder		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:30343943
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:543	dystonia		ISO	RGD:733702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:28492532|PMID:30343943|PMID:32695065|PMID:33776624|PMID:35937981
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:630	genetic disease		ISO	RGD:733702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17660294|PMID:21652722|PMID:23934111|PMID:25741868|PMID:28492532|PMID:29951751|PMID:30343943|PMID:32695065|PMID:33776624|PMID:35937981|PMID:36446785
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:733702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943|PMID:32695065|PMID:33776624|PMID:35937981
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:9000343	Vision Disorders		ISO	RGD:733702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943|PMID:32695065|PMID:33776624|PMID:35937981
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:9001581	Constipation		ISO	RGD:733702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943|PMID:32695065|PMID:33776624|PMID:35937981
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868|PMID:30343943
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:9002580	Metatarsus Varus		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metatarsus adductus	PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:9003816	Macrocephaly		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:9004014	Adducted Thumbs Syndrome		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumbs, congenital Clasped	PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:733702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868|PMID:28492532|PMID:30343943|PMID:32695065|PMID:33776624|PMID:35937981
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:9004865	Nuchal Cord		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nuchal cord	PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:9005077	Joint Instability		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:30343943
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943|PMID:32695065|PMID:33776624|PMID:35937981
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:9005616	Micrognathism		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:9006462	Coma		ISO	RGD:733702	D	RGD:8554872	20220621	ClinVar		ClinVar Annotator: match by term: Episodic coma	PMID:28492532
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:9007661	Dwarfism		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17660294|PMID:22495309|PMID:23934111|PMID:25741868|PMID:26795593|PMID:28492532|PMID:30343943
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17660294|PMID:22495309|PMID:23934111|PMID:25741868|PMID:26795593|PMID:28492532|PMID:30343943|PMID:32695065|PMID:33776624|PMID:35937981
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:9008582	Developmental Disease		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:9009396	Van der Woude Syndrome 1		ISO	RGD:733702	D	RGD:8554872	20251014	ClinVar		ClinVar Annotator: match by term: Van der Woude syndrome 1	PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:9650	pathologic nystagmus		ISO	RGD:733702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532|PMID:30343943|PMID:32695065|PMID:33776624|PMID:35937981
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:9834	hyperopia		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:30343943
8748986	Cacna1e	calcium voltage-gated channel subunit alpha1 E	gene	DOID:9970	obesity		ISO	RGD:733702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:30343943
8749048	Sh2b1	SH2B adaptor protein 1	gene	DOID:0060398	chromosome 16p11.2 deletion syndrome, 220-kb		ISO	RGD:1603671	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome, 220 kb	PMID:25741868|PMID:28492532|PMID:29631267|PMID:31439647
8749048	Sh2b1	SH2B adaptor protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8749048	Sh2b1	SH2B adaptor protein 1	gene	DOID:1143	exotropia		ISO	RGD:1603671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:23160192|PMID:25741868
8749048	Sh2b1	SH2B adaptor protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1603671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:29631267|PMID:31439647
8749048	Sh2b1	SH2B adaptor protein 1	gene	DOID:1909	melanoma		ISO	RGD:1603671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8749048	Sh2b1	SH2B adaptor protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1603671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8749048	Sh2b1	SH2B adaptor protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8749048	Sh2b1	SH2B adaptor protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8749048	Sh2b1	SH2B adaptor protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603671	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8749048	Sh2b1	SH2B adaptor protein 1	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1603671	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868|PMID:28492532|PMID:29631267|PMID:31439647
8749048	Sh2b1	SH2B adaptor protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749048	Sh2b1	SH2B adaptor protein 1	gene	DOID:9970	obesity		ISO	RGD:1603671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: obesity	PMID:23160192|PMID:25741868
8749082	Allc	allantoicase	gene	DOID:1909	melanoma		ISO	RGD:736731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8749082	Allc	allantoicase	gene	DOID:2394	ovarian cancer		ISO	RGD:736731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8749082	Allc	allantoicase	gene	DOID:4362	cervical cancer		ISO	RGD:736731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8749082	Allc	allantoicase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8749082	Allc	allantoicase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:736731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8749082	Allc	allantoicase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:10283	prostate cancer		ISO	RGD:1346048	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate (human)	PMID:22120715|REF_RGD_ID:9586733
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:10283	prostate cancer		ISO	RGD:1346048	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate gland (human)	PMID:20127736|REF_RGD_ID:9587486
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:10534	stomach cancer		ISO	RGD:1346048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:1324	lung cancer		ISO	RGD:1346048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:1909	melanoma		ISO	RGD:1346048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:219	colon cancer	severity	ISO	RGD:1346048	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:19858293|REF_RGD_ID:9590225
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:3070	high grade glioma		ISO	RGD:1346048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:3369	Ewing sarcoma		ISO	RGD:1346048	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow (human)	PMID:24362521|REF_RGD_ID:9590218
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:4362	cervical cancer		ISO	RGD:1346048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:4362	cervical cancer	severity	ISO	RGD:1346048	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:23492365|REF_RGD_ID:9590219
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:5041	esophageal cancer		ISO	RGD:1346048	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:9002669	Hypoxia		ISO	RGD:708351	D	RGD:9068941	20200609	RGD		mRNA:increased expression:multiple (rat)	PMID:18538129|REF_RGD_ID:9586363
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:9261	nasopharynx carcinoma	severity	ISO	RGD:1346048	D	RGD:9068941	20200609	RGD		protein:decreased expression:nasopharyngeal epithelium (human)	PMID:21541331|REF_RGD_ID:9590228
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:9970	obesity		ISO	RGD:737255	D	RGD:9068941	20200609	RGD			PMID:19875498|REF_RGD_ID:9590220
8749103	Kdm3a	lysine demethylase 3A	gene	DOID:9970	obesity		ISO	RGD:737255	D	RGD:9068941	20220825	MouseDO		OMIM:601665	
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrioventricular septal defect	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0050847	sleep apnea		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:19264732|PMID:20945554|PMID:25741868|PMID:39013458
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0050871	fibroma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fibroma	PMID:25741868|PMID:39013458
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0050902	medulloblastoma		ISO	RGD:1316868	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:20945554|PMID:27651234
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060249	scoliosis		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:15805155|PMID:16826528|PMID:19264732|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060320	inguinal hernia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060352	Kleefstra syndrome 1		ISO	RGD:1316868	D	RGD:7240710	20190320	OMIM			
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060352	Kleefstra syndrome 1		ISO	RGD:1316868	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EHMT1-related condition | ClinVar Annotator: match by term: KLEEFSTRA SYNDROME 1 | ClinVar Annotator: match by term: Kleefstra Syndrome 1 | ClinVar Annotator: match by term: Kleefstra syndrome 1	PMID:15805155|PMID:16199547|PMID:16826528|PMID:17576681|PMID:18414213|PMID:19264732|PMID:20945554|PMID:21538692|PMID:22670141|PMID:22726846|PMID:24088041|PMID:25640679|PMID:25741868|PMID:2663354|PMID:26633542|PMID:26633545|PMID:26808425|PMID:28057753|PMID:28492532|PMID:28512736|PMID:29276005|PMID:29416845|PMID:29758562|PMID:30525188|PMID:30542205|PMID:31322791|PMID:31785789|PMID:32335911|PMID:33057194|PMID:33288889|PMID:33767182|PMID:33834462|PMID:35597848|PMID:35982159|PMID:36413997|PMID:38290825|PMID:39013458|PMID:39696517|PMID:9536098
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0080074	neural tube defect		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neural tube defect	PMID:28492532
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0080597	Kleefstra syndrome		ISO	RGD:1316868	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Kleefstra syndrome	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0080918	polymicrogyria		ISO	RGD:1316868	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:15805155|PMID:16826528|PMID:19264732|PMID:20945554|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425|PMID:28492532|PMID:39013458
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:10907	microcephaly		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:15805155|PMID:16826528|PMID:19264732|PMID:20945554|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425|PMID:39013458
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:10965	spastic diplegia		ISO	RGD:1316868	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:11714	gestational diabetes		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:28492532
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:11782	astigmatism		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:15805155|PMID:16826528|PMID:19264732|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:11830	myopia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:16826528|PMID:19264732|PMID:25741868|PMID:28492532|PMID:28554332|PMID:35904121
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:11836	clubfoot		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:19264732|PMID:20945554|PMID:25741868|PMID:39013458
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:12337	varicocele		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Varicocele	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1316868	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:19264732|PMID:20945554|PMID:25741868|PMID:28492532|PMID:39013458
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:28492532
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1316868	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:28492532
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:1757	facial hemiatrophy		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hemiatrophy	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:1826	epilepsy		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:28492532
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:28492532
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1316868	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868|PMID:39013458
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1316868	D	RGD:9068941	20200609	RGD		protein:increased expression:esophagus mucosa:	PMID:24805087|REF_RGD_ID:9590071
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:1316868	D	RGD:9068941	20200609	RGD		protein:increased expression:esophagus:	PMID:24649311|REF_RGD_ID:9589143
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:4188	echolalia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Echolalia	PMID:19264732|PMID:20945554|PMID:25741868|PMID:39013458
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:5119	ovarian cyst		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cyst	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1316868	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15805155|PMID:16826528|PMID:18264113|PMID:19264732|PMID:20945554|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425|PMID:28057753|PMID:28492532|PMID:39013458
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:28492532
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:6364	migraine		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:6543	acne		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acne	PMID:25741868|PMID:39013458
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:848	arthritis		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthritis	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:8893	psoriasis		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psoriasis	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:19264732|PMID:20945554|PMID:25741868|PMID:39013458
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9000892	Fetal Distress		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal distress	PMID:28492532
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:15805155|PMID:16826528|PMID:19264732|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:39013458
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9002594	High Hyperopia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperopia, high	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9002916	Hyperphagia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:25741868|PMID:39013458
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9006637	Schizencephaly		ISO	RGD:1316868	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Schizencephaly	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1316868	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868|PMID:32277047|PMID:36250449
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:39013458
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9007817	Macroglossia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:25741868|PMID:39013458
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:15805155|PMID:16826528|PMID:19264732|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425|PMID:28492532|PMID:39013458
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9008268	Enuresis		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enuresis	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9008385	Vomiting		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain insensitivity	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:930	orbital disease		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868|PMID:39013458
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9834	hyperopia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9840	esotropia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:28492532
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1316868	D	RGD:9068941	20210604	CTD		CTD Direct Evidence: marker/mechanism	PMID:32889036
8749136	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9970	obesity		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:19264732|PMID:20945554|PMID:25741868|PMID:39013458
8749193	Hdac7	histone deacetylase 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8749193	Hdac7	histone deacetylase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8749193	Hdac7	histone deacetylase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1349346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8749193	Hdac7	histone deacetylase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8749193	Hdac7	histone deacetylase 7	gene	DOID:1115	sarcoma		ISO	RGD:1349346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8749193	Hdac7	histone deacetylase 7	gene	DOID:12858	Huntington's disease		ISO	RGD:1552552	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain:	PMID:21118817|REF_RGD_ID:9681718
8749193	Hdac7	histone deacetylase 7	gene	DOID:1324	lung cancer		ISO	RGD:1349346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8749193	Hdac7	histone deacetylase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1349346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8749193	Hdac7	histone deacetylase 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1349346	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8749193	Hdac7	histone deacetylase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749193	Hdac7	histone deacetylase 7	gene	DOID:6039	uveal melanoma		ISO	RGD:1349346	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8749193	Hdac7	histone deacetylase 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8749193	Hdac7	histone deacetylase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8749193	Hdac7	histone deacetylase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8749193	Hdac7	histone deacetylase 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1349346	D	RGD:9068941	20260709	RGD		mRNA:increased expression:colon:	PMID:23724067|REF_RGD_ID:9590193
8749193	Hdac7	histone deacetylase 7	gene	DOID:986	alopecia areata		ISO	RGD:1349346	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:mononuclear cell:	PMID:21936853|REF_RGD_ID:9587460
8749266	Rnf125	ring finger protein 125	gene	DOID:1324	lung cancer		ISO	RGD:1315557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8749266	Rnf125	ring finger protein 125	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8749266	Rnf125	ring finger protein 125	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749266	Rnf125	ring finger protein 125	gene	DOID:630	genetic disease		ISO	RGD:1315557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8749266	Rnf125	ring finger protein 125	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8749266	Rnf125	ring finger protein 125	gene	DOID:9000905	Tenorio Syndrome		ISO	RGD:1315557	D	RGD:7240710	20180130	OMIM			
8749266	Rnf125	ring finger protein 125	gene	DOID:9000905	Tenorio Syndrome		ISO	RGD:1315557	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: RNF125-related condition | ClinVar Annotator: match by term: TENORIO SYNDROME | ClinVar Annotator: match by term: Tenorio syndrome	PMID:25196541|PMID:25741868|PMID:28492532|PMID:34196401
8749281	Ldb3	LIM domain binding 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1351488	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:11696561|PMID:14662268|PMID:15668942|PMID:16476425|PMID:17097056|PMID:17235623|PMID:17337483|PMID:17438622|PMID:17576681|PMID:18055494|PMID:18765652|PMID:19028670|PMID:19377068|PMID:19412328|PMID:20301672|PMID:20474083|PMID:20590677|PMID:20852297|PMID:21676617|PMID:22337857|PMID:23263837|PMID:23299917|PMID:23396983|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:24668811|PMID:25041374|PMID:25163546|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26350513|PMID:26467025|PMID:27005929|PMID:27618136|PMID:27884173|PMID:27896284|PMID:28349680|PMID:28492532|PMID:28798025|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31568572|PMID:31737537|PMID:32721234|PMID:32880476|PMID:33297573|PMID:33500567|PMID:33552729|PMID:33742095|PMID:34935411|PMID:4855680|PMID:9536098
8749281	Ldb3	LIM domain binding 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1351488	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:11696561|PMID:14662268|PMID:15668942|PMID:16476425|PMID:17097056|PMID:17235623|PMID:17337483|PMID:17438622|PMID:17576681|PMID:18055494|PMID:18765652|PMID:19028670|PMID:19377068|PMID:19412328|PMID:20301672|PMID:20474083|PMID:20590677|PMID:20852297|PMID:21676617|PMID:21952291|PMID:22337857|PMID:23263837|PMID:23299917|PMID:23396983|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:24668811|PMID:25041374|PMID:25163546|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26350513|PMID:26467025|PMID:27005929|PMID:27618136|PMID:27884173|PMID:27896284|PMID:28349680|PMID:28492532|PMID:28569743|PMID:28594829|PMID:28798025|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31568572|PMID:31737537|PMID:32721234|PMID:32880476|PMID:33297573|PMID:33452016|PMID:33500567|PMID:33552729|PMID:33633783|PMID:33742095|PMID:34935411|PMID:35087879|PMID:37477868|PMID:38002998|PMID:4855680|PMID:9536098
8749281	Ldb3	LIM domain binding 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1351488	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:11696561|PMID:17235623|PMID:17438622|PMID:17576681|PMID:19028670|PMID:19412328|PMID:20301672|PMID:20474083|PMID:20590677|PMID:21952291|PMID:22337857|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25041374|PMID:25163546|PMID:25616123|PMID:25741868|PMID:26350513|PMID:26383259|PMID:26467025|PMID:27896284|PMID:28492532|PMID:28569743|PMID:28594829|PMID:28798025|PMID:29032884|PMID:30847666|PMID:30937429|PMID:31078652|PMID:31471687|PMID:33452016|PMID:33500567|PMID:33633783|PMID:33906374|PMID:36178741|PMID:36253531|PMID:37477868|PMID:38002998|PMID:9536098
8749281	Ldb3	LIM domain binding 3	gene	DOID:0080092	myofibrillar myopathy 1		ISO	RGD:1557802	D	RGD:9068941	20220825	MouseDO		OMIM:601419	
8749281	Ldb3	LIM domain binding 3	gene	DOID:0080095	myofibrillar myopathy 4		ISO	RGD:1351488	D	RGD:7240710	20180130	OMIM			
8749281	Ldb3	LIM domain binding 3	gene	DOID:0080095	myofibrillar myopathy 4		ISO	RGD:1351488	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myofibrillar myopathy 4	PMID:11696561|PMID:14662268|PMID:15668942|PMID:16199547|PMID:17235623|PMID:17438622|PMID:17576681|PMID:19028670|PMID:19377068|PMID:19412328|PMID:20474083|PMID:20590677|PMID:21520333|PMID:22337857|PMID:22349865|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23263837|PMID:23299917|PMID:23396983|PMID:23785128|PMID:23861362|PMID:23996002|PMID:24033266|PMID:24503780|PMID:25041374|PMID:25163546|PMID:25616123|PMID:25741868|PMID:26350513|PMID:26383259|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27532257|PMID:27561770|PMID:27896284|PMID:28045975|PMID:28349680|PMID:28492532|PMID:28798025|PMID:29032884|PMID:29773157|PMID:29892087|PMID:30021846|PMID:30847666|PMID:30937429|PMID:31078652|PMID:31127727|PMID:31471687|PMID:31648988|PMID:31983221|PMID:32183154|PMID:33029862|PMID:33308939|PMID:33500567|PMID:33802723|PMID:33906374|PMID:34598319|PMID:34749429|PMID:35284542|PMID:35352813|PMID:36178741|PMID:36253531|PMID:36703223|PMID:37477868|PMID:38158391|PMID:38895864|PMID:9536098
8749281	Ldb3	LIM domain binding 3	gene	DOID:0080307	myofibrillar myopathy		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myofibrillar myopathy	PMID:28492532
8749281	Ldb3	LIM domain binding 3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1351488	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572
8749281	Ldb3	LIM domain binding 3	gene	DOID:0081337	congenital myopathy		ISO	RGD:1557802	D	RGD:9068941	20230615	MouseDO			
8749281	Ldb3	LIM domain binding 3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1351488	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1	PMID:28492532
8749281	Ldb3	LIM domain binding 3	gene	DOID:0110310	hypertrophic cardiomyopathy 4		ISO	RGD:1351488	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4	PMID:25741868|PMID:28492532
8749281	Ldb3	LIM domain binding 3	gene	DOID:0110320	hypertrophic cardiomyopathy 14		ISO	RGD:1351488	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14	PMID:25741868
8749281	Ldb3	LIM domain binding 3	gene	DOID:0110423	dilated cardiomyopathy 1C		ISO	RGD:1351488	D	RGD:7240710	20180130	OMIM			
8749281	Ldb3	LIM domain binding 3	gene	DOID:0110423	dilated cardiomyopathy 1C		ISO	RGD:1351488	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1C | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1C | ClinVar Annotator: match by term: LDB3-related condition	PMID:11696561|PMID:14662268|PMID:15668942|PMID:17097056|PMID:17235623|PMID:17337483|PMID:17438622|PMID:17576681|PMID:18765652|PMID:19028670|PMID:19377068|PMID:19412328|PMID:20474083|PMID:20590677|PMID:21676617|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:24668811|PMID:25041374|PMID:25163546|PMID:25208129|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26383259|PMID:26419279|PMID:26467025|PMID:26636822|PMID:26886200|PMID:27532257|PMID:27561770|PMID:27618136|PMID:27896284|PMID:28082330|PMID:28349680|PMID:28492532|PMID:28518168|PMID:28798025|PMID:29773157|PMID:30021846|PMID:30026549|PMID:30847666|PMID:31078652|PMID:31376648|PMID:31471687|PMID:31568572|PMID:31983221|PMID:33029862|PMID:33500567|PMID:33742095|PMID:35284542|PMID:36178741|PMID:36253531|PMID:37291118|PMID:37477868|PMID:37579221|PMID:9536098
8749281	Ldb3	LIM domain binding 3	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1351488	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	PMID:17235623|PMID:17438622|PMID:20474083|PMID:23299917|PMID:24033266|PMID:25041374|PMID:25616123|PMID:25741868|PMID:27896284|PMID:28492532|PMID:31078652
8749281	Ldb3	LIM domain binding 3	gene	DOID:0110443	dilated cardiomyopathy 1B		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial	PMID:24033266|PMID:25741868|PMID:28492532|PMID:30021846|PMID:33029862
8749281	Ldb3	LIM domain binding 3	gene	DOID:0110458	dilated cardiomyopathy 1BB		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy	PMID:19377068|PMID:23396983|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33906374
8749281	Ldb3	LIM domain binding 3	gene	DOID:1115	sarcoma		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8749281	Ldb3	LIM domain binding 3	gene	DOID:11720	distal myopathy		ISO	RGD:1351488	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.A165V (human)	PMID:17337483|REF_RGD_ID:11068981
8749281	Ldb3	LIM domain binding 3	gene	DOID:11722	myotonic dystrophy type 1		ISO	RGD:1351488	D	RGD:9068941	20200609	RGD		mRNA, protein:alternative form:exon	PMID:24878509|REF_RGD_ID:12792205
8749281	Ldb3	LIM domain binding 3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1351488	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:17235623|PMID:17438622|PMID:20474083|PMID:23299917|PMID:24033266|PMID:24503780|PMID:25041374|PMID:25616123|PMID:25741868|PMID:27532257|PMID:27896284|PMID:28492532|PMID:31078652
8749281	Ldb3	LIM domain binding 3	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532
8749281	Ldb3	LIM domain binding 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351488	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:19412328|PMID:20590677|PMID:20852297|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25741868|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27435932|PMID:27561770|PMID:27896284|PMID:28166811|PMID:28492532|PMID:29032884|PMID:31078652|PMID:31333075|PMID:31568572
8749281	Ldb3	LIM domain binding 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351488	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:19412328|PMID:20590677|PMID:20852297|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25741868|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27435932|PMID:27561770|PMID:27896284|PMID:28492532|PMID:29032884|PMID:31078652|PMID:31333075|PMID:31568572|PMID:31737537
8749281	Ldb3	LIM domain binding 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351488	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:19412328|PMID:20474083|PMID:20590677|PMID:20852297|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27435932|PMID:27561770|PMID:27896284|PMID:28492532|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31333075|PMID:31568572|PMID:31737537|PMID:33500567|PMID:33552729|PMID:34935411
8749281	Ldb3	LIM domain binding 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351488	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:17576681|PMID:19377068|PMID:19412328|PMID:20474083|PMID:20590677|PMID:20852297|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27435932|PMID:27561770|PMID:27896284|PMID:28492532|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31333075|PMID:31568572|PMID:31737537|PMID:33500567|PMID:33552729|PMID:34935411|PMID:35087879|PMID:36178741|PMID:9536098
8749281	Ldb3	LIM domain binding 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351488	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:14662268|PMID:15668942|PMID:16427346|PMID:17235623|PMID:17438622|PMID:18055494|PMID:20474083|PMID:22349865|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25041374|PMID:25326637|PMID:25616123|PMID:25741868|PMID:26342832|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27005929|PMID:27546599|PMID:27561770|PMID:27896284|PMID:28349680|PMID:28492532|PMID:31078652|PMID:33802723|PMID:35352813
8749281	Ldb3	LIM domain binding 3	gene	DOID:12930	dilated cardiomyopathy	no_association	ISO	RGD:1351488	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.D117N (human)	PMID:26419279|REF_RGD_ID:11527732
8749281	Ldb3	LIM domain binding 3	gene	DOID:1324	lung cancer		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8749281	Ldb3	LIM domain binding 3	gene	DOID:2843	long QT syndrome		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:25741868|PMID:28492532
8749281	Ldb3	LIM domain binding 3	gene	DOID:422	congenital structural myopathy		ISO	RGD:1557802	D	RGD:9068941	20200609	RGD			PMID:11696561|REF_RGD_ID:1581815
8749281	Ldb3	LIM domain binding 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8749281	Ldb3	LIM domain binding 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8749281	Ldb3	LIM domain binding 3	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:23861362|PMID:25741868|PMID:26383259|PMID:28492532|PMID:30847666|PMID:31471687
8749281	Ldb3	LIM domain binding 3	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction | ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:14662268|PMID:19377068|PMID:23996002|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572
8749281	Ldb3	LIM domain binding 3	gene	DOID:9000596	Isolated Noncompaction of the Ventricular Myocardium		ISO	RGD:1351488	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Isolated Noncompaction of the Ventricular Myocardium	PMID:25741868|PMID:28492532
8749281	Ldb3	LIM domain binding 3	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:1351488	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:25741868
8749281	Ldb3	LIM domain binding 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8749281	Ldb3	LIM domain binding 3	gene	DOID:9007288	Left Ventricular Noncompaction 1		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction 1	PMID:25741868
8749281	Ldb3	LIM domain binding 3	gene	DOID:9009353	Dilated Cardiomyopathy 2L		ISO	RGD:1351488	D	RGD:7240710	20250625	OMIM			
8749281	Ldb3	LIM domain binding 3	gene	DOID:9009353	Dilated Cardiomyopathy 2L		ISO	RGD:1351488	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 2L | ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2l	PMID:25741868|PMID:28492532|PMID:36253531
8749312	Ano9	anoctamin 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8749312	Ano9	anoctamin 9	gene	DOID:10283	prostate cancer		ISO	RGD:1345920	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8749312	Ano9	anoctamin 9	gene	DOID:10283	prostate cancer		ISO	RGD:1345920	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8749312	Ano9	anoctamin 9	gene	DOID:10534	stomach cancer		ISO	RGD:1345920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8749312	Ano9	anoctamin 9	gene	DOID:1115	sarcoma		ISO	RGD:1345920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8749312	Ano9	anoctamin 9	gene	DOID:1909	melanoma		ISO	RGD:1345920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8749312	Ano9	anoctamin 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1345920	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8749312	Ano9	anoctamin 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1345920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8749312	Ano9	anoctamin 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749312	Ano9	anoctamin 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8749312	Ano9	anoctamin 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8749312	Ano9	anoctamin 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8749312	Ano9	anoctamin 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8749312	Ano9	anoctamin 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8749340	Myo3b	myosin IIIB	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8749340	Myo3b	myosin IIIB	gene	DOID:0060058	lymphoma		ISO	RGD:1352249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8749340	Myo3b	myosin IIIB	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8749340	Myo3b	myosin IIIB	gene	DOID:1324	lung cancer		ISO	RGD:1352249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8749340	Myo3b	myosin IIIB	gene	DOID:1909	melanoma		ISO	RGD:1352249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8749340	Myo3b	myosin IIIB	gene	DOID:2394	ovarian cancer		ISO	RGD:1352249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8749340	Myo3b	myosin IIIB	gene	DOID:3070	high grade glioma		ISO	RGD:1352249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8749340	Myo3b	myosin IIIB	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8749340	Myo3b	myosin IIIB	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8749340	Myo3b	myosin IIIB	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:1350368	D	RGD:9068941	20200609	RGD			PMID:25307863|REF_RGD_ID:11528847
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:1552237	D	RGD:9068941	20200609	RGD			PMID:25307863|REF_RGD_ID:11528847
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:0050581	brachydactyly		ISO	RGD:1350368	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:0050604	acrocapitofemoral dysplasia		ISO	RGD:1350368	D	RGD:7240710	20180130	OMIM			
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:0050604	acrocapitofemoral dysplasia		ISO	RGD:1350368	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACROCAPITOFEMORAL DYSPLASIA | ClinVar Annotator: match by term: Acrocapitofemoral dysplasia	PMID:25741868|PMID:28492532
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1350368	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:26691363|REF_RGD_ID:11561296
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:0060850	annular pancreas		ISO	RGD:1552237	D	RGD:9068941	20220825	MouseDO		OMIM:167750	
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:0080050	acromesomelic dysplasia, Maroteaux type		ISO	RGD:1350368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type	PMID:25741868
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:0110964	brachydactyly type A1		ISO	RGD:1350368	D	RGD:7240710	20180130	OMIM			
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:0110964	brachydactyly type A1		ISO	RGD:1350368	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: BRACHYDACTYLY, TYPE A1 | ClinVar Annotator: match by term: Brachydactyly type A1 | ClinVar Annotator: match by term: IHH-related condition	PMID:11455389|PMID:12384778|PMID:12566523|PMID:17486609|PMID:19252479|PMID:19277064|PMID:21537345|PMID:25696018|PMID:25741868|PMID:28492532|PMID:28794911|PMID:29155992|PMID:30602027|PMID:31502745|PMID:32209048|PMID:32311039|PMID:35846898
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:0111816	syndactyly type 1		ISO	RGD:1350368	D	RGD:9068941	20200609	RGD		DNA:duplications	PMID:21167467|REF_RGD_ID:12910956
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1350368	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	PMID:25741868
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:10534	stomach cancer		ISO	RGD:1350368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:1350368	D	RGD:9068941	20200609	RGD		DNA:SNP	PMID:18787502|REF_RGD_ID:12910978
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1350368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:2602	chondroma		ISO	RGD:1552237	D	RGD:9068941	20200609	RGD			PMID:26091072|REF_RGD_ID:12910968
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:289	endometriosis		ISO	RGD:1350368	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1350368	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:5119	ovarian cyst		ISO	RGD:1350368	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:630	genetic disease		ISO	RGD:1350368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12632327|PMID:28492532
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:8398	osteoarthritis		ISO	RGD:1350368	D	RGD:9068941	20200609	RGD		protein:increased expression:cartilage	PMID:24786088|REF_RGD_ID:12910979
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:8398	osteoarthritis		ISO	RGD:1552237	D	RGD:9068941	20200609	RGD			PMID:24786088|REF_RGD_ID:12910979
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:8398	osteoarthritis		ISO	RGD:620021	D	RGD:9068941	20200609	RGD			PMID:24786088|REF_RGD_ID:12910979
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:9002869	Schistosomiasis Mansoni		ISO	RGD:1350368	D	RGD:9068941	20200609	RGD			PMID:23121638|REF_RGD_ID:12910981
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:9003004	MICROMELIA		ISO	RGD:1350368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micromelia	PMID:25741868
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1350368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:9005639	Mandibular Fractures		ISO	RGD:620021	D	RGD:9068941	20200609	RGD			PMID:23992905|REF_RGD_ID:12911207
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:9007661	Dwarfism		ISO	RGD:1350368	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8749377	Ihh	Indian hedgehog signaling molecule	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1350368	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:0060438	Cole-Carpenter syndrome		ISO	RGD:1323325	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:0080010	bone structure disease		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of bone mineral density	PMID:16199547|PMID:25683121|PMID:28492532|PMID:30462379
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:10534	stomach cancer		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:1115	sarcoma		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:1324	lung cancer		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:1826	epilepsy		ISO	RGD:1323325	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25741868
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:1909	melanoma		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:16199547|PMID:25683121|PMID:28492532|PMID:30462379
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:3275	thymoma		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:4362	cervical cancer		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:5041	esophageal cancer		ISO	RGD:1323325	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:630	genetic disease		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:25683121|PMID:28492532|PMID:30462379
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:9004736	Cole-Carpenter Syndrome 2		ISO	RGD:1323325	D	RGD:7240710	20180130	OMIM			
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:9004736	Cole-Carpenter Syndrome 2		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COLE-CARPENTER SYNDROME 2 | ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 | ClinVar Annotator: match by term: SEC24D-related condition	PMID:25683121|PMID:25741868|PMID:26467156|PMID:27942778|PMID:28492532|PMID:30462379|PMID:37270749
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8749384	Sec24d	SEC24 homolog D, COPII component	gene	DOID:9256	colorectal cancer		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8749420	Hnrnph2	heterogeneous nuclear ribonucleoprotein H2	gene	DOID:0050450	Gitelman syndrome		ISO	RGD:1605724	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia	PMID:25741868|PMID:27545675|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778
8749420	Hnrnph2	heterogeneous nuclear ribonucleoprotein H2	gene	DOID:0070538	syndromic X-linked intellectual developmental disorder Bain type		ISO	RGD:1605724	D	RGD:7240710	20190315	OMIM			
8749420	Hnrnph2	heterogeneous nuclear ribonucleoprotein H2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605724	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive	PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:34008892
8749420	Hnrnph2	heterogeneous nuclear ribonucleoprotein H2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605724	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy	PMID:25741868|PMID:27545675|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778
8749426	Rhou	ras homolog family member U	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8749426	Rhou	ras homolog family member U	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8749426	Rhou	ras homolog family member U	gene	DOID:1324	lung cancer		ISO	RGD:1347334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8749426	Rhou	ras homolog family member U	gene	DOID:2394	ovarian cancer		ISO	RGD:1347334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8749426	Rhou	ras homolog family member U	gene	DOID:3070	high grade glioma		ISO	RGD:1347334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8749426	Rhou	ras homolog family member U	gene	DOID:3275	thymoma		ISO	RGD:1347334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8749426	Rhou	ras homolog family member U	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749426	Rhou	ras homolog family member U	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8749432	Cnpy4	canopy FGF signaling regulator 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606674	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8749442	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8749442	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8749442	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8749442	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8749442	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8749442	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8749442	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8749442	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749442	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8749442	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8749442	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8749442	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:0050715	methylmalonic aciduria and homocystinuria type cblC		ISO	RGD:1601765	D	RGD:7240710	20180130	OMIM			
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:0050715	methylmalonic aciduria and homocystinuria type cblC		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE | ClinVar Annotator: match by term: MMACHC-related condition | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC	PMID:0157807|PMID:11261516|PMID:16199547|PMID:1631159|PMID:16311595|PMID:16714133|PMID:17576681|PMID:17768669|PMID:17853453|PMID:18164228|PMID:18245139|PMID:19370762|PMID:19573432|PMID:19700356|PMID:19760748|PMID:19767224|PMID:19836982|PMID:19914430|PMID:20610126|PMID:20631720|PMID:20652818|PMID:20924684|PMID:21055272|PMID:21114891|PMID:21697092|PMID:22642810|PMID:23241609|PMID:23754956|PMID:23825108|PMID:23837176|PMID:23932106|PMID:23954310|PMID:24033266|PMID:24126030|PMID:24210589|PMID:2459960|PMID:24599607|PMID:24853097|PMID:25388550|PMID:25398587|PMID:25668207|PMID:25672861|PMID:25689098|PMID:25741868|PMID:25742969|PMID:25772322|PMID:25894566|PMID:26149271|PMID:26270766|PMID:26287336|PMID:26467025|PMID:26563984|PMID:26658511|PMID:26825575|PMID:26979128|PMID:26990548|PMID:27252276|PMID:27383490|PMID:27751223|PMID:28151490|PMID:28218226|PMID:28327205|PMID:28481040|PMID:28492532|PMID:28693988|PMID:28835862|PMID:29068997|PMID:29294253|PMID:29302025|PMID:29340559|PMID:29374341|PMID:29379858|PMID:29453417|PMID:29558000|PMID:29581464|PMID:29731766|PMID:30041674|PMID:30157807|PMID:30197982|PMID:30209273|PMID:30293248|PMID:30863077|PMID:31092259|PMID:31137025|PMID:31203424|PMID:31279840|PMID:31470807|PMID:31503356|PMID:31555752|PMID:31574870|PMID:31589614|PMID:31998365|PMID:32005694|PMID:32071835|PMID:32164588|PMID:32208535|PMID:32481360|PMID:32778825|PMID:32943488|PMID:33240318|PMID:33411215|PMID:33473346|PMID:33691766|PMID:33726816|PMID:33931066|PMID:33982424|PMID:34102818|PMID:34215320|PMID:34356170|PMID:34389282|PMID:34445196|PMID:34976764|PMID:35069678|PMID:35109910|PMID:35127762|PMID:35156754|PMID:35193651|PMID:35361390|PMID:35464742|PMID:35865640|PMID:36056359|PMID:36246604|PMID:36849356|PMID:37770946|PMID:38070096|PMID:38387306|PMID:38750596|PMID:38928247|PMID:39916850|PMID:40441036|PMID:6311595|PMID:9536098
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1601765	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5	PMID:16311595|PMID:16714133|PMID:17768669|PMID:17853453|PMID:18164228|PMID:19370762|PMID:19760748|PMID:20549364|PMID:20610126|PMID:20631720|PMID:23757202|PMID:23837176|PMID:24033266|PMID:24126030|PMID:24599607|PMID:25687216|PMID:25741868|PMID:25894566|PMID:26467025|PMID:28492532|PMID:29396438|PMID:31279840
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:1059	intellectual disability		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:16311595|PMID:19370762|PMID:20631720|PMID:23954310|PMID:25741868|PMID:25772322|PMID:26283149|PMID:27383490|PMID:28327205|PMID:28492532|PMID:30209273
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:10907	microcephaly		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16311595|PMID:19370762|PMID:20631720|PMID:23954310|PMID:25741868|PMID:25772322|PMID:26283149|PMID:27383490|PMID:28327205|PMID:28492532|PMID:30209273
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:10908	hydrocephalus		ISO	RGD:1601765	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:16311595|PMID:19370762|PMID:20631720|PMID:23954310|PMID:25741868|PMID:25772322|PMID:26283149|PMID:27383490|PMID:28327205|PMID:28492532|PMID:30209273
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:12849	autistic disorder		ISO	RGD:1601765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:16311595|PMID:16714133|PMID:17768669|PMID:17853453|PMID:18164228|PMID:18245139|PMID:19370762|PMID:19700356|PMID:19760748|PMID:20219402|PMID:20549364|PMID:20610126|PMID:20631720|PMID:21055272|PMID:22560872|PMID:23825108|PMID:23837176|PMID:24033266|PMID:24126030|PMID:24599607|PMID:25687216|PMID:25741868|PMID:25809485|PMID:25894566|PMID:26283149|PMID:26467025|PMID:28218226|PMID:28492532|PMID:28693988|PMID:28835862|PMID:29294253|PMID:31137025|PMID:31279840|PMID:32164588|PMID:33562640|PMID:36338977
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:13934	facial paralysis		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Facial palsy	PMID:19370762|PMID:25741868|PMID:28492532
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Methylmalonic aciduria	PMID:11261516|PMID:16311595|PMID:16714133|PMID:17853453|PMID:18245139|PMID:19370762|PMID:19700356|PMID:20631720|PMID:21697092|PMID:23954310|PMID:24126030|PMID:25398587|PMID:25672861|PMID:25689098|PMID:25741868|PMID:25772322|PMID:26283149|PMID:26825575|PMID:26990548|PMID:27383490|PMID:28327205|PMID:28492532|PMID:29302025|PMID:30209273|PMID:34356170|PMID:38387306|PMID:40441036
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:1657	ventricular septal defect		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:19370762|PMID:25741868|PMID:28492532
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:1826	epilepsy		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16311595|PMID:19370762|PMID:20631720|PMID:23954310|PMID:25741868|PMID:25772322|PMID:26283149|PMID:27383490|PMID:28327205|PMID:28492532|PMID:30209273
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:3070	high grade glioma		ISO	RGD:1601765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:3086	gingival overgrowth		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gingival overgrowth	PMID:19370762|PMID:25741868|PMID:28492532
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:5679	retinal disease		ISO	RGD:1601765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:16311595|PMID:19370762|PMID:20631720|PMID:21835369|PMID:23954310|PMID:25741868|PMID:26149271|PMID:27383490|PMID:28327205|PMID:28492532|PMID:30157807|PMID:31278756|PMID:35361390|PMID:36056359|PMID:38750596
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:630	genetic disease		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11261516|PMID:16311595|PMID:16714133|PMID:17853453|PMID:18245139|PMID:19370762|PMID:19700356|PMID:21697092|PMID:25398587|PMID:25672861|PMID:25689098|PMID:25741868|PMID:26825575|PMID:26990548|PMID:28492532|PMID:34356170|PMID:40441036
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism	PMID:11261516|PMID:16311595|PMID:16714133|PMID:17853453|PMID:18164228|PMID:18245139|PMID:19370762|PMID:19700356|PMID:20631720|PMID:21697092|PMID:23954310|PMID:24033266|PMID:24126030|PMID:25398587|PMID:25672861|PMID:25689098|PMID:25741868|PMID:25772322|PMID:26283149|PMID:26825575|PMID:26990548|PMID:27383490|PMID:28327205|PMID:28492532|PMID:30209273|PMID:34356170|PMID:40441036
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:83	cataract		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:19370762|PMID:25741868|PMID:28492532
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:9001575	IRIS COLOBOMA		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Iris coloboma	PMID:19370762|PMID:25741868|PMID:28492532
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:9005614	Methylmalonic Aciduria and Homocystinuria		ISO	RGD:1601765	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:19700356
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:9006178	Dysphonia		ISO	RGD:1601765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysphonia	PMID:14568819|PMID:16311595|PMID:18245139|PMID:19370762|PMID:20631720|PMID:20924684|PMID:22642810|PMID:25741868|PMID:28492532|PMID:33515116|PMID:34510336
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16311595|PMID:19370762|PMID:20631720|PMID:23954310|PMID:25741868|PMID:25772322|PMID:26283149|PMID:27383490|PMID:28327205|PMID:28492532|PMID:30209273
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1601765	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:16311595|PMID:19370762|PMID:20631720|PMID:23954310|PMID:25741868|PMID:25772322|PMID:26283149|PMID:27383490|PMID:28327205|PMID:28492532|PMID:30209273
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:9008385	Vomiting		ISO	RGD:1601765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868
8749459	Mmachc	metabolism of cobalamin associated C	gene	DOID:9263	homocystinuria		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Homocystinuria	PMID:11261516|PMID:16311595|PMID:16714133|PMID:17853453|PMID:18245139|PMID:19370762|PMID:19700356|PMID:21697092|PMID:25398587|PMID:25672861|PMID:25689098|PMID:25741868|PMID:26825575|PMID:26990548|PMID:28492532|PMID:34356170|PMID:40441036
8749467	Rpe	ribulose-5-phosphate-3-epimerase	gene	DOID:1115	sarcoma		ISO	RGD:1320609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8749467	Rpe	ribulose-5-phosphate-3-epimerase	gene	DOID:3275	thymoma		ISO	RGD:1320609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8749467	Rpe	ribulose-5-phosphate-3-epimerase	gene	DOID:4362	cervical cancer		ISO	RGD:1320609	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8749467	Rpe	ribulose-5-phosphate-3-epimerase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749467	Rpe	ribulose-5-phosphate-3-epimerase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8749467	Rpe	ribulose-5-phosphate-3-epimerase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8749467	Rpe	ribulose-5-phosphate-3-epimerase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8749480	Susd1	sushi domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8749502	Vwde	von Willebrand factor D and EGF domains	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2299987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8749502	Vwde	von Willebrand factor D and EGF domains	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2299987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8749502	Vwde	von Willebrand factor D and EGF domains	gene	DOID:0080840	optic atrophy 12		ISO	RGD:2299987	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: optic atrophy 12	PMID:25741868
8749502	Vwde	von Willebrand factor D and EGF domains	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2299987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8749502	Vwde	von Willebrand factor D and EGF domains	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:2299987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8749502	Vwde	von Willebrand factor D and EGF domains	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2299987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749502	Vwde	von Willebrand factor D and EGF domains	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2299987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8749502	Vwde	von Willebrand factor D and EGF domains	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2299987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8749502	Vwde	von Willebrand factor D and EGF domains	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2299987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8749536	Fgf14	fibroblast growth factor 14	gene	DOID:0050976	spinocerebellar ataxia 27A		ISO	RGD:1343584	D	RGD:7240710	20250604	OMIM			
8749536	Fgf14	fibroblast growth factor 14	gene	DOID:0050976	spinocerebellar ataxia 27A		ISO	RGD:1343584	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FGF14-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 27A | ClinVar Annotator: match by term: Spinocerebellar ataxia 27A | ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 | ClinVar Annotator: match by term: VESTIBULOCEREBELLAR DISORDER WITH PREDOMINANT OCULAR SIGNS	PMID:15470364|PMID:17978045|PMID:25741868|PMID:26467025|PMID:28492532
8749536	Fgf14	fibroblast growth factor 14	gene	DOID:0061137	spinocerebellar ataxia 27B		ISO	RGD:1343584	D	RGD:7240710	20230104	OMIM			
8749536	Fgf14	fibroblast growth factor 14	gene	DOID:0061137	spinocerebellar ataxia 27B		ISO	RGD:1343584	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia 27B, late-onset	PMID:15470364|PMID:25741868|PMID:26467025|PMID:28492532
8749536	Fgf14	fibroblast growth factor 14	gene	DOID:1222	cartilage disease		ISO	RGD:1343584	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11241832
8749536	Fgf14	fibroblast growth factor 14	gene	DOID:1561	cognitive disorder		ISO	RGD:1343584	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26089778
8749536	Fgf14	fibroblast growth factor 14	gene	DOID:4362	cervical cancer		ISO	RGD:1343584	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8749536	Fgf14	fibroblast growth factor 14	gene	DOID:630	genetic disease		ISO	RGD:1343584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8749548	Spata16	spermatogenesis associated 16	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8749548	Spata16	spermatogenesis associated 16	gene	DOID:0070167	spermatogenic failure 6		ISO	RGD:1351808	D	RGD:7240710	20180130	OMIM			
8749548	Spata16	spermatogenesis associated 16	gene	DOID:0070167	spermatogenic failure 6		ISO	RGD:1351808	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPATA16-related condition | ClinVar Annotator: match by term: Spermatogenic failure 6	PMID:25741868|PMID:28492532
8749548	Spata16	spermatogenesis associated 16	gene	DOID:12336	male infertility		ISO	RGD:1557391	D	RGD:9068941	20220825	MouseDO			
8749548	Spata16	spermatogenesis associated 16	gene	DOID:3275	thymoma		ISO	RGD:1351808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8749548	Spata16	spermatogenesis associated 16	gene	DOID:5041	esophageal cancer		ISO	RGD:1351808	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8749548	Spata16	spermatogenesis associated 16	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1351808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
8749548	Spata16	spermatogenesis associated 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8749548	Spata16	spermatogenesis associated 16	gene	DOID:9256	colorectal cancer		ISO	RGD:1351808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
8749563	Dazl	deleted in azoospermia like	gene	DOID:10534	stomach cancer		ISO	RGD:1352695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8749563	Dazl	deleted in azoospermia like	gene	DOID:14227	azoospermia		ISO	RGD:1352695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Azoospermia	
8749563	Dazl	deleted in azoospermia like	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1352695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23666240
8749579	Prdx3	peroxiredoxin 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8749579	Prdx3	peroxiredoxin 3	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1349610	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16081686
8749579	Prdx3	peroxiredoxin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8749579	Prdx3	peroxiredoxin 3	gene	DOID:0070413	autosomal recessive spinocerebellar ataxia 32		ISO	RGD:1349610	D	RGD:7240710	20220518	OMIM			
8749579	Prdx3	peroxiredoxin 3	gene	DOID:0070413	autosomal recessive spinocerebellar ataxia 32		ISO	RGD:1349610	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 32	PMID:25741868
8749579	Prdx3	peroxiredoxin 3	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1349610	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: therapeutic	PMID:34678374
8749579	Prdx3	peroxiredoxin 3	gene	DOID:0080600	COVID-19		ISO	RGD:1349610	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8749579	Prdx3	peroxiredoxin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1349610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8749579	Prdx3	peroxiredoxin 3	gene	DOID:10603	glucose intolerance		ISO	RGD:620040	D	RGD:9068941	20200609	RGD		associated with obesity;	PMID:27523322|REF_RGD_ID:11532750
8749579	Prdx3	peroxiredoxin 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8749579	Prdx3	peroxiredoxin 3	gene	DOID:11476	osteoporosis		ISO	RGD:1349610	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
8749579	Prdx3	peroxiredoxin 3	gene	DOID:1324	lung cancer		ISO	RGD:1349610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8749579	Prdx3	peroxiredoxin 3	gene	DOID:231	motor neuron disease		ISO	RGD:1349610	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16702190
8749579	Prdx3	peroxiredoxin 3	gene	DOID:3275	thymoma		ISO	RGD:1349610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8749579	Prdx3	peroxiredoxin 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1349610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8749579	Prdx3	peroxiredoxin 3	gene	DOID:630	genetic disease		ISO	RGD:1349610	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8749579	Prdx3	peroxiredoxin 3	gene	DOID:9000918	Disease Progression		ISO	RGD:1349610	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16081686
8749579	Prdx3	peroxiredoxin 3	gene	DOID:9003361	CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET		ISO	RGD:1349610	D	RGD:7240710	20220615	OMIM			
8749579	Prdx3	peroxiredoxin 3	gene	DOID:9003361	CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET		ISO	RGD:1349610	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET	
8749579	Prdx3	peroxiredoxin 3	gene	DOID:9007692	Insulin Resistance		ISO	RGD:620040	D	RGD:9068941	20200609	RGD		associated with obesity;	PMID:27523322|REF_RGD_ID:11532750
8749579	Prdx3	peroxiredoxin 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8749593	Ncapg	non-SMC condensin I complex subunit G	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8749593	Ncapg	non-SMC condensin I complex subunit G	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8749593	Ncapg	non-SMC condensin I complex subunit G	gene	DOID:0080600	COVID-19		ISO	RGD:1605960	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8749593	Ncapg	non-SMC condensin I complex subunit G	gene	DOID:10534	stomach cancer		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8749593	Ncapg	non-SMC condensin I complex subunit G	gene	DOID:1324	lung cancer		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8749593	Ncapg	non-SMC condensin I complex subunit G	gene	DOID:1909	melanoma		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8749593	Ncapg	non-SMC condensin I complex subunit G	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8749593	Ncapg	non-SMC condensin I complex subunit G	gene	DOID:3275	thymoma		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8749593	Ncapg	non-SMC condensin I complex subunit G	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1605960	D	RGD:9068941	20210910	CTD		CTD Direct Evidence: marker/mechanism	PMID:34419073
8749593	Ncapg	non-SMC condensin I complex subunit G	gene	DOID:4362	cervical cancer		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8749593	Ncapg	non-SMC condensin I complex subunit G	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8749593	Ncapg	non-SMC condensin I complex subunit G	gene	DOID:5041	esophageal cancer		ISO	RGD:1605960	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8749593	Ncapg	non-SMC condensin I complex subunit G	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749593	Ncapg	non-SMC condensin I complex subunit G	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8749593	Ncapg	non-SMC condensin I complex subunit G	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8749593	Ncapg	non-SMC condensin I complex subunit G	gene	DOID:9000918	Disease Progression		ISO	RGD:1605960	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:34480403
8749593	Ncapg	non-SMC condensin I complex subunit G	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1605960	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:34480403
8749621	Marchf5	membrane associated ring-CH-type finger 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8749621	Marchf5	membrane associated ring-CH-type finger 5	gene	DOID:10534	stomach cancer		ISO	RGD:1346314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8749621	Marchf5	membrane associated ring-CH-type finger 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8749621	Marchf5	membrane associated ring-CH-type finger 5	gene	DOID:3070	high grade glioma		ISO	RGD:1346314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8749621	Marchf5	membrane associated ring-CH-type finger 5	gene	DOID:3275	thymoma		ISO	RGD:1346314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8749621	Marchf5	membrane associated ring-CH-type finger 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8749621	Marchf5	membrane associated ring-CH-type finger 5	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8749621	Marchf5	membrane associated ring-CH-type finger 5	gene	DOID:4362	cervical cancer		ISO	RGD:1346314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8749621	Marchf5	membrane associated ring-CH-type finger 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749621	Marchf5	membrane associated ring-CH-type finger 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8749631	Cpne1	copine 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8749631	Cpne1	copine 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8749631	Cpne1	copine 1	gene	DOID:1115	sarcoma		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8749631	Cpne1	copine 1	gene	DOID:1909	melanoma		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8749631	Cpne1	copine 1	gene	DOID:3070	high grade glioma		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8749631	Cpne1	copine 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8749631	Cpne1	copine 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8749631	Cpne1	copine 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749631	Cpne1	copine 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8749631	Cpne1	copine 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8749631	Cpne1	copine 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8749631	Cpne1	copine 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8749671	Aqp3	aquaporin 3 (Gill blood group)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:68638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8749671	Aqp3	aquaporin 3 (Gill blood group)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8749671	Aqp3	aquaporin 3 (Gill blood group)	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8749671	Aqp3	aquaporin 3 (Gill blood group)	gene	DOID:12387	nephrogenic diabetes insipidus		ISO	RGD:68639	D	RGD:9068941	20220825	MouseDO		OMIM:125800 | OMIM:304800	
8749671	Aqp3	aquaporin 3 (Gill blood group)	gene	DOID:1459	hypothyroidism		ISO	RGD:68428	D	RGD:9068941	20200609	RGD			PMID:12595491|REF_RGD_ID:704374
8749671	Aqp3	aquaporin 3 (Gill blood group)	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:68638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21401805
8749671	Aqp3	aquaporin 3 (Gill blood group)	gene	DOID:2316	brain ischemia		ISO	RGD:68428	D	RGD:9068941	20200609	RGD			PMID:19616516|REF_RGD_ID:5490152
8749671	Aqp3	aquaporin 3 (Gill blood group)	gene	DOID:4724	brain edema		ISO	RGD:68638	D	RGD:9068941	20230727	RGD		mRNA:increased expression:neocortex,Pyramidal cells (human)	PMID:27487831|REF_RGD_ID:329969876
8749671	Aqp3	aquaporin 3 (Gill blood group)	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8749671	Aqp3	aquaporin 3 (Gill blood group)	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:68638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21401805
8749671	Aqp3	aquaporin 3 (Gill blood group)	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:68638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21401805
8749671	Aqp3	aquaporin 3 (Gill blood group)	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:68638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18214481
8749671	Aqp3	aquaporin 3 (Gill blood group)	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:68638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21401805
8749671	Aqp3	aquaporin 3 (Gill blood group)	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:68638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21401805
8749671	Aqp3	aquaporin 3 (Gill blood group)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8749681	Mtpn	myotrophin	gene	DOID:10763	hypertension		ISO	RGD:619806	D	RGD:9068941	20200609	RGD			PMID:12031792|PMID:12419325|REF_RGD_ID:1581046|REF_RGD_ID:632799
8749681	Mtpn	myotrophin	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:732852	D	RGD:9068941	20240425	MouseDO			
8749681	Mtpn	myotrophin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1603905	D	RGD:9068941	20200609	RGD			PMID:8508536|REF_RGD_ID:1581048
8749681	Mtpn	myotrophin	gene	DOID:6000	congestive heart failure		ISO	RGD:732852	D	RGD:9068941	20240425	MouseDO			
8749681	Mtpn	myotrophin	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:619806	D	RGD:9068941	20200609	RGD			PMID:10329199|REF_RGD_ID:1581047
8749681	Mtpn	myotrophin	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1603905	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8749689	Rassf3	Ras association domain family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8749689	Rassf3	Ras association domain family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8749689	Rassf3	Ras association domain family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1322918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8749689	Rassf3	Ras association domain family member 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322918	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
8749689	Rassf3	Ras association domain family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8749689	Rassf3	Ras association domain family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8749689	Rassf3	Ras association domain family member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8749697	Bccip	BRCA2 and CDKN1A interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8749697	Bccip	BRCA2 and CDKN1A interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1316516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8749697	Bccip	BRCA2 and CDKN1A interacting protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8749697	Bccip	BRCA2 and CDKN1A interacting protein	gene	DOID:3275	thymoma		ISO	RGD:1316516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8749697	Bccip	BRCA2 and CDKN1A interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1316516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8749697	Bccip	BRCA2 and CDKN1A interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1316516	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8749697	Bccip	BRCA2 and CDKN1A interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749708	B3gnt6	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6	gene	DOID:9007491	Childhood Schizophrenia		ISO	RGD:1601928	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Childhood Onset Schizophrenia	PMID:26508570
8749713	Wdr62	WD repeat domain 62	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8749713	Wdr62	WD repeat domain 62	gene	DOID:0070285	primary autosomal recessive microcephaly 1		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive	PMID:25741868
8749713	Wdr62	WD repeat domain 62	gene	DOID:0070293	primary autosomal recessive microcephaly 2 with or without cortical malformations		ISO	RGD:1315489	D	RGD:7240710	20180130	OMIM			
8749713	Wdr62	WD repeat domain 62	gene	DOID:0070293	primary autosomal recessive microcephaly 2 with or without cortical malformations		ISO	RGD:1315489	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | ClinVar Annotator: match by term: Microcephaly, cortical malformations, and intellectual disability | ClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2 | ClinVar Annotator: match by term: WDR62-related condition	PMID:10573015|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20729831|PMID:20890278|PMID:20890279|PMID:21834044|PMID:21961505|PMID:22775483|PMID:23065275|PMID:24228726|PMID:25303973|PMID:25741868|PMID:26077850|PMID:26467025|PMID:28004384|PMID:28377545|PMID:28492532|PMID:28756000|PMID:31130284|PMID:31589614|PMID:33502066|PMID:33589534|PMID:33604570|PMID:3440221|PMID:34402213|PMID:9536098
8749713	Wdr62	WD repeat domain 62	gene	DOID:0070293	primary autosomal recessive microcephaly 2 with or without cortical malformations		ISO	RGD:1315489	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | ClinVar Annotator: match by term: Microcephaly, cortical malformations, and intellectual disability | ClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations | ClinVar Annotator: match by term: WDR62-related condition	PMID:10573015|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20729831|PMID:20890278|PMID:20890279|PMID:21834044|PMID:21961505|PMID:219661505|PMID:22775483|PMID:23065275|PMID:23341463|PMID:24228726|PMID:25010007|PMID:25303973|PMID:25501809|PMID:25741868|PMID:26467025|PMID:26713495|PMID:27093186|PMID:28004384|PMID:28492532|PMID:28756000|PMID:31130284|PMID:31589614|PMID:32404165|PMID:33502066|PMID:33589534|PMID:33604570|PMID:3440221|PMID:34402213|PMID:38539105|PMID:9536098
8749713	Wdr62	WD repeat domain 62	gene	DOID:0070293	primary autosomal recessive microcephaly 2 with or without cortical malformations		ISO	RGD:1315489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS | ClinVar Annotator: match by term: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | ClinVar Annotator: match by term: Primary microcephaly type 2 | ClinVar Annotator: match by term: WDR62-related condition	PMID:10573015|PMID:17576681|PMID:18414213|PMID:20729831|PMID:20890278|PMID:20890279|PMID:21961505|PMID:219661505|PMID:22775483|PMID:23065275|PMID:23341463|PMID:24228726|PMID:25501809|PMID:25741868|PMID:26467025|PMID:26577670|PMID:26713495|PMID:28004384|PMID:28492532|PMID:31696992|PMID:32404165|PMID:3440221|PMID:34402213|PMID:35726608|PMID:9536098
8749713	Wdr62	WD repeat domain 62	gene	DOID:0070296	autosomal recessive primary microcephaly		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive primary microcephaly	PMID:20890279|PMID:21961505|PMID:25501809|PMID:25741868|PMID:34402213
8749713	Wdr62	WD repeat domain 62	gene	DOID:0080918	polymicrogyria		ISO	RGD:1315489	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868|PMID:28492532|PMID:32404165
8749713	Wdr62	WD repeat domain 62	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1315489	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:23341463
8749713	Wdr62	WD repeat domain 62	gene	DOID:10534	stomach cancer		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:26467025|PMID:28492532
8749713	Wdr62	WD repeat domain 62	gene	DOID:1059	intellectual disability		ISO	RGD:1315489	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:17576681|PMID:18414213|PMID:25741868|PMID:27784895|PMID:28492532|PMID:30167849|PMID:9536098
8749713	Wdr62	WD repeat domain 62	gene	DOID:1059	intellectual disability		ISO	RGD:1315489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual Disability | ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:17576681|PMID:25741868|PMID:27784895|PMID:28492532|PMID:30167849|PMID:32404165|PMID:9536098
8749713	Wdr62	WD repeat domain 62	gene	DOID:10907	microcephaly		ISO	RGD:1315489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16199547|PMID:18414213|PMID:20729831|PMID:25741868|PMID:28492532|PMID:32404165
8749713	Wdr62	WD repeat domain 62	gene	DOID:1115	sarcoma		ISO	RGD:1315489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8749713	Wdr62	WD repeat domain 62	gene	DOID:1324	lung cancer		ISO	RGD:1315489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8749713	Wdr62	WD repeat domain 62	gene	DOID:1826	epilepsy		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
8749713	Wdr62	WD repeat domain 62	gene	DOID:1909	melanoma		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8749713	Wdr62	WD repeat domain 62	gene	DOID:2234	focal epilepsy		ISO	RGD:1315489	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:28492532|PMID:32404165
8749713	Wdr62	WD repeat domain 62	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8749713	Wdr62	WD repeat domain 62	gene	DOID:4362	cervical cancer		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8749713	Wdr62	WD repeat domain 62	gene	DOID:5041	esophageal cancer		ISO	RGD:1315489	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8749713	Wdr62	WD repeat domain 62	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749713	Wdr62	WD repeat domain 62	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8749713	Wdr62	WD repeat domain 62	gene	DOID:630	genetic disease		ISO	RGD:1315489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8749713	Wdr62	WD repeat domain 62	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315489	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8749713	Wdr62	WD repeat domain 62	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1315489	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8749713	Wdr62	WD repeat domain 62	gene	DOID:9006821	Skraban-Deardorff Syndrome		ISO	RGD:1315489	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DISABILITY WITH SEIZURES, ABNORMAL GAIT, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Skraban-Deardorff syndrome	PMID:25741868
8749713	Wdr62	WD repeat domain 62	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8749713	Wdr62	WD repeat domain 62	gene	DOID:9007661	Dwarfism		ISO	RGD:1553526	D	RGD:9068941	20200609	RGD			PMID:24875059|REF_RGD_ID:11541053
8749713	Wdr62	WD repeat domain 62	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8749713	Wdr62	WD repeat domain 62	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:28492532
8749713	Wdr62	WD repeat domain 62	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8749748	Kcnj3	potassium inwardly rectifying channel subfamily J member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:733789	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8749748	Kcnj3	potassium inwardly rectifying channel subfamily J member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749760	Krt8	keratin 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8749760	Krt8	keratin 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8749760	Krt8	keratin 8	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:735536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
8749760	Krt8	keratin 8	gene	DOID:10534	stomach cancer		ISO	RGD:735536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8749760	Krt8	keratin 8	gene	DOID:1883	hepatitis C		ISO	RGD:735536	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hepatitis C virus, susceptibility to | ClinVar Annotator: match by term: Hepatitis c virus, susceptibility to	PMID:28492532|PMID:33116287
8749760	Krt8	keratin 8	gene	DOID:299	adenocarcinoma		ISO	RGD:735536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
8749760	Krt8	keratin 8	gene	DOID:4362	cervical cancer		ISO	RGD:735536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8749760	Krt8	keratin 8	gene	DOID:4450	renal cell carcinoma		ISO	RGD:735536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329
8749760	Krt8	keratin 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8749760	Krt8	keratin 8	gene	DOID:5082	liver cirrhosis		ISO	RGD:735536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20538000
8749760	Krt8	keratin 8	gene	DOID:5082	liver cirrhosis		ISO	RGD:735536	D	RGD:9068941	20200609	RGD			PMID:11372009|REF_RGD_ID:1600062
8749760	Krt8	keratin 8	gene	DOID:5082	liver cirrhosis		ISO	RGD:735536	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:liver (human)	PMID:15368451|REF_RGD_ID:14401583
8749760	Krt8	keratin 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749760	Krt8	keratin 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8749760	Krt8	keratin 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8749760	Krt8	keratin 8	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:735536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
8749760	Krt8	keratin 8	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980|PMID:25380136
8749760	Krt8	keratin 8	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:735536	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:liver (human)	PMID:15368451|REF_RGD_ID:14401583
8749760	Krt8	keratin 8	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:735536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20538000
8749760	Krt8	keratin 8	gene	DOID:9005167	Cryptogenic Cirrhosis		ISO	RGD:735536	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cirrhosis, cryptogenic	PMID:33116287
8749760	Krt8	keratin 8	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:735536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19409407|PMID:19796649
8749760	Krt8	keratin 8	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:735536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8749760	Krt8	keratin 8	gene	DOID:9008691	Liver Injury	susceptibility	ISO	RGD:735536	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.S73A (human gene in a mouse model)	PMID:16818723|REF_RGD_ID:14398758
8749760	Krt8	keratin 8	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:735536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20061804
8749792	Lad1	ladinin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8749792	Lad1	ladinin 1	gene	DOID:1115	sarcoma		ISO	RGD:1321680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8749792	Lad1	ladinin 1	gene	DOID:1324	lung cancer		ISO	RGD:1321680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8749792	Lad1	ladinin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321680	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8749792	Lad1	ladinin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749792	Lad1	ladinin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8749792	Lad1	ladinin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8749792	Lad1	ladinin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1607035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:0110294	autosomal recessive limb-girdle muscular dystrophy type 2T		ISO	RGD:1607035	D	RGD:7240710	20180130	OMIM			
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:0110294	autosomal recessive limb-girdle muscular dystrophy type 2T		ISO	RGD:1607035	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2T | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C14	PMID:16199547|PMID:17576681|PMID:23768512|PMID:23894383|PMID:24033266|PMID:24780531|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:28914264|PMID:29363764|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30126629|PMID:30257713|PMID:30684953|PMID:31378432|PMID:31980526|PMID:32115343|PMID:33756069|PMID:34008892|PMID:34106991|PMID:34333724|PMID:35006422|PMID:37853563|PMID:9536098
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:0111233	congenital muscular dystrophy-dystroglycanopathy type A14		ISO	RGD:1607035	D	RGD:7240710	20180130	OMIM			
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:0111233	congenital muscular dystrophy-dystroglycanopathy type A14		ISO	RGD:1607035	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14	PMID:16199547|PMID:17576681|PMID:23768512|PMID:23894383|PMID:24033266|PMID:24780531|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:28914264|PMID:29363764|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30126629|PMID:30257713|PMID:30684953|PMID:31378432|PMID:31980526|PMID:32115343|PMID:33756069|PMID:34008892|PMID:34106991|PMID:34333724|PMID:35006422|PMID:37853563|PMID:9536098
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:0112374	muscular dystrophy-dystroglycanopathy		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy	PMID:23768512|PMID:24780531|PMID:25681410|PMID:25741868|PMID:26133662|PMID:26310427|PMID:27766311|PMID:27874200|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:29437916|PMID:30257713|PMID:30684953|PMID:31980526|PMID:34008892|PMID:35006422
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:0112377	muscular dystrophy-dystroglycanopathy type B14		ISO	RGD:1607035	D	RGD:7240710	20180130	OMIM			
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:0112377	muscular dystrophy-dystroglycanopathy type B14		ISO	RGD:1607035	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	PMID:17576681|PMID:23768512|PMID:23894383|PMID:24033266|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:29363764|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30257713|PMID:32115343|PMID:34106991|PMID:34333724|PMID:35006422|PMID:9536098
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:10376	amblyopia		ISO	RGD:1607035	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:23768512|PMID:24780531|PMID:25681410|PMID:25741868|PMID:26133662|PMID:26310427|PMID:27766311|PMID:27874200|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:29437916|PMID:30257713|PMID:30684953|PMID:31980526|PMID:34008892|PMID:35006422
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:10534	stomach cancer		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:1059	intellectual disability		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:23768512|PMID:23894383|PMID:25741868|PMID:26133662|PMID:28492532|PMID:29437916|PMID:34333724
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:10907	microcephaly		ISO	RGD:1607035	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:23768512|PMID:24033266|PMID:24780531|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:29363764|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30257713|PMID:30684953|PMID:31980526|PMID:32115343|PMID:34008892|PMID:34106991|PMID:35006422
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:23768512|PMID:23894383|PMID:25741868|PMID:26133662|PMID:28492532|PMID:29437916|PMID:34333724
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:12849	autistic disorder		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:23768512|PMID:23894383|PMID:25741868|PMID:26133662|PMID:28492532|PMID:29437916|PMID:34333724
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:1826	epilepsy		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:23768512|PMID:23894383|PMID:24780531|PMID:25681410|PMID:25741868|PMID:26133662|PMID:26310427|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:29437916|PMID:30257713|PMID:30684953|PMID:31980526|PMID:34008892|PMID:34333724|PMID:35006422
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:1909	melanoma		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:423	myopathy		ISO	RGD:1607035	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:23768512|PMID:24033266|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:29363764|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30257713|PMID:32115343|PMID:34106991|PMID:35006422
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:4362	cervical cancer		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:540	strabismus		ISO	RGD:1607035	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:23768512|PMID:24033266|PMID:24780531|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:29363764|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30257713|PMID:30684953|PMID:31980526|PMID:32115343|PMID:34008892|PMID:34106991|PMID:35006422
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:630	genetic disease		ISO	RGD:1607035	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:23768512|PMID:23894383|PMID:24033266|PMID:24780531|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:29363764|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30257713|PMID:30684953|PMID:31980526|PMID:32115343|PMID:34008892|PMID:34106991|PMID:34333724|PMID:35006422|PMID:9536098
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:9001031	Retrognathia		ISO	RGD:1607035	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:23768512|PMID:24033266|PMID:24780531|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:29363764|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30257713|PMID:30684953|PMID:31980526|PMID:32115343|PMID:34008892|PMID:34106991|PMID:35006422
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:9003760	Myalgia		ISO	RGD:1607035	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:23768512|PMID:24033266|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:29363764|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30257713|PMID:32115343|PMID:34106991|PMID:35006422
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:9005077	Joint Instability		ISO	RGD:1607035	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:23768512|PMID:24033266|PMID:24780531|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:29363764|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30257713|PMID:30684953|PMID:31980526|PMID:32115343|PMID:34008892|PMID:34106991|PMID:35006422
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1607035	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle weakness | ClinVar Annotator: match by term: Progressive muscle weakness	PMID:23768512|PMID:23894383|PMID:24033266|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:29363764|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30257713|PMID:32115343|PMID:34106991|PMID:34333724|PMID:35006422
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:23768512|PMID:23894383|PMID:24780531|PMID:25681410|PMID:25741868|PMID:26133662|PMID:26310427|PMID:27766311|PMID:27874200|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:29437916|PMID:30257713|PMID:30684953|PMID:31980526|PMID:34008892|PMID:34333724|PMID:35006422
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:9007661	Dwarfism		ISO	RGD:1607035	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:23768512|PMID:24780531|PMID:25681410|PMID:25741868|PMID:26133662|PMID:26310427|PMID:27766311|PMID:27874200|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:29437916|PMID:30257713|PMID:30684953|PMID:31980526|PMID:34008892|PMID:35006422
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23768512|PMID:24780531|PMID:25681410|PMID:25741868|PMID:26133662|PMID:26310427|PMID:27766311|PMID:27874200|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:29437916|PMID:30257713|PMID:30684953|PMID:31980526|PMID:34008892|PMID:35006422
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:962	neurofibroma		ISO	RGD:1607035	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurofibroma	PMID:23768512|PMID:24033266|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:29363764|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30257713|PMID:32115343|PMID:34106991|PMID:35006422
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1607035	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:23768512|PMID:24033266|PMID:24780531|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:29363764|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30257713|PMID:30684953|PMID:31980526|PMID:32115343|PMID:34008892|PMID:34106991|PMID:35006422
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:9840	esotropia		ISO	RGD:1607035	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:23768512|PMID:24780531|PMID:25681410|PMID:25741868|PMID:26133662|PMID:26310427|PMID:27766311|PMID:27874200|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:29437916|PMID:30257713|PMID:30684953|PMID:31980526|PMID:34008892|PMID:35006422
8749806	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:9884	muscular dystrophy		ISO	RGD:1607035	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:23768512|PMID:23894383|PMID:24033266|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:29363764|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30257713|PMID:32115343|PMID:34106991|PMID:34333724|PMID:35006422
8749819	Grm7	glutamate metabotropic receptor 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8749819	Grm7	glutamate metabotropic receptor 7	gene	DOID:10534	stomach cancer		ISO	RGD:1603058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8749819	Grm7	glutamate metabotropic receptor 7	gene	DOID:10907	microcephaly		ISO	RGD:1603058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8749819	Grm7	glutamate metabotropic receptor 7	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1603058	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138692
8749819	Grm7	glutamate metabotropic receptor 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8749819	Grm7	glutamate metabotropic receptor 7	gene	DOID:1324	lung cancer		ISO	RGD:1603058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8749819	Grm7	glutamate metabotropic receptor 7	gene	DOID:1826	epilepsy		ISO	RGD:1603058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:27435318|PMID:28492532|PMID:32286009
8749819	Grm7	glutamate metabotropic receptor 7	gene	DOID:303	substance-related disorder		ISO	RGD:1603058	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8749819	Grm7	glutamate metabotropic receptor 7	gene	DOID:3275	thymoma		ISO	RGD:1603058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8749819	Grm7	glutamate metabotropic receptor 7	gene	DOID:4362	cervical cancer		ISO	RGD:1603058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8749819	Grm7	glutamate metabotropic receptor 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749819	Grm7	glutamate metabotropic receptor 7	gene	DOID:630	genetic disease		ISO	RGD:1603058	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8749819	Grm7	glutamate metabotropic receptor 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8749819	Grm7	glutamate metabotropic receptor 7	gene	DOID:9005055	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES		ISO	RGD:1603058	D	RGD:7240710	20201111	OMIM			
8749819	Grm7	glutamate metabotropic receptor 7	gene	DOID:9005055	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES		ISO	RGD:1603058	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: GRM7-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	PMID:25741868|PMID:27435318|PMID:28492532|PMID:32286009
8749819	Grm7	glutamate metabotropic receptor 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603058	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8749846	Cavin1	caveolae associated protein 1	gene	DOID:0050585	congenital generalized lipodystrophy		ISO	RGD:1317017	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Congenital generalized lipodystrophy	
8749846	Cavin1	caveolae associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8749846	Cavin1	caveolae associated protein 1	gene	DOID:0111138	congenital generalized lipodystrophy type 4		ISO	RGD:1317017	D	RGD:7240710	20180130	OMIM			
8749846	Cavin1	caveolae associated protein 1	gene	DOID:0111138	congenital generalized lipodystrophy type 4		ISO	RGD:1317017	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CAVIN1-related condition | ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 4 | ClinVar Annotator: match by term: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4	PMID:20300641|PMID:24503134|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31604776|PMID:32041611|PMID:33111339
8749846	Cavin1	caveolae associated protein 1	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1317017	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:16823967
8749846	Cavin1	caveolae associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749846	Cavin1	caveolae associated protein 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1317018	D	RGD:9068941	20220825	MouseDO		OMIM:615371	
8749846	Cavin1	caveolae associated protein 1	gene	DOID:811	lipodystrophy		ISO	RGD:1317017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lipodystrophy	PMID:25741868|PMID:28492532
8749846	Cavin1	caveolae associated protein 1	gene	DOID:9004657	Weight Gain		ISO	RGD:1317017	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8749846	Cavin1	caveolae associated protein 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1317017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insulin resistance	PMID:25741868|PMID:28492532
8749846	Cavin1	caveolae associated protein 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:1317017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:25741868|PMID:28492532
8749852	Slc35g2	solute carrier family 35 member G2	gene	DOID:1909	melanoma		ISO	RGD:1314532	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16778180
8749858	CUNH20orf141	chromosome unknown C20orf141 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749865	Ppp1r3b	protein phosphatase 1 regulatory subunit 3B	gene	DOID:0060058	lymphoma		ISO	RGD:1344962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8749865	Ppp1r3b	protein phosphatase 1 regulatory subunit 3B	gene	DOID:1115	sarcoma		ISO	RGD:1344962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8749865	Ppp1r3b	protein phosphatase 1 regulatory subunit 3B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8749865	Ppp1r3b	protein phosphatase 1 regulatory subunit 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749865	Ppp1r3b	protein phosphatase 1 regulatory subunit 3B	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1344962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8749865	Ppp1r3b	protein phosphatase 1 regulatory subunit 3B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8749865	Ppp1r3b	protein phosphatase 1 regulatory subunit 3B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:0051061	stroke	severity	ISO	RGD:619574	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:19959621|REF_RGD_ID:5508793
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:619574	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:619574	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:0060249	scoliosis		ISO	RGD:619574	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Scoliosis	
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:0080600	COVID-19		ISO	RGD:619574	D	RGD:9068941	20210625	RGD		protein:increased expression:serum (human)	PMID:33743046|REF_RGD_ID:127284892
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:0080600	COVID-19	disease_progression	ISO	RGD:619574	D	RGD:9068941	20210625	RGD		protein:increased expression:plasma (human)	PMID:32546655|REF_RGD_ID:127284882
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:0110721	neuronal ceroid lipofuscinosis 1		ISO	RGD:619574	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21224254
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:619574	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Metachromatic leukodystrophy	PMID:25741868
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:10907	microcephaly		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:12098	trigeminal neuralgia		ISO	RGD:619574	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:12217	Lewy body dementia		ISO	RGD:619574	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276553
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:12849	autistic disorder		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:1324	lung cancer		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:14330	Parkinson's disease		ISO	RGD:619574	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276553
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:1574	alcohol use disorder		ISO	RGD:2679	D	RGD:9068941	20250529	RGD		mRNA:increased expression:prefrontal cortex	PMID:32057593|REF_RGD_ID:405096486
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:1596	depressive disorder		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:1826	epilepsy		ISO	RGD:619574	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:11138011|PMID:11567214|PMID:12026242|PMID:12034785|PMID:12368989|PMID:12581808|PMID:12638020|PMID:15675360|PMID:15732097|PMID:15732098|PMID:15840648|PMID:18276609|PMID:19386454|PMID:20301351|PMID:20448479|PMID:21533827|PMID:21572052|PMID:23364391|PMID:25741868|PMID:26478912|PMID:28953922|PMID:30355500|PMID:31484723
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:2030	anxiety disorder		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:3070	high grade glioma		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:3087	gingivitis		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:619574	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11723166
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:4252	Alexander disease		ISO	RGD:619574	D	RGD:7240710	20180130	OMIM			
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:4252	Alexander disease		ISO	RGD:619574	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALEXANDER DISEASE | ClinVar Annotator: match by term: Alexander disease | ClinVar Annotator: match by term: Alexander's disease | ClinVar Annotator: match by term: GFAP-related condition	PMID:11138011|PMID:11567214|PMID:11587071|PMID:12026242|PMID:12034785|PMID:12034796|PMID:12368989|PMID:12447932|PMID:12509855|PMID:12581808|PMID:12638020|PMID:12975300|PMID:15477559|PMID:15675360|PMID:15696488|PMID:15732097|PMID:15732098|PMID:15840648|PMID:16217707|PMID:16505300|PMID:16996408|PMID:17043438|PMID:17065456|PMID:17110673|PMID:17318298|PMID:17383133|PMID:17629821|PMID:17805552|PMID:17894839|PMID:18054694|PMID:18079314|PMID:18217876|PMID:18276609|PMID:18388212|PMID:18402384|PMID:18581469|PMID:18584981|PMID:18653683|PMID:18684770|PMID:19128991|PMID:19386454|PMID:1941292|PMID:19484233|PMID:19618846|PMID:20301351|PMID:20448479|PMID:20562394|PMID:20849398|PMID:21041050|PMID:21132324|PMID:21270471|PMID:21533827|PMID:21572052|PMID:219025661|PMID:21917775|PMID:22302460|PMID:22488673|PMID:22818990|PMID:23149175|PMID:23254569|PMID:23364391|PMID:23432455|PMID:23706596|PMID:23743246|PMID:23828821|PMID:23903069|PMID:24045243|PMID:24306001|PMID:24427505|PMID:24755947|PMID:25422405|PMID:25741868|PMID:26208460|PMID:26467025|PMID:26478912|PMID:26486469|PMID:26743065|PMID:26914930|PMID:27468269|PMID:27648269|PMID:28492532|PMID:28882119|PMID:30126635|PMID:30355500|PMID:30628038|PMID:31484723|PMID:32180488|PMID:34008892|PMID:34146839|PMID:34950187|PMID:35229910
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:4724	brain edema		ISO	RGD:2679	D	RGD:9068941	20200609	RGD		associated with Embolism, Fat;protein:increased expression:brain	PMID:20111877|REF_RGD_ID:5490129
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:535	sleep disorder		ISO	RGD:619574	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:11138011|PMID:11567214|PMID:12026242|PMID:12034785|PMID:12368989|PMID:12581808|PMID:12638020|PMID:15675360|PMID:15732097|PMID:15732098|PMID:15840648|PMID:18276609|PMID:19386454|PMID:20301351|PMID:20448479|PMID:21533827|PMID:21572052|PMID:23364391|PMID:25741868|PMID:26478912|PMID:30355500|PMID:31484723
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:5679	retinal disease		ISO	RGD:2679	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:18836575|REF_RGD_ID:5490154
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:574	peripheral nervous system disease		ISO	RGD:619574	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10447555
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:630	genetic disease		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:21756903|PMID:21917775|PMID:22619055|PMID:24188966|PMID:25741868|PMID:28492532|PMID:34012265|PMID:37396762|PMID:39643430|PMID:9536098
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:7998	hyperthyroidism		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:824	periodontitis		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:83	cataract		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:863	nervous system disease		ISO	RGD:619574	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10773198|PMID:9427479|PMID:9634552
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:8869	neuromyelitis optica		ISO	RGD:619574	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18509235
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:10633	D	RGD:9068941	20200609	RGD			PMID:10225952|REF_RGD_ID:6480471
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2679	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:21250919|REF_RGD_ID:6480511
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2679	D	RGD:9068941	20210122	RGD			PMID:24968269|REF_RGD_ID:40924652
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9001036	Penetrating Head Injuries		ISO	RGD:10633	D	RGD:9068941	20200609	RGD			PMID:10225952|REF_RGD_ID:6480471
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9001131	stress-related disorder	sexual_dimorphism	ISO	RGD:2679	D	RGD:9068941	20240201	RGD			PMID:27894930|REF_RGD_ID:401959751
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:619574	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:11138011|PMID:11567214|PMID:12026242|PMID:12034785|PMID:12368989|PMID:12581808|PMID:12638020|PMID:15675360|PMID:15732097|PMID:15732098|PMID:15840648|PMID:18276609|PMID:19386454|PMID:20301351|PMID:20448479|PMID:21533827|PMID:21572052|PMID:23364391|PMID:25741868|PMID:26478912|PMID:30355500|PMID:31484723
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2679	D	RGD:9068941	20220520	RGD		associated with Schistosomiasis Japonica; mRNA:decreased expression:liver (rat)	PMID:29323718|REF_RGD_ID:38599216
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9001648	Methylenetetrahydrofolate Reductase Deficiency		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia	
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9001733	Tinnitus		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2679	D	RGD:9068941	20200609	RGD		associated with Spinal Cord Injuries;mRNA,protein:increased expression:brain,spinal cord:	PMID:16219025|REF_RGD_ID:8695957
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9002211	Hyperalgesia		ISO	RGD:619574	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9003919	Urination Disorders		ISO	RGD:2679	D	RGD:9068941	20200609	RGD		associated with spinal cord injuries	PMID:21250919|REF_RGD_ID:6480511
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9005077	Joint Instability		ISO	RGD:619574	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:11138011|PMID:11567214|PMID:12026242|PMID:12034785|PMID:12368989|PMID:12581808|PMID:12638020|PMID:15675360|PMID:15732097|PMID:15732098|PMID:15840648|PMID:18276609|PMID:19386454|PMID:20301351|PMID:20448479|PMID:21533827|PMID:21572052|PMID:23364391|PMID:25741868|PMID:26478912|PMID:30355500|PMID:31484723
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:619574	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:11138011|PMID:11567214|PMID:12026242|PMID:12034785|PMID:12368989|PMID:12581808|PMID:12638020|PMID:15675360|PMID:15732097|PMID:15732098|PMID:15840648|PMID:18276609|PMID:19386454|PMID:20301351|PMID:20448479|PMID:21533827|PMID:21572052|PMID:23364391|PMID:25741868|PMID:26478912|PMID:30355500|PMID:31484723
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9005734	Abdominal Pain		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: abdominal pain	PMID:25741868
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9006008	Closed Head Injuries		ISO	RGD:2679	D	RGD:9068941	20200609	RGD			PMID:8833197|REF_RGD_ID:6480531
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9006205	Animal Disease Models		ISO	RGD:619574	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:11138011|PMID:11567214|PMID:11587071|PMID:15732097|PMID:17043438|PMID:17065456|PMID:17383133|PMID:17894839|PMID:21041050|PMID:21533827|PMID:23432455|PMID:24427505|PMID:25741868|PMID:26486469|PMID:28492532|PMID:32180488|PMID:34146839
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9007402	Gliosis		ISO	RGD:619574	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12183020
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9007842	Sepsis-Associated Encephalopathy		ISO	RGD:2679	D	RGD:9068941	20250320	RGD		protein:decreased expression:corpus callosum	PMID:31622656|REF_RGD_ID:598092488
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9007921	Spina Bifida Cystica		ISO	RGD:619574	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8422324
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9008023	Memory Disorders		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:619574	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11138011|PMID:11567214|PMID:12026242|PMID:12034785|PMID:12368989|PMID:12581808|PMID:12638020|PMID:15675360|PMID:15732097|PMID:15732098|PMID:15840648|PMID:18276609|PMID:19386454|PMID:20301351|PMID:20448479|PMID:21533827|PMID:21572052|PMID:23364391|PMID:25741868|PMID:26478912|PMID:30355500|PMID:31484723
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9008346	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity	PMID:11138011|PMID:11567214|PMID:11587071|PMID:15732097|PMID:17043438|PMID:17065456|PMID:17383133|PMID:17894839|PMID:21041050|PMID:21533827|PMID:23432455|PMID:24427505|PMID:25741868|PMID:26486469|PMID:28492532|PMID:32180488|PMID:34146839
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9008675	Dyskinesias		ISO	RGD:619574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	
8749875	Gfap	glial fibrillary acidic protein	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:619574	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Progressive ventriculomegaly	PMID:25741868
8749915	Dync1li2	dynein cytoplasmic 1 light intermediate chain 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8749915	Dync1li2	dynein cytoplasmic 1 light intermediate chain 2	gene	DOID:10534	stomach cancer		ISO	RGD:1344148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8749915	Dync1li2	dynein cytoplasmic 1 light intermediate chain 2	gene	DOID:1115	sarcoma		ISO	RGD:1344148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8749915	Dync1li2	dynein cytoplasmic 1 light intermediate chain 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344148	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8749915	Dync1li2	dynein cytoplasmic 1 light intermediate chain 2	gene	DOID:4362	cervical cancer		ISO	RGD:1344148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8749915	Dync1li2	dynein cytoplasmic 1 light intermediate chain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749915	Dync1li2	dynein cytoplasmic 1 light intermediate chain 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8749915	Dync1li2	dynein cytoplasmic 1 light intermediate chain 2	gene	DOID:9004657	Weight Gain		ISO	RGD:1344148	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8749915	Dync1li2	dynein cytoplasmic 1 light intermediate chain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1313536	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy	PMID:25741868|PMID:28492532
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1313536	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1	PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17029773|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19389263|PMID:19495563|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23960188|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25512458|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26837502|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27017610|PMID:27037742|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27601186|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29887214|PMID:29946849|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30337059|PMID:30521064|PMID:30572730|PMID:30613976|PMID:30702970|PMID:30760869|PMID:30809968|PMID:31159747|PMID:31269945|PMID:31422574|PMID:31433215|PMID:31742824|PMID:31992580|PMID:32068069|PMID:32661327|PMID:32773772|PMID:33120919|PMID:33471991|PMID:35089076|PMID:35535697|PMID:7628019|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1313536	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17029773|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19389263|PMID:19495563|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21376568|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23960188|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25512458|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26837502|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27017610|PMID:27037742|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27589204|PMID:27601186|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29887214|PMID:29946849|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30337059|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30702970|PMID:30760869|PMID:30809968|PMID:31159747|PMID:31269945|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31742824|PMID:31992580|PMID:32068069|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:33120919|PMID:33259954|PMID:33471991|PMID:33693762|PMID:34271781|PMID:35089076|PMID:35402282|PMID:35535697|PMID:36073783|PMID:7628019|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1313536	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17029773|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19389263|PMID:19495563|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21376568|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23960188|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25512458|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26837502|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27017610|PMID:27037742|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27589204|PMID:27601186|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28286799|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:29596542|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29887214|PMID:29946849|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30337059|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30680046|PMID:30702970|PMID:30760869|PMID:30809968|PMID:31054147|PMID:31159747|PMID:31269945|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31491536|PMID:31589614|PMID:31742824|PMID:31830689|PMID:31916644|PMID:31948886|PMID:31992580|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32459922|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32794040|PMID:32914570|PMID:32980694|PMID:33120919|PMID:33259954|PMID:33359728|PMID:33442023|PMID:33453991|PMID:33471991|PMID:33510387|PMID:33535600|PMID:33693762|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34489406|PMID:34680242|PMID:34897210|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35441217|PMID:35449176|PMID:35535697|PMID:36073783|PMID:36134613|PMID:36243179|PMID:36360190|PMID:36586540|PMID:36647049|PMID:36715493|PMID:36790526|PMID:36824550|PMID:36988593|PMID:37262391|PMID:37296477|PMID:37509324|PMID:37534630|PMID:37536918|PMID:37673932|PMID:38284451|PMID:38851388|PMID:38898688|PMID:39004446|PMID:7628019|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1313536	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17029773|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19389263|PMID:19495563|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21376568|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23960188|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25512458|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26837502|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27017610|PMID:27037742|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27589204|PMID:27601186|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:29596542|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29887214|PMID:29946849|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30337059|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30680046|PMID:30702970|PMID:30760869|PMID:30809968|PMID:31054147|PMID:31159747|PMID:31269945|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31491536|PMID:31589614|PMID:31742824|PMID:31830689|PMID:31916644|PMID:31948886|PMID:31992580|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32459922|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32794040|PMID:32914570|PMID:32980694|PMID:33120919|PMID:33259954|PMID:33359728|PMID:33442023|PMID:33453991|PMID:33471991|PMID:33510387|PMID:33535600|PMID:33693762|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34489406|PMID:34680242|PMID:34897210|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35441217|PMID:35449176|PMID:35535697|PMID:36073783|PMID:36134613|PMID:36243179|PMID:36360190|PMID:36586540|PMID:36647049|PMID:36715493|PMID:36790526|PMID:36824550|PMID:36988593|PMID:37262391|PMID:37296477|PMID:37509324|PMID:37534630|PMID:37536918|PMID:37673932|PMID:38284451|PMID:38851388|PMID:38898688|PMID:39004446|PMID:7628019|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1313536	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17029773|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19389263|PMID:19495563|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21376568|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23960188|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25512458|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26837502|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27017610|PMID:27037742|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27589204|PMID:27601186|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:29596542|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29887214|PMID:29946849|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30337059|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30680046|PMID:30702970|PMID:30760869|PMID:30809968|PMID:31054147|PMID:31159747|PMID:31269945|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31491536|PMID:31589614|PMID:31742824|PMID:31830689|PMID:31916644|PMID:31948886|PMID:31992580|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32459922|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32794040|PMID:32914570|PMID:32980694|PMID:33120919|PMID:33259954|PMID:33359728|PMID:33442023|PMID:33453991|PMID:33471991|PMID:33510387|PMID:33535600|PMID:33693762|PMID:33939675|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34489406|PMID:34680242|PMID:34897210|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35441217|PMID:35449176|PMID:35535697|PMID:36073783|PMID:36134613|PMID:36243179|PMID:36360190|PMID:36409970|PMID:36586540|PMID:36647049|PMID:36715493|PMID:36790526|PMID:36824550|PMID:36988593|PMID:37262391|PMID:37296477|PMID:37509324|PMID:37534630|PMID:37536918|PMID:37673932|PMID:37791908|PMID:38284451|PMID:38851388|PMID:38898688|PMID:39004446|PMID:7628019|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:16472587|PMID:16619239|PMID:19039682|PMID:19132747|PMID:19723918|PMID:20051945|PMID:20205264|PMID:21376568|PMID:22703879|PMID:23960188|PMID:24027009|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24728327|PMID:24790682|PMID:25117502|PMID:25691505|PMID:25741868|PMID:25964535|PMID:26247049|PMID:26272126|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26898890|PMID:27435373|PMID:27589204|PMID:27930734|PMID:28492532|PMID:28765196|PMID:29345684|PMID:29596542|PMID:29659569|PMID:29665853|PMID:29887214|PMID:30256826|PMID:30322717|PMID:30337059|PMID:30521064|PMID:30608896|PMID:31269945|PMID:31391288|PMID:31589614|PMID:31742824|PMID:31830689|PMID:31916644|PMID:32068069|PMID:32459922|PMID:32661327|PMID:32794040|PMID:32980694|PMID:33471991|PMID:33535600|PMID:34326862|PMID:34489406|PMID:34897210|PMID:35449176|PMID:36073783|PMID:36243179|PMID:36451132|PMID:36586540|PMID:36647049|PMID:36715493|PMID:36988593|PMID:37864171|PMID:38552658|PMID:39334433
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0070272	hereditary nonpolyposis colorectal cancer type 5		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 5	PMID:17016615|PMID:20186688|PMID:22290698|PMID:25741868|PMID:25980754|PMID:26232782|PMID:26467025|PMID:27601186|PMID:27930734|PMID:28492532|PMID:31391288|PMID:31433215|PMID:32720237|PMID:35306340|PMID:37937776|PMID:38851388|PMID:39334433
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0070275	hereditary nonpolyposis colorectal cancer type 4		ISO	RGD:1313536	D	RGD:7240710	20180130	OMIM			
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0070275	hereditary nonpolyposis colorectal cancer type 4		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 4 | ClinVar Annotator: match by term: LYNCH SYNDROME 4 | ClinVar Annotator: match by term: Lynch syndrome 4	PMID:10037723|PMID:10763829|PMID:11574484|PMID:12697830|PMID:15608192|PMID:15887099|PMID:16187360|PMID:16199547|PMID:16338176|PMID:16472587|PMID:16507833|PMID:17016615|PMID:17417778|PMID:17576681|PMID:18178629|PMID:18273873|PMID:18310077|PMID:18602922|PMID:18619468|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19479271|PMID:19723918|PMID:1992580|PMID:20051945|PMID:20186688|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20698049|PMID:21261604|PMID:21376568|PMID:21520333|PMID:22290698|PMID:22295133|PMID:22577899|PMID:22848017|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23709753|PMID:23837913|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24113346|PMID:24351291|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24728327|PMID:24763289|PMID:24790682|PMID:25006859|PMID:25186627|PMID:25274553|PMID:25318351|PMID:25430799|PMID:25503501|PMID:25512458|PMID:25637381|PMID:25691505|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26467025|PMID:26544533|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26976419|PMID:27064304|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27589204|PMID:27601186|PMID:27720647|PMID:27742654|PMID:27820123|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28007021|PMID:28051113|PMID:2813514|PMID:28135145|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28640387|PMID:28668860|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28912153|PMID:28975465|PMID:29212164|PMID:29333623|PMID:29345684|PMID:29356034|PMID:29368341|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29665853|PMID:29684080|PMID:29750335|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29905759|PMID:29945567|PMID:29967336|PMID:30013564|PMID:30093976|PMID:30161022|PMID:30166348|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30376427|PMID:30389464|PMID:30478739|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30740824|PMID:30764633|PMID:31101557|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31332305|PMID:31346352|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31433215|PMID:31486992|PMID:31589614|PMID:31742824|PMID:31780696|PMID:31830689|PMID:31874108|PMID:31992580|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32268276|PMID:32283892|PMID:32459922|PMID:32547938|PMID:32642664|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32720237|PMID:32761968|PMID:32794040|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32980694|PMID:33193653|PMID:33471991|PMID:33535600|PMID:33646313|PMID:33693762|PMID:33821390|PMID:34172528|PMID:34250417|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34371384|PMID:34482403|PMID:34489406|PMID:34646395|PMID:34761457|PMID:34793666|PMID:34897210|PMID:35101336|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35306340|PMID:35402282|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35532657|PMID:35886069|PMID:35988656|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36451132|PMID:36586540|PMID:36647049|PMID:36715493|PMID:36717774|PMID:36988593|PMID:37231433|PMID:37864171|PMID:37937776|PMID:38311346|PMID:38358347|PMID:38509102|PMID:38552658|PMID:38734621|PMID:38773787|PMID:38851388|PMID:38925456|PMID:38981878|PMID:39334433|PMID:9536098
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:1313536	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:23435383|PMID:25741868|PMID:28492532|PMID:35451539
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11		ISO	RGD:1313536	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11	PMID:23435383|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:36315513
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0111522	autosomal recessive progressive external ophthalmoplegia 1		ISO	RGD:1313536	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	PMID:10199405|PMID:11574484|PMID:25326637|PMID:25741868|PMID:25980754|PMID:26249686|PMID:28492532|PMID:30653781
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0112182	mismatch repair cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Constitutional mismatch repair deficiency syndrome | ClinVar Annotator: match by term: Turcot syndrome	PMID:10037723|PMID:11574484|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15955779|PMID:16144131|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17557300|PMID:17576681|PMID:18007577|PMID:18273873|PMID:18602922|PMID:18824584|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19495563|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21618646|PMID:22081473|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22658618|PMID:22703879|PMID:22848017|PMID:22918162|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24326041|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26845104|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27356891|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27535533|PMID:27589204|PMID:27601186|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28218421|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28724667|PMID:28726808|PMID:28805995|PMID:28873162|PMID:28874130|PMID:29489754|PMID:29570743|PMID:29625052|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30077346|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30447919|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30680046|PMID:30702970|PMID:30760869|PMID:30764633|PMID:30787465|PMID:31056861|PMID:31159747|PMID:31327751|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31507588|PMID:31589614|PMID:31599855|PMID:31857677|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32885271|PMID:33087929|PMID:33120919|PMID:33258288|PMID:33259954|PMID:33471991|PMID:33504652|PMID:33693762|PMID:34048176|PMID:34271781|PMID:34285288|PMID:34371384|PMID:35089076|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35475445|PMID:35535697|PMID:35886069|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0112182	mismatch repair cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Constitutional mismatch repair deficiency syndrome | ClinVar Annotator: match by term: Turcot syndrome	PMID:10037723|PMID:11574484|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15955779|PMID:16144131|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17557300|PMID:17576681|PMID:18007577|PMID:18273873|PMID:18602922|PMID:18824584|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19495563|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21618646|PMID:22081473|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22658618|PMID:22703879|PMID:22848017|PMID:22918162|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24326041|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26845104|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27356891|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27535533|PMID:27589204|PMID:27601186|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28218421|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28724667|PMID:28726808|PMID:28805995|PMID:28873162|PMID:28874130|PMID:29489754|PMID:29570743|PMID:29625052|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30077346|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30447919|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30680046|PMID:30702970|PMID:30760869|PMID:30764633|PMID:30787465|PMID:31056861|PMID:31159747|PMID:31327751|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31507588|PMID:31589614|PMID:31599855|PMID:31857677|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32885271|PMID:33087929|PMID:33120919|PMID:33258288|PMID:33259954|PMID:33471991|PMID:33504652|PMID:33693762|PMID:34048176|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35089076|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35886069|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0112182	mismatch repair cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Constitutional mismatch repair deficiency syndrome | ClinVar Annotator: match by term: MMR DEFICIENCY | ClinVar Annotator: match by term: Turcot syndrome	PMID:17016615|PMID:17576681|PMID:20186688|PMID:21261604|PMID:21376568|PMID:22290698|PMID:22848017|PMID:23012243|PMID:24362816|PMID:24689082|PMID:25186627|PMID:25512458|PMID:25741868|PMID:25856668|PMID:25980754|PMID:26110232|PMID:26232782|PMID:26247049|PMID:26467025|PMID:26681312|PMID:27435373|PMID:27601186|PMID:27930734|PMID:28007021|PMID:28135145|PMID:28492532|PMID:28514183|PMID:29684080|PMID:29967336|PMID:30013564|PMID:30256826|PMID:31332305|PMID:31391288|PMID:31433215|PMID:31992580|PMID:32720237|PMID:33471991|PMID:34326862|PMID:35223509|PMID:35306340|PMID:35532657|PMID:35886069|PMID:36790526|PMID:36988593|PMID:37937776|PMID:38311346|PMID:38851388|PMID:39334433|PMID:9536098
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1313536	D	RGD:9068941	20200609	RGD			PMID:19124481|REF_RGD_ID:2315026
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:10534	stomach cancer		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:16199547|PMID:1992580|PMID:21261604|PMID:21376568|PMID:23709753|PMID:24033266|PMID:24362816|PMID:24440087|PMID:25741868|PMID:25856668|PMID:26110232|PMID:26247049|PMID:26467025|PMID:27589204|PMID:28449805|PMID:28492532|PMID:28514183|PMID:28640387|PMID:30256826|PMID:31101557|PMID:31589614|PMID:31992580|PMID:32794040|PMID:35532657|PMID:36647049|PMID:36988593
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:11054	urinary bladder cancer	susceptibility	ISO	RGD:1313536	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs6463524 (human)	PMID:19692168|REF_RGD_ID:2315025
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:11111	hydronephrosis		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:21376568|PMID:22848017|PMID:23012243|PMID:24362816|PMID:24689082|PMID:25512458|PMID:25741868|PMID:26110232|PMID:26467025|PMID:26681312|PMID:27435373|PMID:28492532|PMID:28514183|PMID:29967336|PMID:31992580|PMID:35223509
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1115	sarcoma		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:11830	myopia		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:26689913|PMID:28492532|PMID:31386297
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:12849	autistic disorder		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:16199547|PMID:1992580|PMID:21376568|PMID:23709753|PMID:24033266|PMID:24362816|PMID:24440087|PMID:25741868|PMID:26247049|PMID:28449805|PMID:28492532|PMID:28640387|PMID:31101557|PMID:31992580|PMID:36988593
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1324	lung cancer		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:23709753|PMID:25741868|PMID:26110232|PMID:26247049|PMID:26467025|PMID:28492532|PMID:28873162|PMID:30306255|PMID:31992580|PMID:33693762|PMID:34308366
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:12697830|PMID:21376568|PMID:24362816|PMID:25741868|PMID:26681312|PMID:28492532|PMID:29596542|PMID:30013564|PMID:30337059|PMID:30389464|PMID:31992580|PMID:35101336
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1520	colon carcinoma		ISO	RGD:1313536	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:10037723|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12900794|PMID:15470502|PMID:16338176|PMID:16472587|PMID:16619239|PMID:17016615|PMID:17557300|PMID:17576681|PMID:18602922|PMID:18768816|PMID:19132747|PMID:19389263|PMID:20186688|PMID:20205264|PMID:20533529|PMID:21239990|PMID:21376568|PMID:21618646|PMID:22290698|PMID:22608206|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23709753|PMID:2402700|PMID:24027009|PMID:24362816|PMID:24728327|PMID:25194673|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25741868|PMID:25856668|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26333163|PMID:26467025|PMID:26689913|PMID:26845104|PMID:26976419|PMID:27082517|PMID:27376475|PMID:27435373|PMID:27930734|PMID:28135145|PMID:28166811|PMID:28218421|PMID:28466842|PMID:28492532|PMID:28502729|PMID:28514183|PMID:285143|PMID:29300386|PMID:29345684|PMID:29478780|PMID:29684080|PMID:30103829|PMID:30374176|PMID:30764633|PMID:31159747|PMID:31336956|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31512090|PMID:31650731|PMID:31857677|PMID:31992580|PMID:32547938|PMID:32658311|PMID:32832836|PMID:33471991|PMID:34994648|PMID:35223509|PMID:35263119|PMID:35449176|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1520	colon carcinoma		ISO	RGD:1313536	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma	PMID:10037723|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12900794|PMID:15470502|PMID:16338176|PMID:16472587|PMID:16619239|PMID:17016615|PMID:17557300|PMID:17576681|PMID:18602922|PMID:18768816|PMID:19132747|PMID:19389263|PMID:20186688|PMID:20205264|PMID:20533529|PMID:21239990|PMID:21376568|PMID:21618646|PMID:22290698|PMID:22608206|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23709753|PMID:2402700|PMID:24027009|PMID:24362816|PMID:24728327|PMID:25194673|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25741868|PMID:25856668|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26333163|PMID:26467025|PMID:26689913|PMID:26845104|PMID:26976419|PMID:27082517|PMID:27376475|PMID:27435373|PMID:27930734|PMID:28135145|PMID:28166811|PMID:28218421|PMID:28466842|PMID:28492532|PMID:28502729|PMID:28514183|PMID:285143|PMID:29300386|PMID:29345684|PMID:29478780|PMID:29684080|PMID:30103829|PMID:30374176|PMID:30764633|PMID:31159747|PMID:31336956|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31512090|PMID:31650731|PMID:31857677|PMID:31992580|PMID:32547938|PMID:32658311|PMID:32832836|PMID:33471991|PMID:34326862|PMID:34994648|PMID:35223509|PMID:35263119|PMID:35449176|PMID:37296477|PMID:38552658|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1520	colon carcinoma		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon	PMID:10037723|PMID:16338176|PMID:20533529|PMID:21376568|PMID:24362816|PMID:25741868|PMID:26110232|PMID:26116798|PMID:28492532|PMID:30764633
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1612	breast cancer		ISO	RGD:1313536	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30651582|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31784482|PMID:31992580|PMID:32039725|PMID:32133419|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1612	breast cancer		ISO	RGD:1313536	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30651582|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31784482|PMID:31992580|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1612	breast cancer		ISO	RGD:1313536	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30651582|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31784482|PMID:31992580|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1612	breast cancer		ISO	RGD:1313536	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35189042
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1612	breast cancer		ISO	RGD:1313536	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:17576681|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34250417|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35189042|PMID:9536098
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1612	breast cancer		ISO	RGD:1313536	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:17576681|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34250417|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35189042|PMID:36988593|PMID:9536098
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1612	breast cancer		ISO	RGD:1313536	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:17576681|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26416026|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28617965|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29597095|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34250417|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35189042|PMID:35449176|PMID:36988593|PMID:9536098
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1612	breast cancer		ISO	RGD:1313536	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:17576681|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31297337|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34250417|PMID:34284872|PMID:34285288|PMID:34359559|PMID:34371384|PMID:35189042|PMID:35449176|PMID:36988593|PMID:9536098
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1612	breast cancer		ISO	RGD:1313536	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:17576681|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29625052|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31297337|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32694065|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34162944|PMID:34250417|PMID:34284872|PMID:34285288|PMID:34326862|PMID:34359559|PMID:34371384|PMID:35189042|PMID:35273153|PMID:35449176|PMID:36243179|PMID:36988593|PMID:37937776|PMID:38136308|PMID:9536098
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1612	breast cancer		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:15256438|PMID:15872200|PMID:16472587|PMID:16619239|PMID:18602922|PMID:20186688|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22081473|PMID:22658618|PMID:23012243|PMID:23960188|PMID:24027009|PMID:24351291|PMID:24362816|PMID:25741868|PMID:25964535|PMID:26110232|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26845104|PMID:27435373|PMID:27601186|PMID:28381238|PMID:28492532|PMID:28765196|PMID:28874130|PMID:29659569|PMID:29887214|PMID:30077346|PMID:30256826|PMID:30337059|PMID:30702970|PMID:31741177|PMID:31883735|PMID:31916644|PMID:31942411|PMID:31992580|PMID:32369273|PMID:32885271|PMID:35449176|PMID:36169650|PMID:36644715
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1657	ventricular septal defect		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:21376568|PMID:22848017|PMID:23012243|PMID:24362816|PMID:24689082|PMID:25512458|PMID:25741868|PMID:26110232|PMID:26467025|PMID:26681312|PMID:27435373|PMID:28492532|PMID:28514183|PMID:29967336|PMID:31992580|PMID:35223509
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:21376568|PMID:22848017|PMID:23012243|PMID:24362816|PMID:24689082|PMID:25512458|PMID:25741868|PMID:26110232|PMID:26467025|PMID:26681312|PMID:27435373|PMID:28492532|PMID:28514183|PMID:29967336|PMID:31992580|PMID:35223509
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:2152	ovary epithelial cancer		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epithelial ovarian cancer	PMID:25741868
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:219	colon cancer		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:17576681|PMID:21376568|PMID:24362816|PMID:25741868|PMID:28492532|PMID:29752822|PMID:30376427|PMID:31297337|PMID:35273153|PMID:9536098
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:2394	ovarian cancer		ISO	RGD:1313536	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inherited ovarian cancer (without breast cancer) | ClinVar Annotator: match by term: Ovarian cancer	PMID:10479499|PMID:10480359|PMID:15077197|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:22086678|PMID:22290698|PMID:22703879|PMID:24027009|PMID:24072394|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25479140|PMID:25503501|PMID:25741868|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26798439|PMID:26845104|PMID:26900293|PMID:27028851|PMID:27356891|PMID:27435373|PMID:27601186|PMID:27616075|PMID:27720647|PMID:27930734|PMID:28135145|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28528518|PMID:28874130|PMID:29570743|PMID:29684080|PMID:30093976|PMID:30122538|PMID:30166348|PMID:30521064|PMID:31269945|PMID:31391288|PMID:31742824|PMID:31830689|PMID:31921681|PMID:32068069|PMID:32566746|PMID:32661327|PMID:32832836|PMID:32914570|PMID:32980694|PMID:33413596|PMID:33471991|PMID:33850299|PMID:34172528|PMID:34350294|PMID:34567566|PMID:34897210|PMID:35171259|PMID:35449176|PMID:36200007|PMID:36243179|PMID:37534630|PMID:38509102
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:2394	ovarian cancer		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer | ClinVar Annotator: match by term: ovarian cancer	PMID:10479499|PMID:10480359|PMID:15077197|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:22086678|PMID:22290698|PMID:22703879|PMID:24027009|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25479140|PMID:25503501|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27028851|PMID:27435373|PMID:27601186|PMID:27616075|PMID:27720647|PMID:27930734|PMID:28466842|PMID:28492532|PMID:28874130|PMID:29570743|PMID:29684080|PMID:29905759|PMID:30093976|PMID:30166348|PMID:30521064|PMID:31269945|PMID:31391288|PMID:31742824|PMID:32068069|PMID:32661327|PMID:32914570|PMID:32980694|PMID:33471991|PMID:34350294|PMID:34897210|PMID:35449176|PMID:36243179|PMID:38358347|PMID:38509102|PMID:38734621|PMID:38981878
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:2394	ovarian cancer		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:24728327|PMID:25503501|PMID:25741868|PMID:26467025|PMID:27720647|PMID:28492532|PMID:29570743|PMID:29684080|PMID:29905759|PMID:30093976|PMID:30166348|PMID:30521064|PMID:31269945|PMID:31391288|PMID:31742824|PMID:32068069|PMID:32661327|PMID:32914570|PMID:32980694|PMID:33471991|PMID:34350294|PMID:34897210|PMID:35449176|PMID:36243179|PMID:38358347|PMID:38509102|PMID:38734621|PMID:38981878
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1313536	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2228006 (human)	PMID:18723338|REF_RGD_ID:2315028
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:16199547|PMID:18273873|PMID:18602922|PMID:19479271|PMID:20531397|PMID:21376568|PMID:22577899|PMID:23012243|PMID:23709753|PMID:24027009|PMID:24033266|PMID:24362816|PMID:24440087|PMID:24728327|PMID:25006859|PMID:25186627|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26110232|PMID:26467025|PMID:26689913|PMID:26866578|PMID:28492532|PMID:28873162|PMID:28912153|PMID:28975465|PMID:29333623|PMID:29345684|PMID:29785153|PMID:30651582|PMID:30653781|PMID:31159747|PMID:31300551|PMID:31391288|PMID:31992580|PMID:32547938|PMID:34326862|PMID:35988656
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3087	gingivitis		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:1313536	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:19293170
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3275	thymoma		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3459	breast carcinoma		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:16199547|PMID:21376568|PMID:24362816|PMID:25741868|PMID:28492532|PMID:34326862
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11897781|PMID:12208142|PMID:12714694|PMID:12851690|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:20961292|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22406018|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22941189|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24323032|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27854218|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29286535|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31101557|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32295625|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34178123|PMID:34284872|PMID:34371384|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22406018|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22941189|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24323032|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31101557|PMID:31102422|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32295625|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32628757|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34115236|PMID:34178123|PMID:34284872|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35535697|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31101557|PMID:31102422|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32295625|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32628757|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34284872|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35535697|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22406018|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24323032|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27854218|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:34465341|PMID:34667028|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:35734982|PMID:36091175|PMID:36647049|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:34465341|PMID:34667028|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22406018|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:34465341|PMID:34667028|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:34465341|PMID:34646395|PMID:34667028|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:187425|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26416026|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28617965|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:29597095|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34820595|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:35982947|PMID:36011273|PMID:36091175|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:36931573|PMID:36988593|PMID:37536918|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:187425|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34820595|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:35982947|PMID:36011273|PMID:36091175|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:36931573|PMID:36988593|PMID:36999887|PMID:37536918|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28166811|PMID:28195393|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34964038|PMID:34994648|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35739278|PMID:35886069|PMID:35939113|PMID:35982947|PMID:36011273|PMID:36091175|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:36356413|PMID:36360190|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36931573|PMID:36988593|PMID:36999887|PMID:37296477|PMID:37536918|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:187425|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31248605|PMID:31269945|PMID:31297337|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34964038|PMID:34994648|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35532657|PMID:35535697|PMID:35734982|PMID:35739278|PMID:35886069|PMID:35939113|PMID:35982947|PMID:36011273|PMID:36091175
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36931573|PMID:36988593|PMID:36999887|PMID:37296477|PMID:37536918|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31042466|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31248605|PMID:31269945|PMID:31297337|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34964038|PMID:34994648|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35532657|PMID:35535697|PMID:35734982|PMID:35739278|PMID:35886069|PMID:35939113|PMID:35982947|PMID:36011273
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:36091175|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36931573|PMID:36988593|PMID:36999887|PMID:37296477|PMID:37536918|PMID:37673932|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:36091175|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36743879|PMID:36931573|PMID:36988593|PMID:36999887|PMID:37296477|PMID:37534630|PMID:37536918|PMID:37673932|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:187425|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25677497|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31248605|PMID:31269945|PMID:31297337|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34964038|PMID:34994648|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35532657|PMID:35535697|PMID:35734982|PMID:35739278|PMID:35886069|PMID:35939113|PMID:35982947|PMID:36011273
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:28166811|PMID:28195393|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31248605|PMID:31269945|PMID:31297337|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34964038|PMID:34994648|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35532657|PMID:35535697|PMID:35734982|PMID:35739278|PMID:35886069|PMID:35939113|PMID:35982947|PMID:36011273
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:187425|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25786579|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31248605|PMID:31269945|PMID:31297337|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34964038|PMID:34994648|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35532657|PMID:35535697|PMID:35734982|PMID:35739278|PMID:35886069|PMID:35939113
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:35982947|PMID:36011273|PMID:36091175|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36743879|PMID:36931573|PMID:36988593|PMID:36999887|PMID:37296477|PMID:37534630|PMID:37536918|PMID:37673932|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:28166811|PMID:28195393|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31248605|PMID:31269945|PMID:31297337|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32876971|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34897210|PMID:34964038|PMID:34994648|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35441217|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35532657|PMID:35535697|PMID:35734982
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:35739278|PMID:35886069|PMID:35939113|PMID:35982947|PMID:35988656|PMID:36011273|PMID:36091175|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36743879|PMID:36790526|PMID:36931573|PMID:36988593|PMID:36999887|PMID:37296477|PMID:37534630|PMID:37536918|PMID:37673932|PMID:38552658|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:187425|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:2689598|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31248605|PMID:31269945|PMID:31297337|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32510614|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32876971|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34897210|PMID:34964038|PMID:34994648|PMID:35002543|PMID:3501477|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35441217|PMID:35449176|PMID:35451539
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:35451682|PMID:35475445|PMID:35532657|PMID:35535697|PMID:35734982|PMID:35886069|PMID:35939113|PMID:35982947|PMID:35988656|PMID:36011273|PMID:36091175|PMID:36091691|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36743879|PMID:36790526|PMID:36931573|PMID:36988593|PMID:36999887|PMID:37296477|PMID:37308967|PMID:37534630|PMID:37536918|PMID:37673932|PMID:38311346|PMID:38313678|PMID:38552658|PMID:38654521|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:862267|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:187425|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:2689598|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28166811|PMID:28195393|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29895855|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30246500|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30850667|PMID:30877237|PMID:31019026|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31248605|PMID:31269945|PMID:31297337|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31761620|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32191290|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32359129|PMID:32369273|PMID:32459922|PMID:32510614|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32794040|PMID:32809219|PMID:32827758|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32876971|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33442023|PMID:33453991|PMID:33471991|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34162944|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34645491|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34687117|PMID:34707284|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34897210|PMID:34964038|PMID:34994648|PMID:35002543|PMID:3501477|PMID:35089076
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:35098669|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35441217|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35532657|PMID:35534704|PMID:35535697|PMID:35651417|PMID:35734982|PMID:35884425|PMID:35886069|PMID:35904628|PMID:35939113|PMID:35982947|PMID:35988656|PMID:36010253|PMID:36011273|PMID:36091175|PMID:36091691|PMID:36134613|PMID:36165864|PMID:36169650|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36644715|PMID:36647049|PMID:36715493|PMID:36743879|PMID:36790526|PMID:36824550|PMID:36896836|PMID:36931573|PMID:36988593|PMID:36999887|PMID:37231433|PMID:37239058|PMID:37262391|PMID:37296477|PMID:37308967|PMID:37453563|PMID:37509324|PMID:37534630|PMID:37536918|PMID:37673932|PMID:37704212|PMID:37937776|PMID:37965459|PMID:38136308|PMID:38284451|PMID:38311346|PMID:38313678|PMID:38344144|PMID:38552658|PMID:38567167|PMID:38654521|PMID:38773787|PMID:38851388|PMID:38898688|PMID:39004446|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:862267|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:187425|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:2689598|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:28195393|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29895855|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30246500|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30850667|PMID:30877237|PMID:31019026|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31248605|PMID:31269945|PMID:31297337|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31761620|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31916644|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32191290|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32359129|PMID:32369273|PMID:32459922|PMID:32510614|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32794040|PMID:32809219|PMID:32827758|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32876971|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33442023|PMID:33453991|PMID:33471991|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34162944|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34645491|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34687117|PMID:34707284|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34897210|PMID:34964038|PMID:34994648|PMID:35002543|PMID:3501477
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:35089076|PMID:35098669|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35441217|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35532657|PMID:35534704|PMID:35535697|PMID:35651417|PMID:35734982|PMID:35884425|PMID:35886069|PMID:35904628|PMID:35939113|PMID:35982947|PMID:35988656|PMID:36010253|PMID:36011273|PMID:36091175|PMID:36091691|PMID:36134613|PMID:36165864|PMID:36169650|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36644715|PMID:36647049|PMID:36715493|PMID:36743879|PMID:36790526|PMID:36824550|PMID:36896836|PMID:36931573|PMID:36988593|PMID:36999887|PMID:37231433|PMID:37239058|PMID:37262391|PMID:37296477|PMID:37308967|PMID:37453563|PMID:37509324|PMID:37534630|PMID:37536918|PMID:37673932|PMID:37704212|PMID:37937776|PMID:37965459|PMID:38136308|PMID:38284451|PMID:38311346|PMID:38313678|PMID:38344144|PMID:38552658|PMID:38566764|PMID:38567167|PMID:38654521|PMID:38773787|PMID:38851388|PMID:38898688|PMID:39004446|PMID:39334433|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:862267|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:187425|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:2689598|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:2813514|PMID:28135145|PMID:28152038
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29895855|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30246500|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30850667|PMID:30877237|PMID:31019026|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31248605|PMID:31269945|PMID:31297337|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31346352|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31761620|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31916644|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32191290|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32359129|PMID:32369273|PMID:32459922|PMID:32510614|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32794040|PMID:32809219|PMID:32827758|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32876971|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33442023|PMID:33453991|PMID:33471991|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34162944|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34645491|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34687117|PMID:34707284|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34897210|PMID:34964038|PMID:34994648|PMID:35002543
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:3501477|PMID:35089076|PMID:35098669|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35441217|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35532657|PMID:35534704|PMID:35535697|PMID:35651417|PMID:35734982|PMID:35884425|PMID:35886069|PMID:35904628|PMID:35939113|PMID:35982947|PMID:35988656|PMID:36010253|PMID:36011273|PMID:36091175|PMID:36091691|PMID:36134613|PMID:36165864|PMID:36169650|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36644715|PMID:36647049|PMID:36715493|PMID:36743879|PMID:36790526|PMID:36824550|PMID:36896836|PMID:36931573|PMID:36988593|PMID:36999887|PMID:37231433|PMID:37239058|PMID:37262391|PMID:37296477|PMID:37306523|PMID:37308967|PMID:37453563|PMID:37509324|PMID:37534630|PMID:37536918|PMID:37673932|PMID:37704212|PMID:37842866|PMID:37937776|PMID:37965459|PMID:38136308|PMID:38284451|PMID:38311346|PMID:38313678|PMID:38344144|PMID:38509102|PMID:38552658|PMID:38566764|PMID:38567167|PMID:38654521|PMID:38773787|PMID:38851388|PMID:38874686|PMID:38898688|PMID:39004446|PMID:39334433|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:862267|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:10037723|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:12697830|PMID:12851690|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15521988|PMID:15608192|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16338176|PMID:16472587|PMID:16507833|PMID:16619239|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17258725|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:18007577|PMID:18030674|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19479271|PMID:19526325|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20051945|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22703879|PMID:22848017|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23288611|PMID:23435383|PMID:23582141|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24113346|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24440087|PMID:24506336|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25640679|PMID:25691505|PMID:25741868|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26318770|PMID:26320870|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26544533|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26845104|PMID:26866578|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27060149|PMID:27064304|PMID:27273229|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27720647|PMID:27742654|PMID:27854218|PMID:27863258|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28007021|PMID:28051113|PMID:2813514|PMID:28135145|PMID:28152038|PMID:28218421|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28912153|PMID:28975465|PMID:29212164|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29665853|PMID:29667044|PMID:29684080|PMID:29717530|PMID:29750335|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29905759|PMID:29941579|PMID:29967336|PMID:30013564|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30376427|PMID:30389464|PMID:30478739|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30764633|PMID:30787465|PMID:30850667|PMID:30877237|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31269945|PMID:31300551|PMID:31332305|PMID:31350202|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31447099|PMID:31486992|PMID:31494577|PMID:31589614|PMID:31742824|PMID:31780696
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:31830689|PMID:31860975|PMID:31874108|PMID:31883735|PMID:31916644|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32359129|PMID:32459922|PMID:32510614|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32794040|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33259954|PMID:33471991|PMID:33535600|PMID:33646313|PMID:33693762|PMID:33821390|PMID:34048176|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34285288|PMID:34326862|PMID:34350294|PMID:34465341|PMID:34482403|PMID:34489406|PMID:34646395|PMID:34667028|PMID:34687117|PMID:34761457|PMID:34793666|PMID:34897210|PMID:35089076|PMID:35098669|PMID:35101336|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35535697|PMID:35651417|PMID:35734982|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35939113|PMID:35988656|PMID:36091175|PMID:36165864|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36421850|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36644715|PMID:36647049|PMID:36715493|PMID:36717774|PMID:36824296|PMID:36988593|PMID:37231433|PMID:37262391|PMID:37310942|PMID:37534630|PMID:37673932|PMID:37842866|PMID:37854294|PMID:37864171|PMID:38023196|PMID:38284451|PMID:38311346|PMID:38358347|PMID:38509102|PMID:38552658|PMID:38734621|PMID:38773787|PMID:38851388|PMID:38898688|PMID:38925456|PMID:38981878|PMID:39004446|PMID:39334433|PMID:7628019|PMID:8072530|PMID:8993976|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:12697830|PMID:12851690|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15521988|PMID:15608192|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16338176|PMID:16472587|PMID:16507833|PMID:16619239|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17258725|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19479271|PMID:19526325|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20051945|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22703879|PMID:22848017|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23288611|PMID:23435383|PMID:23582141|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24113346|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24440087|PMID:24506336|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26318770|PMID:26320870|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26544533|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26845104|PMID:26866578|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27060149|PMID:27064304|PMID:27082517|PMID:27273229|PMID:27376475|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28007021|PMID:28051113|PMID:2813514|PMID:28135145|PMID:28152038|PMID:28218421|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28912153|PMID:28975465|PMID:29212164|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29478780|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29665853|PMID:29667044|PMID:29684080|PMID:29717530|PMID:29750335|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29905759|PMID:29941579|PMID:29967336|PMID:30013564|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30246500|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30337059|PMID:30376427|PMID:30389464|PMID:30478739|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30764633|PMID:30787465|PMID:30850667|PMID:30877237|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31269945|PMID:31300551|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome	PMID:31433215|PMID:31447099|PMID:31486992|PMID:31494577|PMID:31512090|PMID:31589614|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31830689|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31916644|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32359129|PMID:32459922|PMID:32510614|PMID:32547938|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32794040|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33259954|PMID:33442023|PMID:33471991|PMID:33535600|PMID:33646313|PMID:33693762|PMID:33821390|PMID:34048176|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34285288|PMID:34326862|PMID:34350294|PMID:34465341|PMID:34482403|PMID:34489406|PMID:34646395|PMID:34667028|PMID:34687117|PMID:34707284|PMID:34761457|PMID:34793666|PMID:34897210|PMID:34994648|PMID:35089076|PMID:35098669|PMID:35101336|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35535697|PMID:35651417|PMID:35734982|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35939113|PMID:35988656|PMID:36091175|PMID:36165864|PMID:36230473|PMID:36232793|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36421850|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36717774|PMID:36824296|PMID:36824550|PMID:36988593|PMID:37231433|PMID:37262391|PMID:37310942|PMID:37509324|PMID:37534630|PMID:37839795|PMID:37842866|PMID:37854294|PMID:37864171|PMID:38023196|PMID:38284451|PMID:38311346|PMID:38358347|PMID:38509102|PMID:38552658|PMID:38734621|PMID:38773787|PMID:38851388|PMID:38898688|PMID:38925456|PMID:38981878|PMID:39004446|PMID:39334433|PMID:7628019|PMID:8072530|PMID:8993976|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:10037723|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:12697830|PMID:12851690|PMID:14756672|PMID:15256438|PMID:15521988|PMID:15608192|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16338176|PMID:16472587|PMID:16507833|PMID:16619239|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17258725|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19479271|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20051945|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23435383|PMID:23582141|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24068316|PMID:24113346|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24440087|PMID:24506336|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24790682|PMID:25006859|PMID:25186627|PMID:25274553|PMID:25318351|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25640679|PMID:25691505|PMID:25741868|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26318770|PMID:26320870|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26544533|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26811195|PMID:26845104|PMID:26866578|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27037742|PMID:27060149|PMID:27064304|PMID:27273229|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27720647|PMID:27742654|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28007021|PMID:28051113|PMID:2813514|PMID:28135145|PMID:28218421|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503822|PMID:28514183|PMID:28529006|PMID:28562508|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28912153|PMID:28975465|PMID:29212164|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29368341|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29665853|PMID:29667044|PMID:29684080|PMID:29717530|PMID:29750335|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29905759|PMID:29941579|PMID:29945567|PMID:29967336|PMID:30013564|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30376427|PMID:30389464|PMID:30478739|PMID:30521064|PMID:30608896|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30764633|PMID:30787465|PMID:30850667|PMID:30877237|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31269945|PMID:31300551|PMID:31332305|PMID:31350202|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422818|PMID:31433215|PMID:31447099|PMID:31486992|PMID:31494577|PMID:31589614|PMID:31742824|PMID:31780696|PMID:31830689|PMID:31860975|PMID:31874108|PMID:31916644|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32268276|PMID:32359129|PMID:32459922|PMID:32510614|PMID:32547938|PMID:32642664
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:32658311|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32720237|PMID:32761968|PMID:32773772|PMID:32794040|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32980694|PMID:33193653|PMID:33259954|PMID:33471991|PMID:33535600|PMID:33646313|PMID:33693762|PMID:33821390|PMID:34048176|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34371384|PMID:34465341|PMID:34482403|PMID:34489406|PMID:34646395|PMID:34667028|PMID:34687117|PMID:34761457|PMID:34793666|PMID:34897210|PMID:35098669|PMID:35101336|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35306340|PMID:35402282|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35532657|PMID:35651417|PMID:35734982|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35939113|PMID:35988656|PMID:36091175|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36421850|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36717774|PMID:36824296|PMID:36988593|PMID:37231433|PMID:37310942|PMID:37534630|PMID:37842866|PMID:37854294|PMID:37864171|PMID:37937776|PMID:38023196|PMID:38284451|PMID:38311346|PMID:38358347|PMID:38509102|PMID:38552658|PMID:38734621|PMID:38773787|PMID:38851388|PMID:38925456|PMID:38981878|PMID:39334433|PMID:8072530|PMID:8993976|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:480	movement disease		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5041	esophageal cancer		ISO	RGD:1313536	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:17576681|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31874108|PMID:31992580|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:7628019|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28195393|PMID:28365877|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31874108|PMID:31992580|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35535697|PMID:7628019|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27050224|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28195393|PMID:28365877|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31874108|PMID:31992580|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35535697|PMID:7628019|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27050224|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28195393|PMID:28365877|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29333623|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31874108|PMID:31992580|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35263119|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25326637|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27050224|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29333623|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:30013564|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30612635|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35189042|PMID:35263119|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27050224|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29333623|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:30013564|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30612635|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35189042|PMID:35263119|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33821390|PMID:33850299|PMID:34271781|PMID:34284872|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9419979|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:34271781|PMID:34284872|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9419979|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:34271781|PMID:34284872|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9419979|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:34271781|PMID:34284872|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9419979|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26416026|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28617965|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29570743|PMID:29597095|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34820595|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:36134613|PMID:36243179|PMID:36360190|PMID:36446039|PMID:37536918|PMID:7628019|PMID:9419979|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33258288|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36446039|PMID:37536918|PMID:7628019|PMID:9419979|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28286799|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33258288|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36446039|PMID:7628019|PMID:9419979|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28286799|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33258288|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36446039|PMID:37536918|PMID:7628019|PMID:9419979|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28286799|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33258288|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36446039|PMID:37296477|PMID:37536918|PMID:7628019|PMID:9419979|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28286799|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33258288|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36743879|PMID:37296477|PMID:37536918|PMID:7628019|PMID:9419979|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28286799|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33258288|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36743879|PMID:37296477|PMID:37536918|PMID:7628019|PMID:9419979|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28286799|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33258288|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36743879|PMID:36790526|PMID:37296477|PMID:37536918|PMID:38552658|PMID:7628019|PMID:9419979|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28286799|PMID:28365877|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30246500|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30311369|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30787465|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31486992|PMID:31784482|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34707284|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36743879|PMID:36790526|PMID:37231433|PMID:37262391|PMID:37296477|PMID:37534630|PMID:37536918|PMID:38552658|PMID:38567167|PMID:38773787|PMID:38851388|PMID:38898688|PMID:39004446|PMID:7628019|PMID:9419979|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28286799|PMID:28365877|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30246500|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30311369|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30787465|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31486992|PMID:31784482|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34707284|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36743879|PMID:36790526|PMID:37231433|PMID:37262391|PMID:37296477|PMID:37534630|PMID:37536918|PMID:38552658|PMID:38567167|PMID:38773787|PMID:38851388|PMID:38898688|PMID:39004446|PMID:7628019|PMID:9419979|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28286799|PMID:28365877|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30246500|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30311369|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30787465|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31486992|PMID:31784482|PMID:31874108|PMID:31916644|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34707284|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36743879|PMID:36790526|PMID:37231433|PMID:37262391|PMID:37296477|PMID:37534630|PMID:37536918|PMID:38552658|PMID:38567167|PMID:38773787|PMID:38851388|PMID:38898688|PMID:39004446|PMID:7628019|PMID:9419979|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30246500|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30311369|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30787465|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31486992|PMID:31784482|PMID:31874108|PMID:31916644|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34707284|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36743879|PMID:36790526|PMID:37231433|PMID:37262391|PMID:37296477|PMID:37534630|PMID:37536918|PMID:38552658|PMID:38567167|PMID:38773787|PMID:38851388|PMID:38898688|PMID:39004446|PMID:7628019|PMID:9419979|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28590052|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30246500|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30311369|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30787465|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31486992|PMID:31784482|PMID:31874108|PMID:31916644|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:33939675|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34707284|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36409970|PMID:36446039|PMID:36743879|PMID:36790526|PMID:37231433|PMID:37262391|PMID:37296477|PMID:37534630|PMID:37536918|PMID:37791908|PMID:38552658|PMID:38567167|PMID:38773787|PMID:38851388|PMID:38898688|PMID:39004446|PMID:7628019|PMID:9419979|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10479499|PMID:10480359|PMID:15077197|PMID:18273873|PMID:18602922|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20698049|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:23709753|PMID:24027009|PMID:24033266|PMID:24689082|PMID:24728327|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26467025|PMID:26483394|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26976419|PMID:27028851|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27601186|PMID:27616075|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28051113|PMID:28135145|PMID:28466842|PMID:28492532|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29212164|PMID:29333623|PMID:29659569|PMID:29684080|PMID:29750335|PMID:29785153|PMID:29887214|PMID:30256826|PMID:30267214|PMID:30337059|PMID:30651582|PMID:30653781|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31486992|PMID:31874108|PMID:31916644|PMID:31992580|PMID:32566746|PMID:32658311|PMID:32885271|PMID:33120919|PMID:33193653|PMID:33471991|PMID:33821390|PMID:34326862|PMID:34761457|PMID:35089076|PMID:35171259|PMID:35402282|PMID:35449176|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36717774|PMID:37231433|PMID:38773787|PMID:38925456
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10479499|PMID:10480359|PMID:15077197|PMID:18273873|PMID:18602922|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20698049|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:23709753|PMID:24027009|PMID:24033266|PMID:24689082|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26467025|PMID:26483394|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26976419|PMID:27028851|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27601186|PMID:27616075|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28051113|PMID:28135145|PMID:28466842|PMID:28492532|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29212164|PMID:29333623|PMID:29659569|PMID:29684080|PMID:29750335|PMID:29785153|PMID:29887214|PMID:30256826|PMID:30267214|PMID:30337059|PMID:30651582|PMID:30653781|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31486992|PMID:31874108|PMID:31916644|PMID:31992580|PMID:32658311|PMID:32885271|PMID:33120919|PMID:33193653|PMID:33471991|PMID:33821390|PMID:34326862|PMID:34761457|PMID:35089076|PMID:35171259|PMID:35402282|PMID:35449176|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36717774|PMID:37231433|PMID:38773787|PMID:38925456
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10479499|PMID:10480359|PMID:15077197|PMID:17417778|PMID:18273873|PMID:18602922|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20698049|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:24027009|PMID:24033266|PMID:24689082|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26467025|PMID:26483394|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26976419|PMID:27028851|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27601186|PMID:27616075|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28051113|PMID:28135145|PMID:28466842|PMID:28492532|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29212164|PMID:29333623|PMID:29659569|PMID:29684080|PMID:29750335|PMID:29785153|PMID:29887214|PMID:30246500|PMID:30256826|PMID:30267214|PMID:30311369|PMID:30337059|PMID:30651582|PMID:30653781|PMID:30787465|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31486992|PMID:31874108|PMID:31916644|PMID:31992580|PMID:32658311|PMID:32885271|PMID:33120919|PMID:33193653|PMID:33471991|PMID:33821390|PMID:34326862|PMID:34707284|PMID:34761457|PMID:35089076|PMID:35171259|PMID:35402282|PMID:35449176|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36717774|PMID:37231433|PMID:38773787|PMID:38925456
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:17016615|PMID:17417778|PMID:18273873|PMID:18602922|PMID:19479271|PMID:20186688|PMID:20205264|PMID:20531397|PMID:20698049|PMID:22290698|PMID:22577899|PMID:22949387|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24351291|PMID:25006859|PMID:25186627|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26232782|PMID:26467025|PMID:26483394|PMID:26689913|PMID:26866578|PMID:26976419|PMID:27435373|PMID:27601186|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28051113|PMID:28135145|PMID:28492532|PMID:28765196|PMID:28873162|PMID:28975465|PMID:29212164|PMID:29333623|PMID:29368341|PMID:29596542|PMID:29659569|PMID:29684080|PMID:29750335|PMID:29785153|PMID:29887214|PMID:30256826|PMID:30267214|PMID:30337059|PMID:30651582|PMID:30653781|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31433215|PMID:31486992|PMID:31874108|PMID:31916644|PMID:31992580|PMID:32459922|PMID:32658311|PMID:32720237|PMID:32885271|PMID:32980694|PMID:33193653|PMID:33471991|PMID:33821390|PMID:34172528|PMID:34326862|PMID:34371384|PMID:34761457|PMID:35171259|PMID:35264596|PMID:35306340|PMID:35402282|PMID:35449176|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36717774|PMID:37231433|PMID:37937776|PMID:38311346|PMID:38773787|PMID:38851388|PMID:38925456|PMID:39334433
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:21376568|PMID:22848017|PMID:23012243|PMID:24362816|PMID:24689082|PMID:25512458|PMID:25741868|PMID:26110232|PMID:26467025|PMID:26681312|PMID:27435373|PMID:28492532|PMID:28514183|PMID:29967336|PMID:31992580|PMID:35223509
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313536	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:7998	hyperthyroidism		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:824	periodontitis		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:8488	polyhydramnios		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:21376568|PMID:22848017|PMID:23012243|PMID:24362816|PMID:24689082|PMID:25512458|PMID:25741868|PMID:26110232|PMID:26467025|PMID:26681312|PMID:27435373|PMID:28492532|PMID:28514183|PMID:29967336|PMID:31992580|PMID:35223509
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1313536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17717427
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1313536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15077197
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian Neoplasms	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9002904	Primitive Neuroectodermal Tumors		ISO	RGD:1313536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15077197
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1313536	D	RGD:9068941	20200609	RGD			PMID:10763829|REF_RGD_ID:1599141
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9003507	Premature Birth		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9003685	Mismatch Repair Cancer Syndrome 4		ISO	RGD:1313536	D	RGD:7240710	20201202	OMIM			
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9003685	Mismatch Repair Cancer Syndrome 4		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 4 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 4 | ClinVar Annotator: match by term: PMS2-related condition	PMID:10763829|PMID:16199547|PMID:16472587|PMID:16507833|PMID:17016615|PMID:17417778|PMID:18178629|PMID:18602922|PMID:18768816|PMID:19132747|PMID:19283792|PMID:19479271|PMID:1992580|PMID:20186688|PMID:20205264|PMID:20531397|PMID:20587412|PMID:20603082|PMID:21239990|PMID:21376568|PMID:21520333|PMID:22290698|PMID:22577899|PMID:22675565|PMID:22703879|PMID:22848017|PMID:22949387|PMID:23012243|PMID:23376243|PMID:23435383|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24113346|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24710284|PMID:24728327|PMID:25151201|PMID:25186627|PMID:25318351|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25637381|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25980754|PMID:26110232|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26837502|PMID:26888055|PMID:26895986|PMID:26976419|PMID:27435373|PMID:27443514|PMID:27601186|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28051113|PMID:2813514|PMID:28135145|PMID:28449805|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28640387|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28912153|PMID:28975465|PMID:29345684|PMID:29356034|PMID:29566657|PMID:29570743|PMID:29581542|PMID:29596542|PMID:29684080|PMID:29750335|PMID:29785153|PMID:29887214|PMID:29905759|PMID:29945567|PMID:29967336|PMID:30093976|PMID:30161022|PMID:30166348|PMID:30306255|PMID:30322717|PMID:30478739|PMID:30521064|PMID:30608896|PMID:30651582|PMID:30653781|PMID:31101557|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31486992|PMID:31742824|PMID:31780696|PMID:31830689|PMID:31874108|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32268276|PMID:32459922|PMID:32547938|PMID:32620519|PMID:32642664|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32720237|PMID:32832836|PMID:32868316|PMID:32914570|PMID:32980694|PMID:33193653|PMID:33259954|PMID:33471991|PMID:33535600|PMID:33693762|PMID:33821390|PMID:34250417|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34371384|PMID:34482403|PMID:34489406|PMID:34897210|PMID:35125405|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35306340|PMID:35402282|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35988656|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36715493|PMID:36988593|PMID:37231433|PMID:37937776|PMID:38311346|PMID:38358347|PMID:38509102|PMID:38552658|PMID:38734621|PMID:38773787|PMID:38851388|PMID:38874686|PMID:38981878|PMID:39334433
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:1313536	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: BTP1 SYNDROME | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1	PMID:10037723|PMID:11574484|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15955779|PMID:16144131|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17557300|PMID:17576681|PMID:18007577|PMID:18273873|PMID:18602922|PMID:18824584|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19495563|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21618646|PMID:22081473|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22658618|PMID:22703879|PMID:22848017|PMID:22918162|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24326041|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26845104|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27273229|PMID:27356891|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27535533|PMID:27589204|PMID:27601186|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28218421|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28724667|PMID:28726808|PMID:28805995|PMID:28873162|PMID:28874130|PMID:29489754|PMID:29570743|PMID:29625052|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30077346|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30447919|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30680046|PMID:30702970|PMID:30760869|PMID:30764633|PMID:30787465|PMID:31056861|PMID:31159747|PMID:31327751|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31507588|PMID:31589614|PMID:31599855|PMID:31857677|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32459922|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33087929|PMID:33120919|PMID:33258288|PMID:33259954|PMID:33471991|PMID:33504652|PMID:33693762|PMID:33753322|PMID:33881185|PMID:34048176|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34326862|PMID:34371384|PMID:34680242|PMID:35089076|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35475445|PMID:35535697|PMID:35886069|PMID:35982947|PMID:36360190|PMID:36988593|PMID:37536918|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:1313536	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BTP1 SYNDROME | ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1	PMID:10037723|PMID:11574484|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15955779|PMID:16144131|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17557300|PMID:17576681|PMID:18273873|PMID:18602922|PMID:18824584|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19495563|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21618646|PMID:22081473|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22658618|PMID:22703879|PMID:22848017|PMID:22918162|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24326041|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26333163|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26845104|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27273229|PMID:27356891|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27535533|PMID:27589204|PMID:27601186|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28135145|PMID:28152038|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28724667|PMID:28726808|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:29489754|PMID:29570743|PMID:29625052|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30077346|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30447919|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30680046|PMID:30702970|PMID:30723297|PMID:30760869|PMID:30764633|PMID:30787465|PMID:31054147|PMID:31056861|PMID:31159747|PMID:31297337|PMID:31327751|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31507588|PMID:31599855|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32459922|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32832836|PMID:32876971|PMID:32885271|PMID:32959997|PMID:33087929|PMID:33120919|PMID:33259954|PMID:33471991|PMID:33693762|PMID:33753322|PMID:33881185|PMID:34048176|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308104|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34897210|PMID:35089076|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35441217|PMID:35449176|PMID:35451539|PMID:35475445|PMID:35532657|PMID:35535697|PMID:35886069|PMID:35982947|PMID:36169650|PMID:36360190|PMID:36644715|PMID:36790526|PMID:36988593|PMID:37262391|PMID:37296477|PMID:37534630|PMID:37536918|PMID:37673932|PMID:38284451|PMID:38313678|PMID:38851388|PMID:38898688|PMID:39004446|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BTP1 SYNDROME | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1 | ClinVar Annotator: match by term: mismatch repair cancer syndrome 1	PMID:16199547|PMID:17016615|PMID:17576681|PMID:18602922|PMID:20186688|PMID:20205264|PMID:20682701|PMID:21261604|PMID:21376568|PMID:22290698|PMID:22848017|PMID:23012243|PMID:24362816|PMID:24440087|PMID:24689082|PMID:25186627|PMID:25512458|PMID:25741868|PMID:25856668|PMID:25980754|PMID:26110232|PMID:26232782|PMID:26247049|PMID:26467025|PMID:26681312|PMID:27435373|PMID:27601186|PMID:27930734|PMID:28007021|PMID:28492532|PMID:28514183|PMID:29128982|PMID:29684080|PMID:29922827|PMID:29967336|PMID:30256826|PMID:31332305|PMID:31391288|PMID:31433215|PMID:31992580|PMID:32720237|PMID:32773772|PMID:33471991|PMID:34326862|PMID:35223509|PMID:35306340|PMID:35532657|PMID:35886069|PMID:36586540|PMID:36988593|PMID:37937776|PMID:38311346|PMID:38851388|PMID:39334433|PMID:9536098
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9004268	Uterine Neoplasms		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm of uterus	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9004271	Colonic Polyps		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon polyps	PMID:19479271|PMID:24027009|PMID:24033266|PMID:25186627|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26467025|PMID:26689913|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29785153|PMID:30651582|PMID:30653781|PMID:31159747|PMID:31391288|PMID:31992580|PMID:34326862
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9006537	Supratentorial Neoplasms		ISO	RGD:1313536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15077197
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11897781|PMID:12208142|PMID:12714694|PMID:12851690|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18602922|PMID:18619468|PMID:18709565|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22941189|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29286535|PMID:29333623|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29570743
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:31101557|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32295625|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34178123|PMID:34284872|PMID:34371384|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18602922|PMID:18619468|PMID:18709565|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29489754|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:31101557|PMID:31102422|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31599855|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32295625|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32628757|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34271781|PMID:34284872|PMID:34350294|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35402282|PMID:35535697|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11948175|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18709565|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20600922|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22204421|PMID:22290698|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22740367|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27820123|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:2813514|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35263119|PMID:35402282|PMID:35475445|PMID:35535697|PMID:35734982|PMID:36091175|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11948175|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18709565|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20600922|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22204421|PMID:22290698|PMID:22295133|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22740367|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27820123|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:34646395|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11948175|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18709565|PMID:187425|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20600922|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22204421|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22740367|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27820123|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28514183|PMID:285143|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34680242|PMID:34820595|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:35982947|PMID:36011273|PMID:36091175|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36931573|PMID:36988593|PMID:36999887|PMID:37536918|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11948175|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:187425|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20600922|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22204421|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22740367|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27820123|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31042466|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31248605|PMID:31269945|PMID:31297337|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34680242|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34964038|PMID:34994648|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35532657|PMID:35535697|PMID:35734982|PMID:35739278|PMID:35886069|PMID:35939113|PMID:35982947|PMID:36011273|PMID:36091175|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36931573|PMID:36988593
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:36999887|PMID:37296477|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:36999887|PMID:37296477|PMID:37536918|PMID:37673932|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10037723|PMID:10763829|PMID:11574484|PMID:11948175|PMID:12697830|PMID:12851690|PMID:15608192|PMID:15887099|PMID:15942939|PMID:16187360|PMID:16199547|PMID:16338176|PMID:16472587|PMID:16507833|PMID:16619239|PMID:17016615|PMID:17417778|PMID:17576681|PMID:17851451|PMID:17976239|PMID:18178629|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19723918|PMID:1992580|PMID:20051945|PMID:20186688|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20600922|PMID:20603082|PMID:20698049|PMID:21261604|PMID:21354867|PMID:21376568|PMID:21520333|PMID:22204421|PMID:22290698|PMID:22295133|PMID:22461402|PMID:22577899|PMID:22848017|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23629955|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24113346|PMID:24351291|PMID:24362816|PMID:24440087|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24790682|PMID:25006859|PMID:25186627|PMID:25274553|PMID:25318351|PMID:25430799|PMID:25503501|PMID:25512458|PMID:25637381|PMID:25691505|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26318770|PMID:26391938|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26866578|PMID:26895986|PMID:26976419|PMID:27017610|PMID:27064304|PMID:27146957|PMID:27273229|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27589204|PMID:27601186|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27820123|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28007021|PMID:28051113|PMID:2813514|PMID:28135145|PMID:28218421|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28640387|PMID:28668860|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28912153|PMID:28975465|PMID:29025590|PMID:29192238|PMID:29212164|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29368341|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29665853|PMID:29684080|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29905759|PMID:29945567|PMID:29967336|PMID:30013564|PMID:30093976|PMID:30161022|PMID:30166348|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30376427|PMID:30389464|PMID:30478739|PMID:30521064|PMID:30608896|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30740824|PMID:30764633|PMID:30833958|PMID:30850667|PMID:30877237|PMID:31101557|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31332305|PMID:31350202|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31433215|PMID:31486992|PMID:31589614|PMID:31599855|PMID:31642931|PMID:31742824|PMID:31780696|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31874108|PMID:31916644|PMID:31942411|PMID:31992580|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32268276|PMID:32359129|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32571878|PMID:32642664|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32720237|PMID:32761968|PMID:32794040|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32980694|PMID:33193653|PMID:33247381|PMID:33471991|PMID:33535600|PMID:33646313|PMID:33693762|PMID:33821390|PMID:34172528|PMID:34250417|PMID:34284872|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34371384|PMID:34482403|PMID:34489406|PMID:34646395|PMID:34687117|PMID:34761457|PMID:34793666|PMID:34897210|PMID:34964038|PMID:3501477|PMID:35101336|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35306340|PMID:35402282|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35532657|PMID:35651417|PMID:35884425|PMID:35886069|PMID:35988656|PMID:36091691|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36315513
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:36356413|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36717774|PMID:36988593|PMID:36999887|PMID:37231433|PMID:37864171|PMID:37937776|PMID:38311346|PMID:38358347|PMID:38509102|PMID:38552658|PMID:38654521|PMID:38734621|PMID:38773787|PMID:38851388|PMID:38925456|PMID:38981878|PMID:39334433|PMID:862267|PMID:9536098
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1313536	D	RGD:9068941	20200609	RGD			PMID:10763829|REF_RGD_ID:1599141
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm	PMID:25741868|PMID:28492532
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313536	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:27449771|PMID:27616075|PMID:28492532|PMID:31159747|PMID:33294277|PMID:35089076
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313536	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:26689913|PMID:27449771|PMID:27616075|PMID:28492532|PMID:31159747|PMID:33294277|PMID:35089076|PMID:35127508|PMID:36011273
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313536	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:26689913|PMID:27449771|PMID:27616075|PMID:28492532|PMID:31159747|PMID:31391288|PMID:33294277|PMID:35089076|PMID:35127508|PMID:36011273
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:21261604|PMID:25741868|PMID:25856668|PMID:26110232|PMID:26247049|PMID:28492532|PMID:28514183|PMID:30256826|PMID:35532657|PMID:36988593
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
8749942	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:936	brain disease		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:28492532
8749961	Sars1	seryl-tRNA synthetase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8749961	Sars1	seryl-tRNA synthetase 1	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:1348583	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebral arteriovenous malformation	PMID:25741868
8749961	Sars1	seryl-tRNA synthetase 1	gene	DOID:0070754	neurodevelopmental disorder with microcephaly, ataxia, and seizures		ISO	RGD:1348583	D	RGD:7240710	20190315	OMIM			
8749961	Sars1	seryl-tRNA synthetase 1	gene	DOID:0070754	neurodevelopmental disorder with microcephaly, ataxia, and seizures		ISO	RGD:1348583	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, ataxia, and seizures | ClinVar Annotator: match by term: SARS1-related condition | ClinVar Annotator: match by term: SARS1-related disorders	PMID:25741868|PMID:36041817
8749961	Sars1	seryl-tRNA synthetase 1	gene	DOID:10286	prostate carcinoma		ISO	RGD:1348583	D	RGD:9068941	20210212	RGD		mRNA:decreased expression:prostate gland (human)	PMID:26317032|REF_RGD_ID:41410436
8749961	Sars1	seryl-tRNA synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8749961	Sars1	seryl-tRNA synthetase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1348583	D	RGD:9068941	20210212	RGD		protein:missense mutation:CDS:p.D172N (human)	PMID:28236339|REF_RGD_ID:41410435
8749961	Sars1	seryl-tRNA synthetase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8749961	Sars1	seryl-tRNA synthetase 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1348583	D	RGD:9068941	20230803	CTD		CTD Direct Evidence: marker/mechanism	PMID:34961328
8749961	Sars1	seryl-tRNA synthetase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8749961	Sars1	seryl-tRNA synthetase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348583	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8749961	Sars1	seryl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749961	Sars1	seryl-tRNA synthetase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8749961	Sars1	seryl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8749961	Sars1	seryl-tRNA synthetase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:0060335	autosomal dominant sideroblastic anemia 4		ISO	RGD:1323451	D	RGD:7240710	20190315	OMIM			
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:0060335	autosomal dominant sideroblastic anemia 4		ISO	RGD:1323451	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ANEMIA, SIDEROBLASTIC, 4 | ClinVar Annotator: match by term: HSPA9-related condition	PMID:28492532
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:0080855	Parkinsonism		ISO	RGD:1311806	D	RGD:9068941	20200609	RGD		protein:decreased expression:striatum	PMID:21542017|REF_RGD_ID:6784518
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1323451	D	RGD:9068941	20200609	RGD			PMID:17050040|REF_RGD_ID:10402560
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1323452	D	RGD:9068941	20200609	RGD			PMID:17050040|REF_RGD_ID:10402560
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:13141	uveitis		ISO	RGD:1323451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21850155
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:14330	Parkinson's disease		ISO	RGD:1323451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16565515
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:14330	Parkinson's disease		ISO	RGD:1323451	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:A>T476(human)	PMID:20817635|REF_RGD_ID:6784528
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:14330	Parkinson's disease		ISO	RGD:1323451	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple:	PMID:19657588|REF_RGD_ID:6784529
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:14330	Parkinson's disease		ISO	RGD:1323451	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:16565515|REF_RGD_ID:6784531
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:14330	Parkinson's disease	disease_progression	ISO	RGD:1323451	D	RGD:9068941	20200609	RGD			PMID:18219256|REF_RGD_ID:6784530
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:1909	melanoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:2316	brain ischemia		ISO	RGD:1311806	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:7629893|REF_RGD_ID:6784525
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:417	autoimmune disease		ISO	RGD:1323451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21850155
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1323451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1323451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:630	genetic disease		ISO	RGD:1323451	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1323451	D	RGD:9068941	20200609	RGD		protein:increased expression:synovial cell:	PMID:23739258|REF_RGD_ID:10402561
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:1323451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18806098
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:8955	sideroblastic anemia		ISO	RGD:1323451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:9005930	Endotoxemia		ISO	RGD:1323451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16741687
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:9006624	EVEN-PLUS SYNDROME		ISO	RGD:1323451	D	RGD:7240710	20190315	OMIM			
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:9006624	EVEN-PLUS SYNDROME		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EVEN-PLUS SYNDROME | ClinVar Annotator: match by term: Even-plus syndrome	PMID:25741868|PMID:26491070|PMID:26598328|PMID:31338833|PMID:33398880
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1323451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8749983	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8750004	E4f1	E4F transcription factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8750004	E4f1	E4F transcription factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750004	E4f1	E4F transcription factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1348626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8750004	E4f1	E4F transcription factor 1	gene	DOID:1909	melanoma		ISO	RGD:1348626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8750004	E4f1	E4F transcription factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8750004	E4f1	E4F transcription factor 1	gene	DOID:3275	thymoma		ISO	RGD:1348626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8750004	E4f1	E4F transcription factor 1	gene	DOID:3649	pyruvate decarboxylase deficiency		ISO	RGD:1348626	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	PMID:25741868|PMID:26968897
8750004	E4f1	E4F transcription factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8750004	E4f1	E4F transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750004	E4f1	E4F transcription factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8750004	E4f1	E4F transcription factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8750004	E4f1	E4F transcription factor 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1348626	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30506647
8750004	E4f1	E4F transcription factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8750039	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8750039	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750039	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:1909	melanoma		ISO	RGD:1351553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8750039	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:3070	high grade glioma		ISO	RGD:1351553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8750039	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1351553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8750039	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750039	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1351553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8750039	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8750039	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:9002165	Diabetic Nephropathies	susceptibility	ISO	RGD:1351553	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:3' utr	PMID:14764791|REF_RGD_ID:2307362
8750039	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1351553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8750039	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8750039	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8750039	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1351553	D	RGD:9068941	20200609	RGD		DNA:missense mutation, SNPs:exon, 3' utr:multiple	PMID:14764791|REF_RGD_ID:2307362
8750062	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8750062	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8750062	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:1115	sarcoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8750062	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:1324	lung cancer		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8750062	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:1909	melanoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8750062	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:3275	thymoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8750062	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8750062	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605064	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8750062	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8750062	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605064	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8750062	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8750062	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8750062	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:1605064	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14499481
8750062	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8750062	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8750062	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8750085	Mea1	male-enhanced antigen 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750085	Mea1	male-enhanced antigen 1	gene	DOID:1059	intellectual disability		ISO	RGD:1346327	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:18414213|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28492532|PMID:30676711|PMID:34906502
8750085	Mea1	male-enhanced antigen 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8750085	Mea1	male-enhanced antigen 1	gene	DOID:1909	melanoma		ISO	RGD:1346327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8750085	Mea1	male-enhanced antigen 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346327	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8750085	Mea1	male-enhanced antigen 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8750099	Pcdh12	protocadherin 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8750099	Pcdh12	protocadherin 12	gene	DOID:630	genetic disease		ISO	RGD:1348823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8750099	Pcdh12	protocadherin 12	gene	DOID:9002568	Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1		ISO	RGD:1348823	D	RGD:7240710	20191106	OMIM			
8750099	Pcdh12	protocadherin 12	gene	DOID:9002568	Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1		ISO	RGD:1348823	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 | ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 | ClinVar Annotator: match by term: PCDH12-related condition	PMID:25741868|PMID:28492532
8750099	Pcdh12	protocadherin 12	gene	DOID:9006012	Microcephaly with Spastic Quadriplegia		ISO	RGD:1348823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly with spastic quadriplegia	PMID:25741868|PMID:28492532
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:0050891	adrenal cortical adenoma		ISO	RGD:735332	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma	
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:0111558	Charcot-Marie-Tooth disease type 2DD		ISO	RGD:735332	D	RGD:7240710	20190315	OMIM			
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:0111558	Charcot-Marie-Tooth disease type 2DD		ISO	RGD:735332	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: ATP1A1-related condition | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2DD | ClinVar Annotator: match by term: Charcot-Marie-tooth disease, axonal, type 2DD	PMID:17576681|PMID:21208200|PMID:25741868|PMID:28492532|PMID:29499166|PMID:30388404|PMID:31373411|PMID:31705535|PMID:9536098
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:2167	D	RGD:9068941	20200609	RGD		protein:decreased expression:cochlea:	PMID:23827367|REF_RGD_ID:7349365
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:10283	prostate cancer		ISO	RGD:735332	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:10283	prostate cancer		ISO	RGD:735332	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:10763	hypertension		ISO	RGD:2167	D	RGD:9068941	20200609	RGD			PMID:8082931|REF_RGD_ID:1579862
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:10763	hypertension		ISO	RGD:735332	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23416519
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:1909	melanoma		ISO	RGD:735332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:3426	vestibular disease		ISO	RGD:735332	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21269433
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:4362	cervical cancer		ISO	RGD:735332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:440	neuromuscular disease		ISO	RGD:735332	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:446	primary hyperaldosteronism		ISO	RGD:735332	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23416519
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:5844	myocardial infarction		ISO	RGD:735332	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:29702141
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:630	genetic disease		ISO	RGD:735332	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:657	adenoma		ISO	RGD:735332	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23416519|PMID:23913004
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:735332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:9006615	HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2		ISO	RGD:735332	D	RGD:7240710	20190315	OMIM			
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:9006615	HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2		ISO	RGD:735332	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 2	PMID:25741868|PMID:28492532|PMID:30388404
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:735332	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:735332	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:735332	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:29702141
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:9008817	Transmissible Gastroenteritis, of Swine		ISO	RGD:735332	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28438630
8750112	Atp1a1	ATPase Na+/K+ transporting subunit alpha 1	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:2167	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebral cortex	PMID:23467881|REF_RGD_ID:11576285
8750141	Tkt	transketolase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8750141	Tkt	transketolase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750141	Tkt	transketolase	gene	DOID:10534	stomach cancer		ISO	RGD:732645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8750141	Tkt	transketolase	gene	DOID:1909	melanoma		ISO	RGD:732645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8750141	Tkt	transketolase	gene	DOID:2384	Wernicke encephalopathy		ISO	RGD:732645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3762968
8750141	Tkt	transketolase	gene	DOID:2394	ovarian cancer		ISO	RGD:732645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8750141	Tkt	transketolase	gene	DOID:305	carcinoma		ISO	RGD:732645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8750141	Tkt	transketolase	gene	DOID:3070	high grade glioma		ISO	RGD:732645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8750141	Tkt	transketolase	gene	DOID:3275	thymoma		ISO	RGD:732645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8750141	Tkt	transketolase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8750141	Tkt	transketolase	gene	DOID:4362	cervical cancer		ISO	RGD:732645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8750141	Tkt	transketolase	gene	DOID:5041	esophageal cancer		ISO	RGD:732645	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8750141	Tkt	transketolase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750141	Tkt	transketolase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:732645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8750141	Tkt	transketolase	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:732645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8750141	Tkt	transketolase	gene	DOID:9002669	Hypoxia		ISO	RGD:732645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19579223
8750141	Tkt	transketolase	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:732645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15654357
8750141	Tkt	transketolase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:732645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8750141	Tkt	transketolase	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:732645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8750141	Tkt	transketolase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:732645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8750141	Tkt	transketolase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8750141	Tkt	transketolase	gene	DOID:9008862	Short Stature, Developmental Delay, and Congenital Heart Defects		ISO	RGD:732645	D	RGD:7240710	20190315	OMIM			
8750141	Tkt	transketolase	gene	DOID:9008862	Short Stature, Developmental Delay, and Congenital Heart Defects		ISO	RGD:732645	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: TKT-related condition | ClinVar Annotator: match by term: Transketolase deficiency | ClinVar Annotator: match by term: transketolase deficiency	PMID:25741868|PMID:27259054|PMID:28492532
8750141	Tkt	transketolase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8750141	Tkt	transketolase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8750141	Tkt	transketolase	gene	DOID:9256	colorectal cancer		ISO	RGD:732645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8750159	Slc67a2	solute carrier family 67 member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8750159	Slc67a2	solute carrier family 67 member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8750159	Slc67a2	solute carrier family 67 member 2	gene	DOID:1909	melanoma		ISO	RGD:1606209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8750159	Slc67a2	solute carrier family 67 member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8750159	Slc67a2	solute carrier family 67 member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606209	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8750159	Slc67a2	solute carrier family 67 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8750159	Slc67a2	solute carrier family 67 member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8750168	Rab11fip2	RAB11 family interacting protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750168	Rab11fip2	RAB11 family interacting protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8750168	Rab11fip2	RAB11 family interacting protein 2	gene	DOID:1909	melanoma		ISO	RGD:1344867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8750168	Rab11fip2	RAB11 family interacting protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8750168	Rab11fip2	RAB11 family interacting protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8750188	Mlana	melan-A	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1315192	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:22784439
8750188	Mlana	melan-A	gene	DOID:1909	melanoma		ISO	RGD:1315192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26640592
8750188	Mlana	melan-A	gene	DOID:2773	contact dermatitis		ISO	RGD:1315192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
8750188	Mlana	melan-A	gene	DOID:9001834	Peritoneal Neoplasms		ISO	RGD:1315192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22784439
8750196	Dbx1	developing brain homeobox 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8750196	Dbx1	developing brain homeobox 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1605302	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
8750196	Dbx1	developing brain homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8750208	Ttf2	transcription termination factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8750208	Ttf2	transcription termination factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750208	Ttf2	transcription termination factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319323	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8750208	Ttf2	transcription termination factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1319323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8750208	Ttf2	transcription termination factor 2	gene	DOID:14780	KBG syndrome		ISO	RGD:1319323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: KBG syndrome	PMID:25741868
8750208	Ttf2	transcription termination factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8750208	Ttf2	transcription termination factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8750208	Ttf2	transcription termination factor 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8750208	Ttf2	transcription termination factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8750208	Ttf2	transcription termination factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750208	Ttf2	transcription termination factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8750208	Ttf2	transcription termination factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8750208	Ttf2	transcription termination factor 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1319323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8750247	Ctnnb1	catenin beta 1	gene	DOID:0001816	angiosarcoma		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:13678655
8750247	Ctnnb1	catenin beta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8750247	Ctnnb1	catenin beta 1	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25811541
8750247	Ctnnb1	catenin beta 1	gene	DOID:0050535	exudative vitreoretinopathy		ISO	RGD:1550466	D	RGD:9068941	20230511	MouseDO			
8750247	Ctnnb1	catenin beta 1	gene	DOID:0050591	tooth agenesis		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligodontia	PMID:25741868|PMID:28330790|PMID:28492532|PMID:33350591
8750247	Ctnnb1	catenin beta 1	gene	DOID:0050746	mantle cell lymphoma		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18787224
8750247	Ctnnb1	catenin beta 1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
8750247	Ctnnb1	catenin beta 1	gene	DOID:0050868	hepatocellular adenoma		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21147764
8750247	Ctnnb1	catenin beta 1	gene	DOID:0050902	medulloblastoma		ISO	RGD:733705	D	RGD:7240710	20190315	OMIM			
8750247	Ctnnb1	catenin beta 1	gene	DOID:0050902	medulloblastoma		ISO	RGD:733705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA | ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma	PMID:10072352|PMID:10076565|PMID:10192393|PMID:10213482|PMID:10597262|PMID:10987273|PMID:11731417|PMID:11943721|PMID:12466115|PMID:15064718|PMID:19582367|PMID:21163964|PMID:21761366|PMID:21881488|PMID:22142829|PMID:22722829|PMID:22820256|PMID:22832581|PMID:22832583|PMID:23033978|PMID:24332040|PMID:24413733|PMID:24436047|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27004209|PMID:27543871|PMID:27915094|PMID:27993330|PMID:28069929|PMID:28333917|PMID:28492532|PMID:28575650|PMID:28726821|PMID:29435196|PMID:29489754|PMID:30074466|PMID:30699286|PMID:31526516|PMID:31802000|PMID:31857074|PMID:32125720|PMID:32601913|PMID:32782216|PMID:34922552|PMID:35101336|PMID:38421446|PMID:9635572|PMID:9721853|PMID:9927029
8750247	Ctnnb1	catenin beta 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750247	Ctnnb1	catenin beta 1	gene	DOID:0051061	stroke		ISO	RGD:733705	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation, decreased expression:brain	PMID:18241848|REF_RGD_ID:2289837
8750247	Ctnnb1	catenin beta 1	gene	DOID:0051064	left ventricular failure		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
8750247	Ctnnb1	catenin beta 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1550466	D	RGD:9068941	20220825	MouseDO			
8750247	Ctnnb1	catenin beta 1	gene	DOID:0060282	persistent hyperplastic primary vitreous		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous	PMID:25741868
8750247	Ctnnb1	catenin beta 1	gene	DOID:0060695	hyperekplexia		ISO	RGD:733705	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Stiff-man syndrome, congenital	PMID:10192393|PMID:10391090|PMID:25157968|PMID:26619011
8750247	Ctnnb1	catenin beta 1	gene	DOID:0070049	autosomal dominant intellectual developmental disorder 19		ISO	RGD:733705	D	RGD:7240710	20180130	OMIM			
8750247	Ctnnb1	catenin beta 1	gene	DOID:0070049	autosomal dominant intellectual developmental disorder 19		ISO	RGD:733705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CTNNB1-related syndromic intellectual disability | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 19 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS	PMID:23033978|PMID:24614104|PMID:24668549|PMID:25326637|PMID:25326669|PMID:25741868|PMID:2614104|PMID:26350204|PMID:27848944|PMID:27915094|PMID:28330790|PMID:28492532|PMID:28575650|PMID:28856709|PMID:33350591|PMID:33475177|PMID:34558805|PMID:35935366|PMID:36083290|PMID:36790797
8750247	Ctnnb1	catenin beta 1	gene	DOID:0070297	primary microcephaly		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:28330790|PMID:28492532|PMID:33350591
8750247	Ctnnb1	catenin beta 1	gene	DOID:0080264	exudative vitreoretinopathy 7		ISO	RGD:733705	D	RGD:7240710	20190315	OMIM			
8750247	Ctnnb1	catenin beta 1	gene	DOID:0080264	exudative vitreoretinopathy 7		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EXUDATIVE VITREORETINOPATHY 7 | ClinVar Annotator: match by term: Exudative vitreoretinopathy 7	PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650|PMID:31526516|PMID:36083290
8750247	Ctnnb1	catenin beta 1	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:25741868|PMID:28330790|PMID:28492532|PMID:33350591
8750247	Ctnnb1	catenin beta 1	gene	DOID:0080366	desmoid tumor		ISO	RGD:733705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Desmoid tumor	PMID:10597266|PMID:12824913|PMID:15133491|PMID:17558858|PMID:17721184|PMID:17905526|PMID:18282277|PMID:18832571|PMID:20197769|PMID:20232483|PMID:21323417|PMID:22142829|PMID:24332040|PMID:24436047|PMID:25341748|PMID:26171757|PMID:26686699|PMID:26815163|PMID:27993330|PMID:28912153|PMID:29435196|PMID:30617281|PMID:30699286|PMID:31802000|PMID:32099073|PMID:32601913|PMID:33914771|PMID:34166060|PMID:34185076|PMID:35101336|PMID:9065403|PMID:9419974
8750247	Ctnnb1	catenin beta 1	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:733705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:10213482|PMID:10347231|PMID:10597262|PMID:11196159|PMID:11943721|PMID:12466115|PMID:15064718|PMID:15829978|PMID:16140927|PMID:16258095|PMID:16967453|PMID:17258789|PMID:21163964|PMID:22142829|PMID:22158988|PMID:22298898|PMID:22653804|PMID:22722829|PMID:22815287|PMID:22820256|PMID:22832581|PMID:22832583|PMID:23765252|PMID:24332040|PMID:24413733|PMID:24436047|PMID:24747642|PMID:25490274|PMID:2574372|PMID:27165744|PMID:27543871|PMID:27993330|PMID:28069929|PMID:28726821|PMID:29106415|PMID:29435196|PMID:29753700|PMID:30326146|PMID:30699286|PMID:30972907|PMID:31802000|PMID:31857074|PMID:32601913|PMID:32672484|PMID:34166060|PMID:34922552|PMID:35053583|PMID:35101336|PMID:38421446|PMID:9065403|PMID:9537226
8750247	Ctnnb1	catenin beta 1	gene	DOID:0081286	embryonal tumor with multilayered rosettes		ISO	RGD:733705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Embryonal tumor with multilayered rosettes	PMID:10213482|PMID:10347231|PMID:10597262|PMID:10597266|PMID:11196159|PMID:11943721|PMID:12466115|PMID:12824913|PMID:16258095|PMID:16967453|PMID:17258789|PMID:17558858|PMID:17905526|PMID:18282277|PMID:20197769|PMID:20232483|PMID:21163964|PMID:21323417|PMID:22142829|PMID:22158988|PMID:22653804|PMID:22722829|PMID:22815287|PMID:22820256|PMID:22832581|PMID:22832583|PMID:23765252|PMID:24332040|PMID:24413733|PMID:24436047|PMID:25341748|PMID:25741868|PMID:26171757|PMID:26686699|PMID:27543871|PMID:27993330|PMID:28069929|PMID:28726821|PMID:28912153|PMID:29106415|PMID:29435196|PMID:29753700|PMID:30326146|PMID:30617281|PMID:30699286|PMID:30972907|PMID:31802000|PMID:31857074|PMID:32099073|PMID:32601913|PMID:32672484|PMID:32752153|PMID:34166060|PMID:34538872|PMID:34922552|PMID:35101336|PMID:38421446|PMID:39991945|PMID:9065403|PMID:9537226
8750247	Ctnnb1	catenin beta 1	gene	DOID:0081292	traumatic brain injury	treatment	ISO	RGD:70487	D	RGD:9068941	20250130	RGD			PMID:26296359|REF_RGD_ID:597538582
8750247	Ctnnb1	catenin beta 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650
8750247	Ctnnb1	catenin beta 1	gene	DOID:0111349	hereditary desmoid disease		ISO	RGD:733705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Fibromatosis, familial infiltrative	PMID:11943721|PMID:12466115|PMID:16967453|PMID:18282277|PMID:22142829|PMID:22158988|PMID:24332040|PMID:24413733|PMID:24436047|PMID:25741868|PMID:26850916|PMID:27993330|PMID:28069929|PMID:29435196|PMID:29887214|PMID:30617281|PMID:30699286|PMID:30972907|PMID:31802000|PMID:32672484|PMID:32752153|PMID:34166060|PMID:34538872|PMID:39991945
8750247	Ctnnb1	catenin beta 1	gene	DOID:0111535	progressive osseous heteroplasia		ISO	RGD:733705	D	RGD:9068941	20200609	RGD		protein:increased expression:dermis:	PMID:18422975|REF_RGD_ID:9068449
8750247	Ctnnb1	catenin beta 1	gene	DOID:10283	prostate cancer		ISO	RGD:733705	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:9927029
8750247	Ctnnb1	catenin beta 1	gene	DOID:10488	imperforate anus		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:25741868|PMID:28330790|PMID:28492532|PMID:33350591
8750247	Ctnnb1	catenin beta 1	gene	DOID:10534	stomach cancer		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8750247	Ctnnb1	catenin beta 1	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:733705	D	RGD:9068941	20220421	RGD		mRNA:altered expression:stomach, tumor (human)	PMID:29069277|REF_RGD_ID:151893464
8750247	Ctnnb1	catenin beta 1	gene	DOID:1059	intellectual disability		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:23033978|PMID:24614104|PMID:24668549|PMID:25326669|PMID:25741868|PMID:2614104|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650|PMID:28856709|PMID:31526516|PMID:34558805|PMID:35935366|PMID:36083290
8750247	Ctnnb1	catenin beta 1	gene	DOID:10629	microphthalmia		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25741868
8750247	Ctnnb1	catenin beta 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1550466	D	RGD:9068941	20200609	RGD		protein:decreased expression:nucleus:	PMID:11226152|REF_RGD_ID:1302533
8750247	Ctnnb1	catenin beta 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733705	D	RGD:9068941	20200609	RGD		protein:increased expression:neuron,cytoplasm:	PMID:15781969|REF_RGD_ID:10395258
8750247	Ctnnb1	catenin beta 1	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:70487	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus	PMID:12610652|REF_RGD_ID:10395276
8750247	Ctnnb1	catenin beta 1	gene	DOID:10907	microcephaly		ISO	RGD:733705	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly	PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28330790|PMID:28333917|PMID:28492532|PMID:28575650|PMID:31526516|PMID:33350591|PMID:36083290
8750247	Ctnnb1	catenin beta 1	gene	DOID:10965	spastic diplegia		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:24668549|PMID:25741868|PMID:2614104|PMID:27915094
8750247	Ctnnb1	catenin beta 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:10213482|PMID:10417756|PMID:10597262|PMID:11943721|PMID:12466115|PMID:16967453|PMID:21163964|PMID:22142829|PMID:22158988|PMID:22722829|PMID:22820256|PMID:22832581|PMID:22832583|PMID:24332040|PMID:24413733|PMID:24436047|PMID:27543871|PMID:27993330|PMID:28069929|PMID:28726821|PMID:29435196|PMID:30699286|PMID:30972907|PMID:31802000|PMID:31857074|PMID:32601913|PMID:34922552|PMID:35101336|PMID:38421446
8750247	Ctnnb1	catenin beta 1	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:733705	D	RGD:9068941	20200609	RGD			PMID:17175927|REF_RGD_ID:2289829
8750247	Ctnnb1	catenin beta 1	gene	DOID:1115	sarcoma		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8750247	Ctnnb1	catenin beta 1	gene	DOID:11476	osteoporosis		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:25741868|PMID:28330790|PMID:28492532|PMID:33350591
8750247	Ctnnb1	catenin beta 1	gene	DOID:11782	astigmatism		ISO	RGD:733705	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28492532|PMID:28575650|PMID:36083290
8750247	Ctnnb1	catenin beta 1	gene	DOID:11830	myopia		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
8750247	Ctnnb1	catenin beta 1	gene	DOID:11836	clubfoot		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
8750247	Ctnnb1	catenin beta 1	gene	DOID:11984	hypertrophic cardiomyopathy	treatment	ISO	RGD:1550466	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:myocyte:	PMID:14993121|REF_RGD_ID:1598718
8750247	Ctnnb1	catenin beta 1	gene	DOID:12215	oligohydramnios		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868|PMID:28330790|PMID:28492532|PMID:33350591
8750247	Ctnnb1	catenin beta 1	gene	DOID:12849	autistic disorder		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28330790|PMID:28492532|PMID:33350591
8750247	Ctnnb1	catenin beta 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1550466	D	RGD:9068941	20200609	RGD			PMID:20376467|REF_RGD_ID:13524857
8750247	Ctnnb1	catenin beta 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
8750247	Ctnnb1	catenin beta 1	gene	DOID:1324	lung cancer	treatment	ISO	RGD:733705	D	RGD:9068941	20211210	RGD		human cells in mouse model	PMID:32051824|REF_RGD_ID:150530284
8750247	Ctnnb1	catenin beta 1	gene	DOID:13366	Stiff-Person syndrome		ISO	RGD:733705	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Stiff-man syndrome, congenital	PMID:10192393|PMID:10391090|PMID:25157968|PMID:26619011
8750247	Ctnnb1	catenin beta 1	gene	DOID:13620	patent foramen ovale		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868|PMID:28330790|PMID:28492532|PMID:33350591
8750247	Ctnnb1	catenin beta 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
8750247	Ctnnb1	catenin beta 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:733705	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:10213482|PMID:10347231|PMID:10597262|PMID:10597266|PMID:10698519|PMID:11196159|PMID:11309340|PMID:11943721|PMID:12466115|PMID:12824913|PMID:15064718|PMID:15133491|PMID:15579438|PMID:16967453|PMID:17558858|PMID:17721184|PMID:17905526|PMID:18282277|PMID:18832571|PMID:20197769|PMID:20232483|PMID:21163964|PMID:21323417|PMID:22142829|PMID:22158988|PMID:22722829|PMID:22815287|PMID:22820256|PMID:22832581|PMID:22832583|PMID:24332040|PMID:24413733|PMID:24436047|PMID:25341748|PMID:25431235|PMID:26171757|PMID:26686699|PMID:26815163|PMID:27543871|PMID:27993330|PMID:28069929|PMID:28726821|PMID:28912153|PMID:29106415|PMID:29435196|PMID:30617281|PMID:30699286|PMID:30972907|PMID:31802000|PMID:31857074|PMID:32099073|PMID:32601913|PMID:33914771|PMID:34166060|PMID:34185076|PMID:34922552|PMID:35101336|PMID:38421446|PMID:9065403|PMID:9419974|PMID:9537226
8750247	Ctnnb1	catenin beta 1	gene	DOID:1682	congenital heart disease		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	
8750247	Ctnnb1	catenin beta 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:733705	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:22784439
8750247	Ctnnb1	catenin beta 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18223216
8750247	Ctnnb1	catenin beta 1	gene	DOID:182	calcinosis		ISO	RGD:733705	D	RGD:9068941	20200609	RGD		protein:increased expression:dermis:	PMID:18422975|REF_RGD_ID:9068449
8750247	Ctnnb1	catenin beta 1	gene	DOID:1826	epilepsy		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8750247	Ctnnb1	catenin beta 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
8750247	Ctnnb1	catenin beta 1	gene	DOID:1911	endodermal sinus tumor		ISO	RGD:733705	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased activity:tumor:high expression in 100%, increased nuclear accumulation in 50-70% of tumors	PMID:16822086|REF_RGD_ID:2298800
8750247	Ctnnb1	catenin beta 1	gene	DOID:1936	atherosclerosis	ameliorates	ISO	RGD:1550466	D	RGD:9068941	20230330	RGD			PMID:35854140|REF_RGD_ID:242905195
8750247	Ctnnb1	catenin beta 1	gene	DOID:1969	cerebral palsy		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:24668549|PMID:25741868|PMID:2614104|PMID:27915094
8750247	Ctnnb1	catenin beta 1	gene	DOID:2043	hepatitis B		ISO	RGD:733705	D	RGD:9068941	20210910	RGD		associated with hepatocellular carcinoma;protein:increased expression:liver (human)	PMID:25536643|REF_RGD_ID:150429591
8750247	Ctnnb1	catenin beta 1	gene	DOID:2154	nephroblastoma		ISO	RGD:733705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: WILMS TUMOR	PMID:10597266|PMID:12824913|PMID:16140927|PMID:17558858|PMID:17905526|PMID:18282277|PMID:20197769|PMID:20232483|PMID:21084400|PMID:21323417|PMID:22142829|PMID:24332040|PMID:24436047|PMID:24747642|PMID:25341748|PMID:25490274|PMID:25743702|PMID:26171757|PMID:26686699|PMID:27165744|PMID:27993330|PMID:28912153|PMID:29435196|PMID:30617281|PMID:30699286|PMID:31802000|PMID:32099073|PMID:32601913|PMID:34166060|PMID:34410225|PMID:35101336|PMID:38917236|PMID:9065402
8750247	Ctnnb1	catenin beta 1	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Head-banging	PMID:25741868
8750247	Ctnnb1	catenin beta 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:70487	D	RGD:9068941	20200609	RGD		DNA:mutation	PMID:16886601|REF_RGD_ID:1599637
8750247	Ctnnb1	catenin beta 1	gene	DOID:2394	ovarian cancer		ISO	RGD:733705	D	RGD:7240710	20190213	OMIM			
8750247	Ctnnb1	catenin beta 1	gene	DOID:2394	ovarian cancer		ISO	RGD:733705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:11943721|PMID:12466115|PMID:16258095|PMID:16967453|PMID:17258789|PMID:21163964|PMID:22158988|PMID:22653804|PMID:22832581|PMID:22832583|PMID:23033978|PMID:23765252|PMID:24413733|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:27993330|PMID:28069929|PMID:28333917|PMID:28492532|PMID:28575650|PMID:28726821|PMID:29435196|PMID:29753700|PMID:30326146|PMID:30699286|PMID:30972907|PMID:31526516|PMID:31802000|PMID:32601913|PMID:32672484|PMID:9065403|PMID:9537226
8750247	Ctnnb1	catenin beta 1	gene	DOID:2526	prostate adenocarcinoma		ISO	RGD:8600640	D	RGD:9068941	20250109	ClinVar		ClinVar Annotator: match by term: Prostate adenocarcinoma	PMID:10192393|PMID:25741868|PMID:26619011
8750247	Ctnnb1	catenin beta 1	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:733705	D	RGD:9068941	20200609	RGD			PMID:16426728|PMID:17363521|REF_RGD_ID:2289818|REF_RGD_ID:2298486
8750247	Ctnnb1	catenin beta 1	gene	DOID:289	endometriosis		ISO	RGD:733705	D	RGD:9068941	20210910	RGD		protein:increased expression:endometrium, epithelium, stroma (human)	PMID:29462326|REF_RGD_ID:150429593
8750247	Ctnnb1	catenin beta 1	gene	DOID:299	adenocarcinoma		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10965019|PMID:14507667|PMID:15459021
8750247	Ctnnb1	catenin beta 1	gene	DOID:2999	granulosa cell tumor		ISO	RGD:1550466	D	RGD:9068941	20200609	RGD			PMID:16488995|REF_RGD_ID:1643593
8750247	Ctnnb1	catenin beta 1	gene	DOID:2999	granulosa cell tumor		ISO	RGD:1550466	D	RGD:9068941	20220825	MouseDO			
8750247	Ctnnb1	catenin beta 1	gene	DOID:3070	high grade glioma		ISO	RGD:733705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Glioma | ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:10597266|PMID:12824913|PMID:17558858|PMID:17905526|PMID:18282277|PMID:20197769|PMID:20232483|PMID:21323417|PMID:22142829|PMID:24332040|PMID:24436047|PMID:24614104|PMID:24668549|PMID:25326669|PMID:25341748|PMID:25741868|PMID:26171757|PMID:26686699|PMID:27915094|PMID:27993330|PMID:28514307|PMID:28912153|PMID:29435196|PMID:30617281|PMID:30699286|PMID:31802000|PMID:32099073|PMID:32601913|PMID:34166060|PMID:35101336
8750247	Ctnnb1	catenin beta 1	gene	DOID:3121	gallbladder cancer		ISO	RGD:733705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gallbladder cancer	PMID:10597266|PMID:12824913|PMID:17558858|PMID:17905526|PMID:18282277|PMID:20197769|PMID:20232483|PMID:21323417|PMID:22142829|PMID:24332040|PMID:24436047|PMID:25341748|PMID:26171757|PMID:26686699|PMID:27993330|PMID:28912153|PMID:29435196|PMID:30617281|PMID:30699286|PMID:31802000|PMID:32099073|PMID:32601913|PMID:34166060|PMID:35101336
8750247	Ctnnb1	catenin beta 1	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:733705	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma	PMID:10597266|PMID:11943721|PMID:12466115|PMID:12824913|PMID:15133491|PMID:15579438|PMID:16967453|PMID:17558858|PMID:17721184|PMID:17905526|PMID:18282277|PMID:18832571|PMID:20197769|PMID:20232483|PMID:21323417|PMID:22142829|PMID:22158988|PMID:24332040|PMID:24413733|PMID:24436047|PMID:24735922|PMID:25341748|PMID:25741868|PMID:26171757|PMID:26686699|PMID:26815163|PMID:27993330|PMID:28069929|PMID:28492532|PMID:28912153|PMID:29435196|PMID:30617281|PMID:30699286|PMID:30972907|PMID:31802000|PMID:31857074|PMID:32099073|PMID:32601913|PMID:32672484|PMID:32752153|PMID:33914771|PMID:34166060|PMID:34185076|PMID:34538872|PMID:35101336|PMID:39991945|PMID:9065403|PMID:9419974
8750247	Ctnnb1	catenin beta 1	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:733705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma	PMID:10213482|PMID:10597262|PMID:11955436|PMID:12000790|PMID:12466115|PMID:21163964|PMID:22142829|PMID:22722829|PMID:22820256|PMID:22832581|PMID:22832583|PMID:24332040|PMID:24413733|PMID:24436047|PMID:27543871|PMID:27993330|PMID:28069929|PMID:28726821|PMID:29435196|PMID:30617281|PMID:30699286|PMID:31802000|PMID:31857074|PMID:32601913|PMID:34166060|PMID:34922552|PMID:35101336|PMID:38421446|PMID:9419974
8750247	Ctnnb1	catenin beta 1	gene	DOID:3307	teratoma		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Teratoma	PMID:25741868
8750247	Ctnnb1	catenin beta 1	gene	DOID:3457	invasive lobular carcinoma		ISO	RGD:733705	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast	PMID:17721269|REF_RGD_ID:2289814
8750247	Ctnnb1	catenin beta 1	gene	DOID:3840	craniopharyngioma		ISO	RGD:733705	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413733
8750247	Ctnnb1	catenin beta 1	gene	DOID:3846	adamantinous craniopharyngioma		ISO	RGD:733705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Adamantinous craniopharyngioma	PMID:10213482|PMID:10347231|PMID:10597262|PMID:11196159|PMID:11943721|PMID:12466115|PMID:16258095|PMID:16967453|PMID:17258789|PMID:21163964|PMID:22142829|PMID:22158988|PMID:22653804|PMID:22722829|PMID:22815287|PMID:22820256|PMID:22832581|PMID:22832583|PMID:23765252|PMID:24332040|PMID:24413733|PMID:24436047|PMID:25741868|PMID:27543871|PMID:27993330|PMID:28069929|PMID:28726821|PMID:29106415|PMID:29435196|PMID:29753700|PMID:30326146|PMID:30699286|PMID:30972907|PMID:31802000|PMID:31857074|PMID:32601913|PMID:32672484|PMID:32752153|PMID:34166060|PMID:34538872|PMID:34922552|PMID:35101336|PMID:38421446|PMID:39991945|PMID:9065403|PMID:9537226
8750247	Ctnnb1	catenin beta 1	gene	DOID:3905	lung carcinoma	disease_progression	ISO	RGD:70487	D	RGD:9068941	20200609	RGD		DNA, protein:mutations, increased expression:cytoplasm, nucleus:multiple	PMID:17639448|REF_RGD_ID:2289843
8750247	Ctnnb1	catenin beta 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8750247	Ctnnb1	catenin beta 1	gene	DOID:3907	lung squamous cell carcinoma	disease_progression	ISO	RGD:733705	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:27498289|REF_RGD_ID:13434929
8750247	Ctnnb1	catenin beta 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:8600640	D	RGD:9068941	20250109	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung	PMID:10192393|PMID:25741868|PMID:26619011
8750247	Ctnnb1	catenin beta 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:8600640	D	RGD:9068941	20250109	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:10192393|PMID:26619011
8750247	Ctnnb1	catenin beta 1	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:733705	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Adrenal cortex carcinoma	PMID:16140927|PMID:22142829|PMID:24332040|PMID:24436047|PMID:24747642|PMID:25490274|PMID:25743702|PMID:2574372|PMID:26317117|PMID:27165744|PMID:27993330|PMID:29435196|PMID:30617281|PMID:30699286|PMID:34166060
8750247	Ctnnb1	catenin beta 1	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:733705	D	RGD:9068941	20200609	RGD		mRNA:increased expression:thyroid	PMID:28677753|REF_RGD_ID:13792605
8750247	Ctnnb1	catenin beta 1	gene	DOID:3969	papillary thyroid carcinoma	disease_progression	ISO	RGD:733705	D	RGD:9068941	20200609	RGD		mRNA:increased expression:thyroid	PMID:29498921|REF_RGD_ID:13792558
8750247	Ctnnb1	catenin beta 1	gene	DOID:420	hypertrichosis		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28492532|PMID:28575650
8750247	Ctnnb1	catenin beta 1	gene	DOID:423	myopathy		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868
8750247	Ctnnb1	catenin beta 1	gene	DOID:4362	cervical cancer		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8750247	Ctnnb1	catenin beta 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:733705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RENAL CELL CARCINOMA	
8750247	Ctnnb1	catenin beta 1	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:733705	D	RGD:9068941	20200609	RGD			PMID:15330191|REF_RGD_ID:2289794
8750247	Ctnnb1	catenin beta 1	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:733705	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:11831984|REF_RGD_ID:2289835
8750247	Ctnnb1	catenin beta 1	gene	DOID:480	movement disease		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
8750247	Ctnnb1	catenin beta 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8750247	Ctnnb1	catenin beta 1	gene	DOID:5015	fibrolamellar carcinoma		ISO	RGD:733705	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:exon:	PMID:19101982|REF_RGD_ID:14402052
8750247	Ctnnb1	catenin beta 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733705	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8750247	Ctnnb1	catenin beta 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21047994
8750247	Ctnnb1	catenin beta 1	gene	DOID:5327	retinal detachment		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal detachment	PMID:25741868|PMID:28330790|PMID:28492532|PMID:33350591
8750247	Ctnnb1	catenin beta 1	gene	DOID:535	sleep disorder		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868
8750247	Ctnnb1	catenin beta 1	gene	DOID:5374	pilomatrixoma		ISO	RGD:733705	D	RGD:7240710	20180130	OMIM			
8750247	Ctnnb1	catenin beta 1	gene	DOID:5374	pilomatrixoma		ISO	RGD:733705	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Pilomatricoma | ClinVar Annotator: match by term: Pilomatrixoma	PMID:10192393|PMID:10391090|PMID:10666372|PMID:23033978|PMID:24614104|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26822237|PMID:27915094|PMID:27959697|PMID:28333917|PMID:28492532|PMID:28575650|PMID:31526516|PMID:32555735|PMID:35641310|PMID:9065402|PMID:9294210|PMID:9927029
8750247	Ctnnb1	catenin beta 1	gene	DOID:5374	pilomatrixoma		ISO	RGD:733705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pilomatricoma | ClinVar Annotator: match by term: Pilomatrixoma	PMID:10213482|PMID:10347231|PMID:10597262|PMID:11196159|PMID:11943721|PMID:12466115|PMID:16258095|PMID:16967453|PMID:17258789|PMID:21163964|PMID:22142829|PMID:22158988|PMID:22653804|PMID:22722829|PMID:22815287|PMID:22820256|PMID:22832581|PMID:22832583|PMID:23033978|PMID:23765252|PMID:24332040|PMID:24413733|PMID:24436047|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27543871|PMID:27915094|PMID:27993330|PMID:28069929|PMID:28333917|PMID:28492532|PMID:28575650|PMID:28726821|PMID:29106415|PMID:29435196|PMID:29753700|PMID:30326146|PMID:30699286|PMID:30972907|PMID:31526516|PMID:31802000|PMID:31857074|PMID:32601913|PMID:32672484|PMID:32752153|PMID:34166060|PMID:34538872|PMID:34922552|PMID:35101336|PMID:38421446|PMID:39991945|PMID:9065403|PMID:9537226
8750247	Ctnnb1	catenin beta 1	gene	DOID:540	strabismus		ISO	RGD:733705	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital strabismus | ClinVar Annotator: match by term: Strabismus	PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28492532|PMID:28575650|PMID:36083290
8750247	Ctnnb1	catenin beta 1	gene	DOID:543	dystonia		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28492532|PMID:28575650|PMID:31526516
8750247	Ctnnb1	catenin beta 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733705	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:34019859
8750247	Ctnnb1	catenin beta 1	gene	DOID:57	aortic valve insufficiency		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic regurgitation	PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650
8750247	Ctnnb1	catenin beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750247	Ctnnb1	catenin beta 1	gene	DOID:5940	malignant peripheral nerve sheath tumor		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant peripheral nerve sheath tumor	PMID:15579438|PMID:24735922|PMID:27993330|PMID:28069929|PMID:28726821|PMID:31857074
8750247	Ctnnb1	catenin beta 1	gene	DOID:607	paraplegia		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:25741868|PMID:27915094
8750247	Ctnnb1	catenin beta 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8750247	Ctnnb1	catenin beta 1	gene	DOID:630	genetic disease		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21903672|PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26502894|PMID:27848944|PMID:27915094|PMID:28191889|PMID:28330790|PMID:28492532|PMID:28575650|PMID:28856709|PMID:30640974|PMID:33004838|PMID:33350591|PMID:34558805|PMID:35935366|PMID:36083290|PMID:36790797
8750247	Ctnnb1	catenin beta 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:28492532|PMID:28575650|PMID:31526516
8750247	Ctnnb1	catenin beta 1	gene	DOID:657	adenoma		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10223192|PMID:10965019
8750247	Ctnnb1	catenin beta 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733705	D	RGD:7240710	20180130	OMIM			
8750247	Ctnnb1	catenin beta 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733705	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA	PMID:10027390|PMID:10192393|PMID:10391090|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:21903672|PMID:23033978|PMID:23265383|PMID:24614104|PMID:24728327|PMID:24788118|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26502894|PMID:26619011|PMID:26822237|PMID:27915094|PMID:27959697|PMID:28492532|PMID:28575650|PMID:29682453|PMID:30640974|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029
8750247	Ctnnb1	catenin beta 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733705	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: AXIN1-related condition | ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:10027390|PMID:10192393|PMID:10391090|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:21903672|PMID:23033978|PMID:23265383|PMID:24614104|PMID:24728327|PMID:24788118|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26502894|PMID:26619011|PMID:26822237|PMID:27915094|PMID:27959697|PMID:28333917|PMID:28492532|PMID:28575650|PMID:29682453|PMID:30640974|PMID:31526516|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029
8750247	Ctnnb1	catenin beta 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733705	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: Hepatoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA	PMID:10435629|PMID:21903672|PMID:23033978|PMID:24614104|PMID:24728327|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26502894|PMID:26822237|PMID:27915094|PMID:27959697|PMID:28333917|PMID:28492532|PMID:28575650|PMID:29682453|PMID:30640974|PMID:31526516|PMID:32555735|PMID:35641310
8750247	Ctnnb1	catenin beta 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA	PMID:10597266|PMID:12824913|PMID:15133491|PMID:17558858|PMID:17721184|PMID:17905526|PMID:18282277|PMID:18832571|PMID:20197769|PMID:20232483|PMID:21323417|PMID:21903672|PMID:22142829|PMID:23033978|PMID:24332040|PMID:24436047|PMID:24614104|PMID:25326669|PMID:25341748|PMID:25741868|PMID:26171757|PMID:26350204|PMID:26502894|PMID:26686699|PMID:26815163|PMID:27915094|PMID:27993330|PMID:28333917|PMID:28492532|PMID:28575650|PMID:28912153|PMID:29435196|PMID:30617281|PMID:30640974|PMID:30699286|PMID:31526516|PMID:31802000|PMID:32099073|PMID:32601913|PMID:33914771|PMID:34166060|PMID:34185076|PMID:35101336|PMID:9065403|PMID:9419974
8750247	Ctnnb1	catenin beta 1	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:733705	D	RGD:9068941	20210910	RGD		DNA:missense mutations:exon 3:multiple (human)	PMID:27276713|REF_RGD_ID:150429592
8750247	Ctnnb1	catenin beta 1	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:733705	D	RGD:9068941	20200609	RGD		DNA:Mutations:exon:	PMID:19101982|REF_RGD_ID:14402052
8750247	Ctnnb1	catenin beta 1	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:733705	D	RGD:9068941	20200609	RGD		associated with Hepatitis B, Chronic,DNA:SNP, haplotype: :rs3864004 (human)	PMID:26968103|REF_RGD_ID:14402039
8750247	Ctnnb1	catenin beta 1	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:733705	D	RGD:9068941	20200609	RGD		associated with hepatitis B;DNA:SNPs: :rs3864004,rs11564475(human)	PMID:28328801|REF_RGD_ID:14402040
8750247	Ctnnb1	catenin beta 1	gene	DOID:687	hepatoblastoma		ISO	RGD:733705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEPATOBLASTOMA | ClinVar Annotator: match by term: Hepatoblastoma	PMID:10398436|PMID:10487827|PMID:10698519|PMID:11943721|PMID:12200448|PMID:12466115|PMID:12799363|PMID:16140927|PMID:16967453|PMID:22142829|PMID:22158988|PMID:22722829|PMID:22749188|PMID:24322718|PMID:24332040|PMID:24413733|PMID:24436047|PMID:24735922|PMID:24747642|PMID:25135868|PMID:25490274|PMID:25741868|PMID:2574372|PMID:26815163|PMID:27165744|PMID:27468715|PMID:27993330|PMID:28069929|PMID:28726821|PMID:29435196|PMID:30699286|PMID:30972907|PMID:31802000|PMID:32672484|PMID:32752153|PMID:33994539|PMID:34166060|PMID:34538872|PMID:35101336|PMID:39991945
8750247	Ctnnb1	catenin beta 1	gene	DOID:767	muscular atrophy		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18467435
8750247	Ctnnb1	catenin beta 1	gene	DOID:8719	in situ carcinoma		ISO	RGD:733705	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast	PMID:9496256|REF_RGD_ID:2289836
8750247	Ctnnb1	catenin beta 1	gene	DOID:8923	skin melanoma		ISO	RGD:8600640	D	RGD:9068941	20250109	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma	PMID:10192393|PMID:25741868|PMID:26619011
8750247	Ctnnb1	catenin beta 1	gene	DOID:8927	learning disability		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650
8750247	Ctnnb1	catenin beta 1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:733705	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;protein:decreased expression	PMID:17908479|REF_RGD_ID:2289813
8750247	Ctnnb1	catenin beta 1	gene	DOID:9000156	Metaplasia	exacerbates	ISO	RGD:733705	D	RGD:9068941	20210910	RGD		associated with Helicobacter Infections;protein:increased expression:body stomach, stomach pyloric antrum, nucleus (human)	PMID:19369517|REF_RGD_ID:150429594
8750247	Ctnnb1	catenin beta 1	gene	DOID:9000362	Adrenal Gland Neoplasms		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24747643
8750247	Ctnnb1	catenin beta 1	gene	DOID:9000784	Fibrosis		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
8750247	Ctnnb1	catenin beta 1	gene	DOID:9000915	Angiofibroma		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Juvenile nasopharyngeal angiofibroma	PMID:11943721|PMID:12466115|PMID:16967453|PMID:21163964|PMID:22158988|PMID:22722829|PMID:22820256|PMID:22832581|PMID:22832583|PMID:24413733|PMID:25741868|PMID:27543871|PMID:27993330|PMID:28069929|PMID:28726821|PMID:29435196|PMID:30699286|PMID:30972907|PMID:32752153|PMID:33152694|PMID:34185076
8750247	Ctnnb1	catenin beta 1	gene	DOID:9000918	Disease Progression		ISO	RGD:733705	D	RGD:9068941	20211210	CTD		CTD Direct Evidence: marker/mechanism	PMID:27738331|PMID:29106415|PMID:34019859
8750247	Ctnnb1	catenin beta 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29106415
8750247	Ctnnb1	catenin beta 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:733705	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms	PMID:18008331|REF_RGD_ID:2289488
8750247	Ctnnb1	catenin beta 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28492532|PMID:28575650
8750247	Ctnnb1	catenin beta 1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11280770|PMID:20118494|PMID:21147764
8750247	Ctnnb1	catenin beta 1	gene	DOID:9001722	Dysarthria		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:24668549|PMID:25741868|PMID:2614104|PMID:27915094
8750247	Ctnnb1	catenin beta 1	gene	DOID:9001834	Peritoneal Neoplasms		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22784439
8750247	Ctnnb1	catenin beta 1	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:733705	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35066776
8750247	Ctnnb1	catenin beta 1	gene	DOID:9002245	Intestinal Neoplasms		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10223192
8750247	Ctnnb1	catenin beta 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1550466	D	RGD:9068941	20200609	RGD			PMID:17638904|REF_RGD_ID:2289815
8750247	Ctnnb1	catenin beta 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17363566|PMID:29610475
8750247	Ctnnb1	catenin beta 1	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:70487	D	RGD:9068941	20200609	RGD		protein:increased expression:cartilage:	PMID:22702043|REF_RGD_ID:10395278
8750247	Ctnnb1	catenin beta 1	gene	DOID:9002362	Hyperkinesis		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkinetic movements	PMID:25741868
8750247	Ctnnb1	catenin beta 1	gene	DOID:9002589	Bone Fractures		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:25741868|PMID:28330790|PMID:28492532|PMID:33350591
8750247	Ctnnb1	catenin beta 1	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:25741868
8750247	Ctnnb1	catenin beta 1	gene	DOID:9002720	Splenomegaly		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868
8750247	Ctnnb1	catenin beta 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian Neoplasms	PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650|PMID:31526516
8750247	Ctnnb1	catenin beta 1	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:733705	D	RGD:9068941	20200609	RGD			PMID:15381903|REF_RGD_ID:2298487
8750247	Ctnnb1	catenin beta 1	gene	DOID:9002801	Recurrence		ISO	RGD:733705	D	RGD:9068941	20211210	CTD		CTD Direct Evidence: marker/mechanism	PMID:34019859
8750247	Ctnnb1	catenin beta 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12628520|PMID:12800193|PMID:14507667|PMID:15459021|PMID:17404573|PMID:18283038|PMID:21081470|PMID:22323126|PMID:9515794
8750247	Ctnnb1	catenin beta 1	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12387456
8750247	Ctnnb1	catenin beta 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:22142829|PMID:24436047|PMID:25741868|PMID:27993330|PMID:28492532|PMID:30617281|PMID:34166060
8750247	Ctnnb1	catenin beta 1	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:733705	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:25061499
8750247	Ctnnb1	catenin beta 1	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:733705	D	RGD:9068941	20250109	RGD		protein:altered localization:cytoplasm	PMID:15863126|REF_RGD_ID:2298488
8750247	Ctnnb1	catenin beta 1	gene	DOID:9003507	Premature Birth		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:28492532|PMID:28575650|PMID:31526516
8750247	Ctnnb1	catenin beta 1	gene	DOID:9003694	Cecal Neoplasms		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14688030
8750247	Ctnnb1	catenin beta 1	gene	DOID:9004108	Fused Kidney		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	PMID:25741868|PMID:28330790|PMID:28492532|PMID:33350591
8750247	Ctnnb1	catenin beta 1	gene	DOID:9004240	Phyllodes Tumor		ISO	RGD:733705	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus	PMID:12898599|REF_RGD_ID:2289832
8750247	Ctnnb1	catenin beta 1	gene	DOID:9004265	Endometrioid Carcinomas		ISO	RGD:733705	D	RGD:9068941	20200609	RGD		DNA:mutations	PMID:17418409|REF_RGD_ID:2289817
8750247	Ctnnb1	catenin beta 1	gene	DOID:9004268	Uterine Neoplasms		ISO	RGD:1550466	D	RGD:9068941	20200609	RGD		protein:decreased phosphorylation, increased expression:uterus, nucleus	PMID:17072826|REF_RGD_ID:2289830
8750247	Ctnnb1	catenin beta 1	gene	DOID:9004301	Solid Pseudopapillary Neoplasm of the Pancreas		ISO	RGD:733705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Solid pseudopapillary neoplasm of the pancreas	PMID:10347231|PMID:11196159|PMID:11943721|PMID:12466115|PMID:16258095|PMID:16967453|PMID:17258789|PMID:21163964|PMID:22142829|PMID:22158988|PMID:22653804|PMID:22815287|PMID:22832581|PMID:22832583|PMID:23765252|PMID:24332040|PMID:24413733|PMID:24436047|PMID:25741868|PMID:27993330|PMID:28069929|PMID:28726821|PMID:29106415|PMID:29435196|PMID:29753700|PMID:30326146|PMID:30699286|PMID:30972907|PMID:31802000|PMID:31857074|PMID:32601913|PMID:32672484|PMID:32752153|PMID:34166060|PMID:34538872|PMID:35101336|PMID:39991945|PMID:9065403|PMID:9537226
8750247	Ctnnb1	catenin beta 1	gene	DOID:9004307	Alazami Syndrome		ISO	RGD:733705	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Alazami syndrome	PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650
8750247	Ctnnb1	catenin beta 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:733705	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650
8750247	Ctnnb1	catenin beta 1	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1550466	D	RGD:9068941	20200609	RGD		protein:increased expression:cytosol:	PMID:11517342|REF_RGD_ID:10395257
8750247	Ctnnb1	catenin beta 1	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:733705	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35066776
8750247	Ctnnb1	catenin beta 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23707762|PMID:26990689
8750247	Ctnnb1	catenin beta 1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
8750247	Ctnnb1	catenin beta 1	gene	DOID:9004866	Ataxia		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650|PMID:31526516
8750247	Ctnnb1	catenin beta 1	gene	DOID:9005077	Joint Instability		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:25741868|PMID:28856709|PMID:34558805|PMID:35935366
8750247	Ctnnb1	catenin beta 1	gene	DOID:9005100	Aberrant Crypt Foci		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10965019|PMID:12351151|PMID:14507667
8750247	Ctnnb1	catenin beta 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18372914
8750247	Ctnnb1	catenin beta 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1550466	D	RGD:9068941	20200609	RGD		DNA:missense mutations: :p.S33Y, p.S45F	PMID:18060046|REF_RGD_ID:2289674
8750247	Ctnnb1	catenin beta 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1550466	D	RGD:9068941	20200609	RGD		protein:increased expression:mammary gland	PMID:17510243|REF_RGD_ID:2289816
8750247	Ctnnb1	catenin beta 1	gene	DOID:9005446	Mandibular Neoplasms		ISO	RGD:70487	D	RGD:9068941	20200609	RGD		mRNA:increased expression:small intestine	PMID:17259108|REF_RGD_ID:1599632
8750247	Ctnnb1	catenin beta 1	gene	DOID:9005527	No-Reflow Phenomenon		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16824628
8750247	Ctnnb1	catenin beta 1	gene	DOID:9005564	Hepatoblastoma Caused By Somatic Mutation		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HEPATOBLASTOMA, SOMATIC	PMID:10417756|PMID:11054718|PMID:11943721|PMID:12466115|PMID:15221941|PMID:15891929|PMID:16967453|PMID:19384065|PMID:20840677|PMID:22158988|PMID:24166495|PMID:24413733|PMID:26927026|PMID:27993330|PMID:28069929|PMID:28500561|PMID:29435196|PMID:29887214|PMID:30074466|PMID:30972907|PMID:32125720|PMID:39451213|PMID:9671767|PMID:9927029
8750247	Ctnnb1	catenin beta 1	gene	DOID:9005582	Adrenal Cortex Neoplasms		ISO	RGD:733705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Adrenal cortex neoplasm	PMID:10213482|PMID:10597262|PMID:12466115|PMID:16140927|PMID:21163964|PMID:22142829|PMID:22722829|PMID:22820256|PMID:22832581|PMID:22832583|PMID:24332040|PMID:24413733|PMID:24436047|PMID:24747642|PMID:25490274|PMID:25743702|PMID:26815163|PMID:27165744|PMID:27468715|PMID:27543871|PMID:27993330|PMID:28069929|PMID:28726821|PMID:29435196|PMID:30699286|PMID:31802000|PMID:31857074|PMID:32601913|PMID:34922552|PMID:35101336|PMID:38421446
8750247	Ctnnb1	catenin beta 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733705	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28330790|PMID:28492532|PMID:28575650|PMID:31526516|PMID:33350591|PMID:36083290
8750247	Ctnnb1	catenin beta 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
8750247	Ctnnb1	catenin beta 1	gene	DOID:9006332	Vascular Calcification		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23223575
8750247	Ctnnb1	catenin beta 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:733705	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8750247	Ctnnb1	catenin beta 1	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:70487	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:heart	PMID:25586361|REF_RGD_ID:13524855
8750247	Ctnnb1	catenin beta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:17576681|PMID:28492532|PMID:9536098
8750247	Ctnnb1	catenin beta 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
8750247	Ctnnb1	catenin beta 1	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
8750247	Ctnnb1	catenin beta 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10467420|PMID:21047994
8750247	Ctnnb1	catenin beta 1	gene	DOID:9007284	Precocious Puberty		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868
8750247	Ctnnb1	catenin beta 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19679878
8750247	Ctnnb1	catenin beta 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
8750247	Ctnnb1	catenin beta 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29626521
8750247	Ctnnb1	catenin beta 1	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22975441
8750247	Ctnnb1	catenin beta 1	gene	DOID:9007661	Dwarfism		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650|PMID:31526516
8750247	Ctnnb1	catenin beta 1	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:733705	D	RGD:9068941	20250109	RGD		protein:increased expression:nucleus	PMID:17349568|REF_RGD_ID:2289828
8750247	Ctnnb1	catenin beta 1	gene	DOID:9007715	Endometrial Neoplasms	disease_progression	ISO	RGD:733705	D	RGD:9068941	20200609	RGD			PMID:16803534|REF_RGD_ID:2298485
8750247	Ctnnb1	catenin beta 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22142829|PMID:23033978|PMID:24436047|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27848944|PMID:27915094|PMID:27993330|PMID:28333917|PMID:28492532|PMID:28575650|PMID:28856709|PMID:30617281|PMID:31526516|PMID:34166060|PMID:34558805|PMID:35935366|PMID:36083290|PMID:36790797
8750247	Ctnnb1	catenin beta 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:733705	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:10965019|PMID:12907644|PMID:21291235|PMID:25280562
8750247	Ctnnb1	catenin beta 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:733705	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650
8750247	Ctnnb1	catenin beta 1	gene	DOID:9008675	Dyskinesias		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:25741868
8750247	Ctnnb1	catenin beta 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11262227
8750247	Ctnnb1	catenin beta 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12165863|PMID:25330770
8750247	Ctnnb1	catenin beta 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733705	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast	PMID:17223851|REF_RGD_ID:2289792
8750247	Ctnnb1	catenin beta 1	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:733705	D	RGD:9068941	20200609	RGD			PMID:16707478|REF_RGD_ID:2289831
8750247	Ctnnb1	catenin beta 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8750247	Ctnnb1	catenin beta 1	gene	DOID:9009116	Urinary Bladder Neoplasm		ISO	RGD:733705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Urinary Bladder Neoplasms	PMID:10213482|PMID:10597262|PMID:12466115|PMID:21163964|PMID:22142829|PMID:22722829|PMID:22820256|PMID:22832581|PMID:22832583|PMID:24332040|PMID:24413733|PMID:24436047|PMID:27543871|PMID:27993330|PMID:28069929|PMID:28726821|PMID:29435196|PMID:30699286|PMID:31802000|PMID:31857074|PMID:32601913|PMID:34922552|PMID:35101336|PMID:38421446
8750247	Ctnnb1	catenin beta 1	gene	DOID:9256	colorectal cancer		ISO	RGD:733705	D	RGD:7240710	20200226	OMIM			
8750247	Ctnnb1	catenin beta 1	gene	DOID:9256	colorectal cancer		ISO	RGD:733705	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:28492532|PMID:28575650
8750247	Ctnnb1	catenin beta 1	gene	DOID:9256	colorectal cancer		ISO	RGD:733705	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:23033978|PMID:25326669|PMID:25741868|PMID:28492532
8750247	Ctnnb1	catenin beta 1	gene	DOID:9256	colorectal cancer		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10192393|PMID:12466115|PMID:16140927|PMID:21084400|PMID:22142829|PMID:23033978|PMID:24332040|PMID:24413733|PMID:24436047|PMID:24614104|PMID:24747642|PMID:25326669|PMID:25490274|PMID:25741868|PMID:25743702|PMID:26350204|PMID:26822237|PMID:27165744|PMID:27915094|PMID:27993330|PMID:28069929|PMID:28333917|PMID:28492532|PMID:28575650|PMID:29435196|PMID:30699286|PMID:31526516|PMID:34410225|PMID:35101336|PMID:38917236|PMID:9065402|PMID:9294210
8750247	Ctnnb1	catenin beta 1	gene	DOID:9256	colorectal cancer		ISO	RGD:733705	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12466115|PMID:23033978|PMID:24413733|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:27993330|PMID:28069929|PMID:28333917|PMID:28492532|PMID:28575650|PMID:29435196|PMID:31526516
8750247	Ctnnb1	catenin beta 1	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:70487	D	RGD:9068941	20200609	RGD		protein:increased expression:cytoplasm, nucleus	PMID:17893236|REF_RGD_ID:2289840
8750247	Ctnnb1	catenin beta 1	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:733705	D	RGD:9068941	20220728	RGD		Human cells in mouse model	PMID:32682784|REF_RGD_ID:153297782
8750247	Ctnnb1	catenin beta 1	gene	DOID:9827	radioulnar synostosis		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Radioulnar synostosis	PMID:25741868|PMID:28330790|PMID:28492532|PMID:33350591
8750247	Ctnnb1	catenin beta 1	gene	DOID:9834	hyperopia		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:28492532|PMID:28575650|PMID:31526516
8750247	Ctnnb1	catenin beta 1	gene	DOID:9970	obesity		ISO	RGD:733705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650
8750247	Ctnnb1	catenin beta 1	gene	DOID:9976	heroin dependence		ISO	RGD:70487	D	RGD:9068941	20241205	RGD		protein:decreased expression:medial prefrontal cortex (rat)	PMID:19160503|REF_RGD_ID:529195970
8750291	Skap1	src kinase associated phosphoprotein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750291	Skap1	src kinase associated phosphoprotein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8750291	Skap1	src kinase associated phosphoprotein 1	gene	DOID:1324	lung cancer		ISO	RGD:1354438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8750291	Skap1	src kinase associated phosphoprotein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8750291	Skap1	src kinase associated phosphoprotein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1354438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8750291	Skap1	src kinase associated phosphoprotein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750291	Skap1	src kinase associated phosphoprotein 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1354438	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20852632
8750291	Skap1	src kinase associated phosphoprotein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8750291	Skap1	src kinase associated phosphoprotein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8750291	Skap1	src kinase associated phosphoprotein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8750318	Tax1bp1	Tax1 binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8750318	Tax1bp1	Tax1 binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1348047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8750318	Tax1bp1	Tax1 binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8750318	Tax1bp1	Tax1 binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348047	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8750318	Tax1bp1	Tax1 binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750318	Tax1bp1	Tax1 binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8750355	Rell1	RELT like 1	gene	DOID:1115	sarcoma		ISO	RGD:1625842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8750355	Rell1	RELT like 1	gene	DOID:3275	thymoma		ISO	RGD:1625842	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8750355	Rell1	RELT like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1625842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750355	Rell1	RELT like 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1625842	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8750355	Rell1	RELT like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1625842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8750369	S100a11	S100 calcium binding protein A11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750369	S100a11	S100 calcium binding protein A11	gene	DOID:0080600	COVID-19		ISO	RGD:1323591	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:CD4+ T cells (human)	PMID:32377375|REF_RGD_ID:32716422
8750369	S100a11	S100 calcium binding protein A11	gene	DOID:5041	esophageal cancer		ISO	RGD:1323591	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8750369	S100a11	S100 calcium binding protein A11	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8750369	S100a11	S100 calcium binding protein A11	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1323591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20388789
8750369	S100a11	S100 calcium binding protein A11	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1323591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8750369	S100a11	S100 calcium binding protein A11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:0050562	West syndrome		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypsarrhythmia	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:0050847	sleep apnea		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:25741868
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1342489	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders	PMID:25741868|PMID:28492532
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:0060135	apraxia		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apraxia	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:0060260	ptosis		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28492532
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:0060261	congenital ptosis		ISO	RGD:1342489	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital ptosis	PMID:25741868
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:0080072	intestinal pseudo-obstruction		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intestinal pseudo-obstruction	PMID:25741868
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: complex neurodevelopmental disorder	PMID:25741868|PMID:28492532|PMID:33004838|PMID:38438524
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:1059	intellectual disability		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:22495309|PMID:23160955|PMID:24998929|PMID:25741868|PMID:26789910|PMID:28492532
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:10908	hydrocephalus		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:28492532
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:1115	sarcoma		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:11963	esophagitis		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophagitis	PMID:25741868
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:12849	autistic disorder		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset | ClinVar Annotator: match by term: CHD8-Related Disorders | ClinVar Annotator: match by term: CHD8-related disorder	PMID:22495309|PMID:23160955|PMID:25741868|PMID:28492532|PMID:31721432|PMID:32951261|PMID:33352116|PMID:34088660
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:12859	choreatic disease		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:1324	lung cancer		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:14213	hypophosphatasia		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Decreased circulating alkaline phosphatase activity	PMID:25741868|PMID:28492532
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:1657	ventricular septal defect		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:1826	epilepsy		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizure	PMID:22495309|PMID:24998929|PMID:25741868|PMID:26789910|PMID:28492532
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:1827	generalized epilepsy		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:1909	melanoma		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:1969	cerebral palsy		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:2030	anxiety disorder		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:25741868
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:2841	asthma		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:3070	high grade glioma		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:3275	thymoma		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:3459	breast carcinoma		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:22495309|PMID:25741868|PMID:28492532
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:480	movement disease		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1342489	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:543	dystonia		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:28492532
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:630	genetic disease		ISO	RGD:1342489	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:18378692|PMID:21447119|PMID:22083958|PMID:22495306|PMID:22495309|PMID:23160955|PMID:23835524|PMID:24267886|PMID:24998929|PMID:25418537|PMID:25741868|PMID:26789910|PMID:27824329|PMID:28263302|PMID:28475857|PMID:28492532|PMID:28600779|PMID:31721432|PMID:32951261|PMID:33352116|PMID:9536098
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:77	gastrointestinal system disease		ISO	RGD:1342489	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24998929
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9000053	Headache		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:25741868|PMID:28492532
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9000443	Intellectual Developmental Disorder with Autism and Macrocephaly		ISO	RGD:1342489	D	RGD:7240710	20220518	OMIM			
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9000443	Intellectual Developmental Disorder with Autism and Macrocephaly		ISO	RGD:1342489	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Autism, susceptibility to, 18 | ClinVar Annotator: match by term: CHD8-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND MACROCEPHALY | ClinVar Annotator: match by term: Intellectual developmental disorder with autism and macrocephaly | ClinVar Annotator: match by term: intellectual developmental disorder with autism and macrocephaly	PMID:18414213|PMID:22495309|PMID:23160955|PMID:24998929|PMID:25326637|PMID:25363760|PMID:25418537|PMID:25741868|PMID:25741869|PMID:26789910|PMID:27824329|PMID:27959697|PMID:28191890|PMID:28475857|PMID:28492532|PMID:28600779|PMID:28714951|PMID:29300386|PMID:29389947|PMID:30564305|PMID:30670789|PMID:31001818|PMID:31130284|PMID:31721432|PMID:31980904|PMID:31981491|PMID:32309624|PMID:32951261|PMID:33004838|PMID:33352116|PMID:34088660|PMID:34906502|PMID:35982159|PMID:36182950|PMID:36302072
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9000495	Tremor		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9000727	Syncope		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9001487	Facies		ISO	RGD:1342489	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30670789
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9001733	Tinnitus		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9003133	Hypertelorism		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9003507	Premature Birth		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9003539	Hyperacusis		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9003816	Macrocephaly		ISO	RGD:1342489	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:22495309|PMID:25741868|PMID:28492532
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1342489	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:23160955|PMID:24998929|PMID:25741868|PMID:26789910|PMID:28492532|PMID:31001818|PMID:34088660
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9004751	Nausea		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nausea	PMID:25741868
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9005077	Joint Instability		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1342489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Speech delay	PMID:25741868
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1342489	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9007356	Eczema		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Eczema	PMID:22495309|PMID:23160955|PMID:24998929|PMID:25741868|PMID:26789910
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9007573	Flatfoot		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9007736	Vertigo		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22495309|PMID:25741868|PMID:28492532
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9008582	Developmental Disease		ISO	RGD:1342489	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8750379	Chd8	chromodomain helicase DNA binding protein 8	gene	DOID:9840	esotropia		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
8750443	Gclm	glutamate-cysteine ligase modifier subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750443	Gclm	glutamate-cysteine ligase modifier subunit	gene	DOID:10322	berylliosis		ISO	RGD:731551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16766924
8750443	Gclm	glutamate-cysteine ligase modifier subunit	gene	DOID:3275	thymoma		ISO	RGD:731551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8750443	Gclm	glutamate-cysteine ligase modifier subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:731551	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8750443	Gclm	glutamate-cysteine ligase modifier subunit	gene	DOID:5844	myocardial infarction		ISO	RGD:731551	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	
8750443	Gclm	glutamate-cysteine ligase modifier subunit	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:731551	D	RGD:7240710	20190502	OMIM			
8750443	Gclm	glutamate-cysteine ligase modifier subunit	gene	DOID:6039	uveal melanoma		ISO	RGD:731551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8750443	Gclm	glutamate-cysteine ligase modifier subunit	gene	DOID:8725	vascular dementia	susceptibility	ISO	RGD:731551	D	RGD:9068941	20200609	RGD		associated with stroke;DNA:polymorphism:promoter:-588C>T(human)	PMID:17548779|REF_RGD_ID:10402374
8750443	Gclm	glutamate-cysteine ligase modifier subunit	gene	DOID:9004303	Tubulointerstitial Fibrosis		ISO	RGD:619871	D	RGD:9068941	20200609	RGD			PMID:21152904|REF_RGD_ID:5134352
8750443	Gclm	glutamate-cysteine ligase modifier subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8750443	Gclm	glutamate-cysteine ligase modifier subunit	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:731551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8750443	Gclm	glutamate-cysteine ligase modifier subunit	gene	DOID:9008691	Liver Injury		ISO	RGD:619871	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver:	PMID:24944771|REF_RGD_ID:10402380
8750443	Gclm	glutamate-cysteine ligase modifier subunit	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731551	D	RGD:9068941	20200910	CTD		CTD Direct Evidence: therapeutic	PMID:32715377
8750454	Spag17	sperm associated antigen 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750454	Spag17	sperm associated antigen 17	gene	DOID:0080804	cranioectodermal dysplasia 2		ISO	RGD:1601710	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cranioectodermal dysplasia 2	
8750454	Spag17	sperm associated antigen 17	gene	DOID:0112337	spermatogenic failure 55		ISO	RGD:1601710	D	RGD:7240710	20210707	OMIM			
8750454	Spag17	sperm associated antigen 17	gene	DOID:0112337	spermatogenic failure 55		ISO	RGD:1601710	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPAG17-related condition | ClinVar Annotator: match by term: Spermatogenic failure 55	PMID:25741868|PMID:28492532
8750454	Spag17	sperm associated antigen 17	gene	DOID:10534	stomach cancer		ISO	RGD:1601710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8750454	Spag17	sperm associated antigen 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8750454	Spag17	sperm associated antigen 17	gene	DOID:1115	sarcoma		ISO	RGD:1601710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8750454	Spag17	sperm associated antigen 17	gene	DOID:1324	lung cancer		ISO	RGD:1601710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8750454	Spag17	sperm associated antigen 17	gene	DOID:1909	melanoma		ISO	RGD:1601710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8750454	Spag17	sperm associated antigen 17	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8750454	Spag17	sperm associated antigen 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1601710	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8750454	Spag17	sperm associated antigen 17	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8750454	Spag17	sperm associated antigen 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750454	Spag17	sperm associated antigen 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8750454	Spag17	sperm associated antigen 17	gene	DOID:9007303	Idiopathic Short Stature, Autosomal		ISO	RGD:1601710	D	RGD:9068941	20200609	RGD		DNA:snp:enhancer:C>G (rs17038182) (human)	PMID:19893584|REF_RGD_ID:11535959
8750454	Spag17	sperm associated antigen 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8750454	Spag17	sperm associated antigen 17	gene	DOID:9849	Meniere's disease		ISO	RGD:1601710	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Meniere disease | ClinVar Annotator: match by term: Ménière's disease	
8750518	Msmo1	methylsterol monooxygenase 1	gene	DOID:1324	lung cancer		ISO	RGD:737148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8750518	Msmo1	methylsterol monooxygenase 1	gene	DOID:3275	thymoma		ISO	RGD:737148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8750518	Msmo1	methylsterol monooxygenase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8750518	Msmo1	methylsterol monooxygenase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750518	Msmo1	methylsterol monooxygenase 1	gene	DOID:630	genetic disease		ISO	RGD:737148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8750518	Msmo1	methylsterol monooxygenase 1	gene	DOID:9002853	Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis		ISO	RGD:737148	D	RGD:7240710	20190315	OMIM			
8750518	Msmo1	methylsterol monooxygenase 1	gene	DOID:9002853	Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis		ISO	RGD:737148	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY, CONGENITAL CATARACTS, AND PSORIASIFORM DERMATITIS | ClinVar Annotator: match by term: MSMO1-related condition	PMID:25741868|PMID:28492532
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:0050336	hypophosphatemia		ISO	RGD:733664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypophosphatemia	PMID:25741868
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:0050445	X-linked hypophosphatemic rickets		ISO	RGD:733664	D	RGD:7240710	20180130	OMIM			
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:0050445	X-linked hypophosphatemic rickets		ISO	RGD:733664	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT | ClinVar Annotator: match by term: PHEX-related condition | ClinVar Annotator: match by term: Vitamin D-resistant rickets,  X-linked | ClinVar Annotator: match by term: X-linked Hypophosphatemic Rickets | ClinVar Annotator: match by term: X-linked hypophosphatemic rickets | ClinVar Annotator: match by term: XLH	PMID:10439971|PMID:10737991|PMID:10874297|PMID:11502821|PMID:11502829|PMID:14564077|PMID:16055933|PMID:16199547|PMID:16636593|PMID:17576681|PMID:18162710|PMID:18625346|PMID:19219621|PMID:21050253|PMID:21902834|PMID:22261628|PMID:22577109|PMID:22695891|PMID:23079138|PMID:24102521|PMID:24756041|PMID:24857004|PMID:24926462|PMID:25031893|PMID:25042154|PMID:25086671|PMID:25525159|PMID:25741868|PMID:26051471|PMID:26377240|PMID:26402641|PMID:26467025|PMID:26894575|PMID:27840894|PMID:28492532|PMID:28506344|PMID:29393334|PMID:29460029|PMID:29505567|PMID:29644095|PMID:29858904|PMID:30476936|PMID:30682568|PMID:30920082|PMID:31216405|PMID:31910300|PMID:32253725|PMID:32329911|PMID:32619592|PMID:32772199|PMID:33639975|PMID:33666701|PMID:33852231|PMID:34006472|PMID:34141703|PMID:34434907|PMID:34633109|PMID:34806794|PMID:35654784|PMID:35738466|PMID:35842615|PMID:36530187|PMID:36672821|PMID:37059315|PMID:37334733|PMID:38057384|PMID:38442738|PMID:40126839|PMID:41043570|PMID:7550339|PMID:9097956|PMID:9106524|PMID:9199930|PMID:9536098|PMID:9768674
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:11097	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:	PMID:15029877|REF_RGD_ID:11556244
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:1074	kidney failure		ISO	RGD:3323	D	RGD:9068941	20200609	RGD		mRNA:increased expression:parathroid gland,tibia:	PMID:14693675|REF_RGD_ID:11556273
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:10754	otitis media		ISO	RGD:11097	D	RGD:9068941	20220825	MouseDO		OMIM:166760	
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:1115	sarcoma		ISO	RGD:733664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:12679	nephrocalcinosis		ISO	RGD:733664	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9430241
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:630	genetic disease		ISO	RGD:733664	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:34806794|PMID:36051396
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:824	periodontitis		ISO	RGD:733664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:25741868|PMID:28492532
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:9000099	Experimental Colitis		ISO	RGD:11097	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:bone:	PMID:16890604|REF_RGD_ID:11556253
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:9001197	Unilateral Deafness with Delayed Endolymphatic Hydrops		ISO	RGD:11097	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:	PMID:18289812|REF_RGD_ID:11556245
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:733664	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets	PMID:10737991|PMID:11004247|PMID:11468271|PMID:11502829|PMID:12414858|PMID:12727977|PMID:16199547|PMID:16636593|PMID:18162710|PMID:18625346|PMID:19219621|PMID:21902834|PMID:21994957|PMID:22261628|PMID:22695891|PMID:23079138|PMID:23466123|PMID:24684036|PMID:24836714|PMID:25031893|PMID:25042154|PMID:25741868|PMID:26040324|PMID:26377240|PMID:26467025|PMID:27840894|PMID:28492532|PMID:29460029|PMID:29505567|PMID:29707405|PMID:29858904|PMID:30298486|PMID:30607568|PMID:30682568|PMID:31910300|PMID:34633109|PMID:34806794|PMID:35738466|PMID:36530187|PMID:9097956|PMID:9106524|PMID:9199930|PMID:9768674
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:733664	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets	PMID:10737991|PMID:11004247|PMID:11468271|PMID:11502829|PMID:12414858|PMID:12727977|PMID:16199547|PMID:16636593|PMID:18162710|PMID:18625346|PMID:19219621|PMID:21902834|PMID:21994957|PMID:22261628|PMID:22319799|PMID:22695891|PMID:23079138|PMID:23466123|PMID:24684036|PMID:24836714|PMID:25031893|PMID:25042154|PMID:25741868|PMID:26040324|PMID:26377240|PMID:26467025|PMID:27840894|PMID:28492532|PMID:29460029|PMID:29505567|PMID:29707405|PMID:29858904|PMID:30298486|PMID:30607568|PMID:30682568|PMID:31910300|PMID:34633109|PMID:34806794|PMID:35738466|PMID:36530187|PMID:37059315|PMID:9097956|PMID:9106524|PMID:9199930|PMID:9768674
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:733664	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets	PMID:11004247|PMID:11502829|PMID:16199547|PMID:16636593|PMID:18162710|PMID:19219621|PMID:22261628|PMID:22319799|PMID:23466123|PMID:25031893|PMID:25741868|PMID:26040324|PMID:26467025|PMID:27840894|PMID:28492532|PMID:29460029|PMID:29505567|PMID:30298486|PMID:30607568|PMID:30682568|PMID:32329911|PMID:34633109|PMID:35738466|PMID:36482408|PMID:9097956|PMID:9106524|PMID:9199930|PMID:9768674
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:733664	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets	PMID:10439971|PMID:11502829|PMID:14564077|PMID:16199547|PMID:17576681|PMID:18162710|PMID:18625346|PMID:19219621|PMID:21050253|PMID:21902834|PMID:22261628|PMID:22695891|PMID:24102521|PMID:24857004|PMID:25031893|PMID:25741868|PMID:26402641|PMID:26467025|PMID:28492532|PMID:29460029|PMID:29505567|PMID:30682568|PMID:32253725|PMID:32329911|PMID:33639975|PMID:34434907|PMID:34806794|PMID:35738466|PMID:35842615|PMID:7550339|PMID:9097956|PMID:9106524|PMID:9536098
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:9004552	Genu Varum		ISO	RGD:733664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu varum	PMID:25741868|PMID:28492532
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16199547|PMID:19219621|PMID:22695891|PMID:25741868|PMID:28492532|PMID:33666701|PMID:9097956|PMID:9106524
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:9007505	Familial Hypophosphatemic Rickets		ISO	RGD:733664	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:11414762|PMID:18775977|PMID:3414685|PMID:9430241
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:9007661	Dwarfism		ISO	RGD:733664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
8750528	Phex	phosphate regulating endopeptidase X-linked	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:733664	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1962291
8750555	Kiaa1328	KIAA1328 ortholog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750555	Kiaa1328	KIAA1328 ortholog	gene	DOID:10534	stomach cancer		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8750555	Kiaa1328	KIAA1328 ortholog	gene	DOID:1059	intellectual disability		ISO	RGD:1343837	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8750555	Kiaa1328	KIAA1328 ortholog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8750555	Kiaa1328	KIAA1328 ortholog	gene	DOID:4362	cervical cancer		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8750555	Kiaa1328	KIAA1328 ortholog	gene	DOID:5041	esophageal cancer		ISO	RGD:1343837	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8750555	Kiaa1328	KIAA1328 ortholog	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8750555	Kiaa1328	KIAA1328 ortholog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750555	Kiaa1328	KIAA1328 ortholog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8750555	Kiaa1328	KIAA1328 ortholog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8750555	Kiaa1328	KIAA1328 ortholog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8750588	Cep85	centrosomal protein 85	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8750588	Cep85	centrosomal protein 85	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750588	Cep85	centrosomal protein 85	gene	DOID:10534	stomach cancer		ISO	RGD:1604312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8750588	Cep85	centrosomal protein 85	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8750588	Cep85	centrosomal protein 85	gene	DOID:1115	sarcoma		ISO	RGD:1604312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8750588	Cep85	centrosomal protein 85	gene	DOID:1324	lung cancer		ISO	RGD:1604312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8750588	Cep85	centrosomal protein 85	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8750588	Cep85	centrosomal protein 85	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8750588	Cep85	centrosomal protein 85	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8750609	Eya2	EYA transcriptional coactivator and phosphatase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750609	Eya2	EYA transcriptional coactivator and phosphatase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8750609	Eya2	EYA transcriptional coactivator and phosphatase 2	gene	DOID:1115	sarcoma		ISO	RGD:1350703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8750609	Eya2	EYA transcriptional coactivator and phosphatase 2	gene	DOID:1324	lung cancer		ISO	RGD:1350703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8750609	Eya2	EYA transcriptional coactivator and phosphatase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1350703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
8750609	Eya2	EYA transcriptional coactivator and phosphatase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8750609	Eya2	EYA transcriptional coactivator and phosphatase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350703	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8750609	Eya2	EYA transcriptional coactivator and phosphatase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750609	Eya2	EYA transcriptional coactivator and phosphatase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8750609	Eya2	EYA transcriptional coactivator and phosphatase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8750635	Rhobtb2	Rho related BTB domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750635	Rhobtb2	Rho related BTB domain containing 2	gene	DOID:0070375	developmental and epileptic encephalopathy 64		ISO	RGD:1320529	D	RGD:7240710	20190315	OMIM			
8750635	Rhobtb2	Rho related BTB domain containing 2	gene	DOID:0070375	developmental and epileptic encephalopathy 64		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 64 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 | ClinVar Annotator: match by term: RHOBTB2-related condition	PMID:18298893|PMID:229276004|PMID:25741868|PMID:26740508|PMID:28492532|PMID:28518168|PMID:28856709|PMID:29276004|PMID:29768694|PMID:32461654|PMID:37165955|PMID:37489029
8750635	Rhobtb2	Rho related BTB domain containing 2	gene	DOID:10283	prostate cancer		ISO	RGD:1320529	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8750635	Rhobtb2	Rho related BTB domain containing 2	gene	DOID:10283	prostate cancer		ISO	RGD:1320529	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8750635	Rhobtb2	Rho related BTB domain containing 2	gene	DOID:1059	intellectual disability		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:37165955|PMID:37489029
8750635	Rhobtb2	Rho related BTB domain containing 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532|PMID:37165955|PMID:37489029
8750635	Rhobtb2	Rho related BTB domain containing 2	gene	DOID:12849	autistic disorder		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532|PMID:37165955|PMID:37489029
8750635	Rhobtb2	Rho related BTB domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8750635	Rhobtb2	Rho related BTB domain containing 2	gene	DOID:1826	epilepsy		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:18298893|PMID:25741868|PMID:28492532|PMID:28856709|PMID:29276004|PMID:29768694|PMID:31780880|PMID:37165955|PMID:37489029
8750635	Rhobtb2	Rho related BTB domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8750635	Rhobtb2	Rho related BTB domain containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8750635	Rhobtb2	Rho related BTB domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8750635	Rhobtb2	Rho related BTB domain containing 2	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1320529	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864405
8750635	Rhobtb2	Rho related BTB domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750635	Rhobtb2	Rho related BTB domain containing 2	gene	DOID:630	genetic disease		ISO	RGD:1320529	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:37165955
8750635	Rhobtb2	Rho related BTB domain containing 2	gene	DOID:9002362	Hyperkinesis		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkinetic movements	PMID:18835386|PMID:25741868|PMID:28492532|PMID:29276004|PMID:29768694|PMID:31780880|PMID:32337345|PMID:32581362|PMID:32810689|PMID:33504645|PMID:39831600
8750635	Rhobtb2	Rho related BTB domain containing 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532|PMID:37165955|PMID:37489029
8750635	Rhobtb2	Rho related BTB domain containing 2	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:25741868|PMID:28492532|PMID:37165955|PMID:37489029
8750635	Rhobtb2	Rho related BTB domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8750669	Elmo2	engulfment and cell motility 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8750669	Elmo2	engulfment and cell motility 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750669	Elmo2	engulfment and cell motility 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8750669	Elmo2	engulfment and cell motility 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8750669	Elmo2	engulfment and cell motility 2	gene	DOID:1115	sarcoma		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8750669	Elmo2	engulfment and cell motility 2	gene	DOID:1588	thrombocytopenia		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
8750669	Elmo2	engulfment and cell motility 2	gene	DOID:1909	melanoma		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8750669	Elmo2	engulfment and cell motility 2	gene	DOID:255	hemangioma		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:25741868
8750669	Elmo2	engulfment and cell motility 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750669	Elmo2	engulfment and cell motility 2	gene	DOID:630	genetic disease		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8750669	Elmo2	engulfment and cell motility 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8750669	Elmo2	engulfment and cell motility 2	gene	DOID:9007873	Primary Intraosseous Vascular Malformation		ISO	RGD:1314023	D	RGD:7240710	20190315	OMIM			
8750669	Elmo2	engulfment and cell motility 2	gene	DOID:9007873	Primary Intraosseous Vascular Malformation		ISO	RGD:1314023	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ELMO2-related condition | ClinVar Annotator: match by term: VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS | ClinVar Annotator: match by term: Vascular malformation, primary intraosseous	PMID:25741868|PMID:28492532
8750669	Elmo2	engulfment and cell motility 2	gene	DOID:9008421	Epistaxis		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868
8750669	Elmo2	engulfment and cell motility 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8750669	Elmo2	engulfment and cell motility 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8750703	Azi2	5-azacytidine induced 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8750703	Azi2	5-azacytidine induced 2	gene	DOID:1115	sarcoma		ISO	RGD:1605352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8750703	Azi2	5-azacytidine induced 2	gene	DOID:1324	lung cancer		ISO	RGD:1605352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8750703	Azi2	5-azacytidine induced 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750703	Azi2	5-azacytidine induced 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8750732	BECN1	beclin 1	gene	DOID:1440	Machado-Joseph disease		ISO	RGD:733440	D	RGD:9068941	20200609	RGD		protein:decreased expression:fibroblast	PMID:21478185|REF_RGD_ID:6483072
8750732	Becn1	beclin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750732	Becn1	beclin 1	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:736173	D	RGD:9068941	20240829	RGD		protein:increased expression:liver	PMID:31090940|REF_RGD_ID:407445926
8750732	Becn1	beclin 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:620190	D	RGD:9068941	20240822	RGD			PMID:31787541|REF_RGD_ID:25823196
8750732	Becn1	beclin 1	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		protein:increased expression:renal cortex	PMID:21270095|REF_RGD_ID:6483074
8750732	Becn1	beclin 1	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:736173	D	RGD:9068941	20200609	RGD		protein:increased expression:renal cortex	PMID:21270095|REF_RGD_ID:6483074
8750732	Becn1	beclin 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:736173	D	RGD:9068941	20200609	RGD			PMID:19864570|REF_RGD_ID:6483312
8750732	Becn1	beclin 1	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:620190	D	RGD:9068941	20200609	RGD			PMID:25424835|REF_RGD_ID:11558014
8750732	Becn1	beclin 1	gene	DOID:0080998	acute necrotizing pancreatitis		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:21926933|REF_RGD_ID:6483068
8750732	Becn1	beclin 1	gene	DOID:10534	stomach cancer		ISO	RGD:733440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8750732	Becn1	beclin 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733440	D	RGD:9068941	20200609	RGD		protein:decreased expression:gray matter	PMID:18497889|REF_RGD_ID:6483101
8750732	Becn1	beclin 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736173	D	RGD:9068941	20200609	RGD			PMID:20863706|REF_RGD_ID:6483102
8750732	Becn1	beclin 1	gene	DOID:10763	hypertension		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:23499735|REF_RGD_ID:11561939
8750732	Becn1	beclin 1	gene	DOID:1115	sarcoma		ISO	RGD:733440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8750732	Becn1	beclin 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:733440	D	RGD:9068941	20200609	RGD		protein:increased expression:heart	PMID:25209900|REF_RGD_ID:11558015
8750732	Becn1	beclin 1	gene	DOID:12010	anterior ischemic optic neuropathy		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina	PMID:21490676|REF_RGD_ID:6483070
8750732	Becn1	beclin 1	gene	DOID:12217	Lewy body dementia		ISO	RGD:733440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19628769
8750732	Becn1	beclin 1	gene	DOID:12351	alcoholic hepatitis		ISO	RGD:736173	D	RGD:9068941	20240829	RGD		protein:increased expression:liver	PMID:31090940|REF_RGD_ID:407445926
8750732	Becn1	beclin 1	gene	DOID:12935	alcoholic cardiomyopathy	treatment	ISO	RGD:736173	D	RGD:9068941	20240912	RGD			PMID:29039471|REF_RGD_ID:407532638
8750732	Becn1	beclin 1	gene	DOID:1324	lung cancer		ISO	RGD:733440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8750732	Becn1	beclin 1	gene	DOID:1440	Machado-Joseph disease		ISO	RGD:736173	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:21478185|REF_RGD_ID:6483072
8750732	Becn1	beclin 1	gene	DOID:1596	depressive disorder	disease_progression	ISO	RGD:733440	D	RGD:9068941	20200609	RGD			PMID:25386878|REF_RGD_ID:11561930
8750732	Becn1	beclin 1	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:736173	D	RGD:9068941	20200609	RGD			PMID:25386878|REF_RGD_ID:11561930
8750732	Becn1	beclin 1	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:733440	D	RGD:9068941	20221103	RGD			PMID:33292020|REF_RGD_ID:155641236
8750732	Becn1	beclin 1	gene	DOID:1686	glaucoma		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		protein:increased expression:eye	PMID:22476098|REF_RGD_ID:6483048
8750732	Becn1	beclin 1	gene	DOID:1824	status epilepticus		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		mRNA:protein:increased expression	PMID:19138675|REF_RGD_ID:6483096
8750732	Becn1	beclin 1	gene	DOID:1824	status epilepticus		ISO	RGD:733440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19138675
8750732	Becn1	beclin 1	gene	DOID:1826	epilepsy		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:hippocampus	PMID:20838925|REF_RGD_ID:6483076
8750732	Becn1	beclin 1	gene	DOID:2316	brain ischemia		ISO	RGD:620190	D	RGD:9068941	20200609	RGD			PMID:19574998|REF_RGD_ID:6483094
8750732	Becn1	beclin 1	gene	DOID:2316	brain ischemia		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus, frontal cortex	PMID:17936001|REF_RGD_ID:6483313
8750732	Becn1	beclin 1	gene	DOID:3068	glioblastoma	disease_progression	ISO	RGD:733440	D	RGD:9068941	20200609	RGD			PMID:20863706|REF_RGD_ID:6483102
8750732	Becn1	beclin 1	gene	DOID:326	ischemia		ISO	RGD:620190	D	RGD:9068941	20200609	RGD			PMID:25435100|REF_RGD_ID:11561945
8750732	Becn1	beclin 1	gene	DOID:3275	thymoma		ISO	RGD:733440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8750732	Becn1	beclin 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:736173	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:23851366|REF_RGD_ID:11561951
8750732	Becn1	beclin 1	gene	DOID:3454	brain infarction		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:22227058|REF_RGD_ID:6483057
8750732	Becn1	beclin 1	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:620190	D	RGD:9068941	20200609	RGD			PMID:22108007|REF_RGD_ID:11561900
8750732	Becn1	beclin 1	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:620190	D	RGD:9068941	20200609	RGD			PMID:22301112|REF_RGD_ID:11561943
8750732	Becn1	beclin 1	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:733440	D	RGD:9068941	20200609	RGD			PMID:22301112|REF_RGD_ID:11561943
8750732	Becn1	beclin 1	gene	DOID:4928	intrahepatic cholangiocarcinoma	disease_progression	ISO	RGD:733440	D	RGD:9068941	20200609	RGD			PMID:30849962|REF_RGD_ID:14974231
8750732	Becn1	beclin 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:733440	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle	PMID:22895779|REF_RGD_ID:11561934
8750732	Becn1	beclin 1	gene	DOID:5199	ureteral obstruction		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		protein:increased expression:cortex of kidney	PMID:23314838|REF_RGD_ID:11561927
8750732	Becn1	beclin 1	gene	DOID:5419	schizophrenia		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hippocampus	PMID:24365867|REF_RGD_ID:11561929
8750732	Becn1	beclin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750732	Becn1	beclin 1	gene	DOID:5844	myocardial infarction		ISO	RGD:733440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20079142
8750732	Becn1	beclin 1	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:620190	D	RGD:9068941	20200609	RGD			PMID:20079142|REF_RGD_ID:11561913
8750732	Becn1	beclin 1	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:620190	D	RGD:9068941	20200609	RGD			PMID:18619688|REF_RGD_ID:11560532
8750732	Becn1	beclin 1	gene	DOID:607	paraplegia		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		protein:increased expression:soleus muscle	PMID:23055316|REF_RGD_ID:11557990
8750732	Becn1	beclin 1	gene	DOID:646	viral encephalitis		ISO	RGD:733440	D	RGD:9068941	20200609	RGD		associated with HIV infections;protein:increased expression:brain	PMID:21592995|REF_RGD_ID:6483316
8750732	Becn1	beclin 1	gene	DOID:783	end stage renal disease		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:24090408|REF_RGD_ID:11561926
8750732	Becn1	beclin 1	gene	DOID:8283	peritonitis		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		protein:increased expression:	PMID:22001349|REF_RGD_ID:6483066
8750732	Becn1	beclin 1	gene	DOID:8398	osteoarthritis		ISO	RGD:733440	D	RGD:9068941	20200609	RGD		protein:decreased expression:cartilage	PMID:20187128|REF_RGD_ID:6483317
8750732	Becn1	beclin 1	gene	DOID:8398	osteoarthritis		ISO	RGD:736173	D	RGD:9068941	20200609	RGD		protein:decreased expression:cartilage	PMID:20187128|REF_RGD_ID:6483317
8750732	Becn1	beclin 1	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:733440	D	RGD:9068941	20200609	RGD		protein:increased expression:intestine	PMID:20539009|REF_RGD_ID:6483081
8750732	Becn1	beclin 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:620190	D	RGD:9068941	20241024	RGD		associated with type 2 diabetes mellitus; protein:decreased, altered expression:retina	PMID:32272782|REF_RGD_ID:407571700
8750732	Becn1	beclin 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:736173	D	RGD:9068941	20241024	RGD		associated with type 1 diabetes mellitus;protein:decreased, altered expression:retina	PMID:32272782|REF_RGD_ID:407571700
8750732	Becn1	beclin 1	gene	DOID:90	degenerative disc disease		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		protein:increased expression:intervertebral disc	PMID:22835012|REF_RGD_ID:11561942
8750732	Becn1	beclin 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:620190	D	RGD:9068941	20200609	RGD			PMID:24559459|REF_RGD_ID:11561918
8750732	Becn1	beclin 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:733440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29793971
8750732	Becn1	beclin 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:736173	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:21806471|REF_RGD_ID:6483100
8750732	Becn1	beclin 1	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:620190	D	RGD:9068941	20200609	RGD			PMID:23852559|REF_RGD_ID:11561922
8750732	Becn1	beclin 1	gene	DOID:9000288	Chronic Intermittent Hypoxia		ISO	RGD:620190	D	RGD:9068941	20200609	RGD			PMID:24990154|REF_RGD_ID:11561988
8750732	Becn1	beclin 1	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:22521819|REF_RGD_ID:6483046
8750732	Becn1	beclin 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus	PMID:24221859|REF_RGD_ID:11558018
8750732	Becn1	beclin 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		protein:increased expression:neuron, astrocyte	PMID:18500386|REF_RGD_ID:6483098
8750732	Becn1	beclin 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:733440	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: therapeutic	PMID:34929507
8750732	Becn1	beclin 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:736173	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:16874043|REF_RGD_ID:6483314
8750732	Becn1	beclin 1	gene	DOID:9002138	Spinal Cord Reperfusion Injury	treatment	ISO	RGD:620190	D	RGD:9068941	20200609	RGD			PMID:25374587|REF_RGD_ID:11561952
8750732	Becn1	beclin 1	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:736173	D	RGD:9068941	20230701	RGD			PMID:34400126|REF_RGD_ID:329902072
8750732	Becn1	beclin 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:21866636|REF_RGD_ID:6483069
8750732	Becn1	beclin 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:620190	D	RGD:9068941	20200609	RGD			PMID:23665054|REF_RGD_ID:11560531
8750732	Becn1	beclin 1	gene	DOID:9002514	Neointima		ISO	RGD:620190	D	RGD:9068941	20200609	RGD			PMID:25238224|REF_RGD_ID:11558011
8750732	Becn1	beclin 1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		protein:increased expression:basal ganglion	PMID:23884876|REF_RGD_ID:11561935
8750732	Becn1	beclin 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:733440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20876807
8750732	Becn1	beclin 1	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		protein:increased expression:lumbar spinal cord ventral horn	PMID:21436843|REF_RGD_ID:5685686
8750732	Becn1	beclin 1	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:25919564|REF_RGD_ID:11558017
8750732	Becn1	beclin 1	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex	PMID:22449108|REF_RGD_ID:6483050
8750732	Becn1	beclin 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:heart left ventricle	PMID:23326547|REF_RGD_ID:11561904
8750732	Becn1	beclin 1	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:620190	D	RGD:9068941	20200609	RGD			PMID:24998254|REF_RGD_ID:11561938
8750732	Becn1	beclin 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:22306244|REF_RGD_ID:6483054
8750732	Becn1	beclin 1	gene	DOID:9004332	Osteoarthritis, Experimental	treatment	ISO	RGD:620190	D	RGD:9068941	20200609	RGD			PMID:23589102|REF_RGD_ID:11561955
8750732	Becn1	beclin 1	gene	DOID:9004649	Heat Stroke		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex	PMID:20823696|REF_RGD_ID:6483077
8750732	Becn1	beclin 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:733440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22481206|PMID:23790316
8750732	Becn1	beclin 1	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:620190	D	RGD:9068941	20200609	RGD			PMID:24993523|REF_RGD_ID:11557996
8750732	Becn1	beclin 1	gene	DOID:9006008	Closed Head Injuries		ISO	RGD:736173	D	RGD:9068941	20200609	RGD		protein:increased expression:neuron	PMID:16004578|REF_RGD_ID:6483315
8750732	Becn1	beclin 1	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:620190	D	RGD:9068941	20200609	RGD			PMID:26412257|REF_RGD_ID:11561958
8750732	Becn1	beclin 1	gene	DOID:9006281	Temporomandibular Joint Disorders		ISO	RGD:620190	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:cartilage tissue	PMID:23386193|REF_RGD_ID:10041017
8750732	Becn1	beclin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8750732	Becn1	beclin 1	gene	DOID:9007090	Experimental Seizures	treatment	ISO	RGD:620190	D	RGD:9068941	20200609	RGD			PMID:23994218|REF_RGD_ID:11561923
8750732	Becn1	beclin 1	gene	DOID:9007558	Acute Experimental Pancreatitis	treatment	ISO	RGD:736173	D	RGD:9068941	20200609	RGD			PMID:22850625|REF_RGD_ID:11560530
8750732	Becn1	beclin 1	gene	DOID:9007730	Burns		ISO	RGD:620190	D	RGD:9068941	20200609	RGD			PMID:24730400|REF_RGD_ID:11561936
8750732	Becn1	beclin 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:736173	D	RGD:9068941	20200609	RGD			PMID:20812860|REF_RGD_ID:11561944
8750732	Becn1	beclin 1	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:620190	D	RGD:9068941	20200609	RGD			PMID:20821058|REF_RGD_ID:11561911
8750732	Becn1	beclin 1	gene	DOID:9008022	Temporomandibular Joint Osteoarthritis		ISO	RGD:620190	D	RGD:9068941	20200709	RGD			PMID:31007149|REF_RGD_ID:34888237
8750732	Becn1	beclin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8750732	Becn1	beclin 1	gene	DOID:9206	Barrett's esophagus		ISO	RGD:620190	D	RGD:9068941	20200609	RGD			PMID:22301112|REF_RGD_ID:11561943
8750732	Becn1	beclin 1	gene	DOID:9206	Barrett's esophagus	disease_progression	ISO	RGD:733440	D	RGD:9068941	20200609	RGD			PMID:22301112|REF_RGD_ID:11561943
8750732	Becn1	beclin 1	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:620190	D	RGD:9068941	20200609	RGD			PMID:21820301|REF_RGD_ID:11561956
8750732	Becn1	beclin 1	gene	DOID:9743	diabetic neuropathy	treatment	ISO	RGD:620190	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:25824552|REF_RGD_ID:11561957
8750762	Rbp1	retinol binding protein 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:732391	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8750762	Rbp1	retinol binding protein 1	gene	DOID:305	carcinoma		ISO	RGD:732391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8750762	Rbp1	retinol binding protein 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:732391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16134180|PMID:16367923
8750762	Rbp1	retinol binding protein 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:732391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8750762	Rbp1	retinol binding protein 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:732391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28157488
8750762	Rbp1	retinol binding protein 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:3543	D	RGD:9068941	20220331	RGD		mRNA, protein:increased expression:mammary gland (rat)	PMID:12376462|REF_RGD_ID:2292404
8750762	Rbp1	retinol binding protein 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:732391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8750762	Rbp1	retinol binding protein 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:732391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16099942
8750762	Rbp1	retinol binding protein 1	gene	DOID:9538	multiple myeloma	disease_progression	ISO	RGD:732391	D	RGD:9068941	20230928	RGD		DNA:hypermethylation: :	PMID:23699600|REF_RGD_ID:11073605
8750770	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8750770	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:0060058	lymphoma		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8750770	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:0110392	retinitis pigmentosa 70		ISO	RGD:1322687	D	RGD:7240710	20180130	OMIM			
8750770	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:0110392	retinitis pigmentosa 70		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PRPF4-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 70	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8750770	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:10534	stomach cancer		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8750770	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:303	substance-related disorder		ISO	RGD:1322687	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8750770	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8750770	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:4362	cervical cancer		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8750770	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8750770	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750770	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:8501	fundus dystrophy		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:24959063|PMID:25741868|PMID:28492532
8750770	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8750770	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8750770	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8750803	Saxo2	stabilizer of axonemal microtubules 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8750803	Saxo2	stabilizer of axonemal microtubules 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750803	Saxo2	stabilizer of axonemal microtubules 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8750803	Saxo2	stabilizer of axonemal microtubules 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750803	Saxo2	stabilizer of axonemal microtubules 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8750824	Trim46	tripartite motif containing 46	gene	DOID:1115	sarcoma		ISO	RGD:1314352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8750824	Trim46	tripartite motif containing 46	gene	DOID:1324	lung cancer		ISO	RGD:1314352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8750824	Trim46	tripartite motif containing 46	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8750824	Trim46	tripartite motif containing 46	gene	DOID:4362	cervical cancer		ISO	RGD:1314352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8750824	Trim46	tripartite motif containing 46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750824	Trim46	tripartite motif containing 46	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8750824	Trim46	tripartite motif containing 46	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314352	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8750824	Trim46	tripartite motif containing 46	gene	DOID:9256	colorectal cancer		ISO	RGD:1314352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8750881	Dpy19l3	dpy-19 like C-mannosyltransferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750881	Dpy19l3	dpy-19 like C-mannosyltransferase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1604230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8750881	Dpy19l3	dpy-19 like C-mannosyltransferase 3	gene	DOID:1324	lung cancer		ISO	RGD:1604230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8750881	Dpy19l3	dpy-19 like C-mannosyltransferase 3	gene	DOID:3275	thymoma		ISO	RGD:1604230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8750881	Dpy19l3	dpy-19 like C-mannosyltransferase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8750881	Dpy19l3	dpy-19 like C-mannosyltransferase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1604230	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8750881	Dpy19l3	dpy-19 like C-mannosyltransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750881	Dpy19l3	dpy-19 like C-mannosyltransferase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8750881	Dpy19l3	dpy-19 like C-mannosyltransferase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8750881	Dpy19l3	dpy-19 like C-mannosyltransferase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8750916	Sost	sclerostin	gene	DOID:0060251	sclerosteosis		ISO	RGD:737334	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	
8750916	Sost	sclerostin	gene	DOID:0060251	sclerosteosis		ISO	RGD:737334	D	RGD:9068941	20260521	RGD		DNA:transition: :69C>T (human)	PMID:11179006|REF_RGD_ID:68858
8750916	Sost	sclerostin	gene	DOID:0060756	sclerosteosis 1		ISO	RGD:737334	D	RGD:7240710	20180314	OMIM			
8750916	Sost	sclerostin	gene	DOID:0060756	sclerosteosis 1		ISO	RGD:737334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SCLEROSTEOSIS 1 | ClinVar Annotator: match by term: SOST-related condition | ClinVar Annotator: match by term: Sclerosteosis 1	PMID:11179006|PMID:11181578|PMID:19072561|PMID:20301406|PMID:25741868|PMID:25984533|PMID:28492532
8750916	Sost	sclerostin	gene	DOID:0080036	SOST-related sclerosing bone dysplasia		ISO	RGD:737335	D	RGD:9068941	20230506	MouseDO		OMIM:239100	
8750916	Sost	sclerostin	gene	DOID:0080807	autosomal dominant craniodiaphyseal dysplasia		ISO	RGD:737334	D	RGD:7240710	20180130	OMIM			
8750916	Sost	sclerostin	gene	DOID:0080807	autosomal dominant craniodiaphyseal dysplasia		ISO	RGD:737334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Craniodiaphyseal dysplasia, autosomal dominant	PMID:25741868
8750916	Sost	sclerostin	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:737334	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: marker/mechanism	
8750916	Sost	sclerostin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750916	Sost	sclerostin	gene	DOID:630	genetic disease		ISO	RGD:737334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8750923	Mnt	MAX network transcriptional repressor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750923	Mnt	MAX network transcriptional repressor	gene	DOID:0060469	Miller-Dieker lissencephaly syndrome		ISO	RGD:1318598	D	RGD:9068941	20220825	MouseDO		OMIM:247200	
8750923	Mnt	MAX network transcriptional repressor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8750923	Mnt	MAX network transcriptional repressor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8750923	Mnt	MAX network transcriptional repressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750923	Mnt	MAX network transcriptional repressor	gene	DOID:674	cleft palate		ISO	RGD:1318597	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15028671
8750923	Mnt	MAX network transcriptional repressor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8750923	Mnt	MAX network transcriptional repressor	gene	DOID:9008500	Classical Lissencephalies and Subcortical Band Heterotopias		ISO	RGD:1318597	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15028671
8750923	Mnt	MAX network transcriptional repressor	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1318597	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15028671
8750934	Tmem132d	transmembrane protein 132D	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1606177	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
8750934	Tmem132d	transmembrane protein 132D	gene	DOID:10534	stomach cancer		ISO	RGD:1606177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8750934	Tmem132d	transmembrane protein 132D	gene	DOID:1059	intellectual disability		ISO	RGD:1606177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8750934	Tmem132d	transmembrane protein 132D	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1606177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8750934	Tmem132d	transmembrane protein 132D	gene	DOID:1115	sarcoma		ISO	RGD:1606177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8750934	Tmem132d	transmembrane protein 132D	gene	DOID:1324	lung cancer		ISO	RGD:1606177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8750934	Tmem132d	transmembrane protein 132D	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1606177	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
8750934	Tmem132d	transmembrane protein 132D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750934	Tmem132d	transmembrane protein 132D	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1606177	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
8750954	Rpl38	ribosomal protein L38	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8750954	Rpl38	ribosomal protein L38	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750954	Rpl38	ribosomal protein L38	gene	DOID:10534	stomach cancer		ISO	RGD:1313682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8750954	Rpl38	ribosomal protein L38	gene	DOID:10754	otitis media		ISO	RGD:1313683	D	RGD:9068941	20220825	MouseDO		OMIM:166760	
8750954	Rpl38	ribosomal protein L38	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8750954	Rpl38	ribosomal protein L38	gene	DOID:1324	lung cancer		ISO	RGD:1313682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8750954	Rpl38	ribosomal protein L38	gene	DOID:1909	melanoma		ISO	RGD:1313682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8750954	Rpl38	ribosomal protein L38	gene	DOID:3275	thymoma		ISO	RGD:1313682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8750954	Rpl38	ribosomal protein L38	gene	DOID:4362	cervical cancer		ISO	RGD:1313682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8750954	Rpl38	ribosomal protein L38	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750954	Rpl38	ribosomal protein L38	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8750965	Il18bp	interleukin 18 binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8750965	Il18bp	interleukin 18 binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1348622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8750965	Il18bp	interleukin 18 binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8750965	Il18bp	interleukin 18 binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1348622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8750965	Il18bp	interleukin 18 binding protein	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:1348622	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:15566508|REF_RGD_ID:14696666
8750965	Il18bp	interleukin 18 binding protein	gene	DOID:1485	cystic fibrosis		ISO	RGD:1348622	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20026745|REF_RGD_ID:4889551
8750965	Il18bp	interleukin 18 binding protein	gene	DOID:1884	viral hepatitis		ISO	RGD:1348622	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hepatitis, fulminant viral, susceptibility to	
8750965	Il18bp	interleukin 18 binding protein	gene	DOID:2349	arteriosclerosis		ISO	RGD:1551696	D	RGD:9068941	20200609	RGD			PMID:11577031|REF_RGD_ID:4892618
8750965	Il18bp	interleukin 18 binding protein	gene	DOID:3042	allergic contact dermatitis	treatment	ISO	RGD:1348622	D	RGD:9068941	20200609	RGD			PMID:12874202|REF_RGD_ID:8655940
8750965	Il18bp	interleukin 18 binding protein	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1348622	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20026745|REF_RGD_ID:4889551
8750965	Il18bp	interleukin 18 binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8750965	Il18bp	interleukin 18 binding protein	gene	DOID:5082	liver cirrhosis	disease_progression	ISO	RGD:1348622	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:12462332|REF_RGD_ID:14695542
8750965	Il18bp	interleukin 18 binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750965	Il18bp	interleukin 18 binding protein	gene	DOID:5844	myocardial infarction		ISO	RGD:1348622	D	RGD:9068941	20200609	RGD			PMID:19805173|REF_RGD_ID:4889400
8750965	Il18bp	interleukin 18 binding protein	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348622	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8750965	Il18bp	interleukin 18 binding protein	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:620042	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver	PMID:25919765|REF_RGD_ID:14696667
8750965	Il18bp	interleukin 18 binding protein	gene	DOID:9004283	Transplant Rejection		ISO	RGD:620042	D	RGD:9068941	20200609	RGD			PMID:21962809|REF_RGD_ID:8655943
8750965	Il18bp	interleukin 18 binding protein	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:620042	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mammary gland	PMID:18959458|REF_RGD_ID:2313895
8750965	Il18bp	interleukin 18 binding protein	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1348622	D	RGD:9068941	20200609	RGD			PMID:19805173|REF_RGD_ID:4889400
8750965	Il18bp	interleukin 18 binding protein	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1551696	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:19164288|REF_RGD_ID:4889578
8750965	Il18bp	interleukin 18 binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8750985	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:0060340	ciliopathy		ISO	RGD:1322950	D	RGD:9068941	20220825	MouseDO			
8750985	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:0080072	intestinal pseudo-obstruction		ISO	RGD:1322950	D	RGD:9068941	20220825	MouseDO		OMIM:243180 | OMIM:601223	
8750985	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:0080600	COVID-19		ISO	RGD:1322949	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8750985	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1322949	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IgA nephropathy, susceptibility to, 3	PMID:25741868
8750985	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:2986	IgA glomerulonephritis	susceptibility	ISO	RGD:1322949	D	RGD:7240710	20190502	OMIM			
8750985	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:674	cleft palate		ISO	RGD:1322949	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17576140
8750985	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:850	lung disease		ISO	RGD:1322949	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24210189
8750985	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1322949	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15136453
8750985	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1322949	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17576140
8750985	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:9164	achalasia		ISO	RGD:1322950	D	RGD:9068941	20220825	MouseDO		OMIM:200400	
8750985	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:9296	cleft lip		ISO	RGD:1322949	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17576140
8750992	Ugcg	UDP-glucose ceramide glucosyltransferase	gene	DOID:0060058	lymphoma		ISO	RGD:1349188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8750992	Ugcg	UDP-glucose ceramide glucosyltransferase	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1349188	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma	
8750992	Ugcg	UDP-glucose ceramide glucosyltransferase	gene	DOID:0080600	COVID-19		ISO	RGD:1349188	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:33639165
8750992	Ugcg	UDP-glucose ceramide glucosyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1349188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8750992	Ugcg	UDP-glucose ceramide glucosyltransferase	gene	DOID:10763	hypertension	treatment	ISO	RGD:621870	D	RGD:9068941	20230817	RGD			PMID:23528973|REF_RGD_ID:401793732
8750992	Ugcg	UDP-glucose ceramide glucosyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1349188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8750992	Ugcg	UDP-glucose ceramide glucosyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1349188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8750992	Ugcg	UDP-glucose ceramide glucosyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8750992	Ugcg	UDP-glucose ceramide glucosyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1349188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8750992	Ugcg	UDP-glucose ceramide glucosyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1349188	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8750992	Ugcg	UDP-glucose ceramide glucosyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8750992	Ugcg	UDP-glucose ceramide glucosyltransferase	gene	DOID:9001488	Human Influenza		ISO	RGD:1349188	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:33639165
8750992	Ugcg	UDP-glucose ceramide glucosyltransferase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1349188	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8750992	Ugcg	UDP-glucose ceramide glucosyltransferase	gene	DOID:9003139	Cardiac Fibrosis	treatment	ISO	RGD:621870	D	RGD:9068941	20230817	RGD			PMID:23528973|REF_RGD_ID:401793732
8750992	Ugcg	UDP-glucose ceramide glucosyltransferase	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:621870	D	RGD:9068941	20230817	RGD			PMID:23528973|REF_RGD_ID:401793732
8750992	Ugcg	UDP-glucose ceramide glucosyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8750992	Ugcg	UDP-glucose ceramide glucosyltransferase	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1349188	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8750992	Ugcg	UDP-glucose ceramide glucosyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8751005	Nme9	NME/NM23 family member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8751005	Nme9	NME/NM23 family member 9	gene	DOID:1115	sarcoma		ISO	RGD:1351445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8751005	Nme9	NME/NM23 family member 9	gene	DOID:4362	cervical cancer		ISO	RGD:1351445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8751005	Nme9	NME/NM23 family member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751005	Nme9	NME/NM23 family member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8751005	Nme9	NME/NM23 family member 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8751030	Odaph	odontogenesis associated phosphoprotein	gene	DOID:0110062	amelogenesis imperfecta hypomaturation type 2A4		ISO	RGD:1604986	D	RGD:7240710	20180130	OMIM			
8751030	Odaph	odontogenesis associated phosphoprotein	gene	DOID:0110062	amelogenesis imperfecta hypomaturation type 2A4		ISO	RGD:1604986	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 | ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4	PMID:22901946|PMID:25741868
8751030	Odaph	odontogenesis associated phosphoprotein	gene	DOID:2394	ovarian cancer		ISO	RGD:1604986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8751030	Odaph	odontogenesis associated phosphoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751030	Odaph	odontogenesis associated phosphoprotein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8751030	Odaph	odontogenesis associated phosphoprotein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8751044	Ranbp9	RAN binding protein 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8751044	Ranbp9	RAN binding protein 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8751044	Ranbp9	RAN binding protein 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8751044	Ranbp9	RAN binding protein 9	gene	DOID:1115	sarcoma		ISO	RGD:1344686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8751044	Ranbp9	RAN binding protein 9	gene	DOID:12849	autistic disorder		ISO	RGD:1344686	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
8751044	Ranbp9	RAN binding protein 9	gene	DOID:3275	thymoma		ISO	RGD:1344686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8751044	Ranbp9	RAN binding protein 9	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1344686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8751044	Ranbp9	RAN binding protein 9	gene	DOID:4362	cervical cancer		ISO	RGD:1344686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8751044	Ranbp9	RAN binding protein 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344686	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8751044	Ranbp9	RAN binding protein 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8751044	Ranbp9	RAN binding protein 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8751044	Ranbp9	RAN binding protein 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8751086	Eif6	eukaryotic translation initiation factor 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8751086	Eif6	eukaryotic translation initiation factor 6	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1313362	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Exstrophy-epispadias complex	PMID:25741868
8751086	Eif6	eukaryotic translation initiation factor 6	gene	DOID:10534	stomach cancer		ISO	RGD:1313362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8751086	Eif6	eukaryotic translation initiation factor 6	gene	DOID:1909	melanoma		ISO	RGD:1313362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8751086	Eif6	eukaryotic translation initiation factor 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8751086	Eif6	eukaryotic translation initiation factor 6	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1313362	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8751086	Eif6	eukaryotic translation initiation factor 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8751086	Eif6	eukaryotic translation initiation factor 6	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1313362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8751086	Eif6	eukaryotic translation initiation factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751086	Eif6	eukaryotic translation initiation factor 6	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1313362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8751086	Eif6	eukaryotic translation initiation factor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8751086	Eif6	eukaryotic translation initiation factor 6	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313362	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151356
8751086	Eif6	eukaryotic translation initiation factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8751103	Bbox1	gamma-butyrobetaine hydroxylase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751103	Bbox1	gamma-butyrobetaine hydroxylase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:732171	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8751134	Slc12a4	solute carrier family 12 member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8751134	Slc12a4	solute carrier family 12 member 4	gene	DOID:10534	stomach cancer		ISO	RGD:736767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8751134	Slc12a4	solute carrier family 12 member 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8751134	Slc12a4	solute carrier family 12 member 4	gene	DOID:1115	sarcoma		ISO	RGD:736767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8751134	Slc12a4	solute carrier family 12 member 4	gene	DOID:3070	high grade glioma		ISO	RGD:736767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8751134	Slc12a4	solute carrier family 12 member 4	gene	DOID:3275	thymoma		ISO	RGD:736767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8751134	Slc12a4	solute carrier family 12 member 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:736767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8751134	Slc12a4	solute carrier family 12 member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751134	Slc12a4	solute carrier family 12 member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8751134	Slc12a4	solute carrier family 12 member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8751134	Slc12a4	solute carrier family 12 member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8751134	Slc12a4	solute carrier family 12 member 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8751134	Slc12a4	solute carrier family 12 member 4	gene	DOID:9256	colorectal cancer		ISO	RGD:736767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25741868
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:0050581	brachydactyly		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:30723319
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:10126	keratoconus		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Keratoconus	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:10534	stomach cancer		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis pigmentosa, syndromic	PMID:25741868|PMID:28794130|PMID:30723319|PMID:32214227
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:1059	intellectual disability		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868|PMID:30723319
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:1115	sarcoma		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:11830	myopia		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:12849	autistic disorder		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:1324	lung cancer		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:1909	melanoma		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:3070	high grade glioma		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:3275	thymoma		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:4362	cervical cancer		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:5041	esophageal cancer		ISO	RGD:1345518	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:5419	schizophrenia		ISO	RGD:1345518	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:5723	optic atrophy		ISO	RGD:1345518	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:630	genetic disease		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:83	cataract		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:8501	fundus dystrophy		ISO	RGD:1345518	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:9001917	INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA		ISO	RGD:1345518	D	RGD:7240710	20200115	OMIM			
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:9001917	INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA		ISO	RGD:1345518	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA | ClinVar Annotator: match by term: SCAPER-related condition	PMID:25741868|PMID:28492532
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:9002569	Overweight		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:9003133	Hypertelorism		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:9004538	Hearing Loss		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:9007573	Flatfoot		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:9007661	Dwarfism		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:30723319
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:9256	colorectal cancer		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1345518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
8751177	Scaper	S-phase cyclin A associated protein in the ER	gene	DOID:9970	obesity		ISO	RGD:1345518	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:30723319
8751217	Colec11	collectin subfamily member 11	gene	DOID:0060225	3MC syndrome		ISO	RGD:1320152	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: 3MC syndrome	PMID:25741868
8751217	Colec11	collectin subfamily member 11	gene	DOID:0060575	3MC syndrome 1		ISO	RGD:1320152	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:21258343
8751217	Colec11	collectin subfamily member 11	gene	DOID:0060576	3MC syndrome 2		ISO	RGD:1320152	D	RGD:7240710	20180130	OMIM			
8751217	Colec11	collectin subfamily member 11	gene	DOID:0060576	3MC syndrome 2		ISO	RGD:1320152	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 3MC SYNDROME 2 | ClinVar Annotator: match by term: 3MC syndrome 2 | ClinVar Annotator: match by term: COLEC11-related condition | ClinVar Annotator: match by term: Carnevale syndrome	PMID:21258343|PMID:25741868|PMID:28301481|PMID:28492532
8751217	Colec11	collectin subfamily member 11	gene	DOID:0060577	3MC syndrome 3		ISO	RGD:1320152	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:21258343
8751217	Colec11	collectin subfamily member 11	gene	DOID:10123	pigmentation disease		ISO	RGD:1320152	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:21258343
8751217	Colec11	collectin subfamily member 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320152	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8751217	Colec11	collectin subfamily member 11	gene	DOID:1324	lung cancer		ISO	RGD:1320152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8751217	Colec11	collectin subfamily member 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8751217	Colec11	collectin subfamily member 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8751217	Colec11	collectin subfamily member 11	gene	DOID:630	genetic disease		ISO	RGD:1320152	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8751217	Colec11	collectin subfamily member 11	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8751217	Colec11	collectin subfamily member 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8751217	Colec11	collectin subfamily member 11	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1320152	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:21258343
8751217	Colec11	collectin subfamily member 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8751217	Colec11	collectin subfamily member 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8751228	Atoh8	atonal bHLH transcription factor 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8751228	Atoh8	atonal bHLH transcription factor 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751228	Atoh8	atonal bHLH transcription factor 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8751228	Atoh8	atonal bHLH transcription factor 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8751228	Atoh8	atonal bHLH transcription factor 8	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1350083	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8751234	Itga7	integrin subunit alpha 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
8751234	Itga7	integrin subunit alpha 7	gene	DOID:0050700	cardiomyopathy	treatment	ISO	RGD:71022	D	RGD:9068941	20200609	RGD			PMID:15632017|REF_RGD_ID:13601980
8751234	Itga7	integrin subunit alpha 7	gene	DOID:0080000	muscular disease		ISO	RGD:734343	D	RGD:9068941	20200609	RGD			PMID:9590299|REF_RGD_ID:1600024
8751234	Itga7	integrin subunit alpha 7	gene	DOID:0080600	COVID-19		ISO	RGD:734343	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8751234	Itga7	integrin subunit alpha 7	gene	DOID:0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency		ISO	RGD:734343	D	RGD:7240710	20180130	OMIM			
8751234	Itga7	integrin subunit alpha 7	gene	DOID:0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency		ISO	RGD:734343	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency | ClinVar Annotator: match by term: Congenital muscular dystrophy with integrin alpha-7 deficiency | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY | ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to ITGA7 deficiency | ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	PMID:12057917|PMID:16199547|PMID:17576681|PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532|PMID:31785789|PMID:34552617|PMID:36444867|PMID:9536098|PMID:9590299
8751234	Itga7	integrin subunit alpha 7	gene	DOID:10534	stomach cancer		ISO	RGD:734343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8751234	Itga7	integrin subunit alpha 7	gene	DOID:1115	sarcoma		ISO	RGD:734343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:24033266|PMID:25741868|PMID:28492532
8751234	Itga7	integrin subunit alpha 7	gene	DOID:11723	Duchenne muscular dystrophy	treatment	ISO	RGD:734343	D	RGD:9068941	20200609	RGD			PMID:23319059|REF_RGD_ID:13601981
8751234	Itga7	integrin subunit alpha 7	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:734343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:27854218
8751234	Itga7	integrin subunit alpha 7	gene	DOID:1324	lung cancer		ISO	RGD:734343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8751234	Itga7	integrin subunit alpha 7	gene	DOID:1909	melanoma		ISO	RGD:734343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:24033266|PMID:25741868|PMID:28492532
8751234	Itga7	integrin subunit alpha 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
8751234	Itga7	integrin subunit alpha 7	gene	DOID:2349	arteriosclerosis		ISO	RGD:71022	D	RGD:9068941	20200609	RGD		Atherogenesis	PMID:14988073|REF_RGD_ID:1600025
8751234	Itga7	integrin subunit alpha 7	gene	DOID:3070	high grade glioma		ISO	RGD:734343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8751234	Itga7	integrin subunit alpha 7	gene	DOID:3275	thymoma		ISO	RGD:734343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:24033266|PMID:25741868|PMID:28492532
8751234	Itga7	integrin subunit alpha 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:734343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8751234	Itga7	integrin subunit alpha 7	gene	DOID:4362	cervical cancer		ISO	RGD:734343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:24033266|PMID:25741868|PMID:28492532
8751234	Itga7	integrin subunit alpha 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:734343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:24033266|PMID:25741868|PMID:28492532
8751234	Itga7	integrin subunit alpha 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751234	Itga7	integrin subunit alpha 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:28492532
8751234	Itga7	integrin subunit alpha 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
8751234	Itga7	integrin subunit alpha 7	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:734343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532|PMID:31785789
8751234	Itga7	integrin subunit alpha 7	gene	DOID:9001276	Failure to Thrive		ISO	RGD:734343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8751234	Itga7	integrin subunit alpha 7	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:734343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
8751234	Itga7	integrin subunit alpha 7	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:734343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:24033266|PMID:25741868|PMID:28492532
8751234	Itga7	integrin subunit alpha 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:24033266|PMID:25741868|PMID:28492532
8751234	Itga7	integrin subunit alpha 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:24033266|PMID:25741868|PMID:28492532
8751234	Itga7	integrin subunit alpha 7	gene	DOID:9256	colorectal cancer		ISO	RGD:734343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:24033266|PMID:25741868|PMID:28492532
8751269	Rbm41	RNA binding motif protein 41	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8751269	Rbm41	RNA binding motif protein 41	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8751269	Rbm41	RNA binding motif protein 41	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8751269	Rbm41	RNA binding motif protein 41	gene	DOID:1115	sarcoma		ISO	RGD:1605361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8751269	Rbm41	RNA binding motif protein 41	gene	DOID:1324	lung cancer		ISO	RGD:1605361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8751269	Rbm41	RNA binding motif protein 41	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8751269	Rbm41	RNA binding motif protein 41	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751269	Rbm41	RNA binding motif protein 41	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8751269	Rbm41	RNA binding motif protein 41	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8751282	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8751282	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8751282	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8751282	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8751282	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1603635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8751282	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1603635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8751282	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8751282	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:3070	high grade glioma		ISO	RGD:1603635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8751282	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1603635	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8751282	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751282	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603635	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: neurodevelopmental disorder	PMID:25741868
8751282	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8751346	Cib1	calcium and integrin binding 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8751346	Cib1	calcium and integrin binding 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8751346	Cib1	calcium and integrin binding 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:620133	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain (human)	PMID:15885068|REF_RGD_ID:10401854
8751346	Cib1	calcium and integrin binding 1	gene	DOID:12858	Huntington's disease		ISO	RGD:732229	D	RGD:9068941	20200609	RGD		mRNA:increased expression:head of caudate nucleus (mouse)	PMID:24324398|REF_RGD_ID:10401859
8751346	Cib1	calcium and integrin binding 1	gene	DOID:1324	lung cancer		ISO	RGD:732228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8751346	Cib1	calcium and integrin binding 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8751346	Cib1	calcium and integrin binding 1	gene	DOID:4362	cervical cancer		ISO	RGD:732228	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8751346	Cib1	calcium and integrin binding 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751346	Cib1	calcium and integrin binding 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8751346	Cib1	calcium and integrin binding 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8751346	Cib1	calcium and integrin binding 1	gene	DOID:9006571	Epidermodysplasia Verruciformis 3		ISO	RGD:732228	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CIB1-related condition | ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3 | ClinVar Annotator: match by term: epidermodysplasia verruciformis, susceptibility to, 3	PMID:16199547|PMID:25741868|PMID:28492532|PMID:30068544|PMID:30503243
8751346	Cib1	calcium and integrin binding 1	gene	DOID:9006571	Epidermodysplasia Verruciformis 3	susceptibility	ISO	RGD:732228	D	RGD:7240710	20240320	OMIM			
8751346	Cib1	calcium and integrin binding 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8751367	Nudt12	nudix hydrolase 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8751367	Nudt12	nudix hydrolase 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8751367	Nudt12	nudix hydrolase 12	gene	DOID:10534	stomach cancer		ISO	RGD:1322074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8751367	Nudt12	nudix hydrolase 12	gene	DOID:1909	melanoma		ISO	RGD:1322074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8751367	Nudt12	nudix hydrolase 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1322074	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8751367	Nudt12	nudix hydrolase 12	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8751367	Nudt12	nudix hydrolase 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8751367	Nudt12	nudix hydrolase 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8751388	Rxra	retinoid X receptor alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8751388	Rxra	retinoid X receptor alpha	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:736929	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
8751388	Rxra	retinoid X receptor alpha	gene	DOID:10534	stomach cancer		ISO	RGD:736929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8751388	Rxra	retinoid X receptor alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8751388	Rxra	retinoid X receptor alpha	gene	DOID:1115	sarcoma		ISO	RGD:736929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8751388	Rxra	retinoid X receptor alpha	gene	DOID:11446	sciatic neuropathy		ISO	RGD:736929	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16782282
8751388	Rxra	retinoid X receptor alpha	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:11250	D	RGD:9068941	20240425	MouseDO			
8751388	Rxra	retinoid X receptor alpha	gene	DOID:12935	alcoholic cardiomyopathy		ISO	RGD:3610	D	RGD:9068941	20200609	RGD			PMID:19791468|REF_RGD_ID:2317465
8751388	Rxra	retinoid X receptor alpha	gene	DOID:1682	congenital heart disease		ISO	RGD:11250	D	RGD:9068941	20220825	MouseDO			
8751388	Rxra	retinoid X receptor alpha	gene	DOID:1790	malignant mesothelioma		ISO	RGD:736929	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
8751388	Rxra	retinoid X receptor alpha	gene	DOID:1793	pancreatic cancer		ISO	RGD:736929	D	RGD:9068941	20200609	RGD			PMID:19152448|REF_RGD_ID:2317462
8751388	Rxra	retinoid X receptor alpha	gene	DOID:3587	pancreatic ductal carcinoma	severity	ISO	RGD:736929	D	RGD:9068941	20200609	RGD			PMID:19396032|REF_RGD_ID:2317461
8751388	Rxra	retinoid X receptor alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:736929	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8751388	Rxra	retinoid X receptor alpha	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8751388	Rxra	retinoid X receptor alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751388	Rxra	retinoid X receptor alpha	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:3610	D	RGD:9068941	20200609	RGD		protein:decreased expression:prostate	PMID:15318950|REF_RGD_ID:1643115
8751388	Rxra	retinoid X receptor alpha	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:3610	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms	PMID:15318950|REF_RGD_ID:1643115
8751388	Rxra	retinoid X receptor alpha	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736929	D	RGD:9068941	20200609	RGD			PMID:15566521|REF_RGD_ID:1643114
8751388	Rxra	retinoid X receptor alpha	gene	DOID:9001579	Neurogenic Inflammation		ISO	RGD:3610	D	RGD:9068941	20200609	RGD		protein:increased expression:macrophage	PMID:16782282|REF_RGD_ID:1643108
8751388	Rxra	retinoid X receptor alpha	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:3610	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver	PMID:17786350|REF_RGD_ID:1643105
8751388	Rxra	retinoid X receptor alpha	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:3610	D	RGD:9068941	20200609	RGD		protein:decreased expression:prostate	PMID:15318950|REF_RGD_ID:1643115
8751388	Rxra	retinoid X receptor alpha	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736929	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15318950
8751388	Rxra	retinoid X receptor alpha	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:3610	D	RGD:9068941	20200609	RGD		mRNA:increased expression:sciatic nerve	PMID:16782282|REF_RGD_ID:1643108
8751388	Rxra	retinoid X receptor alpha	gene	DOID:9004484	Sepsis		ISO	RGD:3610	D	RGD:9068941	20200609	RGD		protein:altered localization:liver	PMID:19008781|REF_RGD_ID:2317466
8751388	Rxra	retinoid X receptor alpha	gene	DOID:9004484	Sepsis		ISO	RGD:3610	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:17483744|REF_RGD_ID:1643106
8751388	Rxra	retinoid X receptor alpha	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:736929	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23811263
8751388	Rxra	retinoid X receptor alpha	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:3610	D	RGD:9068941	20200609	RGD			PMID:16344269|REF_RGD_ID:1643109
8751388	Rxra	retinoid X receptor alpha	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:3610	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:17270546|REF_RGD_ID:1643107
8751388	Rxra	retinoid X receptor alpha	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:11250	D	RGD:9068941	20220825	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
8751388	Rxra	retinoid X receptor alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8751388	Rxra	retinoid X receptor alpha	gene	DOID:9538	multiple myeloma		ISO	RGD:736929	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
8751388	Rxra	retinoid X receptor alpha	gene	DOID:9970	obesity	susceptibility	ISO	RGD:11250	D	RGD:9068941	20200609	RGD			PMID:15936932|REF_RGD_ID:1643104
8751408	Vnn1	vanin 1	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1320770	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17145956
8751408	Vnn1	vanin 1	gene	DOID:10608	celiac disease		ISO	RGD:1320770	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
8751408	Vnn1	vanin 1	gene	DOID:3310	atopic dermatitis		ISO	RGD:1320770	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19322213
8751408	Vnn1	vanin 1	gene	DOID:3498	pancreatic ductal adenocarcinoma	disease_progression	ISO	RGD:1320770	D	RGD:9068941	20220303	RGD		protein:increased expression:blood (human)	PMID:32663515|REF_RGD_ID:151660329
8751408	Vnn1	vanin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320770	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8751408	Vnn1	vanin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320770	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8751408	Vnn1	vanin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751408	Vnn1	vanin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8751408	Vnn1	vanin 1	gene	DOID:8893	psoriasis		ISO	RGD:1320770	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19322213
8751408	Vnn1	vanin 1	gene	DOID:9003370	Dyslipidemias		ISO	RGD:1320770	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17873875
8751408	Vnn1	vanin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8751408	Vnn1	vanin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1348975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:735753	D	RGD:9068941	20220825	MouseDO			
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:0050758	metabolic acidosis		ISO	RGD:2282	D	RGD:9068941	20250403	RGD		associated with Aortic Calcification;protein:decreased expression:aorta	PMID:29420074|REF_RGD_ID:598099548
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:0060001	withdrawal disorder		ISO	RGD:1348975	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30158054
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:0060343	glucocorticoid-induced osteoporosis	treatment	ISO	RGD:2282	D	RGD:9068941	20250320	RGD			PMID:28363435|REF_RGD_ID:598092495
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:0080395	orofacial cleft 1		ISO	RGD:1348975	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Orofacial cleft 1	PMID:25741868
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:0111513	metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome		ISO	RGD:1348975	D	RGD:7240710	20180130	OMIM			
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:0111513	metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome		ISO	RGD:1348975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly | ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | ClinVar Annotator: match by term: RUNX2-related condition	PMID:10521292|PMID:10545612|PMID:10980549|PMID:11768584|PMID:11857736|PMID:12196916|PMID:16221346|PMID:19767586|PMID:20376792|PMID:20648631|PMID:21734816|PMID:22023169|PMID:24138303|PMID:24222232|PMID:24634175|PMID:25741868|PMID:28056872|PMID:28492532|PMID:28505335|PMID:32360898|PMID:33987976|PMID:9207800
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1348975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:11476	osteoporosis	treatment	ISO	RGD:2282	D	RGD:9068941	20250320	RGD		associated with alcohol use disorder	PMID:29698972|REF_RGD_ID:598092493
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1348975	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:13994	cleidocranial dysplasia		ISO	RGD:1348975	D	RGD:7240710	20180130	OMIM			
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:13994	cleidocranial dysplasia		ISO	RGD:1348975	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1 | ClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1, FORME FRUSTE, WITH BRACHYDACTYLY | ClinVar Annotator: match by term: Cleidocranial Dysplasia | ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia | ClinVar Annotator: match by term: cleidocranial dysplasia 1	PMID:10521292|PMID:10545612|PMID:10980549|PMID:11321595|PMID:11768584|PMID:11857736|PMID:12132307|PMID:12196916|PMID:12424590|PMID:15301373|PMID:16221346|PMID:19767586|PMID:20648631|PMID:20702542|PMID:21734816|PMID:23290074|PMID:23558979|PMID:23659235|PMID:24138303|PMID:24222232|PMID:24634175|PMID:25741868|PMID:26279653|PMID:26380986|PMID:26389062|PMID:27993330|PMID:28492532|PMID:28505335|PMID:28738062|PMID:29758562|PMID:29891876|PMID:30391578|PMID:31548836|PMID:33987976|PMID:34217350|PMID:9207800
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:13994	cleidocranial dysplasia	treatment	ISO	RGD:1348975	D	RGD:9068941	20250327	RGD			PMID:29357927|REF_RGD_ID:598092519
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:1612	breast cancer		ISO	RGD:1348975	D	RGD:9068941	20250320	RGD			PMID:32198086|REF_RGD_ID:598092494
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:2340	craniosynostosis		ISO	RGD:1348975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sagittal synostosis	PMID:25741868
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:3347	osteosarcoma		ISO	RGD:1348975	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24646477|PMID:25307878
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1348975	D	RGD:9068941	20210409	RGD		mRNA:increased expression:esophagus mucosa	PMID:18500170|REF_RGD_ID:126779568
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1348975	D	RGD:9068941	20220623	RGD		human cells in mouse model	PMID:30780105|REF_RGD_ID:152995466
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1348975	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:4676	uremia		ISO	RGD:1348975	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19092814
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348975	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:630	genetic disease		ISO	RGD:1348975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:674	cleft palate		ISO	RGD:1348975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:10545612|PMID:24222232|PMID:25741868|PMID:28492532
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1348975	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20008919
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:8398	osteoarthritis		ISO	RGD:1348975	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20008919
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9000380	Spondylarthritis		ISO	RGD:1348975	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20008919
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9000815	Aortic Calcification	treatment	ISO	RGD:2282	D	RGD:9068941	20250403	RGD			PMID:29420074|REF_RGD_ID:598099548
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:2282	D	RGD:9068941	20250322	RGD			PMID:34902518|REF_RGD_ID:598092504
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9002407	Spinal Fractures	susceptibility	ISO	RGD:1348975	D	RGD:9068941	20250320	RGD		DNA:SNP::In rs7771980(human)	PMID:24570271|REF_RGD_ID:598092492
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9002589	Bone Fractures		ISO	RGD:2282	D	RGD:9068941	20200609	RGD			PMID:21252473|REF_RGD_ID:11252151
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9002589	Bone Fractures	treatment	ISO	RGD:2282	D	RGD:9068941	20250327	RGD			PMID:26345541|REF_RGD_ID:11572049
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9003049	Femur Head Necrosis	susceptibility	ISO	RGD:1348975	D	RGD:9068941	20250320	RGD		DNA:SNP: :rs3763190	PMID:28476574|REF_RGD_ID:598092497
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9003295	Heterotopic Ossification		ISO	RGD:2282	D	RGD:9068941	20200609	RGD			PMID:19940863|REF_RGD_ID:12880052
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9004912	Hyperoxaluria		ISO	RGD:2282	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:26122267|REF_RGD_ID:11251713
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1348975	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30158054
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:1348975	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374069
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9006332	Vascular Calcification	treatment	ISO	RGD:2282	D	RGD:9068941	20250327	RGD		associated with chronic kidney disease;	PMID:31866376|REF_RGD_ID:598092521
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9006733	Stomatognathic System Abnormalities		ISO	RGD:1348975	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20357738
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9007917	Supernumerary Tooth		ISO	RGD:1348975	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Teeth, supernumerary	PMID:10545612|PMID:10980549|PMID:11768584|PMID:12196916|PMID:16221346|PMID:24138303|PMID:25741868|PMID:28492532
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9008	psoriatic arthritis		ISO	RGD:1348975	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20008919
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1348975	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14688224
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1348975	D	RGD:9068941	20200702	CTD		CTD Direct Evidence: marker/mechanism	PMID:32198086
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9009007	Tooth Abnormalities		ISO	RGD:1348975	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14688224
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9009041	Temporomandibular Ankylosis		ISO	RGD:2282	D	RGD:9068941	20250322	RGD		mRNA,protein:decreased expression:Temporomandibular joint	PMID:36494653|REF_RGD_ID:598092507
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1348975	D	RGD:9068941	20210409	RGD			PMID:25925209|REF_RGD_ID:126779569
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9296	cleft lip		ISO	RGD:1348975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:10545612|PMID:24222232|PMID:25741868|PMID:28492532
8751440	Runx2	RUNX family transcription factor 2	gene	DOID:9744	type 1 diabetes mellitus	treatment	ISO	RGD:2282	D	RGD:9068941	20250320	RGD			PMID:31096652|REF_RGD_ID:598092496
8751490	Shroom2	shroom family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8751490	Shroom2	shroom family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8751490	Shroom2	shroom family member 2	gene	DOID:1115	sarcoma		ISO	RGD:1343092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8751490	Shroom2	shroom family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1343092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8751490	Shroom2	shroom family member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8751490	Shroom2	shroom family member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8751490	Shroom2	shroom family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343092	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8751490	Shroom2	shroom family member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8751490	Shroom2	shroom family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751490	Shroom2	shroom family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8751490	Shroom2	shroom family member 2	gene	DOID:9849	Meniere's disease		ISO	RGD:1343092	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Meniere disease	PMID:25741868
8751525	Ciao2b	cytosolic iron-sulfur assembly component 2B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder cancer	
8751525	Ciao2b	cytosolic iron-sulfur assembly component 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1602116	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8751525	Ciao2b	cytosolic iron-sulfur assembly component 2B	gene	DOID:6039	uveal melanoma		ISO	RGD:1602116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8751525	Ciao2b	cytosolic iron-sulfur assembly component 2B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8751525	Ciao2b	cytosolic iron-sulfur assembly component 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8751525	Ciao2b	cytosolic iron-sulfur assembly component 2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8751534	Espnl	espin like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8751534	Espnl	espin like	gene	DOID:10534	stomach cancer		ISO	RGD:1602816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8751534	Espnl	espin like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8751534	Espnl	espin like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751534	Espnl	espin like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8751534	Espnl	espin like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8751547	Ccdc170	coiled-coil domain containing 170	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8751547	Ccdc170	coiled-coil domain containing 170	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8751547	Ccdc170	coiled-coil domain containing 170	gene	DOID:1909	melanoma		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8751547	Ccdc170	coiled-coil domain containing 170	gene	DOID:4362	cervical cancer		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8751547	Ccdc170	coiled-coil domain containing 170	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751547	Ccdc170	coiled-coil domain containing 170	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8751547	Ccdc170	coiled-coil domain containing 170	gene	DOID:9002239	Estrogen Resistance		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Estrogen resistance | ClinVar Annotator: match by term: Estrogen resistance syndrome	PMID:33116287
8751547	Ccdc170	coiled-coil domain containing 170	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8751547	Ccdc170	coiled-coil domain containing 170	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8751576	Nudt18	nudix hydrolase 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8751576	Nudt18	nudix hydrolase 18	gene	DOID:10534	stomach cancer		ISO	RGD:1605623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8751576	Nudt18	nudix hydrolase 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8751576	Nudt18	nudix hydrolase 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8751594	E2f8	E2F transcription factor 8	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1605946	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29754146
8751594	E2f8	E2F transcription factor 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605946	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8751594	E2f8	E2F transcription factor 8	gene	DOID:9000918	Disease Progression		ISO	RGD:1605946	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29754146
8751594	E2f8	E2F transcription factor 8	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1605946	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27683099
8751627	Mfrp	membrane frizzled-related protein	gene	DOID:0060837	isolated microphthalmia 5		ISO	RGD:1316695	D	RGD:7240710	20180130	OMIM			
8751627	Mfrp	membrane frizzled-related protein	gene	DOID:0060869	late-onset retinal degeneration		ISO	RGD:10050295|RGD:10051646|RGD:11578947|RGD:11579720|RGD:11580356|RGD:11580772|RGD:11582836|RGD:11583018|RGD:11584957|RGD:11585737|RGD:11585836|RGD:11588128|RGD:11588342|RGD:11588762|RGD:11589058|RGD:11589212|RGD:11589776|RGD:11591864|RGD:11592636|RGD:11593157|RGD:11593487|RGD:11593812|RGD:11599309|RGD:11603558|RGD:11606038|RGD:11612305|RGD:11612398|RGD:11621506|RGD:11651139|RGD:13516988|RGD:13522898|RGD:26896604|RGD:28897422|RGD:28897426|RGD:28900904|RGD:28904435|RGD:28907362|RGD:28910099|RGD:405115260	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: C1QTNF5-related condition | ClinVar Annotator: match by term: Late-onset retinal degeneration	PMID:28492532
8751627	Mfrp	membrane frizzled-related protein	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1316695	D	RGD:9068941	20250724	RGD		DNA:deletio:exon:c.498delC(P.166PfsX26)(human)	PMID:22605927|REF_RGD_ID:11553921
8751627	Mfrp	membrane frizzled-related protein	gene	DOID:10629	microphthalmia		ISO	RGD:1316695	D	RGD:9068941	20200609	RGD		DNA:nonsense mutations:exons:c.271C>T,c.498dupC(human)	PMID:23742260|REF_RGD_ID:11553922
8751627	Mfrp	membrane frizzled-related protein	gene	DOID:11105	fundus albipunctatus		ISO	RGD:1620492	D	RGD:9068941	20220825	MouseDO		OMIM:136880	
8751627	Mfrp	membrane frizzled-related protein	gene	DOID:8466	retinal degeneration		ISO	RGD:1620492	D	RGD:9068941	20250724	RGD		DNA:mutation:splice junction:	PMID:12140190|REF_RGD_ID:11553928
8751627	Mfrp	membrane frizzled-related protein	gene	DOID:8466	retinal degeneration	treatment	ISO	RGD:1620492	D	RGD:9068941	20200609	RGD			PMID:22142163|REF_RGD_ID:11553878
8751627	Mfrp	membrane frizzled-related protein	gene	DOID:9002122	Nanophthalmos 2		ISO	RGD:1316695	D	RGD:7240710	20180130	OMIM			
8751627	Mfrp	membrane frizzled-related protein	gene	DOID:9002594	High Hyperopia		ISO	RGD:1316695	D	RGD:9068941	20200609	RGD		DNA:missense, deletion, duplication mutations:cds:	PMID:26583794|REF_RGD_ID:11076374
8751649	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8751649	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1343968	D	RGD:9068941	20200609	RGD		mRNA:splice variant:bone marrow, hematopoietic stem cell (human)	PMID:24244432|REF_RGD_ID:11038800
8751649	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8751649	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1343968	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8751649	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:1324	lung cancer		ISO	RGD:1343968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8751649	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:3070	high grade glioma		ISO	RGD:1343968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8751649	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:4362	cervical cancer		ISO	RGD:1343968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8751649	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1343968	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8751649	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751649	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8751649	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8751649	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8751649	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8751678	Slc25a31	solute carrier family 25 member 31	gene	DOID:10534	stomach cancer		ISO	RGD:1606496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8751678	Slc25a31	solute carrier family 25 member 31	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8751688	Kiaa1191	KIAA1191 ortholog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8751688	Kiaa1191	KIAA1191 ortholog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8751688	Kiaa1191	KIAA1191 ortholog	gene	DOID:10534	stomach cancer		ISO	RGD:1601743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8751688	Kiaa1191	KIAA1191 ortholog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751688	Kiaa1191	KIAA1191 ortholog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8751688	Kiaa1191	KIAA1191 ortholog	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1601743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8751688	Kiaa1191	KIAA1191 ortholog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8751739	Best4	bestrophin 4	gene	DOID:0060058	lymphoma		ISO	RGD:1344321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8751773	Mrpl47	mitochondrial ribosomal protein L47	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8751773	Mrpl47	mitochondrial ribosomal protein L47	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8751773	Mrpl47	mitochondrial ribosomal protein L47	gene	DOID:5041	esophageal cancer		ISO	RGD:1316780	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8751773	Mrpl47	mitochondrial ribosomal protein L47	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751773	Mrpl47	mitochondrial ribosomal protein L47	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8751773	Mrpl47	mitochondrial ribosomal protein L47	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8751788	Slc22a14	solute carrier family 22 member 14	gene	DOID:10534	stomach cancer		ISO	RGD:1315106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8751788	Slc22a14	solute carrier family 22 member 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8751788	Slc22a14	solute carrier family 22 member 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751788	Slc22a14	solute carrier family 22 member 14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8751788	Slc22a14	solute carrier family 22 member 14	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8751788	Slc22a14	solute carrier family 22 member 14	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8751788	Slc22a14	solute carrier family 22 member 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8751807	Grpel1	GrpE like 1, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8751807	Grpel1	GrpE like 1, mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8751807	Grpel1	GrpE like 1, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1345534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8751807	Grpel1	GrpE like 1, mitochondrial	gene	DOID:1115	sarcoma		ISO	RGD:1345534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8751807	Grpel1	GrpE like 1, mitochondrial	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:70947	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebral cortex	PMID:12505684|REF_RGD_ID:632868
8751807	Grpel1	GrpE like 1, mitochondrial	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1345534	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8751807	Grpel1	GrpE like 1, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751822	Cmklr2	chemerin chemokine-like receptor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:0050453	lissencephaly		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrogyria	PMID:25741868|PMID:25915598|PMID:28492532|PMID:33619735
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:0050861	colorectal adenocarcinoma	severity	ISO	RGD:68584	D	RGD:9068941	20200609	RGD		DNA:amplification: (human)	PMID:17289873|REF_RGD_ID:9693694
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:68584	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:25741868
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:10534	stomach cancer		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:1059	intellectual disability		ISO	RGD:68584	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome	PMID:25741868|PMID:26264464|PMID:26818738|PMID:28492532|PMID:32581362|PMID:32860008
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:1059	intellectual disability		ISO	RGD:68584	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:12849	autistic disorder		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:25915598|PMID:28492532|PMID:33619735
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:1324	lung cancer		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:13417	alexia		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alexia	PMID:25741868|PMID:25915598|PMID:28492532|PMID:33619735
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:1459	hypothyroidism		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868|PMID:25915598|PMID:28492532|PMID:33619735
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:1824	status epilepticus		ISO	RGD:68584	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:25741868|PMID:28492532
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:1826	epilepsy		ISO	RGD:68584	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizures	PMID:23020937|PMID:25741868|PMID:25915598|PMID:26264464|PMID:26818738|PMID:28492532|PMID:32581362|PMID:33594261|PMID:33619735|PMID:36285361|PMID:38764027
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868|PMID:28492532
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:28492532
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:1909	melanoma		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:2234	focal epilepsy		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:23020937|PMID:25741868|PMID:25915598|PMID:26264464|PMID:28492532|PMID:33619735|PMID:36285361
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:2841	asthma		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:3275	thymoma		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:3347	osteosarcoma		ISO	RGD:68584	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22248279
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:4428	dyslexia		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	PMID:25741868|PMID:25915598|PMID:28492532|PMID:33619735
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:68584	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney (human)	PMID:18777199|REF_RGD_ID:9693695
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:4702	mongolian spot		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	PMID:25741868|PMID:25915598|PMID:28492532|PMID:33619735
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:630	genetic disease		ISO	RGD:68584	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25915598|PMID:27516594|PMID:28492532|PMID:33619735
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:25915598|PMID:28492532|PMID:33619735
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:9000373	Muscle Cramp		ISO	RGD:68584	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle cramps	
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:9001581	Constipation		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:25915598|PMID:28492532|PMID:33619735
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:9002680	Zimmermann-Laband Syndrome 1		ISO	RGD:68584	D	RGD:7240710	20191113	OMIM			
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:9002680	Zimmermann-Laband Syndrome 1		ISO	RGD:68584	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: KCNH1-related condition | ClinVar Annotator: match by term: ZIMMERMANN-LABAND SYNDROME 1 | ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1	PMID:16199547|PMID:25741868|PMID:25915598|PMID:27267311|PMID:28492532|PMID:31957018|PMID:33619735
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:25915598|PMID:28492532|PMID:33619735
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:9004260	Zimmerman Laband Syndrome		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Laband syndrome	
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:68584	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:68584	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:23020937|PMID:25741868|PMID:25915598|PMID:26264464|PMID:26818738|PMID:28492532|PMID:32581362|PMID:33594261|PMID:33619735|PMID:36285361|PMID:38764027
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:68584	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:25915598|PMID:28492532|PMID:33619735
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:9007410	Temple-Baraitser syndrome		ISO	RGD:68584	D	RGD:7240710	20180130	OMIM			
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:9007410	Temple-Baraitser syndrome		ISO	RGD:68584	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Severe mental retardation and absent nails of hallux and pollex | ClinVar Annotator: match by term: TEMPLE-BARAITSER SYNDROME | ClinVar Annotator: match by term: Temple-Baraitser syndrome	PMID:23020937|PMID:25420144|PMID:25741868|PMID:25915598|PMID:26264464|PMID:28492532|PMID:33619735|PMID:36285361
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:9007661	Dwarfism		ISO	RGD:68584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:68584	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:25915598|PMID:28492532|PMID:33619735
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:68584	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8751829	Kcnh1	potassium voltage-gated channel subfamily H member 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:68584	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17520698
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:619552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:18414213|PMID:25741868|PMID:28492532
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:619552	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0050581	brachydactyly		ISO	RGD:619552	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:27311832|PMID:28492532|PMID:29159939|PMID:29460469|PMID:30892814|PMID:37091313
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0050847	sleep apnea		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0050873	follicular lymphoma		ISO	RGD:619552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24362818
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:619553	D	RGD:9068941	20220825	MouseDO		OMIM:614286	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:619553	D	RGD:9068941	20220825	MouseDO			
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:619552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0060249	scoliosis		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:27311832|PMID:29159939|PMID:29460469|PMID:30892814
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0060260	ptosis		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0060604	ankyloglossia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ankyloglossia	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:25741868|PMID:27311832|PMID:29159939|PMID:29460469|PMID:30892814
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0070210	hereditary lymphedema IA		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema of the dorsum of feet	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0070297	primary microcephaly		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0070309	absence epilepsy		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0080016	spina bifida		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spinal dysraphism	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:619552	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:22722829|PMID:24710217|PMID:26956253|PMID:27993330|PMID:28726821
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0080703	medulloblastoma SHH activated		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated	PMID:27993330
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0080706	medulloblastoma non-WNT/non-SHH		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH	PMID:22722829|PMID:24710217|PMID:27993330|PMID:28726821|PMID:33741928
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0081286	embryonal tumor with multilayered rosettes		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Embryonal tumor with multilayered rosettes	PMID:27993330
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:28492532
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0110214	cleft soft palate		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft soft palate	PMID:18414213|PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0110599	primary ciliary dyskinesia 3		ISO	RGD:619552	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia 3	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:0111568	congenital vertical talus		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital vertical talus	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:10348	blepharophimosis		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	PMID:25741868|PMID:26559152|PMID:28492532
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Profound intellectual disability	PMID:16199547|PMID:17052327|PMID:18414213|PMID:18792986|PMID:25741868|PMID:27311832|PMID:28492532|PMID:29132461|PMID:29159939|PMID:29460469|PMID:30737887|PMID:30892814|PMID:32827181|PMID:34652060|PMID:35904974|PMID:7630403
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:619552	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Profound intellectual disability	PMID:16199547|PMID:17052327|PMID:18414213|PMID:18792986|PMID:25741868|PMID:27311832|PMID:28492532|PMID:29132461|PMID:29159939|PMID:29460469|PMID:30737887|PMID:30892814|PMID:32827181|PMID:34652060|PMID:7630403
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:619552	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Profound intellectual disability	PMID:16199547|PMID:17052327|PMID:18414213|PMID:18792986|PMID:25741868|PMID:27311832|PMID:28492532|PMID:29132461|PMID:29159939|PMID:29460469|PMID:30737887|PMID:30892814|PMID:32827181|PMID:34652060|PMID:37091313|PMID:7630403
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:10591	pre-eclampsia		ISO	RGD:619552	D	RGD:9068941	20220915	RGD		mRNA:decreased expression:placenta (human)	PMID:33625689|REF_RGD_ID:153350159
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:619553	D	RGD:9068941	20200609	RGD			PMID:21149712|REF_RGD_ID:10059608
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:619553	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:hippocampus:	PMID:17760871|REF_RGD_ID:10059609
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:10907	microcephaly		ISO	RGD:619552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:18414213|PMID:25741868|PMID:27311832|PMID:28492532|PMID:29159939|PMID:29460469|PMID:30892814|PMID:7630403
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:10908	hydrocephalus		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aqueductal stenosis	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:27311832|PMID:28492532|PMID:29460469
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:16199547|PMID:16359492|PMID:17052327|PMID:18414213|PMID:18792986|PMID:25388907|PMID:25741868|PMID:28492532|PMID:28970362|PMID:35101336
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:11162	respiratory failure		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:25741868|PMID:28492532
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:11193	syndactyly		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndactyly	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:11383	cryptorchidism		ISO	RGD:619552	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:7630403
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:1143	exotropia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:1148	polydactyly		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:11830	myopia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:12449	aplastic anemia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aplastic anemia	PMID:25741868|PMID:7630403
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:12849	autistic disorder		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:12858	Huntington's disease		ISO	RGD:619552	D	RGD:9068941	20200609	RGD			PMID:11264541|REF_RGD_ID:13432093
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:12858	Huntington's disease		ISO	RGD:619553	D	RGD:9068941	20200609	RGD			PMID:11264541|REF_RGD_ID:13432093
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:12858	Huntington's disease	disease_progression	ISO	RGD:619553	D	RGD:9068941	20200609	RGD			PMID:20448484|REF_RGD_ID:13432094
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:12858	Huntington's disease	treatment	ISO	RGD:619553	D	RGD:9068941	20200609	RGD		protein:altered localization:nucleus	PMID:19291221|REF_RGD_ID:10059583
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:13620	patent foramen ovale		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:21390126|PMID:25741868|PMID:28970362|PMID:29551561|PMID:35101336
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:1574	alcohol use disorder		ISO	RGD:2401	D	RGD:9068941	20231214	RGD		mRNA, protein:decreased expression:amygdala	PMID:29991681|REF_RGD_ID:401938626
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:1657	ventricular septal defect		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:1682	congenital heart disease		ISO	RGD:619552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868|PMID:7630403
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:1686	glaucoma		ISO	RGD:619552	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Glaucoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:619552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27158780
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:27311832|PMID:28492532|PMID:29159939|PMID:29460469|PMID:30737887|PMID:30892814|PMID:34652060
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:1827	generalized epilepsy		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868|PMID:27311832|PMID:28492532|PMID:29460469
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:1882	atrial heart septal defect		ISO	RGD:619552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:20684013|PMID:25741868|PMID:28492532|PMID:29460469|PMID:30755392
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:1909	melanoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:1933	Rubinstein-Taybi syndrome		ISO	RGD:619552	D	RGD:7240710	20180130	OMIM			
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:1933	Rubinstein-Taybi syndrome		ISO	RGD:619552	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: BROAD THUMB-HALLUX SYNDROME | ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: RUBINSTEIN SYNDROME | ClinVar Annotator: match by term: RUBINSTEIN-TAYBI SYNDROME 2 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2	PMID:11331617|PMID:12070251|PMID:12114483|PMID:12566391|PMID:14974086|PMID:15706485|PMID:16021471|PMID:16199547|PMID:16359492|PMID:16980541|PMID:17052327|PMID:17576681|PMID:17942008|PMID:18414213|PMID:18792986|PMID:19852432|PMID:20358623|PMID:20583168|PMID:20684013|PMID:20689175|PMID:21390126|PMID:21680795|PMID:21796119|PMID:21932317|PMID:21984751|PMID:22591219|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:24088041|PMID:24728327|PMID:25108505|PMID:25388907|PMID:25599811|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25805166|PMID:26087898|PMID:26486927|PMID:26580448|PMID:26619011|PMID:26633545|PMID:26788536|PMID:26956253|PMID:27257180|PMID:27311832|PMID:27899157|PMID:28492532|PMID:28523540|PMID:28600779|PMID:28970362|PMID:29132461|PMID:29359884|PMID:29460469|PMID:29551561|PMID:30029678|PMID:30586318|PMID:30587507|PMID:30737887|PMID:30755392|PMID:31566936|PMID:31637876|PMID:31981491|PMID:32170002|PMID:32386048|PMID:32601476|PMID:32827181|PMID:33502061|PMID:33560380|PMID:33747050|PMID:34652060|PMID:35904974|PMID:36474027|PMID:37091313|PMID:38553851|PMID:7630403|PMID:8967953|PMID:9536098
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:1933	Rubinstein-Taybi syndrome		ISO	RGD:619552	D	RGD:8554872	20260721	ClinVar		ClinVar Annotator: match by term: BROAD THUMB-HALLUX SYNDROME | ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: CREBBP-related disorder | ClinVar Annotator: match by term: RUBINSTEIN SYNDROME | ClinVar Annotator: match by term: RUBINSTEIN-TAYBI SYNDROME 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome-1	PMID:12070251|PMID:12114483|PMID:12566391|PMID:14974086|PMID:15706485|PMID:16021471|PMID:16199547|PMID:16359492|PMID:16980541|PMID:17052327|PMID:17460549|PMID:17576681|PMID:17942008|PMID:18414213|PMID:18792986|PMID:19852432|PMID:20301699|PMID:20358623|PMID:20583168|PMID:20684013|PMID:20689175|PMID:21390126|PMID:21932317|PMID:21984751|PMID:22591219|PMID:23619509|PMID:24728327|PMID:25108505|PMID:25388907|PMID:25640679|PMID:25741868|PMID:25805166|PMID:26580448|PMID:26788536|PMID:27311832|PMID:27899157|PMID:28492532|PMID:28600779|PMID:29132461|PMID:29359884|PMID:29460469|PMID:30587507|PMID:30737887|PMID:30755392|PMID:31566936|PMID:31637876|PMID:31981491|PMID:32170002|PMID:32386048|PMID:32601476|PMID:32827181|PMID:33063428|PMID:33502061|PMID:33747050|PMID:34652060|PMID:35101336|PMID:35626936|PMID:35833092|PMID:35986282|PMID:36964972|PMID:37091313|PMID:38553851|PMID:39285472|PMID:7630403|PMID:8967953|PMID:9536098
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:2340	craniosynostosis		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Trigonocephaly	PMID:25741868|PMID:27311832|PMID:29159939|PMID:29460469|PMID:30892814
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:255	hemangioma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:619552	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822268
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:2841	asthma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:3070	high grade glioma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:3234	central nervous system lymphoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary central nervous system lymphoma	PMID:27993330
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:3307	teratoma		ISO	RGD:619552	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:3459	breast carcinoma		ISO	RGD:619552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:7630403
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:3490	Noonan syndrome		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Noonan syndrome	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:619552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151357
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:3846	adamantinous craniopharyngioma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adamantinous craniopharyngioma	PMID:27993330|PMID:38421446
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:619552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27158780
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:3963	thyroid gland carcinoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid gland carcinoma	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:4001	ovarian carcinoma		ISO	RGD:619552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ovarian carcinoma	PMID:25741868|PMID:7630403
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:420	hypertrichosis		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:4667	kyphosis		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:4851	pilocytic astrocytoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pilocytic astrocytoma	PMID:27993330|PMID:36854806
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:5327	retinal detachment		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal detachment	PMID:25741868|PMID:27311832|PMID:29159939|PMID:29460469|PMID:30892814
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:5374	pilomatrixoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pilomatrixoma	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:540	strabismus		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:27311832|PMID:29460469|PMID:30737887|PMID:34652060
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:619552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941188
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:552	pneumonia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:25741868|PMID:28492532
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:576	proteinuria		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: proteinuria	PMID:25741868|PMID:28492532
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:630	genetic disease		ISO	RGD:619552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11023789|PMID:12114483|PMID:16021471|PMID:17460549|PMID:17576681|PMID:18414213|PMID:18792986|PMID:19651603|PMID:20684013|PMID:20689175|PMID:23619509|PMID:23651431|PMID:23934153|PMID:24521098|PMID:25388907|PMID:25741868|PMID:25741869|PMID:28492532|PMID:29460469|PMID:30544257|PMID:30755392|PMID:34516402|PMID:37091313|PMID:38553851|PMID:9215639|PMID:9536098
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:630	genetic disease		ISO	RGD:619552	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11023789|PMID:12114483|PMID:17460549|PMID:17576681|PMID:18414213|PMID:18792986|PMID:19651603|PMID:20684013|PMID:20689175|PMID:23619509|PMID:23651431|PMID:23934153|PMID:24521098|PMID:25388907|PMID:25741868|PMID:25741869|PMID:28492532|PMID:29460469|PMID:30544257|PMID:30755392|PMID:34516402|PMID:37091313|PMID:38553851|PMID:9215639|PMID:9536098
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:674	cleft palate		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868|PMID:28492532
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:769	neuroblastoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuroblastoma	PMID:23334666|PMID:27993330|PMID:33381456
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:8488	polyhydramnios		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:8541	Sezary's disease		ISO	RGD:619552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26551667
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9000586	Vocal Cord Paralysis		ISO	RGD:619552	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vocal cord paralysis	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9001031	Retrognathia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:18414213|PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:18414213|PMID:25741868|PMID:28492532
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9001502	Congenital Microtia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9001510	Funnel Chest		ISO	RGD:619552	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9001581	Constipation		ISO	RGD:619552	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:27311832|PMID:29460469|PMID:30737887|PMID:34652060
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus flammeus	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type I malformation	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9001934	Neonatal Sepsis		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal sepsis	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:619552	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Corpus callosum agenesis	PMID:12070251|PMID:12114483|PMID:16359492|PMID:17052327|PMID:18792986|PMID:20689175|PMID:25741868|PMID:28492532|PMID:32170002|PMID:32827181
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9002134	Heart Murmurs		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9002189	High Myopia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intrauterine growth retardation	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:619552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378487|PMID:25735316
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9003133	Hypertelorism		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9003137	Photophobia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Photophobia	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9003748	Thumb Deformity		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumb deformity	PMID:18414213|PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9003816	Macrocephaly		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9003837	Au-Kline Syndrome		ISO	RGD:619552	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Kabuki-like syndrome	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9004108	Fused Kidney		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9004507	Hirsutism		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868|PMID:27311832|PMID:29159939|PMID:29460469|PMID:30892814
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9004538	Hearing Loss		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:619552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:20684013|PMID:25741868|PMID:28492532|PMID:29460469|PMID:30755392
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9004866	Ataxia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:18414213|PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9005077	Joint Instability		ISO	RGD:619552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:20684013|PMID:25741868|PMID:28492532|PMID:29460469|PMID:30755392
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9005466	Language Development Disorders		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868|PMID:27311832|PMID:28492532|PMID:29460469
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:18414213|PMID:25741868|PMID:28492532
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:619552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:18414213|PMID:20684013|PMID:25741868|PMID:28492532|PMID:29460469|PMID:30755392
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9005616	Micrognathism		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:18414213|PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9005809	Thyroid Nodule		ISO	RGD:619552	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid nodule	PMID:25741868|PMID:7630403
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9006588	Trismus		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trismus	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9006637	Schizencephaly		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizencephaly	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:619552	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9006827	Lung Reperfusion Injury	ameliorates	ISO	RGD:619553	D	RGD:9068941	20220915	RGD			PMID:34238924|REF_RGD_ID:153350155
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9007559	Thyroglossal Cyst		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroglossal cyst	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9007573	Flatfoot		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:27311832|PMID:29159939|PMID:29460469|PMID:30892814
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9007661	Dwarfism		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature | ClinVar Annotator: match by term: short stature	PMID:18414213|PMID:25741868|PMID:27311832|PMID:29159939|PMID:29460469|PMID:30737887|PMID:30892814|PMID:34652060
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9007661	Dwarfism		ISO	RGD:619552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:18414213|PMID:25741868|PMID:27311832|PMID:29159939|PMID:29460469|PMID:30737887|PMID:30892814|PMID:34652060|PMID:7630403
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:2401	D	RGD:9068941	20220915	RGD			PMID:24338162|REF_RGD_ID:153352322
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:18414213|PMID:25741868|PMID:27311832|PMID:28492532|PMID:29460469|PMID:30737887|PMID:34652060
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9008305	Talipes Cavus		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:28492532|PMID:37091313
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9008589	Hallux Valgus		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9008706	Menke-Hennekam Syndrome		ISO	RGD:619552	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Menke-Hennekam syndrome	PMID:25741868|PMID:27311832|PMID:29159939|PMID:29460469|PMID:30892814
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9008811	Tachypnea		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9008974	Menke-Hennekam Syndrome 1		ISO	RGD:619552	D	RGD:7240710	20190315	OMIM			
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9008974	Menke-Hennekam Syndrome 1		ISO	RGD:619552	D	RGD:8554872	20260721	ClinVar		ClinVar Annotator: match by term: CREBBP-related disorder | ClinVar Annotator: match by term: MENKE-HENNEKAM SYNDROME 1 | ClinVar Annotator: match by term: Menke-Hennekam syndrome 1	PMID:11023789|PMID:12070251|PMID:15706485|PMID:16199547|PMID:16980541|PMID:17052327|PMID:17576681|PMID:17942008|PMID:18414213|PMID:18792986|PMID:19651603|PMID:25741868|PMID:25741869|PMID:27311832|PMID:28492532|PMID:29132461|PMID:29159939|PMID:29460469|PMID:30029678|PMID:30544257|PMID:30892814|PMID:31566936|PMID:32827181|PMID:34652060|PMID:37091313|PMID:37246193|PMID:38553851|PMID:9215639|PMID:9536098
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9009021	Plagiocephaly		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:28492532
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:27993330|PMID:30942411|PMID:36634304
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9351	diabetes mellitus		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:25741868|PMID:7630403
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9538	multiple myeloma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	PMID:28492532
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9834	hyperopia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:18414213|PMID:25741868
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9840	esotropia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:28492532
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9952	acute lymphoblastic leukemia	disease_progression	ISO	RGD:619552	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple	PMID:25917266|REF_RGD_ID:11060149
8751857	Crebbp	CREB binding lysine acetyltransferase	gene	DOID:9970	obesity		ISO	RGD:619552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:7630403
8751904	Kdm4d	lysine demethylase 4D	gene	DOID:2154	nephroblastoma		ISO	RGD:1353550	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney (human)	PMID:24219278|REF_RGD_ID:9588525
8751904	Kdm4d	lysine demethylase 4D	gene	DOID:5041	esophageal cancer		ISO	RGD:1353550	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8751981	Kremen1	kringle containing transmembrane protein 1	gene	DOID:0050883	infantile cerebellar-retinal degeneration		ISO	RGD:733267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration	PMID:25741868
8751981	Kremen1	kringle containing transmembrane protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733267	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8751981	Kremen1	kringle containing transmembrane protein 1	gene	DOID:0111650	ectodermal dysplasia 13		ISO	RGD:733267	D	RGD:7240710	20190315	OMIM			
8751981	Kremen1	kringle containing transmembrane protein 1	gene	DOID:0111650	ectodermal dysplasia 13		ISO	RGD:733267	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE | ClinVar Annotator: match by term: Ectodermal dysplasia 13, hair/tooth type	PMID:25741868
8751981	Kremen1	kringle containing transmembrane protein 1	gene	DOID:1909	melanoma		ISO	RGD:733267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8751981	Kremen1	kringle containing transmembrane protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8751981	Kremen1	kringle containing transmembrane protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:733267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8751981	Kremen1	kringle containing transmembrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751981	Kremen1	kringle containing transmembrane protein 1	gene	DOID:630	genetic disease		ISO	RGD:733267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8751981	Kremen1	kringle containing transmembrane protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8751981	Kremen1	kringle containing transmembrane protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8751996	Serpinb7	serpin family B member 7	gene	DOID:0050831	familial encephalopathy with neuroserpin inclusion bodies		ISO	RGD:736732	D	RGD:9068941	20200609	RGD			PMID:16782060|REF_RGD_ID:7207386
8751996	Serpinb7	serpin family B member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8751996	Serpinb7	serpin family B member 7	gene	DOID:0070555	Nagashima-type palmoplantar keratosis		ISO	RGD:736732	D	RGD:7240710	20180130	OMIM			
8751996	Serpinb7	serpin family B member 7	gene	DOID:0070555	Nagashima-type palmoplantar keratosis		ISO	RGD:736732	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE | ClinVar Annotator: match by term: Palmoplantar keratoderma, Nagashima type | ClinVar Annotator: match by term: SERPINB7-related condition	PMID:24514002|PMID:25741868|PMID:27543371|PMID:27569382|PMID:27666198|PMID:28439958|PMID:28492532|PMID:30256384|PMID:33362511
8751996	Serpinb7	serpin family B member 7	gene	DOID:10952	nephritis		ISO	RGD:71063	D	RGD:9068941	20200609	RGD			PMID:11473647|REF_RGD_ID:70611
8751996	Serpinb7	serpin family B member 7	gene	DOID:1324	lung cancer		ISO	RGD:736732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8751996	Serpinb7	serpin family B member 7	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:736732	D	RGD:9068941	20200609	RGD		DNA:SNP:5' utr, exon:267G>A (human)	PMID:16796905|REF_RGD_ID:7207380
8751996	Serpinb7	serpin family B member 7	gene	DOID:2986	IgA glomerulonephritis	disease_progression	ISO	RGD:736732	D	RGD:9068941	20200609	RGD		DNA:SNPs:3' utr:2093C>T, 2180C>T (human)	PMID:18793525|REF_RGD_ID:7207366
8751996	Serpinb7	serpin family B member 7	gene	DOID:3390	palmoplantar keratosis		ISO	RGD:736732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Palmoplantar keratodermas	PMID:24207119|PMID:24514002|PMID:24773080|PMID:25741868|PMID:27543371|PMID:27666198|PMID:28492532|PMID:35178744
8751996	Serpinb7	serpin family B member 7	gene	DOID:4362	cervical cancer		ISO	RGD:736732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8751996	Serpinb7	serpin family B member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8751996	Serpinb7	serpin family B member 7	gene	DOID:630	genetic disease		ISO	RGD:736732	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8751996	Serpinb7	serpin family B member 7	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:736732	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1	PMID:16443768|REF_RGD_ID:7207374
8751996	Serpinb7	serpin family B member 7	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:736732	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:SNP:intron:rs1720843 (human)	PMID:19690890|REF_RGD_ID:7207378
8751996	Serpinb7	serpin family B member 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8752015	Cachd1	cache domain containing 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
8752015	Cachd1	cache domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8752015	Cachd1	cache domain containing 1	gene	DOID:0070692	Davis-Wells syndrome		ISO	RGD:1605969	D	RGD:7240710	20260506	OMIM			
8752015	Cachd1	cache domain containing 1	gene	DOID:0070692	Davis-Wells syndrome		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DAVIS-WELLS SYNDROME	
8752015	Cachd1	cache domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8752015	Cachd1	cache domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8752015	Cachd1	cache domain containing 1	gene	DOID:11162	respiratory failure		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	
8752015	Cachd1	cache domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8752015	Cachd1	cache domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8752015	Cachd1	cache domain containing 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
8752015	Cachd1	cache domain containing 1	gene	DOID:2841	asthma		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
8752015	Cachd1	cache domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8752015	Cachd1	cache domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8752015	Cachd1	cache domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8752015	Cachd1	cache domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605969	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8752015	Cachd1	cache domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752015	Cachd1	cache domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1605969	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8752015	Cachd1	cache domain containing 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
8752015	Cachd1	cache domain containing 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8752015	Cachd1	cache domain containing 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
8752015	Cachd1	cache domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8752015	Cachd1	cache domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8752051	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8752051	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1552490	D	RGD:9068941	20220825	MouseDO			
8752051	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8752051	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8752051	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:1115	sarcoma		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8752051	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:1909	melanoma		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8752051	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8752051	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:3275	thymoma		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8752051	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8752051	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8752051	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1345810	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8752051	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752051	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8752051	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8752051	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8752051	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8752051	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8752051	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8752051	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer	
8752072	Atp6v0e1	ATPase H+ transporting V0 subunit e1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8752072	Atp6v0e1	ATPase H+ transporting V0 subunit e1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8752072	Atp6v0e1	ATPase H+ transporting V0 subunit e1	gene	DOID:0060058	lymphoma		ISO	RGD:1350958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8752072	Atp6v0e1	ATPase H+ transporting V0 subunit e1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1553358	D	RGD:9068941	20200609	RGD			PMID:23211594|REF_RGD_ID:10401913
8752072	Atp6v0e1	ATPase H+ transporting V0 subunit e1	gene	DOID:1115	sarcoma		ISO	RGD:1350958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8752072	Atp6v0e1	ATPase H+ transporting V0 subunit e1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350958	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8752072	Atp6v0e1	ATPase H+ transporting V0 subunit e1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752072	Atp6v0e1	ATPase H+ transporting V0 subunit e1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8752080	Ssx2ip	SSX family member 2 interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:736522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8752080	Ssx2ip	SSX family member 2 interacting protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8752080	Ssx2ip	SSX family member 2 interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:736522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8752080	Ssx2ip	SSX family member 2 interacting protein	gene	DOID:1909	melanoma		ISO	RGD:736522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8752080	Ssx2ip	SSX family member 2 interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:736522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8752080	Ssx2ip	SSX family member 2 interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752080	Ssx2ip	SSX family member 2 interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8752080	Ssx2ip	SSX family member 2 interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8752080	Ssx2ip	SSX family member 2 interacting protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8752080	Ssx2ip	SSX family member 2 interacting protein	gene	DOID:9256	colorectal cancer		ISO	RGD:736522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8752111	Fut7	fucosyltransferase 7	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1353646	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
8752111	Fut7	fucosyltransferase 7	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1353646	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8752111	Fut7	fucosyltransferase 7	gene	DOID:1324	lung cancer		ISO	RGD:1353646	D	RGD:9068941	20260409	RGD		mRNA:increased expression:lung	PMID:29228607|REF_RGD_ID:645122522
8752111	Fut7	fucosyltransferase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1353646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8752111	Fut7	fucosyltransferase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8752126	AGAP2	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	gene	DOID:10283	prostate cancer		ISO	RGD:1349110	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate	PMID:19176382|REF_RGD_ID:13838848
8752126	Agap2	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:1349110	D	RGD:9068941	20200609	RGD			PMID:26464646|REF_RGD_ID:11526681
8752126	Agap2	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	gene	DOID:1115	sarcoma		ISO	RGD:1349110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8752126	Agap2	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	gene	DOID:1324	lung cancer		ISO	RGD:1349110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8752126	Agap2	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	gene	DOID:3275	thymoma		ISO	RGD:1349110	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8752126	Agap2	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8752126	Agap2	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752126	Agap2	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8752126	Agap2	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	gene	DOID:9007090	Experimental Seizures		ISO	RGD:1619007	D	RGD:9068941	20200609	RGD			PMID:21925531|REF_RGD_ID:13838850
8752126	Agap2	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1619007	D	RGD:9068941	20200609	RGD			PMID:21632930|REF_RGD_ID:13838852
8752126	Agap2	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1619007	D	RGD:9068941	20200609	RGD			PMID:20068140|REF_RGD_ID:13838849
8752126	Agap2	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	gene	DOID:9970	obesity		ISO	RGD:1619007	D	RGD:9068941	20200609	RGD			PMID:20068140|REF_RGD_ID:13838849
8752163	Syt17	synaptotagmin 17	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8752163	Syt17	synaptotagmin 17	gene	DOID:0060058	lymphoma		ISO	RGD:734045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8752163	Syt17	synaptotagmin 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8752163	Syt17	synaptotagmin 17	gene	DOID:1115	sarcoma		ISO	RGD:734045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8752163	Syt17	synaptotagmin 17	gene	DOID:1324	lung cancer		ISO	RGD:734045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8752163	Syt17	synaptotagmin 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752163	Syt17	synaptotagmin 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8752163	Syt17	synaptotagmin 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8752163	Syt17	synaptotagmin 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8752185	Aox1	aldehyde oxidase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8752185	Aox1	aldehyde oxidase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8752185	Aox1	aldehyde oxidase 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:733539	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8752185	Aox1	aldehyde oxidase 1	gene	DOID:0060058	lymphoma		ISO	RGD:733539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8752185	Aox1	aldehyde oxidase 1	gene	DOID:1115	sarcoma		ISO	RGD:733539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8752185	Aox1	aldehyde oxidase 1	gene	DOID:1324	lung cancer		ISO	RGD:733539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8752185	Aox1	aldehyde oxidase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8752185	Aox1	aldehyde oxidase 1	gene	DOID:3275	thymoma		ISO	RGD:733539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8752185	Aox1	aldehyde oxidase 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:733539	D	RGD:9068941	20200609	RGD			PMID:7570184|REF_RGD_ID:734575
8752185	Aox1	aldehyde oxidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:733539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8752185	Aox1	aldehyde oxidase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8752185	Aox1	aldehyde oxidase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8752185	Aox1	aldehyde oxidase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733539	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8752185	Aox1	aldehyde oxidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752185	Aox1	aldehyde oxidase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8752185	Aox1	aldehyde oxidase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8752185	Aox1	aldehyde oxidase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733539	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208208
8752185	Aox1	aldehyde oxidase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8752185	Aox1	aldehyde oxidase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8752185	Aox1	aldehyde oxidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8752185	Aox1	aldehyde oxidase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:733539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8752239	Mtnr1b	melatonin receptor 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8752239	Mtnr1b	melatonin receptor 1B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20657642
8752239	Mtnr1b	melatonin receptor 1B	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:736711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20207350
8752239	Mtnr1b	melatonin receptor 1B	gene	DOID:2913	acute pancreatitis		ISO	RGD:620798	D	RGD:9068941	20200609	RGD			PMID:12510864|REF_RGD_ID:9588676
8752239	Mtnr1b	melatonin receptor 1B	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736711	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TYPE 2 DIABETES MELLITUS, SUSCEPTIBILITY TO	
8752239	Mtnr1b	melatonin receptor 1B	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:736711	D	RGD:7240710	20230505	OMIM			
8752243	Naa25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8752243	Naa25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8752243	Naa25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8752243	Naa25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:1115	sarcoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8752243	Naa25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:1324	lung cancer		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8752243	Naa25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:1909	melanoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8752243	Naa25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8752243	Naa25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:3275	thymoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8752243	Naa25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8752243	Naa25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8752243	Naa25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8752243	Naa25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8752243	Naa25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8752243	Naa25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8752283	Stard13	StAR related lipid transfer domain containing 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8752283	Stard13	StAR related lipid transfer domain containing 13	gene	DOID:0080600	COVID-19		ISO	RGD:1344085	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8752283	Stard13	StAR related lipid transfer domain containing 13	gene	DOID:10534	stomach cancer		ISO	RGD:1344085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8752283	Stard13	StAR related lipid transfer domain containing 13	gene	DOID:1909	melanoma		ISO	RGD:1344085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8752283	Stard13	StAR related lipid transfer domain containing 13	gene	DOID:3275	thymoma		ISO	RGD:1344085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8752283	Stard13	StAR related lipid transfer domain containing 13	gene	DOID:4362	cervical cancer		ISO	RGD:1344085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8752283	Stard13	StAR related lipid transfer domain containing 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752283	Stard13	StAR related lipid transfer domain containing 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8752283	Stard13	StAR related lipid transfer domain containing 13	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1344085	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8752283	Stard13	StAR related lipid transfer domain containing 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8752313	Mdh2	malate dehydrogenase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8752313	Mdh2	malate dehydrogenase 2	gene	DOID:0080433	developmental and epileptic encephalopathy 51		ISO	RGD:733026	D	RGD:7240710	20190315	OMIM			
8752313	Mdh2	malate dehydrogenase 2	gene	DOID:0080433	developmental and epileptic encephalopathy 51		ISO	RGD:733026	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 51 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 51 | ClinVar Annotator: match by term: MDH2-related condition	PMID:17576681|PMID:25741868|PMID:27989324|PMID:28492532|PMID:30008476|PMID:34712577|PMID:34718610|PMID:36420423|PMID:9536098
8752313	Mdh2	malate dehydrogenase 2	gene	DOID:10534	stomach cancer		ISO	RGD:733026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8752313	Mdh2	malate dehydrogenase 2	gene	DOID:2316	brain ischemia		ISO	RGD:619719	D	RGD:9068941	20200609	RGD			PMID:6282622|REF_RGD_ID:1582465
8752313	Mdh2	malate dehydrogenase 2	gene	DOID:305	carcinoma		ISO	RGD:733026	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8752313	Mdh2	malate dehydrogenase 2	gene	DOID:4001	ovarian carcinoma		ISO	RGD:733026	D	RGD:9068941	20221215	CTD		CTD Direct Evidence: marker/mechanism	PMID:28811376
8752313	Mdh2	malate dehydrogenase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:733026	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8752313	Mdh2	malate dehydrogenase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752313	Mdh2	malate dehydrogenase 2	gene	DOID:5844	myocardial infarction		ISO	RGD:619719	D	RGD:9068941	20200609	RGD			PMID:9753871|REF_RGD_ID:1582468
8752313	Mdh2	malate dehydrogenase 2	gene	DOID:6000	congestive heart failure		ISO	RGD:619719	D	RGD:9068941	20200609	RGD			PMID:16786185|REF_RGD_ID:1582470
8752313	Mdh2	malate dehydrogenase 2	gene	DOID:630	genetic disease		ISO	RGD:733026	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27989324|PMID:28492532
8752313	Mdh2	malate dehydrogenase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8752313	Mdh2	malate dehydrogenase 2	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:733026	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8752313	Mdh2	malate dehydrogenase 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:733026	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive | ClinVar Annotator: match by term: failure to thrive	PMID:25741868|PMID:27989324|PMID:28492532|PMID:34712577|PMID:36420423
8752313	Mdh2	malate dehydrogenase 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:733026	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8752313	Mdh2	malate dehydrogenase 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733026	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:27989324|PMID:28492532|PMID:34712577|PMID:36420423
8752313	Mdh2	malate dehydrogenase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8752313	Mdh2	malate dehydrogenase 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733026	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27989324|PMID:28492532|PMID:34712577|PMID:36420423
8752313	Mdh2	malate dehydrogenase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8752313	Mdh2	malate dehydrogenase 2	gene	DOID:936	brain disease		ISO	RGD:733026	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Infantile encephalopathy	PMID:25741868|PMID:27989324|PMID:28492532|PMID:34712577|PMID:36420423
8752326	Lratd1	LRAT domain containing 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1602648	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8752326	Lratd1	LRAT domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8752335	Krt6a	keratin 6A	gene	DOID:0050449	pachyonychia congenita		ISO	RGD:1346482	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PC-K6a	PMID:25741868|PMID:28492532
8752335	Krt6a	keratin 6A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8752335	Krt6a	keratin 6A	gene	DOID:1324	lung cancer		ISO	RGD:1346482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8752335	Krt6a	keratin 6A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8752335	Krt6a	keratin 6A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752335	Krt6a	keratin 6A	gene	DOID:630	genetic disease		ISO	RGD:1346482	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8752335	Krt6a	keratin 6A	gene	DOID:9000914	Pachyonychia Congenita 3		ISO	RGD:1346482	D	RGD:7240710	20190327	OMIM			
8752335	Krt6a	keratin 6A	gene	DOID:9000914	Pachyonychia Congenita 3		ISO	RGD:1346482	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KRT6A-related condition | ClinVar Annotator: match by term: PACHYONYCHIA CONGENITA 3 | ClinVar Annotator: match by term: Pachyonychia congenita 3	PMID:17576681|PMID:21326300|PMID:24611874|PMID:25741868|PMID:28492532|PMID:31823354|PMID:9536098
8752356	Trim63	tripartite motif containing 63	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1345707	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Idiopathic cardiomyopathy	PMID:25741868
8752356	Trim63	tripartite motif containing 63	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1345707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:25741868
8752356	Trim63	tripartite motif containing 63	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1345707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:22821932|PMID:25741868|PMID:32368696|PMID:32451364|PMID:34137518
8752356	Trim63	tripartite motif containing 63	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:1345707	D	RGD:9068941	20230520	RGD		mRNA, protein:increased expression:vastus lateralis	PMID:23972212|REF_RGD_ID:329812002
8752356	Trim63	tripartite motif containing 63	gene	DOID:630	genetic disease		ISO	RGD:1345707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8752356	Trim63	tripartite motif containing 63	gene	DOID:767	muscular atrophy		ISO	RGD:1345707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21139329
8752356	Trim63	tripartite motif containing 63	gene	DOID:767	muscular atrophy		ISO	RGD:619964	D	RGD:9068941	20200609	RGD		mRNA:increased expression:gastrocnemius	PMID:11679633|REF_RGD_ID:633893
8752356	Trim63	tripartite motif containing 63	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1345707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19168726
8752356	Trim63	tripartite motif containing 63	gene	DOID:9004462	Atrophy		ISO	RGD:1345707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19168726
8752356	Trim63	tripartite motif containing 63	gene	DOID:9009370	hypertrophic cardiomyopathy 31		ISO	RGD:1345707	D	RGD:7240710	20250813	OMIM			
8752356	Trim63	tripartite motif containing 63	gene	DOID:9009370	hypertrophic cardiomyopathy 31		ISO	RGD:1345707	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 31 | ClinVar Annotator: match by term: TRIM63-related disorder	PMID:22821932|PMID:24436434|PMID:24436435|PMID:25741868|PMID:25801283|PMID:28492532|PMID:30372688|PMID:32451364|PMID:32659924|PMID:34526680|PMID:35273634|PMID:37431535|PMID:38757491|PMID:39260623|PMID:40332812
8752356	Trim63	tripartite motif containing 63	gene	DOID:9884	muscular dystrophy		ISO	RGD:619964	D	RGD:9068941	20200609	RGD		dexamethaso-induced and hindlimb denervation	PMID:24710205|REF_RGD_ID:14695084
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0050439	Usher syndrome		ISO	RGD:1313332	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Usher syndrome	PMID:25741868
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1313332	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kidney, Polycystic | ClinVar Annotator: match by term: Polycystic kidney disease	PMID:25741868|PMID:28492532|PMID:31922066
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0080379	nephrotic syndrome type 2		ISO	RGD:1313332	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome	PMID:25741868|PMID:28492532
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0110032	Alport syndrome 3A		ISO	RGD:1313332	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT	PMID:11375996|PMID:11961012|PMID:12028435|PMID:12631110|PMID:12748344|PMID:15618242|PMID:15954103|PMID:16199547|PMID:16467446|PMID:17216251|PMID:17576681|PMID:17942953|PMID:19129241|PMID:20301386|PMID:21196518|PMID:21897443|PMID:24033266|PMID:24046192|PMID:24052634|PMID:24633401|PMID:24854265|PMID:25307543|PMID:25525159|PMID:25596306|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27859054|PMID:28492532|PMID:28632965|PMID:28658201|PMID:28704582|PMID:28844315|PMID:29801666|PMID:29854973|PMID:29924831|PMID:30586318|PMID:30745910|PMID:31308072|PMID:31312213|PMID:31328266|PMID:31576025|PMID:31589614|PMID:31934206|PMID:32939031|PMID:33233744|PMID:33369211|PMID:33532864|PMID:33712733|PMID:33772369|PMID:33838161|PMID:33854215|PMID:34400539|PMID:34746741|PMID:35368817|PMID:35759000|PMID:36100708|PMID:36130833|PMID:36239278|PMID:37078890|PMID:37097554|PMID:38317457|PMID:38978054|PMID:9536098|PMID:9792860
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0110032	Alport syndrome 3A		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT	PMID:11375996|PMID:12028435|PMID:16467446|PMID:17216251|PMID:17942953|PMID:20301386|PMID:21196518|PMID:21897443|PMID:24033266|PMID:24046192|PMID:24854265|PMID:25307543|PMID:25596306|PMID:25741868|PMID:26809805|PMID:27859054|PMID:28492532|PMID:28632965|PMID:28658201|PMID:28704582|PMID:31312213|PMID:33369211|PMID:36100708|PMID:36130833|PMID:37078890|PMID:38978054
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0110033	Alport syndrome 2		ISO	RGD:1313332	D	RGD:7240710	20180130	OMIM			
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0110033	Alport syndrome 2		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome | ClinVar Annotator: match by term: COL4A4-related disorder	PMID:11375996|PMID:11961012|PMID:12028435|PMID:12325029|PMID:12631110|PMID:14582039|PMID:15086897|PMID:16199547|PMID:16338941|PMID:16467446|PMID:17216251|PMID:17396119|PMID:17576681|PMID:17942953|PMID:19129241|PMID:19675380|PMID:20029656|PMID:20301386|PMID:21196518|PMID:21897443|PMID:22887978|PMID:23349334|PMID:23551117|PMID:24033266|PMID:24033287|PMID:24046192|PMID:24052634|PMID:24398087|PMID:24522496|PMID:24633401|PMID:24854265|PMID:25307543|PMID:25381091|PMID:25514610|PMID:25575550|PMID:25596306|PMID:25741868|PMID:25755845|PMID:26346198|PMID:26467025|PMID:26809805|PMID:26833262|PMID:26934356|PMID:27281700|PMID:27859054|PMID:28117080|PMID:28492532|PMID:28632965|PMID:28658201|PMID:28704582|PMID:28968992|PMID:28976722|PMID:29204651|PMID:29496980|PMID:29551517|PMID:29801666|PMID:29854973|PMID:29873249|PMID:29924831|PMID:30076350|PMID:30450445|PMID:30586318|PMID:30647093|PMID:30883042|PMID:31019026|PMID:31246743|PMID:31312213|PMID:31328266|PMID:31408864|PMID:31515789|PMID:31589614|PMID:31677115|PMID:32647767|PMID:33048202|PMID:33233744|PMID:33369211|PMID:33532864|PMID:33772369|PMID:33838161|PMID:33854215|PMID:34120753|PMID:34448697|PMID:34584596|PMID:34746741|PMID:34993602|PMID:35090027|PMID:35114279|PMID:35419377|PMID:35759000|PMID:36090501|PMID:36100708|PMID:36117978|PMID:36130833|PMID:36161695|PMID:36349757|PMID:36349777|PMID:36370330|PMID:36938085|PMID:37078890|PMID:37097554|PMID:37147621|PMID:37895203|PMID:38317457|PMID:38972501|PMID:38978054|PMID:39443691|PMID:39558648|PMID:39584075|PMID:7987396|PMID:8787673|PMID:9536098|PMID:9792860
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0110034	X-linked Alport syndrome		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: X-linked Alport syndrome	PMID:12028435|PMID:17396119|PMID:19129241|PMID:19675380|PMID:20029656|PMID:24033266|PMID:25514610|PMID:25741868|PMID:25755845|PMID:26467025|PMID:28492532
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:17396119|PMID:20029656|PMID:24033266|PMID:25514610|PMID:25741868|PMID:26467025|PMID:28492532
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0111132	focal segmental glomerulosclerosis 7		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7	PMID:21196518|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26809805|PMID:28492532
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0111365	benign familial hematuria		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria | ClinVar Annotator: match by term: THIN MEMBRANE NEPHROPATHY	PMID:11375996|PMID:12028435|PMID:12325029|PMID:12631110|PMID:14582039|PMID:15086897|PMID:16199547|PMID:16467446|PMID:17216251|PMID:17396119|PMID:17576681|PMID:17942953|PMID:19129241|PMID:20301386|PMID:21196518|PMID:21897443|PMID:22887978|PMID:23349334|PMID:23551117|PMID:24033266|PMID:24033287|PMID:24046192|PMID:24052634|PMID:24398087|PMID:24854265|PMID:25307543|PMID:25381091|PMID:25514610|PMID:25596306|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27859054|PMID:28476686|PMID:28492532|PMID:28632965|PMID:28704582|PMID:28968992|PMID:28976722|PMID:29496980|PMID:29801666|PMID:30076350|PMID:30295827|PMID:30586318|PMID:30647093|PMID:30968591|PMID:31019026|PMID:31246743|PMID:31312213|PMID:31328266|PMID:31408864|PMID:31589614|PMID:32332277|PMID:32647767|PMID:32703181|PMID:33048202|PMID:33233744|PMID:33369211|PMID:33532864|PMID:33772369|PMID:33838161|PMID:33854215|PMID:34448697|PMID:34584596|PMID:34993602|PMID:35090027|PMID:35114279|PMID:35759000|PMID:36100708|PMID:36117978|PMID:36130833|PMID:36161695|PMID:36349757|PMID:36349777|PMID:36370330|PMID:36938085|PMID:37078890|PMID:37097554|PMID:37147621|PMID:37895203|PMID:38317457|PMID:38972501|PMID:38978054|PMID:39443691|PMID:8787673|PMID:9536098|PMID:9792860
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0112314	autosomal dominant brain small vessel disease 2A		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brain small vessel disease 2A, autosomal dominant	PMID:25741868|PMID:28492532
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:19675380|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:1074	kidney failure		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:25741868
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:10763	hypertension		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertension	PMID:24033266|PMID:25741868|PMID:28492532
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:10983	Alport syndrome		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Alport Syndrome | ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria	PMID:11685592|PMID:11961012|PMID:12028435|PMID:12325029|PMID:12631110|PMID:12748344|PMID:14582039|PMID:15086897|PMID:15365990|PMID:15618242|PMID:15954103|PMID:16199547|PMID:16338941|PMID:16467446|PMID:1721625|PMID:17216251|PMID:17396119|PMID:17576681|PMID:17942953|PMID:19129241|PMID:19675380|PMID:20029656|PMID:20301386|PMID:21196518|PMID:21897443|PMID:22887978|PMID:23349334|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24046192|PMID:24052634|PMID:24509478|PMID:24522496|PMID:24633401|PMID:24854265|PMID:25229338|PMID:25307543|PMID:25381091|PMID:25514610|PMID:25525159|PMID:25596306|PMID:25741868|PMID:25755845|PMID:26346198|PMID:26467025|PMID:26610912|PMID:26628290|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27469977|PMID:27859054|PMID:28098982|PMID:28492532|PMID:28509291|PMID:28542346|PMID:28632965|PMID:28658201|PMID:28704582|PMID:28844315|PMID:28968992|PMID:28976722|PMID:29098738|PMID:29204651|PMID:29496980|PMID:29551517|PMID:29801666|PMID:29854973|PMID:29924831|PMID:30076350|PMID:30406062|PMID:30450445|PMID:30506145|PMID:30586318|PMID:30647093|PMID:30745910|PMID:30968591|PMID:31019026|PMID:31246743|PMID:31306228|PMID:31308072|PMID:31319225|PMID:31328266|PMID:31387071|PMID:31408864|PMID:31589614|PMID:31738409|PMID:31831576|PMID:31934206|PMID:32203225|PMID:32604935|PMID:32647767|PMID:32939031|PMID:33048202|PMID:33095447|PMID:33159707|PMID:33233744|PMID:33369211|PMID:33532864|PMID:33654185|PMID:33712733|PMID:33772369|PMID:33774617|PMID:33838161|PMID:3385421|PMID:33854215|PMID:34400539|PMID:34448697|PMID:34483311|PMID:34508137|PMID:34584596|PMID:34625929|PMID:34746741|PMID:34762194|PMID:34993602|PMID:35064937|PMID:35090027|PMID:35114279|PMID:35121647|PMID:35325889|PMID:35368817|PMID:3536955|PMID:35369551|PMID:35372954|PMID:35386907|PMID:35419377|PMID:35478268|PMID:35582193|PMID:35683636|PMID:35759000|PMID:35760791|PMID:36013122|PMID:36090501|PMID:36100708|PMID:36117978|PMID:36130833|PMID:36161695|PMID:36239278|PMID:36253919|PMID:36292665|PMID:36349757|PMID:36349777|PMID:36370330|PMID:36514391|PMID:36646731|PMID:36685964|PMID:36699462|PMID:36758113|PMID:36925663|PMID:36938085|PMID:37078890|PMID:37097554|PMID:37147621|PMID:37217505|PMID:3724865|PMID:37248651|PMID:37323669|PMID:37353797|PMID:37464296|PMID:37895203|PMID:37915894|PMID:38178635|PMID:38179179|PMID:38214412|PMID:38262496|PMID:38317457|PMID:38338714|PMID:38433557|PMID:38837003|PMID:38972501|PMID:38978054|PMID:39135934|PMID:39190490|PMID:39430195|PMID:39443691|PMID:39540369|PMID:39558648|PMID:39584075|PMID:39597783|PMID:39810285|PMID:40004525|PMID:40044766|PMID:40115459|PMID:40806767|PMID:5369551|PMID:7987396|PMID:8787673|PMID:9536098|PMID:9792860
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:1115	sarcoma		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:11830	myopia		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:12028435|PMID:16467446|PMID:17396119|PMID:17942953|PMID:24033287|PMID:24046192|PMID:24854265|PMID:25741868|PMID:26934356|PMID:28492532|PMID:28632965|PMID:28704582|PMID:29496980|PMID:29801666|PMID:33048202|PMID:33532864|PMID:33838161|PMID:34584596|PMID:35090027|PMID:36349757|PMID:38317457|PMID:39443691
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:25741868
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FSGS | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:12028435|PMID:16467446|PMID:17396119|PMID:17942953|PMID:20029656|PMID:20301386|PMID:24033266|PMID:24046192|PMID:25514610|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28704582|PMID:30586318|PMID:33854215|PMID:34993602|PMID:35759000|PMID:36161695
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:1588	thrombocytopenia		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:24033266|PMID:25741868|PMID:28492532
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:2921	glomerulonephritis		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glomerulonephritis	PMID:25741868|PMID:28492532
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:3021	acute kidney failure		ISO	RGD:1313332	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Acute kidney injury	PMID:25741868
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:3275	thymoma		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:19675380|PMID:25741868|PMID:28492532
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:19675380|PMID:25741868|PMID:28492532
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1313332	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:557	kidney disease		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:12028435|PMID:16467446|PMID:1721625|PMID:17216251|PMID:17942953|PMID:22887978|PMID:24033266|PMID:24046192|PMID:25381091|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28704582|PMID:28976722|PMID:29924831|PMID:31019026|PMID:31246743|PMID:31589614|PMID:33772369|PMID:35114279|PMID:36130833|PMID:36349777|PMID:36370330|PMID:37097554|PMID:37147621|PMID:9792860
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:576	proteinuria		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:11375996|PMID:12028435|PMID:12325029|PMID:12631110|PMID:16467446|PMID:17396119|PMID:17576681|PMID:17942953|PMID:21196518|PMID:23551117|PMID:24033287|PMID:24046192|PMID:24052634|PMID:24398087|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26809805|PMID:26934356|PMID:28492532|PMID:28632965|PMID:28704582|PMID:29496980|PMID:29801666|PMID:30647093|PMID:31408864|PMID:32647767|PMID:33048202|PMID:33532864|PMID:33838161|PMID:34584596|PMID:35090027|PMID:35759000|PMID:36100708|PMID:36349757|PMID:38317457|PMID:39443691|PMID:9536098
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:630	genetic disease		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11970952|PMID:12028435|PMID:12325029|PMID:12631110|PMID:15299013|PMID:16467446|PMID:17942953|PMID:2011424|PMID:20301386|PMID:21196518|PMID:22887978|PMID:24033266|PMID:24046192|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25381091|PMID:25741868|PMID:26346198|PMID:28476686|PMID:28492532|PMID:28518168|PMID:28658201|PMID:28704582|PMID:28976722|PMID:29801666|PMID:30443360|PMID:31019026|PMID:31246743|PMID:31589614|PMID:32461654|PMID:33772369|PMID:34400539|PMID:34508137|PMID:35114279|PMID:35177655|PMID:36130833|PMID:36349777|PMID:36370330|PMID:37097554|PMID:37147621|PMID:9724608|PMID:9792860
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:783	end stage renal disease		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: End-stage renal disease | ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:12028435|PMID:16467446|PMID:17942953|PMID:20301386|PMID:24033266|PMID:24046192|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28704582|PMID:30586318|PMID:33854215|PMID:34993602|PMID:35759000|PMID:36161695
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:784	chronic kidney disease		ISO	RGD:1313332	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:12028435|PMID:12325029|PMID:12631110|PMID:16467446|PMID:17942953|PMID:21196518|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26346198|PMID:28492532|PMID:28704582|PMID:32723786
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9000104	Glomerular Diseases		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glomerulopathy	PMID:11375996|PMID:25741868|PMID:26809805|PMID:28492532|PMID:36100708
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9000343	Vision Disorders		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:32939031
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9000363	Hematuria		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hematuria	PMID:12028435|PMID:12325029|PMID:12631110|PMID:16199547|PMID:16467446|PMID:17396119|PMID:17576681|PMID:17942953|PMID:21196518|PMID:23551117|PMID:24033287|PMID:24046192|PMID:24052634|PMID:24398087|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26934356|PMID:28492532|PMID:28632965|PMID:28704582|PMID:29496980|PMID:29801666|PMID:32647767|PMID:33048202|PMID:33532864|PMID:33838161|PMID:34584596|PMID:35090027|PMID:36349757|PMID:36938085|PMID:38317457|PMID:39443691|PMID:9536098
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9001961	Hyperkalemia		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkalemia	PMID:24033266|PMID:25741868|PMID:28492532
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9004538	Hearing Loss		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:12028435|PMID:16467446|PMID:17396119|PMID:17942953|PMID:24033287|PMID:24046192|PMID:24854265|PMID:25741868|PMID:26934356|PMID:28492532|PMID:28632965|PMID:28704582|PMID:29496980|PMID:29801666|PMID:30311386|PMID:33048202|PMID:33532864|PMID:33838161|PMID:34584596|PMID:35090027|PMID:36349757|PMID:38317457|PMID:39443691
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9006352	Benign Familial Hematuria 1		ISO	RGD:1313332	D	RGD:7240710	20230505	OMIM			
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9006352	Benign Familial Hematuria 1		ISO	RGD:1313332	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: COL4A4-related condition	PMID:12325029|PMID:12631110|PMID:16199547|PMID:17216251|PMID:17576681|PMID:19129241|PMID:20301386|PMID:21196518|PMID:21897443|PMID:24052634|PMID:24522496|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27281700|PMID:27859054|PMID:28492532|PMID:28632965|PMID:31049720|PMID:31922066|PMID:33532864|PMID:35419377|PMID:9536098|PMID:9792860
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9006352	Benign Familial Hematuria 1		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COL4A4-related condition | ClinVar Annotator: match by term: HEMATURIA, BENIGN FAMILIAL, 1 | ClinVar Annotator: match by term: Hematuria, benign familial, 1	PMID:11375996|PMID:11961012|PMID:12028435|PMID:12325029|PMID:12631110|PMID:14582039|PMID:14871398|PMID:15086897|PMID:16199547|PMID:16338941|PMID:16467446|PMID:17216251|PMID:17396119|PMID:17576681|PMID:17942953|PMID:19129241|PMID:19675380|PMID:20301386|PMID:21196518|PMID:21897443|PMID:22887978|PMID:23349334|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24046192|PMID:24052634|PMID:24130771|PMID:24854265|PMID:25307543|PMID:25381091|PMID:25514610|PMID:25575550|PMID:25596306|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27859054|PMID:27884173|PMID:28492532|PMID:28632965|PMID:28704582|PMID:28780565|PMID:28968992|PMID:28976722|PMID:29496980|PMID:29551517|PMID:29801666|PMID:29854973|PMID:29873249|PMID:29907799|PMID:29924831|PMID:30002862|PMID:30076350|PMID:30293248|PMID:30450445|PMID:30467950|PMID:30586318|PMID:30647093|PMID:30883042|PMID:31019026|PMID:31049720|PMID:31144478|PMID:31246743|PMID:31308072|PMID:31312213|PMID:31328266|PMID:31408864|PMID:31589614|PMID:31922066|PMID:32647767|PMID:33003980|PMID:33040356|PMID:33048202|PMID:33233744|PMID:33369211|PMID:33532864|PMID:33772369|PMID:33838161|PMID:33854215|PMID:34120753|PMID:34448697|PMID:34584596|PMID:34746741|PMID:34993602|PMID:35090027|PMID:35114279|PMID:35419377|PMID:35675912|PMID:35759000|PMID:36090501|PMID:36100708|PMID:36117978|PMID:36130833|PMID:36161695|PMID:36292665|PMID:36349757|PMID:36349777|PMID:36370330|PMID:37078890|PMID:37097554|PMID:37147621|PMID:37248651|PMID:37849993|PMID:37895203|PMID:38317457|PMID:38357258|PMID:38790222|PMID:38972501|PMID:38978054|PMID:39443691|PMID:8787673|PMID:9536098|PMID:9792860
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:24033266|PMID:25741868|PMID:28492532
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9007661	Dwarfism		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9009133	acanthocytosis		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthocytosis	
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8752368	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9849	Meniere's disease		ISO	RGD:1313332	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Ménière's disease	PMID:12028435|PMID:16467446|PMID:17576681|PMID:17942953|PMID:24046192|PMID:24052634|PMID:25741868|PMID:28492532|PMID:28658201|PMID:28704582|PMID:9536098
8752424	Pxn	paxillin	gene	DOID:10534	stomach cancer		ISO	RGD:1313984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8752424	Pxn	paxillin	gene	DOID:1115	sarcoma		ISO	RGD:1313984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8752424	Pxn	paxillin	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1313984	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21159652
8752424	Pxn	paxillin	gene	DOID:4362	cervical cancer		ISO	RGD:1313984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8752424	Pxn	paxillin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752424	Pxn	paxillin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8752424	Pxn	paxillin	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1313984	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18492274
8752424	Pxn	paxillin	gene	DOID:9004118	Experimental Melanoma		ISO	RGD:1313984	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18492274
8752424	Pxn	paxillin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8752424	Pxn	paxillin	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1313984	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28100775
8752424	Pxn	paxillin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8752449	Neurl1	neuralized E3 ubiquitin protein ligase 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1315966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
8752449	Neurl1	neuralized E3 ubiquitin protein ligase 1	gene	DOID:9007090	Experimental Seizures		ISO	RGD:1307021	D	RGD:9068941	20241214	RGD		mRNA:decreased expression:brain	PMID:12213446|REF_RGD_ID:2302390
8752449	Neurl1	neuralized E3 ubiquitin protein ligase 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1315966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17892325
8752460	Frmd5	FERM domain containing 5	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
8752460	Frmd5	FERM domain containing 5	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1557005	D	RGD:9068941	20240328	MouseDO			
8752460	Frmd5	FERM domain containing 5	gene	DOID:0081275	neurodevelopmental disorder with eye movement abnormalities and ataxia		ISO	RGD:1605911	D	RGD:7240710	20221102	OMIM			
8752460	Frmd5	FERM domain containing 5	gene	DOID:0081275	neurodevelopmental disorder with eye movement abnormalities and ataxia		ISO	RGD:1605911	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: FRMD5-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH EYE MOVEMENT ABNORMALITIES AND ATAXIA | ClinVar Annotator: match by term: Neurodevelopmental disorder with eye movement abnormalities and ataxia	PMID:25741868|PMID:36206744
8752460	Frmd5	FERM domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8752460	Frmd5	FERM domain containing 5	gene	DOID:1059	intellectual disability		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868|PMID:36206744
8752460	Frmd5	FERM domain containing 5	gene	DOID:1059	intellectual disability		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868
8752460	Frmd5	FERM domain containing 5	gene	DOID:10907	microcephaly		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8752460	Frmd5	FERM domain containing 5	gene	DOID:1279	ocular motility disease		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Opsoclonus	PMID:25741868
8752460	Frmd5	FERM domain containing 5	gene	DOID:1909	melanoma		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8752460	Frmd5	FERM domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8752460	Frmd5	FERM domain containing 5	gene	DOID:4428	dyslexia		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dyslexia	PMID:25741868
8752460	Frmd5	FERM domain containing 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1605911	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8752460	Frmd5	FERM domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752460	Frmd5	FERM domain containing 5	gene	DOID:630	genetic disease		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8752460	Frmd5	FERM domain containing 5	gene	DOID:6364	migraine		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868
8752460	Frmd5	FERM domain containing 5	gene	DOID:9000053	Headache		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:25741868
8752460	Frmd5	FERM domain containing 5	gene	DOID:9000495	Tremor		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Limb tremor	PMID:25741868
8752460	Frmd5	FERM domain containing 5	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868
8752460	Frmd5	FERM domain containing 5	gene	DOID:9004369	Hypesthesia		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypoesthesia	PMID:25741868
8752460	Frmd5	FERM domain containing 5	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868
8752460	Frmd5	FERM domain containing 5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8752460	Frmd5	FERM domain containing 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8752460	Frmd5	FERM domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8752460	Frmd5	FERM domain containing 5	gene	DOID:9007722	Myoclonus		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868
8752460	Frmd5	FERM domain containing 5	gene	DOID:9007892	Tics		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tics	PMID:25741868
8752460	Frmd5	FERM domain containing 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8752460	Frmd5	FERM domain containing 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8752460	Frmd5	FERM domain containing 5	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nystagmus | ClinVar Annotator: match by term: Rotary nystagmus	PMID:25741868
8752499	Srd5a1	steroid 5 alpha-reductase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8752499	Srd5a1	steroid 5 alpha-reductase 1	gene	DOID:0050741	alcohol dependence		ISO	RGD:736446	D	RGD:9068941	20250206	RGD		DNA:SNP:exon:rs248793(human)	PMID:21323680|REF_RGD_ID:597621634
8752499	Srd5a1	steroid 5 alpha-reductase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8752499	Srd5a1	steroid 5 alpha-reductase 1	gene	DOID:0080600	COVID-19		ISO	RGD:736446	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8752499	Srd5a1	steroid 5 alpha-reductase 1	gene	DOID:10283	prostate cancer		ISO	RGD:3757	D	RGD:9068941	20200609	RGD			PMID:16818707|REF_RGD_ID:2302523
8752499	Srd5a1	steroid 5 alpha-reductase 1	gene	DOID:10283	prostate cancer		ISO	RGD:736446	D	RGD:9068941	20200609	RGD			PMID:16818707|REF_RGD_ID:2302523
8752499	Srd5a1	steroid 5 alpha-reductase 1	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:736446	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:17720776|REF_RGD_ID:2302521
8752499	Srd5a1	steroid 5 alpha-reductase 1	gene	DOID:10534	stomach cancer		ISO	RGD:736446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8752499	Srd5a1	steroid 5 alpha-reductase 1	gene	DOID:11132	prostatic hypertrophy	severity	ISO	RGD:736446	D	RGD:9068941	20200609	RGD		DNA:SNPs:cds	PMID:15136785|REF_RGD_ID:2302559
8752499	Srd5a1	steroid 5 alpha-reductase 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:736446	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543|PMID:22381227
8752499	Srd5a1	steroid 5 alpha-reductase 1	gene	DOID:12700	hyperprolactinemia		ISO	RGD:3757	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate (rat)	PMID:18379994|REF_RGD_ID:4891877
8752499	Srd5a1	steroid 5 alpha-reductase 1	gene	DOID:1459	hypothyroidism		ISO	RGD:3757	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:epididymus (rat)	PMID:20303481|REF_RGD_ID:4891505
8752499	Srd5a1	steroid 5 alpha-reductase 1	gene	DOID:289	endometriosis		ISO	RGD:736446	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21232532|PMID:23183084
8752499	Srd5a1	steroid 5 alpha-reductase 1	gene	DOID:3459	breast carcinoma		ISO	RGD:736446	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:15212687|REF_RGD_ID:2302558
8752499	Srd5a1	steroid 5 alpha-reductase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752499	Srd5a1	steroid 5 alpha-reductase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736446	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8752499	Srd5a1	steroid 5 alpha-reductase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:11341	D	RGD:9068941	20200609	RGD			PMID:17707058|REF_RGD_ID:2302522
8752499	Srd5a1	steroid 5 alpha-reductase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736446	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18500220|PMID:20564326
8752499	Srd5a1	steroid 5 alpha-reductase 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:736446	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart left ventricle (human)	PMID:12374776|REF_RGD_ID:4891966
8752499	Srd5a1	steroid 5 alpha-reductase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:3757	D	RGD:9068941	20200609	RGD		mRNA:increased expression:adrenal gland (rat)	PMID:17884440|REF_RGD_ID:4891894
8752499	Srd5a1	steroid 5 alpha-reductase 1	gene	DOID:9970	obesity		ISO	RGD:3757	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:20098742|REF_RGD_ID:4891511
8752508	Eppk1	epiplakin 1	gene	DOID:2661	myoepithelioma		ISO	RGD:1343625	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8752508	Eppk1	epiplakin 1	gene	DOID:9001341	Chloracne		ISO	RGD:1343625	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
8752519	Blnk	B cell linker	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8752519	Blnk	B cell linker	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8752519	Blnk	B cell linker	gene	DOID:0060027	agammaglobulinemia 4		ISO	RGD:1347273	D	RGD:7240710	20180130	OMIM			
8752519	Blnk	B cell linker	gene	DOID:0060027	agammaglobulinemia 4		ISO	RGD:1347273	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive | ClinVar Annotator: match by term: B cell linker protein deficiency | ClinVar Annotator: match by term: agammaglobulinemia 4, autosomal recessive	PMID:10583958|PMID:16199547|PMID:17576681|PMID:24033266|PMID:24582315|PMID:25741868|PMID:28492532|PMID:30619340|PMID:9536098
8752519	Blnk	B cell linker	gene	DOID:1115	sarcoma		ISO	RGD:1347273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8752519	Blnk	B cell linker	gene	DOID:2583	agammaglobulinemia		ISO	RGD:1347273	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8752519	Blnk	B cell linker	gene	DOID:2583	agammaglobulinemia	susceptibility	ISO	RGD:1347273	D	RGD:9068941	20200609	RGD		DNA:splice-site mutation	PMID:10583958|REF_RGD_ID:1600518
8752519	Blnk	B cell linker	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8752519	Blnk	B cell linker	gene	DOID:4362	cervical cancer		ISO	RGD:1347273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8752519	Blnk	B cell linker	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752519	Blnk	B cell linker	gene	DOID:630	genetic disease		ISO	RGD:1347273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8752547	Robo3	roundabout guidance receptor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8752547	Robo3	roundabout guidance receptor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8752547	Robo3	roundabout guidance receptor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8752547	Robo3	roundabout guidance receptor 3	gene	DOID:12445	conjugate gaze palsy		ISO	RGD:1322248	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Conjugate gaze palsy	PMID:15105459|PMID:16525029|PMID:21850172|PMID:25741868|PMID:32373565|PMID:34374989
8752547	Robo3	roundabout guidance receptor 3	gene	DOID:12849	autistic disorder		ISO	RGD:1322248	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18270976
8752547	Robo3	roundabout guidance receptor 3	gene	DOID:1324	lung cancer		ISO	RGD:1322248	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8752547	Robo3	roundabout guidance receptor 3	gene	DOID:13515	tuberous sclerosis		ISO	RGD:1322248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tuberous sclerosis syndrome	
8752547	Robo3	roundabout guidance receptor 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8752547	Robo3	roundabout guidance receptor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752547	Robo3	roundabout guidance receptor 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8752547	Robo3	roundabout guidance receptor 3	gene	DOID:630	genetic disease		ISO	RGD:1322248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8752547	Robo3	roundabout guidance receptor 3	gene	DOID:9000998	Brain Injuries		ISO	RGD:1311018	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:16262652|REF_RGD_ID:2316136
8752547	Robo3	roundabout guidance receptor 3	gene	DOID:9004787	Familial Horizontal Gaze Palsy with Progressive Scoliosis		ISO	RGD:1322248	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8752547	Robo3	roundabout guidance receptor 3	gene	DOID:9004843	Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1		ISO	RGD:1322248	D	RGD:7240710	20190327	OMIM			
8752547	Robo3	roundabout guidance receptor 3	gene	DOID:9004843	Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1		ISO	RGD:1322248	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 | ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 | ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 1 | ClinVar Annotator: match by term: ROBO3-related condition	PMID:15105459|PMID:16525029|PMID:16772357|PMID:18829051|PMID:19041479|PMID:19633821|PMID:21850172|PMID:24969490|PMID:25326635|PMID:25741868|PMID:27318526|PMID:27884173|PMID:28024310|PMID:28492532|PMID:29215389|PMID:32373565|PMID:32580277|PMID:34374989
8752547	Robo3	roundabout guidance receptor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8752547	Robo3	roundabout guidance receptor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8752579	Mplkip	M-phase specific PLK1 interacting protein	gene	DOID:0050528	nonphotosensitive trichothiodystrophy 4		ISO	RGD:1344320	D	RGD:7240710	20190904	OMIM			
8752579	Mplkip	M-phase specific PLK1 interacting protein	gene	DOID:0050528	nonphotosensitive trichothiodystrophy 4		ISO	RGD:1344320	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MPLKIP-related condition | ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE | ClinVar Annotator: match by term: Trichothiodystrophy 4, nonphotosensitive	PMID:15645389|PMID:16977596|PMID:25290684|PMID:25606444|PMID:25741868|PMID:26880286|PMID:28492532
8752579	Mplkip	M-phase specific PLK1 interacting protein	gene	DOID:0111866	trichothiodystrophy		ISO	RGD:1344320	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8752579	Mplkip	M-phase specific PLK1 interacting protein	gene	DOID:0111873	photosensitive trichothiodystrophy 1		ISO	RGD:1344320	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive	
8752579	Mplkip	M-phase specific PLK1 interacting protein	gene	DOID:1324	lung cancer		ISO	RGD:1344320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8752579	Mplkip	M-phase specific PLK1 interacting protein	gene	DOID:630	genetic disease		ISO	RGD:1344320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8752579	Mplkip	M-phase specific PLK1 interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8752593	Med30	mediator complex subunit 30	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8752593	Med30	mediator complex subunit 30	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8752593	Med30	mediator complex subunit 30	gene	DOID:3275	thymoma		ISO	RGD:1319681	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8752593	Med30	mediator complex subunit 30	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8752614	Clmp	CXADR like cell adhesion molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8752614	Clmp	CXADR like cell adhesion molecule	gene	DOID:0080072	intestinal pseudo-obstruction		ISO	RGD:1602686	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	
8752614	Clmp	CXADR like cell adhesion molecule	gene	DOID:10605	short bowel syndrome		ISO	RGD:1602686	D	RGD:7240710	20220316	OMIM			
8752614	Clmp	CXADR like cell adhesion molecule	gene	DOID:10605	short bowel syndrome		ISO	RGD:1602686	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL SHORT BOWEL SYNDROME | ClinVar Annotator: match by term: Congenital short bowel syndrome | ClinVar Annotator: match by term: Congenital short bowel syndrome, autosomal recessive	PMID:25741868|PMID:27352967
8752614	Clmp	CXADR like cell adhesion molecule	gene	DOID:1324	lung cancer		ISO	RGD:1602686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8752614	Clmp	CXADR like cell adhesion molecule	gene	DOID:3275	thymoma		ISO	RGD:1602686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8752614	Clmp	CXADR like cell adhesion molecule	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8752614	Clmp	CXADR like cell adhesion molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752614	Clmp	CXADR like cell adhesion molecule	gene	DOID:630	genetic disease		ISO	RGD:1602686	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8752625	Fastkd5	FAST kinase domains 5	gene	DOID:5419	schizophrenia		ISO	RGD:1602469	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
8752645	Cfap276	cilia and flagella associated protein 276	gene	DOID:0050543	Charcot-Marie-Tooth disease intermediate type		ISO	RGD:1319313	D	RGD:9068941	20220825	MouseDO			
8752645	Cfap276	cilia and flagella associated protein 276	gene	DOID:12365	malaria		ISO	RGD:1604538	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Malaria, susceptibility to	
8752645	Cfap276	cilia and flagella associated protein 276	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752660	Bud23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8752660	Bud23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8752660	Bud23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:10534	stomach cancer		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8752660	Bud23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8752660	Bud23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:1115	sarcoma		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8752660	Bud23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:1324	lung cancer		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8752660	Bud23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:1909	melanoma		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8752660	Bud23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:1928	Williams-Beuren syndrome		ISO	RGD:1344086	D	RGD:9068941	20250724	RGD			PMID:11978965|REF_RGD_ID:1580601
8752660	Bud23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8752660	Bud23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:3070	high grade glioma		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8752660	Bud23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:4362	cervical cancer		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8752660	Bud23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1344086	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8752660	Bud23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752660	Bud23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8752660	Bud23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8752660	Bud23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8752679	Cptp	ceramide-1-phosphate transfer protein	gene	DOID:10534	stomach cancer		ISO	RGD:2289752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8752679	Cptp	ceramide-1-phosphate transfer protein	gene	DOID:1115	sarcoma		ISO	RGD:2289752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8752679	Cptp	ceramide-1-phosphate transfer protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2289752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8752679	Cptp	ceramide-1-phosphate transfer protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2289752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8752679	Cptp	ceramide-1-phosphate transfer protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2289752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8752687	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8752687	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8752687	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:10283	prostate cancer		ISO	RGD:1321386	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8752687	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:10283	prostate cancer		ISO	RGD:1321386	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8752687	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8752687	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8752687	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:1324	lung cancer		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8752687	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:1909	melanoma		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8752687	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8752687	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1321386	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8752687	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8752687	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752687	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8752687	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8752687	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8752687	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8752712	Gys1	glycogen synthase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8752712	Gys1	glycogen synthase 1	gene	DOID:0061272	muscle glycogen storage disease		ISO	RGD:1320086	D	RGD:7240710	20180130	OMIM			
8752712	Gys1	glycogen synthase 1	gene	DOID:0061272	muscle glycogen storage disease		ISO	RGD:1320086	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: GYS1-related condition | ClinVar Annotator: match by term: Glycogen storage disease 0, muscle | ClinVar Annotator: match by term: MUSCLE GLYCOGEN SYNTHASE DEFICIENCY | ClinVar Annotator: match by term: Muscle glycogen synthase deficiency	PMID:16199547|PMID:17576681|PMID:17928598|PMID:19699667|PMID:25741868|PMID:28492532|PMID:9536098
8752712	Gys1	glycogen synthase 1	gene	DOID:0110668	congenital myasthenic syndrome 10		ISO	RGD:1320086	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 10	PMID:25741868
8752712	Gys1	glycogen synthase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8752712	Gys1	glycogen synthase 1	gene	DOID:1115	sarcoma		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:17576681|PMID:28492532|PMID:9536098
8752712	Gys1	glycogen synthase 1	gene	DOID:1287	cardiovascular system disease	severity	ISO	RGD:1320086	D	RGD:9068941	20200609	RGD			PMID:17356695|REF_RGD_ID:2313172
8752712	Gys1	glycogen synthase 1	gene	DOID:1324	lung cancer		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8752712	Gys1	glycogen synthase 1	gene	DOID:1826	epilepsy		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
8752712	Gys1	glycogen synthase 1	gene	DOID:1909	melanoma		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8752712	Gys1	glycogen synthase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8752712	Gys1	glycogen synthase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8752712	Gys1	glycogen synthase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8752712	Gys1	glycogen synthase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8752712	Gys1	glycogen synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752712	Gys1	glycogen synthase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8752712	Gys1	glycogen synthase 1	gene	DOID:630	genetic disease		ISO	RGD:1320086	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8752712	Gys1	glycogen synthase 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:28492532
8752712	Gys1	glycogen synthase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:28492532
8752712	Gys1	glycogen synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:17576681|PMID:28492532|PMID:9536098
8752712	Gys1	glycogen synthase 1	gene	DOID:9007692	Insulin Resistance	susceptibility	ISO	RGD:1320086	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:exon:p.M416V (human)	PMID:9267990|REF_RGD_ID:2313176
8752712	Gys1	glycogen synthase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8752739	Cldn8	claudin 8	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1318427	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:28377727
8752745	Lsm2	LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8752745	Lsm2	LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:1324	lung cancer		ISO	RGD:1350592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8752745	Lsm2	LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752745	Lsm2	LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8752745	Lsm2	LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:0080600	COVID-19		ISO	RGD:70825	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:0112231	lissencephaly 7 with cerebellar hypoplasia		ISO	RGD:70825	D	RGD:7240710	20180130	OMIM			
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:0112231	lissencephaly 7 with cerebellar hypoplasia		ISO	RGD:70825	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: CDK5-related condition | ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia	PMID:25741868|PMID:28492532|PMID:40186457
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:10652	Alzheimer's disease		ISO	RGD:70825	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:g.149800G>C (human)	PMID:15917097|REF_RGD_ID:13782365
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:70514	D	RGD:9068941	20200609	RGD			PMID:28269780|REF_RGD_ID:13508590
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:70826	D	RGD:9068941	20200609	RGD			PMID:28085018|REF_RGD_ID:13792587
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:12098	trigeminal neuralgia		ISO	RGD:70514	D	RGD:9068941	20200609	RGD			PMID:21161138|REF_RGD_ID:13782378
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:1324	lung cancer		ISO	RGD:70825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:70514	D	RGD:9068941	20200609	RGD			PMID:21682945|REF_RGD_ID:13782377
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:70514	D	RGD:9068941	20200609	RGD			PMID:28254431|REF_RGD_ID:13506925
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:2316	brain ischemia		ISO	RGD:70514	D	RGD:9068941	20200609	RGD			PMID:14502288|REF_RGD_ID:734740
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:70825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:70826	D	RGD:9068941	20200609	RGD			PMID:11343650|REF_RGD_ID:734741
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:70826	D	RGD:9068941	20200609	RGD			PMID:24920629|REF_RGD_ID:13782375
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:70825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:70825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:670	amphetamine abuse		ISO	RGD:70826	D	RGD:9068941	20231118	RGD		protein:increased expression:ventral tegmental area, nucleus accumbens (mouse)	PMID:28782589|REF_RGD_ID:401900303
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:680	tauopathy		ISO	RGD:70825	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26945731
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:8725	vascular dementia	treatment	ISO	RGD:70514	D	RGD:9068941	20200609	RGD			PMID:27118553|REF_RGD_ID:13792766
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:9002138	Spinal Cord Reperfusion Injury	treatment	ISO	RGD:70514	D	RGD:9068941	20200609	RGD			PMID:25301568|REF_RGD_ID:13782374
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:9004974	Painful Neuropathy	treatment	ISO	RGD:70514	D	RGD:9068941	20260423	RGD			PMID:24659417|REF_RGD_ID:401940123
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:9005372	Inflammation		ISO	RGD:70514	D	RGD:9068941	20200609	RGD			PMID:16407116|REF_RGD_ID:13782383
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:70826	D	RGD:9068941	20200609	RGD			PMID:11268215|REF_RGD_ID:734739
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:70825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:70825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:9009105	HIV Encephalitis		ISO	RGD:70514	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:hippocampus	PMID:28107387|REF_RGD_ID:13506927
8752753	Cdk5	cyclin dependent kinase 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:70825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8752772	Klc4	kinesin light chain 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8752772	Klc4	kinesin light chain 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8752772	Klc4	kinesin light chain 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8752772	Klc4	kinesin light chain 4	gene	DOID:1115	sarcoma		ISO	RGD:1315239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8752772	Klc4	kinesin light chain 4	gene	DOID:1909	melanoma		ISO	RGD:1315239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8752772	Klc4	kinesin light chain 4	gene	DOID:3070	high grade glioma		ISO	RGD:1315239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8752772	Klc4	kinesin light chain 4	gene	DOID:4362	cervical cancer		ISO	RGD:1315239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8752772	Klc4	kinesin light chain 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1315239	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8752772	Klc4	kinesin light chain 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752772	Klc4	kinesin light chain 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8752772	Klc4	kinesin light chain 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8752772	Klc4	kinesin light chain 4	gene	DOID:9009333	NEURODEGENERATION, EARLY-CHILDHOOD-ONSET, WITH RETINITIS PIGMENTOSA, SENSORINEURAL HEARING LOSS, AND DEMYELINATING PERIPHERAL NEUROPATHY		ISO	RGD:1315239	D	RGD:7240710	20250430	OMIM			
8752772	Klc4	kinesin light chain 4	gene	DOID:9009333	NEURODEGENERATION, EARLY-CHILDHOOD-ONSET, WITH RETINITIS PIGMENTOSA, SENSORINEURAL HEARING LOSS, AND DEMYELINATING PERIPHERAL NEUROPATHY		ISO	RGD:1315239	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy	PMID:25741868
8752802	Trim35	tripartite motif containing 35	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8752802	Trim35	tripartite motif containing 35	gene	DOID:1115	sarcoma		ISO	RGD:1344257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8752802	Trim35	tripartite motif containing 35	gene	DOID:2394	ovarian cancer		ISO	RGD:1344257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8752802	Trim35	tripartite motif containing 35	gene	DOID:3275	thymoma		ISO	RGD:1344257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8752802	Trim35	tripartite motif containing 35	gene	DOID:4362	cervical cancer		ISO	RGD:1344257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8752802	Trim35	tripartite motif containing 35	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8752802	Trim35	tripartite motif containing 35	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8752802	Trim35	tripartite motif containing 35	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8752812	Rpp38	ribonuclease P/MRP subunit p38	gene	DOID:1909	melanoma		ISO	RGD:1316690	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
8752812	Rpp38	ribonuclease P/MRP subunit p38	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752822	Actr8	actin related protein 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8752822	Actr8	actin related protein 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8752822	Actr8	actin related protein 8	gene	DOID:10534	stomach cancer		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8752822	Actr8	actin related protein 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8752822	Actr8	actin related protein 8	gene	DOID:1324	lung cancer		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8752822	Actr8	actin related protein 8	gene	DOID:1909	melanoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8752822	Actr8	actin related protein 8	gene	DOID:3275	thymoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8752822	Actr8	actin related protein 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8752822	Actr8	actin related protein 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8752822	Actr8	actin related protein 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752822	Actr8	actin related protein 8	gene	DOID:6039	uveal melanoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8752822	Actr8	actin related protein 8	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8752822	Actr8	actin related protein 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:0050590	severe congenital neutropenia		ISO	RGD:1603702	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital neutropenia	PMID:24753205
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:0050765	neuroacanthocytosis		ISO	RGD:1603702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthocytosis with neurologic disorder	PMID:10888887|PMID:10942435|PMID:11532986|PMID:15300850|PMID:16199547|PMID:19448635|PMID:25525159|PMID:25741868|PMID:28492532
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:0050766	choreaacanthocytosis		ISO	RGD:1603702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Choreaacanthocytosis	PMID:10888887|PMID:10942435|PMID:11532986|PMID:15300850|PMID:16199547|PMID:19448635|PMID:25525159|PMID:25741868|PMID:28492532
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:0080625	severe congenital neutropenia 1		ISO	RGD:1603702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant	PMID:24753205
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:0110942	autosomal recessive osteopetrosis 1		ISO	RGD:1603702	D	RGD:7240710	20180130	OMIM			
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:0110942	autosomal recessive osteopetrosis 1		ISO	RGD:1603702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALBERS-SCHONBERG DISEASE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Osteopetrosis autosomal recessive 1 | ClinVar Annotator: match by term: TCIRG1-related condition	PMID:10888887|PMID:10942435|PMID:11532986|PMID:11856654|PMID:12507890|PMID:12552563|PMID:14675409|PMID:15300850|PMID:16199547|PMID:16840787|PMID:17400532|PMID:17576681|PMID:18715141|PMID:19448635|PMID:19507210|PMID:20424301|PMID:21042819|PMID:22231430|PMID:22685294|PMID:23412864|PMID:23721911|PMID:23907031|PMID:24033266|PMID:24101165|PMID:24108692|PMID:24535484|PMID:24753205|PMID:24989235|PMID:25018813|PMID:25525159|PMID:25741868|PMID:25829125|PMID:26777052|PMID:27229898|PMID:27323593|PMID:28492532|PMID:28604959|PMID:28816234|PMID:29363653|PMID:29431110|PMID:29723947|PMID:30084437|PMID:30431110|PMID:30537558|PMID:30539151|PMID:30898715|PMID:31111556|PMID:31319225|PMID:31501239|PMID:31567691|PMID:31589614|PMID:31794943|PMID:31949009|PMID:31949762|PMID:32411386|PMID:34095139|PMID:34545712|PMID:34753502|PMID:35915932|PMID:37107657|PMID:37189924|PMID:38178268|PMID:38261998|PMID:38374194|PMID:39011244|PMID:39875016|PMID:40130161|PMID:40562302|PMID:9506970|PMID:9536098
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:0112083	nuclear type mitochondrial complex I deficiency 2		ISO	RGD:1603702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2	PMID:25741868|PMID:28492532
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:11836	clubfoot		ISO	RGD:1552412	D	RGD:9068941	20220825	MouseDO		OMIM:119800	
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:1227	neutropenia		ISO	RGD:1603702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neutropenia	PMID:25741868|PMID:28492532
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:13533	osteopetrosis		ISO	RGD:1603702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Osteopetrosis	PMID:10888887|PMID:10942435|PMID:11532986|PMID:12552563|PMID:14675409|PMID:15300850|PMID:16199547|PMID:16840787|PMID:18715141|PMID:19448635|PMID:19507210|PMID:20424301|PMID:21042819|PMID:22231430|PMID:23721911|PMID:24033266|PMID:24101165|PMID:24108692|PMID:24535484|PMID:24753205|PMID:25525159|PMID:25741868|PMID:28492532|PMID:29363653|PMID:29431110|PMID:30084437|PMID:30431110|PMID:30539151|PMID:30898715|PMID:31501239|PMID:31567691|PMID:31589614|PMID:31949009|PMID:31949762|PMID:32411386|PMID:34203247|PMID:34545712|PMID:34753502|PMID:36964972|PMID:37107657|PMID:37189924|PMID:38374194|PMID:39875016|PMID:40130161|PMID:40562302
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:1588	thrombocytopenia		ISO	RGD:1603702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:10888887|PMID:10942435|PMID:11532986|PMID:15300850|PMID:16199547|PMID:19448635|PMID:24108692|PMID:25741868|PMID:28492532|PMID:37107657|PMID:40130161
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:1909	melanoma		ISO	RGD:1603702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:2355	anemia		ISO	RGD:1603702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:10888887|PMID:10942435|PMID:11532986|PMID:15300850|PMID:16199547|PMID:19448635|PMID:24108692|PMID:25741868|PMID:28492532|PMID:37107657|PMID:40130161
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:4362	cervical cancer		ISO	RGD:1603702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:10888887|PMID:11532986|PMID:15300850|PMID:19507210|PMID:24033266|PMID:24753205|PMID:25525159|PMID:25741868|PMID:28492532|PMID:29431110|PMID:30898715|PMID:31589614|PMID:31949009
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:5041	esophageal cancer		ISO	RGD:1603702	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532|PMID:30431110|PMID:30539151
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:583	hemolytic anemia		ISO	RGD:1603702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia	PMID:25741868
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:630	genetic disease		ISO	RGD:1603702	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10942435|PMID:15300850|PMID:17400532|PMID:17576681|PMID:19507210|PMID:24989235|PMID:25741868|PMID:28492532|PMID:9536098
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:9002589	Bone Fractures		ISO	RGD:1603702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:25741868
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:9002720	Splenomegaly		ISO	RGD:1603702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:9003566	Mesothelioma		ISO	RGD:1603702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:9003816	Macrocephaly		ISO	RGD:1603702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:10888887|PMID:11532986|PMID:15300850|PMID:19507210|PMID:24033266|PMID:24753205|PMID:25525159|PMID:25741868|PMID:28492532|PMID:29431110|PMID:30898715|PMID:31589614|PMID:31949009
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:9006667	Dysosteosclerosis		ISO	RGD:1603702	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: dysosteosclerosis	PMID:25741868
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:9008763	Femoral Fractures		ISO	RGD:1603702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Femur fracture	PMID:25741868
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8752843	Tcirg1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	gene	DOID:930	orbital disease		ISO	RGD:1603702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:10888887|PMID:11532986|PMID:15300850|PMID:19507210|PMID:24033266|PMID:24753205|PMID:25525159|PMID:25741868|PMID:28492532|PMID:29431110|PMID:30898715|PMID:31589614|PMID:31949009
8752871	Styxl1	serine/threonine/tyrosine interacting like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8752871	Styxl1	serine/threonine/tyrosine interacting like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8752871	Styxl1	serine/threonine/tyrosine interacting like 1	gene	DOID:1909	melanoma		ISO	RGD:1353281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8752871	Styxl1	serine/threonine/tyrosine interacting like 1	gene	DOID:3070	high grade glioma		ISO	RGD:1353281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8752871	Styxl1	serine/threonine/tyrosine interacting like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353281	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8752871	Styxl1	serine/threonine/tyrosine interacting like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752871	Styxl1	serine/threonine/tyrosine interacting like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8752871	Styxl1	serine/threonine/tyrosine interacting like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8752871	Styxl1	serine/threonine/tyrosine interacting like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8752893	Rffl	ring finger and FYVE like domain containing E3 ubiquitin protein ligase	gene	DOID:10763	hypertension		ISO	RGD:727916	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:heart	PMID:21357277|REF_RGD_ID:13442502
8752924	Il7r	interleukin 7 receptor	gene	DOID:0051062	ischemic stroke		ISO	RGD:1309776	D	RGD:9068941	20260611	RGD		protein:increased expression:cerebral cortex:	PMID:30676545|REF_RGD_ID:151347693
8752924	Il7r	interleukin 7 receptor	gene	DOID:0080600	COVID-19		ISO	RGD:1320295	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8752924	Il7r	interleukin 7 receptor	gene	DOID:0090014	severe combined immunodeficiency 104		ISO	RGD:1320295	D	RGD:7240710	20250305	OMIM			
8752924	Il7r	interleukin 7 receptor	gene	DOID:0090014	severe combined immunodeficiency 104		ISO	RGD:1320295	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: IL7R-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 104, SEVERE COMBINED | ClinVar Annotator: match by term: Immunodeficiency 104 | ClinVar Annotator: match by term: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive	PMID:15661025|PMID:16199547|PMID:16492442|PMID:17201233|PMID:17576681|PMID:17827065|PMID:18442948|PMID:18641513|PMID:19763152|PMID:19890784|PMID:20021794|PMID:20307669|PMID:21184155|PMID:21664875|PMID:22039266|PMID:22406018|PMID:23810098|PMID:24033266|PMID:24578017|PMID:24759676|PMID:25046553|PMID:25255367|PMID:25741868|PMID:26123418|PMID:27593400|PMID:27807805|PMID:27833609|PMID:28492532|PMID:29551298|PMID:30290665|PMID:30778343|PMID:30858051|PMID:31031743|PMID:31379863|PMID:32373116|PMID:32888943|PMID:33040328|PMID:33628209|PMID:34573280|PMID:35418989|PMID:35503492|PMID:38274105|PMID:38587703|PMID:9536098|PMID:9843216
8752924	Il7r	interleukin 7 receptor	gene	DOID:10534	stomach cancer	susceptibility	ISO	RGD:1320295	D	RGD:9068941	20220204	RGD		DNA:SNPs,haplotype:IVS,exon:1560 G>A (rs1389832),33 A>G(rs1494555), 1472 A>C (rs1494556)(human)	PMID:18687755|REF_RGD_ID:151347690
8752924	Il7r	interleukin 7 receptor	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1320295	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21399635
8752924	Il7r	interleukin 7 receptor	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1320295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:21536738|PMID:35101336
8752924	Il7r	interleukin 7 receptor	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:1320295	D	RGD:9068941	20220204	RGD		DNA:deletion: :	PMID:29755661|REF_RGD_ID:126779581
8752924	Il7r	interleukin 7 receptor	gene	DOID:2377	multiple sclerosis		ISO	RGD:1320295	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:17660530|PMID:17660816|PMID:17660817|PMID:19525955
8752924	Il7r	interleukin 7 receptor	gene	DOID:289	endometriosis		ISO	RGD:1320295	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
8752924	Il7r	interleukin 7 receptor	gene	DOID:3275	thymoma		ISO	RGD:1320295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8752924	Il7r	interleukin 7 receptor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8752924	Il7r	interleukin 7 receptor	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1320295	D	RGD:9068941	20220204	RGD			PMID:21159243|REF_RGD_ID:151347686
8752924	Il7r	interleukin 7 receptor	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:1320295	D	RGD:9068941	20220204	RGD		DNA:SNPs:: rs1494555,rs7737000(human)	PMID:19505916|REF_RGD_ID:4142793
8752924	Il7r	interleukin 7 receptor	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1320295	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21892159
8752924	Il7r	interleukin 7 receptor	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1320295	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:15661025|PMID:16199547|PMID:16492442|PMID:17201233|PMID:17827065|PMID:18442948|PMID:18641513|PMID:21664875|PMID:22039266|PMID:23810098|PMID:24578017|PMID:24759676|PMID:25255367|PMID:25741868|PMID:26123418|PMID:27593400|PMID:27833609|PMID:28492532|PMID:32373116|PMID:33084842|PMID:34573280|PMID:35503492|PMID:38274105
8752924	Il7r	interleukin 7 receptor	gene	DOID:630	genetic disease		ISO	RGD:1320295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8752924	Il7r	interleukin 7 receptor	gene	DOID:7474	malignant pleural mesothelioma	disease_progression	ISO	RGD:1320295	D	RGD:9068941	20220204	RGD			PMID:26155428|REF_RGD_ID:151347688
8752924	Il7r	interleukin 7 receptor	gene	DOID:8577	ulcerative colitis		ISO	RGD:1320295	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21297633
8752924	Il7r	interleukin 7 receptor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320295	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8752924	Il7r	interleukin 7 receptor	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1320295	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21892159
8752924	Il7r	interleukin 7 receptor	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1320295	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast neoplasm	
8752924	Il7r	interleukin 7 receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8752924	Il7r	interleukin 7 receptor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8752924	Il7r	interleukin 7 receptor	gene	DOID:9415	allergic asthma		ISO	RGD:1320295	D	RGD:9068941	20260514	RGD		mRNA:increased expression:peripheral blood mononuclear cell	PMID:26999524|REF_RGD_ID:713699936
8752924	Il7r	interleukin 7 receptor	gene	DOID:9538	multiple myeloma		ISO	RGD:1320295	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
8752940	Znf704	zinc finger protein 704	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8752940	Znf704	zinc finger protein 704	gene	DOID:4362	cervical cancer		ISO	RGD:1605749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8752940	Znf704	zinc finger protein 704	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752952	Tmem230	transmembrane protein 230	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8752952	Tmem230	transmembrane protein 230	gene	DOID:0060058	lymphoma		ISO	RGD:1316576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8752952	Tmem230	transmembrane protein 230	gene	DOID:10283	prostate cancer		ISO	RGD:1316576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8752952	Tmem230	transmembrane protein 230	gene	DOID:10283	prostate cancer		ISO	RGD:1316576	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8752952	Tmem230	transmembrane protein 230	gene	DOID:1115	sarcoma		ISO	RGD:1316576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8752952	Tmem230	transmembrane protein 230	gene	DOID:14330	Parkinson's disease		ISO	RGD:1316576	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27270108
8752952	Tmem230	transmembrane protein 230	gene	DOID:4990	essential tremor		ISO	RGD:1316576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Essential tremor	
8752952	Tmem230	transmembrane protein 230	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752952	Tmem230	transmembrane protein 230	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8752994	Stk4	serine/threonine kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8752994	Stk4	serine/threonine kinase 4	gene	DOID:0080855	Parkinsonism		ISO	RGD:1323808	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:22174160|PMID:25741868|PMID:28492532|PMID:34146746
8752994	Stk4	serine/threonine kinase 4	gene	DOID:10908	hydrocephalus		ISO	RGD:1323808	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:22174160|PMID:25741868|PMID:28492532|PMID:34146746
8752994	Stk4	serine/threonine kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
8752994	Stk4	serine/threonine kinase 4	gene	DOID:1596	depressive disorder		ISO	RGD:1323808	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Depression	PMID:22174160|PMID:25741868|PMID:28492532|PMID:34146746
8752994	Stk4	serine/threonine kinase 4	gene	DOID:3275	thymoma		ISO	RGD:1323808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8752994	Stk4	serine/threonine kinase 4	gene	DOID:3312	bipolar disorder		ISO	RGD:1323808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
8752994	Stk4	serine/threonine kinase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1323808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8752994	Stk4	serine/threonine kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1323808	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8752994	Stk4	serine/threonine kinase 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8752994	Stk4	serine/threonine kinase 4	gene	DOID:5723	optic atrophy		ISO	RGD:1323808	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:22174160|PMID:25741868|PMID:28492532|PMID:34146746
8752994	Stk4	serine/threonine kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8752994	Stk4	serine/threonine kinase 4	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1323808	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency disease	
8752994	Stk4	serine/threonine kinase 4	gene	DOID:630	genetic disease		ISO	RGD:1323808	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8752994	Stk4	serine/threonine kinase 4	gene	DOID:9000240	T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations		ISO	RGD:1323808	D	RGD:7240710	20180130	OMIM			
8752994	Stk4	serine/threonine kinase 4	gene	DOID:9000240	T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations		ISO	RGD:1323808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: STK4-related condition | ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations	PMID:25741868|PMID:28492532
8752994	Stk4	serine/threonine kinase 4	gene	DOID:9000495	Tremor		ISO	RGD:1323808	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Action tremor	PMID:22174160|PMID:25741868|PMID:28492532|PMID:34146746
8752994	Stk4	serine/threonine kinase 4	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1323808	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mental deterioration	PMID:22174160|PMID:25741868|PMID:28492532|PMID:34146746
8752994	Stk4	serine/threonine kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8753009	Sema3e	semaphorin 3E	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1322177	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inflammatory bowel disease	PMID:25741868
8753009	Sema3e	semaphorin 3E	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1322177	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: CHARGE association	PMID:15235037|PMID:17576681|PMID:25640679|PMID:25741868|PMID:25985275|PMID:26467025|PMID:27854218|PMID:28492532|PMID:32870266|PMID:9536098
8753009	Sema3e	semaphorin 3E	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1322177	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES | ClinVar Annotator: match by term: CHARGE association | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar Annotator: match by term: Hall-Hittner syndrome	PMID:15235037|PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:25985275|PMID:26467025|PMID:28492532|PMID:30773290|PMID:32441320|PMID:32870266|PMID:35628442|PMID:9536098
8753009	Sema3e	semaphorin 3E	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1322177	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES | ClinVar Annotator: match by term: CHARGE association | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar Annotator: match by term: Hall-Hittner syndrome	PMID:15235037|PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:25985275|PMID:26467025|PMID:28492532|PMID:30773290|PMID:31328266|PMID:32441320|PMID:32870266|PMID:35628442|PMID:9536098
8753009	Sema3e	semaphorin 3E	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1322177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES | ClinVar Annotator: match by term: CHARGE association | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar Annotator: match by term: CHD7-related condition | ClinVar Annotator: match by term: Charge syndrome | ClinVar Annotator: match by term: Hall-Hittner syndrome	PMID:15235037|PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:25985275|PMID:28492532|PMID:30773290|PMID:31328266|PMID:32870266|PMID:34348883|PMID:9536098
8753009	Sema3e	semaphorin 3E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753009	Sema3e	semaphorin 3E	gene	DOID:0060180	colitis		ISO	RGD:1322177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colitis	PMID:25741868
8753009	Sema3e	semaphorin 3E	gene	DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia		ISO	RGD:1322177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia	PMID:25741868|PMID:28492532|PMID:34348883
8753009	Sema3e	semaphorin 3E	gene	DOID:0090084	hypogonadotropic hypogonadism 5 with or without anosmia		ISO	RGD:1322177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia	PMID:25741868|PMID:28492532
8753009	Sema3e	semaphorin 3E	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1322177	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	
8753009	Sema3e	semaphorin 3E	gene	DOID:0111807	syndromic microphthalmia 9		ISO	RGD:1322177	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome	PMID:25741868|PMID:28492532
8753009	Sema3e	semaphorin 3E	gene	DOID:1059	intellectual disability		ISO	RGD:1322177	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8753009	Sema3e	semaphorin 3E	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8753009	Sema3e	semaphorin 3E	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322177	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	
8753009	Sema3e	semaphorin 3E	gene	DOID:13938	amenorrhea		ISO	RGD:1322177	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:28492532|PMID:32870266
8753009	Sema3e	semaphorin 3E	gene	DOID:1909	melanoma		ISO	RGD:1322177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8753009	Sema3e	semaphorin 3E	gene	DOID:224	transient cerebral ischemia	disease_progression	ISO	RGD:1310973	D	RGD:9068941	20221117	RGD			PMID:30653356|REF_RGD_ID:155663383
8753009	Sema3e	semaphorin 3E	gene	DOID:5041	esophageal cancer		ISO	RGD:1322177	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8753009	Sema3e	semaphorin 3E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753009	Sema3e	semaphorin 3E	gene	DOID:9004226	Hittner Hirsch Kreh Syndrome		ISO	RGD:1322177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome	PMID:15235037|PMID:17576681|PMID:25741868|PMID:25985275|PMID:28492532|PMID:9536098
8753042	Cib4	calcium and integrin binding family member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753054	Tfcp2l1	transcription factor CP2 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753054	Tfcp2l1	transcription factor CP2 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1313494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8753054	Tfcp2l1	transcription factor CP2 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753054	Tfcp2l1	transcription factor CP2 like 1	gene	DOID:784	chronic kidney disease		ISO	RGD:1313494	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:33097957
8753054	Tfcp2l1	transcription factor CP2 like 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8753054	Tfcp2l1	transcription factor CP2 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753054	Tfcp2l1	transcription factor CP2 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8753086	Fibcd1	fibrinogen C domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8753086	Fibcd1	fibrinogen C domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1319244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
8753086	Fibcd1	fibrinogen C domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8753086	Fibcd1	fibrinogen C domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753097	Kif13b	kinesin family member 13B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8753097	Kif13b	kinesin family member 13B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753097	Kif13b	kinesin family member 13B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8753097	Kif13b	kinesin family member 13B	gene	DOID:10534	stomach cancer		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8753097	Kif13b	kinesin family member 13B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8753097	Kif13b	kinesin family member 13B	gene	DOID:1324	lung cancer		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8753097	Kif13b	kinesin family member 13B	gene	DOID:1909	melanoma		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8753097	Kif13b	kinesin family member 13B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8753097	Kif13b	kinesin family member 13B	gene	DOID:3070	high grade glioma		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8753097	Kif13b	kinesin family member 13B	gene	DOID:3275	thymoma		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8753097	Kif13b	kinesin family member 13B	gene	DOID:4362	cervical cancer		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8753097	Kif13b	kinesin family member 13B	gene	DOID:5041	esophageal cancer		ISO	RGD:1349792	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8753097	Kif13b	kinesin family member 13B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753097	Kif13b	kinesin family member 13B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8753097	Kif13b	kinesin family member 13B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8753097	Kif13b	kinesin family member 13B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753097	Kif13b	kinesin family member 13B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8753097	Kif13b	kinesin family member 13B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8753141	Lrrc47	leucine rich repeat containing 47	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753141	Lrrc47	leucine rich repeat containing 47	gene	DOID:10534	stomach cancer		ISO	RGD:1603205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8753141	Lrrc47	leucine rich repeat containing 47	gene	DOID:1909	melanoma		ISO	RGD:1603205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8753141	Lrrc47	leucine rich repeat containing 47	gene	DOID:3275	thymoma		ISO	RGD:1603205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8753141	Lrrc47	leucine rich repeat containing 47	gene	DOID:4362	cervical cancer		ISO	RGD:1603205	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8753141	Lrrc47	leucine rich repeat containing 47	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8753141	Lrrc47	leucine rich repeat containing 47	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8753141	Lrrc47	leucine rich repeat containing 47	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753141	Lrrc47	leucine rich repeat containing 47	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8753141	Lrrc47	leucine rich repeat containing 47	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753161	Dazap2	DAZ associated protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753161	Dazap2	DAZ associated protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stomach cancer	
8753161	Dazap2	DAZ associated protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753161	Dazap2	DAZ associated protein 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8753161	Dazap2	DAZ associated protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753175	Dmac2l	distal membrane arm assembly component 2 like	gene	DOID:10534	stomach cancer		ISO	RGD:1343474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8753175	Dmac2l	distal membrane arm assembly component 2 like	gene	DOID:1324	lung cancer		ISO	RGD:1343474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8753175	Dmac2l	distal membrane arm assembly component 2 like	gene	DOID:1909	melanoma		ISO	RGD:1343474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8753187	CUNH4orf17	chromosome unknown C4orf17 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1352720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8753187	CUNH4orf17	chromosome unknown C4orf17 homolog	gene	DOID:3275	thymoma		ISO	RGD:1352720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8753187	CUNH4orf17	chromosome unknown C4orf17 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1352720	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8753201	Pllp	plasmolipin	gene	DOID:1790	malignant mesothelioma		ISO	RGD:736785	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
8753201	Pllp	plasmolipin	gene	DOID:5419	schizophrenia		ISO	RGD:736785	D	RGD:9068941	20200609	RGD			PMID:15334603|REF_RGD_ID:1358792
8753201	Pllp	plasmolipin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753210	Upf3a	UPF3A regulator of nonsense mediated mRNA decay	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318748	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8753210	Upf3a	UPF3A regulator of nonsense mediated mRNA decay	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753210	Upf3a	UPF3A regulator of nonsense mediated mRNA decay	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8753210	Upf3a	UPF3A regulator of nonsense mediated mRNA decay	gene	DOID:4362	cervical cancer		ISO	RGD:1318748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8753210	Upf3a	UPF3A regulator of nonsense mediated mRNA decay	gene	DOID:5041	esophageal cancer		ISO	RGD:1318748	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8753210	Upf3a	UPF3A regulator of nonsense mediated mRNA decay	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753210	Upf3a	UPF3A regulator of nonsense mediated mRNA decay	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8753210	Upf3a	UPF3A regulator of nonsense mediated mRNA decay	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753210	Upf3a	UPF3A regulator of nonsense mediated mRNA decay	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8753221	Syt12	synaptotagmin 12	gene	DOID:1324	lung cancer		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8753221	Syt12	synaptotagmin 12	gene	DOID:1826	epilepsy		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8753221	Syt12	synaptotagmin 12	gene	DOID:1969	cerebral palsy		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
8753221	Syt12	synaptotagmin 12	gene	DOID:480	movement disease		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
8753221	Syt12	synaptotagmin 12	gene	DOID:5041	esophageal cancer		ISO	RGD:737534	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8753221	Syt12	synaptotagmin 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753221	Syt12	synaptotagmin 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8753221	Syt12	synaptotagmin 12	gene	DOID:7998	hyperthyroidism		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
8753221	Syt12	synaptotagmin 12	gene	DOID:9001276	Failure to Thrive		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8753221	Syt12	synaptotagmin 12	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8753221	Syt12	synaptotagmin 12	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
8753221	Syt12	synaptotagmin 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753221	Syt12	synaptotagmin 12	gene	DOID:9007661	Dwarfism		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8753221	Syt12	synaptotagmin 12	gene	DOID:9834	hyperopia		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
8753232	Tceal1	transcription elongation factor A like 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1352968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
8753232	Tceal1	transcription elongation factor A like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753232	Tceal1	transcription elongation factor A like 1	gene	DOID:630	genetic disease		ISO	RGD:1352968	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8753232	Tceal1	transcription elongation factor A like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753232	Tceal1	transcription elongation factor A like 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1352968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
8753232	Tceal1	transcription elongation factor A like 1	gene	DOID:9008698	NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED		ISO	RGD:1352968	D	RGD:7240710	20230505	OMIM			
8753232	Tceal1	transcription elongation factor A like 1	gene	DOID:9008698	NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED		ISO	RGD:1352968	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: HIJAZI-REIS SYNDROME | ClinVar Annotator: match by term: Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked	PMID:25741868|PMID:36368327
8753235	Tmem150b	transmembrane protein 150B	gene	DOID:0080600	COVID-19		ISO	RGD:2304150	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8753235	Tmem150b	transmembrane protein 150B	gene	DOID:1324	lung cancer		ISO	RGD:2304150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8753235	Tmem150b	transmembrane protein 150B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2304150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8753235	Tmem150b	transmembrane protein 150B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2304150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753235	Tmem150b	transmembrane protein 150B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2304150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8753248	Thumpd1	THUMP domain 1 NAT10 acetyltransferase adaptor	gene	DOID:9004131	NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES		ISO	RGD:1318865	D	RGD:7240710	20221221	OMIM			
8753259	Ubd	ubiquitin like modifier D	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:69468	D	RGD:9068941	20240229	RGD		protein:increased expression:liver (human)	PMID:30009772|REF_RGD_ID:401976534
8753259	Ubd	ubiquitin like modifier D	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:69468	D	RGD:9068941	20240229	RGD		protein:increased expression:liver (human)	PMID:30009772|REF_RGD_ID:401976534
8753259	Ubd	ubiquitin like modifier D	gene	DOID:10608	celiac disease		ISO	RGD:69468	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
8753259	Ubd	ubiquitin like modifier D	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:69468	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18422935
8753259	Ubd	ubiquitin like modifier D	gene	DOID:5844	myocardial infarction		ISO	RGD:69418	D	RGD:9068941	20210521	RGD		mRNA, protein; increased expression; myocardium (rat)	PMID:29438664|REF_RGD_ID:126925221
8753259	Ubd	ubiquitin like modifier D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69468	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19363144
8753259	Ubd	ubiquitin like modifier D	gene	DOID:9000722	Animal Hepatitis		ISO	RGD:69468	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18559427
8753259	Ubd	ubiquitin like modifier D	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:69468	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8753259	Ubd	ubiquitin like modifier D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753259	Ubd	ubiquitin like modifier D	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69468	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
8753263	Terf2	telomeric repeat binding factor 2	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1322036	D	RGD:9068941	20240425	MouseDO			
8753263	Terf2	telomeric repeat binding factor 2	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1322035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17643074
8753263	Terf2	telomeric repeat binding factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753263	Terf2	telomeric repeat binding factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8753263	Terf2	telomeric repeat binding factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8753263	Terf2	telomeric repeat binding factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1322035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8753263	Terf2	telomeric repeat binding factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322035	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8753263	Terf2	telomeric repeat binding factor 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1322035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8753263	Terf2	telomeric repeat binding factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753282	Klhl41	kelch like family member 41	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753282	Klhl41	kelch like family member 41	gene	DOID:0110929	nemaline myopathy 9		ISO	RGD:1351992	D	RGD:7240710	20180130	OMIM			
8753282	Klhl41	kelch like family member 41	gene	DOID:0110929	nemaline myopathy 9		ISO	RGD:1351992	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KLHL41-related condition | ClinVar Annotator: match by term: NEMALINE MYOPATHY 9 | ClinVar Annotator: match by term: Nemaline myopathy 9	PMID:16199547|PMID:24268659|PMID:25741868|PMID:28492532
8753282	Klhl41	kelch like family member 41	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1351992	D	RGD:9068941	20200609	RGD			PMID:11583900|REF_RGD_ID:1580798
8753282	Klhl41	kelch like family member 41	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8753282	Klhl41	kelch like family member 41	gene	DOID:3191	nemaline myopathy		ISO	RGD:1332188	D	RGD:9068941	20260521	MouseDO			
8753282	Klhl41	kelch like family member 41	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753282	Klhl41	kelch like family member 41	gene	DOID:630	genetic disease		ISO	RGD:1351992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8753294	Fastk	Fas activated serine/threonine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8753294	Fastk	Fas activated serine/threonine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753294	Fastk	Fas activated serine/threonine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1605699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8753294	Fastk	Fas activated serine/threonine kinase	gene	DOID:1115	sarcoma		ISO	RGD:1605699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8753294	Fastk	Fas activated serine/threonine kinase	gene	DOID:1909	melanoma		ISO	RGD:1605699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8753294	Fastk	Fas activated serine/threonine kinase	gene	DOID:3275	thymoma		ISO	RGD:1605699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8753294	Fastk	Fas activated serine/threonine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1605699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8753294	Fastk	Fas activated serine/threonine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1605699	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8753294	Fastk	Fas activated serine/threonine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753294	Fastk	Fas activated serine/threonine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8753294	Fastk	Fas activated serine/threonine kinase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8753294	Fastk	Fas activated serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:0050852	limb ischemia	ameliorates	ISO	RGD:1320241	D	RGD:9068941	20221117	RGD			PMID:35301145|REF_RGD_ID:155663375
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:0050852	limb ischemia	ameliorates	ISO	RGD:1320242	D	RGD:9068941	20221111	RGD			PMID:22252294|REF_RGD_ID:155663358
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:0050852	limb ischemia	exacerbates	ISO	RGD:1320242	D	RGD:9068941	20221104	RGD			PMID:20508179|REF_RGD_ID:155641249
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:0060227	Adams-Oliver syndrome		ISO	RGD:1320241	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Adams-Oliver Syndrome	PMID:26299364|PMID:29924900
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:0080322	polycystic kidney disease	treatment	ISO	RGD:1309740	D	RGD:9068941	20221217	RGD			PMID:32685025|REF_RGD_ID:155791442
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:10534	stomach cancer		ISO	RGD:1320241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:1115	sarcoma		ISO	RGD:1320241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:13025	retinopathy of prematurity	treatment	ISO	RGD:1309740	D	RGD:9068941	20221117	RGD			PMID:30652694|REF_RGD_ID:155663485
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1320241	D	RGD:9068941	20221110	RGD			PMID:20167860|REF_RGD_ID:155641260
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:1936	atherosclerosis	ameliorates	ISO	RGD:1320242	D	RGD:9068941	20221103	RGD			PMID:22699504|REF_RGD_ID:155641244
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:1320242	D	RGD:9068941	20221117	RGD			PMID:30909142|REF_RGD_ID:155663380
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:224	transient cerebral ischemia	ameliorates	ISO	RGD:1320242	D	RGD:9068941	20221111	RGD			PMID:31927543|REF_RGD_ID:155663354
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:224	transient cerebral ischemia	disease_progression	ISO	RGD:1309740	D	RGD:9068941	20221117	RGD			PMID:30653356|REF_RGD_ID:155663383
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:1309740	D	RGD:9068941	20221117	RGD			PMID:30258350|REF_RGD_ID:155663419
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:264	hemangiopericytoma		ISO	RGD:1320241	D	RGD:9068941	20221110	RGD		mRNA,protein:increased expression:anterior temporal lobe	PMID:26951238|REF_RGD_ID:155663351
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:3021	acute kidney failure	ameliorates	ISO	RGD:1320242	D	RGD:9068941	20221117	RGD			PMID:19828677|REF_RGD_ID:155663373
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:3070	high grade glioma	ameliorates	ISO	RGD:1320242	D	RGD:9068941	20221217	RGD			PMID:17183313|REF_RGD_ID:155791441
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:326	ischemia		ISO	RGD:1309740	D	RGD:9068941	20221110	RGD		mRNA,protein:increased expression:skin,endothelial cells	PMID:25834117|REF_RGD_ID:155663350
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:326	ischemia	ameliorates	ISO	RGD:1320242	D	RGD:9068941	20221111	RGD			PMID:22252294|REF_RGD_ID:155663358
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:3275	thymoma		ISO	RGD:1320241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:4362	cervical cancer		ISO	RGD:1320241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:4450	renal cell carcinoma	treatment	ISO	RGD:1320241	D	RGD:9068941	20221117	RGD			PMID:25618828|REF_RGD_ID:155663382
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1320241	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:5241	hemangioblastoma		ISO	RGD:1320241	D	RGD:9068941	20221110	RGD		mRNA,protein:increased expression:temporal lobe :	PMID:27388534|REF_RGD_ID:155641257
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:630	genetic disease		ISO	RGD:1320241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:28518168|PMID:32461654
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:6406	double outlet right ventricle	susceptibility	ISO	RGD:1320242	D	RGD:9068941	20221117	RGD			PMID:34859965|REF_RGD_ID:155663381
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1320242	D	RGD:9068941	20221110	RGD			PMID:34739767|REF_RGD_ID:155646132
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:799	varicose veins		ISO	RGD:1320241	D	RGD:9068941	20221110	RGD		mRNA,protein:increased expression:vein:	PMID:26808710|REF_RGD_ID:11529441
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1320242	D	RGD:9068941	20221110	RGD		mRNA,protein:increased expression:retina:	PMID:30787185|REF_RGD_ID:155663348
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:8947	diabetic retinopathy	severity	ISO	RGD:1320241	D	RGD:9068941	20221111	RGD			PMID:34362349|REF_RGD_ID:155663356
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9000146	Plaque, Atherosclerotic		ISO	RGD:1320242	D	RGD:9068941	20221103	RGD		protein:increased expression:aorta	PMID:22699504|REF_RGD_ID:155641244
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9000713	Surgical Wound	treatment	ISO	RGD:1309740	D	RGD:9068941	20221110	RGD		associated with type 1 diabetes mellitus;	PMID:34256844|REF_RGD_ID:155641256
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9000970	Focal Nodular Hyperplasia		ISO	RGD:1320241	D	RGD:9068941	20221110	RGD		mRNA:decreased expression:liver	PMID:23870033|REF_RGD_ID:155646133
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9001044	Choroidal Neovascularization	treatment	ISO	RGD:1309740	D	RGD:9068941	20221201	RGD			PMID:21063852|REF_RGD_ID:12859045
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9001919	Vascular Neoplasms		ISO	RGD:1309740	D	RGD:9068941	20221110	RGD			PMID:20147986|REF_RGD_ID:155641259
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	ameliorates	ISO	RGD:1320242	D	RGD:9068941	20221201	RGD			PMID:21813770|REF_RGD_ID:155663662
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9002909	Oxygen-Induced Retinopathy	treatment	ISO	RGD:1309740	D	RGD:9068941	20221201	RGD			PMID:26670826|REF_RGD_ID:155663663
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9003191	Vascular Malformations		ISO	RGD:1320241	D	RGD:9068941	20221111	RGD		protein:increased expression:intestine:	PMID:24219762|REF_RGD_ID:155663361
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9003191	Vascular Malformations		ISO	RGD:1320241	D	RGD:9068941	20221111	RGD		protein:increased expression:serum:	PMID:21955427|REF_RGD_ID:155663363
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:1320242	D	RGD:9068941	20221111	RGD			PMID:23188126|REF_RGD_ID:155663352
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9004397	Calcification of Aortic Valve	ameliorates	ISO	RGD:1320242	D	RGD:9068941	20221103	RGD			PMID:22699504|REF_RGD_ID:155641244
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9005333	Adams-Oliver Syndrome 6		ISO	RGD:1320241	D	RGD:7240710	20180130	OMIM			
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9005333	Adams-Oliver Syndrome 6		ISO	RGD:1320241	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADAMS-OLIVER SYNDROME 6 | ClinVar Annotator: match by term: Adams-Oliver syndrome 6 | ClinVar Annotator: match by term: DLL4-related condition	PMID:25741868|PMID:26299364|PMID:28492532|PMID:29924900|PMID:33899511|PMID:616589
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9005647	Experimental Autoimmune Uveitis	disease_progression	ISO	RGD:1309740	D	RGD:9068941	20221222	RGD			PMID:31209505|REF_RGD_ID:155791448
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9006151	Choroidal Neovascularization, Experimental	treatment	ISO	RGD:1309740	D	RGD:9068941	20221117	RGD			PMID:21526177|REF_RGD_ID:155663484
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9007102	Myocardial Ischemia	treatment	ISO	RGD:1309740	D	RGD:9068941	20221104	RGD			PMID:32089723|REF_RGD_ID:155641250
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9007730	Burns	treatment	ISO	RGD:1309740	D	RGD:9068941	20221117	RGD			PMID:28319529|REF_RGD_ID:155663481
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9008022	Temporomandibular Joint Osteoarthritis	disease_progression	ISO	RGD:1309740	D	RGD:9068941	20221217	RGD			PMID:28147322|REF_RGD_ID:155791443
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1320241	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21036696
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9351	diabetes mellitus		ISO	RGD:1309740	D	RGD:9068941	20221110	RGD		protein:increased expression:skin:	PMID:30886104|REF_RGD_ID:155646129
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9351	diabetes mellitus		ISO	RGD:1320242	D	RGD:9068941	20221110	RGD		protein:increased expression:skin:	PMID:30886104|REF_RGD_ID:155646129
8753307	Dll4	delta like canonical Notch ligand 4	gene	DOID:9351	diabetes mellitus	ameliorates	ISO	RGD:1320242	D	RGD:9068941	20221111	RGD			PMID:29386132|REF_RGD_ID:155663360
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1602124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1602124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:12849	autistic disorder		ISO	RGD:1602124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1602124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1602124	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:1827	generalized epilepsy		ISO	RGD:1602124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1602124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1602124	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25954003|PMID:27618451|PMID:27993330|PMID:28490743|PMID:28492532|PMID:28966033|PMID:29322246|PMID:29758562|PMID:29763623|PMID:31440728|PMID:31685013|PMID:34345025|PMID:35101336
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:9000804	Intellectual Developmental Disorder with Seizures and Language Delay		ISO	RGD:1602124	D	RGD:7240710	20200930	OMIM			
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:9000804	Intellectual Developmental Disorder with Seizures and Language Delay		ISO	RGD:1602124	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY | ClinVar Annotator: match by term: Intellectual developmental disorder with seizures and language delay | ClinVar Annotator: match by term: SETD1B-associated disorder | ClinVar Annotator: match by term: SETD1B-related condition | ClinVar Annotator: match by term: intellectual developmental disorder with seizures and language delay	PMID:25741868|PMID:28492532|PMID:29322246|PMID:31110234|PMID:31440728|PMID:31685013|PMID:32546566|PMID:34345025|PMID:35101336|PMID:38108116|PMID:38313655|PMID:39235528
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1602124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1602124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:9005077	Joint Instability		ISO	RGD:1602124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1602124	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myoclonic-astatic epilepsy	PMID:25741868
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1602124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1602124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1602124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1602124	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:9008617	Lethargy		ISO	RGD:1602124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:25741868
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8753328	Setd1b	SET domain containing 1B, histone lysine methyltransferase	gene	DOID:9256	colorectal cancer		ISO	RGD:1602124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8753367	Rab38	RAB38, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8753367	Rab38	RAB38, member RAS oncogene family	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8753367	Rab38	RAB38, member RAS oncogene family	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:628752	D	RGD:9068941	20200609	RGD			PMID:19897744|REF_RGD_ID:2324690
8753367	Rab38	RAB38, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753367	Rab38	RAB38, member RAS oncogene family	gene	DOID:576	proteinuria		ISO	RGD:628752	D	RGD:9068941	20200609	RGD			PMID:15758045|REF_RGD_ID:1357409
8753367	Rab38	RAB38, member RAS oncogene family	gene	DOID:6039	uveal melanoma		ISO	RGD:734295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8753367	Rab38	RAB38, member RAS oncogene family	gene	DOID:9001542	Albuminuria		ISO	RGD:628752	D	RGD:9068941	20200609	RGD			PMID:15758045|REF_RGD_ID:1357409
8753367	Rab38	RAB38, member RAS oncogene family	gene	DOID:9001542	Albuminuria		ISO	RGD:628752	D	RGD:9068941	20201211	RGD		compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi	PMID:23291471|REF_RGD_ID:13782139
8753374	Snx6	sorting nexin 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8753374	Snx6	sorting nexin 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753374	Snx6	sorting nexin 6	gene	DOID:10534	stomach cancer		ISO	RGD:1312208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8753374	Snx6	sorting nexin 6	gene	DOID:1115	sarcoma		ISO	RGD:1312208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8753374	Snx6	sorting nexin 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8753374	Snx6	sorting nexin 6	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8753374	Snx6	sorting nexin 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753374	Snx6	sorting nexin 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8753374	Snx6	sorting nexin 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8753390	Maf	MAF bZIP transcription factor	gene	DOID:0110256	cataract 21 multiple types		ISO	RGD:731331	D	RGD:7240710	20180130	OMIM			
8753390	Maf	MAF bZIP transcription factor	gene	DOID:0110256	cataract 21 multiple types		ISO	RGD:731331	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 21 multiple types	PMID:25064449|PMID:25741868|PMID:25865493|PMID:28492532|PMID:29758562|PMID:30659945
8753390	Maf	MAF bZIP transcription factor	gene	DOID:0111688	Ayme-Gripp syndrome		ISO	RGD:731331	D	RGD:7240710	20180130	OMIM			
8753390	Maf	MAF bZIP transcription factor	gene	DOID:0111688	Ayme-Gripp syndrome		ISO	RGD:731331	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ayme-Gripp syndrome | ClinVar Annotator: match by term: Ayme-gripp syndrome | ClinVar Annotator: match by term: Cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation | ClinVar Annotator: match by term: MAF-related condition	PMID:12620964|PMID:17982426|PMID:24968223|PMID:25064449|PMID:25741868|PMID:25865493|PMID:26694549|PMID:28482824|PMID:28492532|PMID:30160832|PMID:30659945|PMID:31600839|PMID:34014271|PMID:34101287|PMID:34217267|PMID:38177409
8753390	Maf	MAF bZIP transcription factor	gene	DOID:1852	intrahepatic cholestasis		ISO	RGD:731331	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20146260
8753390	Maf	MAF bZIP transcription factor	gene	DOID:1909	melanoma		ISO	RGD:731331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8753390	Maf	MAF bZIP transcription factor	gene	DOID:3275	thymoma		ISO	RGD:731331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8753390	Maf	MAF bZIP transcription factor	gene	DOID:4022	ureterocele		ISO	RGD:731331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ureterocele	
8753390	Maf	MAF bZIP transcription factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8753390	Maf	MAF bZIP transcription factor	gene	DOID:5041	esophageal cancer		ISO	RGD:731331	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8753390	Maf	MAF bZIP transcription factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8753390	Maf	MAF bZIP transcription factor	gene	DOID:630	genetic disease		ISO	RGD:731331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31600839
8753390	Maf	MAF bZIP transcription factor	gene	DOID:83	cataract		ISO	RGD:731331	D	RGD:9068941	20260521	RGD		DNA:missense mutation: :p.R288P (human)	PMID:11772997|REF_RGD_ID:1547889
8753390	Maf	MAF bZIP transcription factor	gene	DOID:83	cataract		ISO	RGD:731331	D	RGD:9068941	20260521	RGD		DNA:missense mutation:exon:p.Q303P (c.908A>C) (human)	PMID:24664492|REF_RGD_ID:13204738
8753390	Maf	MAF bZIP transcription factor	gene	DOID:83	cataract		ISO	RGD:735352	D	RGD:9068941	20260521	RGD		DNA:missense mutation: :p.D90V (mouse)	PMID:17374726|REF_RGD_ID:13204737
8753390	Maf	MAF bZIP transcription factor	gene	DOID:9003133	Hypertelorism		ISO	RGD:731331	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:25865493|PMID:28482824|PMID:30160832|PMID:31600839
8753390	Maf	MAF bZIP transcription factor	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:731331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	
8753390	Maf	MAF bZIP transcription factor	gene	DOID:9003799	Cataract Microcornea Syndrome		ISO	RGD:731331	D	RGD:9068941	20200609	RGD		DNA:missense mutations: :p.R299S (c.895C>A), p.K320E (c.958A>G) (human)	PMID:19182255|REF_RGD_ID:13204740
8753390	Maf	MAF bZIP transcription factor	gene	DOID:9005532	Muscle Weakness		ISO	RGD:731331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
8753390	Maf	MAF bZIP transcription factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
8753390	Maf	MAF bZIP transcription factor	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:731331	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30510241
8753390	Maf	MAF bZIP transcription factor	gene	DOID:9538	multiple myeloma		ISO	RGD:735352	D	RGD:9068941	20240425	MouseDO		OMIM:254500	
8753390	Maf	MAF bZIP transcription factor	gene	DOID:9650	pathologic nystagmus		ISO	RGD:731331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
8753427	Degs1	delta 4-desaturase, sphingolipid 1	gene	DOID:0070399	hypomyelinating leukodystrophy 18		ISO	RGD:1605117	D	RGD:7240710	20190515	OMIM			
8753427	Degs1	delta 4-desaturase, sphingolipid 1	gene	DOID:0070399	hypomyelinating leukodystrophy 18		ISO	RGD:1605117	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: DEGS1-related condition | ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 18 | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 18 | ClinVar Annotator: match by term: leukodystrophy, hypomyelinating, 18	PMID:25741868|PMID:28492532|PMID:30620337|PMID:30620338|PMID:31186544
8753427	Degs1	delta 4-desaturase, sphingolipid 1	gene	DOID:10579	leukodystrophy		ISO	RGD:1605117	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868|PMID:30620337|PMID:31186544
8753427	Degs1	delta 4-desaturase, sphingolipid 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753427	Degs1	delta 4-desaturase, sphingolipid 1	gene	DOID:630	genetic disease		ISO	RGD:1605117	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:30620337
8753427	Degs1	delta 4-desaturase, sphingolipid 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1605117	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8753427	Degs1	delta 4-desaturase, sphingolipid 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1345118	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression, increased activity:fibroblast	PMID:23260200|REF_RGD_ID:10413908
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25811541
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20561897
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17640816
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:0081292	traumatic brain injury		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15829224|PMID:28642177
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:0110721	neuronal ceroid lipofuscinosis 1		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21224254
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:1345118	D	RGD:9068941	20210611	RGD		human cells in a mouse model	PMID:29408335|REF_RGD_ID:127284846
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:1345118	D	RGD:9068941	20210625	RGD		human cells in mouse model	PMID:32106377|REF_RGD_ID:127284886
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1551988	D	RGD:9068941	20200609	RGD			PMID:22051244|REF_RGD_ID:5510011
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1551988	D	RGD:9068941	20200609	RGD		protein:increased activity:brain:	PMID:21616968|REF_RGD_ID:10413888
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:1345118	D	RGD:9068941	20200609	RGD		DNA:haplotypes: :	PMID:17290104|REF_RGD_ID:10413885
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:1345118	D	RGD:9068941	20200609	RGD		DNA:haplotypes:cds:rs1136410,rs1805404 (human)	PMID:20486200|REF_RGD_ID:10413887
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:1074	kidney failure		ISO	RGD:2053	D	RGD:9068941	20200609	RGD			PMID:19833176|REF_RGD_ID:10413912
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:10952	nephritis		ISO	RGD:1345118	D	RGD:9068941	20200609	RGD		associated with Lupus Erythematosus, Systemic;DNA:SNPs:promoter, exon:-1963A>G, 28077G>A (human)	PMID:16461442|REF_RGD_ID:1601085
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:1115	sarcoma		ISO	RGD:1345118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1551988	D	RGD:9068941	20200609	RGD			PMID:19741160|REF_RGD_ID:5683903
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:11396	pulmonary edema		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11818323
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:127	leiomyoma	treatment	ISO	RGD:2053	D	RGD:9068941	20200609	RGD			PMID:21896544|REF_RGD_ID:10413890
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:12858	Huntington's disease		ISO	RGD:1345118	D	RGD:9068941	20200609	RGD		protein:increased expression:neuron,astrocyte:	PMID:15668790|REF_RGD_ID:10413886
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1551988	D	RGD:9068941	20200609	RGD			PMID:21596035|REF_RGD_ID:5683904
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:1324	lung cancer		ISO	RGD:1345118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:14115	toxic shock syndrome		ISO	RGD:1551988	D	RGD:9068941	20200609	RGD			PMID:12445868|REF_RGD_ID:10414070
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:14330	Parkinson's disease	no_association	ISO	RGD:1345118	D	RGD:9068941	20200609	RGD		DNA:snps:multiple (human)	PMID:21767974|REF_RGD_ID:5510021
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:14330	Parkinson's disease	susceptibility	ISO	RGD:1345118	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:promoter, exon:g.-410C>T, g.845_846dupAC (human)	PMID:17362997|REF_RGD_ID:5510024
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1345118	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:21543585
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:1909	melanoma		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28759004
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:1936	atherosclerosis		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18093987|PMID:19124646
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:1936	atherosclerosis		ISO	RGD:1551988	D	RGD:9068941	20200609	RGD			PMID:18093987|REF_RGD_ID:5683916
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:2237	hepatitis		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20561897
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:2053	D	RGD:9068941	20200609	RGD			PMID:19840223|REF_RGD_ID:2325713
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:2053	D	RGD:9068941	20200609	RGD			PMID:19840223|REF_RGD_ID:2325713
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:2316	brain ischemia		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17640816
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:2355	anemia		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20561897
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:2723	dermatitis		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20561897
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:2841	asthma		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18261157
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:2841	asthma		ISO	RGD:1345118	D	RGD:9068941	20200609	RGD		protein:increased activation:lung, blood, mononuclear cell	PMID:26205779|REF_RGD_ID:11073727
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:2841	asthma		ISO	RGD:1551988	D	RGD:9068941	20200609	RGD			PMID:12594058|REF_RGD_ID:5683910
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:2841	asthma	treatment	ISO	RGD:1551988	D	RGD:9068941	20200609	RGD			PMID:26205779|REF_RGD_ID:11073727
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:2921	glomerulonephritis	severity	ISO	RGD:1551988	D	RGD:9068941	20200609	RGD			PMID:19454727|REF_RGD_ID:5684011
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:3021	acute kidney failure		ISO	RGD:1551988	D	RGD:9068941	20200609	RGD			PMID:21884784|REF_RGD_ID:5510015
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1551988	D	RGD:9068941	20200609	RGD			PMID:21311064|REF_RGD_ID:5683909
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:2053	D	RGD:9068941	20200609	RGD			PMID:25882840|REF_RGD_ID:13792686
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:1551988	D	RGD:9068941	20200609	RGD			PMID:23801245|REF_RGD_ID:11073732
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:2053	D	RGD:9068941	20200609	RGD			PMID:23143152|REF_RGD_ID:10054501
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27704718
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1551988	D	RGD:9068941	20200609	RGD			PMID:23260200|REF_RGD_ID:10413908
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:417	autoimmune disease		ISO	RGD:1345118	D	RGD:9068941	20200609	RGD		coeliac disease	PMID:16026592|REF_RGD_ID:1601087
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:4195	hyperglycemia	susceptibility	ISO	RGD:1551988	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:10077636|REF_RGD_ID:1300264
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:4455	hereditary renal cell carcinoma		ISO	RGD:1345118	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary renal cell carcinoma	
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:4667	kyphosis		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20561897
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:4989	pancreatitis		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16127429
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345118	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1345118	D	RGD:9068941	20200609	RGD		associated with Hepatitis B;mRNA:decreased expression:blood, mononuclear cell	PMID:25755481|REF_RGD_ID:11073733
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:5154	borna disease		ISO	RGD:2053	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression,increased activity:neuron, glial cell:	PMID:18057239|REF_RGD_ID:2316738
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:5199	ureteral obstruction	treatment	ISO	RGD:2053	D	RGD:9068941	20200609	RGD			PMID:29781318|REF_RGD_ID:13782341
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:5517	stomach carcinoma	susceptibility	ISO	RGD:1345118	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.V762A rs1136410 (human)	PMID:18716896|REF_RGD_ID:5683907
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:552	pneumonia		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20561897
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:557	kidney disease		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20561897|PMID:21884784
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:5844	myocardial infarction		ISO	RGD:1551988	D	RGD:9068941	20200609	RGD		protein:altered processing:left ventricle (mouse)	PMID:21282286|REF_RGD_ID:5684012
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:2053	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:19443425|REF_RGD_ID:11074236
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30354818
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:824	periodontitis		ISO	RGD:1551988	D	RGD:9068941	20200609	RGD			PMID:14630900|REF_RGD_ID:10413909
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:848	arthritis		ISO	RGD:1345118	D	RGD:9068941	20200609	RGD		associated with Lupus Erythematosus, Systemic;DNA:SNPs:promoter, exon:-1963A>G, p.V762A (40329T>C) (human)	PMID:16461442|REF_RGD_ID:1601085
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:1345118	D	RGD:9068941	20200609	RGD		protein:increased expression:intestinal mucosa	PMID:21399558|REF_RGD_ID:10413911
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:8677	perinatal necrotizing enterocolitis	severity	ISO	RGD:2053	D	RGD:9068941	20200609	RGD		protein:increased expression:intestinal mucosa	PMID:21399558|REF_RGD_ID:10413911
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15696051
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2053	D	RGD:9068941	20200609	RGD			PMID:21748659|REF_RGD_ID:10053608
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9000146	Plaque, Atherosclerotic		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18093987|PMID:19124646
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9000310	Lung Injury		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16127429
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9000784	Fibrosis		ISO	RGD:1551988	D	RGD:9068941	20200609	RGD		associated with Ureteral Obstruction	PMID:21613422|REF_RGD_ID:5683902
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9000927	Alveolar Bone Loss		ISO	RGD:1551988	D	RGD:9068941	20200609	RGD			PMID:14630900|REF_RGD_ID:10413909
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17640816
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1551988	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:20621183|REF_RGD_ID:11073737
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15342424
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9002457	Experimental Arthritis	severity	ISO	RGD:1551988	D	RGD:9068941	20200609	RGD			PMID:16356201|REF_RGD_ID:5684009
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9002514	Neointima		ISO	RGD:2053	D	RGD:9068941	20200609	RGD			PMID:15044192|REF_RGD_ID:10413907
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15696051|PMID:16798486
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1551988	D	RGD:9068941	20200609	RGD			PMID:9390645|REF_RGD_ID:5510018
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2053	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:21850691|REF_RGD_ID:5510020
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1551988	D	RGD:9068941	20200609	RGD		associated with Pancreatitis, Experimental, Acute	PMID:16127429|REF_RGD_ID:11075069
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9004922	Spinal Cord Ischemia		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15696051
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:2053	D	RGD:9068941	20200609	RGD			PMID:23404339|REF_RGD_ID:10053670
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9005246	Paralysis		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15696051
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9005372	Inflammation		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18261157
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1551988	D	RGD:9068941	20200609	RGD			PMID:18657544|REF_RGD_ID:2312287
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:2053	D	RGD:9068941	20200609	RGD		protein:increased expression:blood vessel:	PMID:15044192|REF_RGD_ID:10413907
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9006302	Binge Drinking		ISO	RGD:2053	D	RGD:9068941	20250320	RGD		protein:increased expression:entorhinal cortex	PMID:23102656|REF_RGD_ID:598092481
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9007558	Acute Experimental Pancreatitis		ISO	RGD:1551988	D	RGD:9068941	20200609	RGD			PMID:16127429|REF_RGD_ID:11075069
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1345118	D	RGD:9068941	20210604	CTD		CTD Direct Evidence: therapeutic	PMID:33771647
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1551988	D	RGD:9068941	20200609	RGD			PMID:23598272|PMID:9670921|REF_RGD_ID:11073735|REF_RGD_ID:5683917
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27694308
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9008550	Vitamin A Deficiency		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18676402
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20941507
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1551988	D	RGD:9068941	20200609	RGD			PMID:17182544|REF_RGD_ID:11074797
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:126734315	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor	PMID:28492532
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345118	D	RGD:9068941	20200609	RGD			PMID:15895395|REF_RGD_ID:11075068
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9470	bacterial meningitis	susceptibility	ISO	RGD:1345118	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.V762A rs1136410 (human)	PMID:21651918|REF_RGD_ID:5683901
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9538	multiple myeloma		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21917757
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9743	diabetic neuropathy		ISO	RGD:1551988	D	RGD:9068941	20200609	RGD			PMID:17976390|PMID:21978940|REF_RGD_ID:5510012|REF_RGD_ID:5683915
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:987	alopecia		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20561897
8753441	Parp1	poly(ADP-ribose) polymerase 1	gene	DOID:9970	obesity		ISO	RGD:1345118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20561897
8753468	Foxo3	forkhead box O3	gene	DOID:0050902	medulloblastoma		ISO	RGD:1319403	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA	
8753468	Foxo3	forkhead box O3	gene	DOID:0080147	lymphoblastic lymphoma		ISO	RGD:1553155	D	RGD:9068941	20221027	RGD			PMID:17254969|REF_RGD_ID:155630604
8753468	Foxo3	forkhead box O3	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1319403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
8753468	Foxo3	forkhead box O3	gene	DOID:10283	prostate cancer		ISO	RGD:1319403	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:tumor:lower in tumor vs adjacent normal tissue (p<0.05 compared to at least one housekeeping gene)	PMID:18336616|REF_RGD_ID:2301729
8753468	Foxo3	forkhead box O3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1319403	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain:	PMID:23585551|REF_RGD_ID:7327146
8753468	Foxo3	forkhead box O3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1319403	D	RGD:9068941	20200609	RGD		protein:increased expression:lymphoblast,nucleus:	PMID:23153928|REF_RGD_ID:10402185
8753468	Foxo3	forkhead box O3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1553155	D	RGD:9068941	20200609	RGD		protein:altered expression:cortical neuron,nucleus:	PMID:23661003|REF_RGD_ID:10402187
8753468	Foxo3	forkhead box O3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1553155	D	RGD:9068941	20211126	RGD		protein:increased expression:hippocampal neuron (mouse)	PMID:28157684|REF_RGD_ID:11061905
8753468	Foxo3	forkhead box O3	gene	DOID:1824	status epilepticus		ISO	RGD:1553155	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus,mitochondrion:	PMID:23278239|REF_RGD_ID:10402198
8753468	Foxo3	forkhead box O3	gene	DOID:255	hemangioma		ISO	RGD:1553155	D	RGD:9068941	20221027	RGD			PMID:17254969|REF_RGD_ID:155630604
8753468	Foxo3	forkhead box O3	gene	DOID:2870	endometrial adenocarcinoma	severity	ISO	RGD:1319403	D	RGD:9068941	20200609	RGD		associated with Obesity;protein:decreased expression:endometrium (human)	PMID:26045339|REF_RGD_ID:11530998
8753468	Foxo3	forkhead box O3	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1319403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23099361
8753468	Foxo3	forkhead box O3	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:1319403	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus,mitochondrion:	PMID:23278239|REF_RGD_ID:10402198
8753468	Foxo3	forkhead box O3	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1319403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19380174
8753468	Foxo3	forkhead box O3	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1319403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19380174
8753468	Foxo3	forkhead box O3	gene	DOID:5082	liver cirrhosis		ISO	RGD:1319403	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:33372984
8753468	Foxo3	forkhead box O3	gene	DOID:5117	dermoid cyst of ovary		ISO	RGD:1553155	D	RGD:9068941	20220825	MouseDO		OMIM:166950	
8753468	Foxo3	forkhead box O3	gene	DOID:5648	choroid plexus carcinoma		ISO	RGD:1319403	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHOROID PLEXUS CARCINOMA	
8753468	Foxo3	forkhead box O3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753468	Foxo3	forkhead box O3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1319403	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:peripheral blood mononuclear cell, polymorphonuclear cell,synovium:	PMID:19435720|REF_RGD_ID:10402186
8753468	Foxo3	forkhead box O3	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1309196	D	RGD:9068941	20200609	RGD		protein:decreased expression:spinal cord,neuron, astrocyte:	PMID:22930444|REF_RGD_ID:10402202
8753468	Foxo3	forkhead box O3	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1319403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27742544
8753468	Foxo3	forkhead box O3	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:1309196	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex,nucleus:	PMID:24229603|REF_RGD_ID:10402203
8753468	Foxo3	forkhead box O3	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1309196	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;protein:decreased phosphorylation:heart:	PMID:18192848|REF_RGD_ID:2293330
8753468	Foxo3	forkhead box O3	gene	DOID:9004994	Embryo Loss		ISO	RGD:1319403	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35038060
8753468	Foxo3	forkhead box O3	gene	DOID:9005396	Intimal Hyperplasia		ISO	RGD:1319403	D	RGD:9068941	20200609	RGD			PMID:15662024|REF_RGD_ID:10402197
8753468	Foxo3	forkhead box O3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1309196	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver:	PMID:12683947|REF_RGD_ID:10402199
8753468	Foxo3	forkhead box O3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1309196	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation, increased expression:glomerulus, cytoplasm:	PMID:17082237|REF_RGD_ID:10402196
8753468	Foxo3	forkhead box O3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1319403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23090186|PMID:23792339
8753468	Foxo3	forkhead box O3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1553155	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation, increased expression:glomerulus, cytoplasm:	PMID:17082237|REF_RGD_ID:10402196
8753468	Foxo3	forkhead box O3	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:1309196	D	RGD:9068941	20200609	RGD			PMID:15662024|REF_RGD_ID:10402197
8753468	Foxo3	forkhead box O3	gene	DOID:9007479	Habitual Abortions		ISO	RGD:1319403	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35038060
8753468	Foxo3	forkhead box O3	gene	DOID:9970	obesity		ISO	RGD:1309196	D	RGD:9068941	20200609	RGD		protein:increased expression:myocardium:	PMID:16467659|REF_RGD_ID:10402201
8753468	Foxo3	forkhead box O3	gene	DOID:9970	obesity		ISO	RGD:1319403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23954404
8753486	Cdca8	cell division cycle associated 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8753486	Cdca8	cell division cycle associated 8	gene	DOID:0080600	COVID-19		ISO	RGD:1346860	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8753486	Cdca8	cell division cycle associated 8	gene	DOID:10534	stomach cancer		ISO	RGD:1346860	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8753486	Cdca8	cell division cycle associated 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8753486	Cdca8	cell division cycle associated 8	gene	DOID:1115	sarcoma		ISO	RGD:1346860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8753486	Cdca8	cell division cycle associated 8	gene	DOID:1909	melanoma		ISO	RGD:1346860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8753486	Cdca8	cell division cycle associated 8	gene	DOID:3275	thymoma		ISO	RGD:1346860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8753486	Cdca8	cell division cycle associated 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8753486	Cdca8	cell division cycle associated 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753486	Cdca8	cell division cycle associated 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8753486	Cdca8	cell division cycle associated 8	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1346860	D	RGD:9068941	20220901	RGD		mRNA:increased expression:liver (human)	PMID:35693827|REF_RGD_ID:153344586
8753486	Cdca8	cell division cycle associated 8	gene	DOID:9003566	Mesothelioma		ISO	RGD:1346860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8753486	Cdca8	cell division cycle associated 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753486	Cdca8	cell division cycle associated 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:0050453	lissencephaly		ISO	RGD:1313480	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exonp.G726R (c.2176G>A) (human)	PMID:17559086|REF_RGD_ID:11065022
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1313480	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy	
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1313480	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pagon syndrome	PMID:25741868|PMID:28492532
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1313480	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:15894594|PMID:16199547|PMID:17559086|PMID:18414213|PMID:18752264|PMID:24183756|PMID:25741868|PMID:26495167|PMID:26950094|PMID:27457812|PMID:28492532|PMID:33200426
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N		ISO	RGD:1313480	D	RGD:7240710	20180130	OMIM			
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N		ISO	RGD:1313480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2N | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2	PMID:15894594|PMID:16199547|PMID:16701995|PMID:17559086|PMID:17576681|PMID:17634419|PMID:17869517|PMID:17878207|PMID:17878297|PMID:17923109|PMID:18414213|PMID:18513969|PMID:18752264|PMID:19138766|PMID:19299310|PMID:22323514|PMID:22700954|PMID:22958903|PMID:24002165|PMID:24033266|PMID:25214167|PMID:25741868|PMID:26467025|PMID:26495167|PMID:26950094|PMID:27447704|PMID:27457812|PMID:27854218|PMID:27894351|PMID:28492532|PMID:28980384|PMID:29175898|PMID:29759639|PMID:30060766|PMID:30827497|PMID:32140910|PMID:32528171|PMID:33176815|PMID:33200426|PMID:34413876|PMID:35628876|PMID:36797079|PMID:37273706|PMID:37526466|PMID:9536098
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:0110873	holoprosencephaly 9		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar cyst	PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1		ISO	RGD:1313480	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	PMID:17559086|PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	PMID:25741868|PMID:28492532
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2		ISO	RGD:1313480	D	RGD:7240710	20180130	OMIM			
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2		ISO	RGD:1313480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED	PMID:15894594|PMID:16199547|PMID:16701995|PMID:17559086|PMID:17576681|PMID:17634419|PMID:17869517|PMID:17878207|PMID:17878297|PMID:18414213|PMID:18513969|PMID:18752264|PMID:19138766|PMID:19299310|PMID:22323514|PMID:22700954|PMID:24002165|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26495167|PMID:26950094|PMID:27457812|PMID:27854218|PMID:28492532|PMID:29175898|PMID:29759639|PMID:30827497|PMID:33200426|PMID:34413876|PMID:9536098
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:0112380	muscular dystrophy-dystroglycanopathy type B2		ISO	RGD:1313480	D	RGD:7240710	20180130	OMIM			
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:0112380	muscular dystrophy-dystroglycanopathy type B2		ISO	RGD:1313480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED	PMID:15894594|PMID:16199547|PMID:17559086|PMID:17576681|PMID:18414213|PMID:18513969|PMID:18752264|PMID:19299310|PMID:22323514|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26495167|PMID:26950094|PMID:27457812|PMID:28492532|PMID:29175898|PMID:33200426|PMID:9536098
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:10908	hydrocephalus		ISO	RGD:1313480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aqueductal stenosis	PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:11830	myopia		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:1313480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:14784	olivopontocerebellar atrophy		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia	PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:1596	depressive disorder		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25741868
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:1909	melanoma		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:2340	craniosynostosis		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:2841	asthma		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:3459	breast carcinoma		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:15894594|PMID:25741868|PMID:28492532
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:630	genetic disease		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15894594|PMID:25741868|PMID:28492532
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:28492532
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:28492532
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:9007736	Vertigo		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1313480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:9884	muscular dystrophy		ISO	RGD:1313480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:15894594|PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:27854218|PMID:28492532
8753509	Pomt2	protein O-mannosyltransferase 2	gene	DOID:9970	obesity		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
8753538	Znf541	zinc finger protein 541	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753538	Znf541	zinc finger protein 541	gene	DOID:1324	lung cancer		ISO	RGD:1321846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8753538	Znf541	zinc finger protein 541	gene	DOID:4362	cervical cancer		ISO	RGD:1321846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8753538	Znf541	zinc finger protein 541	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753538	Znf541	zinc finger protein 541	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8753565	Rplp1	ribosomal protein lateral stalk subunit P1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753565	Rplp1	ribosomal protein lateral stalk subunit P1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8753565	Rplp1	ribosomal protein lateral stalk subunit P1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753575	Tmem184b	transmembrane protein 184B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753575	Tmem184b	transmembrane protein 184B	gene	DOID:1059	intellectual disability		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868|PMID:40885185
8753575	Tmem184b	transmembrane protein 184B	gene	DOID:10907	microcephaly		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:40885185
8753575	Tmem184b	transmembrane protein 184B	gene	DOID:12849	autistic disorder		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:40885185
8753575	Tmem184b	transmembrane protein 184B	gene	DOID:1909	melanoma		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8753575	Tmem184b	transmembrane protein 184B	gene	DOID:3275	thymoma		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8753575	Tmem184b	transmembrane protein 184B	gene	DOID:4362	cervical cancer		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8753575	Tmem184b	transmembrane protein 184B	gene	DOID:440	neuromuscular disease		ISO	RGD:1315295	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
8753575	Tmem184b	transmembrane protein 184B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753575	Tmem184b	transmembrane protein 184B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8753575	Tmem184b	transmembrane protein 184B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8753575	Tmem184b	transmembrane protein 184B	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315295	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8753575	Tmem184b	transmembrane protein 184B	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8753575	Tmem184b	transmembrane protein 184B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:40885185
8753575	Tmem184b	transmembrane protein 184B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753575	Tmem184b	transmembrane protein 184B	gene	DOID:9007661	Dwarfism		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:40885185
8753575	Tmem184b	transmembrane protein 184B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8753593	Atp6v1d	ATPase H+ transporting V1 subunit D	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348353	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8753593	Atp6v1d	ATPase H+ transporting V1 subunit D	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1348353	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8753609	Ca14	carbonic anhydrase 14	gene	DOID:1324	lung cancer		ISO	RGD:1317436	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8753609	Ca14	carbonic anhydrase 14	gene	DOID:1909	melanoma		ISO	RGD:1317436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8753609	Ca14	carbonic anhydrase 14	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8753609	Ca14	carbonic anhydrase 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317436	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8753609	Ca14	carbonic anhydrase 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753609	Ca14	carbonic anhydrase 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8753609	Ca14	carbonic anhydrase 14	gene	DOID:9003921	Zinc Deficiency		ISO	RGD:1599277	D	RGD:9068941	20241123	RGD			PMID:24634117|REF_RGD_ID:408427354
8753609	Ca14	carbonic anhydrase 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753609	Ca14	carbonic anhydrase 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8753609	Ca14	carbonic anhydrase 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317436	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8753630	Taf11	TATA-box binding protein associated factor 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8753630	Taf11	TATA-box binding protein associated factor 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8753630	Taf11	TATA-box binding protein associated factor 11	gene	DOID:1909	melanoma		ISO	RGD:1313766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8753630	Taf11	TATA-box binding protein associated factor 11	gene	DOID:4362	cervical cancer		ISO	RGD:1313766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8753630	Taf11	TATA-box binding protein associated factor 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1313766	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8753630	Taf11	TATA-box binding protein associated factor 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753630	Taf11	TATA-box binding protein associated factor 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753630	Taf11	TATA-box binding protein associated factor 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:0061075	immunodeficiency 106		ISO	RGD:1313408	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IFNAR1 DEFICIENCY | ClinVar Annotator: match by term: IFNAR1-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 106, SUSCEPTIBILITY TO VIRAL INFECTIONS | ClinVar Annotator: match by term: Immunodeficiency 106, susceptibility to viral infections | ClinVar Annotator: match by term: immunodeficiency 106, susceptibility to viral infections	PMID:16199547|PMID:25741868|PMID:28492532|PMID:31270247|PMID:32960813
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:0061075	immunodeficiency 106	susceptibility	ISO	RGD:1313408	D	RGD:7240710	20220720	OMIM			
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:0080600	COVID-19		ISO	RGD:1313408	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:10533	viral pneumonia	disease_progression	ISO	RGD:1313409	D	RGD:9068941	20200609	RGD			PMID:21383977|REF_RGD_ID:5490272
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:12155	lymphocytic choriomeningitis		ISO	RGD:732185	D	RGD:9068941	20210326	RGD			PMID:24760883|REF_RGD_ID:124715479
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:12155	lymphocytic choriomeningitis	disease_progression	ISO	RGD:1313409	D	RGD:9068941	20210326	RGD		DNA:mutation: :	PMID:28878077|REF_RGD_ID:124715467
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:1883	hepatitis C	resistance	ISO	RGD:1313408	D	RGD:9068941	20200609	RGD			PMID:21756311|REF_RGD_ID:5147491
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:3070	high grade glioma		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313408	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:552	pneumonia	resistance	ISO	RGD:1313409	D	RGD:9068941	20200609	RGD		Cryptococcus (yeast) pneumonia	PMID:18566423|REF_RGD_ID:5490275
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:8704	genital herpes	exacerbates	ISO	RGD:1313409	D	RGD:9068941	20210402	RGD			PMID:28264883|REF_RGD_ID:125093738
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:874	bacterial pneumonia	severity	ISO	RGD:1313409	D	RGD:9068941	20200609	RGD			PMID:19487810|REF_RGD_ID:5490274
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:9001049	Staphylococcal Pneumonia	susceptibility	ISO	RGD:1313409	D	RGD:9068941	20200609	RGD			PMID:19603548|REF_RGD_ID:5490273
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:9004531	Cardiovirus Infections		ISO	RGD:1305399	D	RGD:9068941	20201211	RGD			PMID:27999109|REF_RGD_ID:12910492
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:9004531	Cardiovirus Infections	susceptibility	ISO	RGD:1305399	D	RGD:9068941	20200609	RGD			PMID:27999109|REF_RGD_ID:12910492
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1305399	D	RGD:9068941	20200609	RGD			PMID:27999109|REF_RGD_ID:12910492
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8753643	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:934	viral infectious disease		ISO	RGD:1313408	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18722370
8753689	Cidec	cell death inducing DFFA like effector c	gene	DOID:0050440	familial partial lipodystrophy		ISO	RGD:1354006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8753689	Cidec	cell death inducing DFFA like effector c	gene	DOID:0070203	familial partial lipodystrophy type 5		ISO	RGD:1354006	D	RGD:7240710	20180130	OMIM			
8753689	Cidec	cell death inducing DFFA like effector c	gene	DOID:0070203	familial partial lipodystrophy type 5		ISO	RGD:1354006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CIDEC-related condition	PMID:25741868|PMID:28492532
8753689	Cidec	cell death inducing DFFA like effector c	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8753689	Cidec	cell death inducing DFFA like effector c	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1354006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
8753689	Cidec	cell death inducing DFFA like effector c	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753696	Abhd10	abhydrolase domain containing 10, depalmitoylase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346003	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753696	Abhd10	abhydrolase domain containing 10, depalmitoylase	gene	DOID:10534	stomach cancer		ISO	RGD:1346003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8753696	Abhd10	abhydrolase domain containing 10, depalmitoylase	gene	DOID:1115	sarcoma		ISO	RGD:1346003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8753696	Abhd10	abhydrolase domain containing 10, depalmitoylase	gene	DOID:5041	esophageal cancer		ISO	RGD:1346003	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8753696	Abhd10	abhydrolase domain containing 10, depalmitoylase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1346003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8753696	Abhd10	abhydrolase domain containing 10, depalmitoylase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753696	Abhd10	abhydrolase domain containing 10, depalmitoylase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8753696	Abhd10	abhydrolase domain containing 10, depalmitoylase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8753713	Syce1	synaptonemal complex central element protein 1	gene	DOID:0070172	spermatogenic failure 15		ISO	RGD:1352832	D	RGD:7240710	20190315	OMIM			
8753713	Syce1	synaptonemal complex central element protein 1	gene	DOID:0070172	spermatogenic failure 15		ISO	RGD:1352832	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 15	
8753713	Syce1	synaptonemal complex central element protein 1	gene	DOID:0080869	primary ovarian insufficiency 12		ISO	RGD:1352832	D	RGD:7240710	20190315	OMIM			
8753713	Syce1	synaptonemal complex central element protein 1	gene	DOID:0080869	primary ovarian insufficiency 12		ISO	RGD:1352832	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 12	PMID:25741868
8753713	Syce1	synaptonemal complex central element protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8753713	Syce1	synaptonemal complex central element protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1352832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8753713	Syce1	synaptonemal complex central element protein 1	gene	DOID:1909	melanoma		ISO	RGD:1352832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8753713	Syce1	synaptonemal complex central element protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8753713	Syce1	synaptonemal complex central element protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753734	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753734	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:10534	stomach cancer		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8753734	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8753734	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:1115	sarcoma		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8753734	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:1324	lung cancer		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8753734	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:1909	melanoma		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8753734	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8753734	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:4362	cervical cancer		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8753734	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1313426	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8753734	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8753734	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753734	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8753734	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8753734	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753734	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8753734	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8753767	Fabp7	fatty acid binding protein 7	gene	DOID:1826	epilepsy		ISO	RGD:1353760	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Epilepsy	
8753767	Fabp7	fatty acid binding protein 7	gene	DOID:3068	glioblastoma	severity	ISO	RGD:1353760	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain (human)	PMID:15827123|REF_RGD_ID:1578468
8753767	Fabp7	fatty acid binding protein 7	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1353760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980|PMID:25380136
8753767	Fabp7	fatty acid binding protein 7	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1353760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22322885
8753777	Gorasp1	golgi reassembly stacking protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348402	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753777	Gorasp1	golgi reassembly stacking protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8753777	Gorasp1	golgi reassembly stacking protein 1	gene	DOID:1909	melanoma		ISO	RGD:1348402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8753777	Gorasp1	golgi reassembly stacking protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8753777	Gorasp1	golgi reassembly stacking protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8753777	Gorasp1	golgi reassembly stacking protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753777	Gorasp1	golgi reassembly stacking protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8753777	Gorasp1	golgi reassembly stacking protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8753777	Gorasp1	golgi reassembly stacking protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753777	Gorasp1	golgi reassembly stacking protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8753807	Wee1	WEE1 G2 checkpoint kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753807	Wee1	WEE1 G2 checkpoint kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8753807	Wee1	WEE1 G2 checkpoint kinase	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1317355	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:34664776
8753807	Wee1	WEE1 G2 checkpoint kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1317355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8753807	Wee1	WEE1 G2 checkpoint kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317355	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25125259
8753807	Wee1	WEE1 G2 checkpoint kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753840	Cope	coat protein complex I subunit epsilon	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8753840	Cope	coat protein complex I subunit epsilon	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8753840	Cope	coat protein complex I subunit epsilon	gene	DOID:4362	cervical cancer		ISO	RGD:1315598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8753840	Cope	coat protein complex I subunit epsilon	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8753840	Cope	coat protein complex I subunit epsilon	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8753840	Cope	coat protein complex I subunit epsilon	gene	DOID:5041	esophageal cancer		ISO	RGD:1315598	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8753840	Cope	coat protein complex I subunit epsilon	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753840	Cope	coat protein complex I subunit epsilon	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753840	Cope	coat protein complex I subunit epsilon	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8753860	Acyp2	acylphosphatase 2	gene	DOID:0060645	chronic recurrent multifocal osteomyelitis		ISO	RGD:1350765	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chronic osteomyelitis	
8753860	Acyp2	acylphosphatase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8753860	Acyp2	acylphosphatase 2	gene	DOID:1115	sarcoma		ISO	RGD:1350765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8753860	Acyp2	acylphosphatase 2	gene	DOID:1324	lung cancer		ISO	RGD:1350765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8753860	Acyp2	acylphosphatase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350765	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8753866	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:1324	lung cancer		ISO	RGD:1604576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8753866	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:1612	breast cancer		ISO	RGD:1604576	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Hereditary breast cancer, ABRAXAS1-related	PMID:25741868|PMID:28492532
8753866	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:3459	breast carcinoma		ISO	RGD:1604576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25503501|PMID:28492532
8753866	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1604576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532|PMID:32566746
8753866	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1604576	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532
8753866	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753866	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753866	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604576	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:24240112|PMID:25741868|PMID:26556299|PMID:26845104|PMID:27270457|PMID:28166811|PMID:28492532|PMID:31159747|PMID:31361614|PMID:31980526
8753866	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604576	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17525340|PMID:17643121|PMID:22357538|PMID:24240112|PMID:25503501|PMID:25741868|PMID:26556299|PMID:26845104|PMID:27270457|PMID:28492532|PMID:31000350|PMID:31159747|PMID:31361614|PMID:31630195|PMID:31980526|PMID:32566746|PMID:32658311|PMID:33471991|PMID:34117267
8753866	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604576	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17525340|PMID:17643121|PMID:22357538|PMID:24240112|PMID:25503501|PMID:25741868|PMID:26556299|PMID:26845104|PMID:27270457|PMID:28492532|PMID:31000350|PMID:31159747|PMID:31248605|PMID:31361614|PMID:31630195|PMID:31980526|PMID:32566746|PMID:32658311|PMID:33471991|PMID:34117267
8753866	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604576	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17525340|PMID:17643121|PMID:24240112|PMID:25741868|PMID:26556299|PMID:26845104|PMID:27270457|PMID:28492532|PMID:31159747|PMID:31248605|PMID:31361614|PMID:31980526|PMID:33471991|PMID:34117267
8753866	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604576	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17525340|PMID:17643121|PMID:24240112|PMID:25741868|PMID:26556299|PMID:26845104|PMID:27270457|PMID:28492532|PMID:31159747|PMID:31361614|PMID:31980526|PMID:33471991
8753866	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8753880	Add2	adducin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753880	Add2	adducin 2	gene	DOID:0110916	hereditary spherocytosis type 1		ISO	RGD:10087	D	RGD:9068941	20220825	MouseDO		OMIM:182900	
8753880	Add2	adducin 2	gene	DOID:10534	stomach cancer		ISO	RGD:736575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8753880	Add2	adducin 2	gene	DOID:10763	hypertension		ISO	RGD:2042	D	RGD:9068941	20200609	RGD			PMID:2059221|REF_RGD_ID:631712
8753880	Add2	adducin 2	gene	DOID:10763	hypertension		ISO	RGD:736575	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs4852706 (human)	PMID:24652215|REF_RGD_ID:10047131
8753880	Add2	adducin 2	gene	DOID:10763	hypertension	no_association	ISO	RGD:736575	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:16497648|REF_RGD_ID:1625293
8753880	Add2	adducin 2	gene	DOID:1909	melanoma		ISO	RGD:736575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8753880	Add2	adducin 2	gene	DOID:2986	IgA glomerulonephritis	disease_progression	ISO	RGD:736575	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds: rs4984(human)	PMID:19838659|REF_RGD_ID:7174725
8753880	Add2	adducin 2	gene	DOID:3275	thymoma		ISO	RGD:736575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8753880	Add2	adducin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:736575	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8753880	Add2	adducin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753880	Add2	adducin 2	gene	DOID:576	proteinuria		ISO	RGD:10087	D	RGD:9068941	20200609	RGD			PMID:19838659|REF_RGD_ID:7174725
8753907	Cpne8	copine 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753907	Cpne8	copine 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8753907	Cpne8	copine 8	gene	DOID:1324	lung cancer		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8753907	Cpne8	copine 8	gene	DOID:3275	thymoma		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8753907	Cpne8	copine 8	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8753907	Cpne8	copine 8	gene	DOID:4362	cervical cancer		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8753907	Cpne8	copine 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1317425	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8753907	Cpne8	copine 8	gene	DOID:6039	uveal melanoma		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8753907	Cpne8	copine 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753907	Cpne8	copine 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8753907	Cpne8	copine 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8753907	Cpne8	copine 8	gene	DOID:9256	colorectal cancer		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8753937	Cdip1	cell death inducing p53 target 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8753937	Cdip1	cell death inducing p53 target 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321732	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753937	Cdip1	cell death inducing p53 target 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8753937	Cdip1	cell death inducing p53 target 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753937	Cdip1	cell death inducing p53 target 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8753956	Cers3	ceramide synthase 3	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1319080	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Lamellar ichthyosis	PMID:28875980|PMID:30578701|PMID:33492757
8753956	Cers3	ceramide synthase 3	gene	DOID:0060718	autosomal recessive congenital ichthyosis 9		ISO	RGD:1319080	D	RGD:7240710	20180130	OMIM			
8753956	Cers3	ceramide synthase 3	gene	DOID:0060718	autosomal recessive congenital ichthyosis 9		ISO	RGD:1319080	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 9 | ClinVar Annotator: match by term: CERS3-related condition | ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 | ClinVar Annotator: match by term: autosomal recessive congenital ichthyosis 9	PMID:25741868|PMID:28492532
8753956	Cers3	ceramide synthase 3	gene	DOID:10283	prostate cancer		ISO	RGD:1319080	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8753956	Cers3	ceramide synthase 3	gene	DOID:10283	prostate cancer		ISO	RGD:1319080	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8753956	Cers3	ceramide synthase 3	gene	DOID:1115	sarcoma		ISO	RGD:1319080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8753956	Cers3	ceramide synthase 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8753956	Cers3	ceramide synthase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753956	Cers3	ceramide synthase 3	gene	DOID:630	genetic disease		ISO	RGD:1319080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8753974	Dld	dihydrolipoamide dehydrogenase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
8753974	Dld	dihydrolipoamide dehydrogenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8753974	Dld	dihydrolipoamide dehydrogenase	gene	DOID:0061204	dihydrolipoamide dehydrogenase deficiency		ISO	RGD:1348290	D	RGD:7240710	20180130	OMIM			
8753974	Dld	dihydrolipoamide dehydrogenase	gene	DOID:0061204	dihydrolipoamide dehydrogenase deficiency		ISO	RGD:1348290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY | ClinVar Annotator: match by term: DLD-related disorder | ClinVar Annotator: match by term: Dihydrolipoamide dehydrogenase deficiency | ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to | ClinVar Annotator: match by term: Maple syrup urine disease type 3	PMID:10448086|PMID:11186938|PMID:11687750|PMID:12925875|PMID:14765544|PMID:15712224|PMID:16199547|PMID:16601893|PMID:16770810|PMID:17125710|PMID:17404228|PMID:17576681|PMID:20672374|PMID:21558426|PMID:21930696|PMID:21996136|PMID:23290025|PMID:23478190|PMID:23995961|PMID:24516753|PMID:25251739|PMID:25356417|PMID:25741868|PMID:27544700|PMID:27896107|PMID:28492532|PMID:31334547|PMID:31683770|PMID:33092611|PMID:33306821|PMID:34426522|PMID:34684524|PMID:37446004|PMID:8506365|PMID:8894701|PMID:8968745|PMID:9298831|PMID:9536098|PMID:9540846|PMID:9764998|PMID:9934985
8753974	Dld	dihydrolipoamide dehydrogenase	gene	DOID:10534	stomach cancer		ISO	RGD:1348290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8753974	Dld	dihydrolipoamide dehydrogenase	gene	DOID:1115	sarcoma		ISO	RGD:1348290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8753974	Dld	dihydrolipoamide dehydrogenase	gene	DOID:1909	melanoma		ISO	RGD:1348290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
8753974	Dld	dihydrolipoamide dehydrogenase	gene	DOID:2394	ovarian cancer		ISO	RGD:1348290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8753974	Dld	dihydrolipoamide dehydrogenase	gene	DOID:3070	high grade glioma		ISO	RGD:1348290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8753974	Dld	dihydrolipoamide dehydrogenase	gene	DOID:3275	thymoma		ISO	RGD:1348290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8753974	Dld	dihydrolipoamide dehydrogenase	gene	DOID:3649	pyruvate decarboxylase deficiency		ISO	RGD:1348290	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase deficiency	PMID:25741868|PMID:28492532
8753974	Dld	dihydrolipoamide dehydrogenase	gene	DOID:3652	Leigh disease		ISO	RGD:1348290	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy	PMID:25741868|PMID:28492532
8753974	Dld	dihydrolipoamide dehydrogenase	gene	DOID:4362	cervical cancer		ISO	RGD:1348290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8753974	Dld	dihydrolipoamide dehydrogenase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8753974	Dld	dihydrolipoamide dehydrogenase	gene	DOID:5041	esophageal cancer		ISO	RGD:1348290	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8753974	Dld	dihydrolipoamide dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8753974	Dld	dihydrolipoamide dehydrogenase	gene	DOID:6039	uveal melanoma		ISO	RGD:1348290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868
8753974	Dld	dihydrolipoamide dehydrogenase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8753974	Dld	dihydrolipoamide dehydrogenase	gene	DOID:630	genetic disease		ISO	RGD:1348290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8753974	Dld	dihydrolipoamide dehydrogenase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1348290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
8753974	Dld	dihydrolipoamide dehydrogenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8753974	Dld	dihydrolipoamide dehydrogenase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8753995	Rpp40	ribonuclease P/MRP subunit p40	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8753995	Rpp40	ribonuclease P/MRP subunit p40	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8753995	Rpp40	ribonuclease P/MRP subunit p40	gene	DOID:1115	sarcoma		ISO	RGD:1321008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8753995	Rpp40	ribonuclease P/MRP subunit p40	gene	DOID:4362	cervical cancer		ISO	RGD:1321008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8753995	Rpp40	ribonuclease P/MRP subunit p40	gene	DOID:5041	esophageal cancer		ISO	RGD:1321008	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8753995	Rpp40	ribonuclease P/MRP subunit p40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8753995	Rpp40	ribonuclease P/MRP subunit p40	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8754010	Cnot4	CCR4-NOT transcription complex subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754010	Cnot4	CCR4-NOT transcription complex subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1321153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8754010	Cnot4	CCR4-NOT transcription complex subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1321153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8754010	Cnot4	CCR4-NOT transcription complex subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1321153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8754010	Cnot4	CCR4-NOT transcription complex subunit 4	gene	DOID:1909	melanoma		ISO	RGD:1321153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8754010	Cnot4	CCR4-NOT transcription complex subunit 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8754010	Cnot4	CCR4-NOT transcription complex subunit 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1321153	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8754010	Cnot4	CCR4-NOT transcription complex subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754010	Cnot4	CCR4-NOT transcription complex subunit 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8754010	Cnot4	CCR4-NOT transcription complex subunit 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Prostate Cancer	
8754010	Cnot4	CCR4-NOT transcription complex subunit 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8754045	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif 14	gene	DOID:0050784	primary progressive multiple sclerosis		ISO	RGD:1318933	D	RGD:9068941	20200609	RGD		DNA:SNPs:intron: A>G, C>G (human)	PMID:15913795|REF_RGD_ID:6771190
8754045	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754045	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif 14	gene	DOID:0060058	lymphoma		ISO	RGD:1318933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8754045	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif 14	gene	DOID:0111406	Fraser syndrome 3		ISO	RGD:1318933	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fraser syndrome 3	
8754045	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif 14	gene	DOID:10534	stomach cancer		ISO	RGD:1318933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8754045	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif 14	gene	DOID:1115	sarcoma		ISO	RGD:1318933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8754045	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif 14	gene	DOID:2378	relapsing-remitting multiple sclerosis		ISO	RGD:1318933	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: C>T (human)	PMID:15913795|REF_RGD_ID:6771190
8754045	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif 14	gene	DOID:3275	thymoma		ISO	RGD:1318933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8754045	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif 14	gene	DOID:4362	cervical cancer		ISO	RGD:1318933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8754045	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754045	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif 14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8754045	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif 14	gene	DOID:8398	osteoarthritis		ISO	RGD:1318933	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds: (rs4747096) (human)	PMID:18790654|REF_RGD_ID:6771189
8754045	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754045	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8754077	Myrf	myelin regulatory factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754077	Myrf	myelin regulatory factor	gene	DOID:0080634	nanophthalmos		ISO	RGD:1315345	D	RGD:9068941	20230323	RGD		DNA:mutations:cds:	PMID:31048900|REF_RGD_ID:197810045
8754077	Myrf	myelin regulatory factor	gene	DOID:10283	prostate cancer		ISO	RGD:1315345	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8754077	Myrf	myelin regulatory factor	gene	DOID:10283	prostate cancer		ISO	RGD:1315345	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8754077	Myrf	myelin regulatory factor	gene	DOID:1115	sarcoma		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8754077	Myrf	myelin regulatory factor	gene	DOID:11162	respiratory failure		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	
8754077	Myrf	myelin regulatory factor	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:30985895|PMID:31266062|PMID:31633846
8754077	Myrf	myelin regulatory factor	gene	DOID:13620	patent foramen ovale		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type	
8754077	Myrf	myelin regulatory factor	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
8754077	Myrf	myelin regulatory factor	gene	DOID:1405	primary angle-closure glaucoma		ISO	RGD:1315345	D	RGD:9068941	20230323	RGD		DNA:mutations:multiple:	PMID:36129575|REF_RGD_ID:199225554
8754077	Myrf	myelin regulatory factor	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
8754077	Myrf	myelin regulatory factor	gene	DOID:1923	disorder of sexual development		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation	PMID:25741868|PMID:30985895|PMID:31266062|PMID:31633846
8754077	Myrf	myelin regulatory factor	gene	DOID:3326	purpura		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Petechiae	
8754077	Myrf	myelin regulatory factor	gene	DOID:3526	cerebral infarction		ISO	RGD:1315345	D	RGD:9068941	20230323	RGD		DNA:SNP:exon:rs174535(human)	PMID:36193932|REF_RGD_ID:213230151
8754077	Myrf	myelin regulatory factor	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1315345	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868|PMID:30985895|PMID:31266062|PMID:31633846
8754077	Myrf	myelin regulatory factor	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome	
8754077	Myrf	myelin regulatory factor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8754077	Myrf	myelin regulatory factor	gene	DOID:4297	scimitar syndrome		ISO	RGD:1315345	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Scimitar syndrome	PMID:25741868
8754077	Myrf	myelin regulatory factor	gene	DOID:4362	cervical cancer		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8754077	Myrf	myelin regulatory factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8754077	Myrf	myelin regulatory factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1315345	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8754077	Myrf	myelin regulatory factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754077	Myrf	myelin regulatory factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8754077	Myrf	myelin regulatory factor	gene	DOID:630	genetic disease		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8754077	Myrf	myelin regulatory factor	gene	DOID:8432	polycythemia		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycythemia	PMID:25741868
8754077	Myrf	myelin regulatory factor	gene	DOID:8466	retinal degeneration		ISO	RGD:1615698	D	RGD:9068941	20230323	RGD			PMID:31048900|REF_RGD_ID:197810045
8754077	Myrf	myelin regulatory factor	gene	DOID:8488	polyhydramnios		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
8754077	Myrf	myelin regulatory factor	gene	DOID:9000039	Spinal Cord Injuries	ameliorates	ISO	RGD:1306622	D	RGD:9068941	20230323	RGD			PMID:27370227|REF_RGD_ID:213230157
8754077	Myrf	myelin regulatory factor	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	
8754077	Myrf	myelin regulatory factor	gene	DOID:9000197	Edema		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema	
8754077	Myrf	myelin regulatory factor	gene	DOID:9000486	Nanophthalmos 1		ISO	RGD:1315345	D	RGD:7240710	20250507	OMIM			
8754077	Myrf	myelin regulatory factor	gene	DOID:9000486	Nanophthalmos 1		ISO	RGD:1315345	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NANOPHTHALMOS 1 | ClinVar Annotator: match by term: Nanophthalmos 1	PMID:25741868
8754077	Myrf	myelin regulatory factor	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25741868
8754077	Myrf	myelin regulatory factor	gene	DOID:9003133	Hypertelorism		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
8754077	Myrf	myelin regulatory factor	gene	DOID:9003497	Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization		ISO	RGD:1315345	D	RGD:7240710	20190417	OMIM			
8754077	Myrf	myelin regulatory factor	gene	DOID:9003497	Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization		ISO	RGD:1315345	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION | ClinVar Annotator: match by term: Encephalitis/encephalopathy, mild, with reversible myelin vacuolization	PMID:25741868
8754077	Myrf	myelin regulatory factor	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	
8754077	Myrf	myelin regulatory factor	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315345	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8754077	Myrf	myelin regulatory factor	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	
8754077	Myrf	myelin regulatory factor	gene	DOID:9006095	Ascites		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ascites	
8754077	Myrf	myelin regulatory factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754077	Myrf	myelin regulatory factor	gene	DOID:9007553	neurotoxicity	treatment	ISO	RGD:1306622	D	RGD:9068941	20230323	RGD			PMID:33166664|REF_RGD_ID:213230154
8754077	Myrf	myelin regulatory factor	gene	DOID:9007788	Cardiac-Urogenital Syndrome		ISO	RGD:1315345	D	RGD:7240710	20190501	OMIM			
8754077	Myrf	myelin regulatory factor	gene	DOID:9007788	Cardiac-Urogenital Syndrome		ISO	RGD:1315345	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CARDIAC-UROGENITAL SYNDROME | ClinVar Annotator: match by term: Cardiac-urogenital syndrome | ClinVar Annotator: match by term: MYRF-related condition | ClinVar Annotator: match by term: cardiac-urogenital syndrome	PMID:25741868|PMID:28492532|PMID:29446546|PMID:30532227|PMID:30985895|PMID:31069960|PMID:31266062|PMID:31633846|PMID:33179293|PMID:34782754
8754077	Myrf	myelin regulatory factor	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:1306622	D	RGD:9068941	20230323	RGD		mRNA:decreased expression: oligodendrocyte	PMID:29915135|REF_RGD_ID:213230153
8754077	Myrf	myelin regulatory factor	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1315345	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	PMID:25741868
8754077	Myrf	myelin regulatory factor	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:25741868
8754077	Myrf	myelin regulatory factor	gene	DOID:9008582	Developmental Disease		ISO	RGD:1315345	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8754077	Myrf	myelin regulatory factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8754077	Myrf	myelin regulatory factor	gene	DOID:9565	dextrocardia		ISO	RGD:1315345	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dextrocardia	PMID:25741868|PMID:30532227
8754077	Myrf	myelin regulatory factor	gene	DOID:9834	hyperopia		ISO	RGD:1315345	D	RGD:9068941	20230323	RGD		DNA:mutations:multiple:	PMID:36129575|REF_RGD_ID:199225554
8754077	Myrf	myelin regulatory factor	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	
8754107	Pygb	glycogen phosphorylase B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754107	Pygb	glycogen phosphorylase B	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:736182	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8754107	Pygb	glycogen phosphorylase B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8754107	Pygb	glycogen phosphorylase B	gene	DOID:1115	sarcoma		ISO	RGD:736182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8754107	Pygb	glycogen phosphorylase B	gene	DOID:1324	lung cancer		ISO	RGD:736182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8754107	Pygb	glycogen phosphorylase B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8754107	Pygb	glycogen phosphorylase B	gene	DOID:3275	thymoma		ISO	RGD:736182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8754107	Pygb	glycogen phosphorylase B	gene	DOID:5041	esophageal cancer		ISO	RGD:736182	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8754107	Pygb	glycogen phosphorylase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754107	Pygb	glycogen phosphorylase B	gene	DOID:6039	uveal melanoma		ISO	RGD:736182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8754107	Pygb	glycogen phosphorylase B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8754107	Pygb	glycogen phosphorylase B	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:736182	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8754107	Pygb	glycogen phosphorylase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754107	Pygb	glycogen phosphorylase B	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:736182	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8754107	Pygb	glycogen phosphorylase B	gene	DOID:9007661	Dwarfism		ISO	RGD:736182	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
8754107	Pygb	glycogen phosphorylase B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8754107	Pygb	glycogen phosphorylase B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736182	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8754136	Sgca	sarcoglycan alpha	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1317616	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:12746421|PMID:18285821|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31931849
8754136	Sgca	sarcoglycan alpha	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1317616	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
8754136	Sgca	sarcoglycan alpha	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1317616	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:10942431|PMID:12075495|PMID:12566530|PMID:12746421|PMID:15298081|PMID:17994539|PMID:18285821|PMID:18421900|PMID:18535179|PMID:18996010|PMID:19798725|PMID:21031578|PMID:22095924|PMID:24033266|PMID:24565866|PMID:24742800|PMID:25135358|PMID:25214167|PMID:25741868|PMID:26404900|PMID:26453141|PMID:26467025|PMID:26916285|PMID:26934379|PMID:27120200|PMID:28403181|PMID:28492532|PMID:29382405|PMID:30703231|PMID:30764848|PMID:30919934|PMID:31069529|PMID:31407473|PMID:31517061|PMID:31791368|PMID:31847883|PMID:35948506|PMID:7663524|PMID:7668821|PMID:8069911|PMID:9032047|PMID:9153448|PMID:9192266|PMID:9393893|PMID:9585331
8754136	Sgca	sarcoglycan alpha	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1317616	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:10942431|PMID:10993494|PMID:12075495|PMID:12566530|PMID:12746421|PMID:15298081|PMID:15833425|PMID:17994539|PMID:18285821|PMID:18421900|PMID:18535179|PMID:18996010|PMID:19798725|PMID:21031578|PMID:22095924|PMID:24033266|PMID:24464767|PMID:24565866|PMID:24742800|PMID:25135358|PMID:25214167|PMID:25741868|PMID:25898921|PMID:26404900|PMID:26453141|PMID:26467025|PMID:26916285|PMID:26934379|PMID:27120200|PMID:28403181|PMID:28492532|PMID:29382405|PMID:30345904|PMID:30703231|PMID:30764848|PMID:30919934|PMID:31069529|PMID:31407473|PMID:31517061|PMID:31791368|PMID:31847883|PMID:35948506|PMID:7663524|PMID:7668821|PMID:8069911|PMID:9032047|PMID:9153448|PMID:9192266|PMID:9393893|PMID:9455986|PMID:9585331
8754136	Sgca	sarcoglycan alpha	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1317616	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:10385046|PMID:10942431|PMID:10993494|PMID:11693784|PMID:12075495|PMID:12566530|PMID:12746421|PMID:15298081|PMID:15736300|PMID:15833425|PMID:16616845|PMID:16633953|PMID:16787395|PMID:17576681|PMID:17994539|PMID:18252745|PMID:18285821|PMID:18421900|PMID:18535179|PMID:18996010|PMID:19798725|PMID:21031578|PMID:21856579|PMID:22095924|PMID:24033266|PMID:24464767|PMID:24565866|PMID:24742800|PMID:25135358|PMID:25214167|PMID:25741868|PMID:25898921|PMID:26404900|PMID:26453141|PMID:26467025|PMID:26916285|PMID:26934379|PMID:27120200|PMID:28403181|PMID:28492532|PMID:29351619|PMID:29382405|PMID:30107846|PMID:30345904|PMID:30703231|PMID:30764848|PMID:30919934|PMID:31069529|PMID:31407473|PMID:31517061|PMID:31791368|PMID:31847883|PMID:32382396|PMID:33848270|PMID:34602496|PMID:35948506|PMID:7657792|PMID:7663524|PMID:7668821|PMID:8069911|PMID:8528203|PMID:8866424|PMID:9032047|PMID:9153448|PMID:9192266|PMID:9393893|PMID:9455986|PMID:9536098|PMID:9585331
8754136	Sgca	sarcoglycan alpha	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1317616	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive	PMID:12075495|PMID:12566530|PMID:12746421|PMID:17576681|PMID:17994539|PMID:18285821|PMID:18421900|PMID:18996010|PMID:19798725|PMID:22095924|PMID:24033266|PMID:24565866|PMID:24742800|PMID:25135358|PMID:25214167|PMID:25741868|PMID:26404900|PMID:26453141|PMID:26467025|PMID:26916285|PMID:27120200|PMID:28403181|PMID:28492532|PMID:29351619|PMID:30703231|PMID:30764848|PMID:30919934|PMID:31836381|PMID:31847883|PMID:32153140|PMID:35116532|PMID:38374194|PMID:39678382|PMID:9032047|PMID:9192266|PMID:9536098|PMID:9585331
8754136	Sgca	sarcoglycan alpha	gene	DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D		ISO	RGD:1317616	D	RGD:7240710	20180130	OMIM			
8754136	Sgca	sarcoglycan alpha	gene	DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D		ISO	RGD:1317616	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D | ClinVar Annotator: match by term: Duchenne-like autosomal recessive muscular dystrophy, type 2 | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy type 2D | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2D | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2D | ClinVar Annotator: match by term: Sarcoglycanopathy	PMID:10842281|PMID:10942431|PMID:10993494|PMID:11475588|PMID:11693784|PMID:12075495|PMID:12566530|PMID:12746421|PMID:15833425|PMID:16199547|PMID:16616845|PMID:16633953|PMID:16778590|PMID:17562833|PMID:17576681|PMID:17994539|PMID:18285821|PMID:18414213|PMID:18421900|PMID:18535179|PMID:18996010|PMID:19798725|PMID:19835634|PMID:20623375|PMID:21031578|PMID:22095924|PMID:22303798|PMID:24033266|PMID:24464767|PMID:24565866|PMID:24742800|PMID:25046369|PMID:25135358|PMID:25214167|PMID:25741868|PMID:25802880|PMID:25898921|PMID:26404900|PMID:26453141|PMID:26467025|PMID:26916285|PMID:26934379|PMID:26944168|PMID:27120200|PMID:27363342|PMID:27906075|PMID:28403181|PMID:28492532|PMID:28687063|PMID:28889091|PMID:29351619|PMID:29382405|PMID:29970176|PMID:30107846|PMID:30218921|PMID:30345904|PMID:30564623|PMID:30703231|PMID:30764848|PMID:30838351|PMID:30919934|PMID:31061434|PMID:31066050|PMID:31069529|PMID:31127727|PMID:31130284|PMID:31268554|PMID:31517061|PMID:31791368|PMID:31847883|PMID:31931849|PMID:32140910|PMID:32153140|PMID:32382396|PMID:32528171|PMID:32875335|PMID:33386810|PMID:33848270|PMID:34426522|PMID:34505136|PMID:34602496|PMID:35116532|PMID:35239206|PMID:35416532|PMID:35948506|PMID:36213152|PMID:36374152|PMID:37524782|PMID:37526466|PMID:38374194|PMID:38876406|PMID:39678382|PMID:39755676|PMID:7663524|PMID:7668821|PMID:8069911|PMID:8866424|PMID:9032047|PMID:9153448|PMID:9192266|PMID:9266733|PMID:9393893|PMID:9455986|PMID:9536098
8754136	Sgca	sarcoglycan alpha	gene	DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D	treatment	ISO	RGD:1317616	D	RGD:9068941	20200609	RGD			PMID:17653106|REF_RGD_ID:13605612
8754136	Sgca	sarcoglycan alpha	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1317616	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
8754136	Sgca	sarcoglycan alpha	gene	DOID:630	genetic disease		ISO	RGD:1317616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:32153140
8754136	Sgca	sarcoglycan alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8754136	Sgca	sarcoglycan alpha	gene	DOID:767	muscular atrophy		ISO	RGD:1308062	D	RGD:9068941	20200609	RGD		protein:decreased expression:gastrocnemius	PMID:12107060|REF_RGD_ID:625642
8754136	Sgca	sarcoglycan alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754136	Sgca	sarcoglycan alpha	gene	DOID:9884	muscular dystrophy		ISO	RGD:1317616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:12566530|PMID:17994539|PMID:18285821|PMID:22095924|PMID:24565866|PMID:25741868|PMID:28492532|PMID:29351619|PMID:32153140|PMID:9032047
8754166	Meioc	meiosis specific with coiled-coil domain	gene	DOID:10534	stomach cancer		ISO	RGD:1605246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8754166	Meioc	meiosis specific with coiled-coil domain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754166	Meioc	meiosis specific with coiled-coil domain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8754166	Meioc	meiosis specific with coiled-coil domain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754181	Vpreb3	V-set pre-B cell surrogate light chain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754181	Vpreb3	V-set pre-B cell surrogate light chain 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8754181	Vpreb3	V-set pre-B cell surrogate light chain 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754181	Vpreb3	V-set pre-B cell surrogate light chain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8754244	Cfap298	cilia and flagella associated protein 298	gene	DOID:0110627	primary ciliary dyskinesia 26		ISO	RGD:1315861	D	RGD:7240710	20180130	OMIM			
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:24726473|PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:0050646	distal arthrogryposis		ISO	RGD:1345467	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Distal arthrogryposis	PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:0050840	cervical dystonia		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:24726473|PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:0051019	visceral heterotaxy 4		ISO	RGD:1345467	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal	PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:0060249	scoliosis		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma	PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:24726473|PMID:25741868|PMID:27974811|PMID:31680123
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1345467	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Fetal akinesia sequence	PMID:20813920|PMID:24155313|PMID:24726473|PMID:25712306|PMID:25741868|PMID:27714920|PMID:27912047|PMID:30285720|PMID:30988732|PMID:31680123
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:0111607	distal arthrogryposis type 3		ISO	RGD:1345467	D	RGD:7240710	20180130	OMIM			
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:0111607	distal arthrogryposis type 3		ISO	RGD:1345467	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 3 | ClinVar Annotator: match by term: CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT | ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot | ClinVar Annotator: match by term: Gordon syndrome	PMID:24726473|PMID:25741868|PMID:27653382|PMID:27843126|PMID:28492532|PMID:30988732
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:0111608	distal arthrogryposis type 5		ISO	RGD:1345467	D	RGD:7240710	20180130	OMIM			
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:0111608	distal arthrogryposis type 5		ISO	RGD:1345467	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 5 | ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE IIB | ClinVar Annotator: match by term: Arthrogryposis with oculomotor limitation and electroretinal abnormalities | ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	PMID:24726473|PMID:25741868|PMID:28492532|PMID:30988732|PMID:31589614|PMID:31680123|PMID:32901917|PMID:33422128
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:10348	blepharophimosis		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:24726473|PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:1059	intellectual disability		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:1115	sarcoma		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:11836	clubfoot		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:24726473|PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:1324	lung cancer		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:13620	patent foramen ovale		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:1969	cerebral palsy		ISO	RGD:1345467	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:2300	spondylolysis		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spondylolysis	PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:423	myopathy		ISO	RGD:1345467	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:4702	mongolian spot		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	PMID:24726473|PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1345467	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:5419	schizophrenia		ISO	RGD:1345467	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:630	genetic disease		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24726473|PMID:25741868|PMID:27653382|PMID:27843126|PMID:28492532|PMID:30988732|PMID:37813462|PMID:38843839
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:674	cleft palate		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:24726473|PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9000467	Marden-Walker Syndrome		ISO	RGD:1345467	D	RGD:7240710	20180130	OMIM			
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9000467	Marden-Walker Syndrome		ISO	RGD:1345467	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder Marden Walker type | ClinVar Annotator: match by term: Marden-Walker syndrome	PMID:24726473|PMID:25741868|PMID:28492532|PMID:30988732|PMID:31589614|PMID:33422128
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:24726473|PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9001581	Constipation		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1345467	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:24726473|PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9004979	Knee Dislocation		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Knee dislocation	PMID:28492532
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:24726473|PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9005616	Micrognathism		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9005963	Distal Arthrogryposis, with Impaired Proprioception and Touch		ISO	RGD:1345467	D	RGD:7240710	20190315	OMIM			
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9005963	Distal Arthrogryposis, with Impaired Proprioception and Touch		ISO	RGD:1345467	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH | ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch	PMID:1510371|PMID:17576681|PMID:1941966|PMID:24726473|PMID:25741868|PMID:27653382|PMID:27843126|PMID:28492532|PMID:30988732|PMID:37813462|PMID:38843839|PMID:9536098
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip dislocation	PMID:24726473|PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9007573	Flatfoot		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24726473|PMID:25741868|PMID:27653382|PMID:27843126|PMID:28492532|PMID:38843839
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9008589	Hallux Valgus		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:24726473|PMID:25741868
8754261	Piezo2	piezo type mechanosensitive ion channel component 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8754321	Shpk	sedoheptulokinase	gene	DOID:10534	stomach cancer		ISO	RGD:1317524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8754321	Shpk	sedoheptulokinase	gene	DOID:1324	lung cancer		ISO	RGD:1317524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8754321	Shpk	sedoheptulokinase	gene	DOID:3275	thymoma		ISO	RGD:1317524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8754321	Shpk	sedoheptulokinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754321	Shpk	sedoheptulokinase	gene	DOID:9001808	SEDOHEPTULOKINASE DEFICIENCY		ISO	RGD:1317524	D	RGD:7240710	20190315	OMIM			
8754321	Shpk	sedoheptulokinase	gene	DOID:9001808	SEDOHEPTULOKINASE DEFICIENCY		ISO	RGD:1317524	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: SEDOHEPTULOKINASE DEFICIENCY | ClinVar Annotator: match by term: SHPK-related condition	PMID:25647543|PMID:25741868|PMID:28492532
8754321	Shpk	sedoheptulokinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754332	Il25	interleukin 25	gene	DOID:10808	gastric ulcer	treatment	ISO	RGD:1561632	D	RGD:9068941	20201218	RGD			PMID:26054198|REF_RGD_ID:40902976
8754332	Il25	interleukin 25	gene	DOID:1580	diffuse scleroderma	severity	ISO	RGD:1344819	D	RGD:9068941	20260129	RGD		protein:increased espression:blood, serum	PMID:32686186|REF_RGD_ID:631734365
8754332	Il25	interleukin 25	gene	DOID:2841	asthma		ISO	RGD:1557614	D	RGD:9068941	20201218	RGD		mRNA, protein:increased expression:lung	PMID:25273095|REF_RGD_ID:39128256
8754332	Il25	interleukin 25	gene	DOID:3310	atopic dermatitis		ISO	RGD:1344819	D	RGD:9068941	20201218	RGD		protein:increased expression:arm skin	PMID:23657503|REF_RGD_ID:39128244
8754332	Il25	interleukin 25	gene	DOID:4481	allergic rhinitis		ISO	RGD:1344819	D	RGD:9068941	20260214	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:19968632|REF_RGD_ID:632518407
8754332	Il25	interleukin 25	gene	DOID:8893	psoriasis		ISO	RGD:1344819	D	RGD:9068941	20201218	RGD		protein:increased expression:arm skin	PMID:23657503|REF_RGD_ID:39128244
8754332	Il25	interleukin 25	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:1557614	D	RGD:9068941	20201218	RGD			PMID:19118508|REF_RGD_ID:39456129
8754332	Il25	interleukin 25	gene	DOID:9000917	Amoebic Dysentery due to Entamoeba Histolytica		ISO	RGD:1344819	D	RGD:9068941	20201218	RGD		protein:decreased expression:intestine	PMID:28246365|REF_RGD_ID:39128243
8754332	Il25	interleukin 25	gene	DOID:9000917	Amoebic Dysentery due to Entamoeba Histolytica		ISO	RGD:1557614	D	RGD:9068941	20201218	RGD		protein:decreased expression:intestine	PMID:28246365|REF_RGD_ID:39128243
8754332	Il25	interleukin 25	gene	DOID:9003470	Picornaviridae Infections		ISO	RGD:1344819	D	RGD:9068941	20201218	RGD		protein:increased expression:nasal mucus	PMID:25273095|REF_RGD_ID:39128256
8754332	Il25	interleukin 25	gene	DOID:9003470	Picornaviridae Infections		ISO	RGD:1557614	D	RGD:9068941	20201218	RGD		mRNA, protein:increased expression:lung	PMID:25273095|REF_RGD_ID:39128256
8754332	Il25	interleukin 25	gene	DOID:9009419	digital ulcer		ISO	RGD:1344819	D	RGD:9068941	20260212	RGD		associated with systemic scleroderma;protein:increased expression:blood serum	PMID:32686186|REF_RGD_ID:631734365
8754332	Il25	interleukin 25	gene	DOID:9415	allergic asthma	treatment	ISO	RGD:1557614	D	RGD:9068941	20201218	RGD			PMID:17889290|REF_RGD_ID:40902975
8754338	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8754338	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:0050742	nicotine dependence		ISO	RGD:1322218	D	RGD:9068941	20241107	CTD		CTD Direct Evidence: marker/mechanism	PMID:29216386
8754338	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1322218	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
8754338	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754338	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:0060673	Peters anomaly		ISO	RGD:1322218	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis	PMID:25741868|PMID:28492532
8754338	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:0070411	autosomal recessive spinocerebellar ataxia 30		ISO	RGD:1322218	D	RGD:7240710	20210728	OMIM			
8754338	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:0070411	autosomal recessive spinocerebellar ataxia 30		ISO	RGD:1322218	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PITRM1-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30	PMID:25741868|PMID:28492532|PMID:29764912|PMID:37576821
8754338	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8754338	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8754338	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8754338	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:1324	lung cancer		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8754338	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:1909	melanoma		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8754338	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:3275	thymoma		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8754338	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8754338	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8754338	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8754338	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322218	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8754338	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754338	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8754338	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754338	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8754338	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8754373	Aspnat	aspartate N-acetyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1602409	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8754373	Aspnat	aspartate N-acetyltransferase	gene	DOID:10907	microcephaly		ISO	RGD:1602409	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8754373	Aspnat	aspartate N-acetyltransferase	gene	DOID:9004612	N-Acetylaspartate Deficiency		ISO	RGD:1602409	D	RGD:7240710	20180130	OMIM			
8754373	Aspnat	aspartate N-acetyltransferase	gene	DOID:9004612	N-Acetylaspartate Deficiency		ISO	RGD:1602409	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: N-acetylaspartate deficiency	
8754380	Banf1	barrier to autointegration nuclear assembly factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754380	Banf1	barrier to autointegration nuclear assembly factor 1	gene	DOID:0081334	Nestor-Guillermo progeria syndrome		ISO	RGD:1342836	D	RGD:7240710	20180130	OMIM			
8754380	Banf1	barrier to autointegration nuclear assembly factor 1	gene	DOID:0081334	Nestor-Guillermo progeria syndrome		ISO	RGD:1342836	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NESTOR-GUILLERMO PROGERIA SYNDROME | ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome	PMID:23720404
8754380	Banf1	barrier to autointegration nuclear assembly factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1342836	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8754380	Banf1	barrier to autointegration nuclear assembly factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754380	Banf1	barrier to autointegration nuclear assembly factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342836	D	RGD:9068941	20230105	RGD		mRNA, protein:increased expression:liver (human)	PMID:29059470|REF_RGD_ID:155791679
8754380	Banf1	barrier to autointegration nuclear assembly factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:620662	D	RGD:9068941	20230105	RGD		mRNA, protein:increased expression:liver (rat)	PMID:29059470|REF_RGD_ID:155791679
8754380	Banf1	barrier to autointegration nuclear assembly factor 1	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:732240	D	RGD:9068941	20230105	RGD			PMID:29059470|REF_RGD_ID:155791679
8754380	Banf1	barrier to autointegration nuclear assembly factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8754387	Nubp2	NUBP iron-sulfur cluster assembly factor 2, cytosolic	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8754387	Nubp2	NUBP iron-sulfur cluster assembly factor 2, cytosolic	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8754387	Nubp2	NUBP iron-sulfur cluster assembly factor 2, cytosolic	gene	DOID:1324	lung cancer		ISO	RGD:1312953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8754387	Nubp2	NUBP iron-sulfur cluster assembly factor 2, cytosolic	gene	DOID:3275	thymoma		ISO	RGD:1312953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8754387	Nubp2	NUBP iron-sulfur cluster assembly factor 2, cytosolic	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8754387	Nubp2	NUBP iron-sulfur cluster assembly factor 2, cytosolic	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8754387	Nubp2	NUBP iron-sulfur cluster assembly factor 2, cytosolic	gene	DOID:5041	esophageal cancer		ISO	RGD:1312953	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8754387	Nubp2	NUBP iron-sulfur cluster assembly factor 2, cytosolic	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8754387	Nubp2	NUBP iron-sulfur cluster assembly factor 2, cytosolic	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754387	Nubp2	NUBP iron-sulfur cluster assembly factor 2, cytosolic	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8754387	Nubp2	NUBP iron-sulfur cluster assembly factor 2, cytosolic	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754407	Sigirr	single Ig and TIR domain containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8754407	Sigirr	single Ig and TIR domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754407	Sigirr	single Ig and TIR domain containing	gene	DOID:0080600	COVID-19		ISO	RGD:1604804	D	RGD:9068941	20200702	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8754407	Sigirr	single Ig and TIR domain containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8754407	Sigirr	single Ig and TIR domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1604804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8754407	Sigirr	single Ig and TIR domain containing	gene	DOID:3275	thymoma		ISO	RGD:1604804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8754407	Sigirr	single Ig and TIR domain containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1604804	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8754407	Sigirr	single Ig and TIR domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754407	Sigirr	single Ig and TIR domain containing	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8754407	Sigirr	single Ig and TIR domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754407	Sigirr	single Ig and TIR domain containing	gene	DOID:9256	colorectal cancer		ISO	RGD:1604804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312937	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:27569545
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:0060058	lymphoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:0060249	scoliosis		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:38816421
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:38816421
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868|PMID:38816421
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312937	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:1059	intellectual disability		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:38816421
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:10907	microcephaly		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:38816421
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:1115	sarcoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:12849	autistic disorder		ISO	RGD:1312937	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:14264	benign neonatal seizures		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal seizure	PMID:25741868|PMID:38816421
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:1826	epilepsy		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizures	
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:1909	melanoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:303	substance-related disorder		ISO	RGD:1312937	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:3275	thymoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312937	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:5419	schizophrenia		ISO	RGD:1312937	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:670	amphetamine abuse		ISO	RGD:1312937	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:8893	psoriasis		ISO	RGD:1312937	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20953187
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:9007595	Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome		ISO	RGD:1312937	D	RGD:9068941	20260212	RGD		DNA:SNPs: :rs11779254, rs6997939	PMID:24876173|REF_RGD_ID:632518374
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:38816421
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8754435	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8754511	Nol9	nucleolar protein 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754511	Nol9	nucleolar protein 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8754511	Nol9	nucleolar protein 9	gene	DOID:1324	lung cancer		ISO	RGD:1605957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8754511	Nol9	nucleolar protein 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8754511	Nol9	nucleolar protein 9	gene	DOID:3275	thymoma		ISO	RGD:1605957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8754511	Nol9	nucleolar protein 9	gene	DOID:4362	cervical cancer		ISO	RGD:1605957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8754511	Nol9	nucleolar protein 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1605957	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8754511	Nol9	nucleolar protein 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754511	Nol9	nucleolar protein 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8754511	Nol9	nucleolar protein 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8754511	Nol9	nucleolar protein 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754511	Nol9	nucleolar protein 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8754528	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8754528	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754528	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8754528	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:3275	thymoma		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8754528	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8754528	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:4362	cervical cancer		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8754528	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347120	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8754528	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8754528	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754528	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8754528	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8754528	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8754528	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8754528	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8754591	Rdh8	retinol dehydrogenase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754591	Rdh8	retinol dehydrogenase 8	gene	DOID:0061240	Stargardt disease 5		ISO	RGD:1319361	D	RGD:7240710	20260304	OMIM			
8754591	Rdh8	retinol dehydrogenase 8	gene	DOID:0061240	Stargardt disease 5		ISO	RGD:1319361	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Stargardt disease 5	PMID:25741868
8754591	Rdh8	retinol dehydrogenase 8	gene	DOID:1324	lung cancer		ISO	RGD:1319361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8754591	Rdh8	retinol dehydrogenase 8	gene	DOID:1909	melanoma		ISO	RGD:1319361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8754591	Rdh8	retinol dehydrogenase 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8754591	Rdh8	retinol dehydrogenase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754601	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754601	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:10534	stomach cancer		ISO	RGD:1315923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8754601	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:1115	sarcoma		ISO	RGD:1315923	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8754601	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:1324	lung cancer		ISO	RGD:1315923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8754601	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:1909	melanoma		ISO	RGD:1315923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8754601	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8754601	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:4362	cervical cancer		ISO	RGD:1315923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8754601	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8754601	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:5041	esophageal cancer		ISO	RGD:1315923	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8754601	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754601	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8754601	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315923	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754601	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8754601	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:9256	colorectal cancer		ISO	RGD:1315923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8754620	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8754620	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754620	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:10286	prostate carcinoma	disease_progression	ISO	RGD:1606832	D	RGD:9068941	20200609	RGD		protein:decreased expression:prostate gland (human)	PMID:16492908|REF_RGD_ID:1581314
8754620	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1606832	D	RGD:9068941	20200609	RGD		protein:decreased expression:parietal cortex (human)	PMID:9743567|REF_RGD_ID:1581317
8754620	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8754620	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1550885	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver:	PMID:21898507|REF_RGD_ID:10043111
8754620	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:1324	lung cancer		ISO	RGD:1606832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8754620	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:13580	cholestasis		ISO	RGD:1550885	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver:	PMID:21898507|REF_RGD_ID:10043111
8754620	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:13608	biliary atresia	disease_progression	ISO	RGD:1606832	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver:	PMID:21898507|REF_RGD_ID:10043111
8754620	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:1612	breast cancer	severity	ISO	RGD:1606832	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:breast (human)	PMID:14734471|REF_RGD_ID:1581315
8754620	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:1697	ichthyosis		ISO	RGD:1550885	D	RGD:9068941	20200609	RGD			PMID:18832587|REF_RGD_ID:10043094
8754620	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8754620	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1606832	D	RGD:9068941	20200609	RGD		protein:decreased expression:ovarian epithelium (human)	PMID:11948120|REF_RGD_ID:1581316
8754620	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8754620	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1303138	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spleen:	PMID:15086199|REF_RGD_ID:10043112
8754620	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:5517	stomach carcinoma	severity	ISO	RGD:1606832	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:stomach (human)	PMID:16273651|REF_RGD_ID:1581312
8754620	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754620	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8754620	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1606832	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:colon (human)	PMID:16820046|REF_RGD_ID:1581311
8754620	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8754661	Chchd2	coiled-coil-helix-coiled-coil-helix domain containing 2	gene	DOID:0080504	Parkinson's disease 22		ISO	RGD:1320361	D	RGD:7240710	20180130	OMIM			
8754661	Chchd2	coiled-coil-helix-coiled-coil-helix domain containing 2	gene	DOID:0080504	Parkinson's disease 22		ISO	RGD:1320361	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHCHD2-related condition | ClinVar Annotator: match by term: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Parkinson disease 22, autosomal dominant	PMID:25662902|PMID:25741868|PMID:26067110|PMID:26561290|PMID:27269965|PMID:28432706|PMID:28492532|PMID:28589937|PMID:30496485|PMID:30530185|PMID:31600778|PMID:32068847|PMID:35173147|PMID:35402650
8754661	Chchd2	coiled-coil-helix-coiled-coil-helix domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1320361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8754661	Chchd2	coiled-coil-helix-coiled-coil-helix domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1320361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8754661	Chchd2	coiled-coil-helix-coiled-coil-helix domain containing 2	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1320361	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta	
8754661	Chchd2	coiled-coil-helix-coiled-coil-helix domain containing 2	gene	DOID:3070	high grade glioma		ISO	RGD:1320361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8754661	Chchd2	coiled-coil-helix-coiled-coil-helix domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320361	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8754661	Chchd2	coiled-coil-helix-coiled-coil-helix domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8754661	Chchd2	coiled-coil-helix-coiled-coil-helix domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754661	Chchd2	coiled-coil-helix-coiled-coil-helix domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8754673	Inip	INTS3 and NABP interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754673	Inip	INTS3 and NABP interacting protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8754673	Inip	INTS3 and NABP interacting protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8754673	Inip	INTS3 and NABP interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:0050731	vitamin B12 deficiency		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cobalamin deficiency	PMID:25741868
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:0060249	scoliosis		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:0111432	essential tremor 5		ISO	RGD:1312224	D	RGD:7240710	20190315	OMIM			
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:0111432	essential tremor 5		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: TENM4-related condition | ClinVar Annotator: match by term: TREMOR, HEREDITARY ESSENTIAL, 5 | ClinVar Annotator: match by term: Tremor, hereditary essential, 5	PMID:25741868|PMID:26188006|PMID:28492532
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:1909	melanoma		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:3312	bipolar disorder		ISO	RGD:1312224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21926972
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:4990	essential tremor		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Essential tremor	
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1312224	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:674	cleft palate		ISO	RGD:1312224	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cleft palate	
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:9001694	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	PMID:25741868
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8754680	Tenm4	teneurin transmembrane protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8754721	Myl6	myosin light chain 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8754721	Myl6	myosin light chain 6	gene	DOID:10534	stomach cancer		ISO	RGD:1313756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8754721	Myl6	myosin light chain 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8754721	Myl6	myosin light chain 6	gene	DOID:1115	sarcoma		ISO	RGD:1313756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8754721	Myl6	myosin light chain 6	gene	DOID:1909	melanoma		ISO	RGD:1313756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8754721	Myl6	myosin light chain 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8754721	Myl6	myosin light chain 6	gene	DOID:4362	cervical cancer		ISO	RGD:1313756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8754721	Myl6	myosin light chain 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754721	Myl6	myosin light chain 6	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8754735	Egfl7	EGF like domain multiple 7	gene	DOID:0060058	lymphoma		ISO	RGD:1602888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8754735	Egfl7	EGF like domain multiple 7	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1602888	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
8754735	Egfl7	EGF like domain multiple 7	gene	DOID:10534	stomach cancer		ISO	RGD:1602888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8754735	Egfl7	EGF like domain multiple 7	gene	DOID:1115	sarcoma		ISO	RGD:1602888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8754735	Egfl7	EGF like domain multiple 7	gene	DOID:3275	thymoma		ISO	RGD:1602888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8754735	Egfl7	EGF like domain multiple 7	gene	DOID:4362	cervical cancer		ISO	RGD:1602888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8754735	Egfl7	EGF like domain multiple 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8754735	Egfl7	EGF like domain multiple 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602888	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8754735	Egfl7	EGF like domain multiple 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1602888	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8754735	Egfl7	EGF like domain multiple 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754735	Egfl7	EGF like domain multiple 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602888	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8754735	Egfl7	EGF like domain multiple 7	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602888	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8754735	Egfl7	EGF like domain multiple 7	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8754735	Egfl7	EGF like domain multiple 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754735	Egfl7	EGF like domain multiple 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8754757	Kifc1	kinesin family member C1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8754757	Kifc1	kinesin family member C1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754757	Kifc1	kinesin family member C1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1349353	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8754757	Kifc1	kinesin family member C1	gene	DOID:0080600	COVID-19		ISO	RGD:1349353	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8754757	Kifc1	kinesin family member C1	gene	DOID:10534	stomach cancer		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8754757	Kifc1	kinesin family member C1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8754757	Kifc1	kinesin family member C1	gene	DOID:1324	lung cancer		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8754757	Kifc1	kinesin family member C1	gene	DOID:3275	thymoma		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8754757	Kifc1	kinesin family member C1	gene	DOID:4362	cervical cancer		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8754757	Kifc1	kinesin family member C1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8754757	Kifc1	kinesin family member C1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8754757	Kifc1	kinesin family member C1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754757	Kifc1	kinesin family member C1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349353	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8754757	Kifc1	kinesin family member C1	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:1349353	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26177331
8754757	Kifc1	kinesin family member C1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754757	Kifc1	kinesin family member C1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8754776	Eepd1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754776	Eepd1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8754776	Eepd1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8754776	Eepd1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8754776	Eepd1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8754776	Eepd1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8754776	Eepd1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754776	Eepd1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8754776	Eepd1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754776	Eepd1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8754799	Rusc1	RUN and SH3 domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8754799	Rusc1	RUN and SH3 domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1349680	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8754799	Rusc1	RUN and SH3 domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8754799	Rusc1	RUN and SH3 domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8754799	Rusc1	RUN and SH3 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754799	Rusc1	RUN and SH3 domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8754799	Rusc1	RUN and SH3 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754799	Rusc1	RUN and SH3 domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8754814	Gyg1	glycogenin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8754814	Gyg1	glycogenin 1	gene	DOID:0050579	glycogen storage disease XV		ISO	RGD:1348748	D	RGD:7240710	20180130	OMIM			
8754814	Gyg1	glycogenin 1	gene	DOID:0050579	glycogen storage disease XV		ISO	RGD:1348748	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GSD XV | ClinVar Annotator: match by term: Glycogen storage disease XV	PMID:16199547|PMID:17576681|PMID:20357282|PMID:24033266|PMID:25272951|PMID:25741868|PMID:26652229|PMID:26944241|PMID:27066558|PMID:27544502|PMID:27718144|PMID:28453664|PMID:28492532|PMID:29143313|PMID:29264399|PMID:29422440|PMID:31628455|PMID:31791869|PMID:32477874|PMID:32528171|PMID:34426522|PMID:34662886|PMID:39679724|PMID:9536098
8754814	Gyg1	glycogenin 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1348748	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:20357282|PMID:24033266|PMID:25272951|PMID:25741868|PMID:28453664|PMID:28492532|PMID:29143313|PMID:29264399|PMID:29422440|PMID:31628455|PMID:31791869|PMID:32528171
8754814	Gyg1	glycogenin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754814	Gyg1	glycogenin 1	gene	DOID:0080307	myofibrillar myopathy		ISO	RGD:1348748	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myofibrillar myopathy	PMID:17576681|PMID:20357282|PMID:24033266|PMID:25272951|PMID:25741868|PMID:26652229|PMID:28453664|PMID:28492532|PMID:29143313|PMID:29264399|PMID:29422440|PMID:31628455|PMID:31791869|PMID:32528171|PMID:9536098
8754814	Gyg1	glycogenin 1	gene	DOID:1115	sarcoma		ISO	RGD:1348748	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:24033266|PMID:25272951|PMID:25741868|PMID:26944241|PMID:27718144|PMID:28492532|PMID:31791869|PMID:32477874|PMID:32528171|PMID:34426522|PMID:34662886|PMID:39679724
8754814	Gyg1	glycogenin 1	gene	DOID:1909	melanoma		ISO	RGD:1348748	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:24033266|PMID:25272951|PMID:25741868|PMID:26944241|PMID:27718144|PMID:28492532|PMID:31791869|PMID:32477874|PMID:32528171|PMID:34426522|PMID:34662886|PMID:39679724
8754814	Gyg1	glycogenin 1	gene	DOID:2747	glycogen storage disease		ISO	RGD:1348748	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glycogen storage disease	PMID:24033266|PMID:25272951|PMID:25741868|PMID:26944241|PMID:27718144|PMID:28492532|PMID:31791869|PMID:32477874|PMID:32528171|PMID:34426522|PMID:34662886|PMID:39679724
8754814	Gyg1	glycogenin 1	gene	DOID:423	myopathy		ISO	RGD:1348748	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:20357282|PMID:24033266|PMID:25272951|PMID:25741868|PMID:28453664|PMID:28492532|PMID:29143313|PMID:29264399|PMID:29422440|PMID:31628455|PMID:31791869|PMID:32528171
8754814	Gyg1	glycogenin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8754814	Gyg1	glycogenin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:17576681|PMID:25272951|PMID:25741868|PMID:26652229|PMID:28492532|PMID:29264399|PMID:9536098
8754814	Gyg1	glycogenin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348748	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:24033266|PMID:25272951|PMID:25741868|PMID:26944241|PMID:27718144|PMID:28492532|PMID:31791869|PMID:32477874|PMID:32528171|PMID:34426522|PMID:34662886|PMID:39679724
8754814	Gyg1	glycogenin 1	gene	DOID:630	genetic disease		ISO	RGD:1348748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8754814	Gyg1	glycogenin 1	gene	DOID:767	muscular atrophy		ISO	RGD:1348748	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:17576681|PMID:20357282|PMID:24033266|PMID:25272951|PMID:25741868|PMID:26652229|PMID:28453664|PMID:28492532|PMID:29143313|PMID:29264399|PMID:29422440|PMID:31628455|PMID:31791869|PMID:32528171|PMID:9536098
8754814	Gyg1	glycogenin 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1348748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20357282
8754814	Gyg1	glycogenin 1	gene	DOID:9000184	Ventricular Fibrillation		ISO	RGD:1348748	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation	PMID:20357282|PMID:24033266|PMID:25272951|PMID:25741868|PMID:28453664|PMID:28492532|PMID:29143313|PMID:29264399|PMID:29422440|PMID:31628455|PMID:31791869|PMID:32528171
8754814	Gyg1	glycogenin 1	gene	DOID:9002303	Polyglucosan Body Myopathy 2		ISO	RGD:1348748	D	RGD:7240710	20180130	OMIM			
8754814	Gyg1	glycogenin 1	gene	DOID:9002303	Polyglucosan Body Myopathy 2		ISO	RGD:1348748	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY 2 | ClinVar Annotator: match by term: Polyglucosan body myopathy 2 | ClinVar Annotator: match by term: Polyglucosan body myopathy type 2	PMID:16199547|PMID:17576681|PMID:20357282|PMID:24033266|PMID:25272951|PMID:25741868|PMID:26652229|PMID:26944241|PMID:27718144|PMID:28453664|PMID:28492532|PMID:29143313|PMID:29264399|PMID:29422440|PMID:31628455|PMID:31791869|PMID:32477874|PMID:32528171|PMID:34426522|PMID:34662886|PMID:39679724|PMID:9536098
8754814	Gyg1	glycogenin 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1348748	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:17576681|PMID:20357282|PMID:24033266|PMID:25272951|PMID:25741868|PMID:26652229|PMID:28453664|PMID:28492532|PMID:29143313|PMID:29264399|PMID:29422440|PMID:31628455|PMID:31791869|PMID:32528171|PMID:9536098
8754814	Gyg1	glycogenin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348748	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:24033266|PMID:25272951|PMID:25741868|PMID:26944241|PMID:27718144|PMID:28492532|PMID:31791869|PMID:32477874|PMID:32528171|PMID:34426522|PMID:34662886|PMID:39679724
8754814	Gyg1	glycogenin 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1348748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8754814	Gyg1	glycogenin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348748	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:24033266|PMID:25272951|PMID:25741868|PMID:26944241|PMID:27718144|PMID:28492532|PMID:31791869|PMID:32477874|PMID:32528171|PMID:34426522|PMID:34662886|PMID:39679724
8754814	Gyg1	glycogenin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8754830	Cd300lb	CD300 molecule like family member b	gene	DOID:1909	melanoma		ISO	RGD:1604243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8754840	Esd	esterase D	gene	DOID:10534	stomach cancer		ISO	RGD:1354034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8754840	Esd	esterase D	gene	DOID:3275	thymoma		ISO	RGD:1354034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8754840	Esd	esterase D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754840	Esd	esterase D	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8754840	Esd	esterase D	gene	DOID:8398	osteoarthritis		ISO	RGD:1354034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8754840	Esd	esterase D	gene	DOID:9002669	Hypoxia		ISO	RGD:1354034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19579223
8754840	Esd	esterase D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754840	Esd	esterase D	gene	DOID:9256	colorectal cancer		ISO	RGD:1354034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8754851	Akna	AT-hook transcription factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754851	Akna	AT-hook transcription factor	gene	DOID:10534	stomach cancer		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8754851	Akna	AT-hook transcription factor	gene	DOID:1059	intellectual disability		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8754851	Akna	AT-hook transcription factor	gene	DOID:1115	sarcoma		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8754851	Akna	AT-hook transcription factor	gene	DOID:12849	autistic disorder		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
8754851	Akna	AT-hook transcription factor	gene	DOID:1324	lung cancer		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8754851	Akna	AT-hook transcription factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8754851	Akna	AT-hook transcription factor	gene	DOID:3275	thymoma		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8754851	Akna	AT-hook transcription factor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8754851	Akna	AT-hook transcription factor	gene	DOID:4362	cervical cancer		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8754851	Akna	AT-hook transcription factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8754851	Akna	AT-hook transcription factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1317844	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8754851	Akna	AT-hook transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754851	Akna	AT-hook transcription factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8754851	Akna	AT-hook transcription factor	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8754851	Akna	AT-hook transcription factor	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8754851	Akna	AT-hook transcription factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754851	Akna	AT-hook transcription factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8754851	Akna	AT-hook transcription factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8754851	Akna	AT-hook transcription factor	gene	DOID:9256	colorectal cancer		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8754875	Usp16	ubiquitin specific peptidase 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754875	Usp16	ubiquitin specific peptidase 16	gene	DOID:1115	sarcoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8754875	Usp16	ubiquitin specific peptidase 16	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8754875	Usp16	ubiquitin specific peptidase 16	gene	DOID:3275	thymoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8754875	Usp16	ubiquitin specific peptidase 16	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8754875	Usp16	ubiquitin specific peptidase 16	gene	DOID:4362	cervical cancer		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8754875	Usp16	ubiquitin specific peptidase 16	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8754875	Usp16	ubiquitin specific peptidase 16	gene	DOID:5041	esophageal cancer		ISO	RGD:1316236	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8754875	Usp16	ubiquitin specific peptidase 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754875	Usp16	ubiquitin specific peptidase 16	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1345110	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome	
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:1345110	D	RGD:7240710	20260729	OMIM			
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:1345110	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ENDOCRINE-CEREBROOSTEODYSPLASIA | ClinVar Annotator: match by term: Endocrine-cerebro-osteodysplasia syndrome | ClinVar Annotator: match by term: endocrine-cerebro-osteodysplasia syndrome	PMID:25741868|PMID:25741883|PMID:28492532
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:0070309	absence epilepsy		ISO	RGD:1345110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868|PMID:28492532
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:0111325	juvenile myoclonic epilepsy 10		ISO	RGD:1345110	D	RGD:7240710	20260729	OMIM			
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:0111325	juvenile myoclonic epilepsy 10		ISO	RGD:1345110	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CILK1-related condition	PMID:25741868|PMID:28492532
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:10907	microcephaly		ISO	RGD:1345110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1345110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:1826	epilepsy		ISO	RGD:1345110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:1909	melanoma		ISO	RGD:1345110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1345110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345110	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:9009315	Idiopathic Generalized Epilepsy		ISO	RGD:1345110	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 10 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy	PMID:25741868|PMID:28492532|PMID:29539279|PMID:32178256
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:9009315	Idiopathic Generalized Epilepsy		ISO	RGD:1345110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10 | ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 10	PMID:25741868|PMID:28492532|PMID:29539279|PMID:32178256|PMID:37597066
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:9009389	Cranioectodermal dysplasia 6		ISO	RGD:1345110	D	RGD:7240710	20260729	OMIM			
8754892	Cilk1	ciliogenesis associated kinase 1	gene	DOID:9009389	Cranioectodermal dysplasia 6		ISO	RGD:1345110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CRANIOECTODERMAL DYSPLASIA 6	PMID:25741868
8754916	Zmym4	zinc finger MYM-type containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8754916	Zmym4	zinc finger MYM-type containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754916	Zmym4	zinc finger MYM-type containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8754916	Zmym4	zinc finger MYM-type containing 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8754916	Zmym4	zinc finger MYM-type containing 4	gene	DOID:1115	sarcoma		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8754916	Zmym4	zinc finger MYM-type containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8754916	Zmym4	zinc finger MYM-type containing 4	gene	DOID:1909	melanoma		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8754916	Zmym4	zinc finger MYM-type containing 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8754916	Zmym4	zinc finger MYM-type containing 4	gene	DOID:3070	high grade glioma		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8754916	Zmym4	zinc finger MYM-type containing 4	gene	DOID:3275	thymoma		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8754916	Zmym4	zinc finger MYM-type containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8754916	Zmym4	zinc finger MYM-type containing 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8754916	Zmym4	zinc finger MYM-type containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1319940	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8754916	Zmym4	zinc finger MYM-type containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754916	Zmym4	zinc finger MYM-type containing 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1319940	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8754916	Zmym4	zinc finger MYM-type containing 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8754916	Zmym4	zinc finger MYM-type containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8754916	Zmym4	zinc finger MYM-type containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8754916	Zmym4	zinc finger MYM-type containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8754969	Dnajc18	DnaJ heat shock protein family (Hsp40) member C18	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8754969	Dnajc18	DnaJ heat shock protein family (Hsp40) member C18	gene	DOID:3275	thymoma		ISO	RGD:1602641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8754969	Dnajc18	DnaJ heat shock protein family (Hsp40) member C18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754969	Dnajc18	DnaJ heat shock protein family (Hsp40) member C18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8754987	Golt1b	golgi transport 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8754987	Golt1b	golgi transport 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1349948	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8754987	Golt1b	golgi transport 1B	gene	DOID:1115	sarcoma		ISO	RGD:1349948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8754987	Golt1b	golgi transport 1B	gene	DOID:1324	lung cancer		ISO	RGD:1349948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8754987	Golt1b	golgi transport 1B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8754987	Golt1b	golgi transport 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8754987	Golt1b	golgi transport 1B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8754987	Golt1b	golgi transport 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8754998	Med9	mediator complex subunit 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755004	Mvk	mevalonate kinase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:732031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:20194276|PMID:21548022|PMID:23979089|PMID:25741868|PMID:28492532|PMID:29047407
8755004	Mvk	mevalonate kinase	gene	DOID:0050452	mevalonic aciduria		ISO	RGD:732031	D	RGD:7240710	20180130	OMIM			
8755004	Mvk	mevalonate kinase	gene	DOID:0050452	mevalonic aciduria		ISO	RGD:732031	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MEVALONIC ACIDURIA | ClinVar Annotator: match by term: Mevalonate kinase deficiency | ClinVar Annotator: match by term: Mevalonic aciduria	PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:10896296|PMID:11111075|PMID:11313768|PMID:11313769|PMID:12444096|PMID:12563048|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15188372|PMID:15536479|PMID:15657603|PMID:16197847|PMID:16199547|PMID:16234278|PMID:16255052|PMID:16707534|PMID:16835861|PMID:16931207|PMID:17105862|PMID:17138829|PMID:17576681|PMID:18839211|PMID:19011501|PMID:19036780|PMID:19786432|PMID:19877056|PMID:20194276|PMID:21228398|PMID:21425920|PMID:21478439|PMID:21548022|PMID:21708801|PMID:22038276|PMID:22159817|PMID:22271696|PMID:22566169|PMID:22983302|PMID:23146290|PMID:23692791|PMID:23834120|PMID:23979089|PMID:23998246|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24531851|PMID:24551296|PMID:24561416|PMID:24656624|PMID:24716072|PMID:25677409|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26202976|PMID:26386126|PMID:26409462|PMID:26420133|PMID:26620804|PMID:26633545|PMID:26935981|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27142780|PMID:27213830|PMID:27387687|PMID:27899390|PMID:28341476|PMID:28359055|PMID:28492532|PMID:28501347|PMID:28603204|PMID:28638818|PMID:28814775|PMID:29047407|PMID:29234874|PMID:29290516|PMID:29451047|PMID:29624229|PMID:30030262|PMID:30148429|PMID:30597534|PMID:30609409|PMID:30783801|PMID:31028937|PMID:31096039|PMID:31135083|PMID:31325964|PMID:31474985|PMID:31589614|PMID:31664448|PMID:31741047|PMID:31964843|PMID:32060250|PMID:32252977|PMID:32312770|PMID:32441320|PMID:32822427|PMID:32888943|PMID:33042144|PMID:33165748|PMID:33168400|PMID:33410495|PMID:33505305|PMID:33917151|PMID:34054914|PMID:34145613|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34751146|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:35906690|PMID:35916082|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924|PMID:38983106|PMID:39052144|PMID:9536098
8755004	Mvk	mevalonate kinase	gene	DOID:0050486	exanthem		ISO	RGD:732031	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10369261
8755004	Mvk	mevalonate kinase	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28341476|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31135083|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:0060260	ptosis		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:0060743	methylmalonic acidemia cblB type		ISO	RGD:10056251	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type	PMID:23707710|PMID:28492532
8755004	Mvk	mevalonate kinase	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:0070309	absence epilepsy		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:0081450	hyperimmunoglobulinemia D periodic fever syndrome		ISO	RGD:732031	D	RGD:7240710	20240501	OMIM			
8755004	Mvk	mevalonate kinase	gene	DOID:0081450	hyperimmunoglobulinemia D periodic fever syndrome		ISO	RGD:732031	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Hyperimmunoglobulinemia D and periodic fever syndrome	PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:10896296|PMID:11111075|PMID:11313768|PMID:11313769|PMID:12387810|PMID:12444096|PMID:12563048|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15188372|PMID:15536479|PMID:15657603|PMID:15804303|PMID:16197847|PMID:16199547|PMID:16234278|PMID:16255052|PMID:16435210|PMID:16707534|PMID:16835861|PMID:17105862|PMID:17171314|PMID:17576681|PMID:18414213|PMID:18839211|PMID:18941711|PMID:19011501|PMID:19036780|PMID:19120372|PMID:19786432|PMID:19877056|PMID:20194276|PMID:21225694|PMID:21228398|PMID:21399979|PMID:21425920|PMID:21478439|PMID:21548022|PMID:21708801|PMID:22038276|PMID:22246419|PMID:22566169|PMID:22983302|PMID:23006543|PMID:23146290|PMID:23692791|PMID:23707710|PMID:23834120|PMID:23979089|PMID:23998246|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24411001|PMID:24470648|PMID:24531851|PMID:24551296|PMID:24561416|PMID:24656624|PMID:24716072|PMID:25149390|PMID:25502423|PMID:25677409|PMID:25708585|PMID:25721923|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26202976|PMID:26299986|PMID:26386126|PMID:26409462|PMID:26620804|PMID:26633545|PMID:26935981|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27142780|PMID:27213830|PMID:27387687|PMID:27899390|PMID:28095071|PMID:28359055|PMID:28492532|PMID:28501347|PMID:28638818|PMID:28814775|PMID:29047407|PMID:29290516|PMID:29451047|PMID:29599418|PMID:29624229|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31028937|PMID:31096039|PMID:31278138|PMID:31430439|PMID:31474985|PMID:3158961|PMID:31589614|PMID:31664448|PMID:31964843|PMID:32060250|PMID:32252977|PMID:32312770|PMID:32441320|PMID:32822427|PMID:32888943|PMID:33042144|PMID:33072517|PMID:33168400|PMID:33505305|PMID:33917151|PMID:34054914|PMID:34145613|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35525811|PMID:35720358|PMID:35753512|PMID:35916082|PMID:36242899|PMID:36636591|PMID:36703223|PMID:36730507|PMID:36788924|PMID:38983106|PMID:8386351|PMID:9334262|PMID:9536098
8755004	Mvk	mevalonate kinase	gene	DOID:0081450	hyperimmunoglobulinemia D periodic fever syndrome		ISO	RGD:732031	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HYPER-IgD SYNDROME | ClinVar Annotator: match by term: Hyper-IgD syndrome | ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Hyperimmunoglobulinemia D and periodic fever syndrome	PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:10896296|PMID:11313769|PMID:12444096|PMID:15536479|PMID:16835861|PMID:17105862|PMID:17138829|PMID:18941711|PMID:19011501|PMID:19786432|PMID:20194276|PMID:21425920|PMID:22038276|PMID:22983302|PMID:23692791|PMID:23834120|PMID:23979089|PMID:24470648|PMID:24531851|PMID:24716072|PMID:25741868|PMID:26116953|PMID:26202976|PMID:27142780|PMID:27213830|PMID:28341476|PMID:28492532|PMID:28501347|PMID:28638818|PMID:29047407|PMID:31135083|PMID:32060250|PMID:34145613
8755004	Mvk	mevalonate kinase	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:0111664	ectodermal dysplasia 1		ISO	RGD:732031	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic	PMID:25741868
8755004	Mvk	mevalonate kinase	gene	DOID:10579	leukodystrophy		ISO	RGD:732031	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:11313769|PMID:22566169|PMID:22983302|PMID:25741868|PMID:26202976|PMID:28492532|PMID:33168400
8755004	Mvk	mevalonate kinase	gene	DOID:10907	microcephaly		ISO	RGD:732031	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:11313769|PMID:22566169|PMID:22983302|PMID:25741868|PMID:26202976|PMID:28492532|PMID:33168400
8755004	Mvk	mevalonate kinase	gene	DOID:1115	sarcoma		ISO	RGD:732031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8755004	Mvk	mevalonate kinase	gene	DOID:12849	autistic disorder		ISO	RGD:732031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:16835861|PMID:25677409|PMID:25741868|PMID:26986117|PMID:27012807|PMID:27387687|PMID:28492532|PMID:29047407|PMID:29451047|PMID:29624229|PMID:32441320|PMID:32822427|PMID:33505305
8755004	Mvk	mevalonate kinase	gene	DOID:1459	hypothyroidism		ISO	RGD:732031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868|PMID:28341476|PMID:28492532|PMID:31135083
8755004	Mvk	mevalonate kinase	gene	DOID:1826	epilepsy		ISO	RGD:732031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:20194276|PMID:21548022|PMID:23979089|PMID:25741868|PMID:28492532|PMID:29047407
8755004	Mvk	mevalonate kinase	gene	DOID:1891	optic nerve disease		ISO	RGD:732031	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:11313769|PMID:22566169|PMID:22983302|PMID:25741868|PMID:26202976|PMID:28492532|PMID:33168400
8755004	Mvk	mevalonate kinase	gene	DOID:1909	melanoma		ISO	RGD:732031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8755004	Mvk	mevalonate kinase	gene	DOID:2030	anxiety disorder		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8755004	Mvk	mevalonate kinase	gene	DOID:2914	immune system disease		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Abnormality of immune system physiology	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:732031	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:11111075|PMID:11313769|PMID:12444096|PMID:12634869|PMID:1377680|PMID:15536479|PMID:16255052|PMID:16835861|PMID:17105862|PMID:18414213|PMID:19011501|PMID:21228398|PMID:21425920|PMID:22038276|PMID:22246419|PMID:23006543|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24411001|PMID:24470648|PMID:24561416|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26299986|PMID:26633545|PMID:26977311|PMID:26986117|PMID:27142780|PMID:27213830|PMID:28359055|PMID:28492532|PMID:32822427|PMID:33917151|PMID:35387795
8755004	Mvk	mevalonate kinase	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:732031	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:11111075|PMID:11313769|PMID:12444096|PMID:12634869|PMID:1377680|PMID:15149516|PMID:15188372|PMID:15536479|PMID:16255052|PMID:16835861|PMID:17105862|PMID:18414213|PMID:18839211|PMID:19011501|PMID:20194276|PMID:21228398|PMID:21425920|PMID:22038276|PMID:22246419|PMID:23006543|PMID:23692791|PMID:23834120|PMID:23979089|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24411001|PMID:24470648|PMID:24561416|PMID:24656624|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26299986|PMID:26409462|PMID:26633545|PMID:26977311|PMID:26986117|PMID:27142780|PMID:27213830|PMID:28359055|PMID:28492532|PMID:28638818|PMID:29047407|PMID:29290516|PMID:31474985|PMID:32060250|PMID:32822427|PMID:33917151|PMID:34145613|PMID:35387795
8755004	Mvk	mevalonate kinase	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:732031	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:10896296|PMID:11111075|PMID:11313769|PMID:12444096|PMID:12634869|PMID:15149516|PMID:15188372|PMID:15536479|PMID:16234278|PMID:16255052|PMID:16835861|PMID:17105862|PMID:18414213|PMID:18839211|PMID:19011501|PMID:20194276|PMID:21228398|PMID:21425920|PMID:21630610|PMID:22038276|PMID:22246419|PMID:23006543|PMID:23692791|PMID:23834120|PMID:23979089|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24411001|PMID:24470648|PMID:24561416|PMID:24656624|PMID:25677409|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26299986|PMID:26409462|PMID:26633545|PMID:26977311|PMID:26986117|PMID:27012807|PMID:27142780|PMID:27213830|PMID:27387687|PMID:27612399|PMID:28359055|PMID:28492532|PMID:28638818|PMID:29047407|PMID:29290516|PMID:29624229|PMID:30597534|PMID:31474985|PMID:32060250|PMID:32199921|PMID:32441320|PMID:32822427|PMID:33917151|PMID:34145613|PMID:34525209|PMID:34809655|PMID:35387795
8755004	Mvk	mevalonate kinase	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:732031	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:10369261|PMID:10369262|PMID:10401001|PMID:10896296|PMID:11111075|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15188372|PMID:15536479|PMID:15657603|PMID:16255052|PMID:16835861|PMID:17105862|PMID:18839211|PMID:19786432|PMID:20194276|PMID:21228398|PMID:21630610|PMID:22038276|PMID:23692791|PMID:23834120|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24656624|PMID:24716072|PMID:25677409|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27387687|PMID:27899390|PMID:28492532|PMID:28638818|PMID:29047407|PMID:29290516|PMID:29451047|PMID:29624229|PMID:30030262|PMID:30148429|PMID:30597534|PMID:30609409|PMID:30783801|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32199921|PMID:32441320|PMID:32822427|PMID:32888943|PMID:33505305|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:3144	cutis laxa		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:3146	lipid metabolism disorder		ISO	RGD:732031	D	RGD:9068941	20200609	RGD		mevalonic aciduria, OMIM:610377, DNA:point mutation:exon:N301T	PMID:1377680|REF_RGD_ID:1600528
8755004	Mvk	mevalonate kinase	gene	DOID:4362	cervical cancer		ISO	RGD:732031	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8755004	Mvk	mevalonate kinase	gene	DOID:540	strabismus		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:543	dystonia		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:5679	retinal disease		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:16835861|PMID:25741868|PMID:26986117|PMID:28492532|PMID:29047407|PMID:32822427
8755004	Mvk	mevalonate kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732031	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755004	Mvk	mevalonate kinase	gene	DOID:630	genetic disease		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732031	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21147110
8755004	Mvk	mevalonate kinase	gene	DOID:83	cataract		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:8501	fundus dystrophy		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313768|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15457465|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:19786432|PMID:21228398|PMID:21708801|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28341476|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31135083|PMID:31278138|PMID:31474985|PMID:3158961|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:9000408	Porokeratosis 3, Multiple Types		ISO	RGD:732031	D	RGD:7240710	20180130	OMIM			
8755004	Mvk	mevalonate kinase	gene	DOID:9000408	Porokeratosis 3, Multiple Types		ISO	RGD:732031	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: POROKERATOSIS 3, MULTIPLE TYPES | ClinVar Annotator: match by term: POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1	PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:10896296|PMID:11111075|PMID:11313768|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15188372|PMID:15536479|PMID:15657603|PMID:16197847|PMID:16234278|PMID:16255052|PMID:16707534|PMID:16835861|PMID:17105862|PMID:17138829|PMID:17576681|PMID:18839211|PMID:19011501|PMID:19036780|PMID:19786432|PMID:19877056|PMID:20194276|PMID:21228398|PMID:21425920|PMID:21478439|PMID:21548022|PMID:21708801|PMID:22038276|PMID:22566169|PMID:22983302|PMID:23146290|PMID:23692791|PMID:23834120|PMID:23979089|PMID:23998246|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24531851|PMID:24551296|PMID:24561416|PMID:24656624|PMID:24716072|PMID:25677409|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26202976|PMID:26386126|PMID:26409462|PMID:26620804|PMID:26633545|PMID:26935981|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27142780|PMID:27213830|PMID:27387687|PMID:27899390|PMID:28341476|PMID:28492532|PMID:28638818|PMID:28814775|PMID:29047407|PMID:29290516|PMID:29451047|PMID:29624229|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31096039|PMID:31135083|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32252977|PMID:32312770|PMID:32441320|PMID:32822427|PMID:32888943|PMID:33042144|PMID:33168400|PMID:33505305|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924|PMID:38983106|PMID:39052144|PMID:9536098
8755004	Mvk	mevalonate kinase	gene	DOID:9000972	Fever		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Fever	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28341476|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31135083|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:9001581	Constipation		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:9002805	Enterocolitis		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Enterocolitis	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:9004538	Hearing Loss		ISO	RGD:732031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28341476|PMID:28492532|PMID:31135083
8755004	Mvk	mevalonate kinase	gene	DOID:9004920	Porokeratosis, Disseminated Superficial Actinic, 3		ISO	RGD:732031	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Porokeratosis 5, disseminated superficial actinic type	
8755004	Mvk	mevalonate kinase	gene	DOID:9005077	Joint Instability		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:9005372	Inflammation		ISO	RGD:732031	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24073415
8755004	Mvk	mevalonate kinase	gene	DOID:9005734	Abdominal Pain		ISO	RGD:732031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:16197847|PMID:16835861|PMID:21708801|PMID:25741868|PMID:27012807|PMID:28492532|PMID:28814775|PMID:31096039|PMID:32822427
8755004	Mvk	mevalonate kinase	gene	DOID:9006065	Arthralgia		ISO	RGD:732031	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10369261
8755004	Mvk	mevalonate kinase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:732031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532|PMID:38983106
8755004	Mvk	mevalonate kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8755004	Mvk	mevalonate kinase	gene	DOID:9007105	Hyperemesis Gravidarum		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hyperemesis gravidarum	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:9007573	Flatfoot		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:9007661	Dwarfism		ISO	RGD:732031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:20194276|PMID:21548022|PMID:23979089|PMID:25741868|PMID:28492532|PMID:29047407
8755004	Mvk	mevalonate kinase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:22566169|PMID:22983302|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26202976|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28341476|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31135083|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33168400|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755004	Mvk	mevalonate kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8755004	Mvk	mevalonate kinase	gene	DOID:9970	obesity		ISO	RGD:732031	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:10369261|PMID:10369262|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:13130485|PMID:15149516|PMID:15536479|PMID:15657603|PMID:17105862|PMID:18839211|PMID:21228398|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:24716072|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26620804|PMID:26633545|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27213830|PMID:27899390|PMID:28492532|PMID:28638818|PMID:29290516|PMID:30030262|PMID:30148429|PMID:30609409|PMID:30783801|PMID:31474985|PMID:31589614|PMID:31664448|PMID:32822427|PMID:32888943|PMID:33917151|PMID:34054914|PMID:34426522|PMID:34525209|PMID:34573280|PMID:34809655|PMID:35387795|PMID:35418827|PMID:35720358|PMID:35753512|PMID:36242899|PMID:36703223|PMID:36730507|PMID:36788924
8755022	Arhgap10	Rho GTPase activating protein 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8755022	Arhgap10	Rho GTPase activating protein 10	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1322908	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
8755022	Arhgap10	Rho GTPase activating protein 10	gene	DOID:10534	stomach cancer		ISO	RGD:1322908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8755022	Arhgap10	Rho GTPase activating protein 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8755022	Arhgap10	Rho GTPase activating protein 10	gene	DOID:1115	sarcoma		ISO	RGD:1322908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8755022	Arhgap10	Rho GTPase activating protein 10	gene	DOID:1324	lung cancer		ISO	RGD:1322908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8755022	Arhgap10	Rho GTPase activating protein 10	gene	DOID:1909	melanoma		ISO	RGD:1322908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8755022	Arhgap10	Rho GTPase activating protein 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8755022	Arhgap10	Rho GTPase activating protein 10	gene	DOID:4362	cervical cancer		ISO	RGD:1322908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8755022	Arhgap10	Rho GTPase activating protein 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8755022	Arhgap10	Rho GTPase activating protein 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1322908	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8755022	Arhgap10	Rho GTPase activating protein 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755022	Arhgap10	Rho GTPase activating protein 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8755022	Arhgap10	Rho GTPase activating protein 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8755049	Lcn6	lipocalin 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8755049	Lcn6	lipocalin 6	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1349815	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
8755049	Lcn6	lipocalin 6	gene	DOID:10534	stomach cancer		ISO	RGD:1349815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8755049	Lcn6	lipocalin 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8755049	Lcn6	lipocalin 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	
8755077	Rpap3	RNA polymerase II associated protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8755077	Rpap3	RNA polymerase II associated protein 3	gene	DOID:3275	thymoma		ISO	RGD:1603005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8755077	Rpap3	RNA polymerase II associated protein 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8755077	Rpap3	RNA polymerase II associated protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1603005	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8755077	Rpap3	RNA polymerase II associated protein 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8755077	Rpap3	RNA polymerase II associated protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755077	Rpap3	RNA polymerase II associated protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8755077	Rpap3	RNA polymerase II associated protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8755077	Rpap3	RNA polymerase II associated protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8755096	Ccdc183	coiled-coil domain containing 183	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1350546	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
8755113	Knl1	kinetochore scaffold 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8755113	Knl1	kinetochore scaffold 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8755113	Knl1	kinetochore scaffold 1	gene	DOID:0070291	primary autosomal recessive microcephaly 4		ISO	RGD:1603976	D	RGD:7240710	20180130	OMIM			
8755113	Knl1	kinetochore scaffold 1	gene	DOID:0070291	primary autosomal recessive microcephaly 4		ISO	RGD:1603976	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KNL1-related condition | ClinVar Annotator: match by term: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 4, primary, autosomal recessive	PMID:18414213|PMID:22983954|PMID:25741868|PMID:28492532
8755113	Knl1	kinetochore scaffold 1	gene	DOID:0070296	autosomal recessive primary microcephaly		ISO	RGD:1603976	D	RGD:9068941	20200609	RGD		DNA:mutation:cds: c.6125 G>A,p. M2041I(human)	PMID:22983954|REF_RGD_ID:9685043
8755113	Knl1	kinetochore scaffold 1	gene	DOID:0080600	COVID-19		ISO	RGD:1603976	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8755113	Knl1	kinetochore scaffold 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
8755113	Knl1	kinetochore scaffold 1	gene	DOID:10907	microcephaly		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8755113	Knl1	kinetochore scaffold 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8755113	Knl1	kinetochore scaffold 1	gene	DOID:1115	sarcoma		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8755113	Knl1	kinetochore scaffold 1	gene	DOID:1115	sarcoma	treatment	ISO	RGD:1603976	D	RGD:9068941	20220303	RGD			PMID:31089155|REF_RGD_ID:151660332
8755113	Knl1	kinetochore scaffold 1	gene	DOID:1324	lung cancer		ISO	RGD:1603976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8755113	Knl1	kinetochore scaffold 1	gene	DOID:1909	melanoma		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8755113	Knl1	kinetochore scaffold 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8755113	Knl1	kinetochore scaffold 1	gene	DOID:3275	thymoma		ISO	RGD:1603976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8755113	Knl1	kinetochore scaffold 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8755113	Knl1	kinetochore scaffold 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755113	Knl1	kinetochore scaffold 1	gene	DOID:630	genetic disease		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:25741868
8755113	Knl1	kinetochore scaffold 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8755113	Knl1	kinetochore scaffold 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603976	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
8755113	Knl1	kinetochore scaffold 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8755113	Knl1	kinetochore scaffold 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
8755113	Knl1	kinetochore scaffold 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8755165	Lrrc2	leucine rich repeat containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8755165	Lrrc2	leucine rich repeat containing 2	gene	DOID:1909	melanoma		ISO	RGD:1323318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8755165	Lrrc2	leucine rich repeat containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8755165	Lrrc2	leucine rich repeat containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8755165	Lrrc2	leucine rich repeat containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8755165	Lrrc2	leucine rich repeat containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1323318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8755182	Pex13	peroxisomal biogenesis factor 13	gene	DOID:0050444	infantile Refsum disease		ISO	RGD:1321726	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL	PMID:10332040|PMID:10441568|PMID:16006427|PMID:21031596|PMID:25741868|PMID:27827795|PMID:28492532
8755182	Pex13	peroxisomal biogenesis factor 13	gene	DOID:0080377	peroxisomal biogenesis disorder		ISO	RGD:1321726	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10332040|PMID:10441568|PMID:19449432
8755182	Pex13	peroxisomal biogenesis factor 13	gene	DOID:0080479	peroxisome biogenesis disorder 4A		ISO	RGD:1321726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4A (Zellweger)	
8755182	Pex13	peroxisomal biogenesis factor 13	gene	DOID:0080485	peroxisome biogenesis disorder 11A		ISO	RGD:1321726	D	RGD:7240710	20180130	OMIM			
8755182	Pex13	peroxisomal biogenesis factor 13	gene	DOID:0080485	peroxisome biogenesis disorder 11A		ISO	RGD:1321726	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) | ClinVar Annotator: match by term: PEX13-related disorder | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger)	PMID:10332040|PMID:10441568|PMID:16006427|PMID:16199547|PMID:17041890|PMID:17576681|PMID:21031596|PMID:23716570|PMID:25741868|PMID:27827795|PMID:28492532|PMID:33190326|PMID:35854306|PMID:37962062|PMID:9536098
8755182	Pex13	peroxisomal biogenesis factor 13	gene	DOID:0081439	Peroxisome biogenesis disorder 11B		ISO	RGD:1321726	D	RGD:7240710	20180130	OMIM			
8755182	Pex13	peroxisomal biogenesis factor 13	gene	DOID:0081439	Peroxisome biogenesis disorder 11B		ISO	RGD:1321726	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 11B | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11B	PMID:10332040|PMID:10441568|PMID:16006427|PMID:21031596|PMID:25741868|PMID:27827795|PMID:28492532
8755182	Pex13	peroxisomal biogenesis factor 13	gene	DOID:10534	stomach cancer		ISO	RGD:1321726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8755182	Pex13	peroxisomal biogenesis factor 13	gene	DOID:10588	adrenoleukodystrophy		ISO	RGD:1321726	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10441568
8755182	Pex13	peroxisomal biogenesis factor 13	gene	DOID:3070	high grade glioma		ISO	RGD:1321726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8755182	Pex13	peroxisomal biogenesis factor 13	gene	DOID:3275	thymoma		ISO	RGD:1321726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8755182	Pex13	peroxisomal biogenesis factor 13	gene	DOID:4362	cervical cancer		ISO	RGD:1321726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8755182	Pex13	peroxisomal biogenesis factor 13	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8755182	Pex13	peroxisomal biogenesis factor 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755182	Pex13	peroxisomal biogenesis factor 13	gene	DOID:630	genetic disease		ISO	RGD:1321726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8755182	Pex13	peroxisomal biogenesis factor 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8755182	Pex13	peroxisomal biogenesis factor 13	gene	DOID:905	Zellweger syndrome		ISO	RGD:1321726	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum	PMID:10332040|PMID:10441568|PMID:16006427|PMID:21031596|PMID:25741868|PMID:27827795|PMID:28492532|PMID:33190326|PMID:35854306|PMID:37962062|PMID:9480815
8755182	Pex13	peroxisomal biogenesis factor 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8755190	Hoxc12	homeobox C12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8755190	Hoxc12	homeobox C12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8755196	Phf21b	PHD finger protein 21B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8755196	Phf21b	PHD finger protein 21B	gene	DOID:1115	sarcoma		ISO	RGD:1344183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8755196	Phf21b	PHD finger protein 21B	gene	DOID:1909	melanoma		ISO	RGD:1344183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8755196	Phf21b	PHD finger protein 21B	gene	DOID:4362	cervical cancer		ISO	RGD:1344183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8755196	Phf21b	PHD finger protein 21B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:10126	keratoconus		ISO	RGD:736080	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Keratoconus	
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:10534	stomach cancer		ISO	RGD:736080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:1115	sarcoma		ISO	RGD:736080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:1324	lung cancer		ISO	RGD:736080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:1909	melanoma		ISO	RGD:736080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:736080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:3275	thymoma		ISO	RGD:736080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:736080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:4362	cervical cancer		ISO	RGD:736080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:736080	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736080	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8755219	Col5a3	collagen type V alpha 3 chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8755299	Gli1	GLI family zinc finger 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8755299	Gli1	GLI family zinc finger 1	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1344225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625222
8755299	Gli1	GLI family zinc finger 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8755299	Gli1	GLI family zinc finger 1	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:621673	D	RGD:9068941	20211105	RGD			PMID:30537251|REF_RGD_ID:150520178
8755299	Gli1	GLI family zinc finger 1	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1344225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23867347
8755299	Gli1	GLI family zinc finger 1	gene	DOID:0060987	preaxial polydactyly I		ISO	RGD:1344225	D	RGD:7240710	20190529	OMIM			
8755299	Gli1	GLI family zinc finger 1	gene	DOID:0060987	preaxial polydactyly I		ISO	RGD:1344225	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FROMONT ANOMALY	PMID:25741868
8755299	Gli1	GLI family zinc finger 1	gene	DOID:0080016	spina bifida		ISO	RGD:1344225	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:26446020|REF_RGD_ID:12801432
8755299	Gli1	GLI family zinc finger 1	gene	DOID:0080600	COVID-19		ISO	RGD:1344225	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8755299	Gli1	GLI family zinc finger 1	gene	DOID:10283	prostate cancer		ISO	RGD:1344225	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8755299	Gli1	GLI family zinc finger 1	gene	DOID:10283	prostate cancer		ISO	RGD:1344225	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8755299	Gli1	GLI family zinc finger 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8755299	Gli1	GLI family zinc finger 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8755299	Gli1	GLI family zinc finger 1	gene	DOID:1324	lung cancer		ISO	RGD:1344225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8755299	Gli1	GLI family zinc finger 1	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1344225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25741868|PMID:30620395
8755299	Gli1	GLI family zinc finger 1	gene	DOID:1909	melanoma		ISO	RGD:1344225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8755299	Gli1	GLI family zinc finger 1	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1344225	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Bardet Biedl syndrome	PMID:29127258
8755299	Gli1	GLI family zinc finger 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1344225	D	RGD:9068941	20200609	RGD			PMID:18991353|REF_RGD_ID:12801440
8755299	Gli1	GLI family zinc finger 1	gene	DOID:2512	nevoid basal cell carcinoma syndrome		ISO	RGD:1344225	D	RGD:9068941	20200609	RGD			PMID:15308259|REF_RGD_ID:12801443
8755299	Gli1	GLI family zinc finger 1	gene	DOID:3121	gallbladder cancer	disease_progression	ISO	RGD:1344225	D	RGD:9068941	20220210	RGD		DNA:SNP::rs2228226(human)	PMID:26715268|REF_RGD_ID:151356500
8755299	Gli1	GLI family zinc finger 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8755299	Gli1	GLI family zinc finger 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8755299	Gli1	GLI family zinc finger 1	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1344225	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
8755299	Gli1	GLI family zinc finger 1	gene	DOID:5593	gastric papillary adenocarcinoma		ISO	RGD:1344225	D	RGD:9068941	20210813	RGD		protein:increased expression:stomach	PMID:17259107|REF_RGD_ID:150340552
8755299	Gli1	GLI family zinc finger 1	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1344225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864405
8755299	Gli1	GLI family zinc finger 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755299	Gli1	GLI family zinc finger 1	gene	DOID:6595	gastric tubular adenocarcinoma		ISO	RGD:1344225	D	RGD:9068941	20210813	RGD		protein:increased expression:stomach	PMID:17259107|REF_RGD_ID:150340552
8755299	Gli1	GLI family zinc finger 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8755299	Gli1	GLI family zinc finger 1	gene	DOID:9000392	Fluoride Poisoning		ISO	RGD:621673	D	RGD:9068941	20200609	RGD			PMID:25623978|REF_RGD_ID:12879410
8755299	Gli1	GLI family zinc finger 1	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:621673	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain	PMID:23933201|REF_RGD_ID:12859044
8755299	Gli1	GLI family zinc finger 1	gene	DOID:9001044	Choroidal Neovascularization	treatment	ISO	RGD:621673	D	RGD:9068941	20221201	RGD			PMID:21063852|REF_RGD_ID:12859045
8755299	Gli1	GLI family zinc finger 1	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:621673	D	RGD:9068941	20200609	RGD			PMID:25821409|REF_RGD_ID:12879456
8755299	Gli1	GLI family zinc finger 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1550011	D	RGD:9068941	20200609	RGD			PMID:18991353|REF_RGD_ID:12801440
8755299	Gli1	GLI family zinc finger 1	gene	DOID:9005729	Chronic Experimental Pancreatitis		ISO	RGD:621673	D	RGD:9068941	20200609	RGD			PMID:24782623|REF_RGD_ID:12879405
8755299	Gli1	GLI family zinc finger 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8755299	Gli1	GLI family zinc finger 1	gene	DOID:9008857	Postaxial Polydactyly, Type A8		ISO	RGD:1344225	D	RGD:7240710	20190315	OMIM			
8755299	Gli1	GLI family zinc finger 1	gene	DOID:9008857	Postaxial Polydactyly, Type A8		ISO	RGD:1344225	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLI1-related disorder | ClinVar Annotator: match by term: POLYDACTYLY, POSTAXIAL, TYPE A8 | ClinVar Annotator: match by term: Polydactyly, postaxial, type A8	PMID:25741868|PMID:28492532|PMID:30620395
8755299	Gli1	GLI family zinc finger 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8755299	Gli1	GLI family zinc finger 1	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1344225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
8755299	Gli1	GLI family zinc finger 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1344225	D	RGD:9068941	20211105	RGD			PMID:22901214|REF_RGD_ID:150520174
8755299	Gli1	GLI family zinc finger 1	gene	DOID:9282	ocular hypertension		ISO	RGD:621673	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:retinal ganglion cell	PMID:20071678|REF_RGD_ID:2324982
8755326	Hspa12b	heat shock protein family A (Hsp70) member 12B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8755326	Hspa12b	heat shock protein family A (Hsp70) member 12B	gene	DOID:10534	stomach cancer		ISO	RGD:1323758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8755326	Hspa12b	heat shock protein family A (Hsp70) member 12B	gene	DOID:1115	sarcoma		ISO	RGD:1323758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8755326	Hspa12b	heat shock protein family A (Hsp70) member 12B	gene	DOID:11396	pulmonary edema		ISO	RGD:1323758	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: therapeutic	PMID:38901789
8755326	Hspa12b	heat shock protein family A (Hsp70) member 12B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755326	Hspa12b	heat shock protein family A (Hsp70) member 12B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8755326	Hspa12b	heat shock protein family A (Hsp70) member 12B	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1323758	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: therapeutic	PMID:38901789
8755348	IGF1R	insulin like growth factor 1 receptor	gene	DOID:12217	Lewy body dementia		ISO	RGD:68997	D	RGD:9068941	20200609	RGD			PMID:19276553|REF_RGD_ID:5129515
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:0050581	brachydactyly		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:2869	D	RGD:9068941	20200609	RGD		protein:decreased activity:cerebellum (rat)	PMID:16909201|REF_RGD_ID:12904886
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:0050700	cardiomyopathy		ISO	RGD:2869	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA:increased expression:myocardium	PMID:17686258|REF_RGD_ID:2311503
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:0050782	Zollinger-Ellison syndrome		ISO	RGD:68997	D	RGD:9068941	20200609	RGD		mRNA and protein: increased expression::poor prognosis for high expression	PMID:15867218|REF_RGD_ID:7242847
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:0051061	stroke		ISO	RGD:68997	D	RGD:9068941	20200609	RGD		DNA: SNP: : rs2229765	PMID:18477064|REF_RGD_ID:5686435
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:0060224	atrial fibrillation		ISO	RGD:68997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:0060230	basal ganglia calcification		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Basal ganglia calcification	PMID:25741868|PMID:30848790
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:68997	D	RGD:9068941	20221103	CTD		CTD Direct Evidence: marker/mechanism	PMID:35568132
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	susceptibility	ISO	RGD:2869	D	RGD:9068941	20200609	RGD		associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat)	PMID:24275070|REF_RGD_ID:12904726
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:10126	keratoconus		ISO	RGD:68997	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Keratoconus	
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:68997	D	RGD:9068941	20200609	RGD			PMID:28972962|REF_RGD_ID:13504752
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:10286	prostate carcinoma		ISO	RGD:2869	D	RGD:9068941	20200609	RGD			PMID:18079205|REF_RGD_ID:13504770
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:1059	intellectual disability		ISO	RGD:68997	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:10603	glucose intolerance		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glucose intolerance	
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10766	D	RGD:9068941	20200609	RGD			PMID:19487308|REF_RGD_ID:10045878
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10766	D	RGD:9068941	20200609	RGD		DNA: haploinsufficiency:: full knockout dies at birth	PMID:20409077|REF_RGD_ID:5686420
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10766	D	RGD:9068941	20200609	RGD		protein:increased expression: cerebral cortex:	PMID:18479783|REF_RGD_ID:10045894
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:2869	D	RGD:9068941	20200609	RGD			PMID:16274856|REF_RGD_ID:10045879
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:68997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15750215
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:10652	Alzheimer's disease	severity	ISO	RGD:10766	D	RGD:9068941	20200609	RGD			PMID:16274856|REF_RGD_ID:10045879
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:10652	Alzheimer's disease	severity	ISO	RGD:68997	D	RGD:9068941	20200609	RGD		protein:increased expression:temporal cortex:	PMID:18479783|REF_RGD_ID:10045894
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:2869	D	RGD:9068941	20200609	RGD			PMID:23562514|REF_RGD_ID:12904921
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:10763	hypertension		ISO	RGD:2869	D	RGD:9068941	20200609	RGD		protein:increased expression:aorta:	PMID:21854769|REF_RGD_ID:10046007
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:10873	Kuhnt-Junius degeneration		ISO	RGD:68997	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:endothelial cell:	PMID:12714661|REF_RGD_ID:10045893
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:10907	microcephaly		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:22309212|PMID:25741868|PMID:28492532|PMID:30848790
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:11044	gastroschisis		ISO	RGD:2869	D	RGD:9068941	20200609	RGD		protein:increased expression:liver, intestine (rat)	PMID:23381816|REF_RGD_ID:12904922
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:11132	prostatic hypertrophy		ISO	RGD:68997	D	RGD:9068941	20200609	RGD		mRNA: increased expression: prostate	PMID:9215294|REF_RGD_ID:7242915
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:11162	respiratory failure		ISO	RGD:68997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20620343
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:11383	cryptorchidism		ISO	RGD:2869	D	RGD:9068941	20200609	RGD		protein:decreased expression:testis (rat)	PMID:7473418|REF_RGD_ID:12904727
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:11476	osteoporosis		ISO	RGD:68997	D	RGD:9068941	20200609	RGD			PMID:18079194|REF_RGD_ID:10045888
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:11695	portal vein thrombosis	susceptibility	ISO	RGD:68997	D	RGD:9068941	20200609	RGD		associated with hepatocellular carcinoma;DNA:SNP:3'UTR:rs3743251(human)	PMID:24758241|REF_RGD_ID:14985227
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:11714	gestational diabetes		ISO	RGD:2869	D	RGD:9068941	20200609	RGD			PMID:22241286|REF_RGD_ID:10046048
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:11782	astigmatism		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:68997	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus;protein:decreased expression:placenta	PMID:16750336|REF_RGD_ID:2311505
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:12217	Lewy body dementia		ISO	RGD:68997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276553
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:12361	Graves' disease		ISO	RGD:68997	D	RGD:9068941	20200609	RGD		protein: increased expression: blood: T cells and B cells	PMID:18832736|REF_RGD_ID:5686433
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:12849	autistic disorder		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:12858	Huntington's disease		ISO	RGD:10766	D	RGD:9068941	20200609	RGD			PMID:25140802|REF_RGD_ID:10045870
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:1307	dementia		ISO	RGD:68997	D	RGD:9068941	20200609	RGD			PMID:16983186|REF_RGD_ID:10045873
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:1324	lung cancer		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:14183	alcoholic neuropathy		ISO	RGD:2869	D	RGD:9068941	20200609	RGD			PMID:23016131|REF_RGD_ID:10402569
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:14330	Parkinson's disease		ISO	RGD:2869	D	RGD:9068941	20200609	RGD		protein: altered activity	PMID:19703168|REF_RGD_ID:5686429
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:14330	Parkinson's disease		ISO	RGD:68997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276553
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:14330	Parkinson's disease		ISO	RGD:68997	D	RGD:9068941	20200609	RGD		mRNA:altered expression:brain:	PMID:19276553|REF_RGD_ID:5129515
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:1612	breast cancer		ISO	RGD:68997	D	RGD:9068941	20200609	RGD		protein: increased expression	PMID:21047775|REF_RGD_ID:7242794
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:1682	congenital heart disease		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:1793	pancreatic cancer		ISO	RGD:68997	D	RGD:9068941	20200609	RGD			PMID:14559833|PMID:19732452|PMID:19885860|REF_RGD_ID:2317640|REF_RGD_ID:2317642|REF_RGD_ID:2317651
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:1909	melanoma		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:2154	nephroblastoma		ISO	RGD:68997	D	RGD:9068941	20200609	RGD			PMID:22529373|REF_RGD_ID:7242789
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:2154	nephroblastoma		ISO	RGD:68997	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney (human)	PMID:8390684|REF_RGD_ID:12904709
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:2154	nephroblastoma	treatment	ISO	RGD:68997	D	RGD:9068941	20200609	RGD		human cells in a mouse model	PMID:8390684|REF_RGD_ID:12904709
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:2340	craniosynostosis		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:25741868|PMID:31837199
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:2526	prostate adenocarcinoma	disease_progression	ISO	RGD:10766	D	RGD:9068941	20200609	RGD			PMID:25442907|REF_RGD_ID:13504768
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:2526	prostate adenocarcinoma	treatment	ISO	RGD:2869	D	RGD:9068941	20200609	RGD			PMID:8692980|REF_RGD_ID:13504771
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:2526	prostate adenocarcinoma	treatment	ISO	RGD:68997	D	RGD:9068941	20200609	RGD			PMID:25862373|PMID:26452103|REF_RGD_ID:13504753|REF_RGD_ID:13504767
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:68997	D	RGD:9068941	20200609	RGD		DNA: snp::rs2229765	PMID:21047277|REF_RGD_ID:7242795
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:3021	acute kidney failure		ISO	RGD:2869	D	RGD:9068941	20200609	RGD		mRNA: decreased expression: kidney: both cortex and medulla	PMID:9767523|REF_RGD_ID:7242908
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:3070	high grade glioma		ISO	RGD:68997	D	RGD:9068941	20200609	RGD		DNA: SNP: : rs2272037 or rs2016347	PMID:18562769|REF_RGD_ID:5686434
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:3275	thymoma		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:332	amyotrophic lateral sclerosis	onset	ISO	RGD:2869	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:spinal cord (rat)	PMID:18683239|REF_RGD_ID:12904708
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:68997	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:14506643|PMID:14627343|REF_RGD_ID:2317649|REF_RGD_ID:2317652
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:3602	toxic encephalopathy		ISO	RGD:68997	D	RGD:9068941	20200609	RGD		DNA: snp: intron: rs1879612: bortezomib induced	PMID:20864405|REF_RGD_ID:5686413
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:68997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20620343|PMID:21433279
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:68997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22407999
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:4248	coronary stenosis		ISO	RGD:2869	D	RGD:9068941	20200609	RGD		mRNA:increased expression:myocyte:	PMID:8102103|REF_RGD_ID:10046053
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:4362	cervical cancer		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:4450	renal cell carcinoma		ISO	RGD:2869	D	RGD:9068941	20200609	RGD			PMID:17952403|REF_RGD_ID:7242846
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:68997	D	RGD:9068941	20200609	RGD		xenograph of human clear cell renal cancer cells in mouse	PMID:19509240|REF_RGD_ID:7242921
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:4702	mongolian spot		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	PMID:25741868|PMID:30848790
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:68997	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:5082	liver cirrhosis	susceptibility	ISO	RGD:68997	D	RGD:9068941	20200609	RGD		associated with Hepatis B virus;DNA:SNP:3'UTR:rs3743251(human)	PMID:24758241|REF_RGD_ID:14985227
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:5577	gastrinoma		ISO	RGD:68997	D	RGD:9068941	20200609	RGD		mRNA and protein: increased expression::poor prognosis for high expression	PMID:15867218|REF_RGD_ID:7242847
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:574	peripheral nervous system disease		ISO	RGD:68997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864405
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:5844	myocardial infarction		ISO	RGD:2869	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:myocyte:	PMID:8682060|REF_RGD_ID:10046050
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:630	genetic disease		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:14657428|PMID:19240156|PMID:21204214|PMID:21396585|PMID:23073384|PMID:25741868|PMID:28492532|PMID:30848790
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:68997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17441810|PMID:23958494
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:68997	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype: :	PMID:24758241|REF_RGD_ID:14985227
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:769	neuroblastoma		ISO	RGD:68997	D	RGD:9068941	20200609	RGD		protein: decreased tyrosine phosphorylation: : Y1131	PMID:17121898|REF_RGD_ID:7242922
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:7998	hyperthyroidism		ISO	RGD:2869	D	RGD:9068941	20200609	RGD		protein:increased expression:myocardium	PMID:17447016|REF_RGD_ID:2311524
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:8398	osteoarthritis	severity	ISO	RGD:68997	D	RGD:9068941	20200609	RGD		mRNA:increased expression:articular cartilage of joint:	PMID:8609369|REF_RGD_ID:10045889
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:850	lung disease		ISO	RGD:68997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20620343|PMID:21433279
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:8577	ulcerative colitis		ISO	RGD:68997	D	RGD:9068941	20200609	RGD		protein:altered expression:colon	PMID:18938767|REF_RGD_ID:5686432
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:8725	vascular dementia		ISO	RGD:68997	D	RGD:9068941	20200609	RGD			PMID:16983186|REF_RGD_ID:10045873
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:8947	diabetic retinopathy	disease_progression	ISO	RGD:2869	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina:	PMID:12781065|REF_RGD_ID:10046008
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9000121	Malocclusion		ISO	RGD:2869	D	RGD:9068941	20200609	RGD			PMID:22758598|REF_RGD_ID:10045831
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9000145	IGF1R-RELATED DISORDER		ISO	RGD:68997	D	RGD:7240710	20180130	OMIM			
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9000145	IGF1R-RELATED DISORDER		ISO	RGD:68997	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: IGF-I RESISTANCE | ClinVar Annotator: match by term: IGF1R-related condition | ClinVar Annotator: match by term: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO	PMID:14657428|PMID:15928254|PMID:19240156|PMID:21204214|PMID:21396585|PMID:22130793|PMID:22309212|PMID:23073384|PMID:23147026|PMID:25040157|PMID:25741868|PMID:28492532|PMID:29621572|PMID:30053089|PMID:30848790|PMID:31586944|PMID:32939436|PMID:34074726
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:68997	D	RGD:9068941	20200609	RGD		associated with Pancreatic Neoplasms	PMID:16575403|REF_RGD_ID:2317645
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9001044	Choroidal Neovascularization	treatment	ISO	RGD:10766	D	RGD:9068941	20200609	RGD			PMID:19032681|REF_RGD_ID:10045869
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:30848790
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2869	D	RGD:9068941	20200609	RGD		protein:increased expression:liver:	PMID:12800242|REF_RGD_ID:10045984
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9001581	Constipation		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:30848790
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9001820	Pulmonary Arterial Hypertension	treatment	ISO	RGD:2869	D	RGD:9068941	20230223	RGD			PMID:30240970|REF_RGD_ID:156430315
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2869	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:kidney:	PMID:19008912|REF_RGD_ID:10046022
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:28492532
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	PMID:25741868|PMID:28492532
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:2869	D	RGD:9068941	20200609	RGD		protein:increased expression:liver, lung (rat)	PMID:12536576|REF_RGD_ID:12904724
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:68997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14657428
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:68997	D	RGD:9068941	20200609	RGD		DNA:point mutation:exon:p.R108Q, p.K115N (human)	PMID:14657428|REF_RGD_ID:1624299
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9002231	Fetal Growth Retardation	onset	ISO	RGD:2869	D	RGD:9068941	20200609	RGD		protein:decreased expression:placenta labyrinth (rat)	PMID:24239160|REF_RGD_ID:12904720
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9002278	Metabolic Bone Diseases	treatment	ISO	RGD:2869	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21567076|REF_RGD_ID:6907380
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:68997	D	RGD:9068941	20200609	RGD			PMID:8948288|REF_RGD_ID:10045874
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9002644	Premature Aging		ISO	RGD:10766	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver:	PMID:19500727|REF_RGD_ID:10045876
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9002916	Hyperphagia		ISO	RGD:2869	D	RGD:9068941	20200609	RGD			PMID:17567960|REF_RGD_ID:10046043
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9003936	Cardiomegaly		ISO	RGD:10766	D	RGD:9068941	20200609	RGD			PMID:18801929|REF_RGD_ID:2311509
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:68997	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:68997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10365914
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9004865	Nuchal Cord		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nuchal cord	
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9005466	Language Development Disorders		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:10766	D	RGD:9068941	20200609	RGD		protein:decreased expression:oviduct	PMID:18676006|REF_RGD_ID:2311502
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2869	D	RGD:9068941	20200609	RGD		protein:decreased phosphorylation:heart	PMID:20555424|REF_RGD_ID:4142788
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9006102	Right Ventricular Hypertrophy	treatment	ISO	RGD:2869	D	RGD:9068941	20200609	RGD			PMID:10090325|REF_RGD_ID:12904918
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9006182	Carotid Artery Injuries	treatment	ISO	RGD:2869	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:carotid artery:	PMID:17606126|REF_RGD_ID:10046006
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:2869	D	RGD:9068941	20200609	RGD		mRNA: increased expression: kidney: 3 and 5 days post ischemia	PMID:10990448|REF_RGD_ID:7242905
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9006257	Growth Disorders		ISO	RGD:68997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14657428
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9007573	Flatfoot		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:68997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23748240
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9007661	Dwarfism		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:22309212|PMID:25741868|PMID:28492532|PMID:30848790
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:68997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21442237
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9007730	Burns		ISO	RGD:2869	D	RGD:9068941	20200609	RGD		protein:decreased expression:skeletal muscle:	PMID:25186839|REF_RGD_ID:10046020
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22309212|PMID:25741868|PMID:30848790
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:2869	D	RGD:9068941	20200609	RGD		protein: altered activity: eye	PMID:19484445|REF_RGD_ID:5686431
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:2869	D	RGD:9068941	20200609	RGD		protein:increased expression:retina:	PMID:23648097|REF_RGD_ID:10046025
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9008350	NATURAL KILLER CELL ENTEROPATHY		ISO	RGD:68997	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Natural killer cell enteropathy	
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9008385	Vomiting		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:68997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21057462
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9351	diabetes mellitus		ISO	RGD:10766	D	RGD:9068941	20200609	RGD			PMID:16642022|REF_RGD_ID:2311506
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9351	diabetes mellitus		ISO	RGD:68997	D	RGD:9068941	20220527	RGD		associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:increased expression:lung (human)	PMID:27411924|REF_RGD_ID:152975631
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2869	D	RGD:9068941	20200609	RGD		protein:decreased expression:myocardium, blood vessel endothelial cell	PMID:18986336|REF_RGD_ID:2306690
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2869	D	RGD:9068941	20200609	RGD		protein:decreased expression:pancreas	PMID:17476475|REF_RGD_ID:2311504
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:68997	D	RGD:9068941	20200609	RGD			PMID:14760498|REF_RGD_ID:7242902
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9834	hyperopia		ISO	RGD:68997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
8755348	Igf1r	insulin like growth factor 1 receptor	gene	DOID:9970	obesity		ISO	RGD:2869	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:heart (rat)	PMID:11009458|REF_RGD_ID:12904882
8755395	Pdcl2	phosducin like 2	gene	DOID:9001513	Asthenozoospermia		ISO	RGD:1344096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthenoteratozoospermia	
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:731378	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21966456
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:0060001	withdrawal disorder	treatment	ISO	RGD:3435	D	RGD:9068941	20200609	RGD			PMID:10708732|REF_RGD_ID:10043351
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:0060500	drug allergy		ISO	RGD:731378	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20587336
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:0060903	thrombosis		ISO	RGD:731378	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17242161
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:0080822	aspirin-induced respiratory disease		ISO	RGD:731378	D	RGD:9068941	20251106	RGD		DNA:SNPs: :rs959, rs7543182	PMID:20587336|REF_RGD_ID:629006598
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:0080822	aspirin-induced respiratory disease		ISO	RGD:731378	D	RGD:9068941	20260305	RGD		DNA:SNPs:promoter, intron, exon:-1709T>A, 1388T>C, 11180T>A	PMID:17496729|REF_RGD_ID:629006548
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:0080822	aspirin-induced respiratory disease	no_association	ISO	RGD:731378	D	RGD:9068941	20251106	RGD		DNA:SNPs: :multiple	PMID:20587336|REF_RGD_ID:629006598
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:10976	membranous glomerulonephritis		ISO	RGD:3435	D	RGD:9068941	20200609	RGD		mRNA:increased expression:renal cortex (rat)	PMID:14636300|REF_RGD_ID:10043359
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:731378	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:11656	cicatricial pemphigoid		ISO	RGD:731378	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21966456
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:127	leiomyoma		ISO	RGD:731378	D	RGD:9068941	20200609	RGD		mRNA:increased expression:uterine myometrium (human)	PMID:17407572|REF_RGD_ID:10043352
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:1591	renovascular hypertension		ISO	RGD:3435	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney (rat)	PMID:16788145|REF_RGD_ID:1642130
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:219	colon cancer		ISO	RGD:3435	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:colon mucosa (rat)	PMID:15247185|REF_RGD_ID:9850265
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:2841	asthma	treatment	ISO	RGD:3435	D	RGD:9068941	20200609	RGD			PMID:23221044|REF_RGD_ID:10043366
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:3275	thymoma		ISO	RGD:731378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:3435	D	RGD:9068941	20260409	RGD		mRNA, protein:increased expression:esophagus	PMID:22165968|REF_RGD_ID:5687745
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:9000197	Edema	treatment	ISO	RGD:3435	D	RGD:9068941	20200609	RGD			PMID:8138964|REF_RGD_ID:10043358
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:9000972	Fever		ISO	RGD:731379	D	RGD:9068941	20200609	RGD			PMID:9751056|REF_RGD_ID:737727
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:9000998	Brain Injuries		ISO	RGD:3435	D	RGD:9068941	20200609	RGD		protein:increased expression:striatum, microglia (rat)	PMID:15234107|REF_RGD_ID:9850280
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:3435	D	RGD:9068941	20260402	RGD		protein:decreased dimerization:retina	PMID:19264896|REF_RGD_ID:640480080
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:9002211	Hyperalgesia		ISO	RGD:3435	D	RGD:9068941	20200609	RGD		associated with sciatic neuropathy	PMID:17413918|REF_RGD_ID:5688169
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:3435	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:placenta (rat)	PMID:15990166|REF_RGD_ID:10043194
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:9002909	Oxygen-Induced Retinopathy		ISO	RGD:3435	D	RGD:9068941	20200609	RGD		protein:increased expression:retina (rat)	PMID:12821538|REF_RGD_ID:9850261
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:9002928	Colonic Neoplasms	severity	ISO	RGD:731379	D	RGD:9068941	20200609	RGD			PMID:15247185|REF_RGD_ID:9850265
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:9005930	Endotoxemia		ISO	RGD:3435	D	RGD:9068941	20260402	RGD		mRNA:increased expression:hippocampus	PMID:26910812|REF_RGD_ID:644650471
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:9006937	NSAID-Enteropathy	treatment	ISO	RGD:3435	D	RGD:9068941	20200609	RGD			PMID:11991626|REF_RGD_ID:10003093
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:9007073	Cough	treatment	ISO	RGD:731378	D	RGD:9068941	20260514	RGD		associated with essential hypertension;DNA:SNP: :rs11209716	PMID:21052031|REF_RGD_ID:4891026
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:3435	D	RGD:9068941	20200609	RGD			PMID:10193764|REF_RGD_ID:10043342
8755411	Ptger3	prostaglandin E receptor 3	gene	DOID:9415	allergic asthma		ISO	RGD:731379	D	RGD:9068941	20251106	RGD		mRNA:increased expression:lobe of lung	PMID:19878559|REF_RGD_ID:5135514
8755422	Asb10	ankyrin repeat and SOCS box containing 10	gene	DOID:2843	long QT syndrome		ISO	RGD:13614362	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532
8755422	Asb10	ankyrin repeat and SOCS box containing 10	gene	DOID:9001412	Glaucoma 1, Open Angle, F		ISO	RGD:1353086	D	RGD:7240710	20180130	OMIM			
8755422	Asb10	ankyrin repeat and SOCS box containing 10	gene	DOID:9001412	Glaucoma 1, Open Angle, F		ISO	RGD:1353086	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ASB10-related condition | ClinVar Annotator: match by term: Glaucoma 1, open angle, F	PMID:22156576|PMID:25741868|PMID:28492532
8755437	Nrbp1	nuclear receptor binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8755437	Nrbp1	nuclear receptor binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1354113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8755437	Nrbp1	nuclear receptor binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354113	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8755437	Nrbp1	nuclear receptor binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1354113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8755437	Nrbp1	nuclear receptor binding protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8755437	Nrbp1	nuclear receptor binding protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1354113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8755437	Nrbp1	nuclear receptor binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1354113	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8755437	Nrbp1	nuclear receptor binding protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8755437	Nrbp1	nuclear receptor binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755437	Nrbp1	nuclear receptor binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8755437	Nrbp1	nuclear receptor binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8755462	Plk3	polo like kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8755462	Plk3	polo like kinase 3	gene	DOID:0080600	COVID-19		ISO	RGD:1350781	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
8755462	Plk3	polo like kinase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8755462	Plk3	polo like kinase 3	gene	DOID:2152	ovary epithelial cancer	disease_progression	ISO	RGD:1350781	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:14970859|REF_RGD_ID:2299941
8755462	Plk3	polo like kinase 3	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:1350781	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:15785925|REF_RGD_ID:2299942
8755462	Plk3	polo like kinase 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8755462	Plk3	polo like kinase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1350781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8755462	Plk3	polo like kinase 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8755462	Plk3	polo like kinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1350781	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8755462	Plk3	polo like kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755462	Plk3	polo like kinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8755462	Plk3	polo like kinase 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8755462	Plk3	polo like kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8755462	Plk3	polo like kinase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8755482	Fabp5	fatty acid binding protein 5	gene	DOID:10283	prostate cancer		ISO	RGD:736313	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate (human)	PMID:16489065|REF_RGD_ID:1578462
8755482	Fabp5	fatty acid binding protein 5	gene	DOID:5041	esophageal cancer		ISO	RGD:736313	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8755482	Fabp5	fatty acid binding protein 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8755482	Fabp5	fatty acid binding protein 5	gene	DOID:8893	psoriasis		ISO	RGD:736313	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin (human)	PMID:16283139|REF_RGD_ID:1578463
8755482	Fabp5	fatty acid binding protein 5	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:736313	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8755491	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:0060058	lymphoma		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8755491	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8755491	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8755491	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8755491	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8755491	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8755491	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8755491	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1313708	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8755491	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755491	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1313708	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:34427968
8755491	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:9000918	Disease Progression		ISO	RGD:1313708	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:34427968
8755491	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8755491	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8755491	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313708	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151356
8755491	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8755516	Rlig1	RNA 5'-phosphate and 3'-OH ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8755516	Rlig1	RNA 5'-phosphate and 3'-OH ligase 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1606480	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica	PMID:25741868|PMID:28492532|PMID:34196655
8755516	Rlig1	RNA 5'-phosphate and 3'-OH ligase 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606480	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16682973|PMID:16909394|PMID:17576681|PMID:19764032|PMID:20683928|PMID:21786365|PMID:23954617|PMID:25741868|PMID:27821535|PMID:28492532|PMID:29588463|PMID:30193310|PMID:34196655|PMID:9536098
8755516	Rlig1	RNA 5'-phosphate and 3'-OH ligase 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606480	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:16682973|PMID:16909394|PMID:17576681|PMID:19764032|PMID:20683928|PMID:21786365|PMID:23954617|PMID:25741868|PMID:27821535|PMID:28492532|PMID:29588463|PMID:30193310|PMID:31589614|PMID:32483926|PMID:34196655|PMID:9536098
8755516	Rlig1	RNA 5'-phosphate and 3'-OH ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8755516	Rlig1	RNA 5'-phosphate and 3'-OH ligase 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1606480	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:25741868|PMID:28492532|PMID:34196655
8755516	Rlig1	RNA 5'-phosphate and 3'-OH ligase 1	gene	DOID:1909	melanoma		ISO	RGD:1606480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8755516	Rlig1	RNA 5'-phosphate and 3'-OH ligase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8755516	Rlig1	RNA 5'-phosphate and 3'-OH ligase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606480	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8755516	Rlig1	RNA 5'-phosphate and 3'-OH ligase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8755516	Rlig1	RNA 5'-phosphate and 3'-OH ligase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1350540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:10720067|PMID:14747197|PMID:16199547|PMID:17192295|PMID:20197673|PMID:21966534|PMID:24140098|PMID:25741868|PMID:26980296|PMID:28492532
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:0050811	congenital adrenal hyperplasia		ISO	RGD:1350540	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital adrenal hyperplasia	PMID:10455016|PMID:10720067|PMID:10877510|PMID:11243732|PMID:11549685|PMID:11549876|PMID:12466376|PMID:12706306|PMID:14715827|PMID:14747197|PMID:1515452|PMID:15771555|PMID:1577471|PMID:16176874|PMID:16569739|PMID:19454579|PMID:19470621|PMID:20170344|PMID:20197673|PMID:21282350|PMID:21340163|PMID:21846181|PMID:21966534|PMID:22087567|PMID:22266943|PMID:22954317|PMID:23291414|PMID:23466679|PMID:24033266|PMID:24140098|PMID:24498484|PMID:2493025|PMID:25741868|PMID:26543560|PMID:27271787|PMID:27426448|PMID:2786493|PMID:28008861|PMID:2843762|PMID:28492532|PMID:29278670|PMID:29595516|PMID:31388123|PMID:31636948|PMID:31801776|PMID:32985417|PMID:33516834|PMID:33547012|PMID:33761789|PMID:33864926|PMID:34483146|PMID:34524979|PMID:34829455|PMID:35032013|PMID:35043964|PMID:35134971|PMID:35178494|PMID:35561789|PMID:35729303|PMID:35990289|PMID:36187111|PMID:36339422|PMID:36589849|PMID:36800681|PMID:37542252|PMID:39020240|PMID:8027220|PMID:8245018|PMID:8396144|PMID:8550762|PMID:9326943|PMID:9601054|PMID:9855540|PMID:9892022
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:0060043	sexual health disorder		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15890676
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15706422
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:10211	cholelithiasis		ISO	RGD:1350540	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus; DNA:transition:5' utr:-34T>C rs743572 (human)	PMID:16381022|REF_RGD_ID:2317619
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:10283	prostate cancer		ISO	RGD:1350540	D	RGD:9068941	20200609	RGD			PMID:18645193|REF_RGD_ID:4846627
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:10824	malignant hypertension		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3142437
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350540	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35764155
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:11446	sciatic neuropathy		ISO	RGD:2456	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:spinal cord (rat)	PMID:17720801|REF_RGD_ID:4889112
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:11476	osteoporosis		ISO	RGD:1350540	D	RGD:9068941	20200609	RGD		DNA:snps:multiple (human)	PMID:17002564|REF_RGD_ID:1625350
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1350540	D	RGD:9068941	20200609	RGD		protein:increased activity:ovary follicle, theca cell (human)	PMID:11739466|REF_RGD_ID:4888511
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:12336	male infertility		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15890676
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:13938	amenorrhea		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18645707
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:1612	breast cancer		ISO	RGD:1350540	D	RGD:9068941	20250724	RGD		DNA:transition:5' utr:-34T>C rs743572 (human)	PMID:12631398|REF_RGD_ID:4889142
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:1350540	D	RGD:9068941	20200609	RGD		DNA:transition:5' utr:-34T>C rs743572 (human)	PMID:19642097|REF_RGD_ID:2317618
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:1923	disorder of sexual development		ISO	RGD:1350540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia	PMID:25741868
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:1924	hypogonadism		ISO	RGD:1350540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:10720067|PMID:14747197|PMID:16199547|PMID:17192295|PMID:20197673|PMID:21966534|PMID:24140098|PMID:25741868|PMID:26980296|PMID:28492532
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:3121	gallbladder cancer	susceptibility	ISO	RGD:1350540	D	RGD:9068941	20200609	RGD		DNA:transition:5' utr:-34T>C rs743572 (human)	PMID:16381022|REF_RGD_ID:2317619
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:5119	ovarian cyst		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18645707
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1350540	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868|PMID:34480478
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:630	genetic disease		ISO	RGD:1350540	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15341023
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:9000172	17,20-Lyase Deficiency, Isolated		ISO	RGD:1350540	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial | ClinVar Annotator: match by term: CYP17A1-related condition	PMID:10720067|PMID:11243732|PMID:11422109|PMID:14671162|PMID:14715825|PMID:14715827|PMID:14747197|PMID:15713706|PMID:16477341|PMID:16569739|PMID:16772352|PMID:16822828|PMID:16849412|PMID:1714904|PMID:17192295|PMID:17379008|PMID:1740503|PMID:20170344|PMID:20197673|PMID:21340157|PMID:22087567|PMID:22954317|PMID:23291414|PMID:24140098|PMID:25027547|PMID:25741868|PMID:2650900|PMID:26920256|PMID:28492532|PMID:28870780|PMID:29595516|PMID:3263289|PMID:32784047|PMID:33819959|PMID:35032013|PMID:9435441
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1350540	D	RGD:9068941	20230608	CTD		CTD Direct Evidence: marker/mechanism	PMID:35764155
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:9000734	Oligomenorrhea		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18645707
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1350540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:10720067|PMID:14747197|PMID:16199547|PMID:17192295|PMID:20197673|PMID:21966534|PMID:24140098|PMID:25741868|PMID:26980296|PMID:28492532
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1350540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:10720067|PMID:14747197|PMID:16199547|PMID:17192295|PMID:20197673|PMID:21966534|PMID:24140098|PMID:25741868|PMID:26980296|PMID:28492532
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:9001961	Hyperkalemia		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18645707
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15538743|PMID:16424004|PMID:16859836|PMID:16998812|PMID:17592021
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1350540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:10720067|PMID:14747197|PMID:16199547|PMID:17192295|PMID:20197673|PMID:21966534|PMID:24140098|PMID:25741868|PMID:26980296|PMID:28492532
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:9003733	Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency		ISO	RGD:1350540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CYP21 deficiency	PMID:12466376|PMID:14747197|PMID:25741868|PMID:27426448|PMID:28492532|PMID:34483146|PMID:36589849|PMID:36800681|PMID:9326943|PMID:9601054
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:9004538	Hearing Loss		ISO	RGD:1350540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:10720067|PMID:14747197|PMID:16199547|PMID:17192295|PMID:20197673|PMID:21966534|PMID:24140098|PMID:25741868|PMID:26980296|PMID:28492532
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:9005968	Neuralgia		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17720801
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:9006683	Congenital Adrenal Hyperplasia, Type 5		ISO	RGD:1350540	D	RGD:7240710	20180130	OMIM			
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:9006683	Congenital Adrenal Hyperplasia, Type 5		ISO	RGD:1350540	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5 | ClinVar Annotator: match by term: congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	PMID:10455016|PMID:10720067|PMID:10877510|PMID:11243732|PMID:11422109|PMID:11549685|PMID:11549876|PMID:12466376|PMID:12706306|PMID:14671162|PMID:14715827|PMID:14747197|PMID:1515452|PMID:15771555|PMID:1577471|PMID:15844475|PMID:16199547|PMID:16477341|PMID:16483711|PMID:16569739|PMID:16772352|PMID:16849412|PMID:1714904|PMID:17192295|PMID:17379008|PMID:18422032|PMID:19454579|PMID:19470621|PMID:19728179|PMID:19793597|PMID:20170344|PMID:20197673|PMID:21340157|PMID:21340163|PMID:21822006|PMID:21846181|PMID:21966534|PMID:22087567|PMID:22954317|PMID:23291414|PMID:23466679|PMID:24033266|PMID:24140098|PMID:24498484|PMID:2493025|PMID:25741868|PMID:26543560|PMID:26647153|PMID:26920256|PMID:26980296|PMID:27271787|PMID:27426448|PMID:2786493|PMID:28008861|PMID:28130116|PMID:2843762|PMID:28492532|PMID:28870780|PMID:29278670|PMID:29595516|PMID:29858860|PMID:30002216|PMID:30229581|PMID:31464148|PMID:31801776|PMID:31885295|PMID:32215889|PMID:32784047|PMID:33516834|PMID:33547012|PMID:33753170|PMID:33780934|PMID:33864926|PMID:34097983|PMID:34483146|PMID:34524979|PMID:34724156|PMID:34829455|PMID:35032013|PMID:35043964|PMID:35134971|PMID:35729303|PMID:35810428|PMID:35990289|PMID:36339422|PMID:36589849|PMID:36800681|PMID:37316894|PMID:38933733|PMID:38934795|PMID:39020240|PMID:8027220|PMID:8245018|PMID:8287576|PMID:8550762|PMID:9326943|PMID:9601054|PMID:9855540|PMID:9888582|PMID:9892022
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:9007456	Female Infertility		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18645707
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1350540	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:19913079|PMID:34426286
8755528	LOC102011010	steroid 17-alpha-hydroxylase/17,20 lyase	gene	DOID:9406	hypopituitarism		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12970278
8755541	Pisd	phosphatidylserine decarboxylase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8755541	Pisd	phosphatidylserine decarboxylase	gene	DOID:1909	melanoma		ISO	RGD:1352965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8755541	Pisd	phosphatidylserine decarboxylase	gene	DOID:3275	thymoma		ISO	RGD:1352965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8755541	Pisd	phosphatidylserine decarboxylase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8755541	Pisd	phosphatidylserine decarboxylase	gene	DOID:5041	esophageal cancer		ISO	RGD:1352965	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8755541	Pisd	phosphatidylserine decarboxylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755541	Pisd	phosphatidylserine decarboxylase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8755541	Pisd	phosphatidylserine decarboxylase	gene	DOID:630	genetic disease		ISO	RGD:1352965	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8755541	Pisd	phosphatidylserine decarboxylase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8755541	Pisd	phosphatidylserine decarboxylase	gene	DOID:9000377	Liberfarb Syndrome		ISO	RGD:1352965	D	RGD:7240710	20200708	OMIM			
8755541	Pisd	phosphatidylserine decarboxylase	gene	DOID:9000377	Liberfarb Syndrome		ISO	RGD:1352965	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LIBERFARB SYNDROME | ClinVar Annotator: match by term: Liberfarb syndrome | ClinVar Annotator: match by term: PISD-related condition | ClinVar Annotator: match by term: PISD-related mitochondrial disease	PMID:25741868|PMID:28492532|PMID:30488656|PMID:30858161
8755541	Pisd	phosphatidylserine decarboxylase	gene	DOID:9007491	Childhood Schizophrenia		ISO	RGD:1352965	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Childhood Onset Schizophrenia	PMID:26508570
8755541	Pisd	phosphatidylserine decarboxylase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8755541	Pisd	phosphatidylserine decarboxylase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:0050120	hemophagocytic lymphohistiocytosis		ISO	RGD:1551470	D	RGD:9068941	20220825	MouseDO			
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:0050633	ocular albinism 1		ISO	RGD:1354398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ocular albinism	PMID:10835631|PMID:12648328|PMID:15475639|PMID:18350256|PMID:18397837|PMID:19030707|PMID:19953648|PMID:23160464|PMID:25312756|PMID:25741868|PMID:25901543|PMID:28492532|PMID:30697212
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:0060539	Hermansky-Pudlak syndrome 1		ISO	RGD:1551470	D	RGD:9068941	20220825	MouseDO		OMIM:203300	
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:0060831	Griscelli syndrome		ISO	RGD:1354398	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Griscelli syndrome	PMID:10835631|PMID:12148598|PMID:16551969|PMID:18350256|PMID:19953648|PMID:23160464|PMID:24033266|PMID:25741868|PMID:26684649|PMID:28492532
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:0060833	Griscelli syndrome type 2		ISO	RGD:1354398	D	RGD:7240710	20180130	OMIM			
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:0060833	Griscelli syndrome type 2		ISO	RGD:1354398	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GRISCELLI SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: Griscelli syndrome, type 2 | ClinVar Annotator: match by term: PAID SYNDROME | ClinVar Annotator: match by term: PARTIAL ALBINISM AND IMMUNODEFICIENCY SYNDROME	PMID:10835631|PMID:12648328|PMID:15163896|PMID:15475639|PMID:16199547|PMID:16278825|PMID:17576681|PMID:18350256|PMID:18397837|PMID:18403584|PMID:19030707|PMID:19953648|PMID:22475297|PMID:23160464|PMID:25071262|PMID:25312756|PMID:25500851|PMID:25544030|PMID:25741868|PMID:25901543|PMID:26025024|PMID:26880764|PMID:26915675|PMID:27016801|PMID:27781387|PMID:28353193|PMID:28492532|PMID:28936583|PMID:29357941|PMID:29522846|PMID:30104219|PMID:30290665|PMID:30697212|PMID:30899265|PMID:30934652|PMID:31164711|PMID:31233462|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32655337|PMID:32853466|PMID:32856792|PMID:32860008|PMID:32888943|PMID:32965739|PMID:33225392|PMID:33362801|PMID:34170459|PMID:34329649|PMID:34796988|PMID:37273692|PMID:37344829|PMID:37368332|PMID:9536098
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:1115	sarcoma		ISO	RGD:1354398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:1324	lung cancer		ISO	RGD:1354398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:1827	generalized epilepsy		ISO	RGD:1354398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:10835631|PMID:15475639|PMID:18397837|PMID:19030707|PMID:19953648|PMID:25071262|PMID:25500851|PMID:25741868|PMID:28492532
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:2223	platelet storage pool deficiency		ISO	RGD:1551470	D	RGD:9068941	20220825	MouseDO		OMIM:185050	
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1354398	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:10835631|PMID:15475639|PMID:16199547|PMID:16278825|PMID:18397837|PMID:19030707|PMID:19953648|PMID:23160464|PMID:24678334|PMID:25071262|PMID:25500851|PMID:25544030|PMID:25741868|PMID:25801174|PMID:26880764|PMID:27016801|PMID:27781387|PMID:28353193|PMID:28492532|PMID:29357941|PMID:29522846|PMID:30290665|PMID:31164711|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32853466|PMID:32856792|PMID:32888943|PMID:32965739|PMID:34170459|PMID:34329649|PMID:34573280|PMID:37273692
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1354398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:10835631|PMID:15475639|PMID:16199547|PMID:18397837|PMID:19030707|PMID:19953648|PMID:23160464|PMID:25071262|PMID:25500851|PMID:25741868|PMID:25801174|PMID:27016801|PMID:28492532|PMID:29357941|PMID:31164711|PMID:32375849|PMID:32542393|PMID:32856792|PMID:32888943|PMID:34170459|PMID:34329649|PMID:37273692|PMID:37344829
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:3263	piebaldism		ISO	RGD:1354398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Partial albinism	PMID:10835631|PMID:12648328|PMID:15475639|PMID:18350256|PMID:18397837|PMID:19030707|PMID:19953648|PMID:23160464|PMID:25312756|PMID:25741868|PMID:25901543|PMID:28492532|PMID:30697212
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:4330	non-Langerhans-cell histiocytosis		ISO	RGD:1354398	D	RGD:9068941	20200609	RGD		Griscelli syndrome type 2, OMIM: 607624;DNA:point mutations:exon:L130P, A152P)	PMID:12531900|REF_RGD_ID:1601587
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:630	genetic disease		ISO	RGD:1354398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:9000918	Disease Progression		ISO	RGD:1354398	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:34291859
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:9000972	Fever		ISO	RGD:1354398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	PMID:10835631|PMID:15475639|PMID:18397837|PMID:19030707|PMID:19953648|PMID:25071262|PMID:25500851|PMID:25741868|PMID:28492532
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1354398	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:34291859
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:9004898	Jaundice		ISO	RGD:1354398	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:22475297|PMID:25741868|PMID:27016801|PMID:28492532
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1354398	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:22475297|PMID:25741868|PMID:27016801|PMID:28492532
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:9005660	Hypopigmentation		ISO	RGD:1354398	D	RGD:9068941	20200609	RGD		Griscelli syndrome type 2, OMIM: 607624;DNA:point mutations:exon:L130P, A152P)	PMID:12531900|REF_RGD_ID:1601587
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:9005835	Congenital Abnormalities		ISO	RGD:1354398	D	RGD:9068941	20200609	RGD		Griscelli syndrome type I. OMIM:214450	PMID:12058346|REF_RGD_ID:1600821
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:9007073	Cough		ISO	RGD:1354398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cough	PMID:10835631|PMID:15475639|PMID:18397837|PMID:19030707|PMID:19953648|PMID:25071262|PMID:25500851|PMID:25741868|PMID:28492532
8755577	Rab27a	RAB27A, member RAS oncogene family	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8755597	Sgcg	sarcoglycan gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8755597	Sgcg	sarcoglycan gamma	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1347979	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:10447257|PMID:11801399|PMID:14981741|PMID:15322984|PMID:17994539|PMID:18285821|PMID:20345928|PMID:21896784|PMID:22095924|PMID:25741868|PMID:28492532|PMID:32875335|PMID:8968757|PMID:9658457|PMID:9781048
8755597	Sgcg	sarcoglycan gamma	gene	DOID:0110277	autosomal recessive limb-girdle muscular dystrophy type 2C		ISO	RGD:1347979	D	RGD:7240710	20180130	OMIM			
8755597	Sgcg	sarcoglycan gamma	gene	DOID:0110277	autosomal recessive limb-girdle muscular dystrophy type 2C		ISO	RGD:1347979	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy type 2C | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: SGCG-related condition	PMID:10447257|PMID:10714584|PMID:10942431|PMID:10993494|PMID:11801399|PMID:12040521|PMID:12532930|PMID:12566530|PMID:12746421|PMID:14981741|PMID:15322984|PMID:16199547|PMID:16616845|PMID:16832103|PMID:17576681|PMID:17994539|PMID:18285821|PMID:18996010|PMID:19167890|PMID:19763152|PMID:19770540|PMID:19781108|PMID:20307669|PMID:20345928|PMID:20623375|PMID:22095924|PMID:22240777|PMID:22406018|PMID:23929688|PMID:24033266|PMID:24534832|PMID:24552312|PMID:25605665|PMID:25640679|PMID:25741868|PMID:25802879|PMID:26467025|PMID:27600705|PMID:27708273|PMID:27759885|PMID:27884122|PMID:28492532|PMID:28687063|PMID:28889091|PMID:30107846|PMID:30564623|PMID:3076484|PMID:30764848|PMID:30838351|PMID:30919934|PMID:31517061|PMID:32214227|PMID:32875335|PMID:34624274|PMID:36992678|PMID:39472908|PMID:39755676|PMID:7481775|PMID:8923014|PMID:8968757|PMID:9429136|PMID:9536098|PMID:9658457|PMID:9673983|PMID:9781048
8755597	Sgcg	sarcoglycan gamma	gene	DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D		ISO	RGD:1347979	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D | ClinVar Annotator: match by term: Sarcoglycanopathy	PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8755597	Sgcg	sarcoglycan gamma	gene	DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D		ISO	RGD:1347979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoglycanopathy	PMID:25741868|PMID:26467025|PMID:28492532|PMID:28687063
8755597	Sgcg	sarcoglycan gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8755597	Sgcg	sarcoglycan gamma	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1552804	D	RGD:9068941	20240425	MouseDO			
8755597	Sgcg	sarcoglycan gamma	gene	DOID:630	genetic disease		ISO	RGD:1347979	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8755597	Sgcg	sarcoglycan gamma	gene	DOID:8398	osteoarthritis		ISO	RGD:1347979	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17568789
8755597	Sgcg	sarcoglycan gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8755597	Sgcg	sarcoglycan gamma	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1347979	D	RGD:9068941	20200609	RGD		DNA:SNP: : rs9552911(human)	PMID:28123479|REF_RGD_ID:13605620
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:0110723	neuronal ceroid lipofuscinosis 8		ISO	RGD:1346223	D	RGD:7240710	20180130	OMIM			
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:0110723	neuronal ceroid lipofuscinosis 8		ISO	RGD:1346223	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 8 | ClinVar Annotator: match by term: CLN8-related disorder | ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 8 | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 8 | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8	PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15160397|PMID:16570191|PMID:16828266|PMID:19201763|PMID:19431184|PMID:19807737|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26443629|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29915382|PMID:30293248|PMID:30397314|PMID:30741402|PMID:30919163|PMID:31069529|PMID:31130284|PMID:31440721|PMID:31741823|PMID:32348865|PMID:33358637|PMID:34532411|PMID:36011304|PMID:36912596|PMID:37074398|PMID:38229148|PMID:38277958|PMID:38751748|PMID:38857616|PMID:39675099
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:0110724	neuronal ceroid lipofuscinosis 8 northern epilepsy variant		ISO	RGD:1346223	D	RGD:7240710	20181017	OMIM			
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:0110724	neuronal ceroid lipofuscinosis 8 northern epilepsy variant		ISO	RGD:1346223	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT | ClinVar Annotator: match by term: NORTHERN EPILEPSY | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | ClinVar Annotator: match by term: Northern epilepsy	PMID:10508524|PMID:10861296|PMID:15160397|PMID:16828266|PMID:20301601|PMID:22220808|PMID:25741868|PMID:26075876|PMID:26467025|PMID:28492532|PMID:32348865|PMID:36912596|PMID:38751748
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:1059	intellectual disability		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868|PMID:28492532
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:1115	sarcoma		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1346223	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:18414213|PMID:19431184|PMID:19807737|PMID:2199011|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:30741402|PMID:30919163
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1346223	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:18414213|PMID:19431184|PMID:19807737|PMID:2199011|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29961513|PMID:30741402|PMID:30919163|PMID:31741823
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1346223	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: neuronal ceroid lipofuscinosis	PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15160397|PMID:16828266|PMID:17576681|PMID:19201763|PMID:19807737|PMID:21990111|PMID:22220808|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25806950|PMID:25976102|PMID:26075876|PMID:26443629|PMID:26467025|PMID:26657971|PMID:27629047|PMID:27844444|PMID:28116333|PMID:28492532|PMID:29422019|PMID:30741402|PMID:30919163|PMID:31069529|PMID:32348865|PMID:33358637|PMID:33694307|PMID:34201538|PMID:36912596|PMID:38751748|PMID:9422019|PMID:9536098
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:1826	epilepsy		ISO	RGD:1346223	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:21990111|PMID:25741868|PMID:26467025|PMID:26657971|PMID:28454995|PMID:28492532|PMID:29503925
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:1826	epilepsy		ISO	RGD:1346223	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:21990111|PMID:25741868|PMID:26467025|PMID:26657971|PMID:28454995|PMID:28492532|PMID:29503925|PMID:29961513|PMID:31741823
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:1826	epilepsy		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:10861296|PMID:22220808|PMID:25741868|PMID:26075876|PMID:28492532
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:28492532
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:2468	psychotic disorder		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:25741868
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:2841	asthma		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:630	genetic disease		ISO	RGD:1346223	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10508524|PMID:10861296|PMID:22220808|PMID:25741868|PMID:26075876|PMID:26467025|PMID:26657971|PMID:28492532|PMID:32348865|PMID:36912596|PMID:38751748
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:7998	hyperthyroidism		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:9003507	Premature Birth		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:10861296|PMID:22220808|PMID:25741868|PMID:26075876|PMID:28492532
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:9004538	Hearing Loss		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:28492532
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1346223	D	RGD:9068941	20211015	CTD		CTD Direct Evidence: marker/mechanism	PMID:22302580
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
8755619	Cln8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:9008023	Memory Disorders		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
8755629	Parva	parvin alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8755629	Parva	parvin alpha	gene	DOID:1909	melanoma		ISO	RGD:1352322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8755629	Parva	parvin alpha	gene	DOID:303	substance-related disorder		ISO	RGD:1352322	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8755629	Parva	parvin alpha	gene	DOID:3275	thymoma		ISO	RGD:1352322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8755629	Parva	parvin alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1352322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8755629	Parva	parvin alpha	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8755629	Parva	parvin alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755629	Parva	parvin alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8755646	Chrm3	cholinergic receptor muscarinic 3	gene	DOID:0050685	small cell carcinoma		ISO	RGD:734195	D	RGD:9068941	20200609	RGD			PMID:20150622|REF_RGD_ID:5133439
8755646	Chrm3	cholinergic receptor muscarinic 3	gene	DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome		ISO	RGD:737208	D	RGD:9068941	20220825	MouseDO		OMIM:155310	
8755646	Chrm3	cholinergic receptor muscarinic 3	gene	DOID:0060889	prune belly syndrome		ISO	RGD:734195	D	RGD:7240710	20180130	OMIM			
8755646	Chrm3	cholinergic receptor muscarinic 3	gene	DOID:0060889	prune belly syndrome		ISO	RGD:734195	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: CHRM3-related condition | ClinVar Annotator: match by term: PRUNE BELLY SYNDROME | ClinVar Annotator: match by term: Prune belly syndrome	PMID:22077972|PMID:25741868|PMID:28492532|PMID:31441039
8755646	Chrm3	cholinergic receptor muscarinic 3	gene	DOID:11383	cryptorchidism		ISO	RGD:734195	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22077972
8755646	Chrm3	cholinergic receptor muscarinic 3	gene	DOID:1324	lung cancer		ISO	RGD:734195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8755646	Chrm3	cholinergic receptor muscarinic 3	gene	DOID:2841	asthma		ISO	RGD:737208	D	RGD:9068941	20200609	RGD			PMID:18348887|REF_RGD_ID:5133438
8755646	Chrm3	cholinergic receptor muscarinic 3	gene	DOID:2841	asthma	severity	ISO	RGD:734195	D	RGD:9068941	20200609	RGD			PMID:20394512|REF_RGD_ID:5133437
8755646	Chrm3	cholinergic receptor muscarinic 3	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:734195	D	RGD:9068941	20200609	RGD			PMID:19281093|REF_RGD_ID:5133441
8755646	Chrm3	cholinergic receptor muscarinic 3	gene	DOID:365	bladder disease		ISO	RGD:734195	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22077972
8755646	Chrm3	cholinergic receptor muscarinic 3	gene	DOID:365	bladder disease		ISO	RGD:734195	D	RGD:9068941	20200609	RGD			PMID:17922784|REF_RGD_ID:5133442
8755646	Chrm3	cholinergic receptor muscarinic 3	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:734195	D	RGD:9068941	20200609	RGD			PMID:18480105|REF_RGD_ID:5133440
8755646	Chrm3	cholinergic receptor muscarinic 3	gene	DOID:5082	liver cirrhosis		ISO	RGD:734195	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20197374
8755646	Chrm3	cholinergic receptor muscarinic 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755646	Chrm3	cholinergic receptor muscarinic 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8755646	Chrm3	cholinergic receptor muscarinic 3	gene	DOID:9006095	Ascites		ISO	RGD:734195	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20197374
8755646	Chrm3	cholinergic receptor muscarinic 3	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:734195	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20197374
8755692	Kpnb1	karyopherin subunit beta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8755692	Kpnb1	karyopherin subunit beta 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8755692	Kpnb1	karyopherin subunit beta 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8755692	Kpnb1	karyopherin subunit beta 1	gene	DOID:1115	sarcoma		ISO	RGD:737037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8755692	Kpnb1	karyopherin subunit beta 1	gene	DOID:1909	melanoma		ISO	RGD:737037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8755692	Kpnb1	karyopherin subunit beta 1	gene	DOID:4001	ovarian carcinoma		ISO	RGD:737037	D	RGD:9068941	20221215	CTD		CTD Direct Evidence: marker/mechanism	PMID:28811376
8755692	Kpnb1	karyopherin subunit beta 1	gene	DOID:4362	cervical cancer		ISO	RGD:737037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8755692	Kpnb1	karyopherin subunit beta 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8755692	Kpnb1	karyopherin subunit beta 1	gene	DOID:5041	esophageal cancer		ISO	RGD:737037	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8755692	Kpnb1	karyopherin subunit beta 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:737037	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8755692	Kpnb1	karyopherin subunit beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755692	Kpnb1	karyopherin subunit beta 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8755692	Kpnb1	karyopherin subunit beta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8755692	Kpnb1	karyopherin subunit beta 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8755692	Kpnb1	karyopherin subunit beta 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8755734	Bud13	BUD13 spliceosome associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8755734	Bud13	BUD13 spliceosome associated protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8755734	Bud13	BUD13 spliceosome associated protein	gene	DOID:1909	melanoma		ISO	RGD:1606207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8755734	Bud13	BUD13 spliceosome associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1606207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8755734	Bud13	BUD13 spliceosome associated protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8755734	Bud13	BUD13 spliceosome associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755734	Bud13	BUD13 spliceosome associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8755734	Bud13	BUD13 spliceosome associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8755734	Bud13	BUD13 spliceosome associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8755734	Bud13	BUD13 spliceosome associated protein	gene	DOID:9009317	Achalasia-Progeroid Syndrome		ISO	RGD:1606207	D	RGD:7240710	20250319	OMIM			
8755734	Bud13	BUD13 spliceosome associated protein	gene	DOID:9009317	Achalasia-Progeroid Syndrome		ISO	RGD:1606207	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ACHALASIA-PROGEROID SYNDROME	PMID:25741868|PMID:35670808
8755734	Bud13	BUD13 spliceosome associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:0060699	familial hypocalciuric hypercalcemia		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis	PMID:11018746|PMID:23975452|PMID:25481104
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:0112127	HRPT-related hyperuricemia		ISO	RGD:731296	D	RGD:7240710	20180130	OMIM			
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:0112127	HRPT-related hyperuricemia		ISO	RGD:731296	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HPRT1-Related Disorders | ClinVar Annotator: match by term: HYPERURICEMIA, HPRT-RELATED | ClinVar Annotator: match by term: HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY, PARTIAL | ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	PMID:10737990|PMID:11018746|PMID:1301916|PMID:15386453|PMID:1551676|PMID:15571220|PMID:16549399|PMID:17027311|PMID:17454734|PMID:17483691|PMID:19016344|PMID:20176575|PMID:2071157|PMID:20981450|PMID:22157001|PMID:22999896|PMID:2323782|PMID:2347587|PMID:23975452|PMID:2516172|PMID:25481104|PMID:25741868|PMID:27288985|PMID:2738157|PMID:28492532|PMID:2928313|PMID:3198771|PMID:8125482
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:1059	intellectual disability		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:10907	microcephaly		ISO	RGD:731296	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:15571220|PMID:17027311|PMID:22157001|PMID:2323782|PMID:23975452|PMID:25481104|PMID:25741868|PMID:28492532
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:12849	autistic disorder		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:10737990|PMID:1301916|PMID:17454734|PMID:20981450|PMID:22157001|PMID:22999896|PMID:25481104|PMID:28492532
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:1919	Lesch-Nyhan syndrome		ISO	RGD:731296	D	RGD:7240710	20180130	OMIM			
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:1919	Lesch-Nyhan syndrome		ISO	RGD:731296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HPRT DEFICIENCY, COMPLETE | ClinVar Annotator: match by term: HPRT FUJIMI | ClinVar Annotator: match by term: LESCH-NYHAN SYNDROME | ClinVar Annotator: match by term: Lesch-Nyhan syndrome	PMID:10518289|PMID:10737990|PMID:11018746|PMID:11068166|PMID:1301916|PMID:1483694|PMID:1487231|PMID:15386453|PMID:15505382|PMID:15571220|PMID:16199547|PMID:16549399|PMID:17027311|PMID:17454734|PMID:17576681|PMID:1781350|PMID:1840549|PMID:18600506|PMID:18779430|PMID:19016344|PMID:20301328|PMID:20544510|PMID:20638392|PMID:20981450|PMID:22132982|PMID:22132984|PMID:22157001|PMID:22999896|PMID:2323782|PMID:23597535|PMID:23975452|PMID:25136576|PMID:25481104|PMID:25612837|PMID:25741868|PMID:2738157|PMID:28045594|PMID:28492532|PMID:29185864|PMID:2928313|PMID:31182398|PMID:3265398|PMID:3384338|PMID:34765395|PMID:36964972|PMID:40794449|PMID:8111415|PMID:8112742|PMID:8314557|PMID:9288634|PMID:9536098|PMID:9799086
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:1920	hyperuricemia		ISO	RGD:731296	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23348497
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:3312	bipolar disorder		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:24940672|PMID:25420563|PMID:25482009|PMID:9003484
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:731296	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2826	D	RGD:9068941	20200609	RGD		protein:increased activity:hepatoma (rat)	PMID:6327016|REF_RGD_ID:5135035
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:9003507	Premature Birth		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:10737990|PMID:1301916|PMID:17454734|PMID:20981450|PMID:22157001|PMID:22999896|PMID:25481104|PMID:28492532
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:9005497	Lesch-Nyhan Syndrome, Neurologic Variant		ISO	RGD:731296	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LESCH-NYHAN SYNDROME, NEUROLOGIC VARIANT | ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant	PMID:10737990|PMID:1301916|PMID:17454734|PMID:20981450|PMID:22157001|PMID:22999896|PMID:25481104|PMID:28492532
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731296	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2826	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver (rat)	PMID:3043317|REF_RGD_ID:5135485
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8755766	Hprt1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:731296	D	RGD:9068941	20230803	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8755787	Creb3l4	cAMP responsive element binding protein 3 like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8755787	Creb3l4	cAMP responsive element binding protein 3 like 4	gene	DOID:10534	stomach cancer		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8755787	Creb3l4	cAMP responsive element binding protein 3 like 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8755787	Creb3l4	cAMP responsive element binding protein 3 like 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8755787	Creb3l4	cAMP responsive element binding protein 3 like 4	gene	DOID:2526	prostate adenocarcinoma		ISO	RGD:1347233	D	RGD:9068941	20200609	RGD			PMID:11830526|PMID:17270658|REF_RGD_ID:13504714|REF_RGD_ID:13504715
8755787	Creb3l4	cAMP responsive element binding protein 3 like 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8755787	Creb3l4	cAMP responsive element binding protein 3 like 4	gene	DOID:4362	cervical cancer		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8755787	Creb3l4	cAMP responsive element binding protein 3 like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755787	Creb3l4	cAMP responsive element binding protein 3 like 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8755787	Creb3l4	cAMP responsive element binding protein 3 like 4	gene	DOID:8634	prostate carcinoma in situ	severity	ISO	RGD:1347233	D	RGD:9068941	20200609	RGD			PMID:17270658|REF_RGD_ID:13504714
8755787	Creb3l4	cAMP responsive element binding protein 3 like 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1347233	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27415467
8755787	Creb3l4	cAMP responsive element binding protein 3 like 4	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1347233	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27415467
8755787	Creb3l4	cAMP responsive element binding protein 3 like 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8755787	Creb3l4	cAMP responsive element binding protein 3 like 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8755787	Creb3l4	cAMP responsive element binding protein 3 like 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8755787	Creb3l4	cAMP responsive element binding protein 3 like 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8755809	Nalf1	NALCN channel auxiliary factor 1	gene	DOID:1115	sarcoma		ISO	RGD:2293495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8755809	Nalf1	NALCN channel auxiliary factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:2293495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8755809	Nalf1	NALCN channel auxiliary factor 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:2293495	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition	PMID:25741868
8755809	Nalf1	NALCN channel auxiliary factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2293495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755809	Nalf1	NALCN channel auxiliary factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2293495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8755809	Nalf1	NALCN channel auxiliary factor 1	gene	DOID:7475	diverticulitis		ISO	RGD:2293495	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28585551
8755809	Nalf1	NALCN channel auxiliary factor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2293495	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868
8755809	Nalf1	NALCN channel auxiliary factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2293495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8755833	Slc44a5	solute carrier family 44 member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8755833	Slc44a5	solute carrier family 44 member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1604721	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8755833	Slc44a5	solute carrier family 44 member 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8755833	Slc44a5	solute carrier family 44 member 5	gene	DOID:1324	lung cancer		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8755833	Slc44a5	solute carrier family 44 member 5	gene	DOID:1909	melanoma		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8755833	Slc44a5	solute carrier family 44 member 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8755833	Slc44a5	solute carrier family 44 member 5	gene	DOID:4362	cervical cancer		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8755833	Slc44a5	solute carrier family 44 member 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1604721	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8755833	Slc44a5	solute carrier family 44 member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755833	Slc44a5	solute carrier family 44 member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8755833	Slc44a5	solute carrier family 44 member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8755864	Adamtsl3	ADAMTS like 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8755864	Adamtsl3	ADAMTS like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8755864	Adamtsl3	ADAMTS like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8755864	Adamtsl3	ADAMTS like 3	gene	DOID:1115	sarcoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8755864	Adamtsl3	ADAMTS like 3	gene	DOID:1324	lung cancer		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8755864	Adamtsl3	ADAMTS like 3	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1313018	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
8755864	Adamtsl3	ADAMTS like 3	gene	DOID:1909	melanoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8755864	Adamtsl3	ADAMTS like 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8755864	Adamtsl3	ADAMTS like 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8755864	Adamtsl3	ADAMTS like 3	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1313018	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
8755864	Adamtsl3	ADAMTS like 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8755864	Adamtsl3	ADAMTS like 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8755864	Adamtsl3	ADAMTS like 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1313018	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8755864	Adamtsl3	ADAMTS like 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8755864	Adamtsl3	ADAMTS like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8755864	Adamtsl3	ADAMTS like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8755903	Fbxl6	F-box and leucine rich repeat protein 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8755903	Fbxl6	F-box and leucine rich repeat protein 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8755903	Fbxl6	F-box and leucine rich repeat protein 6	gene	DOID:1115	sarcoma		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8755903	Fbxl6	F-box and leucine rich repeat protein 6	gene	DOID:1909	melanoma		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8755903	Fbxl6	F-box and leucine rich repeat protein 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8755903	Fbxl6	F-box and leucine rich repeat protein 6	gene	DOID:2394	ovarian cancer		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8755903	Fbxl6	F-box and leucine rich repeat protein 6	gene	DOID:4362	cervical cancer		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8755903	Fbxl6	F-box and leucine rich repeat protein 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8755903	Fbxl6	F-box and leucine rich repeat protein 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8755903	Fbxl6	F-box and leucine rich repeat protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755903	Fbxl6	F-box and leucine rich repeat protein 6	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8755903	Fbxl6	F-box and leucine rich repeat protein 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8755903	Fbxl6	F-box and leucine rich repeat protein 6	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8755903	Fbxl6	F-box and leucine rich repeat protein 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8755918	Fkbp6	FKBP prolyl isomerase family member 6 (inactive)	gene	DOID:0070576	spermatogenic failure 77		ISO	RGD:1318976	D	RGD:7240710	20221102	OMIM			
8755918	Fkbp6	FKBP prolyl isomerase family member 6 (inactive)	gene	DOID:0070576	spermatogenic failure 77		ISO	RGD:1318976	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 77	PMID:25741868
8755918	Fkbp6	FKBP prolyl isomerase family member 6 (inactive)	gene	DOID:12336	male infertility		ISO	RGD:1308926	D	RGD:9068941	20260521	RGD		DNA:deletion:exon (rat)	PMID:12764197|REF_RGD_ID:1582485
8755918	Fkbp6	FKBP prolyl isomerase family member 6 (inactive)	gene	DOID:12336	male infertility		ISO	RGD:1318977	D	RGD:9068941	20260521	RGD			PMID:12764197|REF_RGD_ID:1582485
8755918	Fkbp6	FKBP prolyl isomerase family member 6 (inactive)	gene	DOID:1928	Williams-Beuren syndrome		ISO	RGD:1318976	D	RGD:9068941	20250724	RGD			PMID:9782077|REF_RGD_ID:1582483
8755918	Fkbp6	FKBP prolyl isomerase family member 6 (inactive)	gene	DOID:630	genetic disease		ISO	RGD:1318976	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8755931	Nsmce3	NSE3 component of SMC5/6 complex	gene	DOID:9001610	Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome		ISO	RGD:1319419	D	RGD:7240710	20190315	OMIM			
8755936	Sh3gl3	SH3 domain containing GRB2 like 3, endophilin A3	gene	DOID:1115	sarcoma		ISO	RGD:731323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8755936	Sh3gl3	SH3 domain containing GRB2 like 3, endophilin A3	gene	DOID:5041	esophageal cancer		ISO	RGD:731323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8755936	Sh3gl3	SH3 domain containing GRB2 like 3, endophilin A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:68649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:0060058	lymphoma		ISO	RGD:68649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:0060998	striatal degeneration 2		ISO	RGD:68649	D	RGD:7240710	20190315	OMIM			
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:0060998	striatal degeneration 2		ISO	RGD:68649	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 | ClinVar Annotator: match by term: Striatal degeneration, autosomal dominant 2	PMID:25741868|PMID:27058447|PMID:28492532|PMID:29165877
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:0081292	traumatic brain injury		ISO	RGD:68434	D	RGD:9068941	20200609	RGD			PMID:29215295|REF_RGD_ID:13513923
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:10534	stomach cancer		ISO	RGD:68649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:1059	intellectual disability		ISO	RGD:68649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:1115	sarcoma		ISO	RGD:68649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:1909	melanoma		ISO	RGD:68649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:68649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:68649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:5041	esophageal cancer		ISO	RGD:68649	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:68649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:6039	uveal melanoma		ISO	RGD:68649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:630	genetic disease		ISO	RGD:68649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:9004996	Infantile-Onset Limb and Orofacial Dyskinesia		ISO	RGD:68649	D	RGD:7240710	20190315	OMIM			
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:9004996	Infantile-Onset Limb and Orofacial Dyskinesia		ISO	RGD:68649	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET | ClinVar Annotator: match by term: Dyskinesia, limb and orofacial, infantile-onset | ClinVar Annotator: match by term: PDE10A-related condition	PMID:25741868|PMID:28492532|PMID:32581362
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:68649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:68649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8755955	Pde10a	phosphodiesterase 10A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8756003	Clec4f	C-type lectin domain family 4 member F	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756003	Clec4f	C-type lectin domain family 4 member F	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8756003	Clec4f	C-type lectin domain family 4 member F	gene	DOID:1115	sarcoma		ISO	RGD:1354444	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8756003	Clec4f	C-type lectin domain family 4 member F	gene	DOID:1909	melanoma		ISO	RGD:1354444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8756003	Clec4f	C-type lectin domain family 4 member F	gene	DOID:3275	thymoma		ISO	RGD:1354444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8756003	Clec4f	C-type lectin domain family 4 member F	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8756003	Clec4f	C-type lectin domain family 4 member F	gene	DOID:5041	esophageal cancer		ISO	RGD:1354444	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8756003	Clec4f	C-type lectin domain family 4 member F	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8756003	Clec4f	C-type lectin domain family 4 member F	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1354444	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8756003	Clec4f	C-type lectin domain family 4 member F	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8756003	Clec4f	C-type lectin domain family 4 member F	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8756023	Ushbp1	USH1 protein network component harmonin binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8756023	Ushbp1	USH1 protein network component harmonin binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756023	Ushbp1	USH1 protein network component harmonin binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1322004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8756023	Ushbp1	USH1 protein network component harmonin binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1322004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8756023	Ushbp1	USH1 protein network component harmonin binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1322004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8756023	Ushbp1	USH1 protein network component harmonin binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8756065	Vsir	V-set immunoregulatory receptor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1605963	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8756104	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8756104	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756104	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:10534	stomach cancer		ISO	RGD:1354500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8756104	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8756104	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8756104	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:4362	cervical cancer		ISO	RGD:1354500	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8756104	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8756104	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8756104	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8756104	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1354500	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8756104	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8756104	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8756104	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:9775	diastolic heart failure		ISO	RGD:1354500	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
8756132	Nmral1	NmrA like redox sensor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8756132	Nmral1	NmrA like redox sensor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8756132	Nmral1	NmrA like redox sensor 1	gene	DOID:1909	melanoma		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8756132	Nmral1	NmrA like redox sensor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8756132	Nmral1	NmrA like redox sensor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8756132	Nmral1	NmrA like redox sensor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8756132	Nmral1	NmrA like redox sensor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8756132	Nmral1	NmrA like redox sensor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8756146	Cnbd1	cyclic nucleotide binding domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8756146	Cnbd1	cyclic nucleotide binding domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756146	Cnbd1	cyclic nucleotide binding domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8756146	Cnbd1	cyclic nucleotide binding domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1603547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8756146	Cnbd1	cyclic nucleotide binding domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1603547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8756146	Cnbd1	cyclic nucleotide binding domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1603547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8756146	Cnbd1	cyclic nucleotide binding domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8756146	Cnbd1	cyclic nucleotide binding domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603547	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8756146	Cnbd1	cyclic nucleotide binding domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8756146	Cnbd1	cyclic nucleotide binding domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8756162	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756162	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:10534	stomach cancer		ISO	RGD:1603979	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8756162	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8756162	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:1909	melanoma		ISO	RGD:1603979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8756162	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8756162	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:4362	cervical cancer		ISO	RGD:1603979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8756162	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8756162	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:5041	esophageal cancer		ISO	RGD:1603979	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8756162	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8756162	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8756162	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8756162	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8756162	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:9008236	Ritscher-Schinzel Syndrome 3		ISO	RGD:1603979	D	RGD:7240710	20210113	OMIM			
8756162	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:9008236	Ritscher-Schinzel Syndrome 3		ISO	RGD:1603979	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RITSCHER-SCHINZEL SYNDROME 3 | ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 3 | ClinVar Annotator: match by term: VPS35L-related condition	PMID:25741868
8756162	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0050771	pheochromocytoma		ISO	RGD:1354327	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma	PMID:22517554|PMID:25741868|PMID:28492532
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0050773	paraganglioma		ISO	RGD:1354327	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:12658451|PMID:12807974|PMID:15989954|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29386252|PMID:29878124|PMID:30050099|PMID:30548481|PMID:31194233|PMID:31308404|PMID:32688340|PMID:33332384|PMID:33748650|PMID:34558728|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0050773	paraganglioma		ISO	RGD:1354327	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29386252|PMID:29878124|PMID:30050099|PMID:30548481|PMID:31194233|PMID:31308404|PMID:32035780|PMID:32688340|PMID:33332384|PMID:33748650|PMID:34558728|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0050773	paraganglioma		ISO	RGD:1354327	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18491383|PMID:19245779|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:21106325|PMID:21173220|PMID:21822798|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25787132|PMID:25950479|PMID:26173966|PMID:26198225|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29305721|PMID:29386252|PMID:29504908|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31308404|PMID:32035780|PMID:32688340|PMID:33332384|PMID:33748650|PMID:34110302|PMID:34439371|PMID:34558728|PMID:34750850|PMID:35171114|PMID:35441217|PMID:36091175|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0050773	paraganglioma		ISO	RGD:1354327	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:19245779|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:21106325|PMID:21173220|PMID:21822798|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26198225|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29305721|PMID:29386252|PMID:29504908|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32688340|PMID:33332384|PMID:33748650|PMID:34110302|PMID:34558728|PMID:34750850|PMID:35171114|PMID:35441217|PMID:36091175|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0050773	paraganglioma		ISO	RGD:1354327	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:19245779|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:21106325|PMID:21173220|PMID:21822798|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29305721|PMID:29386252|PMID:29504908|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32688340|PMID:32751108|PMID:33332384|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34703596|PMID:34750850|PMID:35171114|PMID:35441217|PMID:35739278|PMID:36045543|PMID:36091175|PMID:36198483|PMID:36449569|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0050773	paraganglioma		ISO	RGD:1354327	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:19245779|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:21106325|PMID:21173220|PMID:21822798|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29305721|PMID:29386252|PMID:29504908|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32688340|PMID:32751108|PMID:33332384|PMID:33676450|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34703596|PMID:34750850|PMID:35171114|PMID:35441217|PMID:35739278|PMID:36045543|PMID:36091175|PMID:36198483|PMID:36449569|PMID:36672771|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0050773	paraganglioma		ISO	RGD:1354327	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:11062460|PMID:12658451|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:19245779|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:21106325|PMID:21173220|PMID:21822798|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29305721|PMID:29386252|PMID:29504908|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32688340|PMID:32751108|PMID:33332384|PMID:33676450|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34703596|PMID:34750850|PMID:35171114|PMID:35441217|PMID:35739278|PMID:36045543|PMID:36091175|PMID:36198483|PMID:36449569|PMID:36672771|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0050773	paraganglioma		ISO	RGD:1354327	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas	PMID:12658451|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:21106325|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23282968|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24523625|PMID:24625421|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26259135|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27011036|PMID:27262318|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29878124|PMID:30050099|PMID:30201732|PMID:31194233|PMID:31308404|PMID:32751108|PMID:33676450|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34703596|PMID:34750850|PMID:35739278|PMID:36045543|PMID:36198483|PMID:36449569|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0061218	pheochromocytoma/paraganglioma syndrome 3		ISO	RGD:1354327	D	RGD:7240710	20180130	OMIM			
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0061218	pheochromocytoma/paraganglioma syndrome 3		ISO	RGD:1354327	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3 | ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:19245779|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:21106325|PMID:21173220|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25720320|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29305721|PMID:29386252|PMID:29504908|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32688340|PMID:32751108|PMID:33332384|PMID:33372952|PMID:33676450|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34703596|PMID:34750850|PMID:35171114|PMID:35441217|PMID:35739278|PMID:36045543|PMID:36091175|PMID:36198483|PMID:36449569|PMID:36672771|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0061218	pheochromocytoma/paraganglioma syndrome 3		ISO	RGD:1354327	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3 | ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 3 | ClinVar Annotator: match by term: paragangliomas 3	PMID:11062460|PMID:12658451|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:21106325|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23282968|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25720320|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26259135|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27011036|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30877234|PMID:31194233|PMID:31308404|PMID:31666924|PMID:32751108|PMID:33676450|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34703596|PMID:34750850|PMID:35171114|PMID:35739278|PMID:36045543|PMID:36198483|PMID:36449569|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0080533	Carney-Stratakis syndrome		ISO	RGD:1354327	D	RGD:7240710	20180130	OMIM			
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0080533	Carney-Stratakis syndrome		ISO	RGD:1354327	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor	PMID:12658451|PMID:12807974|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19454582|PMID:21173220|PMID:23083876|PMID:23282968|PMID:23342407|PMID:24033266|PMID:24402737|PMID:24423348|PMID:24523625|PMID:24758179|PMID:25024072|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27700540|PMID:28492532|PMID:28819017|PMID:30548481|PMID:34750850|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0080533	Carney-Stratakis syndrome		ISO	RGD:1354327	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: PARAGANGLIOMA AND GASTROINTESTINAL STROMAL TUMOR	PMID:17667967|PMID:17898811|PMID:19351833|PMID:19454582|PMID:19546167|PMID:21106325|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23282968|PMID:24033266|PMID:24423348|PMID:24523625|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25741868|PMID:26467025|PMID:26492543|PMID:27011036|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29878124|PMID:30050099|PMID:31194233|PMID:33748650|PMID:34558728|PMID:34750850|PMID:36449569
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:10283	prostate cancer		ISO	RGD:1354327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:25741868|PMID:28492532|PMID:29641532
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:1059	intellectual disability		ISO	RGD:1354327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:11062460|PMID:16249420|PMID:19351833|PMID:19454582|PMID:22351710|PMID:22517554|PMID:23282968|PMID:25720320|PMID:25741868|PMID:28492532|PMID:30201732|PMID:30877234
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:12849	autistic disorder		ISO	RGD:1354327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:11062460|PMID:16249420|PMID:19351833|PMID:19454582|PMID:22351710|PMID:22517554|PMID:23282968|PMID:25720320|PMID:25741868|PMID:28492532|PMID:30201732|PMID:30877234
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:1354327	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma	PMID:23083876|PMID:24423348|PMID:24758179|PMID:25741868|PMID:27700540|PMID:28492532|PMID:33372952
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:3459	breast carcinoma		ISO	RGD:1354327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:28492532|PMID:29641532
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:3652	Leigh disease		ISO	RGD:1553681	D	RGD:9068941	20220825	MouseDO		OMIM:256000	
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:3908	lung non-small cell carcinoma	exacerbates	ISO	RGD:1354327	D	RGD:9068941	20210820	RGD		DNA:SNP: 3'utr (rs12064957) (human)	PMID:25576295|REF_RGD_ID:150340558
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1354327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9005607	Hereditary Paraganglioma-Pheochromocytoma Syndromes		ISO	RGD:1354327	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	PMID:12658451|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:21106325|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23282968|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24523625|PMID:24625421|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26259135|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27011036|PMID:27262318|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:31194233|PMID:31308404|PMID:32751108|PMID:33676450|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34703596|PMID:34750850|PMID:35739278|PMID:36045543|PMID:36198483|PMID:36449569|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354327	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11062460|PMID:12658451|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17376234|PMID:17576681|PMID:17667967|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:21822798|PMID:21979946|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:31308404|PMID:34558728|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354327	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17376234|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:31308404|PMID:34558728|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354327	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26173966|PMID:26198225|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33397043|PMID:33748650|PMID:34558728|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354327	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26173966|PMID:26198225|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33397043|PMID:33748650|PMID:34558728|PMID:34663632|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354327	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18267044|PMID:18491383|PMID:18681855|PMID:19245779|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25720320|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27854218|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29305721|PMID:29386252|PMID:29504908|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32144272|PMID:32688340|PMID:32751108|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33525650|PMID:33676450|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34663632|PMID:34703596|PMID:34750850|PMID:35171114|PMID:35441217|PMID:35739278|PMID:36045543|PMID:36091175|PMID:36198483|PMID:36449569|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354327	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18267044|PMID:18491383|PMID:18681855|PMID:19245779|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25720320|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29305721|PMID:29386252|PMID:29504908|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32144272|PMID:32688340|PMID:32751108|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33525650|PMID:33676450|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34663632|PMID:34703596|PMID:34750850|PMID:35171114|PMID:35441217|PMID:35739278|PMID:36045543|PMID:36091175|PMID:36198483|PMID:36449569|PMID:36672771|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354327	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18267044|PMID:18491383|PMID:18681855|PMID:19245779|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25720320|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29305721|PMID:29386252|PMID:29504908|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32144272|PMID:32688340|PMID:32751108|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33525650|PMID:33676450|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34663632|PMID:34703596|PMID:34750850|PMID:35171114|PMID:35441217|PMID:35739278|PMID:36045543|PMID:36091175|PMID:36198483|PMID:36449569|PMID:36672771|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18267044|PMID:18491383|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:21106325|PMID:21173220|PMID:21822798|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24625421|PMID:24758179|PMID:24781345|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25720320|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26273102|PMID:26467025|PMID:27011036|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30877234|PMID:31194233|PMID:31308404|PMID:31666924|PMID:32751108|PMID:33525650|PMID:33676450|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34703596|PMID:35739278|PMID:36045543|PMID:36198483|PMID:36449569|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354327	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18267044|PMID:18491383|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:21106325|PMID:21173220|PMID:21822798|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24523625|PMID:24625421|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25720320|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27011036|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30877234|PMID:31194233|PMID:31308404|PMID:31666924|PMID:32751108|PMID:33525650|PMID:33676450|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34703596|PMID:34750850|PMID:35739278|PMID:36045543|PMID:36198483|PMID:36449569|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9007167	Carney Triad		ISO	RGD:1354327	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Carney triad	PMID:12658451|PMID:17576681|PMID:17667967|PMID:17804857|PMID:19351833|PMID:21173220|PMID:21822798|PMID:24402737|PMID:24758179|PMID:26173966|PMID:28492532|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1354327	D	RGD:7240710	20180130	OMIM			
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1354327	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17376234|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26162468|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27485256|PMID:27700540|PMID:27867439|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33748650|PMID:34558728|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1354327	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25787132|PMID:25950479|PMID:25950813|PMID:26162468|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27485256|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33748650|PMID:34558728|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1354327	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25787132|PMID:25950479|PMID:25950813|PMID:26162468|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27485256|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33748650|PMID:34558728|PMID:35441217|PMID:9536098
8756208	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1354327	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19763152|PMID:20307669|PMID:21106325|PMID:21520333|PMID:22136840|PMID:22351710|PMID:22406018|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24523625|PMID:24625421|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25640679|PMID:25720320|PMID:25741868|PMID:25950479|PMID:26162468|PMID:26173966|PMID:26259135|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27011036|PMID:27262318|PMID:27279923|PMID:27485256|PMID:27700540|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28552549|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32462735|PMID:32688340|PMID:32751108|PMID:33397043|PMID:33676450|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34703596|PMID:34750850|PMID:35739278|PMID:36045543|PMID:36198483|PMID:36449569|PMID:37873498|PMID:9536098
8756240	Sorcs3	sortilin related VPS10 domain containing receptor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756240	Sorcs3	sortilin related VPS10 domain containing receptor 3	gene	DOID:1115	sarcoma		ISO	RGD:1322178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8756240	Sorcs3	sortilin related VPS10 domain containing receptor 3	gene	DOID:1324	lung cancer		ISO	RGD:1322178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8756240	Sorcs3	sortilin related VPS10 domain containing receptor 3	gene	DOID:3070	high grade glioma		ISO	RGD:1322178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8756240	Sorcs3	sortilin related VPS10 domain containing receptor 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1322178	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8756240	Sorcs3	sortilin related VPS10 domain containing receptor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8756279	Pofut4	protein O-fucosyltransferase 4	gene	DOID:10534	stomach cancer		ISO	RGD:735764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8756279	Pofut4	protein O-fucosyltransferase 4	gene	DOID:10534	stomach cancer	severity	ISO	RGD:735764	D	RGD:9068941	20231104	RGD		mRNA, protein:increased expression:stomach (human)	PMID:37483811|REF_RGD_ID:401854242
8756279	Pofut4	protein O-fucosyltransferase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8756279	Pofut4	protein O-fucosyltransferase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8756279	Pofut4	protein O-fucosyltransferase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8756279	Pofut4	protein O-fucosyltransferase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:0050902	medulloblastoma		ISO	RGD:733899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma	PMID:19409520|PMID:25741868|PMID:26023681|PMID:28123851|PMID:28492532|PMID:31794323|PMID:31980526|PMID:32658311|PMID:33471991
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:10534	stomach cancer		ISO	RGD:733899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:10787	premature menopause		ISO	RGD:733899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature menopause	PMID:16385572|PMID:25503501|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30924587|PMID:31159747|PMID:31980526|PMID:32658311|PMID:33471991|PMID:35534704
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:1115	sarcoma		ISO	RGD:733899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:11830	myopia		ISO	RGD:733899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:26689913|PMID:28492532|PMID:35089076|PMID:35250968
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:733899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:1612	breast cancer		ISO	RGD:733899	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:16385572|PMID:19409520|PMID:25452441|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26822949|PMID:26824983|PMID:28492532|PMID:29566657|PMID:29726012|PMID:29785153|PMID:30755392|PMID:31742824|PMID:32832836|PMID:33378670
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:2152	ovary epithelial cancer		ISO	RGD:733899	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epithelial ovarian cancer	PMID:19409520|PMID:21778326|PMID:25741868|PMID:26689913|PMID:28376765|PMID:28492532
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:733899	D	RGD:9068941	20200609	RGD		upper urinary tract urothelial cell carcinoma; DNA:mutation:tumor:associated with microsatellite instability	PMID:16288216|REF_RGD_ID:2293511
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:2841	asthma		ISO	RGD:733899	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24241537
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:733899	D	RGD:9068941	20200609	RGD		protein:decreased expression:tumor:reduced in 28% vs adjacent or independent normal breast tissue	PMID:14511253|REF_RGD_ID:2300250
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:3459	breast carcinoma		ISO	RGD:733899	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:19409520|PMID:25741868|PMID:26023681|PMID:26467025|PMID:26689913|PMID:28123851|PMID:28492532|PMID:31794323|PMID:31980526|PMID:32658311|PMID:33471991|PMID:35089076|PMID:35250968
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:5041	esophageal cancer		ISO	RGD:733899	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:5082	liver cirrhosis	treatment	ISO	RGD:621542	D	RGD:9068941	20200609	RGD			PMID:21893185|REF_RGD_ID:9831391
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:733899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:16385572|PMID:25503501|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30924587|PMID:31159747|PMID:31980526|PMID:32658311|PMID:33471991|PMID:35534704
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733899	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24240112|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:28492532|PMID:28550065|PMID:29338689|PMID:29752822|PMID:30306255|PMID:30441849|PMID:31159747|PMID:31666926|PMID:32295079|PMID:32566746
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733899	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:18281469|PMID:19409520|PMID:23555315|PMID:24240112|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:28492532|PMID:28550065|PMID:29338689|PMID:29752822|PMID:30306255|PMID:30441849|PMID:31159747|PMID:31666926|PMID:32295079|PMID:32566746
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733899	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24240112|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:28492532|PMID:28550065|PMID:28873162|PMID:29338689|PMID:29566657|PMID:29752822|PMID:29961768|PMID:30306255|PMID:30441849|PMID:30755392|PMID:31159747|PMID:31666926|PMID:31742824|PMID:32019284|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32984025|PMID:33378670|PMID:33471991
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733899	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:28492532|PMID:28550065|PMID:28873162|PMID:29338689|PMID:29566657|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29961768|PMID:30306255|PMID:30441849|PMID:30755392|PMID:31159747|PMID:31666926|PMID:31742824|PMID:32019284|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32984025|PMID:33378670|PMID:33471991
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733899	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:27913932|PMID:28492532|PMID:28550065|PMID:28873162|PMID:29338689|PMID:29566657|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29961768|PMID:30306255|PMID:30441849|PMID:30755392|PMID:31159747|PMID:31589614|PMID:31666926|PMID:31742824|PMID:32019284|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32984025|PMID:33378670|PMID:33471991|PMID:34567246|PMID:35884469
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733899	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24763289|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:27913932|PMID:28492532|PMID:28550065|PMID:28873162|PMID:29338689|PMID:29566657|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29961768|PMID:30306255|PMID:30441849|PMID:30755392|PMID:31159747|PMID:31589614|PMID:31666926|PMID:31742824|PMID:32019284|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32854451|PMID:32984025|PMID:33378670|PMID:33471991|PMID:33563768|PMID:34567246|PMID:35884469|PMID:37262986
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733899	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16199547|PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24763289|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:27913932|PMID:28492532|PMID:28550065|PMID:28873162|PMID:29338689|PMID:29566657|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29961768|PMID:30306255|PMID:30441849|PMID:30755392|PMID:31159747|PMID:31589614|PMID:31666926|PMID:31742824|PMID:32019284|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32854451|PMID:32984025|PMID:33378670|PMID:33471991|PMID:33563768|PMID:34567246|PMID:35534218|PMID:35884469|PMID:36135357|PMID:37262986
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733899	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16199547|PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24763289|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:27913932|PMID:28492532|PMID:28550065|PMID:28873162|PMID:29338689|PMID:29566657|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29961768|PMID:30306255|PMID:30441849|PMID:30755392|PMID:31159747|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31911633|PMID:32019284|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32854451|PMID:32984025|PMID:33378670|PMID:33471991|PMID:33563768|PMID:34567246|PMID:35534218|PMID:35534704|PMID:35884469|PMID:35957908|PMID:36135357|PMID:37262986|PMID:38091153
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733899	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16199547|PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24763289|PMID:24894818|PMID:25452441|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26787654|PMID:26824983|PMID:27783279|PMID:27913932|PMID:28492532|PMID:28550065|PMID:28873162|PMID:29338689|PMID:29566657|PMID:29726012|PMID:29785153|PMID:29961768|PMID:30306255|PMID:30441849|PMID:30755392|PMID:31159747|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31911633|PMID:32019284|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32854451|PMID:32984025|PMID:33378670|PMID:33471991|PMID:33563768|PMID:34567246|PMID:35534218|PMID:35534704|PMID:35884469|PMID:35957908|PMID:36135357|PMID:37262986|PMID:38091153
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16199547|PMID:16385572|PMID:18281469|PMID:19409520|PMID:24894818|PMID:25452441|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26824983|PMID:27783279|PMID:28492532|PMID:29338689|PMID:29566657|PMID:29726012|PMID:29785153|PMID:29961768|PMID:30755392|PMID:31159747|PMID:31589614|PMID:31666926|PMID:31742824|PMID:32295079|PMID:32566746|PMID:32832836|PMID:33378670|PMID:35884469
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733899	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16199547|PMID:16385572|PMID:18281469|PMID:19409520|PMID:24894818|PMID:25452441|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26824983|PMID:27783279|PMID:28492532|PMID:29338689|PMID:29566657|PMID:29726012|PMID:29785153|PMID:29961768|PMID:30755392|PMID:31159747|PMID:31589614|PMID:31666926|PMID:31742824|PMID:32832836|PMID:33378670|PMID:35884469
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:621542	D	RGD:9068941	20200609	RGD			PMID:15623426|REF_RGD_ID:9831390
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733899	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:16385572|PMID:18281469|PMID:19409520|PMID:24894818|PMID:25452441|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29961768|PMID:31159747|PMID:31589614
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:7998	hyperthyroidism		ISO	RGD:733899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:16385572|PMID:19409520|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30924587|PMID:31159747|PMID:31980526|PMID:32658311|PMID:33471991|PMID:35534704
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:733899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian neoplasm	PMID:25741868|PMID:26689913|PMID:28492532|PMID:35089076|PMID:35250968
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733899	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10415333|PMID:10892749|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19092773|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25828805|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:28051113|PMID:28102005|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29484706|PMID:29506128|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30283497|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30630526|PMID:30680046|PMID:30788456|PMID:30982232|PMID:31159747|PMID:31512090|PMID:31666926|PMID:31921681|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32854451|PMID:33240314|PMID:33471991|PMID:33606809|PMID:34371384|PMID:9536098
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733899	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10892749|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:28051113|PMID:28102005|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29484706|PMID:29506128|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30283497|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30788456|PMID:30982232|PMID:31159747|PMID:31512090|PMID:31666926|PMID:31921681|PMID:32187176|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32854451|PMID:33240314|PMID:33471991|PMID:33606809|PMID:34371384|PMID:9536098
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733899	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10892749|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20600922|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21757780|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22204421|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27009842|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29895855|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30755392|PMID:30765449|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31068370|PMID:31159747|PMID:31345636|PMID:31512090|PMID:31666926|PMID:31721094|PMID:31742824|PMID:31794323|PMID:31921681|PMID:31980526|PMID:32008151|PMID:32019284|PMID:32077636|PMID:32187176|PMID:32255556|PMID:32295079|PMID:32332016|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32832836|PMID:32854451|PMID:32984025|PMID:33134171|PMID:33240314|PMID:33378670|PMID:33471991|PMID:33606809|PMID:33606978|PMID:33754015|PMID:34371384|PMID:34572942|PMID:9536098
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733899	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10892749|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20600922|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21757780|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22204421|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27009842|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:28050010|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29895855|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30755392|PMID:30765449|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31068370|PMID:31159747|PMID:31345636|PMID:31512090|PMID:31589614|PMID:31666926|PMID:31721094|PMID:31742824|PMID:31794323|PMID:31911633|PMID:31921681|PMID:31980526|PMID:32008151|PMID:32019284|PMID:32077636|PMID:32187176|PMID:32255556|PMID:32295079|PMID:32332016|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32832836|PMID:32854451|PMID:32984025|PMID:33099839|PMID:33134171|PMID:33240314|PMID:33378670|PMID:33421217|PMID:33471991|PMID:33606809|PMID:33606978|PMID:33754015|PMID:34371384|PMID:34567246|PMID:34572942|PMID:34716202|PMID:35186721|PMID:35187501|PMID:35626031|PMID:35884469|PMID:36035419|PMID:9536098
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733899	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10892749|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20600922|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21757780|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22204421|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27009842|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:28050010|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29895855|PMID:29926297|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30755392|PMID:30765449|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31068370|PMID:31159747|PMID:31345636|PMID:31360874|PMID:31512090|PMID:31589614|PMID:31666926|PMID:31721094|PMID:31742824|PMID:31794323|PMID:31911633|PMID:31921681|PMID:31980526|PMID:32008151|PMID:32019284|PMID:32077636|PMID:32187176|PMID:32255556|PMID:32295079|PMID:32332016|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32832836|PMID:32854451|PMID:32984025|PMID:33099839|PMID:33134171|PMID:33240314|PMID:33378670|PMID:33421217|PMID:33471991|PMID:33606809|PMID:33606978|PMID:33754015|PMID:34371384|PMID:34567246|PMID:34572942|PMID:34716202|PMID:35089076|PMID:35186721|PMID:35187501|PMID:35250968|PMID:35626031|PMID:35884469|PMID:36035419|PMID:9536098
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733899	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10892749|PMID:12023982|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20600922|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21757780|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22204421|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27009842|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29053726|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29895855|PMID:29926297|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30311369|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30755392|PMID:30765449|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31068370|PMID:31138192|PMID:31159747|PMID:31308508|PMID:31345636|PMID:31360874|PMID:31512090|PMID:31589614|PMID:31666926|PMID:31721094|PMID:31742824|PMID:31794323|PMID:31911633|PMID:31921681|PMID:31980526|PMID:32008151|PMID:32019284|PMID:32077636|PMID:32187176|PMID:32255556|PMID:32295079|PMID:32313009|PMID:32332016|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32668560|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32984025|PMID:32994724|PMID:33099839|PMID:33134171|PMID:33240314|PMID:33339169|PMID:33378670|PMID:33421217|PMID:33471991|PMID:33563768|PMID:33606809|PMID:33606978|PMID:33754015|PMID:34371384|PMID:34567246|PMID:34572942|PMID:34598035|PMID:34716202|PMID:35089076|PMID:35186721|PMID:35187501|PMID:35220195|PMID:35250968|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35884469|PMID:36035419|PMID:36135357|PMID:36139606|PMID:36315513|PMID:36818284|PMID:37262986|PMID:9536098
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733899	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10892749|PMID:12023982|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20600922|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21757780|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22204421|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27009842|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28134932|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29053726|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29895855|PMID:29926297|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30311369|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30755392|PMID:30765449|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31068370|PMID:31138192|PMID:31159747|PMID:31308508|PMID:31345636|PMID:31360874|PMID:31512090|PMID:31589614|PMID:31666926|PMID:31721094|PMID:31742824|PMID:31794323|PMID:31911633|PMID:31921681|PMID:31980526|PMID:32008151|PMID:32019284|PMID:32077636|PMID:32187176|PMID:32255556|PMID:32295079|PMID:32313009|PMID:32332016|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32668560|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32984025|PMID:32994724|PMID:33099839|PMID:33134171|PMID:33240314|PMID:33339169|PMID:33378670|PMID:33421217|PMID:33471991|PMID:33563768|PMID:33606809|PMID:33606978|PMID:33754015|PMID:34371384|PMID:34567246|PMID:34572942|PMID:34598035|PMID:34646395|PMID:34716202|PMID:35089076|PMID:35186721|PMID:35187501|PMID:35220195|PMID:35250968|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35884469|PMID:36035419|PMID:36135357|PMID:36139606|PMID:36315513|PMID:36818284|PMID:37262986|PMID:9536098
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733899	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10892749|PMID:12023982|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20600922|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21757780|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22204421|PMID:22216297|PMID:22406018|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27009842|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28134932|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29053726|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29895855|PMID:29926297|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30311369|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30755392|PMID:30765449|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31068370|PMID:31138192|PMID:31159747|PMID:31308508|PMID:31345636|PMID:31360874|PMID:31512090|PMID:31589614|PMID:31666926|PMID:31721094|PMID:31742824|PMID:31794323|PMID:31911633|PMID:31921681|PMID:31980526|PMID:32008151|PMID:32019284|PMID:32077636|PMID:32187176|PMID:32255556|PMID:32295079|PMID:32313009|PMID:32332016|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32668560|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32984025|PMID:32994724|PMID:33099839|PMID:33134171|PMID:33240314|PMID:33339169|PMID:33378670|PMID:33421217|PMID:33471991|PMID:33563768|PMID:33606809|PMID:33606978|PMID:33754015|PMID:34371384|PMID:34567246|PMID:34572942|PMID:34598035|PMID:34646395|PMID:34716202|PMID:35089076|PMID:35186721|PMID:35187501|PMID:35220195|PMID:35250968|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35884469|PMID:36035419|PMID:36135357|PMID:36139606|PMID:36315513|PMID:36818284|PMID:37262986|PMID:9536098
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733899	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10892749|PMID:12023982|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20600922|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21757780|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22204421|PMID:22216297|PMID:22406018|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27009842|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28134932|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29053726|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29895855|PMID:29926297|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30311369|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30755392|PMID:30765449|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31068370|PMID:31138192|PMID:31159747|PMID:31308508|PMID:31345636|PMID:31360874|PMID:31512090|PMID:31589614|PMID:31666926|PMID:31721094|PMID:31742824|PMID:31794323|PMID:31911633|PMID:31921681|PMID:31980526|PMID:32008151|PMID:32019284|PMID:32077636|PMID:32187176|PMID:32255556|PMID:32295079|PMID:32313009|PMID:32332016|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32668560|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32906206|PMID:32984025|PMID:32994724|PMID:33057194|PMID:33099839|PMID:33134171|PMID:33240314|PMID:33313162|PMID:33339169|PMID:33378670|PMID:33421217|PMID:33471991|PMID:33563768|PMID:33606809|PMID:33606978|PMID:33754015|PMID:33858029|PMID:34371384|PMID:34567246|PMID:34570441|PMID:34572942|PMID:34598035|PMID:34646395|PMID:34654685|PMID:34716202|PMID:34887416|PMID:35012940|PMID:35017683|PMID:35089076|PMID:35186721|PMID:35187501|PMID:35220195|PMID:35250968|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35884425|PMID:35884469|PMID:35957908|PMID:35982159|PMID:36035419|PMID:36135357|PMID:36139606|PMID:36315513|PMID:36451132|PMID:36641486|PMID:36818284|PMID:36980780|PMID:36982687|PMID:37262986|PMID:37794136|PMID:38091153|PMID:38127826|PMID:38355628|PMID:38509102|PMID:9536098
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733899	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10892749|PMID:12023982|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20600922|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21757780|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22204421|PMID:22216297|PMID:22406018|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27009842|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28134932|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29053726|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29895855|PMID:29926297|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30311369|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30755392|PMID:30765449|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31068370|PMID:31138192|PMID:31159747|PMID:31308508|PMID:31345636|PMID:31360874|PMID:31512090|PMID:31589614|PMID:31666926|PMID:31721094|PMID:31742824|PMID:31794323|PMID:31911633|PMID:31921681|PMID:31980526|PMID:32008151|PMID:32019284|PMID:32077636|PMID:32187176|PMID:32255556|PMID:32295079|PMID:32313009|PMID:32332016|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32668560|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32906206|PMID:32984025|PMID:32994724|PMID:33057194|PMID:33099839|PMID:33134171|PMID:33240314|PMID:33313162|PMID:33339169|PMID:33378670|PMID:33421217|PMID:33471991|PMID:33563768|PMID:33606809|PMID:33606978|PMID:33754015|PMID:33858029|PMID:34371384|PMID:34567246|PMID:34570441|PMID:34572942|PMID:34598035|PMID:34646395|PMID:34654685|PMID:34716202|PMID:34887416|PMID:35012940|PMID:35017683|PMID:35089076|PMID:35186721|PMID:35187501|PMID:35220195|PMID:35250968|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35884425|PMID:35884469|PMID:35957908|PMID:35982159|PMID:36035419|PMID:36135357|PMID:36139606|PMID:36315513|PMID:36451132|PMID:36641486|PMID:36818284|PMID:36980780|PMID:36982687|PMID:37262986|PMID:37794136|PMID:38091153|PMID:38093606|PMID:38127826|PMID:38355628|PMID:38509102|PMID:9536098
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733899	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10892749|PMID:12023982|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:18281469|PMID:1887849|PMID:19190165|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20600922|PMID:20805886|PMID:20981092|PMID:21356067|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22204421|PMID:22406018|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27782108|PMID:27783279|PMID:27884173|PMID:27913932|PMID:28050010|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28134932|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29053726|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29566657|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29895855|PMID:29926297|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30283497|PMID:30306255|PMID:30311369|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30755392|PMID:30765449|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31138192|PMID:31159747|PMID:31308508|PMID:31360874|PMID:31512090|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31794323|PMID:31911633|PMID:31921681|PMID:31980526|PMID:32019284|PMID:32077636|PMID:32187176|PMID:32255556|PMID:32295079|PMID:32313009|PMID:32332016|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32668560|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32906206|PMID:32984025|PMID:32994724|PMID:33057194|PMID:33099839|PMID:33134171|PMID:33313162|PMID:33339169|PMID:33378670|PMID:33421217|PMID:33471991|PMID:33563768|PMID:33606809|PMID:33606978|PMID:33858029|PMID:34026625|PMID:34371384|PMID:34485163|PMID:34567246|PMID:34570441|PMID:34598035|PMID:34646395|PMID:34654685|PMID:34887416|PMID:35017683|PMID:35089076|PMID:35187501|PMID:35220195|PMID:35250968|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35884425|PMID:35884469|PMID:35957908|PMID:35982159|PMID:36035419|PMID:36135357|PMID:36315513|PMID:36641486|PMID:36818284|PMID:36980780|PMID:37262986|PMID:37794136|PMID:38091153|PMID:38093606|PMID:38127826|PMID:38509102|PMID:9536098
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733899	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10892749|PMID:12208847|PMID:14684699|PMID:14698290|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:18281469|PMID:19190165|PMID:19409520|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20600922|PMID:20981092|PMID:21356067|PMID:21811815|PMID:2185891|PMID:22204421|PMID:22406018|PMID:23555315|PMID:24093751|PMID:24448499|PMID:24763289|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27153395|PMID:27328445|PMID:27720647|PMID:27783279|PMID:28050010|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28152038|PMID:28492532|PMID:28687971|PMID:28715532|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29053726|PMID:29566657|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30283497|PMID:30374176|PMID:30613976|PMID:30630526|PMID:30755392|PMID:30924587|PMID:30982232|PMID:31159747|PMID:31589614|PMID:31742824|PMID:31794323|PMID:31980526|PMID:32077636|PMID:32212377|PMID:32255556|PMID:32332016|PMID:32338768|PMID:32522261|PMID:32658311|PMID:32832836|PMID:32868316|PMID:33099839|PMID:33134171|PMID:33339169|PMID:33378670|PMID:33421217|PMID:33471991|PMID:33606978|PMID:33858029|PMID:34371384|PMID:34570441|PMID:34572942|PMID:34598035|PMID:34646395|PMID:34654685|PMID:34887416|PMID:35017683|PMID:35089076|PMID:35101336|PMID:35220195|PMID:35250968|PMID:35534704|PMID:35626031|PMID:35884425|PMID:37794136|PMID:38093606|PMID:38127826|PMID:38509102|PMID:40282418|PMID:9536098
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733899	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10892749|PMID:12208847|PMID:14684699|PMID:14698290|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:18281469|PMID:19190165|PMID:19409520|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20600922|PMID:20981092|PMID:21356067|PMID:21811815|PMID:2185891|PMID:22204421|PMID:22406018|PMID:23555315|PMID:24093751|PMID:24448499|PMID:24763289|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27153395|PMID:27328445|PMID:27720647|PMID:27783279|PMID:28050010|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28152038|PMID:28492532|PMID:28687971|PMID:28715532|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29053726|PMID:29566657|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30283497|PMID:30374176|PMID:30613976|PMID:30630526|PMID:30755392|PMID:30924587|PMID:30982232|PMID:31159747|PMID:31589614|PMID:31742824|PMID:31794323|PMID:31980526|PMID:32077636|PMID:32212377|PMID:32255556|PMID:32332016|PMID:32338768|PMID:32522261|PMID:32658311|PMID:32832836|PMID:32868316|PMID:33099839|PMID:33134171|PMID:33339169|PMID:33378670|PMID:33421217|PMID:33471991|PMID:33606978|PMID:33858029|PMID:34570441|PMID:34572942|PMID:34598035|PMID:34646395|PMID:34654685|PMID:34887416|PMID:35017683|PMID:35089076|PMID:35101336|PMID:35220195|PMID:35250968|PMID:35534704|PMID:35626031|PMID:35884425|PMID:37794136|PMID:38093606|PMID:38127826|PMID:38509102|PMID:40282418|PMID:9536098
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:9008829	Nijmegen Breakage Syndrome-Like Disorder		ISO	RGD:733899	D	RGD:7240710	20180130	OMIM			
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:9008829	Nijmegen Breakage Syndrome-Like Disorder		ISO	RGD:733899	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER | ClinVar Annotator: match by term: Nijmegen breakage syndrome-like disorder | ClinVar Annotator: match by term: RAD50 DEFICIENCY	PMID:14684699|PMID:16199547|PMID:16385572|PMID:17576681|PMID:18281469|PMID:19409520|PMID:19917125|PMID:20981092|PMID:23555315|PMID:24448499|PMID:24894818|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27153395|PMID:28050010|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28152038|PMID:28492532|PMID:28873162|PMID:29566657|PMID:29641532|PMID:29726012|PMID:29785153|PMID:29961768|PMID:30093976|PMID:30283497|PMID:30755392|PMID:30924587|PMID:31159747|PMID:31589614|PMID:31742824|PMID:31794323|PMID:31980526|PMID:32212377|PMID:32332016|PMID:32338768|PMID:32522261|PMID:32658311|PMID:32832836|PMID:33339169|PMID:33378670|PMID:33421217|PMID:33471991|PMID:35089076|PMID:35250968|PMID:35534704|PMID:40282418|PMID:9536098
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733899	D	RGD:9068941	20200609	RGD		DNA:deletion, splicing error::687delT, increased frequency in Finnish patients (8/317, p=0.008), possibly a founder mutation	PMID:16474176|REF_RGD_ID:2300220
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:9008939	Breast Neoplasms	treatment	ISO	RGD:733899	D	RGD:9068941	20200609	RGD		human gene in a rat model	PMID:11373271|REF_RGD_ID:9831192
8756295	Rad50	RAD50 double strand break repair protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733899	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:24894818|PMID:25741868|PMID:26094658|PMID:26467025|PMID:26787654|PMID:28492532|PMID:32332016|PMID:33471991
8756323	Alg2	ALG2 alpha-1,3/1,6-mannosyltransferase	gene	DOID:0050571	congenital disorder of glycosylation type II		ISO	RGD:1320554	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CDG Ii | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii	PMID:25741868|PMID:28492532|PMID:30061496
8756323	Alg2	ALG2 alpha-1,3/1,6-mannosyltransferase	gene	DOID:0080561	congenital disorder of glycosylation Ii		ISO	RGD:1320554	D	RGD:7240710	20180130	OMIM			
8756323	Alg2	ALG2 alpha-1,3/1,6-mannosyltransferase	gene	DOID:0080561	congenital disorder of glycosylation Ii		ISO	RGD:1320554	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CDG Ii | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii	PMID:25741868|PMID:28492532|PMID:30061496
8756323	Alg2	ALG2 alpha-1,3/1,6-mannosyltransferase	gene	DOID:0110669	congenital myasthenic syndrome 14		ISO	RGD:1320554	D	RGD:7240710	20180130	OMIM			
8756323	Alg2	ALG2 alpha-1,3/1,6-mannosyltransferase	gene	DOID:0110669	congenital myasthenic syndrome 14		ISO	RGD:1320554	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 14 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 14 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates	PMID:12684507|PMID:25741868|PMID:28492532|PMID:30061496|PMID:34980536
8756323	Alg2	ALG2 alpha-1,3/1,6-mannosyltransferase	gene	DOID:12849	autistic disorder		ISO	RGD:1320554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
8756323	Alg2	ALG2 alpha-1,3/1,6-mannosyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1320554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8756323	Alg2	ALG2 alpha-1,3/1,6-mannosyltransferase	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:1320554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8756323	Alg2	ALG2 alpha-1,3/1,6-mannosyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1320554	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8756323	Alg2	ALG2 alpha-1,3/1,6-mannosyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1320554	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8756323	Alg2	ALG2 alpha-1,3/1,6-mannosyltransferase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1320554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
8756323	Alg2	ALG2 alpha-1,3/1,6-mannosyltransferase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1320554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
8756323	Alg2	ALG2 alpha-1,3/1,6-mannosyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
8756323	Alg2	ALG2 alpha-1,3/1,6-mannosyltransferase	gene	DOID:9007661	Dwarfism		ISO	RGD:1320554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
8756335	Cand2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8756335	Cand2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756335	Cand2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:0060224	atrial fibrillation		ISO	RGD:733192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
8756335	Cand2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:0060224	atrial fibrillation	no_association	ISO	RGD:733192	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs4642101 (human)	PMID:29459676|REF_RGD_ID:18899563
8756335	Cand2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:10534	stomach cancer		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8756335	Cand2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:1115	sarcoma		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8756335	Cand2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:1324	lung cancer		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8756335	Cand2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:1909	melanoma		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8756335	Cand2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:3275	thymoma		ISO	RGD:733192	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8756335	Cand2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:4362	cervical cancer		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8756335	Cand2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8756335	Cand2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8756335	Cand2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8756335	Cand2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8756335	Cand2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8756335	Cand2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:9001136	Familial Cerebral Cavernous Malformation		ISO	RGD:1551563	D	RGD:9068941	20200609	RGD			PMID:31426861|REF_RGD_ID:18899564
8756335	Cand2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8756335	Cand2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:9008652	Postoperative Atrial Fibrillation		ISO	RGD:733192	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs4642101 (human)	PMID:27203392|REF_RGD_ID:18899562
8756335	Cand2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8756358	Cks1b	CDC28 protein kinase regulatory subunit 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756358	Cks1b	CDC28 protein kinase regulatory subunit 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1344929	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8756358	Cks1b	CDC28 protein kinase regulatory subunit 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8756365	Ldhal6b	lactate dehydrogenase A like 6B	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1342929	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20562527
8756374	Smim43	small integral membrane protein 43	gene	DOID:1115	sarcoma		ISO	RGD:1604239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8756374	Smim43	small integral membrane protein 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8756374	Smim43	small integral membrane protein 43	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1604239	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:0061185	autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia		ISO	RGD:1316821	D	RGD:7240710	20240925	OMIM			
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:0061185	autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia		ISO	RGD:1316821	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AUTOINFLAMMATORY SYNDROME WITH CYTOPENIA, HYPERZINCEMIA, AND HYPERCALPROTECTINEMIA | ClinVar Annotator: match by term: HZHC SYNDROME | ClinVar Annotator: match by term: Hyperzincemia with functional zinc depletion | ClinVar Annotator: match by term: PSTPIP1-related condition	PMID:11971877|PMID:14595024|PMID:15580218|PMID:16527883|PMID:17576681|PMID:19673875|PMID:19934105|PMID:20506269|PMID:22161697|PMID:22513199|PMID:25741868|PMID:25845478|PMID:26025129|PMID:28492532|PMID:28628471|PMID:28960754|PMID:29150835|PMID:30198636|PMID:31119601|PMID:31789267|PMID:32054657|PMID:32441320|PMID:33597285|PMID:34399798|PMID:34620178|PMID:9536098
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:0080519	PAPA syndrome		ISO	RGD:1316821	D	RGD:7240710	20180130	OMIM			
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:0080519	PAPA syndrome		ISO	RGD:1316821	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PAPA SYNDROME | ClinVar Annotator: match by term: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	PMID:11971877|PMID:16527883|PMID:20506269|PMID:22161697|PMID:22513199|PMID:25741868|PMID:25845478|PMID:26025129|PMID:28492532|PMID:34273117
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:11156	anhidrosis		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anhidrosis	PMID:28492532
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:13241	Behcet's disease		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Behcet disease	PMID:25741868|PMID:27577878|PMID:28492532|PMID:28814775
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:14286	neurogenic arthropathy		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuropathic arthropathy	PMID:28492532
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:2280	hidradenitis suppurativa		ISO	RGD:1316821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:2703	synovitis		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Synovitis	PMID:28492532
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:2841	asthma		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1316821	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:25741868|PMID:27577878|PMID:28492532|PMID:30290665|PMID:35482138|PMID:37013170
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:25741868|PMID:28492532|PMID:35482138
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868|PMID:28492532
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:3310	atopic dermatitis		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868|PMID:28492532
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:4481	allergic rhinitis		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	PMID:25741868
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316821	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:630	genetic disease		ISO	RGD:1316821	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:6543	acne		ISO	RGD:1316821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:848	arthritis		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthritis	PMID:28492532
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:8553	pyoderma gangrenosum		ISO	RGD:1316821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1316821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:9002944	Hyperzincemia and Hypercalprotectinemia		ISO	RGD:1316821	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperzincemia and hypercalprotectinemia	PMID:11971877|PMID:16527883|PMID:20506269|PMID:22161697|PMID:22513199|PMID:25741868|PMID:25845478|PMID:26025129|PMID:28492532|PMID:28628471|PMID:28960754|PMID:29150835|PMID:30198636|PMID:31119601|PMID:31789267|PMID:32054657|PMID:32441320|PMID:33597285|PMID:34399798|PMID:34620178
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:9006215	Exfoliative Dermatitis		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Erythroderma	PMID:28492532
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8756380	Pstpip1	proline-serine-threonine phosphatase interacting protein 1	gene	DOID:987	alopecia		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alopecia	PMID:28492532
8756415	Ankrd22	ankyrin repeat domain 22	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8756415	Ankrd22	ankyrin repeat domain 22	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8756415	Ankrd22	ankyrin repeat domain 22	gene	DOID:1115	sarcoma		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8756415	Ankrd22	ankyrin repeat domain 22	gene	DOID:1909	melanoma		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8756415	Ankrd22	ankyrin repeat domain 22	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8756415	Ankrd22	ankyrin repeat domain 22	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8756415	Ankrd22	ankyrin repeat domain 22	gene	DOID:4362	cervical cancer		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8756415	Ankrd22	ankyrin repeat domain 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8756415	Ankrd22	ankyrin repeat domain 22	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8756415	Ankrd22	ankyrin repeat domain 22	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8756415	Ankrd22	ankyrin repeat domain 22	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8756448	Kat7	lysine acetyltransferase 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8756448	Kat7	lysine acetyltransferase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756448	Kat7	lysine acetyltransferase 7	gene	DOID:10283	prostate cancer		ISO	RGD:737003	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8756448	Kat7	lysine acetyltransferase 7	gene	DOID:10283	prostate cancer		ISO	RGD:737003	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8756448	Kat7	lysine acetyltransferase 7	gene	DOID:10534	stomach cancer		ISO	RGD:737003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8756448	Kat7	lysine acetyltransferase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8756448	Kat7	lysine acetyltransferase 7	gene	DOID:1115	sarcoma		ISO	RGD:737003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8756448	Kat7	lysine acetyltransferase 7	gene	DOID:1612	breast cancer	severity	ISO	RGD:737003	D	RGD:9068941	20200609	RGD		protein:increased expression:breast (human)	PMID:21040551|REF_RGD_ID:9681004
8756448	Kat7	lysine acetyltransferase 7	gene	DOID:3275	thymoma		ISO	RGD:737003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8756448	Kat7	lysine acetyltransferase 7	gene	DOID:4674	androgen insensitivity syndrome		ISO	RGD:737003	D	RGD:9068941	20200609	RGD		protein:decreased expression:testes (human)	PMID:23707616|REF_RGD_ID:9681005
8756448	Kat7	lysine acetyltransferase 7	gene	DOID:5041	esophageal cancer		ISO	RGD:737003	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8756448	Kat7	lysine acetyltransferase 7	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:737003	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
8756448	Kat7	lysine acetyltransferase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8756448	Kat7	lysine acetyltransferase 7	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:737003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868
8756448	Kat7	lysine acetyltransferase 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8756448	Kat7	lysine acetyltransferase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8756488	Ssc5d	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:10534	stomach cancer		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8756488	Ssc5d	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:1115	sarcoma		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8756488	Ssc5d	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8756488	Ssc5d	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:4362	cervical cancer		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8756488	Ssc5d	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8756488	Ssc5d	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:5041	esophageal cancer		ISO	RGD:1604711	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8756488	Ssc5d	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8756488	Ssc5d	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8756488	Ssc5d	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8756518	Pof1b	POF1B actin binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8756518	Pof1b	POF1B actin binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756518	Pof1b	POF1B actin binding protein	gene	DOID:0080859	primary ovarian insufficiency 2B		ISO	RGD:1351618	D	RGD:7240710	20180130	OMIM			
8756518	Pof1b	POF1B actin binding protein	gene	DOID:0080859	primary ovarian insufficiency 2B		ISO	RGD:1351618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: POF1B-related condition | ClinVar Annotator: match by term: Premature ovarian failure 2B	PMID:15459172|PMID:25741868|PMID:28492532
8756518	Pof1b	POF1B actin binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1351618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8756518	Pof1b	POF1B actin binding protein	gene	DOID:12849	autistic disorder		ISO	RGD:14351525	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:21681106|PMID:30208311
8756518	Pof1b	POF1B actin binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1351618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8756518	Pof1b	POF1B actin binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8756518	Pof1b	POF1B actin binding protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8756518	Pof1b	POF1B actin binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8756518	Pof1b	POF1B actin binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8756539	Spmip4	sperm microtubule inner protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8756539	Spmip4	sperm microtubule inner protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8756539	Spmip4	sperm microtubule inner protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1349806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8756539	Spmip4	sperm microtubule inner protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1349806	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8756539	Spmip4	sperm microtubule inner protein 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1349806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8756539	Spmip4	sperm microtubule inner protein 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1349806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8756539	Spmip4	sperm microtubule inner protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8756539	Spmip4	sperm microtubule inner protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8756559	Clec3a	C-type lectin domain family 3 member A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8756566	Gpatch3	G-patch domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347677	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756566	Gpatch3	G-patch domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1347677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8756566	Gpatch3	G-patch domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1347677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8756566	Gpatch3	G-patch domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1347677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8756566	Gpatch3	G-patch domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8756566	Gpatch3	G-patch domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8756566	Gpatch3	G-patch domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:10283	prostate cancer		ISO	RGD:1352399	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:10283	prostate cancer		ISO	RGD:1352399	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer	
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:10534	stomach cancer		ISO	RGD:1352399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:1324	lung cancer		ISO	RGD:1352399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:13580	cholestasis		ISO	RGD:620266	D	RGD:9068941	20200609	RGD		protein:altered expression:kidney, liver	PMID:15030973|REF_RGD_ID:2301085
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:13580	cholestasis	treatment	ISO	RGD:620266	D	RGD:9068941	20200609	RGD			PMID:30223280|REF_RGD_ID:15045612
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:13619	extrahepatic cholestasis	treatment	ISO	RGD:620266	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:29360226|REF_RGD_ID:14995480
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:1561	cognitive disorder		ISO	RGD:1352399	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29382564
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:1909	melanoma		ISO	RGD:1352399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:289	endometriosis		ISO	RGD:1352399	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25446850
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:303	substance-related disorder		ISO	RGD:1352399	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:3275	thymoma		ISO	RGD:1352399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:4362	cervical cancer		ISO	RGD:1352399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:5041	esophageal cancer		ISO	RGD:1352399	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1352399	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23897011
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1352399	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17003774
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1352399	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17003774
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:9002661	Diabetes Complications		ISO	RGD:1352399	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29382564
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1352399	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23222202
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1352399	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
8756577	Abcc4	ATP binding cassette subfamily C member 4 (PEL blood group)	gene	DOID:9256	colorectal cancer		ISO	RGD:1352399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8756615	Slc66a2	solute carrier family 66 member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8756615	Slc66a2	solute carrier family 66 member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756615	Slc66a2	solute carrier family 66 member 2	gene	DOID:1115	sarcoma		ISO	RGD:1313123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8756615	Slc66a2	solute carrier family 66 member 2	gene	DOID:1909	melanoma		ISO	RGD:1313123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8756615	Slc66a2	solute carrier family 66 member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8756615	Slc66a2	solute carrier family 66 member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313123	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8756615	Slc66a2	solute carrier family 66 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8756615	Slc66a2	solute carrier family 66 member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8756615	Slc66a2	solute carrier family 66 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8756615	Slc66a2	solute carrier family 66 member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8756630	Gpam	glycerol-3-phosphate acyltransferase, mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756630	Gpam	glycerol-3-phosphate acyltransferase, mitochondrial	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:61847	D	RGD:9068941	20230720	RGD			PMID:26394137|REF_RGD_ID:329955565
8756630	Gpam	glycerol-3-phosphate acyltransferase, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1345985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8756630	Gpam	glycerol-3-phosphate acyltransferase, mitochondrial	gene	DOID:1184	nephrotic syndrome		ISO	RGD:61847	D	RGD:9068941	20200609	RGD			PMID:18614621|REF_RGD_ID:2313652
8756630	Gpam	glycerol-3-phosphate acyltransferase, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1345985	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
8756630	Gpam	glycerol-3-phosphate acyltransferase, mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8756630	Gpam	glycerol-3-phosphate acyltransferase, mitochondrial	gene	DOID:5041	esophageal cancer		ISO	RGD:1345985	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8756630	Gpam	glycerol-3-phosphate acyltransferase, mitochondrial	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1345985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8756630	Gpam	glycerol-3-phosphate acyltransferase, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8756630	Gpam	glycerol-3-phosphate acyltransferase, mitochondrial	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8756630	Gpam	glycerol-3-phosphate acyltransferase, mitochondrial	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1345985	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8756630	Gpam	glycerol-3-phosphate acyltransferase, mitochondrial	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1345985	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9452481
8756630	Gpam	glycerol-3-phosphate acyltransferase, mitochondrial	gene	DOID:9006599	Hypertriglyceridemia	treatment	ISO	RGD:61847	D	RGD:9068941	20230720	RGD			PMID:26394137|REF_RGD_ID:329955565
8756630	Gpam	glycerol-3-phosphate acyltransferase, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8756630	Gpam	glycerol-3-phosphate acyltransferase, mitochondrial	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:61847	D	RGD:9068941	20230720	RGD			PMID:26394137|REF_RGD_ID:329955565
8756630	Gpam	glycerol-3-phosphate acyltransferase, mitochondrial	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8756630	Gpam	glycerol-3-phosphate acyltransferase, mitochondrial	gene	DOID:9970	obesity		ISO	RGD:61847	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreatic islet	PMID:9032096|REF_RGD_ID:2313659
8756670	Ccnk	cyclin K	gene	DOID:1324	lung cancer		ISO	RGD:1317544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8756670	Ccnk	cyclin K	gene	DOID:1909	melanoma		ISO	RGD:1317544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8756670	Ccnk	cyclin K	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8756670	Ccnk	cyclin K	gene	DOID:9009238	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES		ISO	RGD:1317544	D	RGD:7240710	20190315	OMIM			
8756670	Ccnk	cyclin K	gene	DOID:9009238	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES		ISO	RGD:1317544	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CCNK-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies	PMID:25741868
8756703	St6gal2	ST6 beta-galactoside alpha-2,6-sialyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756703	St6gal2	ST6 beta-galactoside alpha-2,6-sialyltransferase 2	gene	DOID:0060058	lymphoma		ISO	RGD:1348221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8756703	St6gal2	ST6 beta-galactoside alpha-2,6-sialyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:1348221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8756703	St6gal2	ST6 beta-galactoside alpha-2,6-sialyltransferase 2	gene	DOID:1909	melanoma		ISO	RGD:1348221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8756703	St6gal2	ST6 beta-galactoside alpha-2,6-sialyltransferase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8756703	St6gal2	ST6 beta-galactoside alpha-2,6-sialyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8756703	St6gal2	ST6 beta-galactoside alpha-2,6-sialyltransferase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1348221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8756714	Cd226	CD226 molecule	gene	DOID:1324	lung cancer		ISO	RGD:1323011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8756714	Cd226	CD226 molecule	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8756714	Cd226	CD226 molecule	gene	DOID:289	endometriosis		ISO	RGD:1323011	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
8756714	Cd226	CD226 molecule	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8756714	Cd226	CD226 molecule	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323011	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8756714	Cd226	CD226 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8756714	Cd226	CD226 molecule	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1323011	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8756714	Cd226	CD226 molecule	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:1323011	D	RGD:9068941	20201118	RGD			PMID:21695691|REF_RGD_ID:40818295
8756714	Cd226	CD226 molecule	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1323011	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16015041
8756714	Cd226	CD226 molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8756714	Cd226	CD226 molecule	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1323011	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26808113
8756714	Cd226	CD226 molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8756733	Il1rapl2	interleukin 1 receptor accessory protein like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8756733	Il1rapl2	interleukin 1 receptor accessory protein like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8756733	Il1rapl2	interleukin 1 receptor accessory protein like 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1349606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8756733	Il1rapl2	interleukin 1 receptor accessory protein like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8756733	Il1rapl2	interleukin 1 receptor accessory protein like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8756748	Ccdc38	coiled-coil domain containing 38	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756748	Ccdc38	coiled-coil domain containing 38	gene	DOID:10534	stomach cancer		ISO	RGD:1603366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8756748	Ccdc38	coiled-coil domain containing 38	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8756748	Ccdc38	coiled-coil domain containing 38	gene	DOID:4362	cervical cancer		ISO	RGD:1603366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8756748	Ccdc38	coiled-coil domain containing 38	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8756748	Ccdc38	coiled-coil domain containing 38	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8756748	Ccdc38	coiled-coil domain containing 38	gene	DOID:9256	colorectal cancer		ISO	RGD:1603366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8756768	Dctn6	dynactin subunit 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756768	Dctn6	dynactin subunit 6	gene	DOID:10534	stomach cancer		ISO	RGD:1316808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8756768	Dctn6	dynactin subunit 6	gene	DOID:1324	lung cancer		ISO	RGD:1316808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8756768	Dctn6	dynactin subunit 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8756768	Dctn6	dynactin subunit 6	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8756768	Dctn6	dynactin subunit 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8756782	Klhl11	kelch like family member 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:0050562	West syndrome		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:0050840	cervical dystonia		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:28492532
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:734342	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:22294689|PMID:23020937|PMID:26153216|PMID:27003583
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:0060500	drug allergy		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drug allergy	PMID:28492532
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:0060825	Christianson syndrome		ISO	RGD:734342	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Angelman-like syndrome	PMID:25741868
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:0070043	autosomal dominant intellectual developmental disorder 13		ISO	RGD:734342	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13	PMID:25741868
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:0070073	autosomal dominant intellectual developmental disorder 43		ISO	RGD:734342	D	RGD:7240710	20190315	OMIM			
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:0070073	autosomal dominant intellectual developmental disorder 43		ISO	RGD:734342	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HIVEP2-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 43 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 43	PMID:23020937|PMID:25741868|PMID:26153216|PMID:27003583|PMID:28492532|PMID:29758562|PMID:31487502|PMID:34704275|PMID:36588750
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:0112131	severe congenital neutropenia 2		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant	PMID:25741868|PMID:26153216|PMID:27003583|PMID:31207095|PMID:34704275
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:10376	amblyopia		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:10534	stomach cancer		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pigmentary retinopathy	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:1059	intellectual disability		ISO	RGD:734342	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26153216|PMID:27003583|PMID:28492532|PMID:36588750|PMID:39825153
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:1059	intellectual disability		ISO	RGD:734342	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:12527760|PMID:1567844|PMID:25741868|PMID:26153216|PMID:27003583|PMID:28492532|PMID:33958710|PMID:34704275|PMID:36588750
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:1059	intellectual disability		ISO	RGD:734342	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:12527760|PMID:1567844|PMID:25741868|PMID:28492532
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:10754	otitis media		ISO	RGD:734342	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25741868|PMID:26153216|PMID:27003583|PMID:28492532|PMID:33958710|PMID:34704275|PMID:36588750
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:10907	microcephaly		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:1115	sarcoma		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:11830	myopia		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:12527760|PMID:1567844
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:1205	allergic disease		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:28492532
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:12128	pica disease		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pica	PMID:28492532
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:12849	autistic disorder		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:12527760|PMID:1567844
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:1596	depressive disorder		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:12527760|PMID:1567844
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:178	vascular disease		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vascular disorder	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:1826	epilepsy		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:1909	melanoma		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:2030	anxiety disorder		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:12527760|PMID:1567844
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:255	hemangioma		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:2841	asthma		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:2841	asthma	treatment	ISO	RGD:734342	D	RGD:9068941	20251009	RGD		DNA:SNP: :s2328386	PMID:32119686|REF_RGD_ID:628374358
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:5419	schizophrenia		ISO	RGD:62280	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:630	genetic disease		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12527760|PMID:1567844|PMID:22294689|PMID:23020937|PMID:25741868|PMID:26153216|PMID:27003583|PMID:28492532
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:8488	polyhydramnios		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:28492532
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9000495	Tremor		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intention tremor	PMID:12527760|PMID:1567844
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9000831	Hypokinesia		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradykinesia	PMID:12527760|PMID:1567844
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhabdomyolysis	PMID:12527760|PMID:1567844
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:12527760|PMID:1567844|PMID:28492532
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9001581	Constipation		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:28492532
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple cafe-au-lait spots	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:28492532
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9002916	Hyperphagia		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	PMID:28492532
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9002969	Nevus		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9003126	Hallucinations		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual hallucination	PMID:12527760|PMID:1567844
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:734342	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:28492532
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9006637	Schizencephaly		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizencephaly	PMID:25741868
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:734342	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9007402	Gliosis		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gliosis	PMID:28492532
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9007661	Dwarfism		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:12527760|PMID:1567844|PMID:28492532
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9008385	Vomiting		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9009021	Plagiocephaly		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:28492532
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:930	orbital disease		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:936	brain disease		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
8756789	Hivep2	HIVEP zinc finger 2	gene	DOID:9834	hyperopia		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
8756810	Spryd4	SPRY domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8756816	Pcbp1	poly(rC) binding protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1353218	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:CD4+ T cells (human)	PMID:32377375|REF_RGD_ID:32716422
8756816	Pcbp1	poly(rC) binding protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1561319	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:CD8+ T cells (human)	PMID:32377375|REF_RGD_ID:32716422
8756816	Pcbp1	poly(rC) binding protein 1	gene	DOID:630	genetic disease		ISO	RGD:1353218	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:41415500
8756816	Pcbp1	poly(rC) binding protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1353218	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:41415500
8756816	Pcbp1	poly(rC) binding protein 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1353218	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:35639300
8756821	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8756821	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756821	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8756821	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1347917	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8756821	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1347917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
8756821	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1347917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8756821	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8756821	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:3275	thymoma		ISO	RGD:1347917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8756821	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1347917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8756821	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8756821	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8756821	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8756856	CUNH9orf78	chromosome unknown C9orf78 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8756856	CUNH9orf78	chromosome unknown C9orf78 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756856	CUNH9orf78	chromosome unknown C9orf78 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
8756856	CUNH9orf78	chromosome unknown C9orf78 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8756856	CUNH9orf78	chromosome unknown C9orf78 homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8756856	CUNH9orf78	chromosome unknown C9orf78 homolog	gene	DOID:3275	thymoma		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8756856	CUNH9orf78	chromosome unknown C9orf78 homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8756856	CUNH9orf78	chromosome unknown C9orf78 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8756856	CUNH9orf78	chromosome unknown C9orf78 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8756856	CUNH9orf78	chromosome unknown C9orf78 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8756856	CUNH9orf78	chromosome unknown C9orf78 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8756869	Pdcd4	programmed cell death 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8756869	Pdcd4	programmed cell death 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756869	Pdcd4	programmed cell death 4	gene	DOID:10534	stomach cancer		ISO	RGD:732159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8756869	Pdcd4	programmed cell death 4	gene	DOID:1324	lung cancer		ISO	RGD:732159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8756869	Pdcd4	programmed cell death 4	gene	DOID:1909	melanoma		ISO	RGD:732159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8756869	Pdcd4	programmed cell death 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8756869	Pdcd4	programmed cell death 4	gene	DOID:3070	high grade glioma		ISO	RGD:732159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8756869	Pdcd4	programmed cell death 4	gene	DOID:3275	thymoma		ISO	RGD:732159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8756869	Pdcd4	programmed cell death 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8756869	Pdcd4	programmed cell death 4	gene	DOID:4362	cervical cancer		ISO	RGD:732159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8756869	Pdcd4	programmed cell death 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8756869	Pdcd4	programmed cell death 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8756869	Pdcd4	programmed cell death 4	gene	DOID:5041	esophageal cancer		ISO	RGD:732159	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8756869	Pdcd4	programmed cell death 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8756869	Pdcd4	programmed cell death 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8756869	Pdcd4	programmed cell death 4	gene	DOID:8923	skin melanoma	disease_progression	ISO	RGD:732159	D	RGD:9068941	20220630	RGD		mRNA:decreased expression:skin (human)	PMID:26150475|REF_RGD_ID:11342032
8756869	Pdcd4	programmed cell death 4	gene	DOID:9001820	Pulmonary Arterial Hypertension	treatment	ISO	RGD:620816	D	RGD:9068941	20230225	RGD			PMID:30240970|REF_RGD_ID:156430315
8756869	Pdcd4	programmed cell death 4	gene	DOID:9002056	Arterial Injury		ISO	RGD:620816	D	RGD:9068941	20200609	RGD			PMID:20357187|REF_RGD_ID:9589087
8756869	Pdcd4	programmed cell death 4	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:732159	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23272133
8756869	Pdcd4	programmed cell death 4	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:732159	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27323401
8756869	Pdcd4	programmed cell death 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8756869	Pdcd4	programmed cell death 4	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:732159	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27323401|PMID:27344173|PMID:28881718
8756869	Pdcd4	programmed cell death 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8756869	Pdcd4	programmed cell death 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8756901	Tpbg	trophoblast glycoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8756901	Tpbg	trophoblast glycoprotein	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1345613	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8756901	Tpbg	trophoblast glycoprotein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8756941	Pcdha1	protocadherin alpha 1	gene	DOID:10283	prostate cancer		ISO	RGD:1352837	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8756955	P2rx2	purinergic receptor P2X 2	gene	DOID:0050564	autosomal dominant nonsyndromic deafness		ISO	RGD:733979	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss	PMID:30311386
8756955	P2rx2	purinergic receptor P2X 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756955	P2rx2	purinergic receptor P2X 2	gene	DOID:0110567	autosomal dominant nonsyndromic deafness 41		ISO	RGD:733979	D	RGD:7240710	20180130	OMIM			
8756955	P2rx2	purinergic receptor P2X 2	gene	DOID:0110567	autosomal dominant nonsyndromic deafness 41		ISO	RGD:733979	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 41 | ClinVar Annotator: match by term: Deafness, autosomal dominant 41 | ClinVar Annotator: match by term: P2RX2-related condition	PMID:23345450|PMID:24033266|PMID:24211385|PMID:25741868|PMID:25788561|PMID:28492532|PMID:31636190
8756955	P2rx2	purinergic receptor P2X 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:733979	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:28492532|PMID:30311386|PMID:34652575
8756955	P2rx2	purinergic receptor P2X 2	gene	DOID:1826	epilepsy		ISO	RGD:733979	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12941474
8756955	P2rx2	purinergic receptor P2X 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8756955	P2rx2	purinergic receptor P2X 2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:733979	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19383439
8756955	P2rx2	purinergic receptor P2X 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:733979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8756955	P2rx2	purinergic receptor P2X 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8756955	P2rx2	purinergic receptor P2X 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8756996	Slc17a8	solute carrier family 17 member 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8756996	Slc17a8	solute carrier family 17 member 8	gene	DOID:0080855	Parkinsonism		ISO	RGD:628870	D	RGD:9068941	20200609	RGD		protein:increased expression:substantia nigra pars reticulata, neuron, perikaryon	PMID:17435391|REF_RGD_ID:9999153
8756996	Slc17a8	solute carrier family 17 member 8	gene	DOID:0110535	autosomal recessive nonsyndromic deafness 9		ISO	RGD:733222	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder	PMID:27068579|PMID:28492532
8756996	Slc17a8	solute carrier family 17 member 8	gene	DOID:0110555	autosomal dominant nonsyndromic deafness 25		ISO	RGD:733222	D	RGD:7240710	20180130	OMIM			
8756996	Slc17a8	solute carrier family 17 member 8	gene	DOID:0110555	autosomal dominant nonsyndromic deafness 25		ISO	RGD:733222	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 25 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 25 | ClinVar Annotator: match by term: SLC17A8-related condition	PMID:23967202|PMID:25741868|PMID:28492532|PMID:33229591
8756996	Slc17a8	solute carrier family 17 member 8	gene	DOID:11446	sciatic neuropathy		ISO	RGD:628870	D	RGD:9068941	20200609	RGD		protein:decreased expression:nucleus accumbens	PMID:23835161|REF_RGD_ID:9999206
8756996	Slc17a8	solute carrier family 17 member 8	gene	DOID:224	transient cerebral ischemia		ISO	RGD:628870	D	RGD:9068941	20200609	RGD			PMID:23458738|REF_RGD_ID:9999193
8756996	Slc17a8	solute carrier family 17 member 8	gene	DOID:5463	cochlear disease		ISO	RGD:628870	D	RGD:9068941	20200609	RGD			PMID:21215254|REF_RGD_ID:9999192
8756996	Slc17a8	solute carrier family 17 member 8	gene	DOID:630	genetic disease		ISO	RGD:733222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8756996	Slc17a8	solute carrier family 17 member 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8756996	Slc17a8	solute carrier family 17 member 8	gene	DOID:9002211	Hyperalgesia		ISO	RGD:628870	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal horn of spinal cord, neuron	PMID:22160634|REF_RGD_ID:9999169
8756996	Slc17a8	solute carrier family 17 member 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8756996	Slc17a8	solute carrier family 17 member 8	gene	DOID:9784	trichinosis		ISO	RGD:628870	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal horn of spinal cord, dorsal root ganglion	PMID:22160634|REF_RGD_ID:9999169
8757015	Tmx2	thioredoxin related transmembrane protein 2	gene	DOID:9006716	Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity		ISO	RGD:1603042	D	RGD:7240710	20200226	OMIM			
8757033	Dcun1d1	defective in cullin neddylation 1 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8757033	Dcun1d1	defective in cullin neddylation 1 domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8757033	Dcun1d1	defective in cullin neddylation 1 domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1602219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8757033	Dcun1d1	defective in cullin neddylation 1 domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1602219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8757033	Dcun1d1	defective in cullin neddylation 1 domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8757033	Dcun1d1	defective in cullin neddylation 1 domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8757033	Dcun1d1	defective in cullin neddylation 1 domain containing 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1602219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8757033	Dcun1d1	defective in cullin neddylation 1 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757033	Dcun1d1	defective in cullin neddylation 1 domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8757033	Dcun1d1	defective in cullin neddylation 1 domain containing 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1602219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8757047	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8757047	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8757047	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:0060058	lymphoma		ISO	RGD:1345815	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8757047	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8757047	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8757047	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8757047	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:1909	melanoma		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8757047	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8757047	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8757047	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8757047	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345815	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:34845814
8757047	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345815	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8757047	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757047	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8757047	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8757047	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8757047	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8757047	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8757068	Otub1	OTU deubiquitinase, ubiquitin aldehyde binding 1	gene	DOID:0080162	lupus nephritis		ISO	RGD:1322723	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:22279542|REF_RGD_ID:7175260
8757068	Otub1	OTU deubiquitinase, ubiquitin aldehyde binding 1	gene	DOID:1324	lung cancer		ISO	RGD:1322723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8757068	Otub1	OTU deubiquitinase, ubiquitin aldehyde binding 1	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1322723	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:22279542|REF_RGD_ID:7175260
8757068	Otub1	OTU deubiquitinase, ubiquitin aldehyde binding 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8757068	Otub1	OTU deubiquitinase, ubiquitin aldehyde binding 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1322723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8757068	Otub1	OTU deubiquitinase, ubiquitin aldehyde binding 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757068	Otub1	OTU deubiquitinase, ubiquitin aldehyde binding 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1322723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8757079	Ccnjl	cyclin J like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8757079	Ccnjl	cyclin J like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8757079	Ccnjl	cyclin J like	gene	DOID:1115	sarcoma		ISO	RGD:1606241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8757079	Ccnjl	cyclin J like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757079	Ccnjl	cyclin J like	gene	DOID:630	genetic disease		ISO	RGD:1606241	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8757079	Ccnjl	cyclin J like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8757092	Znf207	zinc finger protein 207	gene	DOID:10534	stomach cancer		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8757092	Znf207	zinc finger protein 207	gene	DOID:1909	melanoma		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8757092	Znf207	zinc finger protein 207	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8757092	Znf207	zinc finger protein 207	gene	DOID:3070	high grade glioma		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8757092	Znf207	zinc finger protein 207	gene	DOID:4362	cervical cancer		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8757092	Znf207	zinc finger protein 207	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757092	Znf207	zinc finger protein 207	gene	DOID:6039	uveal melanoma		ISO	RGD:1317710	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8757092	Znf207	zinc finger protein 207	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8757092	Znf207	zinc finger protein 207	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8757125	Gabra5	gamma-aminobutyric acid type A receptor subunit alpha5	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736048	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8757125	Gabra5	gamma-aminobutyric acid type A receptor subunit alpha5	gene	DOID:0112215	developmental and epileptic encephalopathy 79		ISO	RGD:736048	D	RGD:7240710	20190911	OMIM			
8757125	Gabra5	gamma-aminobutyric acid type A receptor subunit alpha5	gene	DOID:0112215	developmental and epileptic encephalopathy 79		ISO	RGD:736048	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 79 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79 | ClinVar Annotator: match by term: GABRA5-related condition	PMID:25741868|PMID:29961870|PMID:31056671
8757125	Gabra5	gamma-aminobutyric acid type A receptor subunit alpha5	gene	DOID:10534	stomach cancer		ISO	RGD:736048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8757125	Gabra5	gamma-aminobutyric acid type A receptor subunit alpha5	gene	DOID:11832	visual epilepsy		ISO	RGD:736048	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:8985701
8757125	Gabra5	gamma-aminobutyric acid type A receptor subunit alpha5	gene	DOID:12849	autistic disorder		ISO	RGD:14703056	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome	PMID:25741868
8757125	Gabra5	gamma-aminobutyric acid type A receptor subunit alpha5	gene	DOID:12849	autistic disorder		ISO	RGD:736048	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:17353214
8757125	Gabra5	gamma-aminobutyric acid type A receptor subunit alpha5	gene	DOID:12849	autistic disorder		ISO	RGD:736048	D	RGD:9068941	20250724	RGD			PMID:20066485|REF_RGD_ID:6480253
8757125	Gabra5	gamma-aminobutyric acid type A receptor subunit alpha5	gene	DOID:1596	depressive disorder		ISO	RGD:736048	D	RGD:9068941	20200609	RGD		DNA:repeat:: (human)	PMID:9267853|REF_RGD_ID:1358629
8757125	Gabra5	gamma-aminobutyric acid type A receptor subunit alpha5	gene	DOID:1826	epilepsy		ISO	RGD:736048	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868
8757125	Gabra5	gamma-aminobutyric acid type A receptor subunit alpha5	gene	DOID:3312	bipolar disorder		ISO	RGD:736048	D	RGD:9068941	20200609	RGD			PMID:9514592|REF_RGD_ID:1358630
8757125	Gabra5	gamma-aminobutyric acid type A receptor subunit alpha5	gene	DOID:5419	schizophrenia		ISO	RGD:736048	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8757125	Gabra5	gamma-aminobutyric acid type A receptor subunit alpha5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8757125	Gabra5	gamma-aminobutyric acid type A receptor subunit alpha5	gene	DOID:630	genetic disease		ISO	RGD:736048	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28518168|PMID:32461654
8757125	Gabra5	gamma-aminobutyric acid type A receptor subunit alpha5	gene	DOID:9004864	Isodicentric Chromosome 15 Syndrome		ISO	RGD:736048	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23663378
8757125	Gabra5	gamma-aminobutyric acid type A receptor subunit alpha5	gene	DOID:9007072	Social Communication Disorder		ISO	RGD:736048	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27231709
8757125	Gabra5	gamma-aminobutyric acid type A receptor subunit alpha5	gene	DOID:9008023	Memory Disorders		ISO	RGD:736048	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20180861
8757153	Socs2	suppressor of cytokine signaling 2	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:1352815	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:12888825|REF_RGD_ID:2298909
8757153	Socs2	suppressor of cytokine signaling 2	gene	DOID:1380	endometrial cancer		ISO	RGD:1352815	D	RGD:9068941	20200609	RGD		DNA:hypermethylated	PMID:15159323|REF_RGD_ID:2298926
8757153	Socs2	suppressor of cytokine signaling 2	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1352815	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:12888825|REF_RGD_ID:2298909
8757153	Socs2	suppressor of cytokine signaling 2	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1352815	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
8757153	Socs2	suppressor of cytokine signaling 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1352815	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35305058
8757153	Socs2	suppressor of cytokine signaling 2	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1352815	D	RGD:9068941	20200609	RGD		DNA:hypermethylation	PMID:15361843|REF_RGD_ID:2298907
8757153	Socs2	suppressor of cytokine signaling 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352815	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8757153	Socs2	suppressor of cytokine signaling 2	gene	DOID:8986	narcolepsy		ISO	RGD:1352815	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17521418
8757153	Socs2	suppressor of cytokine signaling 2	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:69273	D	RGD:9068941	20200609	RGD			PMID:11723173|REF_RGD_ID:2298928
8757153	Socs2	suppressor of cytokine signaling 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1352815	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms	PMID:16707422|REF_RGD_ID:2298925
8757153	Socs2	suppressor of cytokine signaling 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1352815	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8757153	Socs2	suppressor of cytokine signaling 2	gene	DOID:9004484	Sepsis		ISO	RGD:69273	D	RGD:9068941	20200609	RGD		protein:increased expression:gastrocnemius	PMID:12644450|REF_RGD_ID:2298924
8757153	Socs2	suppressor of cytokine signaling 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8757153	Socs2	suppressor of cytokine signaling 2	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:1352815	D	RGD:9068941	20200609	RGD			PMID:17651480|REF_RGD_ID:2298902
8757184	Arsg	arylsulfatase G	gene	DOID:0050439	Usher syndrome		ISO	RGD:1602225	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Usher syndrome	
8757184	Arsg	arylsulfatase G	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1602225	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8757184	Arsg	arylsulfatase G	gene	DOID:12798	mucopolysaccharidosis		ISO	RGD:1331908	D	RGD:9068941	20220825	MouseDO		OMIM:252700	
8757184	Arsg	arylsulfatase G	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:12390961	D	RGD:9068941	20260709	OMIA		Lysosomal storage disease, ARSG related	PMID:12951908|PMID:15058771|PMID:15365721|PMID:16916197|PMID:20429032|PMID:20679209|PMID:22689975|PMID:23338040|PMID:24069350|PMID:25135642|PMID:25452429|PMID:27778018|PMID:28860089|PMID:32219101|PMID:37290756|PMID:37341581|PMID:38003185|PMID:41295716|PMID:42402371
8757184	Arsg	arylsulfatase G	gene	DOID:1909	melanoma		ISO	RGD:1602225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8757184	Arsg	arylsulfatase G	gene	DOID:4362	cervical cancer		ISO	RGD:1602225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8757184	Arsg	arylsulfatase G	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757184	Arsg	arylsulfatase G	gene	DOID:8501	fundus dystrophy		ISO	RGD:1602225	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
8757184	Arsg	arylsulfatase G	gene	DOID:9005209	Usher Syndrome Type 4		ISO	RGD:1602225	D	RGD:7240710	20190315	OMIM			
8757184	Arsg	arylsulfatase G	gene	DOID:9005209	Usher Syndrome Type 4		ISO	RGD:1602225	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARSG-related condition | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IV | ClinVar Annotator: match by term: Usher syndrome, type 4	PMID:25741868|PMID:28492532|PMID:32455177|PMID:33300174|PMID:34223797|PMID:35226187
8757184	Arsg	arylsulfatase G	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8757184	Arsg	arylsulfatase G	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8757184	Arsg	arylsulfatase G	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8757250	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:10534	stomach cancer		ISO	RGD:1321222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8757250	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8757250	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:1115	sarcoma		ISO	RGD:1321222	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8757250	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:1324	lung cancer		ISO	RGD:1321222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8757250	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:1909	melanoma		ISO	RGD:1321222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8757250	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8757250	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:303	substance-related disorder		ISO	RGD:1321222	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8757250	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:3070	high grade glioma		ISO	RGD:1321222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8757250	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:5041	esophageal cancer		ISO	RGD:1321222	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8757250	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321222	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma	PMID:28580594
8757250	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757250	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8757250	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8757250	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:9256	colorectal cancer		ISO	RGD:1321222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8757281	Srfbp1	serum response factor binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8757281	Srfbp1	serum response factor binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8757281	Srfbp1	serum response factor binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1603357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8757281	Srfbp1	serum response factor binding protein 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1603357	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:12417550|PMID:20929399|PMID:21612403|PMID:22722997|PMID:22911823|PMID:22948781|PMID:23758270|PMID:24033266|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939|PMID:34281165|PMID:8100215
8757281	Srfbp1	serum response factor binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8757281	Srfbp1	serum response factor binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8757281	Srfbp1	serum response factor binding protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8757281	Srfbp1	serum response factor binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757281	Srfbp1	serum response factor binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8757281	Srfbp1	serum response factor binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8757300	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8757300	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8757300	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:0110465	autosomal recessive nonsyndromic deafness 104		ISO	RGD:1315839	D	RGD:7240710	20180130	OMIM			
8757300	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:0110465	autosomal recessive nonsyndromic deafness 104		ISO	RGD:1315839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 104 | ClinVar Annotator: match by term: RIPOR2-related condition	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8757300	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:0110551	autosomal dominant nonsyndromic deafness 21		ISO	RGD:1315839	D	RGD:7240710	20220406	OMIM			
8757300	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:0110551	autosomal dominant nonsyndromic deafness 21		ISO	RGD:1315839	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 21 | ClinVar Annotator: match by term: Deafness, autosomal dominant 21	PMID:25741868|PMID:28492532|PMID:32631815
8757300	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1315839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
8757300	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:1909	melanoma		ISO	RGD:1315839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8757300	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8757300	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757300	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
8757300	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
8757332	Gorab	golgin, RAB6 interacting	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8757332	Gorab	golgin, RAB6 interacting	gene	DOID:0111266	geroderma osteodysplasticum		ISO	RGD:1603372	D	RGD:7240710	20180130	OMIM			
8757332	Gorab	golgin, RAB6 interacting	gene	DOID:0111266	geroderma osteodysplasticum		ISO	RGD:1603372	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GERODERMA OSTEODYSPLASTICUM | ClinVar Annotator: match by term: GORAB-related condition | ClinVar Annotator: match by term: Geroderma osteodysplastica | ClinVar Annotator: match by term: Geroderma osteodysplasticum | ClinVar Annotator: match by term: Walt Disney dwarfism | ClinVar Annotator: match by term: geroderma osteodysplastica	PMID:18997784|PMID:19681135|PMID:25741868|PMID:28492532|PMID:28807865|PMID:31829210
8757332	Gorab	golgin, RAB6 interacting	gene	DOID:11476	osteoporosis		ISO	RGD:1603372	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18997784
8757332	Gorab	golgin, RAB6 interacting	gene	DOID:3144	cutis laxa		ISO	RGD:1603372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:18997784|PMID:19681135|PMID:25741868|PMID:28492532
8757332	Gorab	golgin, RAB6 interacting	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8757332	Gorab	golgin, RAB6 interacting	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757332	Gorab	golgin, RAB6 interacting	gene	DOID:630	genetic disease		ISO	RGD:1603372	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18997784|PMID:19681135|PMID:25741868|PMID:28492532|PMID:28807865
8757332	Gorab	golgin, RAB6 interacting	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8757332	Gorab	golgin, RAB6 interacting	gene	DOID:9001946	Skin Abnormalities		ISO	RGD:1603372	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18997784
8757332	Gorab	golgin, RAB6 interacting	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8757332	Gorab	golgin, RAB6 interacting	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8757341	B3gnt7	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8757341	B3gnt7	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8757349	Isg20l2	interferon stimulated exonuclease gene 20 like 2	gene	DOID:3275	thymoma		ISO	RGD:1601738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8757349	Isg20l2	interferon stimulated exonuclease gene 20 like 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8757349	Isg20l2	interferon stimulated exonuclease gene 20 like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8757363	Acr	acrosin	gene	DOID:0070586	spermatogenic failure 87		ISO	RGD:736688	D	RGD:7240710	20230906	OMIM			
8757363	Acr	acrosin	gene	DOID:0070586	spermatogenic failure 87		ISO	RGD:736688	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 87	
8757363	Acr	acrosin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8757363	Acr	acrosin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757363	Acr	acrosin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:0050474	Netherton syndrome		ISO	RGD:1315213	D	RGD:7240710	20180130	OMIM			
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:0050474	Netherton syndrome		ISO	RGD:1315213	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: COMEL-NETHERTON SYNDROME | ClinVar Annotator: match by term: Ichthyosis linearis circumflexa | ClinVar Annotator: match by term: NETHERTON SYNDROME | ClinVar Annotator: match by term: Netherton disease | ClinVar Annotator: match by term: Netherton syndrome | ClinVar Annotator: match by term: SPINK5-related condition	PMID:10835624|PMID:11511292|PMID:11841556|PMID:12923596|PMID:15304086|PMID:15656819|PMID:16199547|PMID:16601670|PMID:16628198|PMID:17415575|PMID:17576681|PMID:17989726|PMID:19683336|PMID:19840201|PMID:20107740|PMID:21564178|PMID:21692842|PMID:22089833|PMID:23331056|PMID:24015757|PMID:24033266|PMID:24042343|PMID:25640679|PMID:25710899|PMID:25741868|PMID:25819062|PMID:26031502|PMID:26193622|PMID:26229701|PMID:26865388|PMID:27905021|PMID:27988933|PMID:28492532|PMID:28832562|PMID:28943498|PMID:29444371|PMID:29926005|PMID:30293248|PMID:31288584|PMID:32573669|PMID:32709676|PMID:32767583|PMID:33452875|PMID:34671977|PMID:36569942|PMID:9536098
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:1315213	D	RGD:9068941	20250920	RGD		DNA:SNP:exon:rs2303064	PMID:24831437|REF_RGD_ID:628359023
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:1315213	D	RGD:9068941	20250920	RGD		DNA:SNPs, haplotypes: :multiple	PMID:25233048|REF_RGD_ID:628359033
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:0080822	aspirin-induced respiratory disease		ISO	RGD:1315213	D	RGD:9068941	20250920	RGD		DNA:SNPs: :1103A>G, 1258G>A	PMID:22570283|REF_RGD_ID:628359036
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:10754	otitis media		ISO	RGD:1315213	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Susceptibility to nonsyndromic otitis media	PMID:11511292|PMID:25741868|PMID:26865388|PMID:28492532|PMID:32709676|PMID:37533579|PMID:38791074
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:1115	sarcoma		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:1555	urticaria		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urticaria	PMID:11511292|PMID:11841556|PMID:22089833|PMID:25741868|PMID:28492532|PMID:28832562
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:1558	angioedema		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angioedema	PMID:11511292|PMID:11841556|PMID:22089833|PMID:25741868|PMID:28492532|PMID:28832562
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:1697	ichthyosis		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis	PMID:25741868
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:1909	melanoma		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:2841	asthma		ISO	RGD:1315213	D	RGD:9068941	20250920	RGD		DNA:SNP:promoter:g.-206G>A	PMID:19534795|REF_RGD_ID:628359035
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:2841	asthma		ISO	RGD:1315213	D	RGD:9068941	20250920	RGD		DNA:missense mutation:exon:p.E420K (1258G>A)	PMID:15005725|REF_RGD_ID:628359021
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:2841	asthma	no_association	ISO	RGD:1315213	D	RGD:9068941	20250920	RGD		DNA:SNP, missense mutations:promoter, :g.-785A>G, p.N368S, p.E420K	PMID:15753894|REF_RGD_ID:628359022
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:2841	asthma	no_association	ISO	RGD:1315213	D	RGD:9068941	20251106	RGD		DNA:SNP:cds:multiple	PMID:19534795|REF_RGD_ID:628359035
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:11511292|PMID:11841556|PMID:22089833|PMID:25741868|PMID:28492532|PMID:28832562
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:3044	food allergy		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Food allergy	PMID:25741868
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:3310	atopic dermatitis		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:11511292|PMID:11841556|PMID:22089833|PMID:25741868|PMID:28492532|PMID:28832562
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:3310	atopic dermatitis	no_association	ISO	RGD:1315213	D	RGD:9068941	20250920	RGD		DNA:missense mutations: :1103A>G (p.N368S),  1156G>A (p.D386N)	PMID:21585560|REF_RGD_ID:628359032
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:3310	atopic dermatitis	no_association	ISO	RGD:1315213	D	RGD:9068941	20250920	RGD		DNA:missense mutations: :p.D106N, p.D386N, p.E825D	PMID:14551605|REF_RGD_ID:628359020
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:4362	cervical cancer		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:11511292|PMID:11841556|PMID:16199547|PMID:28492532
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315213	D	RGD:9068941	20250920	RGD		mRNA:decreased expression:hypopharynx, larynx	PMID:26413216|REF_RGD_ID:628359041
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:630	genetic disease		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:9000954	Parakeratosis		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parakeratosis	PMID:25741868
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315213	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:9002850	Immediate Hypersensitivity		ISO	RGD:1315213	D	RGD:9068941	20250920	RGD		DNA:missense mutations: :p.N368S, p.E420K	PMID:11544479|REF_RGD_ID:628359031
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:9006202	Pruritus		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pruritus	PMID:11511292|PMID:11841556|PMID:22089833|PMID:25741868|PMID:28492532|PMID:28832562
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:9006215	Exfoliative Dermatitis		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Erythroderma	PMID:11511292|PMID:11841556|PMID:22089833|PMID:25741868|PMID:28492532|PMID:28832562|PMID:32573669
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:9007356	Eczema		ISO	RGD:1315213	D	RGD:9068941	20250920	RGD		DNA:polymorphisms: :multiple	PMID:20085599|REF_RGD_ID:5130731
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps		ISO	RGD:1315213	D	RGD:9068941	20250920	RGD		associated with aspirin-induced respiratory disease;mRNA:decreased expression:nasal cavity mucosa	PMID:22570283|REF_RGD_ID:628359036
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps		ISO	RGD:1315213	D	RGD:9068941	20250920	RGD		mRNA, protein:decreased expression:nasal cavity mucosa	PMID:18588753|REF_RGD_ID:628359029
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:9009382	eosinophilic chronic rhinosinusitis		ISO	RGD:1315213	D	RGD:9068941	20250920	RGD		mRNA, protein:decreased expression:nasal cavity epithelium	PMID:27779422|REF_RGD_ID:628359037
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:9009382	eosinophilic chronic rhinosinusitis		ISO	RGD:1550511	D	RGD:9068941	20250920	RGD		protein:decreased expression:nose, oronasal secretion	PMID:27779422|REF_RGD_ID:628359037
8757371	Spink5	serine peptidase inhibitor Kazal type 5	gene	DOID:9009384	centrilobular emphysema		ISO	RGD:1315213	D	RGD:9068941	20250920	RGD		protein:decreased expression:lung	PMID:32101459|REF_RGD_ID:628359028
8757403	Igfbpl1	insulin like growth factor binding protein like 1	gene	DOID:1115	sarcoma		ISO	RGD:1313812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8757403	Igfbpl1	insulin like growth factor binding protein like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8757403	Igfbpl1	insulin like growth factor binding protein like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757417	Dnali1	dynein axonemal light intermediate chain 1	gene	DOID:0070582	spermatogenic failure 83		ISO	RGD:1319504	D	RGD:7240710	20230505	OMIM			
8757417	Dnali1	dynein axonemal light intermediate chain 1	gene	DOID:0070582	spermatogenic failure 83		ISO	RGD:1319504	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 83 | ClinVar Annotator: match by term: Spermatogenic failure 83	PMID:25741868
8757417	Dnali1	dynein axonemal light intermediate chain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319504	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8757417	Dnali1	dynein axonemal light intermediate chain 1	gene	DOID:1909	melanoma		ISO	RGD:1319504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8757417	Dnali1	dynein axonemal light intermediate chain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757417	Dnali1	dynein axonemal light intermediate chain 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8757417	Dnali1	dynein axonemal light intermediate chain 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1319504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8757417	Dnali1	dynein axonemal light intermediate chain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8757439	Iqub	IQ motif and ubiquitin domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8757439	Iqub	IQ motif and ubiquitin domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:1606694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8757439	Iqub	IQ motif and ubiquitin domain containing	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8757439	Iqub	IQ motif and ubiquitin domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8757456	Frmd6	FERM domain containing 6	gene	DOID:1909	melanoma		ISO	RGD:1347019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8757456	Frmd6	FERM domain containing 6	gene	DOID:2841	asthma		ISO	RGD:1347019	D	RGD:9068941	20251120	RGD		DNA:SNP:promoter:rs3751464	PMID:22432035|REF_RGD_ID:629006601
8757456	Frmd6	FERM domain containing 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8757456	Frmd6	FERM domain containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1347019	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8757456	Frmd6	FERM domain containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757456	Frmd6	FERM domain containing 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8757456	Frmd6	FERM domain containing 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8757478	Miga2	mitoguardin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8757478	Miga2	mitoguardin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8757478	Miga2	mitoguardin 2	gene	DOID:1324	lung cancer		ISO	RGD:1322047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8757478	Miga2	mitoguardin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757478	Miga2	mitoguardin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8757478	Miga2	mitoguardin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8757478	Miga2	mitoguardin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8757478	Miga2	mitoguardin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8757524	Hps6	HPS6 biogenesis of lysosomal organelles complex 2 subunit 3	gene	DOID:0060539	Hermansky-Pudlak syndrome 1		ISO	RGD:1347712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	PMID:12548288|PMID:17041891|PMID:19843503|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31064749
8757524	Hps6	HPS6 biogenesis of lysosomal organelles complex 2 subunit 3	gene	DOID:0060544	Hermansky-Pudlak syndrome 6		ISO	RGD:1347712	D	RGD:7240710	20180130	OMIM			
8757524	Hps6	HPS6 biogenesis of lysosomal organelles complex 2 subunit 3	gene	DOID:0060544	Hermansky-Pudlak syndrome 6		ISO	RGD:1347712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HERMANSKY-PUDLAK SYNDROME 6 | ClinVar Annotator: match by term: HPS6-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6	PMID:12548288|PMID:12908754|PMID:15146457|PMID:17041891|PMID:19843503|PMID:20158590|PMID:20301609|PMID:24033266|PMID:25741868|PMID:25949529|PMID:27225848|PMID:27917594|PMID:28492532|PMID:29054114|PMID:30369044|PMID:30387913|PMID:31064749|PMID:31141302|PMID:31898847|PMID:32581362|PMID:32830442|PMID:33878481|PMID:35054407|PMID:35970915|PMID:37273692
8757524	Hps6	HPS6 biogenesis of lysosomal organelles complex 2 subunit 3	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1347712	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:28492532
8757524	Hps6	HPS6 biogenesis of lysosomal organelles complex 2 subunit 3	gene	DOID:2223	platelet storage pool deficiency		ISO	RGD:1347712	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Storage pool disease of platelets	PMID:19843503|PMID:25741868|PMID:27917594|PMID:28492532|PMID:30369044|PMID:31064749
8757524	Hps6	HPS6 biogenesis of lysosomal organelles complex 2 subunit 3	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1347712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hermansky-Pudlak syndrome	PMID:12548288|PMID:17041891|PMID:19843503|PMID:24033266|PMID:25741868|PMID:26575419|PMID:26823395|PMID:27593200|PMID:28492532|PMID:29345414|PMID:30369044|PMID:31064749|PMID:31898847|PMID:33878481|PMID:35054407
8757524	Hps6	HPS6 biogenesis of lysosomal organelles complex 2 subunit 3	gene	DOID:630	genetic disease		ISO	RGD:1347712	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8757524	Hps6	HPS6 biogenesis of lysosomal organelles complex 2 subunit 3	gene	DOID:9001386	Albinism		ISO	RGD:1347712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albinism	PMID:25741868|PMID:28492532
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:0090060	Wolcott-Rallison syndrome		ISO	RGD:1354090	D	RGD:7240710	20180130	OMIM			
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:0090060	Wolcott-Rallison syndrome		ISO	RGD:1354090	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EIF2AK3-related condition | ClinVar Annotator: match by term: WOLCOTT-RALLISON SYNDROME | ClinVar Annotator: match by term: Wolcott-Rallison dysplasia | ClinVar Annotator: match by term: Wolcott-Rallison syndrome	PMID:10932183|PMID:11997520|PMID:15220213|PMID:16199547|PMID:17576681|PMID:25741868|PMID:26380986|PMID:26860746|PMID:28492532|PMID:28652565|PMID:31638168|PMID:9536098
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:1115	sarcoma		ISO	RGD:1354090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:1324	lung cancer		ISO	RGD:1354090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:1824	status epilepticus		ISO	RGD:1354090	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16492139
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1354090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1354090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:5453	pulmonary venoocclusive disease		ISO	RGD:70884	D	RGD:9068941	20200903	RGD		protein:increased expression:lung	PMID:32209028|REF_RGD_ID:38549370
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:630	genetic disease		ISO	RGD:1354090	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:65	connective tissue disease		ISO	RGD:1354090	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:678	progressive supranuclear palsy		ISO	RGD:1354090	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21685912
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:9000238	Acute-On-Chronic Liver Failure		ISO	RGD:1354090	D	RGD:9068941	20200702	RGD		protein:hypophosphorylation:liver:	PMID:26234401|REF_RGD_ID:32716425
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:736260	D	RGD:9068941	20230525	RGD			PMID:34144219|REF_RGD_ID:329812011
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:70884	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:kidney	PMID:15936177|REF_RGD_ID:1581062
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1354090	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19041636
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:9008022	Temporomandibular Joint Osteoarthritis		ISO	RGD:70884	D	RGD:9068941	20200709	RGD		mRNA,protein:increased expression:chondrocyte	PMID:31007149|REF_RGD_ID:34888237
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1354090	D	RGD:9068941	20200702	RGD			PMID:26234401|REF_RGD_ID:32716425
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:9351	diabetes mellitus		ISO	RGD:1354090	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:25741868|PMID:28492532
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:736260	D	RGD:9068941	20231019	RGD			PMID:27813192|REF_RGD_ID:401842386
8757531	Eif2ak3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1354090	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:15483661|REF_RGD_ID:1601017
8757551	Mmgt1	membrane magnesium transporter 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8757551	Mmgt1	membrane magnesium transporter 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8757551	Mmgt1	membrane magnesium transporter 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757551	Mmgt1	membrane magnesium transporter 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343591	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8757551	Mmgt1	membrane magnesium transporter 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8757551	Mmgt1	membrane magnesium transporter 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8757567	R3hcc1	R3H domain and coiled-coil containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8757567	R3hcc1	R3H domain and coiled-coil containing 1	gene	DOID:0060058	lymphoma		ISO	RGD:1603166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8757567	R3hcc1	R3H domain and coiled-coil containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603166	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8757567	R3hcc1	R3H domain and coiled-coil containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757567	R3hcc1	R3H domain and coiled-coil containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8757580	Pdk3	pyruvate dehydrogenase kinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8757580	Pdk3	pyruvate dehydrogenase kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8757580	Pdk3	pyruvate dehydrogenase kinase 3	gene	DOID:0110207	Charcot-Marie-Tooth disease X-linked dominant 6		ISO	RGD:1343163	D	RGD:7240710	20180130	OMIM			
8757580	Pdk3	pyruvate dehydrogenase kinase 3	gene	DOID:0110207	Charcot-Marie-Tooth disease X-linked dominant 6		ISO	RGD:1343163	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 6	PMID:16199547|PMID:17576681|PMID:23297365|PMID:25741868|PMID:26801680|PMID:27388934|PMID:28106320|PMID:28492532|PMID:32504000|PMID:34387338|PMID:9536098
8757580	Pdk3	pyruvate dehydrogenase kinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1343163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8757580	Pdk3	pyruvate dehydrogenase kinase 3	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1343163	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25741868|PMID:28492532
8757580	Pdk3	pyruvate dehydrogenase kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1343163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8757580	Pdk3	pyruvate dehydrogenase kinase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8757580	Pdk3	pyruvate dehydrogenase kinase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1343163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8757580	Pdk3	pyruvate dehydrogenase kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757580	Pdk3	pyruvate dehydrogenase kinase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8757580	Pdk3	pyruvate dehydrogenase kinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8757580	Pdk3	pyruvate dehydrogenase kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8757580	Pdk3	pyruvate dehydrogenase kinase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8757612	Kcnab2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8757612	Kcnab2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:0060410	chromosome 1p36 deletion syndrome		ISO	RGD:62119	D	RGD:9068941	20250724	MouseDO		OMIM:607872	
8757612	Kcnab2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1354203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
8757612	Kcnab2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1354203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8757612	Kcnab2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:1826	epilepsy		ISO	RGD:1354203	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: KCNAB2-related epilepsy	
8757612	Kcnab2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1354203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8757612	Kcnab2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:3070	high grade glioma		ISO	RGD:1354203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8757612	Kcnab2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1354203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8757612	Kcnab2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1354203	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8757612	Kcnab2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8757612	Kcnab2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1354203	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8757612	Kcnab2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8757645	Cgref1	cell growth regulator with EF-hand domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8757645	Cgref1	cell growth regulator with EF-hand domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757645	Cgref1	cell growth regulator with EF-hand domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8757645	Cgref1	cell growth regulator with EF-hand domain 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1353373	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
8757645	Cgref1	cell growth regulator with EF-hand domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8757645	Cgref1	cell growth regulator with EF-hand domain 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8757659	Flcn	folliculin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:15852235|PMID:18234728|PMID:18505456|PMID:20618353|PMID:22977732|PMID:23386036|PMID:25401301|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27153395|PMID:27355777|PMID:27734835|PMID:28492532|PMID:28970150|PMID:36177613
8757659	Flcn	folliculin	gene	DOID:0050676	Birt-Hogg-Dube syndrome		ISO	RGD:1604509	D	RGD:7240710	20180130	OMIM			
8757659	Flcn	folliculin	gene	DOID:0050676	Birt-Hogg-Dube syndrome		ISO	RGD:1604509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BIRT-HOGG-DUBE SYNDROME 1 | ClinVar Annotator: match by term: Birt Hogg Dubé syndrome | ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome | ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome | ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome 1 | ClinVar Annotator: match by term: FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS	PMID:12204536|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18663353|PMID:19659657|PMID:19785621|PMID:19801896|PMID:19802896|PMID:19850877|PMID:20413710|PMID:20618353|PMID:21356586|PMID:21412933|PMID:21506000|PMID:21520333|PMID:21538689|PMID:22146830|PMID:22382802|PMID:22441547|PMID:22571569|PMID:22703879|PMID:22977732|PMID:23052100|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23414156|PMID:23784378|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:24910976|PMID:25302759|PMID:25401301|PMID:25519458|PMID:25537564|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25807935|PMID:26334087|PMID:26342594|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26689913|PMID:26763815|PMID:26928018|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27642565|PMID:27652079|PMID:27734835|PMID:27906882|PMID:28007907|PMID:28031834|PMID:28202063|PMID:28492532|PMID:28558743|PMID:28724667|PMID:28785590|PMID:28869776|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29641532|PMID:30360018|PMID:30476936|PMID:30533232|PMID:30548481|PMID:30586397|PMID:30632664|PMID:30923304|PMID:31266032|PMID:31615547|PMID:32091409|PMID:32398770|PMID:33057194|PMID:33927747|PMID:34067022|PMID:34604083|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35578266|PMID:36177613|PMID:36291753|PMID:36315513|PMID:36410626|PMID:36935552|PMID:37170274|PMID:37370942|PMID:37490463|PMID:8558743|PMID:9536098
8757659	Flcn	folliculin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8757659	Flcn	folliculin	gene	DOID:0060853	Potocki-Lupski syndrome		ISO	RGD:1604509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: 17p11.2 microduplication syndrome | ClinVar Annotator: match by term: Potocki-Lupski syndrome (dup(17)(p11.2p11.2))	PMID:18505456|PMID:22977732|PMID:25401301|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27153395|PMID:27355777|PMID:27734835|PMID:28492532|PMID:28970150|PMID:36177613
8757659	Flcn	folliculin	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:28492532
8757659	Flcn	folliculin	gene	DOID:0080218	primary spontaneous pneumothorax		ISO	RGD:1604509	D	RGD:7240710	20180523	OMIM			
8757659	Flcn	folliculin	gene	DOID:0080218	primary spontaneous pneumothorax		ISO	RGD:1604509	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial spontaneous pneumothorax | ClinVar Annotator: match by term: Pneumothorax, primary spontaneous	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:18579543|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22703879|PMID:23757202|PMID:23784378|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25126726|PMID:25326637|PMID:25519458|PMID:25525159|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26659639|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27356891|PMID:27734835|PMID:27905298|PMID:28007907|PMID:28492532|PMID:28558743|PMID:28785590|PMID:28839995|PMID:28873162|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30476936|PMID:30632664|PMID:30709382|PMID:31471370|PMID:31615547|PMID:31958439|PMID:32091409|PMID:32398770|PMID:32782288|PMID:33137092|PMID:33294559|PMID:33332384|PMID:34008892|PMID:34148334|PMID:34229741|PMID:34654685|PMID:34703430|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35495172|PMID:35578266|PMID:35639097|PMID:35648195|PMID:35946080|PMID:37520842|PMID:38552456|PMID:9536098
8757659	Flcn	folliculin	gene	DOID:0080218	primary spontaneous pneumothorax		ISO	RGD:1604509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial spontaneous pneumothorax | ClinVar Annotator: match by term: PNEUMOTHORAX, PRIMARY SPONTANEOUS | ClinVar Annotator: match by term: Pneumothorax, primary spontaneous	PMID:12204536|PMID:15852235|PMID:17028174|PMID:17496196|PMID:18234728|PMID:18505456|PMID:18579543|PMID:19802896|PMID:20413710|PMID:20618353|PMID:21506000|PMID:21538689|PMID:22068306|PMID:22441547|PMID:22703879|PMID:22977732|PMID:23386036|PMID:23784378|PMID:23874397|PMID:24055113|PMID:24393238|PMID:25401301|PMID:25519458|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26402642|PMID:26467025|PMID:26580448|PMID:27153395|PMID:27220747|PMID:27355777|PMID:27734835|PMID:28007907|PMID:28492532|PMID:28970150|PMID:30476936|PMID:32398770|PMID:33313181|PMID:33814490|PMID:36177613|PMID:37182269|PMID:37490463
8757659	Flcn	folliculin	gene	DOID:10534	stomach cancer		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
8757659	Flcn	folliculin	gene	DOID:1115	sarcoma		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8757659	Flcn	folliculin	gene	DOID:1324	lung cancer		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8757659	Flcn	folliculin	gene	DOID:1520	colon carcinoma		ISO	RGD:1604509	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma	PMID:12843323|PMID:15805188|PMID:15852235|PMID:16199547|PMID:18234728|PMID:19457309|PMID:19802896|PMID:20618353|PMID:21937013|PMID:22703879|PMID:23050938|PMID:24033266|PMID:24393238|PMID:24728327|PMID:25594584|PMID:25741868|PMID:28492532|PMID:28558743
8757659	Flcn	folliculin	gene	DOID:1520	colon carcinoma		ISO	RGD:1604509	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma	PMID:12843323|PMID:15805188|PMID:15852235|PMID:16199547|PMID:18234728|PMID:19116017|PMID:19457309|PMID:19562744|PMID:20618353|PMID:21937013|PMID:22703879|PMID:23050938|PMID:24033266|PMID:24393238|PMID:24728327|PMID:25594584|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28558743|PMID:35176117
8757659	Flcn	folliculin	gene	DOID:1520	colon carcinoma		ISO	RGD:1604509	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Colon carcinoma	PMID:25741868|PMID:28492532
8757659	Flcn	folliculin	gene	DOID:1612	breast cancer		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:25741868
8757659	Flcn	folliculin	gene	DOID:1673	pneumothorax		ISO	RGD:1604509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pneumothorax	PMID:15852235|PMID:24393238|PMID:25741868|PMID:26763815|PMID:28031834|PMID:28492532
8757659	Flcn	folliculin	gene	DOID:1826	epilepsy		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8757659	Flcn	folliculin	gene	DOID:1909	melanoma		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:15852235|PMID:18234728|PMID:25741868|PMID:27734835|PMID:28492532
8757659	Flcn	folliculin	gene	DOID:2394	ovarian cancer		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8757659	Flcn	folliculin	gene	DOID:3462	hamartoma		ISO	RGD:1604509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12204536|PMID:27072130
8757659	Flcn	folliculin	gene	DOID:4362	cervical cancer		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8757659	Flcn	folliculin	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1604509	D	RGD:7240710	20180130	OMIM			
8757659	Flcn	folliculin	gene	DOID:4450	renal cell carcinoma	treatment	ISO	RGD:735088	D	RGD:9068941	20200609	RGD			PMID:16369488|REF_RGD_ID:13605606
8757659	Flcn	folliculin	gene	DOID:4851	pilocytic astrocytoma		ISO	RGD:1604509	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pilocytic astrocytoma	PMID:15852235|PMID:16199547|PMID:25741868|PMID:28492532
8757659	Flcn	folliculin	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1604509	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
8757659	Flcn	folliculin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757659	Flcn	folliculin	gene	DOID:6245	renal oncocytoma		ISO	RGD:1604509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12204536
8757659	Flcn	folliculin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8757659	Flcn	folliculin	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:15852235|PMID:18234728|PMID:25741868|PMID:27734835|PMID:28492532
8757659	Flcn	folliculin	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:15852235|PMID:18234728|PMID:25741868|PMID:27734835|PMID:28492532
8757659	Flcn	folliculin	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1604509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Renal neoplasm	PMID:15852235|PMID:24393238|PMID:25741868|PMID:26763815|PMID:28031834|PMID:28492532
8757659	Flcn	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19785621|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25126726|PMID:25326637|PMID:25519458|PMID:25594584|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:28007907|PMID:28151982|PMID:28166811|PMID:28202063|PMID:28492532|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28891800|PMID:28944238|PMID:28970150|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30360018|PMID:30580288|PMID:33137092|PMID:33482948|PMID:34008892|PMID:34067022|PMID:9536098
8757659	Flcn	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26387484|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:28007907|PMID:28151982|PMID:28166811|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28873162|PMID:28891800|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31615547|PMID:31958439|PMID:32091409|PMID:32257251|PMID:33137092|PMID:33482948|PMID:34008892|PMID:34067022|PMID:34229741|PMID:35495172|PMID:35691222|PMID:9536098
8757659	Flcn	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26387484|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31266032|PMID:31615547|PMID:31958439|PMID:32091409|PMID:32257251|PMID:33137092|PMID:33482948|PMID:34008892|PMID:34067022|PMID:34229741|PMID:35477461|PMID:35495172|PMID:35691222|PMID:9536098
8757659	Flcn	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25302759|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25537564|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30190612|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31266032|PMID:31471370|PMID:31615547|PMID:31672913|PMID:31704029|PMID:31958439|PMID:32091409|PMID:32257251|PMID:32782288|PMID:33137092|PMID:33294559|PMID:33313181|PMID:33482948|PMID:33726816|PMID:34008892|PMID:34067022|PMID:34148334|PMID:34229741|PMID:34604083|PMID:34654685|PMID:34703430|PMID:35126451|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35495172|PMID:35578266|PMID:35637701|PMID:35639097|PMID:35691222|PMID:35946080|PMID:36410626|PMID:9536098
8757659	Flcn	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25302759|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25537564|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30190612|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31266032|PMID:31471370|PMID:31615547|PMID:31672913|PMID:31704029|PMID:31958439|PMID:32091409|PMID:32257251|PMID:32782288|PMID:33137092|PMID:33294559|PMID:33313181|PMID:33482948|PMID:33726816|PMID:34008892|PMID:34067022|PMID:34148334|PMID:34229741|PMID:34326862|PMID:34604083|PMID:34654685|PMID:34703430|PMID:35126451|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35495172|PMID:35578266|PMID:35637701|PMID:35639097|PMID:35691222|PMID:35946080|PMID:36095024|PMID:36410626|PMID:9536098
8757659	Flcn	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25302759|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25537564|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30190612|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31266032|PMID:31471370|PMID:31615547|PMID:31672913|PMID:31704029|PMID:31958439|PMID:32091409|PMID:32257251|PMID:32782288|PMID:33137092|PMID:33294559|PMID:33313181|PMID:33482948|PMID:33726816|PMID:34008892|PMID:34067022|PMID:34148334|PMID:34229741|PMID:34326862|PMID:34604083|PMID:34654685|PMID:34703430|PMID:35126451|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35495172|PMID:35578266|PMID:35637701|PMID:35639097|PMID:35691222|PMID:35946080|PMID:36095024|PMID:36315513|PMID:36410626|PMID:9536098
8757659	Flcn	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25302759|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25537564|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30190612|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31266032|PMID:31471370|PMID:31615547|PMID:31672913|PMID:31704029|PMID:31958439|PMID:32091409|PMID:32257251|PMID:32782288|PMID:33137092|PMID:33294559|PMID:33313181|PMID:33482948|PMID:33726816|PMID:34000505|PMID:34008892|PMID:34067022|PMID:34148334|PMID:34229741|PMID:34326862|PMID:34604083|PMID:34654685|PMID:34703430|PMID:35126451|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35495172|PMID:35578266|PMID:35637701|PMID:35639097|PMID:35691222|PMID:35946080|PMID:36095024|PMID:36315513|PMID:36410626|PMID:9536098
8757659	Flcn	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25302759|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25537564|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30190612|PMID:30360018|PMID:30476936|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31266032|PMID:31471370|PMID:31615547|PMID:31672913|PMID:31704029|PMID:31958439|PMID:32091409|PMID:32257251|PMID:32398770|PMID:32782288|PMID:33137092|PMID:33294559|PMID:33313181|PMID:33482948|PMID:33726816|PMID:34000505|PMID:34008892|PMID:34067022|PMID:34148334|PMID:34229741|PMID:34326862|PMID:34604083|PMID:34654685|PMID:34703430|PMID:35126451|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35495172|PMID:35578266|PMID:35637701|PMID:35639097|PMID:35691222|PMID:35946080|PMID:36095024|PMID:36315513|PMID:36410626|PMID:9536098
8757659	Flcn	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25302759|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25537564|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27363283|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:27997549|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30190612|PMID:30360018|PMID:30476936|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:30709382|PMID:31266032|PMID:31471370|PMID:31615547|PMID:31672913|PMID:31704029|PMID:31911633|PMID:31958439|PMID:32091409|PMID:32257251|PMID:32398770|PMID:32782288|PMID:33137092|PMID:33294559|PMID:33313181|PMID:33332384|PMID:33482948|PMID:33726816|PMID:34000505|PMID:34008892|PMID:34067022|PMID:34148334|PMID:34229741|PMID:34326862|PMID:34433815|PMID:34604083|PMID:34654685|PMID:34703430|PMID:35126451|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35495172|PMID:35578266|PMID:35637701|PMID:35639097|PMID:35648195|PMID:35691222|PMID:35946080|PMID:36095024|PMID:36291753|PMID:36315513|PMID:36410626|PMID:37273290|PMID:37490463|PMID:37520842|PMID:38136308|PMID:38552456|PMID:38887977|PMID:9536098
8757659	Flcn	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25302759|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25537564|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27363283|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:27997549|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30190612|PMID:30360018|PMID:30476936|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:30709382|PMID:31266032|PMID:31471370|PMID:31615547|PMID:31672913|PMID:31704029|PMID:31911633|PMID:31958439|PMID:32091409|PMID:32257251|PMID:32398770|PMID:32782288|PMID:33057194|PMID:33137092|PMID:33294559|PMID:33313181|PMID:33332384|PMID:33482948|PMID:33726816|PMID:34000505|PMID:34008892|PMID:34067022|PMID:34130653|PMID:34148334|PMID:34229741|PMID:34326862|PMID:34433815|PMID:34604083|PMID:34654685|PMID:34703430|PMID:35126451|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35495172|PMID:35534704|PMID:35578266|PMID:35637701|PMID:35639097|PMID:35648195|PMID:35691222|PMID:35946080|PMID:36095024|PMID:36177613|PMID:36291753|PMID:36315513|PMID:36410626|PMID:36935552|PMID:37273290|PMID:37490463|PMID:37520842|PMID:38136308|PMID:38552456|PMID:38887977|PMID:9536098
8757659	Flcn	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25302759|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25537564|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27363283|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:27997549|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30190612|PMID:30360018|PMID:30476936|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:30709382|PMID:31266032|PMID:31471370|PMID:31615547|PMID:31672913|PMID:31704029|PMID:31911633|PMID:31958439|PMID:32091409|PMID:32257251|PMID:32398770|PMID:32782288|PMID:33057194|PMID:33137092|PMID:33294559|PMID:33313181|PMID:33332384|PMID:33482948|PMID:33726816|PMID:34000505|PMID:34008892|PMID:34067022|PMID:34130653|PMID:34148334|PMID:34229741|PMID:34326862|PMID:34433815|PMID:34604083|PMID:34654685|PMID:34703430|PMID:35126451|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35495172|PMID:35534704|PMID:35578266|PMID:35637701|PMID:35639097|PMID:35648195|PMID:35691222|PMID:35946080|PMID:36095024|PMID:36177613|PMID:36291753|PMID:36315513|PMID:36410626|PMID:36935552|PMID:37182269|PMID:37273290|PMID:37490463|PMID:37520842|PMID:38136308|PMID:38552456|PMID:38887977|PMID:9536098
8757659	Flcn	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12204536|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17034545|PMID:17124507|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18505456|PMID:18579543|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20413710|PMID:20618353|PMID:21506000|PMID:21538689|PMID:22146830|PMID:22703879|PMID:22977732|PMID:23364595|PMID:23386036|PMID:23784378|PMID:23874397|PMID:24055113|PMID:24393238|PMID:25302759|PMID:25401301|PMID:25519458|PMID:25537564|PMID:25637381|PMID:25741868|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26763815|PMID:26928018|PMID:27153395|PMID:27220747|PMID:27258496|PMID:27355777|PMID:27642565|PMID:27652079|PMID:27734835|PMID:27780965|PMID:28007907|PMID:28202063|PMID:28492532|PMID:28558743|PMID:28869776|PMID:28944238|PMID:28970150|PMID:29357828|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30476936|PMID:30586397|PMID:31615547|PMID:31672913|PMID:31704029|PMID:31958439|PMID:32257251|PMID:32398770|PMID:32782288|PMID:33137092|PMID:33313181|PMID:34229741|PMID:35176117|PMID:35477461|PMID:35639097|PMID:35988656|PMID:36291753|PMID:37569793|PMID:9536098
8757659	Flcn	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12204536|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17034545|PMID:17124507|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18505456|PMID:18579543|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20413710|PMID:20618353|PMID:21506000|PMID:21538689|PMID:22146830|PMID:22703879|PMID:22977732|PMID:23386036|PMID:23784378|PMID:23874397|PMID:24055113|PMID:24393238|PMID:24728327|PMID:25302759|PMID:25401301|PMID:25519458|PMID:25537564|PMID:25637381|PMID:25741868|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26763815|PMID:26928018|PMID:27153395|PMID:27229674|PMID:27258496|PMID:27355777|PMID:27642565|PMID:27652079|PMID:27734835|PMID:27780965|PMID:28007907|PMID:28202063|PMID:28492532|PMID:28558743|PMID:28869776|PMID:28944238|PMID:28970150|PMID:29357828|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30476936|PMID:30586397|PMID:31302073|PMID:31615547|PMID:31672913|PMID:31704029|PMID:31958439|PMID:32257251|PMID:32398770|PMID:32782288|PMID:34067022|PMID:34145047|PMID:34229741|PMID:35176117|PMID:35477461|PMID:35639097|PMID:35988656|PMID:36177613|PMID:36291753|PMID:37370942|PMID:37569793|PMID:9536098
8757659	Flcn	folliculin	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1604509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
8757659	Flcn	folliculin	gene	DOID:9007583	Cysts		ISO	RGD:1604509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27072130
8757659	Flcn	folliculin	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1604509	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	
8757659	Flcn	folliculin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:18234728|PMID:21538689|PMID:22703879|PMID:23784378|PMID:23874397|PMID:24055113|PMID:25519458|PMID:25637381|PMID:25741868|PMID:28007907|PMID:28492532|PMID:30476936|PMID:32398770
8757659	Flcn	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:7240710	20200226	OMIM			
8757659	Flcn	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:17496196|PMID:18505456|PMID:18794106|PMID:19562744|PMID:20522427|PMID:21538689|PMID:22703879|PMID:23155228|PMID:23217326|PMID:23757202|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26659639|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:29357828|PMID:29548312|PMID:30360018|PMID:34008892
8757659	Flcn	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:17496196|PMID:18505456|PMID:18794106|PMID:19562744|PMID:20522427|PMID:21538689|PMID:22703879|PMID:23155228|PMID:23217326|PMID:23757202|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26659639|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:33137092|PMID:34008892|PMID:34067022
8757659	Flcn	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:17496196|PMID:18505456|PMID:18794106|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:22703879|PMID:23155228|PMID:23217326|PMID:23757202|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:33137092|PMID:34008892|PMID:34067022
8757659	Flcn	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:18794106|PMID:19116017|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:21538689|PMID:22703879|PMID:22977732|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23757202|PMID:23784378|PMID:24033266|PMID:24055113|PMID:24728327|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:34067022|PMID:35691222|PMID:9536098
8757659	Flcn	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:18794106|PMID:19116017|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:21538689|PMID:22703879|PMID:22977732|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23757202|PMID:23784378|PMID:24033266|PMID:24055113|PMID:24728327|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30548481|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:34067022|PMID:35691222|PMID:9536098
8757659	Flcn	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20230815	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:19116017|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:21538689|PMID:22977732|PMID:23264078|PMID:23757202|PMID:23784378|PMID:24728327|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30548481|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:9536098
8757659	Flcn	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:15852235|PMID:16199547|PMID:17496196|PMID:18234728|PMID:18505456|PMID:19116017|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:23757202|PMID:23784378|PMID:25326637|PMID:25519458|PMID:25610687|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28839995|PMID:29357828|PMID:29548312|PMID:30360018|PMID:31471370|PMID:31958439|PMID:32091409|PMID:33137092|PMID:33294559|PMID:34008892|PMID:34229741|PMID:34654685|PMID:35221599|PMID:35441217|PMID:35578266|PMID:35639097|PMID:35946080
8757659	Flcn	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:15852235|PMID:16199547|PMID:17496196|PMID:18234728|PMID:18505456|PMID:19116017|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:22441547|PMID:23757202|PMID:23784378|PMID:24346394|PMID:25326637|PMID:25519458|PMID:25610687|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28785590|PMID:28839995|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30632664|PMID:31471370|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:33294559|PMID:34008892|PMID:34229741|PMID:34654685|PMID:35221599|PMID:35441217|PMID:35578266|PMID:35639097|PMID:35946080
8757659	Flcn	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:15852235|PMID:16199547|PMID:17496196|PMID:18234728|PMID:18505456|PMID:19116017|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:22441547|PMID:23757202|PMID:23784378|PMID:24346394|PMID:25326637|PMID:25519458|PMID:25610687|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28785590|PMID:28839995|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30632664|PMID:31471370|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:33294559|PMID:34008892|PMID:34229741|PMID:34654685|PMID:35221599|PMID:35441217|PMID:35578266|PMID:35639097|PMID:35946080|PMID:37520842|PMID:38552456
8757659	Flcn	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:15852235|PMID:17496196|PMID:18234728|PMID:18505456|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:23757202|PMID:23784378|PMID:25326637|PMID:25519458|PMID:25610687|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26659639|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28839995|PMID:28873162|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30709382|PMID:31471370|PMID:31958439|PMID:32091409|PMID:33137092|PMID:33294559|PMID:33332384|PMID:34008892|PMID:34229741|PMID:34654685|PMID:35221599|PMID:35441217|PMID:35578266|PMID:35639097|PMID:35946080|PMID:37520842|PMID:38552456
8757659	Flcn	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:15852235|PMID:17496196|PMID:18234728|PMID:18505456|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:23757202|PMID:23784378|PMID:25326637|PMID:25519458|PMID:25610687|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26659639|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28839995|PMID:28873162|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30709382|PMID:31471370|PMID:31958439|PMID:32091409|PMID:33137092|PMID:33294559|PMID:33332384|PMID:34008892|PMID:34229741|PMID:34654685|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35578266|PMID:35639097|PMID:35946080|PMID:37520842|PMID:38552456
8757659	Flcn	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:15852235|PMID:17496196|PMID:18234728|PMID:18505456|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:23757202|PMID:23784378|PMID:25326637|PMID:25519458|PMID:25610687|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26659639|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28839995|PMID:28873162|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30586397|PMID:30709382|PMID:31471370|PMID:31958439|PMID:32091409|PMID:33137092|PMID:33294559|PMID:33332384|PMID:34008892|PMID:34229741|PMID:34654685|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35578266|PMID:35639097|PMID:35946080|PMID:37520842|PMID:38552456
8757659	Flcn	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12843323|PMID:15852235|PMID:18234728|PMID:18505456|PMID:20618353|PMID:22977732|PMID:23386036|PMID:25401301|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27153395|PMID:27355777|PMID:27734835|PMID:28492532|PMID:28970150
8757659	Flcn	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:15852235|PMID:18234728|PMID:18505456|PMID:20618353|PMID:22977732|PMID:23386036|PMID:25401301|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27153395|PMID:27355777|PMID:27734835|PMID:28492532|PMID:28970150
8757659	Flcn	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:15852235|PMID:18234728|PMID:18505456|PMID:20618353|PMID:22977732|PMID:23386036|PMID:25401301|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27153395|PMID:27355777|PMID:27734835|PMID:28492532|PMID:28970150|PMID:36177613
8757659	Flcn	folliculin	gene	DOID:9970	obesity		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:15852235|PMID:18234728|PMID:25741868|PMID:27734835|PMID:28492532
8757681	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:1115	sarcoma		ISO	RGD:1604339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8757681	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1604339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8757681	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8757681	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8757681	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757681	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8757681	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8757681	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8757681	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1604339	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8757681	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1604339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8757681	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8757681	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:68438	D	RGD:9068941	20231026	RGD		mRNA:decreased expression:ventral tegmental area	PMID:29678771|REF_RGD_ID:401851055
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:0050741	alcohol dependence		ISO	RGD:68438	D	RGD:9068941	20250619	RGD			PMID:24169802|REF_RGD_ID:616572753
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:0050741	alcohol dependence	ameliorates	ISO	RGD:68438	D	RGD:9068941	20250619	RGD		compared to Wistar Han NOP+/+ outbred control rats	PMID:27562376|REF_RGD_ID:616572759
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:0050742	nicotine dependence		ISO	RGD:68438	D	RGD:9068941	20250619	RGD		NOP/Oprl1 receptor antagonist LY2817412	PMID:34854073|REF_RGD_ID:616572755
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:0060001	withdrawal disorder		ISO	RGD:68657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11027224
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:68657	D	RGD:9068941	20231012	RGD		mRNA:increased expression:blood	PMID:30519864|REF_RGD_ID:401831039
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:68657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:1115	sarcoma		ISO	RGD:68657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:11206	opioid abuse		ISO	RGD:1550574	D	RGD:9068941	20231111	RGD		mRNA:increased expression:ventral striatum	PMID:30059705|REF_RGD_ID:401900306
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:68438	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain:	PMID:15862535|REF_RGD_ID:9835022
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:68438	D	RGD:9068941	20200609	RGD			PMID:11814626|REF_RGD_ID:9835016
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:2560	morphine dependence		ISO	RGD:68657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11027224
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:809	cocaine abuse		ISO	RGD:68438	D	RGD:9068941	20250710	RGD			PMID:23219985|REF_RGD_ID:617148291
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:68657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16995444
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:9000831	Hypokinesia		ISO	RGD:68657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20950413
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:9001109	Anorexia	treatment	ISO	RGD:68438	D	RGD:9068941	20200609	RGD			PMID:11981590|REF_RGD_ID:9835031
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:9001131	stress-related disorder	ameliorates	ISO	RGD:68438	D	RGD:9068941	20250626	RGD			PMID:11981590|REF_RGD_ID:9835031
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:68438	D	RGD:9068941	20200609	RGD		protein:decreased expression:hypothalamus:	PMID:11931711|REF_RGD_ID:9835019
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:68438	D	RGD:9068941	20200609	RGD		associated with Sciatic Neuropathy;mRNA:increased expression:spinal cord lumbar segment,dorsal root ganglion:	PMID:12106803|REF_RGD_ID:9835017
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:9002916	Hyperphagia		ISO	RGD:68438	D	RGD:9068941	20200609	RGD			PMID:9669488|PMID:9808678|REF_RGD_ID:9831410|REF_RGD_ID:9835033
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:9006302	Binge Drinking		ISO	RGD:68438	D	RGD:9068941	20250612	RGD		associated with Marchigian Sardinian alcohol-preferring rats; mRNA: altered expression:amygdala, bed nucleus of stria terminalis	PMID:33671048|REF_RGD_ID:616390065
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:9006302	Binge Drinking		ISO	RGD:68657	D	RGD:9068941	20200609	RGD			PMID:29197086|REF_RGD_ID:14348965
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:9975	cocaine dependence	ameliorates	ISO	RGD:68438	D	RGD:9068941	20250619	RGD		compared to Wistar Han NOP+/+ outbred control rats	PMID:27562376|REF_RGD_ID:616572759
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:9976	heroin dependence	ameliorates	ISO	RGD:68438	D	RGD:9068941	20250619	RGD		compared to Wistar Han NOP+/+ outbred control rats	PMID:27562376|REF_RGD_ID:616572759
8757723	Oprl1	opioid related nociceptin receptor 1	gene	DOID:9976	heroin dependence	treatment	ISO	RGD:68657	D	RGD:9068941	20250220	RGD		DNA:SNP: :rs2229205	PMID:32481444|REF_RGD_ID:597805904
8757737	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8757737	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:0060891	Parkinson's disease 19A		ISO	RGD:1320495	D	RGD:7240710	20180130	OMIM			
8757737	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:0060891	Parkinson's disease 19A		ISO	RGD:1320495	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Juvenile onset Parkinson disease 19A | ClinVar Annotator: match by term: PARK19 | ClinVar Annotator: match by term: PARKINSON DISEASE 19A, JUVENILE-ONSET | ClinVar Annotator: match by term: PARKINSON DISEASE 19B, EARLY-ONSET | ClinVar Annotator: match by term: Parkinson disease 19a, juvenile-onset	PMID:16199547|PMID:17576681|PMID:2256350|PMID:22563501|PMID:23211418|PMID:25640679|PMID:25741868|PMID:26528954|PMID:26703368|PMID:28191889|PMID:28492532|PMID:31737044|PMID:32214227|PMID:32472658|PMID:32613234|PMID:32662538|PMID:32707456|PMID:34948429|PMID:35861376|PMID:9536098
8757737	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:10283	prostate cancer		ISO	RGD:1320495	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:22563501|PMID:23211418|PMID:26528954|PMID:28492532
8757737	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:10534	stomach cancer		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8757737	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:1059	intellectual disability		ISO	RGD:1320495	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868
8757737	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:1324	lung cancer		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8757737	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:14330	Parkinson's disease		ISO	RGD:1320495	D	RGD:9068941	20200609	RGD			PMID:25639775|REF_RGD_ID:10450521
8757737	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:1909	melanoma		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8757737	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:5041	esophageal cancer		ISO	RGD:1320495	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
8757737	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757737	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:630	genetic disease		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26528954|PMID:28492532|PMID:31737044|PMID:34948429
8757737	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320495	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8757737	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8757737	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8757763	Plxnb1	plexin B1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8757763	Plxnb1	plexin B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8757763	Plxnb1	plexin B1	gene	DOID:10534	stomach cancer		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8757763	Plxnb1	plexin B1	gene	DOID:1115	sarcoma		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8757763	Plxnb1	plexin B1	gene	DOID:1324	lung cancer		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8757763	Plxnb1	plexin B1	gene	DOID:1909	melanoma		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8757763	Plxnb1	plexin B1	gene	DOID:2394	ovarian cancer		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8757763	Plxnb1	plexin B1	gene	DOID:4362	cervical cancer		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8757763	Plxnb1	plexin B1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8757763	Plxnb1	plexin B1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8757763	Plxnb1	plexin B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757763	Plxnb1	plexin B1	gene	DOID:6039	uveal melanoma		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8757763	Plxnb1	plexin B1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8757763	Plxnb1	plexin B1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321541	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
8757763	Plxnb1	plexin B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8757763	Plxnb1	plexin B1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8757763	Plxnb1	plexin B1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8757811	Oit3	oncoprotein induced transcript 3	gene	DOID:10283	prostate cancer		ISO	RGD:1345970	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
8757811	Oit3	oncoprotein induced transcript 3	gene	DOID:10534	stomach cancer		ISO	RGD:1345970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8757811	Oit3	oncoprotein induced transcript 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8757811	Oit3	oncoprotein induced transcript 3	gene	DOID:1909	melanoma		ISO	RGD:1345970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8757811	Oit3	oncoprotein induced transcript 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8757811	Oit3	oncoprotein induced transcript 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757811	Oit3	oncoprotein induced transcript 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8757811	Oit3	oncoprotein induced transcript 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8757838	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8757838	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:10534	stomach cancer		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8757838	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8757838	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:1115	sarcoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8757838	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:1324	lung cancer		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8757838	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8757838	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:3275	thymoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8757838	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8757838	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8757838	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757838	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8757838	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8757838	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8757838	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323690	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:25741868
8757838	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8757838	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:9256	colorectal cancer		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8757861	Tstd3	thiosulfate sulfurtransferase like domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:6769372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8757861	Tstd3	thiosulfate sulfurtransferase like domain containing 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1557685	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8757861	Tstd3	thiosulfate sulfurtransferase like domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:6769372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8757869	Nrxn1	neurexin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8757869	Nrxn1	neurexin 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders	PMID:19896112|PMID:21964664|PMID:23495017|PMID:23533028|PMID:25149956|PMID:25741868|PMID:27569545|PMID:28492532|PMID:30031152|PMID:32094338
8757869	Nrxn1	neurexin 1	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868|PMID:28492532
8757869	Nrxn1	neurexin 1	gene	DOID:0060488	Pitt-Hopkins syndrome		ISO	RGD:734185	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:19896112
8757869	Nrxn1	neurexin 1	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:734185	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868|PMID:28492532
8757869	Nrxn1	neurexin 1	gene	DOID:0080495	ovarian dysgenesis 3		ISO	RGD:734185	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Ovarian dysgenesis 3	PMID:28492532
8757869	Nrxn1	neurexin 1	gene	DOID:0111332	Pitt-Hopkins-like syndrome 2		ISO	RGD:734185	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NRXN-Related Disorder | ClinVar Annotator: match by term: NRXN1-related condition | ClinVar Annotator: match by term: PITT-HOPKINS-LIKE SYNDROME 2 | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2	PMID:16199547|PMID:17034946|PMID:17576681|PMID:18057082|PMID:18179900|PMID:18414213|PMID:18490107|PMID:19896112|PMID:20162629|PMID:20347009|PMID:20468056|PMID:20848651|PMID:21288692|PMID:21424692|PMID:21827697|PMID:21964664|PMID:22405623|PMID:22504536|PMID:22617343|PMID:23207424|PMID:23472757|PMID:23495017|PMID:23533028|PMID:23849776|PMID:23863341|PMID:24832020|PMID:25149956|PMID:25408897|PMID:25418537|PMID:25614873|PMID:25640679|PMID:25661985|PMID:25741868|PMID:26185613|PMID:26325558|PMID:26467025|PMID:26742492|PMID:27195815|PMID:27869829|PMID:28289584|PMID:28343708|PMID:28492532|PMID:29221905|PMID:29754261|PMID:29924869|PMID:30031152|PMID:30564305|PMID:30709877|PMID:31130284|PMID:31785789|PMID:32942984|PMID:33004838|PMID:33057194|PMID:33262327|PMID:33739554|PMID:33818307|PMID:34168285|PMID:34487988|PMID:35627176|PMID:36368308|PMID:36403551|PMID:37595579|PMID:38756210|PMID:38880274|PMID:9536098
8757869	Nrxn1	neurexin 1	gene	DOID:0111332	Pitt-Hopkins-like syndrome 2	susceptibility	ISO	RGD:734185	D	RGD:7240710	20260715	OMIM			
8757869	Nrxn1	neurexin 1	gene	DOID:1059	intellectual disability		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:21288692|PMID:23863341|PMID:25741868|PMID:26467025|PMID:28343708|PMID:28492532|PMID:33262327|PMID:34168285
8757869	Nrxn1	neurexin 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:18179900|PMID:18945720|PMID:21681106|PMID:23495017
8757869	Nrxn1	neurexin 1	gene	DOID:1115	sarcoma		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8757869	Nrxn1	neurexin 1	gene	DOID:12698	gynecomastia		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gynecomastia	
8757869	Nrxn1	neurexin 1	gene	DOID:12849	autistic disorder		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:21288692|PMID:23863341|PMID:25741868|PMID:26467025|PMID:28343708|PMID:28492532|PMID:33262327|PMID:34168285
8757869	Nrxn1	neurexin 1	gene	DOID:1324	lung cancer		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8757869	Nrxn1	neurexin 1	gene	DOID:1596	depressive disorder		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
8757869	Nrxn1	neurexin 1	gene	DOID:1826	epilepsy		ISO	RGD:734185	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:23849776|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29754261|PMID:33818307|PMID:35627176|PMID:38756210
8757869	Nrxn1	neurexin 1	gene	DOID:1909	melanoma		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8757869	Nrxn1	neurexin 1	gene	DOID:2030	anxiety disorder		ISO	RGD:734185	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:23849776|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29754261|PMID:33818307|PMID:35627176|PMID:38756210
8757869	Nrxn1	neurexin 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:628659	D	RGD:9068941	20200609	RGD		associated with Hypertension;mRNA:decreased expression:cerebral cortex	PMID:12437578|REF_RGD_ID:632385
8757869	Nrxn1	neurexin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8757869	Nrxn1	neurexin 1	gene	DOID:2340	craniosynostosis		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metopic synostosis	
8757869	Nrxn1	neurexin 1	gene	DOID:2841	asthma		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
8757869	Nrxn1	neurexin 1	gene	DOID:3275	thymoma		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8757869	Nrxn1	neurexin 1	gene	DOID:4188	echolalia		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Echolalia	
8757869	Nrxn1	neurexin 1	gene	DOID:4362	cervical cancer		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8757869	Nrxn1	neurexin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:734185	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8757869	Nrxn1	neurexin 1	gene	DOID:5419	schizophrenia		ISO	RGD:734185	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
8757869	Nrxn1	neurexin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8757869	Nrxn1	neurexin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757869	Nrxn1	neurexin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8757869	Nrxn1	neurexin 1	gene	DOID:630	genetic disease		ISO	RGD:734185	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17034946|PMID:17576681|PMID:18179900|PMID:18490107|PMID:19896112|PMID:20468056|PMID:21288692|PMID:21424692|PMID:21964664|PMID:22405623|PMID:22504536|PMID:22892527|PMID:23495017|PMID:23533028|PMID:23849776|PMID:23863341|PMID:24064682|PMID:24832020|PMID:25149956|PMID:25418537|PMID:25741868|PMID:26467025|PMID:28289584|PMID:28343708|PMID:28492532|PMID:29221905|PMID:29754261|PMID:29924869|PMID:30031152|PMID:30564305|PMID:32942984|PMID:33004838|PMID:33262327|PMID:33818307|PMID:34168285|PMID:35627176|PMID:38756210|PMID:9536098
8757869	Nrxn1	neurexin 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532
8757869	Nrxn1	neurexin 1	gene	DOID:8927	learning disability		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Learning disorder	PMID:25741868|PMID:28492532
8757869	Nrxn1	neurexin 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
8757869	Nrxn1	neurexin 1	gene	DOID:9001388	CHROMOSOME 2p16.3 DELETION SYNDROME		ISO	RGD:734185	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chromosome 2P16.3 deletion syndrome | ClinVar Annotator: match by term: Chromosome 2p16.3 deletion syndrome | ClinVar Annotator: match by term: NRXN1-related disorder	PMID:16199547|PMID:17034946|PMID:18179900|PMID:19896112|PMID:21288692|PMID:21424692|PMID:21964664|PMID:22405623|PMID:22504536|PMID:23495017|PMID:23533028|PMID:23849776|PMID:23863341|PMID:24832020|PMID:25149956|PMID:25741868|PMID:26185613|PMID:26467025|PMID:28343708|PMID:28492532|PMID:29754261|PMID:30031152|PMID:33004838|PMID:33262327|PMID:33818307|PMID:34168285|PMID:35627176|PMID:36368308|PMID:38756210
8757869	Nrxn1	neurexin 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
8757869	Nrxn1	neurexin 1	gene	DOID:9002916	Hyperphagia		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	
8757869	Nrxn1	neurexin 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8757869	Nrxn1	neurexin 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:734185	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8757869	Nrxn1	neurexin 1	gene	DOID:9005466	Language Development Disorders		ISO	RGD:734185	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20157312
8757869	Nrxn1	neurexin 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
8757869	Nrxn1	neurexin 1	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Shuffling gait	
8757869	Nrxn1	neurexin 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:734185	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:23849776|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29754261|PMID:30564305|PMID:33004838|PMID:33818307|PMID:35627176|PMID:38756210
8757869	Nrxn1	neurexin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8757869	Nrxn1	neurexin 1	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:734185	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18057082
8757869	Nrxn1	neurexin 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
8757869	Nrxn1	neurexin 1	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	
8757869	Nrxn1	neurexin 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:734185	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18057082
8757869	Nrxn1	neurexin 1	gene	DOID:9009160	schizophrenia 17		ISO	RGD:734185	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Schizophrenia 17	
8757869	Nrxn1	neurexin 1	gene	DOID:9009160	schizophrenia 17	susceptibility	ISO	RGD:734185	D	RGD:7240710	20260715	OMIM			
8757869	Nrxn1	neurexin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8757869	Nrxn1	neurexin 1	gene	DOID:9970	obesity		ISO	RGD:734185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
8757906	Sec61a1	SEC61 translocon subunit alpha 1	gene	DOID:0061120	autosomal dominant tubulointerstitial kidney disease 5		ISO	RGD:1351813	D	RGD:7240710	20190315	OMIM			
8757906	Sec61a1	SEC61 translocon subunit alpha 1	gene	DOID:0061120	autosomal dominant tubulointerstitial kidney disease 5		ISO	RGD:1351813	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperuricemic nephropathy, familial juvenile type 4 | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 5	PMID:25741868|PMID:27392076|PMID:28782633
8757906	Sec61a1	SEC61 translocon subunit alpha 1	gene	DOID:0110160	Charcot-Marie-Tooth disease axonal type 2T		ISO	RGD:1351813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T	PMID:25741868
8757906	Sec61a1	SEC61 translocon subunit alpha 1	gene	DOID:1115	sarcoma		ISO	RGD:1351813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8757906	Sec61a1	SEC61 translocon subunit alpha 1	gene	DOID:1324	lung cancer		ISO	RGD:1351813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8757906	Sec61a1	SEC61 translocon subunit alpha 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1351813	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8757906	Sec61a1	SEC61 translocon subunit alpha 1	gene	DOID:630	genetic disease		ISO	RGD:1351813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8757906	Sec61a1	SEC61 translocon subunit alpha 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8757906	Sec61a1	SEC61 translocon subunit alpha 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1351813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8757906	Sec61a1	SEC61 translocon subunit alpha 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8757906	Sec61a1	SEC61 translocon subunit alpha 1	gene	DOID:9007541	Common Variable Immunodeficiency 15		ISO	RGD:1351813	D	RGD:7240710	20240124	OMIM			
8757906	Sec61a1	SEC61 translocon subunit alpha 1	gene	DOID:9007541	Common Variable Immunodeficiency 15		ISO	RGD:1351813	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY, COMMON VARIABLE, 15	PMID:25741868|PMID:28782633
8757906	Sec61a1	SEC61 translocon subunit alpha 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1351813	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16759393
8757906	Sec61a1	SEC61 translocon subunit alpha 1	gene	DOID:9008837	Severe Congenital Neutropenia 11, Autosomal Dominant		ISO	RGD:1351813	D	RGD:7240710	20240124	OMIM			
8757906	Sec61a1	SEC61 translocon subunit alpha 1	gene	DOID:9008837	Severe Congenital Neutropenia 11, Autosomal Dominant		ISO	RGD:1351813	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neutropenia, severe congenital, 11, autosomal dominant	
8757923	Ccdc17	coiled-coil domain containing 17	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8757923	Ccdc17	coiled-coil domain containing 17	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1603565	D	RGD:9068941	20220513	RGD		DNA:SNP:3'utr: (rs2275085) T>C (human)	PMID:27354594|REF_RGD_ID:152177496
8757923	Ccdc17	coiled-coil domain containing 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8757923	Ccdc17	coiled-coil domain containing 17	gene	DOID:10534	stomach cancer		ISO	RGD:1603565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8757923	Ccdc17	coiled-coil domain containing 17	gene	DOID:1909	melanoma		ISO	RGD:1603565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8757923	Ccdc17	coiled-coil domain containing 17	gene	DOID:4362	cervical cancer		ISO	RGD:1603565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8757923	Ccdc17	coiled-coil domain containing 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757923	Ccdc17	coiled-coil domain containing 17	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8757923	Ccdc17	coiled-coil domain containing 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8757948	C3ar1	complement C3a receptor 1	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1353843	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	
8757948	C3ar1	complement C3a receptor 1	gene	DOID:0080600	COVID-19		ISO	RGD:1353843	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8757948	C3ar1	complement C3a receptor 1	gene	DOID:0080600	COVID-19		ISO	RGD:1353843	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8757948	C3ar1	complement C3a receptor 1	gene	DOID:10283	prostate cancer		ISO	RGD:1353843	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8757948	C3ar1	complement C3a receptor 1	gene	DOID:10283	prostate cancer		ISO	RGD:1353843	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8757948	C3ar1	complement C3a receptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8757948	C3ar1	complement C3a receptor 1	gene	DOID:11394	adult respiratory distress syndrome	treatment	ISO	RGD:620537	D	RGD:9068941	20200609	RGD			PMID:16782534|REF_RGD_ID:2303017
8757948	C3ar1	complement C3a receptor 1	gene	DOID:2841	asthma		ISO	RGD:620537	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, leukocyte	PMID:17544263|REF_RGD_ID:5129560
8757948	C3ar1	complement C3a receptor 1	gene	DOID:2841	asthma		ISO	RGD:731620	D	RGD:9068941	20200609	RGD			PMID:20802484|REF_RGD_ID:5129681
8757948	C3ar1	complement C3a receptor 1	gene	DOID:2841	asthma		ISO	RGD:731620	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:20045013|REF_RGD_ID:5129686
8757948	C3ar1	complement C3a receptor 1	gene	DOID:2841	asthma		ISO	RGD:731620	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, leukocyte	PMID:17544263|REF_RGD_ID:5129560
8757948	C3ar1	complement C3a receptor 1	gene	DOID:2841	asthma	severity	ISO	RGD:1353843	D	RGD:9068941	20200609	RGD			PMID:15278436|PMID:15940127|REF_RGD_ID:5129512|REF_RGD_ID:5129561
8757948	C3ar1	complement C3a receptor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8757948	C3ar1	complement C3a receptor 1	gene	DOID:4483	rhinitis	severity	ISO	RGD:1353843	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal cavity	PMID:18538384|REF_RGD_ID:5129559
8757948	C3ar1	complement C3a receptor 1	gene	DOID:552	pneumonia		ISO	RGD:731620	D	RGD:9068941	20200609	RGD		associated with Respiratory Syncytial Virus Infections	PMID:17079327|REF_RGD_ID:5129688
8757948	C3ar1	complement C3a receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757948	C3ar1	complement C3a receptor 1	gene	DOID:850	lung disease		ISO	RGD:620537	D	RGD:9068941	20200609	RGD		Acute Lung Injury;protein:increased expression:lung, leukocyte	PMID:17544263|REF_RGD_ID:5129560
8757948	C3ar1	complement C3a receptor 1	gene	DOID:850	lung disease		ISO	RGD:731620	D	RGD:9068941	20200609	RGD		Acute Lung Injury	PMID:21421909|REF_RGD_ID:5129564
8757948	C3ar1	complement C3a receptor 1	gene	DOID:850	lung disease		ISO	RGD:731620	D	RGD:9068941	20200609	RGD		Acute Lung Injury;protein:increased expression:lung, leukocyte	PMID:17544263|REF_RGD_ID:5129560
8757948	C3ar1	complement C3a receptor 1	gene	DOID:874	bacterial pneumonia		ISO	RGD:731620	D	RGD:9068941	20200609	RGD			PMID:16461429|REF_RGD_ID:5129690
8757948	C3ar1	complement C3a receptor 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620537	D	RGD:9068941	20200609	RGD			PMID:15159277|REF_RGD_ID:5129702
8757948	C3ar1	complement C3a receptor 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:731620	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, leukocyte	PMID:17544263|REF_RGD_ID:5129560
8757966	Mrps2	mitochondrial ribosomal protein S2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8757966	Mrps2	mitochondrial ribosomal protein S2	gene	DOID:0111482	combined oxidative phosphorylation deficiency 36		ISO	RGD:1319275	D	RGD:7240710	20190315	OMIM			
8757966	Mrps2	mitochondrial ribosomal protein S2	gene	DOID:0111482	combined oxidative phosphorylation deficiency 36		ISO	RGD:1319275	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 36 | ClinVar Annotator: match by term: MRPS2-related condition	PMID:25741868|PMID:28492532
8757966	Mrps2	mitochondrial ribosomal protein S2	gene	DOID:10534	stomach cancer		ISO	RGD:1319275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8757966	Mrps2	mitochondrial ribosomal protein S2	gene	DOID:3275	thymoma		ISO	RGD:1319275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8757966	Mrps2	mitochondrial ribosomal protein S2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757966	Mrps2	mitochondrial ribosomal protein S2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8757966	Mrps2	mitochondrial ribosomal protein S2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8757966	Mrps2	mitochondrial ribosomal protein S2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8757974	Atad2	ATPase family AAA domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8757974	Atad2	ATPase family AAA domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8757974	Atad2	ATPase family AAA domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8757974	Atad2	ATPase family AAA domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8757974	Atad2	ATPase family AAA domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8757974	Atad2	ATPase family AAA domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8757974	Atad2	ATPase family AAA domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8757974	Atad2	ATPase family AAA domain containing 2	gene	DOID:3070	high grade glioma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8757974	Atad2	ATPase family AAA domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8757974	Atad2	ATPase family AAA domain containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8757974	Atad2	ATPase family AAA domain containing 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8757974	Atad2	ATPase family AAA domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8757974	Atad2	ATPase family AAA domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8757974	Atad2	ATPase family AAA domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312522	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8757974	Atad2	ATPase family AAA domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8757974	Atad2	ATPase family AAA domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8757974	Atad2	ATPase family AAA domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8757974	Atad2	ATPase family AAA domain containing 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8757974	Atad2	ATPase family AAA domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8757974	Atad2	ATPase family AAA domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8758011	Clasrp	CLK4 associating serine/arginine rich protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8758011	Clasrp	CLK4 associating serine/arginine rich protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347770	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8758011	Clasrp	CLK4 associating serine/arginine rich protein	gene	DOID:0060058	lymphoma		ISO	RGD:1347770	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8758011	Clasrp	CLK4 associating serine/arginine rich protein	gene	DOID:10534	stomach cancer		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8758011	Clasrp	CLK4 associating serine/arginine rich protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8758011	Clasrp	CLK4 associating serine/arginine rich protein	gene	DOID:1115	sarcoma		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8758011	Clasrp	CLK4 associating serine/arginine rich protein	gene	DOID:1324	lung cancer		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8758011	Clasrp	CLK4 associating serine/arginine rich protein	gene	DOID:1909	melanoma		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8758011	Clasrp	CLK4 associating serine/arginine rich protein	gene	DOID:3275	thymoma		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8758011	Clasrp	CLK4 associating serine/arginine rich protein	gene	DOID:4362	cervical cancer		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8758011	Clasrp	CLK4 associating serine/arginine rich protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8758011	Clasrp	CLK4 associating serine/arginine rich protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758011	Clasrp	CLK4 associating serine/arginine rich protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8758011	Clasrp	CLK4 associating serine/arginine rich protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8758011	Clasrp	CLK4 associating serine/arginine rich protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8758011	Clasrp	CLK4 associating serine/arginine rich protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:0051061	stroke		ISO	RGD:730969	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17258300|REF_RGD_ID:1620776
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:0060058	lymphoma		ISO	RGD:730969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:0080011	bone resorption disease		ISO	RGD:730969	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15845617|PMID:18496637|PMID:23333834
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:0080162	lupus nephritis		ISO	RGD:730969	D	RGD:9068941	20200609	RGD		associated with Lupus Erythematosus, Systemic;protein:increased expression:urine	PMID:21691937|REF_RGD_ID:7205483
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:0081368	Paget disease of bone 5		ISO	RGD:730969	D	RGD:7240710	20180214	OMIM			
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:0081368	Paget disease of bone 5		ISO	RGD:730969	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease | ClinVar Annotator: match by term: Hyperphosphatasemia, chronic congenital idiopathic | ClinVar Annotator: match by term: PAGET DISEASE OF BONE 5, JUVENILE-ONSET | ClinVar Annotator: match by term: TNFRSF11B-related condition	PMID:14672344|PMID:19436932|PMID:23837846|PMID:25741868|PMID:26762549|PMID:28492532|PMID:34166796
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:0111582	hereditary arterial and articular multiple calcification syndrome		ISO	RGD:730969	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;protein:increased expression:serum	PMID:22386825|REF_RGD_ID:7205494
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:10534	stomach cancer		ISO	RGD:730969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:730969	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21659498|REF_RGD_ID:7205513
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:10763	hypertension	severity	ISO	RGD:730969	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22050177|REF_RGD_ID:7205512
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:11476	osteoporosis		ISO	RGD:11035	D	RGD:9068941	20220825	MouseDO		OMIM:166710	
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:11476	osteoporosis		ISO	RGD:730969	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17667143
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:11476	osteoporosis	treatment	ISO	RGD:619802	D	RGD:9068941	20250320	RGD		associated with alcohol use disorder	PMID:29698972|REF_RGD_ID:598092493
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:1184	nephrotic syndrome		ISO	RGD:730969	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:22989431|REF_RGD_ID:7205481
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:12466	secondary hyperparathyroidism	treatment	ISO	RGD:730969	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic	PMID:22156488|REF_RGD_ID:7205487
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:12678	hypercalcemia		ISO	RGD:730969	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15845617
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:13001	carotid stenosis		ISO	RGD:730969	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26564003
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:1712	aortic valve stenosis		ISO	RGD:730969	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20211333|REF_RGD_ID:7205491
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:3312	bipolar disorder		ISO	RGD:730969	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:20861651|REF_RGD_ID:7205488
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:3393	coronary artery disease		ISO	RGD:730969	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15926884|REF_RGD_ID:1620893
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:3407	carotid artery disease	disease_progression	ISO	RGD:730969	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15117849|REF_RGD_ID:1624168
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:341	peripheral vascular disease	severity	ISO	RGD:730969	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16115489|REF_RGD_ID:1624125
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:3526	cerebral infarction	disease_progression	ISO	RGD:730969	D	RGD:9068941	20200609	RGD			PMID:19895657|REF_RGD_ID:7205492
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:4248	coronary stenosis		ISO	RGD:730969	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15569000|REF_RGD_ID:1624167
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:4676	uremia		ISO	RGD:730969	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19092814
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:5199	ureteral obstruction		ISO	RGD:11035	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tibia	PMID:22943310|REF_RGD_ID:7205482
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:5408	Paget disease of bone	susceptibility	ISO	RGD:730969	D	RGD:9068941	20200609	RGD		DNA:deletion:exon	PMID:12189164|REF_RGD_ID:1620794
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:5419	schizophrenia		ISO	RGD:730969	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:20861651|REF_RGD_ID:7205488
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:5844	myocardial infarction		ISO	RGD:730969	D	RGD:9068941	20200609	RGD			PMID:15926884|REF_RGD_ID:1620893
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:6000	congestive heart failure		ISO	RGD:619802	D	RGD:9068941	20200609	RGD		mRNA, protein:incereased expression:myocardium	PMID:15883214|REF_RGD_ID:1624176
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:630	genetic disease		ISO	RGD:730969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:65	connective tissue disease		ISO	RGD:730969	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:730969	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23333834
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:783	end stage renal disease	severity	ISO	RGD:730969	D	RGD:9068941	20200609	RGD			PMID:21479768|REF_RGD_ID:7205485
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:820	myocarditis		ISO	RGD:619802	D	RGD:9068941	20200609	RGD		associated with Autoimmune Diseases;mRNA:increased expression:heart myocardium	PMID:18417124|REF_RGD_ID:2302361
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:823	periapical periodontitis	treatment	ISO	RGD:619802	D	RGD:9068941	20210226	RGD		Lactobacillus acidophilus	PMID:32436602|REF_RGD_ID:42721981
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:8398	osteoarthritis	disease_progression	ISO	RGD:730969	D	RGD:9068941	20200609	RGD			PMID:15334463|REF_RGD_ID:1625347
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:619802	D	RGD:9068941	20230720	RGD		associated with periodontal disease	PMID:33364953|REF_RGD_ID:329956421
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730969	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;protein:increased expression:serum	PMID:23167338|REF_RGD_ID:7205479
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:9001547	Tibial Fractures		ISO	RGD:619802	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:18592139|REF_RGD_ID:2302324
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:9002165	Diabetic Nephropathies	disease_progression	ISO	RGD:730969	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1	PMID:18719882|REF_RGD_ID:7205493
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:730969	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:20727867|REF_RGD_ID:7205514
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:9002211	Hyperalgesia		ISO	RGD:730969	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16769263
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:619802	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:bone	PMID:16696922|REF_RGD_ID:1624171
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:730969	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23333834
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:619802	D	RGD:9068941	20210226	RGD		Sinomenine CHEBI:9163	PMID:24066131|REF_RGD_ID:42721982
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:9002699	Periapical Diseases		ISO	RGD:619802	D	RGD:9068941	20200609	RGD			PMID:21793936|REF_RGD_ID:7205516
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:9005372	Inflammation		ISO	RGD:730969	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23333834
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:9006081	Osteolysis		ISO	RGD:730969	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12548581
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:9007692	Insulin Resistance		ISO	RGD:730969	D	RGD:9068941	20200609	RGD		associated with obesity;protein:increased expression:serum	PMID:15936463|REF_RGD_ID:1620889
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:9008778	Coronary Artery Calcification	severity	ISO	RGD:730969	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic	PMID:22943310|REF_RGD_ID:7205482
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:9008887	Microvascular Angina		ISO	RGD:730969	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:15648548|REF_RGD_ID:1620974
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:9352	type 2 diabetes mellitus	severity	ISO	RGD:730969	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22050177|REF_RGD_ID:7205512
8758056	Tnfrsf11b	TNF receptor superfamily member 11b	gene	DOID:9744	type 1 diabetes mellitus	treatment	ISO	RGD:619802	D	RGD:9068941	20250320	RGD			PMID:31096652|REF_RGD_ID:598092496
8758065	Diaph3	diaphanous related formin 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
8758065	Diaph3	diaphanous related formin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8758065	Diaph3	diaphanous related formin 3	gene	DOID:0060690	autosomal dominant auditory neuropathy 1		ISO	RGD:1350370	D	RGD:7240710	20180130	OMIM			
8758065	Diaph3	diaphanous related formin 3	gene	DOID:0060690	autosomal dominant auditory neuropathy 1		ISO	RGD:1350370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: AUDITORY NEUROPATHY, NONSYNDROMIC DOMINANT | ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant, 1 | ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition	PMID:17576681|PMID:20624953|PMID:21220648|PMID:25741868|PMID:26467025|PMID:27658576|PMID:28492532|PMID:9536098
8758065	Diaph3	diaphanous related formin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1350370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8758065	Diaph3	diaphanous related formin 3	gene	DOID:1324	lung cancer		ISO	RGD:1350370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8758065	Diaph3	diaphanous related formin 3	gene	DOID:1338	congenital dyserythropoietic anemia		ISO	RGD:1314906	D	RGD:9068941	20220825	MouseDO			
8758065	Diaph3	diaphanous related formin 3	gene	DOID:1909	melanoma		ISO	RGD:1350370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8758065	Diaph3	diaphanous related formin 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
8758065	Diaph3	diaphanous related formin 3	gene	DOID:3275	thymoma		ISO	RGD:1350370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8758065	Diaph3	diaphanous related formin 3	gene	DOID:4362	cervical cancer		ISO	RGD:1350370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8758065	Diaph3	diaphanous related formin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1350370	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
8758065	Diaph3	diaphanous related formin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758065	Diaph3	diaphanous related formin 3	gene	DOID:9001890	Auditory Neuropathy		ISO	RGD:1350370	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Auditory neuropathy | ClinVar Annotator: match by term: auditory neuropathy	PMID:25741868|PMID:28492532
8758065	Diaph3	diaphanous related formin 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1350370	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:28492532|PMID:30311386
8758065	Diaph3	diaphanous related formin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8758065	Diaph3	diaphanous related formin 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532
8758096	Chchd3	coiled-coil-helix-coiled-coil-helix domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8758096	Chchd3	coiled-coil-helix-coiled-coil-helix domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1321163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8758096	Chchd3	coiled-coil-helix-coiled-coil-helix domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1321163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8758096	Chchd3	coiled-coil-helix-coiled-coil-helix domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1321163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8758096	Chchd3	coiled-coil-helix-coiled-coil-helix domain containing 3	gene	DOID:303	substance-related disorder		ISO	RGD:1321163	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8758096	Chchd3	coiled-coil-helix-coiled-coil-helix domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1321163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8758096	Chchd3	coiled-coil-helix-coiled-coil-helix domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8758096	Chchd3	coiled-coil-helix-coiled-coil-helix domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1321163	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8758096	Chchd3	coiled-coil-helix-coiled-coil-helix domain containing 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8758096	Chchd3	coiled-coil-helix-coiled-coil-helix domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758096	Chchd3	coiled-coil-helix-coiled-coil-helix domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8758111	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8758111	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:0080600	COVID-19		ISO	RGD:1313803	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8758111	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:10534	stomach cancer		ISO	RGD:1313803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8758111	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:1793	pancreatic cancer		ISO	RGD:1313803	D	RGD:9068941	20200609	RGD			PMID:16434023|REF_RGD_ID:2317701
8758111	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:1909	melanoma		ISO	RGD:1313803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8758111	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:4362	cervical cancer		ISO	RGD:1313803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8758111	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:5041	esophageal cancer		ISO	RGD:1313803	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8758111	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758111	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8758111	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8758111	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8758111	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8758111	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8758111	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8758135	C1qc	complement C1q C chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
8758135	C1qc	complement C1q C chain	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1315664	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:34142820
8758135	C1qc	complement C1q C chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8758135	C1qc	complement C1q C chain	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:1315664	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:35789393
8758135	C1qc	complement C1q C chain	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1315664	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:35789393
8758135	C1qc	complement C1q C chain	gene	DOID:0080600	COVID-19		ISO	RGD:1315664	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8758135	C1qc	complement C1q C chain	gene	DOID:1115	sarcoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8758135	C1qc	complement C1q C chain	gene	DOID:1324	lung cancer		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
8758135	C1qc	complement C1q C chain	gene	DOID:1883	hepatitis C		ISO	RGD:1315664	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:35789393
8758135	C1qc	complement C1q C chain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
8758135	C1qc	complement C1q C chain	gene	DOID:3275	thymoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8758135	C1qc	complement C1q C chain	gene	DOID:4362	cervical cancer		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
8758135	C1qc	complement C1q C chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8758135	C1qc	complement C1q C chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1315664	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8758135	C1qc	complement C1q C chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8758135	C1qc	complement C1q C chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8758135	C1qc	complement C1q C chain	gene	DOID:630	genetic disease		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8758135	C1qc	complement C1q C chain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315664	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8758135	C1qc	complement C1q C chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
8758135	C1qc	complement C1q C chain	gene	DOID:9007516	C1q Deficiency		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: C1Q DEFICIENCY | ClinVar Annotator: match by term: C1Q deficiency	PMID:20635792|PMID:21654842|PMID:25741868|PMID:28082982|PMID:28492532|PMID:30008451|PMID:31357913|PMID:7900940|PMID:8630118
8758135	C1qc	complement C1q C chain	gene	DOID:9007652	C1q Deficiency 3		ISO	RGD:1315664	D	RGD:7240710	20230505	OMIM			
8758135	C1qc	complement C1q C chain	gene	DOID:9007652	C1q Deficiency 3		ISO	RGD:1315664	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: C1Q DEFICIENCY 3 | ClinVar Annotator: match by term: C1QC-related condition	PMID:24157463|PMID:28492532|PMID:8630118
8758135	C1qc	complement C1q C chain	gene	DOID:9007806	Drug Hypersensitivity Syndrome		ISO	RGD:1315664	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:34142820
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:0050749	peripheral T-cell lymphoma		ISO	RGD:1606790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413734|PMID:24413737
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1606790	D	RGD:9068941	20210910	RGD		protein:decreased expression:oral epithelium (human)	PMID:24122999|REF_RGD_ID:150429611
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1606790	D	RGD:7240710	20180130	OMIM			
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:0050908	myelodysplastic syndrome	severity	ISO	RGD:1606790	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple	PMID:23099237|REF_RGD_ID:10450876
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:0050912	colon adenoma		ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA:decreased expression:colon (human)	PMID:29875879|REF_RGD_ID:150429665
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1606790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26285909
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:0080188	chronic myelomonocytic leukemia		ISO	RGD:1606790	D	RGD:9068941	20200609	RGD		DNA:missense mutations, nonsense mutations, splice-site mutations:multiple	PMID:20693430|REF_RGD_ID:11038679
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1606790	D	RGD:9068941	20210910	RGD		mRNA, protein:decreased expression:stomach (human)	PMID:27027260|REF_RGD_ID:150429612
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		associated with Neoplasm Metastasis; human cells in mouse model	PMID:31242038|REF_RGD_ID:150429653
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA:decreased expression:stomach (human)	PMID:31242038|REF_RGD_ID:150429653
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		human cells in mouse model	PMID:33058920|REF_RGD_ID:150429654
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:1115	sarcoma		ISO	RGD:1606790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:1612	breast cancer		ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA:increased expression: Blood, peripheral blood mononuclear cells (human)	PMID:30713804|REF_RGD_ID:150429690
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:2226	myeloproliferative neoplasm		ISO	RGD:1606790	D	RGD:9068941	20200609	RGD		DNA:missense mutations: :p.R686S (c.2058A>T), p.L1340P (c.4019T>C), p.H1868R (c.5603A>G) (human)	PMID:19564637|REF_RGD_ID:11038680
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA:increased expression:colorectum, Cancer Stem-like Cells (human)	PMID:31057717|REF_RGD_ID:150429686
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human)	PMID:27050164|REF_RGD_ID:150429668
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA:decreased expression:esophagus squamous epithelium (human)	PMID:26093090|REF_RGD_ID:11528815
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:3748	esophagus squamous cell carcinoma	severity	ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		DNA:mutations	PMID:26873401|REF_RGD_ID:150429656
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		DNA:mutations:multiple	PMID:32554069|REF_RGD_ID:150429694
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1606790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23797736
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA:decreased expression:liver (human)	PMID:26366235|REF_RGD_ID:150429684
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1606790	D	RGD:9068941	20210910	RGD		human cells in mouse model	PMID:29331390|PMID:33097695|REF_RGD_ID:150429595|REF_RGD_ID:150429597
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA:decreased expression:liver (human)	PMID:30070373|REF_RGD_ID:150429689
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA, protein:decreased expression:liver (human)	PMID:33097695|REF_RGD_ID:150429597
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA, protein:increased expression:liver (human)	PMID:29331390|REF_RGD_ID:150429595
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:8541	Sezary's disease		ISO	RGD:1606790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26551667
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1606790	D	RGD:9068941	20210910	RGD		associated with colorectal cancer; protein:decreased expression:colorectum (human)	PMID:33552282|REF_RGD_ID:150429609
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1606790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23593118
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9004253	Immunoblastic Lymphadenopathy		ISO	RGD:1606790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413737
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9004473	Monocytosis		ISO	RGD:1323180	D	RGD:9068941	20200609	RGD			PMID:24218139|REF_RGD_ID:11038772
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9004835	Immunodeficiency 75		ISO	RGD:1606790	D	RGD:7240710	20210113	OMIM			
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1606790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26285909
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9005969	Refractory Anemia with Excess of Blasts	disease_progression	ISO	RGD:1606790	D	RGD:9068941	20200609	RGD			PMID:25200248|REF_RGD_ID:11038682
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1606790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30510241
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606790	D	RGD:9068941	20200609	RGD		DNA:deletions	PMID:23389918|REF_RGD_ID:11038681
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1606790	D	RGD:9068941	20200609	RGD			PMID:25200248|REF_RGD_ID:11038682
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1606790	D	RGD:9068941	20210910	RGD		associated with Neoplasm Metastasis; mRNA:decreased expression:colorectum (human)	PMID:26816554|REF_RGD_ID:150429613
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA, protein:increased expression:colorectum, CD4 positive T cells (human)	PMID:30013992|REF_RGD_ID:150429655
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA:decreased expression:colon (human)	PMID:29875879|REF_RGD_ID:150429665
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA:increased expression: Blood, peripheral blood mononuclear cells (human)	PMID:30713804|REF_RGD_ID:150429690
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9261	nasopharynx carcinoma	severity	ISO	RGD:1606790	D	RGD:9068941	20210910	RGD		human cells in mouse model	PMID:32774157|REF_RGD_ID:150429610
8758145	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9538	multiple myeloma		ISO	RGD:1606790	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
8758162	Ebi3	Epstein-Barr virus induced 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1353395	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8758162	Ebi3	Epstein-Barr virus induced 3	gene	DOID:10591	pre-eclampsia	ameliorates	ISO	RGD:1589467	D	RGD:9068941	20230323	RGD			PMID:31203154|REF_RGD_ID:213230155
8758162	Ebi3	Epstein-Barr virus induced 3	gene	DOID:1324	lung cancer		ISO	RGD:1353395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8758162	Ebi3	Epstein-Barr virus induced 3	gene	DOID:2841	asthma		ISO	RGD:1615927	D	RGD:9068941	20200609	RGD			PMID:21255010|REF_RGD_ID:5128488
8758162	Ebi3	Epstein-Barr virus induced 3	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1353395	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
8758162	Ebi3	Epstein-Barr virus induced 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8758162	Ebi3	Epstein-Barr virus induced 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8758181	Rusc2	RUN and SH3 domain containing 2	gene	DOID:0080239	autosomal recessive intellectual developmental disorder 61		ISO	RGD:1351272	D	RGD:7240710	20190315	OMIM			
8758181	Rusc2	RUN and SH3 domain containing 2	gene	DOID:0080239	autosomal recessive intellectual developmental disorder 61		ISO	RGD:1351272	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 61 | ClinVar Annotator: match by term: RUSC2-related condition	PMID:25741868|PMID:27612186|PMID:28492532
8758181	Rusc2	RUN and SH3 domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8758181	Rusc2	RUN and SH3 domain containing 2	gene	DOID:1059	intellectual disability		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868
8758181	Rusc2	RUN and SH3 domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8758181	Rusc2	RUN and SH3 domain containing 2	gene	DOID:12849	autistic disorder		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
8758181	Rusc2	RUN and SH3 domain containing 2	gene	DOID:1826	epilepsy		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8758181	Rusc2	RUN and SH3 domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8758181	Rusc2	RUN and SH3 domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8758181	Rusc2	RUN and SH3 domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8758181	Rusc2	RUN and SH3 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758181	Rusc2	RUN and SH3 domain containing 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
8758181	Rusc2	RUN and SH3 domain containing 2	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:25741868
8758181	Rusc2	RUN and SH3 domain containing 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
8758181	Rusc2	RUN and SH3 domain containing 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
8758181	Rusc2	RUN and SH3 domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8758181	Rusc2	RUN and SH3 domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8758181	Rusc2	RUN and SH3 domain containing 2	gene	DOID:936	brain disease		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:28492532
8758181	Rusc2	RUN and SH3 domain containing 2	gene	DOID:9970	obesity		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
8758203	Pnkd	PNKD metallo-beta-lactamase domain containing	gene	DOID:0090049	paroxysmal nonkinesigenic dyskinesia 1		ISO	RGD:1346850	D	RGD:7240710	20180130	OMIM			
8758203	Pnkd	PNKD metallo-beta-lactamase domain containing	gene	DOID:0090049	paroxysmal nonkinesigenic dyskinesia 1		ISO	RGD:1346850	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 | ClinVar Annotator: match by term: PNKD-related disorder | ClinVar Annotator: match by term: Paroxysmal non-kinesigenic dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1	PMID:10612827|PMID:15262732|PMID:15496428|PMID:15824259|PMID:16199547|PMID:17576681|PMID:19124534|PMID:21487022|PMID:22967746|PMID:25107857|PMID:25741868|PMID:28492532|PMID:37541188|PMID:9536098
8758203	Pnkd	PNKD metallo-beta-lactamase domain containing	gene	DOID:1059	intellectual disability		ISO	RGD:1346850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
8758203	Pnkd	PNKD metallo-beta-lactamase domain containing	gene	DOID:12859	choreatic disease		ISO	RGD:1346850	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Paroxysmal dyskinesia	PMID:15262732|PMID:15496428|PMID:25741868|PMID:28492532
8758203	Pnkd	PNKD metallo-beta-lactamase domain containing	gene	DOID:1826	epilepsy		ISO	RGD:1346850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
8758203	Pnkd	PNKD metallo-beta-lactamase domain containing	gene	DOID:3275	thymoma		ISO	RGD:1346850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8758203	Pnkd	PNKD metallo-beta-lactamase domain containing	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1346850	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:25401301
8758203	Pnkd	PNKD metallo-beta-lactamase domain containing	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1346850	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
8758203	Pnkd	PNKD metallo-beta-lactamase domain containing	gene	DOID:543	dystonia		ISO	RGD:1346850	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:15262732|PMID:15496428|PMID:25741868|PMID:28492532
8758203	Pnkd	PNKD metallo-beta-lactamase domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758203	Pnkd	PNKD metallo-beta-lactamase domain containing	gene	DOID:630	genetic disease		ISO	RGD:1346850	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8758203	Pnkd	PNKD metallo-beta-lactamase domain containing	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8758203	Pnkd	PNKD metallo-beta-lactamase domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8758203	Pnkd	PNKD metallo-beta-lactamase domain containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8758232	Acyp1	acylphosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758232	Acyp1	acylphosphatase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8758232	Acyp1	acylphosphatase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8758239	Slc38a6	solute carrier family 38 member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8758239	Slc38a6	solute carrier family 38 member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8758239	Slc38a6	solute carrier family 38 member 6	gene	DOID:1115	sarcoma		ISO	RGD:1321172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8758239	Slc38a6	solute carrier family 38 member 6	gene	DOID:1324	lung cancer		ISO	RGD:1321172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8758239	Slc38a6	solute carrier family 38 member 6	gene	DOID:1909	melanoma		ISO	RGD:1321172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8758239	Slc38a6	solute carrier family 38 member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1321172	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8758239	Slc38a6	solute carrier family 38 member 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8758239	Slc38a6	solute carrier family 38 member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758239	Slc38a6	solute carrier family 38 member 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8758239	Slc38a6	solute carrier family 38 member 6	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1321172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8758239	Slc38a6	solute carrier family 38 member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8758239	Slc38a6	solute carrier family 38 member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8758239	Slc38a6	solute carrier family 38 member 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8758264	Chtop	chromatin target of PRMT1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8758264	Chtop	chromatin target of PRMT1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8758264	Chtop	chromatin target of PRMT1	gene	DOID:1324	lung cancer		ISO	RGD:1607051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8758264	Chtop	chromatin target of PRMT1	gene	DOID:1909	melanoma		ISO	RGD:1607051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8758264	Chtop	chromatin target of PRMT1	gene	DOID:4362	cervical cancer		ISO	RGD:1607051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8758264	Chtop	chromatin target of PRMT1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1607051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8758264	Chtop	chromatin target of PRMT1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1607051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8758264	Chtop	chromatin target of PRMT1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758264	Chtop	chromatin target of PRMT1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1607051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8758264	Chtop	chromatin target of PRMT1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8758286	Ern2	endoplasmic reticulum to nucleus signaling 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8758286	Ern2	endoplasmic reticulum to nucleus signaling 2	gene	DOID:10534	stomach cancer		ISO	RGD:1346348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8758286	Ern2	endoplasmic reticulum to nucleus signaling 2	gene	DOID:1115	sarcoma		ISO	RGD:1346348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8758286	Ern2	endoplasmic reticulum to nucleus signaling 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8758286	Ern2	endoplasmic reticulum to nucleus signaling 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8758286	Ern2	endoplasmic reticulum to nucleus signaling 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758313	Prkcb	protein kinase C beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8758313	Prkcb	protein kinase C beta	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:731404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437031
8758313	Prkcb	protein kinase C beta	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:731404	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: SENSORINEURAL HEARING LOSS	PMID:27329761
8758313	Prkcb	protein kinase C beta	gene	DOID:10325	silicosis		ISO	RGD:3396	D	RGD:9068941	20200609	RGD		protein:increased activation:alveolar macrophage	PMID:14680365|REF_RGD_ID:1625527
8758313	Prkcb	protein kinase C beta	gene	DOID:10534	stomach cancer		ISO	RGD:731404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8758313	Prkcb	protein kinase C beta	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731404	D	RGD:9068941	20200609	RGD			PMID:8534418|REF_RGD_ID:13825140
8758313	Prkcb	protein kinase C beta	gene	DOID:10763	hypertension		ISO	RGD:3396	D	RGD:9068941	20200609	RGD			PMID:15804434|REF_RGD_ID:1625513
8758313	Prkcb	protein kinase C beta	gene	DOID:12849	autistic disorder		ISO	RGD:731404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16027742
8758313	Prkcb	protein kinase C beta	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731404	D	RGD:9068941	20200609	RGD			PMID:9918525|REF_RGD_ID:1581274
8758313	Prkcb	protein kinase C beta	gene	DOID:1324	lung cancer		ISO	RGD:731404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8758313	Prkcb	protein kinase C beta	gene	DOID:1824	status epilepticus		ISO	RGD:3396	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus	PMID:15058486|REF_RGD_ID:1625525
8758313	Prkcb	protein kinase C beta	gene	DOID:1909	melanoma		ISO	RGD:731404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8758313	Prkcb	protein kinase C beta	gene	DOID:2914	immune system disease		ISO	RGD:1550017	D	RGD:9068941	20200609	RGD			PMID:12118249|REF_RGD_ID:737729
8758313	Prkcb	protein kinase C beta	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8758313	Prkcb	protein kinase C beta	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:731404	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter:lung	PMID:28422739|REF_RGD_ID:13503321
8758313	Prkcb	protein kinase C beta	gene	DOID:4195	hyperglycemia		ISO	RGD:3396	D	RGD:9068941	20200609	RGD			PMID:15616014|REF_RGD_ID:1625514
8758313	Prkcb	protein kinase C beta	gene	DOID:4195	hyperglycemia		ISO	RGD:731404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17443133
8758313	Prkcb	protein kinase C beta	gene	DOID:4362	cervical cancer		ISO	RGD:731404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8758313	Prkcb	protein kinase C beta	gene	DOID:5041	esophageal cancer		ISO	RGD:731404	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8758313	Prkcb	protein kinase C beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758313	Prkcb	protein kinase C beta	gene	DOID:6000	congestive heart failure		ISO	RGD:3396	D	RGD:9068941	20200609	RGD		associated with hypertension	PMID:12392998|REF_RGD_ID:1625516
8758313	Prkcb	protein kinase C beta	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:731404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17003101
8758313	Prkcb	protein kinase C beta	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8758313	Prkcb	protein kinase C beta	gene	DOID:9001984	Fetal Diseases		ISO	RGD:3396	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased expression	PMID:15496608|REF_RGD_ID:1625524
8758313	Prkcb	protein kinase C beta	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:3396	D	RGD:9068941	20200609	RGD		associated with hypertension;protein:increased expression:glomerular mesangium	PMID:12540629|REF_RGD_ID:729635
8758313	Prkcb	protein kinase C beta	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:731404	D	RGD:9068941	20231102	RGD		mRNA:increased expression:nephron tubule (human)	PMID:35592524|REF_RGD_ID:401851916
8758313	Prkcb	protein kinase C beta	gene	DOID:9002211	Hyperalgesia		ISO	RGD:3396	D	RGD:9068941	20200609	RGD		associated with inflammation;protein:increased activity:spinal cord	PMID:16360284|REF_RGD_ID:1625519
8758313	Prkcb	protein kinase C beta	gene	DOID:9003936	Cardiomegaly		ISO	RGD:3396	D	RGD:9068941	20200609	RGD			PMID:12887134|REF_RGD_ID:1581276
8758313	Prkcb	protein kinase C beta	gene	DOID:9003936	Cardiomegaly		ISO	RGD:731404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17121852
8758313	Prkcb	protein kinase C beta	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:3396	D	RGD:9068941	20200609	RGD			PMID:16900949|REF_RGD_ID:1581275
8758313	Prkcb	protein kinase C beta	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3396	D	RGD:9068941	20200609	RGD		protein:increased expression:myocardium	PMID:17250813|REF_RGD_ID:1625511
8758313	Prkcb	protein kinase C beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8758313	Prkcb	protein kinase C beta	gene	DOID:9007692	Insulin Resistance		ISO	RGD:3396	D	RGD:9068941	20200609	RGD			PMID:12665248|REF_RGD_ID:1625515
8758313	Prkcb	protein kinase C beta	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:3396	D	RGD:9068941	20200609	RGD			PMID:15878997|REF_RGD_ID:1625520
8758313	Prkcb	protein kinase C beta	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:731404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7705931
8758313	Prkcb	protein kinase C beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8758313	Prkcb	protein kinase C beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8758313	Prkcb	protein kinase C beta	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15531508
8758313	Prkcb	protein kinase C beta	gene	DOID:9970	obesity		ISO	RGD:3396	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:mononuclear cell	PMID:17180352|REF_RGD_ID:1625512
8758345	Dsc1	desmocollin 1	gene	DOID:1909	melanoma		ISO	RGD:1321863	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22197931
8758345	Dsc1	desmocollin 1	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:1321863	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:gingival tissues	PMID:21382035|REF_RGD_ID:6480655
8758381	Pla2g4d	phospholipase A2 group IVD	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8758381	Pla2g4d	phospholipase A2 group IVD	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8758381	Pla2g4d	phospholipase A2 group IVD	gene	DOID:10534	stomach cancer		ISO	RGD:1352050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8758381	Pla2g4d	phospholipase A2 group IVD	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8758381	Pla2g4d	phospholipase A2 group IVD	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8758381	Pla2g4d	phospholipase A2 group IVD	gene	DOID:4362	cervical cancer		ISO	RGD:1352050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8758381	Pla2g4d	phospholipase A2 group IVD	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8758381	Pla2g4d	phospholipase A2 group IVD	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8758405	Hs6st1	heparan sulfate 6-O-sulfotransferase 1	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1319437	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:21700882|PMID:23643382|PMID:24033266|PMID:25636053|PMID:25741868|PMID:28492532
8758405	Hs6st1	heparan sulfate 6-O-sulfotransferase 1	gene	DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia		ISO	RGD:1319437	D	RGD:7240710	20180130	OMIM			
8758405	Hs6st1	heparan sulfate 6-O-sulfotransferase 1	gene	DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia		ISO	RGD:1319437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HS6ST1-related condition | ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 15 WITH ANOSMIA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with or without anosmia	PMID:21700882|PMID:23643382|PMID:24033266|PMID:25077900|PMID:25636053|PMID:25741868|PMID:28492532
8758405	Hs6st1	heparan sulfate 6-O-sulfotransferase 1	gene	DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia		ISO	RGD:1319437	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia	PMID:21700882|PMID:23643382|PMID:24033266|PMID:25636053|PMID:25741868|PMID:28492532
8758405	Hs6st1	heparan sulfate 6-O-sulfotransferase 1	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:1319437	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:21700882|PMID:23643382|PMID:24033266|PMID:25636053|PMID:25741868|PMID:28492532
8758411	Bhlhe40	basic helix-loop-helix family member e40	gene	DOID:0050628	advanced sleep phase syndrome		ISO	RGD:68659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25395965
8758411	Bhlhe40	basic helix-loop-helix family member e40	gene	DOID:0080600	COVID-19		ISO	RGD:68659	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
8758411	Bhlhe40	basic helix-loop-helix family member e40	gene	DOID:10534	stomach cancer		ISO	RGD:68659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8758411	Bhlhe40	basic helix-loop-helix family member e40	gene	DOID:3068	glioblastoma		ISO	RGD:68659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23582323
8758411	Bhlhe40	basic helix-loop-helix family member e40	gene	DOID:3312	bipolar disorder		ISO	RGD:68659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25395965
8758411	Bhlhe40	basic helix-loop-helix family member e40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758411	Bhlhe40	basic helix-loop-helix family member e40	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:68659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8758421	Tmem184a	transmembrane protein 184A	gene	DOID:10534	stomach cancer		ISO	RGD:1603256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8758421	Tmem184a	transmembrane protein 184A	gene	DOID:3275	thymoma		ISO	RGD:1603256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8758421	Tmem184a	transmembrane protein 184A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8758421	Tmem184a	transmembrane protein 184A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8758421	Tmem184a	transmembrane protein 184A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8758421	Tmem184a	transmembrane protein 184A	gene	DOID:5041	esophageal cancer		ISO	RGD:1603256	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8758421	Tmem184a	transmembrane protein 184A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758421	Tmem184a	transmembrane protein 184A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8758421	Tmem184a	transmembrane protein 184A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8758438	Pde7a	phosphodiesterase 7A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8758438	Pde7a	phosphodiesterase 7A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:28434932
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:0050852	limb ischemia		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle	PMID:17522350|REF_RGD_ID:1626332
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20526721
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:730935	D	RGD:9068941	20200609	RGD		protein:altered localization:nucleus	PMID:16080559|REF_RGD_ID:2306227
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:0060224	atrial fibrillation		ISO	RGD:730935	D	RGD:9068941	20200609	RGD		protein:increased expression:right atrium appendage, cytoplasm (human)	PMID:19211267|REF_RGD_ID:8695924
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:17085342|REF_RGD_ID:9068897
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:61928	D	RGD:9068941	20200609	RGD			PMID:17322369|REF_RGD_ID:10395372
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:10283	prostate cancer		ISO	RGD:730935	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:10591	pre-eclampsia		ISO	RGD:730935	D	RGD:9068941	20221103	RGD		protein:increased expression:chorionic villus (human)	PMID:22840297|REF_RGD_ID:155631283
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:10652	Alzheimer's disease		ISO	RGD:62221	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, microvessel (mouse)	PMID:21904637|REF_RGD_ID:9068888
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:10652	Alzheimer's disease		ISO	RGD:730935	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:cerebral cortex, microvessel (human)	PMID:16627934|REF_RGD_ID:9068875
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:1074	kidney failure		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		associated with Hypertension;protein:increased expression:kidney	PMID:15583217|REF_RGD_ID:1626324
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:10763	hypertension		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		associated with Hypercholesterolemia;protein:increased expression:aorta	PMID:11882589|REF_RGD_ID:1626330
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:10763	hypertension		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:16955051|REF_RGD_ID:1626317
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:10763	hypertension		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22349312
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:10763	hypertension		ISO	RGD:730935	D	RGD:9068941	20200609	RGD		Hypertension, Pregnancy-Induced;mRNA, protein:increased expression:placenta	PMID:15862159|REF_RGD_ID:1626322
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:10964	cholesteatoma of middle ear		ISO	RGD:730935	D	RGD:9068941	20200609	RGD		protein:increased expression:auditory canal, epidermis (human)	PMID:12838021|REF_RGD_ID:8694474
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730935	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:36115647
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:1115	sarcoma		ISO	RGD:730935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:11650	bronchopulmonary dysplasia		ISO	RGD:61928	D	RGD:9068941	20200609	RGD			PMID:26431790|REF_RGD_ID:11537057
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:11650	bronchopulmonary dysplasia	treatment	ISO	RGD:61928	D	RGD:9068941	20200609	RGD			PMID:23065129|REF_RGD_ID:10395385
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:11721	glycogen storage disease VII		ISO	RGD:62221	D	RGD:9068941	20220825	MouseDO		OMIM:232800	
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:11981	morbid obesity		ISO	RGD:730935	D	RGD:9068941	20200609	RGD		mRNA:increased expression:subcutaneous adipose tissue	PMID:16046292|REF_RGD_ID:1626320
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22271822
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:12337	varicocele		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		protein:increased expression:epididymus (rat)	PMID:25095617|REF_RGD_ID:9068459
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:12510	retinal ischemia	treatment	ISO	RGD:61928	D	RGD:9068941	20200609	RGD			PMID:23537149|REF_RGD_ID:10755711
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:13413	hepatic encephalopathy		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		associated with Hypertension, Portal	PMID:24382264|REF_RGD_ID:10395388
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:13948	bladder neck obstruction		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder (rat)	PMID:12118092|REF_RGD_ID:9068887
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:13949	interstitial cystitis		ISO	RGD:61928	D	RGD:9068941	20240829	RGD		protein:increased expression:urinary bladder:	PMID:38842512|REF_RGD_ID:407445927
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:14268	sclerosing cholangitis		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22271822
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:1682	congenital heart disease		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26073000
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:1793	pancreatic cancer		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16628086
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:2154	nephroblastoma	severity	ISO	RGD:730935	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:17937859|REF_RGD_ID:2291911
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:224	transient cerebral ischemia		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex, caudoputamen (rat)	PMID:20417628|REF_RGD_ID:9068877
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:61928	D	RGD:9068941	20221117	RGD			PMID:30258350|REF_RGD_ID:155663419
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:2316	brain ischemia		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:cerebral cortex (rat)	PMID:17101276|REF_RGD_ID:9068892
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:2316	brain ischemia		ISO	RGD:62221	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:17554006|REF_RGD_ID:1626331
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:2316	brain ischemia		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19429140
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:2316	brain ischemia	treatment	ISO	RGD:61928	D	RGD:9068941	20200609	RGD			PMID:18369388|REF_RGD_ID:9068895
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:730935	D	RGD:9068941	20200609	RGD			PMID:19014607|REF_RGD_ID:2306225
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:2746	glycogen storage disease V		ISO	RGD:62221	D	RGD:9068941	20220825	MouseDO		OMIM:232600	
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:2841	asthma	treatment	ISO	RGD:62221	D	RGD:9068941	20200609	RGD			PMID:18160846|REF_RGD_ID:10402541
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:730935	D	RGD:9068941	20200609	RGD		protein:altered localization:nucleus	PMID:16080559|REF_RGD_ID:2306227
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:3021	acute kidney failure		ISO	RGD:61928	D	RGD:9068941	20200609	RGD			PMID:15673301|REF_RGD_ID:10395376
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:3021	acute kidney failure		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		mRNA:increased expression:renal cortex (rat)	PMID:18593636|REF_RGD_ID:9068894
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:61928	D	RGD:9068941	20200609	RGD			PMID:16762988|REF_RGD_ID:10395386
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:305	carcinoma		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19808899
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:3068	glioblastoma		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12811834
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:3069	malignant astrocytoma		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15341671
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:730935	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:26752192
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:3454	brain infarction	exacerbates	ISO	RGD:61928	D	RGD:9068941	20221117	RGD			PMID:30052311|REF_RGD_ID:155663378
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:61928	D	RGD:9068941	20200609	RGD			PMID:21029239|REF_RGD_ID:9068917
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:3526	cerebral infarction	severity	ISO	RGD:730935	D	RGD:9068941	20220930	RGD		protein:increased expression:blood serum (human)	PMID:34708885|REF_RGD_ID:155260326
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:369	olfactory neuroblastoma	severity	ISO	RGD:730935	D	RGD:9068941	20200609	RGD		protein:increased expression:neuroblastoma (human)	PMID:18431543|REF_RGD_ID:8694471
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17201171
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30381462
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:730935	D	RGD:9068941	20200609	RGD			PMID:21812995|REF_RGD_ID:10395382
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:730935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:4449	macular retinal edema		ISO	RGD:730935	D	RGD:9068941	20221014	RGD		associated with central retinal vein occlusion;mRNA:increased expression:aqueous humor of eyeball (human)	PMID:35799735|REF_RGD_ID:155582223
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:730935	D	RGD:9068941	20200609	RGD			PMID:19302703|REF_RGD_ID:2306222
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:5082	liver cirrhosis		ISO	RGD:730935	D	RGD:9068941	20230518	CTD		CTD Direct Evidence: marker/mechanism	PMID:36126797
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:5241	hemangioblastoma		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15341671
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:5688	Werner syndrome	treatment	ISO	RGD:62221	D	RGD:9068941	20200609	RGD			PMID:19741171|REF_RGD_ID:10402544
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:576	proteinuria		ISO	RGD:61928	D	RGD:9068941	20230128	RGD		mRNA, protein:increased expression:brain,kidney (rat)	PMID:31784544|REF_RGD_ID:155882534
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:5844	myocardial infarction		ISO	RGD:61928	D	RGD:9068941	20200609	RGD			PMID:15247145|REF_RGD_ID:1580977
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:5844	myocardial infarction		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart left ventricle	PMID:18484163|REF_RGD_ID:5147886
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:5844	myocardial infarction	ameliorates	ISO	RGD:61928	D	RGD:9068941	20230427	RGD			PMID:28622474|REF_RGD_ID:329333030
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:730935	D	RGD:9068941	20200609	RGD		human gene in a rat model	PMID:15999059|REF_RGD_ID:9068466
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:6000	congestive heart failure		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		protein:increased expression:heart right ventricle (rat)	PMID:17582388|REF_RGD_ID:9068910
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:6000	congestive heart failure		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15732037
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:6432	pulmonary hypertension		ISO	RGD:61928	D	RGD:9068941	20200609	RGD			PMID:16215633|REF_RGD_ID:10395375
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:6432	pulmonary hypertension		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		associated with Anoxia;protein:increased expression:pulmonary artery	PMID:17213961|REF_RGD_ID:1601553
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:6432	pulmonary hypertension		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20110409
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:730935	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (human)	PMID:26078356|REF_RGD_ID:11526468
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:730935	D	RGD:9068941	20230202	RGD			PMID:31321740|REF_RGD_ID:155882550
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:61928	D	RGD:9068941	20200609	RGD			PMID:19335982|REF_RGD_ID:9068886
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:730935	D	RGD:9068941	20200609	RGD		protein:increased expression:layer of synovial tissue, stromal cell	PMID:12823854|REF_RGD_ID:10395366
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:8398	osteoarthritis		ISO	RGD:62221	D	RGD:9068941	20200609	RGD			PMID:18789153|REF_RGD_ID:10402406
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:8398	osteoarthritis		ISO	RGD:730935	D	RGD:9068941	20200609	RGD		protein:increased expression:layer of synovial tissue, stromal cell	PMID:12823854|REF_RGD_ID:10395366
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:850	lung disease		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20152896
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:8691	mycosis fungoides		ISO	RGD:730935	D	RGD:9068941	20200609	RGD		protein:increased expression:epidermis, dermis (human)	PMID:24127318|REF_RGD_ID:8695934
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:8717	decubitus ulcer		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:deep dorsal muscles (rat)	PMID:20223667|REF_RGD_ID:8694460
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:8893	psoriasis		ISO	RGD:730935	D	RGD:9068941	20200609	RGD			PMID:17495954|REF_RGD_ID:10395383
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:8893	psoriasis		ISO	RGD:730935	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:23517877|REF_RGD_ID:8695945
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:8923	skin melanoma		ISO	RGD:730935	D	RGD:9068941	20200609	RGD		protein:increased expression:epidermis (human)	PMID:19558170|REF_RGD_ID:8695922
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:8947	diabetic retinopathy		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased expression:retina (rat)	PMID:22110070|REF_RGD_ID:7364887
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:8947	diabetic retinopathy	severity	ISO	RGD:730935	D	RGD:9068941	20200609	RGD		protein:increased expression:retina, vascular endothelial cell (human)	PMID:17229797|REF_RGD_ID:8694462
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:8947	diabetic retinopathy	treatment	ISO	RGD:61928	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:20515763|REF_RGD_ID:8696025
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:21092735|REF_RGD_ID:5148013
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21092735
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9000111	Radiation Injuries	treatment	ISO	RGD:730935	D	RGD:9068941	20200609	RGD			PMID:17340073|REF_RGD_ID:8695920
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9000288	Chronic Intermittent Hypoxia		ISO	RGD:61928	D	RGD:9068941	20230817	RGD		mRNA:increased expression:kidney cortex, kidney medulla (rat)	PMID:32416216|REF_RGD_ID:401793731
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:15703702|REF_RGD_ID:1626323
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9000585	Intervertebral Disc Disease		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal root ganglion, neuron, cytoplasm (rat)	PMID:21243740|REF_RGD_ID:9068928
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9000855	Experimental Radiation Injuries		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		protein:increased expression:white matter of spinal cord (rat)	PMID:15161688|REF_RGD_ID:9068912
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9000855	Experimental Radiation Injuries		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23065176
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9000918	Disease Progression		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30381462
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9001041	Asphyxia		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:myocardium, lung (rat)	PMID:17285858|REF_RGD_ID:9068458
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9001044	Choroidal Neovascularization	treatment	ISO	RGD:61928	D	RGD:9068941	20221201	RGD			PMID:21063852|REF_RGD_ID:12859045
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9001390	Testis Reperfusion Injury		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		protein:increased expression:testes (rat)	PMID:12193413|REF_RGD_ID:632997
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9001968	Hot Flashes	susceptibility	ISO	RGD:730935	D	RGD:9068941	20200609	RGD		DNA:snp:exon:c.1744C>T (human)	PMID:18785001|REF_RGD_ID:8695942
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9002141	Anaplasia		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19808899
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:61928	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:17914354|REF_RGD_ID:10395377
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:61928	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:17967803|REF_RGD_ID:10395374
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28574600
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9002211	Hyperalgesia		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		associated with Limb Ischemia;protein:increased expression:foot muscle, plantar	PMID:18691814|REF_RGD_ID:9068903
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9002221	Hyperplasia		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20526721
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16205110
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:61928	D	RGD:9068941	20200609	RGD			PMID:21679445|REF_RGD_ID:8693318
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9002661	Diabetes Complications		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26073000
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9002909	Oxygen-Induced Retinopathy		ISO	RGD:62221	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina (mouse)	PMID:20220049|REF_RGD_ID:9068455
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9002909	Oxygen-Induced Retinopathy	ameliorates	ISO	RGD:62221	D	RGD:9068941	20230525	RGD			PMID:35445044|REF_RGD_ID:329812014
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9002909	Oxygen-Induced Retinopathy	treatment	ISO	RGD:62221	D	RGD:9068941	20200609	RGD			PMID:18087198|REF_RGD_ID:8695923
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9002910	Hearing Loss, Noise-Induced	treatment	ISO	RGD:62221	D	RGD:9068941	20200609	RGD			PMID:21787680|REF_RGD_ID:8695948
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9002928	Colonic Neoplasms	severity	ISO	RGD:730935	D	RGD:9068941	20200609	RGD			PMID:21812995|REF_RGD_ID:10395382
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9003049	Femur Head Necrosis		ISO	RGD:61928	D	RGD:9068941	20200609	RGD			PMID:26261616|REF_RGD_ID:11087286
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9003646	Arterial Thrombosis		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		protein:increased expression:plantar, foot muscle (rat)	PMID:22351094|REF_RGD_ID:8695963
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		protein:increased expression:brain (rat)	PMID:18210138|REF_RGD_ID:9068873
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:61928	D	RGD:9068941	20230128	RGD		mRNA, protein:increased expression:brain,kidney (rat)	PMID:31784544|REF_RGD_ID:155882534
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23694759
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9003676	Brain Hypoxia-Ischemia	treatment	ISO	RGD:61928	D	RGD:9068941	20200609	RGD			PMID:19595151|REF_RGD_ID:9068901
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:730935	D	RGD:9068941	20230907	CTD		CTD Direct Evidence: marker/mechanism	PMID:36162953
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9003936	Cardiomegaly		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15942707
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9003936	Cardiomegaly		ISO	RGDID:2074	D	RGD:9068941	20230810	RGD			PMID:12665660|REF_RGD_ID:401784499
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9004009	Reperfusion Injury	treatment	ISO	RGD:61928	D	RGD:9068941	20200609	RGD		Limb Reperfusion Injury	PMID:23816242|REF_RGD_ID:9068927
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9004009	Reperfusion Injury	treatment	ISO	RGD:61928	D	RGD:9068941	20200609	RGD		Spinal Cord Reperfusion Injury	PMID:16465055|REF_RGD_ID:9068924
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9004240	Phyllodes Tumor	severity	ISO	RGD:730935	D	RGD:9068941	20200609	RGD		protein:increased expression:breast (human)	PMID:16168127|REF_RGD_ID:8694472
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276359
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19808899
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12811834|PMID:29501572
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9004643	Urologic Neoplasms	disease_progression	ISO	RGD:730935	D	RGD:9068941	20200609	RGD		protein:increased expression:renal/urinary system	PMID:18304212|REF_RGD_ID:2306226
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9004713	Acute-Phase Reaction		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver	PMID:19840250|REF_RGD_ID:10395370
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9004914	Postmenopausal Osteoporosis		ISO	RGD:62221	D	RGD:9068941	20200609	RGD			PMID:18067744|REF_RGD_ID:10402540
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9004914	Postmenopausal Osteoporosis	treatment	ISO	RGD:61928	D	RGD:9068941	20200609	RGD			PMID:24023068|REF_RGD_ID:10402191
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9005175	Ulcer		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		protein:increased expression:esophagus (rat)	PMID:12368217|REF_RGD_ID:632996
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:61928	D	RGD:9068941	20200609	RGD			PMID:17280655|REF_RGD_ID:2293194
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9005600	Infarction		ISO	RGD:61928	D	RGD:9068941	20200609	RGD			PMID:12911537|REF_RGD_ID:10395384
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		protein:increased expression:sciatic nerve (rat)	PMID:15663958|REF_RGD_ID:8694461
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9006086	Intervertebral Disc Displacement	severity	ISO	RGD:730935	D	RGD:9068941	20240912	RGD			PMID:33455530|REF_RGD_ID:407532702
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9006223	Kidney Reperfusion Injury	severity	ISO	RGD:61928	D	RGD:9068941	20200609	RGD			PMID:22432008|REF_RGD_ID:9068883
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:61928	D	RGD:9068941	20200609	RGD			PMID:17519789|REF_RGD_ID:1626334
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9006281	Temporomandibular Joint Disorders		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		protein:increased expression:temporomandibular joint, cartilage	PMID:20171183|REF_RGD_ID:10402539
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:61928	D	RGD:9068941	20200609	RGD			PMID:23603807|REF_RGD_ID:10395381
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23065176
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:myocardium (rat)	PMID:17335664|REF_RGD_ID:9068465
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:61928	D	RGD:9068941	20230826	RGD		associated with diesel exhaust particulates exposure; protein:decreased expression:heart left ventricle (rat)	PMID:23887904|REF_RGD_ID:401794424
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29501572
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9007730	Burns		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		protein:increased expression:Peyer's patches (rat)	PMID:19439119|REF_RGD_ID:9068477
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9007748	Retinal Neovascularization	treatment	ISO	RGD:62221	D	RGD:9068941	20200609	RGD			PMID:21414312|REF_RGD_ID:8695956
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:12189448|REF_RGD_ID:1626327
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		protein:increased expression:myocardium	PMID:19727523|REF_RGD_ID:5147885
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18549825|PMID:22050707
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:61928	D	RGD:9068941	20200609	RGD			PMID:20170615|REF_RGD_ID:9068872
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9007970	Chronic Cerebral Hypoperfusion		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus	PMID:24072673|REF_RGD_ID:10402542
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9008023	Memory Disorders	treatment	ISO	RGD:62221	D	RGD:9068941	20200609	RGD			PMID:22547371|REF_RGD_ID:10402407
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9008138	Ductal Carcinoma		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20526721
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9008212	Diabetic Foot		ISO	RGD:730935	D	RGD:9068941	20220930	RGD		mRNA,protein:decreased expression:blood serum, foot (human)	PMID:34293021|REF_RGD_ID:155260332
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24349381
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730935	D	RGD:9068941	20200609	RGD			PMID:19064988|REF_RGD_ID:2306224
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:730935	D	RGD:9068941	20200609	RGD			PMID:17245699|REF_RGD_ID:2293195
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9256	colorectal cancer	ameliorates	ISO	RGD:730935	D	RGD:9068941	20220421	RGD		human cells in mouse model	PMID:30789971|REF_RGD_ID:151893289
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:61928	D	RGD:9068941	20200609	RGD			PMID:17914354|REF_RGD_ID:10395377
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:61928	D	RGD:9068941	20200609	RGD		protein:increased expression:heart blood vessel	PMID:12234789|REF_RGD_ID:625730
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730935	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;protein:increased expression:serum (human)	PMID:23244125|REF_RGD_ID:8695972
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:730935	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.P582S (human)	PMID:16046581|REF_RGD_ID:8695936
8758464	Hif1a	hypoxia inducible factor 1 subunit alpha	gene	DOID:9970	obesity		ISO	RGD:730935	D	RGD:9068941	20230202	RGD		associated with hepatocellular carcinoma;RNA:decreased expression:liver:	PMID:31321740|REF_RGD_ID:155882550
8758501	Tmem205	transmembrane protein 205	gene	DOID:1909	melanoma		ISO	RGD:1605798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8758501	Tmem205	transmembrane protein 205	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8758501	Tmem205	transmembrane protein 205	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8758501	Tmem205	transmembrane protein 205	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:0060290	Ohdo syndrome, SBBYS variant		ISO	RGD:1350438	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome	PMID:25741868
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:0080833	laryngomalacia		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:0111456	Kaufman oculocerebrofacial syndrome		ISO	RGD:1350438	D	RGD:7240710	20180130	OMIM			
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:0111456	Kaufman oculocerebrofacial syndrome		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: KAUFMAN OCULOCEREBROFACIAL SYNDROME | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type | ClinVar Annotator: match by term: UBE3B-related condition	PMID:17576681|PMID:23200864|PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:32249816|PMID:37938362|PMID:38177409|PMID:9536098
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:10348	blepharophimosis		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:1059	intellectual disability		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:10629	microphthalmia		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:10907	microcephaly		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:10908	hydrocephalus		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hydrocephalus	PMID:25741868
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:10944	tongue disease		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microglossia	PMID:25741868
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:1115	sarcoma		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:12270	coloboma		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:25741868
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:12959	lagophthalmos		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Lagophthalmos	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:1324	lung cancer		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:1757	facial hemiatrophy		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hemiatrophy	PMID:25741868
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:1826	epilepsy		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:1909	melanoma		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:3275	thymoma		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:5041	esophageal cancer		ISO	RGD:1350438	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:630	genetic disease		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:83	cataract		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:8488	polyhydramnios		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:25741868
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9003133	Hypertelorism		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9005616	Micrognathism		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9007661	Dwarfism		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9008189	Pyelectasis		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:25741868
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8758521	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8758570	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8758570	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:10534	stomach cancer		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8758570	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8758570	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:1115	sarcoma		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8758570	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:1324	lung cancer		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8758570	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8758570	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:3275	thymoma		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8758570	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:4362	cervical cancer		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8758570	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:440	neuromuscular disease		ISO	RGD:1604350	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
8758570	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8758570	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:5041	esophageal cancer		ISO	RGD:1604350	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8758570	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758570	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8758570	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8758570	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8758570	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8758570	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8758608	Zbed1	zinc finger BED-type containing 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1348579	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:0050452	mevalonic aciduria		ISO	RGD:731579	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12477733
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:0051061	stroke		ISO	RGD:2803	D	RGD:9068941	20200609	RGD			PMID:16316970|REF_RGD_ID:5508472
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:0051061	stroke		ISO	RGD:731579	D	RGD:9068941	20200609	RGD			PMID:16316970|REF_RGD_ID:5508472
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:0061130	autosomal recessive limb-girdle muscular dystrophy type 28		ISO	RGD:731579	D	RGD:7240710	20230719	OMIM			
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:0061130	autosomal recessive limb-girdle muscular dystrophy type 28		ISO	RGD:731579	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 28	PMID:25741868|PMID:37167966|PMID:38903061
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	ISO	RGD:2803	D	RGD:9068941	20250710	RGD			PMID:24814604|REF_RGD_ID:617183686
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:0080000	muscular disease		ISO	RGD:731579	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23953224
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:0080000	muscular disease		ISO	RGD:731579	D	RGD:9068941	20200609	RGD			PMID:21360500|REF_RGD_ID:5508448
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:2803	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:19913842|REF_RGD_ID:5508690
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	disease_progression	ISO	RGD:2803	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:23117815|REF_RGD_ID:15045604
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:10534	stomach cancer		ISO	RGD:731579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731579	D	RGD:9068941	20200609	RGD			PMID:17724290|REF_RGD_ID:5508460
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:10787	premature menopause		ISO	RGD:2803	D	RGD:9068941	20240525	RGD		mRNA:decreased expression:liver (rat)	PMID:24619822|REF_RGD_ID:19165129
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:731579	D	RGD:9068941	20231109	RGD		DNA:SNP:CDS:mutiple (human)	PMID:35642741|REF_RGD_ID:401854249
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:11100	Q fever		ISO	RGD:731579	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16469060
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:1115	sarcoma		ISO	RGD:731579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:11981	morbid obesity	treatment	ISO	RGD:731579	D	RGD:9068941	20250717	RGD			PMID:27051590|REF_RGD_ID:617212663
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:12858	Huntington's disease		ISO	RGD:731580	D	RGD:9068941	20200609	RGD			PMID:17702587|REF_RGD_ID:5508462
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:1307	dementia		ISO	RGD:731579	D	RGD:9068941	20200609	RGD			PMID:17640385|REF_RGD_ID:5508465
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:13141	uveitis		ISO	RGD:731580	D	RGD:9068941	20200609	RGD			PMID:15699169|REF_RGD_ID:5508475
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:1324	lung cancer		ISO	RGD:731579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:14330	Parkinson's disease		ISO	RGD:731579	D	RGD:9068941	20200609	RGD			PMID:18184918|REF_RGD_ID:5508459
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:1909	melanoma		ISO	RGD:731579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:2044	drug-induced hepatitis		ISO	RGD:2803	D	RGD:9068941	20200609	RGD			PMID:16140414|REF_RGD_ID:2316848
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:2841	asthma		ISO	RGD:731579	D	RGD:9068941	20200609	RGD			PMID:20084838|REF_RGD_ID:5508450
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:731579	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:25741868
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:3021	acute kidney failure		ISO	RGD:731580	D	RGD:9068941	20200609	RGD		associated with Sepsis	PMID:16557230|REF_RGD_ID:5508471
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:3393	coronary artery disease		ISO	RGD:731579	D	RGD:9068941	20200609	RGD			PMID:12742282|REF_RGD_ID:5508477
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:731579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:417	autoimmune disease		ISO	RGD:731579	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23953224
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:4362	cervical cancer		ISO	RGD:731579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:5041	esophageal cancer		ISO	RGD:731579	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:630	genetic disease		ISO	RGD:731579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:37167966
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:731579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:6432	pulmonary hypertension		ISO	RGD:2803	D	RGD:9068941	20200609	RGD			PMID:12750068|REF_RGD_ID:5508701
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731579	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21147110|PMID:9207284
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:783	end stage renal disease		ISO	RGD:2803	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:21119529|REF_RGD_ID:5508686
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:783	end stage renal disease		ISO	RGD:2803	D	RGD:9068941	20230914	RGD		protein:decreased expression:kidney (rat)	PMID:19878707|REF_RGD_ID:2326081
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:783	end stage renal disease		ISO	RGD:731579	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19878707
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:784	chronic kidney disease		ISO	RGD:2803	D	RGD:9068941	20210514	RGD		mRNA, protein:increased expression:liver	PMID:12841361|REF_RGD_ID:1300058
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:8805	intermediate coronary syndrome		ISO	RGD:731579	D	RGD:9068941	20200609	RGD			PMID:18333374|REF_RGD_ID:5508458
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:893	Wilson disease		ISO	RGD:2803	D	RGD:9068941	20200609	RGD			PMID:17303181|REF_RGD_ID:2292672
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9000528	Coronary Disease	disease_progression	ISO	RGD:731579	D	RGD:9068941	20200609	RGD			PMID:15809366|REF_RGD_ID:5508474
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:2803	D	RGD:9068941	20200609	RGD			PMID:17250646|REF_RGD_ID:5508696
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:2803	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:24619822|REF_RGD_ID:19165129
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:731579	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8593127
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:731579	D	RGD:9068941	20200609	RGD			PMID:1611649|REF_RGD_ID:5508480
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:731580	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:25168180|REF_RGD_ID:13782271
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9000998	Brain Injuries		ISO	RGD:2803	D	RGD:9068941	20200609	RGD			PMID:18562561|REF_RGD_ID:5508455
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731579	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:731580	D	RGD:9068941	20200609	RGD			PMID:17119970|REF_RGD_ID:5508468
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:2803	D	RGD:9068941	20200609	RGD			PMID:14691063|REF_RGD_ID:5508476
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:731580	D	RGD:9068941	20200609	RGD			PMID:17085013|REF_RGD_ID:5508469
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2803	D	RGD:9068941	20200609	RGD			PMID:21724106|REF_RGD_ID:5508445
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2803	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:18398369|REF_RGD_ID:2315888
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:731580	D	RGD:9068941	20200609	RGD			PMID:16009498|REF_RGD_ID:5508473
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:731580	D	RGD:9068941	20200609	RGD			PMID:16922808|REF_RGD_ID:5508470
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9005036	Bacteremia	severity	ISO	RGD:731579	D	RGD:9068941	20200609	RGD			PMID:11565076|REF_RGD_ID:5508478
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:731579	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12477733
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2803	D	RGD:9068941	20200609	RGD			PMID:15111316|REF_RGD_ID:2313760
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9006113	Gallstones		ISO	RGD:731579	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7461467
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:2803	D	RGD:9068941	20200609	RGD			PMID:19461650|REF_RGD_ID:5508692
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:2803	D	RGD:9068941	20230914	RGD			PMID:27821167|REF_RGD_ID:401799622
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:731580	D	RGD:9068941	20231026	RGD			PMID:31353547|REF_RGD_ID:401850595
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9006647	Experimental Autoimmune Neuritis	disease_progression	ISO	RGD:2803	D	RGD:9068941	20200609	RGD			PMID:17286627|REF_RGD_ID:5508466
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9009046	Surgical Wound Dehiscence		ISO	RGD:2803	D	RGD:9068941	20200609	RGD			PMID:19578821|REF_RGD_ID:5508683
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9351	diabetes mellitus		ISO	RGD:731579	D	RGD:9068941	20200609	RGD			PMID:15476492|REF_RGD_ID:2313755
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2803	D	RGD:9068941	20200609	RGD			PMID:15312879|REF_RGD_ID:2313759
8758614	Hmgcr	3-hydroxy-3-methylglutaryl-CoA reductase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731579	D	RGD:9068941	20200609	RGD		DNA:polymorphism (human)	PMID:17870053|REF_RGD_ID:2313753
8758640	Sec22c	SEC22 homolog C, vesicle trafficking protein	gene	DOID:10534	stomach cancer		ISO	RGD:1607079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8758640	Sec22c	SEC22 homolog C, vesicle trafficking protein	gene	DOID:1115	sarcoma		ISO	RGD:1607079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8758640	Sec22c	SEC22 homolog C, vesicle trafficking protein	gene	DOID:1909	melanoma		ISO	RGD:1607079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8758640	Sec22c	SEC22 homolog C, vesicle trafficking protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8758640	Sec22c	SEC22 homolog C, vesicle trafficking protein	gene	DOID:3275	thymoma		ISO	RGD:1607079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8758640	Sec22c	SEC22 homolog C, vesicle trafficking protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1607079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8758640	Sec22c	SEC22 homolog C, vesicle trafficking protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8758640	Sec22c	SEC22 homolog C, vesicle trafficking protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8758661	Cdh19	cadherin 19	gene	DOID:10534	stomach cancer		ISO	RGD:1316200	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8758661	Cdh19	cadherin 19	gene	DOID:1909	melanoma		ISO	RGD:1316200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8758661	Cdh19	cadherin 19	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8758661	Cdh19	cadherin 19	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8758661	Cdh19	cadherin 19	gene	DOID:6039	uveal melanoma		ISO	RGD:1316200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8758661	Cdh19	cadherin 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8758678	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:0050332	enlarged vestibular aqueduct		ISO	RGD:1321628	D	RGD:9068941	20220825	MouseDO		OMIM:600791	
8758678	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8758678	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:0050439	Usher syndrome		ISO	RGD:1321627	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Usher syndrome	PMID:30311386
8758678	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1321628	D	RGD:9068941	20220825	MouseDO		OMIM:607197	
8758678	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:10907	microcephaly		ISO	RGD:1321627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:18368028|PMID:25741868|PMID:28492532|PMID:9916796
8758678	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:14219	renal tubular acidosis		ISO	RGD:1321627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal tubular acidosis	PMID:18368028|PMID:25741868|PMID:28492532|PMID:28844315|PMID:9916796
8758678	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:14219	renal tubular acidosis	susceptibility	ISO	RGD:1321627	D	RGD:9068941	20200609	RGD		DNA:mutation;associated with Hearing Loss, Sensorineural	PMID:9916796|REF_RGD_ID:1599372
8758678	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:4362	cervical cancer		ISO	RGD:1321627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8758678	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758678	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:630	genetic disease		ISO	RGD:1321627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:40794449
8758678	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:9000683	Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness		ISO	RGD:1321627	D	RGD:7240710	20190315	OMIM			
8758678	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:9000683	Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness		ISO	RGD:1321627	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ATP6V1B1-related condition | ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PROGRESSIVE NERVE DEAFNESS | ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness	PMID:12414817|PMID:12566520|PMID:12579397|PMID:16199547|PMID:16433694|PMID:16611712|PMID:16769747|PMID:17216496|PMID:17576681|PMID:17669226|PMID:18368028|PMID:18798332|PMID:19364879|PMID:19478356|PMID:19639346|PMID:20805693|PMID:21614596|PMID:22509993|PMID:22966473|PMID:23923981|PMID:24033266|PMID:24252324|PMID:24975934|PMID:25164082|PMID:25285676|PMID:25498251|PMID:25741868|PMID:26467025|PMID:26571219|PMID:26920127|PMID:27247958|PMID:27535533|PMID:27767102|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28893421|PMID:29627839|PMID:29725771|PMID:30076350|PMID:30311386|PMID:30558562|PMID:30586318|PMID:30773598|PMID:31328266|PMID:31589614|PMID:31618753|PMID:31672324|PMID:31733597|PMID:31949730|PMID:31959358|PMID:33226606|PMID:33615106|PMID:34157794|PMID:34159584|PMID:34805638|PMID:35006361|PMID:35052694|PMID:35301649|PMID:35325889|PMID:35738466|PMID:35990030|PMID:36177613|PMID:36964972|PMID:37121229|PMID:38547852|PMID:39837581|PMID:39837851|PMID:40794449|PMID:8651253|PMID:9536098|PMID:9916796
8758678	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1321627	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:16769747|PMID:18368028|PMID:24033266|PMID:25741868|PMID:30311386|PMID:9916796
8758678	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1321627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532|PMID:30311386
8758678	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8758715	Gpatch4	G-patch domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1606544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8758715	Gpatch4	G-patch domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1606544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8758715	Gpatch4	G-patch domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1606544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8758715	Gpatch4	G-patch domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758715	Gpatch4	G-patch domain containing 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8758715	Gpatch4	G-patch domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL	
8758715	Gpatch4	G-patch domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606544	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8758787	Arhgef25	Rho guanine nucleotide exchange factor 25	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8758787	Arhgef25	Rho guanine nucleotide exchange factor 25	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8758787	Arhgef25	Rho guanine nucleotide exchange factor 25	gene	DOID:10283	prostate cancer		ISO	RGD:1601833	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8758787	Arhgef25	Rho guanine nucleotide exchange factor 25	gene	DOID:10283	prostate cancer		ISO	RGD:1601833	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8758787	Arhgef25	Rho guanine nucleotide exchange factor 25	gene	DOID:10534	stomach cancer		ISO	RGD:1601833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8758787	Arhgef25	Rho guanine nucleotide exchange factor 25	gene	DOID:1115	sarcoma		ISO	RGD:1601833	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8758787	Arhgef25	Rho guanine nucleotide exchange factor 25	gene	DOID:1324	lung cancer		ISO	RGD:1601833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8758787	Arhgef25	Rho guanine nucleotide exchange factor 25	gene	DOID:1909	melanoma		ISO	RGD:1601833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8758787	Arhgef25	Rho guanine nucleotide exchange factor 25	gene	DOID:3070	high grade glioma		ISO	RGD:1601833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8758787	Arhgef25	Rho guanine nucleotide exchange factor 25	gene	DOID:4362	cervical cancer		ISO	RGD:1601833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8758787	Arhgef25	Rho guanine nucleotide exchange factor 25	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8758787	Arhgef25	Rho guanine nucleotide exchange factor 25	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8758787	Arhgef25	Rho guanine nucleotide exchange factor 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758787	Arhgef25	Rho guanine nucleotide exchange factor 25	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8758787	Arhgef25	Rho guanine nucleotide exchange factor 25	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8758810	Nell1	neural EGFL like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8758810	Nell1	neural EGFL like 1	gene	DOID:10283	prostate cancer		ISO	RGD:733264	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8758810	Nell1	neural EGFL like 1	gene	DOID:10283	prostate cancer		ISO	RGD:733264	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8758810	Nell1	neural EGFL like 1	gene	DOID:10534	stomach cancer		ISO	RGD:733264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8758810	Nell1	neural EGFL like 1	gene	DOID:2340	craniosynostosis		ISO	RGD:620998	D	RGD:9068941	20200609	RGD			PMID:12235118|REF_RGD_ID:633405
8758810	Nell1	neural EGFL like 1	gene	DOID:2340	craniosynostosis		ISO	RGD:733264	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14672347
8758810	Nell1	neural EGFL like 1	gene	DOID:3070	high grade glioma		ISO	RGD:733264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8758810	Nell1	neural EGFL like 1	gene	DOID:4362	cervical cancer		ISO	RGD:733264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8758810	Nell1	neural EGFL like 1	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:733264	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17452981
8758810	Nell1	neural EGFL like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8758810	Nell1	neural EGFL like 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8758810	Nell1	neural EGFL like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758854	Psme1	proteasome activator subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:733032	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8758854	Psme1	proteasome activator subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8758854	Psme1	proteasome activator subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:733032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8758854	Psme1	proteasome activator subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:733032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8758854	Psme1	proteasome activator subunit 1	gene	DOID:1470	major depressive disorder		ISO	RGD:733032	D	RGD:9068941	20260305	RGD		mRNA:decreased expression:blood	PMID:25226551|REF_RGD_ID:634888054
8758854	Psme1	proteasome activator subunit 1	gene	DOID:305	carcinoma		ISO	RGD:733032	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8758854	Psme1	proteasome activator subunit 1	gene	DOID:3070	high grade glioma		ISO	RGD:733032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8758854	Psme1	proteasome activator subunit 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:733032	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
8758854	Psme1	proteasome activator subunit 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:733032	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8758854	Psme1	proteasome activator subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758854	Psme1	proteasome activator subunit 1	gene	DOID:6039	uveal melanoma		ISO	RGD:733032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8758854	Psme1	proteasome activator subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733032	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8758854	Psme1	proteasome activator subunit 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:733032	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8758854	Psme1	proteasome activator subunit 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:733032	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8758854	Psme1	proteasome activator subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8758854	Psme1	proteasome activator subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8758883	Drd2	dopamine receptor D2	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:2520	D	RGD:9068941	20240201	RGD		DNA:Hypermethylation:promoter	PMID:26509893|REF_RGD_ID:11344152
8758883	Drd2	dopamine receptor D2	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:2520	D	RGD:9068941	20240201	RGD		mRNA:decreased expression: pituitary gland (rat)	PMID:28710248|REF_RGD_ID:401960105
8758883	Drd2	dopamine receptor D2	gene	DOID:0050741	alcohol dependence		ISO	RGD:2520	D	RGD:9068941	20250501	RGD			PMID:29205397|REF_RGD_ID:598150312
8758883	Drd2	dopamine receptor D2	gene	DOID:0050741	alcohol dependence	onset	ISO	RGD:736796	D	RGD:9068941	20240118	RGD		DNA:insertion, deletion:promoter:	PMID:23238469|REF_RGD_ID:401959213
8758883	Drd2	dopamine receptor D2	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:736796	D	RGD:9068941	20240118	RGD		DNA:SNP: :rs1800498(human)	PMID:36825486|REF_RGD_ID:401959301
8758883	Drd2	dopamine receptor D2	gene	DOID:0050742	nicotine dependence		ISO	RGD:736796	D	RGD:9068941	20200609	RGD		DNA:polymorphisms, haplotype:enhancer, promoter, intron:multiple	PMID:17108814|REF_RGD_ID:1600904
8758883	Drd2	dopamine receptor D2	gene	DOID:0050742	nicotine dependence		ISO	RGD:736796	D	RGD:9068941	20241107	CTD		CTD Direct Evidence: marker/mechanism	PMID:18579413
8758883	Drd2	dopamine receptor D2	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:736796	D	RGD:9068941	20240120	RGD		DNA:SNP, haplotype:exon:rs6277 (957C>T)(human)	PMID:22382052|REF_RGD_ID:401959315
8758883	Drd2	dopamine receptor D2	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:736796	D	RGD:9068941	20240125	RGD		DNA:SNPs, insertion/deletion:exon,introns, promoter:multiple	PMID:17085484|REF_RGD_ID:401959319
8758883	Drd2	dopamine receptor D2	gene	DOID:0050742	nicotine dependence	treatment	ISO	RGD:736796	D	RGD:9068941	20231123	RGD		DNA:polymorphisms: :(human)	PMID:17654295|REF_RGD_ID:11096878
8758883	Drd2	dopamine receptor D2	gene	DOID:0060001	withdrawal disorder		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17189962
8758883	Drd2	dopamine receptor D2	gene	DOID:0080855	Parkinsonism		ISO	RGD:2520	D	RGD:9068941	20200609	RGD			PMID:22126770|REF_RGD_ID:6907448
8758883	Drd2	dopamine receptor D2	gene	DOID:0080855	Parkinsonism		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:12476322|PMID:15469457|PMID:9171869
8758883	Drd2	dopamine receptor D2	gene	DOID:0081292	traumatic brain injury	treatment	ISO	RGD:2520	D	RGD:9068941	20200609	RGD			PMID:24047867|REF_RGD_ID:13506948
8758883	Drd2	dopamine receptor D2	gene	DOID:10024	migraine with aura		ISO	RGD:736796	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.H313H (human)	PMID:9513185|REF_RGD_ID:1358603
8758883	Drd2	dopamine receptor D2	gene	DOID:1059	intellectual disability		ISO	RGD:736796	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	
8758883	Drd2	dopamine receptor D2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736796	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood, lymphocyte	PMID:11087905|REF_RGD_ID:5686416
8758883	Drd2	dopamine receptor D2	gene	DOID:10763	hypertension		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11566895
8758883	Drd2	dopamine receptor D2	gene	DOID:10763	hypertension		ISO	RGD:736796	D	RGD:9068941	20200609	RGD			PMID:11494094|REF_RGD_ID:1580874
8758883	Drd2	dopamine receptor D2	gene	DOID:10763	hypertension		ISO	RGD:736796	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:15939106|REF_RGD_ID:1600905
8758883	Drd2	dopamine receptor D2	gene	DOID:10937	impulse control disorder		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17332411|PMID:19940168|PMID:20671181
8758883	Drd2	dopamine receptor D2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17671965
8758883	Drd2	dopamine receptor D2	gene	DOID:11119	Gilles de la Tourette syndrome		ISO	RGD:2520	D	RGD:9068941	20200609	RGD		mRNA:increased expression:striatum (rat)	PMID:19467315|REF_RGD_ID:2311576
8758883	Drd2	dopamine receptor D2	gene	DOID:11119	Gilles de la Tourette syndrome	treatment	ISO	RGD:2520	D	RGD:9068941	20200609	RGD			PMID:22876458|REF_RGD_ID:6907444
8758883	Drd2	dopamine receptor D2	gene	DOID:11832	visual epilepsy		ISO	RGD:736796	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:11860278|PMID:1829682|PMID:7936204
8758883	Drd2	dopamine receptor D2	gene	DOID:12700	hyperprolactinemia		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15286066|PMID:19339912
8758883	Drd2	dopamine receptor D2	gene	DOID:12700	hyperprolactinemia	treatment	ISO	RGD:2520	D	RGD:9068941	20200609	RGD			PMID:26297122|REF_RGD_ID:13506955
8758883	Drd2	dopamine receptor D2	gene	DOID:12858	Huntington's disease		ISO	RGD:10486	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebral cortex (mouse)	PMID:16905556|REF_RGD_ID:7248682
8758883	Drd2	dopamine receptor D2	gene	DOID:12858	Huntington's disease		ISO	RGD:68472	D	RGD:9068941	20200609	RGD			PMID:12111832|REF_RGD_ID:5686414
8758883	Drd2	dopamine receptor D2	gene	DOID:1307	dementia		ISO	RGD:2520	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:striatum (rat)	PMID:19500946|REF_RGD_ID:2311554
8758883	Drd2	dopamine receptor D2	gene	DOID:1324	lung cancer		ISO	RGD:736796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
8758883	Drd2	dopamine receptor D2	gene	DOID:14330	Parkinson's disease		ISO	RGD:10486	D	RGD:9068941	20220825	MouseDO		OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251	
8758883	Drd2	dopamine receptor D2	gene	DOID:14330	Parkinson's disease		ISO	RGD:2520	D	RGD:9068941	20200609	RGD		protein:increased expression:striatum (rat)	PMID:18289173|REF_RGD_ID:2311585
8758883	Drd2	dopamine receptor D2	gene	DOID:14330	Parkinson's disease		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:8558425
8758883	Drd2	dopamine receptor D2	gene	DOID:1561	cognitive disorder		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19910723
8758883	Drd2	dopamine receptor D2	gene	DOID:1596	depressive disorder		ISO	RGD:2520	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:striatum	PMID:21596067|REF_RGD_ID:6907449
8758883	Drd2	dopamine receptor D2	gene	DOID:1596	depressive disorder		ISO	RGD:736796	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.H313H (human)	PMID:9513185|REF_RGD_ID:1358603
8758883	Drd2	dopamine receptor D2	gene	DOID:1742	drug psychosis		ISO	RGD:2520	D	RGD:9068941	20200609	RGD			PMID:26174132|REF_RGD_ID:11534754
8758883	Drd2	dopamine receptor D2	gene	DOID:2030	anxiety disorder		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18305461|PMID:20532872
8758883	Drd2	dopamine receptor D2	gene	DOID:2030	anxiety disorder		ISO	RGD:736796	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.H313H (human)	PMID:9513185|REF_RGD_ID:1358603
8758883	Drd2	dopamine receptor D2	gene	DOID:2316	brain ischemia		ISO	RGD:2520	D	RGD:9068941	20200609	RGD			PMID:11474153|REF_RGD_ID:1580883
8758883	Drd2	dopamine receptor D2	gene	DOID:251	alcohol-induced mental disorder		ISO	RGD:736796	D	RGD:9068941	20240125	RGD		DNA:SNP:cds:957C>T(human)	PMID:18669994|REF_RGD_ID:401959336
8758883	Drd2	dopamine receptor D2	gene	DOID:2559	opiate dependence	susceptibility	ISO	RGD:736796	D	RGD:9068941	20240118	RGD		DNA:SNP,haplotype: :rs1076560,rs6275(human)	PMID:19373123|REF_RGD_ID:401959309
8758883	Drd2	dopamine receptor D2	gene	DOID:2559	opiate dependence	treatment	ISO	RGD:736796	D	RGD:9068941	20240118	RGD		DNA:SNP: :rs6275(human)	PMID:19373123|REF_RGD_ID:401959309
8758883	Drd2	dopamine receptor D2	gene	DOID:2560	morphine dependence		ISO	RGD:2520	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus (rat)	PMID:18276072|REF_RGD_ID:2311587
8758883	Drd2	dopamine receptor D2	gene	DOID:303	substance-related disorder		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16901644
8758883	Drd2	dopamine receptor D2	gene	DOID:3602	toxic encephalopathy		ISO	RGD:2520	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hippocampus (rat)	PMID:19576243|REF_RGD_ID:2311553
8758883	Drd2	dopamine receptor D2	gene	DOID:446	primary hyperaldosteronism		ISO	RGD:10486	D	RGD:9068941	20220825	MouseDO		OMIM:605635 | OMIM:613677	
8758883	Drd2	dopamine receptor D2	gene	DOID:480	movement disease		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:6858777
8758883	Drd2	dopamine receptor D2	gene	DOID:480	movement disease		ISO	RGD:736796	D	RGD:9068941	20200609	RGD		myoclonus dystonia, OMIM:159900, V154I	PMID:10220438|REF_RGD_ID:1600903
8758883	Drd2	dopamine receptor D2	gene	DOID:5419	schizophrenia		ISO	RGD:736796	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:10831489|PMID:11245917|PMID:18583979|PMID:21187413
8758883	Drd2	dopamine receptor D2	gene	DOID:5419	schizophrenia		ISO	RGD:736796	D	RGD:9068941	20260521	RGD		protein:decreased homodimerization:temporal cortex:	PMID:20067857|REF_RGD_ID:9835359
8758883	Drd2	dopamine receptor D2	gene	DOID:5419	schizophrenia		ISO	RGD:736796	D	RGD:9068941	20260521	RGD		protein:increase homodimerization:striatum	PMID:20813060|REF_RGD_ID:6907450
8758883	Drd2	dopamine receptor D2	gene	DOID:5425	ovarian hyperstimulation syndrome	treatment	ISO	RGD:2520	D	RGD:9068941	20200609	RGD			PMID:25217874|REF_RGD_ID:13506956
8758883	Drd2	dopamine receptor D2	gene	DOID:543	dystonia		ISO	RGD:736796	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder	PMID:10208638|PMID:10220438|PMID:11215567|PMID:17576681|PMID:22438980|PMID:25711927|PMID:25741868|PMID:28119185|PMID:28492532|PMID:8824240|PMID:9536098
8758883	Drd2	dopamine receptor D2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758883	Drd2	dopamine receptor D2	gene	DOID:670	amphetamine abuse		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18363855|PMID:18555060|PMID:19940168
8758883	Drd2	dopamine receptor D2	gene	DOID:679	basal ganglia disease		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11198054|PMID:12211096|PMID:18480698|PMID:19225277|PMID:19506579
8758883	Drd2	dopamine receptor D2	gene	DOID:783	end stage renal disease		ISO	RGD:736796	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin Dependent; DNA:polymorphisms:5'utr, intron: -141delC, G>A (human)	PMID:18366720|REF_RGD_ID:2311602
8758883	Drd2	dopamine receptor D2	gene	DOID:9000499	Alcoholic Intoxication	treatment	ISO	RGD:2520	D	RGD:9068941	20200609	RGD			PMID:28300818|REF_RGD_ID:13506954
8758883	Drd2	dopamine receptor D2	gene	DOID:9000641	Pain		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15996639
8758883	Drd2	dopamine receptor D2	gene	DOID:9000998	Brain Injuries		ISO	RGD:2520	D	RGD:9068941	20200609	RGD			PMID:18509630|REF_RGD_ID:2311580
8758883	Drd2	dopamine receptor D2	gene	DOID:9001131	stress-related disorder	sexual_dimorphism	ISO	RGD:2520	D	RGD:9068941	20240222	RGD		mRNA:decreased expression:nucleus accumbens (rat)	PMID:23579081|REF_RGD_ID:401976414
8758883	Drd2	dopamine receptor D2	gene	DOID:9002234	Pituitary Neoplasms		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12727942
8758883	Drd2	dopamine receptor D2	gene	DOID:9002362	Hyperkinesis		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1975278|PMID:24418703
8758883	Drd2	dopamine receptor D2	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2520	D	RGD:9068941	20200609	RGD		mRNA:increased expression:corpus striatum (rat)	PMID:23762129|REF_RGD_ID:7248592
8758883	Drd2	dopamine receptor D2	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:2520	D	RGD:9068941	20200609	RGD			PMID:23762129|REF_RGD_ID:7248592
8758883	Drd2	dopamine receptor D2	gene	DOID:9002554	Tachycardia		ISO	RGD:2520	D	RGD:9068941	20200609	RGD			PMID:8287413|REF_RGD_ID:1580884
8758883	Drd2	dopamine receptor D2	gene	DOID:9002554	Tachycardia		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10721819|PMID:9777039
8758883	Drd2	dopamine receptor D2	gene	DOID:9003805	Catalepsy		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1365866|PMID:3283778|PMID:7845605|PMID:9618422
8758883	Drd2	dopamine receptor D2	gene	DOID:9004120	Alcohol Withdrawal Seizures	susceptibility	ISO	RGD:736796	D	RGD:9068941	20240118	RGD		DNA:SNP:exon:A>G(human)	PMID:23238469|REF_RGD_ID:401959213
8758883	Drd2	dopamine receptor D2	gene	DOID:9004657	Weight Gain		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20375926
8758883	Drd2	dopamine receptor D2	gene	DOID:9005466	Language Development Disorders		ISO	RGD:736796	D	RGD:9068941	20240125	RGD		DNA:SNP,haplotype::rs6278(human)	PMID:23691092|REF_RGD_ID:401959324
8758883	Drd2	dopamine receptor D2	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:2520	D	RGD:9068941	20200609	RGD		protein:increased activity:caudate putamen (rat)	PMID:18284941|REF_RGD_ID:2311586
8758883	Drd2	dopamine receptor D2	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:10900248|PMID:11751029|PMID:11923462|PMID:15010698|PMID:15042275|PMID:16541082|PMID:16971900|PMID:17332411|PMID:18418874|PMID:20494958
8758883	Drd2	dopamine receptor D2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2520	D	RGD:9068941	20200609	RGD		protein:altered activity:hypothalamus, pancreatic islet, brainstem (rat)	PMID:17174299|REF_RGD_ID:1624999
8758883	Drd2	dopamine receptor D2	gene	DOID:9005968	Neuralgia		ISO	RGD:2520	D	RGD:9068941	20200609	RGD			PMID:22171983|PMID:22902996|REF_RGD_ID:6907443|REF_RGD_ID:6907447
8758883	Drd2	dopamine receptor D2	gene	DOID:9006024	Hypotension		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10626749|PMID:12946566|PMID:1724532|PMID:9917201
8758883	Drd2	dopamine receptor D2	gene	DOID:9006302	Binge Drinking		ISO	RGD:2520	D	RGD:9068941	20240328	RGD		mRNA:altered exxpression:spleen (rat)	PMID:23413777|REF_RGD_ID:405100715
8758883	Drd2	dopamine receptor D2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8758883	Drd2	dopamine receptor D2	gene	DOID:9007001	Bradycardia		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10626749|PMID:1724532
8758883	Drd2	dopamine receptor D2	gene	DOID:9008023	Memory Disorders		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21592505
8758883	Drd2	dopamine receptor D2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21592505
8758883	Drd2	dopamine receptor D2	gene	DOID:9008394	Drug-Induced Dyskinesia		ISO	RGD:2520	D	RGD:9068941	20200609	RGD			PMID:18707801|REF_RGD_ID:2311579
8758883	Drd2	dopamine receptor D2	gene	DOID:9008394	Drug-Induced Dyskinesia		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10534246|PMID:14629710|PMID:7845605
8758883	Drd2	dopamine receptor D2	gene	DOID:9008675	Dyskinesias		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16435402
8758883	Drd2	dopamine receptor D2	gene	DOID:9008953	Binge-Eating Disorder		ISO	RGD:2520	D	RGD:9068941	20200609	RGD			PMID:28821448|REF_RGD_ID:13506951
8758883	Drd2	dopamine receptor D2	gene	DOID:9008967	Brain Concussion		ISO	RGD:2520	D	RGD:9068941	20200609	RGD			PMID:26448536|REF_RGD_ID:13506960
8758883	Drd2	dopamine receptor D2	gene	DOID:93	language disorder		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23691092
8758883	Drd2	dopamine receptor D2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736796	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:32806C>T (human)	PMID:18834717|REF_RGD_ID:2311601
8758883	Drd2	dopamine receptor D2	gene	DOID:9970	obesity		ISO	RGD:2520	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:ventral tegmental area (rat)	PMID:18477764|REF_RGD_ID:2311581
8758883	Drd2	dopamine receptor D2	gene	DOID:9970	obesity		ISO	RGD:736796	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:15939106|REF_RGD_ID:1600905
8758883	Drd2	dopamine receptor D2	gene	DOID:9970	obesity		ISO	RGD:736796	D	RGD:9068941	20200609	RGD		DNA:polymorphisms, haplotype:enhancer, promoter, intron:multiple	PMID:17108814|REF_RGD_ID:1600904
8758883	Drd2	dopamine receptor D2	gene	DOID:9975	cocaine dependence		ISO	RGD:2520	D	RGD:9068941	20200609	RGD			PMID:29454035|REF_RGD_ID:13506950
8758883	Drd2	dopamine receptor D2	gene	DOID:9975	cocaine dependence	sexual_dimorphism	ISO	RGD:736796	D	RGD:9068941	20240127	RGD		female only;DNA:SNP: :rs2283265(human)	PMID:30367264|REF_RGD_ID:401959597
8758883	Drd2	dopamine receptor D2	gene	DOID:9975	cocaine dependence	treatment	ISO	RGD:736796	D	RGD:9068941	20240113	RGD		DNA:SNP: :rs2283265(human)	PMID:23635803|REF_RGD_ID:401959203
8758883	Drd2	dopamine receptor D2	gene	DOID:9976	heroin dependence		ISO	RGD:2520	D	RGD:9068941	20200609	RGD			PMID:28598964|REF_RGD_ID:13506959
8758883	Drd2	dopamine receptor D2	gene	DOID:9976	heroin dependence		ISO	RGD:736796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11751029
8758883	Drd2	dopamine receptor D2	gene	DOID:9976	heroin dependence	onset	ISO	RGD:736796	D	RGD:9068941	20240113	RGD		DNA:SNPS:exon, intron:multiples(human)	PMID:28854834|REF_RGD_ID:401959202
8758883	Drd2	dopamine receptor D2	gene	DOID:9976	heroin dependence	susceptibility	ISO	RGD:736796	D	RGD:9068941	20240118	RGD		DNA:SNP:intron:rs1079597(human)	PMID:23840506|REF_RGD_ID:401959223
8758895	Znf518b	zinc finger protein 518B	gene	DOID:1115	sarcoma		ISO	RGD:1604562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8758895	Znf518b	zinc finger protein 518B	gene	DOID:4362	cervical cancer		ISO	RGD:1604562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8758895	Znf518b	zinc finger protein 518B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604562	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8758895	Znf518b	zinc finger protein 518B	gene	DOID:6039	uveal melanoma		ISO	RGD:1604562	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8758895	Znf518b	zinc finger protein 518B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8758895	Znf518b	zinc finger protein 518B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8758910	Lhx6	LIM homeobox 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8758910	Lhx6	LIM homeobox 6	gene	DOID:10534	stomach cancer		ISO	RGD:1314642	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8758910	Lhx6	LIM homeobox 6	gene	DOID:1324	lung cancer		ISO	RGD:1314642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8758910	Lhx6	LIM homeobox 6	gene	DOID:1909	melanoma		ISO	RGD:1314642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8758910	Lhx6	LIM homeobox 6	gene	DOID:4362	cervical cancer		ISO	RGD:1314642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8758910	Lhx6	LIM homeobox 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1314642	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8758910	Lhx6	LIM homeobox 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758910	Lhx6	LIM homeobox 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8758910	Lhx6	LIM homeobox 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8758934	Prune2	prune homolog 2 with BCH domain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8758934	Prune2	prune homolog 2 with BCH domain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8758934	Prune2	prune homolog 2 with BCH domain	gene	DOID:10534	stomach cancer		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8758934	Prune2	prune homolog 2 with BCH domain	gene	DOID:1115	sarcoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8758934	Prune2	prune homolog 2 with BCH domain	gene	DOID:1324	lung cancer		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8758934	Prune2	prune homolog 2 with BCH domain	gene	DOID:1909	melanoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8758934	Prune2	prune homolog 2 with BCH domain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8758934	Prune2	prune homolog 2 with BCH domain	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8758934	Prune2	prune homolog 2 with BCH domain	gene	DOID:4362	cervical cancer		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8758934	Prune2	prune homolog 2 with BCH domain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8758934	Prune2	prune homolog 2 with BCH domain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758934	Prune2	prune homolog 2 with BCH domain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8758934	Prune2	prune homolog 2 with BCH domain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322392	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8758934	Prune2	prune homolog 2 with BCH domain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8758934	Prune2	prune homolog 2 with BCH domain	gene	DOID:9256	colorectal cancer		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8758958	Galnt13	polypeptide N-acetylgalactosaminyltransferase 13	gene	DOID:10534	stomach cancer		ISO	RGD:1343318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8758958	Galnt13	polypeptide N-acetylgalactosaminyltransferase 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8758958	Galnt13	polypeptide N-acetylgalactosaminyltransferase 13	gene	DOID:1324	lung cancer		ISO	RGD:1343318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8758958	Galnt13	polypeptide N-acetylgalactosaminyltransferase 13	gene	DOID:3275	thymoma		ISO	RGD:1343318	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8758958	Galnt13	polypeptide N-acetylgalactosaminyltransferase 13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8758958	Galnt13	polypeptide N-acetylgalactosaminyltransferase 13	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8758958	Galnt13	polypeptide N-acetylgalactosaminyltransferase 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1343318	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8758958	Galnt13	polypeptide N-acetylgalactosaminyltransferase 13	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8758958	Galnt13	polypeptide N-acetylgalactosaminyltransferase 13	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1343318	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
8758958	Galnt13	polypeptide N-acetylgalactosaminyltransferase 13	gene	DOID:9006063	Zimmermann-Laband Syndrome 3		ISO	RGD:1343318	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Zimmermann-Laband syndrome 3	PMID:25741868
8758978	Mchr1	melanin concentrating hormone receptor 1	gene	DOID:11981	morbid obesity	onset	ISO	RGD:733421	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter	PMID:16186414|REF_RGD_ID:1624359
8758978	Mchr1	melanin concentrating hormone receptor 1	gene	DOID:9970	obesity		ISO	RGD:619841	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hypothalamus	PMID:15363890|REF_RGD_ID:1624360
8758984	Rapgef4	Rap guanine nucleotide exchange factor 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8758984	Rapgef4	Rap guanine nucleotide exchange factor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8758984	Rapgef4	Rap guanine nucleotide exchange factor 4	gene	DOID:10534	stomach cancer		ISO	RGD:1351048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8758984	Rapgef4	Rap guanine nucleotide exchange factor 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8758984	Rapgef4	Rap guanine nucleotide exchange factor 4	gene	DOID:1115	sarcoma		ISO	RGD:1351048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8758984	Rapgef4	Rap guanine nucleotide exchange factor 4	gene	DOID:12849	autistic disorder		ISO	RGD:1351048	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:multiple (human)	PMID:14593429|REF_RGD_ID:9835387
8758984	Rapgef4	Rap guanine nucleotide exchange factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8758984	Rapgef4	Rap guanine nucleotide exchange factor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8758984	Rapgef4	Rap guanine nucleotide exchange factor 4	gene	DOID:9007730	Burns	treatment	ISO	RGD:621886	D	RGD:9068941	20200609	RGD			PMID:24973766|REF_RGD_ID:9850087
8758984	Rapgef4	Rap guanine nucleotide exchange factor 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8758984	Rapgef4	Rap guanine nucleotide exchange factor 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1351048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8759035	Pigh	phosphatidylinositol glycan anchor biosynthesis class H	gene	DOID:10283	prostate cancer		ISO	RGD:1322902	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8759035	Pigh	phosphatidylinositol glycan anchor biosynthesis class H	gene	DOID:9003249	Glycosylphosphatidylinositol Biosynthesis Defect 17		ISO	RGD:1322902	D	RGD:7240710	20190315	OMIM			
8759058	Ubxn7	UBX domain protein 7	gene	DOID:10534	stomach cancer		ISO	RGD:1607058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8759058	Ubxn7	UBX domain protein 7	gene	DOID:3275	thymoma		ISO	RGD:1607058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8759058	Ubxn7	UBX domain protein 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1607058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8759058	Ubxn7	UBX domain protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759058	Ubxn7	UBX domain protein 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8759089	Uba3	ubiquitin like modifier activating enzyme 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8759089	Uba3	ubiquitin like modifier activating enzyme 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8759089	Uba3	ubiquitin like modifier activating enzyme 3	gene	DOID:0060058	lymphoma		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8759089	Uba3	ubiquitin like modifier activating enzyme 3	gene	DOID:10534	stomach cancer		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8759089	Uba3	ubiquitin like modifier activating enzyme 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8759089	Uba3	ubiquitin like modifier activating enzyme 3	gene	DOID:1115	sarcoma		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8759089	Uba3	ubiquitin like modifier activating enzyme 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8759089	Uba3	ubiquitin like modifier activating enzyme 3	gene	DOID:3070	high grade glioma		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8759089	Uba3	ubiquitin like modifier activating enzyme 3	gene	DOID:4362	cervical cancer		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8759089	Uba3	ubiquitin like modifier activating enzyme 3	gene	DOID:5041	esophageal cancer		ISO	RGD:737348	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8759089	Uba3	ubiquitin like modifier activating enzyme 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8759089	Uba3	ubiquitin like modifier activating enzyme 3	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8759089	Uba3	ubiquitin like modifier activating enzyme 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759089	Uba3	ubiquitin like modifier activating enzyme 3	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8759089	Uba3	ubiquitin like modifier activating enzyme 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759089	Uba3	ubiquitin like modifier activating enzyme 3	gene	DOID:9256	colorectal cancer		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8759121	Sh3bp5	SH3 domain binding protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8759121	Sh3bp5	SH3 domain binding protein 5	gene	DOID:1324	lung cancer		ISO	RGD:733305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8759121	Sh3bp5	SH3 domain binding protein 5	gene	DOID:3275	thymoma		ISO	RGD:733305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8759121	Sh3bp5	SH3 domain binding protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759131	Glo1	glyoxalase I	gene	DOID:0111424	branchiootorenal syndrome 2		ISO	RGD:1350387	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Branchiootorenal syndrome 2	
8759131	Glo1	glyoxalase I	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8759131	Glo1	glyoxalase I	gene	DOID:12849	autistic disorder		ISO	RGD:1350387	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:15386471
8759131	Glo1	glyoxalase I	gene	DOID:12849	autistic disorder	resistance	ISO	RGD:1350387	D	RGD:9068941	20200609	RGD		DNA:SNP: :419C>A (human)	PMID:17346350|REF_RGD_ID:7242568
8759131	Glo1	glyoxalase I	gene	DOID:1596	depressive disorder		ISO	RGD:1350387	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22113448
8759131	Glo1	glyoxalase I	gene	DOID:178	vascular disease		ISO	RGD:1350387	D	RGD:9068941	20200609	RGD		DNA:SNP: :419C>A (human)	PMID:18079478|REF_RGD_ID:7242571
8759131	Glo1	glyoxalase I	gene	DOID:1909	melanoma		ISO	RGD:1350387	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20093988
8759131	Glo1	glyoxalase I	gene	DOID:2030	anxiety disorder		ISO	RGD:1350387	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22113448
8759131	Glo1	glyoxalase I	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1350387	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
8759131	Glo1	glyoxalase I	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759131	Glo1	glyoxalase I	gene	DOID:783	end stage renal disease	severity	ISO	RGD:1350387	D	RGD:9068941	20200609	RGD		DNA:SNP: :419C>A (human)	PMID:20185929|REF_RGD_ID:7242570
8759131	Glo1	glyoxalase I	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1350387	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-7C>T (human)	PMID:21738003|REF_RGD_ID:7242569
8759131	Glo1	glyoxalase I	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1350387	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-7C>T (human)	PMID:21738003|REF_RGD_ID:7242569
8759131	Glo1	glyoxalase I	gene	DOID:9002661	Diabetes Complications	no_association	ISO	RGD:1350387	D	RGD:9068941	20200609	RGD		DNA:SNP: :419C>A (human)	PMID:21738003|REF_RGD_ID:7242569
8759131	Glo1	glyoxalase I	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1350387	D	RGD:9068941	20200609	RGD			PMID:19211689|REF_RGD_ID:7242566
8759131	Glo1	glyoxalase I	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:2702	D	RGD:9068941	20200609	RGD			PMID:19211689|REF_RGD_ID:7242566
8759131	Glo1	glyoxalase I	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1350387	D	RGD:9068941	20200609	RGD		DNA:point mutation: :c.332A>C (human)	PMID:18413187|REF_RGD_ID:7242567
8759142	Syne3	spectrin repeat containing nuclear envelope family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1312072	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8759142	Syne3	spectrin repeat containing nuclear envelope family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8759142	Syne3	spectrin repeat containing nuclear envelope family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1312072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8759142	Syne3	spectrin repeat containing nuclear envelope family member 3	gene	DOID:12858	Huntington's disease		ISO	RGD:1312072	D	RGD:9068941	20200609	RGD		up-regulated	PMID:22202438|REF_RGD_ID:11073597
8759142	Syne3	spectrin repeat containing nuclear envelope family member 3	gene	DOID:1909	melanoma		ISO	RGD:1312072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8759142	Syne3	spectrin repeat containing nuclear envelope family member 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8759142	Syne3	spectrin repeat containing nuclear envelope family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1312072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8759142	Syne3	spectrin repeat containing nuclear envelope family member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8759142	Syne3	spectrin repeat containing nuclear envelope family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759142	Syne3	spectrin repeat containing nuclear envelope family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8759142	Syne3	spectrin repeat containing nuclear envelope family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759142	Syne3	spectrin repeat containing nuclear envelope family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:1909	melanoma		ISO	RGD:1347132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:732736	D	RGD:9068941	20200609	RGD			PMID:17182591|REF_RGD_ID:4146242
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:2841	asthma		ISO	RGD:1347132	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :1398A>G (human)	PMID:17006604|REF_RGD_ID:4892639
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:2841	asthma		ISO	RGD:732736	D	RGD:9068941	20200609	RGD			PMID:11714828|PMID:18480254|REF_RGD_ID:4892647|REF_RGD_ID:4892654
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:2841	asthma		ISO	RGD:732736	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bronchus	PMID:20383033|REF_RGD_ID:4892646
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:2841	asthma	no_association	ISO	RGD:1347132	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :1050C>T (human)	PMID:10686479|REF_RGD_ID:4892655
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:2841	asthma	no_association	ISO	RGD:1347132	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:promoter, 3' utr:-281T>G, 1365A>G (human)	PMID:17392323|REF_RGD_ID:4892650
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1347132	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2250747 (human)	PMID:19796199|REF_RGD_ID:4145601
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:3275	thymoma		ISO	RGD:1347132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:3310	atopic dermatitis		ISO	RGD:1347132	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin	PMID:14527737|REF_RGD_ID:8549525
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:418	systemic scleroderma	no_association	ISO	RGD:1347132	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:43163G>A (rs6646259) (human)	PMID:22045834|REF_RGD_ID:8549502
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347132	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1347132	D	RGD:9068941	20200609	RGD			PMID:20808962|REF_RGD_ID:4892610
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:732736	D	RGD:9068941	20200609	RGD			PMID:20671265|REF_RGD_ID:4892611
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:8893	psoriasis		ISO	RGD:1347132	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin	PMID:14527737|REF_RGD_ID:8549525
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8759185	Il13ra1	interleukin 13 receptor subunit alpha 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1347132	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30718926
8759203	Phf12	PHD finger protein 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8759203	Phf12	PHD finger protein 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313935	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8759203	Phf12	PHD finger protein 12	gene	DOID:1909	melanoma		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8759203	Phf12	PHD finger protein 12	gene	DOID:3275	thymoma		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8759203	Phf12	PHD finger protein 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8759203	Phf12	PHD finger protein 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759203	Phf12	PHD finger protein 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8759203	Phf12	PHD finger protein 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759203	Phf12	PHD finger protein 12	gene	DOID:9008582	Developmental Disease		ISO	RGD:1313935	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8759203	Phf12	PHD finger protein 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8759223	Cntln	centlein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8759223	Cntln	centlein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8759223	Cntln	centlein	gene	DOID:0060058	lymphoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8759223	Cntln	centlein	gene	DOID:10534	stomach cancer		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8759223	Cntln	centlein	gene	DOID:1115	sarcoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8759223	Cntln	centlein	gene	DOID:1324	lung cancer		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8759223	Cntln	centlein	gene	DOID:13938	amenorrhea		ISO	RGD:1317678	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
8759223	Cntln	centlein	gene	DOID:1909	melanoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8759223	Cntln	centlein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8759223	Cntln	centlein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8759223	Cntln	centlein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8759223	Cntln	centlein	gene	DOID:4362	cervical cancer		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8759223	Cntln	centlein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317678	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8759223	Cntln	centlein	gene	DOID:5041	esophageal cancer		ISO	RGD:1317678	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8759223	Cntln	centlein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759223	Cntln	centlein	gene	DOID:6039	uveal melanoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8759223	Cntln	centlein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8759223	Cntln	centlein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8759223	Cntln	centlein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759223	Cntln	centlein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8759223	Cntln	centlein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8759223	Cntln	centlein	gene	DOID:9256	colorectal cancer		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8759254	Adcy2	adenylate cyclase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8759254	Adcy2	adenylate cyclase 2	gene	DOID:0050591	tooth agenesis		ISO	RGD:734219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligodontia	
8759254	Adcy2	adenylate cyclase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8759254	Adcy2	adenylate cyclase 2	gene	DOID:10534	stomach cancer		ISO	RGD:734219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8759254	Adcy2	adenylate cyclase 2	gene	DOID:1059	intellectual disability		ISO	RGD:734219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8759254	Adcy2	adenylate cyclase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8759254	Adcy2	adenylate cyclase 2	gene	DOID:1115	sarcoma		ISO	RGD:734219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8759254	Adcy2	adenylate cyclase 2	gene	DOID:12849	autistic disorder		ISO	RGD:734219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
8759254	Adcy2	adenylate cyclase 2	gene	DOID:1324	lung cancer		ISO	RGD:734219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8759254	Adcy2	adenylate cyclase 2	gene	DOID:1826	epilepsy		ISO	RGD:734219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8759254	Adcy2	adenylate cyclase 2	gene	DOID:1909	melanoma		ISO	RGD:734219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8759254	Adcy2	adenylate cyclase 2	gene	DOID:2841	asthma		ISO	RGD:734219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21912604
8759254	Adcy2	adenylate cyclase 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:734219	D	RGD:9068941	20260205	RGD		DNA:SNP: :rs11134242	PMID:22461431|REF_RGD_ID:632518335
8759254	Adcy2	adenylate cyclase 2	gene	DOID:3312	bipolar disorder		ISO	RGD:734219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
8759254	Adcy2	adenylate cyclase 2	gene	DOID:3312	bipolar disorder		ISO	RGD:737238	D	RGD:9068941	20251009	MouseDO			
8759254	Adcy2	adenylate cyclase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8759254	Adcy2	adenylate cyclase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8759254	Adcy2	adenylate cyclase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759254	Adcy2	adenylate cyclase 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:734219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8759254	Adcy2	adenylate cyclase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8759254	Adcy2	adenylate cyclase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:734219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8759283	Me2	malic enzyme 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8759283	Me2	malic enzyme 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8759283	Me2	malic enzyme 2	gene	DOID:1115	sarcoma		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8759283	Me2	malic enzyme 2	gene	DOID:1909	melanoma		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8759283	Me2	malic enzyme 2	gene	DOID:3275	thymoma		ISO	RGD:1321157	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8759283	Me2	malic enzyme 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8759283	Me2	malic enzyme 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8759283	Me2	malic enzyme 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321157	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8759283	Me2	malic enzyme 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759283	Me2	malic enzyme 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:39401966
8759283	Me2	malic enzyme 2	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:1310321	D	RGD:9068941	20220224	RGD		mRNA:increased expression:right  and right ventricles	PMID:23794090|REF_RGD_ID:151361111
8759283	Me2	malic enzyme 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759283	Me2	malic enzyme 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8759283	Me2	malic enzyme 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8759306	Pabir2	PABIR family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8759306	Pabir2	PABIR family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8759306	Pabir2	PABIR family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605855	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8759306	Pabir2	PABIR family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759306	Pabir2	PABIR family member 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8759306	Pabir2	PABIR family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759306	Pabir2	PABIR family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8759306	Pabir2	PABIR family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8759321	Rab39b	RAB39B, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8759321	Rab39b	RAB39B, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8759321	Rab39b	RAB39B, member RAS oncogene family	gene	DOID:0060309	syndromic X-linked intellectual disability		ISO	RGD:1623199	D	RGD:9068941	20220825	MouseDO			
8759321	Rab39b	RAB39B, member RAS oncogene family	gene	DOID:0111781	Waisman syndrome		ISO	RGD:1354105	D	RGD:7240710	20180130	OMIM			
8759321	Rab39b	RAB39B, member RAS oncogene family	gene	DOID:0111781	Waisman syndrome		ISO	RGD:1354105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Early-onset parkinsonism-intellectual disability syndrome | ClinVar Annotator: match by term: WAISMAN SYNDROME	PMID:25741868|PMID:26399558
8759321	Rab39b	RAB39B, member RAS oncogene family	gene	DOID:0112059	non-syndromic X-linked intellectual disability 72		ISO	RGD:1354105	D	RGD:7240710	20180130	OMIM			
8759321	Rab39b	RAB39B, member RAS oncogene family	gene	DOID:0112059	non-syndromic X-linked intellectual disability 72		ISO	RGD:1354105	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 72 | ClinVar Annotator: match by term: RAB39B-related condition	PMID:25741868|PMID:27459931|PMID:28492532|PMID:28851564
8759321	Rab39b	RAB39B, member RAS oncogene family	gene	DOID:1059	intellectual disability		ISO	RGD:1354105	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21076407
8759321	Rab39b	RAB39B, member RAS oncogene family	gene	DOID:10907	microcephaly		ISO	RGD:1354105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8759321	Rab39b	RAB39B, member RAS oncogene family	gene	DOID:12849	autistic disorder		ISO	RGD:1354105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
8759321	Rab39b	RAB39B, member RAS oncogene family	gene	DOID:1826	epilepsy		ISO	RGD:1354105	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20159109
8759321	Rab39b	RAB39B, member RAS oncogene family	gene	DOID:630	genetic disease		ISO	RGD:1354105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8759321	Rab39b	RAB39B, member RAS oncogene family	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1354105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8759321	Rab39b	RAB39B, member RAS oncogene family	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1354105	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8759321	Rab39b	RAB39B, member RAS oncogene family	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1354105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8759321	Rab39b	RAB39B, member RAS oncogene family	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1354105	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20159109
8759321	Rab39b	RAB39B, member RAS oncogene family	gene	DOID:9006820	Parkinson's Disease, X-Linked Dominant		ISO	RGD:1354105	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: X-linked dominant Parkinson's disease	PMID:26399558
8759321	Rab39b	RAB39B, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759321	Rab39b	RAB39B, member RAS oncogene family	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1354105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8759321	Rab39b	RAB39B, member RAS oncogene family	gene	DOID:9008582	Developmental Disease		ISO	RGD:1354105	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8759321	Rab39b	RAB39B, member RAS oncogene family	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1354105	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20159109
8759357	Cfap299	cilia and flagella associated protein 299	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759371	Galntl6	polypeptide N-acetylgalactosaminyltransferase like 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2301498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8759371	Galntl6	polypeptide N-acetylgalactosaminyltransferase like 6	gene	DOID:1324	lung cancer		ISO	RGD:2301498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8759371	Galntl6	polypeptide N-acetylgalactosaminyltransferase like 6	gene	DOID:3275	thymoma		ISO	RGD:2301498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8759371	Galntl6	polypeptide N-acetylgalactosaminyltransferase like 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:2301498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8759371	Galntl6	polypeptide N-acetylgalactosaminyltransferase like 6	gene	DOID:4362	cervical cancer		ISO	RGD:2301498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8759371	Galntl6	polypeptide N-acetylgalactosaminyltransferase like 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2301498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759371	Galntl6	polypeptide N-acetylgalactosaminyltransferase like 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2301498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8759371	Galntl6	polypeptide N-acetylgalactosaminyltransferase like 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2301498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8759388	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:0061062	immunodeficiency 92		ISO	RGD:1322580	D	RGD:7240710	20211222	OMIM			
8759388	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:0061062	immunodeficiency 92		ISO	RGD:1322580	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 92 | ClinVar Annotator: match by term: Immunodeficiency 92 | ClinVar Annotator: match by term: REL-related condition | ClinVar Annotator: match by term: immunodeficiency 92	PMID:25741868|PMID:28492532
8759388	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1322580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8759388	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:1115	sarcoma		ISO	RGD:1322580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8759388	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:1612	breast cancer		ISO	RGD:1322580	D	RGD:9068941	20200609	RGD		protein:increased expression, altered localization:tumor:increased protein levels and nuclear translocation vs adjacent normal breast tissue	PMID:10713699|REF_RGD_ID:2300275
8759388	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1322580	D	RGD:9068941	20200609	RGD		Urinary bladder TCC;  protein, mRNA:altered localization, increased expression:tumor:increased expression (p<0.01) and increased nuclear localization (p<0.01) vs adjacent non-cancerous bladder mucosa	PMID:12452071|REF_RGD_ID:2300270
8759388	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759388	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8759388	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1322580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19503088|PMID:20453842|PMID:23143596
8759388	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:1322580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21037568
8759388	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:8893	psoriasis		ISO	RGD:1322580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20953190
8759388	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:8929	atrophic gastritis		ISO	RGD:1322581	D	RGD:9068941	20201218	RGD		associated with Helicobacter Infections	PMID:23975431|REF_RGD_ID:40902973
8759388	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1322581	D	RGD:9068941	20200609	RGD		DNA:transgene:mammary gland:mouse c-Rel cDNA driven by the MMTV-LTR promoter	PMID:12897145|REF_RGD_ID:2300264
8759388	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:9000495	Tremor		ISO	RGD:1322580	D	RGD:9068941	20210212	CTD		CTD Direct Evidence: therapeutic	PMID:31481676
8759388	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:9000831	Hypokinesia		ISO	RGD:1322580	D	RGD:9068941	20210212	CTD		CTD Direct Evidence: therapeutic	PMID:31481676
8759388	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:9004649	Heat Stroke		ISO	RGD:1322580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24039931
8759388	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:9008023	Memory Disorders		ISO	RGD:1322580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20477932
8759388	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1322581	D	RGD:9068941	20201218	RGD		associated with Experimental Colitis	PMID:25727407|REF_RGD_ID:40902978
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:0051003	congenital nonspherocytic hemolytic anemia 1		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 1	PMID:25741868|PMID:36168867
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:0060249	scoliosis		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:18414213|PMID:19165920|PMID:20029458|PMID:21954287|PMID:22452838|PMID:22709267|PMID:24278995|PMID:24781210|PMID:25741868|PMID:28492532|PMID:36168867|PMID:38622473
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:0060309	syndromic X-linked intellectual disability		ISO	RGD:733678	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: X-linked syndromic intellectual disability	PMID:22452838|PMID:25741868
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:733678	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Smith-Magenis Syndrome-like	PMID:25741868|PMID:27799067|PMID:28492532|PMID:33090494
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:0060807	syndromic X-linked intellectual disability Najm type		ISO	RGD:733678	D	RGD:7240710	20180130	OMIM			
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:0060807	syndromic X-linked intellectual disability Najm type		ISO	RGD:733678	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND PONTINE AND CEREBELLAR HYPOPLASIA | ClinVar Annotator: match by term: Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia | ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked | ClinVar Annotator: match by term: Mental retardation and microcephaly with pontine and cerebellar hypoplasia | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type	PMID:16199547|PMID:17576681|PMID:18414213|PMID:19165920|PMID:20029458|PMID:21609947|PMID:21735175|PMID:21954287|PMID:22452838|PMID:22495306|PMID:22709267|PMID:23165780|PMID:23406872|PMID:24278995|PMID:24505460|PMID:24781210|PMID:25326637|PMID:25533962|PMID:25640679|PMID:25741868|PMID:25886057|PMID:26467025|PMID:27173948|PMID:27799067|PMID:28132688|PMID:28407358|PMID:28492532|PMID:28518168|PMID:28783747|PMID:28944139|PMID:29258560|PMID:29691940|PMID:30525188|PMID:30549415|PMID:31044082|PMID:31474318|PMID:31623504|PMID:31785789|PMID:32461654|PMID:33090494|PMID:33504798|PMID:33629417|PMID:34085948|PMID:35281599|PMID:35550617|PMID:35670295|PMID:36137748|PMID:36168867|PMID:38622473|PMID:9536098
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:0070297	primary microcephaly		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:36168867
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	PMID:18414213|PMID:19165920|PMID:20029458|PMID:21954287|PMID:22452838|PMID:22709267|PMID:24278995|PMID:24781210|PMID:25741868|PMID:28492532|PMID:32581362|PMID:36168867|PMID:38622473
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:18414213|PMID:19165920|PMID:20029458|PMID:21954287|PMID:22452838|PMID:22709267|PMID:24278995|PMID:24781210|PMID:25741868|PMID:28492532|PMID:36168867|PMID:38622473
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:10283	prostate cancer		ISO	RGD:733678	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:10534	stomach cancer		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:1059	intellectual disability		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Mild intellectual disability	PMID:18414213|PMID:19165920|PMID:20029458|PMID:21954287|PMID:22452838|PMID:22709267|PMID:24278995|PMID:24781210|PMID:25741868|PMID:28492532|PMID:36168867|PMID:38622473
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:10907	microcephaly		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:18414213|PMID:19165920|PMID:20029458|PMID:21954287|PMID:22452838|PMID:22709267|PMID:24278995|PMID:24781210|PMID:25741868|PMID:28492532|PMID:32581362|PMID:36168867|PMID:38622473
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:1115	sarcoma		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:12849	autistic disorder		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:27799067|PMID:28492532|PMID:33090494
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:13628	favism		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Favism, susceptibility to	PMID:25741868|PMID:36168867
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:14711	FG syndrome		ISO	RGD:733678	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: FG syndrome	PMID:25741868
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:1826	epilepsy		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:18414213|PMID:19165920|PMID:20029458|PMID:21954287|PMID:22452838|PMID:22709267|PMID:24278995|PMID:24781210|PMID:25741868|PMID:27799067|PMID:28492532|PMID:33090494|PMID:36168867|PMID:38622473
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:1827	generalized epilepsy		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:18414213|PMID:19165920|PMID:20029458|PMID:21954287|PMID:22452838|PMID:22709267|PMID:24278995|PMID:24781210|PMID:25741868|PMID:27799067|PMID:28492532|PMID:30525188|PMID:33090494|PMID:36168867|PMID:38622473
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:1909	melanoma		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:1969	cerebral palsy		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868|PMID:27799067|PMID:28492532|PMID:33090494
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:2786	cerebellar disease		ISO	RGD:733678	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19165920
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:2862	glucosephosphate dehydrogenase deficiency		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia due to G6PD deficiency	PMID:25741868|PMID:36168867
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:305	carcinoma		ISO	RGD:733678	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:3275	thymoma		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:4362	cervical cancer		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:480	movement disease		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:543	dystonia		ISO	RGD:733678	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dystonia	PMID:25741868
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:5723	optic atrophy		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:18414213|PMID:19165920|PMID:20029458|PMID:21954287|PMID:22452838|PMID:22709267|PMID:24278995|PMID:24781210|PMID:25741868|PMID:28492532|PMID:36168867|PMID:38622473
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:630	genetic disease		ISO	RGD:733678	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:18414213|PMID:19165920|PMID:20029458|PMID:21954287|PMID:22452838|PMID:22709267|PMID:24278995|PMID:24781210|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28518168|PMID:28783747|PMID:29691940|PMID:32461654|PMID:34085948|PMID:35281599|PMID:36168867|PMID:38622473
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:674	cleft palate		ISO	RGD:62296	D	RGD:9068941	20200609	RGD		DNA:insertion	PMID:9787075|REF_RGD_ID:11576291
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:674	cleft palate		ISO	RGD:733678	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9787075
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:733678	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9000441	Butyrylcholinesterase Deficiency		ISO	RGD:733678	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Deficiency of butyrylcholine esterase	PMID:25741868
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9000459	Acholinesterasemia		ISO	RGD:733678	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Acholinesterasemia	PMID:25741868
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9000998	Brain Injuries		ISO	RGD:62004	D	RGD:9068941	20200609	RGD			PMID:25089700|REF_RGD_ID:11576302
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9001031	Retrognathia		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:18414213|PMID:19165920|PMID:20029458|PMID:21954287|PMID:22452838|PMID:22709267|PMID:24278995|PMID:24781210|PMID:25741868|PMID:28492532|PMID:36168867|PMID:38622473
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9001153	FG Syndrome 4		ISO	RGD:733678	D	RGD:7240710	20200226	OMIM			
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9001153	FG Syndrome 4		ISO	RGD:733678	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CASK-related condition | ClinVar Annotator: match by term: CASK-related disorder | ClinVar Annotator: match by term: FG SYNDROME 4 | ClinVar Annotator: match by term: FG syndrome 4	PMID:18414213|PMID:19165920|PMID:20029458|PMID:21954287|PMID:22452838|PMID:22709267|PMID:24278995|PMID:24781210|PMID:25741868|PMID:26467025|PMID:27799067|PMID:28492532|PMID:28518168|PMID:30525188|PMID:32461654|PMID:33090494|PMID:35281599|PMID:35568357|PMID:36168867|PMID:38622473
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:27799067|PMID:28492532|PMID:33090494
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9003507	Premature Birth		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:733678	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9004866	Ataxia		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9005077	Joint Instability		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:733678	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:18414213|PMID:19165920|PMID:20029458|PMID:21954287|PMID:22452838|PMID:22709267|PMID:24278995|PMID:24781210|PMID:25741868|PMID:27799067|PMID:28492532|PMID:33090494|PMID:36168867|PMID:38622473
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9005616	Micrognathism		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9005850	Hereditary Optic Atrophies		ISO	RGD:733678	D	RGD:9068941	20200609	RGD			PMID:9722958|REF_RGD_ID:734690
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:733678	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19165920|PMID:19377476
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:733678	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:27799067|PMID:28492532|PMID:30525188|PMID:33090494
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9007114	Mobility Limitation		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:25741868|PMID:27799067|PMID:28492532|PMID:30525188|PMID:33090494
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9008023	Memory Disorders		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:18414213|PMID:19165920|PMID:20029458|PMID:21954287|PMID:22452838|PMID:22709267|PMID:24278995|PMID:24781210|PMID:25741868|PMID:28492532|PMID:32581362|PMID:36168867|PMID:38622473
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9008582	Developmental Disease		ISO	RGD:733678	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:936	brain disease		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy | ClinVar Annotator: match by term: Infantile encephalopathy	
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:733678	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:18414213|PMID:19165920|PMID:20029458|PMID:21954287|PMID:22452838|PMID:22709267|PMID:24278995|PMID:24781210|PMID:25741868|PMID:28492532|PMID:36168867|PMID:38622473
8759402	Cask	calcium/calmodulin dependent serine protein kinase	gene	DOID:9834	hyperopia		ISO	RGD:733678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:27799067|PMID:28492532|PMID:33090494
8759443	Arrb1	arrestin beta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8759443	Arrb1	arrestin beta 1	gene	DOID:0060180	colitis		ISO	RGD:2156	D	RGD:9068941	20200609	RGD		protein:increased expression:colon (rat)	PMID:21066892|REF_RGD_ID:5509893
8759443	Arrb1	arrestin beta 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8759443	Arrb1	arrestin beta 1	gene	DOID:1115	sarcoma		ISO	RGD:732370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8759443	Arrb1	arrestin beta 1	gene	DOID:1470	major depressive disorder	severity	ISO	RGD:732370	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood, mononuclear cell	PMID:15514408|REF_RGD_ID:1578803
8759443	Arrb1	arrestin beta 1	gene	DOID:3275	thymoma		ISO	RGD:732370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8759443	Arrb1	arrestin beta 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8759443	Arrb1	arrestin beta 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:732370	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26396155
8759443	Arrb1	arrestin beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759443	Arrb1	arrestin beta 1	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:2156	D	RGD:9068941	20200609	RGD			PMID:21232674|REF_RGD_ID:5509888
8759443	Arrb1	arrestin beta 1	gene	DOID:6039	uveal melanoma		ISO	RGD:732370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8759443	Arrb1	arrestin beta 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8759443	Arrb1	arrestin beta 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2156	D	RGD:9068941	20200609	RGD		protein:increased expression:knee, synoviocyte (rat)	PMID:20965243|REF_RGD_ID:5509895
8759443	Arrb1	arrestin beta 1	gene	DOID:9004283	Transplant Rejection		ISO	RGD:2156	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:blood, leukocyte	PMID:21193245|REF_RGD_ID:13506894
8759443	Arrb1	arrestin beta 1	gene	DOID:9005605	Arteriovenous Fistula		ISO	RGD:2156	D	RGD:9068941	20200609	RGD		mRNA, protein:altered expression:left ventricle (rat)	PMID:22015551|REF_RGD_ID:5509867
8759443	Arrb1	arrestin beta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759443	Arrb1	arrestin beta 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8759476	Hip1r	huntingtin interacting protein 1 related	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8759476	Hip1r	huntingtin interacting protein 1 related	gene	DOID:0060224	atrial fibrillation		ISO	RGD:733372	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
8759476	Hip1r	huntingtin interacting protein 1 related	gene	DOID:10534	stomach cancer		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8759476	Hip1r	huntingtin interacting protein 1 related	gene	DOID:1324	lung cancer		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8759476	Hip1r	huntingtin interacting protein 1 related	gene	DOID:3275	thymoma		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8759476	Hip1r	huntingtin interacting protein 1 related	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8759476	Hip1r	huntingtin interacting protein 1 related	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8759476	Hip1r	huntingtin interacting protein 1 related	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8759476	Hip1r	huntingtin interacting protein 1 related	gene	DOID:5041	esophageal cancer		ISO	RGD:733372	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8759476	Hip1r	huntingtin interacting protein 1 related	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759476	Hip1r	huntingtin interacting protein 1 related	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8759476	Hip1r	huntingtin interacting protein 1 related	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759476	Hip1r	huntingtin interacting protein 1 related	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8759476	Hip1r	huntingtin interacting protein 1 related	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8759530	Agpat3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8759530	Agpat3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1314029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8759530	Agpat3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:1059	intellectual disability		ISO	RGD:1314029	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8759530	Agpat3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:1115	sarcoma		ISO	RGD:1314029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8759530	Agpat3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1314029	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15964507
8759530	Agpat3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1314029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8759530	Agpat3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1314029	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8759530	Agpat3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759530	Agpat3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8759530	Agpat3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8759575	Bcl2l11	BCL2 like 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734299	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8759575	Bcl2l11	BCL2 like 11	gene	DOID:1115	sarcoma		ISO	RGD:734299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8759575	Bcl2l11	BCL2 like 11	gene	DOID:14268	sclerosing cholangitis		ISO	RGD:734299	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21151127
8759575	Bcl2l11	BCL2 like 11	gene	DOID:2921	glomerulonephritis		ISO	RGD:734300	D	RGD:9068941	20200609	RGD			PMID:10576740|REF_RGD_ID:734641
8759575	Bcl2l11	BCL2 like 11	gene	DOID:3275	thymoma		ISO	RGD:734299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8759575	Bcl2l11	BCL2 like 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8759575	Bcl2l11	BCL2 like 11	gene	DOID:5041	esophageal cancer		ISO	RGD:734299	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8759575	Bcl2l11	BCL2 like 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759575	Bcl2l11	BCL2 like 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8759575	Bcl2l11	BCL2 like 11	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:734299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8759575	Bcl2l11	BCL2 like 11	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:734299	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
8759575	Bcl2l11	BCL2 like 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8759575	Bcl2l11	BCL2 like 11	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:734299	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
8759634	Sphkap	SPHK1 interactor, AKAP domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8759634	Sphkap	SPHK1 interactor, AKAP domain containing	gene	DOID:6000	congestive heart failure		ISO	RGD:1604287	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
8759651	Ccnt1	cyclin T1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8759651	Ccnt1	cyclin T1	gene	DOID:0060058	lymphoma		ISO	RGD:1322457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8759651	Ccnt1	cyclin T1	gene	DOID:3275	thymoma		ISO	RGD:1322457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8759651	Ccnt1	cyclin T1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759651	Ccnt1	cyclin T1	gene	DOID:6000	congestive heart failure		ISO	RGD:1322458	D	RGD:9068941	20200609	RGD			PMID:15297879|REF_RGD_ID:1556509
8759651	Ccnt1	cyclin T1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1311151	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:liver:	PMID:20828602|REF_RGD_ID:9698426
8759651	Ccnt1	cyclin T1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:735982	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness	PMID:20127975|PMID:25741868|PMID:28492532|PMID:28690485|PMID:30311386|PMID:31898538|PMID:34142234|PMID:34997062|PMID:8659547
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:0050564	autosomal dominant nonsyndromic deafness		ISO	RGD:735982	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss	PMID:25741868
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:0050567	orofacial cleft		ISO	RGD:735982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:10578055|PMID:18510545|PMID:20127975|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25433395|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26892650|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:36863448|PMID:37635363|PMID:38439523|PMID:666627|PMID:9158138|PMID:9279758
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:0050632	oculocutaneous albinism		ISO	RGD:735982	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9158138
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:0060260	ptosis		ISO	RGD:735982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:10578055|PMID:18510545|PMID:20127975|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25433395|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26892650|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:36863448|PMID:37635363|PMID:38439523|PMID:666627|PMID:9158138|PMID:9279758
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:0070098	oculocutaneous albinism type IV		ISO	RGD:735982	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Albinism, oculocutaneous, type IV	PMID:25741868|PMID:28492532
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:0090002	Tietz syndrome		ISO	RGD:735982	D	RGD:7240710	20260715	OMIM			
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:0090002	Tietz syndrome		ISO	RGD:735982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: TIETZ ALBINISM-DEAFNESS SYNDROME | ClinVar Annotator: match by term: Tietz albinism-deafness syndrome | ClinVar Annotator: match by term: Tietz syndrome	PMID:10578055|PMID:10587587|PMID:15284851|PMID:16199547|PMID:17576681|PMID:18510545|PMID:20127975|PMID:20478267|PMID:22012259|PMID:22080950|PMID:22158021|PMID:22320238|PMID:23167872|PMID:23512835|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24194866|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25433395|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26850479|PMID:26892650|PMID:26999813|PMID:27057829|PMID:27153395|PMID:27349893|PMID:27473757|PMID:27680874|PMID:27759048|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28690485|PMID:28825054|PMID:29115496|PMID:29407415|PMID:29484430|PMID:29506128|PMID:29531335|PMID:29625052|PMID:29706638|PMID:30311386|PMID:30394532|PMID:30414346|PMID:30978479|PMID:31130284|PMID:31213145|PMID:31427586|PMID:31465090|PMID:31541171|PMID:31898538|PMID:32013026|PMID:32054529|PMID:32685391|PMID:32728090|PMID:33051548|PMID:33111345|PMID:33240314|PMID:33724713|PMID:34142234|PMID:34289891|PMID:34662886|PMID:34997062|PMID:36451132|PMID:36515421|PMID:36863448|PMID:37635363|PMID:38374194|PMID:38439523|PMID:38833603|PMID:38844942|PMID:38965328|PMID:39107234|PMID:666627|PMID:7874167|PMID:7874168|PMID:8589691|PMID:8659547|PMID:9158138|PMID:9279758|PMID:9499424|PMID:9536098
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:0090100	ocular albinism with sensorineural deafness		ISO	RGD:735983	D	RGD:9068941	20220825	MouseDO		OMIM:103470	
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:0110948	Waardenburg syndrome type 1		ISO	RGD:735982	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Waardenburg syndrome type 1	PMID:16199547|PMID:20127975|PMID:25741868|PMID:28492532|PMID:30394532|PMID:31541171|PMID:32013026|PMID:34142234|PMID:8659547
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:0110950	Waardenburg syndrome type 2A		ISO	RGD:735982	D	RGD:7240710	20260715	OMIM			
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:0110950	Waardenburg syndrome type 2A		ISO	RGD:735982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: WAARDENBURG SYNDROME WITHOUT DYSTOPIA CANTHORUM | ClinVar Annotator: match by term: WAARDENBURG SYNDROME, TYPE 2A | ClinVar Annotator: match by term: Waardenburg syndrome type 2A	PMID:10578055|PMID:10587587|PMID:10851256|PMID:15284851|PMID:16199547|PMID:17576681|PMID:18510545|PMID:20127975|PMID:20478267|PMID:22012259|PMID:22080950|PMID:22158021|PMID:22320238|PMID:23167872|PMID:23512835|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24194866|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25433395|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26850479|PMID:26892650|PMID:26999813|PMID:27057829|PMID:27153395|PMID:27349893|PMID:27473757|PMID:27680874|PMID:27759048|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28690485|PMID:28825054|PMID:29115496|PMID:29407415|PMID:29484430|PMID:29506128|PMID:29531335|PMID:29625052|PMID:29706638|PMID:30311386|PMID:30394532|PMID:30414346|PMID:30549420|PMID:30978479|PMID:31130284|PMID:31213145|PMID:31427586|PMID:31465090|PMID:31541171|PMID:31898538|PMID:32013026|PMID:32054529|PMID:32685391|PMID:32728090|PMID:33051548|PMID:33111345|PMID:33240314|PMID:33724713|PMID:34142234|PMID:34149797|PMID:34289891|PMID:34599368|PMID:34662886|PMID:34997062|PMID:36451132|PMID:36515421|PMID:36863448|PMID:37635363|PMID:38374194|PMID:38439523|PMID:38833603|PMID:38844942|PMID:38965328|PMID:39107234|PMID:666627|PMID:7874167|PMID:7874168|PMID:8589691|PMID:8659547|PMID:8947051|PMID:9158138|PMID:9279758|PMID:9499424|PMID:9536098
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:0110956	Waardenburg syndrome type 2E		ISO	RGD:735982	D	RGD:9068941	20220714	CTD		CTD Direct Evidence: marker/mechanism	PMID:9158138
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:735982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:20127975|PMID:20478267|PMID:22320238|PMID:24194866|PMID:25741868|PMID:28492532|PMID:28690485|PMID:29407415|PMID:29531335|PMID:30311386|PMID:30394532|PMID:34142234|PMID:34997062|PMID:38844942|PMID:8659547
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:10123	pigmentation disease		ISO	RGD:735982	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9158138
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:1059	intellectual disability		ISO	RGD:735982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:10578055|PMID:10851256|PMID:18510545|PMID:20127975|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25433395|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26892650|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:36863448|PMID:37635363|PMID:38439523|PMID:666627|PMID:9158138|PMID:9279758
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:735982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:10578055|PMID:18510545|PMID:20127975|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25433395|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26892650|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:36863448|PMID:37635363|PMID:38439523|PMID:666627|PMID:9158138|PMID:9279758
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:1115	sarcoma		ISO	RGD:735982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:11830	myopia		ISO	RGD:735982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:10578055|PMID:18510545|PMID:20127975|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25433395|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26892650|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:36863448|PMID:37635363|PMID:38439523|PMID:666627|PMID:9158138|PMID:9279758
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:12176	goiter		ISO	RGD:735982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:25741868|PMID:28492532
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:13533	osteopetrosis		ISO	RGD:735983	D	RGD:9068941	20220825	MouseDO			
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:14021	Tietze's syndrome		ISO	RGD:735982	D	RGD:9068941	20200609	RGD			PMID:10851256|REF_RGD_ID:1599943
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:1596	depressive disorder		ISO	RGD:735982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:1612	breast cancer		ISO	RGD:735982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:1891	optic nerve disease		ISO	RGD:735982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:10578055|PMID:18510545|PMID:20127975|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25433395|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26892650|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:36863448|PMID:37635363|PMID:38439523|PMID:666627|PMID:9158138|PMID:9279758
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:1909	melanoma		ISO	RGD:735982	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:1909	melanoma		ISO	RGD:735982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:10578055|PMID:18510545|PMID:20127975|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25433395|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26892650|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:27889061|PMID:27993330|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31123060|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:36863448|PMID:37635363|PMID:38439523|PMID:666627|PMID:9158138|PMID:9279758
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:2030	anxiety disorder		ISO	RGD:735982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:735982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:10578055|PMID:18510545|PMID:20127975|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25433395|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26892650|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:36863448|PMID:37635363|PMID:38439523|PMID:666627|PMID:9158138|PMID:9279758
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:3144	cutis laxa		ISO	RGD:735982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:25741868|PMID:28492532
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:3459	breast carcinoma		ISO	RGD:735982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:10578055|PMID:18510545|PMID:20127975|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25433395|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26892650|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:36863448|PMID:37635363|PMID:38439523|PMID:666627|PMID:9158138|PMID:9279758
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:3627	aortic aneurysm		ISO	RGD:735982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm	PMID:25741868|PMID:8659547
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:4450	renal cell carcinoma		ISO	RGD:735982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cell carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:4997	Camurati-Engelmann disease		ISO	RGD:735983	D	RGD:9068941	20220825	MouseDO		OMIM:131300 | OMIM:606631	
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:5041	esophageal cancer		ISO	RGD:735982	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:6846	familial melanoma		ISO	RGD:735982	D	RGD:7240710	20260715	OMIM			
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:6846	familial melanoma		ISO	RGD:735982	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO	PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28376192|PMID:28492532|PMID:29706638|PMID:30414346
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:6846	familial melanoma		ISO	RGD:735982	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:17576681|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:9536098
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:6846	familial melanoma		ISO	RGD:735982	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:10587587|PMID:17576681|PMID:20127975|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26850479|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28690485|PMID:28825054|PMID:29115496|PMID:29484430|PMID:29506128|PMID:29625052|PMID:29706638|PMID:30311386|PMID:30414346|PMID:31465090|PMID:32054529|PMID:32728090|PMID:33051548|PMID:33240314|PMID:34142234|PMID:34289891|PMID:34662886|PMID:34997062|PMID:36451132|PMID:8589691|PMID:8659547|PMID:9536098
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:6846	familial melanoma		ISO	RGD:735982	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:10587587|PMID:17576681|PMID:20127975|PMID:20478267|PMID:22012259|PMID:22080950|PMID:22158021|PMID:22320238|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24194866|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26850479|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28690485|PMID:28825054|PMID:29115496|PMID:29407415|PMID:29484430|PMID:29506128|PMID:29531335|PMID:29625052|PMID:29706638|PMID:30311386|PMID:30394532|PMID:30414346|PMID:31465090|PMID:32054529|PMID:32728090|PMID:33051548|PMID:33240314|PMID:34142234|PMID:34289891|PMID:34662886|PMID:34997062|PMID:36451132|PMID:8589691|PMID:8659547|PMID:9536098
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:6846	familial melanoma		ISO	RGD:735982	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:10587587|PMID:17576681|PMID:20127975|PMID:20478267|PMID:22012259|PMID:22080950|PMID:22158021|PMID:22320238|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24194866|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26850479|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:27759048|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28690485|PMID:28825054|PMID:29115496|PMID:29407415|PMID:29484430|PMID:29506128|PMID:29531335|PMID:29625052|PMID:29706638|PMID:30311386|PMID:30394532|PMID:30414346|PMID:31465090|PMID:32054529|PMID:32728090|PMID:33051548|PMID:33240314|PMID:34142234|PMID:34289891|PMID:34662886|PMID:34997062|PMID:36451132|PMID:8589691|PMID:8659547|PMID:9536098
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:6846	familial melanoma		ISO	RGD:735982	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:10587587|PMID:15284851|PMID:17576681|PMID:20127975|PMID:20478267|PMID:22012259|PMID:22080950|PMID:22158021|PMID:22320238|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24194866|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26850479|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:27759048|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28690485|PMID:28825054|PMID:29115496|PMID:29407415|PMID:29484430|PMID:29506128|PMID:29531335|PMID:29625052|PMID:29706638|PMID:30311386|PMID:30394532|PMID:30414346|PMID:30978479|PMID:31465090|PMID:32054529|PMID:32728090|PMID:33051548|PMID:33240314|PMID:34142234|PMID:34289891|PMID:34662886|PMID:34997062|PMID:36451132|PMID:37635363|PMID:8589691|PMID:8659547|PMID:9536098
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:6846	familial melanoma		ISO	RGD:735982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:10578055|PMID:10587587|PMID:10694430|PMID:15284851|PMID:16199547|PMID:17318840|PMID:17576681|PMID:18510545|PMID:20127975|PMID:20478267|PMID:22012259|PMID:22080950|PMID:22158021|PMID:22258527|PMID:22320238|PMID:23167872|PMID:23512835|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24194866|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25433395|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26850479|PMID:26892650|PMID:26999813|PMID:27057829|PMID:27153395|PMID:27349893|PMID:27473757|PMID:27680874|PMID:27759048|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28690485|PMID:28825054|PMID:29115496|PMID:29407415|PMID:29484430|PMID:29506128|PMID:29531335|PMID:29625052|PMID:29706638|PMID:30311386|PMID:30394532|PMID:30414346|PMID:30936914|PMID:30978479|PMID:31130284|PMID:31213145|PMID:31427586|PMID:31465090|PMID:31541171|PMID:31898538|PMID:32005694|PMID:32013026|PMID:32054529|PMID:32685391|PMID:32728090|PMID:33051548|PMID:33111345|PMID:33229591|PMID:33240314|PMID:33724713|PMID:34142234|PMID:34289891|PMID:34416374|PMID:34599368|PMID:34662886|PMID:34997062|PMID:36451132|PMID:36515421|PMID:36863448|PMID:37217689|PMID:37635363|PMID:38374194|PMID:38439523|PMID:38833603|PMID:38844942|PMID:38965328|PMID:39107234|PMID:666627|PMID:7874167|PMID:7874168|PMID:8589691|PMID:8659547|PMID:9158138|PMID:9279758|PMID:9499424|PMID:9536098
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:6846	familial melanoma		ISO	RGD:735982	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:10587587|PMID:10694430|PMID:15284851|PMID:16199547|PMID:17318840|PMID:17576681|PMID:20127975|PMID:20478267|PMID:22258527|PMID:22320238|PMID:23512835|PMID:23787126|PMID:24033266|PMID:24194866|PMID:24767713|PMID:25741868|PMID:26467025|PMID:26850479|PMID:27057829|PMID:27349893|PMID:27759048|PMID:27889061|PMID:28492532|PMID:28690485|PMID:29115496|PMID:29407415|PMID:29484430|PMID:29531335|PMID:29625052|PMID:30311386|PMID:30394532|PMID:30936914|PMID:30978479|PMID:31130284|PMID:31213145|PMID:31427586|PMID:31541171|PMID:31898538|PMID:32005694|PMID:32013026|PMID:32685391|PMID:32728090|PMID:33111345|PMID:33229591|PMID:33724713|PMID:34142234|PMID:34416374|PMID:34599368|PMID:34997062|PMID:36451132|PMID:36515421|PMID:37217689|PMID:38374194|PMID:38833603|PMID:38844942|PMID:38965328|PMID:39107234|PMID:7874167|PMID:7874168|PMID:8589691|PMID:8659547|PMID:9279758|PMID:9499424|PMID:9536098
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:7998	hyperthyroidism		ISO	RGD:735982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:8923	skin melanoma		ISO	RGD:735982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:10578055|PMID:18510545|PMID:20127975|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25433395|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26892650|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:36863448|PMID:37635363|PMID:38439523|PMID:666627|PMID:9158138|PMID:9279758
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:735982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:10578055|PMID:18510545|PMID:20127975|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25433395|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26892650|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:36863448|PMID:37635363|PMID:38439523|PMID:666627|PMID:9158138|PMID:9279758
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9000714	COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS		ISO	RGD:735982	D	RGD:7240710	20260715	OMIM			
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9000714	COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS		ISO	RGD:735982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS | ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	PMID:10578055|PMID:16199547|PMID:18510545|PMID:20127975|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25433395|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26892650|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:27759048|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30311386|PMID:30414346|PMID:30978479|PMID:31465090|PMID:31898538|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34599368|PMID:34662886|PMID:36863448|PMID:37635363|PMID:38374194|PMID:38439523|PMID:666627|PMID:8659547|PMID:9158138|PMID:9279758
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9001386	Albinism		ISO	RGD:735982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albinism	PMID:25741868|PMID:28492532
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9001581	Constipation		ISO	RGD:735982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:10578055|PMID:18510545|PMID:20127975|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25433395|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26892650|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:36863448|PMID:37635363|PMID:38439523|PMID:666627|PMID:9158138|PMID:9279758
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9001733	Tinnitus		ISO	RGD:735982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:735982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple | ClinVar Annotator: match by term: multiple cafe-au-lait spots	PMID:25741868|PMID:28492532
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:735982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Renal neoplasm	PMID:10578055|PMID:18510545|PMID:20127975|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25433395|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26892650|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:36863448|PMID:37635363|PMID:38439523|PMID:666627|PMID:9158138|PMID:9279758
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9002843	Waardenburg Syndrome Type 2		ISO	RGD:735982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Waardenburg syndrome type 2	PMID:15284851|PMID:17576681|PMID:20127975|PMID:21373256|PMID:24033266|PMID:25741868|PMID:27759048|PMID:28492532|PMID:30117279|PMID:30394532|PMID:34142234|PMID:35802133|PMID:36633841|PMID:38391765|PMID:38965328|PMID:39107234|PMID:7874167|PMID:7874168|PMID:8659547|PMID:9499424|PMID:9536098
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9004538	Hearing Loss		ISO	RGD:735982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss	PMID:16199547|PMID:20127975|PMID:20478267|PMID:22320238|PMID:24194866|PMID:25741868|PMID:28492532|PMID:28690485|PMID:29407415|PMID:29484430|PMID:29531335|PMID:30311386|PMID:30394532|PMID:31541171|PMID:31898538|PMID:32013026|PMID:33724713|PMID:34142234|PMID:34997062|PMID:38844942|PMID:8659547|PMID:9856573
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9004538	Hearing Loss		ISO	RGD:735982	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss	PMID:16199547|PMID:20127975|PMID:20478267|PMID:22320238|PMID:24194866|PMID:25741868|PMID:28492532|PMID:28690485|PMID:29407415|PMID:29484430|PMID:29531335|PMID:30311386|PMID:30394532|PMID:31541171|PMID:31898538|PMID:32013026|PMID:33724713|PMID:34142234|PMID:34997062|PMID:38844942|PMID:8659547
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735982	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33240314
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735982	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735982	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17576681|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:9536098
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735982	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:37635363|PMID:9536098
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10578055|PMID:17576681|PMID:18510545|PMID:20127975|PMID:20478267|PMID:22012259|PMID:22080950|PMID:22158021|PMID:22320238|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24194866|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25433395|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26892650|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29407415|PMID:29506128|PMID:29531335|PMID:29706638|PMID:30394532|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:36863448|PMID:37635363|PMID:38439523|PMID:38844942|PMID:666627|PMID:8659547|PMID:9158138|PMID:9279758|PMID:9536098
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9007388	Heterochromia Iridis		ISO	RGD:735982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heterochromia iridis	PMID:16199547|PMID:20127975|PMID:25741868|PMID:28492532|PMID:29484430|PMID:30394532|PMID:31541171|PMID:32013026|PMID:33724713|PMID:34142234|PMID:8659547
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:735982	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25401301
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:735982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9008681	Deafness		ISO	RGD:735982	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9158138
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9258	Waardenburg syndrome		ISO	RGD:735982	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Waardenburg syndrome	PMID:30311386
8759671	Mitf	melanocyte inducing transcription factor	gene	DOID:9834	hyperopia		ISO	RGD:735982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:10578055|PMID:18510545|PMID:20127975|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25433395|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26892650|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:36863448|PMID:37635363|PMID:38439523|PMID:666627|PMID:9158138|PMID:9279758
8759701	Parp16	poly(ADP-ribose) polymerase family member 16	gene	DOID:1324	lung cancer		ISO	RGD:1350046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8759701	Parp16	poly(ADP-ribose) polymerase family member 16	gene	DOID:4362	cervical cancer		ISO	RGD:1350046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8759701	Parp16	poly(ADP-ribose) polymerase family member 16	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8759701	Parp16	poly(ADP-ribose) polymerase family member 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759701	Parp16	poly(ADP-ribose) polymerase family member 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759711	Ltap1	lipid transport auxiliary protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8759711	Ltap1	lipid transport auxiliary protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1603678	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8759711	Ltap1	lipid transport auxiliary protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8759711	Ltap1	lipid transport auxiliary protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8759711	Ltap1	lipid transport auxiliary protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1603678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8759711	Ltap1	lipid transport auxiliary protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8759711	Ltap1	lipid transport auxiliary protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759711	Ltap1	lipid transport auxiliary protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759711	Ltap1	lipid transport auxiliary protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:0050581	brachydactyly		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:24033266|PMID:25741868|PMID:28492532
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:0050591	tooth agenesis		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypodontia | ClinVar Annotator: match by term: Oligodontia	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254|PMID:37009414|PMID:39333051
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrioventricular septal defect	PMID:24033266|PMID:25741868|PMID:28492532
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:0060249	scoliosis		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:0110540	autosomal recessive nonsyndromic deafness 98		ISO	RGD:1344496	D	RGD:7240710	20180130	OMIM			
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:0110540	autosomal recessive nonsyndromic deafness 98		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 98	PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:27736875|PMID:28409725|PMID:28492532|PMID:29144512|PMID:30046887|PMID:33144682|PMID:34042254|PMID:37009414|PMID:37853563
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:0111428	essential tremor 1		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:24033266|PMID:25741868|PMID:28492532
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:0111662	ectodermal dysplasia 14		ISO	RGD:1344496	D	RGD:7240710	20190315	OMIM			
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:0111662	ectodermal dysplasia 14		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE, WITH HYPOHIDROSIS | ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	PMID:22678063|PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:27736875|PMID:28409725|PMID:28492532|PMID:29144512|PMID:30046887|PMID:30544257|PMID:32112661|PMID:33144682|PMID:34042254|PMID:34556655|PMID:37009414|PMID:37853563|PMID:39333051|PMID:41163957
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532|PMID:34042254
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:11155	hypohidrosis		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:11156	anhidrosis		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anhidrosis	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:12450	pancytopenia		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:1283	enterocele		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:13620	patent foramen ovale		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:13714	anodontia		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypodontia	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:1588	thrombocytopenia		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:1826	epilepsy		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:1909	melanoma		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia	PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:27736875|PMID:28409725|PMID:28492532|PMID:29144512|PMID:30046887|PMID:33144682|PMID:34042254|PMID:35741818|PMID:37009414|PMID:37853563|PMID:39333051
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:2841	asthma		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:4535	hypotrichosis		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotrichosis	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:543	dystonia		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:630	genetic disease		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22678063|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:630	genetic disease		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22678063|PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:27736875|PMID:28409725|PMID:28492532|PMID:29144512|PMID:30046887|PMID:30544257|PMID:32112661|PMID:33144682|PMID:34042254|PMID:37009414|PMID:37853563|PMID:39333051
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:8927	learning disability		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:24033266|PMID:25741868|PMID:28492532
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9001031	Retrognathia		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9003044	Selective Tooth Agenesis 10		ISO	RGD:1344496	D	RGD:7240710	20230104	OMIM			
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9003044	Selective Tooth Agenesis 10		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 10 | ClinVar Annotator: match by term: Tooth agenesis, selective, 10	PMID:22678063|PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:27736875|PMID:28409725|PMID:28492532|PMID:29144512|PMID:30046887|PMID:30544257|PMID:32112661|PMID:33144682|PMID:34042254|PMID:37009414|PMID:37853563|PMID:41163957
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9003098	Taurodontism		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Taurodontism	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9004538	Hearing Loss		ISO	RGD:1344496	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:30311386
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9006617	Fatigue		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9007661	Dwarfism		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:24033266|PMID:25741868|PMID:28492532
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24033266|PMID:25741868|PMID:28492532
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9008421	Epistaxis		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9008675	Dyskinesias		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:93	language disorder		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:24033266|PMID:25741868|PMID:28492532
8759728	Tspear	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9840	esotropia		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:24033266|PMID:25741868|PMID:28492532
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:0080754	X-linked keratosis follicularis spinulosa decalvans		ISO	RGD:1342985	D	RGD:7240710	20180130	OMIM			
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:0080754	X-linked keratosis follicularis spinulosa decalvans		ISO	RGD:1342985	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED | ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked	PMID:20672378|PMID:20854407|PMID:25741868|PMID:28492532|PMID:33743732
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:0111821	ichthyosis follicularis-alopecia-photophobia syndrome 1		ISO	RGD:1342985	D	RGD:7240710	20180130	OMIM			
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:0111821	ichthyosis follicularis-alopecia-photophobia syndrome 1		ISO	RGD:1342985	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IFAP SYNDROME 1 | ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome | ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome	PMID:25741868|PMID:28492532|PMID:34946966
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:0111847	osteogenesis imperfecta type 19		ISO	RGD:1342985	D	RGD:7240710	20190315	OMIM			
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:0111847	osteogenesis imperfecta type 19		ISO	RGD:1342985	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XIX | ClinVar Annotator: match by term: Osteogenesis imperfecta, type 19	PMID:25741868|PMID:27380894
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:0112012	X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques		ISO	RGD:1342985	D	RGD:7240710	20180130	OMIM			
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:0112012	X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques		ISO	RGD:1342985	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Olmsted syndrome, X-linked	PMID:25741868|PMID:28492532
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive sensorineural hearing impairment	PMID:25741868|PMID:28492532
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:1059	intellectual disability		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:10907	microcephaly		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:1115	sarcoma		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1342985	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:25741868|PMID:28492532
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:1682	congenital heart disease		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:28492532
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:3275	thymoma		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:4362	cervical cancer		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1342985	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:630	genetic disease		ISO	RGD:1342985	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342985	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14563831
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:28492532
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:9000972	Fever		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	PMID:28492532
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:9001031	Retrognathia		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:28492532
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Wheezing	PMID:28492532
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8759748	Mbtps2	membrane bound transcription factor peptidase, site 2	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:25741868|PMID:28492532
8759769	Tmem64	transmembrane protein 64	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8759769	Tmem64	transmembrane protein 64	gene	DOID:1115	sarcoma		ISO	RGD:1606436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8759769	Tmem64	transmembrane protein 64	gene	DOID:4362	cervical cancer		ISO	RGD:1606436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8759769	Tmem64	transmembrane protein 64	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8759777	Dusp15	dual specificity phosphatase 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8759777	Dusp15	dual specificity phosphatase 15	gene	DOID:1909	melanoma		ISO	RGD:1314347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8759777	Dusp15	dual specificity phosphatase 15	gene	DOID:3275	thymoma		ISO	RGD:1314347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8759777	Dusp15	dual specificity phosphatase 15	gene	DOID:4362	cervical cancer		ISO	RGD:1314347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8759777	Dusp15	dual specificity phosphatase 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759777	Dusp15	dual specificity phosphatase 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8759788	S100a16	S100 calcium binding protein A16	gene	DOID:1909	melanoma		ISO	RGD:1315577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8759788	S100a16	S100 calcium binding protein A16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759798	Mok	MOK protein kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319529	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8759798	Mok	MOK protein kinase	gene	DOID:0111402	mucopolysaccharidosis type IIID		ISO	RGD:1319529	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D	PMID:25741868
8759798	Mok	MOK protein kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8759798	Mok	MOK protein kinase	gene	DOID:1115	sarcoma		ISO	RGD:1319529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8759798	Mok	MOK protein kinase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1319529	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:15900605|REF_RGD_ID:7243170
8759798	Mok	MOK protein kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759798	Mok	MOK protein kinase	gene	DOID:6039	uveal melanoma		ISO	RGD:1319529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8759798	Mok	MOK protein kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319529	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8759798	Mok	MOK protein kinase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1319529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8759798	Mok	MOK protein kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759798	Mok	MOK protein kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8759798	Mok	MOK protein kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:1319529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8759817	Irgm	immunity related GTPase M	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1601797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192919
8759817	Irgm	immunity related GTPase M	gene	DOID:0110890	inflammatory bowel disease 19		ISO	RGD:1601797	D	RGD:7240710	20180130	OMIM			
8759817	Irgm	immunity related GTPase M	gene	DOID:0110890	inflammatory bowel disease 19		ISO	RGD:1601797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IRGM-related condition	
8759817	Irgm	immunity related GTPase M	gene	DOID:1115	sarcoma		ISO	RGD:1601797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8759817	Irgm	immunity related GTPase M	gene	DOID:399	tuberculosis		ISO	RGD:1601797	D	RGD:7240710	20230505	OMIM			
8759817	Irgm	immunity related GTPase M	gene	DOID:8577	ulcerative colitis		ISO	RGD:1601797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20228799
8759817	Irgm	immunity related GTPase M	gene	DOID:8778	Crohn's disease		ISO	RGD:1601797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17554261|PMID:18438406|PMID:19165925|PMID:21278745
8759817	Irgm	immunity related GTPase M	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8759834	Nudt21	nudix hydrolase 21	gene	DOID:1324	lung cancer		ISO	RGD:1313996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8759834	Nudt21	nudix hydrolase 21	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1313996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8759834	Nudt21	nudix hydrolase 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759834	Nudt21	nudix hydrolase 21	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1313996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:0050696	fetal alcohol spectrum disorder	sexual_dimorphism	ISO	RGD:61276	D	RGD:9068941	20240215	RGD		associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat)	PMID:29251811|REF_RGD_ID:401965484
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:10763	hypertension		ISO	RGD:61276	D	RGD:9068941	20200609	RGD		corticotropin releasing hormone-induced	PMID:11036160|REF_RGD_ID:1581302
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:12918	thromboangiitis obliterans		ISO	RGD:61276	D	RGD:9068941	20200609	RGD		mRNA:increased expression:femoral artery (rat)	PMID:19572944|REF_RGD_ID:5508315
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:1470	major depressive disorder		ISO	RGD:734061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23529111
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:730851	D	RGD:9068941	20250802	RGD		associated with schizophrenia;DNA:SNP: :rs110402	PMID:21810631|REF_RGD_ID:617302489
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:737026	D	RGD:9068941	20200609	RGD			PMID:11988580|REF_RGD_ID:734822
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:1574	alcohol use disorder	sexual_dimorphism	ISO	RGD:737026	D	RGD:9068941	20250802	RGD		protein:increased expression:medial prefrontal cortex	PMID:35645747|REF_RGD_ID:617302495
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:1596	depressive disorder		ISO	RGD:61276	D	RGD:9068941	20200609	RGD			PMID:20860876|REF_RGD_ID:5147490
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:2030	anxiety disorder		ISO	RGD:734061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22231481|PMID:9299637
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:2773	contact dermatitis		ISO	RGD:734061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12631246
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:2841	asthma		ISO	RGD:734061	D	RGD:9068941	20200609	RGD		DNA:SNP: :RS242941 (human)	PMID:19663668|REF_RGD_ID:5147485
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:2841	asthma		ISO	RGD:734061	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs1876828, rs242939, rs242941 (human)	PMID:16113459|REF_RGD_ID:5147488
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:3083	chronic obstructive pulmonary disease	treatment	ISO	RGD:734061	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: (rs242941) (human)	PMID:19210659|REF_RGD_ID:11097322
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:3877	functional colonic disease		ISO	RGD:61276	D	RGD:9068941	20200609	RGD			PMID:20096320|REF_RGD_ID:5130948
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:4483	rhinitis		ISO	RGD:734061	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:nasal cavity epithelium	PMID:17597629|REF_RGD_ID:5130940
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:9001109	Anorexia		ISO	RGD:734061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16420149
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:9001131	stress-related disorder	sexual_dimorphism	ISO	RGD:61276	D	RGD:9068941	20240215	RGD		associated with prenatal exposure delayed effects; mRNA:altered expression: hippocampus (rat)	PMID:29251811|REF_RGD_ID:401965484
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:9001131	stress-related disorder	sexual_dimorphism	ISO	RGD:61276	D	RGD:9068941	20240222	RGD		mRNA:altered expr:brain (rat)	PMID:29990678|REF_RGD_ID:401976282
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	ISO	RGD:61276	D	RGD:9068941	20240222	RGD		mRNA:altered expr:brain (rat)	PMID:29990678|REF_RGD_ID:401976282
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:737026	D	RGD:9068941	20200609	RGD			PMID:21774994|REF_RGD_ID:5147472
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:734061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28434951
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:9002362	Hyperkinesis		ISO	RGD:734061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19339610
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:61276	D	RGD:9068941	20200609	RGD			PMID:17550594|REF_RGD_ID:1626231
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:9003971	Postoperative Pain		ISO	RGD:734061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28434951
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:61276	D	RGD:9068941	20200609	RGD		mRNA:increased expression:anterior pituitary (rat)	PMID:12576179|REF_RGD_ID:5508175
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:734061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19339610
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:734061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30664745
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:9006302	Binge Drinking		ISO	RGD:61276	D	RGD:9068941	20240815	RGD		mRNA:decreased expression:adenohypophysis	PMID:11045867|REF_RGD_ID:407431640
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:9007877	Fetal Hypoxia		ISO	RGD:61276	D	RGD:9068941	20200609	RGD		protein:increased expression:paraventricular nucleus of hypothalamus (rat)	PMID:19409200|REF_RGD_ID:5491006
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:734061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:61276	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hypothalamus (rat)	PMID:20472052|REF_RGD_ID:5507823
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:9778	irritable bowel syndrome		ISO	RGD:61276	D	RGD:9068941	20200609	RGD		protein:increased expression:distal colon (rat)	PMID:20096320|REF_RGD_ID:5130948
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:9970	obesity		ISO	RGD:734061	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:861C>T (human)	PMID:14724656|REF_RGD_ID:1626226
8759849	Crhr1	corticotropin releasing hormone receptor 1	gene	DOID:9976	heroin dependence		ISO	RGD:61276	D	RGD:9068941	20250802	RGD		mRNA:increased expression:hippocampus, medial prefrontal cortex, ventral tegmental area	PMID:26655889|REF_RGD_ID:617302493
8759866	Atg7	autophagy related 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8759866	Atg7	autophagy related 7	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1558502	D	RGD:9068941	20220825	MouseDO		OMIM:614286	
8759866	Atg7	autophagy related 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8759866	Atg7	autophagy related 7	gene	DOID:0060319	cardiac arrest	ameliorates	ISO	RGD:1304817	D	RGD:9068941	20240912	RGD			PMID:26071643|REF_RGD_ID:407532703
8759866	Atg7	autophagy related 7	gene	DOID:0070412	autosomal recessive spinocerebellar ataxia 31		ISO	RGD:1312481	D	RGD:7240710	20210728	OMIM			
8759866	Atg7	autophagy related 7	gene	DOID:0070412	autosomal recessive spinocerebellar ataxia 31		ISO	RGD:1312481	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31 | ClinVar Annotator: match by term: spinocerebellar ataxia, autosomal recessive 31	PMID:25741868|PMID:34161705|PMID:35725745
8759866	Atg7	autophagy related 7	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	ameliorates	ISO	RGD:1558502	D	RGD:9068941	20240822	RGD			PMID:34303881|REF_RGD_ID:407445922
8759866	Atg7	autophagy related 7	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	exacerbates	ISO	RGD:1558502	D	RGD:9068941	20240822	RGD			PMID:31235522|REF_RGD_ID:407445921
8759866	Atg7	autophagy related 7	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:1558502	D	RGD:9068941	20240829	RGD		protein:increased expression:liver	PMID:31090940|REF_RGD_ID:407445926
8759866	Atg7	autophagy related 7	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:1304817	D	RGD:9068941	20240822	RGD			PMID:31787541|REF_RGD_ID:25823196
8759866	Atg7	autophagy related 7	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:1304817	D	RGD:9068941	20240912	RGD			PMID:34052187|REF_RGD_ID:407532640
8759866	Atg7	autophagy related 7	gene	DOID:10534	stomach cancer		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8759866	Atg7	autophagy related 7	gene	DOID:10763	hypertension		ISO	RGD:1304817	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle	PMID:24119246|REF_RGD_ID:11557985
8759866	Atg7	autophagy related 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8759866	Atg7	autophagy related 7	gene	DOID:12351	alcoholic hepatitis		ISO	RGD:1558502	D	RGD:9068941	20240829	RGD		protein:increased expression:liver	PMID:31090940|REF_RGD_ID:407445926
8759866	Atg7	autophagy related 7	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:1558502	D	RGD:9068941	20240912	RGD			PMID:36308627|REF_RGD_ID:407532639
8759866	Atg7	autophagy related 7	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1304817	D	RGD:9068941	20200609	RGD			PMID:26208597|REF_RGD_ID:11557995
8759866	Atg7	autophagy related 7	gene	DOID:12935	alcoholic cardiomyopathy	treatment	ISO	RGD:1558502	D	RGD:9068941	20240912	RGD			PMID:29039471|REF_RGD_ID:407532638
8759866	Atg7	autophagy related 7	gene	DOID:14330	Parkinson's disease		ISO	RGD:1558502	D	RGD:9068941	20220825	MouseDO		OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251	
8759866	Atg7	autophagy related 7	gene	DOID:1909	melanoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8759866	Atg7	autophagy related 7	gene	DOID:2355	anemia		ISO	RGD:1312481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
8759866	Atg7	autophagy related 7	gene	DOID:3070	high grade glioma	treatment	ISO	RGD:1304817	D	RGD:9068941	20200609	RGD			PMID:25542083|REF_RGD_ID:11557994
8759866	Atg7	autophagy related 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8759866	Atg7	autophagy related 7	gene	DOID:4362	cervical cancer		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8759866	Atg7	autophagy related 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8759866	Atg7	autophagy related 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1312481	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8759866	Atg7	autophagy related 7	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1312481	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
8759866	Atg7	autophagy related 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8759866	Atg7	autophagy related 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759866	Atg7	autophagy related 7	gene	DOID:5844	myocardial infarction		ISO	RGD:1304817	D	RGD:9068941	20200609	RGD		mRNA:increased expression:plantaris	PMID:24427319|REF_RGD_ID:11557988
8759866	Atg7	autophagy related 7	gene	DOID:607	paraplegia		ISO	RGD:1304817	D	RGD:9068941	20200609	RGD			PMID:23055316|REF_RGD_ID:11557990
8759866	Atg7	autophagy related 7	gene	DOID:614	lymphopenia		ISO	RGD:1312481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
8759866	Atg7	autophagy related 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8759866	Atg7	autophagy related 7	gene	DOID:8466	retinal degeneration	exacerbates	ISO	RGD:1558502	D	RGD:9068941	20240829	RGD			PMID:23341467|REF_RGD_ID:407445924
8759866	Atg7	autophagy related 7	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1304817	D	RGD:9068941	20241024	RGD		associated with type 2 diabetes mellitus; protein:decreased, altered expression:retina	PMID:32272782|REF_RGD_ID:407571700
8759866	Atg7	autophagy related 7	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1558502	D	RGD:9068941	20241024	RGD		associated with type 1 diabetes mellitus;protein:decreased, altered expression:retina	PMID:32272782|REF_RGD_ID:407571700
8759866	Atg7	autophagy related 7	gene	DOID:90	degenerative disc disease	ameliorates	ISO	RGD:1304817	D	RGD:9068941	20240926	RGD			PMID:33372336|REF_RGD_ID:407571673
8759866	Atg7	autophagy related 7	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1304817	D	RGD:9068941	20200609	RGD		protein:increased expression:axon	PMID:25040536|REF_RGD_ID:11553820
8759866	Atg7	autophagy related 7	gene	DOID:9001981	Weight Loss		ISO	RGD:1312481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
8759866	Atg7	autophagy related 7	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:1558502	D	RGD:9068941	20230701	RGD			PMID:34400126|REF_RGD_ID:329902072
8759866	Atg7	autophagy related 7	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1312481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28408137
8759866	Atg7	autophagy related 7	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1312481	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:26483381
8759866	Atg7	autophagy related 7	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1558502	D	RGD:9068941	20200609	RGD		protein:decreased expression:myocardium	PMID:24874076|REF_RGD_ID:11557993
8759866	Atg7	autophagy related 7	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:1304817	D	RGD:9068941	20200609	RGD			PMID:24993523|REF_RGD_ID:11557996
8759866	Atg7	autophagy related 7	gene	DOID:9005749	Necrosis		ISO	RGD:1312481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21081844
8759866	Atg7	autophagy related 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759866	Atg7	autophagy related 7	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1312481	D	RGD:9068941	20260507	CTD		CTD Direct Evidence: therapeutic	PMID:40578406
8759866	Atg7	autophagy related 7	gene	DOID:9007874	Liver Failure		ISO	RGD:1312481	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:26483381
8759866	Atg7	autophagy related 7	gene	DOID:9008617	Lethargy		ISO	RGD:1312481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
8759866	Atg7	autophagy related 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8759866	Atg7	autophagy related 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8759889	Tamalin	trafficking regulator and scaffold protein tamalin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8759889	Tamalin	trafficking regulator and scaffold protein tamalin	gene	DOID:3070	high grade glioma		ISO	RGD:733545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8759889	Tamalin	trafficking regulator and scaffold protein tamalin	gene	DOID:5419	schizophrenia		ISO	RGD:70554	D	RGD:9068941	20250501	RGD		protein:decreased expression:dorsolateral prefrontal cortex	PMID:25778620|REF_RGD_ID:11054158
8759889	Tamalin	trafficking regulator and scaffold protein tamalin	gene	DOID:5419	schizophrenia		ISO	RGD:733545	D	RGD:9068941	20250501	RGD		protein:increased expression:CA1 field of hippocampus	PMID:26048293|REF_RGD_ID:11075927
8759889	Tamalin	trafficking regulator and scaffold protein tamalin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759889	Tamalin	trafficking regulator and scaffold protein tamalin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759915	Dock4	dedicator of cytokinesis 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8759915	Dock4	dedicator of cytokinesis 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8759915	Dock4	dedicator of cytokinesis 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1350295	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:20346443|PMID:25741868|PMID:31388105|PMID:32009906
8759915	Dock4	dedicator of cytokinesis 4	gene	DOID:10534	stomach cancer		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8759915	Dock4	dedicator of cytokinesis 4	gene	DOID:1115	sarcoma		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8759915	Dock4	dedicator of cytokinesis 4	gene	DOID:12849	autistic disorder		ISO	RGD:1350295	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:19401682
8759915	Dock4	dedicator of cytokinesis 4	gene	DOID:1324	lung cancer		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8759915	Dock4	dedicator of cytokinesis 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8759915	Dock4	dedicator of cytokinesis 4	gene	DOID:3070	high grade glioma		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8759915	Dock4	dedicator of cytokinesis 4	gene	DOID:3275	thymoma		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8759915	Dock4	dedicator of cytokinesis 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8759915	Dock4	dedicator of cytokinesis 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8759915	Dock4	dedicator of cytokinesis 4	gene	DOID:4362	cervical cancer		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8759915	Dock4	dedicator of cytokinesis 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8759915	Dock4	dedicator of cytokinesis 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1350295	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8759915	Dock4	dedicator of cytokinesis 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759915	Dock4	dedicator of cytokinesis 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8759915	Dock4	dedicator of cytokinesis 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350295	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8759915	Dock4	dedicator of cytokinesis 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:38526744
8759915	Dock4	dedicator of cytokinesis 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759915	Dock4	dedicator of cytokinesis 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8759915	Dock4	dedicator of cytokinesis 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8759983	Nipa2	NIPA magnesium transporter 2	gene	DOID:0070309	absence epilepsy		ISO	RGD:1348761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:22367439|PMID:25347071|PMID:25741868
8759983	Nipa2	NIPA magnesium transporter 2	gene	DOID:1826	epilepsy		ISO	RGD:1348761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22367439|PMID:25347071|PMID:25741868
8759983	Nipa2	NIPA magnesium transporter 2	gene	DOID:1909	melanoma		ISO	RGD:1348761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8759983	Nipa2	NIPA magnesium transporter 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348761	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8759983	Nipa2	NIPA magnesium transporter 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759983	Nipa2	NIPA magnesium transporter 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8759983	Nipa2	NIPA magnesium transporter 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8759997	Uroc1	urocanate hydratase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8759997	Uroc1	urocanate hydratase 1	gene	DOID:0112180	urocanase deficiency		ISO	RGD:1347314	D	RGD:7240710	20180130	OMIM			
8759997	Uroc1	urocanate hydratase 1	gene	DOID:0112180	urocanase deficiency		ISO	RGD:1347314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: UROC1-related condition | ClinVar Annotator: match by term: Urocanase deficiency | ClinVar Annotator: match by term: Urocanate hydratase deficiency	PMID:19304569|PMID:25741868|PMID:28492532
8759997	Uroc1	urocanate hydratase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8759997	Uroc1	urocanate hydratase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1347314	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19304569
8759997	Uroc1	urocanate hydratase 1	gene	DOID:1115	sarcoma		ISO	RGD:1347314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8759997	Uroc1	urocanate hydratase 1	gene	DOID:3275	thymoma		ISO	RGD:1347314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8759997	Uroc1	urocanate hydratase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347314	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8759997	Uroc1	urocanate hydratase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347314	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8759997	Uroc1	urocanate hydratase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8759997	Uroc1	urocanate hydratase 1	gene	DOID:9004866	Ataxia		ISO	RGD:1347314	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19304569
8759997	Uroc1	urocanate hydratase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8759997	Uroc1	urocanate hydratase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8760021	Foxa1	forkhead box A1	gene	DOID:0060108	brain glioma	disease_progression	ISO	RGD:1605727	D	RGD:9068941	20220331	RGD			PMID:23510544|REF_RGD_ID:151665742
8760021	Foxa1	forkhead box A1	gene	DOID:10534	stomach cancer		ISO	RGD:1605727	D	RGD:9068941	20220331	RGD		protein:decreased expression:stomach	PMID:29129808|REF_RGD_ID:151665756
8760021	Foxa1	forkhead box A1	gene	DOID:10534	stomach cancer	ameliorates	ISO	RGD:1354161	D	RGD:9068941	20220331	RGD			PMID:31046116|REF_RGD_ID:151665744
8760021	Foxa1	forkhead box A1	gene	DOID:10534	stomach cancer	ameliorates	ISO	RGD:1605727	D	RGD:9068941	20220331	RGD			PMID:29129808|REF_RGD_ID:151665756
8760021	Foxa1	forkhead box A1	gene	DOID:1115	sarcoma		ISO	RGD:1605727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8760021	Foxa1	forkhead box A1	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:1322513	D	RGD:9068941	20220407	RGD			PMID:31221478|REF_RGD_ID:151665930
8760021	Foxa1	forkhead box A1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1605727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:32888433|PMID:35101336
8760021	Foxa1	forkhead box A1	gene	DOID:1520	colon carcinoma	disease_progression	ISO	RGD:1605727	D	RGD:9068941	20220331	RGD			PMID:33296605|REF_RGD_ID:151665748
8760021	Foxa1	forkhead box A1	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1349130	D	RGD:9068941	20220407	RGD			PMID:27524420|REF_RGD_ID:151665821
8760021	Foxa1	forkhead box A1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1605727	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:32717239
8760021	Foxa1	forkhead box A1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605727	D	RGD:9068941	20220331	RGD		mRNA:decreased expression:colon	PMID:32839292|REF_RGD_ID:151665753
8760021	Foxa1	forkhead box A1	gene	DOID:3459	breast carcinoma	ameliorates	ISO	RGD:1349130	D	RGD:9068941	20220407	RGD			PMID:27524420|REF_RGD_ID:151665821
8760021	Foxa1	forkhead box A1	gene	DOID:3748	esophagus squamous cell carcinoma	onset	ISO	RGD:1605727	D	RGD:9068941	20220331	RGD			PMID:29788741|REF_RGD_ID:151665759
8760021	Foxa1	forkhead box A1	gene	DOID:3748	esophagus squamous cell carcinoma	onset	ISO	RGD:1605727	D	RGD:9068941	20220331	RGD		DNA:SNPs: :rs12894364 C>T, rs2145146 C>A (human)	PMID:27050876|REF_RGD_ID:151665743
8760021	Foxa1	forkhead box A1	gene	DOID:3905	lung carcinoma	ameliorates	ISO	RGD:1605727	D	RGD:9068941	20220407	RGD			PMID:31221478|REF_RGD_ID:151665930
8760021	Foxa1	forkhead box A1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1605727	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:32717239
8760021	Foxa1	forkhead box A1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1605727	D	RGD:9068941	20220331	RGD		mRNA:increased expression:lung	PMID:26909612|REF_RGD_ID:151665747
8760021	Foxa1	forkhead box A1	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1605727	D	RGD:9068941	20220407	RGD			PMID:26658322|REF_RGD_ID:11554787
8760021	Foxa1	forkhead box A1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1605727	D	RGD:9068941	20220407	RGD		mRNA:increased expression:lung	PMID:12234996|PMID:29072684|REF_RGD_ID:151665758|REF_RGD_ID:151665822
8760021	Foxa1	forkhead box A1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1605727	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34254728
8760021	Foxa1	forkhead box A1	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:1605727	D	RGD:9068941	20220331	RGD		protein:increased expression:esophagus	PMID:12234996|REF_RGD_ID:151665758
8760021	Foxa1	forkhead box A1	gene	DOID:5409	lung small cell carcinoma	disease_progression	ISO	RGD:1605727	D	RGD:9068941	20220331	RGD			PMID:22383183|REF_RGD_ID:151665760
8760021	Foxa1	forkhead box A1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8760021	Foxa1	forkhead box A1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1605727	D	RGD:9068941	20220331	RGD			PMID:25965836|REF_RGD_ID:11054501
8760021	Foxa1	forkhead box A1	gene	DOID:684	hepatocellular carcinoma	sexual_dimorphism	ISO	RGD:1605727	D	RGD:9068941	20220407	RGD		protein:decreased expression:liver	PMID:29208003|REF_RGD_ID:151665820
8760021	Foxa1	forkhead box A1	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1605727	D	RGD:9068941	20220331	RGD		DNA:VNTR, SNPs, haplotypes:multiple:	PMID:31400761|REF_RGD_ID:151665752
8760021	Foxa1	forkhead box A1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1605727	D	RGD:9068941	20220331	RGD		associated with lung non-small cell carcinoma; mRNA:increased expression: :	PMID:29115441|REF_RGD_ID:151665751
8760021	Foxa1	forkhead box A1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1605727	D	RGD:9068941	20200910	CTD		CTD Direct Evidence: marker/mechanism	PMID:22610119|PMID:26457646|PMID:29295717|PMID:29610475|PMID:32690948
8760021	Foxa1	forkhead box A1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:2807	D	RGD:9068941	20220331	RGD		mRNA,protein:increased expression:lung	PMID:19649697|REF_RGD_ID:151665511
8760021	Foxa1	forkhead box A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8760021	Foxa1	forkhead box A1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1605727	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:32717239
8760021	Foxa1	forkhead box A1	gene	DOID:9008138	Ductal Carcinoma		ISO	RGD:1605727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29295717
8760021	Foxa1	forkhead box A1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1605727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23001124
8760021	Foxa1	forkhead box A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8760021	Foxa1	forkhead box A1	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1605727	D	RGD:9068941	20220331	RGD			PMID:27484093|PMID:31081047|REF_RGD_ID:151665746|REF_RGD_ID:151665754
8760021	Foxa1	forkhead box A1	gene	DOID:9452	steatotic liver disease		ISO	RGD:1605727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24469900
8760026	Krt39	keratin 39	gene	DOID:1324	lung cancer		ISO	RGD:1604916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8760026	Krt39	keratin 39	gene	DOID:4362	cervical cancer		ISO	RGD:1604916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8760026	Krt39	keratin 39	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8760038	Abhd1	abhydrolase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760038	Abhd1	abhydrolase domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8760038	Abhd1	abhydrolase domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8760038	Abhd1	abhydrolase domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8760058	Eno3	enolase 3	gene	DOID:0061288	glycogen storage disease XIII		ISO	RGD:732414	D	RGD:7240710	20180130	OMIM			
8760058	Eno3	enolase 3	gene	DOID:0061288	glycogen storage disease XIII		ISO	RGD:732414	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ENO3-related condition | ClinVar Annotator: match by term: Enolase 3 deficiency | ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE XIII	PMID:25267339|PMID:25741868|PMID:28492532|PMID:33004838
8760058	Eno3	enolase 3	gene	DOID:11830	myopia		ISO	RGD:732414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
8760058	Eno3	enolase 3	gene	DOID:1712	aortic valve stenosis		ISO	RGD:2555	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:cardiac muscle cell	PMID:8594891|REF_RGD_ID:2301765
8760058	Eno3	enolase 3	gene	DOID:1909	melanoma		ISO	RGD:732414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8760058	Eno3	enolase 3	gene	DOID:3275	thymoma		ISO	RGD:732414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8760058	Eno3	enolase 3	gene	DOID:409	liver disease		ISO	RGD:732414	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
8760058	Eno3	enolase 3	gene	DOID:4362	cervical cancer		ISO	RGD:732414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8760058	Eno3	enolase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:732414	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25267339|PMID:25741868|PMID:28492532
8760058	Eno3	enolase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760058	Eno3	enolase 3	gene	DOID:6039	uveal melanoma		ISO	RGD:732414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:28492532
8760058	Eno3	enolase 3	gene	DOID:630	genetic disease		ISO	RGD:732414	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8760058	Eno3	enolase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8760058	Eno3	enolase 3	gene	DOID:7998	hyperthyroidism		ISO	RGD:732414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532
8760058	Eno3	enolase 3	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:732414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532
8760058	Eno3	enolase 3	gene	DOID:9001733	Tinnitus		ISO	RGD:732414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532
8760058	Eno3	enolase 3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:732414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
8760058	Eno3	enolase 3	gene	DOID:9007736	Vertigo		ISO	RGD:732414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532
8760058	Eno3	enolase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8760078	Aurkb	aurora kinase B	gene	DOID:0060058	lymphoma		ISO	RGD:731309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8760078	Aurkb	aurora kinase B	gene	DOID:0080600	COVID-19		ISO	RGD:731309	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8760078	Aurkb	aurora kinase B	gene	DOID:1324	lung cancer		ISO	RGD:731309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8760078	Aurkb	aurora kinase B	gene	DOID:2871	endometrial carcinoma	disease_progression	ISO	RGD:731309	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:endometrium	PMID:16311121|REF_RGD_ID:2293878
8760078	Aurkb	aurora kinase B	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:731309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
8760078	Aurkb	aurora kinase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760078	Aurkb	aurora kinase B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8760078	Aurkb	aurora kinase B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8760078	Aurkb	aurora kinase B	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:731309	D	RGD:9068941	20200609	RGD			PMID:16707419|REF_RGD_ID:2293877
8760078	Aurkb	aurora kinase B	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:731309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15993841
8760078	Aurkb	aurora kinase B	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:731309	D	RGD:9068941	20200609	RGD			PMID:16707419|REF_RGD_ID:2293877
8760078	Aurkb	aurora kinase B	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:731310	D	RGD:9068941	20200609	RGD			PMID:16707419|REF_RGD_ID:2293877
8760078	Aurkb	aurora kinase B	gene	DOID:9008350	NATURAL KILLER CELL ENTEROPATHY		ISO	RGD:731309	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Natural killer cell enteropathy	
8760078	Aurkb	aurora kinase B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8760078	Aurkb	aurora kinase B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8760097	Bmerb1	bMERB domain containing 1	gene	DOID:0080600	COVID-19		ISO	RGD:1345550	D	RGD:9068941	20200613	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8760097	Bmerb1	bMERB domain containing 1	gene	DOID:9000664	Familial Thoracic Aortic Aneurysm 4		ISO	RGD:26891515|RGD:26893177|RGD:26893562	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus	PMID:22318994|PMID:27884122|PMID:28492532|PMID:29179725
8760110	St6galnac3	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8760110	St6galnac3	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8760110	St6galnac3	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1345799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8760110	St6galnac3	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0050852	limb ischemia	treatment	ISO	RGD:620713	D	RGD:9068941	20200609	RGD			PMID:25388665|REF_RGD_ID:11568031
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0060260	ptosis		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:16757108|PMID:20536592|PMID:25741868|PMID:28492532|PMID:37833774
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:732291	D	RGD:9068941	20200609	RGD			PMID:21238647|REF_RGD_ID:11567270
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0060597	atypical chronic myeloid leukemia, BCR-ABL1 negative		ISO	RGD:732290	D	RGD:9068941	20200609	RGD			PMID:15050920|REF_RGD_ID:11352668
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0061238	Stargardt disease 3		ISO	RGD:732291	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:optic cup:	PMID:22199241|REF_RGD_ID:10402074
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:732290	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21936542|PMID:22875613
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:732290	D	RGD:9068941	20200609	RGD			PMID:12969958|REF_RGD_ID:11352667
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0070004	myeloid neoplasm	treatment	ISO	RGD:732290	D	RGD:9068941	20200609	RGD			PMID:15448205|REF_RGD_ID:11352309
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:732290	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:31474318
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	severity	ISO	RGD:732291	D	RGD:9068941	20200609	RGD			PMID:32195457|REF_RGD_ID:25330354
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0080395	orofacial cleft 1		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft 1	PMID:16757108|PMID:20536592|PMID:25741868|PMID:28492532|PMID:37833774
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27M-mutant	PMID:24880341|PMID:25230881|PMID:27993330|PMID:28912153|PMID:28966033|PMID:31348837
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0080829	low grade glioma		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Low grade glioma	PMID:23817572|PMID:26810070|PMID:27993330|PMID:28912153|PMID:29880043|PMID:31250151|PMID:32289278|PMID:32859279
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0081284	rosette-forming glioneuronal tumor		ISO	RGD:732290	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor	PMID:14602678|PMID:19224897|PMID:23334666|PMID:23817572|PMID:24436047|PMID:24705251|PMID:24880341|PMID:25230881|PMID:25741868|PMID:26121087|PMID:26179511|PMID:26810070|PMID:26822237|PMID:26920151|PMID:26942290|PMID:27626068|PMID:27993330|PMID:28912153|PMID:289660|PMID:28966033|PMID:29533785|PMID:29763623|PMID:29881993|PMID:30523111|PMID:31250151|PMID:31348837|PMID:31617914|PMID:32291395|PMID:32859279|PMID:33056981|PMID:34166060|PMID:34185076|PMID:34674226|PMID:35018490|PMID:35101336|PMID:35488346|PMID:36966138|PMID:36973454|PMID:37524847|PMID:39434542
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0081304	high-grade astrocytoma with piloid features		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High-grade astrocytoma with piloid features	PMID:27993330|PMID:29564591|PMID:31677015|PMID:36271929|PMID:36418240
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:732290	D	RGD:9068941	20200609	RGD			PMID:19506298|REF_RGD_ID:11352666
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:732290	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia	PMID:11297579|PMID:12627230|PMID:15845591|PMID:16764984|PMID:17154279|PMID:17200176|PMID:23643382|PMID:25636053|PMID:25741868|PMID:26207952|PMID:26467025|PMID:26708526|PMID:27502037|PMID:28492532|PMID:30098700|PMID:32666525|PMID:32853167|PMID:33548149|PMID:35738466
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0090071	hypogonadotropic hypogonadism 11 with or without anosmia		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11 with or without anosmia	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia		ISO	RGD:732290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism	PMID:12627230|PMID:17200176|PMID:24204987|PMID:25636053|PMID:25741868|PMID:26931467|PMID:28492532|PMID:32853167|PMID:33548149|PMID:36138264
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0090083	hypogonadotropic hypogonadism 2 with or without anosmia		ISO	RGD:732290	D	RGD:7240710	20180130	OMIM			
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0090083	hypogonadotropic hypogonadism 2 with or without anosmia		ISO	RGD:732290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA | ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia | ClinVar Annotator: match by term: Kallmann syndrome 2	PMID:10861678|PMID:10942429|PMID:11297579|PMID:12627230|PMID:1456217|PMID:14564217|PMID:14613973|PMID:15001591|PMID:15605412|PMID:15625620|PMID:15845591|PMID:16199547|PMID:16470795|PMID:16606836|PMID:16757108|PMID:16764984|PMID:16882753|PMID:16957473|PMID:17154279|PMID:17200176|PMID:17360555|PMID:17530415|PMID:17576681|PMID:18034870|PMID:18160472|PMID:18596921|PMID:18985070|PMID:19820032|PMID:20022991|PMID:20079901|PMID:20536592|PMID:20696889|PMID:21209029|PMID:21247312|PMID:21479780|PMID:22031817|PMID:22035731|PMID:22319038|PMID:23154428|PMID:23276709|PMID:23329143|PMID:23533228|PMID:23643382|PMID:23657145|PMID:23812909|PMID:24031091|PMID:24127277|PMID:24497711|PMID:24732674|PMID:24759409|PMID:25064402|PMID:25077900|PMID:25251565|PMID:25394172|PMID:25425165|PMID:25497574|PMID:25501157|PMID:25636053|PMID:25741868|PMID:26051373|PMID:26199944|PMID:26207952|PMID:26467025|PMID:26708526|PMID:26931467|PMID:26937548|PMID:26942290|PMID:27170295|PMID:27246988|PMID:27363716|PMID:27502037|PMID:27596331|PMID:27884859|PMID:28008864|PMID:28087897|PMID:28492532|PMID:28754744|PMID:28833369|PMID:28915117|PMID:29168297|PMID:29419413|PMID:29665843|PMID:30098700|PMID:30143558|PMID:30921766|PMID:31200363|PMID:31277073|PMID:31475041|PMID:31605817|PMID:31748124|PMID:31837199|PMID:31996231|PMID:32520725|PMID:32666525|PMID:32724172|PMID:32853167|PMID:33299522|PMID:33337535|PMID:33354214|PMID:33442024|PMID:33448156|PMID:33532864|PMID:33548149|PMID:33983622|PMID:34342100|PMID:34348883|PMID:34759222|PMID:34850017|PMID:35090434|PMID:35457241|PMID:36531499|PMID:36901693|PMID:37805574|PMID:37833774|PMID:37880672|PMID:38227553|PMID:40526877|PMID:7795583|PMID:7874169|PMID:9536098
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0111337	Jackson-Weiss syndrome		ISO	RGD:732290	D	RGD:7240710	20180130	OMIM			
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0111337	Jackson-Weiss syndrome		ISO	RGD:732290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES | ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome	PMID:10861678|PMID:10942429|PMID:11297579|PMID:12627230|PMID:1456217|PMID:14564217|PMID:14613973|PMID:16199547|PMID:16764984|PMID:16957473|PMID:17003104|PMID:17154279|PMID:17530415|PMID:17576681|PMID:18034870|PMID:18596921|PMID:21247312|PMID:22319038|PMID:23643382|PMID:23812909|PMID:24127277|PMID:24497711|PMID:25251565|PMID:25636053|PMID:25741868|PMID:26942290|PMID:27363716|PMID:27884859|PMID:28492532|PMID:30143558|PMID:30921766|PMID:31200363|PMID:31475041|PMID:31605817|PMID:31837199|PMID:32724172|PMID:33337535|PMID:33448156|PMID:36531499|PMID:37805574|PMID:40526877|PMID:7795583|PMID:7874169|PMID:9536098
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0111532	osteoglophonic dysplasia		ISO	RGD:732290	D	RGD:7240710	20180130	OMIM			
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0111532	osteoglophonic dysplasia		ISO	RGD:732290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: OSTEOGLOPHONIC DYSPLASIA | ClinVar Annotator: match by term: Osteoglophonic dwarfism | ClinVar Annotator: match by term: Osteoglophonic dysplasia | ClinVar Annotator: match by term: osteoglophonic dysplasia	PMID:10861678|PMID:10942429|PMID:11297579|PMID:12627230|PMID:1456217|PMID:14564217|PMID:14613973|PMID:15605412|PMID:15625620|PMID:16199547|PMID:16470795|PMID:16764984|PMID:16957473|PMID:17154279|PMID:17530415|PMID:17576681|PMID:18034870|PMID:18160472|PMID:18596921|PMID:18985070|PMID:21247312|PMID:22319038|PMID:23329143|PMID:23643382|PMID:23657145|PMID:23812909|PMID:24127277|PMID:24497711|PMID:25064402|PMID:25251565|PMID:25425165|PMID:25636053|PMID:25741868|PMID:26467025|PMID:26931467|PMID:26942290|PMID:27363716|PMID:27884859|PMID:28492532|PMID:30143558|PMID:30921766|PMID:31200363|PMID:31475041|PMID:31837199|PMID:32724172|PMID:33337535|PMID:33448156|PMID:36531499|PMID:37805574|PMID:40526877|PMID:7795583|PMID:7874169|PMID:9536098
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:0111586	Martsolf syndrome 1		ISO	RGD:732290	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Martsolf syndrome 1	PMID:25741868
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:732290	D	RGD:9068941	20200609	RGD			PMID:24027026|REF_RGD_ID:13504747
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732290	D	RGD:9068941	20200609	RGD			PMID:9748519|REF_RGD_ID:10402073
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:10754	otitis media		ISO	RGD:732291	D	RGD:9068941	20220825	MouseDO		OMIM:166760	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:11383	cryptorchidism		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:620713	D	RGD:9068941	20200609	RGD		mRNA:increased expression:neuron:	PMID:8971765|REF_RGD_ID:10402092
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:12689	acoustic neuroma	disease_progression	ISO	RGD:732290	D	RGD:9068941	20200609	RGD			PMID:15354013|REF_RGD_ID:11567268
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:12721	multiple epiphyseal dysplasia		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	PMID:25741868
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:12960	acrocephalosyndactylia		ISO	RGD:732290	D	RGD:9068941	20200609	RGD			PMID:7874169|REF_RGD_ID:11567243
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:12960	acrocephalosyndactylia		ISO	RGD:732290	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.P252R (human)	PMID:25251565|REF_RGD_ID:11567271
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:13620	patent foramen ovale		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:16757108|PMID:20536592|PMID:25741868|PMID:28492532|PMID:37833774
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:13938	amenorrhea		ISO	RGD:732290	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:32870266
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:14705	Pfeiffer syndrome		ISO	RGD:732290	D	RGD:7240710	20180130	OMIM			
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:14705	Pfeiffer syndrome		ISO	RGD:732290	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome | ClinVar Annotator: match by term: Pfeiffer syndrome type 1	PMID:10861678|PMID:10942429|PMID:1456217|PMID:14564217|PMID:14613973|PMID:15605412|PMID:16764984|PMID:16957473|PMID:18034870|PMID:23643382|PMID:23657145|PMID:23812909|PMID:24127277|PMID:24497711|PMID:25064402|PMID:25251565|PMID:25741868|PMID:26931467|PMID:26942290|PMID:28492532|PMID:28754744|PMID:31837199|PMID:7795583|PMID:7874169
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:14705	Pfeiffer syndrome		ISO	RGD:732290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ACS V | ClinVar Annotator: match by term: Pfeiffer syndrome | ClinVar Annotator: match by term: Pfeiffer syndrome type 1	PMID:10861678|PMID:10942429|PMID:11297579|PMID:12627230|PMID:1456217|PMID:14564217|PMID:14613973|PMID:15605412|PMID:15625620|PMID:15845591|PMID:16199547|PMID:16470795|PMID:16757108|PMID:16764984|PMID:16882753|PMID:16957473|PMID:17154279|PMID:17200176|PMID:17360555|PMID:17530415|PMID:17576681|PMID:18034870|PMID:18160472|PMID:18596921|PMID:18985070|PMID:19820032|PMID:20536592|PMID:20696889|PMID:21209029|PMID:21247312|PMID:22031817|PMID:22319038|PMID:23329143|PMID:23533228|PMID:23643382|PMID:23657145|PMID:23812909|PMID:24031091|PMID:24127277|PMID:24497711|PMID:25064402|PMID:25251565|PMID:25394172|PMID:25425165|PMID:25636053|PMID:25741868|PMID:26207952|PMID:26467025|PMID:26708526|PMID:26931467|PMID:26942290|PMID:27363716|PMID:27502037|PMID:27884859|PMID:28492532|PMID:28754744|PMID:28915117|PMID:30098700|PMID:30143558|PMID:30921766|PMID:31200363|PMID:31475041|PMID:31748124|PMID:31837199|PMID:32520725|PMID:32666525|PMID:32724172|PMID:32853167|PMID:33299522|PMID:33337535|PMID:33442024|PMID:33448156|PMID:33548149|PMID:33983622|PMID:35090434|PMID:36531499|PMID:36901693|PMID:37805574|PMID:37833774|PMID:37880672|PMID:40526877|PMID:7795583|PMID:7874169|PMID:9536098
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:1596	depressive disorder		ISO	RGD:732290	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16861106
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:732290	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22286583|PMID:27794399
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:1826	epilepsy		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:1909	melanoma		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:732290	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:11297579|PMID:12627230|PMID:15845591|PMID:16764984|PMID:17154279|PMID:17200176|PMID:23643382|PMID:25636053|PMID:25741868|PMID:26207952|PMID:26467025|PMID:26708526|PMID:27502037|PMID:28492532|PMID:30098700|PMID:32666525|PMID:32853167|PMID:33548149|PMID:35738466
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:1924	hypogonadism		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypergonadotropic hypogonadism	PMID:25741868
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:1969	cerebral palsy		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:620713	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebral cortex:	PMID:8858623|REF_RGD_ID:10402044
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:2340	craniosynostosis		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Craniosynostosis	PMID:10629055|PMID:15605412|PMID:16764984|PMID:17154279|PMID:17576681|PMID:18160472|PMID:18985070|PMID:23329143|PMID:23657145|PMID:24031091|PMID:25064402|PMID:25425165|PMID:25741868|PMID:26467025|PMID:26931467|PMID:28492532|PMID:9536098
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:2340	craniosynostosis		ISO	RGD:732290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:10629055|PMID:15605412|PMID:16764984|PMID:17154279|PMID:17360555|PMID:17576681|PMID:18160472|PMID:18985070|PMID:23329143|PMID:23657145|PMID:24031091|PMID:25064402|PMID:25425165|PMID:25741868|PMID:26467025|PMID:26931467|PMID:28492532|PMID:9536098
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:2526	prostate adenocarcinoma		ISO	RGD:732291	D	RGD:9068941	20200609	RGD			PMID:18068632|PMID:23576558|REF_RGD_ID:13504748|REF_RGD_ID:2298702
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:2679	dysembryoplastic neuroepithelial tumor		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysembryoplastic neuroepithelial tumor	PMID:19224897|PMID:23583981|PMID:23817572|PMID:24705251|PMID:24806303|PMID:26083571|PMID:26810070|PMID:26920151|PMID:27701736|PMID:27993330|PMID:28912153|PMID:28966033|PMID:29763623|PMID:30825062|PMID:31673897|PMID:32059187|PMID:32289278|PMID:33352931|PMID:34272467|PMID:35018490|PMID:35836307
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:2841	asthma		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:3069	malignant astrocytoma		ISO	RGD:732290	D	RGD:8554872	20250422	ClinVar		ClinVar Annotator: match by term: Astrocytoma	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:3070	high grade glioma		ISO	RGD:732290	D	RGD:9068941	20250424	CTD		CTD Direct Evidence: marker/mechanism	PMID:23583981
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:3213	demyelinating disease		ISO	RGD:732291	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:11020217|REF_RGD_ID:8655565
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma	PMID:24436047|PMID:27993330|PMID:34166060
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:3275	thymoma		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:3614	Kallmann syndrome		ISO	RGD:732290	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Kallmann syndrome	PMID:25741868
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:732290	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22286583|PMID:27794399
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:732290	D	RGD:9068941	20200609	RGD			PMID:23806793|REF_RGD_ID:25330355
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:403	mouth disease	treatment	ISO	RGD:620713	D	RGD:9068941	20200609	RGD			PMID:14699553|REF_RGD_ID:10402103
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:4079	heart valve disease		ISO	RGD:732290	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30008375
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:732290	D	RGD:9068941	20200609	RGD			PMID:25900027|REF_RGD_ID:11352663
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:4621	holoprosencephaly		ISO	RGD:732290	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Semilobar holoprosencephaly | ClinVar Annotator: match by term: holoprosencephaly | ClinVar Annotator: match by term: lobar holoprosencephaly | ClinVar Annotator: match by term: microform holoprosencephaly	PMID:12627230|PMID:16199547|PMID:17154279|PMID:17530415|PMID:18034870|PMID:23812909|PMID:25741868|PMID:26931467|PMID:26942290|PMID:27363716|PMID:28492532|PMID:31200363|PMID:32724172|PMID:37805574
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:4783	mesangial proliferative glomerulonephritis		ISO	RGD:620713	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mesangial cell	PMID:10592054|REF_RGD_ID:10402100
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:4845	pilomyxoid astrocytoma		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pilomyxoid astrocytoma	PMID:25741868|PMID:28492532|PMID:33448156
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:4851	pilocytic astrocytoma		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pilocytic astrocytoma	PMID:10918587|PMID:23583981|PMID:23817572|PMID:24750136|PMID:26083571|PMID:26864631|PMID:27577993|PMID:27701736|PMID:27993330|PMID:28166054|PMID:28912153|PMID:31673897|PMID:32059187|PMID:32289278|PMID:33352931|PMID:34272467|PMID:35018490
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:5015	fibrolamellar carcinoma		ISO	RGD:732290	D	RGD:9068941	20200609	RGD		protein:increased expression:liver:	PMID:24925055|REF_RGD_ID:11055933
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:5223	infertility		ISO	RGD:732290	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Infertility	PMID:25741868
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:5327	retinal detachment		ISO	RGD:620713	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:layer of retina:	PMID:10670490|REF_RGD_ID:10402077
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:732290	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941188
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:5419	schizophrenia		ISO	RGD:732290	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16861106
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:5844	myocardial infarction		ISO	RGD:732291	D	RGD:9068941	20200609	RGD			PMID:17439742|REF_RGD_ID:10402087
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:630	genetic disease		ISO	RGD:732290	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16882753|PMID:22031817|PMID:23533228|PMID:24732674|PMID:25741868|PMID:28008864|PMID:28492532|PMID:31200363|PMID:32520725|PMID:32666525|PMID:33299522|PMID:33548149|PMID:35090434|PMID:36531499|PMID:37805574
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:620713	D	RGD:9068941	20200609	RGD			PMID:19197140|REF_RGD_ID:2315911
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:674	cleft palate		ISO	RGD:732290	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17963255
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:732290	D	RGD:9068941	20200609	RGD			PMID:21573021|REF_RGD_ID:25440476
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:769	neuroblastoma		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuroblastoma	PMID:27993330|PMID:33056981|PMID:34971484|PMID:35488346
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:8398	osteoarthritis		ISO	RGD:732290	D	RGD:9068941	20200609	RGD			PMID:22393163|REF_RGD_ID:10402075
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:732291	D	RGD:9068941	20200609	RGD			PMID:18068632|REF_RGD_ID:2298702
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:8692	myeloid leukemia		ISO	RGD:732290	D	RGD:9068941	20200609	RGD			PMID:19506298|REF_RGD_ID:11352666
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:8725	vascular dementia	treatment	ISO	RGD:620713	D	RGD:9068941	20200609	RGD			PMID:22500404|REF_RGD_ID:10402076
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9000053	Headache		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9000067	Congenital Foot Deformities		ISO	RGD:732290	D	RGD:9068941	20200609	RGD		associated with Kallmann Syndrome;DNA:missense mutations, nonsense mutation:exon:multiple	PMID:25394172|REF_RGD_ID:11098154
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9000955	Acute Otitis Media		ISO	RGD:732291	D	RGD:9068941	20210611	RGD		mRNA:decreased expression:middle ear (mouse)	PMID:21889218|REF_RGD_ID:127284853
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:732291	D	RGD:9068941	20200609	RGD		associated with prostate adenocarcinoma	PMID:23576558|REF_RGD_ID:13504748
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9001031	Retrognathia		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:10861678|PMID:10942429|PMID:1456217|PMID:14564217|PMID:14613973|PMID:16957473|PMID:18034870|PMID:23812909|PMID:24127277|PMID:24497711|PMID:25251565|PMID:25741868|PMID:26942290|PMID:28492532|PMID:31837199|PMID:7795583|PMID:7874169
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9001036	Penetrating Head Injuries		ISO	RGD:620713	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:astrocyte,macrophage,neutrophil:	PMID:11168551|REF_RGD_ID:10402049
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9001239	Delayed Puberty		ISO	RGD:732290	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:12627230|PMID:17200176|PMID:25636053|PMID:25741868|PMID:28492532|PMID:32853167|PMID:33548149
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9001502	Congenital Microtia		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:16757108|PMID:20536592|PMID:25741868|PMID:28492532|PMID:37833774
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:620713	D	RGD:9068941	20200609	RGD			PMID:21543745|REF_RGD_ID:25440477
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9001871	Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant		ISO	RGD:732290	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation, missense mutations: :multiple	PMID:16882753|REF_RGD_ID:11567239
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9001871	Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant		ISO	RGD:732290	D	RGD:9068941	20200609	RGD		DNA:missense mutation, nonsense mutation:exon:p.S107X (320C>A), p.G687R (2059G>A) (human)	PMID:15845591|REF_RGD_ID:11567240
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9001871	Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant		ISO	RGD:732290	D	RGD:9068941	20200609	RGD		DNA:missense mutations, nonsense mutations:exon:multiple	PMID:16764984|REF_RGD_ID:11567241
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9001929	Hypoglossal Nerve Injuries		ISO	RGD:620713	D	RGD:9068941	20200609	RGD			PMID:9183688|REF_RGD_ID:8655640
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:732291	D	RGD:9068941	20200609	RGD			PMID:22833219|REF_RGD_ID:10402072
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9002514	Neointima		ISO	RGD:620713	D	RGD:9068941	20200609	RGD			PMID:15072997|REF_RGD_ID:10402089
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:10861678|PMID:10942429|PMID:1456217|PMID:14564217|PMID:14613973|PMID:16957473|PMID:18034870|PMID:23812909|PMID:24127277|PMID:24497711|PMID:25251565|PMID:25741868|PMID:26942290|PMID:28492532|PMID:31837199|PMID:7795583|PMID:7874169
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9003503	Penis Agenesis		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9003507	Premature Birth		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9004147	Anosmia		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anosmia	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9004210	Tympanic Membrane Perforation		ISO	RGD:620713	D	RGD:9068941	20200609	RGD			PMID:21590482|REF_RGD_ID:10402099
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9004332	Osteoarthritis, Experimental		ISO	RGD:732291	D	RGD:9068941	20200609	RGD			PMID:22833219|REF_RGD_ID:10402072
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9004441	Experimental Leukemia	treatment	ISO	RGD:732290	D	RGD:9068941	20200609	RGD			PMID:22781593|REF_RGD_ID:11352669
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9004955	Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate		ISO	RGD:732290	D	RGD:7240710	20180130	OMIM			
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9004955	Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate		ISO	RGD:732290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HARTSFIELD SYNDROME | ClinVar Annotator: match by term: Hartsfield syndrome | ClinVar Annotator: match by term: Hartsfield-Bixler-Demyer syndrome	PMID:10861678|PMID:10942429|PMID:11297579|PMID:12627230|PMID:1456217|PMID:14564217|PMID:14613973|PMID:15605412|PMID:16199547|PMID:16757108|PMID:16764984|PMID:16957473|PMID:17154279|PMID:17530415|PMID:17576681|PMID:18034870|PMID:18596921|PMID:20536592|PMID:21247312|PMID:22319038|PMID:23643382|PMID:23657145|PMID:23812909|PMID:24031091|PMID:24127277|PMID:24497711|PMID:24888332|PMID:25064402|PMID:25251565|PMID:25636053|PMID:25741868|PMID:26931467|PMID:26942290|PMID:27363716|PMID:27884859|PMID:28492532|PMID:30143558|PMID:30921766|PMID:31200363|PMID:31475041|PMID:31748124|PMID:31837199|PMID:32724172|PMID:33337535|PMID:33448156|PMID:33983622|PMID:36531499|PMID:37805574|PMID:37833774|PMID:37880672|PMID:40526877|PMID:7795583|PMID:7874169|PMID:9536098
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:732290	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21936542
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9005616	Micrognathism		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:10861678|PMID:10942429|PMID:1456217|PMID:14564217|PMID:14613973|PMID:16957473|PMID:18034870|PMID:23812909|PMID:24127277|PMID:24497711|PMID:25251565|PMID:25741868|PMID:26942290|PMID:28492532|PMID:31837199|PMID:7795583|PMID:7874169
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9006618	Liver Metastasis		ISO	RGD:732290	D	RGD:9068941	20200609	RGD		associated with colorectal cancer;mRNA:increased expression:colorectal mucosa:	PMID:19082464|REF_RGD_ID:25330357
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9007090	Experimental Seizures		ISO	RGD:620713	D	RGD:9068941	20241114	RGD		protein:increased expression:cerebral cortex,hippocampus,neuron, astrocyrte:	PMID:8072686|REF_RGD_ID:10402045
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9007632	Encephalocraniocutaneous Lipomatosis		ISO	RGD:732290	D	RGD:7240710	20190315	OMIM			
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9007632	Encephalocraniocutaneous Lipomatosis		ISO	RGD:732290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis	PMID:10861678|PMID:10918587|PMID:10942429|PMID:11297579|PMID:12627230|PMID:1456217|PMID:14564217|PMID:14613973|PMID:16199547|PMID:16764984|PMID:16957473|PMID:17154279|PMID:17530415|PMID:17576681|PMID:18034870|PMID:18160472|PMID:18596921|PMID:18985070|PMID:21247312|PMID:22319038|PMID:23329143|PMID:23583981|PMID:23643382|PMID:23812909|PMID:23817572|PMID:24127277|PMID:24497711|PMID:24705250|PMID:24880341|PMID:25251565|PMID:25425165|PMID:25636053|PMID:25741868|PMID:26810070|PMID:26920151|PMID:26942290|PMID:27363716|PMID:27577993|PMID:27701736|PMID:27884859|PMID:27993330|PMID:28492532|PMID:28912153|PMID:28915117|PMID:28966033|PMID:29564591|PMID:29880043|PMID:30143558|PMID:30825062|PMID:30921766|PMID:31200363|PMID:31250151|PMID:31348837|PMID:31475041|PMID:31677015|PMID:31837199|PMID:32059187|PMID:32289278|PMID:32724172|PMID:32859279|PMID:33337535|PMID:33352931|PMID:33448156|PMID:34185076|PMID:34272467|PMID:35018490|PMID:35101336|PMID:35836307|PMID:35928375|PMID:36271929|PMID:36418240|PMID:36531499|PMID:37524847|PMID:37805574|PMID:40526877|PMID:7795583|PMID:7874169|PMID:9536098
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9007730	Burns		ISO	RGD:620713	D	RGD:9068941	20200609	RGD		protein:increased expression:epidermis:	PMID:9204964|REF_RGD_ID:10402083
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:15605412|PMID:16764984|PMID:17154279|PMID:18160472|PMID:18985070|PMID:23329143|PMID:23657145|PMID:25064402|PMID:25425165|PMID:25741868|PMID:26467025|PMID:26931467|PMID:28492532
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9008388	Trigonocephaly 1		ISO	RGD:732290	D	RGD:7240710	20180130	OMIM			
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9008388	Trigonocephaly 1		ISO	RGD:732290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Trigonocephaly 1	PMID:10861678|PMID:10942429|PMID:11297579|PMID:12627230|PMID:1456217|PMID:14564217|PMID:14613973|PMID:15605412|PMID:16199547|PMID:16764984|PMID:16957473|PMID:17154279|PMID:17530415|PMID:17576681|PMID:18034870|PMID:18160472|PMID:18596921|PMID:18985070|PMID:21247312|PMID:22319038|PMID:23329143|PMID:23643382|PMID:23657145|PMID:23812909|PMID:24127277|PMID:24497711|PMID:25064402|PMID:25251565|PMID:25425165|PMID:25636053|PMID:25741868|PMID:26467025|PMID:26931467|PMID:26942290|PMID:27363716|PMID:27884859|PMID:28492532|PMID:30143558|PMID:30921766|PMID:31200363|PMID:31475041|PMID:31837199|PMID:32724172|PMID:33337535|PMID:33448156|PMID:36531499|PMID:37805574|PMID:40526877|PMID:7795583|PMID:7874169|PMID:9536098
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:732290	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12514106
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:732291	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.P250R (mouse)	PMID:21538817|REF_RGD_ID:11251832
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9008763	Femoral Fractures		ISO	RGD:620713	D	RGD:9068941	20200609	RGD			PMID:11704499|REF_RGD_ID:11567258
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:16757108|PMID:20536592|PMID:25741868|PMID:28492532|PMID:37833774
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732290	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20179196|PMID:21936542
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732290	D	RGD:9068941	20200609	RGD			PMID:23777766|PMID:27005999|REF_RGD_ID:11352310|REF_RGD_ID:11352670
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9119	acute myeloid leukemia	treatment	ISO	RGD:732290	D	RGD:9068941	20200609	RGD			PMID:22683780|REF_RGD_ID:11352665
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9296	cleft lip		ISO	RGD:732290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:25741868
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732291	D	RGD:9068941	20200609	RGD			PMID:22174314|REF_RGD_ID:10401888
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9452	steatotic liver disease	severity	ISO	RGD:732290	D	RGD:9068941	20200609	RGD			PMID:32195457|REF_RGD_ID:25330354
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9970	obesity		ISO	RGD:620713	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hypothalamus:	PMID:21430024|REF_RGD_ID:10402094
8760138	Fgfr1	fibroblast growth factor receptor 1	gene	DOID:9970	obesity		ISO	RGD:732290	D	RGD:9068941	20200609	RGD		mRNA:increased expression:adipose tissue:	PMID:21430024|REF_RGD_ID:10402094
8760164	Kmt5c	lysine methyltransferase 5C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8760164	Kmt5c	lysine methyltransferase 5C	gene	DOID:1909	melanoma		ISO	RGD:1346503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8760164	Kmt5c	lysine methyltransferase 5C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8760164	Kmt5c	lysine methyltransferase 5C	gene	DOID:3275	thymoma		ISO	RGD:1346503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8760164	Kmt5c	lysine methyltransferase 5C	gene	DOID:4362	cervical cancer		ISO	RGD:1346503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8760164	Kmt5c	lysine methyltransferase 5C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8760164	Kmt5c	lysine methyltransferase 5C	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1305226	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina	PMID:21357467|REF_RGD_ID:9586742
8760164	Kmt5c	lysine methyltransferase 5C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8760164	Kmt5c	lysine methyltransferase 5C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8760164	Kmt5c	lysine methyltransferase 5C	gene	DOID:916	liver benign neoplasm	disease_progression	ISO	RGD:1305226	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:16497704|REF_RGD_ID:9586726
8760196	Rbms1	RNA binding motif single stranded interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8760196	Rbms1	RNA binding motif single stranded interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1317165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8760196	Rbms1	RNA binding motif single stranded interacting protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8760196	Rbms1	RNA binding motif single stranded interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317165	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8760196	Rbms1	RNA binding motif single stranded interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760196	Rbms1	RNA binding motif single stranded interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8760196	Rbms1	RNA binding motif single stranded interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8760228	Rpl37	ribosomal protein L37	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8760228	Rpl37	ribosomal protein L37	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8760228	Rpl37	ribosomal protein L37	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8760228	Rpl37	ribosomal protein L37	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760228	Rpl37	ribosomal protein L37	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8760228	Rpl37	ribosomal protein L37	gene	DOID:9256	colorectal cancer		ISO	RGD:731374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8760239	Ift43	intraflagellar transport 43	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8760239	Ift43	intraflagellar transport 43	gene	DOID:0050577	cranioectodermal dysplasia		ISO	RGD:1602079	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	
8760239	Ift43	intraflagellar transport 43	gene	DOID:0050581	brachydactyly		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532
8760239	Ift43	intraflagellar transport 43	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1602079	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532
8760239	Ift43	intraflagellar transport 43	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8760239	Ift43	intraflagellar transport 43	gene	DOID:0080292	retinitis pigmentosa 81		ISO	RGD:1602079	D	RGD:7240710	20190315	OMIM			
8760239	Ift43	intraflagellar transport 43	gene	DOID:0080292	retinitis pigmentosa 81		ISO	RGD:1602079	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 81	PMID:16199547|PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532|PMID:28973684
8760239	Ift43	intraflagellar transport 43	gene	DOID:0080293	short-rib thoracic dysplasia 18 with polydactyly		ISO	RGD:1602079	D	RGD:7240710	20190315	OMIM			
8760239	Ift43	intraflagellar transport 43	gene	DOID:0080293	short-rib thoracic dysplasia 18 with polydactyly		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 18 with polydactyly	PMID:16199547|PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532
8760239	Ift43	intraflagellar transport 43	gene	DOID:0080805	cranioectodermal dysplasia 3		ISO	RGD:1602079	D	RGD:7240710	20180130	OMIM			
8760239	Ift43	intraflagellar transport 43	gene	DOID:0080805	cranioectodermal dysplasia 3		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cranioectodermal dysplasia 3	PMID:16199547|PMID:21378380|PMID:24027799|PMID:25741868|PMID:28400947|PMID:28492532|PMID:29896747
8760239	Ift43	intraflagellar transport 43	gene	DOID:10283	prostate cancer		ISO	RGD:1602079	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8760239	Ift43	intraflagellar transport 43	gene	DOID:10283	prostate cancer		ISO	RGD:1602079	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8760239	Ift43	intraflagellar transport 43	gene	DOID:10534	stomach cancer		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8760239	Ift43	intraflagellar transport 43	gene	DOID:12215	oligohydramnios		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532
8760239	Ift43	intraflagellar transport 43	gene	DOID:1324	lung cancer		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
8760239	Ift43	intraflagellar transport 43	gene	DOID:3275	thymoma		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8760239	Ift43	intraflagellar transport 43	gene	DOID:4362	cervical cancer		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8760239	Ift43	intraflagellar transport 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760239	Ift43	intraflagellar transport 43	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:16199547|PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532
8760239	Ift43	intraflagellar transport 43	gene	DOID:65	connective tissue disease		ISO	RGD:1602079	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disease	PMID:16199547|PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532
8760239	Ift43	intraflagellar transport 43	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8760239	Ift43	intraflagellar transport 43	gene	DOID:9256	colorectal cancer		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8760258	Stxbp2	syntaxin binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8760258	Stxbp2	syntaxin binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8760258	Stxbp2	syntaxin binding protein 2	gene	DOID:0110925	familial hemophagocytic lymphohistiocytosis 5		ISO	RGD:733592	D	RGD:7240710	20180130	OMIM			
8760258	Stxbp2	syntaxin binding protein 2	gene	DOID:0110925	familial hemophagocytic lymphohistiocytosis 5		ISO	RGD:733592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 | ClinVar Annotator: match by term: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITH OR WITHOUT MICROVILLUS INCLUSION DISEASE | ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 | ClinVar Annotator: match by term: STXBP2-related condition	PMID:10788461|PMID:16199547|PMID:17576681|PMID:19804848|PMID:19884660|PMID:20558610|PMID:20798128|PMID:20823128|PMID:22451424|PMID:22791290|PMID:22796692|PMID:22970278|PMID:23382066|PMID:23687090|PMID:24033266|PMID:24194549|PMID:24916509|PMID:25564401|PMID:25741868|PMID:25901543|PMID:26451869|PMID:26684649|PMID:27209435|PMID:27781387|PMID:27848944|PMID:28353193|PMID:28380445|PMID:28399723|PMID:28492532|PMID:28757574|PMID:29266534|PMID:29665027|PMID:30290665|PMID:30697212|PMID:30899265|PMID:31130284|PMID:31513353|PMID:31664448|PMID:31807395|PMID:31865540|PMID:31976148|PMID:32256442|PMID:32375849|PMID:32531373|PMID:32542393|PMID:32935436|PMID:33016334|PMID:33365035|PMID:33746956|PMID:34050687|PMID:34170459|PMID:34249802|PMID:34330684|PMID:34339548|PMID:35207437|PMID:36588876|PMID:36706356|PMID:38978926|PMID:9536098
8760258	Stxbp2	syntaxin binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:733592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8760258	Stxbp2	syntaxin binding protein 2	gene	DOID:1588	thrombocytopenia		ISO	RGD:733592	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:24916509|PMID:25741868|PMID:28492532|PMID:32256442|PMID:32935436|PMID:34050687|PMID:36588876|PMID:36706356
8760258	Stxbp2	syntaxin binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:733592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8760258	Stxbp2	syntaxin binding protein 2	gene	DOID:2213	hemorrhagic disease		ISO	RGD:733592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:24916509|PMID:25741868|PMID:28492532|PMID:32256442|PMID:32935436|PMID:34050687|PMID:36588876|PMID:36706356
8760258	Stxbp2	syntaxin binding protein 2	gene	DOID:2218	blood platelet disease		ISO	RGD:733592	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30696774
8760258	Stxbp2	syntaxin binding protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8760258	Stxbp2	syntaxin binding protein 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:733592	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:19804848|PMID:19884660|PMID:20558610|PMID:20798128|PMID:20823128|PMID:21881043|PMID:22451424|PMID:23687090|PMID:24033266|PMID:24194549|PMID:24916509|PMID:25741868|PMID:27577878|PMID:28492532|PMID:29665027|PMID:32542393|PMID:34050687
8760258	Stxbp2	syntaxin binding protein 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:733592	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:19804848|PMID:19884660|PMID:20558610|PMID:20798128|PMID:20823128|PMID:21881043|PMID:22451424|PMID:23687090|PMID:24033266|PMID:24194549|PMID:24916509|PMID:25741868|PMID:27577878|PMID:27781387|PMID:28492532|PMID:29665027|PMID:32256442|PMID:32542393|PMID:32935436|PMID:34050687|PMID:34249802|PMID:36588876|PMID:36706356
8760258	Stxbp2	syntaxin binding protein 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:733592	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:20558610|PMID:20798128|PMID:20823128|PMID:22451424|PMID:24194549|PMID:24916509|PMID:25741868|PMID:28492532|PMID:29665027|PMID:30899265|PMID:31664448|PMID:31807395|PMID:32256442|PMID:32375849|PMID:32935436|PMID:34050687|PMID:34170459|PMID:34339548|PMID:36588876|PMID:36706356
8760258	Stxbp2	syntaxin binding protein 2	gene	DOID:3410	carotid artery thrombosis		ISO	RGD:733592	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:30696774
8760258	Stxbp2	syntaxin binding protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8760258	Stxbp2	syntaxin binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:733592	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8760258	Stxbp2	syntaxin binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760258	Stxbp2	syntaxin binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:733592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22791290|PMID:24194549|PMID:25741868|PMID:28492532|PMID:32542393
8760258	Stxbp2	syntaxin binding protein 2	gene	DOID:9004404	Familial Hemophagocytic Lymphohistiocytoses		ISO	RGD:733592	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis | ClinVar Annotator: match by term: Hereditary hemophagocytic lymphohistiocytosis	PMID:20558610|PMID:20798128|PMID:20823128|PMID:22451424|PMID:22791290|PMID:22796692|PMID:24194549|PMID:25564401|PMID:25741868|PMID:28492532|PMID:31664448|PMID:31807395|PMID:32542393|PMID:33365035|PMID:33746956
8760258	Stxbp2	syntaxin binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8760258	Stxbp2	syntaxin binding protein 2	gene	DOID:9008217	Hemorrhage		ISO	RGD:733592	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30696774
8760258	Stxbp2	syntaxin binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8760289	Pet100	PET100 homolog	gene	DOID:0070498	mitochondrial complex IV deficiency nuclear type 12		ISO	RGD:5135069	D	RGD:7240710	20201111	OMIM			
8760306	Glyatl3	glycine-N-acyltransferase like 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8760306	Glyatl3	glycine-N-acyltransferase like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8760319	Cd2	CD2 molecule	gene	DOID:0060903	thrombosis		ISO	RGD:10305	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16932337
8760319	Cd2	CD2 molecule	gene	DOID:10283	prostate cancer		ISO	RGD:10305	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
8760319	Cd2	CD2 molecule	gene	DOID:1184	nephrotic syndrome		ISO	RGD:10305	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2465858
8760319	Cd2	CD2 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:10305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760319	Cd2	CD2 molecule	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:10305	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143596
8760319	Cd2	CD2 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:10305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8760319	Cd2	CD2 molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:10305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:0080600	COVID-19		ISO	RGD:737501	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:10534	stomach cancer		ISO	RGD:737501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:10763	hypertension	treatment	ISO	RGD:3337	D	RGD:9068941	20230720	RGD			PMID:31572179|REF_RGD_ID:329956417
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:1115	sarcoma		ISO	RGD:737501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:11476	osteoporosis		ISO	RGD:737501	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:1909	melanoma		ISO	RGD:737501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:305	carcinoma		ISO	RGD:737501	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:3319	lymphangioleiomyomatosis		ISO	RGD:737501	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:32078667
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:737501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:4362	cervical cancer		ISO	RGD:737501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:5041	esophageal cancer		ISO	RGD:737501	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737501	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19363144
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:737501	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:9003566	Mesothelioma		ISO	RGD:737501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:737501	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15048980|PMID:15654357
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:737501	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8760333	Pkm	pyruvate kinase M1/2	gene	DOID:9256	colorectal cancer		ISO	RGD:737501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8760364	Btbd7	BTB domain containing 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345329	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8760364	Btbd7	BTB domain containing 7	gene	DOID:10534	stomach cancer		ISO	RGD:1345329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8760364	Btbd7	BTB domain containing 7	gene	DOID:1115	sarcoma		ISO	RGD:1345329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8760364	Btbd7	BTB domain containing 7	gene	DOID:1324	lung cancer		ISO	RGD:1345329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8760364	Btbd7	BTB domain containing 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8760364	Btbd7	BTB domain containing 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1345329	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8760364	Btbd7	BTB domain containing 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8760364	Btbd7	BTB domain containing 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8760379	Cacul1	CDK2 associated cullin domain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8760379	Cacul1	CDK2 associated cullin domain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8760379	Cacul1	CDK2 associated cullin domain 1	gene	DOID:1115	sarcoma		ISO	RGD:1317719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8760379	Cacul1	CDK2 associated cullin domain 1	gene	DOID:1909	melanoma		ISO	RGD:1317719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8760379	Cacul1	CDK2 associated cullin domain 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8760379	Cacul1	CDK2 associated cullin domain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317719	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8760379	Cacul1	CDK2 associated cullin domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760379	Cacul1	CDK2 associated cullin domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8760379	Cacul1	CDK2 associated cullin domain 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1317719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
8760379	Cacul1	CDK2 associated cullin domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8760379	Cacul1	CDK2 associated cullin domain 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8760404	Kif14	kinesin family member 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8760404	Kif14	kinesin family member 14	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1321678	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Joubert syndrome and related disorders	
8760404	Kif14	kinesin family member 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8760404	Kif14	kinesin family member 14	gene	DOID:0051031	primary autosomal recessive microcephaly 20		ISO	RGD:1321678	D	RGD:7240710	20190315	OMIM			
8760404	Kif14	kinesin family member 14	gene	DOID:0051031	primary autosomal recessive microcephaly 20		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 20, primary, autosomal recessive	PMID:25741868|PMID:28492532|PMID:28892560|PMID:29343805|PMID:30388224
8760404	Kif14	kinesin family member 14	gene	DOID:0061297	Meckel syndrome 12		ISO	RGD:1321678	D	RGD:7240710	20180130	OMIM			
8760404	Kif14	kinesin family member 14	gene	DOID:0061297	Meckel syndrome 12		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: KIF14-related condition | ClinVar Annotator: match by term: Meckel syndrome 12	PMID:16199547|PMID:23308235|PMID:25741868|PMID:28492532|PMID:29343805|PMID:30388224
8760404	Kif14	kinesin family member 14	gene	DOID:0080600	COVID-19		ISO	RGD:1321678	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8760404	Kif14	kinesin family member 14	gene	DOID:10534	stomach cancer		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
8760404	Kif14	kinesin family member 14	gene	DOID:10907	microcephaly		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8760404	Kif14	kinesin family member 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8760404	Kif14	kinesin family member 14	gene	DOID:1115	sarcoma		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8760404	Kif14	kinesin family member 14	gene	DOID:12849	autistic disorder		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8760404	Kif14	kinesin family member 14	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
8760404	Kif14	kinesin family member 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760404	Kif14	kinesin family member 14	gene	DOID:630	genetic disease		ISO	RGD:1321678	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:36307859
8760404	Kif14	kinesin family member 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8760404	Kif14	kinesin family member 14	gene	DOID:9004538	Hearing Loss		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8760404	Kif14	kinesin family member 14	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8760404	Kif14	kinesin family member 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8760404	Kif14	kinesin family member 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8760468	Prss23	serine protease 23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8760468	Prss23	serine protease 23	gene	DOID:0080600	COVID-19		ISO	RGD:1346659	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8760468	Prss23	serine protease 23	gene	DOID:0111412	exudative vitreoretinopathy 1		ISO	RGD:11598786|RGD:11608421|RGD:11616987|RGD:11624988|RGD:13523869|RGD:28912059	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant	PMID:28492532
8760468	Prss23	serine protease 23	gene	DOID:1909	melanoma		ISO	RGD:1346659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
8760468	Prss23	serine protease 23	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8760477	Atp12a	ATPase H+/K+ transporting non-gastric alpha2 subunit	gene	DOID:10534	stomach cancer		ISO	RGD:734042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8760477	Atp12a	ATPase H+/K+ transporting non-gastric alpha2 subunit	gene	DOID:1115	sarcoma		ISO	RGD:734042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8760477	Atp12a	ATPase H+/K+ transporting non-gastric alpha2 subunit	gene	DOID:1324	lung cancer		ISO	RGD:734042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8760477	Atp12a	ATPase H+/K+ transporting non-gastric alpha2 subunit	gene	DOID:3275	thymoma		ISO	RGD:734042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8760477	Atp12a	ATPase H+/K+ transporting non-gastric alpha2 subunit	gene	DOID:4500	hypokalemia		ISO	RGD:620569	D	RGD:9068941	20200609	RGD			PMID:9729517|REF_RGD_ID:13838663
8760477	Atp12a	ATPase H+/K+ transporting non-gastric alpha2 subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:734042	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8760477	Atp12a	ATPase H+/K+ transporting non-gastric alpha2 subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8760477	Atp12a	ATPase H+/K+ transporting non-gastric alpha2 subunit	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:620569	D	RGD:9068941	20200609	RGD			PMID:23320804|REF_RGD_ID:13838660
8760506	Adcy8	adenylate cyclase 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8760506	Adcy8	adenylate cyclase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8760506	Adcy8	adenylate cyclase 8	gene	DOID:0060001	withdrawal disorder		ISO	RGD:733733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16914643
8760506	Adcy8	adenylate cyclase 8	gene	DOID:10534	stomach cancer		ISO	RGD:733733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8760506	Adcy8	adenylate cyclase 8	gene	DOID:11713	diabetic angiopathy		ISO	RGD:733733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25381014
8760506	Adcy8	adenylate cyclase 8	gene	DOID:1324	lung cancer		ISO	RGD:733733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8760506	Adcy8	adenylate cyclase 8	gene	DOID:3324	mood disorder		ISO	RGD:733733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19691954
8760506	Adcy8	adenylate cyclase 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8760506	Adcy8	adenylate cyclase 8	gene	DOID:5041	esophageal cancer		ISO	RGD:733733	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8760506	Adcy8	adenylate cyclase 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8760506	Adcy8	adenylate cyclase 8	gene	DOID:9002362	Hyperkinesis		ISO	RGD:733733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16914643
8760506	Adcy8	adenylate cyclase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8760506	Adcy8	adenylate cyclase 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8760533	Dnaaf4	dynein axonemal assembly factor 4	gene	DOID:0050144	Kartagener syndrome		ISO	RGD:1343869	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23872636
8760533	Dnaaf4	dynein axonemal assembly factor 4	gene	DOID:0060254	Robinow syndrome		ISO	RGD:1558065	D	RGD:9068941	20220825	MouseDO			
8760533	Dnaaf4	dynein axonemal assembly factor 4	gene	DOID:0110615	primary ciliary dyskinesia 25		ISO	RGD:1343869	D	RGD:7240710	20260520	OMIM			
8760533	Dnaaf4	dynein axonemal assembly factor 4	gene	DOID:1115	sarcoma		ISO	RGD:1343869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8760533	Dnaaf4	dynein axonemal assembly factor 4	gene	DOID:12336	male infertility		ISO	RGD:1343869	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23872636
8760533	Dnaaf4	dynein axonemal assembly factor 4	gene	DOID:4428	dyslexia		ISO	RGD:1343869	D	RGD:7240710	20260520	OMIM			
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:0014667	disease of metabolism		ISO	RGD:734107	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19142110
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:0050741	alcohol dependence		ISO	RGD:61800	D	RGD:9068941	20240620	RGD		protein:decreased expression:agranular insular cortex, cingulate cortex, frontal cortex	PMID:15080502|REF_RGD_ID:401900737
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:0050741	alcohol dependence		ISO	RGD:734107	D	RGD:9068941	20240620	RGD			PMID:19060480|REF_RGD_ID:401900293
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:0050741	alcohol dependence		ISO	RGD:734107	D	RGD:9068941	20240620	RGD		DNA:SNP: :102T>C (rs6313)	PMID:21930285|REF_RGD_ID:401900297
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:0050741	alcohol dependence	disease_progression	ISO	RGD:734107	D	RGD:9068941	20231109	RGD		DNA:SNP: :102T>C (rs6313)	PMID:23321485|REF_RGD_ID:401900291
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:0050741	alcohol dependence	no_association	ISO	RGD:734107	D	RGD:9068941	20231111	RGD		DNA:SNP:promoter:-1438G>A (rs6311)	PMID:19328219|REF_RGD_ID:401900304
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:0050741	alcohol dependence	treatment	ISO	RGD:61800	D	RGD:9068941	20231118	RGD			PMID:8822536|REF_RGD_ID:401900739
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:0050742	nicotine dependence	severity	ISO	RGD:734107	D	RGD:9068941	20231109	RGD		DNA:SNP: :rs6313	PMID:28900078|REF_RGD_ID:401900295
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:0050742	nicotine dependence	severity	ISO	RGD:734107	D	RGD:9068941	20231123	RGD		DNA:SNPs:promoter, CDS:-1438A>G (rs6311), 102T>C (rs6313)	PMID:25366721|REF_RGD_ID:401900763
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:0050742	nicotine dependence	treatment	ISO	RGD:61800	D	RGD:9068941	20231207	RGD			PMID:22342986|REF_RGD_ID:401901205
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:0060001	withdrawal disorder		ISO	RGD:61800	D	RGD:9068941	20231118	RGD		associated with morphine dependence;mRNA:decreased expression:peripheral blood mononuclear cell	PMID:18801381|REF_RGD_ID:13464135
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:0060001	withdrawal disorder		ISO	RGD:61800	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:hippocampus, ventral tegmental area	PMID:26031442|REF_RGD_ID:401901090
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:0060001	withdrawal disorder		ISO	RGD:734107	D	RGD:9068941	20231111	RGD		associated with alcohol dependence	PMID:19060480|REF_RGD_ID:401900293
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:0060001	withdrawal disorder	treatment	ISO	RGD:61800	D	RGD:9068941	20231123	RGD		associated with Cocaine-Related Disorders	PMID:12398913|REF_RGD_ID:401900759
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:0060001	withdrawal disorder	treatment	ISO	RGD:62092	D	RGD:9068941	20231118	RGD			PMID:28082900|REF_RGD_ID:401900741
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:734107	D	RGD:9068941	20231111	RGD		associated with morbid obesity;mRNA:decreased expression:liver	PMID:33081272|REF_RGD_ID:401900305
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:62092	D	RGD:9068941	20231116	RGD			PMID:35732081|REF_RGD_ID:401900606
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:10534	stomach cancer		ISO	RGD:734107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:61800	D	RGD:9068941	20231130	RGD			PMID:26889223|REF_RGD_ID:401901085
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:10763	hypertension	no_association	ISO	RGD:734107	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :g.102T>C	PMID:15659047|REF_RGD_ID:1624371
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:734107	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :102T>C	PMID:11378836|REF_RGD_ID:1624375
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:10933	obsessive-compulsive disorder		ISO	RGD:734107	D	RGD:9068941	20260723	CTD		CTD Direct Evidence: marker/mechanism	PMID:19644229
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:10933	obsessive-compulsive disorder	susceptibility	ISO	RGD:734107	D	RGD:7240710	20260722	OMIM			
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:11206	opioid abuse		ISO	RGD:62092	D	RGD:9068941	20231111	RGD		mRNA:altered expression:striatum	PMID:30059705|REF_RGD_ID:401900306
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:12399	pathological gambling		ISO	RGD:734107	D	RGD:9068941	20231116	RGD		DNA:SNP: :102T>C (rs6313)	PMID:22740152|REF_RGD_ID:401900607
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:12849	autistic disorder		ISO	RGD:734107	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17280648
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:1324	lung cancer		ISO	RGD:734107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:13948	bladder neck obstruction		ISO	RGD:61800	D	RGD:9068941	20200609	RGD		mRNA:increased expression:urinary bladder	PMID:23344575|REF_RGD_ID:7257660
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:1470	major depressive disorder		ISO	RGD:734107	D	RGD:9068941	20260723	CTD		CTD Direct Evidence: marker/mechanism	
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:1470	major depressive disorder	susceptibility	ISO	RGD:734107	D	RGD:7240710	20260722	OMIM			
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:1561	cognitive disorder		ISO	RGD:734107	D	RGD:9068941	20211210	CTD		CTD Direct Evidence: marker/mechanism	PMID:29294249
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:1574	alcohol use disorder		ISO	RGD:61800	D	RGD:9068941	20231109	RGD		mRNA, protein:decreased expression:cerebral cortex, liver	PMID:20501057|REF_RGD_ID:401900301
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:1574	alcohol use disorder		ISO	RGD:61800	D	RGD:9068941	20231118	RGD			PMID:9347075|REF_RGD_ID:401900740
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:1574	alcohol use disorder		ISO	RGD:61800	D	RGD:9068941	20231118	RGD		protein:increased expression:dorsal raphe, nucleus accumbens	PMID:9347073|REF_RGD_ID:401900742
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:61800	D	RGD:9068941	20231123	RGD			PMID:9631953|REF_RGD_ID:401900760
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:61800	D	RGD:9068941	20231207	RGD			PMID:18239281|PMID:30628811|REF_RGD_ID:401900757|REF_RGD_ID:401901207
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:2468	psychotic disorder		ISO	RGD:734107	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14708030
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:252	alcoholic psychosis		ISO	RGD:734107	D	RGD:9068941	20231118	RGD		DNA:SNP:promoter:-1438G>A	PMID:11842624|REF_RGD_ID:401900738
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:2537	inflammatory and toxic neuropathy	treatment	ISO	RGD:61800	D	RGD:9068941	20231214	RGD			PMID:17888573|PMID:18930597|REF_RGD_ID:401938600|REF_RGD_ID:401938602
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:2560	morphine dependence		ISO	RGD:62092	D	RGD:9068941	20231118	RGD		protein:increased expression:prefrontal cortex	PMID:28082900|REF_RGD_ID:401900741
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:2841	asthma		ISO	RGD:734107	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:25322896
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:734107	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22048642
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:734107	D	RGD:9068941	20231109	RGD		DNA:SNP: :rs6313	PMID:28900078|REF_RGD_ID:401900295
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:3312	bipolar disorder		ISO	RGD:734107	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14708030
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:61800	D	RGD:9068941	20231130	RGD		mRNA, protein:increased expression:lung	PMID:24888825|REF_RGD_ID:401901089
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:4195	hyperglycemia		ISO	RGD:61800	D	RGD:9068941	20200609	RGD			PMID:9128844|REF_RGD_ID:1624376
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:4989	pancreatitis		ISO	RGD:61800	D	RGD:9068941	20200609	RGD			PMID:16183055|REF_RGD_ID:1624393
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:5419	schizophrenia		ISO	RGD:61800	D	RGD:9068941	20260723	RGD			PMID:23291154|REF_RGD_ID:7257662
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:5419	schizophrenia		ISO	RGD:61800	D	RGD:9068941	20260723	RGD		mRNA,  protein:altered expression, altered activity:expression:prefrontal cortex, striatum	PMID:28265857|REF_RGD_ID:401901203
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:5419	schizophrenia		ISO	RGD:734107	D	RGD:9068941	20260723	CTD		CTD Direct Evidence: marker/mechanism	PMID:14708030|PMID:18513383
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:5419	schizophrenia	susceptibility	ISO	RGD:734107	D	RGD:7240710	20260722	OMIM			
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:6000	congestive heart failure		ISO	RGD:61800	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart left ventricle	PMID:16002744|REF_RGD_ID:1600503
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:6088	acute stress disorder	treatment	ISO	RGD:61800	D	RGD:9068941	20231123	RGD			PMID:15507224|REF_RGD_ID:401900762
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:6364	migraine		ISO	RGD:734107	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12482207
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:679	basal ganglia disease		ISO	RGD:734107	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18480698
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:809	cocaine abuse		ISO	RGD:61800	D	RGD:9068941	20231123	RGD			PMID:11259563|REF_RGD_ID:401900755
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:809	cocaine abuse		ISO	RGD:61800	D	RGD:9068941	20231123	RGD		mRNA:increased expression:orbitofrontal cortex	PMID:27733540|REF_RGD_ID:401900753
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:809	cocaine abuse	treatment	ISO	RGD:61800	D	RGD:9068941	20231130	RGD			PMID:20814782|REF_RGD_ID:401901179
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9000972	Fever		ISO	RGD:734107	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19879056
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9001131	stress-related disorder		ISO	RGD:61800	D	RGD:9068941	20231207	RGD			PMID:37794307|REF_RGD_ID:401901277
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:61800	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;	PMID:18175064|REF_RGD_ID:7257686
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:734107	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus Type 2;	PMID:12213354|REF_RGD_ID:7257687
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9002211	Hyperalgesia		ISO	RGD:61800	D	RGD:9068941	20200609	RGD		associated with Diabetic neuropathies;	PMID:20531396|REF_RGD_ID:7257680
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9002211	Hyperalgesia		ISO	RGD:61800	D	RGD:9068941	20231214	RGD			PMID:20039957|PMID:25584948|REF_RGD_ID:401901200|REF_RGD_ID:401938625
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9002211	Hyperalgesia		ISO	RGD:734107	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17888573|PMID:18930597
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9002362	Hyperkinesis		ISO	RGD:734107	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16300424|PMID:19347958
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9002669	Hypoxia		ISO	RGD:61800	D	RGD:9068941	20200609	RGD			PMID:16362404|REF_RGD_ID:1624392
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9002916	Hyperphagia		ISO	RGD:61800	D	RGD:9068941	20200609	RGD			PMID:12392096|REF_RGD_ID:1624374
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9003126	Hallucinations		ISO	RGD:734107	D	RGD:9068941	20210212	CTD		CTD Direct Evidence: marker/mechanism	PMID:29748632
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9003919	Urination Disorders	treatment	ISO	RGD:61800	D	RGD:9068941	20231130	RGD		associated with Experimental Diabetes Mellitus	PMID:25822577|REF_RGD_ID:401901178
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9003936	Cardiomegaly		ISO	RGD:62092	D	RGD:9068941	20231214	RGD		protein:increased expression:heart	PMID:20005206|REF_RGD_ID:401938624
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders	treatment	ISO	RGD:61800	D	RGD:9068941	20231214	RGD			PMID:20684606|REF_RGD_ID:401938599
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9004744	Sleep Bruxism	susceptibility	ISO	RGD:734107	D	RGD:9068941	20231109	RGD		DNA:SNP: :102T>C (rs6313)	PMID:22545912|REF_RGD_ID:401900300
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:734107	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cocaine-Related Disorders	
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:61800	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:21521772|REF_RGD_ID:5135278
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9006086	Intervertebral Disc Displacement	treatment	ISO	RGD:61800	D	RGD:9068941	20231214	RGD			PMID:25584948|REF_RGD_ID:401938625
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:734107	D	RGD:9068941	20231109	RGD		DNA:SNP: :102T>C (rs6313)	PMID:17713649|REF_RGD_ID:401900292
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9007601	endotoxin shock	treatment	ISO	RGD:61800	D	RGD:9068941	20231207	RGD			PMID:19318092|REF_RGD_ID:401901206
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9007692	Insulin Resistance		ISO	RGD:734107	D	RGD:9068941	20200609	RGD		associated with Peripheral Vascular Diseases	PMID:17062970|REF_RGD_ID:1624367
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9007923	Back Pain		ISO	RGD:61800	D	RGD:9068941	20200609	RGD			PMID:17268262|REF_RGD_ID:1624379
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9008023	Memory Disorders		ISO	RGD:734107	D	RGD:9068941	20211210	CTD		CTD Direct Evidence: marker/mechanism	PMID:29294249
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9008675	Dyskinesias		ISO	RGD:734107	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11526996
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9452	steatotic liver disease		ISO	RGD:734107	D	RGD:9068941	20231111	RGD		associated with morbid obesity;mRNA:decreased expression:liver	PMID:33081272|REF_RGD_ID:401900305
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9970	obesity		ISO	RGD:734107	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17097612
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9970	obesity		ISO	RGD:734107	D	RGD:9068941	20240502	RGD		DNA:SNP:intron (rs912127) (human)	PMID:23900445|REF_RGD_ID:405650675
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9970	obesity	no_association	ISO	RGD:734107	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-1438G>A	PMID:16491645|REF_RGD_ID:1624369
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9970	obesity	susceptibility	ISO	RGD:734107	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-1438G>A	PMID:16328014|REF_RGD_ID:1624370
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9975	cocaine dependence		ISO	RGD:61800	D	RGD:9068941	20231123	RGD			PMID:15849375|REF_RGD_ID:401900756
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9975	cocaine dependence		ISO	RGD:734107	D	RGD:9068941	20231109	RGD		DNA:SNP: :rs6561333	PMID:23241418|REF_RGD_ID:401900299
8760552	Htr2a	5-hydroxytryptamine receptor 2A	gene	DOID:9975	cocaine dependence	treatment	ISO	RGD:61800	D	RGD:9068941	20231118	RGD			PMID:23336050|REF_RGD_ID:401900743
8760578	Aip	AHR interacting HSP90 co-chaperone	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1354071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8760578	Aip	AHR interacting HSP90 co-chaperone	gene	DOID:0112008	pituitary adenoma 5		ISO	RGD:1354071	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types	PMID:25741868|PMID:28492532
8760578	Aip	AHR interacting HSP90 co-chaperone	gene	DOID:0112009	pituitary adenoma 1		ISO	RGD:1354071	D	RGD:7240710	20200826	OMIM			
8760578	Aip	AHR interacting HSP90 co-chaperone	gene	DOID:0112009	pituitary adenoma 1		ISO	RGD:1354071	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PITUITARY ADENOMA 1, MULTIPLE TYPES	PMID:16199547|PMID:16728643|PMID:17244780|PMID:17341560|PMID:17360484|PMID:18381572|PMID:19366855|PMID:19684062|PMID:20506337|PMID:20530095|PMID:21454441|PMID:21753072|PMID:22319033|PMID:22720333|PMID:23038625|PMID:23300914|PMID:23321498|PMID:23633209|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24789813|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27153395|PMID:27253664|PMID:28255869|PMID:28492532|PMID:29036195|PMID:29074612|PMID:29440248|PMID:29455389|PMID:29632148|PMID:30461320|PMID:34588620|PMID:35586626
8760578	Aip	AHR interacting HSP90 co-chaperone	gene	DOID:11830	myopia		ISO	RGD:1354071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8760578	Aip	AHR interacting HSP90 co-chaperone	gene	DOID:2841	asthma		ISO	RGD:1354071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
8760578	Aip	AHR interacting HSP90 co-chaperone	gene	DOID:3946	pituitary-dependent Cushing's disease		ISO	RGD:1354071	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pituitary ACTH Hypersecretion | ClinVar Annotator: match by term: Pituitary dependent hypercortisolism	PMID:17360484|PMID:18381572|PMID:19366855|PMID:20506337|PMID:20530095|PMID:21454441|PMID:21753072|PMID:22319033|PMID:22720333|PMID:23038625|PMID:23300914|PMID:23321498|PMID:23633209|PMID:24033266|PMID:24050928|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25741868|PMID:26792934|PMID:27153395|PMID:27253664|PMID:28255869|PMID:28492532|PMID:29036195|PMID:29074612|PMID:30461320
8760578	Aip	AHR interacting HSP90 co-chaperone	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8760578	Aip	AHR interacting HSP90 co-chaperone	gene	DOID:6255	growth hormone secreting pituitary adenoma		ISO	RGD:1354071	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting | ClinVar Annotator: match by term: Somatotroph adenoma	PMID:12213383|PMID:12810716|PMID:16199547|PMID:16728643|PMID:17244780|PMID:17341560|PMID:17360484|PMID:17576681|PMID:17609395|PMID:18381572|PMID:19366855|PMID:19556287|PMID:19684062|PMID:20354355|PMID:20454499|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20570174|PMID:20685857|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21546764|PMID:21753072|PMID:22319033|PMID:22527616|PMID:22720333|PMID:23038625|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24789813|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27498687|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29440248|PMID:29455389|PMID:29632148|PMID:29729370|PMID:29953972|PMID:30461320|PMID:30941100|PMID:31125088|PMID:32336638|PMID:33029249|PMID:33057194|PMID:34588620|PMID:35586626|PMID:36149413|PMID:37149543|PMID:37711900|PMID:38390203|PMID:5320367|PMID:9482716|PMID:9536098
8760578	Aip	AHR interacting HSP90 co-chaperone	gene	DOID:657	adenoma		ISO	RGD:1354071	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22975028
8760578	Aip	AHR interacting HSP90 co-chaperone	gene	DOID:7004	ACTH-secreting pituitary adenoma		ISO	RGD:1354071	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PITUITARY ADENOMA 4, ACTH-SECRETING	PMID:22319033|PMID:23038625|PMID:24050928|PMID:25741868|PMID:26792934|PMID:27253664|PMID:28255869|PMID:28492532|PMID:29036195
8760578	Aip	AHR interacting HSP90 co-chaperone	gene	DOID:9001520	Symmetric Acroleukopathy		ISO	RGD:1354071	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acroleukopathy, symmetric	PMID:22319033|PMID:23038625|PMID:25741868|PMID:26792934|PMID:27253664|PMID:28255869|PMID:28492532|PMID:29036195
8760578	Aip	AHR interacting HSP90 co-chaperone	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8760578	Aip	AHR interacting HSP90 co-chaperone	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354071	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12213383|PMID:12810716|PMID:16199547|PMID:16542395|PMID:16728643|PMID:17244780|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18410548|PMID:19366855|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20454499|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20570174|PMID:20595802|PMID:20685857|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22024364|PMID:22287093|PMID:22319033|PMID:22527616|PMID:22720333|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:24789813|PMID:25019383|PMID:25093619|PMID:25136448|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29440248|PMID:29455389|PMID:29507682|PMID:29632148|PMID:29729370|PMID:29953972|PMID:30262796|PMID:30461320|PMID:30822274|PMID:30941100|PMID:31125088|PMID:32324286|PMID:32336638|PMID:32621582|PMID:33029249|PMID:34588620|PMID:35586626|PMID:35602875|PMID:37149543|PMID:38390203|PMID:5320367|PMID:9482716|PMID:9536098
8760578	Aip	AHR interacting HSP90 co-chaperone	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354071	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12213383|PMID:12810716|PMID:16199547|PMID:16542395|PMID:16728643|PMID:17244780|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18410548|PMID:19366855|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20454499|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20570174|PMID:20595802|PMID:20685857|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22024364|PMID:22287093|PMID:22319033|PMID:22527616|PMID:22720333|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:24789813|PMID:25019383|PMID:25093619|PMID:25136448|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29440248|PMID:29455389|PMID:29507682|PMID:29632148|PMID:29729370|PMID:29953972|PMID:30262796|PMID:30461320|PMID:30822274|PMID:30941100|PMID:31125088|PMID:31365626|PMID:32324286|PMID:32336638|PMID:32621582|PMID:33029249|PMID:34588620|PMID:35586626|PMID:35602875|PMID:37149543|PMID:38390203|PMID:5320367|PMID:9482716|PMID:9536098
8760578	Aip	AHR interacting HSP90 co-chaperone	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354071	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12213383|PMID:12810716|PMID:16199547|PMID:16542395|PMID:16728643|PMID:17244780|PMID:17360484|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18410548|PMID:19366855|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20570174|PMID:20685857|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21753072|PMID:2200621|PMID:22024364|PMID:22287093|PMID:22319033|PMID:22720333|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:24789813|PMID:25093619|PMID:25136448|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29440248|PMID:29455389|PMID:29507682|PMID:29632148|PMID:29729370|PMID:30461320|PMID:30822274|PMID:30941100|PMID:31365626|PMID:32324286|PMID:32621582|PMID:33029249|PMID:33057194|PMID:34588620|PMID:35586626|PMID:35602875|PMID:36149413|PMID:5320367|PMID:9482716|PMID:9536098
8760578	Aip	AHR interacting HSP90 co-chaperone	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354071	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12213383|PMID:16199547|PMID:16728643|PMID:17244780|PMID:17360484|PMID:17576681|PMID:17609395|PMID:18381572|PMID:19366855|PMID:19556287|PMID:19684062|PMID:20354355|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20570174|PMID:20595802|PMID:20685857|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:22024364|PMID:22287093|PMID:22319033|PMID:22720333|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24789813|PMID:25019383|PMID:25093619|PMID:25136448|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25614825|PMID:25741868|PMID:26186299|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28492532|PMID:29074612|PMID:29440248|PMID:29455389|PMID:29632148|PMID:30461320|PMID:30941100|PMID:32621582|PMID:33029249|PMID:33057194|PMID:34588620|PMID:35586626|PMID:36149413|PMID:37149543|PMID:38390203|PMID:5320367|PMID:9536098
8760578	Aip	AHR interacting HSP90 co-chaperone	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354071	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12213383|PMID:16199547|PMID:16728643|PMID:17244780|PMID:17360484|PMID:17576681|PMID:17609395|PMID:18381572|PMID:19366855|PMID:19556287|PMID:19684062|PMID:20354355|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20570174|PMID:20595802|PMID:20685857|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:22024364|PMID:22287093|PMID:22319033|PMID:22720333|PMID:23038625|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24789813|PMID:25019383|PMID:25093619|PMID:25136448|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28492532|PMID:29036195|PMID:29074612|PMID:29440248|PMID:29455389|PMID:29632148|PMID:30461320|PMID:30941100|PMID:32621582|PMID:33029249|PMID:33057194|PMID:34588620|PMID:35586626|PMID:36149413|PMID:37149543|PMID:38390203|PMID:5320367|PMID:9536098
8760578	Aip	AHR interacting HSP90 co-chaperone	gene	DOID:9007671	Familial Isolated Pituitary Adenoma		ISO	RGD:1354071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial isolated pituitary adenoma	PMID:24050928|PMID:25741868|PMID:26186299|PMID:28492532
8760578	Aip	AHR interacting HSP90 co-chaperone	gene	DOID:9834	hyperopia		ISO	RGD:1354071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
8760599	Ahsa1	activator of HSP90 ATPase activity 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8760599	Ahsa1	activator of HSP90 ATPase activity 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8760599	Ahsa1	activator of HSP90 ATPase activity 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8760599	Ahsa1	activator of HSP90 ATPase activity 1	gene	DOID:1115	sarcoma		ISO	RGD:1346562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8760599	Ahsa1	activator of HSP90 ATPase activity 1	gene	DOID:1909	melanoma		ISO	RGD:1346562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8760599	Ahsa1	activator of HSP90 ATPase activity 1	gene	DOID:3070	high grade glioma		ISO	RGD:1346562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8760599	Ahsa1	activator of HSP90 ATPase activity 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760599	Ahsa1	activator of HSP90 ATPase activity 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1346562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8760599	Ahsa1	activator of HSP90 ATPase activity 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8760621	Elovl2	ELOVL fatty acid elongase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8760621	Elovl2	ELOVL fatty acid elongase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8760621	Elovl2	ELOVL fatty acid elongase 2	gene	DOID:12336	male infertility		ISO	RGD:1318475	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21106902
8760621	Elovl2	ELOVL fatty acid elongase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760621	Elovl2	ELOVL fatty acid elongase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8760646	Usp31	ubiquitin specific peptidase 31	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8760646	Usp31	ubiquitin specific peptidase 31	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1317813	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
8760646	Usp31	ubiquitin specific peptidase 31	gene	DOID:10534	stomach cancer		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8760646	Usp31	ubiquitin specific peptidase 31	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8760646	Usp31	ubiquitin specific peptidase 31	gene	DOID:1324	lung cancer		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8760646	Usp31	ubiquitin specific peptidase 31	gene	DOID:1909	melanoma		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8760646	Usp31	ubiquitin specific peptidase 31	gene	DOID:4362	cervical cancer		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8760646	Usp31	ubiquitin specific peptidase 31	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8760646	Usp31	ubiquitin specific peptidase 31	gene	DOID:5041	esophageal cancer		ISO	RGD:1317813	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8760646	Usp31	ubiquitin specific peptidase 31	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8760646	Usp31	ubiquitin specific peptidase 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760646	Usp31	ubiquitin specific peptidase 31	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8760646	Usp31	ubiquitin specific peptidase 31	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8760646	Usp31	ubiquitin specific peptidase 31	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8760666	Gcn1	GCN1 activator of EIF2AK4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8760666	Gcn1	GCN1 activator of EIF2AK4	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1312843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868|PMID:31680123
8760666	Gcn1	GCN1 activator of EIF2AK4	gene	DOID:10534	stomach cancer		ISO	RGD:1312843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8760666	Gcn1	GCN1 activator of EIF2AK4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8760666	Gcn1	GCN1 activator of EIF2AK4	gene	DOID:1115	sarcoma		ISO	RGD:1312843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8760666	Gcn1	GCN1 activator of EIF2AK4	gene	DOID:1324	lung cancer		ISO	RGD:1312843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8760666	Gcn1	GCN1 activator of EIF2AK4	gene	DOID:1909	melanoma		ISO	RGD:1312843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8760666	Gcn1	GCN1 activator of EIF2AK4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8760666	Gcn1	GCN1 activator of EIF2AK4	gene	DOID:3070	high grade glioma		ISO	RGD:1312843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8760666	Gcn1	GCN1 activator of EIF2AK4	gene	DOID:3275	thymoma		ISO	RGD:1312843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8760666	Gcn1	GCN1 activator of EIF2AK4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8760666	Gcn1	GCN1 activator of EIF2AK4	gene	DOID:4362	cervical cancer		ISO	RGD:1312843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8760666	Gcn1	GCN1 activator of EIF2AK4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8760666	Gcn1	GCN1 activator of EIF2AK4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760666	Gcn1	GCN1 activator of EIF2AK4	gene	DOID:6039	uveal melanoma		ISO	RGD:1312843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8760666	Gcn1	GCN1 activator of EIF2AK4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8760666	Gcn1	GCN1 activator of EIF2AK4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8760666	Gcn1	GCN1 activator of EIF2AK4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8760666	Gcn1	GCN1 activator of EIF2AK4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8760666	Gcn1	GCN1 activator of EIF2AK4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8760666	Gcn1	GCN1 activator of EIF2AK4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8760666	Gcn1	GCN1 activator of EIF2AK4	gene	DOID:9256	colorectal cancer		ISO	RGD:1312843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8760721	Kcnk18	potassium two pore domain channel subfamily K member 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8760721	Kcnk18	potassium two pore domain channel subfamily K member 18	gene	DOID:6364	migraine		ISO	RGD:1346775	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: KCNK18-related condition | ClinVar Annotator: match by term: Migraine, with or without aura, susceptibility to, 13 | ClinVar Annotator: match by term: migraine, with or without aura, susceptibility to, 13	PMID:20871611|PMID:25741868|PMID:28492532|PMID:30573346
8760721	Kcnk18	potassium two pore domain channel subfamily K member 18	gene	DOID:6364	migraine	susceptibility	ISO	RGD:1346775	D	RGD:7240710	20220216	OMIM			
8760726	Usp45	ubiquitin specific peptidase 45	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8760726	Usp45	ubiquitin specific peptidase 45	gene	DOID:0081169	Leber congenital amaurosis 19		ISO	RGD:1322181	D	RGD:7240710	20190814	OMIM			
8760726	Usp45	ubiquitin specific peptidase 45	gene	DOID:0081169	Leber congenital amaurosis 19		ISO	RGD:1322181	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis 19	PMID:25741868
8760726	Usp45	ubiquitin specific peptidase 45	gene	DOID:10534	stomach cancer		ISO	RGD:1322181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8760726	Usp45	ubiquitin specific peptidase 45	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1322181	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:25741868
8760726	Usp45	ubiquitin specific peptidase 45	gene	DOID:1909	melanoma		ISO	RGD:1322181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8760726	Usp45	ubiquitin specific peptidase 45	gene	DOID:2394	ovarian cancer		ISO	RGD:1322181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8760726	Usp45	ubiquitin specific peptidase 45	gene	DOID:3275	thymoma		ISO	RGD:1322181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8760726	Usp45	ubiquitin specific peptidase 45	gene	DOID:4362	cervical cancer		ISO	RGD:1322181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8760726	Usp45	ubiquitin specific peptidase 45	gene	DOID:5041	esophageal cancer		ISO	RGD:1322181	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8760726	Usp45	ubiquitin specific peptidase 45	gene	DOID:5679	retinal disease		ISO	RGD:1322181	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:25741868
8760726	Usp45	ubiquitin specific peptidase 45	gene	DOID:5723	optic atrophy		ISO	RGD:1322181	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8760726	Usp45	ubiquitin specific peptidase 45	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760726	Usp45	ubiquitin specific peptidase 45	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8760726	Usp45	ubiquitin specific peptidase 45	gene	DOID:8501	fundus dystrophy		ISO	RGD:1322181	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:31345219
8760726	Usp45	ubiquitin specific peptidase 45	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8760726	Usp45	ubiquitin specific peptidase 45	gene	DOID:9007661	Dwarfism		ISO	RGD:1322181	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
8760726	Usp45	ubiquitin specific peptidase 45	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8760726	Usp45	ubiquitin specific peptidase 45	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8760757	Vamp7	vesicle associated membrane protein 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8760757	Vamp7	vesicle associated membrane protein 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8760757	Vamp7	vesicle associated membrane protein 7	gene	DOID:0060058	lymphoma		ISO	RGD:1350434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8760757	Vamp7	vesicle associated membrane protein 7	gene	DOID:10534	stomach cancer		ISO	RGD:1350434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8760757	Vamp7	vesicle associated membrane protein 7	gene	DOID:11166	Human papillomavirus infectious disease		ISO	RGD:1350434	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23358896
8760757	Vamp7	vesicle associated membrane protein 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1350434	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8760757	Vamp7	vesicle associated membrane protein 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350434	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23358896
8760757	Vamp7	vesicle associated membrane protein 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8760757	Vamp7	vesicle associated membrane protein 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8760775	Cfap141	cilia and flagella associated protein 141	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760780	Dennd4b	DENN domain containing 4B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8760780	Dennd4b	DENN domain containing 4B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8760780	Dennd4b	DENN domain containing 4B	gene	DOID:10534	stomach cancer		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8760780	Dennd4b	DENN domain containing 4B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8760780	Dennd4b	DENN domain containing 4B	gene	DOID:1115	sarcoma		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8760780	Dennd4b	DENN domain containing 4B	gene	DOID:1324	lung cancer		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8760780	Dennd4b	DENN domain containing 4B	gene	DOID:1909	melanoma		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8760780	Dennd4b	DENN domain containing 4B	gene	DOID:2394	ovarian cancer		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8760780	Dennd4b	DENN domain containing 4B	gene	DOID:4362	cervical cancer		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8760780	Dennd4b	DENN domain containing 4B	gene	DOID:5041	esophageal cancer		ISO	RGD:1344276	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8760780	Dennd4b	DENN domain containing 4B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760780	Dennd4b	DENN domain containing 4B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8760780	Dennd4b	DENN domain containing 4B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8760780	Dennd4b	DENN domain containing 4B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8760780	Dennd4b	DENN domain containing 4B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1344276	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
8760780	Dennd4b	DENN domain containing 4B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8760780	Dennd4b	DENN domain containing 4B	gene	DOID:9007661	Dwarfism		ISO	RGD:1344276	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Short stature	
8760780	Dennd4b	DENN domain containing 4B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8760819	Tas1r3	taste 1 receptor member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1344836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8760819	Tas1r3	taste 1 receptor member 3	gene	DOID:12336	male infertility		ISO	RGD:1344836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23818598
8760819	Tas1r3	taste 1 receptor member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1344836	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8760819	Tas1r3	taste 1 receptor member 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8760819	Tas1r3	taste 1 receptor member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8760819	Tas1r3	taste 1 receptor member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8760819	Tas1r3	taste 1 receptor member 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1344836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8760829	Znf76	zinc finger protein 76	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8760829	Znf76	zinc finger protein 76	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8760829	Znf76	zinc finger protein 76	gene	DOID:1324	lung cancer		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8760829	Znf76	zinc finger protein 76	gene	DOID:3070	high grade glioma		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8760829	Znf76	zinc finger protein 76	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8760829	Znf76	zinc finger protein 76	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8760829	Znf76	zinc finger protein 76	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760829	Znf76	zinc finger protein 76	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8760829	Znf76	zinc finger protein 76	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8760855	Gfod2	Gfo/Idh/MocA-like oxidoreductase domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8760855	Gfod2	Gfo/Idh/MocA-like oxidoreductase domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1604583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8760855	Gfod2	Gfo/Idh/MocA-like oxidoreductase domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8760855	Gfod2	Gfo/Idh/MocA-like oxidoreductase domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760855	Gfod2	Gfo/Idh/MocA-like oxidoreductase domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8760873	Npm3	nucleophosmin/nucleoplasmin 3	gene	DOID:1909	melanoma		ISO	RGD:1349032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8760873	Npm3	nucleophosmin/nucleoplasmin 3	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1349032	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8760873	Npm3	nucleophosmin/nucleoplasmin 3	gene	DOID:4362	cervical cancer		ISO	RGD:1349032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8760873	Npm3	nucleophosmin/nucleoplasmin 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1349032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8760873	Npm3	nucleophosmin/nucleoplasmin 3	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1349032	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8760873	Npm3	nucleophosmin/nucleoplasmin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8760889	Adipor2	adiponectin receptor 2	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	ISO	RGD:1307891	D	RGD:9068941	20200609	RGD			PMID:26115886|REF_RGD_ID:25330099
8760889	Adipor2	adiponectin receptor 2	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	ISO	RGD:1317350	D	RGD:9068941	20200609	RGD			PMID:18755807|PMID:22013387|PMID:27220557|REF_RGD_ID:25440493|REF_RGD_ID:25824939|REF_RGD_ID:25824943
8760889	Adipor2	adiponectin receptor 2	gene	DOID:0070658	alcohol-associated liver disease	treatment	ISO	RGD:1307891	D	RGD:9068941	20200609	RGD			PMID:24797033|REF_RGD_ID:25824940
8760889	Adipor2	adiponectin receptor 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1307891	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:17006986|REF_RGD_ID:1599139
8760889	Adipor2	adiponectin receptor 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	severity	ISO	RGD:1317349	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:19422483|REF_RGD_ID:25440492
8760889	Adipor2	adiponectin receptor 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	susceptibility	ISO	RGD:1317349	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds: (human)	PMID:25345946|REF_RGD_ID:24922200
8760889	Adipor2	adiponectin receptor 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	susceptibility	ISO	RGD:1317350	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:serum, liver (mouse)	PMID:29569260|REF_RGD_ID:24922201
8760889	Adipor2	adiponectin receptor 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:1307891	D	RGD:9068941	20200609	RGD			PMID:25536648|PMID:26770322|REF_RGD_ID:25330097|REF_RGD_ID:25824941
8760889	Adipor2	adiponectin receptor 2	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:1317350	D	RGD:9068941	20200609	RGD		associated with obesity;protein:decreased expression:liver (mouse)	PMID:19763702|REF_RGD_ID:25330094
8760889	Adipor2	adiponectin receptor 2	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	susceptibility	ISO	RGD:1307891	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:20606728|REF_RGD_ID:21076282
8760889	Adipor2	adiponectin receptor 2	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:1307891	D	RGD:9068941	20200609	RGD			PMID:20965162|REF_RGD_ID:25440494
8760889	Adipor2	adiponectin receptor 2	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:1307891	D	RGD:9068941	20200609	RGD		associated with obesity	PMID:30131158|REF_RGD_ID:25824942
8760889	Adipor2	adiponectin receptor 2	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:1317350	D	RGD:9068941	20200609	RGD			PMID:18666257|REF_RGD_ID:25330095
8760889	Adipor2	adiponectin receptor 2	gene	DOID:10603	glucose intolerance	treatment	ISO	RGD:1307891	D	RGD:9068941	20200609	RGD			PMID:23797890|REF_RGD_ID:25330096
8760889	Adipor2	adiponectin receptor 2	gene	DOID:1115	sarcoma		ISO	RGD:1317349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8760889	Adipor2	adiponectin receptor 2	gene	DOID:1324	lung cancer		ISO	RGD:1317349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8760889	Adipor2	adiponectin receptor 2	gene	DOID:1612	breast cancer	no_association	ISO	RGD:1317349	D	RGD:9068941	20200609	RGD			PMID:19723917|REF_RGD_ID:8694417
8760889	Adipor2	adiponectin receptor 2	gene	DOID:2018	hyperinsulinism		ISO	RGD:1307891	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skeletal muscle cell	PMID:16326833|REF_RGD_ID:1625765
8760889	Adipor2	adiponectin receptor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8760889	Adipor2	adiponectin receptor 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:1317350	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (mouse)	PMID:17006986|REF_RGD_ID:1599139
8760889	Adipor2	adiponectin receptor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760889	Adipor2	adiponectin receptor 2	gene	DOID:5844	myocardial infarction		ISO	RGD:1317350	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:heart left ventricle	PMID:16415076|REF_RGD_ID:1625764
8760889	Adipor2	adiponectin receptor 2	gene	DOID:783	end stage renal disease		ISO	RGD:1307891	D	RGD:9068941	20200609	RGD			PMID:24028144|REF_RGD_ID:8695941
8760889	Adipor2	adiponectin receptor 2	gene	DOID:9001573	Experimental Liver Cirrhosis	severity	ISO	RGD:1317350	D	RGD:9068941	20200609	RGD			PMID:29237572|REF_RGD_ID:24922203
8760889	Adipor2	adiponectin receptor 2	gene	DOID:9002231	Fetal Growth Retardation	treatment	ISO	RGD:1307891	D	RGD:9068941	20200609	RGD			PMID:23533720|REF_RGD_ID:8695947
8760889	Adipor2	adiponectin receptor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1307891	D	RGD:9068941	20200609	RGD			PMID:19220660|REF_RGD_ID:2312478
8760889	Adipor2	adiponectin receptor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1317350	D	RGD:9068941	20200609	RGD		Reduced Adipor2 mRNA in livers of diabetic mice	PMID:18222103|REF_RGD_ID:2312488
8760889	Adipor2	adiponectin receptor 2	gene	DOID:9005643	Experimental Diabetes Mellitus	no_association	ISO	RGD:1307891	D	RGD:9068941	20200609	RGD			PMID:17884446|REF_RGD_ID:2312495
8760889	Adipor2	adiponectin receptor 2	gene	DOID:9005930	Endotoxemia	severity	ISO	RGD:1307891	D	RGD:9068941	20200609	RGD		associated with obesity;mRNA:decreased expression:liver (rat)	PMID:23838384|REF_RGD_ID:8695926
8760889	Adipor2	adiponectin receptor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8760889	Adipor2	adiponectin receptor 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	severity	ISO	RGD:1307891	D	RGD:9068941	20200609	RGD		associated with obesity, LPS;mRNA:decreased expression:liver (rat)	PMID:23838384|REF_RGD_ID:8695926
8760889	Adipor2	adiponectin receptor 2	gene	DOID:9007456	Female Infertility		ISO	RGD:1317349	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22265003
8760889	Adipor2	adiponectin receptor 2	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:1307891	D	RGD:9068941	20200609	RGD			PMID:24797033|PMID:30225267|REF_RGD_ID:21406435|REF_RGD_ID:25824940
8760889	Adipor2	adiponectin receptor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8760889	Adipor2	adiponectin receptor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8760889	Adipor2	adiponectin receptor 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1317349	D	RGD:9068941	20200609	RGD		Allele A of +33371 A/G polymorphism for ADIPOR2 confers increased risk of T2DM in a Chinese population	PMID:18075289|REF_RGD_ID:2312490
8760889	Adipor2	adiponectin receptor 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1317349	D	RGD:9068941	20200609	RGD		Reduced expression of ADIPOR2 mRNA in muscle, which may contribute to insulin resistance	PMID:18363889|REF_RGD_ID:2312486
8760889	Adipor2	adiponectin receptor 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1317349	D	RGD:9068941	20200609	RGD		Russian population, 129 cases, 117 controls	PMID:18548168|REF_RGD_ID:2312480
8760889	Adipor2	adiponectin receptor 2	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:1317349	D	RGD:9068941	20200609	RGD		985 T2DM cases and 1050 controls, Chinese population, SNP association study	PMID:19631916|REF_RGD_ID:2312476
8760889	Adipor2	adiponectin receptor 2	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:1307891	D	RGD:9068941	20200609	RGD			PMID:30225267|REF_RGD_ID:21406435
8760889	Adipor2	adiponectin receptor 2	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:1307891	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:19076162|REF_RGD_ID:2307264
8760889	Adipor2	adiponectin receptor 2	gene	DOID:9970	obesity		ISO	RGD:1307891	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:16483885|REF_RGD_ID:1625763
8760889	Adipor2	adiponectin receptor 2	gene	DOID:9970	obesity	severity	ISO	RGD:1307891	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:23838384|REF_RGD_ID:8695926
8760889	Adipor2	adiponectin receptor 2	gene	DOID:9970	obesity	treatment	ISO	RGD:1307891	D	RGD:9068941	20200609	RGD			PMID:30225267|REF_RGD_ID:21406435
8760889	Adipor2	adiponectin receptor 2	gene	DOID:9970	obesity	treatment	ISO	RGD:1307891	D	RGD:9068941	20200609	RGD		associated with non-alcoholic fatty liver disease	PMID:30131158|REF_RGD_ID:25824942
8760901	Arf6	ARF GTPase 6	gene	DOID:1059	intellectual disability		ISO	RGD:734181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868
8760901	Arf6	ARF GTPase 6	gene	DOID:1115	sarcoma		ISO	RGD:734181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8760901	Arf6	ARF GTPase 6	gene	DOID:4362	cervical cancer		ISO	RGD:734181	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8760901	Arf6	ARF GTPase 6	gene	DOID:9001276	Failure to Thrive		ISO	RGD:734181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8760915	F8	coagulation factor VIII	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:16786531|PMID:25741868|PMID:29296726
8760915	F8	coagulation factor VIII	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8760915	F8	coagulation factor VIII	gene	DOID:0051061	stroke		ISO	RGD:1343567	D	RGD:9068941	20200609	RGD			PMID:15202164|REF_RGD_ID:1582360
8760915	F8	coagulation factor VIII	gene	DOID:0060574	von Willebrand's disease 2		ISO	RGD:1343567	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:16409463|REF_RGD_ID:10766469
8760915	F8	coagulation factor VIII	gene	DOID:0080600	COVID-19		ISO	RGD:1343567	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:35255492
8760915	F8	coagulation factor VIII	gene	DOID:0110124	Bardet-Biedl syndrome 2		ISO	RGD:1343567	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome 2	
8760915	F8	coagulation factor VIII	gene	DOID:0111823	autosomal hemophilia A		ISO	RGD:1343567	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A | ClinVar Annotator: match by term: HEMOPHILIA A, MILD	PMID:10910913|PMID:11442643|PMID:15921397|PMID:1908096|PMID:19473423|PMID:19719828|PMID:21592259|PMID:21645180|PMID:21645226|PMID:21883705|PMID:22103590|PMID:22958177|PMID:23625609|PMID:23711237|PMID:23926300|PMID:23961341|PMID:24108539|PMID:24118398|PMID:24134483|PMID:25741868|PMID:25854144|PMID:27380589|PMID:27704658|PMID:27868395|PMID:28252515|PMID:28492532|PMID:28748566|PMID:29357978|PMID:29381227|PMID:29388750|PMID:31064749|PMID:32166871|PMID:32224444|PMID:32935414|PMID:35014236|PMID:37647632|PMID:37711502|PMID:39125936|PMID:7728145|PMID:8307558|PMID:8639447
8760915	F8	coagulation factor VIII	gene	DOID:0111823	autosomal hemophilia A	treatment	ISO	RGD:1343567	D	RGD:9068941	20260404	RGD			PMID:31899798|REF_RGD_ID:150520060
8760915	F8	coagulation factor VIII	gene	DOID:10907	microcephaly		ISO	RGD:1343567	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8760915	F8	coagulation factor VIII	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8760915	F8	coagulation factor VIII	gene	DOID:1115	sarcoma		ISO	RGD:1343567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8760915	F8	coagulation factor VIII	gene	DOID:12134	factor VIII deficiency		ISO	RGD:1343567	D	RGD:7240710	20180130	OMIM			
8760915	F8	coagulation factor VIII	gene	DOID:12134	factor VIII deficiency		ISO	RGD:1343567	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: F8-related condition | ClinVar Annotator: match by term: FACTOR VIII (OKAYAMA) | ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency | ClinVar Annotator: match by term: HEMOPHILIA A	PMID:10215414|PMID:10404764|PMID:10607698|PMID:10691849|PMID:10910913|PMID:11157485|PMID:11246544|PMID:11251334|PMID:11298607|PMID:11341489|PMID:11410838|PMID:11442643|PMID:11554935|PMID:11754400|PMID:11857744|PMID:11858487|PMID:12139751|PMID:12204009|PMID:12871415|PMID:1301194|PMID:1301932|PMID:1412186|PMID:1523102|PMID:15471879|PMID:15741993|PMID:15810915|PMID:15921397|PMID:16086318|PMID:16128892|PMID:16173970|PMID:16601827|PMID:16769589|PMID:16786531|PMID:16834751|PMID:16972227|PMID:17209060|PMID:17286776|PMID:17445092|PMID:17498081|PMID:17550859|PMID:17610560|PMID:18034822|PMID:18179574|PMID:18371163|PMID:18387975|PMID:18479430|PMID:18481121|PMID:1851341|PMID:18691168|PMID:1908096|PMID:1923751|PMID:1924291|PMID:19302446|PMID:19369668|PMID:19456877|PMID:19473408|PMID:19473423|PMID:19548904|PMID:19686262|PMID:19719828|PMID:1973901|PMID:19740093|PMID:1979502|PMID:20028422|PMID:20102490|PMID:20148980|PMID:20236351|PMID:20300295|PMID:20331753|PMID:20331761|PMID:20431853|PMID:20533009|PMID:20860608|PMID:2104741|PMID:2104766|PMID:2105106|PMID:2105906|PMID:21070499|PMID:21166991|PMID:2121026|PMID:21217077|PMID:21592259|PMID:21645180|PMID:21645224|PMID:21645226|PMID:2166991|PMID:21751985|PMID:21838755|PMID:21883705|PMID:22103590|PMID:22958177|PMID:23020595|PMID:23088352|PMID:23403259|PMID:23467620|PMID:23551875|PMID:23601690|PMID:23711237|PMID:23711294|PMID:23812942|PMID:23913812|PMID:23926300|PMID:23961341|PMID:23963097|PMID:24108539|PMID:24118398|PMID:24134483|PMID:24452774|PMID:2473810|PMID:2495245|PMID:24953131|PMID:2506948|PMID:25550078|PMID:25652415|PMID:25741868|PMID:25824987|PMID:26057490|PMID:26147783|PMID:26245874|PMID:26308136|PMID:26879396|PMID:27734074|PMID:27868395|PMID:27943580|PMID:28056528|PMID:28252515|PMID:2833855|PMID:28492532|PMID:28748566|PMID:2901224|PMID:29170251|PMID:29296726|PMID:29381227|PMID:29388750|PMID:29490426|PMID:29732646|PMID:2993888|PMID:30046696|PMID:30507053|PMID:30690819|PMID:3097553|PMID:31064749|PMID:31197069|PMID:31361374|PMID:3137981|PMID:32026663|PMID:32100410|PMID:32166871|PMID:32190902|PMID:32224444|PMID:32232366|PMID:32497379|PMID:32497951|PMID:32685904|PMID:32897612|PMID:32935414|PMID:33077954|PMID:33245802|PMID:33254277|PMID:33275657|PMID:33477601|PMID:33600628|PMID:33706050|PMID:33760382|PMID:34242570|PMID:34272389|PMID:34355501|PMID:34788507|PMID:35014236|PMID:35743412|PMID:35770352|PMID:36007526|PMID:36213555|PMID:36696222|PMID:36833187|PMID:37285902|PMID:37647632|PMID:38196513|PMID:38339041|PMID:38578179|PMID:38759975|PMID:39125936|PMID:39260745|PMID:7579394|PMID:7728145|PMID:7794769|PMID:7959679|PMID:7984443|PMID:7986726|PMID:8011517|PMID:8307558|PMID:8485051|PMID:8490618|PMID:8547094|PMID:8639447|PMID:8644728|PMID:8759905|PMID:9292523|PMID:9305856|PMID:9326186|PMID:9341862|PMID:9594277|PMID:9603440|PMID:9829908|PMID:9864159|PMID:9886318
8760915	F8	coagulation factor VIII	gene	DOID:12134	factor VIII deficiency	treatment	ISO	RGD:1343567	D	RGD:9068941	20200609	RGD			PMID:10468616|REF_RGD_ID:10450757
8760915	F8	coagulation factor VIII	gene	DOID:12134	factor VIII deficiency	treatment	ISO	RGD:727845	D	RGD:9068941	20211029	RGD			PMID:31899798|REF_RGD_ID:150520060
8760915	F8	coagulation factor VIII	gene	DOID:12259	hemophilia B		ISO	RGD:1343567	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary factor IX deficiency disease	PMID:10519986|PMID:10691849|PMID:10896236|PMID:10910913|PMID:11102988|PMID:11298607|PMID:11341489|PMID:11410838|PMID:11442643|PMID:11554935|PMID:11843836|PMID:11857744|PMID:12204009|PMID:12325022|PMID:12871415|PMID:15471879|PMID:15569173|PMID:15810915|PMID:15921397|PMID:15996930|PMID:16128892|PMID:16173970|PMID:16601827|PMID:16769589|PMID:16786531|PMID:16834740|PMID:17445092|PMID:17610560|PMID:18403393|PMID:18600086|PMID:18691168|PMID:1908096|PMID:1924291|PMID:19302446|PMID:19473408|PMID:19473423|PMID:19548904|PMID:20102490|PMID:20193250|PMID:20300295|PMID:20331753|PMID:20533009|PMID:21070499|PMID:21371196|PMID:21645180|PMID:21883705|PMID:22103590|PMID:23625609|PMID:23711237|PMID:23812942|PMID:23913812|PMID:23926300|PMID:25741868|PMID:25854144|PMID:27380589|PMID:27704658|PMID:27943580|PMID:29296726|PMID:29381227|PMID:30913330|PMID:31064749|PMID:32166871|PMID:32224444|PMID:32897612|PMID:33245802|PMID:34015304|PMID:34844950|PMID:35014236|PMID:36823319|PMID:37647632|PMID:37711502|PMID:38196513|PMID:38455035|PMID:39125936|PMID:7728145|PMID:7794769|PMID:8307558|PMID:8644728|PMID:9292523
8760915	F8	coagulation factor VIII	gene	DOID:1247	blood coagulation disease		ISO	RGD:1343567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:15921397|PMID:21883705|PMID:22103590|PMID:22958177|PMID:23711237|PMID:23913812|PMID:23926300|PMID:25741868|PMID:25824987|PMID:29388750|PMID:31064749|PMID:37647632
8760915	F8	coagulation factor VIII	gene	DOID:1324	lung cancer		ISO	RGD:1343567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8760915	F8	coagulation factor VIII	gene	DOID:1459	hypothyroidism		ISO	RGD:1343567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:19473423|PMID:21371196
8760915	F8	coagulation factor VIII	gene	DOID:1909	melanoma		ISO	RGD:1343567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8760915	F8	coagulation factor VIII	gene	DOID:1969	cerebral palsy		ISO	RGD:1343567	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
8760915	F8	coagulation factor VIII	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1343567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:12871415|PMID:18217193|PMID:21166991|PMID:21910785|PMID:22103590|PMID:23926300|PMID:25741868|PMID:30997536|PMID:31064749
8760915	F8	coagulation factor VIII	gene	DOID:2215	factor VII deficiency		ISO	RGD:1343567	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Factor VII deficiency	PMID:25741868
8760915	F8	coagulation factor VIII	gene	DOID:2234	focal epilepsy		ISO	RGD:1343567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:21883705|PMID:25741868|PMID:37647632
8760915	F8	coagulation factor VIII	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8760915	F8	coagulation factor VIII	gene	DOID:2452	thrombophilia		ISO	RGD:1343567	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16628723
8760915	F8	coagulation factor VIII	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8760915	F8	coagulation factor VIII	gene	DOID:417	autoimmune disease		ISO	RGD:1343567	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11886462
8760915	F8	coagulation factor VIII	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8760915	F8	coagulation factor VIII	gene	DOID:5041	esophageal cancer		ISO	RGD:1343567	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8760915	F8	coagulation factor VIII	gene	DOID:520	aortic disease		ISO	RGD:1343567	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial aortopathy	PMID:10691849|PMID:17610560|PMID:18691168|PMID:1908096|PMID:19302446|PMID:19548904|PMID:23711237|PMID:25741868|PMID:27943580|PMID:29296726|PMID:31064749|PMID:32166871|PMID:32897612|PMID:33245802|PMID:35014236|PMID:38196513|PMID:9292523
8760915	F8	coagulation factor VIII	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760915	F8	coagulation factor VIII	gene	DOID:630	genetic disease		ISO	RGD:1343567	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19302446|PMID:19473423|PMID:19719828|PMID:2105906|PMID:21371196|PMID:21909383|PMID:23088352|PMID:23711294|PMID:23926300|PMID:24108539|PMID:24452774|PMID:25652415|PMID:25741868|PMID:26245874|PMID:27629384|PMID:30690819|PMID:35743412|PMID:35770352|PMID:36007526|PMID:8547094
8760915	F8	coagulation factor VIII	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8760915	F8	coagulation factor VIII	gene	DOID:801	hemarthrosis	treatment	ISO	RGD:727845	D	RGD:9068941	20211029	RGD			PMID:31899798|REF_RGD_ID:150520060
8760915	F8	coagulation factor VIII	gene	DOID:9000122	Pulmonary Surfactant Metabolism Dysfunction 3		ISO	RGD:1343567	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Interstitial lung disease due to ABCA3 deficiency	PMID:25741868
8760915	F8	coagulation factor VIII	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:727845	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:15748447|REF_RGD_ID:10450768
8760915	F8	coagulation factor VIII	gene	DOID:9001981	Weight Loss		ISO	RGD:1343567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:19473423|PMID:21371196
8760915	F8	coagulation factor VIII	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1343567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral hemorrhage	PMID:21883705|PMID:25741868|PMID:37647632
8760915	F8	coagulation factor VIII	gene	DOID:9003121	Thromboembolism		ISO	RGD:1343567	D	RGD:9068941	20200609	RGD			PMID:15634269|REF_RGD_ID:1582359
8760915	F8	coagulation factor VIII	gene	DOID:9003305	X-Linked Thrombophilia due to Factor VIII Defect		ISO	RGD:1343567	D	RGD:7240710	20220316	OMIM			
8760915	F8	coagulation factor VIII	gene	DOID:9003305	X-Linked Thrombophilia due to Factor VIII Defect		ISO	RGD:1343567	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT	PMID:10691849|PMID:11179760|PMID:11442643|PMID:15921397|PMID:16173970|PMID:16769589|PMID:17445092|PMID:17610560|PMID:18691168|PMID:1908096|PMID:19302446|PMID:19473423|PMID:19548904|PMID:19719828|PMID:20108391|PMID:20108401|PMID:20301578|PMID:21592259|PMID:21883705|PMID:22958177|PMID:23625609|PMID:23711237|PMID:23913812|PMID:23926300|PMID:23961341|PMID:24033266|PMID:24134483|PMID:25628142|PMID:25708597|PMID:25741868|PMID:25824987|PMID:25854144|PMID:25955082|PMID:26057490|PMID:26915717|PMID:27380589|PMID:27704658|PMID:27943580|PMID:28492532|PMID:29296726|PMID:29381227|PMID:31064749|PMID:32166871|PMID:32224444|PMID:32497379|PMID:32897612|PMID:32935414|PMID:33245802|PMID:34272389|PMID:35014236|PMID:35770352|PMID:36007526|PMID:37647632|PMID:37711502|PMID:38196513|PMID:39125936|PMID:39632590|PMID:7579394|PMID:7728145|PMID:7984443|PMID:8307558|PMID:9292523|PMID:9603440
8760915	F8	coagulation factor VIII	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1343567	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16875063
8760915	F8	coagulation factor VIII	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1343567	D	RGD:9068941	20200609	RGD			PMID:15634269|REF_RGD_ID:1582359
8760915	F8	coagulation factor VIII	gene	DOID:9004755	Hemophilic Arthropathy	treatment	ISO	RGD:727845	D	RGD:9068941	20211029	RGD			PMID:27060449|REF_RGD_ID:150520059
8760915	F8	coagulation factor VIII	gene	DOID:9005359	Hereditary Thrombophilia		ISO	RGD:1343567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary thrombophilia	
8760915	F8	coagulation factor VIII	gene	DOID:9005736	Pallor		ISO	RGD:1343567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pallor	
8760915	F8	coagulation factor VIII	gene	DOID:9005930	Endotoxemia		ISO	RGD:727845	D	RGD:9068941	20200609	RGD			PMID:11092686|REF_RGD_ID:7394782
8760915	F8	coagulation factor VIII	gene	DOID:9006035	Factor VIII Deficiency, Acquired		ISO	RGD:1343567	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11886462
8760915	F8	coagulation factor VIII	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
8760915	F8	coagulation factor VIII	gene	DOID:9008217	Hemorrhage		ISO	RGD:1343567	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bleeding | ClinVar Annotator: match by term: Hemorrhage	PMID:11442643|PMID:15921397|PMID:16173970|PMID:17445092|PMID:19473423|PMID:22958177|PMID:25741868|PMID:26057490|PMID:32497379|PMID:34272389|PMID:35770352|PMID:36007526|PMID:37647632|PMID:7984443|PMID:9603440
8760915	F8	coagulation factor VIII	gene	DOID:9008217	Hemorrhage	treatment	ISO	RGD:1343567	D	RGD:9068941	20200609	RGD			PMID:24931420|REF_RGD_ID:11530071
8760915	F8	coagulation factor VIII	gene	DOID:9008421	Epistaxis		ISO	RGD:1343567	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:1908096|PMID:1924291|PMID:19473423|PMID:21645180|PMID:21910785|PMID:23625609|PMID:23711237|PMID:25741868|PMID:25854144|PMID:27380589|PMID:27704658|PMID:31064749|PMID:32166871|PMID:32224444|PMID:37711502|PMID:39125936|PMID:7728145
8760915	F8	coagulation factor VIII	gene	DOID:9008622	Adrenal Insufficiency		ISO	RGD:1343567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal insufficiency	PMID:19473423|PMID:21371196
8760915	F8	coagulation factor VIII	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:10609755|PMID:11189482|PMID:21645226|PMID:24108539
8760915	F8	coagulation factor VIII	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:727845	D	RGD:9068941	20200609	RGD			PMID:16046705|REF_RGD_ID:1601105
8760915	F8	coagulation factor VIII	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1343567	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (human)	PMID:7974333|REF_RGD_ID:2312416
8760968	Rpa3	replication protein A3	gene	DOID:1909	melanoma		ISO	RGD:1315635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8760968	Rpa3	replication protein A3	gene	DOID:4362	cervical cancer		ISO	RGD:1315635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8760968	Rpa3	replication protein A3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8760968	Rpa3	replication protein A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8760976	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8760976	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:0060058	lymphoma		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8760976	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1601877	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8760976	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8760976	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8760976	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:13620	patent foramen ovale		ISO	RGD:1601877	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: patent foramen ovale	PMID:32641753
8760976	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:3275	thymoma		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8760976	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8760976	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8760976	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1601877	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8760976	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8760976	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8760976	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8760976	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8760976	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8761020	Necab3	N-terminal EF-hand calcium binding protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8761020	Necab3	N-terminal EF-hand calcium binding protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761020	Necab3	N-terminal EF-hand calcium binding protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8761020	Necab3	N-terminal EF-hand calcium binding protein 3	gene	DOID:1909	melanoma		ISO	RGD:1320847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8761020	Necab3	N-terminal EF-hand calcium binding protein 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8761020	Necab3	N-terminal EF-hand calcium binding protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761020	Necab3	N-terminal EF-hand calcium binding protein 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1320847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8761020	Necab3	N-terminal EF-hand calcium binding protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8761052	Tyk2	tyrosine kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8761052	Tyk2	tyrosine kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8761052	Tyk2	tyrosine kinase 2	gene	DOID:0080600	COVID-19		ISO	RGD:1316192	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:33307546
8761052	Tyk2	tyrosine kinase 2	gene	DOID:0111989	immunodeficiency 35		ISO	RGD:1316192	D	RGD:7240710	20180130	OMIM			
8761052	Tyk2	tyrosine kinase 2	gene	DOID:0111989	immunodeficiency 35		ISO	RGD:1316192	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 35 | ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency | ClinVar Annotator: match by term: Tyrosine kinase 2 deficiency	PMID:14500783|PMID:16199547|PMID:17088085|PMID:17576681|PMID:21680795|PMID:22402565|PMID:22744673|PMID:25388448|PMID:25741868|PMID:25849893|PMID:26304966|PMID:26513235|PMID:27872624|PMID:28492532|PMID:29725107|PMID:31118190|PMID:32707200|PMID:34569645|PMID:36094518|PMID:9536098
8761052	Tyk2	tyrosine kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8761052	Tyk2	tyrosine kinase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8761052	Tyk2	tyrosine kinase 2	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1316192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22961000
8761052	Tyk2	tyrosine kinase 2	gene	DOID:12849	autistic disorder		ISO	RGD:1316192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20957522
8761052	Tyk2	tyrosine kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1316192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8761052	Tyk2	tyrosine kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1316192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8761052	Tyk2	tyrosine kinase 2	gene	DOID:2377	multiple sclerosis		ISO	RGD:1316192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19525955
8761052	Tyk2	tyrosine kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1316192	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8761052	Tyk2	tyrosine kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8761052	Tyk2	tyrosine kinase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8761052	Tyk2	tyrosine kinase 2	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1316192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23471820
8761052	Tyk2	tyrosine kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316192	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761052	Tyk2	tyrosine kinase 2	gene	DOID:630	genetic disease		ISO	RGD:1316192	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8761052	Tyk2	tyrosine kinase 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1316192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143596|PMID:30224649
8761052	Tyk2	tyrosine kinase 2	gene	DOID:8778	Crohn's disease		ISO	RGD:1316192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21102463
8761052	Tyk2	tyrosine kinase 2	gene	DOID:8893	psoriasis		ISO	RGD:1316192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20953190
8761052	Tyk2	tyrosine kinase 2	gene	DOID:9004890	Paranoid Disorders		ISO	RGD:1316192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
8761052	Tyk2	tyrosine kinase 2	gene	DOID:9004890	Paranoid Disorders	susceptibility	ISO	RGD:1316192	D	RGD:9068941	20231102	RGD		associated with cocaine dependence; DNA:SNP:: (rs280521) (human)	PMID:18438686|REF_RGD_ID:401851917
8761052	Tyk2	tyrosine kinase 2	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1316192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
8761052	Tyk2	tyrosine kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8761052	Tyk2	tyrosine kinase 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1316192	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Virus-induced diabetes	PMID:26288847
8761052	Tyk2	tyrosine kinase 2	gene	DOID:9970	obesity		ISO	RGD:1316193	D	RGD:9068941	20220825	MouseDO		OMIM:601665	
8761095	Naaladl2	N-acetylated alpha-linked acidic dipeptidase like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8761095	Naaladl2	N-acetylated alpha-linked acidic dipeptidase like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761095	Naaladl2	N-acetylated alpha-linked acidic dipeptidase like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8761095	Naaladl2	N-acetylated alpha-linked acidic dipeptidase like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8761095	Naaladl2	N-acetylated alpha-linked acidic dipeptidase like 2	gene	DOID:3070	high grade glioma		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8761095	Naaladl2	N-acetylated alpha-linked acidic dipeptidase like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8761095	Naaladl2	N-acetylated alpha-linked acidic dipeptidase like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606935	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8761095	Naaladl2	N-acetylated alpha-linked acidic dipeptidase like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761095	Naaladl2	N-acetylated alpha-linked acidic dipeptidase like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8761121	Gas7	growth arrest specific 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761121	Gas7	growth arrest specific 7	gene	DOID:10534	stomach cancer		ISO	RGD:1349821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8761121	Gas7	growth arrest specific 7	gene	DOID:1324	lung cancer		ISO	RGD:1349821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8761121	Gas7	growth arrest specific 7	gene	DOID:1909	melanoma		ISO	RGD:1349821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8761121	Gas7	growth arrest specific 7	gene	DOID:3275	thymoma		ISO	RGD:1349821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8761121	Gas7	growth arrest specific 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1349821	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8761121	Gas7	growth arrest specific 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761121	Gas7	growth arrest specific 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8761121	Gas7	growth arrest specific 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8761121	Gas7	growth arrest specific 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8761121	Gas7	growth arrest specific 7	gene	DOID:9970	obesity		ISO	RGD:1349821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270708
8761180	Wdr26	WD repeat domain 26	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8761180	Wdr26	WD repeat domain 26	gene	DOID:0050847	sleep apnea		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	
8761180	Wdr26	WD repeat domain 26	gene	DOID:0060058	lymphoma		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8761180	Wdr26	WD repeat domain 26	gene	DOID:1059	intellectual disability		ISO	RGD:1348746	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8761180	Wdr26	WD repeat domain 26	gene	DOID:12128	pica disease		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pica	PMID:25741868
8761180	Wdr26	WD repeat domain 26	gene	DOID:1324	lung cancer		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8761180	Wdr26	WD repeat domain 26	gene	DOID:13250	diarrhea		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	
8761180	Wdr26	WD repeat domain 26	gene	DOID:2340	craniosynostosis		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	
8761180	Wdr26	WD repeat domain 26	gene	DOID:2843	long QT syndrome		ISO	RGD:1348746	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8761180	Wdr26	WD repeat domain 26	gene	DOID:4362	cervical cancer		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8761180	Wdr26	WD repeat domain 26	gene	DOID:5041	esophageal cancer		ISO	RGD:1348746	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8761180	Wdr26	WD repeat domain 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761180	Wdr26	WD repeat domain 26	gene	DOID:630	genetic disease		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28518168|PMID:32461654
8761180	Wdr26	WD repeat domain 26	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8761180	Wdr26	WD repeat domain 26	gene	DOID:9006821	Skraban-Deardorff Syndrome		ISO	RGD:1348746	D	RGD:7240710	20190315	OMIM			
8761180	Wdr26	WD repeat domain 26	gene	DOID:9006821	Skraban-Deardorff Syndrome		ISO	RGD:1348746	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DISABILITY WITH SEIZURES, ABNORMAL GAIT, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: SKRABAN-DEARDORFF SYNDROME | ClinVar Annotator: match by term: Skraban-Deardorff syndrome | ClinVar Annotator: match by term: WDR26-related condition	PMID:25741868|PMID:25741869|PMID:28492532|PMID:36269129|PMID:39363971|PMID:40436861
8761180	Wdr26	WD repeat domain 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8761180	Wdr26	WD repeat domain 26	gene	DOID:9008582	Developmental Disease		ISO	RGD:1348746	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8761180	Wdr26	WD repeat domain 26	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8761204	Cped1	cadherin like and PC-esterase domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8761204	Cped1	cadherin like and PC-esterase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761204	Cped1	cadherin like and PC-esterase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8761204	Cped1	cadherin like and PC-esterase domain containing 1	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:1605333	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23349890
8761204	Cped1	cadherin like and PC-esterase domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8761204	Cped1	cadherin like and PC-esterase domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8761204	Cped1	cadherin like and PC-esterase domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8761204	Cped1	cadherin like and PC-esterase domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8761204	Cped1	cadherin like and PC-esterase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8761204	Cped1	cadherin like and PC-esterase domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8761204	Cped1	cadherin like and PC-esterase domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8761204	Cped1	cadherin like and PC-esterase domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605333	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8761204	Cped1	cadherin like and PC-esterase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761204	Cped1	cadherin like and PC-esterase domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8761204	Cped1	cadherin like and PC-esterase domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8761204	Cped1	cadherin like and PC-esterase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8761204	Cped1	cadherin like and PC-esterase domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8761234	Rnf113a	ring finger protein 113A	gene	DOID:0111868	nonphotosensitive trichothiodystrophy 5		ISO	RGD:1344435	D	RGD:7240710	20180130	OMIM			
8761234	Rnf113a	ring finger protein 113A	gene	DOID:0111868	nonphotosensitive trichothiodystrophy 5		ISO	RGD:1344435	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RNF113A-related condition | ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE | ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive	PMID:25741868|PMID:28492532|PMID:29144457
8761239	Sycp2	synaptonemal complex protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:69483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8761239	Sycp2	synaptonemal complex protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:69483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761239	Sycp2	synaptonemal complex protein 2	gene	DOID:0070188	spermatogenic failure 1		ISO	RGD:69483	D	RGD:7240710	20200318	OMIM			
8761239	Sycp2	synaptonemal complex protein 2	gene	DOID:0070188	spermatogenic failure 1		ISO	RGD:69483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oligosynaptic infertility | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 1 | ClinVar Annotator: match by term: SYCP2-related condition	PMID:25741868
8761239	Sycp2	synaptonemal complex protein 2	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:69483	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:25741868
8761239	Sycp2	synaptonemal complex protein 2	gene	DOID:10283	prostate cancer		ISO	RGD:69483	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8761239	Sycp2	synaptonemal complex protein 2	gene	DOID:10283	prostate cancer		ISO	RGD:69483	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8761239	Sycp2	synaptonemal complex protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:69483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8761239	Sycp2	synaptonemal complex protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:69483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8761239	Sycp2	synaptonemal complex protein 2	gene	DOID:1324	lung cancer		ISO	RGD:69483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8761239	Sycp2	synaptonemal complex protein 2	gene	DOID:1909	melanoma		ISO	RGD:69483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8761239	Sycp2	synaptonemal complex protein 2	gene	DOID:3275	thymoma		ISO	RGD:69483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8761239	Sycp2	synaptonemal complex protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:69483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8761239	Sycp2	synaptonemal complex protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:69483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8761239	Sycp2	synaptonemal complex protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:69483	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8761239	Sycp2	synaptonemal complex protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761239	Sycp2	synaptonemal complex protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:69483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8761239	Sycp2	synaptonemal complex protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8761239	Sycp2	synaptonemal complex protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8761239	Sycp2	synaptonemal complex protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:69483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8761287	Slc52a3	solute carrier family 52 member 3	gene	DOID:0050694	Brown-Vialetto-Van Laere syndrome		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Brown-Vialetto-Van laere syndrome | ClinVar Annotator: match by term: PONTOBULBAR PALSY WITH DEAFNESS	PMID:20206331|PMID:21512156|PMID:23243084|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28856173|PMID:29053833|PMID:29961494|PMID:30553531|PMID:34395718|PMID:37116404
8761287	Slc52a3	solute carrier family 52 member 3	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
8761287	Slc52a3	solute carrier family 52 member 3	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1312203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28220687
8761287	Slc52a3	solute carrier family 52 member 3	gene	DOID:0080632	Fazio-Londe disease		ISO	RGD:1312203	D	RGD:7240710	20200311	OMIM			
8761287	Slc52a3	solute carrier family 52 member 3	gene	DOID:0080632	Fazio-Londe disease		ISO	RGD:1312203	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Childhood Progressive Bulbar Palsy | ClinVar Annotator: match by term: Progressive bulbar palsy of childhood	PMID:20206331|PMID:20920669|PMID:21110228|PMID:22273710|PMID:22718020|PMID:22824638|PMID:23243084|PMID:23688382|PMID:24033266|PMID:25462087|PMID:25741868|PMID:28492532|PMID:29053833|PMID:29950502|PMID:29961494|PMID:30553531|PMID:33189404|PMID:34662687
8761287	Slc52a3	solute carrier family 52 member 3	gene	DOID:0080785	Brown-Vialetto-Van Laere syndrome 1		ISO	RGD:1312203	D	RGD:7240710	20190320	OMIM			
8761287	Slc52a3	solute carrier family 52 member 3	gene	DOID:0080785	Brown-Vialetto-Van Laere syndrome 1		ISO	RGD:1312203	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BROWN-VIALETTO-VAN LAERE SYNDROME 1 | ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 1 | ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1	PMID:16199547|PMID:17576681|PMID:2020633|PMID:20206331|PMID:20920669|PMID:21110228|PMID:21512156|PMID:22273710|PMID:22633641|PMID:22718020|PMID:22740598|PMID:22824638|PMID:23243084|PMID:23506902|PMID:23688382|PMID:24033266|PMID:25462087|PMID:25741868|PMID:26072523|PMID:26443808|PMID:27777325|PMID:28492532|PMID:28856173|PMID:29053833|PMID:29950502|PMID:29961494|PMID:30553531|PMID:33087424|PMID:33189404|PMID:33325104|PMID:34395718|PMID:34662687|PMID:37116404|PMID:9536098
8761287	Slc52a3	solute carrier family 52 member 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:21512156|PMID:28492532|PMID:28856173
8761287	Slc52a3	solute carrier family 52 member 3	gene	DOID:1324	lung cancer		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8761287	Slc52a3	solute carrier family 52 member 3	gene	DOID:231	motor neuron disease		ISO	RGD:1312203	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Madras motor neuron disease	PMID:25741868|PMID:28492532|PMID:32579787
8761287	Slc52a3	solute carrier family 52 member 3	gene	DOID:2841	asthma		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:21512156|PMID:28492532|PMID:28856173
8761287	Slc52a3	solute carrier family 52 member 3	gene	DOID:3275	thymoma		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8761287	Slc52a3	solute carrier family 52 member 3	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1312203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20729853
8761287	Slc52a3	solute carrier family 52 member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8761287	Slc52a3	solute carrier family 52 member 3	gene	DOID:630	genetic disease		ISO	RGD:1312203	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20206331|PMID:20920669|PMID:21110228|PMID:21512156|PMID:22824638|PMID:23506902|PMID:23688382|PMID:24033266|PMID:25462087|PMID:25741868|PMID:27777325|PMID:28492532|PMID:28856173|PMID:29053833|PMID:29961494|PMID:33087424|PMID:34395718|PMID:34662687|PMID:37116404
8761287	Slc52a3	solute carrier family 52 member 3	gene	DOID:681	progressive bulbar palsy		ISO	RGD:1312203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8761287	Slc52a3	solute carrier family 52 member 3	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:21512156|PMID:28492532|PMID:28856173
8761287	Slc52a3	solute carrier family 52 member 3	gene	DOID:9001890	Auditory Neuropathy		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Auditory neuropathy	
8761287	Slc52a3	solute carrier family 52 member 3	gene	DOID:9003133	Hypertelorism		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:21512156|PMID:28492532|PMID:28856173
8761287	Slc52a3	solute carrier family 52 member 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:21512156|PMID:28492532|PMID:28856173
8761287	Slc52a3	solute carrier family 52 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8761287	Slc52a3	solute carrier family 52 member 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21512156|PMID:28492532|PMID:28856173
8761319	Ldb2	LIM domain binding 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761319	Ldb2	LIM domain binding 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:9536098
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:30959811|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:35413566|PMID:9536098
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:30959811|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:35413566|PMID:37178278|PMID:9536098
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25326637|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:30959811|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:35413566|PMID:35600473|PMID:37178278|PMID:9536098
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:30959811|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:35413566|PMID:35600473|PMID:37178278|PMID:9536098
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27005929|PMID:27332903|PMID:27532257|PMID:27854218|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28798025|PMID:28917552|PMID:29121657|PMID:29247119|PMID:29253866|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:30878466|PMID:30959811|PMID:31110529|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32233023|PMID:32646569|PMID:32681253|PMID:32746448|PMID:32789579|PMID:33029862|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:33876311|PMID:33895855|PMID:34362124|PMID:35026164|PMID:35413566|PMID:35588295|PMID:35600473|PMID:37178278|PMID:9536098
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24123366|PMID:24503780|PMID:24558114|PMID:24938736|PMID:2526523|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27005929|PMID:27332903|PMID:27532257|PMID:27621313|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28798025|PMID:28917552|PMID:29121657|PMID:29247119|PMID:29253866|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:30878466|PMID:30959811|PMID:31110529|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31785789|PMID:31838722|PMID:31977013|PMID:32009526|PMID:32150461|PMID:32233023|PMID:32259713|PMID:32646569|PMID:32681253|PMID:32746448|PMID:32789579|PMID:33029862|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33726816|PMID:33762593|PMID:33876311|PMID:33895855|PMID:34362124|PMID:35026164|PMID:35352813|PMID:35413566|PMID:35470680|PMID:35588295|PMID:35600473|PMID:35838873|PMID:37178278|PMID:37904629|PMID:762819|PMID:9536098
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:11748095|PMID:14519435|PMID:14722619|PMID:15673802|PMID:15877279|PMID:17576681|PMID:22555271|PMID:23778007|PMID:23992123|PMID:24033266|PMID:24123366|PMID:24558114|PMID:25611685|PMID:25741868|PMID:27005929|PMID:27332903|PMID:27532257|PMID:27621313|PMID:28087566|PMID:28138913|PMID:28301460|PMID:28341588|PMID:28492532|PMID:28498465|PMID:28707430|PMID:29121657|PMID:29875424|PMID:29884292|PMID:30122538|PMID:30847666|PMID:30878466|PMID:31527676|PMID:31785789|PMID:31977013|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32746448|PMID:33495597|PMID:33762593|PMID:33895855|PMID:35352813|PMID:37178278|PMID:37904629|PMID:38270345|PMID:39584259|PMID:9536098
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0060319	cardiac arrest		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrest	PMID:24033266|PMID:25741868|PMID:28492532|PMID:31527676
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:25326637|PMID:25741868|PMID:25997934|PMID:27532257|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28917552|PMID:29298659|PMID:30847666|PMID:31513939|PMID:31737537|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806|PMID:33762593
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:33762593|PMID:33895855|PMID:35581137
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0090101	lethal congenital glycogen storage disease of heart		ISO	RGD:1346463	D	RGD:7240710	20180130	OMIM			
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0090101	lethal congenital glycogen storage disease of heart		ISO	RGD:1346463	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL | ClinVar Annotator: match by term: Glycogen storage disease of heart, lethal congenital | ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart | ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF HEART	PMID:11371514|PMID:11407343|PMID:11748095|PMID:14519435|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15877279|PMID:16199547|PMID:16487706|PMID:16716659|PMID:16836667|PMID:17576681|PMID:18403758|PMID:20031621|PMID:22555271|PMID:23741347|PMID:23778007|PMID:23992123|PMID:24033266|PMID:25611685|PMID:25640679|PMID:25741868|PMID:25997934|PMID:26085771|PMID:26284702|PMID:27189955|PMID:27532257|PMID:27621313|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28546535|PMID:28690312|PMID:28801758|PMID:29121657|PMID:29875424|PMID:30122538|PMID:30206291|PMID:30847666|PMID:30878466|PMID:31527676|PMID:32009526|PMID:32150461|PMID:32215636|PMID:32259713|PMID:32646569|PMID:32746448|PMID:32880476|PMID:33495597|PMID:33762593|PMID:33895855|PMID:36252119|PMID:37178278|PMID:37477868|PMID:38270345|PMID:39273120|PMID:9536098
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1346463	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:25326637|PMID:25741868|PMID:25997934|PMID:27532257|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28917552|PMID:29298659|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31737537|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806|PMID:33762593
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1346463	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:25741868|PMID:25997934|PMID:27532257|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28917552|PMID:29298659|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31737537|PMID:32681253|PMID:33029862|PMID:33244021|PMID:33673806|PMID:33762593|PMID:33895855|PMID:37904629
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1346463	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1	PMID:25741868
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0110312	hypertrophic cardiomyopathy 6		ISO	RGD:1346463	D	RGD:7240710	20180130	OMIM			
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0110312	hypertrophic cardiomyopathy 6		ISO	RGD:1346463	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 6 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 6 | ClinVar Annotator: match by term: PRKAG2-related cardiomyopathy	PMID:10355918|PMID:10820940|PMID:11371514|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16487706|PMID:16686673|PMID:16716659|PMID:16836667|PMID:17483151|PMID:17597581|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18403758|PMID:19787389|PMID:19808419|PMID:20005292|PMID:20031621|PMID:20381067|PMID:20600102|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:25092788|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26085771|PMID:26729852|PMID:27189955|PMID:27532257|PMID:27573176|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28798025|PMID:28917552|PMID:29253866|PMID:29298659|PMID:29875424|PMID:30165862|PMID:30336887|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31838722|PMID:32314121|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33029862|PMID:33244021|PMID:33673806|PMID:33762593|PMID:33876311|PMID:33895855|PMID:35588295|PMID:35600473|PMID:37904629|PMID:7657794
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0110312	hypertrophic cardiomyopathy 6		ISO	RGD:1346463	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 6 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 6 | ClinVar Annotator: match by term: PRKAG2-related cardiomyopathy	PMID:11371514|PMID:11407343|PMID:11827995|PMID:14519435|PMID:14722619|PMID:15611370|PMID:15673802|PMID:16487706|PMID:16716659|PMID:16836667|PMID:17597581|PMID:19787389|PMID:20005292|PMID:20600102|PMID:22555271|PMID:23778007|PMID:23992123|PMID:24033266|PMID:25092788|PMID:25741868|PMID:25997934|PMID:26729852|PMID:27532257|PMID:28431061|PMID:28492532|PMID:28498465|PMID:30847666|PMID:31527676|PMID:32646569|PMID:32746448|PMID:33495597|PMID:33762593|PMID:33895855|PMID:37178278
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0111101	renal cysts and diabetes syndrome		ISO	RGD:1346463	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Renal cysts and diabetes syndrome	PMID:23778007|PMID:23992123|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28498465
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:10534	stomach cancer		ISO	RGD:1346463	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:11748095|PMID:14722619|PMID:15877279|PMID:25611685|PMID:25741868|PMID:27621313|PMID:28492532|PMID:28801758
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic | ClinVar Annotator: match by term: Hypertrophic Cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:11407343|PMID:11407351|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16487706|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17597581|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18403758|PMID:19808419|PMID:20005292|PMID:20031621|PMID:20600102|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:25092788|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26085771|PMID:26333379|PMID:26496977|PMID:26729852|PMID:27532257|PMID:27573176|PMID:27600940|PMID:27621313|PMID:27864312|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28801758|PMID:28917552|PMID:29121657|PMID:29247119|PMID:29298659|PMID:29875424|PMID:30165862|PMID:30336887|PMID:30775854|PMID:30847666|PMID:30878466|PMID:31513939|PMID:31737537|PMID:32009526|PMID:32150461|PMID:32259713|PMID:32314121|PMID:32646569|PMID:32681253|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:33895855|PMID:34362124|PMID:37178278|PMID:37466024|PMID:38270345|PMID:9536098
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:1324	lung cancer		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:1909	melanoma		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:2747	glycogen storage disease		ISO	RGD:1346463	D	RGD:9068941	20200609	RGD			PMID:15877279|REF_RGD_ID:1580717
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:24033266|PMID:25741868|PMID:28492532|PMID:31527676
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:3275	thymoma		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1346463	D	RGD:7240710	20180130	OMIM			
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1346463	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:25741868|PMID:25997934|PMID:27532257|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29253866|PMID:29298659|PMID:32746448
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1346463	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: False bundle branch block syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16339829|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24352254|PMID:24503780|PMID:24558114|PMID:25741868|PMID:25997934|PMID:27532257|PMID:27621313|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29121657|PMID:29253866|PMID:29298659|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31838722|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1346463	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: False bundle branch block syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16339829|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24352254|PMID:24558114|PMID:25741868|PMID:25997934|PMID:27532257|PMID:27621313|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31838722|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806|PMID:33762593
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1346463	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: False bundle branch block syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16339829|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24352254|PMID:24558114|PMID:25741868|PMID:25997934|PMID:27532257|PMID:27621313|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30847666|PMID:30959811|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31838722|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806|PMID:33762593|PMID:35600473
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1346463	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: False bundle branch block syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16339829|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24352254|PMID:24503780|PMID:24558114|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26333379|PMID:26496977|PMID:27532257|PMID:27600940|PMID:27621313|PMID:27864312|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28798025|PMID:28917552|PMID:29121657|PMID:29253866|PMID:29298659|PMID:29875424|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31513939|PMID:31737537|PMID:31838722|PMID:32150461|PMID:32233023|PMID:32259713|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33029862|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:33876311|PMID:33895855|PMID:35588295|PMID:35600473|PMID:37198425|PMID:37904629
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1346463	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: False bundle branch block syndrome | ClinVar Annotator: match by term: WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:11407343|PMID:11748095|PMID:14519435|PMID:14722619|PMID:15877279|PMID:16339829|PMID:22555271|PMID:23778007|PMID:23992123|PMID:24033266|PMID:24352254|PMID:25741868|PMID:27532257|PMID:27621313|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28554332|PMID:29121657|PMID:30847666|PMID:30959811|PMID:31527676|PMID:31589614|PMID:32646569|PMID:33762593|PMID:33895855|PMID:37496383
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:6000	congestive heart failure		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congestive heart failure	PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:24033266|PMID:25741868|PMID:28492532|PMID:31527676
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1346463	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:25741868|PMID:28492532|PMID:39584259
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:24033266|PMID:25741868|PMID:28492532|PMID:31527676
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:9007033	Ventricular Premature Complexes		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ventricular contraction	PMID:24033266|PMID:25741868|PMID:28492532|PMID:31527676
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8761351	Prkag2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8761374	Nkiras1	NFKB inhibitor interacting Ras like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761374	Nkiras1	NFKB inhibitor interacting Ras like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8761374	Nkiras1	NFKB inhibitor interacting Ras like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8761374	Nkiras1	NFKB inhibitor interacting Ras like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	PMID:25741868
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:0060249	scoliosis		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:19481195|PMID:19877176|PMID:25741868|PMID:28492532|PMID:33135300
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:0060604	ankyloglossia		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ankyloglossia	PMID:25741868
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:0111568	congenital vertical talus		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital vertical talus	PMID:19481195|PMID:19877176|PMID:25741868|PMID:28492532|PMID:33135300
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:11963	esophagitis		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophagitis	PMID:25741868
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:1909	melanoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:3275	thymoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1603688	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:630	genetic disease		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hashimoto thyroiditis	PMID:25741868
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:33726816
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9003163	Heart Block		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart block	PMID:25741868
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9004266	Patellar Dislocation		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patellar dislocation	PMID:19481195|PMID:19877176|PMID:25741868|PMID:28492532|PMID:33135300
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:19481195|PMID:19877176|PMID:25741868|PMID:28492532|PMID:33135300|PMID:33726816
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:19481195|PMID:19877176|PMID:25741868|PMID:28492532|PMID:33135300
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9005349	Three M Syndrome 1		ISO	RGD:1603688	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: 3M syndrome 1	PMID:25741868|PMID:30980518
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9006598	Three M Syndrome 2		ISO	RGD:1603688	D	RGD:7240710	20180130	OMIM			
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9006598	Three M Syndrome 2		ISO	RGD:1603688	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: 3M syndrome 2	PMID:16531729|PMID:17681982|PMID:19481195|PMID:19877176|PMID:20164589|PMID:25741868|PMID:25923536|PMID:26627873|PMID:27796265|PMID:27959697|PMID:28492532|PMID:28969986|PMID:30980518|PMID:33135300
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9006598	Three M Syndrome 2		ISO	RGD:1603688	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: 3M syndrome 2 | ClinVar Annotator: match by term: OBSL1-related condition | ClinVar Annotator: match by term: THREE M SYNDROME 2 | ClinVar Annotator: match by term: Three M syndrome 2	PMID:16199547|PMID:17681982|PMID:19481195|PMID:19877176|PMID:20164589|PMID:25741868|PMID:26627873|PMID:27959697|PMID:28492532|PMID:28969986|PMID:33135300|PMID:33726816|PMID:33919104|PMID:36999085|PMID:37520055|PMID:37780995|PMID:38407006
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8761393	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9008965	Bronchomalacia		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchomalacia	PMID:25741868
8761417	Trim26	tripartite motif containing 26	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8761417	Trim26	tripartite motif containing 26	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761417	Trim26	tripartite motif containing 26	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8761417	Trim26	tripartite motif containing 26	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8761417	Trim26	tripartite motif containing 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761417	Trim26	tripartite motif containing 26	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8761417	Trim26	tripartite motif containing 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8761417	Trim26	tripartite motif containing 26	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8761417	Trim26	tripartite motif containing 26	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8761432	Shcbp1	SHC binding and spindle associated 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761432	Shcbp1	SHC binding and spindle associated 1	gene	DOID:0080600	COVID-19		ISO	RGD:1354140	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8761432	Shcbp1	SHC binding and spindle associated 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8761432	Shcbp1	SHC binding and spindle associated 1	gene	DOID:1115	sarcoma		ISO	RGD:1354140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8761432	Shcbp1	SHC binding and spindle associated 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8761432	Shcbp1	SHC binding and spindle associated 1	gene	DOID:3275	thymoma		ISO	RGD:1354140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8761432	Shcbp1	SHC binding and spindle associated 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8761432	Shcbp1	SHC binding and spindle associated 1	gene	DOID:4362	cervical cancer		ISO	RGD:1354140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8761432	Shcbp1	SHC binding and spindle associated 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8761432	Shcbp1	SHC binding and spindle associated 1	gene	DOID:5485	synovial sarcoma		ISO	RGD:1354140	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27572315
8761432	Shcbp1	SHC binding and spindle associated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761432	Shcbp1	SHC binding and spindle associated 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1354140	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8761432	Shcbp1	SHC binding and spindle associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8761432	Shcbp1	SHC binding and spindle associated 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8761451	Atxn1l	ataxin 1 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1626546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8761451	Atxn1l	ataxin 1 like	gene	DOID:10534	stomach cancer		ISO	RGD:1626546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8761451	Atxn1l	ataxin 1 like	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1626546	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17322884
8761451	Atxn1l	ataxin 1 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1626546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8761460	Ppp3cb	protein phosphatase 3 catalytic subunit beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8761460	Ppp3cb	protein phosphatase 3 catalytic subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:733965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8761460	Ppp3cb	protein phosphatase 3 catalytic subunit beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8761460	Ppp3cb	protein phosphatase 3 catalytic subunit beta	gene	DOID:1115	sarcoma		ISO	RGD:733965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8761460	Ppp3cb	protein phosphatase 3 catalytic subunit beta	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:733965	D	RGD:9068941	20200609	RGD			PMID:26436650|REF_RGD_ID:13515117
8761460	Ppp3cb	protein phosphatase 3 catalytic subunit beta	gene	DOID:1324	lung cancer		ISO	RGD:733965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8761460	Ppp3cb	protein phosphatase 3 catalytic subunit beta	gene	DOID:1712	aortic valve stenosis		ISO	RGD:733965	D	RGD:9068941	20200609	RGD			PMID:15533858|REF_RGD_ID:1580704
8761460	Ppp3cb	protein phosphatase 3 catalytic subunit beta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8761460	Ppp3cb	protein phosphatase 3 catalytic subunit beta	gene	DOID:3275	thymoma		ISO	RGD:733965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8761460	Ppp3cb	protein phosphatase 3 catalytic subunit beta	gene	DOID:5041	esophageal cancer		ISO	RGD:733965	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8761460	Ppp3cb	protein phosphatase 3 catalytic subunit beta	gene	DOID:5419	schizophrenia		ISO	RGD:3383	D	RGD:9068941	20200609	RGD			PMID:29214423|REF_RGD_ID:13515120
8761460	Ppp3cb	protein phosphatase 3 catalytic subunit beta	gene	DOID:5419	schizophrenia		ISO	RGD:733965	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:brain	PMID:15820226|REF_RGD_ID:13515121
8761460	Ppp3cb	protein phosphatase 3 catalytic subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761460	Ppp3cb	protein phosphatase 3 catalytic subunit beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8761460	Ppp3cb	protein phosphatase 3 catalytic subunit beta	gene	DOID:893	Wilson disease		ISO	RGD:733965	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23519153
8761460	Ppp3cb	protein phosphatase 3 catalytic subunit beta	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:11135	D	RGD:9068941	20200609	RGD			PMID:14615291|REF_RGD_ID:1580705
8761460	Ppp3cb	protein phosphatase 3 catalytic subunit beta	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:11135	D	RGD:9068941	20200609	RGD			PMID:9568714|REF_RGD_ID:1579956
8761460	Ppp3cb	protein phosphatase 3 catalytic subunit beta	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:733965	D	RGD:9068941	20200609	RGD			PMID:16688406|REF_RGD_ID:1580706
8761460	Ppp3cb	protein phosphatase 3 catalytic subunit beta	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:11135	D	RGD:9068941	20200609	RGD			PMID:9568714|REF_RGD_ID:1579956
8761460	Ppp3cb	protein phosphatase 3 catalytic subunit beta	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:3383	D	RGD:9068941	20200609	RGD			PMID:16496058|REF_RGD_ID:1580703
8761460	Ppp3cb	protein phosphatase 3 catalytic subunit beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8761497	Isl2	ISL LIM homeobox 2	gene	DOID:10534	stomach cancer		ISO	RGD:732662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8761509	Med20	mediator complex subunit 20	gene	DOID:5041	esophageal cancer		ISO	RGD:1606323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8761524	Jaml	junction adhesion molecule like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761524	Jaml	junction adhesion molecule like	gene	DOID:10534	stomach cancer		ISO	RGD:1344740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8761524	Jaml	junction adhesion molecule like	gene	DOID:1115	sarcoma		ISO	RGD:1344740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8761524	Jaml	junction adhesion molecule like	gene	DOID:1324	lung cancer		ISO	RGD:1344740	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8761524	Jaml	junction adhesion molecule like	gene	DOID:4362	cervical cancer		ISO	RGD:1344740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8761524	Jaml	junction adhesion molecule like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8761524	Jaml	junction adhesion molecule like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8761524	Jaml	junction adhesion molecule like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8761541	Adam15	ADAM metallopeptidase domain 15	gene	DOID:0080600	COVID-19		ISO	RGD:733223	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8761541	Adam15	ADAM metallopeptidase domain 15	gene	DOID:1793	pancreatic cancer		ISO	RGD:733223	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas, epithelial cell	PMID:17465204|REF_RGD_ID:2325247
8761541	Adam15	ADAM metallopeptidase domain 15	gene	DOID:8398	osteoarthritis		ISO	RGD:733224	D	RGD:9068941	20200609	RGD			PMID:15818704|REF_RGD_ID:1559176
8761541	Adam15	ADAM metallopeptidase domain 15	gene	DOID:9004756	Brain Hypoxia		ISO	RGD:620402	D	RGD:9068941	20200609	RGD			PMID:22230263|REF_RGD_ID:13703065
8761605	Cul2	cullin 2	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1321670	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21983784
8761605	Cul2	cullin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761605	Cul2	cullin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321670	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8761605	Cul2	cullin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8761605	Cul2	cullin 2	gene	DOID:1324	lung cancer		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8761605	Cul2	cullin 2	gene	DOID:1909	melanoma		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8761605	Cul2	cullin 2	gene	DOID:3070	high grade glioma		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8761605	Cul2	cullin 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8761605	Cul2	cullin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8761605	Cul2	cullin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321670	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8761605	Cul2	cullin 2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8761605	Cul2	cullin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761605	Cul2	cullin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8761605	Cul2	cullin 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8761605	Cul2	cullin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8761605	Cul2	cullin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8761605	Cul2	cullin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8761605	Cul2	cullin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8761633	Myzap	myocardial zonula adherens protein	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:5509958	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8761633	Myzap	myocardial zonula adherens protein	gene	DOID:9008711	Dilated Cardiomyopathy 2K		ISO	RGD:5509958	D	RGD:7240710	20240717	OMIM			
8761661	Cntrl	centriolin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8761661	Cntrl	centriolin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761661	Cntrl	centriolin	gene	DOID:0060058	lymphoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8761661	Cntrl	centriolin	gene	DOID:10534	stomach cancer		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8761661	Cntrl	centriolin	gene	DOID:1115	sarcoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8761661	Cntrl	centriolin	gene	DOID:12712	nephronophthisis		ISO	RGD:1557555	D	RGD:9068941	20220825	MouseDO			
8761661	Cntrl	centriolin	gene	DOID:2394	ovarian cancer		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8761661	Cntrl	centriolin	gene	DOID:3275	thymoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8761661	Cntrl	centriolin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8761661	Cntrl	centriolin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8761661	Cntrl	centriolin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8761661	Cntrl	centriolin	gene	DOID:5041	esophageal cancer		ISO	RGD:1313275	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8761661	Cntrl	centriolin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8761661	Cntrl	centriolin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761661	Cntrl	centriolin	gene	DOID:6039	uveal melanoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8761661	Cntrl	centriolin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8761661	Cntrl	centriolin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8761661	Cntrl	centriolin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8761661	Cntrl	centriolin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8761661	Cntrl	centriolin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8761709	Sfxn5	sideroflexin 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8761709	Sfxn5	sideroflexin 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761709	Sfxn5	sideroflexin 5	gene	DOID:0060058	lymphoma		ISO	RGD:1343188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8761709	Sfxn5	sideroflexin 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8761709	Sfxn5	sideroflexin 5	gene	DOID:1115	sarcoma		ISO	RGD:1343188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8761709	Sfxn5	sideroflexin 5	gene	DOID:1909	melanoma		ISO	RGD:1343188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8761709	Sfxn5	sideroflexin 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1343188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8761709	Sfxn5	sideroflexin 5	gene	DOID:4362	cervical cancer		ISO	RGD:1343188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8761709	Sfxn5	sideroflexin 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8761709	Sfxn5	sideroflexin 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1343188	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8761709	Sfxn5	sideroflexin 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8761709	Sfxn5	sideroflexin 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761709	Sfxn5	sideroflexin 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8761709	Sfxn5	sideroflexin 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8761709	Sfxn5	sideroflexin 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8761709	Sfxn5	sideroflexin 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8761737	Slc48a1	solute carrier family 48 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761737	Slc48a1	solute carrier family 48 member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8761737	Slc48a1	solute carrier family 48 member 1	gene	DOID:3275	thymoma		ISO	RGD:1604345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8761737	Slc48a1	solute carrier family 48 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761737	Slc48a1	solute carrier family 48 member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8761737	Slc48a1	solute carrier family 48 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:0111834	X-linked reticulate pigmentary disorder		ISO	RGD:732365	D	RGD:7240710	20190315	OMIM			
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:0111834	X-linked reticulate pigmentary disorder		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED | ClinVar Annotator: match by term: POLA1-related condition | ClinVar Annotator: match by term: Pigmentary disorder, reticulate, with systemic manifestations, X-linked | ClinVar Annotator: match by term: X-linked reticulate pigmentary disorder	PMID:17576681|PMID:25741868|PMID:27019227|PMID:28492532|PMID:31301121|PMID:32185379|PMID:9536098
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:0111840	Van Esch-O'Driscoll syndrome		ISO	RGD:732365	D	RGD:7240710	20190821	OMIM			
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:0111840	Van Esch-O'Driscoll syndrome		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: VAN ESCH-O'DRISCOLL SYNDROME | ClinVar Annotator: match by term: Van Esch-O'Driscoll syndrome | ClinVar Annotator: match by term: X-linked intellectual disability, Van Esch type | ClinVar Annotator: match by term: X-linked intellectual disability, van Esch type	PMID:25741868|PMID:27019227|PMID:28492532|PMID:31006512|PMID:31301121
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:10534	stomach cancer		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:12449	aplastic anemia		ISO	RGD:732365	D	RGD:8554872	20240521	ClinVar		ClinVar Annotator: match by term: Inherited aplastic anemia	PMID:25741868
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:12450	pancytopenia		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:25741868
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:1324	lung cancer		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:1588	thrombocytopenia		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:1909	melanoma		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:1924	hypogonadism		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:3070	high grade glioma		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:3275	thymoma		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:4362	cervical cancer		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:4961	bone marrow disease		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	PMID:25741868
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:732365	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:6039	uveal melanoma		ISO	RGD:732365	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:630	genetic disease		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:9000065	Myopia 25, Autosomal Dominant		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia 25, autosomal dominant	PMID:25741868
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: spasticity	
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:9008681	Deafness		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:25741868
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8761762	Pola1	DNA polymerase alpha 1, catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:732365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8761807	Trub1	TruB pseudouridine synthase family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761807	Trub1	TruB pseudouridine synthase family member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8761807	Trub1	TruB pseudouridine synthase family member 1	gene	DOID:3275	thymoma		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8761807	Trub1	TruB pseudouridine synthase family member 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8761807	Trub1	TruB pseudouridine synthase family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8761807	Trub1	TruB pseudouridine synthase family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318307	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8761807	Trub1	TruB pseudouridine synthase family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761807	Trub1	TruB pseudouridine synthase family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8761807	Trub1	TruB pseudouridine synthase family member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8761819	Tmem67	transmembrane protein 67	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1316347	D	RGD:9068941	20220825	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
8761819	Tmem67	transmembrane protein 67	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:19763152|PMID:20232449|PMID:20307669|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21633164|PMID:21866095|PMID:22277662|PMID:22406018|PMID:22700954|PMID:22773737|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24039893|PMID:25326635|PMID:25412400|PMID:25741868|PMID:26035863|PMID:26075130|PMID:26092869|PMID:26123494|PMID:26191240|PMID:26260382|PMID:26275793|PMID:26467025|PMID:26729329|PMID:27434533|PMID:28125082|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28771248|PMID:29096039|PMID:29146704|PMID:29261186|PMID:29568536|PMID:29947050|PMID:29974258|PMID:30403813|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31589614|PMID:31730820|PMID:31738409|PMID:32000717|PMID:32058062|PMID:32483926|PMID:33532864|PMID:34032358|PMID:34426522|PMID:34448047|PMID:34645491|PMID:34675960|PMID:34731008|PMID:34964473|PMID:35140360|PMID:35229910|PMID:35506549|PMID:35764379|PMID:36008300|PMID:36090483|PMID:36221156|PMID:36703223|PMID:36938085|PMID:37730223|PMID:9536098
8761819	Tmem67	transmembrane protein 67	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Meckel Gruber syndrome | ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:16199547|PMID:17160906|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21633164|PMID:22277662|PMID:22700954|PMID:22773737|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24033266|PMID:24039893|PMID:25326635|PMID:25412400|PMID:25741868|PMID:26035863|PMID:26092869|PMID:26191240|PMID:26467025|PMID:26729329|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28771248|PMID:29096039|PMID:29146704|PMID:29568536|PMID:29974258|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32483926|PMID:34426522|PMID:34448047|PMID:34645491|PMID:34675960|PMID:34964473|PMID:36938085|PMID:9536098
8761819	Tmem67	transmembrane protein 67	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:16199547|PMID:19540516|PMID:20232449|PMID:23559409|PMID:28492532
8761819	Tmem67	transmembrane protein 67	gene	DOID:0050952	spastic ataxia		ISO	RGD:1606753	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
8761819	Tmem67	transmembrane protein 67	gene	DOID:0060340	ciliopathy		ISO	RGD:1606753	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Ciliopathy | ClinVar Annotator: match by term: ciliopathy	PMID:25741868|PMID:28492532|PMID:28771248
8761819	Tmem67	transmembrane protein 67	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1606753	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1	PMID:17377820|PMID:17397051|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:24033266|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28492532|PMID:29891882|PMID:9375913
8761819	Tmem67	transmembrane protein 67	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1606753	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome	PMID:17160906|PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:22700954|PMID:23034536|PMID:23351400|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29891882|PMID:9375913
8761819	Tmem67	transmembrane protein 67	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1606753	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome	PMID:16199547|PMID:16541367|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:22277662|PMID:22700954|PMID:22773737|PMID:23034536|PMID:23351400|PMID:23559409|PMID:25326635|PMID:25412400|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28771248|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29568536|PMID:29891882|PMID:29974258|PMID:30476936|PMID:34032358|PMID:34964473|PMID:36938085|PMID:9375913|PMID:9536098
8761819	Tmem67	transmembrane protein 67	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome type 1	PMID:16199547|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:21633164|PMID:21866095|PMID:22277662|PMID:22700954|PMID:22773737|PMID:23034536|PMID:23351400|PMID:23559409|PMID:25326635|PMID:25412400|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26467025|PMID:26729329|PMID:27894351|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28771248|PMID:28973083|PMID:29096039|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29568536|PMID:29891882|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32483926|PMID:34426522|PMID:34448047|PMID:34645491|PMID:34675960|PMID:34964473|PMID:36938085|PMID:9375913|PMID:9536098
8761819	Tmem67	transmembrane protein 67	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome	PMID:16199547|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19540516|PMID:19574260|PMID:20232449|PMID:21633164|PMID:22277662|PMID:22700954|PMID:22773737|PMID:23034536|PMID:23351400|PMID:23559409|PMID:25326635|PMID:25412400|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26729329|PMID:28431631|PMID:28492532|PMID:28771248|PMID:29096039|PMID:29146704|PMID:29568536|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32483926|PMID:34426522|PMID:34448047|PMID:34645491|PMID:34675960|PMID:34964473|PMID:36938085|PMID:9536098
8761819	Tmem67	transmembrane protein 67	gene	DOID:0070117	Meckel syndrome 3		ISO	RGD:1606753	D	RGD:7240710	20180130	OMIM			
8761819	Tmem67	transmembrane protein 67	gene	DOID:0070117	Meckel syndrome 3		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MECKEL SYNDROME 3 | ClinVar Annotator: match by term: MECKEL SYNDROME, TYPE 3 | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Meckel syndrome type 3 | ClinVar Annotator: match by term: Meckel syndrome, type 3	PMID:16199547|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21493627|PMID:22277662|PMID:22700954|PMID:22773737|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24039893|PMID:25741868|PMID:26035863|PMID:26092869|PMID:26191240|PMID:26275793|PMID:26467025|PMID:26729329|PMID:28431631|PMID:28492532|PMID:28680603|PMID:28771248|PMID:29096039|PMID:29146704|PMID:29261186|PMID:29974258|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31411728|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32483926|PMID:34032358|PMID:34426522|PMID:34448047|PMID:34645491|PMID:34675960|PMID:34964473|PMID:36938085|PMID:9536098
8761819	Tmem67	transmembrane protein 67	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:20232449|PMID:21068128|PMID:23559409|PMID:25741868|PMID:28492532
8761819	Tmem67	transmembrane protein 67	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:20232449|PMID:21068128|PMID:23559409|PMID:25741868|PMID:28492532
8761819	Tmem67	transmembrane protein 67	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1606753	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome	PMID:25741868|PMID:28492532
8761819	Tmem67	transmembrane protein 67	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease	PMID:19058225|PMID:20232449|PMID:23559409|PMID:25741868|PMID:26092869|PMID:26729329|PMID:28431631|PMID:28492532|PMID:29146704
8761819	Tmem67	transmembrane protein 67	gene	DOID:0110136	Bardet-Biedl syndrome 14		ISO	RGD:1606753	D	RGD:7240710	20180130	OMIM			
8761819	Tmem67	transmembrane protein 67	gene	DOID:0110136	Bardet-Biedl syndrome 14		ISO	RGD:1606753	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome 14	PMID:17397051|PMID:18327255|PMID:18414213|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28492532|PMID:29127258
8761819	Tmem67	transmembrane protein 67	gene	DOID:0110136	Bardet-Biedl syndrome 14		ISO	RGD:1606753	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome 14	PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:23351400|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29891882|PMID:9375913
8761819	Tmem67	transmembrane protein 67	gene	DOID:0110136	Bardet-Biedl syndrome 14		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome 14	PMID:17160906|PMID:17576681|PMID:18327255|PMID:19058225|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21493627|PMID:22277662|PMID:22700954|PMID:22773737|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24039893|PMID:25741868|PMID:26035863|PMID:26092869|PMID:26191240|PMID:26729329|PMID:28431631|PMID:28492532|PMID:28680603|PMID:28771248|PMID:29096039|PMID:29146704|PMID:29974258|PMID:30476936|PMID:31730820|PMID:32000717|PMID:34032358|PMID:36938085|PMID:9536098
8761819	Tmem67	transmembrane protein 67	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1586167	D	RGD:9068941	20201211	RGD			PMID:11095650|PMID:15052665|PMID:30705305|REF_RGD_ID:1300514|REF_RGD_ID:14995942|REF_RGD_ID:15014788
8761819	Tmem67	transmembrane protein 67	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606753	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:10567047|PMID:12368986|PMID:16199547|PMID:16415887|PMID:16541367|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:19763152|PMID:20232449|PMID:20307669|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21633164|PMID:21866095|PMID:22406018|PMID:22700954|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24033266|PMID:24039893|PMID:25326635|PMID:25412400|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26075130|PMID:26092869|PMID:26123494|PMID:26191240|PMID:26275793|PMID:26467025|PMID:26477546|PMID:26546361|PMID:26729329|PMID:27434533|PMID:27457812|PMID:27491411|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28719906|PMID:28771248|PMID:28973083|PMID:29096039|PMID:29127258|PMID:29146704|PMID:29261186|PMID:2929661|PMID:29568536|PMID:29891882|PMID:29947050|PMID:29974258|PMID:30029678|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31411728|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32058062|PMID:32404165|PMID:33532864|PMID:34006472|PMID:34032358|PMID:34645491|PMID:34675960|PMID:34964473|PMID:35229910|PMID:36221156|PMID:36617405|PMID:36703223|PMID:8862632|PMID:9375913|PMID:9536098
8761819	Tmem67	transmembrane protein 67	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606753	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:10567047|PMID:12368986|PMID:16199547|PMID:16415887|PMID:16541367|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:19763152|PMID:20232449|PMID:20307669|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21633164|PMID:21866095|PMID:22406018|PMID:22700954|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24033266|PMID:24039893|PMID:25326635|PMID:25412400|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26075130|PMID:26092869|PMID:26123494|PMID:26191240|PMID:26275793|PMID:26467025|PMID:26477546|PMID:26546361|PMID:26729329|PMID:27434533|PMID:27457812|PMID:27491411|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28719906|PMID:28771248|PMID:28973083|PMID:29096039|PMID:29127258|PMID:29146704|PMID:29261186|PMID:2929661|PMID:29568536|PMID:29891882|PMID:29947050|PMID:29974258|PMID:30029678|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31411728|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32058062|PMID:32404165|PMID:33532864|PMID:34006472|PMID:34032358|PMID:34645491|PMID:34675960|PMID:34964473|PMID:35229910|PMID:36090483|PMID:36221156|PMID:36617405|PMID:36703223|PMID:8862632|PMID:9375913|PMID:9536098
8761819	Tmem67	transmembrane protein 67	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606753	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:10567047|PMID:12368986|PMID:16199547|PMID:16415887|PMID:16541367|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:19763152|PMID:20232449|PMID:20307669|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21633164|PMID:21866095|PMID:22277662|PMID:22406018|PMID:22700954|PMID:22773737|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24033266|PMID:24039893|PMID:25326635|PMID:25326637|PMID:25412400|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26075130|PMID:26092869|PMID:26123494|PMID:26191240|PMID:26275793|PMID:26467025|PMID:26477546|PMID:26546361|PMID:26729329|PMID:27434533|PMID:27457812|PMID:27491411|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28719906|PMID:28771248|PMID:28973083|PMID:29096039|PMID:29127258|PMID:29146704|PMID:29261186|PMID:2929661|PMID:29568536|PMID:29891882|PMID:29947050|PMID:29974258|PMID:30029678|PMID:30266093|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31411728|PMID:31589614|PMID:31730820|PMID:31738409|PMID:32000717|PMID:32058062|PMID:32404165|PMID:32483926|PMID:32939031|PMID:33532864|PMID:34006472|PMID:34032358|PMID:34426522|PMID:34448047|PMID:34645491|PMID:34675960|PMID:34964473|PMID:35140360|PMID:35229910|PMID:35764379|PMID:36090483|PMID:36221156|PMID:36617405|PMID:36703223|PMID:36938085|PMID:8862632|PMID:9375913|PMID:9536098
8761819	Tmem67	transmembrane protein 67	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19540516|PMID:19574260|PMID:20232449|PMID:21633164|PMID:22277662|PMID:22700954|PMID:22773737|PMID:23034536|PMID:23351400|PMID:23559409|PMID:25326635|PMID:25412400|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26729329|PMID:28431631|PMID:28492532|PMID:28771248|PMID:29096039|PMID:29146704|PMID:29568536|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32483926|PMID:34426522|PMID:34448047|PMID:34645491|PMID:34675960|PMID:34964473|PMID:36938085|PMID:9536098
8761819	Tmem67	transmembrane protein 67	gene	DOID:0111001	Joubert syndrome 6		ISO	RGD:1606753	D	RGD:7240710	20180130	OMIM			
8761819	Tmem67	transmembrane protein 67	gene	DOID:0111001	Joubert syndrome 6		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 6 | ClinVar Annotator: match by term: Joubert syndrome 6	PMID:17160906|PMID:17576681|PMID:18327255|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21633164|PMID:22277662|PMID:22700954|PMID:22773737|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24039893|PMID:25326635|PMID:25741868|PMID:26035863|PMID:26092869|PMID:26191240|PMID:26467025|PMID:26729329|PMID:27434533|PMID:28125082|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28508964|PMID:28680603|PMID:28771248|PMID:29096039|PMID:29146704|PMID:29568536|PMID:29974258|PMID:30055837|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31319225|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32404165|PMID:34006472|PMID:34645491|PMID:34675960|PMID:34964473|PMID:36305856|PMID:36617405|PMID:36938085|PMID:39849212|PMID:9536098
8761819	Tmem67	transmembrane protein 67	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1606753	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:17160906|PMID:18327255|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28289063|PMID:28492532
8761819	Tmem67	transmembrane protein 67	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:18327255|PMID:22700954|PMID:25741868|PMID:28492532
8761819	Tmem67	transmembrane protein 67	gene	DOID:0111118	nephronophthisis 11		ISO	RGD:1606753	D	RGD:7240710	20180130	OMIM			
8761819	Tmem67	transmembrane protein 67	gene	DOID:0111118	nephronophthisis 11		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEPHRONOPHTHISIS 11 | ClinVar Annotator: match by term: Nephronophthisis 11	PMID:17160906|PMID:17576681|PMID:18327255|PMID:19058225|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21493627|PMID:22277662|PMID:22700954|PMID:22773737|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24039893|PMID:25741868|PMID:26035863|PMID:26092869|PMID:26191240|PMID:26467025|PMID:26729329|PMID:27491411|PMID:28431631|PMID:28492532|PMID:28680603|PMID:28719906|PMID:28771248|PMID:29096039|PMID:29146704|PMID:29974258|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31589614|PMID:31738409|PMID:32000717|PMID:33532864|PMID:34645491|PMID:34675960|PMID:34964473|PMID:35621037|PMID:36938085|PMID:37910852|PMID:38374194|PMID:9536098
8761819	Tmem67	transmembrane protein 67	gene	DOID:0111589	COACH syndrome		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COACH SYNDROME	PMID:17576681|PMID:19058225|PMID:21866095|PMID:25741868|PMID:26092869|PMID:27434533|PMID:28492532|PMID:9536098
8761819	Tmem67	transmembrane protein 67	gene	DOID:10534	stomach cancer		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:18327255|PMID:18414213|PMID:19574260|PMID:25741868|PMID:28492532|PMID:32483926|PMID:34426522|PMID:34448047
8761819	Tmem67	transmembrane protein 67	gene	DOID:1059	intellectual disability		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:19508969|PMID:22277662|PMID:22773737|PMID:25741868|PMID:28492532|PMID:36938085
8761819	Tmem67	transmembrane protein 67	gene	DOID:1074	kidney failure		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Kidney failure	PMID:22277662|PMID:22773737|PMID:25741868|PMID:28492532|PMID:36938085
8761819	Tmem67	transmembrane protein 67	gene	DOID:10762	portal hypertension		ISO	RGD:1606753	D	RGD:9068941	20230706	RGD		associated with Joubert syndrome 6;DNA:mutations:multiple (human)	PMID:29112083|REF_RGD_ID:329951005
8761819	Tmem67	transmembrane protein 67	gene	DOID:10907	microcephaly		ISO	RGD:1606753	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8761819	Tmem67	transmembrane protein 67	gene	DOID:10908	hydrocephalus		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:19508969|PMID:25741868
8761819	Tmem67	transmembrane protein 67	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8761819	Tmem67	transmembrane protein 67	gene	DOID:12215	oligohydramnios		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anhydramnios	PMID:25741868|PMID:35005812
8761819	Tmem67	transmembrane protein 67	gene	DOID:12270	coloboma		ISO	RGD:1606753	D	RGD:9068941	20260709	RGD		associated with Joubert syndrome 6;DNA:mutations:multiple (human)	PMID:29146704|REF_RGD_ID:329901759
8761819	Tmem67	transmembrane protein 67	gene	DOID:12712	nephronophthisis		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:18327255|PMID:19508969|PMID:22700954|PMID:25741868|PMID:28492532
8761819	Tmem67	transmembrane protein 67	gene	DOID:12849	autistic disorder		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532
8761819	Tmem67	transmembrane protein 67	gene	DOID:1324	lung cancer		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:16199547|PMID:19540516|PMID:20232449|PMID:23559409|PMID:28492532
8761819	Tmem67	transmembrane protein 67	gene	DOID:1573	communicating hydrocephalus		ISO	RGD:1586167	D	RGD:9068941	20200609	RGD			PMID:30705305|REF_RGD_ID:14995942
8761819	Tmem67	transmembrane protein 67	gene	DOID:1824	status epilepticus		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:20232449|PMID:21068128|PMID:23559409|PMID:25741868|PMID:28492532
8761819	Tmem67	transmembrane protein 67	gene	DOID:1826	epilepsy		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:20232449|PMID:21068128|PMID:21493627|PMID:23351400|PMID:23559409|PMID:24039893|PMID:25741868|PMID:26035863|PMID:26191240|PMID:28492532|PMID:32000717
8761819	Tmem67	transmembrane protein 67	gene	DOID:1909	melanoma		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:18327255|PMID:18414213|PMID:19574260|PMID:25741868|PMID:28492532|PMID:32483926|PMID:34426522|PMID:34448047
8761819	Tmem67	transmembrane protein 67	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1606753	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:16415887|PMID:20232449|PMID:23559409|PMID:25741868|PMID:27491411|PMID:28492532
8761819	Tmem67	transmembrane protein 67	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:18414213
8761819	Tmem67	transmembrane protein 67	gene	DOID:2975	cystic kidney disease		ISO	RGD:1316347	D	RGD:9068941	20260709	MouseDO			
8761819	Tmem67	transmembrane protein 67	gene	DOID:2975	cystic kidney disease		ISO	RGD:1606753	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:19508969
8761819	Tmem67	transmembrane protein 67	gene	DOID:3275	thymoma		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8761819	Tmem67	transmembrane protein 67	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8761819	Tmem67	transmembrane protein 67	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8761819	Tmem67	transmembrane protein 67	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8761819	Tmem67	transmembrane protein 67	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:16199547|PMID:19540516|PMID:20232449|PMID:23559409|PMID:28492532
8761819	Tmem67	transmembrane protein 67	gene	DOID:5041	esophageal cancer		ISO	RGD:1606753	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:16199547|PMID:19540516|PMID:20232449|PMID:23559409|PMID:28492532
8761819	Tmem67	transmembrane protein 67	gene	DOID:5082	liver cirrhosis		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cirrhosis of liver | ClinVar Annotator: match by term: cirrhosis	PMID:19574260|PMID:25741868|PMID:26092869|PMID:28492532|PMID:30455918|PMID:31019026|PMID:31589614|PMID:31738409|PMID:32000717|PMID:34645491|PMID:34675960|PMID:34964473
8761819	Tmem67	transmembrane protein 67	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8761819	Tmem67	transmembrane protein 67	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:18327255|PMID:18414213|PMID:19574260|PMID:25741868|PMID:28492532|PMID:32483926|PMID:34426522|PMID:34448047
8761819	Tmem67	transmembrane protein 67	gene	DOID:576	proteinuria		ISO	RGD:1586167	D	RGD:9068941	20201211	RGD		compared to RGD:14995941	PMID:11095650|REF_RGD_ID:1300514
8761819	Tmem67	transmembrane protein 67	gene	DOID:630	genetic disease		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19574260|PMID:25326635|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28771248|PMID:30455918|PMID:31019026|PMID:31589614|PMID:31738409|PMID:32000717|PMID:34645491|PMID:34675960|PMID:34964473
8761819	Tmem67	transmembrane protein 67	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:18327255|PMID:18414213|PMID:19574260|PMID:25741868|PMID:28492532|PMID:32483926|PMID:34426522|PMID:34448047
8761819	Tmem67	transmembrane protein 67	gene	DOID:783	end stage renal disease		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:22277662|PMID:22773737|PMID:25741868|PMID:28492532|PMID:36938085
8761819	Tmem67	transmembrane protein 67	gene	DOID:784	chronic kidney disease		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:20232449|PMID:21068128|PMID:23559409|PMID:25741868|PMID:28492532
8761819	Tmem67	transmembrane protein 67	gene	DOID:9000639	COACH Syndrome 1		ISO	RGD:1606753	D	RGD:7240710	20201202	OMIM			
8761819	Tmem67	transmembrane protein 67	gene	DOID:9000639	COACH Syndrome 1		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COACH syndrome 1	PMID:17160906|PMID:17576681|PMID:18327255|PMID:19058225|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21493627|PMID:22277662|PMID:22700954|PMID:22773737|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24039893|PMID:25741868|PMID:26035863|PMID:26092869|PMID:26191240|PMID:26467025|PMID:26729329|PMID:28431631|PMID:28492532|PMID:28680603|PMID:28771248|PMID:29096039|PMID:29146704|PMID:29974258|PMID:30476936|PMID:32000717|PMID:36617405|PMID:36938085|PMID:9536098
8761819	Tmem67	transmembrane protein 67	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:20232449|PMID:21068128|PMID:23559409|PMID:25741868|PMID:28492532
8761819	Tmem67	transmembrane protein 67	gene	DOID:9001575	IRIS COLOBOMA		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iris coloboma	PMID:25741868
8761819	Tmem67	transmembrane protein 67	gene	DOID:9002720	Splenomegaly		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:19574260|PMID:25741868|PMID:26092869|PMID:28492532|PMID:30455918|PMID:31019026|PMID:31589614|PMID:31738409|PMID:32000717|PMID:34645491|PMID:34675960|PMID:34964473
8761819	Tmem67	transmembrane protein 67	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:18327255|PMID:22700954|PMID:25741868|PMID:28492532
8761819	Tmem67	transmembrane protein 67	gene	DOID:9004538	Hearing Loss		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: hearing loss	PMID:20232449|PMID:21068128|PMID:23559409|PMID:25741868|PMID:28492532
8761819	Tmem67	transmembrane protein 67	gene	DOID:9004866	Ataxia		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:19508969|PMID:25741868
8761819	Tmem67	transmembrane protein 67	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
8761819	Tmem67	transmembrane protein 67	gene	DOID:9005786	RHYNS Syndrome		ISO	RGD:1606753	D	RGD:7240710	20221207	OMIM			
8761819	Tmem67	transmembrane protein 67	gene	DOID:9005786	RHYNS Syndrome		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, HYPOPITUITARISM, NEPHRONOPHTHISIS, AND MILD SKELETAL DYSPLASIA | ClinVar Annotator: match by term: RHYNS syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa syndrome	PMID:17160906|PMID:17576681|PMID:18327255|PMID:19058225|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21493627|PMID:22277662|PMID:22700954|PMID:22773737|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24039893|PMID:25741868|PMID:26035863|PMID:26092869|PMID:26191240|PMID:26729329|PMID:28431631|PMID:28492532|PMID:28680603|PMID:28771248|PMID:29096039|PMID:29146704|PMID:29974258|PMID:30476936|PMID:32000717|PMID:36938085|PMID:9536098
8761819	Tmem67	transmembrane protein 67	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:20232449|PMID:21068128|PMID:23559409|PMID:25741868|PMID:28492532
8761819	Tmem67	transmembrane protein 67	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:18327255|PMID:22700954|PMID:25741868|PMID:28492532
8761819	Tmem67	transmembrane protein 67	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:20232449|PMID:21068128|PMID:23559409|PMID:25741868|PMID:28492532
8761819	Tmem67	transmembrane protein 67	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:19574260|PMID:20232449|PMID:23351400|PMID:25741868|PMID:26092869|PMID:28492532|PMID:30029678|PMID:36090483
8761819	Tmem67	transmembrane protein 67	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:20232449|PMID:21068128|PMID:23559409|PMID:25741868|PMID:28492532
8761819	Tmem67	transmembrane protein 67	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:16199547|PMID:19540516|PMID:20232449|PMID:23559409|PMID:28492532
8761819	Tmem67	transmembrane protein 67	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8761819	Tmem67	transmembrane protein 67	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
8761819	Tmem67	transmembrane protein 67	gene	DOID:9970	obesity		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: obesity	PMID:18414213|PMID:25741868|PMID:28492532|PMID:29127258
8761853	Hscb	HscB mitochondrial iron-sulfur cluster cochaperone	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761853	Hscb	HscB mitochondrial iron-sulfur cluster cochaperone	gene	DOID:0061007	sideroblastic anemia 5		ISO	RGD:1602295	D	RGD:7240710	20210929	OMIM			
8761853	Hscb	HscB mitochondrial iron-sulfur cluster cochaperone	gene	DOID:0061007	sideroblastic anemia 5		ISO	RGD:1602295	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anemia, sideroblastic, 5	PMID:25741868
8761853	Hscb	HscB mitochondrial iron-sulfur cluster cochaperone	gene	DOID:10534	stomach cancer		ISO	RGD:1602295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8761853	Hscb	HscB mitochondrial iron-sulfur cluster cochaperone	gene	DOID:1115	sarcoma		ISO	RGD:1602295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8761853	Hscb	HscB mitochondrial iron-sulfur cluster cochaperone	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8761853	Hscb	HscB mitochondrial iron-sulfur cluster cochaperone	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8761853	Hscb	HscB mitochondrial iron-sulfur cluster cochaperone	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8761853	Hscb	HscB mitochondrial iron-sulfur cluster cochaperone	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1318944	D	RGD:9068941	20200609	RGD			PMID:22976834|REF_RGD_ID:10402865
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:0070000	3-methylglutaconic aciduria type 8		ISO	RGD:1318943	D	RGD:7240710	20190315	OMIM			
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:0070000	3-methylglutaconic aciduria type 8		ISO	RGD:1318943	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 | ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIII | ClinVar Annotator: match by term: HTRA2-related condition	PMID:15961413|PMID:18364387|PMID:18401856|PMID:25741868|PMID:28492532
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:0080855	Parkinsonism		ISO	RGD:1318943	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26558463
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:10283	prostate cancer		ISO	RGD:1318943	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:prostate (human)	PMID:17207090|REF_RGD_ID:5688749
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318943	D	RGD:9068941	20200609	RGD		protein:increased expression:gastric mucosa (human)	PMID:12887511|REF_RGD_ID:5688748
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1318943	D	RGD:9068941	20200609	RGD		protein:increased activity:frontal cortex (human)	PMID:21163861|REF_RGD_ID:5688722
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:11088	asphyxia neonatorum	treatment	ISO	RGD:1308906	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney:	PMID:20704803|REF_RGD_ID:10402931
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:1115	sarcoma		ISO	RGD:1318943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:11383	cryptorchidism		ISO	RGD:1308906	D	RGD:9068941	20200609	RGD			PMID:16563141|REF_RGD_ID:10402928
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:12858	Huntington's disease		ISO	RGD:1318944	D	RGD:9068941	20200609	RGD		protein:increased expression:striatal neuron (mouse)	PMID:18662332|REF_RGD_ID:5688723
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:1380	endometrial cancer		ISO	RGD:1318943	D	RGD:9068941	20200609	RGD		protein:decreased expression:endometrium (human)	PMID:19424634|REF_RGD_ID:5688747
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1318943	D	RGD:9068941	20200609	RGD		DNA:missense mutation, transversion:cds, intron:p.G26E, g.IVS5+29T>A (human)	PMID:21338583|REF_RGD_ID:5688714
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1318943	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.P143A (human)	PMID:21701785|REF_RGD_ID:5688395
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1318943	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.R404W (human)	PMID:18401856|REF_RGD_ID:5688393
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1318943	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.A141S, p.G399S (human)	PMID:15961413|REF_RGD_ID:5688381
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1318944	D	RGD:9068941	20200609	RGD			PMID:15509788|REF_RGD_ID:5688367
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1318944	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.S276C (mouse)	PMID:14534547|REF_RGD_ID:5688392
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:14330	Parkinson's disease	no_association	ISO	RGD:1318943	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.A141S, p.G399S (human)	PMID:18364387|REF_RGD_ID:5688394
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:1824	status epilepticus		ISO	RGD:1308906	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus CA1, neuron, cytoplasm (rat)	PMID:21132459|REF_RGD_ID:5688370
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:1909	melanoma		ISO	RGD:1318943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1318943	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15306124
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:1308906	D	RGD:9068941	20200609	RGD			PMID:19462455|REF_RGD_ID:10402932
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:231	motor neuron disease		ISO	RGD:1318944	D	RGD:9068941	20200609	RGD			PMID:22976834|REF_RGD_ID:10402865
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:231	motor neuron disease	treatment	ISO	RGD:1318943	D	RGD:9068941	20200609	RGD			PMID:22976834|REF_RGD_ID:10402865
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1318943	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:ovary (human)	PMID:18241672|REF_RGD_ID:5688746
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1308906	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, cytosol (rat)	PMID:16978742|REF_RGD_ID:2314385
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1318944	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, cytosol (mouse)	PMID:15306124|REF_RGD_ID:5688372
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:3652	Leigh disease		ISO	RGD:1318943	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318943	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:630	genetic disease		ISO	RGD:1318943	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:9002644	Premature Aging		ISO	RGD:1318944	D	RGD:9068941	20200609	RGD			PMID:22976834|REF_RGD_ID:10402865
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:9002720	Splenomegaly		ISO	RGD:1318944	D	RGD:9068941	20200609	RGD			PMID:22976834|REF_RGD_ID:10402865
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:9002859	Parkinson's Disease 13		ISO	RGD:1318943	D	RGD:7240710	20180130	OMIM			
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:9002859	Parkinson's Disease 13		ISO	RGD:1318943	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HTRA2-Related Disorders | ClinVar Annotator: match by term: HTRA2-related condition | ClinVar Annotator: match by term: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to	PMID:15961413|PMID:18364387|PMID:18401856|PMID:21338583|PMID:25531304|PMID:25741868|PMID:27208207|PMID:27696117|PMID:28492532
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:1308906	D	RGD:9068941	20200609	RGD			PMID:23557966|REF_RGD_ID:10402934
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:9007456	Female Infertility		ISO	RGD:1318944	D	RGD:9068941	20200609	RGD			PMID:22976834|REF_RGD_ID:10402865
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1318944	D	RGD:9068941	20200609	RGD		protein:increased expression:myocardium, cytosol (mouse)	PMID:15611365|REF_RGD_ID:5688376
8761863	Htra2	HtrA serine peptidase 2	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1318943	D	RGD:9068941	20220609	RGD		protein:decreased expression:colorectal mucosa (human)	PMID:32486357|REF_RGD_ID:152977762
8761897	Stpg1	sperm tail PG-rich repeat containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761897	Stpg1	sperm tail PG-rich repeat containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8761897	Stpg1	sperm tail PG-rich repeat containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8761897	Stpg1	sperm tail PG-rich repeat containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8761916	Rmp64	ribonuclease MRP subunit p64	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761916	Rmp64	ribonuclease MRP subunit p64	gene	DOID:0080963	anauxetic dysplasia 3		ISO	RGD:1352471	D	RGD:7240710	20200520	OMIM			
8761916	Rmp64	ribonuclease MRP subunit p64	gene	DOID:0080963	anauxetic dysplasia 3		ISO	RGD:1352471	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ANAUXETIC DYSPLASIA 3 | ClinVar Annotator: match by term: NEPRO-related condition	PMID:25741868
8761916	Rmp64	ribonuclease MRP subunit p64	gene	DOID:10907	microcephaly		ISO	RGD:1352471	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8761916	Rmp64	ribonuclease MRP subunit p64	gene	DOID:1324	lung cancer		ISO	RGD:1352471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8761916	Rmp64	ribonuclease MRP subunit p64	gene	DOID:1909	melanoma		ISO	RGD:1352471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8761916	Rmp64	ribonuclease MRP subunit p64	gene	DOID:3275	thymoma		ISO	RGD:1352471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8761916	Rmp64	ribonuclease MRP subunit p64	gene	DOID:4362	cervical cancer		ISO	RGD:1352471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8761916	Rmp64	ribonuclease MRP subunit p64	gene	DOID:5041	esophageal cancer		ISO	RGD:1352471	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8761916	Rmp64	ribonuclease MRP subunit p64	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761916	Rmp64	ribonuclease MRP subunit p64	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8761940	Gabpb1	GA binding protein transcription factor subunit beta 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761940	Gabpb1	GA binding protein transcription factor subunit beta 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8761940	Gabpb1	GA binding protein transcription factor subunit beta 1	gene	DOID:1909	melanoma		ISO	RGD:1321019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8761940	Gabpb1	GA binding protein transcription factor subunit beta 1	gene	DOID:3275	thymoma		ISO	RGD:1321019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8761940	Gabpb1	GA binding protein transcription factor subunit beta 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8761940	Gabpb1	GA binding protein transcription factor subunit beta 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8761940	Gabpb1	GA binding protein transcription factor subunit beta 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321019	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8761940	Gabpb1	GA binding protein transcription factor subunit beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761940	Gabpb1	GA binding protein transcription factor subunit beta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8761940	Gabpb1	GA binding protein transcription factor subunit beta 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737089	D	RGD:9068941	20240425	MouseDO			
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1342971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:1909	melanoma		ISO	RGD:1342971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:305	carcinoma		ISO	RGD:1342971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1342971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1342971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1342971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18988084
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1342971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:9005587	Starvation		ISO	RGD:2015	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:15811777|REF_RGD_ID:1625742
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1342971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9452481
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1342971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1342971	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:subcutaneous adipose tissue	PMID:16788709|REF_RGD_ID:1625735
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:9970	obesity		ISO	RGD:1342971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:9970	obesity		ISO	RGD:1342971	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:subcutaneous adipose tissue	PMID:16788709|REF_RGD_ID:1625735
8761964	Acsl1	acyl-CoA synthetase long chain family member 1	gene	DOID:9970	obesity		ISO	RGD:2015	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:adipose tissue, liver	PMID:1543733|REF_RGD_ID:1625737
8762010	Pcgf6	polycomb group ring finger 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8762010	Pcgf6	polycomb group ring finger 6	gene	DOID:10534	stomach cancer		ISO	RGD:1353848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8762010	Pcgf6	polycomb group ring finger 6	gene	DOID:1115	sarcoma		ISO	RGD:1353848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8762010	Pcgf6	polycomb group ring finger 6	gene	DOID:1324	lung cancer		ISO	RGD:1353848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8762010	Pcgf6	polycomb group ring finger 6	gene	DOID:1909	melanoma		ISO	RGD:1353848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8762010	Pcgf6	polycomb group ring finger 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8762010	Pcgf6	polycomb group ring finger 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762010	Pcgf6	polycomb group ring finger 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8762031	Dtx1	deltex E3 ubiquitin ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8762031	Dtx1	deltex E3 ubiquitin ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8762031	Dtx1	deltex E3 ubiquitin ligase 1	gene	DOID:1324	lung cancer		ISO	RGD:1353899	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8762031	Dtx1	deltex E3 ubiquitin ligase 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1353899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25171927|PMID:28183850|PMID:35101336
8762031	Dtx1	deltex E3 ubiquitin ligase 1	gene	DOID:1909	melanoma		ISO	RGD:1353899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8762031	Dtx1	deltex E3 ubiquitin ligase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1353899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8762031	Dtx1	deltex E3 ubiquitin ligase 1	gene	DOID:3181	oligodendroglioma		ISO	RGD:1353899	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21127729
8762031	Dtx1	deltex E3 ubiquitin ligase 1	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1353899	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208345
8762031	Dtx1	deltex E3 ubiquitin ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762031	Dtx1	deltex E3 ubiquitin ligase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353899	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8762031	Dtx1	deltex E3 ubiquitin ligase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8762031	Dtx1	deltex E3 ubiquitin ligase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8762053	Rer1	retention in endoplasmic reticulum sorting receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8762053	Rer1	retention in endoplasmic reticulum sorting receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8762053	Rer1	retention in endoplasmic reticulum sorting receptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8762053	Rer1	retention in endoplasmic reticulum sorting receptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1351700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8762053	Rer1	retention in endoplasmic reticulum sorting receptor 1	gene	DOID:3275	thymoma		ISO	RGD:1351700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8762053	Rer1	retention in endoplasmic reticulum sorting receptor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8762053	Rer1	retention in endoplasmic reticulum sorting receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762053	Rer1	retention in endoplasmic reticulum sorting receptor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8762053	Rer1	retention in endoplasmic reticulum sorting receptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8762053	Rer1	retention in endoplasmic reticulum sorting receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8762067	Trmt44	tRNA methyltransferase 44 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8762067	Trmt44	tRNA methyltransferase 44 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1602178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8762067	Trmt44	tRNA methyltransferase 44 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1602178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8762067	Trmt44	tRNA methyltransferase 44 homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8762067	Trmt44	tRNA methyltransferase 44 homolog	gene	DOID:3275	thymoma		ISO	RGD:1602178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8762067	Trmt44	tRNA methyltransferase 44 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1602178	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8762067	Trmt44	tRNA methyltransferase 44 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762067	Trmt44	tRNA methyltransferase 44 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8762067	Trmt44	tRNA methyltransferase 44 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8762067	Trmt44	tRNA methyltransferase 44 homolog	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8762067	Trmt44	tRNA methyltransferase 44 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8762067	Trmt44	tRNA methyltransferase 44 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8762091	Efcab3	EF-hand calcium binding domain 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1603895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8762091	Efcab3	EF-hand calcium binding domain 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8762158	Pafah2	platelet activating factor acetylhydrolase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8762158	Pafah2	platelet activating factor acetylhydrolase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8762158	Pafah2	platelet activating factor acetylhydrolase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8762158	Pafah2	platelet activating factor acetylhydrolase 2	gene	DOID:1115	sarcoma		ISO	RGD:1349698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8762158	Pafah2	platelet activating factor acetylhydrolase 2	gene	DOID:1909	melanoma		ISO	RGD:1349698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8762158	Pafah2	platelet activating factor acetylhydrolase 2	gene	DOID:3275	thymoma		ISO	RGD:1349698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8762158	Pafah2	platelet activating factor acetylhydrolase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8762158	Pafah2	platelet activating factor acetylhydrolase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1349698	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8762158	Pafah2	platelet activating factor acetylhydrolase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762158	Pafah2	platelet activating factor acetylhydrolase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8762158	Pafah2	platelet activating factor acetylhydrolase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8762158	Pafah2	platelet activating factor acetylhydrolase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8762173	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:0050902	medulloblastoma		ISO	RGD:1320394	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
8762173	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8762173	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:0111053	platelet-type bleeding disorder 15		ISO	RGD:1320394	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia	PMID:23809206|PMID:26316623
8762173	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:0111723	Jacobsen Syndrome		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: 11q partial monosomy syndrome	PMID:25741868|PMID:31064749
8762173	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:1115	sarcoma		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8762173	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:14766	renal agenesis		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal agenesis	PMID:25741868
8762173	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:1588	thrombocytopenia		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:34355501
8762173	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:1909	melanoma		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8762173	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:3369	Ewing sarcoma		ISO	RGD:1320394	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11772151|PMID:16646077|PMID:26214589
8762173	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:418	systemic scleroderma		ISO	RGD:1320395	D	RGD:9068941	20220825	MouseDO		OMIM:181750	
8762173	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1320394	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8762173	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762173	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8762173	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:630	genetic disease		ISO	RGD:1320394	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8762173	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8762173	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320394	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8762173	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:9003946	Platelet-Type Bleeding Disorder 21		ISO	RGD:1320394	D	RGD:7240710	20190315	OMIM			
8762173	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:9003946	Platelet-Type Bleeding Disorder 21		ISO	RGD:1320394	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 21 | ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 21 | ClinVar Annotator: match by term: FLI1-related condition	PMID:24100448|PMID:25741868|PMID:28492532|PMID:32581362|PMID:34355501
8762173	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8762173	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:9008421	Epistaxis		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868|PMID:34355501
8762173	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8762194	Mab21l4	mab-21 like 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8762194	Mab21l4	mab-21 like 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1605342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8762194	Mab21l4	mab-21 like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762194	Mab21l4	mab-21 like 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:0051065	chronic pancreatitis	severity	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:22549003|REF_RGD_ID:10053701
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:0080855	Parkinsonism		ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:23251488|REF_RGD_ID:10053712
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:0081292	traumatic brain injury	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:24582457|REF_RGD_ID:13782254
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:10286	prostate carcinoma		ISO	RGD:735541	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:11781193|REF_RGD_ID:2292676
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735541	D	RGD:9068941	20200609	RGD		protein:increased expression:temporal cortex, membrane	PMID:9507158|REF_RGD_ID:10053642
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:733062	D	RGD:9068941	20200609	RGD			PMID:15339646|REF_RGD_ID:10053639
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:10763	hypertension	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:20065158|REF_RGD_ID:10053702
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:10808	gastric ulcer	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:24378970|REF_RGD_ID:10053695
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:11132	prostatic hypertrophy		ISO	RGD:735541	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:11781193|REF_RGD_ID:2292676
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:1240	leukemia		ISO	RGD:735541	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12970779
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:1380	endometrial cancer	disease progression	ISO	RGD:735541	D	RGD:9068941	20200609	RGD		protein:altered expression:endometrium (human)	PMID:24645842|REF_RGD_ID:13432164
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:1459	hypothyroidism		ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:22513421|REF_RGD_ID:10053713
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:735541	D	RGD:9068941	20200609	RGD			PMID:17004114|REF_RGD_ID:2292674
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:1686	glaucoma		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		protein:decreased serine phosphorylation:retina	PMID:16103353|REF_RGD_ID:2292690
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:1793	pancreatic cancer	treatment	ISO	RGD:735541	D	RGD:9068941	20200609	RGD		human cells in a mouse model	PMID:23523869|REF_RGD_ID:13451129
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:1875	impotence	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21235725|REF_RGD_ID:10053666
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:219	colon cancer	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:21214291|REF_RGD_ID:10053668
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:224	transient cerebral ischemia		ISO	RGD:735541	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12629175
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:2316	brain ischemia		ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:22843461|REF_RGD_ID:10053716
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:2316	brain ischemia		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		protein:decreased serine phosphorylation:brain	PMID:18078455|REF_RGD_ID:2292681
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:20037173|REF_RGD_ID:10053672
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:3070	high grade glioma		ISO	RGD:620103	D	RGD:9068941	20250109	RGD		protein:increased phosphorylation:brain (rat)	PMID:16944316|REF_RGD_ID:2292675
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:332	amyotrophic lateral sclerosis	disease_progression	ISO	RGD:733062	D	RGD:9068941	20200609	RGD			PMID:10582606|REF_RGD_ID:13506907
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:21891976|PMID:22200499|REF_RGD_ID:10053665|REF_RGD_ID:10053704
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:3669	intermittent claudication		ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:23658678|REF_RGD_ID:9586024
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:18198484|REF_RGD_ID:2292680
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:735541	D	RGD:9068941	20200609	RGD			PMID:24092988|REF_RGD_ID:13434906
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:735541	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung	PMID:21918885|REF_RGD_ID:13432584
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:4448	macular degeneration	severity	ISO	RGD:735541	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous humor	PMID:22773904|REF_RGD_ID:10053644
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:4450	renal cell carcinoma		ISO	RGD:735541	D	RGD:9068941	20200609	RGD			PMID:15851405|REF_RGD_ID:2292677
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:8398	osteoarthritis		ISO	RGD:735541	D	RGD:9068941	20200609	RGD			PMID:19217321|REF_RGD_ID:10053643
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9000998	Brain Injuries		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:cerebral cortex	PMID:15941375|REF_RGD_ID:2292694
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		protein:decreased serine phosphorylation:lung	PMID:15345971|REF_RGD_ID:2292699
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9001725	Retina Reperfusion Injury	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:23056591|REF_RGD_ID:10053711
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9002138	Spinal Cord Reperfusion Injury	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:23643992|REF_RGD_ID:10053660
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:22647552|REF_RGD_ID:10053673
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD		associated with Non-alcoholic Fatty Liver Disease	PMID:22847887|REF_RGD_ID:10053710
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733062	D	RGD:9068941	20200609	RGD			PMID:17607361|REF_RGD_ID:2292673
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735541	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17542986|PMID:19593445
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:21921241|REF_RGD_ID:10053646
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		protein:altered localization:brain, mitochondria	PMID:18347331|REF_RGD_ID:2292679
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:620103	D	RGD:9068941	20241010	RGD			PMID:31828147|REF_RGD_ID:35316072
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9004484	Sepsis		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		protein:increased localization:mitochondrion	PMID:24011917|REF_RGD_ID:10053647
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:22683079|REF_RGD_ID:10053707
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9004953	Diabetic Cystopathy	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:23129268|REF_RGD_ID:10053664
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:733062	D	RGD:9068941	20241010	RGD		protein:increased expression:brain cortex, hippocampus:	PMID:16496378|REF_RGD_ID:407574727
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9005233	Experimental Mammary Neoplasms	severity	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:20732338|REF_RGD_ID:10053708
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:23404339|REF_RGD_ID:10053670
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		protein:decreased serine phosphorylation:cornea	PMID:21330660|REF_RGD_ID:5131482
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		protein:increased expression, decreased phosphorylation, altered activity:testis	PMID:17870134|REF_RGD_ID:2292685
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9006945	Diabetic Cardiomyopathies	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21296063|REF_RGD_ID:10053697
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9007090	Experimental Seizures		ISO	RGD:620103	D	RGD:9068941	20241114	RGD		protein:decreased phosphorylation:hippocampus	PMID:15968425|REF_RGD_ID:2292693
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9007334	Small-For-Size Syndrome	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:22151301|REF_RGD_ID:10053671
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:25447754|REF_RGD_ID:10053709
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9007692	Insulin Resistance		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		protein:decreased phosphorylation, increased dimerization, increased glycosylation:heart	PMID:21385329|REF_RGD_ID:10053645
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9007730	Burns		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		protein:increased expression:neutrophil	PMID:15625305|REF_RGD_ID:2292697
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		protein:increased expression, decreased serine phosphorylation:heart	PMID:15339931|REF_RGD_ID:2292700
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:23364609|REF_RGD_ID:10053674
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:23032698|REF_RGD_ID:10053698
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9743	diabetic neuropathy	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:24288572|REF_RGD_ID:10053667
8762203	Bad	BCL2 associated agonist of cell death	gene	DOID:9970	obesity		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		protein:increased expression:heart left ventricle	PMID:18070754|REF_RGD_ID:2292682
8762248	Phf24	PHD finger protein 24	gene	DOID:1115	sarcoma		ISO	RGD:1342853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8762248	Phf24	PHD finger protein 24	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1342853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8762260	Cpa1	carboxypeptidase A1	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:733563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23955596
8762260	Cpa1	carboxypeptidase A1	gene	DOID:10534	stomach cancer		ISO	RGD:733563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8762260	Cpa1	carboxypeptidase A1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:733563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:23955596|PMID:25741868|PMID:28492532
8762260	Cpa1	carboxypeptidase A1	gene	DOID:13250	diarrhea		ISO	RGD:733563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:23955596|PMID:25741868|PMID:28492532
8762260	Cpa1	carboxypeptidase A1	gene	DOID:1485	cystic fibrosis		ISO	RGD:733563	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Mucoviscidosis	PMID:23955596|PMID:25741868|PMID:28492532
8762260	Cpa1	carboxypeptidase A1	gene	DOID:3275	thymoma		ISO	RGD:733563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8762260	Cpa1	carboxypeptidase A1	gene	DOID:4989	pancreatitis		ISO	RGD:733563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatitis	PMID:23955596|PMID:25741868|PMID:28492532
8762260	Cpa1	carboxypeptidase A1	gene	DOID:8577	ulcerative colitis		ISO	RGD:733563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ulcerative colitis	PMID:23955596|PMID:25741868|PMID:28492532
8762260	Cpa1	carboxypeptidase A1	gene	DOID:9001109	Anorexia		ISO	RGD:733563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anorexia	PMID:23955596|PMID:25741868|PMID:28492532
8762260	Cpa1	carboxypeptidase A1	gene	DOID:9001191	Cadmium Poisoning		ISO	RGD:2388	D	RGD:9068941	20211224	RGD		protein:increased activity:small intestine (rat)	PMID:15865404|REF_RGD_ID:1578424
8762260	Cpa1	carboxypeptidase A1	gene	DOID:9007073	Cough		ISO	RGD:733563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cough	PMID:23955596|PMID:25741868|PMID:28492532
8762260	Cpa1	carboxypeptidase A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	PMID:25741868|PMID:28492532
8762260	Cpa1	carboxypeptidase A1	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:733563	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:16199547|PMID:17576681|PMID:23955596|PMID:24522117|PMID:25741868|PMID:26658419|PMID:27449771|PMID:28166811|PMID:28492532|PMID:28497564|PMID:28861620|PMID:29669919|PMID:30045879|PMID:30862690|PMID:30883245|PMID:35171259|PMID:36555104|PMID:9536098
8762260	Cpa1	carboxypeptidase A1	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:733563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:17576681|PMID:23955596|PMID:25741868|PMID:28492532|PMID:28497564|PMID:29669919|PMID:30045879|PMID:30862690|PMID:35171259|PMID:9536098
8762260	Cpa1	carboxypeptidase A1	gene	DOID:9563	bronchiectasis		ISO	RGD:733563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiectasis	PMID:23955596|PMID:25741868|PMID:28492532
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:732028	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:732028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinson disease 18, autosomal dominant, susceptibility to | ClinVar Annotator: match by term: Parkinson disease, late-onset	PMID:15079038|PMID:19429166|PMID:24126627|PMID:25741868|PMID:31922365
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:732028	D	RGD:8554872	20240625	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:3202	D	RGD:9068941	20210326	RGD			PMID:31408200|REF_RGD_ID:124713575
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:12849	autistic disorder		ISO	RGD:732028	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:732028	D	RGD:9068941	20260604	RGD		DNA:insertion:intron:g.7048_7049insG (human)	PMID:11914402|REF_RGD_ID:1358553
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:736400	D	RGD:9068941	20260604	MouseDO		OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251	
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:1826	epilepsy		ISO	RGD:732028	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epilepsy	
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:37	skin disease		ISO	RGD:732028	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:4362	cervical cancer		ISO	RGD:732028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:5419	schizophrenia		ISO	RGD:736400	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:630	genetic disease		ISO	RGD:732028	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:39334436
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:732028	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9001878	Disorders of Environmental Origin		ISO	RGD:3202	D	RGD:9068941	20250717	RGD		associated with BBOP exposure; mRNA, protein:decreased expression:adrenal cortex	PMID:35762508|REF_RGD_ID:617212669
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:732028	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:732028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9005106	Animal Toxoplasmosis		ISO	RGD:736400	D	RGD:9068941	20210326	RGD			PMID:25855987|REF_RGD_ID:11057198
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9006288	INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM		ISO	RGD:732028	D	RGD:7240710	20221214	OMIM			
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9006288	INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM		ISO	RGD:732028	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM | ClinVar Annotator: match by term: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | ClinVar Annotator: match by term: NR4A2-related condition	PMID:23066323|PMID:24614104|PMID:25326669|PMID:25741868|PMID:28492532|PMID:28544326|PMID:29758562|PMID:29770430|PMID:31428396|PMID:31922365|PMID:32366965|PMID:33585677|PMID:38440907|PMID:38791237
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9006359	Vitamin D Deficiency		ISO	RGD:3202	D	RGD:9068941	20210326	RGD			PMID:28365874|REF_RGD_ID:124713570
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:732028	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9008	psoriatic arthritis		ISO	RGD:732028	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19732956
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:732028	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16293616
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9008582	Developmental Disease		ISO	RGD:732028	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8762274	Nr4a2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8762306	Txn2	thioredoxin 2	gene	DOID:0080016	spina bifida		ISO	RGD:737462	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19165900
8762306	Txn2	thioredoxin 2	gene	DOID:0111501	combined oxidative phosphorylation deficiency 29		ISO	RGD:737462	D	RGD:7240710	20190315	OMIM			
8762306	Txn2	thioredoxin 2	gene	DOID:0111501	combined oxidative phosphorylation deficiency 29		ISO	RGD:737462	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 29 | ClinVar Annotator: match by term: TXN2-related condition	PMID:25741868|PMID:28492532
8762306	Txn2	thioredoxin 2	gene	DOID:1115	sarcoma		ISO	RGD:737462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8762306	Txn2	thioredoxin 2	gene	DOID:1324	lung cancer		ISO	RGD:737462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8762306	Txn2	thioredoxin 2	gene	DOID:3275	thymoma		ISO	RGD:737462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8762306	Txn2	thioredoxin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762306	Txn2	thioredoxin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8762306	Txn2	thioredoxin 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:71040	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:cerebral cortex	PMID:19128823|REF_RGD_ID:5685030
8762306	Txn2	thioredoxin 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:71040	D	RGD:9068941	20200609	RGD		mRNA:altered expression:myocardium (rat)	PMID:20571744|REF_RGD_ID:5133714
8762306	Txn2	thioredoxin 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:71040	D	RGD:9068941	20200609	RGD		mRNA:increased expression:glomerulus	PMID:15039483|REF_RGD_ID:2306161
8762306	Txn2	thioredoxin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
8762306	Txn2	thioredoxin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8762337	Zbtb24	zinc finger and BTB domain containing 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8762337	Zbtb24	zinc finger and BTB domain containing 24	gene	DOID:0090009	immunodeficiency-centromeric instability-facial anomalies syndrome 2		ISO	RGD:1315856	D	RGD:7240710	20180130	OMIM			
8762337	Zbtb24	zinc finger and BTB domain containing 24	gene	DOID:0090009	immunodeficiency-centromeric instability-facial anomalies syndrome 2		ISO	RGD:1315856	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 | ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | ClinVar Annotator: match by term: ZBTB24-related condition	PMID:16199547|PMID:17576681|PMID:21596365|PMID:21906047|PMID:22786748|PMID:23486536|PMID:23739126|PMID:24742017|PMID:25330735|PMID:25741868|PMID:28128455|PMID:28492532|PMID:28518168|PMID:29023266|PMID:29659838|PMID:29921932|PMID:30010917|PMID:30353301|PMID:30511102|PMID:30719684|PMID:30987377|PMID:31066130|PMID:31130284|PMID:32061411|PMID:32461654|PMID:33995370|PMID:9536098
8762337	Zbtb24	zinc finger and BTB domain containing 24	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8762337	Zbtb24	zinc finger and BTB domain containing 24	gene	DOID:1115	sarcoma		ISO	RGD:1315856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8762337	Zbtb24	zinc finger and BTB domain containing 24	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8762337	Zbtb24	zinc finger and BTB domain containing 24	gene	DOID:630	genetic disease		ISO	RGD:1315856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8762337	Zbtb24	zinc finger and BTB domain containing 24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8762354	Pgk1	phosphoglycerate kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8762354	Pgk1	phosphoglycerate kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8762354	Pgk1	phosphoglycerate kinase 1	gene	DOID:0061226	primary ciliary dyskinesia 55		ISO	RGD:1353723	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Male infertility due to obstructive azoospermia	
8762354	Pgk1	phosphoglycerate kinase 1	gene	DOID:0111933	phosphoglycerate kinase 1 deficiency		ISO	RGD:1353723	D	RGD:7240710	20180130	OMIM			
8762354	Pgk1	phosphoglycerate kinase 1	gene	DOID:0111933	phosphoglycerate kinase 1 deficiency		ISO	RGD:1353723	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | ClinVar Annotator: match by term: PGK1-Related Disorder | ClinVar Annotator: match by term: PGK1-related condition | ClinVar Annotator: match by term: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY | ClinVar Annotator: match by term: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY WITH LEVO-DOPA-RESPONSIVE PARKINSONISM	PMID:10809925|PMID:1547346|PMID:16567715|PMID:17576681|PMID:17661373|PMID:22348148|PMID:25741868|PMID:26975778|PMID:2715616|PMID:27848944|PMID:28492532|PMID:30111548|PMID:31175295|PMID:33177673|PMID:9512313|PMID:9536098
8762354	Pgk1	phosphoglycerate kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8762354	Pgk1	phosphoglycerate kinase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1353723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8762354	Pgk1	phosphoglycerate kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8762354	Pgk1	phosphoglycerate kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1353723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8762354	Pgk1	phosphoglycerate kinase 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1353723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868|PMID:28492532
8762354	Pgk1	phosphoglycerate kinase 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1353723	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329
8762354	Pgk1	phosphoglycerate kinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8762354	Pgk1	phosphoglycerate kinase 1	gene	DOID:5723	optic atrophy		ISO	RGD:1353723	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8762354	Pgk1	phosphoglycerate kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762354	Pgk1	phosphoglycerate kinase 1	gene	DOID:583	hemolytic anemia		ISO	RGD:1353723	D	RGD:9068941	20200609	RGD			PMID:16740138|REF_RGD_ID:1599123
8762354	Pgk1	phosphoglycerate kinase 1	gene	DOID:630	genetic disease		ISO	RGD:1353723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8762354	Pgk1	phosphoglycerate kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353723	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
8762354	Pgk1	phosphoglycerate kinase 1	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:1353723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhabdomyolysis	PMID:28492532
8762354	Pgk1	phosphoglycerate kinase 1	gene	DOID:9003760	Myalgia		ISO	RGD:1353723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:28492532
8762354	Pgk1	phosphoglycerate kinase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1353723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	PMID:25741868|PMID:28492532
8762354	Pgk1	phosphoglycerate kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8762354	Pgk1	phosphoglycerate kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8762406	Marveld2	MARVEL domain containing 2	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1345417	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness	
8762406	Marveld2	MARVEL domain containing 2	gene	DOID:0110506	autosomal recessive nonsyndromic deafness 49		ISO	RGD:1345417	D	RGD:7240710	20180130	OMIM			
8762406	Marveld2	MARVEL domain containing 2	gene	DOID:0110506	autosomal recessive nonsyndromic deafness 49		ISO	RGD:1345417	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 49 | ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49 | ClinVar Annotator: match by term: MARVELD2-related condition	PMID:16199547|PMID:17186462|PMID:18084694|PMID:22097895|PMID:23767834|PMID:23979167|PMID:24033266|PMID:25652404|PMID:25666562|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386|PMID:31850270|PMID:33597575
8762406	Marveld2	MARVEL domain containing 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1345417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
8762406	Marveld2	MARVEL domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8762406	Marveld2	MARVEL domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1345417	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8762406	Marveld2	MARVEL domain containing 2	gene	DOID:630	genetic disease		ISO	RGD:1345417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:28492532
8762406	Marveld2	MARVEL domain containing 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1345417	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:17186462|PMID:18084694|PMID:24033266|PMID:25741868|PMID:30311386
8762406	Marveld2	MARVEL domain containing 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1345417	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:16199547|PMID:17186462|PMID:22097895|PMID:25666562|PMID:25741868|PMID:28492532|PMID:30311386
8762406	Marveld2	MARVEL domain containing 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8762406	Marveld2	MARVEL domain containing 2	gene	DOID:9008681	Deafness		ISO	RGD:1345417	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness	
8762406	Marveld2	MARVEL domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8762406	Marveld2	MARVEL domain containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1345417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8762449	Clec4g	C-type lectin domain family 4 member G	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762449	Clec4g	C-type lectin domain family 4 member G	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354383	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:0050453	lissencephaly		ISO	RGD:1348797	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive	PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28166811|PMID:28492532|PMID:31664448
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:0050453	lissencephaly		ISO	RGD:1348797	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly, Recessive	PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28492532|PMID:31664448
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:0050453	lissencephaly		ISO	RGD:1348797	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Lissencephaly, Recessive | ClinVar Annotator: match by term: Macrogyria	PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28492532|PMID:28679693|PMID:30122538|PMID:31389005|PMID:31664448|PMID:31944481
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:0112235	lissencephaly 4		ISO	RGD:1348797	D	RGD:7240710	20180130	OMIM			
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:0112235	lissencephaly 4		ISO	RGD:1348797	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LISSENCEPHALY 4 WITH MICROCEPHALY | ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) | ClinVar Annotator: match by term: NDE1-related condition	PMID:18414213|PMID:21529751|PMID:24033266|PMID:25741868|PMID:26206584|PMID:26467025|PMID:28492532
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1348797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1348797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1348797	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16199547|PMID:16444274|PMID:17576681|PMID:18391202|PMID:20226094|PMID:21937134|PMID:22001912|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:28074631|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30122538|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32238909|PMID:32368696|PMID:9536098
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1348797	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16199547|PMID:16444274|PMID:17576681|PMID:18391202|PMID:20226094|PMID:21937134|PMID:22001912|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:28074631|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30122538|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32238909|PMID:32368696|PMID:32600061|PMID:9536098
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1348797	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16199547|PMID:16444274|PMID:17576681|PMID:18391202|PMID:20226094|PMID:21937134|PMID:22001912|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:28074631|PMID:28166811|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30122538|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32238909|PMID:32368696|PMID:32600061|PMID:35276540|PMID:35830949|PMID:9536098
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1348797	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16199547|PMID:16444274|PMID:17576681|PMID:18391202|PMID:20226094|PMID:21937134|PMID:22001912|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25407000|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:28074631|PMID:28166811|PMID:28469501|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29907982|PMID:30122538|PMID:31473177|PMID:31664448|PMID:31731876|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32238909|PMID:32368696|PMID:32600061|PMID:34498425|PMID:35276540|PMID:35393538|PMID:35830949|PMID:9536098
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1348797	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16199547|PMID:16444274|PMID:17576681|PMID:18391202|PMID:20226094|PMID:21937134|PMID:22001912|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25407000|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:28074631|PMID:28166811|PMID:28469501|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29907982|PMID:30122538|PMID:31473177|PMID:31664448|PMID:31731876|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32238909|PMID:32368696|PMID:32600061|PMID:34498425|PMID:35276540|PMID:35393538|PMID:35830949|PMID:36973604|PMID:9536098
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1348797	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:18391202|PMID:20226094|PMID:21937134|PMID:22001912|PMID:22968129|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25407000|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:28074631|PMID:28166811|PMID:28469501|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29907982|PMID:30122538|PMID:31389005|PMID:31473177|PMID:31538843|PMID:31664448|PMID:31731876|PMID:31785789|PMID:31916526|PMID:31944481|PMID:31977013|PMID:32238909|PMID:32368696|PMID:32600061|PMID:34498425|PMID:35276540|PMID:35393538|PMID:35830949|PMID:36763073|PMID:36973604|PMID:37625564|PMID:37937776|PMID:9536098
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1348797	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11727201|PMID:12673792|PMID:12955720|PMID:15689448|PMID:16199547|PMID:16385454|PMID:16444274|PMID:17576681|PMID:17666408|PMID:18391202|PMID:18484607|PMID:19881469|PMID:20226094|PMID:20301515|PMID:20301601|PMID:20301788|PMID:21937134|PMID:21943391|PMID:22001912|PMID:22968129|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25407000|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:28074631|PMID:28166811|PMID:28469501|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29907982|PMID:30122538|PMID:31389005|PMID:31473177|PMID:31538843|PMID:31664448|PMID:31731876|PMID:31785789|PMID:31916526|PMID:31944481|PMID:31977013|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33824467|PMID:34422331|PMID:34498425|PMID:35276540|PMID:35393538|PMID:35830949|PMID:36763073|PMID:36973604|PMID:37625564|PMID:37937776|PMID:9536098
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1348797	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:18391202|PMID:20226094|PMID:21937134|PMID:22001912|PMID:22968129|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25407000|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:28074631|PMID:28469501|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29907982|PMID:30122538|PMID:31389005|PMID:31473177|PMID:31538843|PMID:31664448|PMID:31731876|PMID:31785789|PMID:31916526|PMID:31944481|PMID:31977013|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33824467|PMID:34422331|PMID:34498425|PMID:35276540|PMID:35393538|PMID:35830949|PMID:36517271|PMID:36763073|PMID:36973604|PMID:37625564|PMID:37937776|PMID:9536098
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1348797	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:18391202|PMID:20226094|PMID:21937134|PMID:22001912|PMID:22968129|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25407000|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:28074631|PMID:28469501|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29907982|PMID:30122538|PMID:31389005|PMID:31473177|PMID:31538843|PMID:31664448|PMID:31731876|PMID:31785789|PMID:31916526|PMID:31944481|PMID:31977013|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33824467|PMID:34422331|PMID:34498425|PMID:35276540|PMID:35393538|PMID:35830949|PMID:36517271|PMID:36763073|PMID:36973604|PMID:37625564|PMID:37937776|PMID:38773466|PMID:9536098
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1348797	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:18391202|PMID:20226094|PMID:21937134|PMID:22001912|PMID:22968129|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25407000|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:28074631|PMID:28469501|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29907982|PMID:30122538|PMID:31389005|PMID:31473177|PMID:31538843|PMID:31664448|PMID:31731876|PMID:31785789|PMID:31916526|PMID:31944481|PMID:31977013|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33824467|PMID:34422331|PMID:34498425|PMID:35276540|PMID:35393538|PMID:35830949|PMID:36517271|PMID:36763073|PMID:36973604|PMID:37625564|PMID:37937776|PMID:38254962|PMID:38773466|PMID:9536098
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1348797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1348797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:630	genetic disease		ISO	RGD:1348797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:9000664	Familial Thoracic Aortic Aneurysm 4		ISO	RGD:126762485|RGD:12841115|RGD:13503604|RGD:13534557|RGD:14690892|RGD:151348681|RGD:34888775|RGD:34892062|RGD:34893493	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:9000664	Familial Thoracic Aortic Aneurysm 4		ISO	RGD:405722974	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS	PMID:25741868|PMID:28492532|PMID:34422331
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:9002767	Microhydranencephaly		ISO	RGD:1348797	D	RGD:7240710	20180130	OMIM			
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:9002767	Microhydranencephaly		ISO	RGD:1348797	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydranencephaly and microcephaly | ClinVar Annotator: match by term: MICROHYDRANENCEPHALY	PMID:25741868|PMID:28492532
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:9003653	Microcephalic Osteodysplastic Primordial Dwarfism, Type III		ISO	RGD:1348797	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE	PMID:25741868|PMID:28492532
8762462	Nde1	nudE neurodevelopment protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8762508	Glyctk	glycerate kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8762508	Glyctk	glycerate kinase	gene	DOID:0111626	D-glyceric aciduria		ISO	RGD:1604750	D	RGD:7240710	20180130	OMIM			
8762508	Glyctk	glycerate kinase	gene	DOID:0111626	D-glyceric aciduria		ISO	RGD:1604750	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: D-GLYCERIC ACIDURIA | ClinVar Annotator: match by term: D-Glyceric aciduria | ClinVar Annotator: match by term: Deficiency of glycerate kinase | ClinVar Annotator: match by term: GLYCTK-related condition	PMID:20949620|PMID:25741868|PMID:28492532|PMID:29695758
8762508	Glyctk	glycerate kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
8762508	Glyctk	glycerate kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8762508	Glyctk	glycerate kinase	gene	DOID:2394	ovarian cancer		ISO	RGD:1604750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8762508	Glyctk	glycerate kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8762508	Glyctk	glycerate kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762508	Glyctk	glycerate kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8762508	Glyctk	glycerate kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8762508	Glyctk	glycerate kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8762508	Glyctk	glycerate kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8762538	Mtm1	myotubularin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:10063835|PMID:16199547|PMID:27353517|PMID:28492532|PMID:9305655
8762538	Mtm1	myotubularin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8762538	Mtm1	myotubularin 1	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
8762538	Mtm1	myotubularin 1	gene	DOID:0111217	autosomal dominant centronuclear myopathy		ISO	RGD:1312103	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy	PMID:25741868|PMID:28492532
8762538	Mtm1	myotubularin 1	gene	DOID:0111225	centronuclear myopathy X-linked		ISO	RGD:1312103	D	RGD:7240710	20241120	OMIM			
8762538	Mtm1	myotubularin 1	gene	DOID:0111225	centronuclear myopathy X-linked		ISO	RGD:1312103	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MYOPATHY, CENTRONUCLEAR, X-LINKED | ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, X-LINKED | ClinVar Annotator: match by term: Myotubular myopathy, X-linked | ClinVar Annotator: match by term: Severe X-linked myotubular myopathy	PMID:10063835|PMID:10449925|PMID:10502779|PMID:10790201|PMID:10900271|PMID:11793470|PMID:12031625|PMID:12118066|PMID:12522554|PMID:12646134|PMID:12859411|PMID:15725586|PMID:15811014|PMID:15883335|PMID:16199547|PMID:17005396|PMID:17537630|PMID:17576681|PMID:17973976|PMID:18358876|PMID:18414213|PMID:19084976|PMID:19763152|PMID:20301605|PMID:20307669|PMID:20358311|PMID:20434914|PMID:20500434|PMID:21135508|PMID:22068590|PMID:22101172|PMID:22406018|PMID:22435031|PMID:22968135|PMID:22968136|PMID:23071445|PMID:23346162|PMID:23917616|PMID:25214167|PMID:25640679|PMID:25741868|PMID:25957634|PMID:26338224|PMID:26467025|PMID:26898940|PMID:27017278|PMID:27363342|PMID:28492532|PMID:28685322|PMID:29172004|PMID:29567349|PMID:30149909|PMID:30232666|PMID:30241883|PMID:30902907|PMID:31541013|PMID:33062893|PMID:33164942|PMID:34011573|PMID:34134972|PMID:34440373|PMID:34463354|PMID:37101954|PMID:37176116|PMID:38544359|PMID:8640223|PMID:9199578|PMID:9285787|PMID:9305655|PMID:9450905|PMID:9536098|PMID:9829274|PMID:9851444|PMID:9858861
8762538	Mtm1	myotubularin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8762538	Mtm1	myotubularin 1	gene	DOID:1115	sarcoma		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8762538	Mtm1	myotubularin 1	gene	DOID:1324	lung cancer		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8762538	Mtm1	myotubularin 1	gene	DOID:1459	hypothyroidism		ISO	RGD:1312103	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:10063835|PMID:18414213|PMID:25741868|PMID:28492532|PMID:30241883|PMID:9285787|PMID:9305655
8762538	Mtm1	myotubularin 1	gene	DOID:14717	centronuclear myopathy		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Centronuclear myopathy | ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY 1 | ClinVar Annotator: match by term: Myotubular myopathy	PMID:10063835|PMID:10502779|PMID:10790201|PMID:10900271|PMID:11793470|PMID:12118066|PMID:15725586|PMID:15811014|PMID:17005396|PMID:18414213|PMID:19084976|PMID:20358311|PMID:20434914|PMID:22068590|PMID:25741868|PMID:25957634|PMID:28492532|PMID:28685322|PMID:30149909|PMID:30241883|PMID:33164942|PMID:34011573|PMID:34440373|PMID:34463354|PMID:37101954|PMID:37176116|PMID:8640223|PMID:9285787|PMID:9305655|PMID:9450905|PMID:9829274
8762538	Mtm1	myotubularin 1	gene	DOID:1909	melanoma		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8762538	Mtm1	myotubularin 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8762538	Mtm1	myotubularin 1	gene	DOID:318	progressive muscular atrophy		ISO	RGD:1312103	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive spinal muscular atrophy	PMID:10063835|PMID:18414213|PMID:25741868|PMID:28492532|PMID:30241883|PMID:9285787|PMID:9305655
8762538	Mtm1	myotubularin 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:12335532	D	RGD:9068941	20260312	OMIA		Myotubular myopathy 1	PMID:18481550|PMID:20682747|PMID:22987702|PMID:25664165|PMID:26086764|PMID:26605308|PMID:26823526|PMID:28237839|PMID:28370029|PMID:28470668|PMID:32417001|PMID:33076971|PMID:41196692
8762538	Mtm1	myotubularin 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1312103	D	RGD:9068941	20260312	CTD		CTD Direct Evidence: marker/mechanism	PMID:17376685
8762538	Mtm1	myotubularin 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1312103	D	RGD:9068941	20260312	RGD		myotubular myopathy, OMIM:310400, DNA:point mutation:exon:p.N207S (human)	PMID:8640223|REF_RGD_ID:1600519
8762538	Mtm1	myotubularin 1	gene	DOID:423	myopathy		ISO	RGD:1312103	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:32581362
8762538	Mtm1	myotubularin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312103	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8762538	Mtm1	myotubularin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762538	Mtm1	myotubularin 1	gene	DOID:630	genetic disease		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8762538	Mtm1	myotubularin 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	PMID:10063835|PMID:10502779|PMID:10714588|PMID:10900271|PMID:11793470|PMID:12031625|PMID:12118066|PMID:17537630|PMID:18414213|PMID:2352255|PMID:25741868|PMID:28492532|PMID:28685322|PMID:8640223
8762538	Mtm1	myotubularin 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312103	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
8762538	Mtm1	myotubularin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532|PMID:37101954
8762538	Mtm1	myotubularin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8762538	Mtm1	myotubularin 1	gene	DOID:936	brain disease		ISO	RGD:1312103	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:10063835|PMID:18414213|PMID:25741868|PMID:28492532|PMID:30241883|PMID:9285787|PMID:9305655
8762565	Ccdc137	coiled-coil domain containing 137	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1625086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8762565	Ccdc137	coiled-coil domain containing 137	gene	DOID:1115	sarcoma		ISO	RGD:1625086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8762565	Ccdc137	coiled-coil domain containing 137	gene	DOID:3070	high grade glioma		ISO	RGD:1625086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8762565	Ccdc137	coiled-coil domain containing 137	gene	DOID:4362	cervical cancer		ISO	RGD:1625086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8762565	Ccdc137	coiled-coil domain containing 137	gene	DOID:5041	esophageal cancer		ISO	RGD:1625086	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8762565	Ccdc137	coiled-coil domain containing 137	gene	DOID:5419	schizophrenia		ISO	RGD:1625086	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743468
8762565	Ccdc137	coiled-coil domain containing 137	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1625086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762565	Ccdc137	coiled-coil domain containing 137	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1625086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8762565	Ccdc137	coiled-coil domain containing 137	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1625086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8762565	Ccdc137	coiled-coil domain containing 137	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1625086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8762574	Dmxl1	Dmx like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8762574	Dmxl1	Dmx like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8762574	Dmxl1	Dmx like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8762574	Dmxl1	Dmx like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8762574	Dmxl1	Dmx like 1	gene	DOID:1324	lung cancer		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8762574	Dmxl1	Dmx like 1	gene	DOID:1909	melanoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8762574	Dmxl1	Dmx like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8762574	Dmxl1	Dmx like 1	gene	DOID:3070	high grade glioma		ISO	RGD:1317027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16865689
8762574	Dmxl1	Dmx like 1	gene	DOID:3275	thymoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8762574	Dmxl1	Dmx like 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8762574	Dmxl1	Dmx like 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8762574	Dmxl1	Dmx like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8762574	Dmxl1	Dmx like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8762574	Dmxl1	Dmx like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8762574	Dmxl1	Dmx like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317027	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8762574	Dmxl1	Dmx like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762574	Dmxl1	Dmx like 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8762574	Dmxl1	Dmx like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8762574	Dmxl1	Dmx like 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8762574	Dmxl1	Dmx like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8762574	Dmxl1	Dmx like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8762574	Dmxl1	Dmx like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8762574	Dmxl1	Dmx like 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8762623	Mcf2	MCF.2 cell line derived transforming sequence	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8762623	Mcf2	MCF.2 cell line derived transforming sequence	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8762623	Mcf2	MCF.2 cell line derived transforming sequence	gene	DOID:10534	stomach cancer		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8762623	Mcf2	MCF.2 cell line derived transforming sequence	gene	DOID:1909	melanoma		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8762623	Mcf2	MCF.2 cell line derived transforming sequence	gene	DOID:3275	thymoma		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8762623	Mcf2	MCF.2 cell line derived transforming sequence	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762623	Mcf2	MCF.2 cell line derived transforming sequence	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1345996	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8762623	Mcf2	MCF.2 cell line derived transforming sequence	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8762623	Mcf2	MCF.2 cell line derived transforming sequence	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8762685	Reep6	receptor accessory protein 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319884	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8762685	Reep6	receptor accessory protein 6	gene	DOID:0080350	retinitis pigmentosa 77		ISO	RGD:1319884	D	RGD:7240710	20190315	OMIM			
8762685	Reep6	receptor accessory protein 6	gene	DOID:0080350	retinitis pigmentosa 77		ISO	RGD:1319884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: REEP6-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 77 | ClinVar Annotator: match by term: Retinitis pigmentosa 77	PMID:25741868|PMID:27889058|PMID:28369466|PMID:28475715|PMID:28492532|PMID:29120066|PMID:33247286|PMID:36284460|PMID:36819107
8762685	Reep6	receptor accessory protein 6	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319884	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa	PMID:25741868|PMID:27889058|PMID:28492532|PMID:29120066
8762685	Reep6	receptor accessory protein 6	gene	DOID:4362	cervical cancer		ISO	RGD:1319884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8762685	Reep6	receptor accessory protein 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8762685	Reep6	receptor accessory protein 6	gene	DOID:5723	optic atrophy		ISO	RGD:1319884	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8762685	Reep6	receptor accessory protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762685	Reep6	receptor accessory protein 6	gene	DOID:630	genetic disease		ISO	RGD:1319884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8762685	Reep6	receptor accessory protein 6	gene	DOID:8501	fundus dystrophy		ISO	RGD:1319884	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
8762685	Reep6	receptor accessory protein 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8762701	Ptch1	patched 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:26467025|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:0050581	brachydactyly		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:0050587	trichotillomania		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trichotillomania	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:0050591	tooth agenesis		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tooth agenesis	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:0050840	cervical dystonia		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:8840969
8762701	Ptch1	patched 1	gene	DOID:0050847	sleep apnea		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:0050860	colorectal adenoma		ISO	RGD:1319156	D	RGD:9068941	20211126	RGD			PMID:24612059|REF_RGD_ID:150523840
8762701	Ptch1	patched 1	gene	DOID:0050902	medulloblastoma		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma	PMID:16301862|PMID:16419085|PMID:22952776|PMID:25741868|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8762701	Ptch1	patched 1	gene	DOID:0060058	lymphoma		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8762701	Ptch1	patched 1	gene	DOID:0060249	scoliosis		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:0060320	inguinal hernia		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:16301862|PMID:16419085|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:0060648	anterior segment dysgenesis		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anterior segment dysgenesis	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:0060673	Peters anomaly		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peters anomaly	PMID:1347096|PMID:25741868|PMID:26893459|PMID:27153395|PMID:28492532|PMID:30487145|PMID:34426522|PMID:35170016|PMID:37350193|PMID:38096238
8762701	Ptch1	patched 1	gene	DOID:0070365	nevoid basal cell carcinoma syndrome 1		ISO	RGD:1319156	D	RGD:7240710	20230505	OMIM			
8762701	Ptch1	patched 1	gene	DOID:0070365	nevoid basal cell carcinoma syndrome 1		ISO	RGD:1319156	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BASAL CELL NEVUS SYNDROME 1 | ClinVar Annotator: match by term: Basal cell nevus syndrome 1	PMID:11457640|PMID:11941477|PMID:15712338|PMID:16199547|PMID:16301862|PMID:16419085|PMID:16909134|PMID:17001668|PMID:18502968|PMID:18830227|PMID:19346217|PMID:19557015|PMID:20301330|PMID:21188540|PMID:22703879|PMID:23313819|PMID:24033266|PMID:24204797|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26893459|PMID:27153395|PMID:28492532|PMID:28495808|PMID:29575684|PMID:30411536|PMID:31506931|PMID:31837199|PMID:32409749|PMID:32483240|PMID:32906206|PMID:34301788|PMID:35884425|PMID:39148954|PMID:8658145|PMID:8681379|PMID:9654212
8762701	Ptch1	patched 1	gene	DOID:0070681	congenital hydrocephalus		ISO	RGD:1319156	D	RGD:8554872	20260505	ClinVar		ClinVar Annotator: match by term: Congenital hydrocephalus	PMID:28492532|PMID:29983323
8762701	Ptch1	patched 1	gene	DOID:0080016	spina bifida		ISO	RGD:1319156	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:26446020|REF_RGD_ID:12801432
8762701	Ptch1	patched 1	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:0080600	COVID-19		ISO	RGD:1319156	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8762701	Ptch1	patched 1	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:21163964|PMID:22722829|PMID:22820256|PMID:22832583|PMID:27993330|PMID:28726821
8762701	Ptch1	patched 1	gene	DOID:0080703	medulloblastoma SHH activated		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated	PMID:21163964|PMID:22722829|PMID:22820256|PMID:22832583|PMID:27993330|PMID:28726821|PMID:29753700|PMID:32296180
8762701	Ptch1	patched 1	gene	DOID:0080705	medulloblastoma SHH activated and TP53 wild-type		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated and TP53 wild-type	PMID:21163964|PMID:22722829|PMID:22820256|PMID:22832583|PMID:24651015|PMID:27993330|PMID:28726821|PMID:33741928
8762701	Ptch1	patched 1	gene	DOID:0110876	holoprosencephaly 7		ISO	RGD:1319156	D	RGD:7240710	20180130	OMIM			
8762701	Ptch1	patched 1	gene	DOID:0110876	holoprosencephaly 7		ISO	RGD:1319156	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HOLOPROSENCEPHALY 7 | ClinVar Annotator: match by term: Holoprosencephaly 7	PMID:11941477|PMID:15712338|PMID:16199547|PMID:16301862|PMID:16419085|PMID:18502968|PMID:19346217|PMID:19557015|PMID:21188540|PMID:22703879|PMID:23313819|PMID:24033266|PMID:24728327|PMID:24942795|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26893459|PMID:28492532|PMID:28495808|PMID:29575684|PMID:30997576|PMID:31506931|PMID:32409749|PMID:32483240|PMID:32906206|PMID:34301788|PMID:35884425|PMID:39148954|PMID:8658145
8762701	Ptch1	patched 1	gene	DOID:0111359	large congenital melanocytic nevus		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus spilus	PMID:25741868|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:1019	osteomyelitis		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteomyelitis	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:10460	nasopharyngitis		ISO	RGD:1319156	D	RGD:9068941	20211126	RGD		mRNA:decreased expression:epithelium of nasopharynx	PMID:23001130|REF_RGD_ID:150523839
8762701	Ptch1	patched 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319156	D	RGD:9068941	20211126	RGD		DNA:hypermethylation:promoter	PMID:19673023|REF_RGD_ID:150523838
8762701	Ptch1	patched 1	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1319156	D	RGD:9068941	20211126	RGD			PMID:22456124|PMID:23371028|REF_RGD_ID:150523836|REF_RGD_ID:150523844
8762701	Ptch1	patched 1	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1319156	D	RGD:9068941	20211126	RGD			PMID:23440386|REF_RGD_ID:150523843
8762701	Ptch1	patched 1	gene	DOID:1059	intellectual disability		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:10629	microphthalmia		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral microphthalmos	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:10907	microcephaly		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868
8762701	Ptch1	patched 1	gene	DOID:1115	sarcoma		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8762701	Ptch1	patched 1	gene	DOID:11367	congenital aphakia		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital primary aphakia	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:12642	hiatus hernia		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hiatus hernia	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:1324	lung cancer		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532|PMID:28518168|PMID:32461654
8762701	Ptch1	patched 1	gene	DOID:13994	cleidocranial dysplasia		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Large fontanelles	
8762701	Ptch1	patched 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:16301862|PMID:16419085|PMID:24840883|PMID:25741868|PMID:28492532|PMID:35101336
8762701	Ptch1	patched 1	gene	DOID:14686	Axenfeld-Rieger syndrome		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rieger anomaly	PMID:26893459|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:1596	depressive disorder		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:1686	glaucoma		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:1319156	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19077462
8762701	Ptch1	patched 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:1319156	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:19396459|REF_RGD_ID:2324910
8762701	Ptch1	patched 1	gene	DOID:1826	epilepsy		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:19557015|PMID:25741868|PMID:26893459|PMID:8658145
8762701	Ptch1	patched 1	gene	DOID:1891	optic nerve disease		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:1909	melanoma		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:2120	focal dermal hypoplasia		ISO	RGD:1319156	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GORLIN-GOLTZ SYNDROME	PMID:11941477|PMID:16199547|PMID:16301862|PMID:16419085|PMID:18502968|PMID:18830227|PMID:19346217|PMID:23313819|PMID:24033266|PMID:24814739|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532|PMID:28495808|PMID:29575684|PMID:31506931|PMID:32409749|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Head-banging	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:2355	anemia		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:16301862|PMID:16419085|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:2512	nevoid basal cell carcinoma syndrome		ISO	RGD:1319156	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: Gorlin-Goltz Syndrome	PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11231326|PMID:11387302|PMID:11457640|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12900905|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15565302|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17328283|PMID:17349603|PMID:17576681|PMID:17703323|PMID:17924555|PMID:18302678|PMID:18373848|PMID:18477452|PMID:1850296|PMID:18502968|PMID:18510667|PMID:18830227|PMID:19002359|PMID:19346217|PMID:19362041|PMID:19521425|PMID:19557015|PMID:20068110|PMID:20301330|PMID:20485063|PMID:20690502|PMID:21188540|PMID:21368767|PMID:21490102|PMID:21514272|PMID:21567912|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22382802|PMID:22434048|PMID:22572734|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22829011|PMID:22844361|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24369017|PMID:24529220|PMID:24651015|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24816767|PMID:24942795|PMID:25117323|PMID:25131638|PMID:25260786|PMID:25326635|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25727044|PMID:25741868|PMID:25938944|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:26997948|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27793025|PMID:27930734|PMID:27993330|PMID:28342698|PMID:28492532|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29277811|PMID:29381605|PMID:29446198|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29983323|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30256826|PMID:30262796|PMID:30368514|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30754660|PMID:30936464|PMID:30997576|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31644632|PMID:31645765|PMID:31655866|PMID:31837199|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32741058|PMID:32906206|PMID:33077954|PMID:33179747|PMID:33209614|PMID:33332384|PMID:33418956|PMID:33441926|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:34008892|PMID:34426522|PMID:34831015|PMID:35181726|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9231911|PMID:9341860|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:2512	nevoid basal cell carcinoma syndrome		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BASAL CELL NEVUS SYNDROME | ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES | ClinVar Annotator: match by term: nevoid basal cell carcinoma syndrome	PMID:10048928|PMID:10564585|PMID:10890722|PMID:11231326|PMID:11387302|PMID:11457640|PMID:11941477|PMID:12192414|PMID:12655573|PMID:12925203|PMID:15042702|PMID:15459969|PMID:15565302|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16906569|PMID:16909134|PMID:16929110|PMID:17001668|PMID:17021131|PMID:17328283|PMID:17576681|PMID:17703323|PMID:18302678|PMID:18373848|PMID:18436435|PMID:18502968|PMID:18830227|PMID:19002359|PMID:19346217|PMID:19362041|PMID:19521425|PMID:19557015|PMID:19618880|PMID:20068110|PMID:21188540|PMID:21368767|PMID:21514272|PMID:21520333|PMID:21567912|PMID:22313357|PMID:22382802|PMID:22434048|PMID:22572734|PMID:22844361|PMID:22952776|PMID:23061468|PMID:23313819|PMID:23951062|PMID:24204797|PMID:24369017|PMID:24651015|PMID:24728327|PMID:24814739|PMID:24816767|PMID:24840883|PMID:25326635|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25727044|PMID:25741868|PMID:26467025|PMID:26544948|PMID:26580448|PMID:26802149|PMID:26893459|PMID:26997948|PMID:27153395|PMID:27444290|PMID:27561271|PMID:27793025|PMID:27993330|PMID:28342698|PMID:28492532|PMID:28495808|PMID:28518168|PMID:28596197|PMID:28690523|PMID:28733979|PMID:29146900|PMID:29212164|PMID:29277811|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30093976|PMID:30102335|PMID:30140199|PMID:30166346|PMID:30256826|PMID:30368514|PMID:30411536|PMID:30754660|PMID:30936464|PMID:30997576|PMID:31127104|PMID:31506931|PMID:31548691|PMID:31644632|PMID:31725470|PMID:31837199|PMID:31911633|PMID:32074614|PMID:32311334|PMID:32409749|PMID:32461654|PMID:32483240|PMID:32741058|PMID:32906206|PMID:33179747|PMID:33418956|PMID:33441926|PMID:34008892|PMID:34185076|PMID:34194672|PMID:34301788|PMID:34426522|PMID:35101336|PMID:35437209|PMID:35884425|PMID:35957908|PMID:36140791|PMID:36307859|PMID:37283107|PMID:38981878|PMID:39148954|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9341860|PMID:9415689|PMID:9536098|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:2512	nevoid basal cell carcinoma syndrome		ISO	RGD:1319156	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BASAL CELL NEVUS SYNDROME | ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES | ClinVar Annotator: match by term: nevoid basal cell carcinoma syndrome	PMID:10048928|PMID:10564585|PMID:10890722|PMID:11231326|PMID:11387302|PMID:11457640|PMID:11941477|PMID:12192414|PMID:12655573|PMID:12925203|PMID:15042702|PMID:15459969|PMID:15565302|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16906569|PMID:16909134|PMID:16929110|PMID:17001668|PMID:17021131|PMID:17328283|PMID:17576681|PMID:17703323|PMID:18302678|PMID:18373848|PMID:18436435|PMID:18502968|PMID:18830227|PMID:19002359|PMID:19346217|PMID:19362041|PMID:19521425|PMID:19557015|PMID:19618880|PMID:20068110|PMID:21188540|PMID:21368767|PMID:21514272|PMID:21520333|PMID:21567912|PMID:22313357|PMID:22382802|PMID:22434048|PMID:22572734|PMID:22703879|PMID:22844361|PMID:22952776|PMID:23061468|PMID:23313819|PMID:23951062|PMID:24033266|PMID:24204797|PMID:24369017|PMID:24651015|PMID:24728327|PMID:24814739|PMID:24816767|PMID:24840883|PMID:24942795|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25727044|PMID:25741868|PMID:26467025|PMID:26544948|PMID:26580448|PMID:26802149|PMID:26893459|PMID:26997948|PMID:27153395|PMID:27444290|PMID:27561271|PMID:27793025|PMID:27993330|PMID:28342698|PMID:28492532|PMID:28495808|PMID:28518168|PMID:28596197|PMID:28690523|PMID:28733979|PMID:29146900|PMID:29212164|PMID:29277811|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30093976|PMID:30102335|PMID:30140199|PMID:30166346|PMID:30256826|PMID:30368514|PMID:30411536|PMID:30754660|PMID:30936464|PMID:30997576|PMID:31127104|PMID:31506931|PMID:31548691|PMID:31644632|PMID:31725470|PMID:31837199|PMID:31911633|PMID:32074614|PMID:32311334|PMID:32409749|PMID:32461654|PMID:32483240|PMID:32741058|PMID:32906206|PMID:33179747|PMID:33418956|PMID:33441926|PMID:34008892|PMID:34185076|PMID:34194672|PMID:34301788|PMID:34426522|PMID:35101336|PMID:35437209|PMID:35884425|PMID:35957908|PMID:36140791|PMID:36307859|PMID:37283107|PMID:38981878|PMID:39148954|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9341860|PMID:9415689|PMID:9536098|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1319156	D	RGD:7240710	20230505	OMIM			
8762701	Ptch1	patched 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1319156	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7	PMID:16301862|PMID:16419085|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8782823|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1319156	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1	PMID:11231326|PMID:11941477|PMID:12925203|PMID:15712338|PMID:16301862|PMID:16419085|PMID:16508594|PMID:17096318|PMID:18510667|PMID:22703879|PMID:23951062|PMID:24728327|PMID:24807215|PMID:25326637|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27153395|PMID:28492532|PMID:28495808|PMID:29205322|PMID:29212164|PMID:29575684|PMID:29654263|PMID:30093976|PMID:30102335|PMID:30411536|PMID:31613886|PMID:31645765|PMID:32409749|PMID:33270637|PMID:33332384|PMID:33674644|PMID:8782823|PMID:8840969|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1319156	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1	PMID:11231326|PMID:11941477|PMID:12925203|PMID:15712338|PMID:16301862|PMID:16419085|PMID:16508594|PMID:17096318|PMID:18510667|PMID:22703879|PMID:23951062|PMID:24728327|PMID:24807215|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27153395|PMID:28492532|PMID:28495808|PMID:29205322|PMID:29212164|PMID:29575684|PMID:29654263|PMID:30093976|PMID:30102335|PMID:30411536|PMID:31613886|PMID:31645765|PMID:32409749|PMID:33270637|PMID:33332384|PMID:33674644|PMID:8782823|PMID:8840969|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1319156	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1	PMID:11231326|PMID:11941477|PMID:12925203|PMID:15712338|PMID:16199547|PMID:16301862|PMID:16419085|PMID:16508594|PMID:17096318|PMID:18510667|PMID:22703879|PMID:23951062|PMID:24728327|PMID:24807215|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27153395|PMID:28492532|PMID:28495808|PMID:29205322|PMID:29212164|PMID:29575684|PMID:29654263|PMID:30093976|PMID:30102335|PMID:30411536|PMID:31613886|PMID:31639285|PMID:31645765|PMID:31911633|PMID:32074614|PMID:32409749|PMID:33270637|PMID:33332384|PMID:33674644|PMID:34301788|PMID:34426522|PMID:35884425|PMID:38981878|PMID:8782823|PMID:8840969|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1319156	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: RASA1-related condition	PMID:11231326|PMID:11941477|PMID:12925203|PMID:15712338|PMID:16199547|PMID:16301862|PMID:16419085|PMID:16508594|PMID:17096318|PMID:18510667|PMID:22703879|PMID:23951062|PMID:24728327|PMID:24807215|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27153395|PMID:28492532|PMID:28495808|PMID:29205322|PMID:29212164|PMID:29575684|PMID:29654263|PMID:30093976|PMID:30102335|PMID:30411536|PMID:31613886|PMID:31639285|PMID:31645765|PMID:31911633|PMID:32074614|PMID:32409749|PMID:33270637|PMID:33332384|PMID:33674644|PMID:34301788|PMID:34426522|PMID:35884425|PMID:38981878|PMID:39148954|PMID:8782823|PMID:8840969|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1319156	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1	PMID:11231326|PMID:11941477|PMID:12925203|PMID:1347096|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16301862|PMID:16419085|PMID:16508594|PMID:17096318|PMID:18502968|PMID:18510667|PMID:19346217|PMID:20068110|PMID:21188540|PMID:22221699|PMID:22703879|PMID:23313819|PMID:23761049|PMID:23951062|PMID:24668667|PMID:24728327|PMID:24807215|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26467025|PMID:26580448|PMID:26893459|PMID:27153395|PMID:28492532|PMID:28495808|PMID:29205322|PMID:29212164|PMID:29498494|PMID:29575684|PMID:29654263|PMID:30093976|PMID:30102335|PMID:30411536|PMID:31613886|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31911633|PMID:32074614|PMID:32409749|PMID:33270637|PMID:33332384|PMID:33674644|PMID:34301788|PMID:34426522|PMID:35884425|PMID:38981878|PMID:39148954|PMID:39434542|PMID:8782823|PMID:8840969|PMID:9463336|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1319156	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: PTCH2-related condition | ClinVar Annotator: match by term: RASA1-related condition	PMID:11231326|PMID:11941477|PMID:12925203|PMID:1347096|PMID:15712338|PMID:16199547|PMID:16301862|PMID:16419085|PMID:16508594|PMID:18502968|PMID:18510667|PMID:19346217|PMID:20068110|PMID:21188540|PMID:22221699|PMID:22703879|PMID:23313819|PMID:23761049|PMID:23951062|PMID:24668667|PMID:24728327|PMID:25326637|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26893459|PMID:27153395|PMID:28492532|PMID:28495808|PMID:29205322|PMID:29212164|PMID:29498494|PMID:29654263|PMID:30093976|PMID:30102335|PMID:30411536|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31911633|PMID:32074614|PMID:32409749|PMID:33270637|PMID:33332384|PMID:33674644|PMID:34301788|PMID:34426522|PMID:35884425|PMID:38981878|PMID:39148954|PMID:39434542|PMID:8782823|PMID:8840969|PMID:9463336|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1319156	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BASAL CELL CARCINOMA, SOMATIC | ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1	PMID:11941477|PMID:16508594|PMID:18502968|PMID:19346217|PMID:22844361|PMID:23313819|PMID:24369017|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27153395|PMID:28492532|PMID:28495808|PMID:29212164|PMID:29654263|PMID:30754660|PMID:31506931|PMID:32409749|PMID:32483240|PMID:34301788|PMID:35884425|PMID:39148954|PMID:39434542
8762701	Ptch1	patched 1	gene	DOID:2513	basal cell carcinoma	disease_progression	ISO	RGD:1319156	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin of body	PMID:10504535|REF_RGD_ID:12801453
8762701	Ptch1	patched 1	gene	DOID:2841	asthma		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:16301862|PMID:16419085|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:3213	demyelinating disease	treatment	ISO	RGD:1319157	D	RGD:9068941	20200609	RGD			PMID:15128833|REF_RGD_ID:12801445
8762701	Ptch1	patched 1	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma	PMID:12170781|PMID:16294371|PMID:24840883|PMID:27993330|PMID:29461635|PMID:8782823
8762701	Ptch1	patched 1	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:1319156	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma	
8762701	Ptch1	patched 1	gene	DOID:3275	thymoma		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8762701	Ptch1	patched 1	gene	DOID:3304	germinoma		ISO	RGD:1319156	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Germinoma	PMID:25741868|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:3459	breast carcinoma		ISO	RGD:1319156	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:3491	Turner syndrome		ISO	RGD:1319156	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Turner syndrome	PMID:25741868|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:1319156	D	RGD:9068941	20211126	RGD			PMID:16475698|REF_RGD_ID:150523841
8762701	Ptch1	patched 1	gene	DOID:3840	craniopharyngioma		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniopharyngioma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34301788|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:3907	lung squamous cell carcinoma	disease_progression	ISO	RGD:1319156	D	RGD:9068941	20211203	RGD		DNA:CNVs	PMID:21889114|REF_RGD_ID:150524337
8762701	Ptch1	patched 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1319156	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung, somatic | ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:4195	hyperglycemia		ISO	RGD:1319156	D	RGD:9068941	20200609	RGD		associated with Pancreatic Neoplasms	PMID:16804411|REF_RGD_ID:2324911
8762701	Ptch1	patched 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8762701	Ptch1	patched 1	gene	DOID:4448	macular degeneration		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macular degeneration	PMID:25741868|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:4621	holoprosencephaly		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microform holoprosencephaly	PMID:25741868|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:4948	gallbladder carcinoma	disease_progression	ISO	RGD:1319156	D	RGD:9068941	20211126	RGD			PMID:22407314|REF_RGD_ID:150523794
8762701	Ptch1	patched 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319156	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8762701	Ptch1	patched 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1319156	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12878215
8762701	Ptch1	patched 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8762701	Ptch1	patched 1	gene	DOID:5522	basaloid squamous cell carcinoma		ISO	RGD:1319156	D	RGD:9068941	20211126	RGD		DNA:missense mutations, nonsense mutations	PMID:25395299|REF_RGD_ID:150523793
8762701	Ptch1	patched 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762701	Ptch1	patched 1	gene	DOID:585	nephrolithiasis		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis	PMID:25741868|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:630	genetic disease		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16301862|PMID:16419085|PMID:24204797|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:674	cleft palate		ISO	RGD:1319156	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16405370
8762701	Ptch1	patched 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1319156	D	RGD:9068941	20211126	RGD			PMID:22911366|REF_RGD_ID:150523842
8762701	Ptch1	patched 1	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1319156	D	RGD:9068941	20211126	RGD			PMID:18538319|REF_RGD_ID:150523837
8762701	Ptch1	patched 1	gene	DOID:768	retinoblastoma		ISO	RGD:1319156	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinoblastoma	PMID:24728327|PMID:25741868|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:769	neuroblastoma		ISO	RGD:1319156	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Neuroblastoma	PMID:25741868|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:16301862|PMID:16419085|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:621425	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain	PMID:23933201|REF_RGD_ID:12859044
8762701	Ptch1	patched 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1319156	D	RGD:9068941	20211126	RGD		associated with colorectal cancer	PMID:20230186|REF_RGD_ID:150523835
8762701	Ptch1	patched 1	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:621425	D	RGD:9068941	20221201	RGD		mRNA,protein:increased expression:choroid:	PMID:21063852|REF_RGD_ID:12859045
8762701	Ptch1	patched 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	
8762701	Ptch1	patched 1	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:11457640|PMID:16301862|PMID:16419085|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:9002362	Hyperkinesis		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkinesis	PMID:25741868|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:621425	D	RGD:9068941	20200609	RGD			PMID:25821409|REF_RGD_ID:12879456
8762701	Ptch1	patched 1	gene	DOID:9002580	Metatarsus Varus		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metatarsus adductus	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral hemorrhage	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:9002904	Primitive Neuroectodermal Tumors		ISO	RGD:1319156	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9581815
8762701	Ptch1	patched 1	gene	DOID:9003132	Sialorrhea		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism | ClinVar Annotator: match by term: hypertelorism	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:9003279	Joint Dislocations		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint subluxation	PMID:25741868|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:26467025|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:9003591	Telecanthus		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:11457640|PMID:16301862|PMID:16419085|PMID:24204797|PMID:25741868|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:16301862|PMID:16419085|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:9004237	Hyperoxic Lung Injury		ISO	RGD:621425	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:22641469|REF_RGD_ID:12859031
8762701	Ptch1	patched 1	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1319156	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9581815
8762701	Ptch1	patched 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868
8762701	Ptch1	patched 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:9005100	Aberrant Crypt Foci		ISO	RGD:1319156	D	RGD:9068941	20211105	RGD		DNA:hypermethylation:colon	PMID:22945423|REF_RGD_ID:150520176
8762701	Ptch1	patched 1	gene	DOID:9005510	Hereditary Leiomyomatosis and Renal Cell Cancer		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer	PMID:25741868
8762701	Ptch1	patched 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:16301862|PMID:16419085|PMID:24204797|PMID:25741868|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:9005729	Chronic Experimental Pancreatitis		ISO	RGD:621425	D	RGD:9068941	20200609	RGD			PMID:24782623|REF_RGD_ID:12879405
8762701	Ptch1	patched 1	gene	DOID:9006065	Arthralgia		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:16301862|PMID:16419085|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:9006796	Gastrointestinal Neoplasms		ISO	RGD:1319157	D	RGD:9068941	20211126	RGD			PMID:19321799|REF_RGD_ID:150523834
8762701	Ptch1	patched 1	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:16301862|PMID:16419085|PMID:28492532
8762701	Ptch1	patched 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8762701	Ptch1	patched 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319156	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10048928|PMID:10200051|PMID:10564585|PMID:11941477|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21325292|PMID:21520333|PMID:21834049|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27793025|PMID:27930734|PMID:28492532|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29205322|PMID:29212164|PMID:29498494|PMID:29575684|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31437519|PMID:31645765|PMID:31655866|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32321774|PMID:32409749|PMID:33077954|PMID:33209614|PMID:33729574|PMID:34426522|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319156	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10048928|PMID:10200051|PMID:10564585|PMID:11941477|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21234763|PMID:21325292|PMID:21520333|PMID:21834049|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27149842|PMID:27153395|PMID:27363716|PMID:27535533|PMID:27561271|PMID:27793025|PMID:27930734|PMID:28492532|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29205322|PMID:29212164|PMID:29498494|PMID:29575684|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31437519|PMID:31645765|PMID:31655866|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32321774|PMID:32409749|PMID:33077954|PMID:33209614|PMID:33729574|PMID:34426522|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319156	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10048928|PMID:10200051|PMID:10564585|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21234763|PMID:21325292|PMID:21490102|PMID:21520333|PMID:21834049|PMID:22193408|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26290144|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27149842|PMID:27153395|PMID:27363716|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:28492532|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32860743|PMID:33077954|PMID:33209614|PMID:33270637|PMID:33332384|PMID:33609447|PMID:33729574|PMID:34426522|PMID:34698632|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9192811|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319156	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21325292|PMID:21490102|PMID:21834049|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26290144|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:28492532|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32860743|PMID:32906206|PMID:33077954|PMID:33209614|PMID:33332384|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:34426522|PMID:34698632|PMID:34831015|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9192811|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319156	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21325292|PMID:21490102|PMID:21834049|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26290144|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:27993330|PMID:28492532|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32860743|PMID:32906206|PMID:33077954|PMID:33209614|PMID:33332384|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:34426522|PMID:34698632|PMID:34831015|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9192811|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319156	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21325292|PMID:21490102|PMID:21834049|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26290144|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:27993330|PMID:28492532|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32860743|PMID:32906206|PMID:33077954|PMID:33179747|PMID:33209614|PMID:33332384|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:34426522|PMID:34698632|PMID:34831015|PMID:35181726|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9192811|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319156	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21325292|PMID:21490102|PMID:21834049|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24807215|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26290144|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:27993330|PMID:28252636|PMID:28492532|PMID:28495808|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:29992659|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30256826|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30762128|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31613886|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:31911633|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32860743|PMID:32906206|PMID:33077954|PMID:33179747|PMID:33209614|PMID:33270637|PMID:33332384|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:33807452|PMID:34194672|PMID:34426522|PMID:34698632|PMID:34831015|PMID:35170016|PMID:35181726|PMID:36693175|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9192811|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319156	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21325292|PMID:21490102|PMID:21520333|PMID:21834049|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22434048|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24807215|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26290144|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:27993330|PMID:28252636|PMID:28492532|PMID:28495808|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:29992659|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30256826|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30762128|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31613886|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:31911633|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32860743|PMID:32906206|PMID:33077954|PMID:33179747|PMID:33209614|PMID:33270637|PMID:33332384|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:33807452|PMID:34194672|PMID:34426522|PMID:34698632|PMID:34831015|PMID:35170016|PMID:35181726|PMID:36693175|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9192811|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319156	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10048928|PMID:10200051|PMID:10890722|PMID:11231326|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21325292|PMID:21490102|PMID:21520333|PMID:21834049|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22434048|PMID:22572734|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24668667|PMID:24728327|PMID:24807215|PMID:24814739|PMID:24942795|PMID:25326635|PMID:25326637|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26290144|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:27993330|PMID:28252636|PMID:28492532|PMID:28495808|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:29992659|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30256826|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30762128|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31613886|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:31911633|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32860743|PMID:32906206|PMID:33077954|PMID:33179747|PMID:33209614|PMID:33270637|PMID:33332384|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:33807452|PMID:34194672|PMID:34426522|PMID:34698632|PMID:34831015|PMID:35170016|PMID:35181726|PMID:36693175|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9192811|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319156	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11231326|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16405370|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:20609239|PMID:21188540|PMID:21325292|PMID:21490102|PMID:21520333|PMID:21834049|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22434048|PMID:22572734|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23665959|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24659465|PMID:24668667|PMID:24728327|PMID:24807215|PMID:24814739|PMID:24942795|PMID:25326635|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26290144|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:27993330|PMID:28252636|PMID:28492532|PMID:28495808|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29255261|PMID:29381605|PMID:29461635|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:29992659|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30256826|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30754660|PMID:30762128|PMID:30900264|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31613886|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:31911633|PMID:32074614|PMID:32191290|PMID:32238911|PMID:32251017|PMID:32255556|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32586046|PMID:32860743|PMID:32906206|PMID:33067351|PMID:33077954|PMID:33179747|PMID:33209614|PMID:33270637|PMID:33314633|PMID:33332384|PMID:33466296|PMID:33486679|PMID:33609447|PMID:33674644|PMID:33729574|PMID:33807452|PMID:34194672|PMID:34301788|PMID:34426522|PMID:34698632|PMID:34831015|PMID:35140749|PMID:35170016|PMID:35181726|PMID:35626111|PMID:35884425|PMID:35957908|PMID:35982978|PMID:36171624|PMID:36693175|PMID:37296477|PMID:37353797|PMID:38509102|PMID:38981878|PMID:39148954|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9192811|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319156	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10048928|PMID:10200051|PMID:10890722|PMID:11231326|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16405370|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16780502|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:20609239|PMID:21188540|PMID:21325292|PMID:21490102|PMID:21520333|PMID:21834049|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22434048|PMID:22572734|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23665959|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24659465|PMID:24668667|PMID:24728327|PMID:24807215|PMID:24814739|PMID:24942795|PMID:25326635|PMID:25326637|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26290144|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:27993330|PMID:28252636|PMID:28492532|PMID:28495808|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29255261|PMID:29381605|PMID:29461635|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:29992659|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30256826|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30754660|PMID:30762128|PMID:30900264|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31613886|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:31911633|PMID:32074614|PMID:32191290|PMID:32238911|PMID:32251017|PMID:32255556|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32586046|PMID:32860743|PMID:32906206|PMID:33067351|PMID:33077954|PMID:33179747|PMID:33209614|PMID:33270637|PMID:33314633|PMID:33332384|PMID:33466296|PMID:33486679|PMID:33609447|PMID:33674644|PMID:33729574|PMID:33807452|PMID:34194672|PMID:34301788|PMID:34426522|PMID:34698632|PMID:34831015|PMID:35140749|PMID:35170016|PMID:35181726|PMID:35626111|PMID:35884425|PMID:35957908|PMID:35982978|PMID:36171624|PMID:36693175|PMID:37296477|PMID:37353797|PMID:38509102|PMID:38981878|PMID:39148954|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9192811|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319156	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10048928|PMID:10200051|PMID:10890722|PMID:11231326|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16405370|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16780502|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20609239|PMID:21188540|PMID:21325292|PMID:21490102|PMID:21520333|PMID:21834049|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22434048|PMID:22572734|PMID:22675565|PMID:22703879|PMID:22820256|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23665959|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25326635|PMID:25326637|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26290144|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:27993330|PMID:28252636|PMID:28492532|PMID:28495808|PMID:28596197|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:30093976|PMID:30102335|PMID:30256826|PMID:30262796|PMID:30411536|PMID:30426508|PMID:30584090|PMID:30666157|PMID:30754660|PMID:30762128|PMID:30900264|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:31911633|PMID:32074614|PMID:32191290|PMID:32238911|PMID:32255556|PMID:32311334|PMID:32409749|PMID:32586046|PMID:32860743|PMID:32906206|PMID:33067351|PMID:33077954|PMID:33179747|PMID:33270637|PMID:33314633|PMID:33332384|PMID:33466296|PMID:33486679|PMID:33609447|PMID:33674644|PMID:33729574|PMID:33807452|PMID:34194672|PMID:34301788|PMID:34426522|PMID:34698632|PMID:34831015|PMID:35140749|PMID:35170016|PMID:35181726|PMID:35626111|PMID:35884425|PMID:35957908|PMID:35982978|PMID:36171624|PMID:36693175|PMID:37296477|PMID:37353797|PMID:37791908|PMID:38509102|PMID:38981878|PMID:39148954|PMID:8302318|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9192811|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10048928|PMID:10890722|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12655573|PMID:12925203|PMID:15459969|PMID:15712338|PMID:16199547|PMID:16301862|PMID:16405370|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16780502|PMID:16929110|PMID:17001668|PMID:17021131|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:19346217|PMID:19557015|PMID:20609239|PMID:21325292|PMID:21520333|PMID:21834049|PMID:23061468|PMID:23313819|PMID:23761049|PMID:24204797|PMID:24728327|PMID:24814739|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26290144|PMID:26467025|PMID:26580448|PMID:26802149|PMID:26890308|PMID:26893459|PMID:27153395|PMID:27561271|PMID:27680694|PMID:27993330|PMID:28492532|PMID:28495808|PMID:28518168|PMID:28596197|PMID:28690523|PMID:28892064|PMID:29146900|PMID:29212164|PMID:29255261|PMID:29381605|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:29908092|PMID:30093976|PMID:30109255|PMID:30256826|PMID:30754660|PMID:30997576|PMID:31113992|PMID:31506931|PMID:31548691|PMID:31725470|PMID:31837199|PMID:31911633|PMID:32074614|PMID:32409749|PMID:32461654|PMID:32483240|PMID:32860743|PMID:32906206|PMID:33077954|PMID:33179747|PMID:34194672|PMID:34301788|PMID:34698632|PMID:35101336|PMID:35884425|PMID:36265746|PMID:39148954|PMID:8658145|PMID:8981943|PMID:9192811|PMID:9415689|PMID:9536098|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319156	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10048928|PMID:10890722|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12655573|PMID:12925203|PMID:15459969|PMID:15712338|PMID:16199547|PMID:16301862|PMID:16405370|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16780502|PMID:16929110|PMID:17001668|PMID:17021131|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:19346217|PMID:19557015|PMID:20609239|PMID:21188540|PMID:21325292|PMID:21520333|PMID:21834049|PMID:22703879|PMID:23061468|PMID:23313819|PMID:23761049|PMID:24033266|PMID:24204797|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26290144|PMID:26467025|PMID:26580448|PMID:26802149|PMID:26890308|PMID:26893459|PMID:27153395|PMID:27561271|PMID:27680694|PMID:27993330|PMID:28492532|PMID:28495808|PMID:28518168|PMID:28596197|PMID:28690523|PMID:28892064|PMID:29146900|PMID:29212164|PMID:29255261|PMID:29381605|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:29908092|PMID:30093976|PMID:30109255|PMID:30256826|PMID:30754660|PMID:30997576|PMID:31113992|PMID:31506931|PMID:31548691|PMID:31725470|PMID:31837199|PMID:31911633|PMID:32074614|PMID:32409749|PMID:32461654|PMID:32483240|PMID:32860743|PMID:32906206|PMID:33077954|PMID:33179747|PMID:34194672|PMID:34301788|PMID:34698632|PMID:35101336|PMID:35884425|PMID:36265746|PMID:39148954|PMID:8658145|PMID:8981943|PMID:9192811|PMID:9415689|PMID:9536098|PMID:9620294
8762701	Ptch1	patched 1	gene	DOID:9007168	Genetic Skin Diseases		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary skin disorder	
8762701	Ptch1	patched 1	gene	DOID:9007388	Heterochromia Iridis		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heterochromia iridis	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:9007402	Gliosis		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gliosis	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1319156	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9581815
8762701	Ptch1	patched 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:9008214	Genu Valgum		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28495808|PMID:31506931|PMID:32483240|PMID:35884425
8762701	Ptch1	patched 1	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868|PMID:28492532|PMID:31837199
8762701	Ptch1	patched 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1319156	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16405370|PMID:18539553
8762701	Ptch1	patched 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8762701	Ptch1	patched 1	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1319156	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
8762701	Ptch1	patched 1	gene	DOID:9296	cleft lip		ISO	RGD:1319156	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16405370
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:25741868
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:0060296	congenital secretory chloride diarrhea 1		ISO	RGD:1346275	D	RGD:7240710	20180130	OMIM			
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:0060296	congenital secretory chloride diarrhea 1		ISO	RGD:1346275	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE | ClinVar Annotator: match by term: Chloridorrhea, congenital | ClinVar Annotator: match by term: SLC26A3-related condition	PMID:10671059|PMID:10881594|PMID:11302976|PMID:11524734|PMID:12411484|PMID:12442266|PMID:16199547|PMID:18216024|PMID:18728535|PMID:18847625|PMID:19861545|PMID:21150650|PMID:21332001|PMID:21394828|PMID:21694535|PMID:21853658|PMID:22779076|PMID:23274434|PMID:23361499|PMID:23756661|PMID:24033266|PMID:24350656|PMID:25568271|PMID:25711268|PMID:25741868|PMID:26157392|PMID:27525615|PMID:28422190|PMID:28492532|PMID:28644346|PMID:28941661|PMID:29086717|PMID:30775050|PMID:31114672|PMID:31325522|PMID:31477378|PMID:31589614|PMID:31680349|PMID:31976143|PMID:33191723|PMID:34503561|PMID:36709934|PMID:8896562|PMID:9554749|PMID:9718329|PMID:9886994
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:0060296	congenital secretory chloride diarrhea 1		ISO	RGD:1346275	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL | ClinVar Annotator: match by term: SLC26A3-related condition	PMID:11524734|PMID:16199547|PMID:21394828|PMID:25741868|PMID:28492532|PMID:28644346|PMID:31477378|PMID:9554749|PMID:9718329
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:0060320	inguinal hernia		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:10301	parotitis		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parotitis	PMID:25741868
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:1059	intellectual disability		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:16199547|PMID:21394828|PMID:22779076|PMID:23274434|PMID:25711268|PMID:25741868|PMID:28492532|PMID:9718329
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:18847625|PMID:21394828|PMID:21853658|PMID:23361499|PMID:24033266|PMID:24350656|PMID:25568271|PMID:25741868|PMID:27525615|PMID:28492532|PMID:28644346|PMID:29086717|PMID:9718329
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:1324	lung cancer		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:13250	diarrhea		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:12411484|PMID:18216024|PMID:19861545|PMID:21332001|PMID:21394828|PMID:24350656|PMID:25741868|PMID:28492532|PMID:28644346|PMID:31976143|PMID:9718329
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25741868
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:1826	epilepsy		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:423	myopathy		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:16199547|PMID:21394828|PMID:22779076|PMID:23274434|PMID:25711268|PMID:25741868|PMID:28492532|PMID:9718329
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:4500	hypokalemia		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypokalemia	PMID:16199547|PMID:21394828|PMID:22779076|PMID:23274434|PMID:25711268|PMID:25741868|PMID:28492532|PMID:9718329
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:576	proteinuria		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:18847625|PMID:21394828|PMID:21853658|PMID:23361499|PMID:24033266|PMID:24350656|PMID:25568271|PMID:25741868|PMID:27525615|PMID:28492532|PMID:28644346|PMID:29086717|PMID:9718329
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:630	genetic disease		ISO	RGD:1346275	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:8437	intestinal obstruction		ISO	RGD:1346275	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Intestinal obstruction	PMID:21394828|PMID:25741868|PMID:28492532|PMID:31680349|PMID:33191723|PMID:34503561|PMID:9718329
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:8488	polyhydramnios		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:19861545|PMID:21394828|PMID:24350656|PMID:25741868|PMID:28492532|PMID:31680349|PMID:31976143|PMID:33191723|PMID:34503561|PMID:8896562|PMID:9718329
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:8577	ulcerative colitis		ISO	RGD:1346275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19915573
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25741868
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:16199547|PMID:21394828|PMID:22779076|PMID:23274434|PMID:25711268|PMID:25741868|PMID:28492532|PMID:9718329
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:9001740	Blue Nevus		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blue nevus	PMID:16199547|PMID:21394828|PMID:22779076|PMID:23274434|PMID:25711268|PMID:25741868|PMID:28492532|PMID:9718329
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:9003507	Premature Birth		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:9003816	Macrocephaly		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:16199547|PMID:21394828|PMID:22779076|PMID:23274434|PMID:25711268|PMID:25741868|PMID:28492532|PMID:9718329
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:9004898	Jaundice		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:19861545
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:16199547|PMID:21394828|PMID:22779076|PMID:23274434|PMID:25711268|PMID:25741868|PMID:28492532|PMID:9718329
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:9006635	Hyponatremia		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyponatremia	PMID:21394828|PMID:24350656|PMID:25741868|PMID:28492532|PMID:31976143
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16199547|PMID:21394828|PMID:22779076|PMID:23274434|PMID:25711268|PMID:25741868|PMID:28492532|PMID:9718329
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1346275	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	PMID:21394828|PMID:25741868|PMID:28492532|PMID:31680349|PMID:33191723|PMID:34503561|PMID:9718329
8762763	Slc26a3	solute carrier family 26 member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8762786	Cd151	CD151 molecule (Raph blood group)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8762786	Cd151	CD151 molecule (Raph blood group)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8762786	Cd151	CD151 molecule (Raph blood group)	gene	DOID:10534	stomach cancer		ISO	RGD:733300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8762786	Cd151	CD151 molecule (Raph blood group)	gene	DOID:1324	lung cancer		ISO	RGD:733300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8762786	Cd151	CD151 molecule (Raph blood group)	gene	DOID:5041	esophageal cancer		ISO	RGD:733300	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8762786	Cd151	CD151 molecule (Raph blood group)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762786	Cd151	CD151 molecule (Raph blood group)	gene	DOID:630	genetic disease		ISO	RGD:733300	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8762786	Cd151	CD151 molecule (Raph blood group)	gene	DOID:9004850	Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness		ISO	RGD:733300	D	RGD:7240710	20180130	OMIM			
8762786	Cd151	CD151 molecule (Raph blood group)	gene	DOID:9004850	Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness		ISO	RGD:733300	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CD151-related condition | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 7, WITH NEPHROPATHY AND DEAFNESS | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 7, with nephropathy and deafness	PMID:17576681|PMID:25741868|PMID:25741871|PMID:28492532|PMID:34853893|PMID:35102923|PMID:9536098
8762786	Cd151	CD151 molecule (Raph blood group)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8762786	Cd151	CD151 molecule (Raph blood group)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8762786	Cd151	CD151 molecule (Raph blood group)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8762819	Ddx39b	DExD-box helicase 39B	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:737407	D	RGD:9068941	20200609	RGD			PMID:11756005|REF_RGD_ID:13702905
8762838	Casc3	CASC3 exon junction complex subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8762838	Casc3	CASC3 exon junction complex subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1353876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8762838	Casc3	CASC3 exon junction complex subunit	gene	DOID:1909	melanoma		ISO	RGD:1353876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8762838	Casc3	CASC3 exon junction complex subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762838	Casc3	CASC3 exon junction complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8762838	Casc3	CASC3 exon junction complex subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8762838	Casc3	CASC3 exon junction complex subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8762860	Cdc42ep2	CDC42 effector protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762875	Mc3r	melanocortin 3 receptor	gene	DOID:9004713	Acute-Phase Reaction		ISO	RGD:3056	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:22183812|REF_RGD_ID:6484138
8762875	Mc3r	melanocortin 3 receptor	gene	DOID:9970	obesity		ISO	RGD:1345990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:19091795|PMID:25741868|PMID:28492532
8762875	Mc3r	melanocortin 3 receptor	gene	DOID:9970	obesity	susceptibility	ISO	RGD:1345990	D	RGD:9068941	20240208	RGD		DNA:missense mutations:cds:p.T6K, p.V81I (human)	PMID:16123355|REF_RGD_ID:6484587
8762880	Actl6a	actin like 6A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8762880	Actl6a	actin like 6A	gene	DOID:0050840	cervical dystonia		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868|PMID:28649782
8762880	Actl6a	actin like 6A	gene	DOID:0060320	inguinal hernia		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868|PMID:28649782
8762880	Actl6a	actin like 6A	gene	DOID:0060321	umbilical hernia		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868|PMID:28649782
8762880	Actl6a	actin like 6A	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:28649782
8762880	Actl6a	actin like 6A	gene	DOID:0070297	primary microcephaly		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:28649782
8762880	Actl6a	actin like 6A	gene	DOID:0080833	laryngomalacia		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
8762880	Actl6a	actin like 6A	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868
8762880	Actl6a	actin like 6A	gene	DOID:10534	stomach cancer		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8762880	Actl6a	actin like 6A	gene	DOID:1059	intellectual disability		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28649782
8762880	Actl6a	actin like 6A	gene	DOID:1059	intellectual disability		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868
8762880	Actl6a	actin like 6A	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8762880	Actl6a	actin like 6A	gene	DOID:11111	hydronephrosis		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
8762880	Actl6a	actin like 6A	gene	DOID:1115	sarcoma		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8762880	Actl6a	actin like 6A	gene	DOID:1205	allergic disease		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:25741868
8762880	Actl6a	actin like 6A	gene	DOID:12849	autistic disorder		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:19215055|PMID:25741868|PMID:28649782|PMID:31994175
8762880	Actl6a	actin like 6A	gene	DOID:12849	autistic disorder		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28649782
8762880	Actl6a	actin like 6A	gene	DOID:1657	ventricular septal defect		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28649782
8762880	Actl6a	actin like 6A	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:28649782
8762880	Actl6a	actin like 6A	gene	DOID:1909	melanoma		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8762880	Actl6a	actin like 6A	gene	DOID:2841	asthma		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
8762880	Actl6a	actin like 6A	gene	DOID:535	sleep disorder		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868
8762880	Actl6a	actin like 6A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762880	Actl6a	actin like 6A	gene	DOID:630	genetic disease		ISO	RGD:1603412	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8762880	Actl6a	actin like 6A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8762880	Actl6a	actin like 6A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8762880	Actl6a	actin like 6A	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:28649782
8762880	Actl6a	actin like 6A	gene	DOID:9000727	Syncope		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:25741868|PMID:28649782
8762880	Actl6a	actin like 6A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28649782
8762880	Actl6a	actin like 6A	gene	DOID:9001722	Dysarthria		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
8762880	Actl6a	actin like 6A	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
8762880	Actl6a	actin like 6A	gene	DOID:9003133	Hypertelorism		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8762880	Actl6a	actin like 6A	gene	DOID:9004507	Hirsutism		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868|PMID:28649782
8762880	Actl6a	actin like 6A	gene	DOID:9005077	Joint Instability		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28649782
8762880	Actl6a	actin like 6A	gene	DOID:9006878	Exercise Intolerance		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Exercise intolerance	PMID:25741868
8762880	Actl6a	actin like 6A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8762880	Actl6a	actin like 6A	gene	DOID:9007573	Flatfoot		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8762880	Actl6a	actin like 6A	gene	DOID:9007921	Spina Bifida Cystica		ISO	RGD:1307747	D	RGD:9068941	20200609	RGD			PMID:23677776|REF_RGD_ID:9587760
8762880	Actl6a	actin like 6A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8762880	Actl6a	actin like 6A	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pain insensitivity	PMID:25741868
8762880	Actl6a	actin like 6A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8762880	Actl6a	actin like 6A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8762880	Actl6a	actin like 6A	gene	DOID:9834	hyperopia		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
8762910	Triml1	tripartite motif family like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8762910	Triml1	tripartite motif family like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1605231	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8762910	Triml1	tripartite motif family like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1605231	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8762910	Triml1	tripartite motif family like 1	gene	DOID:1324	lung cancer		ISO	RGD:1605231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8762910	Triml1	tripartite motif family like 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8762910	Triml1	tripartite motif family like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8762947	Fbxo16	F-box protein 16	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8762947	Fbxo16	F-box protein 16	gene	DOID:10534	stomach cancer		ISO	RGD:1312847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8762947	Fbxo16	F-box protein 16	gene	DOID:1324	lung cancer		ISO	RGD:1312847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8762947	Fbxo16	F-box protein 16	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8762947	Fbxo16	F-box protein 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762947	Fbxo16	F-box protein 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8762947	Fbxo16	F-box protein 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8762947	Fbxo16	F-box protein 16	gene	DOID:9256	colorectal cancer		ISO	RGD:1312847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8762968	Rcor3	REST corepressor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8762968	Rcor3	REST corepressor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8762968	Rcor3	REST corepressor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1350848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8762968	Rcor3	REST corepressor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8762968	Rcor3	REST corepressor 3	gene	DOID:1115	sarcoma		ISO	RGD:1350848	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8762968	Rcor3	REST corepressor 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8762968	Rcor3	REST corepressor 3	gene	DOID:3275	thymoma		ISO	RGD:1350848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8762968	Rcor3	REST corepressor 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8762968	Rcor3	REST corepressor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1350848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8762968	Rcor3	REST corepressor 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8762968	Rcor3	REST corepressor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762968	Rcor3	REST corepressor 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1350848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8762968	Rcor3	REST corepressor 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8762968	Rcor3	REST corepressor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8762968	Rcor3	REST corepressor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8762968	Rcor3	REST corepressor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8762968	Rcor3	REST corepressor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8762999	Trmt9b	tRNA methyltransferase 9B (putative)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8762999	Trmt9b	tRNA methyltransferase 9B (putative)	gene	DOID:0060058	lymphoma		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8762999	Trmt9b	tRNA methyltransferase 9B (putative)	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8762999	Trmt9b	tRNA methyltransferase 9B (putative)	gene	DOID:3275	thymoma		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8762999	Trmt9b	tRNA methyltransferase 9B (putative)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8762999	Trmt9b	tRNA methyltransferase 9B (putative)	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8762999	Trmt9b	tRNA methyltransferase 9B (putative)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8762999	Trmt9b	tRNA methyltransferase 9B (putative)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8762999	Trmt9b	tRNA methyltransferase 9B (putative)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8762999	Trmt9b	tRNA methyltransferase 9B (putative)	gene	DOID:9256	colorectal cancer		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8763015	Samd14	sterile alpha motif domain containing 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8763015	Samd14	sterile alpha motif domain containing 14	gene	DOID:10534	stomach cancer		ISO	RGD:1602057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8763015	Samd14	sterile alpha motif domain containing 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8763015	Samd14	sterile alpha motif domain containing 14	gene	DOID:1115	sarcoma		ISO	RGD:1602057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8763015	Samd14	sterile alpha motif domain containing 14	gene	DOID:1324	lung cancer		ISO	RGD:1602057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8763015	Samd14	sterile alpha motif domain containing 14	gene	DOID:3275	thymoma		ISO	RGD:1602057	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8763015	Samd14	sterile alpha motif domain containing 14	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1602057	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
8763015	Samd14	sterile alpha motif domain containing 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8763015	Samd14	sterile alpha motif domain containing 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8763029	Plek2	pleckstrin 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8763051	Slc26a5	solute carrier family 26 member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8763051	Slc26a5	solute carrier family 26 member 5	gene	DOID:0110513	autosomal recessive nonsyndromic deafness 61		ISO	RGD:1603482	D	RGD:7240710	20180130	OMIM			
8763051	Slc26a5	solute carrier family 26 member 5	gene	DOID:0110513	autosomal recessive nonsyndromic deafness 61		ISO	RGD:1603482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 61 | ClinVar Annotator: match by term: SLC26A5-related condition	PMID:12239568|PMID:24033266|PMID:24164807|PMID:25741868|PMID:26467025|PMID:28492532
8763051	Slc26a5	solute carrier family 26 member 5	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1621439	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:organ of Corti (mouse)	PMID:19363478|REF_RGD_ID:9585667
8763051	Slc26a5	solute carrier family 26 member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1603482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8763051	Slc26a5	solute carrier family 26 member 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8763051	Slc26a5	solute carrier family 26 member 5	gene	DOID:1459	hypothyroidism		ISO	RGD:1621439	D	RGD:9068941	20200609	RGD		Secondary Hypothyroidism;protein:altered expression:cochlear outer hair cell (mouse)	PMID:19176829|REF_RGD_ID:9585687
8763051	Slc26a5	solute carrier family 26 member 5	gene	DOID:1459	hypothyroidism		ISO	RGD:69334	D	RGD:9068941	20200609	RGD		protein:altered expression:cochlear outer hair cell (rat)	PMID:17520268|REF_RGD_ID:9585686
8763051	Slc26a5	solute carrier family 26 member 5	gene	DOID:3275	thymoma		ISO	RGD:1603482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8763051	Slc26a5	solute carrier family 26 member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8763051	Slc26a5	solute carrier family 26 member 5	gene	DOID:630	genetic disease		ISO	RGD:1603482	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8763051	Slc26a5	solute carrier family 26 member 5	gene	DOID:9000307	Presbycusis		ISO	RGD:69334	D	RGD:9068941	20200609	RGD		protein:altered expression:cochlear outer hair cell (rat)	PMID:19111601|REF_RGD_ID:9585690
8763051	Slc26a5	solute carrier family 26 member 5	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:1621439	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:cochlea (mouse)	PMID:24376553|REF_RGD_ID:9585684
8763051	Slc26a5	solute carrier family 26 member 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8763051	Slc26a5	solute carrier family 26 member 5	gene	DOID:9004538	Hearing Loss		ISO	RGD:1603482	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:34273409
8763051	Slc26a5	solute carrier family 26 member 5	gene	DOID:9004538	Hearing Loss		ISO	RGD:1603482	D	RGD:9068941	20260604	RGD		DNA:snp:intron:IVS2-2A>G (human)	PMID:12719379|REF_RGD_ID:9479050
8763051	Slc26a5	solute carrier family 26 member 5	gene	DOID:9004538	Hearing Loss		ISO	RGD:1621439	D	RGD:9068941	20260604	RGD			PMID:15319415|REF_RGD_ID:9479049
8763051	Slc26a5	solute carrier family 26 member 5	gene	DOID:9004538	Hearing Loss	no_association	ISO	RGD:1603482	D	RGD:9068941	20200609	RGD		DNA:snp:intron:IVS2-2A>G (human)	PMID:16086836|REF_RGD_ID:9479051
8763051	Slc26a5	solute carrier family 26 member 5	gene	DOID:9007966	Nonsyndromic Sensorineural Hearing Loss		ISO	RGD:1603482	D	RGD:9068941	20200609	RGD		DNA:snp:intron:IVS2-2A>G (human)	PMID:23554706|REF_RGD_ID:7364803
8763051	Slc26a5	solute carrier family 26 member 5	gene	DOID:9008681	Deafness		ISO	RGD:1603482	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:12719379
8763051	Slc26a5	solute carrier family 26 member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8763079	Tef	TEF transcription factor, PAR bZIP family member	gene	DOID:4362	cervical cancer		ISO	RGD:1345103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8763079	Tef	TEF transcription factor, PAR bZIP family member	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8763079	Tef	TEF transcription factor, PAR bZIP family member	gene	DOID:9256	colorectal cancer		ISO	RGD:1345103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8763089	Ppp1r36	protein phosphatase 1 regulatory subunit 36	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8763089	Ppp1r36	protein phosphatase 1 regulatory subunit 36	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8763089	Ppp1r36	protein phosphatase 1 regulatory subunit 36	gene	DOID:10534	stomach cancer		ISO	RGD:1319175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8763089	Ppp1r36	protein phosphatase 1 regulatory subunit 36	gene	DOID:1115	sarcoma		ISO	RGD:1319175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8763089	Ppp1r36	protein phosphatase 1 regulatory subunit 36	gene	DOID:12849	autistic disorder		ISO	RGD:1319175	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
8763089	Ppp1r36	protein phosphatase 1 regulatory subunit 36	gene	DOID:5041	esophageal cancer		ISO	RGD:1319175	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8763089	Ppp1r36	protein phosphatase 1 regulatory subunit 36	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8763089	Ppp1r36	protein phosphatase 1 regulatory subunit 36	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8763104	Gas2l2	growth arrest specific 2 like 2	gene	DOID:0110599	primary ciliary dyskinesia 3		ISO	RGD:1317311	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia 3	
8763104	Gas2l2	growth arrest specific 2 like 2	gene	DOID:0111858	primary ciliary dyskinesia 41		ISO	RGD:1317311	D	RGD:7240710	20190626	OMIM			
8763104	Gas2l2	growth arrest specific 2 like 2	gene	DOID:0111858	primary ciliary dyskinesia 41		ISO	RGD:1317311	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 41 | ClinVar Annotator: match by term: GAS2L2-related condition | ClinVar Annotator: match by term: ciliary dyskinesia, primary, 41	PMID:25741868
8763104	Gas2l2	growth arrest specific 2 like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8763118	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1319960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8763118	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8763118	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:0111469	combined oxidative phosphorylation deficiency 16		ISO	RGD:1319960	D	RGD:7240710	20180130	OMIM			
8763118	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:0111469	combined oxidative phosphorylation deficiency 16		ISO	RGD:1319960	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 | ClinVar Annotator: match by term: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | ClinVar Annotator: match by term: MRPL44-related condition	PMID:23315540|PMID:25326637|PMID:25741868|PMID:25797485|PMID:26001801|PMID:26968897|PMID:28492532|PMID:33726816
8763118	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:0111474	combined oxidative phosphorylation deficiency 1		ISO	RGD:1319960	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1	PMID:25741868
8763118	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:1596	depressive disorder		ISO	RGD:1319960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
8763118	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:1826	epilepsy		ISO	RGD:1319960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
8763118	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:2030	anxiety disorder		ISO	RGD:1319960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8763118	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:4362	cervical cancer		ISO	RGD:1319960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8763118	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8763118	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:630	genetic disease		ISO	RGD:1319960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8763118	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8763118	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:9007736	Vertigo		ISO	RGD:1319960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
8763118	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8763126	Ggct	gamma-glutamylcyclotransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8763126	Ggct	gamma-glutamylcyclotransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1312569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8763126	Ggct	gamma-glutamylcyclotransferase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8763126	Ggct	gamma-glutamylcyclotransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8763126	Ggct	gamma-glutamylcyclotransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0050486	exanthem		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16096327
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0050589	inflammatory bowel disease	treatment	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:12184521|REF_RGD_ID:10450573
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0050741	alcohol dependence		ISO	RGD:1344540	D	RGD:9068941	20240718	RGD		protein:increased expression:blood	PMID:14634483|REF_RGD_ID:405878079
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0050742	nicotine dependence	treatment	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Graves Ophthalmopathy	PMID:10792346|REF_RGD_ID:8549806
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0050854	Muckle-Wells syndrome		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:22146561|REF_RGD_ID:6906895
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0051061	stroke		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12374626
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0051061	stroke		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		rat model treated with human protein	PMID:22781338|REF_RGD_ID:6909180
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0060496	respiratory allergy		ISO	RGD:733437	D	RGD:9068941	20200609	RGD			PMID:12663678|REF_RGD_ID:4143222
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0060971	interstitial lung disease 2		ISO	RGD:1344540	D	RGD:8554872	20240702	ClinVar		ClinVar Annotator: match by term: Interstitial lung disease 2	PMID:16199547|PMID:19494218|PMID:21792839|PMID:22940634|PMID:26100510|PMID:28492532
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0061225	interleukin-1 receptor antagonist deficiency		ISO	RGD:1344540	D	RGD:7240710	20180606	OMIM			
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0061225	interleukin-1 receptor antagonist deficiency		ISO	RGD:1344540	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 2, WITH PERIOSTITIS AND PUSTULOSIS | ClinVar Annotator: match by term: Osteomyelitis, sterile multifocal, with periostitis and pustulosis | ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis	PMID:16519819|PMID:17576681|PMID:19280228|PMID:19494218|PMID:19729864|PMID:20213597|PMID:20842532|PMID:21792839|PMID:22127713|PMID:22940634|PMID:24033266|PMID:24863340|PMID:25501066|PMID:25741868|PMID:26100510|PMID:28236224|PMID:28492532|PMID:32819369|PMID:9536098
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0080158	herpes simplex virus keratitis	treatment	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		human protein in a mouse model	PMID:15258192|REF_RGD_ID:8549793
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0080162	lupus nephritis	resistance	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Lupus Erythematosus, Systemic; protein:increased expression:serum (human)	PMID:20538031|REF_RGD_ID:6907068
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0080178	mucositis		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20844880
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1344540	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:35654975
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	severity	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with morbid obesity, protein:increased expression:serum (human)	PMID:22027586|REF_RGD_ID:14401582
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0080600	COVID-19		ISO	RGD:1344540	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0080652	calcium oxalate nephrolithiasis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human)	PMID:17258699|REF_RGD_ID:6907128
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0080998	acute necrotizing pancreatitis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		rat model treated with human protein	PMID:7736749|REF_RGD_ID:8551826
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0081120	Graves ophthalmopathy	severity	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:12186498|REF_RGD_ID:7387296
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0081120	Graves ophthalmopathy	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:snp:exon:11100 C>T (rs315952) (human)	PMID:19702713|REF_RGD_ID:8549808
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:8049450|REF_RGD_ID:6909143
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:10126	keratoconus	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:snp:intron:c.214+242C>T (human)	PMID:23462747|REF_RGD_ID:8549797
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:10140	dry eye syndrome		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:tears (human)	PMID:20508732|REF_RGD_ID:8551707
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:10247	pleurisy		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:8491511|REF_RGD_ID:4143233
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:10325	silicosis	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:SNP (human)	PMID:11264025|REF_RGD_ID:4142816
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:10325	silicosis	treatment	ISO	RGD:621159	D	RGD:9068941	20200609	RGD			PMID:23842733|REF_RGD_ID:8551847
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:10327	anthracosis		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20005085
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:10459	common cold		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:18279051|REF_RGD_ID:4143207
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:10459	common cold		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal mucus	PMID:10358201|REF_RGD_ID:4143183
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:10533	viral pneumonia		ISO	RGD:1344540	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:10534	stomach cancer		ISO	RGD:1344540	D	RGD:7240710	20220209	OMIM			
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:10591	pre-eclampsia		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:21126355|REF_RGD_ID:6906962
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:106	pleural tuberculosis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:repeat (human)	PMID:10377182|REF_RGD_ID:4143226
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:10763	hypertension		ISO	RGD:621159	D	RGD:9068941	20200609	RGD			PMID:11585563|REF_RGD_ID:1626668
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:polymorphisms	PMID:11840488|REF_RGD_ID:1626667
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:11054	urinary bladder cancer	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)	PMID:19489682|REF_RGD_ID:6907081
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:11054	urinary bladder cancer	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:IVS2+914_1000dup multiple (human)	PMID:16698387|REF_RGD_ID:6907367
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:11123	IgA vasculitis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)	PMID:9186886|REF_RGD_ID:6909151
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:11204	allergic conjunctivitis	treatment	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		human protein in a mouse model	PMID:10549671|REF_RGD_ID:8549802
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:11382	corneal neovascularization	treatment	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		human protein in mouse model	PMID:10359324|REF_RGD_ID:8549790
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:11382	corneal neovascularization	treatment	ISO	RGD:733437	D	RGD:9068941	20200609	RGD			PMID:12202509|REF_RGD_ID:8549796
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:8810593|REF_RGD_ID:4143190
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:621159	D	RGD:9068941	20200609	RGD			PMID:22810359|REF_RGD_ID:6909177
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:11394	adult respiratory distress syndrome	disease_progression	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:8686976|REF_RGD_ID:4143191
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:11400	pyelonephritis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:urine (human)	PMID:8640042|REF_RGD_ID:6907372
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:11446	sciatic neuropathy		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		rat model treated with human protein	PMID:12574433|REF_RGD_ID:7175064
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:11476	osteoporosis	treatment	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:8182127|REF_RGD_ID:8551834
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:11573	listeriosis	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:8855299|REF_RGD_ID:11522760
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:11650	bronchopulmonary dysplasia		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:15539764|REF_RGD_ID:4143172
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:11650	bronchopulmonary dysplasia	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Premature Birth;DNA:polymorphism::	PMID:22882323|REF_RGD_ID:12910846
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:11656	cicatricial pemphigoid		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:11448121|REF_RGD_ID:8549794
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:11713	diabetic angiopathy		ISO	RGD:1344540	D	RGD:7240710	20180130	OMIM			
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:IVS2+914_1000dup IL1RN*1, IL1RN*2 (human)	PMID:14758530|REF_RGD_ID:6907374
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:11981	morbid obesity		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:11889184|REF_RGD_ID:1626666
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:12554	hemolytic-uremic syndrome		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:12373296|REF_RGD_ID:6909171
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:12554	hemolytic-uremic syndrome		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased concentration:serum (human)	PMID:9802632|REF_RGD_ID:6909134
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:12849	autistic disorder		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11803234
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29114965
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)	PMID:9646842|REF_RGD_ID:8549786
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:conjunctiva (human)	PMID:11527941|REF_RGD_ID:8549807
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:13139	crescentic glomerulonephritis	treatment	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:7637259|REF_RGD_ID:8551712
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:13189	gout		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18403674
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:1324	lung cancer		ISO	RGD:1344540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:13241	Behcet's disease		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:14600787|REF_RGD_ID:7401213
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:13250	diarrhea		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20844880
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:8239179|REF_RGD_ID:4143198
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:1407	anterior uveitis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		human gene in rabbit model	PMID:19693263|REF_RGD_ID:8551704
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:14115	toxic shock syndrome	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphism::	PMID:23014359|REF_RGD_ID:11522756
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:14115	toxic shock syndrome	treatment	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:15516267|REF_RGD_ID:8551736
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:14654	prostatitis		ISO	RGD:733437	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate gland (mouse)	PMID:21681776|REF_RGD_ID:6906929
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:1485	cystic fibrosis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood, neutrophil	PMID:12547728|REF_RGD_ID:4143175
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:1485	cystic fibrosis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum	PMID:10515411|REF_RGD_ID:4143181
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:1532	pleural disease		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:alveolar macrophage	PMID:8325116|REF_RGD_ID:4143201
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:1596	depressive disorder		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Status Epilepticus; rat model treated with human protein	PMID:22427156|REF_RGD_ID:7174694
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:178	vascular disease		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		mouse model treated with human protein; associated with Diabetes Mellitus, Type 2	PMID:22081301|REF_RGD_ID:6906924
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:1824	status epilepticus		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19010416
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:1909	melanoma		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		mouse model treated with human protein	PMID:8168095|REF_RGD_ID:6909140
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:20412072|REF_RGD_ID:8551852
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:224	transient cerebral ischemia		ISO	RGD:621159	D	RGD:9068941	20200609	RGD			PMID:15837124|REF_RGD_ID:1626674
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2316	brain ischemia		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9236716
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2377	multiple sclerosis		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25458313
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:11889437|REF_RGD_ID:4143176
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2841	asthma		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9176529
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2841	asthma		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:16724092|PMID:18763028|REF_RGD_ID:4142802|REF_RGD_ID:4143209
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2841	asthma		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA, protein:repeat, decreased expression (human)	PMID:11027520|REF_RGD_ID:4143224
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2841	asthma	severity	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:10843772|REF_RGD_ID:4143225
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2234678 (human)	PMID:17107994|REF_RGD_ID:4143208
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple (human)	PMID:15020290|REF_RGD_ID:4143216
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs447713, rs3087271 (human)	PMID:16409203|REF_RGD_ID:4143163
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron (human)	PMID:18926055|REF_RGD_ID:4142864
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:285	hairy cell leukemia	treatment	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:9613675|REF_RGD_ID:11522762
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2921	glomerulonephritis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		mouse model treated with human protein	PMID:22241891|REF_RGD_ID:6906885
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2921	glomerulonephritis		ISO	RGD:733437	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney (mouse)	PMID:21304992|REF_RGD_ID:6906960
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1344540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:16519819|PMID:19729864|PMID:20842532|PMID:24033266|PMID:24863340|PMID:25501066|PMID:25741868|PMID:28236224|PMID:28492532
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2942	bronchiolitis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:8608647|REF_RGD_ID:4143192
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:14619382|REF_RGD_ID:4143174
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, serum	PMID:10543265|REF_RGD_ID:4143180
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2957	pulmonary tuberculosis	severity	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:10631206|REF_RGD_ID:4143179
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)	PMID:10916103|REF_RGD_ID:6906961
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		mouse model treated with human protein	PMID:9370186|REF_RGD_ID:6909150
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum, urine (human)	PMID:16209246|REF_RGD_ID:6907414
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		rat model treated with human protein	PMID:10079261|REF_RGD_ID:6909131
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		response to immunoglobulin therapy	PMID:9844059|REF_RGD_ID:6909132
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:733437	D	RGD:9068941	20200609	RGD			PMID:10566895|REF_RGD_ID:6907427
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:2986	IgA glomerulonephritis	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:intron, 3' utr:IVS1+1890G>T, IVS1+8796A>G, *138C>G (rs928940, rs439154, rs315951) (human)	PMID:19280228|REF_RGD_ID:6907082
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:3021	acute kidney failure		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Asphyxia; rat model treated with human protein	PMID:16259926|REF_RGD_ID:6907369
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:3021	acute kidney failure		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Sepsis	PMID:16763508|REF_RGD_ID:6907360
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:3021	acute kidney failure		ISO	RGD:733437	D	RGD:9068941	20200609	RGD			PMID:14610321|REF_RGD_ID:6907375
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:3082	interstitial lung disease		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Scleroderma, Systemic;protein:increased expression:plasma	PMID:20404807|REF_RGD_ID:4142853
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:3082	interstitial lung disease		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:alveolar macrophage	PMID:8342915|REF_RGD_ID:4143199
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:19291375|REF_RGD_ID:4142861
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:3083	chronic obstructive pulmonary disease	no_association	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:polymorphism (human)	PMID:18364273|REF_RGD_ID:4142868
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron (human)	PMID:18579366|REF_RGD_ID:4142866
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:3275	thymoma		ISO	RGD:1344540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		human gene in a rat model	PMID:7790404|REF_RGD_ID:8551708
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:37	skin disease		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338|PMID:7706905
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18403674
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:7767546|REF_RGD_ID:4143194
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:3770	pulmonary fibrosis	disease_progression	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:polymorphism (human)	PMID:17056243|REF_RGD_ID:4142874
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:3770	pulmonary fibrosis	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:polymorphism (human)	PMID:10934117|REF_RGD_ID:4143177
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:3904	bronchus carcinoma		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression, alternative forms:lung	PMID:8030748|REF_RGD_ID:4143231
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:polymorphism (human)	PMID:16126303|REF_RGD_ID:4143167
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:4195	hyperglycemia		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1; protein:decreased expression:urine (human)	PMID:12679866|REF_RGD_ID:6907426
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:4362	cervical cancer		ISO	RGD:1344540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:4371	Schnitzler syndrome		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16096327
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:4371	Schnitzler syndrome	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:16096327|REF_RGD_ID:11522758
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:17031403|REF_RGD_ID:6907413
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:4483	rhinitis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:15178892|REF_RGD_ID:4143215
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:4483	rhinitis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Hypersensitivity	PMID:10224452|REF_RGD_ID:4143227
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:4483	rhinitis	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Hypersensitivity;DNA:repeat:intron (human)	PMID:14533660|REF_RGD_ID:4142859
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:621159	D	RGD:9068941	20200609	RGD			PMID:20071465|REF_RGD_ID:4145614
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:5041	esophageal cancer		ISO	RGD:1344540	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:5199	ureteral obstruction		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		mouse model treated with human protein	PMID:21975862|REF_RGD_ID:6906925
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:5199	ureteral obstruction		ISO	RGD:733437	D	RGD:9068941	20200609	RGD			PMID:11123344|REF_RGD_ID:6909121
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:552	pneumonia		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:16369129|REF_RGD_ID:4143213
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:552	pneumonia		ISO	RGD:1344540	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:552	pneumonia		ISO	RGD:621159	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bronchioalveolar lavage fluid, neutrophil (rat)	PMID:1385928|REF_RGD_ID:8551846
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:552	pneumonia		ISO	RGD:733437	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:17569781|REF_RGD_ID:4142871
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:552	pneumonia	disease_progression	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron (human)	PMID:18838927|REF_RGD_ID:4142865
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:552	pneumonia	no_association	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:polymorphism (human)	PMID:19900796|REF_RGD_ID:4143204
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:557	kidney disease		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9370186
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:576	proteinuria		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9370186
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:576	proteinuria		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Glomerulonephritis, IGA; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)	PMID:12138282|REF_RGD_ID:6909118
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:5844	myocardial infarction		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18474815|PMID:19005744
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:630	genetic disease		ISO	RGD:1344540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:631	fibromyalgia	severity	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:10341365|REF_RGD_ID:8549787
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:633	myositis		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10886238
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:633	myositis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle (human)	PMID:18251582|REF_RGD_ID:8549795
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:7946395|REF_RGD_ID:4143197
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:6713	cerebrovascular disease		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29114965
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:19192274|PMID:7706905
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:19447938|REF_RGD_ID:7174696
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:733437	D	RGD:9068941	20200609	RGD			PMID:10637275|REF_RGD_ID:8549810
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:783	end stage renal disease		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:g.14709C>T rs315952 (human)	PMID:12837270|REF_RGD_ID:6907105
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:783	end stage renal disease		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron:IVS6+327A>G rs452204 (human)	PMID:20551628|REF_RGD_ID:6907070
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:783	end stage renal disease		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:16556139|REF_RGD_ID:6907368
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:783	end stage renal disease	disease_progression	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)	PMID:17224277|REF_RGD_ID:6907131
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:783	end stage renal disease	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human)	PMID:16766392|REF_RGD_ID:6907370
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:784	chronic kidney disease		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (human)	PMID:23024164|REF_RGD_ID:6906880
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:784	chronic kidney disease	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human)	PMID:22795294|REF_RGD_ID:6906881
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:824	periodontitis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		mRNA:increased expression:gingiva	PMID:22795294|REF_RGD_ID:6906881
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:824	periodontitis	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic;DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)	PMID:22795294|REF_RGD_ID:6906881
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:8552	chronic myeloid leukemia	severity	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:7949186|REF_RGD_ID:10450889
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:8577	ulcerative colitis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)	PMID:8119534|REF_RGD_ID:6909136
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:874	bacterial pneumonia		ISO	RGD:733437	D	RGD:9068941	20200609	RGD			PMID:18322242|PMID:18596024|REF_RGD_ID:4143205|REF_RGD_ID:4143206
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:8924	autoimmune thrombocytopenic purpura	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:repeats::	PMID:20626741|REF_RGD_ID:11528541
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:8927	learning disability		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25665855
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:8927	learning disability		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		rat model treated with human protein	PMID:10751560|REF_RGD_ID:7175060
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:decreased expression:urine (human)	PMID:9090470|REF_RGD_ID:6909172
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:17964877|REF_RGD_ID:6907102
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:621159	D	RGD:9068941	20200609	RGD			PMID:16038625|REF_RGD_ID:1626673
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:8978354|REF_RGD_ID:8551835
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1344540	D	RGD:9068941	20220217	CTD		CTD Direct Evidence: marker/mechanism	
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9000325	Abscess	severity	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:8872492|REF_RGD_ID:8551794
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		rat model treated with human protein	PMID:22679224|REF_RGD_ID:7051590
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9000641	Pain		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15317861
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:14754758
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:14754758|REF_RGD_ID:4143217
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9000784	Fibrosis		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:7637259
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9000945	Ventilator-Induced Lung Injury		ISO	RGD:621159	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (rat)	PMID:22782699|REF_RGD_ID:6909178
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9000972	Fever		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16096327
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9000972	Fever		ISO	RGD:621159	D	RGD:9068941	20200609	RGD			PMID:16455768|REF_RGD_ID:1626671
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9000998	Brain Injuries		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25665855
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9001020	Eye Manifestations		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Behcet Syndrome;protein:increased expression:serum (human)	PMID:9152064|REF_RGD_ID:8549789
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9001039	Leukocytosis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Meningitis, Listeria;	PMID:10085034|REF_RGD_ID:11522759
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9001109	Anorexia		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25392278
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9001109	Anorexia		ISO	RGD:621159	D	RGD:9068941	20200609	RGD		associated with Adenocarcinoma;mRNA:increased expression:cerebral cortex, hypothalamus (rat)	PMID:9688694|REF_RGD_ID:8551744
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9001142	Drug-Induced Agranulocytosis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Leukemia;protein:decreased expression:serum:	PMID:8698137|REF_RGD_ID:11528539
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9001164	Proctocolitis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased concentration:serum (human)	PMID:9802632|REF_RGD_ID:6909134
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9001462	Meibomian Gland Dysfunction		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:tears (human)	PMID:20508732|REF_RGD_ID:8551707
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9001488	Human Influenza		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:9439800|REF_RGD_ID:4143228
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9001488	Human Influenza	disease_progression	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20840779|REF_RGD_ID:4143203
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9001831	Lichen Sclerosus et Atrophicus	severity	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)	PMID:7927338|REF_RGD_ID:6909135
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		rat model treated with human protein	PMID:9000676|REF_RGD_ID:6909138
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:621159	D	RGD:9068941	20200609	RGD			PMID:12451245|REF_RGD_ID:8551710
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002165	Diabetic Nephropathies	no_association	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)	PMID:17286233|REF_RGD_ID:6909120
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002165	Diabetic Nephropathies	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)	PMID:16174285|REF_RGD_ID:6907371
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15317861|PMID:17174526|PMID:20937348|PMID:8864563
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Arthritis, Experimental; rat model treated with human protein	PMID:22933159|REF_RGD_ID:6909175
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002211	Hyperalgesia		ISO	RGD:621159	D	RGD:9068941	20200609	RGD			PMID:23092240|REF_RGD_ID:6909165
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002211	Hyperalgesia	severity	ISO	RGD:621159	D	RGD:9068941	20200609	RGD			PMID:10903985|REF_RGD_ID:8549800
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:17959986|REF_RGD_ID:7401210
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma:	PMID:10870116|REF_RGD_ID:11522755
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16106254|PMID:16284379
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002311	Experimental Autoimmune Myocarditis	treatment	ISO	RGD:733437	D	RGD:9068941	20200609	RGD		mouse gene in a rat model	PMID:15795329|REF_RGD_ID:8551728
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		mouse model treated with human protein	PMID:23006786|REF_RGD_ID:6907376
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		rat model treated with human protein	PMID:15270736|REF_RGD_ID:1626677
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:621159	D	RGD:9068941	20200609	RGD		mRNA:increased expression:popliteal lymph node (rat)	PMID:10921508|REF_RGD_ID:8551741
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:733437	D	RGD:9068941	20200609	RGD			PMID:22267332|REF_RGD_ID:8549801
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		human gene in a rat model	PMID:12727108|REF_RGD_ID:8551745
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:621159	D	RGD:9068941	20200609	RGD		mRNA:increased expression:striatum (rat)	PMID:22707991|REF_RGD_ID:6997504
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002676	Cerebral Hemorrhage	treatment	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		human gene in a rat model	PMID:14753487|REF_RGD_ID:8551833
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:7593560|REF_RGD_ID:8551836
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002847	Serositis	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Lupus Erythematosus, Systemic; DNA:repeats, haplotype:intron:IVS2+914_1000dup IL1RN*2 (human)	PMID:17596285|REF_RGD_ID:5508454
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002906	Multiple Organ Failure		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:19241361|REF_RGD_ID:6907089
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002906	Multiple Organ Failure		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Wounds and Injuries;protein:increased expression:plasma	PMID:10670873|REF_RGD_ID:4143178
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18987561
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9003223	Corneal Graft Rejection		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		human gene in a rat model	PMID:23723965|REF_RGD_ID:9684950
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9003311	Urinary Calculi	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:repeats, haplotype:intron:IVS2+914_1000dup IL1RN*1, IL1RN*2 IL1RN*3 (human)	PMID:18186699|REF_RGD_ID:6907399
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9003871	Venous Thrombosis	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:haplotype::rs2232354(human)	PMID:17413037|REF_RGD_ID:11528540
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		cornea transplant; human protein in a mouse model	PMID:9175817|REF_RGD_ID:8549799
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9004462	Atrophy		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:7637259
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9004484	Sepsis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:8196140|REF_RGD_ID:6909139
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9004484	Sepsis		ISO	RGD:621159	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pituitary gland (rat)	PMID:10048466|REF_RGD_ID:7175061
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9004484	Sepsis		ISO	RGD:733437	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:20454520|REF_RGD_ID:4142852
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9004484	Sepsis	disease_progression	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:repeats: :	PMID:11876758|REF_RGD_ID:11528543
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9004484	Sepsis	severity	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:17014550|REF_RGD_ID:6907358
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9004484	Sepsis	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Premature Birth;DNA:polymorphism::	PMID:22882323|REF_RGD_ID:12910846
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27567548
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20644519
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		rat model treated with human gene-expressing stem cells	PMID:22844472|REF_RGD_ID:6909176
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:621159	D	RGD:9068941	20200609	RGD			PMID:8613550|REF_RGD_ID:4143193
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:621159	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:15970097|REF_RGD_ID:4143168
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9004960	Chronic Anterior Uveitis	severity	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:snp:exon:g.2018T>C (human)	PMID:17005410|REF_RGD_ID:8549792
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		human protein in a mouse model	PMID:21890879|REF_RGD_ID:6771361
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9005372	Inflammation		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25665855
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9005372	Inflammation		ISO	RGD:621159	D	RGD:9068941	20200609	RGD		associated with Hypersensitivity, Delayed;protein:increased expression:brain, plasma	PMID:15050649|REF_RGD_ID:1626679
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		human gene in a rat model	PMID:17221214|REF_RGD_ID:8551855
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:733437	D	RGD:9068941	20200609	RGD			PMID:19545727|PMID:8037760|REF_RGD_ID:6907397|REF_RGD_ID:6907425
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9005647	Experimental Autoimmune Uveitis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		human protein in mouse model	PMID:16009838|REF_RGD_ID:8549788
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9005749	Necrosis		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:1838896|PMID:20644519
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9005930	Endotoxemia		ISO	RGD:621159	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung, spleen, liver (rat)	PMID:1385928|REF_RGD_ID:8551846
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:8855299|REF_RGD_ID:11522760
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		human gene in rat model	PMID:12754378|REF_RGD_ID:2316108
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		mouse model treated with human protein	PMID:9555664|REF_RGD_ID:6909149
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		rat model treated with human protein	PMID:18363573|REF_RGD_ID:6907101
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:733437	D	RGD:9068941	20200609	RGD			PMID:16849996|REF_RGD_ID:6907359
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:23077050|REF_RGD_ID:8551854
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9006771	Chronic Rhinosinusitis	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:IVS2+914_1000dup I/II alleles (human)	PMID:16549749|REF_RGD_ID:8549791
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1344540	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:31557154
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9006890	Chronic Uveitis		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:aqueous humor (human)	PMID:10694897|REF_RGD_ID:8549804
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9006928	Viral Bronchiolitis	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:SNP: :c.390T>C (rs315952) (human)	PMID:19258923|REF_RGD_ID:4142862
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9006966	Pseudomonas Aeruginosa Keratitis		ISO	RGD:733437	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cornea (mouse)	PMID:9423885|REF_RGD_ID:8549805
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9006966	Pseudomonas Aeruginosa Keratitis	treatment	ISO	RGD:733437	D	RGD:9068941	20200609	RGD			PMID:11895986|REF_RGD_ID:7401195
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9007346	Cachexia		ISO	RGD:621159	D	RGD:9068941	20200609	RGD		associated with Inflammation	PMID:15005009|REF_RGD_ID:1626680
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9007417	Pseudomonas Infections		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis	PMID:8327288|REF_RGD_ID:4143202
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9007806	Drug Hypersensitivity Syndrome		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs2234663 (human)	PMID:23461376|REF_RGD_ID:11051970
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		rat model treated with human protein	PMID:22649318|REF_RGD_ID:7174360
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9007896	Sclerosis		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:7637259
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9007956	Febrile Seizures		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		rat model treated with human protein	PMID:16393156|REF_RGD_ID:1626672
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9008413	Oligoanuria		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Hemolytic-Uremic Syndrome; protein:increased expression:blood (human)	PMID:10603133|REF_RGD_ID:6909130
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9008464	Cryopyrin-Associated Periodic Syndromes		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD			PMID:16899778|REF_RGD_ID:8549803
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9008511	Extravasation of Diagnostic and Therapeutic Materials		ISO	RGD:1344540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7706905
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9008609	Endotoxin-Induced Uveitis		ISO	RGD:621159	D	RGD:9068941	20200609	RGD		mRNA:increased expression:uvea, retina (rat)	PMID:7928184|REF_RGD_ID:8551705
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9008609	Endotoxin-Induced Uveitis	susceptibility	ISO	RGD:733437	D	RGD:9068941	20200609	RGD			PMID:22267332|REF_RGD_ID:8549801
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:g.14709C>T rs315952 (human)	PMID:17176440|REF_RGD_ID:6907356
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (human)	PMID:20805419|REF_RGD_ID:6906963
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9352	type 2 diabetes mellitus	disease_progression	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		associated with Metabolic Syndrome X; DNA:snp:intron:IVS3+102A>G rs3213448 (human)	PMID:21205020|REF_RGD_ID:7175255
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)	PMID:8786086|REF_RGD_ID:6907412
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:IVS2+914_1000dup IL1RN*2, IL1RN*3 (human)	PMID:17069782|REF_RGD_ID:6907409
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9498	pulmonary eosinophilia		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:Bronchoalveolar lavage:	PMID:24706315|REF_RGD_ID:11528542
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9538	multiple myeloma		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:snp: :11100C>T (human)	PMID:17926179|REF_RGD_ID:11051973
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9538	multiple myeloma	no_association	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:	PMID:10848780|REF_RGD_ID:11522764
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9588	encephalitis		ISO	RGD:621159	D	RGD:9068941	20200609	RGD		protein:increased expression:right hippocampus, plasma (rat)	PMID:15020061|REF_RGD_ID:8551849
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		mouse model treated with human protein	PMID:9158104|REF_RGD_ID:6907407
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:9112337|REF_RGD_ID:6907403
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:986	alopecia areata	severity	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)	PMID:8077705|REF_RGD_ID:6909137
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9938	dacryocystitis	treatment	ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		human protein in a mouse model	PMID:24068863|REF_RGD_ID:8551706
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9970	obesity		ISO	RGD:1344540	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:adipose tissue	PMID:12716739|REF_RGD_ID:1626665
8763134	Il1rn	interleukin 1 receptor antagonist	gene	DOID:9970	obesity		ISO	RGD:733437	D	RGD:9068941	20200609	RGD			PMID:12975454|REF_RGD_ID:1626664
8763150	Uevld	UEV and lactate/malate dehyrogenase domains	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8763150	Uevld	UEV and lactate/malate dehyrogenase domains	gene	DOID:10534	stomach cancer		ISO	RGD:1605360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8763150	Uevld	UEV and lactate/malate dehyrogenase domains	gene	DOID:1115	sarcoma		ISO	RGD:1605360	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8763150	Uevld	UEV and lactate/malate dehyrogenase domains	gene	DOID:1324	lung cancer		ISO	RGD:1605360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8763150	Uevld	UEV and lactate/malate dehyrogenase domains	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8763150	Uevld	UEV and lactate/malate dehyrogenase domains	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8763150	Uevld	UEV and lactate/malate dehyrogenase domains	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8763150	Uevld	UEV and lactate/malate dehyrogenase domains	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8763150	Uevld	UEV and lactate/malate dehyrogenase domains	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8763150	Uevld	UEV and lactate/malate dehyrogenase domains	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8763150	Uevld	UEV and lactate/malate dehyrogenase domains	gene	DOID:9256	colorectal cancer		ISO	RGD:1605360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8763174	Psmc4	proteasome 26S subunit, ATPase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8763174	Psmc4	proteasome 26S subunit, ATPase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8763174	Psmc4	proteasome 26S subunit, ATPase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8763174	Psmc4	proteasome 26S subunit, ATPase 4	gene	DOID:1324	lung cancer		ISO	RGD:731556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8763174	Psmc4	proteasome 26S subunit, ATPase 4	gene	DOID:1909	melanoma		ISO	RGD:731556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8763174	Psmc4	proteasome 26S subunit, ATPase 4	gene	DOID:3275	thymoma		ISO	RGD:731556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8763174	Psmc4	proteasome 26S subunit, ATPase 4	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:731557	D	RGD:9068941	20220825	MouseDO			
8763174	Psmc4	proteasome 26S subunit, ATPase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8763174	Psmc4	proteasome 26S subunit, ATPase 4	gene	DOID:4362	cervical cancer		ISO	RGD:731556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8763174	Psmc4	proteasome 26S subunit, ATPase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:731556	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8763174	Psmc4	proteasome 26S subunit, ATPase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8763174	Psmc4	proteasome 26S subunit, ATPase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8763174	Psmc4	proteasome 26S subunit, ATPase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8763191	Actl7a	actin like 7A	gene	DOID:0070585	spermatogenic failure 86		ISO	RGD:1312292	D	RGD:7240710	20230906	OMIM			
8763191	Actl7a	actin like 7A	gene	DOID:0070585	spermatogenic failure 86		ISO	RGD:1312292	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 86 | ClinVar Annotator: match by term: Spermatogenic failure 86	PMID:25741868
8763191	Actl7a	actin like 7A	gene	DOID:12336	male infertility		ISO	RGD:1312292	D	RGD:9068941	20200609	RGD			PMID:26957350|REF_RGD_ID:13831339
8763191	Actl7a	actin like 7A	gene	DOID:4006	bladder urothelial carcinoma		ISO	RGD:1312292	D	RGD:9068941	20200609	RGD			PMID:29058301|REF_RGD_ID:13831338
8763200	Spats1	spermatogenesis associated serine rich 1	gene	DOID:1324	lung cancer		ISO	RGD:736705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8763200	Spats1	spermatogenesis associated serine rich 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8763200	Spats1	spermatogenesis associated serine rich 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736705	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8763213	Prr19	proline rich 19	gene	DOID:1324	lung cancer		ISO	RGD:1604489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8763230	Lss	lanosterol synthase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8763230	Lss	lanosterol synthase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8763230	Lss	lanosterol synthase	gene	DOID:0060058	lymphoma		ISO	RGD:736635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8763230	Lss	lanosterol synthase	gene	DOID:0080582	hypotrichosis 14		ISO	RGD:736635	D	RGD:7240710	20190315	OMIM			
8763230	Lss	lanosterol synthase	gene	DOID:0080582	hypotrichosis 14		ISO	RGD:736635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HYPOTRICHOSIS 14 | ClinVar Annotator: match by term: Hypotrichosis 14	PMID:25741868|PMID:28492532|PMID:30401459|PMID:30723320|PMID:32101538|PMID:33155697|PMID:35803560
8763230	Lss	lanosterol synthase	gene	DOID:0080950	alopecia-mental retardation syndrome 4		ISO	RGD:736635	D	RGD:7240710	20200429	OMIM			
8763230	Lss	lanosterol synthase	gene	DOID:0080950	alopecia-mental retardation syndrome 4		ISO	RGD:736635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4 | ClinVar Annotator: match by term: ALOPECIA-MENTAL RETARDATION SYNDROME 4 | ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 | ClinVar Annotator: match by term: Alopecia-mental retardation syndrome 4	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30401459|PMID:30723320|PMID:32101538|PMID:33155697|PMID:9536098
8763230	Lss	lanosterol synthase	gene	DOID:0110267	cataract 44		ISO	RGD:736635	D	RGD:7240710	20180130	OMIM			
8763230	Lss	lanosterol synthase	gene	DOID:0110267	cataract 44		ISO	RGD:736635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CATARACT 44 | ClinVar Annotator: match by term: Cataract 44	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29016354|PMID:31322293|PMID:32101538|PMID:33222230|PMID:35413293|PMID:9536098
8763230	Lss	lanosterol synthase	gene	DOID:10534	stomach cancer		ISO	RGD:736635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8763230	Lss	lanosterol synthase	gene	DOID:11100	Q fever		ISO	RGD:736635	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16469060
8763230	Lss	lanosterol synthase	gene	DOID:1115	sarcoma		ISO	RGD:736635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8763230	Lss	lanosterol synthase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8763230	Lss	lanosterol synthase	gene	DOID:3275	thymoma		ISO	RGD:736635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8763230	Lss	lanosterol synthase	gene	DOID:4362	cervical cancer		ISO	RGD:736635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8763230	Lss	lanosterol synthase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30723320|PMID:9536098
8763230	Lss	lanosterol synthase	gene	DOID:5041	esophageal cancer		ISO	RGD:736635	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8763230	Lss	lanosterol synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8763230	Lss	lanosterol synthase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8763230	Lss	lanosterol synthase	gene	DOID:630	genetic disease		ISO	RGD:736635	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:36251212
8763230	Lss	lanosterol synthase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8763230	Lss	lanosterol synthase	gene	DOID:83	cataract		ISO	RGD:733768	D	RGD:9068941	20260521	MouseDO		OMIM:601371	
8763230	Lss	lanosterol synthase	gene	DOID:83	cataract		ISO	RGD:736635	D	RGD:9068941	20260521	RGD		DNA:missense mutations:cds:p.W581R, p.G588S (human)	PMID:26200341|REF_RGD_ID:126925964
8763230	Lss	lanosterol synthase	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:733768	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:25168180|REF_RGD_ID:13782271
8763230	Lss	lanosterol synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8763230	Lss	lanosterol synthase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8763230	Lss	lanosterol synthase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8763230	Lss	lanosterol synthase	gene	DOID:9256	colorectal cancer		ISO	RGD:736635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8763230	Lss	lanosterol synthase	gene	DOID:9455	lipid storage disease		ISO	RGD:736635	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15342952|PMID:16919414
8763308	Ccz1	CCZ1 vacuolar protein trafficking and biogenesis associated	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8763308	Ccz1	CCZ1 vacuolar protein trafficking and biogenesis associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315007	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8763308	Ccz1	CCZ1 vacuolar protein trafficking and biogenesis associated	gene	DOID:0060058	lymphoma		ISO	RGD:1315007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8763308	Ccz1	CCZ1 vacuolar protein trafficking and biogenesis associated	gene	DOID:10534	stomach cancer		ISO	RGD:1315007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8763308	Ccz1	CCZ1 vacuolar protein trafficking and biogenesis associated	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8763308	Ccz1	CCZ1 vacuolar protein trafficking and biogenesis associated	gene	DOID:1115	sarcoma		ISO	RGD:1315007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8763308	Ccz1	CCZ1 vacuolar protein trafficking and biogenesis associated	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8763308	Ccz1	CCZ1 vacuolar protein trafficking and biogenesis associated	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8763308	Ccz1	CCZ1 vacuolar protein trafficking and biogenesis associated	gene	DOID:4362	cervical cancer		ISO	RGD:1315007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8763308	Ccz1	CCZ1 vacuolar protein trafficking and biogenesis associated	gene	DOID:5041	esophageal cancer		ISO	RGD:1315007	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8763308	Ccz1	CCZ1 vacuolar protein trafficking and biogenesis associated	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8763331	Sirt3	sirtuin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8763331	Sirt3	sirtuin 3	gene	DOID:0060611	abdominal obesity-metabolic syndrome		ISO	RGD:1318107	D	RGD:9068941	20220825	MouseDO			
8763331	Sirt3	sirtuin 3	gene	DOID:0070310	drug-induced hearing loss		ISO	RGD:1318106	D	RGD:9068941	20230803	CTD		CTD Direct Evidence: therapeutic	PMID:36800006
8763331	Sirt3	sirtuin 3	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:1308374	D	RGD:9068941	20200609	RGD		associated with Obesity	PMID:22327056|REF_RGD_ID:9586049
8763331	Sirt3	sirtuin 3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1318106	D	RGD:9068941	20200609	RGD		mRNA:increased expression:temporal cortex	PMID:23139766|REF_RGD_ID:9586045
8763331	Sirt3	sirtuin 3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1318107	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:23139766|REF_RGD_ID:9586045
8763331	Sirt3	sirtuin 3	gene	DOID:11714	gestational diabetes		ISO	RGD:1318106	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23956348
8763331	Sirt3	sirtuin 3	gene	DOID:11716	prediabetes syndrome		ISO	RGD:1308374	D	RGD:9068941	20200609	RGD		protein:decreased expression:testis	PMID:24361842|REF_RGD_ID:9586046
8763331	Sirt3	sirtuin 3	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1318106	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472714
8763331	Sirt3	sirtuin 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8763331	Sirt3	sirtuin 3	gene	DOID:3275	thymoma		ISO	RGD:1318106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8763331	Sirt3	sirtuin 3	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1318106	D	RGD:9068941	20260305	CTD		CTD Direct Evidence: marker/mechanism	PMID:40840615
8763331	Sirt3	sirtuin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8763331	Sirt3	sirtuin 3	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:1308374	D	RGD:9068941	20200609	RGD			PMID:24471974|REF_RGD_ID:9586050
8763331	Sirt3	sirtuin 3	gene	DOID:6000	congestive heart failure		ISO	RGD:1308374	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart left ventricle	PMID:22155497|REF_RGD_ID:9586040
8763331	Sirt3	sirtuin 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1318106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8763331	Sirt3	sirtuin 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8763331	Sirt3	sirtuin 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8763331	Sirt3	sirtuin 3	gene	DOID:9000307	Presbycusis		ISO	RGD:1308374	D	RGD:9068941	20200609	RGD		protein:decreased expression:auditory cortex:	PMID:24505357|REF_RGD_ID:8158103
8763331	Sirt3	sirtuin 3	gene	DOID:9002500	Hearing Disorders		ISO	RGD:1318106	D	RGD:9068941	20260507	CTD		CTD Direct Evidence: marker/mechanism	PMID:39945816
8763331	Sirt3	sirtuin 3	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1318106	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472714
8763331	Sirt3	sirtuin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8763331	Sirt3	sirtuin 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8763331	Sirt3	sirtuin 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1318106	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:pancreatic islet	PMID:23397292|REF_RGD_ID:9586042
8763331	Sirt3	sirtuin 3	gene	DOID:9970	obesity		ISO	RGD:1308374	D	RGD:9068941	20200609	RGD			PMID:21901160|REF_RGD_ID:9586047
8763331	Sirt3	sirtuin 3	gene	DOID:9970	obesity		ISO	RGD:1318106	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23956348
8763367	Gripap1	GRIP1 associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8763367	Gripap1	GRIP1 associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8763367	Gripap1	GRIP1 associated protein 1	gene	DOID:1115	sarcoma		ISO	RGD:732724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8763367	Gripap1	GRIP1 associated protein 1	gene	DOID:1826	epilepsy		ISO	RGD:732724	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8763367	Gripap1	GRIP1 associated protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8763367	Gripap1	GRIP1 associated protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8763367	Gripap1	GRIP1 associated protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8763367	Gripap1	GRIP1 associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8763367	Gripap1	GRIP1 associated protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8763367	Gripap1	GRIP1 associated protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:732724	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8763367	Gripap1	GRIP1 associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8763367	Gripap1	GRIP1 associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8763414	Lin54	lin-54 DREAM MuvB core complex component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8763414	Lin54	lin-54 DREAM MuvB core complex component	gene	DOID:10534	stomach cancer		ISO	RGD:1606970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8763414	Lin54	lin-54 DREAM MuvB core complex component	gene	DOID:4362	cervical cancer		ISO	RGD:1606970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8763414	Lin54	lin-54 DREAM MuvB core complex component	gene	DOID:5041	esophageal cancer		ISO	RGD:1606970	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8763414	Lin54	lin-54 DREAM MuvB core complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8763414	Lin54	lin-54 DREAM MuvB core complex component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8763414	Lin54	lin-54 DREAM MuvB core complex component	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8763435	Hmx1	H6 family homeobox 1	gene	DOID:0060482	oculoauricular syndrome		ISO	RGD:1312652	D	RGD:7240710	20180130	OMIM			
8763435	Hmx1	H6 family homeobox 1	gene	DOID:0060482	oculoauricular syndrome		ISO	RGD:1312652	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HMX1-related condition | ClinVar Annotator: match by term: OCULOAURICULAR SYNDROME | ClinVar Annotator: match by term: Oculoauricular syndrome	PMID:25741868|PMID:28492532
8763435	Hmx1	H6 family homeobox 1	gene	DOID:10629	microphthalmia		ISO	RGD:1312652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19379485
8763435	Hmx1	H6 family homeobox 1	gene	DOID:630	genetic disease		ISO	RGD:1312652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8763435	Hmx1	H6 family homeobox 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1312652	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
8763435	Hmx1	H6 family homeobox 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1312652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19379485
8763440	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:0050562	West syndrome		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868
8763440	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8763440	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8763440	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:10907	microcephaly		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8763440	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: attention deficit hyperactivity disorder	PMID:25741868|PMID:32738225|PMID:32788587|PMID:39415096
8763440	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:1909	melanoma		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8763440	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:3275	thymoma		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8763440	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8763440	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316312	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8763440	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8763440	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8763440	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8763440	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:9006331	Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities		ISO	RGD:1316312	D	RGD:7240710	20210120	OMIM			
8763440	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:9006331	Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities		ISO	RGD:1316312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | ClinVar Annotator: match by term: neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	PMID:25741868|PMID:32738225|PMID:32788587
8763440	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8763440	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8763440	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8763440	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:9008961	Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities		ISO	RGD:1316312	D	RGD:7240710	20201202	OMIM			
8763440	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:9008961	Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NARS1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	PMID:25741868|PMID:32738225|PMID:38495304
8763459	Ptpmt1	protein tyrosine phosphatase mitochondrial 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8763459	Ptpmt1	protein tyrosine phosphatase mitochondrial 1	gene	DOID:9009361	Neurodevelopmental disorder with ataxia and brain abnormalities		ISO	RGD:1605594	D	RGD:7240710	20250730	OMIM			
8763459	Ptpmt1	protein tyrosine phosphatase mitochondrial 1	gene	DOID:9009361	Neurodevelopmental disorder with ataxia and brain abnormalities		ISO	RGD:1605594	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH ATAXIA AND BRAIN ABNORMALITIES	
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:0050952	spastic ataxia		ISO	RGD:1346106	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:0060264	pontocerebellar hypoplasia		ISO	RGD:1346106	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Pontocerebellar hypoplasia	PMID:23911318|PMID:25741868|PMID:28492532|PMID:29463858|PMID:34826127
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:0060266	pontocerebellar hypoplasia type 1B		ISO	RGD:1346106	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia	PMID:23911318|PMID:25741868|PMID:28492532|PMID:29463858|PMID:34826127
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:0060278	pontocerebellar hypoplasia type 9		ISO	RGD:1346106	D	RGD:7240710	20180130	OMIM			
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:0060278	pontocerebellar hypoplasia type 9		ISO	RGD:1346106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AMPD2-related condition | ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 9 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 9	PMID:23911318|PMID:25741868|PMID:27066553|PMID:27159321|PMID:28168832|PMID:28492532|PMID:28815207|PMID:29463858|PMID:30239619|PMID:31130284|PMID:31833174|PMID:32214227|PMID:34732400|PMID:34826127|PMID:36445597|PMID:38397227
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:0110814	hereditary spastic paraplegia 63		ISO	RGD:1346106	D	RGD:7240710	20180130	OMIM			
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:0110814	hereditary spastic paraplegia 63		ISO	RGD:1346106	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 | ClinVar Annotator: match by term: Spastic paraplegia 63, autosomal recessive	PMID:16199547|PMID:17576681|PMID:23911318|PMID:25741868|PMID:27159321|PMID:28492532|PMID:29463858|PMID:31833174|PMID:34732400|PMID:36305856|PMID:9536098
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1346106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1346106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:10907	microcephaly		ISO	RGD:1346106	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:1115	sarcoma		ISO	RGD:1346106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:1324	lung cancer		ISO	RGD:1346106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1346106	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:28492532|PMID:28832565
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:3275	thymoma		ISO	RGD:1346106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1346106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1346106	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:630	genetic disease		ISO	RGD:1346106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29463858|PMID:34732400|PMID:9536098
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1346106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1346106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1346106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:34826127
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8763464	Ampd2	adenosine monophosphate deaminase 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25558065|PMID:25741868|PMID:28168832|PMID:28492532|PMID:32552793
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:10734064|PMID:12367584|PMID:12737938|PMID:12850494|PMID:1303173|PMID:14014720|PMID:16356170|PMID:18452027|PMID:1978554|PMID:21153663|PMID:21479984|PMID:21931771|PMID:22307442|PMID:22963789|PMID:23006493|PMID:23144702|PMID:2321910|PMID:25071003|PMID:25201310|PMID:2572288|PMID:25741868|PMID:26633385|PMID:26990548|PMID:27287612|PMID:27535533|PMID:27853304|PMID:27884173|PMID:28195434|PMID:2836867|PMID:28492532|PMID:28852037|PMID:29072585|PMID:29141760|PMID:30161219|PMID:30314477|PMID:31525211|PMID:32702756|PMID:33636823|PMID:3393536|PMID:33957359|PMID:3446582|PMID:35606495|PMID:38132231|PMID:4359638|PMID:4388132|PMID:5448|PMID:6015571|PMID:7949118|PMID:8611726|PMID:8956035|PMID:9858856
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:2645	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus	PMID:23693027|REF_RGD_ID:10449124
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:18066402|PMID:28492532
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:0050591	tooth agenesis		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypodontia	PMID:10192449|PMID:10916676|PMID:12215013|PMID:12497642|PMID:15315792|PMID:17524386|PMID:18568599|PMID:20621077|PMID:21507207|PMID:22293322|PMID:22906047|PMID:25741868|PMID:26829728|PMID:27880809|PMID:28492532|PMID:29300386|PMID:30077011|PMID:30097005|PMID:31863082|PMID:32425388|PMID:32906206|PMID:34620237|PMID:853376|PMID:8533762
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:0051003	congenital nonspherocytic hemolytic anemia 1		ISO	RGD:736474	D	RGD:7240710	20241225	OMIM			
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:0051003	congenital nonspherocytic hemolytic anemia 1		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 1 | ClinVar Annotator: match by term: G6PD-related disorder	PMID:10192449|PMID:10221015|PMID:10502785|PMID:10571945|PMID:10643148|PMID:10666231|PMID:10734064|PMID:10782016|PMID:10916676|PMID:11024211|PMID:11243133|PMID:11400791|PMID:11499668|PMID:11793482|PMID:12064901|PMID:12064920|PMID:12187030|PMID:12215013|PMID:12367584|PMID:12497642|PMID:12737938|PMID:12850494|PMID:1303173|PMID:1303182|PMID:14014720|PMID:1459579|PMID:15223006|PMID:15315792|PMID:15349799|PMID:1536798|PMID:15466166|PMID:1551674|PMID:1562739|PMID:15727905|PMID:15766741|PMID:15906717|PMID:15996881|PMID:16088936|PMID:1611091|PMID:16119988|PMID:16143877|PMID:16155737|PMID:16193512|PMID:16329560|PMID:16356170|PMID:16513531|PMID:16528451|PMID:16607506|PMID:16927025|PMID:16934959|PMID:17233850|PMID:17524386|PMID:17576681|PMID:17587269|PMID:17726510|PMID:17959407|PMID:18043863|PMID:18046504|PMID:1805484|PMID:18226470|PMID:18270558|PMID:18452027|PMID:18568599|PMID:19076170|PMID:19224086|PMID:19465117|PMID:1953767|PMID:1978554|PMID:1999409|PMID:20200584|PMID:20203002|PMID:20236109|PMID:20582980|PMID:20621077|PMID:20949590|PMID:21153663|PMID:21446359|PMID:21479984|PMID:21507207|PMID:2157298|PMID:21874587|PMID:2190319|PMID:21931771|PMID:21989994|PMID:22018328|PMID:22164279|PMID:22165289|PMID:22171972|PMID:2222408|PMID:22293322|PMID:22307442|PMID:2253938|PMID:2263506|PMID:22906047|PMID:22963789|PMID:23006493|PMID:2307454|PMID:23144702|PMID:2321910|PMID:23926329|PMID:2393028|PMID:23965028|PMID:24134566|PMID:2503817|PMID:25071003|PMID:25201310|PMID:25407525|PMID:25440321|PMID:25536053|PMID:25541721|PMID:2572288|PMID:25741868|PMID:25775246|PMID:2602358|PMID:26226515|PMID:26633385|PMID:26823837|PMID:26829728|PMID:26990548|PMID:27287612|PMID:27427187|PMID:27535533|PMID:27853304|PMID:27880809|PMID:27884173|PMID:28028996|PMID:28170391|PMID:28195434|PMID:2836867|PMID:28376293|PMID:28492532|PMID:28583873|PMID:28852037|PMID:29072585|PMID:29141760|PMID:29248304|PMID:29300386|PMID:29333274|PMID:29339739|PMID:29396846|PMID:30045279|PMID:30077011|PMID:30097005|PMID:30161219|PMID:30206300|PMID:30314477|PMID:30315739|PMID:30674319|PMID:31294066|PMID:31489982|PMID:31525211|PMID:31590661|PMID:31602632|PMID:31609781|PMID:31862010|PMID:31863082|PMID:3198117|PMID:3201886|PMID:32180910|PMID:32387609|PMID:32425388|PMID:32641076|PMID:32680472|PMID:32702756|PMID:32906206|PMID:32987391|PMID:33051526|PMID:33069889|PMID:33128437|PMID:33413378|PMID:33628497|PMID:33636823|PMID:3393536|PMID:33957359|PMID:3446582|PMID:34532700|PMID:34620237|PMID:34643346|PMID:34773909|PMID:34934109|PMID:35247950|PMID:35606495|PMID:35840819|PMID:36150187|PMID:36212142|PMID:36315991|PMID:36949502|PMID:37415281|PMID:38132231|PMID:38645242|PMID:39295190|PMID:4359638|PMID:4379606|PMID:4388132|PMID:4435794|PMID:4721339|PMID:5081671|PMID:5316621|PMID:5413384|PMID:5448|PMID:5673160|PMID:6015571|PMID:6714978|PMID:6714986|PMID:7129446|PMID:7160841|PMID:7327562|PMID:736032|PMID:7390473|PMID:7440223|PMID:7577654|PMID:7590755|PMID:7655862|PMID:7789945|PMID:7803800|PMID:7825590|PMID:7858267|PMID:7949118|PMID:7959686|PMID:8118045|PMID:8193373|PMID:8244337|PMID:8364584|PMID:8447319|PMID:8471773|PMID:848857|PMID:8490627|PMID:853376|PMID:8533762|PMID:8537082|PMID:8611726|PMID:8807322|PMID:8956035|PMID:9192788|PMID:9233561|PMID:9299858|PMID:9536098|PMID:9589612|PMID:9674740|PMID:9858856
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:2645	D	RGD:9068941	20200609	RGD			PMID:20211032|REF_RGD_ID:10449177
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:0111936	immunodeficiency 14		ISO	RGD:736474	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT	PMID:10734064|PMID:11852882|PMID:1303173|PMID:16356170|PMID:17018380|PMID:18677765|PMID:1924316|PMID:21153663|PMID:21479984|PMID:21931771|PMID:23006493|PMID:23057857|PMID:23144702|PMID:24033266|PMID:24505519|PMID:25201310|PMID:2572288|PMID:25741868|PMID:27040960|PMID:2836867|PMID:28492532|PMID:28756180|PMID:29300386|PMID:30045279|PMID:32387609|PMID:33636823|PMID:3393536|PMID:34620237|PMID:4359638|PMID:5448|PMID:5641629|PMID:6015571|PMID:7959686|PMID:8860013
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:736474	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Arylsulfatase A Deficiency	PMID:10502785|PMID:11793482|PMID:16329560|PMID:16607506|PMID:16927025|PMID:20203002|PMID:25541721|PMID:25741868|PMID:28492532|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30315739|PMID:31489982|PMID:34659341|PMID:36681081|PMID:8364584|PMID:8471773
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:1059	intellectual disability		ISO	RGD:736474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Profound intellectual disability	PMID:11499668|PMID:12028056|PMID:12497642|PMID:14505231|PMID:15223006|PMID:15315792|PMID:15625830|PMID:16329560|PMID:16927025|PMID:20602793|PMID:21507207|PMID:21677401|PMID:22293322|PMID:22452742|PMID:22906837|PMID:24134566|PMID:24551785|PMID:2503817|PMID:25548459|PMID:25741868|PMID:25775246|PMID:26060661|PMID:27980749|PMID:28492532|PMID:2849540|PMID:29300386|PMID:31862010|PMID:31863082|PMID:32425388|PMID:33100726|PMID:33636823|PMID:3393536|PMID:34620237|PMID:7803800|PMID:7959686|PMID:8193373|PMID:8244337|PMID:9017974|PMID:9250351
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:1059	intellectual disability		ISO	RGD:736474	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability, severe	PMID:11499668|PMID:12497642|PMID:14505231|PMID:15223006|PMID:15315792|PMID:15625830|PMID:16329560|PMID:16927025|PMID:20602793|PMID:21507207|PMID:21677401|PMID:22293322|PMID:22452742|PMID:22906837|PMID:24134566|PMID:24551785|PMID:25548459|PMID:25741868|PMID:25775246|PMID:26060661|PMID:27980749|PMID:28492532|PMID:2849540|PMID:29300386|PMID:31862010|PMID:31863082|PMID:32425388|PMID:33100726|PMID:33636823|PMID:3393536|PMID:34620237|PMID:7803800|PMID:7959686|PMID:8193373|PMID:8244337|PMID:9017974|PMID:9250351
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:11830	myopia		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:10734064|PMID:12367584|PMID:12737938|PMID:12850494|PMID:1303173|PMID:14014720|PMID:16356170|PMID:18452027|PMID:1978554|PMID:21153663|PMID:21479984|PMID:21931771|PMID:22307442|PMID:22963789|PMID:23006493|PMID:23144702|PMID:2321910|PMID:25071003|PMID:25201310|PMID:2572288|PMID:25741868|PMID:26633385|PMID:26990548|PMID:27287612|PMID:27535533|PMID:27853304|PMID:27884173|PMID:28195434|PMID:2836867|PMID:28492532|PMID:28852037|PMID:29072585|PMID:29141760|PMID:30161219|PMID:30314477|PMID:31525211|PMID:32702756|PMID:33636823|PMID:3393536|PMID:33957359|PMID:3446582|PMID:35606495|PMID:38132231|PMID:4359638|PMID:4388132|PMID:5448|PMID:6015571|PMID:7949118|PMID:8611726|PMID:8956035|PMID:9858856
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:1205	allergic disease		ISO	RGD:736474	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:1303182|PMID:15315792|PMID:15996881|PMID:16528451|PMID:18046504|PMID:22293322|PMID:25741868|PMID:27535533|PMID:27880809|PMID:28492532|PMID:28583873|PMID:29300386|PMID:30097005|PMID:31609781|PMID:32425388|PMID:33069889|PMID:5673160|PMID:6714978
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:12176	goiter		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:10734064|PMID:12367584|PMID:12737938|PMID:12850494|PMID:1303173|PMID:14014720|PMID:16356170|PMID:18452027|PMID:1978554|PMID:21153663|PMID:21479984|PMID:21931771|PMID:22307442|PMID:22963789|PMID:23006493|PMID:23144702|PMID:2321910|PMID:25071003|PMID:25201310|PMID:2572288|PMID:25741868|PMID:26633385|PMID:26990548|PMID:27287612|PMID:27535533|PMID:27853304|PMID:27884173|PMID:28195434|PMID:2836867|PMID:28492532|PMID:28852037|PMID:29072585|PMID:29141760|PMID:30161219|PMID:30314477|PMID:31525211|PMID:32702756|PMID:33636823|PMID:3393536|PMID:33957359|PMID:3446582|PMID:35606495|PMID:38132231|PMID:4359638|PMID:4388132|PMID:5448|PMID:6015571|PMID:7949118|PMID:8611726|PMID:8956035|PMID:9858856
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:12365	malaria		ISO	RGD:736474	D	RGD:7240710	20230505	OMIM			
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:12365	malaria		ISO	RGD:736474	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Malaria, susceptibility to	PMID:10734064|PMID:10782016|PMID:11445808|PMID:11499668|PMID:11793482|PMID:12028056|PMID:12064920|PMID:12367584|PMID:12497642|PMID:12737938|PMID:12768444|PMID:1303173|PMID:14278484|PMID:14505231|PMID:15223006|PMID:15315792|PMID:15349799|PMID:15502081|PMID:1551674|PMID:15625830|PMID:1562739|PMID:15766741|PMID:15906717|PMID:16119988|PMID:16136268|PMID:16155737|PMID:1631957|PMID:16356170|PMID:16528451|PMID:16777444|PMID:16927025|PMID:17726510|PMID:17959407|PMID:18046504|PMID:1805484|PMID:18329300|PMID:1924316|PMID:1953767|PMID:19589177|PMID:19594365|PMID:1972698|PMID:1978554|PMID:1978555|PMID:20007901|PMID:20236109|PMID:20602793|PMID:21446359|PMID:21479984|PMID:21677401|PMID:21931771|PMID:21989994|PMID:22018328|PMID:22165289|PMID:22293322|PMID:22307442|PMID:22906047|PMID:23144702|PMID:2321910|PMID:23479361|PMID:23926329|PMID:23965028|PMID:24033266|PMID:24460025|PMID:24551785|PMID:24586352|PMID:2503817|PMID:25201310|PMID:25326637|PMID:25548459|PMID:2572288|PMID:25741868|PMID:25775246|PMID:26060661|PMID:26226515|PMID:2633878|PMID:26633385|PMID:26990548|PMID:27053284|PMID:27213370|PMID:27287612|PMID:27535533|PMID:27853304|PMID:27880809|PMID:27884173|PMID:27980749|PMID:28195434|PMID:2836867|PMID:28492532|PMID:2849540|PMID:29072585|PMID:2912069|PMID:29141760|PMID:29339739|PMID:30161219|PMID:30315739|PMID:31525211|PMID:32860008|PMID:33051526|PMID:3338798|PMID:33413378|PMID:3393536|PMID:3446582|PMID:4359638|PMID:4388132|PMID:4435794|PMID:4837298|PMID:4974311|PMID:5305539|PMID:5369703|PMID:5448|PMID:5770172|PMID:6015571|PMID:6698555|PMID:7203486|PMID:7327562|PMID:7390473|PMID:7803800|PMID:7806085|PMID:7947239|PMID:7947250|PMID:7949118|PMID:8118045|PMID:8611726|PMID:8807321|PMID:8860013|PMID:8956035|PMID:9192788|PMID:9342374|PMID:9589612|PMID:9858856
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:12365	malaria		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: G6PD-related disorder | ClinVar Annotator: match by term: Malaria, susceptibility to	PMID:10192449|PMID:10502785|PMID:10571945|PMID:10643148|PMID:10734064|PMID:10916676|PMID:11024211|PMID:11243133|PMID:11400791|PMID:11499668|PMID:11793482|PMID:12064920|PMID:12187030|PMID:12215013|PMID:12367584|PMID:12497642|PMID:12737938|PMID:12850494|PMID:1303173|PMID:1303182|PMID:14014720|PMID:1459579|PMID:15223006|PMID:15315792|PMID:15349799|PMID:1551674|PMID:1562739|PMID:15727905|PMID:15766741|PMID:15906717|PMID:15996881|PMID:1611091|PMID:16119988|PMID:16155737|PMID:16193512|PMID:16329560|PMID:16356170|PMID:16513531|PMID:16528451|PMID:16607506|PMID:16927025|PMID:17233850|PMID:17524386|PMID:17576681|PMID:17587269|PMID:17726510|PMID:17959407|PMID:18043863|PMID:18046504|PMID:18226470|PMID:18270558|PMID:18452027|PMID:18568599|PMID:19076170|PMID:1953767|PMID:1978554|PMID:20200584|PMID:20203002|PMID:20236109|PMID:20582980|PMID:20621077|PMID:21153663|PMID:21446359|PMID:21479984|PMID:21507207|PMID:21874587|PMID:21931771|PMID:21989994|PMID:22018328|PMID:22164279|PMID:22165289|PMID:22171972|PMID:22293322|PMID:22307442|PMID:2253938|PMID:2263506|PMID:22906047|PMID:22963789|PMID:23006493|PMID:2307454|PMID:23144702|PMID:2321910|PMID:23926329|PMID:23965028|PMID:24134566|PMID:2503817|PMID:25071003|PMID:25201310|PMID:25440321|PMID:25536053|PMID:25541721|PMID:2572288|PMID:25741868|PMID:25775246|PMID:2602358|PMID:26226515|PMID:26633385|PMID:26823837|PMID:26829728|PMID:26990548|PMID:27287612|PMID:27427187|PMID:27535533|PMID:27853304|PMID:27880809|PMID:27884173|PMID:28028996|PMID:28170391|PMID:28195434|PMID:2836867|PMID:28376293|PMID:28492532|PMID:28583873|PMID:28852037|PMID:29072585|PMID:29141760|PMID:29248304|PMID:29300386|PMID:29333274|PMID:29339739|PMID:29396846|PMID:30045279|PMID:30077011|PMID:30097005|PMID:30161219|PMID:30314477|PMID:30315739|PMID:30674319|PMID:31294066|PMID:31489982|PMID:31525211|PMID:31609781|PMID:31862010|PMID:31863082|PMID:3198117|PMID:3201886|PMID:32180910|PMID:32425388|PMID:32641076|PMID:32702756|PMID:32906206|PMID:32987391|PMID:33051526|PMID:33069889|PMID:33128437|PMID:33413378|PMID:33628497|PMID:33636823|PMID:3393536|PMID:33957359|PMID:3446582|PMID:34620237|PMID:34934109|PMID:35247950|PMID:35606495|PMID:35840819|PMID:36150187|PMID:36212142|PMID:36315991|PMID:36949502|PMID:37415281|PMID:38132231|PMID:38645242|PMID:4359638|PMID:4379606|PMID:4388132|PMID:4435794|PMID:4721339|PMID:5081671|PMID:5316621|PMID:5448|PMID:5673160|PMID:6015571|PMID:6714978|PMID:6714986|PMID:7327562|PMID:736032|PMID:7390473|PMID:7440223|PMID:7577654|PMID:7590755|PMID:7789945|PMID:7803800|PMID:7825590|PMID:7858267|PMID:7949118|PMID:7959686|PMID:8118045|PMID:8193373|PMID:8244337|PMID:8364584|PMID:8447319|PMID:8471773|PMID:8490627|PMID:853376|PMID:8533762|PMID:8537082|PMID:8611726|PMID:8807322|PMID:8956035|PMID:9192788|PMID:9299858|PMID:9332310|PMID:9536098|PMID:9589612|PMID:9674740|PMID:9858856
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:12365	malaria	severity	ISO	RGD:736474	D	RGD:9068941	20200609	RGD		DNA:point mutation:cds:c.968T>C (human)	PMID:24615128|REF_RGD_ID:10449115
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:12365	malaria	susceptibility	ISO	RGD:736474	D	RGD:9068941	20230506	RGD		DNA:SNPs: :multiple	PMID:25015414|REF_RGD_ID:10449111
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:12849	autistic disorder		ISO	RGD:736474	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism	PMID:11499668|PMID:11793482|PMID:12497642|PMID:15349799|PMID:15727905|PMID:16329560|PMID:16513531|PMID:16607506|PMID:17959407|PMID:18046504|PMID:21989994|PMID:22165289|PMID:22171972|PMID:23926329|PMID:23965028|PMID:2503817|PMID:25536053|PMID:25541721|PMID:25741868|PMID:26226515|PMID:27880809|PMID:28170391|PMID:28492532|PMID:29300386|PMID:30045279|PMID:30674319|PMID:31489982|PMID:31863082|PMID:32425388|PMID:35247950|PMID:35840819|PMID:37415281|PMID:4435794|PMID:4721339|PMID:5081671|PMID:8118045|PMID:8244337|PMID:8364584
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:13413	hepatic encephalopathy		ISO	RGD:2645	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebellum	PMID:20405262|REF_RGD_ID:10449131
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:13580	cholestasis		ISO	RGD:2645	D	RGD:9068941	20200609	RGD			PMID:18802767|REF_RGD_ID:2307352
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:13628	favism		ISO	RGD:736474	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Favism, susceptibility to | ClinVar Annotator: match by term: G6PD A- | ClinVar Annotator: match by term: G6PD MALAGA | ClinVar Annotator: match by term: G6PD MINNESOTA | ClinVar Annotator: match by term: G6PD SANTIAGO | ClinVar Annotator: match by term: G6PD SANTIAGO DE CUBA | ClinVar Annotator: match by term: G6PD SERRES	PMID:31602632|PMID:31609781|PMID:31833391|PMID:31862010|PMID:31863082|PMID:3198117|PMID:3201886|PMID:32156605|PMID:32180910|PMID:32387441|PMID:32387609|PMID:32425388|PMID:32641076|PMID:32680472|PMID:32702756|PMID:32860008|PMID:32987391|PMID:33051526|PMID:33069889|PMID:33072997|PMID:33128437|PMID:3338798|PMID:33413378|PMID:33536406|PMID:33628497|PMID:33636823|PMID:33637102|PMID:33708821|PMID:3393536|PMID:34007417|PMID:34134107|PMID:34272389|PMID:3446582|PMID:34532700|PMID:34551338|PMID:34620237|PMID:34643346|PMID:34659341|PMID:34762759|PMID:34895177|PMID:34934109|PMID:34966093|PMID:34989400|PMID:35313968|PMID:35384376|PMID:35606495|PMID:3565372|PMID:35695473|PMID:35753512|PMID:35840819|PMID:35845714|PMID:3591235|PMID:36089067|PMID:36150187|PMID:36212124|PMID:36212142|PMID:36315991|PMID:36353116|PMID:36681081|PMID:36703223|PMID:36704359|PMID:36949502|PMID:3740052|PMID:38066190|PMID:38308253|PMID:38645242|PMID:38970298|PMID:4154774|PMID:4283789|PMID:4359638|PMID:4379606|PMID:4388132|PMID:4392654|PMID:4435794|PMID:4721339|PMID:4837298|PMID:4838696|PMID:4974311|PMID:5081671|PMID:511159|PMID:5305539|PMID:5316621|PMID:5369703|PMID:5413384|PMID:5448|PMID:5485383|PMID:5641629|PMID:5673160|PMID:5770172|PMID:5775246|PMID:5779160|PMID:5844610|PMID:6015571|PMID:6344088|PMID:6500558|PMID:6698555|PMID:6714978|PMID:6714986|PMID:6805883|PMID:7055648|PMID:7129446|PMID:7160841|PMID:7203486|PMID:7211845|PMID:7327562|PMID:736032|PMID:7390473|PMID:7440223|PMID:7577654|PMID:7590755|PMID:7655862|PMID:7789945|PMID:7803800|PMID:7806085|PMID:7825590|PMID:7849299|PMID:7858267|PMID:7870632|PMID:7947239|PMID:7947250|PMID:7949118|PMID:7959686|PMID:7959695|PMID:8118045|PMID:8141125|PMID:8193373|PMID:8241497|PMID:8244337|PMID:835572|PMID:8364584|PMID:8370579|PMID:8436389|PMID:8447319|PMID:8471773|PMID:8477268|PMID:848857|PMID:8490627|PMID:853376|PMID:8533762|PMID:8537082|PMID:8611726|PMID:8807085|PMID:8807321|PMID:8807322|PMID:8813094|PMID:8956035|PMID:9017974|PMID:9192788|PMID:9233561|PMID:9250351|PMID:9290617|PMID:9298828|PMID:9299858|PMID:9332310|PMID:9342374|PMID:9384614|PMID:9410474|PMID:9444913|PMID:9536098|PMID:9589612|PMID:9674740|PMID:9858856
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:13628	favism		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anemia, Nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Favism, susceptibility to | ClinVar Annotator: match by term: G6PD A- | ClinVar Annotator: match by term: G6PD MINNESOTA | ClinVar Annotator: match by term: G6PD SANTIAGO | ClinVar Annotator: match by term: G6PD SERRES | ClinVar Annotator: match by term: anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: favism	PMID:1008056|PMID:10192449|PMID:10221015|PMID:10502785|PMID:10556177|PMID:10571945|PMID:10643148|PMID:10666231|PMID:10734064|PMID:10782016|PMID:10916676|PMID:11024211|PMID:11042039|PMID:11112389|PMID:11243133|PMID:11271380|PMID:11295127|PMID:11400791|PMID:11484161|PMID:11499668|PMID:11594515|PMID:11780463|PMID:11793482|PMID:11852882|PMID:12064901|PMID:12064902|PMID:12064920|PMID:12105841|PMID:12130518|PMID:12187030|PMID:12215013|PMID:12367584|PMID:12497642|PMID:12737938|PMID:12737940|PMID:12768444|PMID:12850494|PMID:1303173|PMID:1303182|PMID:14014720|PMID:1459579|PMID:14757424|PMID:14757426|PMID:15065213|PMID:15223006|PMID:15315792|PMID:15349799|PMID:1536798|PMID:15466166|PMID:15502081|PMID:1551674|PMID:15625830|PMID:1562739|PMID:15727905|PMID:15766741|PMID:15906717|PMID:15996881|PMID:16079115|PMID:16088936|PMID:1611091|PMID:16119988|PMID:16143877|PMID:16155737|PMID:16193512|PMID:16329560|PMID:16356170|PMID:16461316|PMID:16513531|PMID:16528451|PMID:16607506|PMID:16927025|PMID:16934959|PMID:17018380|PMID:17233850|PMID:1733837|PMID:17524386|PMID:17576681|PMID:17587269|PMID:17726510|PMID:17877203|PMID:17959407|PMID:18043863|PMID:18046504|PMID:1805484|PMID:18056001|PMID:18066402|PMID:18177777|PMID:18226470|PMID:18270558|PMID:18452027|PMID:18568599|PMID:18677765|PMID:19076170|PMID:19224086|PMID:1924316|PMID:19422023|PMID:19465117|PMID:1953767|PMID:19589177|PMID:19594365|PMID:19632868|PMID:1978554|PMID:1978555|PMID:1999409|PMID:20052779|PMID:20085579|PMID:20200584|PMID:20203002|PMID:20236109|PMID:20582980|PMID:20602793|PMID:20621077|PMID:20713184|PMID:20949590|PMID:21063220|PMID:21153663|PMID:21302115|PMID:21397531|PMID:21446359|PMID:21479984|PMID:21507207|PMID:2157298|PMID:21637675|PMID:21677401|PMID:21874587|PMID:2190319|PMID:21931771|PMID:21989994|PMID:22018328|PMID:22139979|PMID:22164279|PMID:22165289|PMID:22171972|PMID:2222408|PMID:22237549|PMID:22293322|PMID:22307442|PMID:22452742|PMID:2253938|PMID:22552160|PMID:2263506|PMID:22770933|PMID:22906047|PMID:22906837|PMID:22963789|PMID:22963798|PMID:23006493|PMID:23057857|PMID:2307454|PMID:23144702|PMID:2321910|PMID:23365477|PMID:23389243|PMID:23479361|PMID:23926329|PMID:2393028|PMID:23965028|PMID:24022758|PMID:24117340|PMID:24134566|PMID:24460025|PMID:24505519|PMID:24586352|PMID:24711023|PMID:25015414|PMID:2503817|PMID:25071003|PMID:25141282|PMID:25189226|PMID:25201310|PMID:25326637|PMID:25407525|PMID:25440321|PMID:25536053|PMID:25541721|PMID:25548459|PMID:2572288|PMID:25741868|PMID:25775246|PMID:25915902|PMID:25925739|PMID:2602358|PMID:2606066|PMID:26226515|PMID:2633878|PMID:26479991|PMID:26633385|PMID:26693676|PMID:26823837|PMID:26827633|PMID:26829728|PMID:26990548|PMID:27040960|PMID:27213370|PMID:27282571|PMID:27287612|PMID:27413522|PMID:27427187|PMID:27495838|PMID:27519946|PMID:27535533|PMID:27853304|PMID:27880809|PMID:27884173|PMID:27914961|PMID:27941691|PMID:27980749|PMID:28028996|PMID:28059001|PMID:28067620|PMID:28170391|PMID:28195434|PMID:28356147|PMID:2836867|PMID:28376293|PMID:28492532|PMID:28512736|PMID:28583873|PMID:28756180|PMID:28824188|PMID:28852037|PMID:29072585|PMID:2912069|PMID:2912886|PMID:29138396|PMID:29141760|PMID:29248304|PMID:29262208|PMID:29298156|PMID:29300386|PMID:29333274|PMID:29339739|PMID:29396846|PMID:29493437|PMID:29850382|PMID:30045279|PMID:30077011|PMID:30096395|PMID:30097005|PMID:30161219|PMID:30206300|PMID:30314477|PMID:30315739|PMID:30674319|PMID:30988594|PMID:31061745|PMID:31294066|PMID:31489982|PMID:31525211|PMID:31590661|PMID:31602632|PMID:31609781|PMID:31862010|PMID:31863082|PMID:3198117|PMID:3201886|PMID:32156605|PMID:32180910|PMID:32387441|PMID:32387609|PMID:32425388|PMID:32448501|PMID:32641076|PMID:32680472|PMID:32702756|PMID:32906206|PMID:32987391|PMID:33051526|PMID:33069889|PMID:33072997|PMID:33128437|PMID:33413378|PMID:33536406|PMID:33628497|PMID:33636823|PMID:33637102|PMID:33708821|PMID:3393536|PMID:33957359|PMID:34134107|PMID:34272389|PMID:3446582|PMID:34532700|PMID:34533603|PMID:34551338|PMID:34620237|PMID:34643346|PMID:34773909
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:13628	favism		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anemia, Nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Favism, susceptibility to | ClinVar Annotator: match by term: G6PD A- | ClinVar Annotator: match by term: G6PD MINNESOTA | ClinVar Annotator: match by term: G6PD SANTIAGO | ClinVar Annotator: match by term: G6PD SERRES | ClinVar Annotator: match by term: anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: favism	PMID:34934109|PMID:34966093|PMID:35065072|PMID:35247950|PMID:35306802|PMID:35606495|PMID:3565372|PMID:35695473|PMID:35753512|PMID:35840819|PMID:35845714|PMID:3591235|PMID:36089067|PMID:36150187|PMID:36212124|PMID:36212142|PMID:36315991|PMID:36353116|PMID:36681081|PMID:36703223|PMID:36704359|PMID:36949502|PMID:37415281|PMID:38066190|PMID:38132231|PMID:38308253|PMID:38645242|PMID:38970298|PMID:39295190|PMID:4359638|PMID:4379606|PMID:4388132|PMID:4435794|PMID:4721339|PMID:4838696|PMID:5081671|PMID:511159|PMID:5316621|PMID:5369703|PMID:5413384|PMID:5448|PMID:5641629|PMID:5673160|PMID:5775246|PMID:5779160|PMID:6015571|PMID:6500558|PMID:6698555|PMID:6714978|PMID:6714986|PMID:7129446|PMID:7160841|PMID:7211845|PMID:7327562|PMID:736032|PMID:7390473|PMID:7440223|PMID:7577654|PMID:7590755|PMID:7655862|PMID:7789945|PMID:7803800|PMID:7825590|PMID:7849299|PMID:7858267|PMID:7949118|PMID:7959686|PMID:7959695|PMID:8118045|PMID:8193373|PMID:8244337|PMID:835572|PMID:8364584|PMID:8370579|PMID:8447319|PMID:8471773|PMID:8477268|PMID:848857|PMID:8490627|PMID:853376|PMID:8533762|PMID:8537082|PMID:8611726|PMID:8807085|PMID:8807322|PMID:8808605|PMID:8813094|PMID:8956035|PMID:9017974|PMID:9192788|PMID:9233561|PMID:9250351|PMID:9290617|PMID:9298828|PMID:9299858|PMID:9332310|PMID:9342374|PMID:9410474|PMID:9444913|PMID:9536098|PMID:9589612|PMID:9674740|PMID:9858856
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:13714	anodontia		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypodontia	PMID:10192449|PMID:10916676|PMID:12215013|PMID:12497642|PMID:15315792|PMID:17524386|PMID:18568599|PMID:20621077|PMID:21507207|PMID:22293322|PMID:22906047|PMID:25741868|PMID:26829728|PMID:27880809|PMID:28492532|PMID:29300386|PMID:30077011|PMID:30097005|PMID:31863082|PMID:32425388|PMID:32906206|PMID:34620237|PMID:853376|PMID:8533762
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:14067	Plasmodium falciparum malaria	severity	ISO	RGD:736474	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:202G>A (p.V68M) (human)	PMID:24943486|REF_RGD_ID:10449113
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:1558	angioedema		ISO	RGD:736474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angioedema	PMID:27408423|PMID:29300386
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:1591	renovascular hypertension	treatment	ISO	RGD:2645	D	RGD:9068941	20200609	RGD			PMID:22684021|REF_RGD_ID:10449172
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:1826	epilepsy		ISO	RGD:736474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11499668|PMID:12028056|PMID:12497642|PMID:14505231|PMID:15223006|PMID:15315792|PMID:15625830|PMID:16329560|PMID:16927025|PMID:20602793|PMID:21507207|PMID:21677401|PMID:22293322|PMID:22452742|PMID:22906837|PMID:24134566|PMID:24551785|PMID:2503817|PMID:25548459|PMID:25741868|PMID:25775246|PMID:26060661|PMID:27980749|PMID:28492532|PMID:2849540|PMID:29300386|PMID:31862010|PMID:31863082|PMID:32425388|PMID:33100726|PMID:33636823|PMID:3393536|PMID:34620237|PMID:7803800|PMID:7959686|PMID:8193373|PMID:8244337|PMID:9017974|PMID:9250351
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:1969	cerebral palsy		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Athetoid cerebral palsy	PMID:10502785|PMID:11793482|PMID:12064920|PMID:12215013|PMID:12497642|PMID:1459579|PMID:15223006|PMID:15727905|PMID:15766741|PMID:15906717|PMID:16329560|PMID:16513531|PMID:16607506|PMID:16927025|PMID:17726510|PMID:18046504|PMID:19076170|PMID:1953767|PMID:20200584|PMID:20236109|PMID:21446359|PMID:25741868|PMID:28376293|PMID:28492532|PMID:29300386|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31862010|PMID:31863082|PMID:3198117|PMID:32180910|PMID:33051526|PMID:34934109|PMID:35840819|PMID:36949502|PMID:4721339|PMID:7327562|PMID:7390473|PMID:7590755|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9192788|PMID:9589612
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:224	transient cerebral ischemia		ISO	RGD:2645	D	RGD:9068941	20200609	RGD			PMID:22580330|REF_RGD_ID:10449127
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:2355	anemia		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:10192449|PMID:10916676|PMID:12215013|PMID:12497642|PMID:15315792|PMID:17524386|PMID:18568599|PMID:20621077|PMID:21507207|PMID:22293322|PMID:22906047|PMID:25741868|PMID:26829728|PMID:27880809|PMID:28492532|PMID:29300386|PMID:30077011|PMID:30097005|PMID:31863082|PMID:32425388|PMID:32906206|PMID:34620237|PMID:853376|PMID:8533762
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:2355	anemia	treatment	ISO	RGD:736474	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic	PMID:25261071|REF_RGD_ID:10449108
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:2383	neonatal jaundice		ISO	RGD:736474	D	RGD:9068941	20200609	RGD		DNA:point mutation: :563C>T (human)	PMID:24460025|REF_RGD_ID:10449116
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:10502785|PMID:11793482|PMID:12064920|PMID:12215013|PMID:12497642|PMID:1459579|PMID:15223006|PMID:15727905|PMID:15766741|PMID:15906717|PMID:16329560|PMID:16513531|PMID:16607506|PMID:16927025|PMID:17726510|PMID:18046504|PMID:19076170|PMID:1953767|PMID:20200584|PMID:20236109|PMID:21446359|PMID:25741868|PMID:28376293|PMID:28492532|PMID:29300386|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31862010|PMID:31863082|PMID:3198117|PMID:32180910|PMID:33051526|PMID:34934109|PMID:35840819|PMID:36949502|PMID:4721339|PMID:7327562|PMID:7390473|PMID:7590755|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9192788|PMID:9589612
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:2773	contact dermatitis		ISO	RGD:736474	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:2861	congenital nonspherocytic hemolytic anemia		ISO	RGD:736474	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital nonspherocytic hemolytic anemia	PMID:1303182|PMID:15315792|PMID:15996881|PMID:16528451|PMID:18046504|PMID:22293322|PMID:25741868|PMID:27535533|PMID:27880809|PMID:28492532|PMID:28583873|PMID:29300386|PMID:30097005|PMID:31609781|PMID:32425388|PMID:33069889|PMID:5673160|PMID:6714978
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:2862	glucosephosphate dehydrogenase deficiency		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: G6PD deficiency | ClinVar Annotator: match by term: Hemolytic anemia due to G6PD deficiency	PMID:10192449|PMID:10221015|PMID:10502785|PMID:10571945|PMID:10643148|PMID:10666231|PMID:10734064|PMID:10782016|PMID:10916676|PMID:11024211|PMID:11146567|PMID:11243133|PMID:11400791|PMID:11499668|PMID:11793482|PMID:12064901|PMID:12064920|PMID:12187030|PMID:12215013|PMID:12367584|PMID:12497642|PMID:12737938|PMID:12850494|PMID:1303173|PMID:1303182|PMID:14014720|PMID:1459579|PMID:15223006|PMID:15315792|PMID:15349799|PMID:1536798|PMID:15466166|PMID:1551674|PMID:1562739|PMID:15727905|PMID:15766741|PMID:15906717|PMID:15996881|PMID:16088936|PMID:1611091|PMID:16119988|PMID:16136268|PMID:16143877|PMID:16155737|PMID:16193512|PMID:16225031|PMID:16329560|PMID:16356170|PMID:16513531|PMID:16528451|PMID:16607506|PMID:16777444|PMID:16927025|PMID:16934959|PMID:17233850|PMID:17524386|PMID:17576681|PMID:17587269|PMID:17726510|PMID:17959407|PMID:18043863|PMID:18046504|PMID:1805484|PMID:18177777|PMID:18226470|PMID:1823863|PMID:18270558|PMID:18329300|PMID:18452027|PMID:18568599|PMID:19076170|PMID:19224086|PMID:19246566|PMID:19465117|PMID:1953767|PMID:19589177|PMID:1978554|PMID:1999409|PMID:20200584|PMID:20203002|PMID:20236109|PMID:20582980|PMID:20621077|PMID:20949590|PMID:21153663|PMID:21446359|PMID:21479984|PMID:21507207|PMID:2157298|PMID:21637675|PMID:21874587|PMID:2190319|PMID:21931771|PMID:21989994|PMID:22018328|PMID:22164279|PMID:22165289|PMID:22171972|PMID:2222408|PMID:22293322|PMID:22307442|PMID:2253938|PMID:2263506|PMID:22906047|PMID:22963789|PMID:23006493|PMID:2307454|PMID:23144702|PMID:2321910|PMID:23926329|PMID:2393028|PMID:23965028|PMID:24033266|PMID:24134566|PMID:2503817|PMID:25071003|PMID:25201310|PMID:25407525|PMID:25440321|PMID:25536053|PMID:25541721|PMID:2572288|PMID:25741868|PMID:25775246|PMID:2602358|PMID:26226515|PMID:2633878|PMID:26633385|PMID:26823837|PMID:26829728|PMID:26990548|PMID:27040960|PMID:27053284|PMID:27213370|PMID:27287612|PMID:27427187|PMID:27535533|PMID:27853304|PMID:27880809|PMID:27884173|PMID:28028996|PMID:28170391|PMID:28195434|PMID:2836867|PMID:28376293|PMID:28492532|PMID:28583873|PMID:28852037|PMID:28902532|PMID:29072585|PMID:2912069|PMID:29141760|PMID:29248304|PMID:29262208|PMID:29298156|PMID:29300386|PMID:29333274|PMID:29339739|PMID:30045279|PMID:30077011|PMID:30096395|PMID:30097005|PMID:30161219|PMID:30206300|PMID:30314477|PMID:30315739|PMID:30674319|PMID:31294066|PMID:31489982|PMID:31525211|PMID:31590661|PMID:31602632|PMID:31609781|PMID:31681265|PMID:31862010|PMID:31863082|PMID:3198117|PMID:3201886|PMID:32180910|PMID:32387609|PMID:32425388|PMID:32641076|PMID:32680472|PMID:32702756|PMID:32906206|PMID:32987391|PMID:33051526|PMID:33069889|PMID:33072997|PMID:33128437|PMID:3338798|PMID:33413378|PMID:33628497|PMID:33636823|PMID:3393536|PMID:33957359|PMID:3446582|PMID:34532700|PMID:34620237|PMID:34643346|PMID:34773909|PMID:34934109|PMID:35247950|PMID:35606495|PMID:35840819|PMID:36150187|PMID:36212142|PMID:36315991|PMID:36419023|PMID:36829893|PMID:36949502|PMID:37415281|PMID:38132231|PMID:38645242|PMID:39295190|PMID:4359638|PMID:4379606|PMID:4388132|PMID:4435794|PMID:4721339|PMID:5081671|PMID:5305539|PMID:5316621|PMID:5413384|PMID:5448|PMID:5673160|PMID:5844610|PMID:6015571|PMID:6714978|PMID:6714986|PMID:7129446|PMID:7160841|PMID:7327562|PMID:736032|PMID:7390473|PMID:7440223|PMID:7577654|PMID:7590755|PMID:7655862|PMID:7705842|PMID:7789945|PMID:7803800|PMID:7806085|PMID:7825590|PMID:7858267|PMID:7947239|PMID:7947250|PMID:7949118|PMID:7959686|PMID:8118045|PMID:8193373|PMID:8244337|PMID:8364584|PMID:8447319|PMID:8471773|PMID:848857|PMID:8490627|PMID:853376|PMID:8533762|PMID:8537082|PMID:8611726|PMID:8807321|PMID:8807322|PMID:8808605|PMID:8956035|PMID:9192788|PMID:9233561|PMID:9299858|PMID:9536098|PMID:9589612|PMID:9674740|PMID:9858856
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:3021	acute kidney failure		ISO	RGD:736474	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:4794122|PMID:602954|PMID:734759
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:3262	phagocyte bactericidal dysfunction		ISO	RGD:736474	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:4125296
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:3265	chronic granulomatous disease		ISO	RGD:736474	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:4125296
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:480	movement disease		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:10502785|PMID:11793482|PMID:12064920|PMID:12215013|PMID:12497642|PMID:1459579|PMID:15223006|PMID:15727905|PMID:15766741|PMID:15906717|PMID:16329560|PMID:16513531|PMID:16607506|PMID:16927025|PMID:17726510|PMID:18046504|PMID:19076170|PMID:1953767|PMID:20200584|PMID:20236109|PMID:21446359|PMID:25741868|PMID:28376293|PMID:28492532|PMID:29300386|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31862010|PMID:31863082|PMID:3198117|PMID:32180910|PMID:33051526|PMID:34934109|PMID:35840819|PMID:36949502|PMID:4721339|PMID:7327562|PMID:7390473|PMID:7590755|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9192788|PMID:9589612
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:543	dystonia		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:10221015|PMID:10502785|PMID:11793482|PMID:12064920|PMID:12215013|PMID:12497642|PMID:1459579|PMID:15223006|PMID:15727905|PMID:15766741|PMID:15906717|PMID:16088936|PMID:16329560|PMID:16513531|PMID:16607506|PMID:16927025|PMID:17726510|PMID:18046504|PMID:19076170|PMID:1953767|PMID:20200584|PMID:20236109|PMID:21446359|PMID:22293322|PMID:2393028|PMID:25741868|PMID:26823837|PMID:28376293|PMID:28492532|PMID:29300386|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31862010|PMID:31863082|PMID:3198117|PMID:32180910|PMID:33051526|PMID:34934109|PMID:35840819|PMID:36949502|PMID:4721339|PMID:7327562|PMID:7390473|PMID:7590755|PMID:7803800|PMID:8193373|PMID:8244337|PMID:8471773|PMID:9192788|PMID:9589612
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:557	kidney disease	treatment	ISO	RGD:2645	D	RGD:9068941	20200609	RGD			PMID:22549094|REF_RGD_ID:10449175
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:583	hemolytic anemia		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia	PMID:10192449|PMID:10916676|PMID:12064901|PMID:12215013|PMID:12497642|PMID:15315792|PMID:17524386|PMID:18568599|PMID:20621077|PMID:21507207|PMID:22293322|PMID:22906047|PMID:25741868|PMID:26829728|PMID:27880809|PMID:28492532|PMID:29300386|PMID:30077011|PMID:30097005|PMID:31863082|PMID:32425388|PMID:32906206|PMID:34620237|PMID:853376|PMID:8533762
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:2645	D	RGD:9068941	20200609	RGD			PMID:20462747|REF_RGD_ID:10449173
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:630	genetic disease		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10502785|PMID:10734064|PMID:11793482|PMID:12064920|PMID:12215013|PMID:12367584|PMID:12497642|PMID:12737938|PMID:12850494|PMID:1303173|PMID:14014720|PMID:1459579|PMID:15223006|PMID:15727905|PMID:15766741|PMID:15906717|PMID:16329560|PMID:16356170|PMID:16513531|PMID:16607506|PMID:16927025|PMID:17726510|PMID:18046504|PMID:18452027|PMID:19076170|PMID:1953767|PMID:1978554|PMID:20200584|PMID:20236109|PMID:21153663|PMID:21446359|PMID:21479984|PMID:21931771|PMID:22307442|PMID:22963789|PMID:23006493|PMID:23144702|PMID:2321910|PMID:25071003|PMID:25201310|PMID:2572288|PMID:25741868|PMID:26633385|PMID:26990548|PMID:27287612|PMID:27535533|PMID:27853304|PMID:27884173|PMID:28195434|PMID:2836867|PMID:28376293|PMID:28492532|PMID:28852037|PMID:29072585|PMID:29141760|PMID:29300386|PMID:30045279|PMID:30161219|PMID:30314477|PMID:30315739|PMID:31489982|PMID:31525211|PMID:31862010|PMID:31863082|PMID:3198117|PMID:32180910|PMID:32702756|PMID:33051526|PMID:33636823|PMID:3393536|PMID:33957359|PMID:3446582|PMID:34934109|PMID:35606495|PMID:35840819|PMID:36949502|PMID:38132231|PMID:4359638|PMID:4388132|PMID:4721339|PMID:5448|PMID:6015571|PMID:7327562|PMID:7390473|PMID:7590755|PMID:7803800|PMID:7949118|PMID:8244337|PMID:8471773|PMID:8611726|PMID:8956035|PMID:9192788|PMID:9589612|PMID:9858856
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:6713	cerebrovascular disease		ISO	RGD:736474	D	RGD:9068941	20200609	RGD		associated with Anemia, Sickle Cell	PMID:26072930|REF_RGD_ID:10449106
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2645	D	RGD:9068941	20200609	RGD			PMID:25473368|REF_RGD_ID:10449118
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:736474	D	RGD:9068941	20220901	RGD		mRNA:increased expression:liver (human)	PMID:35693827|REF_RGD_ID:153344586
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:720	normocytic anemia		ISO	RGD:736474	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Normocytic anemia	PMID:10571945|PMID:1536798|PMID:16934959|PMID:19224086|PMID:19465117|PMID:1999409|PMID:25407525|PMID:25741868|PMID:28492532|PMID:29300386|PMID:31294066|PMID:32425388|PMID:7655862|PMID:7858267|PMID:9674740
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:7998	hyperthyroidism		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:10734064|PMID:12367584|PMID:12737938|PMID:12850494|PMID:1303173|PMID:14014720|PMID:16356170|PMID:18452027|PMID:1978554|PMID:21153663|PMID:21479984|PMID:21931771|PMID:22307442|PMID:22963789|PMID:23006493|PMID:23144702|PMID:2321910|PMID:25071003|PMID:25201310|PMID:2572288|PMID:25741868|PMID:26633385|PMID:26990548|PMID:27287612|PMID:27535533|PMID:27853304|PMID:27884173|PMID:28195434|PMID:2836867|PMID:28492532|PMID:28852037|PMID:29072585|PMID:29141760|PMID:30161219|PMID:30314477|PMID:31525211|PMID:32702756|PMID:33636823|PMID:3393536|PMID:33957359|PMID:3446582|PMID:35606495|PMID:38132231|PMID:4359638|PMID:4388132|PMID:5448|PMID:6015571|PMID:7949118|PMID:8611726|PMID:8956035|PMID:9858856
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:83	cataract	treatment	ISO	RGD:2645	D	RGD:9068941	20200609	RGD			PMID:24886740|REF_RGD_ID:10449123
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:10502785|PMID:11793482|PMID:12064920|PMID:12215013|PMID:12497642|PMID:1459579|PMID:15223006|PMID:15727905|PMID:15766741|PMID:15906717|PMID:16329560|PMID:16513531|PMID:16607506|PMID:16927025|PMID:17726510|PMID:18046504|PMID:19076170|PMID:1953767|PMID:20200584|PMID:20236109|PMID:21446359|PMID:25741868|PMID:28376293|PMID:28492532|PMID:29300386|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31862010|PMID:31863082|PMID:3198117|PMID:32180910|PMID:33051526|PMID:34934109|PMID:35840819|PMID:36949502|PMID:4721339|PMID:7327562|PMID:7390473|PMID:7590755|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9192788|PMID:9589612
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9000582	Reticulocytosis		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Reticulocytosis	PMID:10192449|PMID:10916676|PMID:12215013|PMID:12497642|PMID:15315792|PMID:17524386|PMID:18568599|PMID:20621077|PMID:21507207|PMID:22293322|PMID:22906047|PMID:25741868|PMID:26829728|PMID:27880809|PMID:28492532|PMID:29300386|PMID:30077011|PMID:30097005|PMID:31863082|PMID:32425388|PMID:32906206|PMID:34620237|PMID:853376|PMID:8533762
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9000808	Hypercholesterolemia	treatment	ISO	RGD:2645	D	RGD:9068941	20200609	RGD			PMID:21966115|REF_RGD_ID:10449170
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9000972	Fever		ISO	RGD:736474	D	RGD:9068941	20200609	RGD		associated with Malaria, Falciparum;DNA:SNP: :rs1050829 (human)	PMID:24934404|REF_RGD_ID:10449114
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9000998	Brain Injuries		ISO	RGD:2645	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus	PMID:18501200|REF_RGD_ID:2307353
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:10502785|PMID:11793482|PMID:12064920|PMID:12215013|PMID:12497642|PMID:1459579|PMID:15223006|PMID:15727905|PMID:15766741|PMID:15906717|PMID:16329560|PMID:16513531|PMID:16607506|PMID:16927025|PMID:17726510|PMID:18046504|PMID:19076170|PMID:1953767|PMID:20200584|PMID:20236109|PMID:21446359|PMID:25741868|PMID:28376293|PMID:28492532|PMID:29300386|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31862010|PMID:31863082|PMID:3198117|PMID:32180910|PMID:33051526|PMID:34934109|PMID:35840819|PMID:36949502|PMID:4721339|PMID:7327562|PMID:7390473|PMID:7590755|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9192788|PMID:9589612
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9001722	Dysarthria		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:10502785|PMID:11793482|PMID:12064920|PMID:12215013|PMID:12497642|PMID:1459579|PMID:15223006|PMID:15727905|PMID:15766741|PMID:15906717|PMID:16329560|PMID:16513531|PMID:16607506|PMID:16927025|PMID:17726510|PMID:18046504|PMID:19076170|PMID:1953767|PMID:20200584|PMID:20236109|PMID:21446359|PMID:25741868|PMID:28376293|PMID:28492532|PMID:29300386|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31862010|PMID:31863082|PMID:3198117|PMID:32180910|PMID:33051526|PMID:34934109|PMID:35840819|PMID:36949502|PMID:4721339|PMID:7327562|PMID:7390473|PMID:7590755|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9192788|PMID:9589612
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:2645	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:21987533|REF_RGD_ID:10449128
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9002532	Neonatal Hyperbilirubinemia		ISO	RGD:736474	D	RGD:9068941	20200609	RGD		protein:decreased activity:blood	PMID:25092943|REF_RGD_ID:10449110
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9002720	Splenomegaly		ISO	RGD:736474	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:12187030|PMID:1611091|PMID:25741868|PMID:2602358|PMID:28028996|PMID:28492532|PMID:29248304|PMID:29300386|PMID:31294066|PMID:32387609|PMID:7129446|PMID:7858267|PMID:8193373|PMID:9674740
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9003603	Hemolysis		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: G6PD GIFU	PMID:10502785|PMID:10643148|PMID:11024211|PMID:11499668|PMID:11793482|PMID:12497642|PMID:1562739|PMID:15727905|PMID:16329560|PMID:16607506|PMID:17587269|PMID:17726510|PMID:20203002|PMID:21446359|PMID:21874587|PMID:22164279|PMID:22171972|PMID:2263506|PMID:22963789|PMID:25440321|PMID:25541721|PMID:25741868|PMID:25775246|PMID:26823837|PMID:28492532|PMID:29300386|PMID:29339739|PMID:30045279|PMID:31489982|PMID:31862010|PMID:31863082|PMID:32987391|PMID:33636823|PMID:35840819|PMID:36315991|PMID:4379606|PMID:4435794|PMID:4721339|PMID:6714986|PMID:7440223|PMID:7590755|PMID:7803800|PMID:8244337|PMID:8447319|PMID:8471773|PMID:8537082|PMID:9299858|PMID:9589612
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9004538	Hearing Loss		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:10192449|PMID:10221015|PMID:10916676|PMID:12215013|PMID:12497642|PMID:15315792|PMID:16088936|PMID:16607506|PMID:17524386|PMID:18568599|PMID:20621077|PMID:21507207|PMID:22293322|PMID:22906047|PMID:2393028|PMID:25741868|PMID:26823837|PMID:26829728|PMID:27880809|PMID:28492532|PMID:29300386|PMID:30077011|PMID:30097005|PMID:31489982|PMID:31863082|PMID:32425388|PMID:32906206|PMID:34620237|PMID:8193373|PMID:853376|PMID:8533762
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9004898	Jaundice		ISO	RGD:736474	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:10571945|PMID:1536798|PMID:16934959|PMID:19224086|PMID:19465117|PMID:1999409|PMID:25407525|PMID:25741868|PMID:28492532|PMID:29300386|PMID:31294066|PMID:32425388|PMID:7655862|PMID:7858267|PMID:9674740
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9005181	Multi-Infarct Dementia	treatment	ISO	RGD:2645	D	RGD:9068941	20200609	RGD			PMID:21279683|REF_RGD_ID:10449132
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9005369	Hepatomegaly		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:10192449|PMID:10916676|PMID:12215013|PMID:12497642|PMID:15315792|PMID:17524386|PMID:18568599|PMID:20621077|PMID:21507207|PMID:22293322|PMID:22906047|PMID:25741868|PMID:26829728|PMID:27880809|PMID:28492532|PMID:29300386|PMID:30077011|PMID:30097005|PMID:31863082|PMID:32425388|PMID:32906206|PMID:34620237|PMID:853376|PMID:8533762
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9005563	Glomerulopathy with Giant Fibrillar Deposits		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2	PMID:10734064|PMID:12367584|PMID:12737938|PMID:12850494|PMID:1303173|PMID:14014720|PMID:16356170|PMID:18452027|PMID:1978554|PMID:21153663|PMID:21479984|PMID:21931771|PMID:22307442|PMID:22963789|PMID:23006493|PMID:23144702|PMID:2321910|PMID:25071003|PMID:25201310|PMID:2572288|PMID:25741868|PMID:26633385|PMID:26990548|PMID:27287612|PMID:27535533|PMID:27853304|PMID:27884173|PMID:28195434|PMID:2836867|PMID:28492532|PMID:28852037|PMID:29072585|PMID:29141760|PMID:30161219|PMID:30314477|PMID:31525211|PMID:32702756|PMID:33636823|PMID:3393536|PMID:33957359|PMID:3446582|PMID:35606495|PMID:38132231|PMID:4359638|PMID:4388132|PMID:5448|PMID:6015571|PMID:7949118|PMID:8611726|PMID:8956035|PMID:9858856
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:10502785|PMID:11793482|PMID:12064920|PMID:12215013|PMID:12497642|PMID:1459579|PMID:15223006|PMID:15727905|PMID:15766741|PMID:15906717|PMID:16329560|PMID:16513531|PMID:16607506|PMID:16927025|PMID:17726510|PMID:18046504|PMID:19076170|PMID:1953767|PMID:20200584|PMID:20236109|PMID:21446359|PMID:25741868|PMID:28376293|PMID:28492532|PMID:29300386|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31862010|PMID:31863082|PMID:3198117|PMID:32180910|PMID:33051526|PMID:34934109|PMID:35840819|PMID:36949502|PMID:4721339|PMID:7327562|PMID:7390473|PMID:7590755|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9192788|PMID:9589612
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2645	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:19374864|REF_RGD_ID:2307337
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2645	D	RGD:9068941	20200609	RGD		protein:increased expression:lens	PMID:16718375|REF_RGD_ID:2307345
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2645	D	RGD:9068941	20200609	RGD			PMID:25116122|REF_RGD_ID:10449121
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced	treatment	ISO	RGD:2645	D	RGD:9068941	20200609	RGD			PMID:25063801|REF_RGD_ID:10449119
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:2645	D	RGD:9068941	20241116	RGD			PMID:17250641|REF_RGD_ID:2307361
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9006411	Testicular Injury	treatment	ISO	RGD:2645	D	RGD:9068941	20200609	RGD			PMID:25446862|REF_RGD_ID:10401887
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9006599	Hypertriglyceridemia	treatment	ISO	RGD:2645	D	RGD:9068941	20200609	RGD			PMID:22947172|REF_RGD_ID:10449176
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:2645	D	RGD:9068941	20200609	RGD			PMID:19374165|REF_RGD_ID:2307350
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9006646	Metabolic Syndrome	treatment	ISO	RGD:2645	D	RGD:9068941	20200609	RGD			PMID:24868532|REF_RGD_ID:10449117
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9006693	ALAD-Deficiency Porphyria		ISO	RGD:2645	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:23390166|REF_RGD_ID:10449130
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:11243133|PMID:11400791|PMID:15727905|PMID:16329560|PMID:16607506|PMID:25536053|PMID:25741868|PMID:25775246|PMID:28492532|PMID:29300386|PMID:30045279|PMID:30077011|PMID:31489982|PMID:31863082|PMID:35840819|PMID:8471773|PMID:9589612
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9007114	Mobility Limitation		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:10502785|PMID:11793482|PMID:12064920|PMID:12215013|PMID:12497642|PMID:1459579|PMID:15223006|PMID:15727905|PMID:15766741|PMID:15906717|PMID:16329560|PMID:16513531|PMID:16607506|PMID:16927025|PMID:17726510|PMID:18046504|PMID:19076170|PMID:1953767|PMID:20200584|PMID:20236109|PMID:21446359|PMID:25741868|PMID:28376293|PMID:28492532|PMID:29300386|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31862010|PMID:31863082|PMID:3198117|PMID:32180910|PMID:33051526|PMID:34934109|PMID:35840819|PMID:36949502|PMID:4721339|PMID:7327562|PMID:7390473|PMID:7590755|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9192788|PMID:9589612
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:2645	D	RGD:9068941	20200609	RGD			PMID:21864513|REF_RGD_ID:10449168
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:10502785|PMID:11793482|PMID:12064920|PMID:12215013|PMID:12497642|PMID:1459579|PMID:15223006|PMID:15727905|PMID:15766741|PMID:15906717|PMID:16329560|PMID:16513531|PMID:16607506|PMID:16927025|PMID:17726510|PMID:18046504|PMID:19076170|PMID:1953767|PMID:20200584|PMID:20236109|PMID:21446359|PMID:25741868|PMID:28376293|PMID:28492532|PMID:29300386|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31862010|PMID:31863082|PMID:3198117|PMID:32180910|PMID:33051526|PMID:34934109|PMID:35840819|PMID:36949502|PMID:4721339|PMID:7327562|PMID:7390473|PMID:7590755|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9192788|PMID:9589612
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9007692	Insulin Resistance		ISO	RGD:2645	D	RGD:9068941	20200609	RGD		associated with Obesity;protein:increased expression:pancreas	PMID:23015612|REF_RGD_ID:10449129
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9007923	Back Pain		ISO	RGD:736474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Back pain	PMID:10772881|PMID:11261779|PMID:1270075|PMID:15858258|PMID:1999409|PMID:27408423|PMID:29300386
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10192449|PMID:10221015|PMID:10916676|PMID:12215013|PMID:12497642|PMID:15315792|PMID:16088936|PMID:16607506|PMID:17524386|PMID:18568599|PMID:20621077|PMID:21507207|PMID:22293322|PMID:22906047|PMID:2393028|PMID:25741868|PMID:26823837|PMID:26829728|PMID:27880809|PMID:28492532|PMID:29300386|PMID:30077011|PMID:30097005|PMID:31489982|PMID:31863082|PMID:32425388|PMID:32906206|PMID:34620237|PMID:8193373|PMID:853376|PMID:8533762
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9008675	Dyskinesias		ISO	RGD:736474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:10502785|PMID:11793482|PMID:12064920|PMID:12215013|PMID:12497642|PMID:1459579|PMID:15223006|PMID:15727905|PMID:15766741|PMID:15906717|PMID:16329560|PMID:16513531|PMID:16607506|PMID:16927025|PMID:17726510|PMID:18046504|PMID:19076170|PMID:1953767|PMID:20200584|PMID:20236109|PMID:21446359|PMID:25741868|PMID:28376293|PMID:28492532|PMID:29300386|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31862010|PMID:31863082|PMID:3198117|PMID:32180910|PMID:33051526|PMID:34934109|PMID:35840819|PMID:36949502|PMID:4721339|PMID:7327562|PMID:7390473|PMID:7590755|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9192788|PMID:9589612
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9008691	Liver Injury	treatment	ISO	RGD:2645	D	RGD:9068941	20200609	RGD			PMID:20950607|REF_RGD_ID:10449174
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:11243133|PMID:11400791|PMID:15727905|PMID:16329560|PMID:16607506|PMID:25536053|PMID:25741868|PMID:25775246|PMID:28492532|PMID:29300386|PMID:30045279|PMID:30077011|PMID:31489982|PMID:31863082|PMID:35840819|PMID:8471773|PMID:9589612
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:2645	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung	PMID:21717134|REF_RGD_ID:10449171
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9281	phenylketonuria		ISO	RGD:2645	D	RGD:9068941	20200609	RGD			PMID:24488205|REF_RGD_ID:10449120
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9351	diabetes mellitus		ISO	RGD:736474	D	RGD:9068941	20200609	RGD		protein:decreased activity:blood	PMID:24865682|REF_RGD_ID:10449112
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736474	D	RGD:9068941	20200609	RGD		protein:decreased expression:reticulocyte, erythrocyte	PMID:12853069|REF_RGD_ID:2307349
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:736474	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:1303182|PMID:15315792|PMID:15996881|PMID:16528451|PMID:18046504|PMID:22293322|PMID:25741868|PMID:27535533|PMID:27880809|PMID:28492532|PMID:28583873|PMID:29300386|PMID:30097005|PMID:31609781|PMID:32425388|PMID:33069889|PMID:5673160|PMID:6714978
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9970	obesity		ISO	RGD:10608	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:white fat	PMID:15923630|REF_RGD_ID:2307347
8763485	G6pd	glucose-6-phosphate dehydrogenase	gene	DOID:9970	obesity		ISO	RGD:2645	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:liver	PMID:19230846|REF_RGD_ID:2307340
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:0080379	nephrotic syndrome type 2		ISO	RGD:1347433	D	RGD:9068941	20200609	RGD		DNA:missense mutations, SNPs:exon, intron:multiple	PMID:21511817|REF_RGD_ID:7247446
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:0111129	focal segmental glomerulosclerosis 2		ISO	RGD:1347433	D	RGD:7240710	20180130	OMIM			
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:0111129	focal segmental glomerulosclerosis 2		ISO	RGD:1347433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 2 | ClinVar Annotator: match by term: TRPC6-related condition	PMID:15879175|PMID:15924139|PMID:19124028|PMID:19129465|PMID:21734084|PMID:23291369|PMID:23645677|PMID:23663351|PMID:23689571|PMID:25019165|PMID:25741868|PMID:26046366|PMID:26147534|PMID:26467025|PMID:26892346|PMID:28117080|PMID:28204945|PMID:28492532|PMID:28580132|PMID:28921387|PMID:29127259|PMID:30295827|PMID:30655312|PMID:31266820|PMID:31576025|PMID:31936014|PMID:31937884|PMID:32509715|PMID:33532864|PMID:33657698|PMID:33884742|PMID:34746741|PMID:35655039|PMID:37615749|PMID:38338714|PMID:40388293
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:1115	sarcoma		ISO	RGD:1347433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1347433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:25741868
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1347433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:25741868|PMID:28492532|PMID:32581362
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:1312	focal segmental glomerulosclerosis	treatment	ISO	RGD:1347433	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:p.P15S (human)	PMID:22980509|REF_RGD_ID:7247444
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:1312	focal segmental glomerulosclerosis	treatment	ISO	RGD:619788	D	RGD:9068941	20200609	RGD			PMID:21839714|PMID:23385000|REF_RGD_ID:7247440|REF_RGD_ID:7247445
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:1324	lung cancer		ISO	RGD:1347433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:150	disease of mental health		ISO	RGD:1347433	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21059368
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:224	transient cerebral ischemia		ISO	RGD:732721	D	RGD:9068941	20200609	RGD			PMID:23043486|REF_RGD_ID:7247583
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:619788	D	RGD:9068941	20200609	RGD			PMID:20811149|PMID:23435869|REF_RGD_ID:7247582|REF_RGD_ID:7247585
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:4362	cervical cancer		ISO	RGD:1347433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:557	kidney disease		ISO	RGD:1347433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:25741868
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:557	kidney disease	treatment	ISO	RGD:619788	D	RGD:9068941	20200609	RGD			PMID:23535151|REF_RGD_ID:7247439
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:576	proteinuria		ISO	RGD:619788	D	RGD:9068941	20230128	RGD		mRNA:increased expression:glomerular podocytes (rat)	PMID:31784544|REF_RGD_ID:155882534
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:576	proteinuria		ISO	RGD:736283	D	RGD:9068941	20200609	RGD			PMID:23385000|REF_RGD_ID:7247440
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:630	genetic disease		ISO	RGD:1347433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1347433	D	RGD:9068941	20200609	RGD			PMID:15358862|REF_RGD_ID:1580490
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:8544	chronic fatigue syndrome		ISO	RGD:1347433	D	RGD:9068941	20201203	RGD		DNA:SNPs: :	PMID:27834303|REF_RGD_ID:40886272
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:9000040	Hypertrophy		ISO	RGD:1347433	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20177073
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:9000784	Fibrosis		ISO	RGD:1347433	D	RGD:9068941	20250904	CTD		CTD Direct Evidence: marker/mechanism	PMID:39226116
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:9001542	Albuminuria		ISO	RGD:1347433	D	RGD:9068941	20250904	CTD		CTD Direct Evidence: marker/mechanism	PMID:39226116
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:9001542	Albuminuria		ISO	RGD:1557692	D	RGD:9068941	20200609	RGD			PMID:21839714|REF_RGD_ID:7247445
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:9001542	Albuminuria		ISO	RGD:619788	D	RGD:9068941	20200609	RGD		associated with Hypertension;mRNA:decreased expression:kidney cortex	PMID:19887786|REF_RGD_ID:7247603
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:619788	D	RGD:9068941	20260604	RGD			PMID:29923767|REF_RGD_ID:149735534
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:619788	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:22673147|REF_RGD_ID:7247584
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:9002174	Disease Susceptibility		ISO	RGD:1347433	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20130021
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:9002211	Hyperalgesia		ISO	RGD:619788	D	RGD:9068941	20200609	RGD			PMID:19439599|REF_RGD_ID:7247605
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:619788	D	RGD:9068941	20230128	RGD		mRNA:increased expression:glomerular podocytes (rat)	PMID:31784544|REF_RGD_ID:155882534
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:9003936	Cardiomegaly		ISO	RGD:732721	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:23212367|REF_RGD_ID:7247443
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:9004009	Reperfusion Injury	treatment	ISO	RGD:619788	D	RGD:9068941	20200609	RGD			PMID:20554625|REF_RGD_ID:4891135
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8763512	Trpc6	transient receptor potential cation channel subfamily C member 6	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:619788	D	RGD:9068941	20200609	RGD		protein:increased expression:artery smooth muscle	PMID:20337661|REF_RGD_ID:7247596
8763529	Slamf8	SLAM family member 8	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1314782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28067908
8763529	Slamf8	SLAM family member 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8763529	Slamf8	SLAM family member 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8763529	Slamf8	SLAM family member 8	gene	DOID:1324	lung cancer		ISO	RGD:1314782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8763529	Slamf8	SLAM family member 8	gene	DOID:3275	thymoma		ISO	RGD:1314782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8763529	Slamf8	SLAM family member 8	gene	DOID:4362	cervical cancer		ISO	RGD:1314782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8763529	Slamf8	SLAM family member 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8763529	Slamf8	SLAM family member 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8763529	Slamf8	SLAM family member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:1059	intellectual disability		ISO	RGD:1346964	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Intellectual disability (moderate)	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:10908	hydrocephalus		ISO	RGD:1608439	D	RGD:9068941	20220825	MouseDO		OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:1909	melanoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:3070	high grade glioma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1346964	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:5419	schizophrenia		ISO	RGD:1346964	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:9538	multiple myeloma		ISO	RGD:1346964	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22120009
8763538	Ulk4	unc-51 like kinase 4	gene	DOID:9970	obesity		ISO	RGD:1346964	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Obesity	
8763580	Bud31	BUD31 spliceosome associated protein	gene	DOID:1395	schistosomiasis		ISO	RGD:621103	D	RGD:9068941	20200609	RGD		Protein:increased expression:serum (human)	PMID:22686541|REF_RGD_ID:10058982
8763580	Bud31	BUD31 spliceosome associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1604400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8763580	Bud31	BUD31 spliceosome associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8763580	Bud31	BUD31 spliceosome associated protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1604400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8763603	Sgcd	sarcoglycan delta	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1315366	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:24033266|PMID:24503780|PMID:25741868|PMID:26084686|PMID:26467025|PMID:28492532
8763603	Sgcd	sarcoglycan delta	gene	DOID:0050700	cardiomyopathy	severity	ISO	RGD:1315367	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:p.Ser151Ala(mouse)	PMID:23695275|REF_RGD_ID:13605617
8763603	Sgcd	sarcoglycan delta	gene	DOID:0050700	cardiomyopathy	severity	ISO	RGD:1315367	D	RGD:9068941	20200609	RGD		associated with limb-girdle muscular dystrophy	PMID:10481911|REF_RGD_ID:13605616
8763603	Sgcd	sarcoglycan delta	gene	DOID:0050700	cardiomyopathy	treatment	ISO	RGD:1315367	D	RGD:9068941	20200609	RGD		associated with Sgcd knockout	PMID:19218289|REF_RGD_ID:13605618
8763603	Sgcd	sarcoglycan delta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8763603	Sgcd	sarcoglycan delta	gene	DOID:0070681	congenital hydrocephalus		ISO	RGD:1315366	D	RGD:8554872	20260505	ClinVar		ClinVar Annotator: match by term: Congenital hydrocephalus	PMID:29983323
8763603	Sgcd	sarcoglycan delta	gene	DOID:0080600	COVID-19		ISO	RGD:1315366	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8763603	Sgcd	sarcoglycan delta	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1315366	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive	PMID:10974018|PMID:12794684|PMID:18414213|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26720722|PMID:26968544|PMID:28401079|PMID:28492532
8763603	Sgcd	sarcoglycan delta	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:10735275|PMID:10838250|PMID:19770540|PMID:25741868|PMID:28492532|PMID:8841194
8763603	Sgcd	sarcoglycan delta	gene	DOID:0110280	autosomal recessive limb-girdle muscular dystrophy type 2F		ISO	RGD:1315366	D	RGD:7240710	20180130	OMIM			
8763603	Sgcd	sarcoglycan delta	gene	DOID:0110280	autosomal recessive limb-girdle muscular dystrophy type 2F		ISO	RGD:1315366	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 | ClinVar Annotator: match by term: Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency | ClinVar Annotator: match by term: Muscular dystrophy, limb girdle 2F	PMID:10735275|PMID:10838250|PMID:10974018|PMID:12794684|PMID:14564412|PMID:16199547|PMID:16524571|PMID:17576681|PMID:18414213|PMID:18996010|PMID:19259135|PMID:19770540|PMID:20623375|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25640679|PMID:25741868|PMID:26077850|PMID:26467025|PMID:26633542|PMID:26720722|PMID:26968544|PMID:28401079|PMID:28492532|PMID:28687063|PMID:28855170|PMID:32875335|PMID:8841194|PMID:9536098|PMID:9832045
8763603	Sgcd	sarcoglycan delta	gene	DOID:0110436	dilated cardiomyopathy 1L		ISO	RGD:1315366	D	RGD:7240710	20180130	OMIM			
8763603	Sgcd	sarcoglycan delta	gene	DOID:0110436	dilated cardiomyopathy 1L		ISO	RGD:1315366	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1L | ClinVar Annotator: match by term: SGCD-related condition	PMID:10735275|PMID:10838250|PMID:10974018|PMID:12794684|PMID:14564412|PMID:19259135|PMID:19770540|PMID:20623375|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26720722|PMID:26968544|PMID:28401079|PMID:28492532|PMID:28855170|PMID:39624497|PMID:8841194
8763603	Sgcd	sarcoglycan delta	gene	DOID:11724	limb-girdle muscular dystrophy	severity	ISO	RGD:1315367	D	RGD:9068941	20200609	RGD			PMID:10481911|REF_RGD_ID:13605616
8763603	Sgcd	sarcoglycan delta	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
8763603	Sgcd	sarcoglycan delta	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315366	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:23861362|PMID:24033266|PMID:25637381|PMID:25741868|PMID:26720722|PMID:28492532
8763603	Sgcd	sarcoglycan delta	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315366	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:23861362|PMID:24033266|PMID:25326637|PMID:25637381|PMID:25741868|PMID:25741913|PMID:26720722|PMID:28492532
8763603	Sgcd	sarcoglycan delta	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315366	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:25741868|PMID:25741913
8763603	Sgcd	sarcoglycan delta	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
8763603	Sgcd	sarcoglycan delta	gene	DOID:4362	cervical cancer		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8763603	Sgcd	sarcoglycan delta	gene	DOID:440	neuromuscular disease		ISO	RGD:1315366	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:10735275|PMID:10838250|PMID:16199547|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:8841194
8763603	Sgcd	sarcoglycan delta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8763603	Sgcd	sarcoglycan delta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8763603	Sgcd	sarcoglycan delta	gene	DOID:630	genetic disease		ISO	RGD:1315366	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:28492532
8763603	Sgcd	sarcoglycan delta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8763603	Sgcd	sarcoglycan delta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:24033266|PMID:26467025|PMID:28492532
8763603	Sgcd	sarcoglycan delta	gene	DOID:9884	muscular dystrophy		ISO	RGD:1315366	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868
8763629	Agpat1	1-acylglycerol-3-phosphate O-acyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1348475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8763629	Agpat1	1-acylglycerol-3-phosphate O-acyltransferase 1	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1348475	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28553957
8763629	Agpat1	1-acylglycerol-3-phosphate O-acyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8763629	Agpat1	1-acylglycerol-3-phosphate O-acyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8763629	Agpat1	1-acylglycerol-3-phosphate O-acyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8763629	Agpat1	1-acylglycerol-3-phosphate O-acyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8763655	Aebp2	AE binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8763655	Aebp2	AE binding protein 2	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1316304	D	RGD:9068941	20220825	MouseDO		OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712	
8763655	Aebp2	AE binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:1316303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8763655	Aebp2	AE binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1316303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8763655	Aebp2	AE binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316303	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8763655	Aebp2	AE binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8763655	Aebp2	AE binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8763655	Aebp2	AE binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8763655	Aebp2	AE binding protein 2	gene	DOID:9258	Waardenburg syndrome		ISO	RGD:1316304	D	RGD:9068941	20220825	MouseDO			
8763667	Sp6	Sp6 transcription factor	gene	DOID:0060945	amelogenesis imperfecta type 1K		ISO	RGD:1315575	D	RGD:7240710	20221102	OMIM			
8763667	Sp6	Sp6 transcription factor	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1306768	D	RGD:9068941	20210423	RGD			PMID:22676574|REF_RGD_ID:10047189
8763667	Sp6	Sp6 transcription factor	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315575	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
8763667	Sp6	Sp6 transcription factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8763680	Tecta	tectorin alpha	gene	DOID:0110479	autosomal recessive nonsyndromic deafness 21		ISO	RGD:1320369	D	RGD:7240710	20180130	OMIM			
8763680	Tecta	tectorin alpha	gene	DOID:0110544	autosomal dominant nonsyndromic deafness 12		ISO	RGD:1320369	D	RGD:7240710	20180130	OMIM			
8763680	Tecta	tectorin alpha	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1320369	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:20947814|PMID:21520338|PMID:21917145|PMID:22718023|PMID:24033266|PMID:24586623|PMID:25741868|PMID:27627659|PMID:28000701|PMID:28492532|PMID:31163360|PMID:31554319|PMID:32853555
8763680	Tecta	tectorin alpha	gene	DOID:9004538	Hearing Loss		ISO	RGD:11607063|RGD:11618191|RGD:11650791|RGD:11654524|RGD:401948000	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	
8763719	Csrp2	cysteine and glycine rich protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1352848	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8763719	Csrp2	cysteine and glycine rich protein 2	gene	DOID:1909	melanoma		ISO	RGD:1352848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8763719	Csrp2	cysteine and glycine rich protein 2	gene	DOID:3070	high grade glioma		ISO	RGD:1352848	D	RGD:9068941	20250403	CTD		CTD Direct Evidence: marker/mechanism	PMID:38744347
8763719	Csrp2	cysteine and glycine rich protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8763719	Csrp2	cysteine and glycine rich protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8763719	Csrp2	cysteine and glycine rich protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8763719	Csrp2	cysteine and glycine rich protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:10534	stomach cancer		ISO	RGD:732777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:10603	glucose intolerance		ISO	RGD:1557958	D	RGD:9068941	20200609	RGD			PMID:10611300|REF_RGD_ID:737713
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:1287	cardiovascular system disease		ISO	RGD:732777	D	RGD:9068941	20200609	RGD		DNA:missense mutation:p.E354Q (human)	PMID:17624916|REF_RGD_ID:2312618
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:732777	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17094902
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:4195	hyperglycemia		ISO	RGD:1557958	D	RGD:9068941	20200609	RGD			PMID:10611300|REF_RGD_ID:737713
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:4195	hyperglycemia		ISO	RGD:2689	D	RGD:9068941	20200609	RGD		protein:decreased expression:pancreatic islet (rat)	PMID:17505054|REF_RGD_ID:2312603
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:732777	D	RGD:9068941	20200609	RGD			PMID:19211686|REF_RGD_ID:2306734
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2689	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina (rat)	PMID:12789546|REF_RGD_ID:2312548
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:9007633	Body Weight		ISO	RGD:732777	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22344221
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:9351	diabetes mellitus		ISO	RGD:732777	D	RGD:9068941	20200609	RGD		human gene, mouse model	PMID:15582721|REF_RGD_ID:2312617
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2689	D	RGD:9068941	20200609	RGD			PMID:11334402|REF_RGD_ID:68929
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732777	D	RGD:9068941	20200609	RGD		protein:decreased expression:pancreatic islet (human)	PMID:19386626|REF_RGD_ID:2312454
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:9970	obesity		ISO	RGD:1557958	D	RGD:9068941	20200609	RGD		mRNA:splice variant:pancreatic islet (mouse)	PMID:17971513|REF_RGD_ID:2312612
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:9970	obesity		ISO	RGD:732777	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron 1 C>A (rs2302382) (human)	PMID:19254363|REF_RGD_ID:2312615
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:9970	obesity		ISO	RGD:732777	D	RGD:9068941	20200609	RGD		mRNA:reduced expression:fat tissue (human)	PMID:17395281|REF_RGD_ID:2312616
8763736	Gipr	gastric inhibitory polypeptide receptor	gene	DOID:9970	obesity	susceptibility	ISO	RGD:1557958	D	RGD:9068941	20200609	RGD			PMID:12068290|REF_RGD_ID:737714
8763784	Lrat	lecithin retinol acyltransferase	gene	DOID:0110078	Leber congenital amaurosis 1		ISO	RGD:68515	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis 1	PMID:25324289|PMID:25472526|PMID:25741868|PMID:28492532|PMID:29186038|PMID:29844330|PMID:30190494|PMID:32865313
8763784	Lrat	lecithin retinol acyltransferase	gene	DOID:0110188	Leber congenital amaurosis 14		ISO	RGD:68515	D	RGD:7240710	20180130	OMIM			
8763784	Lrat	lecithin retinol acyltransferase	gene	DOID:0110188	Leber congenital amaurosis 14		ISO	RGD:68515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LRAT-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar Annotator: match by term: RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED	PMID:11381255|PMID:17011878|PMID:22559933|PMID:22570351|PMID:24265693|PMID:25741868|PMID:27854360|PMID:28492532|PMID:34828430
8763784	Lrat	lecithin retinol acyltransferase	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:68515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:22559933|PMID:24265693|PMID:25324289|PMID:25741868|PMID:28492532|PMID:29844330|PMID:30054919|PMID:30190494|PMID:30718709
8763784	Lrat	lecithin retinol acyltransferase	gene	DOID:10608	celiac disease		ISO	RGD:68515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
8763784	Lrat	lecithin retinol acyltransferase	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:68515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:24033266|PMID:37510321
8763784	Lrat	lecithin retinol acyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:68515	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8763784	Lrat	lecithin retinol acyltransferase	gene	DOID:630	genetic disease		ISO	RGD:68515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8763784	Lrat	lecithin retinol acyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8763784	Lrat	lecithin retinol acyltransferase	gene	DOID:705	Leber hereditary optic neuropathy		ISO	RGD:68515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16250670|PMID:17011878
8763784	Lrat	lecithin retinol acyltransferase	gene	DOID:8501	fundus dystrophy		ISO	RGD:68515	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:21217109|PMID:22559933|PMID:24265693|PMID:25741868|PMID:28492532|PMID:3144818
8763784	Lrat	lecithin retinol acyltransferase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:68515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8763784	Lrat	lecithin retinol acyltransferase	gene	DOID:9002525	Hereditary Eye Diseases		ISO	RGD:68515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16968212
8763784	Lrat	lecithin retinol acyltransferase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:68515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8763784	Lrat	lecithin retinol acyltransferase	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:68515	D	RGD:8554872	20220426	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868
8763784	Lrat	lecithin retinol acyltransferase	gene	DOID:9008550	Vitamin A Deficiency		ISO	RGD:68515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16174770
8763797	Lypd3	LY6/PLAUR domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:70834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8763797	Lypd3	LY6/PLAUR domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:70834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8763797	Lypd3	LY6/PLAUR domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:70834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8763797	Lypd3	LY6/PLAUR domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:70834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8763797	Lypd3	LY6/PLAUR domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:70834	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8763797	Lypd3	LY6/PLAUR domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:70834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8763806	Slc36a2	solute carrier family 36 member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8763806	Slc36a2	solute carrier family 36 member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8763806	Slc36a2	solute carrier family 36 member 2	gene	DOID:0112265	iminoglycinuria		ISO	RGD:1354285	D	RGD:7240710	20180130	OMIM			
8763806	Slc36a2	solute carrier family 36 member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8763806	Slc36a2	solute carrier family 36 member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1354285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8763806	Slc36a2	solute carrier family 36 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8763806	Slc36a2	solute carrier family 36 member 2	gene	DOID:9008487	hyperglycinuria		ISO	RGD:1354285	D	RGD:7240710	20180130	OMIM			
8763806	Slc36a2	solute carrier family 36 member 2	gene	DOID:9008487	hyperglycinuria		ISO	RGD:1354285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperglycinuria | ClinVar Annotator: match by term: SLC36A2-related condition	PMID:25741868|PMID:28492532
8763831	Stard4	StAR related lipid transfer domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1319833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8763831	Stard4	StAR related lipid transfer domain containing 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1319833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8763831	Stard4	StAR related lipid transfer domain containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1319833	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8763831	Stard4	StAR related lipid transfer domain containing 4	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319833	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
8763885	Tnk1	tyrosine kinase non receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8763885	Tnk1	tyrosine kinase non receptor 1	gene	DOID:0081216	autosomal recessive intellectual developmental disorder 54		ISO	RGD:1320828	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: TNK1-related condition	PMID:28492532
8763885	Tnk1	tyrosine kinase non receptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8763885	Tnk1	tyrosine kinase non receptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8763885	Tnk1	tyrosine kinase non receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8763885	Tnk1	tyrosine kinase non receptor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8763885	Tnk1	tyrosine kinase non receptor 1	gene	DOID:3275	thymoma		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8763885	Tnk1	tyrosine kinase non receptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8763885	Tnk1	tyrosine kinase non receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320828	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8763885	Tnk1	tyrosine kinase non receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8763885	Tnk1	tyrosine kinase non receptor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8763885	Tnk1	tyrosine kinase non receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8763885	Tnk1	tyrosine kinase non receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8763885	Tnk1	tyrosine kinase non receptor 1	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	
8763906	Pon3	paraoxonase 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1344009	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8763906	Pon3	paraoxonase 3	gene	DOID:10608	celiac disease		ISO	RGD:1344009	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:duodenum	PMID:17664137|REF_RGD_ID:5509924
8763906	Pon3	paraoxonase 3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1344009	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:multiple SNPs	PMID:16319130|REF_RGD_ID:5509926
8763906	Pon3	paraoxonase 3	gene	DOID:1936	atherosclerosis		ISO	RGD:1344009	D	RGD:9068941	20200609	RGD		mRNA:altered expression::human transgene expression in ApoE-KO mice was protective	PMID:20182519|REF_RGD_ID:5509927
8763906	Pon3	paraoxonase 3	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1344009	D	RGD:9068941	20260521	RGD		DNA:SNP:intron:rs10487132, association with LD block containing both PON3 and PON2	PMID:16822964|REF_RGD_ID:5509925
8763906	Pon3	paraoxonase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1344009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8763906	Pon3	paraoxonase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1344009	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8763906	Pon3	paraoxonase 3	gene	DOID:8577	ulcerative colitis		ISO	RGD:1344009	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:colon	PMID:17664137|REF_RGD_ID:5509924
8763906	Pon3	paraoxonase 3	gene	DOID:8778	Crohn's disease		ISO	RGD:1344009	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:terminal ileum	PMID:17664137|REF_RGD_ID:5509924
8763934	Srpk3	SRSF protein kinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8763934	Srpk3	SRSF protein kinase 3	gene	DOID:0080991	congenital myopathy 1B		ISO	RGD:1349288	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Multiminicore myopathy	PMID:25741868
8763934	Srpk3	SRSF protein kinase 3	gene	DOID:0081337	congenital myopathy		ISO	RGD:1349288	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:25741868
8763934	Srpk3	SRSF protein kinase 3	gene	DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J		ISO	RGD:1349288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J	PMID:25741868|PMID:38429495
8763934	Srpk3	SRSF protein kinase 3	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1349288	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614
8763934	Srpk3	SRSF protein kinase 3	gene	DOID:12849	autistic disorder		ISO	RGD:1349288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25679214|PMID:25741868
8763934	Srpk3	SRSF protein kinase 3	gene	DOID:1324	lung cancer		ISO	RGD:1349288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8763934	Srpk3	SRSF protein kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1349288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8763934	Srpk3	SRSF protein kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8763934	Srpk3	SRSF protein kinase 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349288	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8763934	Srpk3	SRSF protein kinase 3	gene	DOID:9005077	Joint Instability		ISO	RGD:1349288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8763934	Srpk3	SRSF protein kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8763934	Srpk3	SRSF protein kinase 3	gene	DOID:9009260	Non-syndromic X-linked intellectual developmental disorder 114		ISO	RGD:1349288	D	RGD:7240710	20241113	OMIM			
8763934	Srpk3	SRSF protein kinase 3	gene	DOID:9009260	Non-syndromic X-linked intellectual developmental disorder 114		ISO	RGD:1349288	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 114 | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 114	PMID:25741868|PMID:38429495
8763963	Ppp2r3a	protein phosphatase 2 regulatory subunit B''alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8763963	Ppp2r3a	protein phosphatase 2 regulatory subunit B''alpha	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1315869	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
8763963	Ppp2r3a	protein phosphatase 2 regulatory subunit B''alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8763963	Ppp2r3a	protein phosphatase 2 regulatory subunit B''alpha	gene	DOID:1115	sarcoma		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8763963	Ppp2r3a	protein phosphatase 2 regulatory subunit B''alpha	gene	DOID:1909	melanoma		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8763963	Ppp2r3a	protein phosphatase 2 regulatory subunit B''alpha	gene	DOID:3070	high grade glioma		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8763963	Ppp2r3a	protein phosphatase 2 regulatory subunit B''alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8763963	Ppp2r3a	protein phosphatase 2 regulatory subunit B''alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8763963	Ppp2r3a	protein phosphatase 2 regulatory subunit B''alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8763963	Ppp2r3a	protein phosphatase 2 regulatory subunit B''alpha	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8763963	Ppp2r3a	protein phosphatase 2 regulatory subunit B''alpha	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
8763963	Ppp2r3a	protein phosphatase 2 regulatory subunit B''alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8763963	Ppp2r3a	protein phosphatase 2 regulatory subunit B''alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8763963	Ppp2r3a	protein phosphatase 2 regulatory subunit B''alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8763983	Lrrn1	leucine rich repeat neuronal 1	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1345511	D	RGD:9068941	20220616	RGD		mRNA:altered expression:stomach tumor (human)	PMID:28035468|REF_RGD_ID:152995287
8763983	Lrrn1	leucine rich repeat neuronal 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8763983	Lrrn1	leucine rich repeat neuronal 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345511	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8763989	Utp6	UTP6 small subunit processome component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8763989	Utp6	UTP6 small subunit processome component	gene	DOID:10534	stomach cancer		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8763989	Utp6	UTP6 small subunit processome component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8763989	Utp6	UTP6 small subunit processome component	gene	DOID:1324	lung cancer		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8763989	Utp6	UTP6 small subunit processome component	gene	DOID:1909	melanoma		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8763989	Utp6	UTP6 small subunit processome component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8763989	Utp6	UTP6 small subunit processome component	gene	DOID:3070	high grade glioma		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8763989	Utp6	UTP6 small subunit processome component	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8763989	Utp6	UTP6 small subunit processome component	gene	DOID:5041	esophageal cancer		ISO	RGD:1603639	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8763989	Utp6	UTP6 small subunit processome component	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8763989	Utp6	UTP6 small subunit processome component	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8763989	Utp6	UTP6 small subunit processome component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8763989	Utp6	UTP6 small subunit processome component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8763989	Utp6	UTP6 small subunit processome component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8764012	Aven	apoptosis and caspase activation inhibitor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8764012	Aven	apoptosis and caspase activation inhibitor	gene	DOID:10534	stomach cancer		ISO	RGD:1320536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8764012	Aven	apoptosis and caspase activation inhibitor	gene	DOID:1115	sarcoma		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8764012	Aven	apoptosis and caspase activation inhibitor	gene	DOID:1827	generalized epilepsy		ISO	RGD:13464400|RGD:13475427|RGD:13504397|RGD:13813829|RGD:150455722|RGD:15141971	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalised epilepsy	PMID:25741868|PMID:28492532
8764012	Aven	apoptosis and caspase activation inhibitor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8764012	Aven	apoptosis and caspase activation inhibitor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8764012	Aven	apoptosis and caspase activation inhibitor	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1320536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15496427
8764012	Aven	apoptosis and caspase activation inhibitor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8764012	Aven	apoptosis and caspase activation inhibitor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8764012	Aven	apoptosis and caspase activation inhibitor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8764012	Aven	apoptosis and caspase activation inhibitor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8764029	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1352223	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
8764029	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:0070532	aniridia 1		ISO	RGD:1352223	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Aniridia 1	
8764029	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:0111806	syndromic microphthalmia 5		ISO	RGD:11599116|RGD:11599246|RGD:11599264|RGD:11599292|RGD:11599475|RGD:11600178|RGD:11600268|RGD:11600279|RGD:11600325|RGD:11600473|RGD:11600671|RGD:11600825|RGD:11600949|RGD:11601140|RGD:11601286|RGD:11601429|RGD:11601655|RGD:11602169|RGD:11612602|RGD:11612625|RGD:11612694|RGD:11612749|RGD:11612809|RGD:11612815|RGD:11612860|RGD:11612938|RGD:11613302|RGD:11613311|RGD:11613818|RGD:11613985|RGD:11614013|RGD:11614267|RGD:11614362|RGD:11614735|RGD:11615188|RGD:11615469|RGD:11616152|RGD:11616600|RGD:11617002|RGD:11644438|RGD:11644607|RGD:11644638|RGD:11645271|RGD:11645555|RGD:11645677|RGD:11647215|RGD:11647264|RGD:11647995|RGD:11648214|RGD:11649020|RGD:11649667|RGD:11650342|RGD:11650548|RGD:11651004|RGD:28897959|RGD:28898733|RGD:28899237|RGD:28899455|RGD:28899463|RGD:28900461|RGD:28900718|RGD:28901188|RGD:28901676|RGD:28901903|RGD:28901911|RGD:28902607|RGD:28902613|RGD:28903621|RGD:28905116|RGD:28905459|RGD:28905636|RGD:28906088|RGD:28906724|RGD:28907072|RGD:28907401|RGD:28907541|RGD:28907688|RGD:28907887|RGD:28908458|RGD:28909141|RGD:28909332|RGD:28909341	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome	
8764029	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1352223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8764029	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:12271	aniridia		ISO	RGD:1352223	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	
8764029	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1352223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8764029	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:14515	WAGR syndrome		ISO	RGD:1352223	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: WAGR Complex	PMID:25741868|PMID:28492532
8764029	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:3070	high grade glioma		ISO	RGD:1352223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8764029	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1352223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8764029	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1352223	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8764029	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764029	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1352223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8764029	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:9003911	Aniridia 2		ISO	RGD:1352223	D	RGD:7240710	20190327	OMIM			
8764029	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:9003911	Aniridia 2		ISO	RGD:1352223	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Aniridia 2 | ClinVar Annotator: match by term: ELP4-related condition	PMID:25741868|PMID:26010655|PMID:28492532
8764029	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1352223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
8764079	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8764079	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1343121	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27023435|PMID:29107063|PMID:30319691|PMID:30320580
8764079	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:1115	sarcoma		ISO	RGD:1343121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8764079	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:1909	melanoma		ISO	RGD:1343121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8764079	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:3526	cerebral infarction		ISO	RGD:1343121	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2075650 (human)	PMID:26171154|REF_RGD_ID:13464126
8764079	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1343121	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8764079	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:4362	cervical cancer		ISO	RGD:1343121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8764079	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764079	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:9003370	Dyslipidemias		ISO	RGD:1343121	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29670124
8764079	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1303022	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina	PMID:23255365|REF_RGD_ID:13463486
8764079	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1343121	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8764079	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8764093	Prmt5	protein arginine methyltransferase 5	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1319178	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:31123343
8764093	Prmt5	protein arginine methyltransferase 5	gene	DOID:0050902	medulloblastoma		ISO	RGD:1319178	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: therapeutic	PMID:31694585
8764093	Prmt5	protein arginine methyltransferase 5	gene	DOID:0060250	idiopathic scoliosis		ISO	RGD:1319179	D	RGD:9068941	20220825	MouseDO			
8764093	Prmt5	protein arginine methyltransferase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1319178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8764093	Prmt5	protein arginine methyltransferase 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8764093	Prmt5	protein arginine methyltransferase 5	gene	DOID:1324	lung cancer		ISO	RGD:1319178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8764093	Prmt5	protein arginine methyltransferase 5	gene	DOID:1909	melanoma		ISO	RGD:1319178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8764093	Prmt5	protein arginine methyltransferase 5	gene	DOID:2696	Leydig cell tumor		ISO	RGD:1319178	D	RGD:9068941	20200609	RGD		protein:altered localization	PMID:17437848|REF_RGD_ID:2299953
8764093	Prmt5	protein arginine methyltransferase 5	gene	DOID:2841	asthma		ISO	RGD:1309053	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung, spleen	PMID:20423833|REF_RGD_ID:9491823
8764093	Prmt5	protein arginine methyltransferase 5	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8764093	Prmt5	protein arginine methyltransferase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1319178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8764093	Prmt5	protein arginine methyltransferase 5	gene	DOID:4440	seminoma		ISO	RGD:1319178	D	RGD:9068941	20200609	RGD		protein:altered localization	PMID:17437848|REF_RGD_ID:2299953
8764093	Prmt5	protein arginine methyltransferase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764093	Prmt5	protein arginine methyltransferase 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8764093	Prmt5	protein arginine methyltransferase 5	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1319179	D	RGD:9068941	20250327	RGD		mRNA:decreased expression:nucleus accumbens (mouse)	PMID:27506785|REF_RGD_ID:11561325
8764093	Prmt5	protein arginine methyltransferase 5	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:1319178	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: therapeutic	PMID:30957988
8764093	Prmt5	protein arginine methyltransferase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8764093	Prmt5	protein arginine methyltransferase 5	gene	DOID:9538	multiple myeloma		ISO	RGD:1319178	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:29158558
8764122	Ppp1r26	protein phosphatase 1 regulatory subunit 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764131	Bfsp2	beaded filament structural protein 2	gene	DOID:0110239	cataract 12 multiple types		ISO	RGD:1347093	D	RGD:7240710	20180130	OMIM			
8764131	Bfsp2	beaded filament structural protein 2	gene	DOID:0110239	cataract 12 multiple types		ISO	RGD:1347093	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: BFSP2-related condition | ClinVar Annotator: match by term: Cataract 12 multiple types | ClinVar Annotator: match by term: cataract 12 multiple types	PMID:10729115|PMID:12573667|PMID:14638724|PMID:21836522|PMID:25741868|PMID:28492532
8764131	Bfsp2	beaded filament structural protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1347093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8764131	Bfsp2	beaded filament structural protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1347093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8764131	Bfsp2	beaded filament structural protein 2	gene	DOID:540	strabismus		ISO	RGD:1347093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
8764131	Bfsp2	beaded filament structural protein 2	gene	DOID:83	cataract		ISO	RGD:1347093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	
8764131	Bfsp2	beaded filament structural protein 2	gene	DOID:83	cataract	susceptibility	ISO	RGD:1347093	D	RGD:9068941	20200609	RGD		protein:missense mutation:exon:p.R287W (human)	PMID:10729115|REF_RGD_ID:1600516
8764131	Bfsp2	beaded filament structural protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8764131	Bfsp2	beaded filament structural protein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1347093	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8764131	Bfsp2	beaded filament structural protein 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1347093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
8764140	Arhgap36	Rho GTPase activating protein 36	gene	DOID:10534	stomach cancer		ISO	RGD:1603262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8764140	Arhgap36	Rho GTPase activating protein 36	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8764140	Arhgap36	Rho GTPase activating protein 36	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764140	Arhgap36	Rho GTPase activating protein 36	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8764163	Hbp1	HMG-box transcription factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8764163	Hbp1	HMG-box transcription factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8764163	Hbp1	HMG-box transcription factor 1	gene	DOID:0080600	COVID-19		ISO	RGD:733921	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8764163	Hbp1	HMG-box transcription factor 1	gene	DOID:3070	high grade glioma		ISO	RGD:733921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8764163	Hbp1	HMG-box transcription factor 1	gene	DOID:3275	thymoma		ISO	RGD:733921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8764163	Hbp1	HMG-box transcription factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:733921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8764163	Hbp1	HMG-box transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764163	Hbp1	HMG-box transcription factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8764163	Hbp1	HMG-box transcription factor 1	gene	DOID:8398	osteoarthritis		ISO	RGD:733921	D	RGD:9068941	20200609	RGD			PMID:22586168|REF_RGD_ID:10402054
8764163	Hbp1	HMG-box transcription factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8764163	Hbp1	HMG-box transcription factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8764163	Hbp1	HMG-box transcription factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :1298A>C (human)	PMID:17111197|REF_RGD_ID:10449410
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0050633	ocular albinism 1		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ocular albinism	
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0050745	diffuse large B-cell lymphoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human)	PMID:17712558|REF_RGD_ID:6893517
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0050830	peripheral artery disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:transition:cds:g.677C>T (human)	PMID:16274479|REF_RGD_ID:6893659
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0050864	non-arteritic anterior ischemic optic neuropathy	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :677C>T(human)	PMID:20162297|REF_RGD_ID:8693343
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0050866	oral squamous cell carcinoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:677C>T (human)	PMID:16365753|REF_RGD_ID:10449416
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0050873	follicular lymphoma		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16410450
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:19764075|REF_RGD_ID:4891157
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0051061	stroke		ISO	RGD:733483	D	RGD:9068941	20240815	CTD		CTD Direct Evidence: marker/mechanism	PMID:15534175|PMID:16681562|PMID:19646848
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0051061	stroke		ISO	RGD:733483	D	RGD:9068941	20240815	RGD		DNA:transition:cds:g.677C>T (human)	PMID:15652605|REF_RGD_ID:6893467
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0051061	stroke	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Anemia, Sickle Cell;DNA:missense mutation:cds:677C>T (human)	PMID:9840906|REF_RGD_ID:10449417
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:733483	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0060058	lymphoma		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16799656
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17488658
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0060326	myelomeningocele		ISO	RGD:733483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myelomeningocele	PMID:25741868
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0060770	dextro-looped transposition of the great arteries	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: : rs1801133(human)	PMID:22868813|REF_RGD_ID:11565105
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0060903	thrombosis	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T (human)	PMID:10780318|REF_RGD_ID:10449414
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :677C>T, 1298A>C (human)	PMID:23107469|REF_RGD_ID:10449419
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0070309	absence epilepsy		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:28492532
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0080016	spina bifida		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27713094
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0080016	spina bifida	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :677C>T(human)	PMID:15022402|REF_RGD_ID:11565178
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0080016	spina bifida	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :677C>T(human)	PMID:12797455|REF_RGD_ID:11565104
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0080016	spina bifida	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:10791559|REF_RGD_ID:6893455
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0080074	neural tube defect		ISO	RGD:1551392	D	RGD:9068941	20260521	MouseDO		OMIM:182940 | OMIM:301410 | OMIM:601634	
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0080074	neural tube defect		ISO	RGD:733483	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:23056169
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0080074	neural tube defect	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :677C>T(human)	PMID:8826441|REF_RGD_ID:11565102
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0080177	hepatic veno-occlusive disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)	PMID:24583625|REF_RGD_ID:14696752
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0080178	mucositis		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17488658
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :1298A > C (human)	PMID:24488901|REF_RGD_ID:14696706
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)	PMID:17563923|REF_RGD_ID:14696748
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16518429
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0081267	graft-versus-host disease	treatment	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:19005482|REF_RGD_ID:6893635
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0111907	thrombophilia due to thrombin defect		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT | ClinVar Annotator: match by term: Thrombophilia due to thrombin defect	PMID:10679944|PMID:11418485|PMID:11710708|PMID:12453860|PMID:12673793|PMID:12733064|PMID:12915598|PMID:15048559|PMID:16432849|PMID:16501586|PMID:16870553|PMID:17488658|PMID:17512587|PMID:18381794|PMID:18458567|PMID:19031955|PMID:19648163|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:25007187|PMID:25110820|PMID:25162892|PMID:25177243|PMID:25227144|PMID:25736335|PMID:25741868|PMID:25778468|PMID:25856670|PMID:26872964|PMID:27104192|PMID:27118298|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29246599|PMID:29589488|PMID:29911750|PMID:30684021|PMID:32612964|PMID:32695297|PMID:33089527|PMID:37972026|PMID:7647779|PMID:9545395|PMID:9781030
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0111907	thrombophilia due to thrombin defect	susceptibility	ISO	RGD:733483	D	RGD:7240710	20260715	OMIM			
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10024	migraine with aura	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:677C>T(human)	PMID:21635773|REF_RGD_ID:7387244
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10159	osteonecrosis	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Anemia, Sickle Cell;DNA:SNP: :677C>T (human)	PMID:9840906|REF_RGD_ID:10449417
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10283	prostate cancer		ISO	RGD:733483	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10283	prostate cancer		ISO	RGD:733483	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10534	stomach cancer	no_association	ISO	RGD:733483	D	RGD:9068941	20200814	RGD		DNA:missense mutation:cds:g.677C>T (human)	PMID:23183616|PMID:24615072|REF_RGD_ID:38501052|REF_RGD_ID:38501056
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10548	cardia cancer	no_association	ISO	RGD:733483	D	RGD:9068941	20200813	RGD		associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human)	PMID:24615072|REF_RGD_ID:38501052
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10579	leukodystrophy		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy | ClinVar Annotator: match by term: leukodystrophy	PMID:25741868
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1059	intellectual disability		ISO	RGD:733483	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17192785
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1067	open-angle glaucoma	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: : 677C>T, 1298A>C (human)	PMID:17558844|REF_RGD_ID:7387254
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1067	open-angle glaucoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T(human)	PMID:15808177|REF_RGD_ID:7387252
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1074	kidney failure		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:20433440|REF_RGD_ID:6893515
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10873	Kuhnt-Junius degeneration	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:rs1801133(human)	PMID:22065928|REF_RGD_ID:7387224
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10907	microcephaly		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10908	hydrocephalus		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10923	sickle cell anemia	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :1298A>C (human)	PMID:22924497|REF_RGD_ID:10449403
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10923	sickle cell anemia	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T (human)	PMID:20113291|REF_RGD_ID:10449420
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10923	sickle cell anemia	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T (human)	PMID:22924497|REF_RGD_ID:10449403
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1094	attention deficit hyperactivity disorder	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :1298A>C,677C>T(human)	PMID:21819229|REF_RGD_ID:11565109
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1094	attention deficit hyperactivity disorder	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :1298A>C(human)	PMID:21897766|REF_RGD_ID:11565107
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22747749
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11054	urinary bladder cancer	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		protein:missense mutation:cds:p.A222V (human)	PMID:17311259|REF_RGD_ID:6893597
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11054	urinary bladder cancer	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human)	PMID:20146887|REF_RGD_ID:6893516
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11054	urinary bladder cancer	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:22126575|REF_RGD_ID:6893457
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11054	urinary bladder cancer	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transversion:cds:g.1298A>C (human)	PMID:19837268|REF_RGD_ID:6893521
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11166	Human papillomavirus infectious disease	no_association	ISO	RGD:733483	D	RGD:9068941	20200814	RGD		DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	PMID:23444906|REF_RGD_ID:38501058
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11512	Budd-Chiari syndrome		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition: :677C>T (human)	PMID:12221667|REF_RGD_ID:10449395
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11512	Budd-Chiari syndrome	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)	PMID:26238013|REF_RGD_ID:11537993
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11664	nephrosclerosis		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	PMID:21613384|REF_RGD_ID:6893469
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:25741868|PMID:28492532
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11695	portal vein thrombosis	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T(human)	PMID:25987440|PMID:27221722|REF_RGD_ID:14696705|REF_RGD_ID:14696749
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11713	diabetic angiopathy		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16681562
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11836	clubfoot		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16936070
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1205	allergic disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16766537
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:12134	factor VIII deficiency	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :1298A>C (human)	PMID:22411997|REF_RGD_ID:10449409
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:12134	factor VIII deficiency	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T (human)	PMID:22411997|REF_RGD_ID:10449409
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1227	neutropenia		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19391036
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:12336	male infertility		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16861746
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:12336	male infertility	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :677C>T(human)	PMID:16247718|REF_RGD_ID:11565106
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:677C>T(human)	PMID:20941748|REF_RGD_ID:7387246
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:12849	autistic disorder		ISO	RGD:733483	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:28492532
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1287	cardiovascular system disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16958597|PMID:25050994
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1287	cardiovascular system disease		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	PMID:12187094|REF_RGD_ID:1580585
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:13001	carotid stenosis		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:rs1801133, c.677C>T, p.A222V, in men only	PMID:15748240|REF_RGD_ID:5509914
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1324	lung cancer		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:13550	angle-closure glaucoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :677C>T,1298A>C(human)	PMID:19936026|REF_RGD_ID:7387250
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:13938	amenorrhea		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amenorrhea	
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:14018	alcoholic liver cirrhosis	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T(human)	PMID:25987440|REF_RGD_ID:14696749
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:14250	Down syndrome		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16353284|PMID:16489479|PMID:16845273|PMID:17431899
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:14250	Down syndrome	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs:cds:c.677C>T,c.1298A>C (human)	PMID:16489479|REF_RGD_ID:11565177
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:14330	Parkinson's disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30726997
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1459	hypothyroidism		ISO	RGD:1309952	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver (rat)	PMID:7990714|REF_RGD_ID:6893690
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1588	thrombocytopenia		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1588	thrombocytopenia	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :677C>T, 1793G>A (human)	PMID:23498762|REF_RGD_ID:10449418
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1596	depressive disorder		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17074966
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1682	congenital heart disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16524890
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1727	retinal vein occlusion	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :1298A>C(human)	PMID:23289804|REF_RGD_ID:10449405
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1727	retinal vein occlusion	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:677C>T (human)	PMID:24250697|REF_RGD_ID:10449421
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1727	retinal vein occlusion	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T(human)	PMID:10485556|REF_RGD_ID:7387256
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1749	squamous cell carcinoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:17627246|REF_RGD_ID:6893580
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:178	vascular disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19646848
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :677C>T (human)	PMID:16737574|REF_RGD_ID:2317120
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1826	epilepsy		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1827	generalized epilepsy		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1936	atherosclerosis	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic; DNA:transversion:cds:g.1298A>C (human)	PMID:17899317|REF_RGD_ID:6893579
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1984	rectal benign neoplasm	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:21865946|REF_RGD_ID:6893664
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2043	hepatitis B	no_association	ISO	RGD:733483	D	RGD:9068941	20200820	RGD		DNA:missense mutations:cds:g.1298A>C, g.2756A>G	PMID:18222012|REF_RGD_ID:38508898
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2043	hepatitis B	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200820	RGD		DNA:transition:cds:g.677C>T (human)	PMID:18222012|REF_RGD_ID:38508898
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2154	nephroblastoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:19346876|REF_RGD_ID:6893546
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2316	brain ischemia		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15534175
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2355	anemia		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19391036|PMID:25007187
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2355	anemia	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma; DNA:SNP:: rs1801133(human)	PMID:25007187|REF_RGD_ID:11080979
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2388	renal artery disease		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:16760910|REF_RGD_ID:2313876
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2452	thrombophilia		ISO	RGD:733483	D	RGD:9068941	20200730	CTD		CTD Direct Evidence: marker/mechanism	PMID:17493413
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2452	thrombophilia		ISO	RGD:733483	D	RGD:9068941	20200730	RGD		associated with Liver Cirrhosis, Biliary;DNA:SNP: :677C>T (human)	PMID:16570355|REF_RGD_ID:10449396
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2671	transitional cell carcinoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transversion:cds:g.1298A>C (human)	PMID:21046286|REF_RGD_ID:6893477
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2841	asthma		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:20456312|REF_RGD_ID:4891145
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2921	glomerulonephritis		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:22111818|REF_RGD_ID:6893468
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2987	familial Mediterranean fever	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200813	RGD		DNA:missense mutations:cds:g.677C>T (rs1801133), g.1298A>C (rs1801131) (human)	PMID:28543752|REF_RGD_ID:38501050
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:3021	acute kidney failure		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17387702
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:3070	high grade glioma		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:25736335|PMID:25741868|PMID:28492532|PMID:31068897
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:319	spinal cord disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16361298
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:326	ischemia	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Retinal Vein Occlusion;DNA:SNP:cds:677C>T(human)	PMID:17719079|REF_RGD_ID:7387251
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:3312	bipolar disorder		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17074966
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:332	amyotrophic lateral sclerosis	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :c.677C>T(human)	PMID:21868135|REF_RGD_ID:11565173
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:332	amyotrophic lateral sclerosis	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :c.677C>T(human)	PMID:21128869|REF_RGD_ID:11565111
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:3347	osteosarcoma	treatment	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:19159907|REF_RGD_ID:6893634
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:3393	coronary artery disease	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:15648053|REF_RGD_ID:1580579
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:12387655|REF_RGD_ID:6893453
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20231026	RGD		DNA:SNPs: (rs1801133, rs4846049) (Human)	PMID:24315498|REF_RGD_ID:401850782
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:3526	cerebral infarction		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:10929044|REF_RGD_ID:1580590
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:3572	intracranial sinus thrombosis		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18941937
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:37	skin disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17548696
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:409	liver disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16877991
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:4247	coronary restenosis		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16489563
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:4362	cervical cancer	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200813	RGD		DNA:missense mutation:cds:g.1298A>C (human)	PMID:27771518|REF_RGD_ID:38501051
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:4450	renal cell carcinoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.A222V (rs1801133) (human)	PMID:18098291|REF_RGD_ID:6893654
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:4467	clear cell renal cell carcinoma	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	PMID:20039875|REF_RGD_ID:6893632
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:4467	clear cell renal cell carcinoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	PMID:21489764|REF_RGD_ID:6893474
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:4947	cholangiocarcinoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism (human)	PMID:17201138|REF_RGD_ID:2317119
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:5082	liver cirrhosis	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T(human)	PMID:25987440|REF_RGD_ID:14696749
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:5409	lung small cell carcinoma	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		protein:missense mutation:cds:p.A222V (human)	PMID:17533396|REF_RGD_ID:4891158
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:5419	schizophrenia		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:10679944|PMID:12733064|PMID:15048559|PMID:25736335|PMID:25741868|PMID:26872964|PMID:27118298|PMID:27743313|PMID:28492532|PMID:29246599|PMID:33089527|PMID:37972026|PMID:9781030
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:5419	schizophrenia	susceptibility	ISO	RGD:733483	D	RGD:7240710	20260715	OMIM			
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:557	kidney disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18551038
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:5614	eye disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Behcet Syndrome;DNA:SNP:cds:677C>T(human)	PMID:16299146|REF_RGD_ID:7387241
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:5679	retinal disease		ISO	RGD:1551392	D	RGD:9068941	20200609	RGD			PMID:20532821|REF_RGD_ID:7387239
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:5844	myocardial infarction		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T (human)	PMID:10090925|REF_RGD_ID:10449412
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic; DNA:transition:cds:g.677C>T rs1801133 (human)	PMID:19272686|REF_RGD_ID:6893548
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:607	paraplegia		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:10679944|PMID:12733064|PMID:25736335|PMID:25741868|PMID:26872964|PMID:27118298|PMID:28492532|PMID:33089527|PMID:9781030
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:61	mitral valve disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20210305	RGD		associated with rheumatic heart disease;DNA:SNP:cds:677C>T (human)	PMID:26813460|REF_RGD_ID:11537145
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:615	leukopenia		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19648163
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:630	genetic disease		ISO	RGD:733483	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:6364	migraine	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:677C>T(human)	PMID:21635773|REF_RGD_ID:7387244
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:6419	tetralogy of Fallot	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: : rs1801133(human)	PMID:22868813|REF_RGD_ID:11565105
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:674	cleft palate		ISO	RGD:733483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: cleft palate	
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T(human)	PMID:23996892|REF_RGD_ID:14696704
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:684	hepatocellular carcinoma	onset	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :1298A>C(human)	PMID:19035314|REF_RGD_ID:14696707
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP,haplotype: :677C>T, 1298A>C(human)	PMID:17503006|REF_RGD_ID:14696703
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :677C>T, 1298A>C(human)	PMID:17659576|REF_RGD_ID:14696708
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:7147	ankylosing spondylitis	susceptibility	ISO	RGD:733483	D	RGD:9068941	20210305	RGD		DNA:SNP:cds:677C>T (human)	PMID:25060515|REF_RGD_ID:42722610
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22104130
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T(human)	PMID:23685257|REF_RGD_ID:7387222
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:74	hematopoietic system disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19159907
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:17398378|REF_RGD_ID:6893584
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:77	gastrointestinal system disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19648163
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:783	end stage renal disease		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T(human)	PMID:25664255|REF_RGD_ID:14696732
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:783	end stage renal disease	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:19520069|REF_RGD_ID:6893523
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:783	end stage renal disease	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human)	PMID:14737040|REF_RGD_ID:6893524
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:783	end stage renal disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	PMID:19520684|REF_RGD_ID:6893522
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:783	end stage renal disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transitions, transversion, haplotype:cds:g.677C>T, g.1298A>C, g.1793G>A (human)	PMID:17899317|REF_RGD_ID:6893579
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:784	chronic kidney disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:g.677C>T (human)	PMID:23595572|REF_RGD_ID:7244284
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:7997	thyrotoxicosis		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18941937
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:7998	hyperthyroidism		ISO	RGD:1309952	D	RGD:9068941	20200609	RGD		protein:increased activity:liver (rat)	PMID:7990714|REF_RGD_ID:6893690
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:8029	sporadic breast cancer	no_association	ISO	RGD:733483	D	RGD:9068941	20200814	RGD		DNA:missense mutations:cds:g.677C>T, g.1298A>T (human)	PMID:28330681|REF_RGD_ID:38501055
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:83	cataract	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype: : 677C>T, 1298A>C (human)	PMID:16310481|REF_RGD_ID:7387253
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :677C>T, 1298A>C(human)	PMID:17156840|REF_RGD_ID:10449408
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:863	nervous system disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21064136
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:865	vasculitis		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasculitis	PMID:25741868|PMID:28492532
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:8725	vascular dementia		ISO	RGD:733483	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:35307828
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:8736	smallpox	treatment	ISO	RGD:733483	D	RGD:9068941	20210305	RGD		DNA:SNP:exon:rs1801133(human)	PMID:18454680|REF_RGD_ID:42722608
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:8778	Crohn's disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28002332
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:8947	diabetic retinopathy	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human)	PMID:9040583|REF_RGD_ID:6893525
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17350979
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:733483	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:18505952|PMID:21347786
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9000326	Thrombotic Microangiopathies	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:19448163|REF_RGD_ID:6893633
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9000343	Vision Disorders		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9000528	Coronary Disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16792904
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9000892	Fetal Distress		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Fetal distress	PMID:25741868
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17704422
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	ISO	RGD:1309952	D	RGD:9068941	20240210	RGD		mRNA:altered expression:hippocampus|hypothalamus (rat)	PMID:26180184|REF_RGD_ID:11074449
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9001542	Albuminuria	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2; DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	PMID:22554825|REF_RGD_ID:6893631
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9001648	Methylenetetrahydrofolate Reductase Deficiency		ISO	RGD:733483	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency	PMID:10196703|PMID:10323741|PMID:10440833|PMID:10551815|PMID:10677336|PMID:10679944|PMID:10732818|PMID:10767000|PMID:10869114|PMID:10923034|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12840091|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16199547|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17409006|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17576681|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20356773|PMID:20472929|PMID:20490923|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21480888|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22887477|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24033266|PMID:24241962|PMID:24797679|PMID:24908438|PMID:24997712|PMID:25007187|PMID:25079578|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25736335|PMID:25741868|PMID:25778468|PMID:25856670|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27104192|PMID:27118298|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27768236|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29246599|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31068897|PMID:31870219|PMID:32230794|PMID:32451826|PMID:32612964|PMID:32695297|PMID:33089527|PMID:3347350|PMID:34015165|PMID:3580562|PMID:6381059|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8940272|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9536098|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9781030|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9001648	Methylenetetrahydrofolate Reductase Deficiency		ISO	RGD:733483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency	PMID:10551815|PMID:10679944|PMID:10767000|PMID:10923034|PMID:11418485|PMID:11710708|PMID:11781870|PMID:11916316|PMID:11929966|PMID:12196644|PMID:12356947|PMID:12453860|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12915598|PMID:15534175|PMID:15565101|PMID:16199547|PMID:16432849|PMID:16501586|PMID:16870553|PMID:17409006|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17576681|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18854913|PMID:19031955|PMID:19648163|PMID:20356773|PMID:20472929|PMID:20490923|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21131308|PMID:21480888|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22695967|PMID:22887477|PMID:22947400|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23526309|PMID:23648444|PMID:24033266|PMID:24241962|PMID:24797679|PMID:24997712|PMID:25007187|PMID:25024447|PMID:25079578|PMID:25110820|PMID:25162892|PMID:25177243|PMID:25227144|PMID:25736335|PMID:25741868|PMID:25778468|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27046515|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27781293|PMID:27992285|PMID:28241805|PMID:28468868|PMID:28492532|PMID:28696419|PMID:29246599|PMID:29284203|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30212743|PMID:30684021|PMID:31069529|PMID:32005694|PMID:32161077|PMID:32411386|PMID:32451826|PMID:32533987|PMID:32612964|PMID:32695297|PMID:32880657|PMID:33089527|PMID:33125268|PMID:33290257|PMID:33502066|PMID:33571559|PMID:33914258|PMID:34015165|PMID:34214447|PMID:34347262|PMID:34657180|PMID:34845156|PMID:34983810|PMID:35008593|PMID:35018185|PMID:35322348|PMID:3535955|PMID:35359558|PMID:35499206|PMID:35568357|PMID:35578252|PMID:36567323|PMID:37239340|PMID:37291213|PMID:37440674|PMID:37489029|PMID:38610036|PMID:39571660|PMID:40260059|PMID:7647779|PMID:7726158|PMID:7920641|PMID:8837319|PMID:8903338|PMID:8940272|PMID:9133512|PMID:9536098|PMID:9545395|PMID:9545406|PMID:9781030|PMID:9789068|PMID:9798595
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9001648	Methylenetetrahydrofolate Reductase Deficiency		ISO	RGD:733483	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency | ClinVar Annotator: match by term: MTHFR-related condition	PMID:10551815|PMID:10679944|PMID:10767000|PMID:10923034|PMID:11418485|PMID:11710708|PMID:11916316|PMID:12453860|PMID:12673793|PMID:12733064|PMID:12915598|PMID:15534175|PMID:16199547|PMID:16432849|PMID:16501586|PMID:16870553|PMID:17488658|PMID:17512587|PMID:17576681|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18854913|PMID:19031955|PMID:19648163|PMID:20356773|PMID:20472929|PMID:20490923|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21131308|PMID:21480888|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22695967|PMID:22887477|PMID:22947400|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23526309|PMID:23648444|PMID:24033266|PMID:24241962|PMID:24797679|PMID:24997712|PMID:25007187|PMID:25024447|PMID:25079578|PMID:25110820|PMID:25162892|PMID:25177243|PMID:25227144|PMID:25736335|PMID:25741868|PMID:25778468|PMID:25856670|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27046515|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27781293|PMID:27992285|PMID:28241805|PMID:28492532|PMID:28696419|PMID:29246599|PMID:29284203|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30212743|PMID:30684021|PMID:31069529|PMID:32005694|PMID:32161077|PMID:32411386|PMID:32451826|PMID:32533987|PMID:32612964|PMID:32695297|PMID:32880657|PMID:33089527|PMID:33125268|PMID:33290257|PMID:33502066|PMID:33571559|PMID:33914258|PMID:34015165|PMID:34214447|PMID:34657180|PMID:34845156|PMID:34983810|PMID:35008593|PMID:35018185|PMID:35322348|PMID:3535955|PMID:35359558|PMID:35499206|PMID:35568357|PMID:35578252|PMID:36567323|PMID:37239340|PMID:37291213|PMID:37440674|PMID:37489029|PMID:38610036|PMID:39322052|PMID:39571660|PMID:7647779|PMID:7726158|PMID:7920641|PMID:8940272|PMID:9536098|PMID:9545395|PMID:9781030
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9001648	Methylenetetrahydrofolate Reductase Deficiency	susceptibility	ISO	RGD:733483	D	RGD:7240710	20260715	OMIM			
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9001989	Folate-Sensitive Neural Tube Defects		ISO	RGD:733483	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Neural tube defects, folate-sensitive | ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to	PMID:10196703|PMID:10323741|PMID:10440833|PMID:10551815|PMID:10677336|PMID:10679944|PMID:10732818|PMID:10767000|PMID:10869114|PMID:10923034|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11395038|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11916316|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16199547|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17284634|PMID:17350979|PMID:17409006|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17576681|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18854913|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20236116|PMID:20356773|PMID:20472929|PMID:20490923|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21131308|PMID:21270786|PMID:21480888|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22887477|PMID:22947400|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23526309|PMID:23648444|PMID:24241962|PMID:24797679|PMID:24997712|PMID:25007187|PMID:25024447|PMID:25079578|PMID:25110820|PMID:25162892|PMID:25177243|PMID:25227144|PMID:25736335|PMID:25741868|PMID:25778468|PMID:25856670|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27104192|PMID:27118298|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27781293|PMID:27981572|PMID:27992285|PMID:28241805|PMID:28468868|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29246599|PMID:29284203|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31068897|PMID:31069529|PMID:32161077|PMID:32451826|PMID:32612964|PMID:32695297|PMID:32939339|PMID:33089527|PMID:33125268|PMID:3347350|PMID:34015165|PMID:34214447|PMID:34347262|PMID:34845156|PMID:35008593|PMID:35322348|PMID:35499206|PMID:35578252|PMID:36901693|PMID:37489029|PMID:37972026|PMID:39825153|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8940272|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9536098|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9781030|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9001989	Folate-Sensitive Neural Tube Defects		ISO	RGD:733483	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neural tube defects, folate-sensitive	PMID:10551815|PMID:10679944|PMID:10767000|PMID:10923034|PMID:11418485|PMID:11710708|PMID:12453860|PMID:12673793|PMID:12733064|PMID:12915598|PMID:15048559|PMID:16199547|PMID:16432849|PMID:16501586|PMID:16870553|PMID:17409006|PMID:17488658|PMID:17512587|PMID:17576681|PMID:18381794|PMID:18458567|PMID:19031955|PMID:19648163|PMID:20236116|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:25007187|PMID:25079578|PMID:25110820|PMID:25162892|PMID:25177243|PMID:25227144|PMID:25736335|PMID:25741868|PMID:25778468|PMID:25856670|PMID:26025547|PMID:26872964|PMID:27104192|PMID:27118298|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27781293|PMID:27992285|PMID:28468868|PMID:28492532|PMID:28696419|PMID:29246599|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31068897|PMID:32612964|PMID:32695297|PMID:33089527|PMID:34214447|PMID:34347262|PMID:37972026|PMID:40260059|PMID:7647779|PMID:8940272|PMID:9536098|PMID:9545395|PMID:9781030
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9001989	Folate-Sensitive Neural Tube Defects	susceptibility	ISO	RGD:733483	D	RGD:7240710	20260715	OMIM			
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9002165	Diabetic Nephropathies	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human)	PMID:18280442|REF_RGD_ID:6893576
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9002165	Diabetic Nephropathies	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human)	PMID:14737040|REF_RGD_ID:6893524
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16706930
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17967524
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9002557	Inherited Blood Coagulation Disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17493413
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9002569	Overweight		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:28492532
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	PMID:25741868
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:733483	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Mental deterioration	PMID:25741868
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9002785	Vitamin B Deficiency		ISO	RGD:1309952	D	RGD:9068941	20251218	RGD		protein:decreased expression, decreased activity:liver	PMID:15845641|REF_RGD_ID:1359026
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16284371
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17303386
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003505	Venous Thromboembolism		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T (human)	PMID:25207100|REF_RGD_ID:10449399
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003505	Venous Thromboembolism	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T, 1298A>C (human)	PMID:25207100|REF_RGD_ID:10449399
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003758	Banti's Syndrome	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)	PMID:18685811|REF_RGD_ID:10755472
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003817	Sudden Hearing Loss		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16275406
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003817	Sudden Hearing Loss		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T(human)	PMID:20798492|REF_RGD_ID:7387236
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003817	Sudden Hearing Loss	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:677C>T(human)	PMID:16572609|REF_RGD_ID:7387240
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003817	Sudden Hearing Loss	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs:cds:677C>T,1298A>C(human)	PMID:15775757|REF_RGD_ID:7387243
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19123085
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:10929044|REF_RGD_ID:1580590
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003871	Venous Thrombosis	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition: :677C>T (human)	PMID:12442281|REF_RGD_ID:10449394
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003871	Venous Thrombosis	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:10792297|REF_RGD_ID:6893655
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003871	Venous Thrombosis	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Lupus Erythematosus, Systemic; DNA:transition, transversion:cds:g.677C>T rs1801133, g.1298A>C rs1801131 (human)	PMID:22707612|REF_RGD_ID:6893602
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9004538	Hearing Loss	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:677C>T(human)	PMID:21385350|REF_RGD_ID:7387225
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9004563	Maxillofacial Abnormalities		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16832597
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9004616	Left Ventricular Hypertrophy	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :677C>T, 1298A>C(human)	PMID:25664255|REF_RGD_ID:14696732
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17389614
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9005236	Drug Eruptions		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14723717
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9005466	Language Development Disorders		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1309952	D	RGD:9068941	20200609	RGD		protein:decreased activity:kidney (rat)	PMID:9836532|REF_RGD_ID:6893689
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9005695	Malnutrition		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16709328
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9005749	Necrosis		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14723717
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9006096	Uterine Cervical Dysplasia		ISO	RGD:733483	D	RGD:9068941	20250417	CTD		CTD Direct Evidence: marker/mechanism	PMID:17303386
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9006262	Cytomegalovirus Infections		ISO	RGD:733483	D	RGD:9068941	20210305	RGD			PMID:19609317|REF_RGD_ID:42722609
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9006262	Cytomegalovirus Infections	ameliorates	ISO	RGD:1551392	D	RGD:9068941	20210305	RGD			PMID:19609317|REF_RGD_ID:42722609
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9006332	Vascular Calcification	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:21394321|REF_RGD_ID:6893475
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9006474	Arterial Occlusive Diseases		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T (human)	PMID:10477457|REF_RGD_ID:10449401
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9006532	Hematologic Neoplasms	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T (human)	PMID:21984221|REF_RGD_ID:10449413
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9006532	Hematologic Neoplasms	treatment	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :1298A>C (human)	PMID:21984221|REF_RGD_ID:10449413
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:733483	D	RGD:9068941	20260305	CTD		CTD Direct Evidence: marker/mechanism	PMID:15753437|PMID:16166815|PMID:17387702|PMID:17502830|PMID:18551038|PMID:19159907|PMID:19391036|PMID:19821069|PMID:21064136|PMID:25007187|PMID:26077125|PMID:40645457
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18551038|PMID:19648163
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with precursor lymphoblastic lymphoma/leukemia; DNA:SNP: :677C>T(human)	PMID:30545275|REF_RGD_ID:14696733
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:10679944|PMID:12733064|PMID:25736335|PMID:25741868|PMID:26872964|PMID:27118298|PMID:28492532|PMID:33089527|PMID:9781030
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9007456	Female Infertility		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16679164
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9007479	Habitual Abortions		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :677C>T, 1298A>C (human)	PMID:22047507|PMID:22882325|REF_RGD_ID:10449404|REF_RGD_ID:10449415
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9007479	Habitual Abortions	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :1298A>C (human)	PMID:19906129|REF_RGD_ID:10449411
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9007573	Flatfoot		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9007617	Conotruncal Cardiac Defects	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs:cds:c.677C>T,c.1298A>C (human)	PMID:12705333|REF_RGD_ID:11565174
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9007661	Dwarfism		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17301261
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24384392
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9008114	Helicobacter Infections	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200814	RGD		associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human)	PMID:20957490|PMID:23183616|REF_RGD_ID:38501056|REF_RGD_ID:38501057
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9008214	Genu Valgum		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:25741868
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15608557|PMID:16512993|PMID:16985020|PMID:17047490|PMID:17087956|PMID:17245555|PMID:17350979|PMID:18676755|PMID:26858257
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9008675	Dyskinesias		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:28492532
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9008887	Microvascular Angina		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17491230
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9008887	Microvascular Angina		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:17491230|REF_RGD_ID:4891159
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16777985|PMID:17595805|PMID:28114181
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:16199547|PMID:25736335|PMID:25741868|PMID:28492532
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :677C>T, 1298A>C(human)	PMID:17156840|REF_RGD_ID:10449408
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:916	liver benign neoplasm	onset	ISO	RGD:1309952	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:22213190|REF_RGD_ID:6893663
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:733483	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:733483	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:733483	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11395038|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25741868|PMID:25741905|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:733483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:11418485|PMID:11710708|PMID:11781870|PMID:11929966|PMID:12196644|PMID:12356947|PMID:12453860|PMID:12560871|PMID:12915598|PMID:15565101|PMID:16432849|PMID:16501586|PMID:16870553|PMID:17436239|PMID:17488658|PMID:17512587|PMID:18381794|PMID:18458567|PMID:19031955|PMID:19648163|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:32612964|PMID:32695297|PMID:7647779|PMID:8837319|PMID:8903338|PMID:9133512|PMID:9545395|PMID:9545406|PMID:9789068|PMID:9798595
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor	PMID:10679944|PMID:11418485|PMID:11710708|PMID:12453860|PMID:12673793|PMID:12915598|PMID:16432849|PMID:16501586|PMID:16870553|PMID:17488658|PMID:17512587|PMID:18381794|PMID:18458567|PMID:19031955|PMID:19648163|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:25007187|PMID:25110820|PMID:25162892|PMID:25177243|PMID:25227144|PMID:25736335|PMID:25741868|PMID:25778468|PMID:25856670|PMID:26872964|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:32612964|PMID:32695297|PMID:7647779|PMID:9545395
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9263	homocystinuria		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Homocystinuria	PMID:10679944|PMID:11418485|PMID:11710708|PMID:12453860|PMID:12673793|PMID:12915598|PMID:16432849|PMID:16501586|PMID:16870553|PMID:17488658|PMID:17512587|PMID:18381794|PMID:18458567|PMID:19031955|PMID:19648163|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:25007187|PMID:25110820|PMID:25162892|PMID:25177243|PMID:25227144|PMID:25736335|PMID:25741868|PMID:25778468|PMID:25856670|PMID:26872964|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:32612964|PMID:32695297|PMID:7647779|PMID:9545395
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:10459572|PMID:15226090|PMID:16317120|PMID:16397167|PMID:16411416|PMID:16575899|PMID:17387702|PMID:18234410|PMID:18551038|PMID:19204075|PMID:19646848
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:missense mutations, nonsense mutations:CDS:multiple (human)	PMID:10679944|REF_RGD_ID:1601421
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9279	hyperhomocysteinemia	treatment	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human)	PMID:12471611|REF_RGD_ID:10449400
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9296	cleft lip		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16470725
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9296	cleft lip	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :c.677C>T(human)	PMID:27387868|REF_RGD_ID:11565179
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9351	diabetes mellitus	no_association	ISO	RGD:733483	D	RGD:9068941	20200813	RGD		DNA:transition:cds:g.677C>T (human)	PMID:9607212|REF_RGD_ID:38501049
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:19996639|REF_RGD_ID:6893653
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	PMID:16828193|REF_RGD_ID:6893657
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:21186995|REF_RGD_ID:6893476
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:936	brain disease		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:28492532
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9406	hypopituitarism		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :677C>T, 1298A>C(human)	PMID:21107737|REF_RGD_ID:10449406
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9452	steatotic liver disease		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic; DNA:transition:cds:g.677C>T (human)	PMID:15834927|REF_RGD_ID:1580580
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9477	pulmonary embolism		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19123085
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9538	multiple myeloma		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:677C>T, 1298A>C (human)	PMID:24839819|REF_RGD_ID:10449397
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9663	aphthous stomatitis	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:677C>T (rs1801133) (human)	PMID:23665953|REF_RGD_ID:10449402
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9744	type 1 diabetes mellitus	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transversion:cds:g.1298A>C (human)	PMID:18774994|REF_RGD_ID:6893652
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9849	Meniere's disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :677C>T(rs1801133),1298A>C(1801131)(human)	PMID:23484733|REF_RGD_ID:7387223
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:987	alopecia		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18381794
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16706930
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9952	acute lymphoblastic leukemia	disease_progression	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human)	PMID:19923983|REF_RGD_ID:10449398
8764184	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9952	acute lymphoblastic leukemia	treatment	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:677C>T (human)	PMID:21644011|REF_RGD_ID:10449407
8764212	Rab32	RAB32, member RAS oncogene family	gene	DOID:1024	leprosy		ISO	RGD:1345972	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22019778
8764212	Rab32	RAB32, member RAS oncogene family	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8764212	Rab32	RAB32, member RAS oncogene family	gene	DOID:14330	Parkinson's disease		ISO	RGD:1345972	D	RGD:9068941	20240905	CTD		CTD Direct Evidence: marker/mechanism	PMID:38858457
8764212	Rab32	RAB32, member RAS oncogene family	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1345972	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
8764212	Rab32	RAB32, member RAS oncogene family	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1345972	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8764212	Rab32	RAB32, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764212	Rab32	RAB32, member RAS oncogene family	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1345972	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8764212	Rab32	RAB32, member RAS oncogene family	gene	DOID:9007415	Parkinson's Disease 26		ISO	RGD:1345972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinson disease 26, autosomal dominant, susceptibility to	
8764212	Rab32	RAB32, member RAS oncogene family	gene	DOID:9007415	Parkinson's Disease 26	susceptibility	ISO	RGD:1345972	D	RGD:7240710	20240828	OMIM			
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:0050457	Sertoli cell-only syndrome		ISO	RGD:737263	D	RGD:9068941	20200609	RGD		protein:decreased expression:testis (human)	PMID:22245417|REF_RGD_ID:9999426
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:10534	stomach cancer		ISO	RGD:737263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:1115	sarcoma		ISO	RGD:737263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:1319	brain cancer	susceptibility	ISO	RGD:737263	D	RGD:9068941	20200609	RGD		associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;mRNA:decreased expression:bone marrow (human)	PMID:15543619|REF_RGD_ID:10002773
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:1324	lung cancer		ISO	RGD:737263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:1324	lung cancer	severity	ISO	RGD:737263	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:20972334|REF_RGD_ID:9999427
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:1909	melanoma		ISO	RGD:737263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:737263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:418	systemic scleroderma		ISO	RGD:737263	D	RGD:9068941	20200609	RGD			PMID:21569507|REF_RGD_ID:9999440
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:4362	cervical cancer		ISO	RGD:737263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:440	neuromuscular disease		ISO	RGD:737263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:5041	esophageal cancer		ISO	RGD:737263	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:737263	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:9000918	Disease Progression		ISO	RGD:737263	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737263	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
8764228	Hnrnpl	heterogeneous nuclear ribonucleoprotein L	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:0060249	scoliosis		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:28492532|PMID:9536098
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:0070113	Niemann-Pick disease type C1		ISO	RGD:736788	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM	PMID:25326637|PMID:28492532
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:0080726	Ehlers-Danlos syndrome classic type 2		ISO	RGD:736788	D	RGD:7240710	20190315	OMIM			
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:0080726	Ehlers-Danlos syndrome classic type 2		ISO	RGD:736788	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COL5A2-related condition | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2	PMID:11668615|PMID:11940702|PMID:16199547|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28132693|PMID:28492532|PMID:2855059|PMID:28550590|PMID:29543232|PMID:31847883|PMID:33161638|PMID:33726816|PMID:33974636|PMID:34265140|PMID:35830949|PMID:35885981|PMID:36580209|PMID:37079061|PMID:38534782|PMID:9536098|PMID:9783710
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:0080727	Ehlers-Danlos syndrome arthrochalasia type 1		ISO	RGD:736788	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A	PMID:25741868|PMID:28492532
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:0080727	Ehlers-Danlos syndrome arthrochalasia type 1		ISO	RGD:736788	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A	PMID:17576681|PMID:25326637|PMID:25741868|PMID:28087566|PMID:28492532|PMID:30467950|PMID:33161638|PMID:9536098
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:0080727	Ehlers-Danlos syndrome arthrochalasia type 1		ISO	RGD:736788	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A	PMID:17576681|PMID:25741868|PMID:28087566|PMID:28492532|PMID:30467950|PMID:33161638|PMID:9536098
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:0110339	osteogenesis imperfecta type 3		ISO	RGD:736788	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta type III	PMID:25741868
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:10126	keratoconus		ISO	RGD:736788	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Keratoconus	
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:1115	sarcoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:12176	goiter		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:28492532
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:1287	cardiovascular system disease		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:13141	uveitis		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveitis	PMID:25741868
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:13207	proliferative diabetic retinopathy		ISO	RGD:736788	D	RGD:9068941	20231102	RGD		mRNA:increased expression:retina (human)	PMID:35692390|REF_RGD_ID:401851065
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:1324	lung cancer		ISO	RGD:736788	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:736788	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33726816|PMID:37079061|PMID:9536098
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28166811|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:33161638|PMID:9536098
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25326637|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:33161638|PMID:9536098
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:32736638|PMID:33161638|PMID:9536098
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:32736638|PMID:33161638|PMID:33974636|PMID:9536098
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25326637|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:30919572|PMID:31829210|PMID:31847883|PMID:32736638|PMID:33161638|PMID:33974636|PMID:34265140|PMID:9536098
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:16199547|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:30919572|PMID:31538843|PMID:31829210|PMID:31847883|PMID:32736638|PMID:33161638|PMID:33974636|PMID:34265140|PMID:9536098
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:16199547|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25326637|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:30675029|PMID:30919572|PMID:31538843|PMID:31829210|PMID:31847883|PMID:32736638|PMID:33161638|PMID:33974636|PMID:34265140|PMID:37079061|PMID:9536098
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:16199547|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25326637|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:30675029|PMID:30919572|PMID:31538843|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32736638|PMID:33161638|PMID:33974636|PMID:34265140|PMID:37079061|PMID:38534782|PMID:9536098
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:16199547|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25326637|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:29543232|PMID:30467950|PMID:30675029|PMID:30919572|PMID:31538843|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32736638|PMID:33082984|PMID:33161638|PMID:33974636|PMID:34265140|PMID:35753512|PMID:37079061|PMID:38534782|PMID:9536098
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:16199547|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26566670|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:29543232|PMID:30467950|PMID:30675029|PMID:30919572|PMID:31538843|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32736638|PMID:33082984|PMID:33161638|PMID:33974636|PMID:34265140|PMID:35753512|PMID:36580209|PMID:37079061|PMID:38534782|PMID:9536098
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28213671|PMID:28492532|PMID:28991257|PMID:30675029|PMID:30919572|PMID:33082984|PMID:33161638|PMID:33726816|PMID:33974636|PMID:34265140|PMID:36011280|PMID:37079061|PMID:38534782|PMID:9536098
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28213671|PMID:28492532|PMID:28991257|PMID:30675029|PMID:30919572|PMID:33082984|PMID:33726816|PMID:33974636|PMID:34265140|PMID:36580209|PMID:37079061|PMID:9536098
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14323	Marfan syndrome		ISO	RGD:736788	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan's syndrome	PMID:25741868|PMID:28492532|PMID:28991257|PMID:31829210
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:20301422|PMID:20648054|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:28132693|PMID:28166811|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:31903434|PMID:9425231|PMID:9536098|PMID:9783710
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28166811|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:31903434|PMID:33161638|PMID:9425231|PMID:9536098|PMID:9783710
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28166811|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:31903434|PMID:33161638|PMID:9425231|PMID:9536098|PMID:9783710
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25741868|PMID:26188975|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31517854|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:33161638|PMID:33834621|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:26188975|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31517854|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:33161638|PMID:33834621|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25741868|PMID:26188975|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:30675029|PMID:31517854|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:32736638|PMID:33161638|PMID:33834621|PMID:33974636|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:26188975|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:30675029|PMID:30919572|PMID:31517854|PMID:31538843|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:32381727|PMID:32736638|PMID:33161638|PMID:33834621|PMID:33974636|PMID:34265140|PMID:35128800|PMID:37079061|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:26188975|PMID:26608033|PMID:27011056|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:30675029|PMID:30919572|PMID:31517854|PMID:31538843|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:32381727|PMID:32736638|PMID:33161638|PMID:33834621|PMID:33974636|PMID:34265140|PMID:35128800|PMID:37079061|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25741868|PMID:26188975|PMID:26608033|PMID:27011056|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:30675029|PMID:30919572|PMID:31517854|PMID:31538843|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:32381727|PMID:32736638|PMID:33161638|PMID:33834621|PMID:33974636|PMID:34265140|PMID:35128800|PMID:37079061|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:26188975|PMID:26608033|PMID:27011056|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:29543232|PMID:30467950|PMID:30675029|PMID:30919572|PMID:31517854|PMID:31538843|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:32381727|PMID:32736638|PMID:33082984|PMID:33161638|PMID:33834621|PMID:33974636|PMID:34265140|PMID:35128800|PMID:35753512|PMID:37079061|PMID:38534782|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25741868|PMID:26188975|PMID:26566670|PMID:26608033|PMID:27011056|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:29543232|PMID:30467950|PMID:30675029|PMID:30919572|PMID:31517854|PMID:31538843|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:32381727|PMID:32736638|PMID:33082984|PMID:33161638|PMID:33834621|PMID:33974636|PMID:34265140|PMID:35128800|PMID:35753512|PMID:36580209|PMID:37079061|PMID:38534782|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20847697|PMID:22696272|PMID:23587214|PMID:25741868|PMID:26188975|PMID:26608033|PMID:27011056|PMID:28213671|PMID:28485813|PMID:28492532|PMID:28855619|PMID:28991257|PMID:29543232|PMID:30675029|PMID:30919572|PMID:31517854|PMID:32736638|PMID:33082984|PMID:33161638|PMID:33726816|PMID:33834621|PMID:33974636|PMID:34265140|PMID:35000503|PMID:35128800|PMID:35830949|PMID:36011280|PMID:37079061|PMID:38534782|PMID:39762984|PMID:7695699|PMID:8218237|PMID:9536098|PMID:9783710
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20847697|PMID:22696272|PMID:23587214|PMID:25741868|PMID:26188975|PMID:26608033|PMID:27011056|PMID:28213671|PMID:28485813|PMID:28492532|PMID:28855619|PMID:28991257|PMID:29543232|PMID:30675029|PMID:30919572|PMID:31517854|PMID:32736638|PMID:33082984|PMID:33726816|PMID:33834621|PMID:33974636|PMID:34265140|PMID:35000503|PMID:35128800|PMID:35830949|PMID:36580209|PMID:37079061|PMID:39762984|PMID:7695699|PMID:8218237|PMID:9536098|PMID:9783710
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:1787	pericarditis		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pericarditis	PMID:25741868
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:1826	epilepsy		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:1909	melanoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:2213	hemorrhagic disease		ISO	RGD:736788	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:25741868|PMID:28492532
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:2355	anemia		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:28492532
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:3144	cutis laxa		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:25741868|PMID:28492532
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:3275	thymoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis	PMID:25741868
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:4362	cervical cancer		ISO	RGD:736788	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:5082	liver cirrhosis		ISO	RGD:736788	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26396155
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:520	aortic disease		ISO	RGD:736788	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Aortopathy	PMID:25741868|PMID:28492532
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:65	connective tissue disease		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:17576681|PMID:25741868|PMID:28213671|PMID:28492532|PMID:33726816|PMID:33974636|PMID:37079061|PMID:9536098
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:28492532
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:7998	hyperthyroidism		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:820	myocarditis		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myocarditis	PMID:25741868
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:850	lung disease		ISO	RGD:736788	D	RGD:9068941	20231102	RGD		mRNA:increased expression:lung (human)	PMID:37731513|REF_RGD_ID:401851918
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:870	neuropathy		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:9000058	Keloid		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Keloid formation	PMID:25741868
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:9000442	Familial Thoracic Aortic Aneurysm 10		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10	
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736788	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:9001581	Constipation		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:28492532
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:9001665	Aneurysm		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aneurysm	PMID:28492532|PMID:29543232|PMID:35753512
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:736788	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:9003591	Telecanthus		ISO	RGD:736788	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868|PMID:28492532
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:9005077	Joint Instability		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:28492532|PMID:9536098
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:9007573	Flatfoot		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:28492532
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:736788	D	RGD:9068941	20200609	RGD		DNA:splicing error	PMID:16431952|REF_RGD_ID:1600694
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:9471	meningitis		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningitis	PMID:25741868
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:9588	encephalitis		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalitis	PMID:25741868
8764257	Col5a2	collagen type V alpha 2 chain	gene	DOID:9993	hypoglycemia		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Reactive hypoglycemia	PMID:25741868
8764323	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8764323	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:0050684	Bowen-Conradi syndrome		ISO	RGD:1607076	D	RGD:7240710	20180130	OMIM			
8764323	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:0050684	Bowen-Conradi syndrome		ISO	RGD:1607076	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BOWEN-CONRADI SYNDROME	
8764323	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8764323	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1607076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8764323	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1607076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8764323	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1607076	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8764323	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764323	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1607076	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8764323	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8764323	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8764333	Pram1	PML-RARA regulated adaptor molecule 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8764333	Pram1	PML-RARA regulated adaptor molecule 1	gene	DOID:3275	thymoma		ISO	RGD:1604582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8764333	Pram1	PML-RARA regulated adaptor molecule 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764333	Pram1	PML-RARA regulated adaptor molecule 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8764333	Pram1	PML-RARA regulated adaptor molecule 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8764333	Pram1	PML-RARA regulated adaptor molecule 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8764356	Rasef	RAS and EF-hand domain containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8764356	Rasef	RAS and EF-hand domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8764356	Rasef	RAS and EF-hand domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8764356	Rasef	RAS and EF-hand domain containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8764356	Rasef	RAS and EF-hand domain containing	gene	DOID:1115	sarcoma		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8764356	Rasef	RAS and EF-hand domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8764356	Rasef	RAS and EF-hand domain containing	gene	DOID:1909	melanoma		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8764356	Rasef	RAS and EF-hand domain containing	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8764356	Rasef	RAS and EF-hand domain containing	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8764356	Rasef	RAS and EF-hand domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1315020	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8764356	Rasef	RAS and EF-hand domain containing	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8764356	Rasef	RAS and EF-hand domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764356	Rasef	RAS and EF-hand domain containing	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8764356	Rasef	RAS and EF-hand domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8764356	Rasef	RAS and EF-hand domain containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:0060135	apraxia		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apraxia	PMID:25741868|PMID:28492532
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:0061250	familial hyperaldosteronism IV		ISO	RGD:68993	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALDOSTERONISM, PRIMARY, AND HYPERTENSION | ClinVar Annotator: match by term: CACNA1H-related condition | ClinVar Annotator: match by term: Hyperaldosteronism, familial, type IV | ClinVar Annotator: match by term: hyperaldosteronism, familial, type IV	PMID:12891677|PMID:14729682|PMID:15048902|PMID:15852375|PMID:15888660|PMID:16199547|PMID:16529636|PMID:16754686|PMID:17576681|PMID:17696120|PMID:21099341|PMID:21703448|PMID:24972929|PMID:25640679|PMID:25741868|PMID:25907736|PMID:26423924|PMID:26467025|PMID:26706850|PMID:27066544|PMID:27331657|PMID:27729216|PMID:28166811|PMID:28488083|PMID:28492532|PMID:28842445|PMID:30552426|PMID:31069529|PMID:31070086|PMID:31139143|PMID:31217264|PMID:31651342|PMID:32032478|PMID:32227660|PMID:32766464|PMID:32859249|PMID:33057194|PMID:33083721|PMID:33478561|PMID:34098317|PMID:35328054|PMID:35467587|PMID:35910327|PMID:35982159|PMID:36397158|PMID:36484990|PMID:36539902|PMID:36786913|PMID:38849547|PMID:9536098
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:0061250	familial hyperaldosteronism IV	susceptibility	ISO	RGD:68993	D	RGD:7240710	20260722	OMIM			
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease	PMID:25741868
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:10534	stomach cancer		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:1059	intellectual disability		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26467025|PMID:28492532
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:26467025|PMID:28492532
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:1115	sarcoma		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:11294	arteriovenous malformation		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arteriovenous malformation	PMID:25741868|PMID:28492532
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:11446	sciatic neuropathy		ISO	RGD:68943	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dorsal root ganglion	PMID:22972512|REF_RGD_ID:15042903
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:11830	myopia		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:12241	beta thalassemia		ISO	RGD:68993	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31542421
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:12849	autistic disorder		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: autism	PMID:25741868
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:1324	lung cancer		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:1596	depressive disorder		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:1825	childhood absence epilepsy		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CACNA1H-related disorder	PMID:25741868|PMID:26467025|PMID:28492532|PMID:32859249
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:1826	epilepsy		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:15048902|PMID:15852375|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32227660
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:1827	generalized epilepsy		ISO	RGD:68993	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalised epilepsy	PMID:16199547|PMID:24972929|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32859249
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:2030	anxiety disorder		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:15048902|PMID:15852375|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32227660
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:2234	focal epilepsy		ISO	RGD:68993	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Focal epilepsy	PMID:25741868
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:234	colon adenocarcinoma		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:2468	psychotic disorder		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:15048902|PMID:15852375|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32227660
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:3275	thymoma		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:26467025|PMID:28492532
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:4362	cervical cancer		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:446	primary hyperaldosteronism		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperaldosteronism | ClinVar Annotator: match by term: Hyperaldosteronism, | ClinVar Annotator: match by term: Primary aldosteronism | ClinVar Annotator: match by term: Primary hyperaldosteronism	PMID:25741868|PMID:28492532
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:480	movement disease		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:15048902|PMID:15852375|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32227660
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:5041	esophageal cancer		ISO	RGD:68993	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:574	peripheral nervous system disease		ISO	RGD:68993	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30552955
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:576	proteinuria		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:630	genetic disease		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:8927	learning disability		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868|PMID:26467025|PMID:28492532
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:9001733	Tinnitus		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:15048902|PMID:15852375|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32227660
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:9001945	Childhood Absence Epilepsy 6		ISO	RGD:68993	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Epilepsy, childhood absence 6 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 6 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 6	PMID:12891677|PMID:14729682|PMID:15048902|PMID:15852375|PMID:15888660|PMID:16199547|PMID:16529636|PMID:16754686|PMID:17576681|PMID:17696120|PMID:21099341|PMID:24277868|PMID:25741868|PMID:26467025|PMID:26539891|PMID:26587300|PMID:27331657|PMID:28488083|PMID:28492532|PMID:30860130|PMID:31130284|PMID:31651342|PMID:32227660|PMID:33083721|PMID:9536098
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:9001945	Childhood Absence Epilepsy 6		ISO	RGD:68993	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 6	PMID:12891677|PMID:14729682|PMID:15048902|PMID:15852375|PMID:15888660|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31130284|PMID:32227660|PMID:36397158
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:9001945	Childhood Absence Epilepsy 6	susceptibility	ISO	RGD:68993	D	RGD:7240710	20260722	OMIM			
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:9002211	Hyperalgesia		ISO	RGD:68993	D	RGD:9068941	20220707	CTD		CTD Direct Evidence: marker/mechanism	PMID:19577366|PMID:30552955|PMID:34286406
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:9002563	Gait Ataxia		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868|PMID:28492532
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:15048902|PMID:15852375|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32227660
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:9003126	Hallucinations		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:15048902|PMID:15852375|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32227660
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:9003539	Hyperacusis		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:15048902|PMID:15852375|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32227660
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:9004538	Hearing Loss		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:15048902|PMID:15852375|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32227660
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:26467025|PMID:28492532
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:68993	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30552955
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:9007956	Febrile Seizures		ISO	RGD:68993	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: febrile seizure	PMID:25741868|PMID:28492532
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:9008023	Memory Disorders		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:9009315	Idiopathic Generalized Epilepsy		ISO	RGD:68993	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EIG | ClinVar Annotator: match by term: Idiopathic generalized epilepsy	PMID:15048902|PMID:15852375|PMID:16199547|PMID:17696120|PMID:24972929|PMID:25741868|PMID:26423924|PMID:26467025|PMID:26706850|PMID:27066544|PMID:28492532|PMID:28842445|PMID:30552426|PMID:32227660|PMID:32859249|PMID:33083721|PMID:35328054|PMID:36397158
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532
8764373	Cacna1h	calcium voltage-gated channel subunit alpha1 H	gene	DOID:9834	hyperopia		ISO	RGD:68993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
8764414	Luzp2	leucine zipper protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8764414	Luzp2	leucine zipper protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1347178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8764414	Luzp2	leucine zipper protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8764414	Luzp2	leucine zipper protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8764414	Luzp2	leucine zipper protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8764414	Luzp2	leucine zipper protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:0050336	hypophosphatemia		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypophosphatemia	PMID:28492532
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:0050445	X-linked hypophosphatemic rickets		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vitamin D-resistant rickets,  X-linked	PMID:10469281|PMID:16822791|PMID:16861240|PMID:22876375|PMID:24081861|PMID:25525159|PMID:25741868|PMID:25907713|PMID:28492532|PMID:30581818|PMID:36646056|PMID:40794449|PMID:9734595
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:0050699	Dent disease		ISO	RGD:733029	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dent disease | ClinVar Annotator: match by term: Dent's disease	PMID:10906159|PMID:11136179|PMID:15719255|PMID:15895257|PMID:16822791|PMID:18038239|PMID:19076289|PMID:19546586|PMID:22876375|PMID:24081861|PMID:25741868|PMID:25907713|PMID:27889724|PMID:28492532|PMID:31672324|PMID:32683654|PMID:9328929
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:0080204	renal hypoplasia		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:0080353	X-linked recessive hypophosphatemic rickets		ISO	RGD:733029	D	RGD:7240710	20181017	OMIM			
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:0080353	X-linked recessive hypophosphatemic rickets		ISO	RGD:733029	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive	PMID:10469281|PMID:11136179|PMID:12637640|PMID:15086899|PMID:15125028|PMID:15719255|PMID:15814539|PMID:15895257|PMID:16822791|PMID:16861240|PMID:18038239|PMID:19019917|PMID:19076289|PMID:19546586|PMID:19546591|PMID:19657328|PMID:22083641|PMID:22876375|PMID:23566014|PMID:24081861|PMID:25525159|PMID:25741868|PMID:25907713|PMID:27117801|PMID:27889724|PMID:28492532|PMID:28580211|PMID:29058463|PMID:29391272|PMID:29459630|PMID:30581818|PMID:30773290|PMID:31328266|PMID:31672324|PMID:31674016|PMID:32683654|PMID:33532864|PMID:35738466|PMID:36646056|PMID:36726441|PMID:40133227|PMID:40794449|PMID:8559248|PMID:9328929|PMID:9734595
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:0081453	Dent disease 1		ISO	RGD:733029	D	RGD:7240710	20180130	OMIM			
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:0081453	Dent disease 1		ISO	RGD:733029	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DENT DISEASE 1 | ClinVar Annotator: match by term: Nephrolithiasis 2	PMID:19546591|PMID:19673950|PMID:22083641|PMID:22876375|PMID:24081861|PMID:25525159|PMID:25741868|PMID:25907713|PMID:27117801|PMID:28492532|PMID:28580211|PMID:29391272|PMID:31672324|PMID:40794449|PMID:8559248|PMID:9734595
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:0111365	benign familial hematuria		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microscopic hematuria	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:15895257|PMID:16822791|PMID:18184518|PMID:19076289|PMID:19546586|PMID:25741868
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:0111798	X-linked nephrolithiasis type I		ISO	RGD:733029	D	RGD:7240710	20180130	OMIM			
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:0111798	X-linked nephrolithiasis type I		ISO	RGD:733029	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEPHROLITHIASIS, X-LINKED RECESSIVE | ClinVar Annotator: match by term: UROLITHIASIS, X-LINKED RECESSIVE, TYPE 1 | ClinVar Annotator: match by term: X-linked recessive nephrolithiasis with renal failure	PMID:10469281|PMID:11136179|PMID:12637640|PMID:15086899|PMID:15125028|PMID:15719255|PMID:15814539|PMID:15895257|PMID:16822791|PMID:16861240|PMID:18038239|PMID:19019917|PMID:19076289|PMID:19546586|PMID:19546591|PMID:19657328|PMID:22083641|PMID:22876375|PMID:23566014|PMID:24081861|PMID:25525159|PMID:25741868|PMID:25907713|PMID:27117801|PMID:27889724|PMID:28492532|PMID:28580211|PMID:29058463|PMID:29391272|PMID:29459630|PMID:30581818|PMID:30773290|PMID:31328266|PMID:31672324|PMID:31674016|PMID:32683654|PMID:33532864|PMID:35738466|PMID:36646056|PMID:36726441|PMID:40133227|PMID:40794449|PMID:8559248|PMID:9328929|PMID:9734595
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:0111815	low molecular weight proteinuria with hypercalciuric nephrocalcinosis		ISO	RGD:733029	D	RGD:7240710	20180130	OMIM			
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:0111815	low molecular weight proteinuria with hypercalciuric nephrocalcinosis		ISO	RGD:733029	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS | ClinVar Annotator: match by term: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis	PMID:10469281|PMID:11136179|PMID:12637640|PMID:15086899|PMID:15125028|PMID:15719255|PMID:15814539|PMID:15895257|PMID:16822791|PMID:16861240|PMID:18038239|PMID:19019917|PMID:19076289|PMID:19546586|PMID:19546591|PMID:19657328|PMID:22083641|PMID:22876375|PMID:23566014|PMID:24081861|PMID:25525159|PMID:25741868|PMID:25907713|PMID:27117801|PMID:27889724|PMID:28492532|PMID:28580211|PMID:29058463|PMID:29391272|PMID:29459630|PMID:30581818|PMID:30773290|PMID:31328266|PMID:31672324|PMID:31674016|PMID:32683654|PMID:33532864|PMID:35738466|PMID:36646056|PMID:36726441|PMID:40133227|PMID:40794449|PMID:8559248|PMID:9062355|PMID:9328929|PMID:9734595
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:1063	interstitial nephritis		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Interstitial nephritis	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:1115	sarcoma		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:1184	nephrotic syndrome		ISO	RGD:733029	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:15086899|PMID:15895257|PMID:19657328|PMID:22083641|PMID:23566014|PMID:25741868|PMID:25907713|PMID:28492532
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:12176	goiter		ISO	RGD:733029	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16306076
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:12679	nephrocalcinosis		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis | ClinVar Annotator: match by term: nephrocalcinosis	PMID:25741868
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:12712	nephronophthisis		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:15895257|PMID:16822791|PMID:18184518|PMID:19076289|PMID:19546586|PMID:25741868
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:1324	lung cancer		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:1697	ichthyosis		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:1826	epilepsy		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25741868
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:1909	melanoma		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:1920	hyperuricemia		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperuricemia	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:2921	glomerulonephritis		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glomerulonephritis	PMID:25741868|PMID:25907713|PMID:32201916
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:2975	cystic kidney disease		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:3070	high grade glioma		ISO	RGD:733029	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12843258
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:447	renal tubular transport disease		ISO	RGD:2362	D	RGD:9068941	20200609	RGD			PMID:12475763|REF_RGD_ID:628538
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:5041	esophageal cancer		ISO	RGD:733029	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:576	proteinuria		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:15895257|PMID:16822791|PMID:18184518|PMID:19076289|PMID:19546586|PMID:19673950|PMID:25741868|PMID:9259268
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:585	nephrolithiasis		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis	PMID:25741868|PMID:28492532
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:25741868
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:630	genetic disease		ISO	RGD:733029	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10906159|PMID:22876375|PMID:25741868|PMID:25907713|PMID:28492532|PMID:9734595
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:784	chronic kidney disease		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:9000363	Hematuria		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematuria | ClinVar Annotator: match by term: Macroscopic hematuria	PMID:25741868
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:9001276	Failure to Thrive		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets	PMID:10469281|PMID:16822791|PMID:16861240|PMID:22876375|PMID:24081861|PMID:25525159|PMID:25741868|PMID:25907713|PMID:28492532|PMID:30581818|PMID:36646056|PMID:40794449|PMID:9734595
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:9001533	Flatulence		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Flatulence	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:9001738	Hypercalciuria		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercalciuria | ClinVar Annotator: match by term: hypercalciuria	PMID:22876375|PMID:25741868|PMID:25907713|PMID:28492532|PMID:38002082
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:9001961	Hyperkalemia		ISO	RGD:733029	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hyperkalemia	PMID:25741868
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:9002207	Renal Aminoacidurias		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aminoaciduria	PMID:22876375|PMID:25907713|PMID:28492532|PMID:38002082
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:9004898	Jaundice		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:15895257|PMID:16822791|PMID:18184518|PMID:19076289|PMID:19546586|PMID:25741868
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:9005274	Polyuria		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyuria	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:9006727	Polydipsia		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydipsia	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733029	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:12637640|PMID:15086899|PMID:15814539|PMID:15895257|PMID:16822791|PMID:19546591|PMID:22876375|PMID:24081861|PMID:25741868|PMID:25907713|PMID:28492532|PMID:28580211|PMID:31672324|PMID:31674016|PMID:35738466|PMID:36726441|PMID:9328929
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:9007389	Acute Tubulointerstitial Nephritis		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute tubulointerstitial nephritis	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:9007505	Familial Hypophosphatemic Rickets		ISO	RGD:733029	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:9007661	Dwarfism		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:9007740	Familial Hypophosphatemia		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperphosphaturia	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:9009050	Hypocalcemia		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	PMID:25741868
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:9565	dextrocardia		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dextrocardia	PMID:15895257|PMID:16822791|PMID:18184518|PMID:19076289|PMID:19546586|PMID:25741868
8764453	Clcn5	Cl-/H+ antiporter 5	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	
8764475	Chmp6	charged multivesicular body protein 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8764475	Chmp6	charged multivesicular body protein 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8764475	Chmp6	charged multivesicular body protein 6	gene	DOID:1324	lung cancer		ISO	RGD:1606234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8764475	Chmp6	charged multivesicular body protein 6	gene	DOID:3275	thymoma		ISO	RGD:1606234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8764475	Chmp6	charged multivesicular body protein 6	gene	DOID:4362	cervical cancer		ISO	RGD:1606234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8764475	Chmp6	charged multivesicular body protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764475	Chmp6	charged multivesicular body protein 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8764487	Fgf3	fibroblast growth factor 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1346722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25432227|PMID:25741868|PMID:31336982|PMID:33552643|PMID:34238775
8764487	Fgf3	fibroblast growth factor 3	gene	DOID:630	genetic disease		ISO	RGD:1346722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8764487	Fgf3	fibroblast growth factor 3	gene	DOID:674	cleft palate		ISO	RGD:1346722	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17963255
8764487	Fgf3	fibroblast growth factor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346722	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25822088
8764487	Fgf3	fibroblast growth factor 3	gene	DOID:9000955	Acute Otitis Media		ISO	RGD:732330	D	RGD:9068941	20210611	RGD		mRNA:decreased expression:middle ear (mouse)	PMID:21889218|REF_RGD_ID:127284853
8764487	Fgf3	fibroblast growth factor 3	gene	DOID:9001349	Stomatognathic Diseases		ISO	RGD:1346722	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17656375
8764487	Fgf3	fibroblast growth factor 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1346722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: hearing loss	PMID:25432227|PMID:25741868|PMID:31336982|PMID:33552643|PMID:34238775
8764487	Fgf3	fibroblast growth factor 3	gene	DOID:9005439	Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia		ISO	RGD:1346722	D	RGD:7240710	20180130	OMIM			
8764487	Fgf3	fibroblast growth factor 3	gene	DOID:9005439	Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia		ISO	RGD:1346722	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS WITH LAMM | ClinVar Annotator: match by term: DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA | ClinVar Annotator: match by term: FGF3-related disorder	PMID:17236138|PMID:18435799|PMID:21306635|PMID:21480479|PMID:22993869|PMID:25741868|PMID:28492532|PMID:36934406
8764487	Fgf3	fibroblast growth factor 3	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1346722	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17656375
8764487	Fgf3	fibroblast growth factor 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1346722	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21936542
8764487	Fgf3	fibroblast growth factor 3	gene	DOID:9296	cleft lip		ISO	RGD:1346722	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17963255
8764499	Aspscr1	ASPSCR1 tether for SLC2A4, UBX domain containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8764499	Aspscr1	ASPSCR1 tether for SLC2A4, UBX domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8764499	Aspscr1	ASPSCR1 tether for SLC2A4, UBX domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:1344232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8764499	Aspscr1	ASPSCR1 tether for SLC2A4, UBX domain containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8764499	Aspscr1	ASPSCR1 tether for SLC2A4, UBX domain containing	gene	DOID:1909	melanoma		ISO	RGD:1344232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8764499	Aspscr1	ASPSCR1 tether for SLC2A4, UBX domain containing	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8764499	Aspscr1	ASPSCR1 tether for SLC2A4, UBX domain containing	gene	DOID:3275	thymoma		ISO	RGD:1344232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8764499	Aspscr1	ASPSCR1 tether for SLC2A4, UBX domain containing	gene	DOID:4239	alveolar soft part sarcoma		ISO	RGD:1344232	D	RGD:7240710	20180130	OMIM			
8764499	Aspscr1	ASPSCR1 tether for SLC2A4, UBX domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1344232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8764499	Aspscr1	ASPSCR1 tether for SLC2A4, UBX domain containing	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8764499	Aspscr1	ASPSCR1 tether for SLC2A4, UBX domain containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1344232	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8764499	Aspscr1	ASPSCR1 tether for SLC2A4, UBX domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764499	Aspscr1	ASPSCR1 tether for SLC2A4, UBX domain containing	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8764499	Aspscr1	ASPSCR1 tether for SLC2A4, UBX domain containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8764499	Aspscr1	ASPSCR1 tether for SLC2A4, UBX domain containing	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1344232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8764499	Aspscr1	ASPSCR1 tether for SLC2A4, UBX domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8764499	Aspscr1	ASPSCR1 tether for SLC2A4, UBX domain containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8764522	Prss53	serine protease 53	gene	DOID:1115	sarcoma		ISO	RGD:2860194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8764522	Prss53	serine protease 53	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2860194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8764522	Prss53	serine protease 53	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:2860194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8764522	Prss53	serine protease 53	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2860194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764522	Prss53	serine protease 53	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2860194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8764522	Prss53	serine protease 53	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2860194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8764522	Prss53	serine protease 53	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2860194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8764564	Rtn4r	reticulon 4 receptor	gene	DOID:5419	schizophrenia		ISO	RGD:1607007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: RTN4R-related condition | ClinVar Annotator: match by term: SCHIZOPHRENIA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Schizophrenia	PMID:15532024|PMID:19052207|PMID:25741868|PMID:28892071
8764564	Rtn4r	reticulon 4 receptor	gene	DOID:5419	schizophrenia	susceptibility	ISO	RGD:1607007	D	RGD:7240710	20230505	OMIM			
8764564	Rtn4r	reticulon 4 receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764573	Anp32b	acidic nuclear phosphoprotein 32 family member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8764573	Anp32b	acidic nuclear phosphoprotein 32 family member B	gene	DOID:1115	sarcoma		ISO	RGD:731659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8764573	Anp32b	acidic nuclear phosphoprotein 32 family member B	gene	DOID:4362	cervical cancer		ISO	RGD:731659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8764573	Anp32b	acidic nuclear phosphoprotein 32 family member B	gene	DOID:5041	esophageal cancer		ISO	RGD:731659	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8764573	Anp32b	acidic nuclear phosphoprotein 32 family member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764573	Anp32b	acidic nuclear phosphoprotein 32 family member B	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:621285	D	RGD:9068941	20200609	RGD			PMID:25034417|REF_RGD_ID:10401137
8764586	Anxa3	annexin A3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8764586	Anxa3	annexin A3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8764586	Anxa3	annexin A3	gene	DOID:1324	lung cancer		ISO	RGD:735865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8764586	Anxa3	annexin A3	gene	DOID:1686	glaucoma		ISO	RGD:2119	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina	PMID:18055803|REF_RGD_ID:2289160
8764586	Anxa3	annexin A3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8764586	Anxa3	annexin A3	gene	DOID:4362	cervical cancer		ISO	RGD:735865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8764586	Anxa3	annexin A3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8764586	Anxa3	annexin A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764586	Anxa3	annexin A3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:735865	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22446963
8764586	Anxa3	annexin A3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735865	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8764586	Anxa3	annexin A3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735865	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8764586	Anxa3	annexin A3	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:735865	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21435174
8764586	Anxa3	annexin A3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8764586	Anxa3	annexin A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8764586	Anxa3	annexin A3	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:735865	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22446963
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:0060320	inguinal hernia		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:1115	sarcoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:11830	myopia		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:1324	lung cancer		ISO	RGD:1317427	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:1682	congenital heart disease		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:1909	melanoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:3275	thymoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317427	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317427	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1317427	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:9008163	Chronic Hepatitis B	susceptibility	ISO	RGD:1317427	D	RGD:9068941	20201211	RGD		DNA:SNP:exon: p.Ser1254Asn (human)	PMID:22610944|REF_RGD_ID:40886317
8764609	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8764665	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:1909	melanoma		ISO	RGD:1314547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8764665	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8764665	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:3275	thymoma		ISO	RGD:1314547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8764665	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:4362	cervical cancer		ISO	RGD:1314547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8764665	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8764665	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1314547	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8764665	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764665	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8764665	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8764665	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8764665	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8764683	Eef1e1	eukaryotic translation elongation factor 1 epsilon 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322308	D	RGD:9068941	20200609	RGD		protein:decreased expression:stomach:	PMID:21789020|REF_RGD_ID:10401218
8764683	Eef1e1	eukaryotic translation elongation factor 1 epsilon 1	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1322308	D	RGD:9068941	20200609	RGD		protein:decreased expression:urothelium:	PMID:24917520|REF_RGD_ID:10401219
8764683	Eef1e1	eukaryotic translation elongation factor 1 epsilon 1	gene	DOID:3911	progeria		ISO	RGD:1322309	D	RGD:9068941	20200609	RGD			PMID:20726853|REF_RGD_ID:10401221
8764683	Eef1e1	eukaryotic translation elongation factor 1 epsilon 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322308	D	RGD:9068941	20200609	RGD		protein:decreased expression:colorectum:	PMID:21789020|REF_RGD_ID:10401218
8764700	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8764700	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8764700	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:0060058	lymphoma		ISO	RGD:1312152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8764700	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:10763	hypertension		ISO	RGD:1312152	D	RGD:9068941	20200609	RGD			PMID:19421330|REF_RGD_ID:2314812
8764700	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8764700	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1312152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8764700	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1312152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8764700	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:3275	thymoma		ISO	RGD:1312152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8764700	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312152	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8764700	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1312152	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8764700	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312152	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma	PMID:26614431
8764700	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764700	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8764700	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8764700	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1312152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19838193
8764736	Klhl35	kelch like family member 35	gene	DOID:10534	stomach cancer		ISO	RGD:1603871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8764736	Klhl35	kelch like family member 35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764736	Klhl35	kelch like family member 35	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8764765	Denr	density regulated re-initiation and release factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1351149	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8764765	Denr	density regulated re-initiation and release factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8764765	Denr	density regulated re-initiation and release factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8764778	Mis12	MIS12 kinetochore complex component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8764778	Mis12	MIS12 kinetochore complex component	gene	DOID:4362	cervical cancer		ISO	RGD:1346036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8764778	Mis12	MIS12 kinetochore complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764778	Mis12	MIS12 kinetochore complex component	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1346036	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8764787	Lrriq3	leucine rich repeats and IQ motif containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764787	Lrriq3	leucine rich repeats and IQ motif containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8764834	Rasgrf2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:69460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8764834	Rasgrf2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:69460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8764834	Rasgrf2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:69460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8764834	Rasgrf2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:69460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8764834	Rasgrf2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:2394	ovarian cancer		ISO	RGD:69460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8764834	Rasgrf2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:305	carcinoma		ISO	RGD:69460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12606953
8764834	Rasgrf2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8764834	Rasgrf2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:69460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12606953
8764834	Rasgrf2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:69460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12606953
8764834	Rasgrf2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8764834	Rasgrf2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:69460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8764834	Rasgrf2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:9256	colorectal cancer		ISO	RGD:69460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8764869	Upp1	uridine phosphorylase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8764869	Upp1	uridine phosphorylase 1	gene	DOID:0060496	respiratory allergy		ISO	RGD:1313669	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24211530
8764869	Upp1	uridine phosphorylase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8764869	Upp1	uridine phosphorylase 1	gene	DOID:1115	sarcoma		ISO	RGD:1313669	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8764869	Upp1	uridine phosphorylase 1	gene	DOID:1324	lung cancer		ISO	RGD:1313669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8764869	Upp1	uridine phosphorylase 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1313669	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8764869	Upp1	uridine phosphorylase 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1313669	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
8764869	Upp1	uridine phosphorylase 1	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1305566	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain (rat)	PMID:18457515|REF_RGD_ID:2317094
8764869	Upp1	uridine phosphorylase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764869	Upp1	uridine phosphorylase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8764869	Upp1	uridine phosphorylase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8764869	Upp1	uridine phosphorylase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8764891	Cbln2	cerebellin 2 precursor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8764891	Cbln2	cerebellin 2 precursor	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1320203	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:23502781
8764891	Cbln2	cerebellin 2 precursor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:0050610	oral cavity carcinoma in situ	disease_progression	ISO	RGD:1317446	D	RGD:9068941	20200609	RGD			PMID:27499128|REF_RGD_ID:28867233
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:0060058	lymphoma		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:0080600	COVID-19		ISO	RGD:1317446	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:0080909	castration-resistant prostate carcinoma	treatment	ISO	RGD:1317446	D	RGD:9068941	20200609	RGD			PMID:28498618|REF_RGD_ID:28867238
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:10534	stomach cancer		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:10907	microcephaly		ISO	RGD:1317446	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:1324	lung cancer		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1317446	D	RGD:9068941	20200609	RGD			PMID:31140425|PMID:31198978|REF_RGD_ID:28867230|REF_RGD_ID:28867231
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:1793	pancreatic cancer		ISO	RGD:1317446	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas	PMID:26045769|REF_RGD_ID:11058437
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1317446	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:1909	melanoma	disease_progression	ISO	RGD:1317446	D	RGD:9068941	20200609	RGD			PMID:27237743|REF_RGD_ID:28867234
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:3275	thymoma		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1317446	D	RGD:9068941	20200609	RGD			PMID:17079454|REF_RGD_ID:28867236
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1317446	D	RGD:9068941	20200611	RGD			PMID:32226507|REF_RGD_ID:28912743
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:4362	cervical cancer		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:4961	bone marrow disease		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1317446	D	RGD:9068941	20200611	RGD			PMID:31933938|REF_RGD_ID:28912742
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1317446	D	RGD:9068941	20200609	RGD			PMID:30653265|REF_RGD_ID:28867240
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:9005616	Micrognathism		ISO	RGD:1317446	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:9007661	Dwarfism		ISO	RGD:1317446	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:9256	colorectal cancer		ISO	RGD:1317446	D	RGD:9068941	20200609	RGD		mRNA:increased expression:colorectum	PMID:19878654|REF_RGD_ID:28867241
8764915	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1317446	D	RGD:9068941	20200609	RGD			PMID:24247253|REF_RGD_ID:28867244
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:21698055|REF_RGD_ID:6482785
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:0050851	glomerulosclerosis		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:16213192|REF_RGD_ID:7248790
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:0051061	stroke		ISO	RGD:1321810	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21356620
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:0051061	stroke		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:19644070|REF_RGD_ID:6482786
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22112193|REF_RGD_ID:6482771
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:0080379	nephrotic syndrome type 2	disease_progression	ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:9853251|REF_RGD_ID:7248793
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1310734	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma	PMID:8692015|REF_RGD_ID:7257517
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:15292677|REF_RGD_ID:7248795
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:12554	hemolytic-uremic syndrome	severity	ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human)	PMID:10873870|REF_RGD_ID:7257516
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:13001	carotid stenosis	severity	ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:22075154|REF_RGD_ID:6482772
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:1307	dementia		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:16278861|REF_RGD_ID:6482779
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:1936	atherosclerosis		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, type 2;DNA:missense mutation: :994G>T(human)	PMID:12590019|REF_RGD_ID:7248796
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:1936	atherosclerosis		ISO	RGD:1321811	D	RGD:9068941	20200609	RGD			PMID:21970837|REF_RGD_ID:6482784
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:2377	multiple sclerosis		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:22246459|REF_RGD_ID:6482783
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:2841	asthma		ISO	RGD:1321810	D	RGD:9068941	20231109	CTD		CTD Direct Evidence: marker/mechanism	PMID:10733466
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:2841	asthma		ISO	RGD:1321810	D	RGD:9068941	20231109	RGD			PMID:10733466|REF_RGD_ID:1581025
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:2921	glomerulonephritis		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:8730430|REF_RGD_ID:7248794
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:2986	IgA glomerulonephritis	disease_progression	ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:	PMID:12220450|REF_RGD_ID:7257515
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:3393	coronary artery disease	disease_progression	ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:17070179|REF_RGD_ID:6482777
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.A379V (human)	PMID:15115767|REF_RGD_ID:6482781
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:3407	carotid artery disease	severity	ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:22499993|REF_RGD_ID:6482769
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:3526	cerebral infarction		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:18201705|REF_RGD_ID:6482775
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:4362	cervical cancer		ISO	RGD:1321810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:576	proteinuria		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		DNA:mutation: :994G>T(human)	PMID:10430976|REF_RGD_ID:7248792
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:5844	myocardial infarction		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:19644070|REF_RGD_ID:6482786
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:6000	congestive heart failure		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:16952920|REF_RGD_ID:6482778
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1321810	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8675689
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:17326817|REF_RGD_ID:6482776
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:11807372|REF_RGD_ID:1581024
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:783	end stage renal disease		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		plasma:increased expression:plasma	PMID:16421163|REF_RGD_ID:7248787
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:9000204	Platelet-Activating Factor Acetylhydrolase Deficiency		ISO	RGD:1321810	D	RGD:7240710	20231004	OMIM			
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:9000204	Platelet-Activating Factor Acetylhydrolase Deficiency		ISO	RGD:1321810	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PLA2G7-related condition | ClinVar Annotator: match by term: PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY | ClinVar Annotator: match by term: Platelet-activating factor acetylhydrolase deficiency	PMID:10733466|PMID:25741868|PMID:28406212
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:9000528	Coronary Disease		ISO	RGD:1321810	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21356620
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:9000528	Coronary Disease		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:15699277|REF_RGD_ID:6482780
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:9001686	Acute Coronary Syndrome	disease_progression	ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:22024276|REF_RGD_ID:6482773
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:9002850	Immediate Hypersensitivity		ISO	RGD:1321810	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10733466
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:9005372	Inflammation		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		associated with Cerebral Infarction;protein:increased expression:serum	PMID:19886071|REF_RGD_ID:6482774
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:9005930	Endotoxemia		ISO	RGD:1310734	D	RGD:9068941	20200609	RGD		protein:increased expression: :	PMID:10748027|REF_RGD_ID:7248791
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:9006332	Vascular Calcification		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		DNA:SNPs:cds, intron:multiple	PMID:22340269|REF_RGD_ID:6482770
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1310734	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:21172452|REF_RGD_ID:6482748
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8764937	Pla2g7	phospholipase A2 group VII	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:22399516|REF_RGD_ID:6482782
8764969	Ccne1	cyclin E1	gene	DOID:0050902	medulloblastoma		ISO	RGD:736488	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
8764969	Ccne1	cyclin E1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736488	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8764969	Ccne1	cyclin E1	gene	DOID:10534	stomach cancer		ISO	RGD:736488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8764969	Ccne1	cyclin E1	gene	DOID:10763	hypertension		ISO	RGD:2294	D	RGD:9068941	20200609	RGD		protein:increased expression:vascular associated smooth muscle cell	PMID:12847112|REF_RGD_ID:2289296
8764969	Ccne1	cyclin E1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8764969	Ccne1	cyclin E1	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:736488	D	RGD:9068941	20200609	RGD		protein:decreased expression:urinary bladder	PMID:18047954|REF_RGD_ID:2296035
8764969	Ccne1	cyclin E1	gene	DOID:11054	urinary bladder cancer	severity	ISO	RGD:736488	D	RGD:9068941	20200609	RGD		protein:decreased expression:urinary bladder	PMID:16739882|REF_RGD_ID:2289267
8764969	Ccne1	cyclin E1	gene	DOID:1324	lung cancer		ISO	RGD:736488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8764969	Ccne1	cyclin E1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:736488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8764969	Ccne1	cyclin E1	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:736488	D	RGD:9068941	20200609	RGD			PMID:17483245|REF_RGD_ID:2289231
8764969	Ccne1	cyclin E1	gene	DOID:1909	melanoma		ISO	RGD:736488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8764969	Ccne1	cyclin E1	gene	DOID:2237	hepatitis		ISO	RGD:736489	D	RGD:9068941	20220728	RGD			PMID:29551768|REF_RGD_ID:153297807
8764969	Ccne1	cyclin E1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8764969	Ccne1	cyclin E1	gene	DOID:3275	thymoma		ISO	RGD:736488	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8764969	Ccne1	cyclin E1	gene	DOID:3458	breast adenocarcinoma		ISO	RGD:736488	D	RGD:9068941	20200609	RGD		DNA:amplification	PMID:18089785|REF_RGD_ID:2289225
8764969	Ccne1	cyclin E1	gene	DOID:3571	liver cancer	disease_progression	ISO	RGD:2294	D	RGD:9068941	20220224	RGD		protein:increased expression:liver (rat)	PMID:11797828|REF_RGD_ID:151356973
8764969	Ccne1	cyclin E1	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:736488	D	RGD:9068941	20200609	RGD			PMID:11212263|REF_RGD_ID:13673913
8764969	Ccne1	cyclin E1	gene	DOID:4001	ovarian carcinoma		ISO	RGD:2294	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:12713563|REF_RGD_ID:2289335
8764969	Ccne1	cyclin E1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:736488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8764969	Ccne1	cyclin E1	gene	DOID:4362	cervical cancer		ISO	RGD:736488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8764969	Ccne1	cyclin E1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:736488	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney	PMID:17726548|REF_RGD_ID:2289228
8764969	Ccne1	cyclin E1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736488	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8764969	Ccne1	cyclin E1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736488	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29464035
8764969	Ccne1	cyclin E1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764969	Ccne1	cyclin E1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736488	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8764969	Ccne1	cyclin E1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2294	D	RGD:9068941	20200609	RGD			PMID:17196522|REF_RGD_ID:2289277
8764969	Ccne1	cyclin E1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736488	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12029619|PMID:22634754
8764969	Ccne1	cyclin E1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736489	D	RGD:9068941	20220728	RGD			PMID:29551768|REF_RGD_ID:153297807
8764969	Ccne1	cyclin E1	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:736489	D	RGD:9068941	20210702	RGD			PMID:28100771|REF_RGD_ID:127285675
8764969	Ccne1	cyclin E1	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:736489	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:prostate gland	PMID:14968434|REF_RGD_ID:2289283
8764969	Ccne1	cyclin E1	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:736488	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:18301453|REF_RGD_ID:2293574
8764969	Ccne1	cyclin E1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2294	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:16759516|REF_RGD_ID:2289281
8764969	Ccne1	cyclin E1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:736488	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Transitional Cell;protein:decreased expression	PMID:16949911|REF_RGD_ID:2289266
8764969	Ccne1	cyclin E1	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:736488	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:testis	PMID:11358847|REF_RGD_ID:2296041
8764969	Ccne1	cyclin E1	gene	DOID:9000918	Disease Progression		ISO	RGD:736488	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19385967
8764969	Ccne1	cyclin E1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:736488	D	RGD:9068941	20200609	RGD		associated with non-small cell lung carcinoma	PMID:11212263|REF_RGD_ID:13673913
8764969	Ccne1	cyclin E1	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:736489	D	RGD:9068941	20200609	RGD		protein:altered processing	PMID:17671189|REF_RGD_ID:2289229
8764969	Ccne1	cyclin E1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2294	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:17825795|REF_RGD_ID:2289273
8764969	Ccne1	cyclin E1	gene	DOID:9002304	Prostatic Neoplasms	disease_progression	ISO	RGD:736489	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:prostate gland	PMID:14968434|REF_RGD_ID:2289283
8764969	Ccne1	cyclin E1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:736488	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21397856
8764969	Ccne1	cyclin E1	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:736488	D	RGD:9068941	20200609	RGD		protein:alternative forms, increased expression:ovary	PMID:17647260|REF_RGD_ID:2296042
8764969	Ccne1	cyclin E1	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:736488	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:16116079|REF_RGD_ID:2289287
8764969	Ccne1	cyclin E1	gene	DOID:9002801	Recurrence		ISO	RGD:736488	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19385967
8764969	Ccne1	cyclin E1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:2294	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:colon	PMID:14614307|REF_RGD_ID:2289293
8764969	Ccne1	cyclin E1	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:736489	D	RGD:9068941	20200609	RGD		protein:increased expression:cervix, epithelial cell	PMID:17308103|REF_RGD_ID:2289265
8764969	Ccne1	cyclin E1	gene	DOID:9003373	Uterine Cervical Neoplasms	disease_progression	ISO	RGD:736488	D	RGD:9068941	20200609	RGD		protein:increased expression:cervix	PMID:16538218|REF_RGD_ID:2289268
8764969	Ccne1	cyclin E1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2294	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:17584601|REF_RGD_ID:2289275
8764969	Ccne1	cyclin E1	gene	DOID:9004265	Endometrioid Carcinomas		ISO	RGD:736488	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:17483252|REF_RGD_ID:2289230
8764969	Ccne1	cyclin E1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:2294	D	RGD:9068941	20200609	RGD			PMID:12602925|REF_RGD_ID:2289337
8764969	Ccne1	cyclin E1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:2294	D	RGD:9068941	20200609	RGD		protein:decreased expression:mammary gland	PMID:12649181|REF_RGD_ID:2289336
8764969	Ccne1	cyclin E1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8764969	Ccne1	cyclin E1	gene	DOID:9007170	Bowen's Disease		ISO	RGD:736488	D	RGD:9068941	20200609	RGD		associated with Vulvar Neoplasms;mRNA:increased expression:vulva	PMID:17471573|REF_RGD_ID:2289255
8764969	Ccne1	cyclin E1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736488	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19385967|PMID:23624423
8764969	Ccne1	cyclin E1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736488	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8764986	Wipf2	WAS/WASL interacting protein family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8764986	Wipf2	WAS/WASL interacting protein family member 2	gene	DOID:1115	sarcoma		ISO	RGD:1603178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8764986	Wipf2	WAS/WASL interacting protein family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1603178	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8764986	Wipf2	WAS/WASL interacting protein family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764998	Tesk1	testis associated actin remodelling kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:732889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8764998	Tesk1	testis associated actin remodelling kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8764998	Tesk1	testis associated actin remodelling kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:732889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8764998	Tesk1	testis associated actin remodelling kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8764998	Tesk1	testis associated actin remodelling kinase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:732889	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8764998	Tesk1	testis associated actin remodelling kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:0050073	invasive aspergillosis		ISO	RGD:733265	D	RGD:9068941	20200609	RGD			PMID:24054721|REF_RGD_ID:10450528
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:16199547|PMID:20729109|PMID:28492532|PMID:39052144|PMID:8070813|PMID:9585602
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:0050855	renal fibrosis		ISO	RGD:1350492	D	RGD:9068941	20200609	RGD		associated with liver transplant;protein:increased expression:kidney:	PMID:22568654|REF_RGD_ID:11040697
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:0050855	renal fibrosis	treatment	ISO	RGD:620574	D	RGD:9068941	20200609	RGD			PMID:22568654|REF_RGD_ID:11040697
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:0070195	X-linked chronic granulomatous disease		ISO	RGD:1350492	D	RGD:7240710	20180130	OMIM			
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:0070195	X-linked chronic granulomatous disease		ISO	RGD:1350492	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CYBB-related condition | ClinVar Annotator: match by term: CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED | ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked | ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED | ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT | ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked | ClinVar Annotator: match by term: X-linked Chronic Granulomatous Disease | ClinVar Annotator: match by term: X-linked chronic granulomatous disease | ClinVar Annotator: match by term: granulomatous disease, chronic, X-linked	PMID:10068684|PMID:10089913|PMID:10627478|PMID:10828042|PMID:10914676|PMID:11112388|PMID:11162142|PMID:11435314|PMID:11462241|PMID:12589359|PMID:14697745|PMID:15082894|PMID:1520880|PMID:15454837|PMID:16199547|PMID:16569599|PMID:1710153|PMID:17576211|PMID:17576681|PMID:18322777|PMID:18546332|PMID:18708296|PMID:18762975|PMID:19410294|PMID:20228266|PMID:20724480|PMID:20729109|PMID:21190454|PMID:21604087|PMID:21659519|PMID:22125116|PMID:22540226|PMID:22562447|PMID:22876374|PMID:22929960|PMID:23910690|PMID:23956436|PMID:24943880|PMID:24999735|PMID:25252997|PMID:25525159|PMID:2556453|PMID:25741868|PMID:26185101|PMID:26453586|PMID:26936803|PMID:27701760|PMID:27853979|PMID:27966181|PMID:27980538|PMID:28168067|PMID:28251166|PMID:28492532|PMID:29018441|PMID:29560547|PMID:29702544|PMID:30237823|PMID:30290665|PMID:30470980|PMID:30506560|PMID:30633606|PMID:30716179|PMID:30936962|PMID:31456102|PMID:31813112|PMID:32040803|PMID:33629196|PMID:33717137|PMID:33963972|PMID:34134972|PMID:34462840|PMID:34680870|PMID:35140711|PMID:35729272|PMID:35874699|PMID:35945378|PMID:39052144|PMID:7713925|PMID:7907031|PMID:8070813|PMID:8101486|PMID:8615831|PMID:8634410|PMID:8961628|PMID:9454688|PMID:9536098|PMID:9585602|PMID:9667376|PMID:9794433|PMID:9856476|PMID:9888386
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:0070195	X-linked chronic granulomatous disease	treatment	ISO	RGD:1350492	D	RGD:9068941	20200609	RGD			PMID:12804147|REF_RGD_ID:11040567
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:0112000	immunodeficiency 34		ISO	RGD:1350492	D	RGD:7240710	20180130	OMIM			
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:0112000	immunodeficiency 34		ISO	RGD:1350492	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 34 | ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	PMID:11162142|PMID:15082894|PMID:20729109|PMID:21278736|PMID:25741868
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:10534	stomach cancer		ISO	RGD:1350492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:10763	hypertension		ISO	RGD:1350492	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:16685210|PMID:21593737|PMID:27659729|PMID:27847271|PMID:32147540|PMID:32165127
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:10763	hypertension		ISO	RGD:620574	D	RGD:9068941	20200609	RGD		Protein:increased expression:brain	PMID:12472782|REF_RGD_ID:1599685
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:10825	essential hypertension		ISO	RGD:1350492	D	RGD:9068941	20221110	CTD		CTD Direct Evidence: marker/mechanism	PMID:34453990
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:1909	melanoma		ISO	RGD:1350492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:3265	chronic granulomatous disease		ISO	RGD:1350492	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic granulomatous disease	PMID:1520880|PMID:18546332|PMID:20729109|PMID:24276928|PMID:25741868|PMID:27701760|PMID:28492532|PMID:28574339|PMID:29560547|PMID:35140711|PMID:35874699|PMID:8634410|PMID:9585602
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:3454	brain infarction		ISO	RGD:1350492	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19417757
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:446	primary hyperaldosteronism		ISO	RGD:620574	D	RGD:9068941	20200609	RGD		Protein:increased expression:heart ventricle	PMID:16373592|REF_RGD_ID:1599681
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1350492	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:552	pneumonia		ISO	RGD:1350492	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:25741868
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:557	kidney disease		ISO	RGD:1350492	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20116427
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:576	proteinuria		ISO	RGD:1350492	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20116427
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:5844	myocardial infarction		ISO	RGD:620574	D	RGD:9068941	20200609	RGD		mRNA:increase expression:ventricle myocardium	PMID:11243862|REF_RGD_ID:1599690
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:6000	congestive heart failure		ISO	RGD:1350492	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20304815
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:630	genetic disease		ISO	RGD:1350492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:1320378|PMID:20724480|PMID:20729109
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:6432	pulmonary hypertension		ISO	RGD:733265	D	RGD:9068941	20200609	RGD		associated with Anoxia	PMID:18952568|REF_RGD_ID:4762683
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:620574	D	RGD:9068941	20200609	RGD			PMID:18424632|REF_RGD_ID:4773907
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1350492	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:24313545
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:783	end stage renal disease		ISO	RGD:1350492	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19420110
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:783	end stage renal disease		ISO	RGD:620574	D	RGD:9068941	20200609	RGD			PMID:15550752|REF_RGD_ID:1599682
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:733265	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:microglia:	PMID:20679217|REF_RGD_ID:11040629
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:620574	D	RGD:9068941	20200609	RGD		Protein:increased expression:cerebral cortex	PMID:16671452|REF_RGD_ID:1599680
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:620574	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebral vessel:	PMID:12142572|REF_RGD_ID:11040582
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350492	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9002211	Hyperalgesia		ISO	RGD:733265	D	RGD:9068941	20200609	RGD		associated with Spinal Cord Injuries;	PMID:20679217|REF_RGD_ID:11040629
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9002514	Neointima	treatment	ISO	RGD:620574	D	RGD:9068941	20200609	RGD			PMID:20485380|REF_RGD_ID:11040762
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9002720	Splenomegaly		ISO	RGD:1350492	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1350492	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19193722
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620574	D	RGD:9068941	20200609	RGD		Protein:increase expression:brain	PMID:16766636|REF_RGD_ID:1599677
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9004150	Lymphadenopathy		ISO	RGD:1350492	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lymphadenopathy	PMID:25741868
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9005372	Inflammation		ISO	RGD:733265	D	RGD:9068941	20200609	RGD			PMID:19234224|REF_RGD_ID:11040576
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1350492	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19478208
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620574	D	RGD:9068941	20200609	RGD		mRNA:increased expression:aorta	PMID:11157681|REF_RGD_ID:1599691
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620574	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebral cortex;associated with reperfusion injury	PMID:15148062|REF_RGD_ID:1599683
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9006302	Binge Drinking		ISO	RGD:620574	D	RGD:9068941	20250130	RGD		mRNA:increased expression:frontal cortex	PMID:23867237|REF_RGD_ID:597538460
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9006779	Discoid Lupus Erythematosus		ISO	RGD:1350492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Discoid lupus erythematosus	PMID:25741868
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:20729109|PMID:25741868|PMID:28492532|PMID:9585602
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9007073	Cough		ISO	RGD:1350492	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cough	PMID:25741868
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1350492	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19207477
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9008114	Helicobacter Infections	disease_progression	ISO	RGD:1350492	D	RGD:9068941	20210115	RGD		mRNA,protein:increased expression:mucosa of stomach (human)	PMID:27048452|REF_RGD_ID:40924640
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9351	diabetes mellitus		ISO	RGD:1350492	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23723366
8765013	Cybb	cytochrome b-245 beta chain	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1350492	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Primary ciliary Dyskinesia	PMID:28492532
8765030	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8765030	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:0070330	multiple mitochondrial dysfunctions syndrome		ISO	RGD:1606941	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8765030	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:0080135	multiple mitochondrial dysfunctions syndrome 3		ISO	RGD:1606941	D	RGD:7240710	20180130	OMIM			
8765030	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:0080135	multiple mitochondrial dysfunctions syndrome 3		ISO	RGD:1606941	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 | ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3	PMID:17576681|PMID:23462291|PMID:24033266|PMID:25609768|PMID:25741868|PMID:25971455|PMID:27785568|PMID:28492532|PMID:28671726|PMID:32348839|PMID:38129218|PMID:9536098
8765030	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:0110819	hereditary spastic paraplegia 74		ISO	RGD:1606941	D	RGD:7240710	20180130	OMIM			
8765030	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:0110819	hereditary spastic paraplegia 74		ISO	RGD:1606941	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 74 | ClinVar Annotator: match by term: Spastic paraplegia 74, autosomal recessive	PMID:16199547|PMID:17576681|PMID:23462291|PMID:25609768|PMID:25741868|PMID:25971455|PMID:27785568|PMID:28492532|PMID:28671726|PMID:28803783|PMID:29353736|PMID:30258207|PMID:32180488|PMID:32348839|PMID:34906502|PMID:9536098
8765030	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:10907	microcephaly		ISO	RGD:1606941	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8765030	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8765030	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:4362	cervical cancer		ISO	RGD:1606941	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8765030	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8765030	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:630	genetic disease		ISO	RGD:1606941	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:28671726
8765030	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8765030	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8765030	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8765042	Scoc	short coiled-coil protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8765042	Scoc	short coiled-coil protein	gene	DOID:3070	high grade glioma		ISO	RGD:1323537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8765042	Scoc	short coiled-coil protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765053	Zscan5b	zinc finger and SCAN domain containing 5B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2293895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765069	Unc5c	unc-5 netrin receptor C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8765069	Unc5c	unc-5 netrin receptor C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765069	Unc5c	unc-5 netrin receptor C	gene	DOID:10534	stomach cancer		ISO	RGD:1347353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8765069	Unc5c	unc-5 netrin receptor C	gene	DOID:1115	sarcoma		ISO	RGD:1347353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8765069	Unc5c	unc-5 netrin receptor C	gene	DOID:1324	lung cancer		ISO	RGD:1347353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8765069	Unc5c	unc-5 netrin receptor C	gene	DOID:1909	melanoma		ISO	RGD:1347353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8765069	Unc5c	unc-5 netrin receptor C	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1347353	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21600761
8765069	Unc5c	unc-5 netrin receptor C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765069	Unc5c	unc-5 netrin receptor C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8765069	Unc5c	unc-5 netrin receptor C	gene	DOID:9256	colorectal cancer		ISO	RGD:1347353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8765089	Rhex	regulator of hemoglobinization and erythroid cell expansion	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765089	Rhex	regulator of hemoglobinization and erythroid cell expansion	gene	DOID:1115	sarcoma		ISO	RGD:1606860	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8765089	Rhex	regulator of hemoglobinization and erythroid cell expansion	gene	DOID:5041	esophageal cancer		ISO	RGD:1606860	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8765089	Rhex	regulator of hemoglobinization and erythroid cell expansion	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765089	Rhex	regulator of hemoglobinization and erythroid cell expansion	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8765103	Golga3	golgin A3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8765103	Golga3	golgin A3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765103	Golga3	golgin A3	gene	DOID:10534	stomach cancer		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8765103	Golga3	golgin A3	gene	DOID:1115	sarcoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8765103	Golga3	golgin A3	gene	DOID:1324	lung cancer		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8765103	Golga3	golgin A3	gene	DOID:1909	melanoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8765103	Golga3	golgin A3	gene	DOID:3275	thymoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8765103	Golga3	golgin A3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8765103	Golga3	golgin A3	gene	DOID:4362	cervical cancer		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8765103	Golga3	golgin A3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8765103	Golga3	golgin A3	gene	DOID:5041	esophageal cancer		ISO	RGD:1313187	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8765103	Golga3	golgin A3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8765103	Golga3	golgin A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765103	Golga3	golgin A3	gene	DOID:6039	uveal melanoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8765103	Golga3	golgin A3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8765103	Golga3	golgin A3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8765103	Golga3	golgin A3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765103	Golga3	golgin A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8765103	Golga3	golgin A3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8765133	Shroom4	shroom family member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8765133	Shroom4	shroom family member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765133	Shroom4	shroom family member 4	gene	DOID:0060058	lymphoma		ISO	RGD:1606521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8765133	Shroom4	shroom family member 4	gene	DOID:0112126	Stocco Dos Santos type X-linked intellectual disability		ISO	RGD:1606521	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Stocco dos Santos type | ClinVar Annotator: match by term: Stocco dos Santos syndrome | ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type	PMID:16249884|PMID:25741868
8765133	Shroom4	shroom family member 4	gene	DOID:1059	intellectual disability		ISO	RGD:1606521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8765133	Shroom4	shroom family member 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1606521	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8765133	Shroom4	shroom family member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765133	Shroom4	shroom family member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765153	Spdef	SAM pointed domain containing ETS transcription factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765153	Spdef	SAM pointed domain containing ETS transcription factor	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1318473	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:ovary	PMID:18567002|REF_RGD_ID:2298935
8765153	Spdef	SAM pointed domain containing ETS transcription factor	gene	DOID:4362	cervical cancer		ISO	RGD:1318473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8765153	Spdef	SAM pointed domain containing ETS transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765153	Spdef	SAM pointed domain containing ETS transcription factor	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1318473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18567002
8765153	Spdef	SAM pointed domain containing ETS transcription factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8765186	Stxbp6	syntaxin binding protein 6	gene	DOID:12849	autistic disorder		ISO	RGD:1314544	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20071347
8765186	Stxbp6	syntaxin binding protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765195	Igsf11	immunoglobulin superfamily member 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765195	Igsf11	immunoglobulin superfamily member 11	gene	DOID:1115	sarcoma		ISO	RGD:1318715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8765195	Igsf11	immunoglobulin superfamily member 11	gene	DOID:3070	high grade glioma		ISO	RGD:1318715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8765195	Igsf11	immunoglobulin superfamily member 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765195	Igsf11	immunoglobulin superfamily member 11	gene	DOID:6039	uveal melanoma		ISO	RGD:1318715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8765195	Igsf11	immunoglobulin superfamily member 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765215	Tcp11	t-complex 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8765215	Tcp11	t-complex 11	gene	DOID:1115	sarcoma		ISO	RGD:1351114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8765215	Tcp11	t-complex 11	gene	DOID:1324	lung cancer		ISO	RGD:1351114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8765215	Tcp11	t-complex 11	gene	DOID:4362	cervical cancer		ISO	RGD:1351114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8765215	Tcp11	t-complex 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765215	Tcp11	t-complex 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8765215	Tcp11	t-complex 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8765235	Dbnl	drebrin like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765235	Dbnl	drebrin like	gene	DOID:10534	stomach cancer		ISO	RGD:1606301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8765235	Dbnl	drebrin like	gene	DOID:1115	sarcoma		ISO	RGD:1606301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8765235	Dbnl	drebrin like	gene	DOID:1324	lung cancer		ISO	RGD:1606301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8765235	Dbnl	drebrin like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8765235	Dbnl	drebrin like	gene	DOID:4362	cervical cancer		ISO	RGD:1606301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8765235	Dbnl	drebrin like	gene	DOID:5041	esophageal cancer		ISO	RGD:1606301	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8765235	Dbnl	drebrin like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765235	Dbnl	drebrin like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8765235	Dbnl	drebrin like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8765235	Dbnl	drebrin like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765235	Dbnl	drebrin like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8765260	Hspa14	heat shock protein family A (Hsp70) member 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:38549391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765260	Hspa14	heat shock protein family A (Hsp70) member 14	gene	DOID:10534	stomach cancer		ISO	RGD:38549391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8765260	Hspa14	heat shock protein family A (Hsp70) member 14	gene	DOID:1115	sarcoma		ISO	RGD:38549391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8765260	Hspa14	heat shock protein family A (Hsp70) member 14	gene	DOID:403	mouth disease		ISO	RGD:38549391	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17682004
8765260	Hspa14	heat shock protein family A (Hsp70) member 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:38549391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765260	Hspa14	heat shock protein family A (Hsp70) member 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:38549391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8765260	Hspa14	heat shock protein family A (Hsp70) member 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:38549391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8765260	Hspa14	heat shock protein family A (Hsp70) member 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:38549391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8765279	Ube2o	ubiquitin conjugating enzyme E2 O	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765279	Ube2o	ubiquitin conjugating enzyme E2 O	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8765279	Ube2o	ubiquitin conjugating enzyme E2 O	gene	DOID:1115	sarcoma		ISO	RGD:1606786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8765279	Ube2o	ubiquitin conjugating enzyme E2 O	gene	DOID:1909	melanoma		ISO	RGD:1606786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8765279	Ube2o	ubiquitin conjugating enzyme E2 O	gene	DOID:4362	cervical cancer		ISO	RGD:1606786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8765279	Ube2o	ubiquitin conjugating enzyme E2 O	gene	DOID:5041	esophageal cancer		ISO	RGD:1606786	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8765279	Ube2o	ubiquitin conjugating enzyme E2 O	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765279	Ube2o	ubiquitin conjugating enzyme E2 O	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765279	Ube2o	ubiquitin conjugating enzyme E2 O	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8765279	Ube2o	ubiquitin conjugating enzyme E2 O	gene	DOID:9256	colorectal cancer		ISO	RGD:1606786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8765304	Ctdnep1	CTD nuclear envelope phosphatase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765304	Ctdnep1	CTD nuclear envelope phosphatase 1	gene	DOID:0080706	medulloblastoma non-WNT/non-SHH		ISO	RGD:1320917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH	PMID:22832583|PMID:27993330|PMID:31574483|PMID:34852214
8765304	Ctdnep1	CTD nuclear envelope phosphatase 1	gene	DOID:0080707	medulloblastoma non-WNT/non-SHH group 3		ISO	RGD:1320917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 3	PMID:22820256|PMID:22832583|PMID:27993330|PMID:28726821|PMID:31574483|PMID:34852214
8765304	Ctdnep1	CTD nuclear envelope phosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765304	Ctdnep1	CTD nuclear envelope phosphatase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765304	Ctdnep1	CTD nuclear envelope phosphatase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8765317	Polr1b	RNA polymerase I subunit B	gene	DOID:0080792	Treacher Collins syndrome 4		ISO	RGD:1348858	D	RGD:7240710	20200722	OMIM			
8765317	Polr1b	RNA polymerase I subunit B	gene	DOID:0080792	Treacher Collins syndrome 4		ISO	RGD:1348858	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: POLR1B-related condition | ClinVar Annotator: match by term: TREACHER COLLINS SYNDROME 4 | ClinVar Annotator: match by term: Treacher Collins syndrome 4	PMID:25741868
8765317	Polr1b	RNA polymerase I subunit B	gene	DOID:10534	stomach cancer		ISO	RGD:1348858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8765317	Polr1b	RNA polymerase I subunit B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8765317	Polr1b	RNA polymerase I subunit B	gene	DOID:1909	melanoma		ISO	RGD:1348858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8765317	Polr1b	RNA polymerase I subunit B	gene	DOID:2394	ovarian cancer		ISO	RGD:1348858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8765317	Polr1b	RNA polymerase I subunit B	gene	DOID:4362	cervical cancer		ISO	RGD:1348858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8765317	Polr1b	RNA polymerase I subunit B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8765317	Polr1b	RNA polymerase I subunit B	gene	DOID:5041	esophageal cancer		ISO	RGD:1348858	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8765317	Polr1b	RNA polymerase I subunit B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765317	Polr1b	RNA polymerase I subunit B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8765343	Itga2	integrin subunit alpha 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8765343	Itga2	integrin subunit alpha 2	gene	DOID:0051061	stroke	no_association	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD			PMID:12871362|REF_RGD_ID:1582299
8765343	Itga2	integrin subunit alpha 2	gene	DOID:0051061	stroke	susceptibility	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD		DNA:SNP::807C>T(human)	PMID:25207168|REF_RGD_ID:13592606
8765343	Itga2	integrin subunit alpha 2	gene	DOID:0060573	von Willebrand's disease 1	no_association	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD		DNA:SNP: :807C>T (human)	PMID:14652648|REF_RGD_ID:11530070
8765343	Itga2	integrin subunit alpha 2	gene	DOID:0060573	von Willebrand's disease 1	severity	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD			PMID:15226188|REF_RGD_ID:10766468
8765343	Itga2	integrin subunit alpha 2	gene	DOID:0060574	von Willebrand's disease 2	severity	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD		DNA:haplotype:promoter:	PMID:16409463|REF_RGD_ID:10766469
8765343	Itga2	integrin subunit alpha 2	gene	DOID:0060903	thrombosis		ISO	RGD:1348738	D	RGD:9068941	20200609	RGD			PMID:14563646|REF_RGD_ID:1582298
8765343	Itga2	integrin subunit alpha 2	gene	DOID:0060903	thrombosis	susceptibility	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD		associated with Behcet Syndrome;DNA:snp:cds:c.807C>T (human)	PMID:12412731|REF_RGD_ID:1582300
8765343	Itga2	integrin subunit alpha 2	gene	DOID:0081267	graft-versus-host disease	treatment	ISO	RGD:1553829	D	RGD:9068941	20200609	RGD			PMID:11489992|REF_RGD_ID:8693305
8765343	Itga2	integrin subunit alpha 2	gene	DOID:0111045	platelet-type bleeding disorder 9		ISO	RGD:1348738	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Platelet-type bleeding disorder 9	PMID:19500323|PMID:22862885
8765343	Itga2	integrin subunit alpha 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1348738	D	RGD:9068941	20200609	RGD		DNA:snp:cds:c.807C>T (rs1126643) (human)	PMID:22948415|REF_RGD_ID:8686432
8765343	Itga2	integrin subunit alpha 2	gene	DOID:10534	stomach cancer		ISO	RGD:1348738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8765343	Itga2	integrin subunit alpha 2	gene	DOID:11758	iron deficiency anemia		ISO	RGD:1348738	D	RGD:9068941	20200609	RGD		DNA:SNP: :807C>T (human)	PMID:12225391|REF_RGD_ID:11530068
8765343	Itga2	integrin subunit alpha 2	gene	DOID:1324	lung cancer		ISO	RGD:1348738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8765343	Itga2	integrin subunit alpha 2	gene	DOID:13241	Behcet's disease	susceptibility	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD			PMID:12412731|REF_RGD_ID:1582300
8765343	Itga2	integrin subunit alpha 2	gene	DOID:13514	venous tributary occlusion of retina	no_association	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD		DNA:snp:cds:g.807C>T (human)	PMID:16157382|REF_RGD_ID:1582301
8765343	Itga2	integrin subunit alpha 2	gene	DOID:1588	thrombocytopenia		ISO	RGD:1348738	D	RGD:9068941	20200609	RGD		associated with Hantavirus Infections;DNA:SNP: :807C>T (rs1126643) (human)	PMID:22133274|REF_RGD_ID:11530072
8765343	Itga2	integrin subunit alpha 2	gene	DOID:1727	retinal vein occlusion		ISO	RGD:1348738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12928694
8765343	Itga2	integrin subunit alpha 2	gene	DOID:1727	retinal vein occlusion	susceptibility	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD		DNA:snp, haplotype:cds:g.807C>T (human)	PMID:12928694|REF_RGD_ID:8686430
8765343	Itga2	integrin subunit alpha 2	gene	DOID:2219	Glanzmann's thrombasthenia	severity	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD			PMID:14687991|REF_RGD_ID:1582297
8765343	Itga2	integrin subunit alpha 2	gene	DOID:2349	arteriosclerosis	susceptibility	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD			PMID:11978651|REF_RGD_ID:1582304
8765343	Itga2	integrin subunit alpha 2	gene	DOID:289	endometriosis		ISO	RGD:1348738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
8765343	Itga2	integrin subunit alpha 2	gene	DOID:3393	coronary artery disease	no_association	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD			PMID:15227729|REF_RGD_ID:1582294
8765343	Itga2	integrin subunit alpha 2	gene	DOID:3611	acute retinal necrosis syndrome		ISO	RGD:1553829	D	RGD:9068941	20200609	RGD		protein:increased expression:eye anterior segment, natural killer cell (mouse)	PMID:19387084|REF_RGD_ID:8693207
8765343	Itga2	integrin subunit alpha 2	gene	DOID:3891	placental insufficiency		ISO	RGD:621632	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:placenta (rat)	PMID:20621762|REF_RGD_ID:5147460
8765343	Itga2	integrin subunit alpha 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8765343	Itga2	integrin subunit alpha 2	gene	DOID:4362	cervical cancer		ISO	RGD:1348738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8765343	Itga2	integrin subunit alpha 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348738	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8765343	Itga2	integrin subunit alpha 2	gene	DOID:552	pneumonia	treatment	ISO	RGD:1553829	D	RGD:9068941	20200609	RGD			PMID:11207307|REF_RGD_ID:8693217
8765343	Itga2	integrin subunit alpha 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8765343	Itga2	integrin subunit alpha 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765343	Itga2	integrin subunit alpha 2	gene	DOID:5844	myocardial infarction		ISO	RGD:1348738	D	RGD:9068941	20200609	RGD			PMID:10194421|REF_RGD_ID:1581029
8765343	Itga2	integrin subunit alpha 2	gene	DOID:5844	myocardial infarction	no_association	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD			PMID:15227729|REF_RGD_ID:1582294
8765343	Itga2	integrin subunit alpha 2	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD			PMID:16697311|REF_RGD_ID:1582296
8765343	Itga2	integrin subunit alpha 2	gene	DOID:630	genetic disease		ISO	RGD:1348738	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8765343	Itga2	integrin subunit alpha 2	gene	DOID:8805	intermediate coronary syndrome	susceptibility	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD			PMID:15104219|REF_RGD_ID:1582303
8765343	Itga2	integrin subunit alpha 2	gene	DOID:8947	diabetic retinopathy	no_association	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:snp:cds:c.807T>C (human)	PMID:21632096|REF_RGD_ID:8686431
8765343	Itga2	integrin subunit alpha 2	gene	DOID:8947	diabetic retinopathy	no_association	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS8-1059T>C (human)	PMID:18806884|REF_RGD_ID:2313281
8765343	Itga2	integrin subunit alpha 2	gene	DOID:8947	diabetic retinopathy	severity	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus; DNA:transition:cds:807C>T (human)	PMID:12540964|REF_RGD_ID:2307419
8765343	Itga2	integrin subunit alpha 2	gene	DOID:8947	diabetic retinopathy	susceptibility	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS7+3160A>G (human)	PMID:23776381|REF_RGD_ID:7777103
8765343	Itga2	integrin subunit alpha 2	gene	DOID:9000064	Cardiac Arrhythmias	no_association	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD			PMID:10822074|REF_RGD_ID:1582305
8765343	Itga2	integrin subunit alpha 2	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:1553829	D	RGD:9068941	20200609	RGD			PMID:16534417|REF_RGD_ID:11530069
8765343	Itga2	integrin subunit alpha 2	gene	DOID:9000528	Coronary Disease	no_association	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD			PMID:9684730|REF_RGD_ID:1582306
8765343	Itga2	integrin subunit alpha 2	gene	DOID:9002165	Diabetic Nephropathies	severity	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:mesangial cell (human)	PMID:8989742|REF_RGD_ID:2307420
8765343	Itga2	integrin subunit alpha 2	gene	DOID:9002189	High Myopia		ISO	RGD:1348738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:25741868
8765343	Itga2	integrin subunit alpha 2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1348738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18234883
8765343	Itga2	integrin subunit alpha 2	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1348738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral hemorrhage	PMID:25741868
8765343	Itga2	integrin subunit alpha 2	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1553829	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:natural killer cell (mouse)	PMID:19321657|REF_RGD_ID:2307421
8765343	Itga2	integrin subunit alpha 2	gene	DOID:9003817	Sudden Hearing Loss	susceptibility	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD		DNA:SNP: :807C>T (human)	PMID:16525573|REF_RGD_ID:1582302
8765343	Itga2	integrin subunit alpha 2	gene	DOID:9003871	Venous Thrombosis	no_association	ISO	RGD:1348738	D	RGD:9068941	20200609	RGD			PMID:16380674|REF_RGD_ID:1582295
8765343	Itga2	integrin subunit alpha 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8765343	Itga2	integrin subunit alpha 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765343	Itga2	integrin subunit alpha 2	gene	DOID:9007402	Gliosis		ISO	RGD:1348738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12851778
8765343	Itga2	integrin subunit alpha 2	gene	DOID:9007456	Female Infertility		ISO	RGD:1553829	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:natural killer cell (mouse)	PMID:19146775|REF_RGD_ID:2307422
8765343	Itga2	integrin subunit alpha 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8765343	Itga2	integrin subunit alpha 2	gene	DOID:9009371	Fetomaternal alloimmune thrombocytopenia 3		ISO	RGD:1348738	D	RGD:7240710	20250820	OMIM			
8765343	Itga2	integrin subunit alpha 2	gene	DOID:9009371	Fetomaternal alloimmune thrombocytopenia 3		ISO	RGD:1348738	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Fetomaternal alloimmune thrombocytopenia 3 | ClinVar Annotator: match by term: ITGA2-related condition	PMID:25741868|PMID:28492532
8765343	Itga2	integrin subunit alpha 2	gene	DOID:9351	diabetes mellitus		ISO	RGD:1348738	D	RGD:9068941	20200609	RGD		protein:increased expression:monocyte (human)	PMID:17466965|REF_RGD_ID:2307424
8765343	Itga2	integrin subunit alpha 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1348738	D	RGD:9068941	20200609	RGD		protein:increased expression:platelet (human)	PMID:15025679|REF_RGD_ID:2307425
8765343	Itga2	integrin subunit alpha 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1553829	D	RGD:9068941	20200609	RGD		protein:altered expression:thymocyte (mouse)	PMID:18567821|REF_RGD_ID:2307423
8765380	Dmrta2	DMRT like family A2	gene	DOID:4362	cervical cancer		ISO	RGD:1343593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8765380	Dmrta2	DMRT like family A2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765388	Tesmin	testis expressed metallothionein like protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765388	Tesmin	testis expressed metallothionein like protein	gene	DOID:10534	stomach cancer		ISO	RGD:1320315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8765388	Tesmin	testis expressed metallothionein like protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8765388	Tesmin	testis expressed metallothionein like protein	gene	DOID:1909	melanoma		ISO	RGD:1320315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8765388	Tesmin	testis expressed metallothionein like protein	gene	DOID:4362	cervical cancer		ISO	RGD:1320315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8765388	Tesmin	testis expressed metallothionein like protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320315	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8765388	Tesmin	testis expressed metallothionein like protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8765388	Tesmin	testis expressed metallothionein like protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1320315	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8765388	Tesmin	testis expressed metallothionein like protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765388	Tesmin	testis expressed metallothionein like protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8765388	Tesmin	testis expressed metallothionein like protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765388	Tesmin	testis expressed metallothionein like protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8765419	Ptar1	protein prenyltransferase alpha subunit repeat containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765419	Ptar1	protein prenyltransferase alpha subunit repeat containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1313649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8765419	Ptar1	protein prenyltransferase alpha subunit repeat containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1313649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8765419	Ptar1	protein prenyltransferase alpha subunit repeat containing 1	gene	DOID:1909	melanoma		ISO	RGD:1313649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8765419	Ptar1	protein prenyltransferase alpha subunit repeat containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8765419	Ptar1	protein prenyltransferase alpha subunit repeat containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8765419	Ptar1	protein prenyltransferase alpha subunit repeat containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765419	Ptar1	protein prenyltransferase alpha subunit repeat containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8765433	Cebpz	CCAAT enhancer binding protein zeta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8765433	Cebpz	CCAAT enhancer binding protein zeta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765433	Cebpz	CCAAT enhancer binding protein zeta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8765433	Cebpz	CCAAT enhancer binding protein zeta	gene	DOID:1324	lung cancer		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8765433	Cebpz	CCAAT enhancer binding protein zeta	gene	DOID:2394	ovarian cancer		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8765433	Cebpz	CCAAT enhancer binding protein zeta	gene	DOID:3070	high grade glioma		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8765433	Cebpz	CCAAT enhancer binding protein zeta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312755	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8765433	Cebpz	CCAAT enhancer binding protein zeta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765433	Cebpz	CCAAT enhancer binding protein zeta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765460	Rnf2	ring finger protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765460	Rnf2	ring finger protein 2	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:1313548	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:19585519|REF_RGD_ID:9491843
8765460	Rnf2	ring finger protein 2	gene	DOID:0070416	Luo-Schoch-Yamamoto syndrome		ISO	RGD:1313548	D	RGD:7240710	20211027	OMIM			
8765460	Rnf2	ring finger protein 2	gene	DOID:0070416	Luo-Schoch-Yamamoto syndrome		ISO	RGD:1313548	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LUO-SCHOCH-YAMAMOTO SYNDROME | ClinVar Annotator: match by term: Luo-Schoch-Yamamoto syndrome	PMID:25741868
8765460	Rnf2	ring finger protein 2	gene	DOID:0080016	spina bifida		ISO	RGD:1305491	D	RGD:9068941	20200609	RGD			PMID:20515739|REF_RGD_ID:9491842
8765460	Rnf2	ring finger protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8765460	Rnf2	ring finger protein 2	gene	DOID:3275	thymoma		ISO	RGD:1313548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8765460	Rnf2	ring finger protein 2	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1313548	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:19585519|REF_RGD_ID:9491843
8765460	Rnf2	ring finger protein 2	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1313549	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:19585519|REF_RGD_ID:9491843
8765460	Rnf2	ring finger protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765460	Rnf2	ring finger protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8765460	Rnf2	ring finger protein 2	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:1305491	D	RGD:9068941	20200609	RGD			PMID:20740046|REF_RGD_ID:9491844
8765460	Rnf2	ring finger protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313548	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
8765460	Rnf2	ring finger protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8765460	Rnf2	ring finger protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8765495	Hcfc1r1	host cell factor C1 regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765495	Hcfc1r1	host cell factor C1 regulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8765495	Hcfc1r1	host cell factor C1 regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8765495	Hcfc1r1	host cell factor C1 regulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1351730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8765495	Hcfc1r1	host cell factor C1 regulator 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8765495	Hcfc1r1	host cell factor C1 regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765495	Hcfc1r1	host cell factor C1 regulator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8765495	Hcfc1r1	host cell factor C1 regulator 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1351730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8765502	Enoph1	enolase-phosphatase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8765502	Enoph1	enolase-phosphatase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765502	Enoph1	enolase-phosphatase 1	gene	DOID:10316	pneumoconiosis		ISO	RGD:1603616	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506645
8765502	Enoph1	enolase-phosphatase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8765502	Enoph1	enolase-phosphatase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8765502	Enoph1	enolase-phosphatase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603616	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8765502	Enoph1	enolase-phosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765517	Etv5	ETS variant transcription factor 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765517	Etv5	ETS variant transcription factor 5	gene	DOID:1909	melanoma		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8765517	Etv5	ETS variant transcription factor 5	gene	DOID:4362	cervical cancer		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8765517	Etv5	ETS variant transcription factor 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8765517	Etv5	ETS variant transcription factor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765517	Etv5	ETS variant transcription factor 5	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1320007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27783944
8765517	Etv5	ETS variant transcription factor 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8765517	Etv5	ETS variant transcription factor 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765517	Etv5	ETS variant transcription factor 5	gene	DOID:9008192	Neoplastic Processes		ISO	RGD:1320007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27783944
8765517	Etv5	ETS variant transcription factor 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8765517	Etv5	ETS variant transcription factor 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8765517	Etv5	ETS variant transcription factor 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8765535	Kif15	kinesin family member 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8765535	Kif15	kinesin family member 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765535	Kif15	kinesin family member 15	gene	DOID:0080600	COVID-19		ISO	RGD:1351410	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8765535	Kif15	kinesin family member 15	gene	DOID:10534	stomach cancer		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8765535	Kif15	kinesin family member 15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8765535	Kif15	kinesin family member 15	gene	DOID:1324	lung cancer		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8765535	Kif15	kinesin family member 15	gene	DOID:1909	melanoma		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8765535	Kif15	kinesin family member 15	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1351410	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
8765535	Kif15	kinesin family member 15	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1351410	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis	PMID:35417304
8765535	Kif15	kinesin family member 15	gene	DOID:4362	cervical cancer		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8765535	Kif15	kinesin family member 15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8765535	Kif15	kinesin family member 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1351410	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8765535	Kif15	kinesin family member 15	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8765535	Kif15	kinesin family member 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765535	Kif15	kinesin family member 15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351410	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8765535	Kif15	kinesin family member 15	gene	DOID:9000152	Braddock-Carey Syndrome 2		ISO	RGD:1351410	D	RGD:7240710	20220810	OMIM			
8765535	Kif15	kinesin family member 15	gene	DOID:9000152	Braddock-Carey Syndrome 2		ISO	RGD:1351410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Braddock-carey syndrome 2	PMID:25741868
8765535	Kif15	kinesin family member 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765535	Kif15	kinesin family member 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8765535	Kif15	kinesin family member 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8765574	Adat2	adenosine deaminase tRNA specific 2	gene	DOID:1324	lung cancer		ISO	RGD:1320091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8765574	Adat2	adenosine deaminase tRNA specific 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1320091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8765574	Adat2	adenosine deaminase tRNA specific 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8765574	Adat2	adenosine deaminase tRNA specific 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765584	Klhl17	kelch like family member 17	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8765584	Klhl17	kelch like family member 17	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1348319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8765584	Klhl17	kelch like family member 17	gene	DOID:0060313	tracheomalacia		ISO	RGD:1348319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tracheomalacia	PMID:32641753
8765584	Klhl17	kelch like family member 17	gene	DOID:0080171	esophageal atresia/tracheoesophageal fistula		ISO	RGD:1348319	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula	PMID:32641753
8765584	Klhl17	kelch like family member 17	gene	DOID:10485	esophageal atresia		ISO	RGD:1348319	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	PMID:32641753
8765584	Klhl17	kelch like family member 17	gene	DOID:10534	stomach cancer		ISO	RGD:1348319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8765584	Klhl17	kelch like family member 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8765584	Klhl17	kelch like family member 17	gene	DOID:1115	sarcoma		ISO	RGD:1348319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8765584	Klhl17	kelch like family member 17	gene	DOID:1324	lung cancer		ISO	RGD:1348319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8765584	Klhl17	kelch like family member 17	gene	DOID:3275	thymoma		ISO	RGD:1348319	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8765584	Klhl17	kelch like family member 17	gene	DOID:4362	cervical cancer		ISO	RGD:1348319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8765584	Klhl17	kelch like family member 17	gene	DOID:4667	kyphosis		ISO	RGD:1348319	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:32641753
8765584	Klhl17	kelch like family member 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1348319	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8765584	Klhl17	kelch like family member 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765584	Klhl17	kelch like family member 17	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8765584	Klhl17	kelch like family member 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1315023	D	RGD:9068941	20220825	MouseDO			
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:0081212	autosomal recessive intellectual developmental disorder 48		ISO	RGD:1315022	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	PMID:25741868
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:0081220	autosomal recessive intellectual developmental disorder 58		ISO	RGD:1315022	D	RGD:7240710	20190315	OMIM			
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:0081220	autosomal recessive intellectual developmental disorder 58		ISO	RGD:1315022	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ELP2-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58	PMID:25741868|PMID:28492532
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:1059	intellectual disability		ISO	RGD:1315022	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound	PMID:25741868
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:1059	intellectual disability		ISO	RGD:1315022	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Mild intellectual disability	PMID:21937992|PMID:25356970|PMID:25741868|PMID:25847581|PMID:28492532|PMID:28726809|PMID:32573669|PMID:33393008|PMID:33510603|PMID:33976153|PMID:34653680
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:12849	autistic disorder		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:1826	epilepsy		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:2841	asthma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:3070	high grade glioma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315022	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1315022	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8765624	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:9834	hyperopia		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25847581|PMID:33976153
8765662	Xpo6	exportin 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8765662	Xpo6	exportin 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765662	Xpo6	exportin 6	gene	DOID:10534	stomach cancer		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8765662	Xpo6	exportin 6	gene	DOID:1115	sarcoma		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8765662	Xpo6	exportin 6	gene	DOID:1324	lung cancer		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8765662	Xpo6	exportin 6	gene	DOID:1909	melanoma		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8765662	Xpo6	exportin 6	gene	DOID:303	substance-related disorder		ISO	RGD:1322976	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8765662	Xpo6	exportin 6	gene	DOID:3070	high grade glioma		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8765662	Xpo6	exportin 6	gene	DOID:3275	thymoma		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8765662	Xpo6	exportin 6	gene	DOID:4362	cervical cancer		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8765662	Xpo6	exportin 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8765662	Xpo6	exportin 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1322976	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8765662	Xpo6	exportin 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765662	Xpo6	exportin 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765662	Xpo6	exportin 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8765662	Xpo6	exportin 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8765662	Xpo6	exportin 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:735711	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:0080074	neural tube defect		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20641098
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27565560
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:10783	methemoglobinemia		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12030840
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:13580	cholestasis		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27565560
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:1380	endometrial cancer		ISO	RGD:735711	D	RGD:9068941	20200609	RGD		DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.00000002)	PMID:18497059|REF_RGD_ID:2301045
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:1596	depressive disorder		ISO	RGD:2459	D	RGD:9068941	20200609	RGD			PMID:20595028|REF_RGD_ID:4892242
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:1612	breast cancer		ISO	RGD:735711	D	RGD:9068941	20200609	RGD		DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.0000005)	PMID:18497059|REF_RGD_ID:2301045
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22072123
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:2529	splenic disease		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20961953
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:10438	D	RGD:9068941	20200609	RGD			PMID:18495746|PMID:23981375|REF_RGD_ID:7257727|REF_RGD_ID:7257735
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20797314
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:735711	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :-3860G>A (human)	PMID:20080081|REF_RGD_ID:4293707
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:3132	porphyria cutanea tarda		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11153915
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:3132	porphyria cutanea tarda		ISO	RGD:735711	D	RGD:9068941	20200609	RGD			PMID:20957336|REF_RGD_ID:11576316
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:409	liver disease		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12969438
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:5041	esophageal cancer		ISO	RGD:735711	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:5082	liver cirrhosis		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27565560
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:2459	D	RGD:9068941	20231109	RGD			PMID:34958945|REF_RGD_ID:401900155
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9000310	Lung Injury		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25703676
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9001312	Tardive Dyskinesia	treatment	ISO	RGD:735711	D	RGD:9068941	20200609	RGD		associated with schizophrenia	PMID:10889552|REF_RGD_ID:1358545
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11376689|PMID:21147764
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9002720	Splenomegaly		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10445756
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9004462	Atrophy		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20961953
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9004484	Sepsis		ISO	RGD:2459	D	RGD:9068941	20200609	RGD			PMID:15665729|PMID:18360687|REF_RGD_ID:2303376|REF_RGD_ID:5147745
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9004898	Jaundice		ISO	RGD:2459	D	RGD:9068941	20200609	RGD			PMID:8502229|REF_RGD_ID:11576308
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9004898	Jaundice		ISO	RGD:2459	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:18442205|REF_RGD_ID:2303375
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22072123
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10445756
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9006257	Growth Disorders		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20961953
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9006575	Vitamin E Deficiency	treatment	ISO	RGD:2459	D	RGD:9068941	20231109	RGD		associated with nitrate tolerance	PMID:16520233|REF_RGD_ID:401900296
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10445756
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28762043
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9007639	Metabolic Side Effects of Drugs and Substances		ISO	RGD:2459	D	RGD:9068941	20231116	RGD		Associated with incense smoke exposure;mRNA:increased expression:heart (rat)	PMID:25687613|REF_RGD_ID:401900684
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9007639	Metabolic Side Effects of Drugs and Substances		ISO	RGD:2459	D	RGD:9068941	20231116	RGD		associated with nitrate tolerance; protein:decreased expression:thoracic aorta (rat)	PMID:12688525|REF_RGD_ID:401900656
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9007639	Metabolic Side Effects of Drugs and Substances	treatment	ISO	RGD:2459	D	RGD:9068941	20231109	RGD		associated with nitrate tolerance	PMID:16520233|REF_RGD_ID:401900296
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9007703	Phenacetin O-Deethylase, Deficiency of		ISO	RGD:12053109	D	RGD:9068941	20250925	OMIA		Metabolizer of a cognitive enhancer	PMID:14744947|PMID:15564884|PMID:15742977|PMID:16473917|PMID:16882764|PMID:37144920|PMID:37317989|PMID:37582787|PMID:40765748|PMID:40965331
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9007755	Intestinal Reperfusion Injury	treatment	ISO	RGD:2459	D	RGD:9068941	20230824	RGD			PMID:22079846|REF_RGD_ID:401794136
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21081473
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9008691	Liver Injury		ISO	RGD:2459	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:26590097|REF_RGD_ID:11576319
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22244987
8765697	LOC102010322	cytochrome P450 1A2	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22674224
8765715	CUNH19orf67	chromosome unknown C19orf67 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:2311616	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8765715	CUNH19orf67	chromosome unknown C19orf67 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2311616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765759	Sephs2	selenophosphate synthetase 2	gene	DOID:0050860	colorectal adenoma		ISO	RGD:1318823	D	RGD:9068941	20220407	RGD		mRNA:decreased expression:colorectum (human)	PMID:30469315|REF_RGD_ID:151665806
8765759	Sephs2	selenophosphate synthetase 2	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1318823	D	RGD:9068941	20220407	RGD		mRNA:decreased expression:colorectum (human)	PMID:30469315|REF_RGD_ID:151665806
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1351337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:10534	stomach cancer		ISO	RGD:1351337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:1059	intellectual disability		ISO	RGD:1351337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:10907	microcephaly		ISO	RGD:1351337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1351337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:12849	autistic disorder		ISO	RGD:1351337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: autism	PMID:25741868
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:1826	epilepsy		ISO	RGD:1351337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:3275	thymoma		ISO	RGD:1351337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:4362	cervical cancer		ISO	RGD:1351337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1351337	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:630	genetic disease		ISO	RGD:1351337	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:32031333
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:9003566	Mesothelioma		ISO	RGD:1351337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1351337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:9007606	Chilton-Okur-Chung neurodevelopmental syndrome		ISO	RGD:1351337	D	RGD:7240710	20220615	OMIM			
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:9007606	Chilton-Okur-Chung neurodevelopmental syndrome		ISO	RGD:1351337	D	RGD:8554872	20240813	ClinVar		ClinVar Annotator: match by term: CDC42BPB-related disorder | ClinVar Annotator: match by term: CDC42BPB-related neurodevelopmental syndrome | ClinVar Annotator: match by term: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: Chilton-Okur-Chung neurodevelopmental syndrome	PMID:25741868|PMID:28492532|PMID:32031333|PMID:38177409
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8765764	Cdc42bpb	CDC42 binding protein kinase beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8765802	Slbp	stem-loop histone mRNA binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765802	Slbp	stem-loop histone mRNA binding protein	gene	DOID:12270	coloboma		ISO	RGD:1350910	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30695021
8765802	Slbp	stem-loop histone mRNA binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1350910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8765802	Slbp	stem-loop histone mRNA binding protein	gene	DOID:1909	melanoma		ISO	RGD:1350910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8765802	Slbp	stem-loop histone mRNA binding protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1350910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8765802	Slbp	stem-loop histone mRNA binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1350910	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8765802	Slbp	stem-loop histone mRNA binding protein	gene	DOID:5723	optic atrophy		ISO	RGD:1350910	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30695021
8765802	Slbp	stem-loop histone mRNA binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765802	Slbp	stem-loop histone mRNA binding protein	gene	DOID:9006597	Retinal Dysplasia		ISO	RGD:1350910	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30695021
8765802	Slbp	stem-loop histone mRNA binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765802	Slbp	stem-loop histone mRNA binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8765822	Snap47	synaptosome associated protein 47	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8765822	Snap47	synaptosome associated protein 47	gene	DOID:1324	lung cancer		ISO	RGD:1601832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8765822	Snap47	synaptosome associated protein 47	gene	DOID:1909	melanoma		ISO	RGD:1601832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8765822	Snap47	synaptosome associated protein 47	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1601832	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:34664776
8765822	Snap47	synaptosome associated protein 47	gene	DOID:4362	cervical cancer		ISO	RGD:1601832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8765822	Snap47	synaptosome associated protein 47	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765822	Snap47	synaptosome associated protein 47	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8765822	Snap47	synaptosome associated protein 47	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765822	Snap47	synaptosome associated protein 47	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8765834	Gca	grancalcin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765834	Gca	grancalcin	gene	DOID:0060058	lymphoma		ISO	RGD:1315291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8765834	Gca	grancalcin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8765834	Gca	grancalcin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8765834	Gca	grancalcin	gene	DOID:4362	cervical cancer		ISO	RGD:1315291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8765834	Gca	grancalcin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765834	Gca	grancalcin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8765834	Gca	grancalcin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765834	Gca	grancalcin	gene	DOID:9256	colorectal cancer		ISO	RGD:1315291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8765862	Znf251	zinc finger protein 251	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8765862	Znf251	zinc finger protein 251	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765862	Znf251	zinc finger protein 251	gene	DOID:1324	lung cancer		ISO	RGD:1322438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8765862	Znf251	zinc finger protein 251	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765862	Znf251	zinc finger protein 251	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765869	Ap1g2	adaptor related protein complex 1 subunit gamma 2	gene	DOID:3275	thymoma		ISO	RGD:1313902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8765869	Ap1g2	adaptor related protein complex 1 subunit gamma 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8765904	Sik2	salt inducible kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765904	Sik2	salt inducible kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8765904	Sik2	salt inducible kinase 2	gene	DOID:9000918	Disease Progression		ISO	RGD:1346987	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:34491613
8765904	Sik2	salt inducible kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:730900	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:0070309	absence epilepsy		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:0080472	developmental and epileptic encephalopathy 91		ISO	RGD:730900	D	RGD:7240710	20190315	OMIM			
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:0080472	developmental and epileptic encephalopathy 91		ISO	RGD:730900	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 91 | ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood, 1	PMID:17576681|PMID:25262651|PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30904718|PMID:32238909|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402|PMID:9536098
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:10534	stomach cancer		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder cancer	
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:1115	sarcoma		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:11836	clubfoot		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:12849	autistic disorder		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:12858	Huntington's disease		ISO	RGD:11134	D	RGD:9068941	20200609	RGD			PMID:19733666|REF_RGD_ID:6483320
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:11134	D	RGD:9068941	20240425	MouseDO			
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:730900	D	RGD:9068941	20200609	RGD			PMID:26436650|REF_RGD_ID:13515117
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:1826	epilepsy		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:1827	generalized epilepsy		ISO	RGD:730900	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:2519	testicular disease		ISO	RGD:730900	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17785681
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:2519	testicular disease	treatment	ISO	RGD:11134	D	RGD:9068941	20200609	RGD		associated with Cadmium Poisoning	PMID:17785681|REF_RGD_ID:13515119
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:3070	high grade glioma		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:3275	thymoma		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:730900	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27158780
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:4001	ovarian carcinoma		ISO	RGD:730900	D	RGD:9068941	20221215	CTD		CTD Direct Evidence: marker/mechanism	PMID:30365097
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:730900	D	RGD:9068941	20220714	RGD		mRNA:altered expression:liver (human)	PMID:31687280|REF_RGD_ID:152998978
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:4989	pancreatitis		ISO	RGD:730900	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22952646
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:5419	schizophrenia		ISO	RGD:730900	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:brain	PMID:15820226|REF_RGD_ID:13515121
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:557	kidney disease		ISO	RGD:3382	D	RGD:9068941	20200609	RGD			PMID:27009276|REF_RGD_ID:11537650
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:630	genetic disease		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:674	cleft palate		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized tonic-clonic seizures	PMID:25741868
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:893	Wilson disease		ISO	RGD:730900	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23519153
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9000998	Brain Injuries		ISO	RGD:3382	D	RGD:9068941	20200609	RGD		protein: :hippocampus	PMID:19751097|REF_RGD_ID:6483311
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9000998	Brain Injuries		ISO	RGD:730900	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14499481
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9001596	Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development		ISO	RGD:730900	D	RGD:7240710	20190315	OMIM			
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9001596	Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | ClinVar Annotator: match by term: PPP3CA-related condition	PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:730900	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9003936	Cardiomegaly		ISO	RGD:11134	D	RGD:9068941	20240104	RGD			PMID:12515860|PMID:21273244|REF_RGD_ID:401940178|REF_RGD_ID:734902
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3382	D	RGD:9068941	20200609	RGD			PMID:14762344|REF_RGD_ID:1580702
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:11134	D	RGD:9068941	20200609	RGD			PMID:15336966|PMID:9568714|REF_RGD_ID:1579951|REF_RGD_ID:1579956
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:730900	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18344631
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:11134	D	RGD:9068941	20200609	RGD			PMID:15537502|REF_RGD_ID:1580701
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:11134	D	RGD:9068941	20200609	RGD			PMID:9568714|REF_RGD_ID:1579956
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:3382	D	RGD:9068941	20200609	RGD			PMID:16799071|REF_RGD_ID:1580700
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9008582	Developmental Disease		ISO	RGD:730900	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8765934	Ppp3ca	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9256	colorectal cancer		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8765959	Mycbp	MYC binding protein	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1315945	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:0060180	colitis		ISO	RGD:70547	D	RGD:9068941	20200609	RGD			PMID:21330446|REF_RGD_ID:5490987
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:0060180	colitis		ISO	RGD:70547	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:intestine, myenteric nerve plexus	PMID:17586086|REF_RGD_ID:5131259
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:10534	stomach cancer		ISO	RGD:733138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:10763	hypertension		ISO	RGD:733138	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10742107
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:1324	lung cancer		ISO	RGD:733138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:1574	alcohol use disorder	sexual_dimorphism	ISO	RGD:733139	D	RGD:9068941	20250802	RGD		protein:increased expression:medial prefrontal cortex	PMID:35645747|REF_RGD_ID:617302495
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:1596	depressive disorder		ISO	RGD:70547	D	RGD:9068941	20200609	RGD			PMID:20860876|REF_RGD_ID:5147490
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:2030	anxiety disorder		ISO	RGD:733138	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10742108
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:2841	asthma		ISO	RGD:733138	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple (human)	PMID:18408560|REF_RGD_ID:5130938
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:326	ischemia		ISO	RGD:70547	D	RGD:9068941	20200609	RGD			PMID:19429103|REF_RGD_ID:5130953
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:3275	thymoma		ISO	RGD:733138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:3877	functional colonic disease		ISO	RGD:70547	D	RGD:9068941	20200609	RGD			PMID:20096320|REF_RGD_ID:5130948
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:4362	cervical cancer		ISO	RGD:733138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:4483	rhinitis		ISO	RGD:733138	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:nasal cavity epithelium	PMID:17597629|REF_RGD_ID:5130940
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:552	pneumonia		ISO	RGD:733139	D	RGD:9068941	20200609	RGD			PMID:16855006|REF_RGD_ID:5130933
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:767	muscular atrophy		ISO	RGD:70547	D	RGD:9068941	20200609	RGD			PMID:21235761|REF_RGD_ID:5130936
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:850	lung disease		ISO	RGD:733138	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16855006
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:9001109	Anorexia		ISO	RGD:70547	D	RGD:9068941	20200609	RGD			PMID:17050037|REF_RGD_ID:5131264
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:9001109	Anorexia		ISO	RGD:733138	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17627984
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:733139	D	RGD:9068941	20200609	RGD			PMID:21774994|REF_RGD_ID:5147472
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:70547	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:left ventricle (rat)	PMID:11087261|REF_RGD_ID:1642796
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:9005372	Inflammation		ISO	RGD:733138	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16855006
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:733138	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17437087
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:9006024	Hypotension		ISO	RGD:70547	D	RGD:9068941	20200609	RGD			PMID:11036160|REF_RGD_ID:1581302
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:9007877	Fetal Hypoxia		ISO	RGD:70547	D	RGD:9068941	20200609	RGD		protein:decreased expression:paraventricular nucleus of hypothalamus (rat)	PMID:19409200|REF_RGD_ID:5491006
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8765976	Crhr2	corticotropin releasing hormone receptor 2	gene	DOID:9778	irritable bowel syndrome		ISO	RGD:70547	D	RGD:9068941	20200609	RGD		associated with Anxiety Disorders; protein:decreased expression:distal colon (rat)	PMID:20096320|REF_RGD_ID:5130948
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:0050848	obstructive sleep apnea	severity	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		mRNA:increased expression:faucial pillar, muscle (human)	PMID:20847078|REF_RGD_ID:4891917
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:0060319	cardiac arrest		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus (rat)	PMID:19756023|REF_RGD_ID:4889980
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:27639593|REF_RGD_ID:14995335
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	disease_progression	ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:27639593|REF_RGD_ID:14995335
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:27639593|REF_RGD_ID:14995335
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:27639593|REF_RGD_ID:14995335
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1604061	D	RGD:9068941	20200618	RGD		protein:increased expression:serum (human)	PMID:32427582|REF_RGD_ID:30309200
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:0080821	exercise-induced bronchoconstriction		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased secretion:lung, secretion (human)	PMID:19996575|REF_RGD_ID:4892021
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:10247	pleurisy		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased secretion:lung (mouse)	PMID:18672096|REF_RGD_ID:4890016
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1604061	D	RGD:9068941	20220421	RGD		mRNA:altered expression:stomach, tumor (human)	PMID:29069277|REF_RGD_ID:151893464
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:10591	pre-eclampsia		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (rat)	PMID:19617880|REF_RGD_ID:2317272
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:10603	glucose intolerance		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:16306328|REF_RGD_ID:2307103
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebrum, blood vessels (human)	PMID:18440671|REF_RGD_ID:4890025
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:10763	hypertension		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum	PMID:15668187|REF_RGD_ID:2307105
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:11204	allergic conjunctivitis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:conjunctiva	PMID:12682842|REF_RGD_ID:2307196
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:11446	sciatic neuropathy		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:sciatic nerve (rat)	PMID:19152028|REF_RGD_ID:4890004
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:12140	Chagas disease		ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:20452453|REF_RGD_ID:4889906
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1604061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12126966
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver:	PMID:15770052|REF_RGD_ID:14995336
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:12351	alcoholic hepatitis		ISO	RGD:1604061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12586603
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:31258651|REF_RGD_ID:14995304
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:12375	bronchopneumonia		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:20350425|REF_RGD_ID:4892019
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:12574	posterior uveitis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:aqueous humor, vitreous body (rat)	PMID:19232006|REF_RGD_ID:4889998
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:altered expression:lung, T cell (mouse)	PMID:19124761|REF_RGD_ID:4891880
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:13141	uveitis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:conjunctiva, ciliary body	PMID:19104678|REF_RGD_ID:2306302
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased secretion:lung, secretion (mouse)	PMID:18717637|REF_RGD_ID:4891914
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung:bronchoalveolar lavage cell (human)	PMID:10384061|REF_RGD_ID:4891436
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:13976	peptic esophagitis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		associated with Asthma;mRNA:increased expression:esophagus	PMID:18222984|REF_RGD_ID:2307110
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1604061	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:1793	pancreatic cancer		ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:19155524|REF_RGD_ID:2317567
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:1883	hepatitis C	susceptibility	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		associated with Intravenous Substance Abuse;DNA:haplotype: :rs2107538A,rs2280788G,rs2280789C (human)	PMID:27304910|REF_RGD_ID:14401735
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:1936	atherosclerosis	ameliorates	ISO	RGD:69127	D	RGD:9068941	20230629	RGD			PMID:19122657|REF_RGD_ID:329901820
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2043	hepatitis B	disease_progression	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :	PMID:19017985|REF_RGD_ID:14995327
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2043	hepatitis B	disease_progression	ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:30536991|REF_RGD_ID:14401739
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2043	hepatitis B	susceptibility	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:promoter:-403G>A,-28C>G (human)	PMID:22576913|PMID:23336202|REF_RGD_ID:14995330|REF_RGD_ID:14995331
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:1604061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21227906
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2349	arteriosclerosis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16259780|REF_RGD_ID:2307165
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2349	arteriosclerosis		ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:14656931|REF_RGD_ID:4890030
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2349	arteriosclerosis		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (mouse)	PMID:19752857|REF_RGD_ID:4891452
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2377	multiple sclerosis		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain, frontal cortex (human)	PMID:11091283|REF_RGD_ID:4890028
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2518	orchitis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:11897701|REF_RGD_ID:704384
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:14611812|REF_RGD_ID:2307195
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (rat)	PMID:19840961|REF_RGD_ID:4889978
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2841	asthma		ISO	RGD:1604061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8534483
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2841	asthma		ISO	RGD:1604061	D	RGD:9068941	20260305	RGD		protein:decreased expression:blood plasma	PMID:27145233|REF_RGD_ID:634435999
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2841	asthma		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		protein:increased expression:smooth muscle cell	PMID:18208670|REF_RGD_ID:2307112
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2841	asthma		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, secretion (mouse)	PMID:20092989|REF_RGD_ID:4891430
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		DNA:transition:5' utr:-403G>A (human)	PMID:20430255|REF_RGD_ID:4891381
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:289	endometriosis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:endometrium (human)	PMID:18595729|REF_RGD_ID:2307108
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2921	glomerulonephritis		ISO	RGD:1604061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10385480
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1604061	D	RGD:9068941	20200702	RGD		protein:increased expression:bronchoalveolar lavage (human)	PMID:15888207|REF_RGD_ID:34201108
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:32364527|REF_RGD_ID:27226699
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:69127	D	RGD:9068941	20200619	RGD		mRNA, protein: increased expression, altered expression:lung, brain (mouse)	PMID:15356152|REF_RGD_ID:30309221
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2945	severe acute respiratory syndrome	severity	ISO	RGD:1604061	D	RGD:9068941	20200618	RGD		Severe Acute Respiratory Syndrome; DNA:transversion:5' utr:-28C>G (human)	PMID:19258635|REF_RGD_ID:4891448
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2945	severe acute respiratory syndrome	severity	ISO	RGD:1604061	D	RGD:9068941	20200619	RGD		protein:increased expression:plasma (human)	PMID:16195357|REF_RGD_ID:30309218
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2945	severe acute respiratory syndrome	severity	ISO	RGD:69127	D	RGD:9068941	20200618	RGD		mRNA:increased expression:lung (mouse)	PMID:32365944|REF_RGD_ID:30309207
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2945	severe acute respiratory syndrome	treatment	ISO	RGD:1604061	D	RGD:9068941	20200702	RGD			PMID:15781938|PMID:15865221|REF_RGD_ID:30309220|REF_RGD_ID:33769580
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2945	severe acute respiratory syndrome	treatment	ISO	RGD:69127	D	RGD:9068941	20200702	RGD			PMID:32553273|REF_RGD_ID:32716426
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (human)	PMID:15128813|REF_RGD_ID:4892112
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		DNA:snps:5' utr:g.-403G>A rs2280788, g.-28C>G rs2107538 (human)	PMID:19335954|REF_RGD_ID:4891879
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:2988	antiphospholipid syndrome		ISO	RGD:1604061	D	RGD:9068941	20230902	RGD		protein:increased expression:plasma	PMID:26283469|REF_RGD_ID:401794584
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased expression:breast, ductal carcinoma (human)	PMID:18790652|REF_RGD_ID:4891911
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:3021	acute kidney failure		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (mouse)	PMID:19508392|REF_RGD_ID:4889990
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased expression:ear (mouse)	PMID:15491423|REF_RGD_ID:1626251
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:3082	interstitial lung disease		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:20089076|REF_RGD_ID:4891431
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung, bronchial epithelium, submucosa (human)	PMID:19703829|REF_RGD_ID:4891477
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:3310	atopic dermatitis		ISO	RGD:1604061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased secretion:lung, alveolar macrophage (human)	PMID:19729668|REF_RGD_ID:4891476
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1604061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17620002
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased expression:lung (mouse)	PMID:20833968|REF_RGD_ID:4145112
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:glomerulus	PMID:17898087|REF_RGD_ID:2307059
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:4989	pancreatitis		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		associated with Pancreatic Neoplasms;DNA:polymorphism: :-403G>A (human)	PMID:16614115|REF_RGD_ID:2317568
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:4989	pancreatitis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas (rat)	PMID:16843865|REF_RGD_ID:2307146
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD			PMID:20978355|PMID:28011329|REF_RGD_ID:14995306|REF_RGD_ID:14995328
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		DNA:SNAP, haplotype: :rs11652536(human)	PMID:20978355|REF_RGD_ID:14995328
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:5082	liver cirrhosis	treatment	ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:28011329|REF_RGD_ID:14995306
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:5213	chronic inflammatory demyelinating polyradiculoneuropathy		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		mRNA:increased expression:sciatic nerve (mouse)	PMID:19050296|REF_RGD_ID:4890012
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1604061	D	RGD:7240710	20230505	OMIM			
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:5434	scrapie		ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:22787236|REF_RGD_ID:13782158
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:551	toxic pneumonitis	treatment	ISO	RGD:620876|RGD:620596	D	RGD:9068941	20260718	RGD			PMID:31295064|REF_RGD_ID:736797807
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:557	kidney disease		ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:15882261|REF_RGD_ID:2307176
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:5844	myocardial infarction		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart (rat)	PMID:18954648|REF_RGD_ID:4890013
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:19932032|REF_RGD_ID:4891440
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:promoter:-403G>A,-28C>G (human)	PMID:22374185|REF_RGD_ID:14995333
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		associated with alcoholic liver cirrhosis;DNA:SNP:promoter:-403G>A(human)	PMID:21610221|REF_RGD_ID:14995338
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:28011329|REF_RGD_ID:14995306
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:783	end stage renal disease		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney cortex (rat)	PMID:19535570|REF_RGD_ID:4889989
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:809	cocaine abuse	severity	ISO	RGD:1604061	D	RGD:9068941	20230902	RGD			PMID:21806491|REF_RGD_ID:401794583
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung:bronchoalveolar lavage cell (human)	PMID:10384061|REF_RGD_ID:4891436
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased secretion:lung, secretion (mouse)	PMID:16387809|REF_RGD_ID:4891434
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:850	lung disease		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:17304115|REF_RGD_ID:2307141
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:8704	genital herpes		ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:12502811|REF_RGD_ID:4890015
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor	PMID:18978347|REF_RGD_ID:2307061
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:8947	diabetic retinopathy	severity	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16249511|REF_RGD_ID:2307104
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord segment (mouse)	PMID:20478301|REF_RGD_ID:4889905
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9000310	Lung Injury		ISO	RGD:1604061	D	RGD:9068941	20250605	CTD		CTD Direct Evidence: marker/mechanism	PMID:39746565
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9000641	Pain		ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:11438578|REF_RGD_ID:2306307
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:69127	D	RGD:9068941	20200609	RGD		associated with Animal Mammary Neoplasms;	PMID:15692764|REF_RGD_ID:14995455
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9000972	Fever		ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:15066130|REF_RGD_ID:2307192
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9001488	Human Influenza		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased expression:lung (mouse)	PMID:20656925|REF_RGD_ID:4145452
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9001488	Human Influenza	susceptibility	ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:16208318|REF_RGD_ID:4892131
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1604061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver	PMID:20978355|REF_RGD_ID:14995328
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9001573	Experimental Liver Cirrhosis	disease_progression	ISO	RGD:1322355	D	RGD:9068941	20200609	RGD			PMID:25617348|REF_RGD_ID:14995329
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9001573	Experimental Liver Cirrhosis	severity	ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:20978355|REF_RGD_ID:14995328
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:22574195|REF_RGD_ID:14995337
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9002106	Pneumococcal Pneumonia	susceptibility	ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:16455992|REF_RGD_ID:4892130
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9002159	Liver Reperfusion Injury	severity	ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:28623253|REF_RGD_ID:14995305
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:28623253|REF_RGD_ID:14995305
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:urine	PMID:18326229|REF_RGD_ID:2307063
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9002165	Diabetic Nephropathies	susceptibility	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-28C>G	PMID:12610055|REF_RGD_ID:2307107
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9002211	Hyperalgesia		ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:18656466|REF_RGD_ID:2303121
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9002211	Hyperalgesia		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dorsal root ganglion (rat)	PMID:18076762|REF_RGD_ID:4890034
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:9637726|REF_RGD_ID:4889940
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:synovium, monocytes	PMID:17052673|REF_RGD_ID:2307143
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9002762	Ovarian Neoplasms	severity	ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:20400704|REF_RGD_ID:4891397
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:17666800|REF_RGD_ID:2307114
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased expression:brain (mouse)	PMID:15833367|REF_RGD_ID:4890027
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9002834	Herpesviridae Infections		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:18768196|REF_RGD_ID:4891912
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9002850	Immediate Hypersensitivity		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nasal cavity epithelium	PMID:15823807|REF_RGD_ID:2307177
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		associated with Pregnancy in Diabetics;protein:decreased expression:serum	PMID:17924206|REF_RGD_ID:2307065
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9003671	Hypoventilation		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		associated with Obesity; protein:increased secretion:serum (human)	PMID:19701463|REF_RGD_ID:4892041
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		protein:increased expression:gut	PMID:15542513|REF_RGD_ID:2307184
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased secretion:lung, secretion (mouse)	PMID:19558673|REF_RGD_ID:4891479
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver:	PMID:15770052|REF_RGD_ID:14995336
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9004017	Chronic Hepatitis C	disease_progression	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs3817656(human)	PMID:29703961|REF_RGD_ID:14995334
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9004017	Chronic Hepatitis C	severity	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-403G>A(human)	PMID:12557141|REF_RGD_ID:14995332
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype: :	PMID:15368437|REF_RGD_ID:14995340
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9004484	Sepsis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		protein:increased secretion:plasma (rat)	PMID:18290317|REF_RGD_ID:4890036
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1604061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18985009
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein, mRNA:increased expression:liver	PMID:12579535|REF_RGD_ID:14995451
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9004659	Respiration Disorders		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		Severe Acute Respiratory Syndrome; mRNA:increased expression:lung (mouse)	PMID:19906920|REF_RGD_ID:4891446
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9004912	Hyperoxaluria		ISO	RGD:1604061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16284884
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9004912	Hyperoxaluria		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		protein:increased expression:renal tubule, epithelial cell (rat)	PMID:16284884|REF_RGD_ID:2307164
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9005106	Animal Toxoplasmosis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:blood vessel endothelial cell	PMID:15710456|REF_RGD_ID:2307183
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9005372	Inflammation		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:subcutaneous tissue, granuloma (rat)	PMID:17164972|REF_RGD_ID:2307142
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9005372	Inflammation		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased secretion:lung, secretion (mouse)	PMID:19486528|REF_RGD_ID:4891481
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9005930	Endotoxemia		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16215387|REF_RGD_ID:2307171
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9006262	Cytomegalovirus Infections		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased secretion:lung, secretion (human)	PMID:18513272|REF_RGD_ID:4891916
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9006618	Liver Metastasis	treatment	ISO	RGD:69127	D	RGD:9068941	20200609	RGD		associated with Animal Mammary Neoplasms;	PMID:15692764|REF_RGD_ID:14995455
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		protein:increased secretion:plasma (rat)	PMID:19905967|REF_RGD_ID:4889977
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:19005677|REF_RGD_ID:4891884
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9006928	Viral Bronchiolitis	susceptibility	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		DNA:snp:5' utr:g.-28C>G (human)	PMID:19099677|REF_RGD_ID:4891881
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9007090	Experimental Seizures		ISO	RGD:69069	D	RGD:9068941	20230128	RGD		protein:increased expression:hippocampus, vasculature (rat)	PMID:20940264|REF_RGD_ID:4889880
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9007244	Paramyxoviridae Infections		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal mucus (human)	PMID:20182399|REF_RGD_ID:4891406
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9007417	Pseudomonas Infections		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, secretion (mouse)	PMID:20720199|REF_RGD_ID:4891951
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9007417	Pseudomonas Infections	treatment	ISO	RGD:69127	D	RGD:9068941	20200702	RGD			PMID:27175332|REF_RGD_ID:32733623
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9008103	Seasonal Allergic Rhinitis		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased expression:inferior turbinate, epithelium (human)	PMID:20459697|REF_RGD_ID:4891379
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9008113	Tissue Adhesions		ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:18707039|REF_RGD_ID:4890014
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9008163	Chronic Hepatitis B	severity	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD			PMID:17711627|REF_RGD_ID:14995339
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:18708360|REF_RGD_ID:4891915
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9351	diabetes mellitus		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18385799|REF_RGD_ID:2307062
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17966842|REF_RGD_ID:2307064
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9452	steatotic liver disease		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:28011329|REF_RGD_ID:14995306
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9452	steatotic liver disease		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:28011329|REF_RGD_ID:14995306
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9743	diabetic neuropathy		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus;protein:increased expression:serum	PMID:19276232|REF_RGD_ID:2307060
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		DNA:SNPs:rs4251719, rs2306630, rs2107538 (human)	PMID:16855620|REF_RGD_ID:2307102
8766000	Ccl5	C-C motif chemokine ligand 5	gene	DOID:9970	obesity		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18469848|REF_RGD_ID:2307038
8766008	Cic	capicua transcriptional repressor	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
8766008	Cic	capicua transcriptional repressor	gene	DOID:0050562	West syndrome		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8766008	Cic	capicua transcriptional repressor	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
8766008	Cic	capicua transcriptional repressor	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:35165976
8766008	Cic	capicua transcriptional repressor	gene	DOID:0060260	ptosis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
8766008	Cic	capicua transcriptional repressor	gene	DOID:0060307	autosomal dominant intellectual developmental disorder		ISO	RGD:1321769	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability	
8766008	Cic	capicua transcriptional repressor	gene	DOID:0060320	inguinal hernia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	
8766008	Cic	capicua transcriptional repressor	gene	DOID:0060321	umbilical hernia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	
8766008	Cic	capicua transcriptional repressor	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma	
8766008	Cic	capicua transcriptional repressor	gene	DOID:0070031	autosomal dominant intellectual developmental disorder 1		ISO	RGD:1321769	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 1	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:0070309	absence epilepsy		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:0080236	autosomal dominant intellectual developmental disorder 45		ISO	RGD:1321769	D	RGD:7240710	20190315	OMIM			
8766008	Cic	capicua transcriptional repressor	gene	DOID:0080236	autosomal dominant intellectual developmental disorder 45		ISO	RGD:1321769	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CIC-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45	PMID:25741868|PMID:28492532
8766008	Cic	capicua transcriptional repressor	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:21817013|PMID:22072542|PMID:22588899|PMID:26017892|PMID:27993330|PMID:28278156
8766008	Cic	capicua transcriptional repressor	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:10534	stomach cancer		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8766008	Cic	capicua transcriptional repressor	gene	DOID:1059	intellectual disability		ISO	RGD:1321769	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:1059	intellectual disability		ISO	RGD:1321769	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:28288114
8766008	Cic	capicua transcriptional repressor	gene	DOID:10907	microcephaly		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
8766008	Cic	capicua transcriptional repressor	gene	DOID:10908	hydrocephalus		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8766008	Cic	capicua transcriptional repressor	gene	DOID:11111	hydronephrosis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	
8766008	Cic	capicua transcriptional repressor	gene	DOID:1115	sarcoma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8766008	Cic	capicua transcriptional repressor	gene	DOID:11383	cryptorchidism		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
8766008	Cic	capicua transcriptional repressor	gene	DOID:1227	neutropenia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neutropenia	
8766008	Cic	capicua transcriptional repressor	gene	DOID:12849	autistic disorder		ISO	RGD:1321769	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28288114
8766008	Cic	capicua transcriptional repressor	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1321769	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:21817013|PMID:22072542|PMID:22588899|PMID:26017892|PMID:27993330|PMID:28278156|PMID:29844126|PMID:31323153|PMID:32978089|PMID:35101336
8766008	Cic	capicua transcriptional repressor	gene	DOID:150	disease of mental health		ISO	RGD:1321770	D	RGD:9068941	20220825	MouseDO			
8766008	Cic	capicua transcriptional repressor	gene	DOID:1697	ichthyosis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis	
8766008	Cic	capicua transcriptional repressor	gene	DOID:1826	epilepsy		ISO	RGD:1321769	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizures	
8766008	Cic	capicua transcriptional repressor	gene	DOID:1826	epilepsy		ISO	RGD:1321769	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28288114|PMID:35165976
8766008	Cic	capicua transcriptional repressor	gene	DOID:1827	generalized epilepsy		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
8766008	Cic	capicua transcriptional repressor	gene	DOID:1909	melanoma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8766008	Cic	capicua transcriptional repressor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8766008	Cic	capicua transcriptional repressor	gene	DOID:2712	phimosis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Phimosis	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:2841	asthma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
8766008	Cic	capicua transcriptional repressor	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	
8766008	Cic	capicua transcriptional repressor	gene	DOID:3070	high grade glioma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8766008	Cic	capicua transcriptional repressor	gene	DOID:3181	oligodendroglioma		ISO	RGD:1321769	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oligodendroglioma	PMID:21817013|PMID:22072542|PMID:22588899|PMID:26017892|PMID:27993330|PMID:28278156|PMID:29844126|PMID:31323153|PMID:32978089|PMID:35101336|PMID:35561840
8766008	Cic	capicua transcriptional repressor	gene	DOID:3275	thymoma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8766008	Cic	capicua transcriptional repressor	gene	DOID:3310	atopic dermatitis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	
8766008	Cic	capicua transcriptional repressor	gene	DOID:4362	cervical cancer		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8766008	Cic	capicua transcriptional repressor	gene	DOID:5041	esophageal cancer		ISO	RGD:1321769	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8766008	Cic	capicua transcriptional repressor	gene	DOID:540	strabismus		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8766008	Cic	capicua transcriptional repressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766008	Cic	capicua transcriptional repressor	gene	DOID:630	genetic disease		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:34906502
8766008	Cic	capicua transcriptional repressor	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	
8766008	Cic	capicua transcriptional repressor	gene	DOID:7154	anaplastic oligodendroglioma		ISO	RGD:1321769	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anaplastic oligodendroglioma	PMID:21817013|PMID:22072542|PMID:22588899|PMID:26017892|PMID:27993330|PMID:28278156|PMID:29844126|PMID:31323153|PMID:32978089|PMID:35101336
8766008	Cic	capicua transcriptional repressor	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hashimoto thyroiditis	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:9000184	Ventricular Fibrillation		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation	
8766008	Cic	capicua transcriptional repressor	gene	DOID:9000211	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:9000343	Vision Disorders		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	
8766008	Cic	capicua transcriptional repressor	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1321769	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:27869830
8766008	Cic	capicua transcriptional repressor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8766008	Cic	capicua transcriptional repressor	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1321769	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:18337722
8766008	Cic	capicua transcriptional repressor	gene	DOID:9002569	Overweight		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	
8766008	Cic	capicua transcriptional repressor	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:9002916	Hyperphagia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	
8766008	Cic	capicua transcriptional repressor	gene	DOID:9003132	Sialorrhea		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:9003133	Hypertelorism		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:9003507	Premature Birth		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
8766008	Cic	capicua transcriptional repressor	gene	DOID:9003816	Macrocephaly		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:9004108	Fused Kidney		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	
8766008	Cic	capicua transcriptional repressor	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321769	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:9004521	Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:9004538	Hearing Loss		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	
8766008	Cic	capicua transcriptional repressor	gene	DOID:9004865	Nuchal Cord		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nuchal cord	
8766008	Cic	capicua transcriptional repressor	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	
8766008	Cic	capicua transcriptional repressor	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonic seizure	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Decreased muscle tone | ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:35165976
8766008	Cic	capicua transcriptional repressor	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1321769	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
8766008	Cic	capicua transcriptional repressor	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	
8766008	Cic	capicua transcriptional repressor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8766008	Cic	capicua transcriptional repressor	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	
8766008	Cic	capicua transcriptional repressor	gene	DOID:9007559	Thyroglossal Cyst		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroglossal cyst	
8766008	Cic	capicua transcriptional repressor	gene	DOID:9007573	Flatfoot		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
8766008	Cic	capicua transcriptional repressor	gene	DOID:9007661	Dwarfism		ISO	RGD:1321769	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28288114
8766008	Cic	capicua transcriptional repressor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321769	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28288114
8766008	Cic	capicua transcriptional repressor	gene	DOID:9008350	NATURAL KILLER CELL ENTEROPATHY		ISO	RGD:1321769	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Natural killer cell enteropathy	
8766008	Cic	capicua transcriptional repressor	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
8766008	Cic	capicua transcriptional repressor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8766008	Cic	capicua transcriptional repressor	gene	DOID:93	language disorder		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	
8766008	Cic	capicua transcriptional repressor	gene	DOID:9970	obesity		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
8766065	Terf1	telomeric repeat binding factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8766065	Terf1	telomeric repeat binding factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8766065	Terf1	telomeric repeat binding factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323104	D	RGD:9068941	20200609	RGD		protein:increased expression:gastric mucosa (human)	PMID:20127252|REF_RGD_ID:2317220
8766065	Terf1	telomeric repeat binding factor 1	gene	DOID:1612	breast cancer		ISO	RGD:1323104	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:breast tumor (human)	PMID:18720522|REF_RGD_ID:2317222
8766065	Terf1	telomeric repeat binding factor 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1323105	D	RGD:9068941	20200609	RGD			PMID:19679647|REF_RGD_ID:2317221
8766065	Terf1	telomeric repeat binding factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766065	Terf1	telomeric repeat binding factor 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8766065	Terf1	telomeric repeat binding factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: Hepatoma	
8766081	Cdc37l1	cell division cycle 37 like 1, HSP90 cochaperone	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8766081	Cdc37l1	cell division cycle 37 like 1, HSP90 cochaperone	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8766081	Cdc37l1	cell division cycle 37 like 1, HSP90 cochaperone	gene	DOID:10534	stomach cancer		ISO	RGD:1319564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8766081	Cdc37l1	cell division cycle 37 like 1, HSP90 cochaperone	gene	DOID:1909	melanoma		ISO	RGD:1319564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8766081	Cdc37l1	cell division cycle 37 like 1, HSP90 cochaperone	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766081	Cdc37l1	cell division cycle 37 like 1, HSP90 cochaperone	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8766081	Cdc37l1	cell division cycle 37 like 1, HSP90 cochaperone	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8766081	Cdc37l1	cell division cycle 37 like 1, HSP90 cochaperone	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319564	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8766081	Cdc37l1	cell division cycle 37 like 1, HSP90 cochaperone	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8766101	Mfap4	microfibril associated protein 4	gene	DOID:1909	melanoma		ISO	RGD:1317270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8766101	Mfap4	microfibril associated protein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8766101	Mfap4	microfibril associated protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1317270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8766101	Mfap4	microfibril associated protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766101	Mfap4	microfibril associated protein 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317270	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8766101	Mfap4	microfibril associated protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8766101	Mfap4	microfibril associated protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317270	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8766113	Arhgdib	Rho GDP dissociation inhibitor beta	gene	DOID:4362	cervical cancer		ISO	RGD:1313380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8766113	Arhgdib	Rho GDP dissociation inhibitor beta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313380	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8766113	Arhgdib	Rho GDP dissociation inhibitor beta	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1313380	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8766113	Arhgdib	Rho GDP dissociation inhibitor beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766113	Arhgdib	Rho GDP dissociation inhibitor beta	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313380	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8766113	Arhgdib	Rho GDP dissociation inhibitor beta	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1313380	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
8766113	Arhgdib	Rho GDP dissociation inhibitor beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8766113	Arhgdib	Rho GDP dissociation inhibitor beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8766113	Arhgdib	Rho GDP dissociation inhibitor beta	gene	DOID:9256	colorectal cancer		ISO	RGD:1313380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8766123	Sirt1	sirtuin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8766123	Sirt1	sirtuin 1	gene	DOID:0051064	left ventricular failure		ISO	RGD:1318374	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:37030624
8766123	Sirt1	sirtuin 1	gene	DOID:0060180	colitis		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19940103|PMID:24548422|PMID:24782617
8766123	Sirt1	sirtuin 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
8766123	Sirt1	sirtuin 1	gene	DOID:0060903	thrombosis		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25339356
8766123	Sirt1	sirtuin 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:26026874
8766123	Sirt1	sirtuin 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	severity	ISO	RGD:1318374	D	RGD:9068941	20200609	RGD		associated with Obesity, Morbid;mRNA:decreased expression:visceral abdominal adipose tissue	PMID:20033348|REF_RGD_ID:9586021
8766123	Sirt1	sirtuin 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	severity	ISO	RGD:1318374	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:22902550|REF_RGD_ID:9585746
8766123	Sirt1	sirtuin 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:1308542	D	RGD:9068941	20200609	RGD			PMID:17498258|REF_RGD_ID:9585663
8766123	Sirt1	sirtuin 1	gene	DOID:0110721	neuronal ceroid lipofuscinosis 1		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21224254
8766123	Sirt1	sirtuin 1	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1318374	D	RGD:9068941	20200609	RGD			PMID:23038275|REF_RGD_ID:9585760
8766123	Sirt1	sirtuin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8766123	Sirt1	sirtuin 1	gene	DOID:10603	glucose intolerance		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21321189
8766123	Sirt1	sirtuin 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1318375	D	RGD:9068941	20200609	RGD		protein:increased expression:forebrain (mouse)	PMID:17581637|REF_RGD_ID:2290573
8766123	Sirt1	sirtuin 1	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:1318375	D	RGD:9068941	20200609	RGD			PMID:16751189|REF_RGD_ID:10047116
8766123	Sirt1	sirtuin 1	gene	DOID:1115	sarcoma		ISO	RGD:1318374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8766123	Sirt1	sirtuin 1	gene	DOID:114	heart disease		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23217256
8766123	Sirt1	sirtuin 1	gene	DOID:11476	osteoporosis	treatment	ISO	RGD:1308542	D	RGD:9068941	20200609	RGD			PMID:22555620|PMID:25377437|REF_RGD_ID:10047129|REF_RGD_ID:10053568
8766123	Sirt1	sirtuin 1	gene	DOID:12387	nephrogenic diabetes insipidus		ISO	RGD:1318375	D	RGD:9068941	20220825	MouseDO		OMIM:125800 | OMIM:304800	
8766123	Sirt1	sirtuin 1	gene	DOID:12858	Huntington's disease		ISO	RGD:1318374	D	RGD:9068941	20200609	RGD		human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human)	PMID:9949199|REF_RGD_ID:10395240
8766123	Sirt1	sirtuin 1	gene	DOID:12858	Huntington's disease		ISO	RGD:1318374	D	RGD:9068941	20200609	RGD		protein:decreased expression:frontal cortex	PMID:18538940|REF_RGD_ID:9586004
8766123	Sirt1	sirtuin 1	gene	DOID:12858	Huntington's disease		ISO	RGD:1318375	D	RGD:9068941	20200609	RGD			PMID:22179316|REF_RGD_ID:9585998
8766123	Sirt1	sirtuin 1	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17581637|PMID:17652729
8766123	Sirt1	sirtuin 1	gene	DOID:1826	epilepsy		ISO	RGD:1308542	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:23644113|REF_RGD_ID:9585747
8766123	Sirt1	sirtuin 1	gene	DOID:1826	epilepsy		ISO	RGD:1318374	D	RGD:9068941	20200609	RGD		protein:increased expression:temporal lobe	PMID:23644113|REF_RGD_ID:9585747
8766123	Sirt1	sirtuin 1	gene	DOID:1875	impotence	treatment	ISO	RGD:1308542	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:24467772|REF_RGD_ID:9495931
8766123	Sirt1	sirtuin 1	gene	DOID:1909	melanoma		ISO	RGD:1318374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8766123	Sirt1	sirtuin 1	gene	DOID:1936	atherosclerosis		ISO	RGD:1308542	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;mRNA:decreased expression:abdominal aorta	PMID:21810449|REF_RGD_ID:9585743
8766123	Sirt1	sirtuin 1	gene	DOID:1936	atherosclerosis		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20068143
8766123	Sirt1	sirtuin 1	gene	DOID:28	endocrine system disease		ISO	RGD:1318374	D	RGD:9068941	20241205	CTD		CTD Direct Evidence: marker/mechanism	PMID:38043716
8766123	Sirt1	sirtuin 1	gene	DOID:3021	acute kidney failure		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21416250
8766123	Sirt1	sirtuin 1	gene	DOID:3021	acute kidney failure	severity	ISO	RGD:1308542	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney (rat)	PMID:21416250|REF_RGD_ID:10047111
8766123	Sirt1	sirtuin 1	gene	DOID:3213	demyelinating disease		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23547115
8766123	Sirt1	sirtuin 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1318375	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord (mouse)	PMID:17581637|REF_RGD_ID:2290573
8766123	Sirt1	sirtuin 1	gene	DOID:3347	osteosarcoma		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793039
8766123	Sirt1	sirtuin 1	gene	DOID:3454	brain infarction		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22878646
8766123	Sirt1	sirtuin 1	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1318375	D	RGD:9068941	20200609	RGD			PMID:23600725|REF_RGD_ID:9585664
8766123	Sirt1	sirtuin 1	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:1308542	D	RGD:9068941	20200609	RGD			PMID:23600725|REF_RGD_ID:9585664
8766123	Sirt1	sirtuin 1	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1318374	D	RGD:9068941	20260618	RGD			PMID:23702379|REF_RGD_ID:736668118
8766123	Sirt1	sirtuin 1	gene	DOID:417	autoimmune disease		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23993977
8766123	Sirt1	sirtuin 1	gene	DOID:418	systemic scleroderma		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25707573
8766123	Sirt1	sirtuin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8766123	Sirt1	sirtuin 1	gene	DOID:4448	macular degeneration		ISO	RGD:1318374	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:retina	PMID:21890195|REF_RGD_ID:9585773
8766123	Sirt1	sirtuin 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19720090
8766123	Sirt1	sirtuin 1	gene	DOID:552	pneumonia		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24633890
8766123	Sirt1	sirtuin 1	gene	DOID:5679	retinal disease		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23217256
8766123	Sirt1	sirtuin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766123	Sirt1	sirtuin 1	gene	DOID:5844	myocardial infarction		ISO	RGD:1308542	D	RGD:9068941	20200609	RGD		protein:altered localization:nucleus	PMID:20089851|REF_RGD_ID:2316169
8766123	Sirt1	sirtuin 1	gene	DOID:6000	congestive heart failure		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24535859
8766123	Sirt1	sirtuin 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24894401
8766123	Sirt1	sirtuin 1	gene	DOID:9000040	Hypertrophy		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23297412
8766123	Sirt1	sirtuin 1	gene	DOID:9000310	Lung Injury		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24633890
8766123	Sirt1	sirtuin 1	gene	DOID:9000784	Fibrosis		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20651248
8766123	Sirt1	sirtuin 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793039
8766123	Sirt1	sirtuin 1	gene	DOID:9000998	Brain Injuries	treatment	ISO	RGD:1308542	D	RGD:9068941	20200609	RGD			PMID:17970622|REF_RGD_ID:9497541
8766123	Sirt1	sirtuin 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:26435214
8766123	Sirt1	sirtuin 1	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:1308542	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart left ventricle	PMID:21554952|REF_RGD_ID:9585770
8766123	Sirt1	sirtuin 1	gene	DOID:9001708	Hemorrhagic Shock	treatment	ISO	RGD:1308542	D	RGD:9068941	20200609	RGD			PMID:22113495|REF_RGD_ID:7240568
8766123	Sirt1	sirtuin 1	gene	DOID:9001981	Weight Loss		ISO	RGD:1318374	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: therapeutic	PMID:39719253
8766123	Sirt1	sirtuin 1	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24894820
8766123	Sirt1	sirtuin 1	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:1308542	D	RGD:9068941	20200609	RGD			PMID:24557422|REF_RGD_ID:9497542
8766123	Sirt1	sirtuin 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21062352
8766123	Sirt1	sirtuin 1	gene	DOID:9002311	Experimental Autoimmune Myocarditis	treatment	ISO	RGD:1308542	D	RGD:9068941	20200609	RGD			PMID:17322642|REF_RGD_ID:9586020
8766123	Sirt1	sirtuin 1	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24252177
8766123	Sirt1	sirtuin 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23547115
8766123	Sirt1	sirtuin 1	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17581637
8766123	Sirt1	sirtuin 1	gene	DOID:9002981	Genomic Instability		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23217256
8766123	Sirt1	sirtuin 1	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:1308542	D	RGD:9068941	20200609	RGD			PMID:25281201|REF_RGD_ID:13514043
8766123	Sirt1	sirtuin 1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1308542	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;protein:increased expression:myocardium	PMID:18192848|REF_RGD_ID:2293330
8766123	Sirt1	sirtuin 1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1308542	D	RGD:9068941	20200609	RGD		associated with Hypertension;mRNA, protein:increased expression:heart	PMID:19142216|REF_RGD_ID:9495934
8766123	Sirt1	sirtuin 1	gene	DOID:9005246	Paralysis		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23547115
8766123	Sirt1	sirtuin 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23090186|PMID:23792339
8766123	Sirt1	sirtuin 1	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:1308542	D	RGD:9068941	20200609	RGD			PMID:22179968|REF_RGD_ID:9586012
8766123	Sirt1	sirtuin 1	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:1308542	D	RGD:9068941	20200609	RGD			PMID:22324445|REF_RGD_ID:9495930
8766123	Sirt1	sirtuin 1	gene	DOID:9006302	Binge Drinking		ISO	RGD:1308542	D	RGD:9068941	20200609	RGD			PMID:24416161|REF_RGD_ID:9495933
8766123	Sirt1	sirtuin 1	gene	DOID:9006302	Binge Drinking		ISO	RGD:1308542	D	RGD:9068941	20250322	RGD		protein:decreased expression:hypothalamic microglia	PMID:30737481|REF_RGD_ID:598092506
8766123	Sirt1	sirtuin 1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1308542	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus (rat)	PMID:25356430|REF_RGD_ID:10053569
8766123	Sirt1	sirtuin 1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20068143
8766123	Sirt1	sirtuin 1	gene	DOID:9006646	Metabolic Syndrome	treatment	ISO	RGD:1308542	D	RGD:9068941	20200609	RGD			PMID:21514307|REF_RGD_ID:9585758
8766123	Sirt1	sirtuin 1	gene	DOID:9006778	Carotid Atherosclerosis		ISO	RGD:1318374	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:carotid artery segment	PMID:23224247|REF_RGD_ID:9495924
8766123	Sirt1	sirtuin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8766123	Sirt1	sirtuin 1	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22523472
8766123	Sirt1	sirtuin 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:20068143|PMID:21321189|PMID:24442997|PMID:25849131|PMID:26026874
8766123	Sirt1	sirtuin 1	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:1308542	D	RGD:9068941	20200609	RGD		associated with Obesity	PMID:19996381|REF_RGD_ID:9585759
8766123	Sirt1	sirtuin 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21060073
8766123	Sirt1	sirtuin 1	gene	DOID:9008691	Liver Injury	treatment	ISO	RGD:1308542	D	RGD:9068941	20200609	RGD		associated with Sepsis	PMID:25004063|REF_RGD_ID:9586016
8766123	Sirt1	sirtuin 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19839049
8766123	Sirt1	sirtuin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8766123	Sirt1	sirtuin 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24894401
8766123	Sirt1	sirtuin 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23834033
8766123	Sirt1	sirtuin 1	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:1308542	D	RGD:9068941	20200609	RGD			PMID:19549853|REF_RGD_ID:9585997
8766123	Sirt1	sirtuin 1	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:1318375	D	RGD:9068941	20200609	RGD		associated with Obesity	PMID:18046409|REF_RGD_ID:9585769
8766123	Sirt1	sirtuin 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:21321189|PMID:23834033|PMID:24184811|PMID:24210820|PMID:24442997
8766123	Sirt1	sirtuin 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:1318375	D	RGD:9068941	20200609	RGD		associated with Obesity	PMID:21540183|REF_RGD_ID:9585751
8766123	Sirt1	sirtuin 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:1318375	D	RGD:9068941	20220825	MouseDO		OMIM:228100	
8766123	Sirt1	sirtuin 1	gene	DOID:9669	senile cataract		ISO	RGD:1318374	D	RGD:9068941	20200609	RGD			PMID:21501079|REF_RGD_ID:10045354
8766123	Sirt1	sirtuin 1	gene	DOID:9970	obesity		ISO	RGD:1308542	D	RGD:9068941	20200609	RGD		protein:decreased expression:ovary	PMID:24135502|REF_RGD_ID:9586064
8766123	Sirt1	sirtuin 1	gene	DOID:9970	obesity		ISO	RGD:1318374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24184811
8766123	Sirt1	sirtuin 1	gene	DOID:9975	cocaine dependence		ISO	RGD:1308542	D	RGD:9068941	20231130	RGD		protein:increased expression:brain, nucleus accumbens (rat)	PMID:27664298|REF_RGD_ID:401900166
8766136	Ncaph2	non-SMC condensin II complex subunit H2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8766136	Ncaph2	non-SMC condensin II complex subunit H2	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:1601870	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION	PMID:23643385|PMID:25741868|PMID:28492532
8766136	Ncaph2	non-SMC condensin II complex subunit H2	gene	DOID:1115	sarcoma		ISO	RGD:1601870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8766136	Ncaph2	non-SMC condensin II complex subunit H2	gene	DOID:11832	visual epilepsy		ISO	RGD:1601870	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10545952|PMID:11673586|PMID:12020273|PMID:14970747|PMID:15210538|PMID:16326995|PMID:16765077|PMID:23643385|PMID:23719228|PMID:25741868|PMID:28492532
8766136	Ncaph2	non-SMC condensin II complex subunit H2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:11040282	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant	PMID:10545952|PMID:15210538|PMID:19879173|PMID:20159436|PMID:25741868|PMID:28492532
8766136	Ncaph2	non-SMC condensin II complex subunit H2	gene	DOID:1324	lung cancer		ISO	RGD:1601870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8766136	Ncaph2	non-SMC condensin II complex subunit H2	gene	DOID:1909	melanoma		ISO	RGD:1601870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8766136	Ncaph2	non-SMC condensin II complex subunit H2	gene	DOID:3070	high grade glioma		ISO	RGD:1601870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8766136	Ncaph2	non-SMC condensin II complex subunit H2	gene	DOID:4362	cervical cancer		ISO	RGD:1601870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8766136	Ncaph2	non-SMC condensin II complex subunit H2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8766136	Ncaph2	non-SMC condensin II complex subunit H2	gene	DOID:5041	esophageal cancer		ISO	RGD:1601870	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8766136	Ncaph2	non-SMC condensin II complex subunit H2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766136	Ncaph2	non-SMC condensin II complex subunit H2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8766136	Ncaph2	non-SMC condensin II complex subunit H2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8766136	Ncaph2	non-SMC condensin II complex subunit H2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601870	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8766182	Actg1	actin gamma 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8766182	Actg1	actin gamma 1	gene	DOID:0050453	lissencephaly		ISO	RGD:1312061	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: lissencephaly	PMID:25741868
8766182	Actg1	actin gamma 1	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1312061	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Non-syndromic genetic deafness	PMID:13680526|PMID:19419963|PMID:19477959|PMID:22718764|PMID:25741868|PMID:25792668|PMID:27463135|PMID:30311386|PMID:30599039|PMID:34997062
8766182	Actg1	actin gamma 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312061	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8766182	Actg1	actin gamma 1	gene	DOID:0060260	ptosis		ISO	RGD:1312061	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:22366783|PMID:25741868
8766182	Actg1	actin gamma 1	gene	DOID:0080072	intestinal pseudo-obstruction		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intestinal pseudo-obstruction	PMID:25741868
8766182	Actg1	actin gamma 1	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1312061	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract	PMID:13680526|PMID:18414213|PMID:22366783|PMID:25052316|PMID:26188271|PMID:27625340|PMID:30143558
8766182	Actg1	actin gamma 1	gene	DOID:0081112	Baraitser-Winter syndrome 1		ISO	RGD:1312061	D	RGD:8554872	20250723	ClinVar		ClinVar Annotator: match by term: Baraitser-Winter syndrome 1	PMID:25741868
8766182	Actg1	actin gamma 1	gene	DOID:0081113	Baraitser-Winter syndrome 2		ISO	RGD:1312061	D	RGD:7240710	20180130	OMIM			
8766182	Actg1	actin gamma 1	gene	DOID:0081113	Baraitser-Winter syndrome 2		ISO	RGD:1312061	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-Winter syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2	PMID:11474115|PMID:13680526|PMID:18414213|PMID:19477959|PMID:19548389|PMID:20301607|PMID:22366783|PMID:24033266|PMID:25052316|PMID:25741868|PMID:25792668|PMID:26188271|PMID:26467025|PMID:26832775|PMID:27625340|PMID:28000701|PMID:28492532|PMID:29357087|PMID:29620237|PMID:29758562|PMID:29986705|PMID:30008475|PMID:30143558|PMID:30311386|PMID:30622556|PMID:31116477|PMID:32028042|PMID:32341388|PMID:33584783|PMID:33604570|PMID:33726816|PMID:34440452|PMID:34448047|PMID:36194208|PMID:36810952|PMID:38790200
8766182	Actg1	actin gamma 1	gene	DOID:0110550	autosomal dominant nonsyndromic deafness 20		ISO	RGD:1312061	D	RGD:7240710	20180130	OMIM			
8766182	Actg1	actin gamma 1	gene	DOID:0110550	autosomal dominant nonsyndromic deafness 20		ISO	RGD:1312061	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: ACTG1-related disorder | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 20 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 20	PMID:11474115|PMID:13680526|PMID:14684684|PMID:17576681|PMID:18414213|PMID:19419963|PMID:19477959|PMID:19548389|PMID:20301607|PMID:22200607|PMID:22366783|PMID:22718764|PMID:23506231|PMID:24033266|PMID:25052316|PMID:25741868|PMID:25792668|PMID:26188271|PMID:26467025|PMID:26832775|PMID:27463135|PMID:28000701|PMID:28492532|PMID:29196752|PMID:29357087|PMID:29620237|PMID:29907799|PMID:29986705|PMID:30008475|PMID:30311386|PMID:30599039|PMID:30622556|PMID:31116477|PMID:31231230|PMID:32028042|PMID:32341388|PMID:33584783|PMID:33604570|PMID:34440452|PMID:34448047|PMID:34997062|PMID:35802133|PMID:36194208|PMID:36633841|PMID:36810952|PMID:9536098
8766182	Actg1	actin gamma 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1312061	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:13680526|PMID:19419963|PMID:19477959|PMID:22718764|PMID:25741868|PMID:25792668|PMID:27463135|PMID:28492532|PMID:30311386|PMID:30599039|PMID:34997062
8766182	Actg1	actin gamma 1	gene	DOID:1059	intellectual disability		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:30008475|PMID:33584783
8766182	Actg1	actin gamma 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1312061	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:22366783|PMID:25741868
8766182	Actg1	actin gamma 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8766182	Actg1	actin gamma 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unilateral cryptorchidism	PMID:25741868
8766182	Actg1	actin gamma 1	gene	DOID:1143	exotropia		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
8766182	Actg1	actin gamma 1	gene	DOID:11476	osteoporosis		ISO	RGD:1312061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
8766182	Actg1	actin gamma 1	gene	DOID:12270	coloboma		ISO	RGD:1312061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22366783
8766182	Actg1	actin gamma 1	gene	DOID:12849	autistic disorder		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
8766182	Actg1	actin gamma 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8766182	Actg1	actin gamma 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
8766182	Actg1	actin gamma 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
8766182	Actg1	actin gamma 1	gene	DOID:2841	asthma		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
8766182	Actg1	actin gamma 1	gene	DOID:305	carcinoma		ISO	RGD:1312061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8766182	Actg1	actin gamma 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312061	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766182	Actg1	actin gamma 1	gene	DOID:630	genetic disease		ISO	RGD:1312061	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:13680526|PMID:18414213|PMID:22366783|PMID:24033266|PMID:25052316|PMID:25741868|PMID:26188271|PMID:27625340|PMID:28492532|PMID:30143558
8766182	Actg1	actin gamma 1	gene	DOID:6364	migraine		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868
8766182	Actg1	actin gamma 1	gene	DOID:870	neuropathy		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868|PMID:28492532
8766182	Actg1	actin gamma 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1312061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8766182	Actg1	actin gamma 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532|PMID:29357087|PMID:29620237
8766182	Actg1	actin gamma 1	gene	DOID:9001581	Constipation		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
8766182	Actg1	actin gamma 1	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1312061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
8766182	Actg1	actin gamma 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:27240540
8766182	Actg1	actin gamma 1	gene	DOID:9004369	Hypesthesia		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoesthesia	PMID:25741868|PMID:28492532
8766182	Actg1	actin gamma 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312061	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:22366783|PMID:25741868
8766182	Actg1	actin gamma 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1312061	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:19477959|PMID:20301607|PMID:24033266|PMID:25741868|PMID:25792668|PMID:28492532|PMID:30311386
8766182	Actg1	actin gamma 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1312061	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:11474115|PMID:19477959|PMID:20301607|PMID:24033266|PMID:25741868|PMID:25792668|PMID:26832775|PMID:28492532|PMID:29357087|PMID:29620237|PMID:30311386|PMID:36194208
8766182	Actg1	actin gamma 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	
8766182	Actg1	actin gamma 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1312061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8766182	Actg1	actin gamma 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8766182	Actg1	actin gamma 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8766182	Actg1	actin gamma 1	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:25741868
8766182	Actg1	actin gamma 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1312061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22366783
8766182	Actg1	actin gamma 1	gene	DOID:9006617	Fatigue		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	
8766182	Actg1	actin gamma 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312061	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8766182	Actg1	actin gamma 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1312061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25401301
8766182	Actg1	actin gamma 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:30008475|PMID:33584783
8766182	Actg1	actin gamma 1	gene	DOID:9008385	Vomiting		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868
8766182	Actg1	actin gamma 1	gene	DOID:9008589	Hallux Valgus		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	PMID:25741868
8766182	Actg1	actin gamma 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1312061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22366783
8766192	Atp5mk	ATP synthase membrane subunit k	gene	DOID:0111749	mitochondrial complex V (ATP synthase) deficiency nuclear type 6		ISO	RGD:1347198	D	RGD:7240710	20191211	OMIM			
8766192	Atp5mk	ATP synthase membrane subunit k	gene	DOID:0111749	mitochondrial complex V (ATP synthase) deficiency nuclear type 6		ISO	RGD:1347198	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6	
8766192	Atp5mk	ATP synthase membrane subunit k	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8766192	Atp5mk	ATP synthase membrane subunit k	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8766192	Atp5mk	ATP synthase membrane subunit k	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766212	Rufy2	RUN and FYVE domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8766212	Rufy2	RUN and FYVE domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8766212	Rufy2	RUN and FYVE domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8766212	Rufy2	RUN and FYVE domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1312074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8766212	Rufy2	RUN and FYVE domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8766212	Rufy2	RUN and FYVE domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766212	Rufy2	RUN and FYVE domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8766212	Rufy2	RUN and FYVE domain containing 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8766212	Rufy2	RUN and FYVE domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8766212	Rufy2	RUN and FYVE domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8766212	Rufy2	RUN and FYVE domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8766255	Slc46a3	solute carrier family 46 member 3	gene	DOID:10283	prostate cancer		ISO	RGD:1606669	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8766255	Slc46a3	solute carrier family 46 member 3	gene	DOID:10283	prostate cancer		ISO	RGD:1606669	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8766255	Slc46a3	solute carrier family 46 member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8766255	Slc46a3	solute carrier family 46 member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1606669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8766255	Slc46a3	solute carrier family 46 member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8766255	Slc46a3	solute carrier family 46 member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1606669	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8766255	Slc46a3	solute carrier family 46 member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8766282	Il6	interleukin 6	gene	DOID:0040084	Streptococcus pneumonia		ISO	RGD:10802	D	RGD:9068941	20201117	RGD		protein:increased expression:lung,natural killer cell (mouse)	PMID:21887255|REF_RGD_ID:40818252
8766282	Il6	interleukin 6	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:10374863|REF_RGD_ID:11060275
8766282	Il6	interleukin 6	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1352582	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	
8766282	Il6	interleukin 6	gene	DOID:0050625	biliary tract benign neoplasm		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:18159174|REF_RGD_ID:2317165
8766282	Il6	interleukin 6	gene	DOID:0050685	small cell carcinoma	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20592377|REF_RGD_ID:4143263
8766282	Il6	interleukin 6	gene	DOID:0050697	chorioamnionitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with  Premature Birth;protein:increased expression:tracheal aspirate fluid:	PMID:25011638|REF_RGD_ID:12791291
8766282	Il6	interleukin 6	gene	DOID:0050697	chorioamnionitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression: cervicovaginal fluid :	PMID:25687566|REF_RGD_ID:12792243
8766282	Il6	interleukin 6	gene	DOID:0050697	chorioamnionitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:15547537|REF_RGD_ID:5128667
8766282	Il6	interleukin 6	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10716473
8766282	Il6	interleukin 6	gene	DOID:0050742	nicotine dependence		ISO	RGD:1352582	D	RGD:9068941	20241107	CTD		CTD Direct Evidence: marker/mechanism	PMID:28864214
8766282	Il6	interleukin 6	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20668869|REF_RGD_ID:4143251
8766282	Il6	interleukin 6	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:24625449|REF_RGD_ID:9589120
8766282	Il6	interleukin 6	gene	DOID:0051061	stroke		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18319729
8766282	Il6	interleukin 6	gene	DOID:0051061	stroke		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:14512079|REF_RGD_ID:1580486
8766282	Il6	interleukin 6	gene	DOID:0051064	left ventricular failure		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16286589
8766282	Il6	interleukin 6	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26297436
8766282	Il6	interleukin 6	gene	DOID:0060180	colitis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22410118|PMID:24548422
8766282	Il6	interleukin 6	gene	DOID:0060496	respiratory allergy		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18394133
8766282	Il6	interleukin 6	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:1352582	D	RGD:7240710	20260729	OMIM			
8766282	Il6	interleukin 6	gene	DOID:0060901	lymphoplasmacytic lymphoma		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human)	PMID:19573080|REF_RGD_ID:11049165
8766282	Il6	interleukin 6	gene	DOID:0060901	lymphoplasmacytic lymphoma	no_association	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:19573080|REF_RGD_ID:11049165
8766282	Il6	interleukin 6	gene	DOID:0070658	alcohol-associated liver disease	sexual_dimorphism	ISO	RGD:2901	D	RGD:9068941	20250403	RGD		protein:increased expression:liver	PMID:12878926|REF_RGD_ID:598108047
8766282	Il6	interleukin 6	gene	DOID:0070658	alcohol-associated liver disease	treatment	ISO	RGD:2901	D	RGD:9068941	20250424	RGD			PMID:27576501|PMID:31116255|REF_RGD_ID:407424600|REF_RGD_ID:598148158
8766282	Il6	interleukin 6	gene	DOID:0080199	colorectal carcinoma	treatment	ISO	RGD:2901	D	RGD:9068941	20210611	RGD			PMID:29229353|REF_RGD_ID:127284843
8766282	Il6	interleukin 6	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:rs10499563, rs1800795 (human)	PMID:27730688|REF_RGD_ID:14975293
8766282	Il6	interleukin 6	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver,plasma	PMID:18510618|REF_RGD_ID:7829808
8766282	Il6	interleukin 6	gene	DOID:0080333	aortic valve disease 1	severity	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:23969418|REF_RGD_ID:12792206
8766282	Il6	interleukin 6	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-174G>C (human)	PMID:28852433|REF_RGD_ID:14975143
8766282	Il6	interleukin 6	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	ameliorates	ISO	RGD:10802	D	RGD:9068941	20210702	RGD			PMID:28100771|REF_RGD_ID:127285675
8766282	Il6	interleukin 6	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:2901	D	RGD:9068941	20250410	RGD			PMID:31861497|REF_RGD_ID:598130071
8766282	Il6	interleukin 6	gene	DOID:0080599	Coronavirus infectious disease		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		Severe Acute Respiratory Syndrome;protein:increased expression:lung	PMID:19906920|REF_RGD_ID:4891446
8766282	Il6	interleukin 6	gene	DOID:0080600	COVID-19		ISO	RGD:1352582	D	RGD:9068941	20200618	RGD		protein:increased expression:serum:	PMID:32416070|REF_RGD_ID:30296676
8766282	Il6	interleukin 6	gene	DOID:0080600	COVID-19		ISO	RGD:1352582	D	RGD:9068941	20200820	RGD		protein:increased expression:plasma (human)	PMID:32696007|REF_RGD_ID:38501088
8766282	Il6	interleukin 6	gene	DOID:0080600	COVID-19		ISO	RGD:1352582	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:32026671|PMID:32161940|PMID:32171193|PMID:32534021
8766282	Il6	interleukin 6	gene	DOID:0080600	COVID-19	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200618	RGD			PMID:32407836|REF_RGD_ID:30309206
8766282	Il6	interleukin 6	gene	DOID:0080600	COVID-19	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200618	RGD		associated with diabetes mellitus	PMID:32345579|REF_RGD_ID:30296681
8766282	Il6	interleukin 6	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1352582	D	RGD:9068941	20200619	RGD		protein:increased expression:plasma (human)	PMID:31986264|REF_RGD_ID:30309212
8766282	Il6	interleukin 6	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1352582	D	RGD:9068941	20200625	RGD		associated with cardiovascular system disease;protein:increased expression:blood (human)	PMID:32456948|REF_RGD_ID:30309957
8766282	Il6	interleukin 6	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1352582	D	RGD:9068941	20200625	RGD		protein:increased expression:blood (human)	PMID:32181911|REF_RGD_ID:30310230
8766282	Il6	interleukin 6	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1352582	D	RGD:9068941	20200723	RGD		protein:increased expression:serum (human)	PMID:32125452|PMID:32164089|PMID:32227274|PMID:32297828|PMID:32365221|PMID:32427582|PMID:32434211|REF_RGD_ID:27095965|REF_RGD_ID:27226695|REF_RGD_ID:30309200|REF_RGD_ID:30310229|REF_RGD_ID:30310238|REF_RGD_ID:32716368|REF_RGD_ID:36049814
8766282	Il6	interleukin 6	gene	DOID:0080642	Middle East respiratory syndrome		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:32364527|REF_RGD_ID:27226699
8766282	Il6	interleukin 6	gene	DOID:0080642	Middle East respiratory syndrome		ISO	RGD:10802	D	RGD:9068941	20200618	RGD			PMID:30626685|REF_RGD_ID:30309198
8766282	Il6	interleukin 6	gene	DOID:0080642	Middle East respiratory syndrome		ISO	RGD:10802	D	RGD:9068941	20200625	RGD		protein:increased expression:serum:	PMID:30634407|REF_RGD_ID:30309958
8766282	Il6	interleukin 6	gene	DOID:0080743	transverse myelitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, cerebral spinal fluid:	PMID:20128675|REF_RGD_ID:7829722
8766282	Il6	interleukin 6	gene	DOID:0080745	polymyositis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7979221
8766282	Il6	interleukin 6	gene	DOID:0080998	acute necrotizing pancreatitis		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:19050604|REF_RGD_ID:11062108
8766282	Il6	interleukin 6	gene	DOID:0080998	acute necrotizing pancreatitis	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:11780340|REF_RGD_ID:11062058
8766282	Il6	interleukin 6	gene	DOID:0111157	Castleman disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15182131
8766282	Il6	interleukin 6	gene	DOID:10140	dry eye syndrome	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with arthritis,rehumatoid arthritis;DNA:polymorphims:promoter:-174G>C(human)	PMID:18419107|REF_RGD_ID:7829751
8766282	Il6	interleukin 6	gene	DOID:10247	pleurisy		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11181422
8766282	Il6	interleukin 6	gene	DOID:10322	berylliosis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8428540
8766282	Il6	interleukin 6	gene	DOID:10325	silicosis	treatment	ISO	RGD:10802	D	RGD:9068941	20260214	RGD			PMID:39550922|REF_RGD_ID:632518405
8766282	Il6	interleukin 6	gene	DOID:10534	stomach cancer		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:30610790|REF_RGD_ID:14975253
8766282	Il6	interleukin 6	gene	DOID:10534	stomach cancer		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2069837 (human)	PMID:27049718|REF_RGD_ID:14975290
8766282	Il6	interleukin 6	gene	DOID:10534	stomach cancer		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs1800796, rs10499563 (human)	PMID:28442395|REF_RGD_ID:14975291
8766282	Il6	interleukin 6	gene	DOID:10534	stomach cancer		ISO	RGD:1352582	D	RGD:9068941	20210528	RGD		human cells in mouse model;associated with mental depression; protein:increased expression:blood serum, stomach (human)	PMID:31396300|REF_RGD_ID:126908003
8766282	Il6	interleukin 6	gene	DOID:10534	stomach cancer	no_association	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs6949149 (human)	PMID:28442395|REF_RGD_ID:14975291
8766282	Il6	interleukin 6	gene	DOID:10591	pre-eclampsia	ameliorates	ISO	RGD:2901	D	RGD:9068941	20230323	RGD			PMID:31203154|REF_RGD_ID:213230155
8766282	Il6	interleukin 6	gene	DOID:10608	celiac disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human)	PMID:18692934|REF_RGD_ID:2307292
8766282	Il6	interleukin 6	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:27088818|REF_RGD_ID:11062148
8766282	Il6	interleukin 6	gene	DOID:1073	renal hypertension		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22188107|REF_RGD_ID:6907405
8766282	Il6	interleukin 6	gene	DOID:10754	otitis media		IEP		D	RGD:11553900|PMID:10085040	20161017	RGD			
8766282	Il6	interleukin 6	gene	DOID:10754	otitis media	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-174G>C(human)	PMID:17908769|REF_RGD_ID:7365054
8766282	Il6	interleukin 6	gene	DOID:10763	hypertension		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)	PMID:19043252|REF_RGD_ID:2307283
8766282	Il6	interleukin 6	gene	DOID:10763	hypertension		ISO	RGD:1352582	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:27292124|PMID:27659729|PMID:27847271|PMID:32147540|PMID:32165127
8766282	Il6	interleukin 6	gene	DOID:10763	hypertension		ISO	RGD:1352582	D	RGD:9068941	20230720	RGD		protein:increased expression:blood serum (human)	PMID:26502942|REF_RGD_ID:329955577
8766282	Il6	interleukin 6	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200806	RGD		associated with end stage renal disease; DNA:polymorphisms:promoter: -174G>C (human)	PMID:12846758|REF_RGD_ID:1580485
8766282	Il6	interleukin 6	gene	DOID:10873	Kuhnt-Junius degeneration		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:aqueous humor:	PMID:22490043|REF_RGD_ID:7829793
8766282	Il6	interleukin 6	gene	DOID:10914	amnestic disorder		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9189931
8766282	Il6	interleukin 6	gene	DOID:10941	intracranial aneurysm		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:16648144|REF_RGD_ID:1580488
8766282	Il6	interleukin 6	gene	DOID:10964	cholesteatoma of middle ear		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Otitis Media;protein:increased expression:ear:	PMID:21311206|REF_RGD_ID:7364848
8766282	Il6	interleukin 6	gene	DOID:10964	cholesteatoma of middle ear		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:ear:	PMID:8652157|REF_RGD_ID:7829727
8766282	Il6	interleukin 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8766282	Il6	interleukin 6	gene	DOID:11168	anogenital venereal wart		ISO	RGD:1352582	D	RGD:9068941	20201105	RGD		protein:decreased expression:peripheral blood mononuclear cells (human)	PMID:23754510|REF_RGD_ID:40400714
8766282	Il6	interleukin 6	gene	DOID:1123	spondyloarthropathy		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:9489833|REF_RGD_ID:7829742
8766282	Il6	interleukin 6	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16613997|REF_RGD_ID:11049462
8766282	Il6	interleukin 6	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:16932226|REF_RGD_ID:11062099
8766282	Il6	interleukin 6	gene	DOID:11247	disseminated intravascular coagulation	severity	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Hemorrhagic Fever, Crimean	PMID:16518755|REF_RGD_ID:10450536
8766282	Il6	interleukin 6	gene	DOID:11247	disseminated intravascular coagulation	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:16810104|REF_RGD_ID:11060278
8766282	Il6	interleukin 6	gene	DOID:11446	sciatic neuropathy		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal root ganglion	PMID:20519054|REF_RGD_ID:5128675
8766282	Il6	interleukin 6	gene	DOID:11476	osteoporosis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15995586
8766282	Il6	interleukin 6	gene	DOID:11563	retinal vasculitis		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:19834028|REF_RGD_ID:11039401
8766282	Il6	interleukin 6	gene	DOID:11714	gestational diabetes		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:extracellular space (human)	PMID:19408175|REF_RGD_ID:2307186
8766282	Il6	interleukin 6	gene	DOID:11716	prediabetes syndrome		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:extracellular space (human)	PMID:19442860|REF_RGD_ID:2307180
8766282	Il6	interleukin 6	gene	DOID:11758	iron deficiency anemia		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat)	PMID:18808386|REF_RGD_ID:11062011
8766282	Il6	interleukin 6	gene	DOID:11758	iron deficiency anemia	treatment	ISO	RGD:2901	D	RGD:9068941	20250327	RGD			PMID:31524964|REF_RGD_ID:598092517
8766282	Il6	interleukin 6	gene	DOID:11832	visual epilepsy		ISO	RGD:1352582	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:12836160
8766282	Il6	interleukin 6	gene	DOID:1205	allergic disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8766282	Il6	interleukin 6	gene	DOID:12157	aseptic meningitis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10888991
8766282	Il6	interleukin 6	gene	DOID:12236	primary biliary cholangitis	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20240801	RGD		protein:increased expression:blood serum (human)	PMID:21275501|REF_RGD_ID:407420272
8766282	Il6	interleukin 6	gene	DOID:12241	beta thalassemia		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:23905873|REF_RGD_ID:11041617
8766282	Il6	interleukin 6	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:2901	D	RGD:9068941	20250417	RGD			PMID:35733194|REF_RGD_ID:598130075
8766282	Il6	interleukin 6	gene	DOID:12361	Graves' disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16372246
8766282	Il6	interleukin 6	gene	DOID:12361	Graves' disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-572C>G(human)	PMID:21235536|REF_RGD_ID:7829719
8766282	Il6	interleukin 6	gene	DOID:12361	Graves' disease	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:12818091|REF_RGD_ID:7829750
8766282	Il6	interleukin 6	gene	DOID:12466	secondary hyperparathyroidism		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21350317
8766282	Il6	interleukin 6	gene	DOID:12554	hemolytic-uremic syndrome		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15384034
8766282	Il6	interleukin 6	gene	DOID:12678	hypercalcemia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10638776
8766282	Il6	interleukin 6	gene	DOID:12704	ataxia telangiectasia	severity	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:26851119|REF_RGD_ID:11529801
8766282	Il6	interleukin 6	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Otitis media;protein:increased expression:serum:	PMID:19352211|REF_RGD_ID:8142352
8766282	Il6	interleukin 6	gene	DOID:1273	respiratory syncytial virus infectious disease	severity	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal mucus	PMID:20622030|REF_RGD_ID:4143259
8766282	Il6	interleukin 6	gene	DOID:12835	quadriplegia	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with males:DNA:SNPs, haplotype: : rs1800796, rs2069837(human)	PMID:23415255|REF_RGD_ID:12792240
8766282	Il6	interleukin 6	gene	DOID:12849	autistic disorder		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8964908
8766282	Il6	interleukin 6	gene	DOID:12849	autistic disorder	treatment	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:26418275|REF_RGD_ID:12792236
8766282	Il6	interleukin 6	gene	DOID:12858	Huntington's disease	treatment	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:11860469|REF_RGD_ID:10402809
8766282	Il6	interleukin 6	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12836160
8766282	Il6	interleukin 6	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:11426023|REF_RGD_ID:7829718
8766282	Il6	interleukin 6	gene	DOID:12894	Sjogren's syndrome	severity	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphims:promoter:-174G>C(human)	PMID:11426023|REF_RGD_ID:7829718
8766282	Il6	interleukin 6	gene	DOID:12895	keratoconjunctivitis sicca		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Sjogren's Syndrome;mRNA,protein:increased expression:conjunctiva:	PMID:10487957|REF_RGD_ID:7829756
8766282	Il6	interleukin 6	gene	DOID:13141	uveitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:1544781|REF_RGD_ID:7829806
8766282	Il6	interleukin 6	gene	DOID:13141	uveitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Behcet Syndrome;protein:increased expression:serum:	PMID:15209464|REF_RGD_ID:7387294
8766282	Il6	interleukin 6	gene	DOID:13141	uveitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:aqueous humor:	PMID:10420202|REF_RGD_ID:7829723
8766282	Il6	interleukin 6	gene	DOID:13141	uveitis		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:eye	PMID:1544781|REF_RGD_ID:7829806
8766282	Il6	interleukin 6	gene	DOID:13197	nodular goiter		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16372246
8766282	Il6	interleukin 6	gene	DOID:13241	Behcet's disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased secretion:monocyte:	PMID:8164212|REF_RGD_ID:7829752
8766282	Il6	interleukin 6	gene	DOID:13580	cholestasis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22461449
8766282	Il6	interleukin 6	gene	DOID:13593	eclampsia	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:27106269|REF_RGD_ID:11062145
8766282	Il6	interleukin 6	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28789951
8766282	Il6	interleukin 6	gene	DOID:1389	polyneuropathy		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)	PMID:19131463|REF_RGD_ID:2307274
8766282	Il6	interleukin 6	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23274713
8766282	Il6	interleukin 6	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:1352582	D	RGD:9068941	20250123	RGD			PMID:21236309|REF_RGD_ID:597538491
8766282	Il6	interleukin 6	gene	DOID:14018	alcoholic liver cirrhosis	treatment	ISO	RGD:2901	D	RGD:9068941	20250417	RGD			PMID:28320086|REF_RGD_ID:598130086
8766282	Il6	interleukin 6	gene	DOID:14330	Parkinson's disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21318773
8766282	Il6	interleukin 6	gene	DOID:1470	major depressive disorder		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic;DNA:SNP, haplotype:promoter:-174G>C (human)	PMID:30734130|REF_RGD_ID:14975122
8766282	Il6	interleukin 6	gene	DOID:1474	aggressive periodontitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-174G>C (human)	PMID:28662328|REF_RGD_ID:14975139
8766282	Il6	interleukin 6	gene	DOID:1485	cystic fibrosis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:16403491|REF_RGD_ID:5128672
8766282	Il6	interleukin 6	gene	DOID:1485	cystic fibrosis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:20438838|REF_RGD_ID:4143275
8766282	Il6	interleukin 6	gene	DOID:1532	pleural disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21357438
8766282	Il6	interleukin 6	gene	DOID:1574	alcohol use disorder		ISO	RGD:1352582	D	RGD:9068941	20250123	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:26208141|REF_RGD_ID:11342768
8766282	Il6	interleukin 6	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:2901	D	RGD:9068941	20250417	RGD			PMID:28320086|PMID:29685140|PMID:30926569|PMID:31524964|PMID:31840601|REF_RGD_ID:598092517|REF_RGD_ID:598092587|REF_RGD_ID:598092600|REF_RGD_ID:598130077|REF_RGD_ID:598130086
8766282	Il6	interleukin 6	gene	DOID:1580	diffuse scleroderma	treatment	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:20338043|REF_RGD_ID:12792275
8766282	Il6	interleukin 6	gene	DOID:1588	thrombocytopenia	severity	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Malaria, Vivax	PMID:25128199|REF_RGD_ID:11041893
8766282	Il6	interleukin 6	gene	DOID:1596	depressive disorder		ISO	RGD:10802	D	RGD:9068941	20210507	RGD		protein:increased expression:serum, hippocampus (mouse)	PMID:31396300|REF_RGD_ID:126908003
8766282	Il6	interleukin 6	gene	DOID:1596	depressive disorder		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18458677
8766282	Il6	interleukin 6	gene	DOID:1596	depressive disorder		ISO	RGD:1352582	D	RGD:9068941	20200924	RGD		associated with Chronic Hepatitis C; DNA:insertion/deletion:promoter:	PMID:23571152|REF_RGD_ID:38676480
8766282	Il6	interleukin 6	gene	DOID:1596	depressive disorder		ISO	RGD:1352582	D	RGD:9068941	20210528	RGD		associated with gastric adenocarcinoma; protein:increased expression:blood serum (human)	PMID:31396300|REF_RGD_ID:126908003
8766282	Il6	interleukin 6	gene	DOID:1596	depressive disorder		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		mRNA:increased expression:colon	PMID:23589140|REF_RGD_ID:10402829
8766282	Il6	interleukin 6	gene	DOID:1596	depressive disorder		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus (rat)	PMID:27106565|REF_RGD_ID:11062144
8766282	Il6	interleukin 6	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic;DNA:SNP:promoter:-174G>C (human)	PMID:28083615|REF_RGD_ID:14975286
8766282	Il6	interleukin 6	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism::rs2069832(human)	PMID:17594514|REF_RGD_ID:7829720
8766282	Il6	interleukin 6	gene	DOID:1687	neovascular glaucoma	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Retinal Vein Occlusion;protein:increased expression:aqueous humor:	PMID:10509659|REF_RGD_ID:7829814
8766282	Il6	interleukin 6	gene	DOID:1727	retinal vein occlusion		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:21487926|REF_RGD_ID:5490120
8766282	Il6	interleukin 6	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26372664
8766282	Il6	interleukin 6	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1352582	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
8766282	Il6	interleukin 6	gene	DOID:1793	pancreatic cancer		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:30610790|REF_RGD_ID:14975253
8766282	Il6	interleukin 6	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:30304975|REF_RGD_ID:14975257
8766282	Il6	interleukin 6	gene	DOID:1826	epilepsy		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:brain,plasma	PMID:28303499|REF_RGD_ID:13524859
8766282	Il6	interleukin 6	gene	DOID:1875	impotence	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:21492407|REF_RGD_ID:10402827
8766282	Il6	interleukin 6	gene	DOID:1875	impotence	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:24467772|REF_RGD_ID:9495931
8766282	Il6	interleukin 6	gene	DOID:1883	hepatitis C		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs1474348, rs1800796, rs1800797 (human)	PMID:28340949|REF_RGD_ID:14975144
8766282	Il6	interleukin 6	gene	DOID:1883	hepatitis C	no_association	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:28340949|REF_RGD_ID:14975144
8766282	Il6	interleukin 6	gene	DOID:1924	hypogonadism		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Pancreatic Neoplasms	PMID:20221887|REF_RGD_ID:2317160
8766282	Il6	interleukin 6	gene	DOID:1936	atherosclerosis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19330073
8766282	Il6	interleukin 6	gene	DOID:1936	atherosclerosis	ameliorates	ISO	RGD:10802	D	RGD:9068941	20230330	RGD			PMID:35854140|REF_RGD_ID:242905195
8766282	Il6	interleukin 6	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:10802	D	RGD:9068941	20230930	RGD			PMID:29593532|REF_RGD_ID:401827839
8766282	Il6	interleukin 6	gene	DOID:1993	rectum cancer	treatment	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:28272402|REF_RGD_ID:14975288
8766282	Il6	interleukin 6	gene	DOID:2018	hyperinsulinism		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)	PMID:19375766|REF_RGD_ID:2307250
8766282	Il6	interleukin 6	gene	DOID:2043	hepatitis B		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-174C>G (human)	PMID:27268603|REF_RGD_ID:14975295
8766282	Il6	interleukin 6	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21227906
8766282	Il6	interleukin 6	gene	DOID:2316	brain ischemia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15829914|PMID:17394460
8766282	Il6	interleukin 6	gene	DOID:2355	anemia		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		associated with Colonic Neoplasms;protein:increased expression:serum (mouse)	PMID:19265263|REF_RGD_ID:11060277
8766282	Il6	interleukin 6	gene	DOID:2355	anemia		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		associated with Inflammation	PMID:24357729|REF_RGD_ID:11041614
8766282	Il6	interleukin 6	gene	DOID:2377	multiple sclerosis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:24155968|REF_RGD_ID:12792202
8766282	Il6	interleukin 6	gene	DOID:2377	multiple sclerosis	severity	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-572 G>C(human)	PMID:23202972|REF_RGD_ID:12791288
8766282	Il6	interleukin 6	gene	DOID:2377	multiple sclerosis	treatment	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-174G>C(human)	PMID:26285213|REF_RGD_ID:11079567
8766282	Il6	interleukin 6	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22108589
8766282	Il6	interleukin 6	gene	DOID:26	pancreas disease		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		insulitis associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (mouse)	PMID:18772604|REF_RGD_ID:2307287
8766282	Il6	interleukin 6	gene	DOID:2797	idiopathic interstitial pneumonia		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:bronchoalveolar lavage (rat)	PMID:10988147|REF_RGD_ID:11062092
8766282	Il6	interleukin 6	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:20393404|REF_RGD_ID:4143277
8766282	Il6	interleukin 6	gene	DOID:2841	asthma		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:20840469|PMID:21115736|REF_RGD_ID:4143265|REF_RGD_ID:5128630
8766282	Il6	interleukin 6	gene	DOID:2841	asthma		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29902480
8766282	Il6	interleukin 6	gene	DOID:2841	asthma		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Hypersensitivity;protein:increased expression:sputum	PMID:20816188|REF_RGD_ID:4143266
8766282	Il6	interleukin 6	gene	DOID:2841	asthma		ISO	RGD:2901	D	RGD:9068941	20211126	RGD		protein:increased expression:lung	PMID:20658762|REF_RGD_ID:4143271
8766282	Il6	interleukin 6	gene	DOID:2841	asthma		ISO	RGD:2901	D	RGD:9068941	20260226	RGD		mRNA, protein:increased expression:lung	PMID:35202642|REF_RGD_ID:632527159
8766282	Il6	interleukin 6	gene	DOID:2862	glucosephosphate dehydrogenase deficiency		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-174G>C (human)	PMID:15718915|REF_RGD_ID:11049178
8766282	Il6	interleukin 6	gene	DOID:2921	glomerulonephritis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9403216
8766282	Il6	interleukin 6	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:32364527|REF_RGD_ID:27226699
8766282	Il6	interleukin 6	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1352582	D	RGD:9068941	20200702	RGD		protein:increased expression:bronchoalveolar lavage (human)	PMID:15888207|REF_RGD_ID:34201108
8766282	Il6	interleukin 6	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1352582	D	RGD:9068941	20200702	RGD		protein:increased expression:serum (human)	PMID:15271897|REF_RGD_ID:32716401
8766282	Il6	interleukin 6	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:2901	D	RGD:9068941	20200702	RGD		protein:increased expression:serum, Bronchoalveolar Lavage fluid (rat)	PMID:16409721|REF_RGD_ID:32726073
8766282	Il6	interleukin 6	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200702	RGD		protein:increased expression:blood (human)	PMID:15472864|REF_RGD_ID:34888224
8766282	Il6	interleukin 6	gene	DOID:2945	severe acute respiratory syndrome	severity	ISO	RGD:1352582	D	RGD:9068941	20200619	RGD		protein:increased expression:serum (human)	PMID:15657466|REF_RGD_ID:30309219
8766282	Il6	interleukin 6	gene	DOID:2945	severe acute respiratory syndrome	treatment	ISO	RGD:10802	D	RGD:9068941	20230302	RGD			PMID:32553273|REF_RGD_ID:32716426
8766282	Il6	interleukin 6	gene	DOID:2945	severe acute respiratory syndrome	treatment	ISO	RGD:1352582	D	RGD:9068941	20230302	RGD			PMID:15865221|REF_RGD_ID:33769580
8766282	Il6	interleukin 6	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:20624776|REF_RGD_ID:4143257
8766282	Il6	interleukin 6	gene	DOID:2987	familial Mediterranean fever		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20518740|REF_RGD_ID:5686880
8766282	Il6	interleukin 6	gene	DOID:3021	acute kidney failure		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21570986
8766282	Il6	interleukin 6	gene	DOID:3021	acute kidney failure		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Acute Lung Injury;protein:increased expression:plasma	PMID:18074478|REF_RGD_ID:5128661
8766282	Il6	interleukin 6	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28864214|PMID:29329563|PMID:31349846
8766282	Il6	interleukin 6	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:20819268|REF_RGD_ID:4143243
8766282	Il6	interleukin 6	gene	DOID:3087	gingivitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus; protein:increased expression:extracellular space (human)	PMID:19186972|REF_RGD_ID:2307265
8766282	Il6	interleukin 6	gene	DOID:319	spinal cord disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:30327453|REF_RGD_ID:14975119
8766282	Il6	interleukin 6	gene	DOID:3229	gastric dilatation		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:30249047|REF_RGD_ID:14975138
8766282	Il6	interleukin 6	gene	DOID:326	ischemia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18091701
8766282	Il6	interleukin 6	gene	DOID:331	central nervous system disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Behcet Snydorme;protein:increased activity:cerebral spinal fluid:	PMID:9000037|REF_RGD_ID:7829731
8766282	Il6	interleukin 6	gene	DOID:3310	atopic dermatitis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437
8766282	Il6	interleukin 6	gene	DOID:3388	periodontal disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human)	PMID:19017034|REF_RGD_ID:2307284
8766282	Il6	interleukin 6	gene	DOID:3388	periodontal disease	severity	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:17286759|REF_RGD_ID:1601585
8766282	Il6	interleukin 6	gene	DOID:3393	coronary artery disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)	PMID:19368923|REF_RGD_ID:2307251
8766282	Il6	interleukin 6	gene	DOID:341	peripheral vascular disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Metabolic Syndrome X; protein:increased expression:extracellular space (human)	PMID:19397692|REF_RGD_ID:2307191
8766282	Il6	interleukin 6	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12374626|PMID:21940958|PMID:25257527
8766282	Il6	interleukin 6	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:29498696|REF_RGD_ID:13792833
8766282	Il6	interleukin 6	gene	DOID:3526	cerebral infarction	treatment	ISO	RGD:10802	D	RGD:9068941	20220930	RGD			PMID:29111308|REF_RGD_ID:155260331
8766282	Il6	interleukin 6	gene	DOID:37	skin disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22533443
8766282	Il6	interleukin 6	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1352582	D	RGD:9068941	20210507	RGD		protein:increased expression:blood serum (human)	PMID:31396300|REF_RGD_ID:126908003
8766282	Il6	interleukin 6	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:20846163|REF_RGD_ID:4143241
8766282	Il6	interleukin 6	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17266442|PMID:25216247
8766282	Il6	interleukin 6	gene	DOID:3825	Shwartzman phenomenon	treatment	ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:1381315|REF_RGD_ID:11060272
8766282	Il6	interleukin 6	gene	DOID:417	autoimmune disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19077085
8766282	Il6	interleukin 6	gene	DOID:418	systemic scleroderma	treatment	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:23406616|REF_RGD_ID:12792238
8766282	Il6	interleukin 6	gene	DOID:4195	hyperglycemia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29035695
8766282	Il6	interleukin 6	gene	DOID:4195	hyperglycemia		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (human)	PMID:18608123|REF_RGD_ID:2307291
8766282	Il6	interleukin 6	gene	DOID:4195	hyperglycemia		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		fasting glucose associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human)	PMID:18752089|REF_RGD_ID:2307290
8766282	Il6	interleukin 6	gene	DOID:4251	conjunctival disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		conjunctivochalasis;protein:increased expression:tear:	PMID:19158563|REF_RGD_ID:7829815
8766282	Il6	interleukin 6	gene	DOID:4449	macular retinal edema		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Retinal vein occlusion;protein:increased expression:vitreous:	PMID:22066978|REF_RGD_ID:7829760
8766282	Il6	interleukin 6	gene	DOID:4449	macular retinal edema		ISO	RGD:1352582	D	RGD:9068941	20221014	RGD		associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human)	PMID:35799735|REF_RGD_ID:155582223
8766282	Il6	interleukin 6	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7834629
8766282	Il6	interleukin 6	gene	DOID:4677	keratitis	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype:promoter:-174 G>C,&#8722;572 C/G(human)	PMID:22503230|REF_RGD_ID:7829772
8766282	Il6	interleukin 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352582	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:17621267
8766282	Il6	interleukin 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352582	D	RGD:9068941	20250724	RGD			PMID:15011822|REF_RGD_ID:2317167
8766282	Il6	interleukin 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352582	D	RGD:9068941	20250724	RGD		protein:increased expression:serum	PMID:28925763|REF_RGD_ID:14975292
8766282	Il6	interleukin 6	gene	DOID:5082	liver cirrhosis		ISO	RGD:1352582	D	RGD:9068941	20250605	CTD		CTD Direct Evidence: marker/mechanism	PMID:12830005|PMID:38685136
8766282	Il6	interleukin 6	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:1768380|REF_RGD_ID:10449449
8766282	Il6	interleukin 6	gene	DOID:5327	retinal detachment		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Retinal vein occlusion;protein:increased expression:aqueous humor,vitreous fluid:	PMID:21978265|REF_RGD_ID:7829821
8766282	Il6	interleukin 6	gene	DOID:5327	retinal detachment		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous:	PMID:1800167|REF_RGD_ID:7829748
8766282	Il6	interleukin 6	gene	DOID:5419	schizophrenia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8067274
8766282	Il6	interleukin 6	gene	DOID:5425	ovarian hyperstimulation syndrome		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, ascites (human)	PMID:9322101|REF_RGD_ID:11062135
8766282	Il6	interleukin 6	gene	DOID:5463	cochlear disease		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:29304389|REF_RGD_ID:13792837
8766282	Il6	interleukin 6	gene	DOID:551	toxic pneumonitis	treatment	ISO	RGD:2905|RGD:2906	D	RGD:9068941	20260718	RGD			PMID:31295064|REF_RGD_ID:736797807
8766282	Il6	interleukin 6	gene	DOID:552	pneumonia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8766282	Il6	interleukin 6	gene	DOID:552	pneumonia	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:20595152|REF_RGD_ID:4140400
8766282	Il6	interleukin 6	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18270703
8766282	Il6	interleukin 6	gene	DOID:576	proteinuria		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:extracellular space (human)	PMID:19377212|REF_RGD_ID:2307194
8766282	Il6	interleukin 6	gene	DOID:5773	oral submucous fibrosis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28984080
8766282	Il6	interleukin 6	gene	DOID:5844	myocardial infarction		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15883752|PMID:16310260
8766282	Il6	interleukin 6	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:2901	D	RGD:9068941	20241116	RGD			PMID:31734577|REF_RGD_ID:408418726
8766282	Il6	interleukin 6	gene	DOID:6000	congestive heart failure		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15135663|PMID:16360360
8766282	Il6	interleukin 6	gene	DOID:6000	congestive heart failure		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:28939262|REF_RGD_ID:14975271
8766282	Il6	interleukin 6	gene	DOID:6000	congestive heart failure		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat)	PMID:18999900|REF_RGD_ID:2307285
8766282	Il6	interleukin 6	gene	DOID:6000	congestive heart failure		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Hypertension;mRNA:increased expression:heart	PMID:18280594|REF_RGD_ID:5128682
8766282	Il6	interleukin 6	gene	DOID:6432	pulmonary hypertension		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:20693255|REF_RGD_ID:4143246
8766282	Il6	interleukin 6	gene	DOID:6432	pulmonary hypertension	ameliorates	ISO	RGD:2901	D	RGD:9068941	20240912	RGD			PMID:38602915|REF_RGD_ID:407450417
8766282	Il6	interleukin 6	gene	DOID:6432	pulmonary hypertension	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:20713898|REF_RGD_ID:4142530
8766282	Il6	interleukin 6	gene	DOID:670	amphetamine abuse		ISO	RGD:2901	D	RGD:9068941	20250327	RGD		mRNA:increased expression:ventral tegmental area	PMID:31282647|REF_RGD_ID:598092520
8766282	Il6	interleukin 6	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1352582	D	RGD:7240710	20260729	OMIM			
8766282	Il6	interleukin 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8766282	Il6	interleukin 6	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:10802	D	RGD:9068941	20210423	RGD		mRNA,protein:increased expression:liver, blood serum (mouse)	PMID:26569409|REF_RGD_ID:11344640
8766282	Il6	interleukin 6	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2069852 (human)	PMID:27368337|REF_RGD_ID:14975289
8766282	Il6	interleukin 6	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:2901	D	RGD:9068941	20241205	RGD			PMID:29486150|REF_RGD_ID:127285672
8766282	Il6	interleukin 6	gene	DOID:699	mitochondrial myopathy		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7979221
8766282	Il6	interleukin 6	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:26339141|REF_RGD_ID:12792209
8766282	Il6	interleukin 6	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19192274|PMID:22450443
8766282	Il6	interleukin 6	gene	DOID:7188	autoimmune thyroiditis	severity	ISO	RGD:10802	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (mouse)	PMID:19301205|REF_RGD_ID:2307256
8766282	Il6	interleukin 6	gene	DOID:783	end stage renal disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19539174
8766282	Il6	interleukin 6	gene	DOID:801	hemarthrosis	treatment	ISO	RGD:10802	D	RGD:9068941	20200609	RGD		associated with Hemophilia A	PMID:23413986|REF_RGD_ID:11060150
8766282	Il6	interleukin 6	gene	DOID:820	myocarditis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25396421
8766282	Il6	interleukin 6	gene	DOID:824	periodontitis	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		chronic periodontitis	PMID:17209781|REF_RGD_ID:1601588
8766282	Il6	interleukin 6	gene	DOID:824	periodontitis	treatment	ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:27795360|REF_RGD_ID:14975132
8766282	Il6	interleukin 6	gene	DOID:8283	peritonitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:26601826|REF_RGD_ID:14975296
8766282	Il6	interleukin 6	gene	DOID:8463	corneal ulcer		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Arthritis,Rheumatoid;mRNA:increased expression:keratocyte:	PMID:12714388|REF_RGD_ID:7829721
8766282	Il6	interleukin 6	gene	DOID:8483	retinal artery occlusion		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:19421412|REF_RGD_ID:7829809
8766282	Il6	interleukin 6	gene	DOID:8483	retinal artery occlusion	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism>promoter:-174G>C(human)	PMID:15604420|REF_RGD_ID:7829798
8766282	Il6	interleukin 6	gene	DOID:850	lung disease		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		Acute Lung Injury associated with Endotoxemia;protein:increased expression:lung	PMID:20639460|REF_RGD_ID:4143256
8766282	Il6	interleukin 6	gene	DOID:850	lung disease		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		Acute Lung Injury associated with Sepsis	PMID:20845074|REF_RGD_ID:4143242
8766282	Il6	interleukin 6	gene	DOID:850	lung disease		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		Ventilator-Induced Lung Injury;protein:increased expression:lung	PMID:20683250|REF_RGD_ID:4143249
8766282	Il6	interleukin 6	gene	DOID:850	lung disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:15547537|REF_RGD_ID:5128667
8766282	Il6	interleukin 6	gene	DOID:850	lung disease		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		Acute Lung Injury associated with Pancreatitis	PMID:20709317|REF_RGD_ID:5134961
8766282	Il6	interleukin 6	gene	DOID:850	lung disease	severity	ISO	RGD:2901	D	RGD:9068941	20200609	RGD		Acute Lung Injury;mRNA:increased expression:lung	PMID:20818231|REF_RGD_ID:4143244
8766282	Il6	interleukin 6	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:19573080|REF_RGD_ID:11049165
8766282	Il6	interleukin 6	gene	DOID:8567	Hodgkin's lymphoma	treatment	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:21466366|REF_RGD_ID:11049168
8766282	Il6	interleukin 6	gene	DOID:8574	lichen disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18393961
8766282	Il6	interleukin 6	gene	DOID:8632	Kaposi's sarcoma		ISO	RGD:1352582	D	RGD:7240710	20260729	OMIM			
8766282	Il6	interleukin 6	gene	DOID:8677	perinatal necrotizing enterocolitis	treatment	ISO	RGD:2901	D	RGD:9068941	20211126	RGD			PMID:20501441|REF_RGD_ID:2324672
8766282	Il6	interleukin 6	gene	DOID:8680	alcoholic gastritis	treatment	ISO	RGD:2901	D	RGD:9068941	20250424	RGD			PMID:24972622|REF_RGD_ID:10401897
8766282	Il6	interleukin 6	gene	DOID:874	bacterial pneumonia	severity	ISO	RGD:10802	D	RGD:9068941	20200820	RGD			PMID:25398094|REF_RGD_ID:38501102
8766282	Il6	interleukin 6	gene	DOID:8778	Crohn's disease		ISO	RGD:1352582	D	RGD:7240710	20260729	OMIM			
8766282	Il6	interleukin 6	gene	DOID:8869	neuromyelitis optica	severity	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, cerebral spinal fluid:	PMID:20128675|REF_RGD_ID:7829722
8766282	Il6	interleukin 6	gene	DOID:8893	psoriasis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16844318
8766282	Il6	interleukin 6	gene	DOID:8927	learning disability	disease_progression	ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:9037082|REF_RGD_ID:7829733
8766282	Il6	interleukin 6	gene	DOID:893	Wilson disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25002079
8766282	Il6	interleukin 6	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)	PMID:18988929|REF_RGD_ID:2307272
8766282	Il6	interleukin 6	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Typpe 1;protein:increased expression:serum:	PMID:17725274|REF_RGD_ID:7829749
8766282	Il6	interleukin 6	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus; DNA:polymorphism:promoter:-174G>C (human)	PMID:19140096|REF_RGD_ID:2307267
8766282	Il6	interleukin 6	gene	DOID:8947	diabetic retinopathy	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type1;DNA:polymorphism:promoter:-174G>C(human)	PMID:19542902|REF_RGD_ID:7829816
8766282	Il6	interleukin 6	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:27085942|PMID:29691718|REF_RGD_ID:11062150|REF_RGD_ID:14975124
8766282	Il6	interleukin 6	gene	DOID:9000053	Headache		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7537110
8766282	Il6	interleukin 6	gene	DOID:9000099	Experimental Colitis		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:16630696|REF_RGD_ID:8662978
8766282	Il6	interleukin 6	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:27096537|REF_RGD_ID:11062146
8766282	Il6	interleukin 6	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:16133010|REF_RGD_ID:11062139
8766282	Il6	interleukin 6	gene	DOID:9000109	Haemophilus Infections		ISO	RGD:10802	D	RGD:9068941	20260226	RGD		protein:increased expression:lung	PMID:33778054|REF_RGD_ID:632527160
8766282	Il6	interleukin 6	gene	DOID:9000113	Pneumococcal Meningitis		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:25443778|REF_RGD_ID:9831197
8766282	Il6	interleukin 6	gene	DOID:9000113	Pneumococcal Meningitis	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:11581077|PMID:8943431|REF_RGD_ID:11060264|REF_RGD_ID:11062107
8766282	Il6	interleukin 6	gene	DOID:9000146	Plaque, Atherosclerotic	ameliorates	ISO	RGD:10802	D	RGD:9068941	20230831	RGD			PMID:28062499|REF_RGD_ID:329955458
8766282	Il6	interleukin 6	gene	DOID:9000197	Edema		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19874808
8766282	Il6	interleukin 6	gene	DOID:9000197	Edema		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		diabetic macular edema associated with Diabetes Mellitus; protein:increased expression:extracellular space (human)	PMID:19118698|REF_RGD_ID:2306981
8766282	Il6	interleukin 6	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23593346
8766282	Il6	interleukin 6	gene	DOID:9000220	Coxsackievirus Infections		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25396421
8766282	Il6	interleukin 6	gene	DOID:9000222	neutrophilic asthma		ISO	RGD:1352582	D	RGD:9068941	20260226	RGD		protein:increased expression:sputum, blood serum	PMID:34825300|REF_RGD_ID:632518367
8766282	Il6	interleukin 6	gene	DOID:9000310	Lung Injury		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19762220
8766282	Il6	interleukin 6	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27157545
8766282	Il6	interleukin 6	gene	DOID:9000469	Viral Myocarditis	severity	ISO	RGD:10802	D	RGD:9068941	20231026	RGD		mRNA:increased expression:heart (mouse)	PMID:25998987|REF_RGD_ID:401850594
8766282	Il6	interleukin 6	gene	DOID:9000471	Vibrio Vulnificus Infection	treatment	ISO	RGD:2901	D	RGD:9068941	20250123	RGD		associated with Alcoholic Liver Diseases	PMID:19781370|REF_RGD_ID:597538490
8766282	Il6	interleukin 6	gene	DOID:9000540	HIV Wasting Syndrome		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7979221
8766282	Il6	interleukin 6	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:2901	D	RGD:9068941	20230720	RGD		associated with periodontal disease	PMID:33364953|REF_RGD_ID:329956421
8766282	Il6	interleukin 6	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1352582	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937440|PMID:26101800
8766282	Il6	interleukin 6	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:1352582	D	RGD:9068941	20210611	RGD		associated with stomach cancer, human cells in mouse model	PMID:28186964|REF_RGD_ID:127229952
8766282	Il6	interleukin 6	gene	DOID:9000972	Fever		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11852909|PMID:15384034|PMID:7537110
8766282	Il6	interleukin 6	gene	DOID:9000972	Fever		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:22042912|REF_RGD_ID:7241096
8766282	Il6	interleukin 6	gene	DOID:9000998	Brain Injuries		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19800810|PMID:21549006|PMID:23159883
8766282	Il6	interleukin 6	gene	DOID:9000998	Brain Injuries		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid (rat)	PMID:10027774|REF_RGD_ID:11049549
8766282	Il6	interleukin 6	gene	DOID:9001103	Heat Stress Disorders		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:23993269|REF_RGD_ID:11060279
8766282	Il6	interleukin 6	gene	DOID:9001131	stress-related disorder		ISO	RGD:2901	D	RGD:9068941	20250327	RGD		associated with binge drinking; mRNA:increased expression:hippocampus	PMID:29458194|REF_RGD_ID:598092572
8766282	Il6	interleukin 6	gene	DOID:9001191	Cadmium Poisoning		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		in males;protein:increased expression, increased activity:plasma (rat)	PMID:19462680|REF_RGD_ID:11060270
8766282	Il6	interleukin 6	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	ISO	RGD:2901	D	RGD:9068941	20250327	RGD		mRNA:increased expression:visceral adipose	PMID:29089335|REF_RGD_ID:21410183
8766282	Il6	interleukin 6	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:21492407|REF_RGD_ID:10402827
8766282	Il6	interleukin 6	gene	DOID:9001488	Human Influenza		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:20731583|REF_RGD_ID:4143268
8766282	Il6	interleukin 6	gene	DOID:9001542	Albuminuria		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17167242
8766282	Il6	interleukin 6	gene	DOID:9001553	Spinal Cord Compression		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid, serum	PMID:30327453|REF_RGD_ID:14975119
8766282	Il6	interleukin 6	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:10802	D	RGD:9068941	20201023	RGD		mRNA:increased expression:liver (mouse)	PMID:28465467|REF_RGD_ID:39939037
8766282	Il6	interleukin 6	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:2901	D	RGD:9068941	20220331	RGD			PMID:24383550|PMID:30346985|REF_RGD_ID:10450610|REF_RGD_ID:151665755
8766282	Il6	interleukin 6	gene	DOID:9001585	Intraventricular Hemorrhage		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Premature Birth;protein:increased expression:serum:	PMID:22906886|REF_RGD_ID:12792208
8766282	Il6	interleukin 6	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26297436
8766282	Il6	interleukin 6	gene	DOID:9001586	Experimental Liver Neoplasms	disease_progression	ISO	RGD:10802	D	RGD:9068941	20210423	RGD		protein:increased expression:blood serum (mouse)	PMID:26569409|REF_RGD_ID:11344640
8766282	Il6	interleukin 6	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21192278
8766282	Il6	interleukin 6	gene	DOID:9001665	Aneurysm		ISO	RGD:1352582	D	RGD:9068941	20240808	CTD		CTD Direct Evidence: marker/mechanism	PMID:34796763
8766282	Il6	interleukin 6	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23305094
8766282	Il6	interleukin 6	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1352582	D	RGD:9068941	20220922	RGD		protein:increased expression:blood serum (human)	PMID:32178736|REF_RGD_ID:155230830
8766282	Il6	interleukin 6	gene	DOID:9001686	Acute Coronary Syndrome	treatment	ISO	RGD:2901	D	RGD:9068941	20220922	RGD			PMID:32178736|REF_RGD_ID:155230830
8766282	Il6	interleukin 6	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21192278
8766282	Il6	interleukin 6	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:21168948|REF_RGD_ID:5128673
8766282	Il6	interleukin 6	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:2901	D	RGD:9068941	20250424	RGD		associated with Alcoholic Intoxication; protein:increased expression:serum	PMID:24163503|REF_RGD_ID:598148159
8766282	Il6	interleukin 6	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina:	PMID:16530172|REF_RGD_ID:7829807
8766282	Il6	interleukin 6	gene	DOID:9002096	Foot Injuries		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:18988309|REF_RGD_ID:8662979
8766282	Il6	interleukin 6	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:20643849|REF_RGD_ID:4143255
8766282	Il6	interleukin 6	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:10802	D	RGD:9068941	20230629	RGD			PMID:34144219|PMID:34400126|REF_RGD_ID:329812011|REF_RGD_ID:329902072
8766282	Il6	interleukin 6	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:10802	D	RGD:9068941	20220930	RGD			PMID:32155285|REF_RGD_ID:155260323
8766282	Il6	interleukin 6	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:24752458|REF_RGD_ID:11062134
8766282	Il6	interleukin 6	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:2901	D	RGD:9068941	20250424	RGD		associated with alcoholic hepatitis	PMID:22019745|REF_RGD_ID:598147059
8766282	Il6	interleukin 6	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:2901	D	RGD:9068941	20250424	RGD		associated with steatotic liver disease	PMID:31483550|REF_RGD_ID:598147058
8766282	Il6	interleukin 6	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)	PMID:18716362|REF_RGD_ID:2307282
8766282	Il6	interleukin 6	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; protein:increased expression:kidney (rat)	PMID:19052104|REF_RGD_ID:2307281
8766282	Il6	interleukin 6	gene	DOID:9002165	Diabetic Nephropathies	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type1;DNA:polymorphism:promoter:-174G>C(human)	PMID:19542902|REF_RGD_ID:7829816
8766282	Il6	interleukin 6	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10401557|PMID:18652822|PMID:7582491
8766282	Il6	interleukin 6	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Foot Injuries; protein:increased expression:serum:	PMID:18988309|REF_RGD_ID:8662979
8766282	Il6	interleukin 6	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dorsal root ganglion	PMID:23953943|REF_RGD_ID:10402830
8766282	Il6	interleukin 6	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18006695
8766282	Il6	interleukin 6	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:10870116|REF_RGD_ID:11522755
8766282	Il6	interleukin 6	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15672864|PMID:17196171|PMID:19011039|PMID:19240160|PMID:25970160
8766282	Il6	interleukin 6	gene	DOID:9002311	Experimental Autoimmune Myocarditis	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:26339812|REF_RGD_ID:11062109
8766282	Il6	interleukin 6	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20131233|PMID:20974942|PMID:22450443
8766282	Il6	interleukin 6	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:10381487|REF_RGD_ID:11049553
8766282	Il6	interleukin 6	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:23503893|PMID:24028507|PMID:8607900|REF_RGD_ID:10755447|REF_RGD_ID:11049551|REF_RGD_ID:11060267
8766282	Il6	interleukin 6	gene	DOID:9002633	Premature Obstetric Labor		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20610570|PMID:22122352
8766282	Il6	interleukin 6	gene	DOID:9002676	Cerebral Hemorrhage	ameliorates	ISO	RGD:2901	D	RGD:9068941	20230504	RGD			PMID:31376096|REF_RGD_ID:329337378
8766282	Il6	interleukin 6	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19401270
8766282	Il6	interleukin 6	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:23322593|REF_RGD_ID:12791289
8766282	Il6	interleukin 6	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:oligodendrocytes (rat)	PMID:9358769|REF_RGD_ID:2307412
8766282	Il6	interleukin 6	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:16429448|REF_RGD_ID:7829818
8766282	Il6	interleukin 6	gene	DOID:9002936	Bile Duct Neoplasms	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17617204|REF_RGD_ID:2317166
8766282	Il6	interleukin 6	gene	DOID:9003104	Intracranial Hemorrhages	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter -174G>C(human)	PMID:15331795|REF_RGD_ID:12792203
8766282	Il6	interleukin 6	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8766282	Il6	interleukin 6	gene	DOID:9003369	Strongylida Infections		ISO	RGD:1352582	D	RGD:9068941	20260226	RGD		associated with Latent Tuberculosis, protein:decreased expression:blood plasma	PMID:26542223|REF_RGD_ID:632518403
8766282	Il6	interleukin 6	gene	DOID:9003507	Premature Birth		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26055944
8766282	Il6	interleukin 6	gene	DOID:9003676	Brain Hypoxia-Ischemia	severity	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :174G>C(human)	PMID:22117975|REF_RGD_ID:12792241
8766282	Il6	interleukin 6	gene	DOID:9003688	Toxoplasma Chorioretinitis	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-174G>C(human)	PMID:23336844|REF_RGD_ID:7829805
8766282	Il6	interleukin 6	gene	DOID:9003730	Chemical Burns		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22533443
8766282	Il6	interleukin 6	gene	DOID:9003737	Ascorbic Acid Deficiency		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (rat)	PMID:9566989|REF_RGD_ID:1643102
8766282	Il6	interleukin 6	gene	DOID:9003817	Sudden Hearing Loss		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:11189185|REF_RGD_ID:7394753
8766282	Il6	interleukin 6	gene	DOID:9003817	Sudden Hearing Loss	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.C572G(human)	PMID:22385075|REF_RGD_ID:8547982
8766282	Il6	interleukin 6	gene	DOID:9003828	Klebsiella Infections	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:8432613|REF_RGD_ID:11062093
8766282	Il6	interleukin 6	gene	DOID:9003871	Venous Thrombosis	treatment	ISO	RGD:2901	D	RGD:9068941	20260530	RGD			PMID:23833374|REF_RGD_ID:730454716
8766282	Il6	interleukin 6	gene	DOID:9003936	Cardiomegaly		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:heart	PMID:15542404|REF_RGD_ID:1581939
8766282	Il6	interleukin 6	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:20659747|REF_RGD_ID:4143253
8766282	Il6	interleukin 6	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15829914|PMID:17032661|PMID:18258783|PMID:19673871|PMID:21940958
8766282	Il6	interleukin 6	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:20680426|REF_RGD_ID:4143250
8766282	Il6	interleukin 6	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:rs1800795 (human)	PMID:27812403|REF_RGD_ID:14975294
8766282	Il6	interleukin 6	gene	DOID:9004210	Tympanic Membrane Perforation		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tympanic membrane:	PMID:24012216|REF_RGD_ID:8547981
8766282	Il6	interleukin 6	gene	DOID:9004484	Sepsis		ISO	RGD:1352582	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:32062619
8766282	Il6	interleukin 6	gene	DOID:9004484	Sepsis		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:27598601|REF_RGD_ID:14975121
8766282	Il6	interleukin 6	gene	DOID:9004484	Sepsis		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA, protein:increased expression:liver, extracellular space (rat)	PMID:19079684|REF_RGD_ID:2307280
8766282	Il6	interleukin 6	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:25317848|REF_RGD_ID:11062009
8766282	Il6	interleukin 6	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26037280
8766282	Il6	interleukin 6	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1352582	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:26101800|PMID:26284488
8766282	Il6	interleukin 6	gene	DOID:9004590	Acute Liver Failure	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:27085796|REF_RGD_ID:11062151
8766282	Il6	interleukin 6	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1352582	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:32062619
8766282	Il6	interleukin 6	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:bronchoalveolar lavage, blood, lung (rat)	PMID:19995278|REF_RGD_ID:11062103
8766282	Il6	interleukin 6	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:2901	D	RGD:9068941	20260219	RGD			PMID:31693211|REF_RGD_ID:632522751
8766282	Il6	interleukin 6	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:2901	D	RGD:9068941	20260409	RGD		associated with burns	PMID:22360954|REF_RGD_ID:645122548
8766282	Il6	interleukin 6	gene	DOID:9004649	Heat Stroke		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24039931
8766282	Il6	interleukin 6	gene	DOID:9004713	Acute-Phase Reaction		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:7678052|REF_RGD_ID:11060262
8766282	Il6	interleukin 6	gene	DOID:9004786	Carbon Tetrachloride Poisoning	treatment	ISO	RGD:2901	D	RGD:9068941	20250417	RGD			PMID:26081032|REF_RGD_ID:598130074
8766282	Il6	interleukin 6	gene	DOID:9004912	Hyperoxaluria		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16284884
8766282	Il6	interleukin 6	gene	DOID:9004914	Postmenopausal Osteoporosis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9032749
8766282	Il6	interleukin 6	gene	DOID:9004932	Eales Disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:22025890|REF_RGD_ID:7829790
8766282	Il6	interleukin 6	gene	DOID:9004932	Eales Disease	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-174G>C(human)	PMID:22025890|REF_RGD_ID:7829790
8766282	Il6	interleukin 6	gene	DOID:9004965	opiate withdrawal syndrome	treatment	ISO	RGD:2901	D	RGD:9068941	20250417	RGD			PMID:37112606|REF_RGD_ID:598130076
8766282	Il6	interleukin 6	gene	DOID:9004983	Fetal Inflammatory Response Syndrome		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Premature Birth;	PMID:24832219|REF_RGD_ID:12801490
8766282	Il6	interleukin 6	gene	DOID:9005106	Animal Toxoplasmosis		ISO	RGD:10802	D	RGD:9068941	20200820	RGD		mRNA:increased expression:placenta:	PMID:21923716|REF_RGD_ID:38501105
8766282	Il6	interleukin 6	gene	DOID:9005149	Ovary Reperfusion Injury	treatment	ISO	RGD:2901	D	RGD:9068941	20260718	RGD			PMID:38453769|REF_RGD_ID:736797808
8766282	Il6	interleukin 6	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26372664
8766282	Il6	interleukin 6	gene	DOID:9005372	Inflammation		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11181422|PMID:16227999|PMID:19762220|PMID:19803787|PMID:20056584|PMID:20578705|PMID:20816778|PMID:21467745|PMID:23159501|PMID:23371441|PMID:26297436
8766282	Il6	interleukin 6	gene	DOID:9005372	Inflammation	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:25319517|REF_RGD_ID:11060261
8766282	Il6	interleukin 6	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:24582317|REF_RGD_ID:11049554
8766282	Il6	interleukin 6	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138235
8766282	Il6	interleukin 6	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:18976114|REF_RGD_ID:2306984
8766282	Il6	interleukin 6	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:extracellular space (rat)	PMID:19328014|REF_RGD_ID:2307252
8766282	Il6	interleukin 6	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:heart	PMID:20555424|REF_RGD_ID:4142788
8766282	Il6	interleukin 6	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2901	D	RGD:9068941	20250410	RGD			PMID:28085064|REF_RGD_ID:598130069
8766282	Il6	interleukin 6	gene	DOID:9005749	Necrosis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7608651
8766282	Il6	interleukin 6	gene	DOID:9005882	Spine Osteoarthritis		ISO	RGD:1352582	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34697729
8766282	Il6	interleukin 6	gene	DOID:9005930	Endotoxemia		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:21396682|REF_RGD_ID:5147765
8766282	Il6	interleukin 6	gene	DOID:9005930	Endotoxemia		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; Protein:increased expression:extracellular space (rat)	PMID:19449282|REF_RGD_ID:2307179
8766282	Il6	interleukin 6	gene	DOID:9005930	Endotoxemia		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (rat)	PMID:22227956|REF_RGD_ID:6893482
8766282	Il6	interleukin 6	gene	DOID:9005930	Endotoxemia		ISO	RGD:2901	D	RGD:9068941	20250501	RGD		protein:increased expression:plasma, pituitary, adrenal, spleen	PMID:10235303|REF_RGD_ID:598148179
8766282	Il6	interleukin 6	gene	DOID:9006024	Hypotension		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15217654|PMID:15384034
8766282	Il6	interleukin 6	gene	DOID:9006102	Right Ventricular Hypertrophy	treatment	ISO	RGD:2901	D	RGD:9068941	20230803	RGD		associated with pulmonary arterial hypertension	PMID:26959484|REF_RGD_ID:329969898
8766282	Il6	interleukin 6	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced	ameliorates	ISO	RGD:2901	D	RGD:9068941	20240912	RGD			PMID:38602915|REF_RGD_ID:407450417
8766282	Il6	interleukin 6	gene	DOID:9006223	Kidney Reperfusion Injury	ameliorates	ISO	RGD:10802	D	RGD:9068941	20230601	RGD			PMID:24920753|REF_RGD_ID:329845564
8766282	Il6	interleukin 6	gene	DOID:9006302	Binge Drinking		ISO	RGD:2901	D	RGD:9068941	20250322	RGD		protein:increased expression:hypothalamic microglia	PMID:30737481|REF_RGD_ID:598092506
8766282	Il6	interleukin 6	gene	DOID:9006302	Binge Drinking		ISO	RGD:2901	D	RGD:9068941	20250327	RGD		mRNA:increased expression:amygdala,hippocampus	PMID:29458194|REF_RGD_ID:598092572
8766282	Il6	interleukin 6	gene	DOID:9006302	Binge Drinking	treatment	ISO	RGD:2901	D	RGD:9068941	20250403	RGD			PMID:29260441|REF_RGD_ID:598099561
8766282	Il6	interleukin 6	gene	DOID:9006358	Postoperative Cognitive Dysfunction		ISO	RGD:2901	D	RGD:9068941	20240208	RGD		protein:increased expression:hippocampus (rat)	PMID:33390808|REF_RGD_ID:401965467
8766282	Il6	interleukin 6	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:2901	D	RGD:9068941	20250313	RGD			PMID:28684969|PMID:30221701|REF_RGD_ID:597538492|REF_RGD_ID:597931096
8766282	Il6	interleukin 6	gene	DOID:9006607	Hemifacial Spasm		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:30684712|REF_RGD_ID:14975126
8766282	Il6	interleukin 6	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16644639
8766282	Il6	interleukin 6	gene	DOID:9006741	Acute Hepatitis	disease_progression	ISO	RGD:10802	D	RGD:9068941	20210423	RGD		protein:increased expression:blood serum (mouse)	PMID:26569409|REF_RGD_ID:11344640
8766282	Il6	interleukin 6	gene	DOID:9006771	Chronic Rhinosinusitis		ISO	RGD:1352582	D	RGD:9068941	20251106	RGD		mRNA:increased expression:nasal cavity mucosa	PMID:33115854|REF_RGD_ID:629006538
8766282	Il6	interleukin 6	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1352582	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:31557154
8766282	Il6	interleukin 6	gene	DOID:9006827	Lung Reperfusion Injury	ameliorates	ISO	RGD:10802	D	RGD:9068941	20220915	RGD			PMID:34238924|REF_RGD_ID:153350155
8766282	Il6	interleukin 6	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:respiratory system fluid/secretion	PMID:14738241|REF_RGD_ID:5128668
8766282	Il6	interleukin 6	gene	DOID:9006966	Pseudomonas Aeruginosa Keratitis		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:11349084|REF_RGD_ID:7829813
8766282	Il6	interleukin 6	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16286589
8766282	Il6	interleukin 6	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15044820
8766282	Il6	interleukin 6	gene	DOID:9007346	Cachexia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17878525
8766282	Il6	interleukin 6	gene	DOID:9007346	Cachexia		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Leukemia, T-Cell;protein:increased activity:plasma (rat)	PMID:9110147|REF_RGD_ID:11062106
8766282	Il6	interleukin 6	gene	DOID:9007355	Hashimoto Disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16372246
8766282	Il6	interleukin 6	gene	DOID:9007355	Hashimoto Disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-572C>G(human)	PMID:21235536|REF_RGD_ID:7829719
8766282	Il6	interleukin 6	gene	DOID:9007367	Septic Peritonitis		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:19897171|REF_RGD_ID:11062137
8766282	Il6	interleukin 6	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15763341|PMID:7532385
8766282	Il6	interleukin 6	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:29091898|REF_RGD_ID:15090820
8766282	Il6	interleukin 6	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:2901	D	RGD:9068941	20250329	RGD			PMID:29091898|PMID:30926569|REF_RGD_ID:15090820|REF_RGD_ID:598092600
8766282	Il6	interleukin 6	gene	DOID:9007417	Pseudomonas Infections	treatment	ISO	RGD:10802	D	RGD:9068941	20200702	RGD			PMID:27175332|REF_RGD_ID:32733623
8766282	Il6	interleukin 6	gene	DOID:9007480	Hyperoxia		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:20663297|REF_RGD_ID:4143252
8766282	Il6	interleukin 6	gene	DOID:9007588	Heart Injuries	ameliorates	ISO	RGD:10802	D	RGD:9068941	20230330	RGD		associated with obesity	PMID:32084395|REF_RGD_ID:242905211
8766282	Il6	interleukin 6	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1352582	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:23593346|PMID:26101800
8766282	Il6	interleukin 6	gene	DOID:9007692	Insulin Resistance		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat)	PMID:19328014|REF_RGD_ID:2307252
8766282	Il6	interleukin 6	gene	DOID:9007692	Insulin Resistance		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		mRNA:increased expression:islet of Langerhans	PMID:21826222|REF_RGD_ID:10402828
8766282	Il6	interleukin 6	gene	DOID:9007730	Burns		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10431976|PMID:18277951
8766282	Il6	interleukin 6	gene	DOID:9007755	Intestinal Reperfusion Injury	treatment	ISO	RGD:2901	D	RGD:9068941	20230824	RGD			PMID:11959089|PMID:22079846|REF_RGD_ID:11062110|REF_RGD_ID:401794136
8766282	Il6	interleukin 6	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:2901	D	RGD:9068941	20220929	RGD			PMID:27087891|PMID:31583047|REF_RGD_ID:11062149|REF_RGD_ID:155230831
8766282	Il6	interleukin 6	gene	DOID:9007925	Sudden Cardiac Death	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:23906927|REF_RGD_ID:12792237
8766282	Il6	interleukin 6	gene	DOID:9008114	Helicobacter Infections	disease_progression	ISO	RGD:10802	D	RGD:9068941	20200828	RGD		mRNA:altered expression:gastric antrum (mouse)	PMID:29085807|REF_RGD_ID:38549349
8766282	Il6	interleukin 6	gene	DOID:9008261	Chemically-Induced Disorders		ISO	RGD:1352582	D	RGD:9068941	20230907	CTD		CTD Direct Evidence: marker/mechanism	PMID:36108500
8766282	Il6	interleukin 6	gene	DOID:9008414	Pulmonary Contusion		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:bronchoalveolar lavage fluid (rat)	PMID:16044083|REF_RGD_ID:11060268
8766282	Il6	interleukin 6	gene	DOID:9008443	Colorectal Neoplasms	treatment	ISO	RGD:2901	D	RGD:9068941	20250327	RGD			PMID:31666482|REF_RGD_ID:598092578
8766282	Il6	interleukin 6	gene	DOID:9008523	Subretinal Fibrosis		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:24790857|REF_RGD_ID:10402815
8766282	Il6	interleukin 6	gene	DOID:9008604	Radiation Pneumonitis	treatment	ISO	RGD:2901	D	RGD:9068941	20250306	RGD			PMID:34036875|REF_RGD_ID:597830143
8766282	Il6	interleukin 6	gene	DOID:9008614	Cardiovascular Pregnancy Complications		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10716473
8766282	Il6	interleukin 6	gene	DOID:9008652	Postoperative Atrial Fibrillation	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:18946567|REF_RGD_ID:9495910
8766282	Il6	interleukin 6	gene	DOID:9008691	Liver Injury		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (rat)	PMID:16549690|REF_RGD_ID:11060263
8766282	Il6	interleukin 6	gene	DOID:9008691	Liver Injury	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Myocardial Reperfusion Injury	PMID:27109160|REF_RGD_ID:11062142
8766282	Il6	interleukin 6	gene	DOID:9008691	Liver Injury	treatment	ISO	RGD:2901	D	RGD:9068941	20250403	RGD			PMID:28358702|REF_RGD_ID:598099567
8766282	Il6	interleukin 6	gene	DOID:9008763	Femoral Fractures		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21442011|REF_RGD_ID:5131471
8766282	Il6	interleukin 6	gene	DOID:9008824	Sarcopenia		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:12919235|REF_RGD_ID:10045859
8766282	Il6	interleukin 6	gene	DOID:9008865	Entamoebiasis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16374615
8766282	Il6	interleukin 6	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037|PMID:17516992|PMID:19435922|PMID:19446661
8766282	Il6	interleukin 6	gene	DOID:9008939	Breast Neoplasms	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with obesity;DNA:polymorphism:promoter:-174G>C(human)	PMID:11426023|REF_RGD_ID:7829718
8766282	Il6	interleukin 6	gene	DOID:9008967	Brain Concussion	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:27113205|REF_RGD_ID:11062140
8766282	Il6	interleukin 6	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18500730
8766282	Il6	interleukin 6	gene	DOID:9065	leishmaniasis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16540374
8766282	Il6	interleukin 6	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18158872
8766282	Il6	interleukin 6	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:23357299|REF_RGD_ID:11046264
8766282	Il6	interleukin 6	gene	DOID:9119	acute myeloid leukemia	treatment	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:8892684|REF_RGD_ID:11062010
8766282	Il6	interleukin 6	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17404324|PMID:22461696|PMID:7554475
8766282	Il6	interleukin 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-174G>C (human)	PMID:28349833|REF_RGD_ID:14975287
8766282	Il6	interleukin 6	gene	DOID:9351	diabetes mellitus		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:dendritic cell (mouse)	PMID:19120268|REF_RGD_ID:2307278
8766282	Il6	interleukin 6	gene	DOID:9351	diabetes mellitus		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Dementia; protein:increased expression:brain (human)	PMID:19139294|REF_RGD_ID:2307273
8766282	Il6	interleukin 6	gene	DOID:9351	diabetes mellitus		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:extracellular space (human)	PMID:19442860|REF_RGD_ID:2307180
8766282	Il6	interleukin 6	gene	DOID:9351	diabetes mellitus	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-174G>C (human)	PMID:18689695|REF_RGD_ID:2307293
8766282	Il6	interleukin 6	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1352582	D	RGD:7240710	20260729	OMIM			
8766282	Il6	interleukin 6	gene	DOID:9402	epididymitis		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:29311626|REF_RGD_ID:13792835
8766282	Il6	interleukin 6	gene	DOID:9408	acute myocardial infarction	ameliorates	ISO	RGD:2901	D	RGD:9068941	20230420	RGD			PMID:32068187|REF_RGD_ID:267358468
8766282	Il6	interleukin 6	gene	DOID:9415	allergic asthma	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20251004	RGD		DNA:SNP,haplotype: :rs2069832	PMID:25994869|REF_RGD_ID:628360924
8766282	Il6	interleukin 6	gene	DOID:9452	steatotic liver disease		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus; protein:increased expression:extracellular space (mouse)	PMID:19205029|REF_RGD_ID:2307258
8766282	Il6	interleukin 6	gene	DOID:9452	steatotic liver disease		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:liver, extracellular space (rat)	PMID:19076162|REF_RGD_ID:2307264
8766282	Il6	interleukin 6	gene	DOID:9538	multiple myeloma		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12855565|PMID:19330649|PMID:8520508
8766282	Il6	interleukin 6	gene	DOID:9719	neovascular inflammatory vitreoretinopathy		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous:	PMID:1800167|REF_RGD_ID:7829748
8766282	Il6	interleukin 6	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1352582	D	RGD:7240710	20260729	OMIM			
8766282	Il6	interleukin 6	gene	DOID:9970	obesity		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20141834|PMID:24042701
8766282	Il6	interleukin 6	gene	DOID:9970	obesity		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism>promoter:174G>C	PMID:16493118|REF_RGD_ID:1601582
8766282	Il6	interleukin 6	gene	DOID:9970	obesity		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)	PMID:19228869|REF_RGD_ID:2307257
8766282	Il6	interleukin 6	gene	DOID:9970	obesity		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		mRNA:increased expression:islet of Langerhans	PMID:21826222|REF_RGD_ID:10402828
8766282	Il6	interleukin 6	gene	DOID:9970	obesity	sexual_dimorphism	ISO	RGD:2901	D	RGD:9068941	20260404	RGD		protein:increased expression:lung	PMID:35202642|REF_RGD_ID:632527159
8766282	Il6	interleukin 6	gene	DOID:9976	heroin dependence	treatment	ISO	RGD:2901	D	RGD:9068941	20250417	RGD			PMID:37112606|REF_RGD_ID:598130076
8766291	Lrch1	leucine rich repeats and calponin homology domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8766291	Lrch1	leucine rich repeats and calponin homology domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8766291	Lrch1	leucine rich repeats and calponin homology domain containing 1	gene	DOID:0051061	stroke		ISO	RGD:1313845	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29531354
8766291	Lrch1	leucine rich repeats and calponin homology domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8766291	Lrch1	leucine rich repeats and calponin homology domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8766291	Lrch1	leucine rich repeats and calponin homology domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1313845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8766291	Lrch1	leucine rich repeats and calponin homology domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1313845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8766291	Lrch1	leucine rich repeats and calponin homology domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1313845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8766291	Lrch1	leucine rich repeats and calponin homology domain containing 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1558043	D	RGD:9068941	20220825	MouseDO		OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810	
8766291	Lrch1	leucine rich repeats and calponin homology domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1313845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8766291	Lrch1	leucine rich repeats and calponin homology domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8766291	Lrch1	leucine rich repeats and calponin homology domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8766291	Lrch1	leucine rich repeats and calponin homology domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313845	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8766291	Lrch1	leucine rich repeats and calponin homology domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766291	Lrch1	leucine rich repeats and calponin homology domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8766291	Lrch1	leucine rich repeats and calponin homology domain containing 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8766291	Lrch1	leucine rich repeats and calponin homology domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8766291	Lrch1	leucine rich repeats and calponin homology domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8766291	Lrch1	leucine rich repeats and calponin homology domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8766323	Slit3	slit guidance ligand 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8766323	Slit3	slit guidance ligand 3	gene	DOID:0050777	Joubert syndrome		ISO	RGD:733245	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	
8766323	Slit3	slit guidance ligand 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8766323	Slit3	slit guidance ligand 3	gene	DOID:0060058	lymphoma		ISO	RGD:733245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8766323	Slit3	slit guidance ligand 3	gene	DOID:0060224	atrial fibrillation		ISO	RGD:733245	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
8766323	Slit3	slit guidance ligand 3	gene	DOID:1115	sarcoma		ISO	RGD:733245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8766323	Slit3	slit guidance ligand 3	gene	DOID:1324	lung cancer		ISO	RGD:733245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8766323	Slit3	slit guidance ligand 3	gene	DOID:1909	melanoma		ISO	RGD:733245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8766323	Slit3	slit guidance ligand 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8766323	Slit3	slit guidance ligand 3	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:69311	D	RGD:9068941	20230406	RGD		mRNA:increased expression:lung	PMID:19944214|REF_RGD_ID:243048459
8766323	Slit3	slit guidance ligand 3	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:735860	D	RGD:9068941	20220825	MouseDO		OMIM:142340 | OMIM:222400 | OMIM:610187	
8766323	Slit3	slit guidance ligand 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8766323	Slit3	slit guidance ligand 3	gene	DOID:4362	cervical cancer		ISO	RGD:733245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8766323	Slit3	slit guidance ligand 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8766323	Slit3	slit guidance ligand 3	gene	DOID:5041	esophageal cancer		ISO	RGD:733245	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8766323	Slit3	slit guidance ligand 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8766323	Slit3	slit guidance ligand 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766323	Slit3	slit guidance ligand 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8766323	Slit3	slit guidance ligand 3	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:735860	D	RGD:9068941	20200609	RGD			PMID:16262652|REF_RGD_ID:2316136
8766323	Slit3	slit guidance ligand 3	gene	DOID:9000998	Brain Injuries		ISO	RGD:69311	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:16262652|REF_RGD_ID:2316136
8766323	Slit3	slit guidance ligand 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8766323	Slit3	slit guidance ligand 3	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:733245	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17436238
8766378	St13	ST13 Hsp70 interacting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8766378	St13	ST13 Hsp70 interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8766378	St13	ST13 Hsp70 interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:733794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8766378	St13	ST13 Hsp70 interacting protein	gene	DOID:1909	melanoma		ISO	RGD:733794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8766378	St13	ST13 Hsp70 interacting protein	gene	DOID:3070	high grade glioma		ISO	RGD:733794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8766378	St13	ST13 Hsp70 interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:733794	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8766378	St13	ST13 Hsp70 interacting protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8766378	St13	ST13 Hsp70 interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766378	St13	ST13 Hsp70 interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8766378	St13	ST13 Hsp70 interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8766398	Tex55	testis expressed 55	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8766424	Znf518a	zinc finger protein 518A	gene	DOID:1115	sarcoma		ISO	RGD:1348764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8766424	Znf518a	zinc finger protein 518A	gene	DOID:4362	cervical cancer		ISO	RGD:1348764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8766424	Znf518a	zinc finger protein 518A	gene	DOID:5041	esophageal cancer		ISO	RGD:1348764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8766424	Znf518a	zinc finger protein 518A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8766424	Znf518a	zinc finger protein 518A	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1348764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8766424	Znf518a	zinc finger protein 518A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8766447	Mmd	monocyte to macrophage differentiation associated	gene	DOID:10534	stomach cancer		ISO	RGD:1346726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8766447	Mmd	monocyte to macrophage differentiation associated	gene	DOID:1115	sarcoma		ISO	RGD:1346726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8766447	Mmd	monocyte to macrophage differentiation associated	gene	DOID:1324	lung cancer		ISO	RGD:1346726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8766447	Mmd	monocyte to macrophage differentiation associated	gene	DOID:5041	esophageal cancer		ISO	RGD:1346726	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8766447	Mmd	monocyte to macrophage differentiation associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8766447	Mmd	monocyte to macrophage differentiation associated	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1346726	D	RGD:9068941	20221027	RGD		associated with Pregnancy Complications;mRNA:increased expression:blood (human)	PMID:31684818|REF_RGD_ID:155630630
8766447	Mmd	monocyte to macrophage differentiation associated	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8766488	Sim2	SIM bHLH transcription factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8766488	Sim2	SIM bHLH transcription factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8766488	Sim2	SIM bHLH transcription factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1317540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8766488	Sim2	SIM bHLH transcription factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317540	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8766488	Sim2	SIM bHLH transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766488	Sim2	SIM bHLH transcription factor 2	gene	DOID:674	cleft palate		ISO	RGD:1317540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12203729
8766488	Sim2	SIM bHLH transcription factor 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: developmental delay	
8766488	Sim2	SIM bHLH transcription factor 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1317540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12203729
8766488	Sim2	SIM bHLH transcription factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8766503	Fbxo47	F-box protein 47	gene	DOID:1909	melanoma		ISO	RGD:1606618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8766503	Fbxo47	F-box protein 47	gene	DOID:3070	high grade glioma		ISO	RGD:1606618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8766503	Fbxo47	F-box protein 47	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8766535	Pcmtd2	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8766535	Pcmtd2	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8766535	Pcmtd2	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766535	Pcmtd2	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8766547	Sec13	SEC13 homolog, nuclear pore and COPII component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8766547	Sec13	SEC13 homolog, nuclear pore and COPII component	gene	DOID:10534	stomach cancer		ISO	RGD:1344614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8766547	Sec13	SEC13 homolog, nuclear pore and COPII component	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1344614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8766547	Sec13	SEC13 homolog, nuclear pore and COPII component	gene	DOID:4362	cervical cancer		ISO	RGD:1344614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8766547	Sec13	SEC13 homolog, nuclear pore and COPII component	gene	DOID:5041	esophageal cancer		ISO	RGD:1344614	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8766547	Sec13	SEC13 homolog, nuclear pore and COPII component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766547	Sec13	SEC13 homolog, nuclear pore and COPII component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8766547	Sec13	SEC13 homolog, nuclear pore and COPII component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8766547	Sec13	SEC13 homolog, nuclear pore and COPII component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8766579	Mta3	metastasis associated 1 family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8766579	Mta3	metastasis associated 1 family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1315624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8766579	Mta3	metastasis associated 1 family member 3	gene	DOID:3275	thymoma		ISO	RGD:1315624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8766579	Mta3	metastasis associated 1 family member 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8766579	Mta3	metastasis associated 1 family member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8766579	Mta3	metastasis associated 1 family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766579	Mta3	metastasis associated 1 family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8766579	Mta3	metastasis associated 1 family member 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1315624	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
8766579	Mta3	metastasis associated 1 family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8766579	Mta3	metastasis associated 1 family member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8766605	Kif1c	kinesin family member 1C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8766605	Kif1c	kinesin family member 1C	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:731799	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868|PMID:32581362
8766605	Kif1c	kinesin family member 1C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8766605	Kif1c	kinesin family member 1C	gene	DOID:0050941	spastic ataxia 2		ISO	RGD:731799	D	RGD:7240710	20180130	OMIM			
8766605	Kif1c	kinesin family member 1C	gene	DOID:0050941	spastic ataxia 2		ISO	RGD:731799	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive | ClinVar Annotator: match by term: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic ataxia 2 | ClinVar Annotator: match by term: Spastic ataxia 2, autosomal recessive	PMID:16199547|PMID:17576681|PMID:24319291|PMID:24482476|PMID:25741868|PMID:28454995|PMID:28492532|PMID:28832565|PMID:29482223|PMID:30067756|PMID:31616253|PMID:32501971|PMID:33624863|PMID:34946966|PMID:35775617|PMID:38587696|PMID:9536098
8766605	Kif1c	kinesin family member 1C	gene	DOID:0050952	spastic ataxia		ISO	RGD:731799	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	
8766605	Kif1c	kinesin family member 1C	gene	DOID:10534	stomach cancer		ISO	RGD:731799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8766605	Kif1c	kinesin family member 1C	gene	DOID:1115	sarcoma		ISO	RGD:731799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8766605	Kif1c	kinesin family member 1C	gene	DOID:1324	lung cancer		ISO	RGD:731799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8766605	Kif1c	kinesin family member 1C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8766605	Kif1c	kinesin family member 1C	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:731799	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:28832565|PMID:33624863|PMID:9536098
8766605	Kif1c	kinesin family member 1C	gene	DOID:3275	thymoma		ISO	RGD:731799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8766605	Kif1c	kinesin family member 1C	gene	DOID:4362	cervical cancer		ISO	RGD:731799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8766605	Kif1c	kinesin family member 1C	gene	DOID:5041	esophageal cancer		ISO	RGD:731799	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8766605	Kif1c	kinesin family member 1C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731799	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532|PMID:28832565
8766605	Kif1c	kinesin family member 1C	gene	DOID:6039	uveal melanoma		ISO	RGD:731799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8766605	Kif1c	kinesin family member 1C	gene	DOID:630	genetic disease		ISO	RGD:731799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8766605	Kif1c	kinesin family member 1C	gene	DOID:9004866	Ataxia		ISO	RGD:731799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
8766605	Kif1c	kinesin family member 1C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8766605	Kif1c	kinesin family member 1C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8766605	Kif1c	kinesin family member 1C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731799	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532|PMID:28832565
8766605	Kif1c	kinesin family member 1C	gene	DOID:9256	colorectal cancer		ISO	RGD:731799	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532|PMID:28832565
8766639	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8766639	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8766639	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8766639	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:11664	nephrosclerosis		ISO	RGD:1319649	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28318631
8766639	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8766639	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8766639	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8766639	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8766639	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:5199	ureteral obstruction		ISO	RGD:1319649	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28318631
8766639	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766639	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8766639	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8766639	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8766639	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8766639	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8766639	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1319649	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
8766688	Ccne2	cyclin E2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8766688	Ccne2	cyclin E2	gene	DOID:0060058	lymphoma		ISO	RGD:1317175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8766688	Ccne2	cyclin E2	gene	DOID:0080909	castration-resistant prostate carcinoma	treatment	ISO	RGD:1317175	D	RGD:9068941	20200609	RGD			PMID:27431942|REF_RGD_ID:13504681
8766688	Ccne2	cyclin E2	gene	DOID:10534	stomach cancer		ISO	RGD:1317175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8766688	Ccne2	cyclin E2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8766688	Ccne2	cyclin E2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1317175	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8766688	Ccne2	cyclin E2	gene	DOID:1324	lung cancer		ISO	RGD:1317175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8766688	Ccne2	cyclin E2	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1317175	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
8766688	Ccne2	cyclin E2	gene	DOID:1909	melanoma		ISO	RGD:1317175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8766688	Ccne2	cyclin E2	gene	DOID:2394	ovarian cancer		ISO	RGD:1317175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8766688	Ccne2	cyclin E2	gene	DOID:2526	prostate adenocarcinoma		ISO	RGD:1317176	D	RGD:9068941	20200609	RGD			PMID:25315431|REF_RGD_ID:13504706
8766688	Ccne2	cyclin E2	gene	DOID:289	endometriosis		ISO	RGD:1317175	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
8766688	Ccne2	cyclin E2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317175	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29464035
8766703	Arih1	ariadne RBR E3 ubiquitin protein ligase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8766703	Arih1	ariadne RBR E3 ubiquitin protein ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8766703	Arih1	ariadne RBR E3 ubiquitin protein ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8766703	Arih1	ariadne RBR E3 ubiquitin protein ligase 1	gene	DOID:1324	lung cancer		ISO	RGD:1317726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8766703	Arih1	ariadne RBR E3 ubiquitin protein ligase 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1317726	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:25741868|PMID:28492532
8766703	Arih1	ariadne RBR E3 ubiquitin protein ligase 1	gene	DOID:3627	aortic aneurysm		ISO	RGD:1317726	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: aortic aneurysm	PMID:28492532|PMID:29689197
8766703	Arih1	ariadne RBR E3 ubiquitin protein ligase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317726	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8766703	Arih1	ariadne RBR E3 ubiquitin protein ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766703	Arih1	ariadne RBR E3 ubiquitin protein ligase 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1317726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8766703	Arih1	ariadne RBR E3 ubiquitin protein ligase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8766703	Arih1	ariadne RBR E3 ubiquitin protein ligase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:0080234	Clark-Baraitser syndrome		ISO	RGD:1315318	D	RGD:7240710	20190315	OMIM			
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:0080234	Clark-Baraitser syndrome		ISO	RGD:1315318	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CLARK-BARAITSER SYNDROME | ClinVar Annotator: match by term: Clark-Baraitser syndrome | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 49 | ClinVar Annotator: match by term: TRIP12-related condition	PMID:25741868|PMID:27848077|PMID:28251352|PMID:28492532|PMID:29758562|PMID:36918699
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:10283	prostate cancer		ISO	RGD:1315318	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:10283	prostate cancer		ISO	RGD:1315318	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:10534	stomach cancer		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:1059	intellectual disability		ISO	RGD:1315318	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:36747006
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:11044	gastroschisis		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroschisis	PMID:25741868
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:1115	sarcoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:11193	syndactyly		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-syndromic syndactyly	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:11714	gestational diabetes		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:12698	gynecomastia		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gynecomastia	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:12849	autistic disorder		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:1324	lung cancer		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:1909	melanoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:3275	thymoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:4362	cervical cancer		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1315318	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:630	genetic disease		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9001581	Constipation		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9002189	High Myopia		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe Myopia	PMID:20676075
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9003816	Macrocephaly		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315318	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:27848077|PMID:28251352
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Speech delay	PMID:25741868
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9008582	Developmental Disease		ISO	RGD:1315318	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8766720	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9970	obesity		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
8766793	Tmem54	transmembrane protein 54	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8766793	Tmem54	transmembrane protein 54	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8766793	Tmem54	transmembrane protein 54	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8766793	Tmem54	transmembrane protein 54	gene	DOID:4362	cervical cancer		ISO	RGD:1606187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8766793	Tmem54	transmembrane protein 54	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8766793	Tmem54	transmembrane protein 54	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766793	Tmem54	transmembrane protein 54	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8766793	Tmem54	transmembrane protein 54	gene	DOID:9256	colorectal cancer		ISO	RGD:1606187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8766803	Nox4	NADPH oxidase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8766803	Nox4	NADPH oxidase 4	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	susceptibility	ISO	RGD:620600	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:20606728|REF_RGD_ID:21076282
8766803	Nox4	NADPH oxidase 4	gene	DOID:1074	kidney failure		ISO	RGD:731542	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23325087
8766803	Nox4	NADPH oxidase 4	gene	DOID:10763	hypertension		ISO	RGD:620600	D	RGD:9068941	20200609	RGD			PMID:26644237|REF_RGD_ID:11085830
8766803	Nox4	NADPH oxidase 4	gene	DOID:10763	hypertension		ISO	RGD:620600	D	RGD:9068941	20200609	RGD		protein:increased expression:aorta, vascular associated smooth muscle cell	PMID:18418428|REF_RGD_ID:2324669
8766803	Nox4	NADPH oxidase 4	gene	DOID:10763	hypertension		ISO	RGD:731542	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:27659729|PMID:27847271|PMID:32147540
8766803	Nox4	NADPH oxidase 4	gene	DOID:1115	sarcoma		ISO	RGD:731542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8766803	Nox4	NADPH oxidase 4	gene	DOID:1909	melanoma		ISO	RGD:731542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8766803	Nox4	NADPH oxidase 4	gene	DOID:2316	brain ischemia		ISO	RGD:731543	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:cerebral cortex (human)	PMID:15802177|REF_RGD_ID:1580980
8766803	Nox4	NADPH oxidase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8766803	Nox4	NADPH oxidase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8766803	Nox4	NADPH oxidase 4	gene	DOID:4362	cervical cancer		ISO	RGD:731542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8766803	Nox4	NADPH oxidase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8766803	Nox4	NADPH oxidase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766803	Nox4	NADPH oxidase 4	gene	DOID:6000	congestive heart failure		ISO	RGD:731542	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20304815
8766803	Nox4	NADPH oxidase 4	gene	DOID:6432	pulmonary hypertension		ISO	RGD:731543	D	RGD:9068941	20200609	RGD		associated with Anoxia;mRNA, protein:increased expression:lung	PMID:18952568|REF_RGD_ID:4762683
8766803	Nox4	NADPH oxidase 4	gene	DOID:783	end stage renal disease		ISO	RGD:731542	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19420110
8766803	Nox4	NADPH oxidase 4	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:620600	D	RGD:9068941	20230622	RGD		mRNA,protein:increased expression:gastrocnemius muscle	PMID:27998200|REF_RGD_ID:329853757
8766803	Nox4	NADPH oxidase 4	gene	DOID:9000998	Brain Injuries		ISO	RGD:731542	D	RGD:9068941	20231207	CTD		CTD Direct Evidence: therapeutic	PMID:36762617
8766803	Nox4	NADPH oxidase 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731542	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8766803	Nox4	NADPH oxidase 4	gene	DOID:9001665	Aneurysm		ISO	RGD:620600	D	RGD:9068941	20200609	RGD			PMID:19620512|REF_RGD_ID:2324659
8766803	Nox4	NADPH oxidase 4	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:620600	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:16135519|REF_RGD_ID:2324673
8766803	Nox4	NADPH oxidase 4	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:620600	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA:increased expression:kidney cortex	PMID:17511984|REF_RGD_ID:2324670
8766803	Nox4	NADPH oxidase 4	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:731542	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20715105
8766803	Nox4	NADPH oxidase 4	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620600	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebral cortex	PMID:18438942|REF_RGD_ID:2324666
8766803	Nox4	NADPH oxidase 4	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:620600	D	RGD:9068941	20200609	RGD		associated with hypertension	PMID:23850346|REF_RGD_ID:13703040
8766803	Nox4	NADPH oxidase 4	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620600	D	RGD:9068941	20200609	RGD		protein:increased expression:aorta	PMID:19686728|REF_RGD_ID:2324658
8766803	Nox4	NADPH oxidase 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:731542	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8766803	Nox4	NADPH oxidase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8766803	Nox4	NADPH oxidase 4	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:620600	D	RGD:9068941	20240201	RGD			PMID:30298849|REF_RGD_ID:401960083
8766803	Nox4	NADPH oxidase 4	gene	DOID:9970	obesity	treatment	ISO	RGD:620600	D	RGD:9068941	20240201	RGD			PMID:30298849|REF_RGD_ID:401960083
8766837	Rorb	RAR related orphan receptor B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8766837	Rorb	RAR related orphan receptor B	gene	DOID:0060470	salt and pepper syndrome		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GM3 synthase deficiency	PMID:25741868
8766837	Rorb	RAR related orphan receptor B	gene	DOID:0070309	absence epilepsy		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868|PMID:38165337
8766837	Rorb	RAR related orphan receptor B	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	
8766837	Rorb	RAR related orphan receptor B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8766837	Rorb	RAR related orphan receptor B	gene	DOID:11782	astigmatism		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
8766837	Rorb	RAR related orphan receptor B	gene	DOID:12849	autistic disorder		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
8766837	Rorb	RAR related orphan receptor B	gene	DOID:1826	epilepsy		ISO	RGD:1315588	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizures	PMID:25741868|PMID:27352968|PMID:28492532|PMID:32162308|PMID:34374989|PMID:38165337
8766837	Rorb	RAR related orphan receptor B	gene	DOID:1827	generalized epilepsy		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868|PMID:38165337
8766837	Rorb	RAR related orphan receptor B	gene	DOID:1909	melanoma		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8766837	Rorb	RAR related orphan receptor B	gene	DOID:289	endometriosis		ISO	RGD:1315588	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
8766837	Rorb	RAR related orphan receptor B	gene	DOID:4362	cervical cancer		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8766837	Rorb	RAR related orphan receptor B	gene	DOID:630	genetic disease		ISO	RGD:1315588	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25356972|PMID:28492532|PMID:32162308
8766837	Rorb	RAR related orphan receptor B	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
8766837	Rorb	RAR related orphan receptor B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8766837	Rorb	RAR related orphan receptor B	gene	DOID:9009307	Idiopathic Generalized Epilepsy 15		ISO	RGD:1315588	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 15 | ClinVar Annotator: match by term: RORB-related condition	PMID:16199547|PMID:25356972|PMID:25741868|PMID:27352968|PMID:28492532|PMID:32162308|PMID:34374989|PMID:38165337|PMID:39897619
8766837	Rorb	RAR related orphan receptor B	gene	DOID:9009307	Idiopathic Generalized Epilepsy 15	susceptibility	ISO	RGD:1315588	D	RGD:7240710	20190904	OMIM			
8766851	Iho1	interactor of HORMAD1 1	gene	DOID:1115	sarcoma		ISO	RGD:1605539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8766851	Iho1	interactor of HORMAD1 1	gene	DOID:1324	lung cancer		ISO	RGD:1605539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8766851	Iho1	interactor of HORMAD1 1	gene	DOID:1909	melanoma		ISO	RGD:1605539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8766851	Iho1	interactor of HORMAD1 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8766851	Iho1	interactor of HORMAD1 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766865	Cbx1	chromobox 1	gene	DOID:10283	prostate cancer		ISO	RGD:1321782	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate:	PMID:18436254|REF_RGD_ID:9586744
8766865	Cbx1	chromobox 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8766865	Cbx1	chromobox 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8766865	Cbx1	chromobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766865	Cbx1	chromobox 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1321782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
8766865	Cbx1	chromobox 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:37087635
8766865	Cbx1	chromobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8766878	Prpf18	pre-mRNA processing factor 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8766878	Prpf18	pre-mRNA processing factor 18	gene	DOID:10534	stomach cancer		ISO	RGD:731692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8766878	Prpf18	pre-mRNA processing factor 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8766878	Prpf18	pre-mRNA processing factor 18	gene	DOID:1909	melanoma		ISO	RGD:731692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8766878	Prpf18	pre-mRNA processing factor 18	gene	DOID:3275	thymoma		ISO	RGD:731692	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8766878	Prpf18	pre-mRNA processing factor 18	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8766878	Prpf18	pre-mRNA processing factor 18	gene	DOID:5041	esophageal cancer		ISO	RGD:731692	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8766878	Prpf18	pre-mRNA processing factor 18	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8766878	Prpf18	pre-mRNA processing factor 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766878	Prpf18	pre-mRNA processing factor 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8766878	Prpf18	pre-mRNA processing factor 18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8766906	Fsip1	fibrous sheath interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8766906	Fsip1	fibrous sheath interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8766906	Fsip1	fibrous sheath interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8766906	Fsip1	fibrous sheath interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1315740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8766906	Fsip1	fibrous sheath interacting protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8766906	Fsip1	fibrous sheath interacting protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8766906	Fsip1	fibrous sheath interacting protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8766906	Fsip1	fibrous sheath interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315740	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8766906	Fsip1	fibrous sheath interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8766906	Fsip1	fibrous sheath interacting protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8766906	Fsip1	fibrous sheath interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8766970	Srek1	splicing regulatory glutamic acid and lysine rich protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1352789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8766970	Srek1	splicing regulatory glutamic acid and lysine rich protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1352789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8766970	Srek1	splicing regulatory glutamic acid and lysine rich protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8766970	Srek1	splicing regulatory glutamic acid and lysine rich protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8766970	Srek1	splicing regulatory glutamic acid and lysine rich protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8766970	Srek1	splicing regulatory glutamic acid and lysine rich protein 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1352789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8766970	Srek1	splicing regulatory glutamic acid and lysine rich protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8767039	Spaca7	sperm acrosome associated 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8767056	Znf329	zinc finger protein 329	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8767056	Znf329	zinc finger protein 329	gene	DOID:5041	esophageal cancer		ISO	RGD:1348045	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8767056	Znf329	zinc finger protein 329	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767056	Znf329	zinc finger protein 329	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8767068	Pih1d1	PIH1 domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8767068	Pih1d1	PIH1 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8767068	Pih1d1	PIH1 domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8767068	Pih1d1	PIH1 domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8767068	Pih1d1	PIH1 domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1605995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8767068	Pih1d1	PIH1 domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1605995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8767068	Pih1d1	PIH1 domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8767068	Pih1d1	PIH1 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767068	Pih1d1	PIH1 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8767068	Pih1d1	PIH1 domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:10087994|PMID:15307104|PMID:24357517|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8541557|PMID:8652378
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:10087994|PMID:15307104|PMID:24357517|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8541557|PMID:8652378
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:0060058	lymphoma		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:10087994|PMID:15307104|PMID:24357517|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8541557|PMID:8652378
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:0060230	basal ganglia calcification		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: basal ganglia calcification	PMID:25741868
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:0060284	paroxysmal nocturnal hemoglobinuria		ISO	RGD:1607087	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA	
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:0060713	autosomal recessive congenital ichthyosis 4B		ISO	RGD:11100	D	RGD:9068941	20220825	MouseDO		OMIM:242500	
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2		ISO	RGD:1607087	D	RGD:7240710	20180130	OMIM			
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2		ISO	RGD:1607087	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2	PMID:10087994|PMID:15307104|PMID:17576681|PMID:19377476|PMID:22305531|PMID:24357517|PMID:24706016|PMID:24759409|PMID:25326635|PMID:25590979|PMID:25741868|PMID:26467025|PMID:26545172|PMID:27353043|PMID:28133863|PMID:28441409|PMID:28492532|PMID:29310717|PMID:29314583|PMID:29656098|PMID:31164858|PMID:31704190|PMID:31957018|PMID:32220244|PMID:32256299|PMID:32452540|PMID:32694024|PMID:32901917|PMID:33763700|PMID:34355501|PMID:34782754|PMID:8541557|PMID:8652378|PMID:9536098
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:1059	intellectual disability		ISO	RGD:1607087	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:1324	lung cancer		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:1826	epilepsy		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:31704190|PMID:32452540|PMID:32901917
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:1827	generalized epilepsy		ISO	RGD:1607087	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:1909	melanoma		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:10087994|PMID:15307104|PMID:24357517|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8541557|PMID:8652378
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:10087994|PMID:15307104|PMID:24357517|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8541557|PMID:8652378
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:2394	ovarian cancer		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:10087994|PMID:15307104|PMID:24357517|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8541557|PMID:8652378
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:3275	thymoma		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:10087994|PMID:15307104|PMID:24357517|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8541557|PMID:8652378
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:10087994|PMID:15307104|PMID:24357517|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8541557|PMID:8652378
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:5041	esophageal cancer		ISO	RGD:1607087	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:10087994|PMID:15307104|PMID:24357517|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8541557|PMID:8652378
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:6039	uveal melanoma		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:10087994|PMID:15307104|PMID:24357517|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8541557|PMID:8652378
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:10087994|PMID:15307104|PMID:24357517|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8541557|PMID:8652378
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:630	genetic disease		ISO	RGD:1607087	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10087994|PMID:15307104|PMID:24357517|PMID:24706016|PMID:25741868|PMID:26467025|PMID:28492532|PMID:2915993|PMID:29159939|PMID:29314583|PMID:31164858|PMID:32176464|PMID:8541557|PMID:8652378
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:10087994|PMID:15307104|PMID:24357517|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8541557|PMID:8652378
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:10087994|PMID:15307104|PMID:24357517|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8541557|PMID:8652378
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:9001981	Weight Loss		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:25741868
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:10087994|PMID:15307104|PMID:24357517|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8541557|PMID:8652378
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:9004285	Paroxysmal Nocturnal Hemoglobinuria 1		ISO	RGD:1607087	D	RGD:7240710	20220727	OMIM			
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:9004285	Paroxysmal Nocturnal Hemoglobinuria 1		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1	PMID:24706016|PMID:25741868|PMID:28492532|PMID:29656098|PMID:31704190|PMID:32452540|PMID:32901917|PMID:34355501
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1607087	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:19377476|PMID:25741868|PMID:28492532
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:9005463	Occupational Diseases		ISO	RGD:1607087	D	RGD:9068941	20231102	CTD		CTD Direct Evidence: marker/mechanism	PMID:37271276
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:9005616	Micrognathism		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:9008096	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS		ISO	RGD:1607087	D	RGD:7240710	20220706	OMIM			
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:9008096	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS		ISO	RGD:1607087	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS | ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hemochromatosis	PMID:24706016|PMID:25741868|PMID:34875027
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:9008617	Lethargy		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:25741868
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:10087994|PMID:15307104|PMID:24357517|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8541557|PMID:8652378
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:10087994|PMID:15307104|PMID:24357517|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8541557|PMID:8652378
8767103	Piga	phosphatidylinositol glycan anchor biosynthesis class A	gene	DOID:9256	colorectal cancer		ISO	RGD:1607087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:10087994|PMID:15307104|PMID:24357517|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8541557|PMID:8652378
8767119	Msh2	mutS homolog 2	gene	DOID:0050465	Muir-Torre syndrome		ISO	RGD:732745	D	RGD:7240710	20180130	OMIM			
8767119	Msh2	mutS homolog 2	gene	DOID:0050465	Muir-Torre syndrome		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: MUIR-TORRE SYNDROME | ClinVar Annotator: match by term: Muir-Torre syndrome | ClinVar Annotator: match by term: Muir-Torré syndrome	PMID:11606497|PMID:11782355|PMID:12124176|PMID:12376507|PMID:14514376|PMID:14526391|PMID:15365995|PMID:15849733|PMID:15872200|PMID:16216036|PMID:16995940|PMID:17101317|PMID:17894833|PMID:18383312|PMID:18561205|PMID:18781192|PMID:20223042|PMID:20459533|PMID:20937110|PMID:21671081|PMID:21837758|PMID:22290698|PMID:22480969|PMID:22949387|PMID:23047549|PMID:23229822|PMID:23729658|PMID:24033266|PMID:24362816|PMID:25110875|PMID:25186627|PMID:25194673|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26681312|PMID:26692440|PMID:26845104|PMID:26866578|PMID:26951660|PMID:26976419|PMID:2712738|PMID:27363726|PMID:27601186|PMID:27618451|PMID:27974047|PMID:28202063|PMID:28449805|PMID:28492532|PMID:28767289|PMID:28874130|PMID:29212164|PMID:29345684|PMID:29442399|PMID:29641532|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30122538|PMID:30238922|PMID:30262796|PMID:30322717|PMID:30833958|PMID:31054147|PMID:31068090|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31428572|PMID:31569399|PMID:31997046|PMID:32658311|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33357406|PMID:33383211|PMID:33471991|PMID:33606809|PMID:33848333|PMID:34213665|PMID:34761457|PMID:35224146|PMID:35358259|PMID:35487642|PMID:35676339|PMID:36230473|PMID:36243179|PMID:36457512|PMID:36593122|PMID:36627197|PMID:36672847|PMID:7616541|PMID:8880570|PMID:9217825|PMID:9718327|PMID:9774676
8767119	Msh2	mutS homolog 2	gene	DOID:0050861	colorectal adenocarcinoma	disease_progression	ISO	RGD:732746	D	RGD:9068941	20210430	RGD			PMID:11604476|REF_RGD_ID:126790556
8767119	Msh2	mutS homolog 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:15849733|PMID:16199547|PMID:16395668|PMID:19669161|PMID:21520333|PMID:21642682|PMID:24362816|PMID:25741868|PMID:26467025|PMID:28492532|PMID:36113988
8767119	Msh2	mutS homolog 2	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ductal carcinoma in situ	PMID:25741868|PMID:26467025|PMID:28466842|PMID:28492532|PMID:28765196
8767119	Msh2	mutS homolog 2	gene	DOID:0060180	colitis		ISO	RGD:620786	D	RGD:9068941	20200609	RGD			PMID:23883737|REF_RGD_ID:10412318
8767119	Msh2	mutS homolog 2	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute promyelocytic leukemia	PMID:25741868|PMID:25938944|PMID:27363726|PMID:28492532|PMID:29625052|PMID:32885271|PMID:33357406|PMID:33471991
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:7240710	20180130	OMIM			
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:22581703|PMID:22585170|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:2695166|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32941469|PMID:32957588|PMID:32986223|PMID:32994724|PMID:33357406|PMID:33471991|PMID:33630411|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34347074|PMID:34371384|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31857677|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31857677|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33848333|PMID:33850299
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:33939675|PMID:34117267|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:22581703|PMID:22585170|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659587|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32809219|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33630411|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34117267|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:22581703|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659587|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31444830|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:31882575|PMID:31948886|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11839723|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22102614|PMID:22120844
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32832836|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31444830|PMID:31491536|PMID:31494577|PMID:31512090
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32832836|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32832836|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11839723|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15959913|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17661183|PMID:17665423|PMID:17720936|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21879275
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22102614|PMID:22120844|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29506128|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29961768|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35449176|PMID:35676339|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36672847|PMID:36988593|PMID:6096739|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15872200|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:27468915|PMID:27487738|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28929227|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32923906|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:34330892|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34680242|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35370679|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:36011265|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36169650|PMID:36243179|PMID:36359527|PMID:36421850|PMID:36451132|PMID:3658675|PMID:36672847|PMID:36845387|PMID:36988593|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15872200|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15872200|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:18951465|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25741905|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:27287813|PMID:27300758|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32923906|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35370679|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36672847|PMID:36845387|PMID:36988593|PMID:37262986|PMID:37314251|PMID:580563|PMID:6096739|PMID:625353|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15872200|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18809606|PMID:18822302|PMID:18841495
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32923906|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35370679|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36672847|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:580563|PMID:6096739|PMID:625353|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: LYNCH SYNDROME 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:10080150|PMID:10190329|PMID:10375096|PMID:10404063|PMID:10448273|PMID:10480359|PMID:10612827|PMID:10777691|PMID:10978353|PMID:10995807|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11291077|PMID:11379475|PMID:11524701|PMID:11579115|PMID:11606497|PMID:11720433|PMID:11772966|PMID:11782355|PMID:12115503|PMID:12124176|PMID:12200596|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12624141|PMID:12655562|PMID:12907901|PMID:14499697|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14635101|PMID:14729822|PMID:14970868|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15309712|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15475941|PMID:15527911|PMID:15680406|PMID:15713769|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15951966|PMID:15996210|PMID:16034045|PMID:16086322|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16395668|PMID:16426447|PMID:16451135|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16884359|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17101317|PMID:17192056|PMID:17199584|PMID:17312306|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17576681|PMID:17601929|PMID:17653898|PMID:17720936|PMID:17894833|PMID:17939062|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18270343|PMID:18383312|PMID:18389388|PMID:18559331|PMID:18561205|PMID:18625694|PMID:18726168|PMID:18759827|PMID:18781192|PMID:18822302|PMID:18951462|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19723918|PMID:19728162|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20176959|PMID:20223042|PMID:20233461|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21387278|PMID:21520333|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21837758|PMID:21879275|PMID:21926548|PMID:21946537|PMID:22039344|PMID:22102614|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22290698|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22739024|PMID:22854115|PMID:22883484|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23354017|PMID:23354634|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24033266|PMID:24090359|PMID:24240112|PMID:24278394|PMID:24310308|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24767862|PMID:24903654|PMID:24933000|PMID:24933100|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25648859|PMID:25673086|PMID:25741868|PMID:25872134|PMID:25938944|PMID:25980754|PMID:26053027|PMID:26206375|PMID:26248088|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26446363|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26648449|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26951660|PMID:26976419|PMID:27064304|PMID:2712738|PMID:27153395|PMID:27329137|PMID:27363726|PMID:27443514|PMID:27487738|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27720647|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28422960|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29212164
8767119	Msh2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: LYNCH SYNDROME 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:29333623|PMID:29345684|PMID:29348823|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29568967|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29690800|PMID:29731845|PMID:29752822|PMID:29758216|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30077346|PMID:30093976|PMID:30122538|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30322717|PMID:30504929|PMID:30521064|PMID:30584090|PMID:30702970|PMID:30710526|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30877237|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31428572|PMID:31447099|PMID:31569399|PMID:31588121|PMID:31615790|PMID:31660093|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31997046|PMID:32068069|PMID:32587781|PMID:32658311|PMID:32720330|PMID:32794040|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:33015532|PMID:33110269|PMID:33191490|PMID:33259954|PMID:33309985|PMID:33357406|PMID:333574060|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33606809|PMID:33615670|PMID:33654310|PMID:33848333|PMID:33858029|PMID:33866195|PMID:34178123|PMID:34203177|PMID:34213665|PMID:34250417|PMID:34326862|PMID:34330892|PMID:34359559|PMID:34570441|PMID:34761457|PMID:34906448|PMID:34964002|PMID:35224146|PMID:35358259|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35487642|PMID:35666082|PMID:35676339|PMID:35884469|PMID:35980532|PMID:36113988|PMID:36230473|PMID:36243179|PMID:36359527|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37370996|PMID:37894291|PMID:37914149|PMID:37937776|PMID:38355628|PMID:38509102|PMID:38731914|PMID:39004446|PMID:39096151|PMID:39301527|PMID:7616541|PMID:7726159|PMID:7874129|PMID:8062247|PMID:8261515|PMID:8509102|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8808596|PMID:8872463|PMID:8880570|PMID:9002677|PMID:9048925|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9536098|PMID:9559627|PMID:9718327|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:0070274	hereditary nonpolyposis colorectal cancer type 2		ISO	RGD:732745	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Lynch syndrome II	PMID:25741868|PMID:28492532|PMID:33357406
8767119	Msh2	mutS homolog 2	gene	DOID:0112182	mismatch repair cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MMR DEFICIENCY	PMID:16929514|PMID:17011982|PMID:18383312|PMID:22290698|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27363726|PMID:28492532|PMID:28767289|PMID:29731845|PMID:30238922|PMID:30262796|PMID:31237724|PMID:31391288|PMID:32832836|PMID:33357406|PMID:33471991|PMID:33606809|PMID:33848333|PMID:34761457|PMID:36243179|PMID:36672847
8767119	Msh2	mutS homolog 2	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:732745	D	RGD:9068941	20200609	RGD			PMID:16217293|REF_RGD_ID:2293513
8767119	Msh2	mutS homolog 2	gene	DOID:10534	stomach cancer		ISO	RGD:732745	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:12624141|PMID:16451135|PMID:17453009|PMID:20587412|PMID:21681552|PMID:24240112|PMID:24344984|PMID:25741868|PMID:26446363|PMID:26467025|PMID:26689913|PMID:26824983|PMID:27363726|PMID:28050010|PMID:28127413|PMID:28492532|PMID:28514183|PMID:28724667|PMID:28874130|PMID:29752822|PMID:31207149|PMID:32068069|PMID:33015532|PMID:36522531|PMID:36988593
8767119	Msh2	mutS homolog 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
8767119	Msh2	mutS homolog 2	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:732745	D	RGD:9068941	20200609	RGD		protein:decreased expression:urinary bladder	PMID:18254781|REF_RGD_ID:2293503
8767119	Msh2	mutS homolog 2	gene	DOID:1115	sarcoma		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8767119	Msh2	mutS homolog 2	gene	DOID:11830	myopia		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:26467025|PMID:27363726|PMID:28492532|PMID:31391288|PMID:33357406|PMID:34326862
8767119	Msh2	mutS homolog 2	gene	DOID:12858	Huntington's disease	onset	ISO	RGD:732746	D	RGD:9068941	20200609	RGD			PMID:12554681|REF_RGD_ID:10412317
8767119	Msh2	mutS homolog 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25186627|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27363726|PMID:28492532|PMID:28767289|PMID:30262796|PMID:33471991|PMID:33848333|PMID:36243179
8767119	Msh2	mutS homolog 2	gene	DOID:1324	lung cancer		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8767119	Msh2	mutS homolog 2	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:732745	D	RGD:9068941	20210507	RGD		DNA:SNP: :rs2303425 (human)	PMID:25252909|REF_RGD_ID:126848798
8767119	Msh2	mutS homolog 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:17531815|PMID:23391514|PMID:25741868|PMID:28492532|PMID:32980694|PMID:33357406|PMID:35101336
8767119	Msh2	mutS homolog 2	gene	DOID:1520	colon carcinoma		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10404063|PMID:10413423|PMID:10446963|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10612827|PMID:10612836|PMID:10777691|PMID:10793088|PMID:10978353|PMID:10995807|PMID:11151427|PMID:11291077|PMID:11691782|PMID:11772966|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920650|PMID:11975096|PMID:12112654|PMID:12115348|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14574162|PMID:14574163|PMID:14970868|PMID:15075785|PMID:15222003|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15516845|PMID:15520224|PMID:15527911|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16034045|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16288214|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16451135|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17192056|PMID:17312306|PMID:17350822|PMID:17414604|PMID:17440950|PMID:17505997|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18270343|PMID:18325052|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18772310|PMID:18822302|PMID:18951462|PMID:18951465|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19669161|PMID:19685281|PMID:19698169|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20850175|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21387278|PMID:21419771|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21788563|PMID:22039344|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22371642|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23454724|PMID:23526924|PMID:23573243|PMID:23612316|PMID:23741719|PMID:23760103|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24240112|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24396821|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24933000|PMID:24933100|PMID:25025451|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25430799|PMID:25569433|PMID:25637381|PMID:25648859|PMID:25741868|PMID:25980754|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26096739|PMID:26177554|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26580448|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26824983|PMID:26898890|PMID:26900293|PMID:26951660|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27273229|PMID:27328445|PMID:27601186|PMID:27696107|PMID:27720647|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28422960|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28779002|PMID:28828701|PMID:28874130|PMID:28944238|PMID:29164703|PMID:29212164|PMID:29238914|PMID:29345684|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29887214|PMID:29967336|PMID:30019097|PMID:30217226|PMID:30238922|PMID:30267214|PMID:30376427|PMID:30521064|PMID:30877237|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31265121|PMID:31569399|PMID:31615790|PMID:31857677|PMID:32019277|PMID:32068069|PMID:32075053
8767119	Msh2	mutS homolog 2	gene	DOID:1520	colon carcinoma		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:32090079|PMID:32283892|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32660107|PMID:32885271|PMID:32957588|PMID:33015532|PMID:33357406|PMID:33471991|PMID:33746161|PMID:34347074|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7726159|PMID:7874129|PMID:8062247|PMID:8261515|PMID:8574961|PMID:8592341|PMID:8872463|PMID:8895729|PMID:9002677|PMID:9125109|PMID:9288790|PMID:9311737|PMID:9536098|PMID:9621522|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:1520	colon carcinoma		ISO	RGD:732745	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:29345684|PMID:29506128|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29887214|PMID:29961768|PMID:29967336|PMID:30019097|PMID:30093976|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30267214|PMID:30376427|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30702970|PMID:30787465|PMID:30875412|PMID:30877237|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31265121|PMID:31332305|PMID:31391288|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31569399|PMID:31615790|PMID:31857677|PMID:31948886|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32283892|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32658311|PMID:32660107|PMID:32885271|PMID:32957588|PMID:33015532|PMID:33357406|PMID:333574060|PMID:33414168|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33726816|PMID:33746161|PMID:33977078|PMID:34178123|PMID:34326862|PMID:34347074|PMID:34680242|PMID:35676339|PMID:35734982|PMID:35884469|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36421850|PMID:36522531|PMID:36988593|PMID:37088804|PMID:6096739|PMID:625353|PMID:7726159|PMID:7874129|PMID:8062247|PMID:8261515|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8640829|PMID:8872463|PMID:8895729|PMID:9002677|PMID:9125109|PMID:9222765|PMID:9288790|PMID:9311737|PMID:9536098|PMID:9621522|PMID:9718327|PMID:9774676
8767119	Msh2	mutS homolog 2	gene	DOID:1520	colon carcinoma		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:10523644|PMID:10612827|PMID:10612836|PMID:10777691|PMID:10995807|PMID:11291077|PMID:11772966|PMID:12124176|PMID:12362047|PMID:12436451|PMID:12624141|PMID:14574162|PMID:15680406|PMID:15713769|PMID:15849733|PMID:16034045|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16395668|PMID:16451135|PMID:16636019|PMID:16736289|PMID:16807412|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18383312|PMID:18951462|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19723918|PMID:19931546|PMID:20388775|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21520333|PMID:21642682|PMID:21681552|PMID:22102614|PMID:22290698|PMID:22371642|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23454724|PMID:23612316|PMID:23690608|PMID:23741719|PMID:23760103|PMID:24090359|PMID:24240112|PMID:24344984|PMID:24362816|PMID:24689082|PMID:25741868|PMID:26053027|PMID:26446363|PMID:26467025|PMID:26689913|PMID:26824983|PMID:26951660|PMID:27363726|PMID:28050010|PMID:28127413|PMID:28135145|PMID:28449805|PMID:28492532|PMID:28514183|PMID:28577310|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28828701|PMID:28874130|PMID:29212164|PMID:29345684|PMID:29752822|PMID:29887214|PMID:30267214|PMID:30521064|PMID:30608896|PMID:30998989|PMID:31118792|PMID:31207149|PMID:32068069|PMID:32720330|PMID:32885271|PMID:33015532|PMID:33357406|PMID:333574060|PMID:33422027|PMID:33848333|PMID:33858029|PMID:34178123|PMID:34326862|PMID:35430768|PMID:35884469|PMID:36113988|PMID:36522531|PMID:36988593|PMID:38355628|PMID:7726159|PMID:7874129|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8872463|PMID:9002677|PMID:9125109
8767119	Msh2	mutS homolog 2	gene	DOID:1596	depressive disorder		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:26467025|PMID:28492532|PMID:32885271|PMID:33357406
8767119	Msh2	mutS homolog 2	gene	DOID:1612	breast cancer		ISO	RGD:732745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21681552|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22585170|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31569399|PMID:32255556|PMID:32338768|PMID:32566746|PMID:32658311|PMID:32986223|PMID:33471991|PMID:8613431|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:1612	breast cancer		ISO	RGD:732745	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21681552|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22585170|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25117502|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31569399|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33357406|PMID:33471991|PMID:34755017|PMID:8613431|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:1612	breast cancer		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25117502|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:32019277|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33558524|PMID:33848333|PMID:34117267|PMID:34755017|PMID:8613431|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:1612	breast cancer		ISO	RGD:732745	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:32019277|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33468175|PMID:33471991|PMID:33558524|PMID:33848333|PMID:34117267|PMID:34755017|PMID:8613431|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:1612	breast cancer		ISO	RGD:732745	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:32019277|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33468175|PMID:33471991|PMID:33558524|PMID:33848333|PMID:34117267|PMID:34250417|PMID:34755017|PMID:35884469|PMID:36113988|PMID:8613431|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:1612	breast cancer		ISO	RGD:732745	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15713769|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:31660093|PMID:32019277|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32741062|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32926152|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33468175|PMID:33471991|PMID:33558524|PMID:33580181|PMID:33848333|PMID:34117267|PMID:34250417|PMID:34326862|PMID:34426522|PMID:34755017|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36113988|PMID:36451132|PMID:36672847|PMID:8613431|PMID:8700523|PMID:9259192|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:1612	breast cancer		ISO	RGD:732745	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15713769|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28422960|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:31660093|PMID:32019277|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32741062|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32926152|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33468175|PMID:33471991|PMID:33558524|PMID:33580181|PMID:33848333|PMID:34117267|PMID:34250417|PMID:34326862|PMID:34426522|PMID:34755017|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36011265|PMID:36113988|PMID:36243179|PMID:36451132|PMID:36672847|PMID:36845387|PMID:36896836|PMID:38509102|PMID:8613431|PMID:8700523|PMID:9259192|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:1612	breast cancer		ISO	RGD:732745	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15713769|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28422960|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:31660093|PMID:32019277|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32741062|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32926152|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:333574060|PMID:33468175|PMID:33471991|PMID:33558524|PMID:33580181|PMID:33848333|PMID:34117267|PMID:34250417|PMID:34326862|PMID:34426522|PMID:34755017|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36011265|PMID:36113988|PMID:36243179|PMID:36451132|PMID:36672847|PMID:36845387|PMID:36896836|PMID:38509102|PMID:8613431|PMID:8700523|PMID:9259192|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:1612	breast cancer		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:15872200|PMID:16885385|PMID:18383312|PMID:18561205|PMID:19389263|PMID:22290698|PMID:22581703|PMID:22949387|PMID:23047549|PMID:25032700|PMID:25559809|PMID:25741868|PMID:26333163|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:27363726|PMID:27978560|PMID:28492532|PMID:28765196|PMID:30877237|PMID:31386297|PMID:31391288|PMID:31970404|PMID:32443704|PMID:32652087|PMID:32885271|PMID:33326660|PMID:33357406|PMID:33848333|PMID:33980423|PMID:34250417|PMID:34326862|PMID:38874686|PMID:8613431
8767119	Msh2	mutS homolog 2	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:732745	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.G322D	PMID:16252083|REF_RGD_ID:2293512
8767119	Msh2	mutS homolog 2	gene	DOID:1673	pneumothorax		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumothorax	PMID:25741868|PMID:25938944|PMID:27363726|PMID:28492532|PMID:29625052|PMID:32885271|PMID:33357406|PMID:33471991
8767119	Msh2	mutS homolog 2	gene	DOID:1826	epilepsy		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:25938944|PMID:27363726|PMID:28492532|PMID:29625052|PMID:32885271|PMID:33357406|PMID:33471991
8767119	Msh2	mutS homolog 2	gene	DOID:2030	anxiety disorder		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:26467025|PMID:28492532|PMID:32885271|PMID:33357406
8767119	Msh2	mutS homolog 2	gene	DOID:2152	ovary epithelial cancer		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epithelial ovarian cancer	PMID:11208710|PMID:11524701|PMID:11601928|PMID:11854906|PMID:12414824|PMID:12547705|PMID:12658575|PMID:15713769|PMID:15849733|PMID:16116158|PMID:16237223|PMID:16616355|PMID:16807412|PMID:17229076|PMID:17312306|PMID:18270343|PMID:18566915|PMID:19723918|PMID:20215533|PMID:20233461|PMID:20587412|PMID:21598002|PMID:21879275|PMID:23047549|PMID:24033266|PMID:24344984|PMID:24362816|PMID:25430799|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27013479|PMID:27601186|PMID:28176205|PMID:28492532|PMID:28874130|PMID:28944238|PMID:30521064|PMID:30998989|PMID:31615790|PMID:31939059|PMID:34897210|PMID:9311737|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:219	colon cancer		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:12362047|PMID:15849733|PMID:16451135|PMID:16636019|PMID:17576681|PMID:20388775|PMID:21642682|PMID:24362816|PMID:25081409|PMID:25186627|PMID:25525159|PMID:25741868|PMID:26053027|PMID:26467025|PMID:26845104|PMID:27363726|PMID:27601186|PMID:27978560|PMID:28492532|PMID:28767289|PMID:30262796|PMID:32720330|PMID:32849802|PMID:33259954|PMID:33357406|PMID:33471991|PMID:33848333|PMID:36243179|PMID:7726159|PMID:9536098
8767119	Msh2	mutS homolog 2	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:732745	D	RGD:9068941	20210430	RGD			PMID:28411881|REF_RGD_ID:126790577
8767119	Msh2	mutS homolog 2	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:732745	D	RGD:9068941	20210430	RGD		DNA, mRNA:loss of heterogeneity, increased expression: :colon	PMID:29715107|REF_RGD_ID:126790554
8767119	Msh2	mutS homolog 2	gene	DOID:219	colon cancer	no_association	ISO	RGD:732745	D	RGD:9068941	20210430	RGD		DNA:SNP:intron:IVS10+12G>A (human)	PMID:29715107|REF_RGD_ID:126790554
8767119	Msh2	mutS homolog 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8767119	Msh2	mutS homolog 2	gene	DOID:2394	ovarian cancer		ISO	RGD:732745	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer	PMID:12376507|PMID:14514376|PMID:15046089|PMID:15613555|PMID:16425354|PMID:18383312|PMID:18726168|PMID:19419416|PMID:22006311|PMID:22949387|PMID:23047549|PMID:23760103|PMID:25085752|PMID:25637381|PMID:25741868|PMID:26333163|PMID:26467025|PMID:26824983|PMID:26845104|PMID:26951660|PMID:27974047|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28580595|PMID:28706299|PMID:28767289|PMID:29050249|PMID:29192238|PMID:29684080|PMID:30122538|PMID:30267214|PMID:30374176|PMID:30630526|PMID:30833958|PMID:30982232|PMID:31054147|PMID:31235699|PMID:31248605|PMID:31307542|PMID:31386297|PMID:32019277|PMID:32255556|PMID:32547938|PMID:32566746|PMID:32832836|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34755017
8767119	Msh2	mutS homolog 2	gene	DOID:2394	ovarian cancer		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inherited ovarian cancer (without breast cancer) | ClinVar Annotator: match by term: Ovarian cancer	PMID:12115503|PMID:12376507|PMID:12522549|PMID:12624141|PMID:15254659|PMID:15849733|PMID:15855432|PMID:16451135|PMID:16736289|PMID:17192056|PMID:17720936|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18951462|PMID:20007843|PMID:20176959|PMID:21120944|PMID:21788563|PMID:22290698|PMID:22581703|PMID:22949387|PMID:23047549|PMID:23760103|PMID:24033266|PMID:24040339|PMID:24326041|PMID:24362816|PMID:24933000|PMID:25133505|PMID:25186627|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26096739|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:27328445|PMID:27363726|PMID:27974047|PMID:28492532|PMID:28580595|PMID:28874130|PMID:29641532|PMID:29684080|PMID:30122538|PMID:30238922|PMID:30833958|PMID:31054147|PMID:31159747|PMID:31235699|PMID:31248605|PMID:31386297|PMID:32075053|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34347074|PMID:36243179|PMID:6096739
8767119	Msh2	mutS homolog 2	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:732745	D	RGD:9068941	20210430	RGD		associated with Lynch syndrome	PMID:22883484|REF_RGD_ID:126790557
8767119	Msh2	mutS homolog 2	gene	DOID:2871	endometrial carcinoma		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:10612827|PMID:12362047|PMID:15342696|PMID:15849733|PMID:16451135|PMID:17576681|PMID:21239990|PMID:21926548|PMID:24278394|PMID:24362816|PMID:25081409|PMID:25117503|PMID:25420488|PMID:25525159|PMID:25741868|PMID:27601186|PMID:27606285|PMID:28492532|PMID:29212164|PMID:29967423|PMID:32849802|PMID:32885271|PMID:33259954|PMID:33357406|PMID:9536098
8767119	Msh2	mutS homolog 2	gene	DOID:2876	laryngeal squamous cell carcinoma	disease_progression	ISO	RGD:732745	D	RGD:9068941	20210430	RGD		mRNA:decreased expression:larynx	PMID:23787767|REF_RGD_ID:126848783
8767119	Msh2	mutS homolog 2	gene	DOID:3068	glioblastoma		ISO	RGD:732745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Glioblastoma	PMID:25741868
8767119	Msh2	mutS homolog 2	gene	DOID:3070	high grade glioma		ISO	RGD:732745	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Ependymoma	PMID:11726306|PMID:15849733|PMID:17101317|PMID:25741868|PMID:28492532|PMID:28785832|PMID:33357406|PMID:34359559
8767119	Msh2	mutS homolog 2	gene	DOID:3347	osteosarcoma	disease_progression	ISO	RGD:732745	D	RGD:9068941	20210430	RGD			PMID:25503122|REF_RGD_ID:126848779
8767119	Msh2	mutS homolog 2	gene	DOID:3459	breast carcinoma		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:12660027|PMID:15849733|PMID:17312306|PMID:20587412|PMID:21642682|PMID:22208277|PMID:24344984|PMID:24362816|PMID:25430799|PMID:25741868|PMID:26467025|PMID:27064304|PMID:27601186|PMID:28152038|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28765196|PMID:29345684|PMID:30918532|PMID:31054147|PMID:31844177|PMID:32453797|PMID:32540221|PMID:33357406|PMID:33471991|PMID:9036882
8767119	Msh2	mutS homolog 2	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:732745	D	RGD:9068941	20200609	RGD			PMID:10769643|REF_RGD_ID:2293524
8767119	Msh2	mutS homolog 2	gene	DOID:3459	breast carcinoma	severity	ISO	RGD:732745	D	RGD:9068941	20200609	RGD			PMID:17394628|REF_RGD_ID:2293505
8767119	Msh2	mutS homolog 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:732745	D	RGD:9068941	20210430	RGD		DNA, protein:hypermethylation, decreased expression:esophagus	PMID:24366688|REF_RGD_ID:126790573
8767119	Msh2	mutS homolog 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:732745	D	RGD:9068941	20210430	RGD		DNA, protein:hypermethylation, decreased expression:promoter, esophagus	PMID:22265839|REF_RGD_ID:126790560
8767119	Msh2	mutS homolog 2	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:732745	D	RGD:9068941	20210430	RGD		DNA, protein:hypermethylation, decreased expression:promoter, esophagus	PMID:21674174|REF_RGD_ID:126790574
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11420466|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11854906|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33746161|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33746161|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34117267|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34837403|PMID:34906448|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32844218
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10630344|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10630344|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10630344|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36672847|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27854218|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36243179|PMID:36672847|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36243179|PMID:36672847|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32923906|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35884469|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36243179|PMID:36672847|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32923906|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35884469|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36243179|PMID:36672847|PMID:36845387|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27854218|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32923906|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34680242|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35676339|PMID:35884469|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36243179|PMID:3658675|PMID:36672847|PMID:36845387|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32923906|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34680242|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35358259|PMID:35370679|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35477782|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36169650|PMID:36243179|PMID:36359527|PMID:36421850|PMID:36451132|PMID:36550560|PMID:3658675|PMID:36672847|PMID:36845387|PMID:36988593|PMID:37088804|PMID:37262986|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10630344|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36672847|PMID:36845387|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25741905|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36672847|PMID:36845387|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29506494|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10533476|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10533476|PMID:10564582|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29506494|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34178123|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37314251|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27854218|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29506494|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10533476|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15689448|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:21943391|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27854218|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29506494|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35171259|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33048355|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35171259|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29506494|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25073507|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29506494|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33048355|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35171259|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36790526|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33048355|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35171259|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36790526|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:37894291|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176205|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31939059|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33048355|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34897210|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35171259|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36790526|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:37894291|PMID:38136308|PMID:38139220|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10533476|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17014712|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22081473|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26833332|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176205|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30212499|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31484976|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31664942|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31854063|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31939059|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33003368|PMID:33015532|PMID:33046448|PMID:33048355|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33858029|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34445631|PMID:34482403|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34676052|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34897210|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35127508|PMID:35128723|PMID:35171259|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35534704|PMID:35574377|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36293153|PMID:36303034|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36531003|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36790526|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36896836|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:37894291|PMID:38136308|PMID:38139220|PMID:38295319|PMID:38355628|PMID:38509102|PMID:38762859|PMID:39004446|PMID:39301527|PMID:39455978|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8509102|PMID:8521394
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10533476|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16372347|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17014712|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22081473|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22854115|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176205|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30212499|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31484976|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31664942|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31854063|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31939059|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32030746|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32390558|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33003368|PMID:33015532|PMID:33046448|PMID:33048355|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33858029|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34115236|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34445631|PMID:34482403|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34676052|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34897210|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35127508|PMID:35128723|PMID:35171259|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35534704|PMID:35574377|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36293153|PMID:36303034|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36531003|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36790526|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36896836|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:37894291|PMID:37937776|PMID:38136308|PMID:38139220|PMID:38295319|PMID:38355628|PMID:38509102|PMID:38762859|PMID:39004446|PMID:39301527|PMID:39455978|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:777949
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8509102|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176205|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30212499|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31484976|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31664942|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31854063|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31939059|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32030746|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32390558|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33003368|PMID:33015532|PMID:33046448|PMID:33048355|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33858029|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34115236|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34445631|PMID:34482403|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34676052|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34897210|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35127508|PMID:35128723|PMID:35171259|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35534704|PMID:35574377|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36293153|PMID:36303034|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36425062|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36531003|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36624813|PMID:36627197|PMID:36672847|PMID:36790526|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36896836|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:37894291|PMID:37937776|PMID:38136308|PMID:38139220|PMID:38295319|PMID:38355628|PMID:38509102|PMID:38762859|PMID:39004446|PMID:39301527|PMID:39455978|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:7717919|PMID:7726159|PMID:777949|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8509102|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:1|PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10533476|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16372347|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17014712|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17894833|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22081473|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22854115|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24293293|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27150160|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176205|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30212499|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159474|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31484976|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31664942|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31854063|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31939059|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32030746|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32390558|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33003368|PMID:33015532|PMID:33046448|PMID:33048355|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33858029|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34115236|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34445631|PMID:34482403|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34676052|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34897210|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35127508|PMID:35128723|PMID:35171259|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449021|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35534704|PMID:35574377|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36293153|PMID:36303034|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36425062|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36531003|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36624813|PMID:36627197|PMID:36672847|PMID:36790526|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36896836|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:37894291|PMID:37937776|PMID:38136308|PMID:38139220|PMID:38295319|PMID:38355628|PMID:38509102|PMID:38762859|PMID:39004446|PMID:39256447|PMID:39301527|PMID:39455978|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:7713503|PMID:7717919|PMID:7726159|PMID:777949|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8509102|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17894833|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22081473|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22854115|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24293293|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27150160|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176205|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30212499|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31114938|PMID:31118792|PMID:31159474|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31484976|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31664942|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31854063|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31939059|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32030746|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32390558|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33003368|PMID:33015532|PMID:33046448|PMID:33048355|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33858029|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34115236|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34445631|PMID:34482403|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34676052|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34897210|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35127508|PMID:35128723|PMID:35171259|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449021|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35534704|PMID:35574377|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36293153|PMID:36303034|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36425062|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36531003|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36624813|PMID:36627197|PMID:36672847|PMID:36790526|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36896836|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:37894291|PMID:37937776|PMID:38136308|PMID:38139220|PMID:38295319|PMID:38355628|PMID:38509102|PMID:38762859|PMID:39004446|PMID:39256447|PMID:39301527|PMID:39455978|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:777949|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8509102|PMID:8521394|PMID:8566964|PMID:8574961
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12173039|PMID:12200596|PMID:12324578|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235038|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15837969|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15949572|PMID:15955785|PMID:15959913|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16395668|PMID:16423994|PMID:16426447|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17014712|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17894833|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18561205|PMID:18566915|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome	PMID:18951462|PMID:18951465|PMID:18987546|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19173287|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19575290|PMID:19621678|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20591887|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21155023|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21590452|PMID:21598002|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22081473|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23047549|PMID:23248292|PMID:23354017|PMID:23354634|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23595612|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24073290|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24501230|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25307252|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25980754|PMID:26053027|PMID:26077460|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26437257|PMID:26440929|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26845104|PMID:26866578|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27284491|PMID:27287813|PMID:27329137|PMID:27363726|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27487738|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27720647|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28422960|PMID:28445943
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome	PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28643016|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29164703|PMID:29212164|PMID:29238914|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29731845|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30093976|PMID:30122538|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30584090|PMID:30608896|PMID:30651582|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31332305|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31569399|PMID:31588121|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31664942|PMID:31666926|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31997046|PMID:32019277|PMID:32090079|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32447321|PMID:32459922|PMID:32489267|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32637358|PMID:32658311|PMID:32659967|PMID:32694065|PMID:32719484|PMID:32720330|PMID:32794040|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:33046448|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33208383|PMID:33259954|PMID:33309985|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33654310|PMID:33746161|PMID:33848333|PMID:33977078|PMID:34039291|PMID:34115236|PMID:34178123|PMID:34213665|PMID:34250417|PMID:34326862|PMID:34359559|PMID:34567566|PMID:34667028|PMID:34680242|PMID:34687117|PMID:34712484|PMID:34761252|PMID:34761457|PMID:34906448|PMID:34964002|PMID:35101336|PMID:35171259|PMID:35224146|PMID:35260566|PMID:35264596|PMID:35313100|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35487642|PMID:35534704|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35980532|PMID:36011265|PMID:36037994|PMID:36113988|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36293153|PMID:36303034|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36451132|PMID:36457512|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36988593|PMID:37088804|PMID:37314251|PMID:37370996|PMID:37894291|PMID:37919876|PMID:37937776|PMID:38295319|PMID:38731914|PMID:38762859|PMID:39004446|PMID:39096151|PMID:39256447|PMID:39301527|PMID:39400928|PMID:39455978|PMID:6329717|PMID:6530882|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:777949|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome	PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8931714|PMID:9002677|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9536098|PMID:9593786|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10564582|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12173039|PMID:12200596|PMID:12324578|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235038|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15837969|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15870828|PMID:15872200|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15949572|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16395668|PMID:16423994|PMID:16426447|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17014712|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17894833|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18270343|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18561205|PMID:18566915|PMID:18625694|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19173287
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19575290|PMID:19621678|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20591887|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20877318|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22081473|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:23047549|PMID:23248292|PMID:23354017|PMID:23354634|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23537056|PMID:23588873|PMID:23595612|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24073290|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24415873|PMID:24501230|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933100|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25980754|PMID:26053027|PMID:26077460|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26333163|PMID:26344056|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27284491|PMID:27287813|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27487738|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27720647|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28577310|PMID:28580595|PMID:28643016|PMID:28724667
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29164703|PMID:29212164|PMID:29238914|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29731845|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30093976|PMID:30122538|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30584090|PMID:30608896|PMID:30651582|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31332305|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31491536|PMID:31494577|PMID:31569399|PMID:31588121|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31664942|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31997046|PMID:32068069|PMID:32091409|PMID:32283892|PMID:32338768|PMID:32424176|PMID:32447321|PMID:32459922|PMID:32547938|PMID:32549215|PMID:3258778|PMID:32587781|PMID:32637358|PMID:32658311|PMID:32659967|PMID:32694065|PMID:32719484|PMID:32720330|PMID:32794040|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:33015532|PMID:33046448|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33208383|PMID:33259954|PMID:33309985|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33647816|PMID:33654310|PMID:33746161|PMID:33848333|PMID:33866195|PMID:33977078|PMID:34039291|PMID:34178123|PMID:34213665|PMID:34250417|PMID:34326862|PMID:34330892|PMID:34359559|PMID:34567566|PMID:34667028|PMID:34680242|PMID:34687117|PMID:34712484|PMID:34761252|PMID:34761457|PMID:34906448|PMID:34964002|PMID:35101336|PMID:35171259|PMID:35224146|PMID:35260566|PMID:35264596|PMID:35313100|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35487642|PMID:35534704|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35980532|PMID:36011265|PMID:36037994|PMID:36073783|PMID:36113988|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36293153|PMID:36303034|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37314251|PMID:37370996|PMID:37894291|PMID:37919876|PMID:37937776|PMID:38136308|PMID:38295319|PMID:38308423|PMID:38731914|PMID:38762859|PMID:39004446|PMID:39096151|PMID:39301527|PMID:39400928|PMID:39455978|PMID:6329717|PMID:6530882|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8931714|PMID:9002677|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:9506527|PMID:9536098|PMID:9593786|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10850409|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12173039|PMID:12200596|PMID:12203789|PMID:12324578|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235038|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15837969|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15870828|PMID:15872200|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15949572|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16395668|PMID:16423994|PMID:16426447|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17014712|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17894833|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18270343|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18561205|PMID:18566915|PMID:18625694|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:19173287|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19575290|PMID:19621678|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20591887|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20872076|PMID:20877318|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:23047549|PMID:23248292|PMID:23354017|PMID:23354634|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23537056|PMID:23588873|PMID:23595612|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24073290|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24415873|PMID:24501230|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25980754|PMID:26053027|PMID:26077460|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27284491|PMID:27287813|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27487738|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27720647|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28514183|PMID:28526081|PMID:28528518
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29212164|PMID:29238914|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29731845|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30044143|PMID:30077346|PMID:30093976|PMID:30122538|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30584090|PMID:30608896|PMID:30651582|PMID:30680046|PMID:30702970|PMID:30710526|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31332305|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31569399|PMID:31588121|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31690835|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31854063|PMID:31857677|PMID:31874108|PMID:31911633|PMID:31997046|PMID:32068069|PMID:32091409|PMID:32283892|PMID:32338768|PMID:32424176|PMID:32447321|PMID:32459922|PMID:32549215|PMID:3258778|PMID:32587781|PMID:32637358|PMID:32658311|PMID:32659967|PMID:32694065|PMID:32719484|PMID:32720330|PMID:32794040|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:33015532|PMID:33046448|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33208383|PMID:33259954|PMID:33309985|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33647816|PMID:33654310|PMID:33746161|PMID:33848333|PMID:33858029|PMID:33866195|PMID:33977078|PMID:34039291|PMID:34178123|PMID:34203177|PMID:34213665|PMID:34250417|PMID:34326862|PMID:34330892|PMID:34359559|PMID:34445631|PMID:34567566|PMID:34570441|PMID:34667028|PMID:34680242|PMID:34687117|PMID:34712484|PMID:34761252|PMID:34761457|PMID:34906448|PMID:34964002|PMID:35101336|PMID:35171259|PMID:35224146|PMID:35260566|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35487642|PMID:35534704|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36037994|PMID:36113988|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36303034|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37314251|PMID:37370996|PMID:37538120|PMID:37894291|PMID:37919876|PMID:37937776|PMID:38136308|PMID:38308423|PMID:38355628|PMID:38731914|PMID:39004446|PMID:39096151|PMID:39301527|PMID:39400928|PMID:39455978|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8931714|PMID:9002677|PMID:9048925
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:9066723|PMID:9087566|PMID:9125109|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
8767119	Msh2	mutS homolog 2	gene	DOID:3883	Lynch syndrome	onset	ISO	RGD:732745	D	RGD:9068941	20210430	RGD			PMID:10404063|REF_RGD_ID:11063948
8767119	Msh2	mutS homolog 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:732745	D	RGD:9068941	20210430	RGD			PMID:32211850|REF_RGD_ID:126848780
8767119	Msh2	mutS homolog 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:732745	D	RGD:9068941	20210430	RGD		protein:decreased expression:lung	PMID:16783774|REF_RGD_ID:126848791
8767119	Msh2	mutS homolog 2	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:732745	D	RGD:9068941	20210430	RGD		DNA:SNP: :rs6544991 (human)	PMID:28093084|REF_RGD_ID:126848786
8767119	Msh2	mutS homolog 2	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:732745	D	RGD:9068941	20210507	RGD			PMID:20145178|PMID:20458443|REF_RGD_ID:126848789|REF_RGD_ID:126848800
8767119	Msh2	mutS homolog 2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:732745	D	RGD:9068941	20210507	RGD		DNA:polymorphisms:introns:IVS10+12A>G, IVS12-6T>C (human)	PMID:16614121|REF_RGD_ID:11065547
8767119	Msh2	mutS homolog 2	gene	DOID:3910	lung adenocarcinoma	no_association	ISO	RGD:732745	D	RGD:9068941	20210507	RGD		DNA:polymorphisms:promoter, intron:-118T>C, IVS1+9G>C (human)	PMID:16614121|REF_RGD_ID:11065547
8767119	Msh2	mutS homolog 2	gene	DOID:3962	follicular thyroid carcinoma		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Follicular thyroid carcinoma	PMID:25741868|PMID:26467025|PMID:28466842|PMID:28492532|PMID:28765196
8767119	Msh2	mutS homolog 2	gene	DOID:4362	cervical cancer		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer | ClinVar Annotator: match by term: cervix cancer	PMID:26845104
8767119	Msh2	mutS homolog 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:732745	D	RGD:9068941	20260521	RGD		protein:decreased expression:kidney	PMID:16426918|REF_RGD_ID:2293509
8767119	Msh2	mutS homolog 2	gene	DOID:4606	bile duct cancer		ISO	RGD:732745	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Bile duct cancer	PMID:25741868|PMID:33357406
8767119	Msh2	mutS homolog 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8767119	Msh2	mutS homolog 2	gene	DOID:5041	esophageal cancer		ISO	RGD:732745	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8767119	Msh2	mutS homolog 2	gene	DOID:5374	pilomatrixoma		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pilomatrixoma	PMID:25741868|PMID:25938944|PMID:27363726|PMID:28492532|PMID:29625052|PMID:32885271|PMID:33357406|PMID:33471991
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10080150|PMID:10469597|PMID:10612827|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21520333|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:33357406|PMID:33471991|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9536098|PMID:9559627|PMID:9611074
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:33357406|PMID:33471991|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33357406|PMID:33471991|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16327991|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:9298827|PMID:9559627|PMID:9611074
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20388775|PMID:20587412|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32957588|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34347074|PMID:34371384|PMID:35245693|PMID:35263119|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8993976|PMID:9298827|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20388775|PMID:20587412|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32957588|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33848333|PMID:33980423|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:35245693|PMID:35263119|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8993976|PMID:9298827|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20388775|PMID:20587412|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32957588|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33848333|PMID:33980423|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:35245693|PMID:35263119|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8993976|PMID:9298827|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20388775|PMID:20587412|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32957588|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33848333|PMID:33980423|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:35245693|PMID:35263119|PMID:35449176|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8993976|PMID:9298827|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20388775|PMID:20587412|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32957588|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33848333|PMID:33980423|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:35245693|PMID:35263119|PMID:35449176|PMID:35884469|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8993976|PMID:9298827|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20388775|PMID:20587412|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32741062|PMID:32926152|PMID:32957588|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33580181|PMID:33848333|PMID:33980423|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34570441|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35884469|PMID:3616036|PMID:36243179|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12419761|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28765196|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33580181|PMID:33848333|PMID:33980423
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36135357|PMID:3616036|PMID:36243179|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12419761|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28765196|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29506494|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33580181|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36135357|PMID:3616036|PMID:36243179|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12419761|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24933000|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28765196|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29506494|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32652087|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33580181|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34250417|PMID:34426522|PMID:34570441|PMID:34837403|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36135357|PMID:3616036
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:36243179|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12419761|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28765196|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29506494|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33580181
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36135357|PMID:3616036|PMID:36243179|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12419761|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28765196|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29506494|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12419761|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15689448|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:21943391|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28765196|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29506494|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33357406|PMID:33471991|PMID:33580181|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36135357|PMID:3616036|PMID:36243179|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12419761|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28765196|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29506494|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33471991|PMID:33580181|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36135357|PMID:3616036|PMID:36243179|PMID:36845387|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12419761|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:21926548|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24506336|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24763289|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28640387|PMID:28765196|PMID:28828701|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29506494|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32719484|PMID:32741062|PMID:32809219
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33580181|PMID:33630411|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36135357|PMID:3616036|PMID:36243179|PMID:36845387|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12419761|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:21926548|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24506336|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24763289|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28640387|PMID:28765196|PMID:28828701|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29506494|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32926152
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33580181|PMID:33630411|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36135357|PMID:3616036|PMID:36243179|PMID:36845387|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12419761|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:21926548|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24506336|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24763289|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28640387|PMID:28765196|PMID:28828701|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33580181|PMID:33630411|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36135357|PMID:3616036|PMID:36243179|PMID:36845387|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:21926548|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24506336|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24763289|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28640387|PMID:28765196|PMID:28828701|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33580181|PMID:33630411|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34482403|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35534704|PMID:35884469|PMID:36135357|PMID:3616036|PMID:36243179|PMID:36793599|PMID:36845387|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:21926548|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24506336|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24763289|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28640387|PMID:28765196|PMID:28828701|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33580181|PMID:33630411|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34482403|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35534704|PMID:35884469|PMID:3616036|PMID:36243179|PMID:36793599|PMID:36845387|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:21926548|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24506336|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24763289|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28640387|PMID:28765196|PMID:28828701|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33580181
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33630411|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34482403|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35534704|PMID:35884469|PMID:3616036|PMID:36243179|PMID:36550560|PMID:36793599|PMID:36845387|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:21926548|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24506336|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24763289|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28640387|PMID:28765196|PMID:28828701|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33471991|PMID:33580181|PMID:33630411|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34482403|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35534704|PMID:35884469|PMID:3616036|PMID:36243179|PMID:36550560|PMID:36793599|PMID:36845387|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:21926548|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24506336|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24763289|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28640387|PMID:28765196|PMID:28828701|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31874108|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33357406|PMID:33471991|PMID:33580181|PMID:33630411|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34482403|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35534704|PMID:35884469|PMID:3616036|PMID:36243179|PMID:36550560|PMID:36793599|PMID:36845387|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10777691|PMID:10812001|PMID:11920650|PMID:12132870|PMID:12792735|PMID:14514376|PMID:15046089|PMID:15872200|PMID:16327991|PMID:16425354|PMID:16885385|PMID:17101317|PMID:17350822|PMID:17720936|PMID:17894833|PMID:18383312|PMID:18951462|PMID:19389263|PMID:20043121|PMID:21528233|PMID:22102614|PMID:22290698|PMID:22581703|PMID:23047549|PMID:23760103|PMID:24362816|PMID:25032700|PMID:25186627|PMID:25559809|PMID:25741868|PMID:26332594|PMID:26333163|PMID:26380806|PMID:26467025|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27363726|PMID:28135145|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28580595|PMID:28765196|PMID:29050249|PMID:29192238|PMID:29641532|PMID:29752822|PMID:30374176|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31237724|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34115236|PMID:34326862|PMID:35449176|PMID:35884469|PMID:36243179|PMID:38731914|PMID:6951660|PMID:9298827
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10777691|PMID:10812001|PMID:11920650|PMID:12792735|PMID:14514376|PMID:15046089|PMID:15872200|PMID:16327991|PMID:16425354|PMID:16885385|PMID:17101317|PMID:17350822|PMID:17720936|PMID:17894833|PMID:18383312|PMID:18951462|PMID:19389263|PMID:20043121|PMID:21528233|PMID:22102614|PMID:22290698|PMID:22581703|PMID:23047549|PMID:23760103|PMID:24362816|PMID:25032700|PMID:25186627|PMID:25559809|PMID:25741868|PMID:26332594|PMID:26333163|PMID:26380806|PMID:26467025|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27363726|PMID:28135145|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28580595|PMID:28765196|PMID:29050249|PMID:29192238|PMID:29641532|PMID:29752822|PMID:30374176|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31237724|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32255556|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34115236|PMID:34326862|PMID:35449176|PMID:35884469|PMID:36243179|PMID:38731914|PMID:6951660|PMID:9298827
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10024676|PMID:10777691|PMID:10812001|PMID:11920650|PMID:12792735|PMID:14514376|PMID:15046089|PMID:15872200|PMID:16327991|PMID:16425354|PMID:16885385|PMID:17101317|PMID:17350822|PMID:17720936|PMID:17894833|PMID:18383312|PMID:18951462|PMID:19389263|PMID:20043121|PMID:21528233|PMID:22102614|PMID:22290698|PMID:22581703|PMID:23047549|PMID:23760103|PMID:24362816|PMID:25032700|PMID:25186627|PMID:25559809|PMID:25741868|PMID:26332594|PMID:26333163|PMID:26380806|PMID:26467025|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27363726|PMID:28135145|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28580595|PMID:28765196|PMID:29050249|PMID:29192238|PMID:29641532|PMID:29684080|PMID:29752822|PMID:30374176|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31237724|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32255556|PMID:32547938|PMID:32658311|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34115236|PMID:34326862|PMID:35449176|PMID:35884469|PMID:36243179|PMID:38731914|PMID:6951660|PMID:9298827
8767119	Msh2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10024676|PMID:10777691|PMID:10812001|PMID:11920650|PMID:12792735|PMID:14499697|PMID:14514376|PMID:15046089|PMID:15365995|PMID:15527911|PMID:15872200|PMID:16425354|PMID:16885385|PMID:17350822|PMID:17720936|PMID:17894833|PMID:18383312|PMID:19389263|PMID:20043121|PMID:21309037|PMID:21528233|PMID:22179786|PMID:22290698|PMID:22581703|PMID:22739024|PMID:22949387|PMID:23047549|PMID:23741719|PMID:23760103|PMID:24362816|PMID:24933000|PMID:25032700|PMID:25186627|PMID:25559809|PMID:25741868|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26380806|PMID:26467025|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27363726|PMID:28135145|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28580595|PMID:28765196|PMID:29050249|PMID:29192238|PMID:29641532|PMID:29752822|PMID:30093976|PMID:30374176|PMID:30982232|PMID:31054147|PMID:31237724|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32255556|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34115236|PMID:34326862|PMID:34570441|PMID:35449176|PMID:35884469|PMID:36243179|PMID:38731914|PMID:8613431|PMID:9559627
8767119	Msh2	mutS homolog 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767119	Msh2	mutS homolog 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8767119	Msh2	mutS homolog 2	gene	DOID:7998	hyperthyroidism		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:26467025|PMID:27363726|PMID:28492532|PMID:31391288|PMID:33357406|PMID:34326862
8767119	Msh2	mutS homolog 2	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:732745	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:15807307|REF_RGD_ID:2293515
8767119	Msh2	mutS homolog 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:732745	D	RGD:9068941	20210507	RGD		associated with laryngeal squamous cell carcinoma	PMID:24459922|REF_RGD_ID:126848797
8767119	Msh2	mutS homolog 2	gene	DOID:9000351	Diarrhea 9		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25186627|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27363726|PMID:28492532|PMID:28767289|PMID:30262796|PMID:33471991|PMID:33848333|PMID:36243179
8767119	Msh2	mutS homolog 2	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms	disease_progression	ISO	RGD:732745	D	RGD:9068941	20200609	RGD			PMID:15492498|REF_RGD_ID:2293516
8767119	Msh2	mutS homolog 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:732745	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms	PMID:17390069|REF_RGD_ID:2293506
8767119	Msh2	mutS homolog 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25186627|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27363726|PMID:28492532|PMID:28767289|PMID:30262796|PMID:33471991|PMID:33848333|PMID:36243179
8767119	Msh2	mutS homolog 2	gene	DOID:9001733	Tinnitus		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532|PMID:33357406
8767119	Msh2	mutS homolog 2	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm	PMID:18383312|PMID:23047549|PMID:23729658|PMID:25479140|PMID:25741868|PMID:25964535|PMID:25987035|PMID:26467025|PMID:27363726|PMID:27449771|PMID:28492532|PMID:33471991|PMID:35264596|PMID:35980532|PMID:38308423
8767119	Msh2	mutS homolog 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colonic neoplasm	PMID:25741868|PMID:28492532|PMID:33357406
8767119	Msh2	mutS homolog 2	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:732745	D	RGD:9068941	20200609	RGD		protein:decreased expression:uterine cervix	PMID:17596548|REF_RGD_ID:2293504
8767119	Msh2	mutS homolog 2	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:732745	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:15807307|REF_RGD_ID:2293515
8767119	Msh2	mutS homolog 2	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BTP1 SYNDROME | ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1	PMID:16929514|PMID:17011982|PMID:18383312|PMID:22290698|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27363726|PMID:28492532|PMID:28767289|PMID:29731845|PMID:30238922|PMID:30262796|PMID:31237724|PMID:31391288|PMID:32832836|PMID:33357406|PMID:33471991|PMID:33606809|PMID:33848333|PMID:34761457|PMID:36243179|PMID:36672847
8767119	Msh2	mutS homolog 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8767119	Msh2	mutS homolog 2	gene	DOID:9005147	Hydatidiform Mole		ISO	RGD:732745	D	RGD:9068941	20200609	RGD		DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell	PMID:15338238|REF_RGD_ID:2293517
8767119	Msh2	mutS homolog 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:25938944|PMID:27363726|PMID:28492532|PMID:29625052|PMID:32885271|PMID:33357406|PMID:33471991
8767119	Msh2	mutS homolog 2	gene	DOID:9005734	Abdominal Pain		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:15849733|PMID:21642682|PMID:24362816|PMID:25741868|PMID:28492532
8767119	Msh2	mutS homolog 2	gene	DOID:9005761	Mismatch Repair Cancer Syndrome 2		ISO	RGD:732745	D	RGD:7240710	20201202	OMIM			
8767119	Msh2	mutS homolog 2	gene	DOID:9005761	Mismatch Repair Cancer Syndrome 2		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 2 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 2	PMID:10190329|PMID:11606497|PMID:11782355|PMID:12124176|PMID:14514376|PMID:14526391|PMID:15365995|PMID:15849733|PMID:15872200|PMID:16216036|PMID:16372347|PMID:16995940|PMID:17101317|PMID:17894833|PMID:18383312|PMID:18561205|PMID:18781192|PMID:20223042|PMID:20459533|PMID:20937110|PMID:21671081|PMID:21837758|PMID:22290698|PMID:22480969|PMID:23047549|PMID:24033266|PMID:24362816|PMID:25110875|PMID:25194673|PMID:25370038|PMID:25525159|PMID:25648859|PMID:25673086|PMID:25741868|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26681312|PMID:26692440|PMID:26866578|PMID:2712738|PMID:27363726|PMID:27601186|PMID:27618451|PMID:28202063|PMID:28449805|PMID:28492532|PMID:28874130|PMID:29212164|PMID:29345684|PMID:29442399|PMID:29641532|PMID:29887214|PMID:29945567|PMID:29967336|PMID:30322717|PMID:31068090|PMID:31159747|PMID:31237724|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31428572|PMID:31997046|PMID:32980694|PMID:33309985|PMID:33357406|PMID:33383211|PMID:33471991|PMID:34213665|PMID:35224146|PMID:35487642|PMID:35676339|PMID:36457512|PMID:36593122|PMID:36627197|PMID:7616541|PMID:8521394|PMID:8880570|PMID:9718327|PMID:9774676
8767119	Msh2	mutS homolog 2	gene	DOID:9005804	Vulvar Neoplasms		ISO	RGD:732745	D	RGD:9068941	20200609	RGD		protein:increased expression:vulva	PMID:15870899|REF_RGD_ID:2293514
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11420466|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14692024|PMID:14871975|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17128465|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17720936|PMID:17846840|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:2695166|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27628256|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28580595|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31666926|PMID:31857677|PMID:31881200|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32660107|PMID:32741062|PMID:32941469|PMID:32957588|PMID:32986223|PMID:32994724|PMID:33357406|PMID:33383211|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34347074|PMID:34371384|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11420466|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14692024|PMID:14871975|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17128465|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17720936|PMID:17846840|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28828701|PMID:28873162
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31666926|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32741062|PMID:32849802|PMID:32941469|PMID:32957588|PMID:32986223|PMID:32994724|PMID:33357406|PMID:33383211|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34347074|PMID:34371384|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32741062|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32741062|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18822302|PMID:18931482
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34178123
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35223509|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:33850299|PMID:33939675|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33191490|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35676339|PMID:35884469|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36243179|PMID:36672847|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28929227|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33191490|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35676339|PMID:35884469|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36243179|PMID:36672847|PMID:36845387|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27854218|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28929227|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33191490|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34680242|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35223509|PMID:35224146|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35676339|PMID:35884469|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36243179|PMID:3658675|PMID:36672847|PMID:36845387|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18550572|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22081473|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176205|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31939059|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32390558|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33048355|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34897210|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36790526|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:37894291|PMID:38136308|PMID:38139220|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17014712|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22081473|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176205|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30212499|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31484976|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31647837|PMID:31650731|PMID:31660093|PMID:31664942|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31854063|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31939059|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32030746|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32390558|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33003368|PMID:33015532|PMID:33048355|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33858029|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34115236|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34445631|PMID:34482403|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34676052|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34897210|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35127508|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35534704|PMID:35574377|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36293153|PMID:36303034|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36531003|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36790526|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36896836|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:37894291|PMID:37937776|PMID:38136308|PMID:38139220|PMID:38295319|PMID:38355628|PMID:38509102|PMID:38762859|PMID:39004446|PMID:39301527|PMID:39455978|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:777949|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8509102|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer predisposing syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10077621|PMID:10080150|PMID:10190329|PMID:10404063|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10777691|PMID:10812001|PMID:10874307|PMID:10970737|PMID:10978353|PMID:11074494|PMID:11112663|PMID:11379475|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11782355|PMID:11920650|PMID:12112654|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12386821|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12624141|PMID:12658575|PMID:12875840|PMID:12907901|PMID:14504054|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14635101|PMID:14692024|PMID:14970868|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15345113|PMID:15365995|PMID:15520370|PMID:15680406|PMID:15713769|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15996210|PMID:16007150|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16327991|PMID:16341550|PMID:16395668|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16616355|PMID:16736289|PMID:16807412|PMID:16826164|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17051350|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17123147|PMID:17192056|PMID:17199584|PMID:17312306|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17720936|PMID:17894833|PMID:17939062|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18270343|PMID:18307539|PMID:18383312|PMID:18389388|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18759827|PMID:18781192|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18987546|PMID:19072991|PMID:19100506|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19697156|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:20007843|PMID:20052760|PMID:20176959|PMID:20215533|PMID:20223042|PMID:20223835|PMID:20233461|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21156417|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21837758|PMID:21879275|PMID:21926548|PMID:22039344|PMID:22067334|PMID:22081473|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22581703|PMID:22669205|PMID:22691310|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:23012121|PMID:23047549|PMID:23248292|PMID:23354017|PMID:23354634|PMID:23454724|PMID:23523604|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24501230|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24767862|PMID:24903654|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25741868|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25980754|PMID:26053027|PMID:26076155|PMID:26177554|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26467025
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer predisposing syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26517685|PMID:26580448|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26951660|PMID:26976419|PMID:27013479|PMID:27064304|PMID:27153395|PMID:27300758|PMID:27329137|PMID:27363726|PMID:27443514|PMID:27449771|PMID:27487738|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28051113|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28258479|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28514183|PMID:28526081|PMID:28577310|PMID:28580595|PMID:28596308|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29025590|PMID:29107668|PMID:29212164|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29571084|PMID:29575718|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30029678|PMID:30077346|PMID:30122538|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30584090|PMID:30608896|PMID:30693488|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31447099|PMID:31494577|PMID:31569399|PMID:31588121|PMID:31615790|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31725351|PMID:31742824|PMID:31822864|PMID:31843900|PMID:31997046|PMID:32090079|PMID:32091409|PMID:32255556|PMID:32390558|PMID:32459922|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32660107|PMID:32694065|PMID:32794040|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33357406|PMID:333574060|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33646313|PMID:33654310|PMID:33848333|PMID:33939675|PMID:33977078|PMID:34082788|PMID:34115236|PMID:34178123|PMID:34213665|PMID:34250417|PMID:34326862|PMID:34359559|PMID:34680242|PMID:34761252|PMID:34761457|PMID:34906448|PMID:34964002|PMID:34990208|PMID:35100712|PMID:35171259|PMID:35223509|PMID:35224146|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449021|PMID:35449176|PMID:35487642|PMID:35534704|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35680043|PMID:35892341|PMID:35980532|PMID:36113988|PMID:36230473|PMID:36243179|PMID:36359527|PMID:36425062|PMID:36457512|PMID:36531003|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36624813|PMID:36627197|PMID:36672847|PMID:36845387|PMID:36972026|PMID:36988593|PMID:37088804|PMID:37239438|PMID:37370996|PMID:37894291|PMID:37919876|PMID:37937776|PMID:38731914|PMID:39004446|PMID:39096151|PMID:39256447|PMID:39301527|PMID:39400928|PMID:6530882|PMID:7616541|PMID:7726159|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8640829|PMID:8690195|PMID:8808596|PMID:8880570|PMID:9048925|PMID:9066723|PMID:9222765|PMID:9240418|PMID:9419403|PMID:9536098|PMID:9634524|PMID:9718327|PMID:9774676|PMID:9777949
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10077621|PMID:10080150|PMID:10190329|PMID:10404063|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10777691|PMID:10812001|PMID:10874307|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11291077|PMID:11379475|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11772966|PMID:11782355|PMID:11920650|PMID:12112654|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12386821|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12624141|PMID:12658575|PMID:12875840|PMID:12907901|PMID:14499697|PMID:14504054|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14635101|PMID:14692024|PMID:14970868|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15345113|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15680406|PMID:15713769|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15996210|PMID:16007150|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16327991|PMID:16341550|PMID:16395668|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16807412|PMID:16826164|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17051350|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17123147|PMID:17192056|PMID:17199584|PMID:17312306|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17720936|PMID:17894833|PMID:17939062|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18270343|PMID:18307539|PMID:18383312|PMID:18389388|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18625694|PMID:18726168|PMID:18759827|PMID:18781192|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18987546|PMID:19072991|PMID:19100506|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19697156|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20052760|PMID:20176959|PMID:20223042|PMID:20223835|PMID:20233461|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21156417|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21837758|PMID:21879275|PMID:21926548|PMID:22039344|PMID:22067334|PMID:22081473|PMID:22102614|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22669205|PMID:22691310|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:23012121|PMID:23047549|PMID:23248292|PMID:23354017|PMID:23354634|PMID:23454724|PMID:23523604|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24090359|PMID:24240112|PMID:24278394|PMID:24310308|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24501230|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24767862|PMID:24903654|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25639900
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:25648859|PMID:25673086|PMID:25741868|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25980754|PMID:26053027|PMID:26076155|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26446363|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26648449|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26951660|PMID:26976419|PMID:27064304|PMID:27153395|PMID:27300758|PMID:27329137|PMID:27363726|PMID:27443514|PMID:27449771|PMID:27487738|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28258479|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28514183|PMID:28577310|PMID:28580595|PMID:28596308|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29212164|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30077346|PMID:30093976|PMID:30122538|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30584090|PMID:30608896|PMID:30693488|PMID:30702970|PMID:30710526|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31428572|PMID:31447099|PMID:31494577|PMID:31569399|PMID:31588121|PMID:31615790|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31725351|PMID:31742824|PMID:31822864|PMID:31843900|PMID:31997046|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32390558|PMID:32459922|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32660107|PMID:32694065|PMID:32720330|PMID:32794040|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:33015532|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33357406|PMID:333574060|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33606809|PMID:33615670|PMID:33646313|PMID:33654310|PMID:33848333|PMID:33858029|PMID:33866195|PMID:33939675|PMID:34082788|PMID:34115236|PMID:34178123|PMID:34203177|PMID:34213665|PMID:34250417|PMID:34326862|PMID:34330892|PMID:34359559|PMID:34570441|PMID:34761252|PMID:34761457|PMID:34906448|PMID:34964002|PMID:34990208|PMID:35100712|PMID:35171259|PMID:35223509|PMID:35224146|PMID:35358259|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449021|PMID:35449176|PMID:35487642|PMID:35534704|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35680043|PMID:35884469|PMID:35892341|PMID:35980532|PMID:36113988|PMID:36230473|PMID:36243179|PMID:36359527|PMID:36425062|PMID:36457512|PMID:36522531|PMID:36531003|PMID:36550560|PMID:36586540|PMID:3658675|PMID:36593122|PMID:36624813|PMID:36627197|PMID:36672847|PMID:36845387|PMID:36875157|PMID:36972026|PMID:36988593|PMID:37088804|PMID:37239438|PMID:37370996|PMID:37894291|PMID:37919876|PMID:37937776|PMID:38355628|PMID:38731914|PMID:39004446|PMID:39096151|PMID:39301527
8767119	Msh2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:39400928|PMID:6530882|PMID:7616541|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8808596|PMID:8872463|PMID:8880570|PMID:9002677|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9419403|PMID:9536098|PMID:9559627|PMID:9634524|PMID:9718327|PMID:9774676|PMID:9777949
8767119	Msh2	mutS homolog 2	gene	DOID:9007090	Experimental Seizures		ISO	RGD:620786	D	RGD:9068941	20241214	RGD		protein:increased expression:hippocampus, neuron	PMID:10625070|REF_RGD_ID:2293528
8767119	Msh2	mutS homolog 2	gene	DOID:9007150	Urogenital Neoplasms		ISO	RGD:732745	D	RGD:9068941	20200609	RGD		protein:decreased expression	PMID:16288216|REF_RGD_ID:2293511
8767119	Msh2	mutS homolog 2	gene	DOID:9007701	Central Nervous System Neoplasms		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm of the central nervous system	PMID:18383312|PMID:22290698|PMID:25741868|PMID:26467025|PMID:26810070|PMID:27363726|PMID:28492532|PMID:33357406|PMID:33848333|PMID:35666082|PMID:35980532|PMID:9718327
8767119	Msh2	mutS homolog 2	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:732745	D	RGD:9068941	20200609	RGD			PMID:11920468|REF_RGD_ID:2293523
8767119	Msh2	mutS homolog 2	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:732745	D	RGD:9068941	20200609	RGD		DNA, protein:mutation, decreased expression:endometrium	PMID:17925543|REF_RGD_ID:2298951
8767119	Msh2	mutS homolog 2	gene	DOID:9007998	Hydatidiform Mole, Invasive		ISO	RGD:732745	D	RGD:9068941	20200609	RGD		protein:decreased expression:mononuclear cytotrophoblast cell	PMID:15338238|REF_RGD_ID:2293517
8767119	Msh2	mutS homolog 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25186627|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27363726|PMID:28492532|PMID:28767289|PMID:30262796|PMID:33471991|PMID:33848333|PMID:36243179
8767119	Msh2	mutS homolog 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:732745	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18949393
8767119	Msh2	mutS homolog 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732745	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:11074494|PMID:11782355|PMID:15235030|PMID:15365995|PMID:15713769|PMID:15849733|PMID:16199547|PMID:16395668|PMID:16807412|PMID:17576681|PMID:18033691|PMID:18805575|PMID:19669161|PMID:21360204|PMID:21520333|PMID:21642682|PMID:22949387|PMID:24362816|PMID:24903654|PMID:25025451|PMID:25559809|PMID:25741868|PMID:26247049|PMID:26467025|PMID:27064304|PMID:27363726|PMID:28152038|PMID:28466842|PMID:28492532|PMID:28765196|PMID:30521064|PMID:31101557|PMID:36113988|PMID:9536098
8767119	Msh2	mutS homolog 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:11208710|PMID:15520370|PMID:15849733|PMID:15872200|PMID:16574953|PMID:1710317|PMID:17531815|PMID:18033691|PMID:18383312|PMID:18822302|PMID:18951462|PMID:19389263|PMID:23047549|PMID:24033266|PMID:24728327|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26344056|PMID:26648449|PMID:26951660|PMID:27153395|PMID:27601186|PMID:28125075|PMID:28195393|PMID:28492532|PMID:28874130|PMID:29212164|PMID:29368341|PMID:29945567|PMID:30374176|PMID:30798936|PMID:31843900|PMID:9774676
8767119	Msh2	mutS homolog 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732745	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:11208710|PMID:15520370|PMID:15849733|PMID:15872200|PMID:16574953|PMID:1710317|PMID:17531815|PMID:18033691|PMID:18383312|PMID:18822302|PMID:18951462|PMID:19389263|PMID:23047549|PMID:24033266|PMID:24728327|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26344056|PMID:26648449|PMID:26951660|PMID:27153395|PMID:27601186|PMID:28125075|PMID:28195393|PMID:28492532|PMID:28874130|PMID:29212164|PMID:29368341|PMID:29945567|PMID:30374176|PMID:30798936|PMID:31391288|PMID:31843900|PMID:33357406|PMID:33393477|PMID:33471991|PMID:34117267|PMID:34906448|PMID:9774676
8767119	Msh2	mutS homolog 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:11208710|PMID:15520370|PMID:15849733|PMID:15872200|PMID:16574953|PMID:1710317|PMID:17531815|PMID:18033691|PMID:18383312|PMID:18822302|PMID:18951462|PMID:19389263|PMID:21520333|PMID:23047549|PMID:24033266|PMID:24728327|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26344056|PMID:26648449|PMID:26951660|PMID:27153395|PMID:27601186|PMID:28125075|PMID:28195393|PMID:28492532|PMID:28874130|PMID:29212164|PMID:29368341|PMID:29945567|PMID:30374176|PMID:30798936|PMID:31391288|PMID:31843900|PMID:33357406|PMID:33393477|PMID:33471991|PMID:34117267|PMID:34906448|PMID:9774676
8767119	Msh2	mutS homolog 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:11208710|PMID:15849733|PMID:1710317|PMID:17531815|PMID:18822302|PMID:18951462|PMID:21520333|PMID:25637381|PMID:25741868|PMID:26648449|PMID:26951660|PMID:28492532|PMID:30798936|PMID:31843900|PMID:33357406|PMID:33393477|PMID:33471991|PMID:33848333|PMID:34906448|PMID:9774676
8767119	Msh2	mutS homolog 2	gene	DOID:9460	uterine corpus cancer		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus cancer	
8767119	Msh2	mutS homolog 2	gene	DOID:9970	obesity		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:26467025|PMID:27363726|PMID:28492532|PMID:31391288|PMID:33357406|PMID:34326862
8767137	Rpl26	ribosomal protein L26	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8767137	Rpl26	ribosomal protein L26	gene	DOID:0111892	Diamond-Blackfan anemia 11		ISO	RGD:1321610	D	RGD:7240710	20180130	OMIM			
8767137	Rpl26	ribosomal protein L26	gene	DOID:0111892	Diamond-Blackfan anemia 11		ISO	RGD:1321610	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 11 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 11	PMID:25741868|PMID:28492532
8767137	Rpl26	ribosomal protein L26	gene	DOID:1115	sarcoma		ISO	RGD:1321610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8767137	Rpl26	ribosomal protein L26	gene	DOID:1324	lung cancer		ISO	RGD:1321610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
8767137	Rpl26	ribosomal protein L26	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:1321610	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8767137	Rpl26	ribosomal protein L26	gene	DOID:4362	cervical cancer		ISO	RGD:1321610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8767137	Rpl26	ribosomal protein L26	gene	DOID:5041	esophageal cancer		ISO	RGD:1321610	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8767137	Rpl26	ribosomal protein L26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767145	Gsn	gelsolin	gene	DOID:0050637	Finnish type amyloidosis		ISO	RGD:1346375	D	RGD:7240710	20180130	OMIM			
8767145	Gsn	gelsolin	gene	DOID:0050637	Finnish type amyloidosis		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AMYLOIDOSIS, FINNISH TYPE | ClinVar Annotator: match by term: Amyloidosis 5 | ClinVar Annotator: match by term: Finnish type amyloidosis | ClinVar Annotator: match by term: GSN-related condition	PMID:1338910|PMID:16199547|PMID:1652889|PMID:17576681|PMID:2176164|PMID:22622774|PMID:24601799|PMID:25342098|PMID:25741868|PMID:26915616|PMID:27633054|PMID:28492532|PMID:33499149|PMID:33973672|PMID:9536098
8767145	Gsn	gelsolin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8767145	Gsn	gelsolin	gene	DOID:0060224	atrial fibrillation	disease_progression	ISO	RGD:1550660	D	RGD:9068941	20230427	RGD			PMID:19669398|REF_RGD_ID:329333016
8767145	Gsn	gelsolin	gene	DOID:10534	stomach cancer		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8767145	Gsn	gelsolin	gene	DOID:10591	pre-eclampsia	disease_progression	ISO	RGD:1346375	D	RGD:9068941	20230427	RGD		protein:decreased expression:blood plasma (human)	PMID:24239294|REF_RGD_ID:329337339
8767145	Gsn	gelsolin	gene	DOID:1115	sarcoma		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8767145	Gsn	gelsolin	gene	DOID:11476	osteoporosis		ISO	RGD:1346375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
8767145	Gsn	gelsolin	gene	DOID:1459	hypothyroidism		ISO	RGD:1303089	D	RGD:9068941	20200609	RGD		Protein:increased expression:cochlea	PMID:2848627|REF_RGD_ID:1599872
8767145	Gsn	gelsolin	gene	DOID:3070	high grade glioma		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8767145	Gsn	gelsolin	gene	DOID:3275	thymoma		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8767145	Gsn	gelsolin	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1550660	D	RGD:9068941	20230427	RGD			PMID:18234195|REF_RGD_ID:329333031
8767145	Gsn	gelsolin	gene	DOID:3525	middle cerebral artery infarction	ameliorates	ISO	RGD:1550660	D	RGD:9068941	20230427	RGD			PMID:9927495|REF_RGD_ID:329333033
8767145	Gsn	gelsolin	gene	DOID:3526	cerebral infarction	severity	ISO	RGD:1346375	D	RGD:9068941	20230427	RGD		protein:decreased expression:blood plasma (human)	PMID:21481565|REF_RGD_ID:329337334
8767145	Gsn	gelsolin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8767145	Gsn	gelsolin	gene	DOID:5041	esophageal cancer		ISO	RGD:1346375	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8767145	Gsn	gelsolin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767145	Gsn	gelsolin	gene	DOID:5844	myocardial infarction		ISO	RGD:1346375	D	RGD:9068941	20230427	RGD		protein:decreased expression:blood serum (human)	PMID:9142022|REF_RGD_ID:329333022
8767145	Gsn	gelsolin	gene	DOID:5844	myocardial infarction	ameliorates	ISO	RGD:1303089	D	RGD:9068941	20230427	RGD			PMID:28622474|REF_RGD_ID:329333030
8767145	Gsn	gelsolin	gene	DOID:60001	pulmonary artery disease	severity	ISO	RGD:1550660	D	RGD:9068941	20230427	RGD		associated with ischemia	PMID:12654637|REF_RGD_ID:329333024
8767145	Gsn	gelsolin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8767145	Gsn	gelsolin	gene	DOID:630	genetic disease		ISO	RGD:1346375	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11754099|PMID:1311149|PMID:1315718|PMID:1322359|PMID:1322360|PMID:14640038|PMID:1652889|PMID:1658654|PMID:17576681|PMID:1848334|PMID:2153578|PMID:2175344|PMID:2176164|PMID:2176481|PMID:2176550|PMID:25601851|PMID:25741868|PMID:27982499|PMID:28166811|PMID:28492532|PMID:28924445|PMID:29167514|PMID:29637772|PMID:4543600|PMID:6610849|PMID:6975851|PMID:7550233|PMID:7868127|PMID:8388189|PMID:9536098
8767145	Gsn	gelsolin	gene	DOID:630	genetic disease		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:32368002
8767145	Gsn	gelsolin	gene	DOID:8481	rheumatic myocarditis		ISO	RGD:1346375	D	RGD:9068941	20230427	RGD		protein:decreased expression:blood plasma (human)	PMID:25403731|REF_RGD_ID:329333026
8767145	Gsn	gelsolin	gene	DOID:850	lung disease		ISO	RGD:1303089	D	RGD:9068941	20200609	RGD		Protein:increased expression:plasma	PMID:2829631|REF_RGD_ID:1599873
8767145	Gsn	gelsolin	gene	DOID:9000438	Subarachnoid Hemorrhage	disease_progression	ISO	RGD:1303089	D	RGD:9068941	20230427	RGD		mRNA, protein:altered expression:cerebral cortex (rat)	PMID:25744577|REF_RGD_ID:11055426
8767145	Gsn	gelsolin	gene	DOID:9000438	Subarachnoid Hemorrhage	severity	ISO	RGD:1346375	D	RGD:9068941	20230427	RGD		protein:decreased expression:blood plasma (human)	PMID:23880145|REF_RGD_ID:329333027
8767145	Gsn	gelsolin	gene	DOID:9000815	Aortic Calcification	disease_progression	ISO	RGD:1346375	D	RGD:9068941	20230427	RGD		protein:decreased expression:blood (human)	PMID:26941566|REF_RGD_ID:329336117
8767145	Gsn	gelsolin	gene	DOID:9000895	Preterm Intraventricular Hemorrhage		ISO	RGD:1550660	D	RGD:9068941	20230504	RGD		protein:decreased expression:blood plasma (human)	PMID:28755273|REF_RGD_ID:329337382
8767145	Gsn	gelsolin	gene	DOID:9000998	Brain Injuries		ISO	RGD:1303089	D	RGD:9068941	20200609	RGD			PMID:14588109|REF_RGD_ID:1599864
8767145	Gsn	gelsolin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1303089	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression	PMID:14574581|REF_RGD_ID:1599866
8767145	Gsn	gelsolin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1346375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8767145	Gsn	gelsolin	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1346375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
8767145	Gsn	gelsolin	gene	DOID:9002599	Basal Ganglia Hemorrhage	severity	ISO	RGD:1346375	D	RGD:9068941	20230427	RGD		protein:decreased expression:blood plasma (human)	PMID:23142649|REF_RGD_ID:329333032
8767145	Gsn	gelsolin	gene	DOID:9003121	Thromboembolism	ameliorates	ISO	RGD:1346375	D	RGD:9068941	20230427	RGD		human gene in mouse model	PMID:31002695|REF_RGD_ID:329333020
8767145	Gsn	gelsolin	gene	DOID:9003565	Paratuberculosis		ISO	RGD:1346375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22633222
8767145	Gsn	gelsolin	gene	DOID:9003566	Mesothelioma		ISO	RGD:1346375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15920167
8767145	Gsn	gelsolin	gene	DOID:9003646	Arterial Thrombosis	ameliorates	ISO	RGD:1346375	D	RGD:9068941	20230427	RGD		human gene in mouse model	PMID:31002695|REF_RGD_ID:329333020
8767145	Gsn	gelsolin	gene	DOID:9003676	Brain Hypoxia-Ischemia	severity	ISO	RGD:1346375	D	RGD:9068941	20230427	RGD		protein:decreased expression:blood plasma (human)	PMID:29466895|REF_RGD_ID:329333029
8767145	Gsn	gelsolin	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1346375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30240538
8767145	Gsn	gelsolin	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:1303089	D	RGD:9068941	20230427	RGD			PMID:30240538|REF_RGD_ID:329333015
8767145	Gsn	gelsolin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8767145	Gsn	gelsolin	gene	DOID:9004484	Sepsis		ISO	RGD:1346375	D	RGD:9068941	20230427	RGD		protein:decreased expression:blood serum (human)	PMID:9142022|REF_RGD_ID:329333022
8767145	Gsn	gelsolin	gene	DOID:9004492	Familial Amyloidosis		ISO	RGD:1346375	D	RGD:9068941	20200609	RGD		DNA:point mutation: ;654G>A	PMID:2175344|REF_RGD_ID:1599858
8767145	Gsn	gelsolin	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1346375	D	RGD:9068941	20230427	RGD		protein:decreased expression:blood serum (human)	PMID:9142022|REF_RGD_ID:329333022
8767145	Gsn	gelsolin	gene	DOID:9004657	Weight Gain		ISO	RGD:1346375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8767145	Gsn	gelsolin	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8767145	Gsn	gelsolin	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1303089	D	RGD:9068941	20200609	RGD		mRNA:decreased expression	PMID:8895730|REF_RGD_ID:1599869
8767145	Gsn	gelsolin	gene	DOID:9006646	Metabolic Syndrome	severity	ISO	RGD:1550660	D	RGD:9068941	20230427	RGD			PMID:29684438|REF_RGD_ID:329333017
8767145	Gsn	gelsolin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8767145	Gsn	gelsolin	gene	DOID:9007174	Ventricular Remodeling	ameliorates	ISO	RGD:1550660	D	RGD:9068941	20230427	RGD			PMID:19246681|REF_RGD_ID:329333014
8767145	Gsn	gelsolin	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1346375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16099942
8767145	Gsn	gelsolin	gene	DOID:9008652	Postoperative Atrial Fibrillation	susceptibility	ISO	RGD:1346375	D	RGD:9068941	20230504	RGD		DNA:SNP:: (rs2230287) (human)	PMID:27923400|REF_RGD_ID:329337380
8767145	Gsn	gelsolin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8767145	Gsn	gelsolin	gene	DOID:9159	gas gangrene		ISO	RGD:1346375	D	RGD:9068941	20230427	RGD		protein:decreased expression:blood serum (human)	PMID:9142022|REF_RGD_ID:329333022
8767145	Gsn	gelsolin	gene	DOID:9256	colorectal cancer		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8767225	Isoc2	isochorismatase domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8767225	Isoc2	isochorismatase domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8767225	Isoc2	isochorismatase domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8767225	Isoc2	isochorismatase domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8767225	Isoc2	isochorismatase domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8767225	Isoc2	isochorismatase domain containing 2	gene	DOID:3070	high grade glioma		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8767225	Isoc2	isochorismatase domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8767225	Isoc2	isochorismatase domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8767225	Isoc2	isochorismatase domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8767225	Isoc2	isochorismatase domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767225	Isoc2	isochorismatase domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8767225	Isoc2	isochorismatase domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8767225	Isoc2	isochorismatase domain containing 2	gene	DOID:8398	osteoarthritis		ISO	RGD:1350867	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8767225	Isoc2	isochorismatase domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8767239	Grem2	gremlin 2, DAN family BMP antagonist	gene	DOID:9008387	Selective Tooth Agenesis 9		ISO	RGD:1350364	D	RGD:7240710	20190315	OMIM			
8767239	Grem2	gremlin 2, DAN family BMP antagonist	gene	DOID:9008387	Selective Tooth Agenesis 9		ISO	RGD:1350364	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 9 | ClinVar Annotator: match by term: Tooth agenesis, selective, 9	PMID:25741868
8767245	Lbh	LBH regulator of WNT signaling pathway	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8767245	Lbh	LBH regulator of WNT signaling pathway	gene	DOID:3070	high grade glioma		ISO	RGD:1604281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8767245	Lbh	LBH regulator of WNT signaling pathway	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767245	Lbh	LBH regulator of WNT signaling pathway	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1604281	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8767252	Kcnc2	potassium voltage-gated channel subfamily C member 2	gene	DOID:0060848	developmental and epileptic encephalopathy 9		ISO	RGD:736950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9	PMID:25741868
8767252	Kcnc2	potassium voltage-gated channel subfamily C member 2	gene	DOID:0070389	developmental and epileptic encephalopathy 103		ISO	RGD:736950	D	RGD:7240710	20220629	OMIM			
8767252	Kcnc2	potassium voltage-gated channel subfamily C member 2	gene	DOID:0070389	developmental and epileptic encephalopathy 103		ISO	RGD:736950	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 103 | ClinVar Annotator: match by term: KCNC2-related condition | ClinVar Annotator: match by term: KCNC2-related disorder	PMID:25741868|PMID:28492532|PMID:29758562|PMID:32392612|PMID:34580403|PMID:35314505|PMID:36035247|PMID:36087422|PMID:37360341
8767252	Kcnc2	potassium voltage-gated channel subfamily C member 2	gene	DOID:0110653	long QT syndrome 12		ISO	RGD:736950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 12	PMID:25741868
8767252	Kcnc2	potassium voltage-gated channel subfamily C member 2	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:736950	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	
8767252	Kcnc2	potassium voltage-gated channel subfamily C member 2	gene	DOID:1115	sarcoma		ISO	RGD:736950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8767252	Kcnc2	potassium voltage-gated channel subfamily C member 2	gene	DOID:1826	epilepsy		ISO	RGD:736950	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: seizure	PMID:25741868
8767252	Kcnc2	potassium voltage-gated channel subfamily C member 2	gene	DOID:1826	epilepsy	susceptibility	ISO	RGD:736951	D	RGD:9068941	20200609	RGD			PMID:11124984|REF_RGD_ID:9831375
8767252	Kcnc2	potassium voltage-gated channel subfamily C member 2	gene	DOID:3068	glioblastoma		ISO	RGD:736950	D	RGD:9068941	20200609	RGD		mRNA:splice variant (human)	PMID:18474104|REF_RGD_ID:9686067
8767252	Kcnc2	potassium voltage-gated channel subfamily C member 2	gene	DOID:630	genetic disease		ISO	RGD:736950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8767252	Kcnc2	potassium voltage-gated channel subfamily C member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8767260	OPRD1	opioid receptor delta 1	gene	DOID:11206	opioid abuse	susceptibility	ISO	RGD:731961	D	RGD:9068941	20240307	RGD		mRNA:altered expression:testis, omentum (human)	PMID:37660978|REF_RGD_ID:402463943
8767260	Oprd1	opioid receptor delta 1	gene	DOID:0050741	alcohol dependence		ISO	RGD:731961	D	RGD:9068941	20240229	RGD		DNA:SNP,haplotype:intron 1 (rs2298896|rs421300), multiple GCAAT (human)	PMID:17622222|REF_RGD_ID:401976552
8767260	Oprd1	opioid receptor delta 1	gene	DOID:0060001	withdrawal disorder		ISO	RGD:731961	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2415332
8767260	Oprd1	opioid receptor delta 1	gene	DOID:0060001	withdrawal disorder		ISO	RGD:731961	D	RGD:9068941	20240229	RGD		DNA:SNP:CDS: rs569356 (human)	PMID:37146669|REF_RGD_ID:401976452
8767260	Oprd1	opioid receptor delta 1	gene	DOID:11206	opioid abuse		ISO	RGD:11036	D	RGD:9068941	20231111	RGD		mRNA:increased expression:ventral striatum	PMID:30059705|REF_RGD_ID:401900306
8767260	Oprd1	opioid receptor delta 1	gene	DOID:11206	opioid abuse	treatment	ISO	RGD:731961	D	RGD:9068941	20240229	RGD		DNA:SNP:CDS: rs569356|rs678849 (human)	PMID:37146669|REF_RGD_ID:401976452
8767260	Oprd1	opioid receptor delta 1	gene	DOID:11206	opioid abuse	treatment	ISO	RGD:731961	D	RGD:9068941	20240309	RGD		associated with females, buprenorphine;DNA:SNP:intron (rs581111|rs529520) (human)	PMID:24126707|REF_RGD_ID:402463962
8767260	Oprd1	opioid receptor delta 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:3233	D	RGD:9068941	20240222	RGD			PMID:7501658|REF_RGD_ID:401976439
8767260	Oprd1	opioid receptor delta 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:3233	D	RGD:9068941	20240222	RGD		associated with stress-related disorder; mRNA:decreased expression:dorsal striatum (rat)	PMID:28511993|REF_RGD_ID:401976432
8767260	Oprd1	opioid receptor delta 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:731961	D	RGD:9068941	20240314	RGD		DNA:SNPs, haplotype:intron 1:multiple (human)	PMID:24533225|REF_RGD_ID:402525443
8767260	Oprd1	opioid receptor delta 1	gene	DOID:1826	epilepsy		ISO	RGD:731961	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2415332
8767260	Oprd1	opioid receptor delta 1	gene	DOID:1909	melanoma		ISO	RGD:731961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8767260	Oprd1	opioid receptor delta 1	gene	DOID:2559	opiate dependence		ISO	RGD:731961	D	RGD:9068941	20240229	RGD		DNA:SNP, haplotype: (rs678849|rs2236857|rs2236855|rs760589) (human)	PMID:28632076|REF_RGD_ID:401976541
8767260	Oprd1	opioid receptor delta 1	gene	DOID:2559	opiate dependence		ISO	RGD:731961	D	RGD:9068941	20240229	RGD		DNA:SNP,haplotype:multiple (multiple)(human)	PMID:17622222|REF_RGD_ID:401976552
8767260	Oprd1	opioid receptor delta 1	gene	DOID:2559	opiate dependence		ISO	RGD:731961	D	RGD:9068941	20240307	RGD		DNA:SNP:intron (rs10753331, rs581111) (human)	PMID:22795689|REF_RGD_ID:401976559
8767260	Oprd1	opioid receptor delta 1	gene	DOID:2559	opiate dependence		ISO	RGD:731961	D	RGD:9068941	20240314	RGD		DNA:SNPs, haplotype:intron 1:multiple (human)	PMID:24533225|REF_RGD_ID:402525443
8767260	Oprd1	opioid receptor delta 1	gene	DOID:2559	opiate dependence	susceptibility	ISO	RGD:731961	D	RGD:9068941	20231021	RGD		DNA:SNP: :rs1042114 (human)	PMID:28656735|REF_RGD_ID:401850580
8767260	Oprd1	opioid receptor delta 1	gene	DOID:2559	opiate dependence	susceptibility	ISO	RGD:731961	D	RGD:9068941	20231207	RGD		DNA:SNP: :rs2236861(human)	PMID:24086514|REF_RGD_ID:401901242
8767260	Oprd1	opioid receptor delta 1	gene	DOID:2559	opiate dependence	treatment	ISO	RGD:731961	D	RGD:9068941	20240307	RGD		associated with methadone treatment;DNA:SNP:intron (rs204076) (human)	PMID:37531661|REF_RGD_ID:401977581
8767260	Oprd1	opioid receptor delta 1	gene	DOID:2559	opiate dependence	treatment	ISO	RGD:731961	D	RGD:9068941	20240314	RGD		associated with African American;DNA:SNP:intron (rs678849) (human)	PMID:23612435|REF_RGD_ID:402463973
8767260	Oprd1	opioid receptor delta 1	gene	DOID:2559	opiate dependence	treatment	ISO	RGD:731961	D	RGD:9068941	20240314	RGD		associated with neonatal abstinence syndrome in offspring;DNA:SNP:intron (rs204076) (human)	PMID:26233486|REF_RGD_ID:11079504
8767260	Oprd1	opioid receptor delta 1	gene	DOID:303	substance-related disorder		ISO	RGD:731961	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17622222|PMID:20098672
8767260	Oprd1	opioid receptor delta 1	gene	DOID:5844	myocardial infarction		ISO	RGD:3233	D	RGD:9068941	20200609	RGD			PMID:12798419|PMID:15076225|REF_RGD_ID:2316587|REF_RGD_ID:9831425
8767260	Oprd1	opioid receptor delta 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:3233	D	RGD:9068941	20200609	RGD			PMID:10900218|REF_RGD_ID:2316592
8767260	Oprd1	opioid receptor delta 1	gene	DOID:9000641	Pain		ISO	RGD:3233	D	RGD:9068941	20200609	RGD			PMID:12710986|REF_RGD_ID:2316589
8767260	Oprd1	opioid receptor delta 1	gene	DOID:9001131	stress-related disorder		ISO	RGD:3233	D	RGD:9068941	20240222	RGD		mRNA:increased expression:dorsal striatum (rat)	PMID:28511993|REF_RGD_ID:401976432
8767260	Oprd1	opioid receptor delta 1	gene	DOID:9001131	stress-related disorder		ISO	RGD:731961	D	RGD:9068941	20240307	RGD		associated with heroin dependence;DNA:SNP:intron (rs2236857) (human)	PMID:30171993|REF_RGD_ID:401977579
8767260	Oprd1	opioid receptor delta 1	gene	DOID:9002395	Hypothermia		ISO	RGD:3233	D	RGD:9068941	20231130	RGD		mRNA:increased expression:hypothalamus	PMID:21377399|REF_RGD_ID:401901086
8767260	Oprd1	opioid receptor delta 1	gene	DOID:9002916	Hyperphagia		ISO	RGD:3233	D	RGD:9068941	20200609	RGD			PMID:9808678|REF_RGD_ID:9831410
8767260	Oprd1	opioid receptor delta 1	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:3233	D	RGD:9068941	20240404	RGD			PMID:12814374|REF_RGD_ID:405101374
8767260	Oprd1	opioid receptor delta 1	gene	DOID:9005950	Orthostatic Hypotension		ISO	RGD:731961	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2981652
8767260	Oprd1	opioid receptor delta 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:3233	D	RGD:9068941	20200609	RGD			PMID:12136724|REF_RGD_ID:2316590
8767260	Oprd1	opioid receptor delta 1	gene	DOID:9975	cocaine dependence		ISO	RGD:731961	D	RGD:9068941	20240229	RGD		DNA:SNP,haplotype:intron 1 (rs2298896|rs421300), multiple GCAAT (human)	PMID:17622222|REF_RGD_ID:401976552
8767260	Oprd1	opioid receptor delta 1	gene	DOID:9975	cocaine dependence		ISO	RGD:731961	D	RGD:9068941	20240307	RGD		DNA:SNP:intron,cds (rs678849,rs2234918) (human)	PMID:22795689|REF_RGD_ID:401976559
8767260	Oprd1	opioid receptor delta 1	gene	DOID:9975	cocaine dependence		ISO	RGD:731961	D	RGD:9068941	20240314	RGD		DNA:SNPs, haplotype:intron 1 (rs2298896|rs421300) (human)	PMID:24533225|REF_RGD_ID:402525443
8767260	Oprd1	opioid receptor delta 1	gene	DOID:9975	cocaine dependence	susceptibility	ISO	RGD:731961	D	RGD:9068941	20240309	RGD		associated with alcohol use disorder; DNA:SNP:intron (rs678849) (human)	PMID:27449273|REF_RGD_ID:402463960
8767260	Oprd1	opioid receptor delta 1	gene	DOID:9975	cocaine dependence	treatment	ISO	RGD:731961	D	RGD:9068941	20240307	RGD		associated with opiate dependence;DNA:SNP:intron (rs678849) (human)	PMID:33953123|REF_RGD_ID:402463937
8767260	Oprd1	opioid receptor delta 1	gene	DOID:9976	heroin dependence		ISO	RGD:731961	D	RGD:9068941	20240229	RGD		DNA:SNP, haplotype:intron 1 (multiple) (human)	PMID:22500942|REF_RGD_ID:401976535
8767260	Oprd1	opioid receptor delta 1	gene	DOID:9976	heroin dependence		ISO	RGD:731961	D	RGD:9068941	20240229	RGD		DNA:SNP, haplotype:multiple (multiple) (human)	PMID:34031368|REF_RGD_ID:401976533
8767260	Oprd1	opioid receptor delta 1	gene	DOID:9976	heroin dependence		ISO	RGD:731961	D	RGD:9068941	20240307	RGD		associated with stress-related disorder;DNA:SNP:coding synonymous,intron (rs2234918, rs2236857) (human)	PMID:30171993|REF_RGD_ID:401977579
8767260	Oprd1	opioid receptor delta 1	gene	DOID:9976	heroin dependence	onset	ISO	RGD:731961	D	RGD:9068941	20231012	RGD		DNA:SNP: :rs508448 (human)	PMID:28692418|REF_RGD_ID:401831045
8767260	Oprd1	opioid receptor delta 1	gene	DOID:9976	heroin dependence	treatment	ISO	RGD:731961	D	RGD:9068941	20240224	RGD		DNA:SNP:CDS:intron 1 (rs204047|rs797397) (human)	PMID:31907389|REF_RGD_ID:401976443
8767260	Oprd1	opioid receptor delta 1	gene	DOID:9976	heroin dependence	treatment	ISO	RGD:731961	D	RGD:9068941	20240302	RGD		associated with methadone treatment;DNA:SNP:intron (rs529520) (human)	PMID:29173032|REF_RGD_ID:401976557
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1313857	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:1059	intellectual disability		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:10754	otitis media		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25741868
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:1240	leukemia		ISO	RGD:1313857	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:28436985
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:12849	autistic disorder		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:1324	lung cancer		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:1826	epilepsy		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:1909	melanoma		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:480	movement disease		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1313857	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:543	dystonia		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:630	genetic disease		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:674	cleft palate		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:9001722	Dysarthria		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: SYNCRIP-related condition | ClinVar Annotator: match by term: SYNCRIP-related neurodevelopmental disorder	PMID:25741868|PMID:33874999|PMID:34157790
8767267	Syncrip	synaptotagmin binding cytoplasmic RNA interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:10485	esophageal atresia		ISO	RGD:732493	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:732493	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:10534	stomach cancer		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:1059	intellectual disability		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28191889
8767305	Dscam	DS cell adhesion molecule	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:1115	sarcoma		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:12849	autistic disorder		ISO	RGD:732493	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25418537|PMID:25741868|PMID:28191889|PMID:28600779|PMID:30564305|PMID:34253863
8767305	Dscam	DS cell adhesion molecule	gene	DOID:1324	lung cancer		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:1909	melanoma		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:28191889
8767305	Dscam	DS cell adhesion molecule	gene	DOID:2468	psychotic disorder		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:2841	asthma		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:303	substance-related disorder		ISO	RGD:732493	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8767305	Dscam	DS cell adhesion molecule	gene	DOID:3138	acanthosis nigricans		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	PMID:28191889
8767305	Dscam	DS cell adhesion molecule	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:4362	cervical cancer		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:4428	dyslexia		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:732493	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:630	genetic disease		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28191889
8767305	Dscam	DS cell adhesion molecule	gene	DOID:6364	migraine		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:6543	acne		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acne	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:9000053	Headache		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:9001224	Striae Distensae		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:9001581	Constipation		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:9003133	Hypertelorism		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:9003816	Macrocephaly		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:732493	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
8767305	Dscam	DS cell adhesion molecule	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:9004956	Nocturnal Enuresis		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nocturnal enuresis	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:9005369	Hepatomegaly		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:28191889
8767305	Dscam	DS cell adhesion molecule	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28191889
8767305	Dscam	DS cell adhesion molecule	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8767305	Dscam	DS cell adhesion molecule	gene	DOID:9452	steatotic liver disease		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:28191889
8767305	Dscam	DS cell adhesion molecule	gene	DOID:9970	obesity		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28191889
8767373	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8767373	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8767373	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:0060463	NUT midline carcinoma		ISO	RGD:1319069	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Nut midline carcinoma	PMID:25741868
8767373	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8767373	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8767373	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:1909	melanoma		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8767373	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:3275	thymoma		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8767373	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8767373	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8767373	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8767373	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1319069	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8767373	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8767373	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767373	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8767373	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:8692	myeloid leukemia		ISO	RGD:1319069	D	RGD:9068941	20200609	RGD			PMID:11986249|REF_RGD_ID:1599847
8767373	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8767373	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8767373	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8767407	Ccl14	C-C motif chemokine ligand 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604060	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8767414	Mthfsd	methenyltetrahydrofolate synthetase domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8767414	Mthfsd	methenyltetrahydrofolate synthetase domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:1604316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8767414	Mthfsd	methenyltetrahydrofolate synthetase domain containing	gene	DOID:3275	thymoma		ISO	RGD:1604316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8767414	Mthfsd	methenyltetrahydrofolate synthetase domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1604316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8767414	Mthfsd	methenyltetrahydrofolate synthetase domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767414	Mthfsd	methenyltetrahydrofolate synthetase domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8767414	Mthfsd	methenyltetrahydrofolate synthetase domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8767456	Ric8b	RIC8 guanine nucleotide exchange factor B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8767456	Ric8b	RIC8 guanine nucleotide exchange factor B	gene	DOID:10534	stomach cancer		ISO	RGD:1605657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8767456	Ric8b	RIC8 guanine nucleotide exchange factor B	gene	DOID:4362	cervical cancer		ISO	RGD:1605657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8767456	Ric8b	RIC8 guanine nucleotide exchange factor B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8767456	Ric8b	RIC8 guanine nucleotide exchange factor B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:0090139	cortisone reductase deficiency		ISO	RGD:737091	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25526675
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:0090139	cortisone reductase deficiency		ISO	RGD:737091	D	RGD:9068941	20200609	RGD		DNA:insertion,transversion:intron:86557insA, 83597T>G (human)	PMID:12858176|REF_RGD_ID:1625067
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:0090140	cortisone reductase deficiency 2		ISO	RGD:737091	D	RGD:7240710	20180130	OMIM			
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:10591	pre-eclampsia	susceptibility	ISO	RGD:737091	D	RGD:9068941	20230629	RGD		DNA:SNPs,haplotype: (rs2235543,rs846910) (human)	PMID:23659736|REF_RGD_ID:329901926
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:10763	hypertension		ISO	RGD:737091	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15199296|PMID:21786805|PMID:9683905
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:737091	D	RGD:9068941	20230629	RGD		DNA:SNP:5'utr: (rs846910) (human)	PMID:15452033|REF_RGD_ID:329902060
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:10825	essential hypertension	susceptibility	ISO	RGD:737091	D	RGD:9068941	20230629	RGD		DNA:SNP:insertion: ins4436A (rs45487298) (human)	PMID:26671915|REF_RGD_ID:11353457
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:2834	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:islet cells:diabetic but not prediabetic Zucker Diabetic Fatty (fa/fa) rats	PMID:14697232|REF_RGD_ID:1625074
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:1824	status epilepticus		ISO	RGD:2834	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus	PMID:22050960|REF_RGD_ID:5686281
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:737091	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:3393	coronary artery disease	sexual_dimorphism	ISO	RGD:737091	D	RGD:9068941	20230629	RGD		associated with obesity;mRNA,protein:increased expression:multiple (human)	PMID:23009206|REF_RGD_ID:329901914
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:4195	hyperglycemia		ISO	RGD:737091	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14697232
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:5844	myocardial infarction		ISO	RGD:10734	D	RGD:9068941	20230629	RGD			PMID:28522730|REF_RGD_ID:329902054
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:5844	myocardial infarction	ameliorates	ISO	RGD:10734	D	RGD:9068941	20230629	RGD			PMID:26465199|REF_RGD_ID:11087531
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:737091	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19192274
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:9002165	Diabetic Nephropathies	susceptibility	ISO	RGD:737091	D	RGD:9068941	20230629	RGD		DNA:SNO:intron: (rs17389016, rs11799643) (human)	PMID:32453474|REF_RGD_ID:329902062
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:9004616	Left Ventricular Hypertrophy	susceptibility	ISO	RGD:737091	D	RGD:9068941	20230629	RGD		DNA:SNP:5'utr: (rs846910) (human)	PMID:21402901|REF_RGD_ID:329901915
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:737091	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14697232
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:2834	D	RGD:9068941	20200609	RGD			PMID:14697232|REF_RGD_ID:1625074
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:9006646	Metabolic Syndrome	disease_progression	ISO	RGD:737091	D	RGD:9068941	20230629	RGD		mRNA:increased expression:ascending aorta,epicardial fat (human)	PMID:23007990|REF_RGD_ID:329901930
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:9006646	Metabolic Syndrome	susceptibility	ISO	RGD:737091	D	RGD:9068941	20230629	RGD		DNA:SNP: (rs12086634)T>G (human)	PMID:23869418|REF_RGD_ID:329901929
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:9006646	Metabolic Syndrome	susceptibility	ISO	RGD:737091	D	RGD:9068941	20230629	RGD		DNA:SNP:: (rs846910) (human)	PMID:28750217|REF_RGD_ID:329901909
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:9006646	Metabolic Syndrome	susceptibility	ISO	RGD:737091	D	RGD:9068941	20230629	RGD		DNA:SNPs:5'utr,enhancer: (rs846910,rs12086634) (human)	PMID:21622477|REF_RGD_ID:329901919
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:737091	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21786805
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:9007772	Abdominal Obesity		ISO	RGD:737091	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15199296
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2834	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:islet cells:diabetic but not prediabetic Zucker Diabetic Fatty (fa/fa) rats	PMID:14697232|REF_RGD_ID:1625074
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:737091	D	RGD:9068941	20230629	RGD		DNA:SNPs:intron: (rs12086634,rs846910) (human)	PMID:28750217|REF_RGD_ID:329901909
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:9970	obesity		ISO	RGD:10734	D	RGD:9068941	20200609	RGD			PMID:16612591|REF_RGD_ID:1625072
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:9970	obesity		ISO	RGD:2834	D	RGD:9068941	20200609	RGD			PMID:15131764|REF_RGD_ID:1625073
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:9970	obesity		ISO	RGD:737091	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17628001|PMID:21786805
8767484	Hsd11b1	hydroxysteroid 11-beta dehydrogenase 1	gene	DOID:9970	obesity		ISO	RGD:737091	D	RGD:9068941	20200609	RGD		mRNA:increased expression:adipose tissue:13-fold higher in obese subjects than controls, protein expression also increased	PMID:16914598|REF_RGD_ID:1625071
8767494	Dema1	DPM1 ER membrane anchor 1	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1615887	D	RGD:9068941	20220825	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
8767504	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8767504	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:0061057	immunodeficiency 87		ISO	RGD:1317434	D	RGD:7240710	20211110	OMIM			
8767504	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:0061057	immunodeficiency 87		ISO	RGD:1317434	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEF6-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY | ClinVar Annotator: match by term: Immunodeficiency 87 and autoimmunity	PMID:25741868|PMID:28492532|PMID:31308374
8767504	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:11162	respiratory failure		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532
8767504	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:11830	myopia		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8767504	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:1596	depressive disorder		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
8767504	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:1909	melanoma		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8767504	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:2030	anxiety disorder		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8767504	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:2841	asthma		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
8767504	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:4362	cervical cancer		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8767504	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8767504	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8767504	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8767504	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8767504	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1317434	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26808113
8767504	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1317435	D	RGD:9068941	20220825	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
8767519	Tcf3	transcription factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8767519	Tcf3	transcription factor 3	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1351290	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19246562
8767519	Tcf3	transcription factor 3	gene	DOID:0081140	agammaglobulinemia 8A		ISO	RGD:1351290	D	RGD:7240710	20220831	OMIM			
8767519	Tcf3	transcription factor 3	gene	DOID:0081140	agammaglobulinemia 8A		ISO	RGD:1351290	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA 8A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant	PMID:24216514|PMID:25741868|PMID:28492532|PMID:33905048|PMID:37277074
8767519	Tcf3	transcription factor 3	gene	DOID:0081143	agammaglobulinemia 8B		ISO	RGD:1351290	D	RGD:7240710	20220831	OMIM			
8767519	Tcf3	transcription factor 3	gene	DOID:0081143	agammaglobulinemia 8B		ISO	RGD:1351290	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO TCF3 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 8b, autosomal recessive	PMID:25741868|PMID:28492532
8767519	Tcf3	transcription factor 3	gene	DOID:0111152	multicentric Castleman disease		ISO	RGD:1351290	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: TAFRO syndrome	
8767519	Tcf3	transcription factor 3	gene	DOID:10283	prostate cancer	severity	ISO	RGD:1351290	D	RGD:9068941	20200609	RGD			PMID:22564737|REF_RGD_ID:13506819
8767519	Tcf3	transcription factor 3	gene	DOID:1115	sarcoma		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8767519	Tcf3	transcription factor 3	gene	DOID:1324	lung cancer		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8767519	Tcf3	transcription factor 3	gene	DOID:1909	melanoma		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:17576681|PMID:28492532|PMID:9536098
8767519	Tcf3	transcription factor 3	gene	DOID:2226	myeloproliferative neoplasm		ISO	RGD:1351290	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable	PMID:25741868|PMID:28492532|PMID:35101336
8767519	Tcf3	transcription factor 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8767519	Tcf3	transcription factor 3	gene	DOID:2583	agammaglobulinemia		ISO	RGD:1351290	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8767519	Tcf3	transcription factor 3	gene	DOID:3275	thymoma		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8767519	Tcf3	transcription factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767519	Tcf3	transcription factor 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
8767519	Tcf3	transcription factor 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8767519	Tcf3	transcription factor 3	gene	DOID:630	genetic disease		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8767519	Tcf3	transcription factor 3	gene	DOID:8584	Burkitt lymphoma		ISO	RGD:1351290	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17244677|PMID:1967982
8767519	Tcf3	transcription factor 3	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:1351290	D	RGD:9068941	20200609	RGD		associated with colon cancer	PMID:26212009|REF_RGD_ID:11533019
8767519	Tcf3	transcription factor 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8767519	Tcf3	transcription factor 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8767519	Tcf3	transcription factor 3	gene	DOID:9006418	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia	PMID:25741868
8767519	Tcf3	transcription factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8767519	Tcf3	transcription factor 3	gene	DOID:9008152	Agammaglobulinemia 8		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: TCF3-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:35982159|PMID:9536098
8767519	Tcf3	transcription factor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8767519	Tcf3	transcription factor 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8767519	Tcf3	transcription factor 3	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1351290	D	RGD:9068941	20200609	RGD			PMID:24454819|REF_RGD_ID:13432063
8767519	Tcf3	transcription factor 3	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1351290	D	RGD:9068941	20200609	RGD		DNA, mRNA:hypomethylation, increased expression	PMID:25375219|REF_RGD_ID:13432058
8767519	Tcf3	transcription factor 3	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1351290	D	RGD:9068941	20200609	RGD		DNA:SNP:3' utr:rs1052918 (human)	PMID:23940558|REF_RGD_ID:13432062
8767519	Tcf3	transcription factor 3	gene	DOID:9538	multiple myeloma		ISO	RGD:1351290	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
8767519	Tcf3	transcription factor 3	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1351290	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26214592
8767552	Dis3l	DIS3 like exosome 3'-5' exoribonuclease	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8767552	Dis3l	DIS3 like exosome 3'-5' exoribonuclease	gene	DOID:10283	prostate cancer		ISO	RGD:1606984	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8767552	Dis3l	DIS3 like exosome 3'-5' exoribonuclease	gene	DOID:10283	prostate cancer		ISO	RGD:1606984	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8767552	Dis3l	DIS3 like exosome 3'-5' exoribonuclease	gene	DOID:10534	stomach cancer		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8767552	Dis3l	DIS3 like exosome 3'-5' exoribonuclease	gene	DOID:1324	lung cancer		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8767552	Dis3l	DIS3 like exosome 3'-5' exoribonuclease	gene	DOID:1909	melanoma		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8767552	Dis3l	DIS3 like exosome 3'-5' exoribonuclease	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8767552	Dis3l	DIS3 like exosome 3'-5' exoribonuclease	gene	DOID:3275	thymoma		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8767552	Dis3l	DIS3 like exosome 3'-5' exoribonuclease	gene	DOID:4362	cervical cancer		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8767552	Dis3l	DIS3 like exosome 3'-5' exoribonuclease	gene	DOID:5041	esophageal cancer		ISO	RGD:1606984	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8767552	Dis3l	DIS3 like exosome 3'-5' exoribonuclease	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8767552	Dis3l	DIS3 like exosome 3'-5' exoribonuclease	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767552	Dis3l	DIS3 like exosome 3'-5' exoribonuclease	gene	DOID:6039	uveal melanoma		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8767552	Dis3l	DIS3 like exosome 3'-5' exoribonuclease	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8767552	Dis3l	DIS3 like exosome 3'-5' exoribonuclease	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8767572	Vwa5b2	von Willebrand factor A domain containing 5B2	gene	DOID:10534	stomach cancer		ISO	RGD:2300034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8767572	Vwa5b2	von Willebrand factor A domain containing 5B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2300034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767572	Vwa5b2	von Willebrand factor A domain containing 5B2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:2300034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8767572	Vwa5b2	von Willebrand factor A domain containing 5B2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2300034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8767572	Vwa5b2	von Willebrand factor A domain containing 5B2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2300034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8767594	Sqstm1	sequestosome 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8767594	Sqstm1	sequestosome 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8767594	Sqstm1	sequestosome 1	gene	DOID:0060213	C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis		ISO	RGD:736484	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	PMID:11992264|PMID:12374763|PMID:14584883|PMID:15125799|PMID:15146436|PMID:15176995|PMID:15493999|PMID:15765181|PMID:16199547|PMID:16691492|PMID:16813535|PMID:17120186|PMID:17129171|PMID:17188686|PMID:17229007|PMID:17229008|PMID:17576681|PMID:19049332|PMID:19257822|PMID:20200946|PMID:20499339|PMID:21073987|PMID:22084127|PMID:22491873|PMID:22972638|PMID:23117207|PMID:23417734|PMID:23447461|PMID:23612225|PMID:23812289|PMID:23820649|PMID:23942205|PMID:24042580|PMID:24138988|PMID:24486447|PMID:24642144|PMID:24899140|PMID:25382069|PMID:25433461|PMID:25512523|PMID:25664955|PMID:25708934|PMID:25741868|PMID:25796131|PMID:26242991|PMID:26467025|PMID:26601740|PMID:26836416|PMID:27156075|PMID:27158844|PMID:27163810|PMID:27275741|PMID:27545679|PMID:27554286|PMID:27594680|PMID:27631370|PMID:28003435|PMID:28430856|PMID:28490746|PMID:28492532|PMID:28642336|PMID:29411640|PMID:29525180|PMID:29895397|PMID:29959261|PMID:30120248|PMID:30638816|PMID:30842500|PMID:31108397|PMID:31116477|PMID:31362587|PMID:31434890|PMID:31445297|PMID:31859009|PMID:31996268|PMID:32028661|PMID:32036052|PMID:32385536|PMID:32397312|PMID:32409511|PMID:32579787|PMID:32843152|PMID:33125541|PMID:33601107|PMID:33973882|PMID:34009082|PMID:34020145|PMID:34275688|PMID:34307757|PMID:34929165|PMID:35896380|PMID:35964197|PMID:36515702|PMID:36549973|PMID:37205252|PMID:37952009|PMID:39044379|PMID:39122262|PMID:9536098
8767594	Sqstm1	sequestosome 1	gene	DOID:0060249	scoliosis		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:24042580|PMID:24899140|PMID:25741868|PMID:28492532|PMID:31859009
8767594	Sqstm1	sequestosome 1	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:736484	D	RGD:9068941	20240829	RGD		protein:increased expression:liver	PMID:31090940|REF_RGD_ID:407445926
8767594	Sqstm1	sequestosome 1	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:736485	D	RGD:9068941	20240829	RGD		protein:increased expression:liver	PMID:31090940|REF_RGD_ID:407445926
8767594	Sqstm1	sequestosome 1	gene	DOID:0080718	GNE myopathy		ISO	RGD:736484	D	RGD:9068941	20230608	CTD		CTD Direct Evidence: marker/mechanism	
8767594	Sqstm1	sequestosome 1	gene	DOID:0081363	distal myopathy with rimmed vacuoles		ISO	RGD:736484	D	RGD:7240710	20230607	OMIM			
8767594	Sqstm1	sequestosome 1	gene	DOID:0081363	distal myopathy with rimmed vacuoles		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy, distal, with rimmed vacuoles	PMID:21073987|PMID:25433461|PMID:25741868|PMID:25796131|PMID:26467025|PMID:27275741|PMID:28492532
8767594	Sqstm1	sequestosome 1	gene	DOID:0081364	neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset		ISO	RGD:736484	D	RGD:7240710	20190315	OMIM			
8767594	Sqstm1	sequestosome 1	gene	DOID:0081364	neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset		ISO	RGD:736484	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET | ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	PMID:21073987|PMID:25433461|PMID:25741868|PMID:25796131|PMID:26467025|PMID:27275741|PMID:27545679|PMID:28492532|PMID:29959261
8767594	Sqstm1	sequestosome 1	gene	DOID:0081365	Paget disease of bone 2		ISO	RGD:736484	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Paget disease of bone 2 | ClinVar Annotator: match by term: Paget disease of bone 2, early-onset	PMID:11992264|PMID:14584883|PMID:15125799|PMID:15146436|PMID:15176995|PMID:15493999|PMID:15765181|PMID:16691492|PMID:17120186|PMID:17129171|PMID:17188686|PMID:17229007|PMID:17229008|PMID:17576681|PMID:19049332|PMID:20200946|PMID:21073987|PMID:22084127|PMID:22491873|PMID:22972638|PMID:23417734|PMID:23447461|PMID:23612225|PMID:23812289|PMID:23820649|PMID:23942205|PMID:24042580|PMID:24486447|PMID:24642144|PMID:24899140|PMID:25382069|PMID:25433461|PMID:25512523|PMID:25741868|PMID:25796131|PMID:26242991|PMID:26467025|PMID:26836416|PMID:27156075|PMID:27158844|PMID:27163810|PMID:27275741|PMID:27545679|PMID:27594680|PMID:28003435|PMID:28430856|PMID:28492532|PMID:29525180|PMID:29895397|PMID:29959261|PMID:30842500|PMID:31108397|PMID:31116477|PMID:31445297|PMID:31859009|PMID:31996268|PMID:32036052|PMID:32385536|PMID:32397312|PMID:32409511|PMID:32843152|PMID:33601107|PMID:33973882|PMID:34275688|PMID:34307757|PMID:35896380|PMID:35964197|PMID:36515702|PMID:39122262|PMID:9536098
8767594	Sqstm1	sequestosome 1	gene	DOID:0081366	Paget disease of bone 3		ISO	RGD:736484	D	RGD:7240710	20190327	OMIM			
8767594	Sqstm1	sequestosome 1	gene	DOID:0081366	Paget disease of bone 3		ISO	RGD:736484	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PAGET DISEASE OF BONE 3 | ClinVar Annotator: match by term: Paget disease of bone 3	PMID:11992264|PMID:12374763|PMID:16199547|PMID:17129171|PMID:17188686|PMID:21073987|PMID:22084127|PMID:22972638|PMID:23417734|PMID:23447461|PMID:23612225|PMID:23820649|PMID:23942205|PMID:24042580|PMID:24486447|PMID:24899140|PMID:25382069|PMID:25433461|PMID:25512523|PMID:25741868|PMID:25796131|PMID:26208961|PMID:26242991|PMID:26467025|PMID:26836416|PMID:27156075|PMID:27163810|PMID:27275741|PMID:27594680|PMID:28430856|PMID:28492532|PMID:31108397|PMID:31116477|PMID:31445297|PMID:31859009|PMID:32036052|PMID:32385536|PMID:32409511|PMID:32843152|PMID:33601107|PMID:36515702|PMID:39122262
8767594	Sqstm1	sequestosome 1	gene	DOID:0110068	frontotemporal dementia and/or amyotrophic lateral sclerosis 3		ISO	RGD:736484	D	RGD:7240710	20180130	OMIM			
8767594	Sqstm1	sequestosome 1	gene	DOID:0110068	frontotemporal dementia and/or amyotrophic lateral sclerosis 3		ISO	RGD:736484	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FTDALS3 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	PMID:14584883|PMID:16691492|PMID:17188686|PMID:17229008|PMID:20200946|PMID:21073987|PMID:22084127|PMID:22972638|PMID:23417734|PMID:23612225|PMID:23942205|PMID:24042580|PMID:24486447|PMID:24899140|PMID:25382069|PMID:25433461|PMID:25512523|PMID:25741868|PMID:25796131|PMID:26467025|PMID:27156075|PMID:27275741|PMID:28003435|PMID:28492532|PMID:29525180|PMID:29895397|PMID:30842500|PMID:31108397|PMID:31116477|PMID:31859009|PMID:32036052|PMID:32409511|PMID:32843152|PMID:36515702
8767594	Sqstm1	sequestosome 1	gene	DOID:10534	stomach cancer		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8767594	Sqstm1	sequestosome 1	gene	DOID:1059	intellectual disability		ISO	RGD:736484	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26467025|PMID:27545679|PMID:28492532
8767594	Sqstm1	sequestosome 1	gene	DOID:10603	glucose intolerance		ISO	RGD:736484	D	RGD:9068941	20240404	CTD		CTD Direct Evidence: therapeutic	PMID:33933676
8767594	Sqstm1	sequestosome 1	gene	DOID:10763	hypertension		ISO	RGD:69287	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:23499735|REF_RGD_ID:11561939
8767594	Sqstm1	sequestosome 1	gene	DOID:12351	alcoholic hepatitis		ISO	RGD:736485	D	RGD:9068941	20240829	RGD		protein:increased expression:liver	PMID:31090940|REF_RGD_ID:407445926
8767594	Sqstm1	sequestosome 1	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:736485	D	RGD:9068941	20240912	RGD			PMID:36308627|REF_RGD_ID:407532639
8767594	Sqstm1	sequestosome 1	gene	DOID:1324	lung cancer		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8767594	Sqstm1	sequestosome 1	gene	DOID:1389	polyneuropathy		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868
8767594	Sqstm1	sequestosome 1	gene	DOID:1686	glaucoma		ISO	RGD:69287	D	RGD:9068941	20200609	RGD		protein:increased expression:optic nerve	PMID:24136224|REF_RGD_ID:13782046
8767594	Sqstm1	sequestosome 1	gene	DOID:1891	optic nerve disease		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	
8767594	Sqstm1	sequestosome 1	gene	DOID:1909	melanoma		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
8767594	Sqstm1	sequestosome 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:736484	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:19765191
8767594	Sqstm1	sequestosome 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:736485	D	RGD:9068941	20260709	RGD		mRNA:increased expression:spinal cord	PMID:23851366|REF_RGD_ID:11561951
8767594	Sqstm1	sequestosome 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8767594	Sqstm1	sequestosome 1	gene	DOID:4362	cervical cancer		ISO	RGD:736484	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:22084127|PMID:24042580|PMID:24486447|PMID:24899140|PMID:25741868|PMID:26467025|PMID:27156075|PMID:28492532|PMID:31108397|PMID:32409511|PMID:32843152
8767594	Sqstm1	sequestosome 1	gene	DOID:4448	macular degeneration		ISO	RGD:736484	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23922739
8767594	Sqstm1	sequestosome 1	gene	DOID:480	movement disease		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:24042580|PMID:24899140|PMID:25741868|PMID:28492532|PMID:31859009
8767594	Sqstm1	sequestosome 1	gene	DOID:5408	Paget disease of bone		ISO	RGD:736484	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	
8767594	Sqstm1	sequestosome 1	gene	DOID:5408	Paget disease of bone		ISO	RGD:736484	D	RGD:9068941	20260709	RGD		DNA:point mutation: :p.P392L (human)	PMID:11992264|REF_RGD_ID:1599121
8767594	Sqstm1	sequestosome 1	gene	DOID:5408	Paget disease of bone		ISO	RGD:736485	D	RGD:9068941	20260709	MouseDO		OMIM:167250 | OMIM:602080 | OMIM:606263	
8767594	Sqstm1	sequestosome 1	gene	DOID:543	dystonia		ISO	RGD:736484	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:24042580|PMID:24899140|PMID:25741868|PMID:26467025|PMID:27545679|PMID:28492532|PMID:31859009
8767594	Sqstm1	sequestosome 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767594	Sqstm1	sequestosome 1	gene	DOID:630	genetic disease		ISO	RGD:736484	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17188686|PMID:22084127|PMID:23812289|PMID:24042580|PMID:24486447|PMID:24899140|PMID:25741868|PMID:26467025|PMID:27156075|PMID:28492532|PMID:31108397|PMID:31116477|PMID:32409511|PMID:32843152|PMID:34275688
8767594	Sqstm1	sequestosome 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8767594	Sqstm1	sequestosome 1	gene	DOID:767	muscular atrophy		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:24042580|PMID:24899140|PMID:25741868|PMID:28492532|PMID:31859009
8767594	Sqstm1	sequestosome 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:736484	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29793971
8767594	Sqstm1	sequestosome 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:17188686|PMID:24899140|PMID:25741868|PMID:28492532|PMID:31116477
8767594	Sqstm1	sequestosome 1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:69287	D	RGD:9068941	20200609	RGD		protein:decreased expression:basal ganglion	PMID:23884876|REF_RGD_ID:11561935
8767594	Sqstm1	sequestosome 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8767594	Sqstm1	sequestosome 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:17188686|PMID:24899140|PMID:25741868|PMID:28492532|PMID:31116477
8767594	Sqstm1	sequestosome 1	gene	DOID:9004866	Ataxia		ISO	RGD:736484	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:26467025|PMID:27545679|PMID:28492532
8767594	Sqstm1	sequestosome 1	gene	DOID:9004947	hippocampal atrophy		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hippocampal atrophy	PMID:25741868|PMID:28492532
8767594	Sqstm1	sequestosome 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:17188686|PMID:24899140|PMID:25741868|PMID:28492532|PMID:31116477
8767594	Sqstm1	sequestosome 1	gene	DOID:9005587	Starvation		ISO	RGD:736484	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:26483381
8767594	Sqstm1	sequestosome 1	gene	DOID:9005809	Thyroid Nodule		ISO	RGD:736484	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid nodule	PMID:25741868|PMID:26467025|PMID:27545679|PMID:28492532
8767594	Sqstm1	sequestosome 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8767594	Sqstm1	sequestosome 1	gene	DOID:9007114	Mobility Limitation		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:25741868|PMID:28492532
8767594	Sqstm1	sequestosome 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:24042580|PMID:24899140|PMID:25741868|PMID:28492532|PMID:31859009
8767594	Sqstm1	sequestosome 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:736484	D	RGD:9068941	20240404	CTD		CTD Direct Evidence: therapeutic	PMID:33933676
8767594	Sqstm1	sequestosome 1	gene	DOID:9007736	Vertigo		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:17188686|PMID:24899140|PMID:25741868|PMID:28492532|PMID:31116477
8767594	Sqstm1	sequestosome 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8767594	Sqstm1	sequestosome 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8767594	Sqstm1	sequestosome 1	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	PMID:25741868|PMID:28492532
8767594	Sqstm1	sequestosome 1	gene	DOID:9408	acute myocardial infarction	treatment	ISO	RGD:69287	D	RGD:9068941	20241026	RGD			PMID:30144448|REF_RGD_ID:407571674
8767594	Sqstm1	sequestosome 1	gene	DOID:9923	developmental coordination disorder		ISO	RGD:736484	D	RGD:9068941	20201218	CTD		CTD Direct Evidence: marker/mechanism	PMID:32773031
8767606	Znf25	zinc finger protein 25	gene	DOID:1324	lung cancer		ISO	RGD:1344079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8767606	Znf25	zinc finger protein 25	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8767606	Znf25	zinc finger protein 25	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8767616	Znf513	zinc finger protein 513	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8767616	Znf513	zinc finger protein 513	gene	DOID:0110362	retinitis pigmentosa 58		ISO	RGD:1321365	D	RGD:7240710	20180130	OMIM			
8767616	Znf513	zinc finger protein 513	gene	DOID:0110362	retinitis pigmentosa 58		ISO	RGD:1321365	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 58 | ClinVar Annotator: match by term: ZNF513-related condition	PMID:20227676|PMID:20797688|PMID:25741868|PMID:28492532
8767616	Znf513	zinc finger protein 513	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321365	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:20227676|PMID:20797688|PMID:25741868|PMID:28492532
8767616	Znf513	zinc finger protein 513	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:28492532
8767616	Znf513	zinc finger protein 513	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8767616	Znf513	zinc finger protein 513	gene	DOID:5723	optic atrophy		ISO	RGD:1321365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8767616	Znf513	zinc finger protein 513	gene	DOID:8501	fundus dystrophy		ISO	RGD:1321365	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
8767616	Znf513	zinc finger protein 513	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8767636	Znf184	zinc finger protein 184	gene	DOID:10283	prostate cancer		ISO	RGD:1312451	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8767636	Znf184	zinc finger protein 184	gene	DOID:10283	prostate cancer		ISO	RGD:1312451	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8767636	Znf184	zinc finger protein 184	gene	DOID:10534	stomach cancer		ISO	RGD:1312451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8767636	Znf184	zinc finger protein 184	gene	DOID:1909	melanoma		ISO	RGD:1312451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8767636	Znf184	zinc finger protein 184	gene	DOID:5041	esophageal cancer		ISO	RGD:1312451	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8767636	Znf184	zinc finger protein 184	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8767636	Znf184	zinc finger protein 184	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8767685	Sirpa	signal regulatory protein alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8767685	Sirpa	signal regulatory protein alpha	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:736759	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
8767685	Sirpa	signal regulatory protein alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8767685	Sirpa	signal regulatory protein alpha	gene	DOID:1324	lung cancer		ISO	RGD:736759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8767685	Sirpa	signal regulatory protein alpha	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8767685	Sirpa	signal regulatory protein alpha	gene	DOID:4362	cervical cancer		ISO	RGD:736759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8767685	Sirpa	signal regulatory protein alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8767685	Sirpa	signal regulatory protein alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767685	Sirpa	signal regulatory protein alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
8767685	Sirpa	signal regulatory protein alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8767710	Gnb1	G protein subunit beta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8767710	Gnb1	G protein subunit beta 1	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular heterotopia	PMID:28492532|PMID:34646230|PMID:35982159|PMID:35982160|PMID:36980980
8767710	Gnb1	G protein subunit beta 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:732785	D	RGD:7240710	20201223	OMIM			
8767710	Gnb1	G protein subunit beta 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:732785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:27108799|PMID:27759915|PMID:28492532|PMID:9596582
8767710	Gnb1	G protein subunit beta 1	gene	DOID:0060307	autosomal dominant intellectual developmental disorder		ISO	RGD:732785	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability	PMID:25741868
8767710	Gnb1	G protein subunit beta 1	gene	DOID:0070072	autosomal dominant intellectual developmental disorder 42		ISO	RGD:732785	D	RGD:7240710	20190315	OMIM			
8767710	Gnb1	G protein subunit beta 1	gene	DOID:0070072	autosomal dominant intellectual developmental disorder 42		ISO	RGD:732785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 42	PMID:19344873|PMID:25485910|PMID:25741868|PMID:27108799|PMID:27668284|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29174093|PMID:30194818|PMID:31034681|PMID:32581362|PMID:32901917|PMID:32918542|PMID:35122616|PMID:9596582
8767710	Gnb1	G protein subunit beta 1	gene	DOID:1059	intellectual disability		ISO	RGD:732785	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28492532|PMID:29174093|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582
8767710	Gnb1	G protein subunit beta 1	gene	DOID:1059	intellectual disability		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:19344873|PMID:25485910|PMID:25741868|PMID:27108799|PMID:27668284|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29174093|PMID:30194818|PMID:30504930|PMID:31785789|PMID:32134617|PMID:34646230|PMID:35982159|PMID:35982160|PMID:36980980|PMID:9596582
8767710	Gnb1	G protein subunit beta 1	gene	DOID:1059	intellectual disability		ISO	RGD:732785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:19344873|PMID:25741868|PMID:27108799|PMID:27668284|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29174093|PMID:30194818|PMID:31785789|PMID:34646230|PMID:35982159|PMID:35982160|PMID:36980980|PMID:9596582
8767710	Gnb1	G protein subunit beta 1	gene	DOID:10907	microcephaly		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8767710	Gnb1	G protein subunit beta 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532|PMID:34646230|PMID:35982159|PMID:35982160|PMID:36980980
8767710	Gnb1	G protein subunit beta 1	gene	DOID:12849	autistic disorder		ISO	RGD:732785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:27108799|PMID:27759915|PMID:28492532|PMID:29174093|PMID:30194818|PMID:9596582
8767710	Gnb1	G protein subunit beta 1	gene	DOID:1459	hypothyroidism		ISO	RGD:732785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25485910|PMID:25741868|PMID:27108799|PMID:28492532|PMID:32901917
8767710	Gnb1	G protein subunit beta 1	gene	DOID:1596	depressive disorder		ISO	RGD:732785	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22113448
8767710	Gnb1	G protein subunit beta 1	gene	DOID:1826	epilepsy		ISO	RGD:732785	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28492532|PMID:30194818|PMID:30504930|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582
8767710	Gnb1	G protein subunit beta 1	gene	DOID:1826	epilepsy		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder | ClinVar Annotator: match by term: Seizures	PMID:19344873|PMID:25485910|PMID:25741868|PMID:27108799|PMID:27668284|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29694806|PMID:30194818|PMID:30504930|PMID:31735425|PMID:32134617|PMID:32901917|PMID:32918542|PMID:34646230|PMID:35982159|PMID:35982160|PMID:36980980|PMID:9596582
8767710	Gnb1	G protein subunit beta 1	gene	DOID:1826	epilepsy		ISO	RGD:732785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:19344873|PMID:25485910|PMID:25741868|PMID:27108799|PMID:27668284|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29694806|PMID:30194818|PMID:31735425|PMID:32901917|PMID:32918542|PMID:34646230|PMID:35982159|PMID:35982160|PMID:36980980|PMID:9596582
8767710	Gnb1	G protein subunit beta 1	gene	DOID:2030	anxiety disorder		ISO	RGD:732785	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22113448
8767710	Gnb1	G protein subunit beta 1	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:28087732
8767710	Gnb1	G protein subunit beta 1	gene	DOID:2871	endometrial carcinoma		ISO	RGD:732785	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:25741868|PMID:27108799
8767710	Gnb1	G protein subunit beta 1	gene	DOID:3138	acanthosis nigricans		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	PMID:28087732
8767710	Gnb1	G protein subunit beta 1	gene	DOID:3459	breast carcinoma		ISO	RGD:732785	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:27108799
8767710	Gnb1	G protein subunit beta 1	gene	DOID:3650	lactic acidosis		ISO	RGD:732785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25485910|PMID:25741868|PMID:27108799|PMID:28492532|PMID:32901917
8767710	Gnb1	G protein subunit beta 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8767710	Gnb1	G protein subunit beta 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8767710	Gnb1	G protein subunit beta 1	gene	DOID:543	dystonia		ISO	RGD:732785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:19344873|PMID:25741868|PMID:27668284|PMID:28087732|PMID:28492532|PMID:30194818|PMID:31034681|PMID:32581362|PMID:32918542|PMID:35122616
8767710	Gnb1	G protein subunit beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767710	Gnb1	G protein subunit beta 1	gene	DOID:6000	congestive heart failure	disease_progression	ISO	RGD:732785	D	RGD:9068941	20221027	RGD		DNA:mutations: :	PMID:33779075|REF_RGD_ID:155630627
8767710	Gnb1	G protein subunit beta 1	gene	DOID:630	genetic disease		ISO	RGD:732785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19344873|PMID:25741868|PMID:27108799|PMID:27668284|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29174093|PMID:30194818|PMID:9596582
8767710	Gnb1	G protein subunit beta 1	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868|PMID:27108799|PMID:27759915|PMID:29174093|PMID:30194818|PMID:9596582
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:732785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:19344873|PMID:25741868|PMID:27668284|PMID:28087732|PMID:28492532|PMID:30194818
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25485910|PMID:25741868|PMID:27108799|PMID:28492532|PMID:32901917
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9001722	Dysarthria		ISO	RGD:732785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:19344873|PMID:25741868|PMID:27668284|PMID:28087732|PMID:28492532|PMID:30194818
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:27108799|PMID:27759915|PMID:29174093|PMID:30194818|PMID:9596582
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9002916	Hyperphagia		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	PMID:25741868
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:27108799|PMID:27759915|PMID:29174093|PMID:30194818|PMID:9596582
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:732785	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28087732|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32918542|PMID:32963807|PMID:9596582
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9005077	Joint Instability		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:28087732
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9005466	Language Development Disorders		ISO	RGD:732785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868|PMID:27108799|PMID:28492532|PMID:30194818
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: hypotonia | ClinVar Annotator: match by term: poor muscle tone	PMID:19344873|PMID:25485910|PMID:25741868|PMID:27108799|PMID:27668284|PMID:27759915|PMID:28087732|PMID:28492532|PMID:30194818|PMID:32901917|PMID:9596582
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9007573	Flatfoot		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9007722	Myoclonus		ISO	RGD:732785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:19344873|PMID:25741868|PMID:27668284|PMID:28087732|PMID:28492532|PMID:30194818
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9007874	Liver Failure		ISO	RGD:732785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Liver failure	PMID:25485910|PMID:25741868|PMID:27108799|PMID:28492532|PMID:32901917
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19344873|PMID:25485910|PMID:25741868|PMID:27108799|PMID:27668284|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29174093|PMID:30194818|PMID:32901917|PMID:35253369|PMID:36405774|PMID:37275776|PMID:9596582
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:25741868
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:28087732
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:732785	D	RGD:7240710	20230505	OMIM			
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:732785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acute lymphoid leukemia	PMID:25485910|PMID:25741868|PMID:27108799|PMID:28492532|PMID:32901917
8767710	Gnb1	G protein subunit beta 1	gene	DOID:9970	obesity		ISO	RGD:732785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28087732
8767738	Spdya	speedy/RINGO cell cycle regulator family member A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8767738	Spdya	speedy/RINGO cell cycle regulator family member A	gene	DOID:1909	melanoma		ISO	RGD:1352707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8767738	Spdya	speedy/RINGO cell cycle regulator family member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767754	Galnt16	polypeptide N-acetylgalactosaminyltransferase 16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8767754	Galnt16	polypeptide N-acetylgalactosaminyltransferase 16	gene	DOID:1115	sarcoma		ISO	RGD:1320965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8767754	Galnt16	polypeptide N-acetylgalactosaminyltransferase 16	gene	DOID:1909	melanoma		ISO	RGD:1320965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8767754	Galnt16	polypeptide N-acetylgalactosaminyltransferase 16	gene	DOID:3070	high grade glioma		ISO	RGD:1320965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8767754	Galnt16	polypeptide N-acetylgalactosaminyltransferase 16	gene	DOID:3275	thymoma		ISO	RGD:1320965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8767754	Galnt16	polypeptide N-acetylgalactosaminyltransferase 16	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8767754	Galnt16	polypeptide N-acetylgalactosaminyltransferase 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767754	Galnt16	polypeptide N-acetylgalactosaminyltransferase 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8767754	Galnt16	polypeptide N-acetylgalactosaminyltransferase 16	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1320965	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:10906	D	RGD:9068941	20200609	RGD			PMID:9850086|REF_RGD_ID:9685350
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:0080365	endometrial hyperplasia		ISO	RGD:736005	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:17352221|REF_RGD_ID:2298522
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:10283	prostate cancer		ISO	RGD:3100	D	RGD:9068941	20200609	RGD			PMID:15894268|REF_RGD_ID:9685352
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:10286	prostate carcinoma		ISO	RGD:3100	D	RGD:9068941	20200609	RGD			PMID:11406539|REF_RGD_ID:1582381
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:1073	renal hypertension		ISO	RGD:3100	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney medulla	PMID:12923405|REF_RGD_ID:1302333
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:10763	hypertension		ISO	RGD:3100	D	RGD:9068941	20200609	RGD			PMID:19398663|REF_RGD_ID:9685347
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:10763	hypertension	treatment	ISO	RGD:10906	D	RGD:9068941	20200609	RGD			PMID:19398663|REF_RGD_ID:9685347
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:10763	hypertension	treatment	ISO	RGD:3100	D	RGD:9068941	20200609	RGD			PMID:19398663|REF_RGD_ID:9685347
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:1380	endometrial cancer	disease_progression	ISO	RGD:736005	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:17352221|REF_RGD_ID:2298522
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:13948	bladder neck obstruction	treatment	ISO	RGD:3100	D	RGD:9068941	20200609	RGD			PMID:23313213|REF_RGD_ID:7257549
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:736005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24890593
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:3068	glioblastoma	severity	ISO	RGD:736005	D	RGD:9068941	20200609	RGD		protein:increased expression:brain (human)	PMID:7616276|REF_RGD_ID:7207145
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:736005	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:19596921|REF_RGD_ID:5129528
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:4247	coronary restenosis	treatment	ISO	RGD:3100	D	RGD:9068941	20200609	RGD			PMID:21139058|REF_RGD_ID:9685362
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:4362	cervical cancer		ISO	RGD:736005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:5199	ureteral obstruction		ISO	RGD:736005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28318631
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:5844	myocardial infarction		ISO	RGD:10906	D	RGD:9068941	20200609	RGD			PMID:16769909|REF_RGD_ID:1582373
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:736005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25847246
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:9000945	Ventilator-Induced Lung Injury		ISO	RGD:3100	D	RGD:9068941	20200609	RGD			PMID:21567117|PMID:21935365|REF_RGD_ID:9685338|REF_RGD_ID:9685370
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:3100	D	RGD:9068941	20200609	RGD			PMID:17027671|REF_RGD_ID:2325934
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:3100	D	RGD:9068941	20200609	RGD			PMID:9888422|REF_RGD_ID:9685353
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:9002055	Chronic Allograft Nephropathy	treatment	ISO	RGD:3100	D	RGD:9068941	20200609	RGD			PMID:18209025|REF_RGD_ID:9685339
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:3100	D	RGD:9068941	20200609	RGD			PMID:9549496|REF_RGD_ID:8547909
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:9002801	Recurrence		ISO	RGD:736005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25596746
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:10906	D	RGD:9068941	20200609	RGD			PMID:23100416|REF_RGD_ID:9685340
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:736005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:3100	D	RGD:9068941	20200609	RGD		associated with Heart Failure	PMID:12875773|REF_RGD_ID:9685341
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:736005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:3100	D	RGD:9068941	20200609	RGD		associated with Sepsis	PMID:21567117|REF_RGD_ID:9685338
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:736005	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:19596921|REF_RGD_ID:5129528
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:9005233	Experimental Mammary Neoplasms	onset	ISO	RGD:10906	D	RGD:9068941	20200609	RGD			PMID:9850086|REF_RGD_ID:9685350
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:9005396	Intimal Hyperplasia		ISO	RGD:3100	D	RGD:9068941	20200609	RGD			PMID:20098355|REF_RGD_ID:9685369
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:9006081	Osteolysis		ISO	RGD:10906	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms	PMID:15894268|REF_RGD_ID:9685352
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:3100	D	RGD:9068941	20200609	RGD			PMID:9546322|REF_RGD_ID:9685357
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8767773	Mmp7	matrix metallopeptidase 7	gene	DOID:9007730	Burns		ISO	RGD:3100	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ileum	PMID:15182445|REF_RGD_ID:9685358
8767798	Pipox	pipecolic acid and sarcosine oxidase	gene	DOID:1324	lung cancer		ISO	RGD:1322755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8767798	Pipox	pipecolic acid and sarcosine oxidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767798	Pipox	pipecolic acid and sarcosine oxidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8767798	Pipox	pipecolic acid and sarcosine oxidase	gene	DOID:906	peroxisomal disease		ISO	RGD:1322755	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10642506
8767813	Emilin2	elastin microfibril interfacer 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8767813	Emilin2	elastin microfibril interfacer 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8767813	Emilin2	elastin microfibril interfacer 2	gene	DOID:1115	sarcoma		ISO	RGD:1313316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8767813	Emilin2	elastin microfibril interfacer 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8767813	Emilin2	elastin microfibril interfacer 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8767813	Emilin2	elastin microfibril interfacer 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313316	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8767813	Emilin2	elastin microfibril interfacer 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767813	Emilin2	elastin microfibril interfacer 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8767813	Emilin2	elastin microfibril interfacer 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8767813	Emilin2	elastin microfibril interfacer 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8767813	Emilin2	elastin microfibril interfacer 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8767826	Spag1	sperm associated antigen 1	gene	DOID:0050144	Kartagener syndrome		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kartagener syndrome	PMID:24055112
8767826	Spag1	sperm associated antigen 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8767826	Spag1	sperm associated antigen 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8767826	Spag1	sperm associated antigen 1	gene	DOID:0060686	autosomal dominant nocturnal frontal lobe epilepsy 5		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5	PMID:24055112|PMID:28492532
8767826	Spag1	sperm associated antigen 1	gene	DOID:0110607	primary ciliary dyskinesia 28		ISO	RGD:1321762	D	RGD:7240710	20180130	OMIM			
8767826	Spag1	sperm associated antigen 1	gene	DOID:0110607	primary ciliary dyskinesia 28		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 28, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 28 | ClinVar Annotator: match by term: Primary ciliary dyskinesia 28	PMID:16199547|PMID:17576681|PMID:24033266|PMID:24055112|PMID:25640679|PMID:25741868|PMID:26139845|PMID:27637300|PMID:28492532|PMID:30067075|PMID:30293640|PMID:35178554|PMID:9536098
8767826	Spag1	sperm associated antigen 1	gene	DOID:0111590	Cohen syndrome		ISO	RGD:126761945|RGD:12890452|RGD:405071895	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: VPS13B-related condition	PMID:25741868|PMID:28492532
8767826	Spag1	sperm associated antigen 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8767826	Spag1	sperm associated antigen 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8767826	Spag1	sperm associated antigen 1	gene	DOID:1115	sarcoma		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8767826	Spag1	sperm associated antigen 1	gene	DOID:1324	lung cancer		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8767826	Spag1	sperm associated antigen 1	gene	DOID:1909	melanoma		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8767826	Spag1	sperm associated antigen 1	gene	DOID:3275	thymoma		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8767826	Spag1	sperm associated antigen 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8767826	Spag1	sperm associated antigen 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8767826	Spag1	sperm associated antigen 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321762	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8767826	Spag1	sperm associated antigen 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8767826	Spag1	sperm associated antigen 1	gene	DOID:630	genetic disease		ISO	RGD:1321762	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8767826	Spag1	sperm associated antigen 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8767826	Spag1	sperm associated antigen 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8767826	Spag1	sperm associated antigen 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8767826	Spag1	sperm associated antigen 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8767826	Spag1	sperm associated antigen 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8767826	Spag1	sperm associated antigen 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8767826	Spag1	sperm associated antigen 1	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:24033266|PMID:25741868|PMID:28492532
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1322215	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:25741868|PMID:28492532|PMID:32531858
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1322215	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0081292	traumatic brain injury		ISO	RGD:1322215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27822499
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0110005	Leber congenital amaurosis 9		ISO	RGD:1322215	D	RGD:7240710	20180130	OMIM			
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0110005	Leber congenital amaurosis 9		ISO	RGD:1322215	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Amaurosis congenita of Leber, type 9 | ClinVar Annotator: match by term: LEBER CONGENITAL AMAUROSIS 9 | ClinVar Annotator: match by term: Leber congenital amaurosis 9 | ClinVar Annotator: match by term: NMNAT1-related retinopathy	PMID:16199547|PMID:17576681|PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24791140|PMID:24830548|PMID:24940029|PMID:25412400|PMID:25741868|PMID:25988908|PMID:26018082|PMID:26047050|PMID:26103963|PMID:26112015|PMID:26316326|PMID:26464178|PMID:27032803|PMID:28041643|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28559085|PMID:29053603|PMID:29074561|PMID:29178642|PMID:29184169|PMID:29186038|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31054281|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31877759|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32165824|PMID:32507954|PMID:32531858|PMID:32533184|PMID:32581362|PMID:32865313|PMID:33668384|PMID:33749171|PMID:34426522|PMID:34837036|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:3691693|PMID:9536098
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0112290	spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis		ISO	RGD:1322215	D	RGD:7240710	20210414	OMIM			
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0112290	spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis		ISO	RGD:1322215	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SHILCA SYNDROME	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25412400|PMID:25741868|PMID:26018082|PMID:26047050|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28559085|PMID:29074561|PMID:29178642|PMID:29184169|PMID:29186038|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31054281|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1322215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32533184|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1322215	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:26112015|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29053603|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:1310996	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dorsal root ganglion:	PMID:16914673|REF_RGD_ID:13781948
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1322215	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:13250	diarrhea		ISO	RGD:1322215	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:1432	blindness		ISO	RGD:1322215	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1322215	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38219857
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:1826	epilepsy		ISO	RGD:1322215	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24940029|PMID:25741868|PMID:26112015|PMID:28492532|PMID:29053603|PMID:29184169|PMID:30004997|PMID:33749171
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:2978	carbohydrate metabolic disorder		ISO	RGD:1322215	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of mucopolysaccharide metabolism	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1322215	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Focal motor seizure	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:4448	macular degeneration		ISO	RGD:1322215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22842229
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:5679	retinal disease		ISO	RGD:1322215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:22842229|PMID:28492532|PMID:29178642
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:5723	optic atrophy		ISO	RGD:1322215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22842229
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1322215	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:83	cataract		ISO	RGD:1322215	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:8466	retinal degeneration		ISO	RGD:1322215	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal degeneration	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1322215	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:26112015|PMID:26316326|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29053603|PMID:29178642|PMID:29184169|PMID:29186038|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:3196484|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34837036|PMID:35754085|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1322215	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1322215	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:24940029|PMID:25741868|PMID:26112015|PMID:28492532|PMID:29053603|PMID:29184169|PMID:30004997|PMID:33749171
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9002320	Neurobehavioral Manifestations		ISO	RGD:1322215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27822499
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:1322215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27822499
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1322215	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:24940029|PMID:25741868|PMID:26112015|PMID:28492532|PMID:29053603|PMID:29184169|PMID:30004997|PMID:33749171
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9004910	Hereditary Macular Coloboma		ISO	RGD:1322215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22842230
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322215	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8767852	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1322215	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107
8767863	Pax8	paired box 8	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:730849	D	RGD:9068941	20260604	RGD		nongoitrous congenital hypothyroidism 2, OMIM:218700	PMID:9590296|REF_RGD_ID:1600298
8767863	Pax8	paired box 8	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:730850	D	RGD:9068941	20260604	MouseDO			
8767863	Pax8	paired box 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:730849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8767863	Pax8	paired box 8	gene	DOID:0070124	congenital nongoitrous hypothyroidism 2		ISO	RGD:730849	D	RGD:7240710	20180130	OMIM			
8767863	Pax8	paired box 8	gene	DOID:0070124	congenital nongoitrous hypothyroidism 2		ISO	RGD:730849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2 | ClinVar Annotator: match by term: PAX8-related condition	PMID:12116225|PMID:17437516|PMID:23647375|PMID:25741868|PMID:28060725|PMID:28444304|PMID:28492532|PMID:29159607|PMID:30222900|PMID:9382140|PMID:9523167
8767863	Pax8	paired box 8	gene	DOID:0080600	COVID-19		ISO	RGD:730849	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8767863	Pax8	paired box 8	gene	DOID:1059	intellectual disability		ISO	RGD:730849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8767863	Pax8	paired box 8	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:730849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8767863	Pax8	paired box 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:730849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8767863	Pax8	paired box 8	gene	DOID:2394	ovarian cancer		ISO	RGD:730849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8767863	Pax8	paired box 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767863	Pax8	paired box 8	gene	DOID:630	genetic disease		ISO	RGD:730849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8767863	Pax8	paired box 8	gene	DOID:9003133	Hypertelorism		ISO	RGD:730849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8767863	Pax8	paired box 8	gene	DOID:9006494	Follicular Thyroid Cancer		ISO	RGD:730849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15785241
8767863	Pax8	paired box 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8767863	Pax8	paired box 8	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:730849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8767863	Pax8	paired box 8	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:730849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075790
8767896	Ccno	cyclin O	gene	DOID:0110600	primary ciliary dyskinesia 29		ISO	RGD:1346890	D	RGD:7240710	20180130	OMIM			
8767896	Ccno	cyclin O	gene	DOID:0110600	primary ciliary dyskinesia 29		ISO	RGD:1346890	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: CCNO-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 29	PMID:24747639|PMID:25741868|PMID:28492532|PMID:30067075|PMID:31879361|PMID:31980526|PMID:32367404|PMID:32622824|PMID:331765523
8767896	Ccno	cyclin O	gene	DOID:0110600	primary ciliary dyskinesia 29		ISO	RGD:1346890	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: CCNO-related condition | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 29 | ClinVar Annotator: match by term: Primary ciliary dyskinesia 29	PMID:24747639|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30067075|PMID:31879361|PMID:31980526|PMID:32367404|PMID:32622824|PMID:331765523
8767896	Ccno	cyclin O	gene	DOID:1324	lung cancer		ISO	RGD:1346890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8767896	Ccno	cyclin O	gene	DOID:2320	obstructive lung disease		ISO	RGD:1346890	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24747639
8767896	Ccno	cyclin O	gene	DOID:3275	thymoma		ISO	RGD:1346890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8767896	Ccno	cyclin O	gene	DOID:4362	cervical cancer		ISO	RGD:1346890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8767896	Ccno	cyclin O	gene	DOID:630	genetic disease		ISO	RGD:1346890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8767896	Ccno	cyclin O	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1346890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia	PMID:24747639|PMID:26139845|PMID:28492532
8767896	Ccno	cyclin O	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1346890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:24747639|PMID:25741868|PMID:26139845|PMID:26777464|PMID:28492532|PMID:30067075|PMID:31650533|PMID:32367404|PMID:9536098
8767914	Hacd4	3-hydroxyacyl-CoA dehydratase 4	gene	DOID:1115	sarcoma		ISO	RGD:1601904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8767914	Hacd4	3-hydroxyacyl-CoA dehydratase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8767924	Znf804b	zinc finger protein 804B	gene	DOID:1909	melanoma		ISO	RGD:1601814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8767924	Znf804b	zinc finger protein 804B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8767931	Plekha1	pleckstrin homology domain containing A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8767931	Plekha1	pleckstrin homology domain containing A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8767931	Plekha1	pleckstrin homology domain containing A1	gene	DOID:0080600	COVID-19		ISO	RGD:1345011	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8767931	Plekha1	pleckstrin homology domain containing A1	gene	DOID:1115	sarcoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8767931	Plekha1	pleckstrin homology domain containing A1	gene	DOID:1909	melanoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8767931	Plekha1	pleckstrin homology domain containing A1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8767931	Plekha1	pleckstrin homology domain containing A1	gene	DOID:4362	cervical cancer		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8767931	Plekha1	pleckstrin homology domain containing A1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8767931	Plekha1	pleckstrin homology domain containing A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345011	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8767931	Plekha1	pleckstrin homology domain containing A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767931	Plekha1	pleckstrin homology domain containing A1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8767931	Plekha1	pleckstrin homology domain containing A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8767931	Plekha1	pleckstrin homology domain containing A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8767931	Plekha1	pleckstrin homology domain containing A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8767931	Plekha1	pleckstrin homology domain containing A1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345011	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
8767982	Tcp11l2	t-complex 11 like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8767982	Tcp11l2	t-complex 11 like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8767982	Tcp11l2	t-complex 11 like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8767982	Tcp11l2	t-complex 11 like 2	gene	DOID:1115	sarcoma		ISO	RGD:1605554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8767982	Tcp11l2	t-complex 11 like 2	gene	DOID:1324	lung cancer		ISO	RGD:1605554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8767982	Tcp11l2	t-complex 11 like 2	gene	DOID:1909	melanoma		ISO	RGD:1605554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8767982	Tcp11l2	t-complex 11 like 2	gene	DOID:3275	thymoma		ISO	RGD:1605554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8767982	Tcp11l2	t-complex 11 like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8767982	Tcp11l2	t-complex 11 like 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8767982	Tcp11l2	t-complex 11 like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605554	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8767982	Tcp11l2	t-complex 11 like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8767982	Tcp11l2	t-complex 11 like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8768006	Cfap68	cilia and flagella associated protein 68	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8768006	Cfap68	cilia and flagella associated protein 68	gene	DOID:0060058	lymphoma		ISO	RGD:1345294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8768006	Cfap68	cilia and flagella associated protein 68	gene	DOID:4362	cervical cancer		ISO	RGD:1345294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8768006	Cfap68	cilia and flagella associated protein 68	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8768006	Cfap68	cilia and flagella associated protein 68	gene	DOID:5041	esophageal cancer		ISO	RGD:1345294	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8768006	Cfap68	cilia and flagella associated protein 68	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768006	Cfap68	cilia and flagella associated protein 68	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8768047	Rpn1	ribophorin I	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8768047	Rpn1	ribophorin I	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768047	Rpn1	ribophorin I	gene	DOID:10534	stomach cancer		ISO	RGD:731637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8768047	Rpn1	ribophorin I	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8768047	Rpn1	ribophorin I	gene	DOID:1909	melanoma		ISO	RGD:731637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8768047	Rpn1	ribophorin I	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8768047	Rpn1	ribophorin I	gene	DOID:4362	cervical cancer		ISO	RGD:731637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8768047	Rpn1	ribophorin I	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8768047	Rpn1	ribophorin I	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731637	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8768047	Rpn1	ribophorin I	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8768047	Rpn1	ribophorin I	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768047	Rpn1	ribophorin I	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8768047	Rpn1	ribophorin I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768047	Rpn1	ribophorin I	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8768094	LOC102028200	cytochrome c oxidase assembly factor 6 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768094	LOC102028200	cytochrome c oxidase assembly factor 6 homolog	gene	DOID:0080357	mitochondrial complex IV deficiency nuclear type 2		ISO	RGD:1352912	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8768094	LOC102028200	cytochrome c oxidase assembly factor 6 homolog	gene	DOID:0080360	mitochondrial complex IV deficiency nuclear type 13		ISO	RGD:1352912	D	RGD:7240710	20180130	OMIM			
8768094	LOC102028200	cytochrome c oxidase assembly factor 6 homolog	gene	DOID:0080360	mitochondrial complex IV deficiency nuclear type 13		ISO	RGD:1352912	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COA6-related condition | ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13	PMID:24549041|PMID:25741868|PMID:28492532|PMID:38703036
8768094	LOC102028200	cytochrome c oxidase assembly factor 6 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1352912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8768094	LOC102028200	cytochrome c oxidase assembly factor 6 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1352912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8768094	LOC102028200	cytochrome c oxidase assembly factor 6 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768094	LOC102028200	cytochrome c oxidase assembly factor 6 homolog	gene	DOID:630	genetic disease		ISO	RGD:1352912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8768094	LOC102028200	cytochrome c oxidase assembly factor 6 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8768094	LOC102028200	cytochrome c oxidase assembly factor 6 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8768107	Rabgap1	RAB GTPase activating protein 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
8768107	Rabgap1	RAB GTPase activating protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8768107	Rabgap1	RAB GTPase activating protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768107	Rabgap1	RAB GTPase activating protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8768107	Rabgap1	RAB GTPase activating protein 1	gene	DOID:10907	microcephaly		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8768107	Rabgap1	RAB GTPase activating protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8768107	Rabgap1	RAB GTPase activating protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8768107	Rabgap1	RAB GTPase activating protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8768107	Rabgap1	RAB GTPase activating protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8768107	Rabgap1	RAB GTPase activating protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8768107	Rabgap1	RAB GTPase activating protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8768107	Rabgap1	RAB GTPase activating protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8768107	Rabgap1	RAB GTPase activating protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312283	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8768107	Rabgap1	RAB GTPase activating protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768107	Rabgap1	RAB GTPase activating protein 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868
8768107	Rabgap1	RAB GTPase activating protein 1	gene	DOID:9002554	Tachycardia		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:25741868
8768107	Rabgap1	RAB GTPase activating protein 1	gene	DOID:9002589	Bone Fractures		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:25741868
8768107	Rabgap1	RAB GTPase activating protein 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8768107	Rabgap1	RAB GTPase activating protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768107	Rabgap1	RAB GTPase activating protein 1	gene	DOID:9007736	Vertigo		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868
8768107	Rabgap1	RAB GTPase activating protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8768107	Rabgap1	RAB GTPase activating protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8768147	Mlkl	mixed lineage kinase domain like pseudokinase	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:1352072	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Maturity-onset diabetes of the young	PMID:25741868
8768147	Mlkl	mixed lineage kinase domain like pseudokinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768147	Mlkl	mixed lineage kinase domain like pseudokinase	gene	DOID:0060645	chronic recurrent multifocal osteomyelitis		ISO	RGD:1352072	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chronic multifocal osteomyelitis	
8768147	Mlkl	mixed lineage kinase domain like pseudokinase	gene	DOID:0060774	congenital diarrhea		ISO	RGD:1352072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diarrhea	PMID:25741868
8768147	Mlkl	mixed lineage kinase domain like pseudokinase	gene	DOID:10534	stomach cancer		ISO	RGD:1352072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8768147	Mlkl	mixed lineage kinase domain like pseudokinase	gene	DOID:1115	sarcoma		ISO	RGD:1352072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8768147	Mlkl	mixed lineage kinase domain like pseudokinase	gene	DOID:1909	melanoma		ISO	RGD:1352072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8768147	Mlkl	mixed lineage kinase domain like pseudokinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1352072	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8768147	Mlkl	mixed lineage kinase domain like pseudokinase	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1352072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8768147	Mlkl	mixed lineage kinase domain like pseudokinase	gene	DOID:856	biotinidase deficiency		ISO	RGD:1352072	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Biotinidase deficiency	PMID:25741868
8768147	Mlkl	mixed lineage kinase domain like pseudokinase	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1352072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8768147	Mlkl	mixed lineage kinase domain like pseudokinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768147	Mlkl	mixed lineage kinase domain like pseudokinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8768147	Mlkl	mixed lineage kinase domain like pseudokinase	gene	DOID:9256	colorectal cancer		ISO	RGD:1352072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8768161	Fam171a1	family with sequence similarity 171 member A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768161	Fam171a1	family with sequence similarity 171 member A1	gene	DOID:4362	cervical cancer		ISO	RGD:1313160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8768161	Fam171a1	family with sequence similarity 171 member A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313160	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8768161	Fam171a1	family with sequence similarity 171 member A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768184	Nkx6-1	NK6 homeobox 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:69318	D	RGD:9068941	20200609	RGD			PMID:18687784|REF_RGD_ID:2311166
8768184	Nkx6-1	NK6 homeobox 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1346979	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
8768184	Nkx6-1	NK6 homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768184	Nkx6-1	NK6 homeobox 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1346979	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:0050776	non-syndromic X-linked intellectual disability		ISO	RGD:10630	D	RGD:9068941	20250724	MouseDO		OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300504 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:0050776	non-syndromic X-linked intellectual disability		ISO	RGD:731728	D	RGD:9068941	20250724	RGD		DNA:missense mutation:cds:p.R423P (human)	PMID:9668174|REF_RGD_ID:13208831
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:0050776	non-syndromic X-linked intellectual disability		ISO	RGD:731728	D	RGD:9068941	20250724	RGD		DNA:nonsense mutation, missense mutation:cds:p.R70X, p.L92P (human)	PMID:9620768|REF_RGD_ID:13208823
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:731728	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:0112058	non-syndromic X-linked intellectual disability 41		ISO	RGD:731728	D	RGD:7240710	20180130	OMIM			
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:0112058	non-syndromic X-linked intellectual disability 41		ISO	RGD:731728	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GDI1-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 41	PMID:25559331|PMID:25741868|PMID:26975778|PMID:28492532|PMID:9620768
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:1059	intellectual disability		ISO	RGD:731728	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:9620768
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:156439260	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:11830	myopia		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:12849	autistic disorder		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:1324	lung cancer		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:13929	lacrimal duct obstruction		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nasolacrimal duct obstruction	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:1561	cognitive disorder		ISO	RGD:10630	D	RGD:9068941	20200609	RGD			PMID:18829665|REF_RGD_ID:13208822
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:1969	cerebral palsy		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:2213	hemorrhagic disease		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:2355	anemia		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:2468	psychotic disorder		ISO	RGD:731728	D	RGD:9068941	20200609	RGD		associated with Lupus Vasculitis, Central Nervous System	PMID:20421581|REF_RGD_ID:13208821
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:4362	cervical cancer		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:630	genetic disease		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:674	cleft palate		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:9001581	Constipation		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731728	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:9620768
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:731728	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8826463|PMID:9668174
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:731728	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation:cds:p.S396PfsX15 (human)	PMID:22002931|REF_RGD_ID:13208827
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:731728	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731728	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:9620768
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:9008214	Genu Valgum		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
8768195	Gdi1	GDP dissociation inhibitor 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:731728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
8768214	Cimip6	ciliary microtubule inner protein 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8768214	Cimip6	ciliary microtubule inner protein 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:732211	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy	PMID:21270786|PMID:21716271|PMID:23698643|PMID:25741868|PMID:25974703|PMID:26477325|PMID:28252636|PMID:28492532|PMID:28806457|PMID:29264397|PMID:29758562|PMID:31512327|PMID:31513310|PMID:31600826|PMID:32581362|PMID:32954514|PMID:33951346
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:0070309	absence epilepsy		ISO	RGD:732211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:28492532
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:0080461	developmental and epileptic encephalopathy 26		ISO	RGD:732211	D	RGD:7240710	20180130	OMIM			
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:0080461	developmental and epileptic encephalopathy 26		ISO	RGD:732211	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 26 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 | ClinVar Annotator: match by term: KCNB1-related disorder	PMID:17576681|PMID:19029374|PMID:25164438|PMID:25741868|PMID:26467025|PMID:26477325|PMID:26503721|PMID:26648591|PMID:27928161|PMID:28173649|PMID:28492532|PMID:28806457|PMID:29264390|PMID:29264397|PMID:29322350|PMID:30182498|PMID:31054490|PMID:31512327|PMID:31513310|PMID:31600826|PMID:31780880|PMID:31791873|PMID:32036363|PMID:32954514|PMID:33057194|PMID:33132203|PMID:34490615|PMID:35071126|PMID:35982159|PMID:36457583|PMID:8698327|PMID:9536098
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:0080461	developmental and epileptic encephalopathy 26	exacerbates	ISO	RGD:732212	D	RGD:9068941	20210507	RGD		DNA:missense mutation:CDS:p.G379R (mouse)	PMID:33132203|REF_RGD_ID:126908009
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:0080461	developmental and epileptic encephalopathy 26	susceptibility	ISO	RGD:732211	D	RGD:9068941	20210507	RGD		DNA:missense mutations, nonsense mutations, frameshift mutation:CDS:multiple (human)	PMID:28806457|REF_RGD_ID:126908008
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:732211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:1881453|PMID:8398157|PMID:8541859|PMID:9526001
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:732211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: developmental and epileptic encephalopathy	PMID:25741868
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:1059	intellectual disability		ISO	RGD:732211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:732211	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder | ClinVar Annotator: match by term: Attention-deficit/hyperactivity disorder	PMID:25741868|PMID:28492532
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:1115	sarcoma		ISO	RGD:732211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:11782	astigmatism		ISO	RGD:732211	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:28492532
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:11830	myopia		ISO	RGD:732211	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:732212	D	RGD:9068941	20210507	RGD		protein:decreased expression:second lumbar spinal cord segment, motor neuron, neuronal cell body (mouse)	PMID:28504671|REF_RGD_ID:126908005
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:12849	autistic disorder		ISO	RGD:732211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25164438|PMID:25741868|PMID:26503721|PMID:28492532|PMID:33132203
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:1826	epilepsy		ISO	RGD:732211	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:1881453|PMID:25741868|PMID:28492532|PMID:31512327|PMID:31513310|PMID:34490615|PMID:8398157|PMID:8541859|PMID:9526001
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:1826	epilepsy	disease_progression	ISO	RGD:732212	D	RGD:9068941	20210507	RGD			PMID:24494598|REF_RGD_ID:126908006
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:1826	epilepsy	susceptibility	ISO	RGD:732211	D	RGD:9068941	20210507	RGD		DNA:missense mutations, nonsense mutations, frameshift mutation:CDS:multiple (human)	PMID:32954514|REF_RGD_ID:126908007
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:732211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25164438|PMID:25741868|PMID:26477325|PMID:28492532|PMID:31513310|PMID:3153310
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:2030	anxiety disorder		ISO	RGD:732211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532|PMID:31512327|PMID:31513310|PMID:34490615
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:4188	echolalia		ISO	RGD:732211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Echolalia	PMID:1881453|PMID:8398157|PMID:8541859|PMID:9526001
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:4189	mutism		ISO	RGD:732211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mutism	PMID:25741868|PMID:28492532|PMID:31512327|PMID:31513310|PMID:34490615
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:4428	dyslexia		ISO	RGD:732211	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dyslexia	PMID:25741868|PMID:28492532
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:5419	schizophrenia		ISO	RGD:732211	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26240432
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:630	genetic disease		ISO	RGD:732211	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:1881453|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31600826|PMID:33057194|PMID:33144682|PMID:35982159|PMID:36257979|PMID:8398157|PMID:8541859|PMID:9526001
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:2954	D	RGD:9068941	20210507	RGD		protein:decreased expression:tibial nerve, motor neuron, neuronal cell body (rat)	PMID:24355600|REF_RGD_ID:126908004
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:732211	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:28492532
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:9004866	Ataxia		ISO	RGD:732211	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:23705070
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:9005466	Language Development Disorders		ISO	RGD:732211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25164438|PMID:25741868|PMID:26503721|PMID:28492532|PMID:33132203
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:1881453|PMID:8398157|PMID:8541859|PMID:9526001
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:732211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:732211	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:9007892	Tics		ISO	RGD:732211	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tics	PMID:25741868|PMID:28492532
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732211	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:1881453|PMID:8398157|PMID:8541859|PMID:9526001
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:732211	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15088113
8768251	Kcnb1	potassium voltage-gated channel subfamily B member 1	gene	DOID:936	brain disease		ISO	RGD:732211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:28492532
8768257	Ccm2l	CCM2 like scaffold protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768257	Ccm2l	CCM2 like scaffold protein	gene	DOID:10534	stomach cancer		ISO	RGD:1344204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8768257	Ccm2l	CCM2 like scaffold protein	gene	DOID:1324	lung cancer		ISO	RGD:1344204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8768257	Ccm2l	CCM2 like scaffold protein	gene	DOID:4362	cervical cancer		ISO	RGD:1344204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8768257	Ccm2l	CCM2 like scaffold protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768257	Ccm2l	CCM2 like scaffold protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768286	Eif1ax	eukaryotic translation initiation factor 1A X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8768286	Eif1ax	eukaryotic translation initiation factor 1A X-linked	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:1351588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27M-mutant	PMID:27993330|PMID:28594900|PMID:30305285|PMID:32901952|PMID:36371345|PMID:36551583
8768286	Eif1ax	eukaryotic translation initiation factor 1A X-linked	gene	DOID:10534	stomach cancer		ISO	RGD:1351588	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8768286	Eif1ax	eukaryotic translation initiation factor 1A X-linked	gene	DOID:1115	sarcoma		ISO	RGD:1351588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8768286	Eif1ax	eukaryotic translation initiation factor 1A X-linked	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1351588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:30420357|PMID:35101336
8768286	Eif1ax	eukaryotic translation initiation factor 1A X-linked	gene	DOID:4851	pilocytic astrocytoma		ISO	RGD:1351588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pilocytic astrocytoma	PMID:23793026|PMID:27745836|PMID:27993330|PMID:28594900|PMID:28810145|PMID:29206102|PMID:30305285|PMID:30420357|PMID:32901952|PMID:33230298|PMID:36098958|PMID:36371345|PMID:36551583|PMID:37803816
8768286	Eif1ax	eukaryotic translation initiation factor 1A X-linked	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768286	Eif1ax	eukaryotic translation initiation factor 1A X-linked	gene	DOID:6039	uveal melanoma		ISO	RGD:1351588	D	RGD:9068941	20260416	CTD		CTD Direct Evidence: marker/mechanism	PMID:23793026
8768286	Eif1ax	eukaryotic translation initiation factor 1A X-linked	gene	DOID:6438	malignant choroid melanoma		ISO	RGD:1351588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Choroidal melanoma	PMID:25741868
8768286	Eif1ax	eukaryotic translation initiation factor 1A X-linked	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8768286	Eif1ax	eukaryotic translation initiation factor 1A X-linked	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1351588	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085005
8768286	Eif1ax	eukaryotic translation initiation factor 1A X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768286	Eif1ax	eukaryotic translation initiation factor 1A X-linked	gene	DOID:9538	multiple myeloma		ISO	RGD:1351588	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:0060180	colitis	susceptibility	ISO	RGD:732638	D	RGD:9068941	20200609	RGD			PMID:20650341|REF_RGD_ID:5509936
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:0060611	abdominal obesity-metabolic syndrome		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15309680
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18703563
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:0070658	alcohol-associated liver disease	severity	ISO	RGD:732638	D	RGD:9068941	20200609	RGD		DNA:knockout::increased severity in knockouts	PMID:15382117|REF_RGD_ID:5683636
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:0080000	muscular disease		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19683050
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23603006
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:732638	D	RGD:9068941	20200609	RGD			PMID:31211621|REF_RGD_ID:14747028
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737309	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:rs1800206, p.L162V	PMID:12938026|REF_RGD_ID:5561899
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:737309	D	RGD:9068941	20200609	RGD		No association found for any polymorphisms of PPARA, including rs1800206	PMID:17850927|REF_RGD_ID:5561928
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:10763	hypertension		ISO	RGD:3369	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skeletal muscle	PMID:19763017|REF_RGD_ID:2313778
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:10763	hypertension		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:16054168|PMID:19834340
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:10763	hypertension	treatment	ISO	RGD:3369	D	RGD:9068941	20230824	RGD			PMID:15967866|PMID:31489946|REF_RGD_ID:1580222|REF_RGD_ID:401793758
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:10908	hydrocephalus		ISO	RGD:3369	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:brain:Hydrocephalus-Texas (HTX, RS:0000399) vs. SD (RS:0000681) rats	PMID:15964663|REF_RGD_ID:1624238
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:1115	sarcoma		ISO	RGD:737309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21640707
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:11981	morbid obesity	treatment	ISO	RGD:737309	D	RGD:9068941	20250717	RGD			PMID:27051590|REF_RGD_ID:617212663
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:3369	D	RGD:9068941	20200609	RGD			PMID:27939985|REF_RGD_ID:15036816
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:12556	acute kidney tubular necrosis		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19834340
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17405874
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:1485	cystic fibrosis		ISO	RGD:737309	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression, decreased activity:peripheral blood lymphocytes	PMID:16875506|REF_RGD_ID:5683626
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:1574	alcohol use disorder		ISO	RGD:3369	D	RGD:9068941	20250529	RGD		mRNA:increased expression:prefrontal cortex	PMID:32057593|REF_RGD_ID:405096486
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:1909	melanoma		ISO	RGD:737309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:305	carcinoma		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11137312
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:3146	lipid metabolism disorder		ISO	RGD:737309	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.L162V (human)	PMID:10828087|REF_RGD_ID:1580230
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:3310	atopic dermatitis		ISO	RGD:732638	D	RGD:9068941	20200609	RGD		potential therapeutic target with or without glucocorticoid therapy	PMID:21633371|REF_RGD_ID:5509940
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:3310	atopic dermatitis		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:737309	D	RGD:9068941	20200609	RGD		DNA:snp:intron: (human)	PMID:16043164|REF_RGD_ID:1580228
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:4362	cervical cancer		ISO	RGD:737309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:732638	D	RGD:9068941	20200609	RGD			PMID:17888025|REF_RGD_ID:5563035
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:5419	schizophrenia		ISO	RGD:732638	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:557	kidney disease		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316343
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:576	proteinuria		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16054168
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:5844	myocardial infarction		ISO	RGD:737309	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs4253623, minor allele associated with increased risk	PMID:18549840|REF_RGD_ID:5562819
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:3369	D	RGD:9068941	20200609	RGD		associated with hepatitis B;DNA:missense mutation:cds:p.L162V (human)	PMID:19119483|REF_RGD_ID:15042881
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:732638	D	RGD:9068941	20200609	RGD		associated with hepatitis B;DNA:missense mutation:cds:p.L162V (human)	PMID:19119483|REF_RGD_ID:15042881
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:737309	D	RGD:9068941	20200609	RGD		associated with hepatitis B;DNA:missense mutation:cds:p.L162V (human)	PMID:19119483|REF_RGD_ID:15042881
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:783	end stage renal disease		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19878707
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:824	periodontitis		ISO	RGD:3369	D	RGD:9068941	20200609	RGD		possible therapeutic target	PMID:21253492|REF_RGD_ID:5509938
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:8778	Crohn's disease		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21829567
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11137312
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:737309	D	RGD:9068941	20250206	CTD		CTD Direct Evidence: marker/mechanism	PMID:34380243
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9000998	Brain Injuries		ISO	RGD:3369	D	RGD:9068941	20200609	RGD		agonist more effective in combination with simvastatin	PMID:18562561|REF_RGD_ID:5508455
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9001234	Prenatal Exposure Delayed Effects	treatment	ISO	RGD:3369	D	RGD:9068941	20230824	RGD			PMID:31489946|REF_RGD_ID:401793758
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22919386
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9002669	Hypoxia	treatment	ISO	RGD:3369	D	RGD:9068941	20230720	RGD		mRNA, protein:decreased expression:left ventricle myocardium (rat)	PMID:33310031|REF_RGD_ID:329955450
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17261635
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9002906	Multiple Organ Failure	severity	ISO	RGD:732638	D	RGD:9068941	20200609	RGD		associated with Drug Toxicity (CTD:0005347), Zymosan (CHEBI:37671); DNA:knockout::knockout increases severity	PMID:17047518|REF_RGD_ID:5683625
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9003234	Hypertensive Nephropathy		ISO	RGD:3369	D	RGD:9068941	20200609	RGD		Strain: SHRSP	PMID:20671072|REF_RGD_ID:5509943
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9003370	Dyslipidemias		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16168052
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9003936	Cardiomegaly		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22198280
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19151258
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:3369	D	RGD:9068941	20200609	RGD		associated with liver cirrhosis;mRNA, protein:decreased expression:liver (human)	PMID:15685545|REF_RGD_ID:5683635
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:732638	D	RGD:9068941	20200609	RGD		associated with liver cirrhosis;mRNA, protein:decreased expression:liver (human)	PMID:15685545|REF_RGD_ID:5683635
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:737309	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver hepatocytes	PMID:15685545|REF_RGD_ID:5683635
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9004484	Sepsis	severity	ISO	RGD:732638	D	RGD:9068941	20200609	RGD		DNA:knockout::associated with more severe disease	PMID:22089192|REF_RGD_ID:5562037
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9004484	Sepsis	severity	ISO	RGD:737309	D	RGD:9068941	20200609	RGD		RNA:decreased expression:blood:associated with more severe disease	PMID:22089192|REF_RGD_ID:5562037
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:737309	D	RGD:9068941	20200609	RGD		DNA:snp:intron: (human)	PMID:11864924|REF_RGD_ID:1580229
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11137312
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9005369	Hepatomegaly		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14982965
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9005372	Inflammation		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21300114
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12967931|PMID:14563825|PMID:23090186
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9005911	Hyperapobetalipoproteinemia		ISO	RGD:737309	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperapobetalipoproteinemia, susceptibility to	
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15309680
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:3369	D	RGD:9068941	20231005	RGD		mRNA:decreased expression:liver (rat)	PMID:11934685|REF_RGD_ID:628329
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:732638	D	RGD:9068941	20231026	RGD			PMID:31353547|REF_RGD_ID:401850595
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19683050
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:3369	D	RGD:9068941	20200609	RGD		Strain: ZDF	PMID:19317897|REF_RGD_ID:5509944
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20143881|PMID:29134746
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9007346	Cachexia		ISO	RGD:737309	D	RGD:9068941	20200609	RGD		associated with Pulmonary Disease, Chronic Obstructive (COPD, MeSH:D029424); RNA:decreased expression:skeletal muscle	PMID:17459894|REF_RGD_ID:5683621
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:732638	D	RGD:9068941	20200609	RGD		LPS-induced acute liver damage	PMID:21262334|REF_RGD_ID:5509941
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:737309	D	RGD:9068941	20240808	CTD		CTD Direct Evidence: marker/mechanism	PMID:24385052|PMID:38181850
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9007571	Hyperlipoproteinemias		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10828087
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9007692	Insulin Resistance		ISO	RGD:732638	D	RGD:9068941	20200609	RGD			PMID:19322024|REF_RGD_ID:5683642
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9007692	Insulin Resistance		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16168052|PMID:21324916
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16411023
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9351	diabetes mellitus		ISO	RGD:732638	D	RGD:9068941	20240425	MouseDO			
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17317762|PMID:31626838
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9427	hypertensive encephalopathy		ISO	RGD:3369	D	RGD:9068941	20200609	RGD		Strain: SHRSP	PMID:20671072|REF_RGD_ID:5509943
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9452	steatotic liver disease		ISO	RGD:3369	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human)	PMID:16393287|REF_RGD_ID:15042851
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9452	steatotic liver disease		ISO	RGD:732638	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus (CTD:0000249); in high fat-fed foz/foz obese/diabetic mice	PMID:21929649|REF_RGD_ID:5509939
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9452	steatotic liver disease		ISO	RGD:732638	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human)	PMID:16393287|REF_RGD_ID:15042851
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9452	steatotic liver disease		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19124612
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9452	steatotic liver disease		ISO	RGD:737309	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human)	PMID:16393287|REF_RGD_ID:15042851
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:732638	D	RGD:9068941	20200609	RGD			PMID:19472040|REF_RGD_ID:2313779
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9970	obesity		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11089532|PMID:30738174
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9970	obesity	treatment	ISO	RGD:3369	D	RGD:9068941	20230720	RGD		mRNA, protein:decreased expression:left ventricle myocardium (rat)	PMID:33310031|REF_RGD_ID:329955450
8768302	Ppara	peroxisome proliferator activated receptor alpha	gene	DOID:9993	hypoglycemia		ISO	RGD:737309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16777972
8768325	Fam110a	family with sequence similarity 110 member A	gene	DOID:10534	stomach cancer		ISO	RGD:1318939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8768343	Suclg1	succinate-CoA ligase GDP/ADP-forming subunit alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768343	Suclg1	succinate-CoA ligase GDP/ADP-forming subunit alpha	gene	DOID:0080128	mitochondrial DNA depletion syndrome 9		ISO	RGD:731609	D	RGD:7240710	20180130	OMIM			
8768343	Suclg1	succinate-CoA ligase GDP/ADP-forming subunit alpha	gene	DOID:0080128	mitochondrial DNA depletion syndrome 9		ISO	RGD:731609	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | ClinVar Annotator: match by term: SUCLG1-related condition	PMID:16199547|PMID:17576681|PMID:20197121|PMID:20227526|PMID:20453710|PMID:20693550|PMID:21093335|PMID:21639866|PMID:22980518|PMID:25741868|PMID:26475597|PMID:26827111|PMID:27484306|PMID:27896121|PMID:28492532|PMID:29217198|PMID:30470562|PMID:30818899|PMID:31622506|PMID:33230783|PMID:34006472|PMID:34023347|PMID:34988976|PMID:35094435|PMID:35322241|PMID:38703036|PMID:39519275|PMID:9536098
8768343	Suclg1	succinate-CoA ligase GDP/ADP-forming subunit alpha	gene	DOID:10907	microcephaly		ISO	RGD:731609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:20197121|PMID:25741868|PMID:26475597|PMID:28492532
8768343	Suclg1	succinate-CoA ligase GDP/ADP-forming subunit alpha	gene	DOID:1324	lung cancer		ISO	RGD:731609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8768343	Suclg1	succinate-CoA ligase GDP/ADP-forming subunit alpha	gene	DOID:1826	epilepsy		ISO	RGD:731609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:20197121|PMID:25741868|PMID:26475597|PMID:28492532
8768343	Suclg1	succinate-CoA ligase GDP/ADP-forming subunit alpha	gene	DOID:1909	melanoma		ISO	RGD:731609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8768343	Suclg1	succinate-CoA ligase GDP/ADP-forming subunit alpha	gene	DOID:3650	lactic acidosis		ISO	RGD:731609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868
8768343	Suclg1	succinate-CoA ligase GDP/ADP-forming subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:731609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8768343	Suclg1	succinate-CoA ligase GDP/ADP-forming subunit alpha	gene	DOID:543	dystonia		ISO	RGD:731609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:20197121|PMID:25741868|PMID:26475597|PMID:28492532
8768343	Suclg1	succinate-CoA ligase GDP/ADP-forming subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768343	Suclg1	succinate-CoA ligase GDP/ADP-forming subunit alpha	gene	DOID:630	genetic disease		ISO	RGD:731609	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20453710|PMID:25741868|PMID:27484306|PMID:28492532
8768343	Suclg1	succinate-CoA ligase GDP/ADP-forming subunit alpha	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:731609	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8768343	Suclg1	succinate-CoA ligase GDP/ADP-forming subunit alpha	gene	DOID:9000918	Disease Progression		ISO	RGD:731609	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8768343	Suclg1	succinate-CoA ligase GDP/ADP-forming subunit alpha	gene	DOID:9001276	Failure to Thrive		ISO	RGD:731609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8768343	Suclg1	succinate-CoA ligase GDP/ADP-forming subunit alpha	gene	DOID:9004538	Hearing Loss		ISO	RGD:731609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8768343	Suclg1	succinate-CoA ligase GDP/ADP-forming subunit alpha	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
8768343	Suclg1	succinate-CoA ligase GDP/ADP-forming subunit alpha	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8768343	Suclg1	succinate-CoA ligase GDP/ADP-forming subunit alpha	gene	DOID:9008675	Dyskinesias		ISO	RGD:731609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:20197121|PMID:25741868|PMID:26475597|PMID:28492532
8768343	Suclg1	succinate-CoA ligase GDP/ADP-forming subunit alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8768360	Neurog1	neurogenin 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1352814	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
8768360	Neurog1	neurogenin 1	gene	DOID:9008019	CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY		ISO	RGD:1352814	D	RGD:7240710	20230920	OMIM			
8768360	Neurog1	neurogenin 1	gene	DOID:9008019	CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY		ISO	RGD:1352814	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay	PMID:25741868|PMID:32720330|PMID:33439489|PMID:36647078
8768365	Rbm18	RNA binding motif protein 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8768365	Rbm18	RNA binding motif protein 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8768365	Rbm18	RNA binding motif protein 18	gene	DOID:3275	thymoma		ISO	RGD:1316593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8768365	Rbm18	RNA binding motif protein 18	gene	DOID:4362	cervical cancer		ISO	RGD:1316593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8768365	Rbm18	RNA binding motif protein 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1316593	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8768365	Rbm18	RNA binding motif protein 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768365	Rbm18	RNA binding motif protein 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8768365	Rbm18	RNA binding motif protein 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8768375	Syp	synaptophysin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8768375	Syp	synaptophysin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768375	Syp	synaptophysin	gene	DOID:0110721	neuronal ceroid lipofuscinosis 1		ISO	RGD:737494	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21224254
8768375	Syp	synaptophysin	gene	DOID:0110729	neuronal ceroid lipofuscinosis 6A		ISO	RGD:737494	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23516525
8768375	Syp	synaptophysin	gene	DOID:0112035	non-syndromic X-linked intellectual disability 96		ISO	RGD:737494	D	RGD:7240710	20180130	OMIM			
8768375	Syp	synaptophysin	gene	DOID:0112035	non-syndromic X-linked intellectual disability 96		ISO	RGD:737494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96	PMID:25741868
8768375	Syp	synaptophysin	gene	DOID:10652	Alzheimer's disease		ISO	RGD:11373	D	RGD:9068941	20200609	RGD		denntate gyrus, hippocampus, entorhinal cortex	PMID:20847448|REF_RGD_ID:13506238
8768375	Syp	synaptophysin	gene	DOID:10652	Alzheimer's disease		ISO	RGD:3802	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:hippocampus, temporal cortex	PMID:20847448|REF_RGD_ID:13506238
8768375	Syp	synaptophysin	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737494	D	RGD:9068941	20200609	RGD		protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces:	PMID:20847448|REF_RGD_ID:13506238
8768375	Syp	synaptophysin	gene	DOID:10907	microcephaly		ISO	RGD:737494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8768375	Syp	synaptophysin	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:737494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8768375	Syp	synaptophysin	gene	DOID:12449	aplastic anemia		ISO	RGD:737494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aplastic anemia	PMID:25741868
8768375	Syp	synaptophysin	gene	DOID:12450	pancytopenia		ISO	RGD:737494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:25741868
8768375	Syp	synaptophysin	gene	DOID:12849	autistic disorder		ISO	RGD:737494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8768375	Syp	synaptophysin	gene	DOID:1574	alcohol use disorder	sexual_dimorphism	ISO	RGD:3802	D	RGD:9068941	20240201	RGD		associated with chronic stress in female rats	PMID:27894930|REF_RGD_ID:401959751
8768375	Syp	synaptophysin	gene	DOID:1909	melanoma		ISO	RGD:737494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8768375	Syp	synaptophysin	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:737494	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21595568
8768375	Syp	synaptophysin	gene	DOID:4702	mongolian spot		ISO	RGD:737494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	PMID:25741868
8768375	Syp	synaptophysin	gene	DOID:5419	schizophrenia		ISO	RGD:737494	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11483314
8768375	Syp	synaptophysin	gene	DOID:5463	cochlear disease		IEP		D	RGD:11554034|PMID:12429223	20161019	RGD			
8768375	Syp	synaptophysin	gene	DOID:630	genetic disease		ISO	RGD:737494	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8768375	Syp	synaptophysin	gene	DOID:8927	learning disability		ISO	RGD:737494	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21295146
8768375	Syp	synaptophysin	gene	DOID:9001131	stress-related disorder	sexual_dimorphism	ISO	RGD:3802	D	RGD:9068941	20240201	RGD			PMID:27894930|REF_RGD_ID:401959751
8768375	Syp	synaptophysin	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:737494	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19377476
8768375	Syp	synaptophysin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768375	Syp	synaptophysin	gene	DOID:9008023	Memory Disorders		ISO	RGD:737494	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21295146
8768375	Syp	synaptophysin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:737494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8768386	Stmn2	stathmin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:69000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768386	Stmn2	stathmin 2	gene	DOID:2477	motor peripheral neuropathy		ISO	RGD:732607	D	RGD:9068941	20230914	MouseDO			
8768386	Stmn2	stathmin 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:732607	D	RGD:9068941	20230914	MouseDO			
8768386	Stmn2	stathmin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:69000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8768386	Stmn2	stathmin 2	gene	DOID:870	neuropathy		ISO	RGD:732607	D	RGD:9068941	20230914	MouseDO			
8768386	Stmn2	stathmin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768400	Kcnk4	potassium two pore domain channel subfamily K member 4	gene	DOID:9006075	Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome		ISO	RGD:733987	D	RGD:7240710	20190424	OMIM			
8768436	Dpy19l4	dpy-19 like 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8768436	Dpy19l4	dpy-19 like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768436	Dpy19l4	dpy-19 like 4	gene	DOID:10534	stomach cancer		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8768436	Dpy19l4	dpy-19 like 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8768436	Dpy19l4	dpy-19 like 4	gene	DOID:1115	sarcoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8768436	Dpy19l4	dpy-19 like 4	gene	DOID:1324	lung cancer		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8768436	Dpy19l4	dpy-19 like 4	gene	DOID:1909	melanoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8768436	Dpy19l4	dpy-19 like 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8768436	Dpy19l4	dpy-19 like 4	gene	DOID:4362	cervical cancer		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8768436	Dpy19l4	dpy-19 like 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8768436	Dpy19l4	dpy-19 like 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1606660	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8768436	Dpy19l4	dpy-19 like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768436	Dpy19l4	dpy-19 like 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8768436	Dpy19l4	dpy-19 like 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8768436	Dpy19l4	dpy-19 like 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768436	Dpy19l4	dpy-19 like 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8768436	Dpy19l4	dpy-19 like 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8768459	Armc10	armadillo repeat containing 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8768459	Armc10	armadillo repeat containing 10	gene	DOID:1115	sarcoma		ISO	RGD:1605608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8768459	Armc10	armadillo repeat containing 10	gene	DOID:1909	melanoma		ISO	RGD:1605608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8768459	Armc10	armadillo repeat containing 10	gene	DOID:4362	cervical cancer		ISO	RGD:1605608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8768459	Armc10	armadillo repeat containing 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768459	Armc10	armadillo repeat containing 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8768459	Armc10	armadillo repeat containing 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8768459	Armc10	armadillo repeat containing 10	gene	DOID:9256	colorectal cancer		ISO	RGD:1605608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8768483	Dlgap3	DLG associated protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1347439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8768483	Dlgap3	DLG associated protein 3	gene	DOID:1909	melanoma		ISO	RGD:1347439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8768483	Dlgap3	DLG associated protein 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1347439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8768483	Dlgap3	DLG associated protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1347439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8768483	Dlgap3	DLG associated protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1347439	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8768483	Dlgap3	DLG associated protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768483	Dlgap3	DLG associated protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768500	Tyrobp	transmembrane immune signaling adaptor TYROBP	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768500	Tyrobp	transmembrane immune signaling adaptor TYROBP	gene	DOID:0080855	Parkinsonism		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29930232|PMID:9536098
8768500	Tyrobp	transmembrane immune signaling adaptor TYROBP	gene	DOID:0090112	Nasu-Hakola disease		ISO	RGD:1351113	D	RGD:7240710	20180130	OMIM			
8768500	Tyrobp	transmembrane immune signaling adaptor TYROBP	gene	DOID:0090112	Nasu-Hakola disease		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 | ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | ClinVar Annotator: match by term: TYROBP-related condition	PMID:10888890|PMID:11109371|PMID:12370476|PMID:17125796|PMID:25741868|PMID:27658901|PMID:28492532|PMID:28620717|PMID:28716534|PMID:31996268|PMID:36133075
8768500	Tyrobp	transmembrane immune signaling adaptor TYROBP	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8768500	Tyrobp	transmembrane immune signaling adaptor TYROBP	gene	DOID:1307	dementia		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dementia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29930232|PMID:9536098
8768500	Tyrobp	transmembrane immune signaling adaptor TYROBP	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8768500	Tyrobp	transmembrane immune signaling adaptor TYROBP	gene	DOID:409	liver disease		ISO	RGD:1351113	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12651611
8768500	Tyrobp	transmembrane immune signaling adaptor TYROBP	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768500	Tyrobp	transmembrane immune signaling adaptor TYROBP	gene	DOID:630	genetic disease		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8768500	Tyrobp	transmembrane immune signaling adaptor TYROBP	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8768500	Tyrobp	transmembrane immune signaling adaptor TYROBP	gene	DOID:7148	rheumatoid arthritis	treatment	ISO	RGD:1303081	D	RGD:9068941	20210604	RGD			PMID:27049384|REF_RGD_ID:127229930
8768500	Tyrobp	transmembrane immune signaling adaptor TYROBP	gene	DOID:9000495	Tremor		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Action tremor	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29930232|PMID:9536098
8768500	Tyrobp	transmembrane immune signaling adaptor TYROBP	gene	DOID:9000831	Hypokinesia		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradykinesia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29930232|PMID:9536098
8768500	Tyrobp	transmembrane immune signaling adaptor TYROBP	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1351113	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8768500	Tyrobp	transmembrane immune signaling adaptor TYROBP	gene	DOID:9008023	Memory Disorders		ISO	RGD:1351113	D	RGD:8554872	20240402	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29930232|PMID:9536098
8768500	Tyrobp	transmembrane immune signaling adaptor TYROBP	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29930232|PMID:9536098
8768500	Tyrobp	transmembrane immune signaling adaptor TYROBP	gene	DOID:9009089	Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly	
8768515	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768515	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:0111952	immunodeficiency 57		ISO	RGD:1320896	D	RGD:7240710	20190410	OMIM			
8768515	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:0111952	immunodeficiency 57		ISO	RGD:1320896	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION | ClinVar Annotator: match by term: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome | ClinVar Annotator: match by term: Immunodeficiency 57	PMID:25741868|PMID:28492532|PMID:30591564|PMID:32181283|PMID:36466854|PMID:36939041
8768515	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:0111962	combined immunodeficiency		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency	PMID:25741868|PMID:28492532|PMID:30591564|PMID:32181283|PMID:36466854|PMID:36939041
8768515	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320897	D	RGD:9068941	20200609	RGD			PMID:22908283|REF_RGD_ID:7777166
8768515	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:30591564|PMID:32181283|PMID:36466854|PMID:36939041
8768515	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:13250	diarrhea		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:25741868|PMID:28492532|PMID:30591564|PMID:32181283|PMID:36466854|PMID:36939041
8768515	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1320896	D	RGD:9068941	20200609	RGD			PMID:19778795|REF_RGD_ID:7777170
8768515	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:1826	epilepsy	ameliorates	ISO	RGD:1310158	D	RGD:9068941	20230216	RGD			PMID:32308116|REF_RGD_ID:156420143
8768515	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
8768515	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768515	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:630	genetic disease		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:31827280|PMID:31827281|PMID:35716229
8768515	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8768515	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:820	myocarditis		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myocarditis	PMID:25741868|PMID:28492532|PMID:30591564|PMID:32181283|PMID:36466854|PMID:36939041
8768515	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:9004604	Autoinflammation with Episodic Fever and Lymphadenopathy		ISO	RGD:1320896	D	RGD:7240710	20200708	OMIM			
8768515	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:9004604	Autoinflammation with Episodic Fever and Lymphadenopathy		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY | ClinVar Annotator: match by term: Autoinflammation with episodic fever and lymphadenopathy | ClinVar Annotator: match by term: RIPK1-related condition	PMID:25741868|PMID:28492532|PMID:30591564|PMID:31827280|PMID:31827281|PMID:32181283|PMID:35716229|PMID:36466854|PMID:36939041
8768515	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:25741868|PMID:28492532|PMID:30591564|PMID:32181283|PMID:36466854|PMID:36939041
8768515	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768515	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8768515	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8768515	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:9201	lichen planus		ISO	RGD:1320896	D	RGD:9068941	20200609	RGD			PMID:20368033|REF_RGD_ID:7777168
8768533	P2ry2	purinergic receptor P2Y2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8768533	P2ry2	purinergic receptor P2Y2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768533	P2ry2	purinergic receptor P2Y2	gene	DOID:1875	impotence		ISO	RGD:62088	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:19303093|REF_RGD_ID:2315809
8768533	P2ry2	purinergic receptor P2Y2	gene	DOID:4362	cervical cancer		ISO	RGD:1352486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8768533	P2ry2	purinergic receptor P2Y2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768533	P2ry2	purinergic receptor P2Y2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1352486	D	RGD:9068941	20250508	CTD		CTD Direct Evidence: marker/mechanism	PMID:26070527
8768533	P2ry2	purinergic receptor P2Y2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768533	P2ry2	purinergic receptor P2Y2	gene	DOID:9007993	Dehydration		ISO	RGD:62088	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:inner renal medulla	PMID:15687250|REF_RGD_ID:2316687
8768556	Slc6a7	solute carrier family 6 member 7	gene	DOID:10534	stomach cancer		ISO	RGD:734004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8768556	Slc6a7	solute carrier family 6 member 7	gene	DOID:1324	lung cancer		ISO	RGD:734004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8768556	Slc6a7	solute carrier family 6 member 7	gene	DOID:3275	thymoma		ISO	RGD:734004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8768556	Slc6a7	solute carrier family 6 member 7	gene	DOID:4362	cervical cancer		ISO	RGD:734004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8768556	Slc6a7	solute carrier family 6 member 7	gene	DOID:5041	esophageal cancer		ISO	RGD:734004	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8768580	Kmo	kynurenine 3-monooxygenase	gene	DOID:0080204	renal hypoplasia		ISO	RGD:737300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868
8768580	Kmo	kynurenine 3-monooxygenase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:737300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital sensorineural hearing impairment	PMID:25741868
8768580	Kmo	kynurenine 3-monooxygenase	gene	DOID:10534	stomach cancer		ISO	RGD:737300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8768580	Kmo	kynurenine 3-monooxygenase	gene	DOID:1596	depressive disorder		ISO	RGD:620610	D	RGD:9068941	20200609	RGD		protein:decreased activity:plasma	PMID:29217494|REF_RGD_ID:13703051
8768580	Kmo	kynurenine 3-monooxygenase	gene	DOID:1909	melanoma		ISO	RGD:737300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8768580	Kmo	kynurenine 3-monooxygenase	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:737300	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
8768580	Kmo	kynurenine 3-monooxygenase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8768580	Kmo	kynurenine 3-monooxygenase	gene	DOID:5419	schizophrenia		ISO	RGD:737300	D	RGD:9068941	20200609	RGD		protein:decreased activity:brain:	PMID:21036897|REF_RGD_ID:13513905
8768580	Kmo	kynurenine 3-monooxygenase	gene	DOID:5419	schizophrenia	treatment	ISO	RGD:620610	D	RGD:9068941	20200609	RGD			PMID:29030243|REF_RGD_ID:13703052
8768580	Kmo	kynurenine 3-monooxygenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768580	Kmo	kynurenine 3-monooxygenase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8768580	Kmo	kynurenine 3-monooxygenase	gene	DOID:6406	double outlet right ventricle		ISO	RGD:737300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Double outlet right ventricle	PMID:25741868
8768580	Kmo	kynurenine 3-monooxygenase	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:620610	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:spinal cord:	PMID:26524415|REF_RGD_ID:13703043
8768580	Kmo	kynurenine 3-monooxygenase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737300	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8768580	Kmo	kynurenine 3-monooxygenase	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:620610	D	RGD:9068941	20200609	RGD			PMID:26524415|REF_RGD_ID:13703043
8768580	Kmo	kynurenine 3-monooxygenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768580	Kmo	kynurenine 3-monooxygenase	gene	DOID:9007558	Acute Experimental Pancreatitis	disease_progression	ISO	RGD:620610	D	RGD:9068941	20200609	RGD			PMID:28398044|REF_RGD_ID:13703053
8768580	Kmo	kynurenine 3-monooxygenase	gene	DOID:9007558	Acute Experimental Pancreatitis	disease_progression	ISO	RGD:734253	D	RGD:9068941	20200609	RGD			PMID:26752518|REF_RGD_ID:11342439
8768580	Kmo	kynurenine 3-monooxygenase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:0050840	cervical dystonia		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868|PMID:28492532|PMID:31607746
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:0050952	spastic ataxia		ISO	RGD:1606754	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:28492532|PMID:31847883|PMID:34445196
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:0080068	Charcot-Marie-Tooth disease type 6		ISO	RGD:1332229	D	RGD:9068941	20220825	MouseDO		OMIM:601152 | OMIM:616505	
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:0112330	pontocerebellar hypoplasia type 1E		ISO	RGD:1606754	D	RGD:7240710	20210526	OMIM			
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:0112330	pontocerebellar hypoplasia type 1E		ISO	RGD:1606754	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 1E | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1E	PMID:16199547|PMID:17576681|PMID:25741868|PMID:26168012|PMID:26951855|PMID:27543974|PMID:28492532|PMID:28653766|PMID:9536098
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:1059	intellectual disability		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1606754	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:28492532
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:11162	respiratory failure		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:25741868|PMID:28492532|PMID:31607746
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:1143	exotropia		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:28492532|PMID:31607746
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:11830	myopia		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:1324	lung cancer		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:1826	epilepsy		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:31607746
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:1909	melanoma		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:3275	thymoma		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:4362	cervical cancer		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:5723	optic atrophy		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532|PMID:31607746
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:630	genetic disease		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:26168012|PMID:26951855|PMID:27543974|PMID:28369803|PMID:28492532|PMID:28558379|PMID:31847883|PMID:32259769|PMID:34445196|PMID:9536098
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:6364	migraine		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868|PMID:28492532|PMID:31607746
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:8446	intussusception		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intussusception	PMID:25741868|PMID:28492532|PMID:31607746
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:8501	fundus dystrophy		ISO	RGD:1606754	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:9000343	Vision Disorders		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:28492532|PMID:31607746
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:9000972	Fever		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	PMID:25741868|PMID:28492532|PMID:31607746
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:9001031	Retrognathia		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:28492532|PMID:31607746
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25741868|PMID:28492532|PMID:31607746
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868|PMID:28492532|PMID:31607746
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:25741868|PMID:28492532|PMID:31607746
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868|PMID:28492532|PMID:31607746
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532|PMID:31607746
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:28492532|PMID:31607746
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:9007722	Myoclonus		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868|PMID:28492532|PMID:31607746
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:31607746
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:9008385	Vomiting		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868|PMID:28492532|PMID:31607746
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:9008547	Charcot-Marie-Tooth Disease Type 6B		ISO	RGD:1606754	D	RGD:7240710	20190911	OMIM			
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:9008547	Charcot-Marie-Tooth Disease Type 6B		ISO	RGD:1606754	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY | ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, type VIB | ClinVar Annotator: match by term: SLC25A46-related condition	PMID:17576681|PMID:25741868|PMID:26168012|PMID:26951855|PMID:27543974|PMID:28369803|PMID:28492532|PMID:28558379|PMID:30178502|PMID:31607746|PMID:31847883|PMID:32259769|PMID:33841295|PMID:34445196|PMID:9536098
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:9008675	Dyskinesias		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:25741868|PMID:28492532|PMID:31607746
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:9256	colorectal cancer		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8768599	Slc25a46	solute carrier family 25 member 46	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532|PMID:31607746
8768611	Nup214	nucleoporin 214	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8768611	Nup214	nucleoporin 214	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768611	Nup214	nucleoporin 214	gene	DOID:10534	stomach cancer		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8768611	Nup214	nucleoporin 214	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8768611	Nup214	nucleoporin 214	gene	DOID:1115	sarcoma		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8768611	Nup214	nucleoporin 214	gene	DOID:1324	lung cancer		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8768611	Nup214	nucleoporin 214	gene	DOID:1909	melanoma		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8768611	Nup214	nucleoporin 214	gene	DOID:4362	cervical cancer		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8768611	Nup214	nucleoporin 214	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8768611	Nup214	nucleoporin 214	gene	DOID:5041	esophageal cancer		ISO	RGD:1316779	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8768611	Nup214	nucleoporin 214	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768611	Nup214	nucleoporin 214	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8768611	Nup214	nucleoporin 214	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8768611	Nup214	nucleoporin 214	gene	DOID:9001487	Facies		ISO	RGD:1316779	D	RGD:8554872	20221018	ClinVar		ClinVar Annotator: match by term: Facial dysmorphism	
8768611	Nup214	nucleoporin 214	gene	DOID:9002011	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9		ISO	RGD:1316779	D	RGD:7240710	20260617	OMIM			
8768611	Nup214	nucleoporin 214	gene	DOID:9002011	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9		ISO	RGD:1316779	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 9 | ClinVar Annotator: match by term: encephalopathy, acute, infection-induced, susceptibility to, 9	PMID:25741868|PMID:31178128
8768611	Nup214	nucleoporin 214	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768611	Nup214	nucleoporin 214	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8768611	Nup214	nucleoporin 214	gene	DOID:9008582	Developmental Disease		ISO	RGD:1316779	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8768611	Nup214	nucleoporin 214	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8768611	Nup214	nucleoporin 214	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316779	D	RGD:7240710	20260617	OMIM			
8768611	Nup214	nucleoporin 214	gene	DOID:936	brain disease		ISO	RGD:1316779	D	RGD:8554872	20230502	ClinVar		ClinVar Annotator: match by term: Neonatal encephalopathy	PMID:25741868
8768611	Nup214	nucleoporin 214	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1316779	D	RGD:7240710	20260617	OMIM			
8768611	Nup214	nucleoporin 214	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1316779	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Acute lymphoid leukemia	PMID:25741868
8768659	Thap12	THAP domain containing 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8768659	Thap12	THAP domain containing 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768659	Thap12	THAP domain containing 12	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1320154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8768659	Thap12	THAP domain containing 12	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8768659	Thap12	THAP domain containing 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768678	Ints5	integrator complex subunit 5	gene	DOID:1909	melanoma		ISO	RGD:1603295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8768678	Ints5	integrator complex subunit 5	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8768683	Veph1	ventricular zone expressed PH domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8768683	Veph1	ventricular zone expressed PH domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8768683	Veph1	ventricular zone expressed PH domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1353776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8768683	Veph1	ventricular zone expressed PH domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1353776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8768683	Veph1	ventricular zone expressed PH domain containing 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1353776	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	
8768683	Veph1	ventricular zone expressed PH domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8768683	Veph1	ventricular zone expressed PH domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8768683	Veph1	ventricular zone expressed PH domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768683	Veph1	ventricular zone expressed PH domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768683	Veph1	ventricular zone expressed PH domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8768717	Trub2	TruB pseudouridine synthase family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8768717	Trub2	TruB pseudouridine synthase family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768717	Trub2	TruB pseudouridine synthase family member 2	gene	DOID:3275	thymoma		ISO	RGD:1346955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8768717	Trub2	TruB pseudouridine synthase family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1346955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8768717	Trub2	TruB pseudouridine synthase family member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8768717	Trub2	TruB pseudouridine synthase family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8768717	Trub2	TruB pseudouridine synthase family member 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1346955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8768717	Trub2	TruB pseudouridine synthase family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768729	Slc7a10	solute carrier family 7 member 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8768729	Slc7a10	solute carrier family 7 member 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731925	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768729	Slc7a10	solute carrier family 7 member 10	gene	DOID:1115	sarcoma		ISO	RGD:731925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8768729	Slc7a10	solute carrier family 7 member 10	gene	DOID:1324	lung cancer		ISO	RGD:731925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8768729	Slc7a10	solute carrier family 7 member 10	gene	DOID:1909	melanoma		ISO	RGD:731925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8768729	Slc7a10	solute carrier family 7 member 10	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8768729	Slc7a10	solute carrier family 7 member 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768755	LOC102025968	cytochrome c oxidase assembly factor 3 homolog, mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768755	LOC102025968	cytochrome c oxidase assembly factor 3 homolog, mitochondrial	gene	DOID:0070491	mitochondrial complex IV deficiency nuclear type 1		ISO	RGD:1606307	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1	PMID:25604084|PMID:28492532|PMID:36344503
8768755	LOC102025968	cytochrome c oxidase assembly factor 3 homolog, mitochondrial	gene	DOID:0070499	mitochondrial complex IV deficiency nuclear type 14		ISO	RGD:1606307	D	RGD:7240710	20201111	OMIM			
8768755	LOC102025968	cytochrome c oxidase assembly factor 3 homolog, mitochondrial	gene	DOID:0070499	mitochondrial complex IV deficiency nuclear type 14		ISO	RGD:1606307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COA3-related condition | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 14	PMID:25741868|PMID:28492532
8768755	LOC102025968	cytochrome c oxidase assembly factor 3 homolog, mitochondrial	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1606307	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8768761	Exoc5	exocyst complex component 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8768761	Exoc5	exocyst complex component 5	gene	DOID:0070314	obstructive nephropathy		ISO	RGD:1622168	D	RGD:9068941	20220825	MouseDO			
8768761	Exoc5	exocyst complex component 5	gene	DOID:10534	stomach cancer		ISO	RGD:731494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8768761	Exoc5	exocyst complex component 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8768761	Exoc5	exocyst complex component 5	gene	DOID:1324	lung cancer		ISO	RGD:731494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8768761	Exoc5	exocyst complex component 5	gene	DOID:3275	thymoma		ISO	RGD:731494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8768761	Exoc5	exocyst complex component 5	gene	DOID:4362	cervical cancer		ISO	RGD:731494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8768761	Exoc5	exocyst complex component 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8768761	Exoc5	exocyst complex component 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8768761	Exoc5	exocyst complex component 5	gene	DOID:5041	esophageal cancer		ISO	RGD:731494	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8768761	Exoc5	exocyst complex component 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768761	Exoc5	exocyst complex component 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8768761	Exoc5	exocyst complex component 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8768761	Exoc5	exocyst complex component 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8768783	Nt5c1a	5'-nucleotidase, cytosolic IA	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8768783	Nt5c1a	5'-nucleotidase, cytosolic IA	gene	DOID:10534	stomach cancer		ISO	RGD:1322084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8768783	Nt5c1a	5'-nucleotidase, cytosolic IA	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8768783	Nt5c1a	5'-nucleotidase, cytosolic IA	gene	DOID:1909	melanoma		ISO	RGD:1322084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:10908	hydrocephalus		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:34400813
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:3275	thymoma		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604365	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:630	genetic disease		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27523597|PMID:28492532|PMID:31705601|PMID:31785789|PMID:33826954|PMID:34400813|PMID:34758253|PMID:34930847|PMID:39860040
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9000777	Mitochondrial Cardiomyopathy		ISO	RGD:1604365	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial	PMID:25741868
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum agenesis	PMID:24033266|PMID:25741868|PMID:27523597|PMID:27523598|PMID:28492532|PMID:30384889|PMID:33028643|PMID:34400813
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9003269	Sudden Cardiac Failure, Infantile		ISO	RGD:1604365	D	RGD:7240710	20190315	OMIM			
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9003269	Sudden Cardiac Failure, Infantile		ISO	RGD:1604365	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PPA2-Related Disorders | ClinVar Annotator: match by term: SUDDEN CARDIAC FAILURE, INFANTILE | ClinVar Annotator: match by term: Sudden cardiac failure, infantile | ClinVar Annotator: match by term: mitochondrial cardiomyopathy and sudden cardiac failure	PMID:25741868|PMID:27523597|PMID:28492532|PMID:31705601|PMID:33826954|PMID:34400813|PMID:34758253|PMID:34930847|PMID:39860040
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9004710	Alcohol-Induced Sudden Cardiac Failure		ISO	RGD:1604365	D	RGD:7240710	20190315	OMIM			
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9004710	Alcohol-Induced Sudden Cardiac Failure		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PPA2-related condition | ClinVar Annotator: match by term: Sudden cardiac failure, alcohol-induced	PMID:25741868|PMID:27523597|PMID:28492532|PMID:31705601|PMID:33826954|PMID:34400813|PMID:34758253|PMID:34930847|PMID:39860040
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:34400813
8768814	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8768829	Ccndbp1	cyclin D1 binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8768829	Ccndbp1	cyclin D1 binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768829	Ccndbp1	cyclin D1 binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8768829	Ccndbp1	cyclin D1 binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1312246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8768829	Ccndbp1	cyclin D1 binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8768829	Ccndbp1	cyclin D1 binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312246	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8768829	Ccndbp1	cyclin D1 binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768829	Ccndbp1	cyclin D1 binding protein 1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1312246	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16501603
8768829	Ccndbp1	cyclin D1 binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8768829	Ccndbp1	cyclin D1 binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8768844	Kat5	lysine acetyltransferase 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8768844	Kat5	lysine acetyltransferase 5	gene	DOID:1115	sarcoma		ISO	RGD:732354	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8768844	Kat5	lysine acetyltransferase 5	gene	DOID:11758	iron deficiency anemia		ISO	RGD:621061	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus (rat)	PMID:18723004|REF_RGD_ID:2301196
8768844	Kat5	lysine acetyltransferase 5	gene	DOID:1324	lung cancer		ISO	RGD:732354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8768844	Kat5	lysine acetyltransferase 5	gene	DOID:1612	breast cancer	severity	ISO	RGD:732354	D	RGD:9068941	20200609	RGD		mRNA:altered expression:breast (human)	PMID:22199269|REF_RGD_ID:9586031
8768844	Kat5	lysine acetyltransferase 5	gene	DOID:1790	malignant mesothelioma		ISO	RGD:732354	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: therapeutic	PMID:26780987
8768844	Kat5	lysine acetyltransferase 5	gene	DOID:1909	melanoma		ISO	RGD:732354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8768844	Kat5	lysine acetyltransferase 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8768844	Kat5	lysine acetyltransferase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768844	Kat5	lysine acetyltransferase 5	gene	DOID:707	B-cell lymphoma	severity	ISO	RGD:1550306	D	RGD:9068941	20200609	RGD			PMID:17728759|REF_RGD_ID:9588481
8768844	Kat5	lysine acetyltransferase 5	gene	DOID:9000615	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES		ISO	RGD:732354	D	RGD:7240710	20210120	OMIM			
8768844	Kat5	lysine acetyltransferase 5	gene	DOID:9000615	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES		ISO	RGD:732354	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: KAT5-related disorder | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	PMID:25741868|PMID:28035283|PMID:32822602
8768844	Kat5	lysine acetyltransferase 5	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732354	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas, nucleus (human)	PMID:23056207|REF_RGD_ID:9588480
8768844	Kat5	lysine acetyltransferase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768871	Cdca4	cell division cycle associated 4	gene	DOID:1324	lung cancer		ISO	RGD:1348557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8768871	Cdca4	cell division cycle associated 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1348557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8768883	Vstm4	V-set and transmembrane domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8768883	Vstm4	V-set and transmembrane domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768883	Vstm4	V-set and transmembrane domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1321317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8768883	Vstm4	V-set and transmembrane domain containing 4	gene	DOID:3070	high grade glioma		ISO	RGD:1321317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8768883	Vstm4	V-set and transmembrane domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768883	Vstm4	V-set and transmembrane domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768883	Vstm4	V-set and transmembrane domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0050817	Stargardt disease		ISO	RGD:1606119	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: STGD	PMID:25333361|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32581362
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0070280	primary autosomal recessive microcephaly 5		ISO	RGD:1606119	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive	PMID:25741868
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0110722	neuronal ceroid lipofuscinosis 7		ISO	RGD:1606119	D	RGD:7240710	20180130	OMIM			
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0110722	neuronal ceroid lipofuscinosis 7		ISO	RGD:1606119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 7 | ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 7 | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 7 | ClinVar Annotator: match by term: MFSD8-related condition | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7	PMID:16199547|PMID:17564970|PMID:17576681|PMID:18850119|PMID:19177532|PMID:19201763|PMID:19277732|PMID:20826447|PMID:21990111|PMID:22668694|PMID:25227500|PMID:25333361|PMID:25439737|PMID:25640679|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:27146152|PMID:27848944|PMID:28041643|PMID:28492532|PMID:28586915|PMID:28708303|PMID:28794409|PMID:29655203|PMID:29924869|PMID:30382371|PMID:30548430|PMID:31006324|PMID:31105743|PMID:31440721|PMID:31489614|PMID:31597037|PMID:31721179|PMID:32005694|PMID:32037395|PMID:32399599|PMID:35457110|PMID:35917699|PMID:36374771|PMID:36435927|PMID:36972931|PMID:37090936|PMID:37250406|PMID:38468460|PMID:39108195|PMID:9177532|PMID:9536098
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1606119	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis	PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:33546218
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1606119	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:33546218
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1606119	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:30382371|PMID:31489614|PMID:32399599|PMID:33546218
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1606119	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Jansky-Bielschowsky disease | ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:25741915|PMID:25741916|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:30382371|PMID:31489614|PMID:32399599|PMID:33546218|PMID:34828358
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1606119	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Jansky-Bielschowsky disease | ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis	PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:28758139|PMID:30382371|PMID:31489614|PMID:32399599|PMID:33546218|PMID:34828358|PMID:35457110|PMID:36972931
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1606119	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Jansky-Bielschowsky disease | ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28586915|PMID:28600779|PMID:28758139|PMID:30215852|PMID:30382371|PMID:31489614|PMID:32399599|PMID:33546218|PMID:34426522|PMID:34828358|PMID:35457110|PMID:36972931
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1606119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Jansky-Bielschowsky disease | ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis	PMID:16199547|PMID:17564970|PMID:17576681|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22612257|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25333361|PMID:25439737|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:27848944|PMID:28041643|PMID:28492532|PMID:28586915|PMID:28600779|PMID:28708303|PMID:29389947|PMID:29655203|PMID:30382371|PMID:31006324|PMID:31069529|PMID:31216804|PMID:31489614|PMID:31589614|PMID:31618753|PMID:31741823|PMID:32005694|PMID:32037395|PMID:32399599|PMID:32581362|PMID:33084218|PMID:33546218|PMID:34469436|PMID:34849271|PMID:34888859|PMID:34910516|PMID:35087090|PMID:35457110|PMID:36801247|PMID:36912596|PMID:37250406|PMID:38659533|PMID:39062705|PMID:39563673|PMID:39675099|PMID:40327886|PMID:9536098
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1606119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:17564970|PMID:25741868|PMID:39108195
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1606119	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:25333361|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32581362
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:1059	intellectual disability		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:30382371
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:10907	microcephaly		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:30382371
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:11832	visual epilepsy		ISO	RGD:1606119	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:18414213|PMID:19277732|PMID:21990111|PMID:22668694|PMID:25227500|PMID:25333361|PMID:25741868|PMID:26467025|PMID:26681805|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28586915|PMID:29924869|PMID:31006324|PMID:32581362|PMID:33546218
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:12849	autistic disorder		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532|PMID:30382371
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1606119	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:19201763|PMID:19277732|PMID:22668694|PMID:25333361|PMID:25741868|PMID:26075876|PMID:28041643|PMID:28492532|PMID:28586915|PMID:28708303|PMID:31006324|PMID:31741823|PMID:32037395|PMID:32581362|PMID:34910516|PMID:35087090
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1606119	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Jansky-Bielschowsky disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:18850119|PMID:19201763|PMID:19277732|PMID:20826447|PMID:21990111|PMID:22668694|PMID:25227500|PMID:25333361|PMID:25741868|PMID:26075876|PMID:26681805|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28708303|PMID:29655203|PMID:31006324|PMID:31741823|PMID:32037395|PMID:32581362|PMID:33546218|PMID:34828358|PMID:34910516|PMID:35087090|PMID:37074398
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1606119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:17564970|PMID:18850119|PMID:20826447|PMID:25741868|PMID:28492532|PMID:29655203|PMID:37074398|PMID:39108195
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:1826	epilepsy		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:30382371
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:4362	cervical cancer		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1606119	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:5679	retinal disease		ISO	RGD:1606119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:25227500|PMID:25741868|PMID:26681805|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28586915|PMID:30215852|PMID:30382371|PMID:33546218|PMID:34426522|PMID:35801630
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:630	genetic disease		ISO	RGD:1606119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17564970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30382371|PMID:39108195
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:8501	fundus dystrophy		ISO	RGD:1606119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:19177532|PMID:25227500|PMID:25741868|PMID:28492532|PMID:28586915|PMID:30543658|PMID:36909829
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1606119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:17564970|PMID:25741868|PMID:39108195
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:9004170	Macular Dystrophy with Central Cone Involvement		ISO	RGD:1606119	D	RGD:7240710	20180130	OMIM			
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:9004170	Macular Dystrophy with Central Cone Involvement		ISO	RGD:1606119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Macular dystrophy with central cone involvement	PMID:16199547|PMID:19177532|PMID:25227500|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28586915|PMID:30382371|PMID:33546218|PMID:35457110
8768901	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:9004866	Ataxia		ISO	RGD:1606119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Limb ataxia	PMID:17564970|PMID:25741868|PMID:39108195
8768925	Doc2b	double C2 domain beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8768925	Doc2b	double C2 domain beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8768942	Sowahd	sosondowah ankyrin repeat domain family member D	gene	DOID:0080600	COVID-19		ISO	RGD:1606099	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8768951	Klhl2	kelch like family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768951	Klhl2	kelch like family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8768951	Klhl2	kelch like family member 2	gene	DOID:1909	melanoma		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8768951	Klhl2	kelch like family member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8768951	Klhl2	kelch like family member 2	gene	DOID:3070	high grade glioma		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8768951	Klhl2	kelch like family member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8768951	Klhl2	kelch like family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768951	Klhl2	kelch like family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8768951	Klhl2	kelch like family member 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8768951	Klhl2	kelch like family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768951	Klhl2	kelch like family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8768951	Klhl2	kelch like family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8768970	Nelfb	negative elongation factor complex member B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603677	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8768970	Nelfb	negative elongation factor complex member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768970	Nelfb	negative elongation factor complex member B	gene	DOID:10534	stomach cancer		ISO	RGD:1603677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8768970	Nelfb	negative elongation factor complex member B	gene	DOID:1909	melanoma		ISO	RGD:1603677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8768970	Nelfb	negative elongation factor complex member B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8768970	Nelfb	negative elongation factor complex member B	gene	DOID:3275	thymoma		ISO	RGD:1603677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8768970	Nelfb	negative elongation factor complex member B	gene	DOID:4362	cervical cancer		ISO	RGD:1603677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8768970	Nelfb	negative elongation factor complex member B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8768970	Nelfb	negative elongation factor complex member B	gene	DOID:5041	esophageal cancer		ISO	RGD:1603677	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8768970	Nelfb	negative elongation factor complex member B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8768970	Nelfb	negative elongation factor complex member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768970	Nelfb	negative elongation factor complex member B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8768970	Nelfb	negative elongation factor complex member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8768987	Hes3	hes family bHLH transcription factor 3	gene	DOID:3275	thymoma		ISO	RGD:1604433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8768992	Dhfr	dihydrofolate reductase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8768992	Dhfr	dihydrofolate reductase	gene	DOID:0070309	absence epilepsy		ISO	RGD:736871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	
8768992	Dhfr	dihydrofolate reductase	gene	DOID:12450	pancytopenia		ISO	RGD:736871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21310276
8768992	Dhfr	dihydrofolate reductase	gene	DOID:12849	autistic disorder		ISO	RGD:736871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17597297
8768992	Dhfr	dihydrofolate reductase	gene	DOID:1324	lung cancer		ISO	RGD:736871	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Lung cancer, somatic	PMID:28492532
8768992	Dhfr	dihydrofolate reductase	gene	DOID:13382	megaloblastic anemia		ISO	RGD:736871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21310276|PMID:21310277
8768992	Dhfr	dihydrofolate reductase	gene	DOID:14026	folic acid deficiency anemia		ISO	RGD:736871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21310277
8768992	Dhfr	dihydrofolate reductase	gene	DOID:1588	thrombocytopenia		ISO	RGD:736871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	
8768992	Dhfr	dihydrofolate reductase	gene	DOID:3347	osteosarcoma		ISO	RGD:736871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19159907
8768992	Dhfr	dihydrofolate reductase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:736871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8768992	Dhfr	dihydrofolate reductase	gene	DOID:5041	esophageal cancer		ISO	RGD:736871	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8768992	Dhfr	dihydrofolate reductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8768992	Dhfr	dihydrofolate reductase	gene	DOID:630	genetic disease		ISO	RGD:736871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8768992	Dhfr	dihydrofolate reductase	gene	DOID:655	inherited metabolic disorder		ISO	RGD:736871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21310276|PMID:21310277
8768992	Dhfr	dihydrofolate reductase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736871	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer	PMID:28492532
8768992	Dhfr	dihydrofolate reductase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8768992	Dhfr	dihydrofolate reductase	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23897011
8768992	Dhfr	dihydrofolate reductase	gene	DOID:863	nervous system disease		ISO	RGD:736871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21064136|PMID:21310277
8768992	Dhfr	dihydrofolate reductase	gene	DOID:8692	myeloid leukemia		ISO	RGD:10471	D	RGD:9068941	20200609	RGD			PMID:12649191|REF_RGD_ID:11039541
8768992	Dhfr	dihydrofolate reductase	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:736871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19159907
8768992	Dhfr	dihydrofolate reductase	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:2500	D	RGD:9068941	20200609	RGD			PMID:8149482|REF_RGD_ID:11040442
8768992	Dhfr	dihydrofolate reductase	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:736871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8768992	Dhfr	dihydrofolate reductase	gene	DOID:9003312	Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency		ISO	RGD:736871	D	RGD:7240710	20180130	OMIM			
8768992	Dhfr	dihydrofolate reductase	gene	DOID:9003312	Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency		ISO	RGD:736871	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: DHFR DEFICIENCY | ClinVar Annotator: match by term: DHFR-related condition	PMID:1060915|PMID:1099447|PMID:21310276|PMID:21310277|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31371350|PMID:31627758|PMID:6700662
8768992	Dhfr	dihydrofolate reductase	gene	DOID:9003312	Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency		ISO	RGD:736871	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DHFR-related condition | ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY	PMID:28492532
8768992	Dhfr	dihydrofolate reductase	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:2500	D	RGD:9068941	20230727	RGD		mRNA,protein:decreased expression:kidney:	PMID:18408363|REF_RGD_ID:11040540
8768992	Dhfr	dihydrofolate reductase	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:736871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21064136
8768992	Dhfr	dihydrofolate reductase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736871	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:17576681|PMID:24033266|PMID:26467025|PMID:26904404|PMID:27476653|PMID:28492532|PMID:31371350|PMID:31627758|PMID:9536098
8768992	Dhfr	dihydrofolate reductase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736871	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:17576681|PMID:20154325|PMID:24033266|PMID:26467025|PMID:26904404|PMID:27476653|PMID:28492532|PMID:29641532|PMID:31371350|PMID:31627758|PMID:33332384|PMID:9536098
8768992	Dhfr	dihydrofolate reductase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736871	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:20154325|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26904404|PMID:27476653|PMID:28492532|PMID:29641532|PMID:31371350|PMID:31627758|PMID:33332384|PMID:36652909|PMID:9536098
8768992	Dhfr	dihydrofolate reductase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19648163
8768992	Dhfr	dihydrofolate reductase	gene	DOID:9007456	Female Infertility		ISO	RGD:736871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17519396
8768992	Dhfr	dihydrofolate reductase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8768992	Dhfr	dihydrofolate reductase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:736871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15814641
8768992	Dhfr	dihydrofolate reductase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21501481|PMID:28188287
8768992	Dhfr	dihydrofolate reductase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8768992	Dhfr	dihydrofolate reductase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8768992	Dhfr	dihydrofolate reductase	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:736871	D	RGD:9068941	20200609	RGD			PMID:9226157|REF_RGD_ID:11039543
8768992	Dhfr	dihydrofolate reductase	gene	DOID:9952	acute lymphoblastic leukemia	disease_progression	ISO	RGD:736871	D	RGD:9068941	20200609	RGD			PMID:12972803|REF_RGD_ID:11039545
8768992	Dhfr	dihydrofolate reductase	gene	DOID:9952	acute lymphoblastic leukemia	disease_progression	ISO	RGD:736871	D	RGD:9068941	20200609	RGD		DNA:polymorphisms, haplotype:promoter:	PMID:19861437|REF_RGD_ID:11039542
8768992	Dhfr	dihydrofolate reductase	gene	DOID:9952	acute lymphoblastic leukemia	disease_progression	ISO	RGD:736871	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :-317A>G, 829C>T (human)	PMID:22969948|REF_RGD_ID:11039544
8769012	Crispld2	cysteine rich secretory protein LCCL domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8769012	Crispld2	cysteine rich secretory protein LCCL domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8769012	Crispld2	cysteine rich secretory protein LCCL domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8769012	Crispld2	cysteine rich secretory protein LCCL domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1605611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8769012	Crispld2	cysteine rich secretory protein LCCL domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1605611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8769012	Crispld2	cysteine rich secretory protein LCCL domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8769012	Crispld2	cysteine rich secretory protein LCCL domain containing 2	gene	DOID:3602	toxic encephalopathy		ISO	RGD:1605611	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
8769012	Crispld2	cysteine rich secretory protein LCCL domain containing 2	gene	DOID:409	liver disease		ISO	RGD:1605611	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
8769012	Crispld2	cysteine rich secretory protein LCCL domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8769012	Crispld2	cysteine rich secretory protein LCCL domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8769012	Crispld2	cysteine rich secretory protein LCCL domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8769012	Crispld2	cysteine rich secretory protein LCCL domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605611	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8769012	Crispld2	cysteine rich secretory protein LCCL domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8769012	Crispld2	cysteine rich secretory protein LCCL domain containing 2	gene	DOID:850	lung disease		ISO	RGD:1605611	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21069352
8769012	Crispld2	cysteine rich secretory protein LCCL domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8769012	Crispld2	cysteine rich secretory protein LCCL domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532|PMID:28659821|PMID:34422331|PMID:37937776
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:733386	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A	PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25326637|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27125181|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28492532|PMID:28655553|PMID:30739908|PMID:31624717
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:733386	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A	PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25326637|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:31624717
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:733386	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A	PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:31624717
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:733386	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A	PMID:10025408|PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23358096|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25326635|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27647783|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28387797|PMID:28492532|PMID:28550590|PMID:28655553|PMID:28659821|PMID:29192238|PMID:29510914|PMID:29706644|PMID:29907982|PMID:30059548|PMID:30219046|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31624717|PMID:31915033|PMID:32339686|PMID:32867844|PMID:32897753|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34498425|PMID:35092149|PMID:35830949|PMID:35903967|PMID:36237225|PMID:36584339|PMID:36937954|PMID:37042257|PMID:37998513|PMID:9536098
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:733386	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A	PMID:10025408|PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23358096|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25326635|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27647783|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28387797|PMID:28492532|PMID:28550590|PMID:28655553|PMID:28659821|PMID:29192238|PMID:29510914|PMID:29706644|PMID:29907982|PMID:30059548|PMID:30219046|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31624717|PMID:31915033|PMID:32339686|PMID:32867844|PMID:32897753|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34422331|PMID:34498425|PMID:35092149|PMID:35830949|PMID:35903967|PMID:36237225|PMID:36580209|PMID:36584339|PMID:36937954|PMID:37042257|PMID:37937776|PMID:37998513|PMID:9536098
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:733386	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Loeys-Dietz Syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome	PMID:10025408|PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26848186|PMID:26877057|PMID:27037046|PMID:27146836|PMID:27153395|PMID:27647783|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28387797|PMID:28492532|PMID:28550590|PMID:28659821|PMID:29192238|PMID:29510914|PMID:29706644|PMID:29907982|PMID:30059548|PMID:30219046|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31624717|PMID:31915033|PMID:32339686|PMID:32897753|PMID:33824467|PMID:34422331|PMID:35092149|PMID:35830949|PMID:35903967|PMID:36103205|PMID:36237225|PMID:36584339|PMID:36937954|PMID:37937776|PMID:37998513|PMID:9536098
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:0050946	Charlevoix-Saguenay spastic ataxia		ISO	RGD:733386	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia	PMID:25326637|PMID:28492532
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:0060058	lymphoma		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:0060249	scoliosis		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:0070235	Loeys-Dietz syndrome 1		ISO	RGD:733386	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 5 | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: LOEYS-DIETZ SYNDROME 1 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 | ClinVar Annotator: match by term: TGFBR1-related disorder	PMID:10025408|PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:18852674|PMID:19542084|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25326635|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26848186|PMID:26877057|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27647783|PMID:27879313|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28659821|PMID:29192238|PMID:29706644|PMID:29907982|PMID:30219046|PMID:30701076|PMID:30739908|PMID:31915033|PMID:32339686|PMID:33436942|PMID:33693090|PMID:33824467|PMID:34270679|PMID:34422331|PMID:35092149|PMID:36103205|PMID:36237225|PMID:36937954|PMID:37937776|PMID:40612107|PMID:9536098
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:0070235	Loeys-Dietz syndrome 1	susceptibility	ISO	RGD:733386	D	RGD:7240710	20260722	OMIM			
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:25741868|PMID:25834947|PMID:28492532
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:0080685	aortic dissection		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic dissection | ClinVar Annotator: match by term: Ascending aortic dissection	
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:1115	sarcoma		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:11162	respiratory failure		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868|PMID:28492532|PMID:28659821|PMID:34422331|PMID:37937776
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:11830	myopia		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25834947|PMID:25944730|PMID:28209770|PMID:28492532|PMID:28659821|PMID:34422331|PMID:37937776
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:127	leiomyoma		ISO	RGD:3852	D	RGD:9068941	20200609	RGD			PMID:17505012|REF_RGD_ID:2302021
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:733386	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:16928994|PMID:18781618|PMID:21358634|PMID:24033266|PMID:24055113|PMID:2511639|PMID:25116393|PMID:25504618|PMID:25637381|PMID:25741868|PMID:25907466|PMID:25985138|PMID:27153395|PMID:27647783|PMID:27879313|PMID:28492532|PMID:28550590|PMID:36937954
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23142374|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27558455|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28492532|PMID:28655553|PMID:29543232|PMID:30087447|PMID:30675029|PMID:30739908|PMID:31624717|PMID:31837199|PMID:5173258|PMID:8499949|PMID:9536098
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28209770|PMID:28492532|PMID:28655553|PMID:30087447|PMID:30675029|PMID:31624717|PMID:31837199|PMID:31915033|PMID:5173258|PMID:8499949|PMID:9536098
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29907982|PMID:30087447|PMID:30675029|PMID:31624717|PMID:31837199|PMID:31915033|PMID:5173258|PMID:8499949|PMID:9536098
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30675029|PMID:30701076|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:33256177|PMID:5173258|PMID:8499949|PMID:9536098
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:33256177|PMID:33436942|PMID:33824467|PMID:5173258|PMID:8499949|PMID:9536098
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34456753|PMID:5173258|PMID:8499949|PMID:9536098
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34456753|PMID:5173258|PMID:8499949|PMID:9536098
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19763152|PMID:19839986|PMID:20307669|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22406018|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34456753|PMID:35830949|PMID:36237225|PMID:36584339|PMID:5173258|PMID:8499949|PMID:9536098
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19763152|PMID:19839986|PMID:20307669|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22406018|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31475485|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:32778766|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34456753|PMID:35830949|PMID:36237225|PMID:36584339|PMID:5173258|PMID:8499949|PMID:9536098
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10025408|PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19763152|PMID:19839986|PMID:20307669|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22406018|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:28659821|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31475485|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:32778766|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34456753|PMID:35092149|PMID:35830949|PMID:35903967|PMID:36237225|PMID:36584339|PMID:5173258|PMID:8499949|PMID:9536098
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10025408|PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19763152|PMID:19839986|PMID:19883511|PMID:20307669|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22406018|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:28659821|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31475485|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:32778766|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34456753|PMID:35092149|PMID:35830949|PMID:35903967|PMID:36237225|PMID:36584339|PMID:36937954|PMID:5173258|PMID:8499949|PMID:9536098
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10025408|PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19763152|PMID:19839986|PMID:19883511|PMID:20307669|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22406018|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25437144|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:28659821|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31475485|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:32778766|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34456753|PMID:35092149|PMID:35830949|PMID:35903967|PMID:36237225|PMID:36584339|PMID:36937954|PMID:5173258|PMID:8499949|PMID:9536098
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10025408|PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19763152|PMID:19839986|PMID:19883511|PMID:20307669|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22406018|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25437144|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:28659821|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31475485|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:32778766|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34456753|PMID:35092149|PMID:35181021|PMID:35830949|PMID:35903967|PMID:36237225|PMID:36584339|PMID:36937954|PMID:37998513|PMID:5173258|PMID:8499949|PMID:9536098
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10025408|PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19763152|PMID:19839986|PMID:19883511|PMID:20307669|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22406018|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25437144|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:28659821|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31475485|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:32778766|PMID:32867844|PMID:33057194|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34422331|PMID:34456753|PMID:34498425|PMID:35092149|PMID:35181021|PMID:35753512|PMID:35830949|PMID:35903967|PMID:36237225|PMID:36580209|PMID:36584339|PMID:36937954|PMID:37010288|PMID:37042257|PMID:37937776|PMID:37998513|PMID:38774681|PMID:5173258|PMID:8499949|PMID:9536098
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10025408|PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19763152|PMID:19839986|PMID:19883511|PMID:20307669|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22406018|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:28659821|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31475485|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:32778766|PMID:32867844|PMID:33057194|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34422331|PMID:34456753|PMID:34498425|PMID:35092149|PMID:35181021|PMID:35753512|PMID:35830949|PMID:35903967|PMID:36237225|PMID:36580209|PMID:36584339|PMID:36937954|PMID:37010288|PMID:37042257|PMID:37937776|PMID:37998513|PMID:38774681|PMID:5173258|PMID:8499949|PMID:9536098
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10025408|PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19763152|PMID:19839986|PMID:19883511|PMID:20307669|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22406018|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:28659821|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31475485|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:32778766|PMID:32867844|PMID:33057194|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34422331|PMID:34456753|PMID:34498425|PMID:35092149|PMID:35181021|PMID:35753512|PMID:35830949|PMID:35903967|PMID:36103205|PMID:36237225|PMID:36580209|PMID:36584339|PMID:36937954|PMID:37010288|PMID:37042257|PMID:37937776|PMID:37998513|PMID:38774681|PMID:5173258|PMID:8499949|PMID:9536098
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10025408|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26848186|PMID:26877057|PMID:27037046|PMID:27146836|PMID:27153395|PMID:27647783|PMID:27879313|PMID:28209770|PMID:28492532|PMID:28550590|PMID:29192238|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30219046|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31915033|PMID:32339686|PMID:32352226|PMID:33824467|PMID:35092149|PMID:35181021|PMID:36103205|PMID:36237225|PMID:36937954|PMID:9536098
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:14323	Marfan syndrome		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan's syndrome	PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28209770|PMID:28492532
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:16199547|PMID:21358634|PMID:28492532|PMID:35101336
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:733386	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1	PMID:28492532|PMID:30675029
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:1580	diffuse scleroderma		ISO	RGD:733386	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:27228633
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:1596	depressive disorder		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532|PMID:28659821|PMID:34422331|PMID:37937776
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:1909	melanoma		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:2030	anxiety disorder		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532|PMID:28659821|PMID:34422331|PMID:37937776
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:3852	D	RGD:9068941	20200609	RGD			PMID:17366323|REF_RGD_ID:2302024
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:2340	craniosynostosis		ISO	RGD:733386	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:25741868|PMID:31837199
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:2661	myoepithelioma		ISO	RGD:733386	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:2841	asthma		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532|PMID:28659821|PMID:34422331|PMID:37937776
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:3021	acute kidney failure		ISO	RGD:733386	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34677723
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:327	syringomyelia		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syringomyelia	
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:348	blepharochalasis		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharochalasis	PMID:25741868|PMID:25834947|PMID:28492532
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:3498	pancreatic ductal adenocarcinoma	ameliorates	ISO	RGD:733386	D	RGD:9068941	20221027	RGD		human cell line in a mouse model	PMID:17297450|REF_RGD_ID:155630637
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:3627	aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm	PMID:25741868|PMID:37823753
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733386	D	RGD:9068941	20200609	RGD			PMID:17613544|REF_RGD_ID:2306282
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:16199547|PMID:21358634|PMID:28492532
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:418	systemic scleroderma		ISO	RGD:736083	D	RGD:9068941	20240425	MouseDO		OMIM:181750	
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:4676	uremia		ISO	RGD:733386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19092814
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733386	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:733386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28560358
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:520	aortic disease		ISO	RGD:733386	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial aortopathy	PMID:10025408|PMID:16799921|PMID:16928994|PMID:19542084|PMID:23884466|PMID:25741868|PMID:26848186|PMID:26877057|PMID:27879313|PMID:28492532|PMID:30739908|PMID:31915033|PMID:35092149|PMID:36237225
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:557	kidney disease		ISO	RGD:3852	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:18198643|REF_RGD_ID:2302020
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:5585	Ferguson-Smith tumor		ISO	RGD:733386	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial keratoacanthoma | ClinVar Annotator: match by term: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma | ClinVar Annotator: match by term: TGFBR1-related disorder	PMID:10025408|PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23358096|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26848186|PMID:26877057|PMID:27146836|PMID:27153395|PMID:27647783|PMID:27879313|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28659821|PMID:29192238|PMID:29706644|PMID:29907982|PMID:30219046|PMID:30701076|PMID:30739908|PMID:31915033|PMID:32339686|PMID:33256177|PMID:33824467|PMID:34422331|PMID:35092149|PMID:36103205|PMID:36237225|PMID:36937954|PMID:37937776|PMID:9536098
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:5585	Ferguson-Smith tumor	susceptibility	ISO	RGD:733386	D	RGD:7240710	20260722	OMIM			
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:5644	tricuspid valve prolapse		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tricuspid valve prolapse	PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28209770|PMID:28492532
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:57	aortic valve insufficiency		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic regurgitation	PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28209770|PMID:28492532
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:5844	myocardial infarction		ISO	RGD:3852	D	RGD:9068941	20200609	RGD			PMID:10198196|REF_RGD_ID:1601617
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:3852	D	RGD:9068941	20200609	RGD			PMID:18202349|REF_RGD_ID:2302019
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:65	connective tissue disease		ISO	RGD:733386	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal aortic aneurysm	PMID:25741868|PMID:25834947|PMID:28492532
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:8398	osteoarthritis		ISO	RGD:736083	D	RGD:9068941	20220825	MouseDO		OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400	
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:733386	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Experimental	PMID:12808151|REF_RGD_ID:737735
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9001224	Striae Distensae		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:25741868|PMID:25834947|PMID:28492532
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:733386	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9001516	Familial Thoracic Aortic Aneurysm 6		ISO	RGD:733386	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6	PMID:25741868|PMID:27879313|PMID:28492532
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9001528	ARTERIAL DISSECTION		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arterial dissection	PMID:23064905|PMID:25741868|PMID:28492532|PMID:29192238|PMID:30701076|PMID:32339686|PMID:36103205
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3852	D	RGD:9068941	20200609	RGD			PMID:15723089|REF_RGD_ID:2302027
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3852	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:16009107|REF_RGD_ID:1601595
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:733386	D	RGD:9068941	20200609	RGD			PMID:15723089|REF_RGD_ID:2302027
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736083	D	RGD:9068941	20200609	RGD			PMID:15723089|REF_RGD_ID:2302027
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:733386	D	RGD:9068941	20200924	RGD		mRNA:increased expression:lung	PMID:25593290|REF_RGD_ID:38500244
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:3852	D	RGD:9068941	20200609	RGD		associated with Experimental Pancreatitis, Chronic	PMID:26645248|REF_RGD_ID:14995470
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9003279	Joint Dislocations		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint dislocation	
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:733386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9004097	Marfanoid Hypermobility Syndrome		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Marfan syndrome type 1	PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28209770|PMID:28492532
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:733386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21358634
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28209770|PMID:28492532
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28209770|PMID:28492532
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9005077	Joint Instability		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28209770|PMID:28492532
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:733386	D	RGD:9068941	20200609	RGD			PMID:12808151|REF_RGD_ID:737735
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9005367	Arachnodactyly		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28209770|PMID:28492532
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9005890	Disproportionate Tall Stature		ISO	RGD:733386	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: Disproportionate tall stature	PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28209770|PMID:28492532
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9006045	Dissecting Aneurysm		ISO	RGD:733386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22772368
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:3852	D	RGD:9068941	20230527	RGD		mRNA:increased expression:carotic artery (rat)	PMID:9622270|REF_RGD_ID:329845558
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:733386	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:27228633
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9007033	Ventricular Premature Complexes		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ventricular contraction	PMID:10025408|PMID:16799921|PMID:19542084|PMID:25741868|PMID:26848186|PMID:26877057|PMID:27879313|PMID:28492532|PMID:30739908|PMID:31915033|PMID:35092149|PMID:36237225
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:733386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28560358
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9007573	Flatfoot		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:10025408|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:18781618|PMID:19542084|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:26848186|PMID:26877057|PMID:27879313|PMID:28209770|PMID:28492532|PMID:30739908|PMID:31915033|PMID:35092149|PMID:36237225
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9007661	Dwarfism		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:733386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18703712
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast neoplasm	
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:733386	D	RGD:9068941	20221027	RGD		sporadic colorectal cancer;DNA:deletion:exon: (rs11466445) (human)	PMID:24880985|REF_RGD_ID:155630638
8769037	Tgfbr1	transforming growth factor beta receptor 1	gene	DOID:988	mitral valve prolapse		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	PMID:10025408|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:18781618|PMID:19542084|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:26848186|PMID:26877057|PMID:27879313|PMID:28209770|PMID:28492532|PMID:30739908|PMID:31915033|PMID:35092149|PMID:36237225
8769060	Man2a2	mannosidase alpha class 2A member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769060	Man2a2	mannosidase alpha class 2A member 2	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1321024	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
8769060	Man2a2	mannosidase alpha class 2A member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8769060	Man2a2	mannosidase alpha class 2A member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8769060	Man2a2	mannosidase alpha class 2A member 2	gene	DOID:1115	sarcoma		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8769060	Man2a2	mannosidase alpha class 2A member 2	gene	DOID:1909	melanoma		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8769060	Man2a2	mannosidase alpha class 2A member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8769060	Man2a2	mannosidase alpha class 2A member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8769060	Man2a2	mannosidase alpha class 2A member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321024	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8769060	Man2a2	mannosidase alpha class 2A member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769060	Man2a2	mannosidase alpha class 2A member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8769060	Man2a2	mannosidase alpha class 2A member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8769096	Cxxc1	CXXC finger protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8769096	Cxxc1	CXXC finger protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769096	Cxxc1	CXXC finger protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8769096	Cxxc1	CXXC finger protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8769096	Cxxc1	CXXC finger protein 1	gene	DOID:3275	thymoma		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8769096	Cxxc1	CXXC finger protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8769096	Cxxc1	CXXC finger protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8769096	Cxxc1	CXXC finger protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321844	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8769096	Cxxc1	CXXC finger protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769096	Cxxc1	CXXC finger protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8769096	Cxxc1	CXXC finger protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8769096	Cxxc1	CXXC finger protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8769096	Cxxc1	CXXC finger protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8769096	Cxxc1	CXXC finger protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8769122	Kcnmb1	potassium calcium-activated channel subfamily M regulatory beta subunit 1	gene	DOID:10763	hypertension		ISO	RGD:2961	D	RGD:9068941	20200609	RGD			PMID:14551242|REF_RGD_ID:1298970
8769122	Kcnmb1	potassium calcium-activated channel subfamily M regulatory beta subunit 1	gene	DOID:10763	hypertension		ISO	RGD:2961	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:aorta, mesenteric artery	PMID:16814121|REF_RGD_ID:10412046
8769122	Kcnmb1	potassium calcium-activated channel subfamily M regulatory beta subunit 1	gene	DOID:10763	hypertension		ISO	RGD:733456	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17700361
8769122	Kcnmb1	potassium calcium-activated channel subfamily M regulatory beta subunit 1	gene	DOID:10763	hypertension		ISO	RGD:733456	D	RGD:9068941	20200609	RGD			PMID:16293791|REF_RGD_ID:1581718
8769122	Kcnmb1	potassium calcium-activated channel subfamily M regulatory beta subunit 1	gene	DOID:9004657	Weight Gain		ISO	RGD:733456	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27288421
8769122	Kcnmb1	potassium calcium-activated channel subfamily M regulatory beta subunit 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2961	D	RGD:9068941	20200609	RGD		protein:decreased expression:aorta, smooth muscle	PMID:24589593|REF_RGD_ID:10412030
8769122	Kcnmb1	potassium calcium-activated channel subfamily M regulatory beta subunit 1	gene	DOID:9007102	Myocardial Ischemia	no_association	ISO	RGD:733456	D	RGD:9068941	20200609	RGD			PMID:16155733|REF_RGD_ID:1581719
8769122	Kcnmb1	potassium calcium-activated channel subfamily M regulatory beta subunit 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:2961	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:aorta, mesenteric artery	PMID:21425425|REF_RGD_ID:10412047
8769122	Kcnmb1	potassium calcium-activated channel subfamily M regulatory beta subunit 1	gene	DOID:9008282	Diastolic Hypertension, Resistance to		ISO	RGD:733456	D	RGD:7240710	20180130	OMIM			
8769122	Kcnmb1	potassium calcium-activated channel subfamily M regulatory beta subunit 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2961	D	RGD:9068941	20200609	RGD		protein:decreased expression:aorta	PMID:18790848|REF_RGD_ID:10412045
8769138	Sytl2	synaptotagmin like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769138	Sytl2	synaptotagmin like 2	gene	DOID:0080600	COVID-19		ISO	RGD:1316959	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8769138	Sytl2	synaptotagmin like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8769138	Sytl2	synaptotagmin like 2	gene	DOID:1324	lung cancer		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8769138	Sytl2	synaptotagmin like 2	gene	DOID:1558	angioedema		ISO	RGD:1316959	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Angioedema	PMID:28327206
8769138	Sytl2	synaptotagmin like 2	gene	DOID:3070	high grade glioma		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8769138	Sytl2	synaptotagmin like 2	gene	DOID:3275	thymoma		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8769138	Sytl2	synaptotagmin like 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8769138	Sytl2	synaptotagmin like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1316959	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8769138	Sytl2	synaptotagmin like 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8769138	Sytl2	synaptotagmin like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8769138	Sytl2	synaptotagmin like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316959	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8769138	Sytl2	synaptotagmin like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769138	Sytl2	synaptotagmin like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8769138	Sytl2	synaptotagmin like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8769186	CUNH4orf36	chromosome unknown C4orf36 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769186	CUNH4orf36	chromosome unknown C4orf36 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1606159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8769203	Tatdn3	TatD DNase domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769203	Tatdn3	TatD DNase domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1604534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8769203	Tatdn3	TatD DNase domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1604534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8769203	Tatdn3	TatD DNase domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1604534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8769203	Tatdn3	TatD DNase domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8769203	Tatdn3	TatD DNase domain containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8769203	Tatdn3	TatD DNase domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769203	Tatdn3	TatD DNase domain containing 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1604534	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8769203	Tatdn3	TatD DNase domain containing 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8769203	Tatdn3	TatD DNase domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8769203	Tatdn3	TatD DNase domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8769203	Tatdn3	TatD DNase domain containing 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1604534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8769222	Pla1a	phospholipase A1 member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769222	Pla1a	phospholipase A1 member A	gene	DOID:10534	stomach cancer		ISO	RGD:1343434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8769222	Pla1a	phospholipase A1 member A	gene	DOID:1324	lung cancer		ISO	RGD:1343434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8769222	Pla1a	phospholipase A1 member A	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1343434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia	
8769222	Pla1a	phospholipase A1 member A	gene	DOID:1909	melanoma		ISO	RGD:1343434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8769222	Pla1a	phospholipase A1 member A	gene	DOID:3275	thymoma		ISO	RGD:1343434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8769222	Pla1a	phospholipase A1 member A	gene	DOID:4362	cervical cancer		ISO	RGD:1343434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8769222	Pla1a	phospholipase A1 member A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8769222	Pla1a	phospholipase A1 member A	gene	DOID:6039	uveal melanoma		ISO	RGD:1343434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8769222	Pla1a	phospholipase A1 member A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343434	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8769222	Pla1a	phospholipase A1 member A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8769222	Pla1a	phospholipase A1 member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8769222	Pla1a	phospholipase A1 member A	gene	DOID:9256	colorectal cancer		ISO	RGD:1343434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8769238	Bicdl1	BICD family like cargo adaptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769238	Bicdl1	BICD family like cargo adaptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1603186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8769238	Bicdl1	BICD family like cargo adaptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1603186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8769238	Bicdl1	BICD family like cargo adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769238	Bicdl1	BICD family like cargo adaptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8769250	Sema4f	ssemaphorin 4F	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8769250	Sema4f	ssemaphorin 4F	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769250	Sema4f	ssemaphorin 4F	gene	DOID:1115	sarcoma		ISO	RGD:735857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8769250	Sema4f	ssemaphorin 4F	gene	DOID:1324	lung cancer		ISO	RGD:735857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8769250	Sema4f	ssemaphorin 4F	gene	DOID:1790	malignant mesothelioma		ISO	RGD:735857	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
8769250	Sema4f	ssemaphorin 4F	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8769250	Sema4f	ssemaphorin 4F	gene	DOID:4362	cervical cancer		ISO	RGD:735857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8769250	Sema4f	ssemaphorin 4F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769250	Sema4f	ssemaphorin 4F	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8769283	Btg1	BTG anti-proliferation factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769283	Btg1	BTG anti-proliferation factor 1	gene	DOID:1115	sarcoma		ISO	RGD:736072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8769283	Btg1	BTG anti-proliferation factor 1	gene	DOID:11801	protein-energy malnutrition		ISO	RGD:2224	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:11952159|REF_RGD_ID:631316
8769283	Btg1	BTG anti-proliferation factor 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:736072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8769283	Btg1	BTG anti-proliferation factor 1	gene	DOID:5419	schizophrenia		ISO	RGD:736072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16223876
8769283	Btg1	BTG anti-proliferation factor 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:736072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8769283	Btg1	BTG anti-proliferation factor 1	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:736072	D	RGD:9068941	20200609	RGD			PMID:15449376|REF_RGD_ID:1549463
8769283	Btg1	BTG anti-proliferation factor 1	gene	DOID:9538	multiple myeloma		ISO	RGD:736072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16918137
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:0050742	nicotine dependence		ISO	RGD:1351216	D	RGD:9068941	20200609	RGD		DNA:snps:introns: (rs2072115), (rs2074533) (human)	PMID:15274052|REF_RGD_ID:9835361
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1351216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:10603	glucose intolerance		ISO	RGD:1351216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27381457
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:1324	lung cancer		ISO	RGD:1351216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:3021	acute kidney failure		ISO	RGD:1351216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21745194
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1351216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22363678
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:3275	thymoma		ISO	RGD:1351216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1351216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:6000	congestive heart failure		ISO	RGD:1351216	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:left ventricle myocardium (human)	PMID:18323524|REF_RGD_ID:9835356
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:9002056	Arterial Injury		ISO	RGD:621869	D	RGD:9068941	20200609	RGD		mRNA:increased expression:femoral artery (rat)	PMID:18689492|REF_RGD_ID:9835375
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:9002098	Tick-Borne Diseases		ISO	RGD:1351216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24218580
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:9003936	Cardiomegaly		ISO	RGD:621869	D	RGD:9068941	20200609	RGD		protein:increased expression:left ventricle myocardium (rat)	PMID:18323524|REF_RGD_ID:9835356
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:9003936	Cardiomegaly	susceptibility	ISO	RGD:732974	D	RGD:9068941	20200609	RGD			PMID:25411381|REF_RGD_ID:9850089
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:621869	D	RGD:9068941	20200609	RGD			PMID:18178058|REF_RGD_ID:9835362
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1351216	D	RGD:9068941	20200609	RGD		protein:altered expression:thyroid gland (human)	PMID:25372777|REF_RGD_ID:9835389
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:732974	D	RGD:9068941	20200609	RGD		protein:increased expression:heart (mouse)	PMID:24721545|REF_RGD_ID:9835365
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:9007347	Rickettsia Infections		ISO	RGD:1351216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24218580
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:9007730	Burns	treatment	ISO	RGD:621869	D	RGD:9068941	20200609	RGD			PMID:24973766|REF_RGD_ID:9850087
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:9120	amyloidosis		ISO	RGD:732974	D	RGD:9068941	20200609	RGD		protein:increased expression:heart (mouse)	PMID:24721545|REF_RGD_ID:9835365
8769289	Rapgef3	Rap guanine nucleotide exchange factor 3	gene	DOID:9970	obesity		ISO	RGD:1351216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29273807
8769321	Atp6v0c	ATPase H+ transporting V0 subunit c	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8769321	Atp6v0c	ATPase H+ transporting V0 subunit c	gene	DOID:0070472	early-onset epilepsy 3		ISO	RGD:731892	D	RGD:7240710	20230920	OMIM			
8769321	Atp6v0c	ATPase H+ transporting V0 subunit c	gene	DOID:0070472	early-onset epilepsy 3		ISO	RGD:731892	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: Epilepsy, early-onset, 3, with or without developmental delay	PMID:25741868|PMID:35600075|PMID:37161035
8769321	Atp6v0c	ATPase H+ transporting V0 subunit c	gene	DOID:0111297	familial febrile seizures		ISO	RGD:731892	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Febrile seizures, familial	PMID:25741868
8769321	Atp6v0c	ATPase H+ transporting V0 subunit c	gene	DOID:1826	epilepsy		ISO	RGD:731892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8769321	Atp6v0c	ATPase H+ transporting V0 subunit c	gene	DOID:3963	thyroid gland carcinoma	disease_progression	ISO	RGD:731892	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:30884810|REF_RGD_ID:14696825
8769321	Atp6v0c	ATPase H+ transporting V0 subunit c	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769330	Rpl28	ribosomal protein L28	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769330	Rpl28	ribosomal protein L28	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8769330	Rpl28	ribosomal protein L28	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:621193	D	RGD:9068941	20200609	RGD			PMID:16805800|REF_RGD_ID:6480229
8769330	Rpl28	ribosomal protein L28	gene	DOID:4362	cervical cancer		ISO	RGD:733961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8769330	Rpl28	ribosomal protein L28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769330	Rpl28	ribosomal protein L28	gene	DOID:9004657	Weight Gain		ISO	RGD:733961	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8769330	Rpl28	ribosomal protein L28	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8769366	Phc1	polyhomeotic homolog 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769366	Phc1	polyhomeotic homolog 1	gene	DOID:0070287	primary autosomal recessive microcephaly 11		ISO	RGD:1319414	D	RGD:7240710	20180130	OMIM			
8769366	Phc1	polyhomeotic homolog 1	gene	DOID:0070287	primary autosomal recessive microcephaly 11		ISO	RGD:1319414	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly 11, primary, autosomal recessive | ClinVar Annotator: match by term: PHC1-related condition	PMID:25741868
8769366	Phc1	polyhomeotic homolog 1	gene	DOID:0070297	primary microcephaly		ISO	RGD:1319414	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	
8769366	Phc1	polyhomeotic homolog 1	gene	DOID:1059	intellectual disability		ISO	RGD:1319414	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:23418308|PMID:25558065
8769366	Phc1	polyhomeotic homolog 1	gene	DOID:1059	intellectual disability		ISO	RGD:1319414	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	
8769366	Phc1	polyhomeotic homolog 1	gene	DOID:10907	microcephaly		ISO	RGD:1319414	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital microcephaly	
8769366	Phc1	polyhomeotic homolog 1	gene	DOID:1115	sarcoma		ISO	RGD:1319414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8769366	Phc1	polyhomeotic homolog 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319415	D	RGD:9068941	20240425	MouseDO			
8769366	Phc1	polyhomeotic homolog 1	gene	DOID:1909	melanoma		ISO	RGD:1319414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8769366	Phc1	polyhomeotic homolog 1	gene	DOID:3275	thymoma		ISO	RGD:1319414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8769366	Phc1	polyhomeotic homolog 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8769366	Phc1	polyhomeotic homolog 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8769366	Phc1	polyhomeotic homolog 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769366	Phc1	polyhomeotic homolog 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1319415	D	RGD:9068941	20220825	MouseDO		OMIM:187500	
8769366	Phc1	polyhomeotic homolog 1	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:1319414	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16168501
8769395	Rps12	ribosomal protein S12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8769395	Rps12	ribosomal protein S12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769395	Rps12	ribosomal protein S12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8769395	Rps12	ribosomal protein S12	gene	DOID:3070	high grade glioma		ISO	RGD:735309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8769395	Rps12	ribosomal protein S12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8769395	Rps12	ribosomal protein S12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735309	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769395	Rps12	ribosomal protein S12	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:62024	D	RGD:9068941	20200609	RGD		associated with Metabolic Syndrome X;mRNA:increased expression:liver	PMID:25294893|REF_RGD_ID:11039460
8769395	Rps12	ribosomal protein S12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8769395	Rps12	ribosomal protein S12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8769406	Hmgxb3	HMG-box containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2302190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8769406	Hmgxb3	HMG-box containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2302190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769406	Hmgxb3	HMG-box containing 3	gene	DOID:0060058	lymphoma		ISO	RGD:2302190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8769406	Hmgxb3	HMG-box containing 3	gene	DOID:1115	sarcoma		ISO	RGD:2302190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8769406	Hmgxb3	HMG-box containing 3	gene	DOID:1324	lung cancer		ISO	RGD:2302190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8769406	Hmgxb3	HMG-box containing 3	gene	DOID:3275	thymoma		ISO	RGD:2302190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8769406	Hmgxb3	HMG-box containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:2302190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8769406	Hmgxb3	HMG-box containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:2302190	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8769406	Hmgxb3	HMG-box containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2302190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769406	Hmgxb3	HMG-box containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2302190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8769406	Hmgxb3	HMG-box containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2302190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8769406	Hmgxb3	HMG-box containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2302190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8769430	Uprt	uracil phosphoribosyltransferase homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8769430	Uprt	uracil phosphoribosyltransferase homolog	gene	DOID:1324	lung cancer		ISO	RGD:1605870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8769430	Uprt	uracil phosphoribosyltransferase homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8769430	Uprt	uracil phosphoribosyltransferase homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1605870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8769430	Uprt	uracil phosphoribosyltransferase homolog	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8769430	Uprt	uracil phosphoribosyltransferase homolog	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1564806	D	RGD:9068941	20200609	RGD		protein:decreased activity:mammary gland (rat)	PMID:1476792|REF_RGD_ID:5132591
8769430	Uprt	uracil phosphoribosyltransferase homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8769430	Uprt	uracil phosphoribosyltransferase homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8769456	Acsl5	acyl-CoA synthetase long chain family member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769456	Acsl5	acyl-CoA synthetase long chain family member 5	gene	DOID:1115	sarcoma		ISO	RGD:1604361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8769456	Acsl5	acyl-CoA synthetase long chain family member 5	gene	DOID:1324	lung cancer		ISO	RGD:1604361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8769456	Acsl5	acyl-CoA synthetase long chain family member 5	gene	DOID:4362	cervical cancer		ISO	RGD:1604361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8769456	Acsl5	acyl-CoA synthetase long chain family member 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1604361	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8769456	Acsl5	acyl-CoA synthetase long chain family member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769456	Acsl5	acyl-CoA synthetase long chain family member 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8769456	Acsl5	acyl-CoA synthetase long chain family member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8769456	Acsl5	acyl-CoA synthetase long chain family member 5	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1604361	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18988084
8769456	Acsl5	acyl-CoA synthetase long chain family member 5	gene	DOID:9005374	Diarrhea 13		ISO	RGD:1604361	D	RGD:7240710	20230505	OMIM			
8769456	Acsl5	acyl-CoA synthetase long chain family member 5	gene	DOID:9005374	Diarrhea 13		ISO	RGD:1604361	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diarrhea 13	
8769456	Acsl5	acyl-CoA synthetase long chain family member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8769456	Acsl5	acyl-CoA synthetase long chain family member 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8769489	Col10a1	collagen type X alpha 1 chain	gene	DOID:0080021	Schmid metaphyseal chondrodysplasia		ISO	RGD:735281	D	RGD:7240710	20180130	OMIM			
8769489	Col10a1	collagen type X alpha 1 chain	gene	DOID:2256	osteochondrodysplasia	susceptibility	ISO	RGD:735281	D	RGD:9068941	20200609	RGD		Schmid metaphyseal chondrodysplasia, OMIM:156500;DNA:deletion mutations, missense mutation: :1856delC, 1992delCT, p.C591R	PMID:8004099|REF_RGD_ID:1600880
8769489	Col10a1	collagen type X alpha 1 chain	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:735281	D	RGD:9068941	20210924	RGD		mRNA:increased expression:lung	PMID:33324550|REF_RGD_ID:150429752
8769489	Col10a1	collagen type X alpha 1 chain	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:735281	D	RGD:9068941	20210924	RGD			PMID:33324550|REF_RGD_ID:150429752
8769489	Col10a1	collagen type X alpha 1 chain	gene	DOID:90	degenerative disc disease		ISO	RGD:2371	D	RGD:9068941	20200609	RGD			PMID:20948465|REF_RGD_ID:8661231
8769489	Col10a1	collagen type X alpha 1 chain	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:2371	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:cartilage	PMID:22670655|REF_RGD_ID:10043109
8769489	Col10a1	collagen type X alpha 1 chain	gene	DOID:9009121	lung metastasis	ameliorates	ISO	RGD:735281	D	RGD:9068941	20210924	RGD		associated with H1299 cell	PMID:33324550|REF_RGD_ID:150429752
8769505	Snrpd3	small nuclear ribonucleoprotein D3 polypeptide	gene	DOID:305	carcinoma		ISO	RGD:1345342	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8769505	Snrpd3	small nuclear ribonucleoprotein D3 polypeptide	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1345342	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8769505	Snrpd3	small nuclear ribonucleoprotein D3 polypeptide	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769505	Snrpd3	small nuclear ribonucleoprotein D3 polypeptide	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1345342	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8769505	Snrpd3	small nuclear ribonucleoprotein D3 polypeptide	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1345342	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8769505	Snrpd3	small nuclear ribonucleoprotein D3 polypeptide	gene	DOID:9007429	Soft Tissue Neoplasms	severity	ISO	RGD:1345342	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:multiple (human)	PMID:20165692|REF_RGD_ID:10766477
8769505	Snrpd3	small nuclear ribonucleoprotein D3 polypeptide	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1345342	D	RGD:9068941	20200609	RGD			PMID:17640359|REF_RGD_ID:10755704
8769525	LOC102006357	cytochrome c oxidase subunit 6A2, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8769525	LOC102006357	cytochrome c oxidase subunit 6A2, mitochondrial	gene	DOID:0070503	mitochondrial complex IV deficiency nuclear type 18		ISO	RGD:736247	D	RGD:7240710	20201111	OMIM			
8769525	LOC102006357	cytochrome c oxidase subunit 6A2, mitochondrial	gene	DOID:0070503	mitochondrial complex IV deficiency nuclear type 18		ISO	RGD:736247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COX6A2-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18	PMID:25741868|PMID:31155743
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1343997	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:19668216|PMID:23034536|PMID:23386033|PMID:25741868|PMID:26092869|PMID:28492532|PMID:29146704|PMID:29186038|PMID:34188062
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1343997	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:19668216|PMID:23034536|PMID:23386033|PMID:23847139|PMID:25741868|PMID:25999675|PMID:26075876|PMID:26092869|PMID:27353947|PMID:28125082|PMID:28492532|PMID:28559085|PMID:29146704|PMID:29186038|PMID:31456290|PMID:32483926|PMID:34188062|PMID:34234304|PMID:36909829
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1343997	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:19668216|PMID:23034536|PMID:23386033|PMID:23847139|PMID:25741868|PMID:25999675|PMID:26075876|PMID:26092869|PMID:27353947|PMID:28125082|PMID:28492532|PMID:28559085|PMID:29146704|PMID:29186038|PMID:31456290|PMID:32483926|PMID:34188062|PMID:34234304|PMID:34906470|PMID:36909829
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1343997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:23034536|PMID:23386033|PMID:23847139|PMID:25741868|PMID:25999675|PMID:26092869|PMID:28492532|PMID:28559085|PMID:29186038|PMID:34188062|PMID:36460718|PMID:38465142
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1343997	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:15786477|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19668215|PMID:19668216|PMID:23034536|PMID:23386033|PMID:23847139|PMID:24257694|PMID:25741868|PMID:25999675|PMID:26092869|PMID:26748598|PMID:27081510|PMID:27401686|PMID:27434533|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28771248|PMID:29052317|PMID:29146704|PMID:29186038|PMID:29555955|PMID:29987673|PMID:31589614|PMID:32304219|PMID:33270637|PMID:33749171|PMID:34188062|PMID:34448047|PMID:36063381|PMID:36460718|PMID:36964972|PMID:37315340|PMID:38465142|PMID:9536098
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1343997	D	RGD:7240710	20180130	OMIM			
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1343997	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1	PMID:10577920|PMID:15786477|PMID:17576681|PMID:18414213|PMID:19668215|PMID:19668216|PMID:23034536|PMID:23386033|PMID:23847139|PMID:25133751|PMID:25741868|PMID:25818971|PMID:25999675|PMID:26092869|PMID:27081510|PMID:28125082|PMID:28454995|PMID:28492532|PMID:28559085|PMID:28771248|PMID:29052317|PMID:29186038|PMID:29230161|PMID:29555955|PMID:29915382|PMID:29987673|PMID:30202406|PMID:31589614|PMID:33270637|PMID:9536098
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1343997	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1	PMID:15786477|PMID:18414213|PMID:19668216|PMID:25741868|PMID:26092869|PMID:27081510|PMID:28454995|PMID:28492532|PMID:28559085|PMID:28771248|PMID:29186038|PMID:29915382
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1343997	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Joubert syndrome 1	PMID:10577920|PMID:15786477|PMID:17576681|PMID:18414213|PMID:19668215|PMID:19668216|PMID:23034536|PMID:23386033|PMID:23847139|PMID:24257694|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25999675|PMID:26092869|PMID:26748598|PMID:27081510|PMID:27401686|PMID:28125082|PMID:28454995|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28771248|PMID:29052317|PMID:29146704|PMID:29186038|PMID:29230161|PMID:29555955|PMID:29915382|PMID:29987673|PMID:30202406|PMID:31456290|PMID:31506345|PMID:31589614|PMID:32304219|PMID:33270637|PMID:33749171|PMID:34188062|PMID:9536098
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1343997	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:15786477|PMID:18414213|PMID:19668216|PMID:23034536|PMID:23386033|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26075876|PMID:26092869|PMID:26748598|PMID:27081510|PMID:27353947|PMID:27401686|PMID:28454995|PMID:28492532|PMID:28559085|PMID:28771248|PMID:29052317|PMID:29186038|PMID:29230161|PMID:29915382|PMID:30202406|PMID:31506345|PMID:32483926|PMID:33749171|PMID:34188062
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1343997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:15786477|PMID:17576681|PMID:18414213|PMID:19668216|PMID:23034536|PMID:23386033|PMID:23847139|PMID:25741868|PMID:25920555|PMID:25999675|PMID:26092869|PMID:26748598|PMID:27081510|PMID:27401686|PMID:28125082|PMID:28492532|PMID:28559085|PMID:29052317|PMID:29186038|PMID:29987673|PMID:31506345|PMID:31589614|PMID:33270637|PMID:33749171|PMID:34188062|PMID:35304488|PMID:36063381|PMID:36460718|PMID:36801247|PMID:37735380|PMID:38465142|PMID:9536098
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:10534	stomach cancer		ISO	RGD:1343997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:1059	intellectual disability		ISO	RGD:1343997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19668215
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:1115	sarcoma		ISO	RGD:1343997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:11162	respiratory failure		ISO	RGD:1343997	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:15786477|PMID:19668216|PMID:25741868|PMID:26748598|PMID:27401686|PMID:28492532|PMID:29186038|PMID:33749171|PMID:34188062
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:11836	clubfoot		ISO	RGD:1343997	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Clubfeet	PMID:15786477|PMID:19668216|PMID:25741868|PMID:26748598|PMID:27401686|PMID:28492532|PMID:29186038|PMID:33749171|PMID:34188062
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1343997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:25741868
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1343997	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:15786477|PMID:19668216|PMID:25741868|PMID:26748598|PMID:27401686|PMID:28492532|PMID:29186038|PMID:33749171|PMID:34188062
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1343997	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: leber congenital amaurosis	PMID:23034536|PMID:23386033|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29146704|PMID:29186038|PMID:31456290|PMID:34188062
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:1529	penile disease		ISO	RGD:1343997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19668215
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1343997	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:15786477|PMID:19668216|PMID:25741868|PMID:26748598|PMID:27401686|PMID:28492532|PMID:29186038|PMID:33749171|PMID:34188062
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:3082	interstitial lung disease		ISO	RGD:1343997	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Interstitial lung disease	PMID:15786477|PMID:19668216|PMID:25741868|PMID:26748598|PMID:27401686|PMID:28492532|PMID:29186038|PMID:33749171|PMID:34188062
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:4362	cervical cancer		ISO	RGD:1343997	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:5723	optic atrophy		ISO	RGD:1343997	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:630	genetic disease		ISO	RGD:1343997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10577920|PMID:15786477|PMID:19668216|PMID:25741868|PMID:26748598|PMID:27401686|PMID:28492532|PMID:29186038|PMID:33749171|PMID:34188062
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:674	cleft palate		ISO	RGD:1343997	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:15786477|PMID:19668216|PMID:25741868|PMID:26748598|PMID:27401686|PMID:28492532|PMID:29186038|PMID:33749171|PMID:34188062
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:850	lung disease		ISO	RGD:1343997	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:15786477|PMID:19668216|PMID:25741868|PMID:26748598|PMID:27401686|PMID:28492532|PMID:29186038|PMID:33749171|PMID:34188062
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:8501	fundus dystrophy		ISO	RGD:1343997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:15786477|PMID:19668216|PMID:23034536|PMID:23386033|PMID:25741868|PMID:25999675|PMID:28125082|PMID:28492532|PMID:29186038|PMID:34188062|PMID:36460718|PMID:38465142
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:9000343	Vision Disorders		ISO	RGD:1343997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:23034536|PMID:23847139|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29186038|PMID:34188062
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1343997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19668215|PMID:19668216
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:9002525	Hereditary Eye Diseases		ISO	RGD:1343997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19668215
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:9005616	Micrognathism		ISO	RGD:1343997	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:15786477|PMID:19668216|PMID:25741868|PMID:26748598|PMID:27401686|PMID:28492532|PMID:29186038|PMID:33749171|PMID:34188062
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343997	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:9006992	MORM Syndrome		ISO	RGD:1343997	D	RGD:7240710	20180130	OMIM			
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:9006992	MORM Syndrome		ISO	RGD:1343997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INPP5E-related condition | ClinVar Annotator: match by term: MORM syndrome	PMID:15786477|PMID:17576681|PMID:19668215|PMID:19668216|PMID:23034536|PMID:23386033|PMID:23847139|PMID:25741868|PMID:25818971|PMID:25999675|PMID:26075876|PMID:26092869|PMID:26748598|PMID:27353947|PMID:27401686|PMID:28125082|PMID:28454995|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28771248|PMID:29052317|PMID:29186038|PMID:29230161|PMID:29555955|PMID:29915382|PMID:30202406|PMID:31589614|PMID:32483926|PMID:33749171|PMID:34188062|PMID:34234304|PMID:34906470|PMID:36460718|PMID:36909829|PMID:38465142|PMID:9536098
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:9007769	Pseudarthrosis		ISO	RGD:1343997	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Pseudoarthrosis	PMID:15786477|PMID:19668216|PMID:25741868|PMID:26748598|PMID:27401686|PMID:28492532|PMID:29186038|PMID:33749171|PMID:34188062
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:9970	obesity		ISO	RGD:1332343	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle, white adipose tissue	PMID:23349329|REF_RGD_ID:12911211
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:9970	obesity		ISO	RGD:1343997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19668215
8769532	Inpp5e	inositol polyphosphate-5-phosphatase E	gene	DOID:9970	obesity	treatment	ISO	RGD:620478	D	RGD:9068941	20200609	RGD			PMID:23349329|REF_RGD_ID:12911211
8769547	Ints4	integrator complex subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769547	Ints4	integrator complex subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8769547	Ints4	integrator complex subunit 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8769547	Ints4	integrator complex subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8769547	Ints4	integrator complex subunit 4	gene	DOID:3070	high grade glioma		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8769547	Ints4	integrator complex subunit 4	gene	DOID:3275	thymoma		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8769547	Ints4	integrator complex subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8769547	Ints4	integrator complex subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769547	Ints4	integrator complex subunit 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8769547	Ints4	integrator complex subunit 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1603936	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24763052
8769547	Ints4	integrator complex subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8769583	Rtf2	replication termination factor 2	gene	DOID:1909	melanoma		ISO	RGD:1322335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8769583	Rtf2	replication termination factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8769583	Rtf2	replication termination factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769583	Rtf2	replication termination factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8769596	Mip	major intrinsic protein of lens fiber	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8769596	Mip	major intrinsic protein of lens fiber	gene	DOID:0060282	persistent hyperplastic primary vitreous		ISO	RGD:735323	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous	PMID:17893667|PMID:24120416|PMID:25741868|PMID:26694549|PMID:28492532|PMID:29770612
8769596	Mip	major intrinsic protein of lens fiber	gene	DOID:0110251	cataract 15 multiple types		ISO	RGD:735323	D	RGD:7240710	20180130	OMIM			
8769596	Mip	major intrinsic protein of lens fiber	gene	DOID:0110251	cataract 15 multiple types		ISO	RGD:735323	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CATARACT 15, MULTIPLE TYPES | ClinVar Annotator: match by term: Cataract 15 multiple types | ClinVar Annotator: match by term: MIP-related condition	PMID:16199547|PMID:16564824|PMID:17576681|PMID:17893667|PMID:18501347|PMID:20361015|PMID:21921980|PMID:24120416|PMID:24319327|PMID:24405844|PMID:25741868|PMID:25803033|PMID:26694549|PMID:27456987|PMID:28492532|PMID:29695758|PMID:29770612|PMID:30585525|PMID:38216115|PMID:9536098
8769596	Mip	major intrinsic protein of lens fiber	gene	DOID:10629	microphthalmia		ISO	RGD:735323	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25741868
8769596	Mip	major intrinsic protein of lens fiber	gene	DOID:1909	melanoma		ISO	RGD:735323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8769596	Mip	major intrinsic protein of lens fiber	gene	DOID:5844	myocardial infarction		ISO	RGD:735323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myocardial infarction	PMID:25741868
8769596	Mip	major intrinsic protein of lens fiber	gene	DOID:630	genetic disease		ISO	RGD:735323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8769596	Mip	major intrinsic protein of lens fiber	gene	DOID:83	cataract		ISO	RGD:735323	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:10802646
8769596	Mip	major intrinsic protein of lens fiber	gene	DOID:83	cataract		ISO	RGD:735323	D	RGD:9068941	20260604	RGD			PMID:10802646|REF_RGD_ID:1599936
8769596	Mip	major intrinsic protein of lens fiber	gene	DOID:9650	pathologic nystagmus		ISO	RGD:735323	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
8769604	Psme2	proteasome activator subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8769604	Psme2	proteasome activator subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769604	Psme2	proteasome activator subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:733724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8769604	Psme2	proteasome activator subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:733724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8769604	Psme2	proteasome activator subunit 2	gene	DOID:1909	melanoma		ISO	RGD:733724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8769604	Psme2	proteasome activator subunit 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:733724	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
8769604	Psme2	proteasome activator subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:733724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8769604	Psme2	proteasome activator subunit 2	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:733724	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8769604	Psme2	proteasome activator subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769604	Psme2	proteasome activator subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8769604	Psme2	proteasome activator subunit 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:733724	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8769604	Psme2	proteasome activator subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8769604	Psme2	proteasome activator subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8769626	Tmem52	transmembrane protein 52	gene	DOID:10534	stomach cancer		ISO	RGD:1603246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8769626	Tmem52	transmembrane protein 52	gene	DOID:1324	lung cancer		ISO	RGD:1603246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8769626	Tmem52	transmembrane protein 52	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769626	Tmem52	transmembrane protein 52	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8769626	Tmem52	transmembrane protein 52	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8769647	Pask	PAS domain containing serine/threonine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8769647	Pask	PAS domain containing serine/threonine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769647	Pask	PAS domain containing serine/threonine kinase	gene	DOID:0111704	chromosome 2q37 deletion syndrome		ISO	RGD:1314594	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:19365831
8769647	Pask	PAS domain containing serine/threonine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8769647	Pask	PAS domain containing serine/threonine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8769647	Pask	PAS domain containing serine/threonine kinase	gene	DOID:12849	autistic disorder		ISO	RGD:1314594	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19365831
8769647	Pask	PAS domain containing serine/threonine kinase	gene	DOID:1324	lung cancer		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8769647	Pask	PAS domain containing serine/threonine kinase	gene	DOID:1909	melanoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8769647	Pask	PAS domain containing serine/threonine kinase	gene	DOID:3070	high grade glioma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8769647	Pask	PAS domain containing serine/threonine kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8769647	Pask	PAS domain containing serine/threonine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8769647	Pask	PAS domain containing serine/threonine kinase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8769647	Pask	PAS domain containing serine/threonine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1314594	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8769647	Pask	PAS domain containing serine/threonine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769647	Pask	PAS domain containing serine/threonine kinase	gene	DOID:6039	uveal melanoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8769647	Pask	PAS domain containing serine/threonine kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8769647	Pask	PAS domain containing serine/threonine kinase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8769647	Pask	PAS domain containing serine/threonine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8769647	Pask	PAS domain containing serine/threonine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8769677	Ift46	intraflagellar transport 46	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769677	Ift46	intraflagellar transport 46	gene	DOID:1324	lung cancer		ISO	RGD:1604332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8769677	Ift46	intraflagellar transport 46	gene	DOID:3275	thymoma		ISO	RGD:1604332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8769677	Ift46	intraflagellar transport 46	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8769677	Ift46	intraflagellar transport 46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769677	Ift46	intraflagellar transport 46	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8769693	Micall1	MICAL like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8769693	Micall1	MICAL like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769693	Micall1	MICAL like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8769693	Micall1	MICAL like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8769693	Micall1	MICAL like 1	gene	DOID:1324	lung cancer		ISO	RGD:1602200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8769693	Micall1	MICAL like 1	gene	DOID:1909	melanoma		ISO	RGD:1602200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8769693	Micall1	MICAL like 1	gene	DOID:3275	thymoma		ISO	RGD:1602200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8769693	Micall1	MICAL like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8769693	Micall1	MICAL like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602200	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8769693	Micall1	MICAL like 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8769693	Micall1	MICAL like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769693	Micall1	MICAL like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8769715	Nup188	nucleoporin 188	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8769715	Nup188	nucleoporin 188	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769715	Nup188	nucleoporin 188	gene	DOID:0081272	Sandestig-Stefanova syndrome		ISO	RGD:1348104	D	RGD:7240710	20200318	OMIM			
8769715	Nup188	nucleoporin 188	gene	DOID:0081272	Sandestig-Stefanova syndrome		ISO	RGD:1348104	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NUP188-related condition | ClinVar Annotator: match by term: SANDESTIG-STEFANOVA SYNDROME | ClinVar Annotator: match by term: Sandestig-stefanova syndrome	PMID:25741868|PMID:28492532
8769715	Nup188	nucleoporin 188	gene	DOID:10534	stomach cancer		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8769715	Nup188	nucleoporin 188	gene	DOID:10907	microcephaly		ISO	RGD:1348104	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:32275884
8769715	Nup188	nucleoporin 188	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8769715	Nup188	nucleoporin 188	gene	DOID:1115	sarcoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8769715	Nup188	nucleoporin 188	gene	DOID:11162	respiratory failure		ISO	RGD:1348104	D	RGD:9068941	20230330	RGD		DNA:frameshift mutations, nonsense mutations:CDS:multiple (human)	PMID:32275884|REF_RGD_ID:243048418
8769715	Nup188	nucleoporin 188	gene	DOID:11383	cryptorchidism		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism	PMID:25741868
8769715	Nup188	nucleoporin 188	gene	DOID:1324	lung cancer		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8769715	Nup188	nucleoporin 188	gene	DOID:1909	melanoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8769715	Nup188	nucleoporin 188	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8769715	Nup188	nucleoporin 188	gene	DOID:3275	thymoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8769715	Nup188	nucleoporin 188	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8769715	Nup188	nucleoporin 188	gene	DOID:4362	cervical cancer		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8769715	Nup188	nucleoporin 188	gene	DOID:5041	esophageal cancer		ISO	RGD:1348104	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8769715	Nup188	nucleoporin 188	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8769715	Nup188	nucleoporin 188	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769715	Nup188	nucleoporin 188	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8769715	Nup188	nucleoporin 188	gene	DOID:630	genetic disease		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8769715	Nup188	nucleoporin 188	gene	DOID:674	cleft palate		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
8769715	Nup188	nucleoporin 188	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8769715	Nup188	nucleoporin 188	gene	DOID:83	cataract		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868
8769715	Nup188	nucleoporin 188	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8769715	Nup188	nucleoporin 188	gene	DOID:9005616	Micrognathism		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
8769715	Nup188	nucleoporin 188	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8769715	Nup188	nucleoporin 188	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8769715	Nup188	nucleoporin 188	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050741	alcohol dependence		ISO	RGD:1308198	D	RGD:9068941	20240905	RGD		associated with Sleep Deprivation;protein:increased expression:brain	PMID:33662520|REF_RGD_ID:401900733
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050741	alcohol dependence		ISO	RGD:1308198	D	RGD:9068941	20240905	RGD		protein:increased expression:nucleus accumbens (rat)	PMID:19324071|REF_RGD_ID:401901600
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050741	alcohol dependence	treatment	ISO	RGD:1308198	D	RGD:9068941	20231102	RGD			PMID:20626732|REF_RGD_ID:401851075
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050742	nicotine dependence		ISO	RGD:1308198	D	RGD:9068941	20241003	RGD		protein:increased expression:nucleus accumbens, dentate gyrus of hippocampal formation (rat)	PMID:17333132|REF_RGD_ID:407571683
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050742	nicotine dependence		ISO	RGD:1317838	D	RGD:9068941	20240831	RGD			PMID:17468183|REF_RGD_ID:401900124
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:1317837	D	RGD:9068941	20220825	RGD		protein:increased expression:tongue (human)	PMID:26581505|REF_RGD_ID:11535375
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0060001	withdrawal disorder		ISO	RGD:1308198	D	RGD:9068941	20231109	RGD		associated with morphine dependence;protein:increased expression:Brainstem (rat)	PMID:20438612|REF_RGD_ID:401900159
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0080600	COVID-19		ISO	RGD:1317837	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:10937	impulse control disorder		ISO	RGD:1317837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539927
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:11206	opioid abuse		ISO	RGD:1308198	D	RGD:9068941	20231130	RGD		protein:increased expression:Prefrontal Cortex, nucleus accumbens (rat)	PMID:30632799|REF_RGD_ID:401901180
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1324	lung cancer		ISO	RGD:1317837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1561	cognitive disorder		ISO	RGD:1317837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24067299
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1574	alcohol use disorder		ISO	RGD:1317838	D	RGD:9068941	20231130	RGD		protein:increased expression:brain (mouse)	PMID:9835277|REF_RGD_ID:401901184
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1574	alcohol use disorder		ISO	RGD:1317838	D	RGD:9068941	20231209	RGD		protein:increased expression:dorsal striatum (mouse)	PMID:27380261|REF_RGD_ID:401901287
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:1308198	D	RGD:9068941	20231109	RGD			PMID:22792289|REF_RGD_ID:401851082
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1596	depressive disorder		ISO	RGD:1317837	D	RGD:9068941	20231207	RGD		protein:decreased expression: hippocampus (human)	PMID:27494187|REF_RGD_ID:401851061
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1826	epilepsy		ISO	RGD:1317837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16391389
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:2560	morphine dependence		ISO	RGD:1308198	D	RGD:9068941	20231209	RGD		associated with pregnancy complications; protein:increased expression:brain (rat)	PMID:33592274|REF_RGD_ID:401901281
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:2560	morphine dependence		ISO	RGD:1308198	D	RGD:9068941	20240905	RGD		associated with alcohol dependence; protein:increased expression:nucleus accumbens, caudate-putamen (rat)	PMID:19324071|REF_RGD_ID:401901600
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:2560	morphine dependence	ameliorates	ISO	RGD:1308198	D	RGD:9068941	20231207	RGD		protein:increased expression:brain (rat)	PMID:23185589|REF_RGD_ID:401851068
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:2560	morphine dependence	treatment	ISO	RGD:1308198	D	RGD:9068941	20240831	RGD		associated with acute stress disorder	PMID:31442272|REF_RGD_ID:401851072
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:2560	morphine dependence	treatment	ISO	RGD:1317838	D	RGD:9068941	20241003	RGD			PMID:17331503|PMID:30632088|REF_RGD_ID:401901284|REF_RGD_ID:407571675
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1317837	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:480	movement disease		ISO	RGD:1317837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10600402
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:670	amphetamine abuse		ISO	RGD:1308198	D	RGD:9068941	20231130	RGD		protein:increased expression:brain (rat)	PMID:31373119|REF_RGD_ID:401900735
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:670	amphetamine abuse		ISO	RGD:1308198	D	RGD:9068941	20231216	RGD		associated with stress related disorder;protein:increased expression:brain (rat)	PMID:27672362|REF_RGD_ID:401901183
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:670	amphetamine abuse		ISO	RGD:1317838	D	RGD:9068941	20231118	RGD		protein:increased expression:ventral tegmental area, nucleus accumbens (mouse)	PMID:28782589|REF_RGD_ID:401900303
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1317837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:809	cocaine abuse		ISO	RGD:1308198	D	RGD:9068941	20231111	RGD		associated with alcohol dependence;protein:increased expression: caudate-putamen (rat)	PMID:17572394|REF_RGD_ID:401900302
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:809	cocaine abuse		ISO	RGD:1317838	D	RGD:9068941	20240831	RGD			PMID:9294222|REF_RGD_ID:407446380
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:1317837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26411935
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9002735	alcohol withdrawal syndrome	disease_progression	ISO	RGD:1317838	D	RGD:9068941	20240831	RGD		protein:increased expression:primary motor cortex, secondary motor cortex, ventral tegmental area (mouse)	PMID:24355551|REF_RGD_ID:401851085
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1317837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1317837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:12657709|PMID:17898221|PMID:18539927|PMID:19331462
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1317837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26411935
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9008331	Tendon Injuries	treatment	ISO	RGD:1308198	D	RGD:9068941	20200609	RGD			PMID:23519232|REF_RGD_ID:10395300
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9008394	Drug-Induced Dyskinesia		ISO	RGD:1317837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17219962
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9008675	Dyskinesias		ISO	RGD:1317838	D	RGD:9068941	20250731	RGD			PMID:17055656|REF_RGD_ID:617301266
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9973	substance dependence		ISO	RGD:1317837	D	RGD:9068941	20231207	RGD		protein:decreased expression: hippocampus (human)	PMID:27494187|REF_RGD_ID:401851061
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9975	cocaine dependence		ISO	RGD:1308198	D	RGD:9068941	20231109	RGD		protein:increased expression:Brain (rat)	PMID:23665060|REF_RGD_ID:401851078
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9975	cocaine dependence		ISO	RGD:1308198	D	RGD:9068941	20231207	RGD		mRNA,protein:increased expression:Nucleus Accumbens, Caudate Putamen (rat)	PMID:20633205|REF_RGD_ID:401900126
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9975	cocaine dependence		ISO	RGD:1308198	D	RGD:9068941	20231207	RGD		protein:increased expression:Nucleus Accumbens, Caudate Putamen (rat)	PMID:25522720|REF_RGD_ID:401851063
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9975	cocaine dependence		ISO	RGD:1317838	D	RGD:9068941	20231209	RGD		protein:increased expression:dorsal striatum, nucelus accumbens (mouse)	PMID:27380261|REF_RGD_ID:401901287
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9975	cocaine dependence	ameliorates	ISO	RGD:1308198	D	RGD:9068941	20231109	RGD			PMID:22403532|REF_RGD_ID:401851084
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9975	cocaine dependence	treatment	ISO	RGD:1308198	D	RGD:9068941	20231130	RGD			PMID:27664298|REF_RGD_ID:401900166
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9976	heroin dependence	ameliorates	ISO	RGD:1308198	D	RGD:9068941	20231214	RGD			PMID:21362452|PMID:23062870|REF_RGD_ID:401901181|REF_RGD_ID:401901182
8769766	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9976	heroin dependence	treatment	ISO	RGD:1308198	D	RGD:9068941	20241003	RGD			PMID:17165513|REF_RGD_ID:407571685
8769781	Catsper4	cation channel sperm associated 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769781	Catsper4	cation channel sperm associated 4	gene	DOID:1115	sarcoma		ISO	RGD:1350186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8769781	Catsper4	cation channel sperm associated 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8769781	Catsper4	cation channel sperm associated 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8769781	Catsper4	cation channel sperm associated 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8769781	Catsper4	cation channel sperm associated 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1350186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8769812	Ptger1	prostaglandin E receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769812	Ptger1	prostaglandin E receptor 1	gene	DOID:10808	gastric ulcer	treatment	ISO	RGD:3434	D	RGD:9068941	20200609	RGD			PMID:10807413|REF_RGD_ID:10043357
8769812	Ptger1	prostaglandin E receptor 1	gene	DOID:10808	gastric ulcer	treatment	ISO	RGD:735522	D	RGD:9068941	20200609	RGD			PMID:10807413|REF_RGD_ID:10043357
8769812	Ptger1	prostaglandin E receptor 1	gene	DOID:11111	hydronephrosis		ISO	RGD:733054	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30641090
8769812	Ptger1	prostaglandin E receptor 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:733054	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21739481
8769812	Ptger1	prostaglandin E receptor 1	gene	DOID:1876	sexual dysfunction		ISO	RGD:733054	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18726914
8769812	Ptger1	prostaglandin E receptor 1	gene	DOID:299	adenocarcinoma		ISO	RGD:733054	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11751431
8769812	Ptger1	prostaglandin E receptor 1	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:733054	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11751431
8769812	Ptger1	prostaglandin E receptor 1	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:3434	D	RGD:9068941	20260514	RGD		mRNA:increased expression:lung	PMID:29115963|REF_RGD_ID:713349442
8769812	Ptger1	prostaglandin E receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769812	Ptger1	prostaglandin E receptor 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:733054	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11751431
8769812	Ptger1	prostaglandin E receptor 1	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:3434	D	RGD:9068941	20260402	RGD		protein:increased dimerization:retina	PMID:19264896|REF_RGD_ID:640480080
8769812	Ptger1	prostaglandin E receptor 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:3434	D	RGD:9068941	20260402	RGD		associated with sciatic neuropathy	PMID:17413918|REF_RGD_ID:5688169
8769812	Ptger1	prostaglandin E receptor 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:733054	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11375261
8769812	Ptger1	prostaglandin E receptor 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:733054	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11751431
8769812	Ptger1	prostaglandin E receptor 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:3434	D	RGD:9068941	20260402	RGD		mRNA:increased expression:hippocampus	PMID:26910812|REF_RGD_ID:644650471
8769812	Ptger1	prostaglandin E receptor 1	gene	DOID:9415	allergic asthma		ISO	RGD:735522	D	RGD:9068941	20251106	RGD		mRNA:increased expression:lobe of lung	PMID:19878559|REF_RGD_ID:5135514
8769838	Ackr5	atypical chemokine receptor 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8769838	Ackr5	atypical chemokine receptor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769838	Ackr5	atypical chemokine receptor 5	gene	DOID:6432	pulmonary hypertension		ISO	RGD:61903	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:12622928|REF_RGD_ID:1625768
8769838	Ackr5	atypical chemokine receptor 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736455	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8769850	Asb4	ankyrin repeat and SOCS box containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769850	Asb4	ankyrin repeat and SOCS box containing 4	gene	DOID:10591	pre-eclampsia		ISO	RGD:1557659	D	RGD:9068941	20220825	MouseDO		OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592	
8769850	Asb4	ankyrin repeat and SOCS box containing 4	gene	DOID:3070	high grade glioma		ISO	RGD:1348810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8769850	Asb4	ankyrin repeat and SOCS box containing 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1348810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8769850	Asb4	ankyrin repeat and SOCS box containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8769850	Asb4	ankyrin repeat and SOCS box containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8769859	Prdm5	PR/SET domain 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8769859	Prdm5	PR/SET domain 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769859	Prdm5	PR/SET domain 5	gene	DOID:0080729	brittle cornea syndrome 2		ISO	RGD:1318295	D	RGD:7240710	20180130	OMIM			
8769859	Prdm5	PR/SET domain 5	gene	DOID:0080729	brittle cornea syndrome 2		ISO	RGD:1318295	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BRITTLE CORNEA SYNDROME 2 | ClinVar Annotator: match by term: Brittle cornea syndrome 2 | ClinVar Annotator: match by term: PRDM5-related condition	PMID:16199547|PMID:17576681|PMID:21664999|PMID:25741868|PMID:26395458|PMID:28492532|PMID:31829210|PMID:33739556|PMID:34008892|PMID:36703223|PMID:37629506|PMID:37710225|PMID:39411402|PMID:39425040|PMID:9536098
8769859	Prdm5	PR/SET domain 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8769859	Prdm5	PR/SET domain 5	gene	DOID:1115	sarcoma		ISO	RGD:1318295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8769859	Prdm5	PR/SET domain 5	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:1318295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:25741868|PMID:28492532
8769859	Prdm5	PR/SET domain 5	gene	DOID:14775	brittle cornea syndrome 1		ISO	RGD:11593488|RGD:11597849	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility	PMID:28492532
8769859	Prdm5	PR/SET domain 5	gene	DOID:4362	cervical cancer		ISO	RGD:1318295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8769859	Prdm5	PR/SET domain 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8769859	Prdm5	PR/SET domain 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1318295	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8769859	Prdm5	PR/SET domain 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:25741868
8769859	Prdm5	PR/SET domain 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8769859	Prdm5	PR/SET domain 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8769859	Prdm5	PR/SET domain 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8769880	Exoc3	exocyst complex component 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769880	Exoc3	exocyst complex component 3	gene	DOID:10534	stomach cancer		ISO	RGD:1344149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8769880	Exoc3	exocyst complex component 3	gene	DOID:1324	lung cancer		ISO	RGD:1344149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8769880	Exoc3	exocyst complex component 3	gene	DOID:1909	melanoma		ISO	RGD:1344149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8769880	Exoc3	exocyst complex component 3	gene	DOID:4362	cervical cancer		ISO	RGD:1344149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8769880	Exoc3	exocyst complex component 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769880	Exoc3	exocyst complex component 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8769880	Exoc3	exocyst complex component 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344149	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8769880	Exoc3	exocyst complex component 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8769880	Exoc3	exocyst complex component 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8769880	Exoc3	exocyst complex component 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344149	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8769915	Adap2	ArfGAP with dual PH domains 2	gene	DOID:0080600	COVID-19		ISO	RGD:734306	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8769915	Adap2	ArfGAP with dual PH domains 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8769915	Adap2	ArfGAP with dual PH domains 2	gene	DOID:1115	sarcoma		ISO	RGD:734306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8769915	Adap2	ArfGAP with dual PH domains 2	gene	DOID:1909	melanoma		ISO	RGD:734306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8769915	Adap2	ArfGAP with dual PH domains 2	gene	DOID:3070	high grade glioma		ISO	RGD:734306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8769915	Adap2	ArfGAP with dual PH domains 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769915	Adap2	ArfGAP with dual PH domains 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8769933	Casp8	caspase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769933	Casp8	caspase 8	gene	DOID:0060071	pre-malignant neoplasm	treatment	ISO	RGD:620945	D	RGD:9068941	20200609	RGD		associated with gastric adenocarcinoma	PMID:29588340|REF_RGD_ID:13792594
8769933	Casp8	caspase 8	gene	DOID:0081292	traumatic brain injury	disease_progression	ISO	RGD:620945	D	RGD:9068941	20241031	RGD			PMID:12172380|REF_RGD_ID:632018
8769933	Casp8	caspase 8	gene	DOID:0081292	traumatic brain injury	severity	ISO	RGD:620945	D	RGD:9068941	20241031	RGD			PMID:15307896|REF_RGD_ID:5509821
8769933	Casp8	caspase 8	gene	DOID:0110116	autoimmune lymphoproliferative syndrome type 2B		ISO	RGD:730846	D	RGD:7240710	20180328	OMIM			
8769933	Casp8	caspase 8	gene	DOID:0110116	autoimmune lymphoproliferative syndrome type 2B		ISO	RGD:730846	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B | ClinVar Annotator: match by term: Caspase-8 deficiency	PMID:12353035|PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:24033266|PMID:25640679|PMID:25741868|PMID:25814141|PMID:26193622|PMID:26556299|PMID:28492532|PMID:30267714|PMID:30337362|PMID:32135276|PMID:34362880|PMID:9536098
8769933	Casp8	caspase 8	gene	DOID:104	bacterial infectious disease		ISO	RGD:730847	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:16443785|REF_RGD_ID:2311430
8769933	Casp8	caspase 8	gene	DOID:10534	stomach cancer		ISO	RGD:730846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8769933	Casp8	caspase 8	gene	DOID:10652	Alzheimer's disease		ISO	RGD:730846	D	RGD:9068941	20200609	RGD			PMID:12633148|PMID:16772874|REF_RGD_ID:13782268|REF_RGD_ID:13782269
8769933	Casp8	caspase 8	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:29642617|REF_RGD_ID:13782291
8769933	Casp8	caspase 8	gene	DOID:10763	hypertension		ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:27929425|REF_RGD_ID:13782308
8769933	Casp8	caspase 8	gene	DOID:10952	nephritis	treatment	ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:28039298|REF_RGD_ID:13782307
8769933	Casp8	caspase 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8769933	Casp8	caspase 8	gene	DOID:11166	Human papillomavirus infectious disease		ISO	RGD:730846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23358896
8769933	Casp8	caspase 8	gene	DOID:114	heart disease		ISO	RGD:620945	D	RGD:9068941	20200609	RGD		associated with Multiple Trauma	PMID:28825094|REF_RGD_ID:13782301
8769933	Casp8	caspase 8	gene	DOID:11446	sciatic neuropathy		ISO	RGD:620945	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dorsal root ganglion	PMID:29659443|REF_RGD_ID:13782273
8769933	Casp8	caspase 8	gene	DOID:11650	bronchopulmonary dysplasia		ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:26431790|REF_RGD_ID:11537057
8769933	Casp8	caspase 8	gene	DOID:12858	Huntington's disease		ISO	RGD:730846	D	RGD:9068941	20200609	RGD		protein:altered localization:cerebellum:	PMID:10197541|REF_RGD_ID:734695
8769933	Casp8	caspase 8	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:26004897|REF_RGD_ID:13782348
8769933	Casp8	caspase 8	gene	DOID:1324	lung cancer		ISO	RGD:730846	D	RGD:7240710	20240124	OMIM			
8769933	Casp8	caspase 8	gene	DOID:1324	lung cancer		ISO	RGD:730846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LUNG CANCER, PROTECTION AGAINST | ClinVar Annotator: match by term: Lung cancer	PMID:17450141|PMID:18305469|PMID:25741868|PMID:28492532
8769933	Casp8	caspase 8	gene	DOID:1324	lung cancer		ISO	RGD:730846	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LUNG CANCER, PROTECTION AGAINST | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	PMID:25741868|PMID:28492532
8769933	Casp8	caspase 8	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:730846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:15531912|PMID:24816188|PMID:34362880|PMID:35101336
8769933	Casp8	caspase 8	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:620945	D	RGD:9068941	20250329	RGD			PMID:30926569|REF_RGD_ID:598092600
8769933	Casp8	caspase 8	gene	DOID:1612	breast cancer		ISO	RGD:730846	D	RGD:7240710	20180711	OMIM			
8769933	Casp8	caspase 8	gene	DOID:1612	breast cancer		ISO	RGD:730846	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, PROTECTION AGAINST	PMID:24033266|PMID:25741868|PMID:28492532
8769933	Casp8	caspase 8	gene	DOID:1793	pancreatic cancer		ISO	RGD:730846	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1045485 (human)	PMID:19843670|REF_RGD_ID:2317230
8769933	Casp8	caspase 8	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:730846	D	RGD:9068941	20200609	RGD		DNA:deletion, insertion:promoter (human)	PMID:18483392|REF_RGD_ID:2315744
8769933	Casp8	caspase 8	gene	DOID:1824	status epilepticus		ISO	RGD:620945	D	RGD:9068941	20200609	RGD		protein:increased activity:hippocampus	PMID:15036620|REF_RGD_ID:2311439
8769933	Casp8	caspase 8	gene	DOID:1824	status epilepticus		ISO	RGD:730846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18571097
8769933	Casp8	caspase 8	gene	DOID:1826	epilepsy	treatment	ISO	RGD:620945	D	RGD:9068941	20241107	RGD			PMID:11493022|REF_RGD_ID:408361845
8769933	Casp8	caspase 8	gene	DOID:1909	melanoma		ISO	RGD:730846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18563783|PMID:21983787
8769933	Casp8	caspase 8	gene	DOID:224	transient cerebral ischemia		ISO	RGD:620945	D	RGD:9068941	20220527	RGD		protein:increased expression:cerebral cortex:	PMID:18096138|REF_RGD_ID:4142863
8769933	Casp8	caspase 8	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:30148677|REF_RGD_ID:13782286
8769933	Casp8	caspase 8	gene	DOID:2773	contact dermatitis		ISO	RGD:730846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
8769933	Casp8	caspase 8	gene	DOID:299	adenocarcinoma		ISO	RGD:730846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472143
8769933	Casp8	caspase 8	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:730846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
8769933	Casp8	caspase 8	gene	DOID:3083	chronic obstructive pulmonary disease	treatment	ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:28496315|REF_RGD_ID:13782303
8769933	Casp8	caspase 8	gene	DOID:3310	atopic dermatitis		ISO	RGD:730847	D	RGD:9068941	20220825	MouseDO		OMIM:603165	
8769933	Casp8	caspase 8	gene	DOID:3748	esophagus squamous cell carcinoma	exacerbates	ISO	RGD:730846	D	RGD:9068941	20220811	RGD		mRNA,protein:decreased expression:esophagus squamous epithelium (human)	PMID:31885720|REF_RGD_ID:153300949
8769933	Casp8	caspase 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:730846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8769933	Casp8	caspase 8	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:730846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20471133
8769933	Casp8	caspase 8	gene	DOID:417	autoimmune disease		ISO	RGD:730846	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent	PMID:17880769|REF_RGD_ID:2311245
8769933	Casp8	caspase 8	gene	DOID:4195	hyperglycemia		ISO	RGD:730847	D	RGD:9068941	20200609	RGD			PMID:19194987|REF_RGD_ID:2311428
8769933	Casp8	caspase 8	gene	DOID:4362	cervical cancer		ISO	RGD:730846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8769933	Casp8	caspase 8	gene	DOID:4914	esophagus adenocarcinoma	onset	ISO	RGD:730846	D	RGD:9068941	20210521	RGD		DNA:SNP:5'utr: (rs1035142) (human)	PMID:21472143|REF_RGD_ID:126925218
8769933	Casp8	caspase 8	gene	DOID:5082	liver cirrhosis		ISO	RGD:730847	D	RGD:9068941	20200609	RGD		associated with cholestasis	PMID:29105510|REF_RGD_ID:13782297
8769933	Casp8	caspase 8	gene	DOID:5327	retinal detachment	treatment	ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:28633009|REF_RGD_ID:13782302
8769933	Casp8	caspase 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:730846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8769933	Casp8	caspase 8	gene	DOID:557	kidney disease		ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:29257007|REF_RGD_ID:13782293
8769933	Casp8	caspase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769933	Casp8	caspase 8	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:730846	D	RGD:9068941	20200609	RGD			PMID:12353035|REF_RGD_ID:734696
8769933	Casp8	caspase 8	gene	DOID:630	genetic disease		ISO	RGD:730846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8769933	Casp8	caspase 8	gene	DOID:6688	autoimmune lymphoproliferative syndrome		ISO	RGD:730846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8769933	Casp8	caspase 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730846	D	RGD:7240710	20180130	OMIM			
8769933	Casp8	caspase 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA	PMID:25741868|PMID:28492532
8769933	Casp8	caspase 8	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:730846	D	RGD:9068941	20200609	RGD		associated with hepatitis B;DNA:insertion/deletion:promoter: (rs3834129) (human)	PMID:28643196|REF_RGD_ID:14695027
8769933	Casp8	caspase 8	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:29133031|REF_RGD_ID:13782296
8769933	Casp8	caspase 8	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:730846	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:30673822
8769933	Casp8	caspase 8	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:730846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17450141|PMID:21472143
8769933	Casp8	caspase 8	gene	DOID:9000197	Edema		ISO	RGD:730846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19874808
8769933	Casp8	caspase 8	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:730846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17450141
8769933	Casp8	caspase 8	gene	DOID:9000469	Viral Myocarditis		ISO	RGD:730847	D	RGD:9068941	20200609	RGD			PMID:21055654|REF_RGD_ID:13702877
8769933	Casp8	caspase 8	gene	DOID:9000855	Experimental Radiation Injuries	treatment	ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:24939579|REF_RGD_ID:13782350
8769933	Casp8	caspase 8	gene	DOID:9000998	Brain Injuries		ISO	RGD:620945	D	RGD:9068941	20200609	RGD		protein:altered localization	PMID:15590916|REF_RGD_ID:1624191
8769933	Casp8	caspase 8	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:620945	D	RGD:9068941	20200609	RGD		associated with Brain Injuries, Traumatic	PMID:29061477|REF_RGD_ID:13782298
8769933	Casp8	caspase 8	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:23423194|REF_RGD_ID:8661760
8769933	Casp8	caspase 8	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:730847	D	RGD:9068941	20200609	RGD			PMID:15300206|REF_RGD_ID:14695087
8769933	Casp8	caspase 8	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:620945	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:29606028|REF_RGD_ID:13792586
8769933	Casp8	caspase 8	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:620945	D	RGD:9068941	20200609	RGD		associated with type 2 diabetes mellitus	PMID:28456626|REF_RGD_ID:13782304
8769933	Casp8	caspase 8	gene	DOID:9002311	Experimental Autoimmune Myocarditis	treatment	ISO	RGD:730847	D	RGD:9068941	20200609	RGD			PMID:23833961|REF_RGD_ID:13702874
8769933	Casp8	caspase 8	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:730846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17971790
8769933	Casp8	caspase 8	gene	DOID:9002676	Cerebral Hemorrhage	treatment	ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:28096675|REF_RGD_ID:13782306
8769933	Casp8	caspase 8	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:620945	D	RGD:9068941	20200609	RGD		protein:increased activity, increased expression:spinal cord	PMID:18521931|REF_RGD_ID:2311436
8769933	Casp8	caspase 8	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:730846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17450141
8769933	Casp8	caspase 8	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:23046993|REF_RGD_ID:13782359
8769933	Casp8	caspase 8	gene	DOID:9003676	Brain Hypoxia-Ischemia	treatment	ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:29635023|REF_RGD_ID:13782292
8769933	Casp8	caspase 8	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:730846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23875703
8769933	Casp8	caspase 8	gene	DOID:9004332	Osteoarthritis, Experimental	treatment	ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:29621761|REF_RGD_ID:13782275
8769933	Casp8	caspase 8	gene	DOID:9004354	Alcohol-Related Disorders	treatment	ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:30118883|REF_RGD_ID:13782287
8769933	Casp8	caspase 8	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:730846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18563783
8769933	Casp8	caspase 8	gene	DOID:9004484	Sepsis		ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:18570579|REF_RGD_ID:2311435
8769933	Casp8	caspase 8	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:29180187|REF_RGD_ID:13782295
8769933	Casp8	caspase 8	gene	DOID:9004590	Acute Liver Failure	treatment	ISO	RGD:730847	D	RGD:9068941	20200609	RGD			PMID:12810955|REF_RGD_ID:14695025
8769933	Casp8	caspase 8	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:29755641|REF_RGD_ID:13782288
8769933	Casp8	caspase 8	gene	DOID:9005020	Brain Contusion	treatment	ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:28140659|REF_RGD_ID:13782305
8769933	Casp8	caspase 8	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:730846	D	RGD:9068941	20240125	CTD		CTD Direct Evidence: marker/mechanism	PMID:17450141
8769933	Casp8	caspase 8	gene	DOID:9005233	Experimental Mammary Neoplasms	severity	ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:20732338|REF_RGD_ID:10053708
8769933	Casp8	caspase 8	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:730846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
8769933	Casp8	caspase 8	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620945	D	RGD:9068941	20200609	RGD		protein:increased activity, increased expression:pituitary gland, prolactin secreting cell	PMID:15976052|REF_RGD_ID:2311319
8769933	Casp8	caspase 8	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620945	D	RGD:9068941	20200609	RGD		protein:increased expression, increased activity:pituitary gland	PMID:19540304|REF_RGD_ID:2311427
8769933	Casp8	caspase 8	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:730847	D	RGD:9068941	20200609	RGD			PMID:17563067|REF_RGD_ID:2311429
8769933	Casp8	caspase 8	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:28843149|REF_RGD_ID:13782300
8769933	Casp8	caspase 8	gene	DOID:9006945	Diabetic Cardiomyopathies	treatment	ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:28992627|REF_RGD_ID:13782299
8769933	Casp8	caspase 8	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:620945	D	RGD:9068941	20250329	RGD			PMID:25447754|PMID:30926569|REF_RGD_ID:10053709|REF_RGD_ID:598092600
8769933	Casp8	caspase 8	gene	DOID:9007692	Insulin Resistance		ISO	RGD:620945	D	RGD:9068941	20200609	RGD			PMID:29748970|REF_RGD_ID:13782289
8769933	Casp8	caspase 8	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:620945	D	RGD:9068941	20200609	RGD		protein:increased activity:cardiomyocyte	PMID:11934844|REF_RGD_ID:13782263
8769933	Casp8	caspase 8	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:730846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14998631
8769933	Casp8	caspase 8	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:730846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17450141
8769933	Casp8	caspase 8	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15601643|PMID:17293864|PMID:17450141|PMID:29915430
8769933	Casp8	caspase 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730846	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8769933	Casp8	caspase 8	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15531508
8769933	Casp8	caspase 8	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730847	D	RGD:9068941	20200609	RGD			PMID:17563067|REF_RGD_ID:2311429
8769933	Casp8	caspase 8	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:730847	D	RGD:9068941	20200609	RGD			PMID:12753807|REF_RGD_ID:2311431
8769933	Casp8	caspase 8	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:730846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22010212
8769955	B3galnt2	beta-1,3-N-acetylgalactosaminyltransferase 2	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1345395	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8769955	B3galnt2	beta-1,3-N-acetylgalactosaminyltransferase 2	gene	DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11		ISO	RGD:1345395	D	RGD:7240710	20180130	OMIM			
8769955	B3galnt2	beta-1,3-N-acetylgalactosaminyltransferase 2	gene	DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11		ISO	RGD:1345395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A11 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11	PMID:16199547|PMID:17576681|PMID:23453667|PMID:24084573|PMID:25326635|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26663670|PMID:28492532|PMID:29273094|PMID:29302074|PMID:31130284|PMID:31428121|PMID:33200426|PMID:33290285|PMID:35338537|PMID:38649797|PMID:9536098
8769955	B3galnt2	beta-1,3-N-acetylgalactosaminyltransferase 2	gene	DOID:0112374	muscular dystrophy-dystroglycanopathy		ISO	RGD:1345395	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy	PMID:23453667|PMID:25741868|PMID:28492532
8769955	B3galnt2	beta-1,3-N-acetylgalactosaminyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8769955	B3galnt2	beta-1,3-N-acetylgalactosaminyltransferase 2	gene	DOID:11830	myopia		ISO	RGD:1345395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8769955	B3galnt2	beta-1,3-N-acetylgalactosaminyltransferase 2	gene	DOID:3275	thymoma		ISO	RGD:1345395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8769955	B3galnt2	beta-1,3-N-acetylgalactosaminyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8769955	B3galnt2	beta-1,3-N-acetylgalactosaminyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769955	B3galnt2	beta-1,3-N-acetylgalactosaminyltransferase 2	gene	DOID:630	genetic disease		ISO	RGD:1345395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:23453667|PMID:25741868|PMID:28492532|PMID:31130284
8769971	Dctn5	dynactin subunit 5	gene	DOID:1115	sarcoma		ISO	RGD:1603378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8769971	Dctn5	dynactin subunit 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8769971	Dctn5	dynactin subunit 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8769971	Dctn5	dynactin subunit 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8769971	Dctn5	dynactin subunit 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8769971	Dctn5	dynactin subunit 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8769986	CUNH8orf74	chromosome unknown C8orf74 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8769986	CUNH8orf74	chromosome unknown C8orf74 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1606427	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8769986	CUNH8orf74	chromosome unknown C8orf74 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1606427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8769986	CUNH8orf74	chromosome unknown C8orf74 homolog	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8769986	CUNH8orf74	chromosome unknown C8orf74 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8769986	CUNH8orf74	chromosome unknown C8orf74 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8769994	Plac1	placenta associated 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8769994	Plac1	placenta associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770015	Afap1l1	actin filament associated protein 1 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8770015	Afap1l1	actin filament associated protein 1 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8770015	Afap1l1	actin filament associated protein 1 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8770015	Afap1l1	actin filament associated protein 1 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1606158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8770015	Afap1l1	actin filament associated protein 1 like 1	gene	DOID:440	neuromuscular disease		ISO	RGD:1606158	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
8770015	Afap1l1	actin filament associated protein 1 like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8770015	Afap1l1	actin filament associated protein 1 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8770015	Afap1l1	actin filament associated protein 1 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770015	Afap1l1	actin filament associated protein 1 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8770049	Nkx6-2	NK6 homeobox 2	gene	DOID:0080252	spastic ataxia 8		ISO	RGD:1316381	D	RGD:7240710	20190315	OMIM			
8770049	Nkx6-2	NK6 homeobox 2	gene	DOID:0080252	spastic ataxia 8		ISO	RGD:1316381	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NKX6-2-related condition | ClinVar Annotator: match by term: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY | ClinVar Annotator: match by term: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	PMID:25741868|PMID:28492532|PMID:28969374|PMID:29388673|PMID:31509304|PMID:32004679|PMID:34490615
8770049	Nkx6-2	NK6 homeobox 2	gene	DOID:630	genetic disease		ISO	RGD:1316381	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8770067	Shtn1	shootin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8770067	Shtn1	shootin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8770067	Shtn1	shootin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8770067	Shtn1	shootin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8770067	Shtn1	shootin 1	gene	DOID:1324	lung cancer		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8770067	Shtn1	shootin 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8770067	Shtn1	shootin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8770067	Shtn1	shootin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770092	Fkbp11	FKBP prolyl isomerase 11	gene	DOID:1909	melanoma		ISO	RGD:1314619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8770092	Fkbp11	FKBP prolyl isomerase 11	gene	DOID:3275	thymoma		ISO	RGD:1314619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8770092	Fkbp11	FKBP prolyl isomerase 11	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1314619	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8770092	Fkbp11	FKBP prolyl isomerase 11	gene	DOID:4362	cervical cancer		ISO	RGD:1314619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8770092	Fkbp11	FKBP prolyl isomerase 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8770092	Fkbp11	FKBP prolyl isomerase 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8770092	Fkbp11	FKBP prolyl isomerase 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8770092	Fkbp11	FKBP prolyl isomerase 11	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1314619	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:0050538	Charcot-Marie-Tooth disease type 1		ISO	RGD:1321976	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I	
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1321976	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4	
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25741868|PMID:28135719|PMID:28492532|PMID:32693025
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:0060249	scoliosis		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28135719|PMID:28492532|PMID:32693025
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:0110181	Charcot-Marie-Tooth disease axonal type 2Z		ISO	RGD:1321976	D	RGD:7240710	20180130	OMIM			
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:0110181	Charcot-Marie-Tooth disease axonal type 2Z		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Z | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2z	PMID:16199547|PMID:17576681|PMID:25741868|PMID:25741893|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27329773|PMID:27794525|PMID:28135719|PMID:28334961|PMID:28402445|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:29858556|PMID:30093560|PMID:30624633|PMID:31211173|PMID:31475037|PMID:31618753|PMID:31785789|PMID:32693025|PMID:33057194|PMID:33619735|PMID:34059105|PMID:34189813|PMID:34630290|PMID:34664855|PMID:35982159|PMID:36791574|PMID:37091313|PMID:37337996|PMID:37692502|PMID:38227798|PMID:39433808|PMID:39533303|PMID:9536098
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868|PMID:28135719|PMID:28492532|PMID:32693025
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:0111198	autosomal dominant distal hereditary motor neuronopathy		ISO	RGD:1321976	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy	PMID:26659848|PMID:28492532|PMID:31475037
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:0111428	essential tremor 1		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:1059	intellectual disability		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25741868|PMID:25741893|PMID:26497905|PMID:26659848|PMID:27105897|PMID:28492532|PMID:29440755|PMID:30624633|PMID:31211173|PMID:32693025|PMID:34059105|PMID:38227798
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:10863	paralytic squint		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paralytic strabismus	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:10907	microcephaly		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28135719|PMID:28492532|PMID:32693025
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:1115	sarcoma		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:11162	respiratory failure		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:1143	exotropia		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exophoria	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:11836	clubfoot		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:28492532
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:12642	hiatus hernia		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hiatus hernia	PMID:25741868|PMID:28135719|PMID:28492532|PMID:32693025
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:1324	lung cancer		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:1826	epilepsy		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:1909	melanoma		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:17576681|PMID:28492532|PMID:9536098
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:219	colon cancer		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:25741868|PMID:28135719|PMID:28492532|PMID:32693025
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:255	hemangioma		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glabellar hemangioma	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:3275	thymoma		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:423	myopathy		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:28492532|PMID:28771897|PMID:32693025|PMID:33619735|PMID:34189813|PMID:34630290
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:17576681|PMID:28492532|PMID:9536098
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321976	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:540	strabismus		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:630	genetic disease		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:25741893|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27329773|PMID:27794525|PMID:28334961|PMID:28402445|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31211173|PMID:32693025|PMID:33619735|PMID:34059105|PMID:34189813|PMID:34630290|PMID:34664855|PMID:37091313|PMID:37337996|PMID:38227798|PMID:39533303|PMID:9536098
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:630	genetic disease		ISO	RGD:1321976	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:25741893|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27329773|PMID:27794525|PMID:28334961|PMID:28402445|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31211173|PMID:32693025|PMID:33619735|PMID:34059105|PMID:34189813|PMID:34630290|PMID:34664855|PMID:37091313|PMID:37337996|PMID:39533303|PMID:9536098
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:630	genetic disease		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:25741893|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27329773|PMID:27794525|PMID:28135719|PMID:28334961|PMID:28402445|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31211173|PMID:32693025|PMID:33619735|PMID:34059105|PMID:34189813|PMID:34630290|PMID:34664855|PMID:37091313|PMID:37337996|PMID:38227798|PMID:39533303|PMID:9536098
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:83	cataract		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868|PMID:28135719|PMID:28492532|PMID:32693025
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:870	neuropathy		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868|PMID:28135719|PMID:28492532|PMID:32693025
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmia	PMID:28492532
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532|PMID:32693025|PMID:34664855
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532|PMID:32693025|PMID:34664855
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9001354	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY		ISO	RGD:1321976	D	RGD:7240710	20210217	OMIM			
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9001354	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY | ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	PMID:25741868|PMID:25741893|PMID:26497905|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31211173|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:34664855|PMID:36791574|PMID:37337996|PMID:38227798|PMID:39433808|PMID:39533303
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9001510	Funnel Chest		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9003137	Photophobia		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Photophobia	PMID:25741868|PMID:28135719|PMID:28492532|PMID:32693025
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9003539	Hyperacusis		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9003703	Coxa Valga		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Coxa valga	PMID:25741868|PMID:28135719|PMID:28492532|PMID:32693025
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868|PMID:28492532
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9004866	Ataxia		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Incoordination	PMID:25741868|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:32693025|PMID:34059105|PMID:37337996|PMID:39533303
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:34664855|PMID:36791574|PMID:39433808
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:25741893|PMID:26497905|PMID:27105897|PMID:28492532|PMID:29440755|PMID:30624633|PMID:31211173|PMID:32693025|PMID:34059105|PMID:38227798
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:28135719|PMID:28492532|PMID:32693025
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532|PMID:32693025|PMID:34664855
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:25741893|PMID:26497905|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31211173|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:34664855|PMID:36791574|PMID:37337996|PMID:38227798|PMID:39433808|PMID:39533303
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27105987|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:34059105|PMID:34189813|PMID:34255403|PMID:35904125|PMID:37091313|PMID:37712079|PMID:38227798|PMID:38375759|PMID:7964809
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8770111	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8770150	Naa16	N-alpha-acetyltransferase 16, NatA auxiliary subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8770150	Naa16	N-alpha-acetyltransferase 16, NatA auxiliary subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8770150	Naa16	N-alpha-acetyltransferase 16, NatA auxiliary subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1606244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8770150	Naa16	N-alpha-acetyltransferase 16, NatA auxiliary subunit	gene	DOID:1324	lung cancer		ISO	RGD:1606244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8770150	Naa16	N-alpha-acetyltransferase 16, NatA auxiliary subunit	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8770150	Naa16	N-alpha-acetyltransferase 16, NatA auxiliary subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1606244	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8770150	Naa16	N-alpha-acetyltransferase 16, NatA auxiliary subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8770150	Naa16	N-alpha-acetyltransferase 16, NatA auxiliary subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770172	Wdr46	WD repeat domain 46	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8770172	Wdr46	WD repeat domain 46	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8770172	Wdr46	WD repeat domain 46	gene	DOID:1115	sarcoma		ISO	RGD:1353590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8770172	Wdr46	WD repeat domain 46	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8770172	Wdr46	WD repeat domain 46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8770172	Wdr46	WD repeat domain 46	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8770172	Wdr46	WD repeat domain 46	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1353590	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8770172	Wdr46	WD repeat domain 46	gene	DOID:9000918	Disease Progression		ISO	RGD:1353590	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8770172	Wdr46	WD repeat domain 46	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770172	Wdr46	WD repeat domain 46	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8770191	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8770191	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:19064721|PMID:24033266|PMID:25741868|PMID:28492532
8770191	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:0110912	leukocyte adhesion deficiency 3		ISO	RGD:1556892	D	RGD:9068941	20250724	MouseDO		OMIM:612840	
8770191	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:0111051	platelet-type bleeding disorder 18		ISO	RGD:1323188	D	RGD:7240710	20180130	OMIM			
8770191	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:0111051	platelet-type bleeding disorder 18		ISO	RGD:1323188	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 18 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 18 | ClinVar Annotator: match by term: RASGRP2-related condition	PMID:25741868|PMID:27235135|PMID:27663674|PMID:28492532|PMID:28637664|PMID:28960434|PMID:28983057|PMID:30046681|PMID:31064749|PMID:32581362|PMID:33711653|PMID:34355501
8770191	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8770191	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:19064721|PMID:24033266|PMID:25741868|PMID:28492532
8770191	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8770191	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:1909	melanoma		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8770191	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1323188	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:25741868|PMID:28983057|PMID:31064749
8770191	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:3070	high grade glioma		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8770191	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:3275	thymoma		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:19064721|PMID:24033266|PMID:25741868|PMID:28492532
8770191	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:19064721|PMID:24033266|PMID:25741868|PMID:28492532
8770191	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8770191	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8770191	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:630	genetic disease		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8770191	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8770191	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:19064721|PMID:24033266|PMID:25741868|PMID:28492532
8770222	Fam186b	family with sequence similarity 186 member B	gene	DOID:12712	nephronophthisis		ISO	RGD:1604773	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:26489029
8770222	Fam186b	family with sequence similarity 186 member B	gene	DOID:3275	thymoma		ISO	RGD:1604773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8770222	Fam186b	family with sequence similarity 186 member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8770222	Fam186b	family with sequence similarity 186 member B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8770240	Mtmr14	myotubularin related protein 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8770240	Mtmr14	myotubularin related protein 14	gene	DOID:0111217	autosomal dominant centronuclear myopathy		ISO	RGD:1605051	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF	PMID:17008356|PMID:19590496|PMID:25741868|PMID:28492532
8770240	Mtmr14	myotubularin related protein 14	gene	DOID:0111223	centronuclear myopathy 1		ISO	RGD:1605051	D	RGD:7240710	20180130	OMIM			
8770240	Mtmr14	myotubularin related protein 14	gene	DOID:0111223	centronuclear myopathy 1		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MTMR14-related condition	PMID:28492532
8770240	Mtmr14	myotubularin related protein 14	gene	DOID:10534	stomach cancer		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8770240	Mtmr14	myotubularin related protein 14	gene	DOID:1115	sarcoma		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8770240	Mtmr14	myotubularin related protein 14	gene	DOID:1324	lung cancer		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8770240	Mtmr14	myotubularin related protein 14	gene	DOID:1909	melanoma		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8770240	Mtmr14	myotubularin related protein 14	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8770240	Mtmr14	myotubularin related protein 14	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1605051	D	RGD:9068941	20221215	CTD		CTD Direct Evidence: marker/mechanism	PMID:30365097
8770240	Mtmr14	myotubularin related protein 14	gene	DOID:422	congenital structural myopathy		ISO	RGD:1605051	D	RGD:9068941	20260312	CTD		CTD Direct Evidence: marker/mechanism	
8770240	Mtmr14	myotubularin related protein 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8770240	Mtmr14	myotubularin related protein 14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8770240	Mtmr14	myotubularin related protein 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
8770240	Mtmr14	myotubularin related protein 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770240	Mtmr14	myotubularin related protein 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8770240	Mtmr14	myotubularin related protein 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8770240	Mtmr14	myotubularin related protein 14	gene	DOID:9256	colorectal cancer		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8770273	Tceal7	transcription elongation factor A like 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8770273	Tceal7	transcription elongation factor A like 7	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1347340	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208208
8770277	Eif5	eukaryotic translation initiation factor 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8770277	Eif5	eukaryotic translation initiation factor 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8770277	Eif5	eukaryotic translation initiation factor 5	gene	DOID:1115	sarcoma		ISO	RGD:736122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8770277	Eif5	eukaryotic translation initiation factor 5	gene	DOID:5419	schizophrenia		ISO	RGD:736122	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743468
8770277	Eif5	eukaryotic translation initiation factor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8770277	Eif5	eukaryotic translation initiation factor 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8770277	Eif5	eukaryotic translation initiation factor 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770277	Eif5	eukaryotic translation initiation factor 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8770290	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8770290	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:0050591	tooth agenesis		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypodontia	PMID:21455487|PMID:21534943|PMID:25741868|PMID:28067412|PMID:28492532
8770290	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:0050640	anauxetic dysplasia 1		ISO	RGD:1318482	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8770290	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8770290	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:0080962	anauxetic dysplasia 2		ISO	RGD:1318482	D	RGD:7240710	20190315	OMIM			
8770290	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:0080962	anauxetic dysplasia 2		ISO	RGD:1318482	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANAUXETIC DYSPLASIA 2 | ClinVar Annotator: match by term: Anauxetic dysplasia 2 | ClinVar Annotator: match by term: POP1-related condition	PMID:21455487|PMID:21534943|PMID:25741868|PMID:28067412|PMID:28492532|PMID:30408610
8770290	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:1115	sarcoma		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8770290	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:13714	anodontia		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypodontia	PMID:21455487|PMID:21534943|PMID:25741868|PMID:28067412|PMID:28492532
8770290	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1318482	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8770290	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8770290	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:630	genetic disease		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21455487|PMID:21534943|PMID:25741868|PMID:28067412|PMID:28492532
8770290	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8770290	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770290	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8770310	Cd99	CD99 molecule (Xg blood group)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8770310	Cd99	CD99 molecule (Xg blood group)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8770310	Cd99	CD99 molecule (Xg blood group)	gene	DOID:1115	sarcoma		ISO	RGD:1344139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8770310	Cd99	CD99 molecule (Xg blood group)	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8770310	Cd99	CD99 molecule (Xg blood group)	gene	DOID:3369	Ewing sarcoma		ISO	RGD:1344139	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: CD99 Positive Neoplastic Cells Present	PMID:25741868
8770310	Cd99	CD99 molecule (Xg blood group)	gene	DOID:4362	cervical cancer		ISO	RGD:1344139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8770310	Cd99	CD99 molecule (Xg blood group)	gene	DOID:4545	mesenchymal chondrosarcoma		ISO	RGD:1344139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12817616
8770310	Cd99	CD99 molecule (Xg blood group)	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8770310	Cd99	CD99 molecule (Xg blood group)	gene	DOID:5041	esophageal cancer		ISO	RGD:1344139	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8770310	Cd99	CD99 molecule (Xg blood group)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8770310	Cd99	CD99 molecule (Xg blood group)	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8770310	Cd99	CD99 molecule (Xg blood group)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770310	Cd99	CD99 molecule (Xg blood group)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8770310	Cd99	CD99 molecule (Xg blood group)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8770324	Plekha5	pleckstrin homology domain containing A5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8770324	Plekha5	pleckstrin homology domain containing A5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8770324	Plekha5	pleckstrin homology domain containing A5	gene	DOID:10534	stomach cancer		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8770324	Plekha5	pleckstrin homology domain containing A5	gene	DOID:1115	sarcoma		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8770324	Plekha5	pleckstrin homology domain containing A5	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
8770324	Plekha5	pleckstrin homology domain containing A5	gene	DOID:1909	melanoma		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8770324	Plekha5	pleckstrin homology domain containing A5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8770324	Plekha5	pleckstrin homology domain containing A5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8770324	Plekha5	pleckstrin homology domain containing A5	gene	DOID:4362	cervical cancer		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8770324	Plekha5	pleckstrin homology domain containing A5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8770324	Plekha5	pleckstrin homology domain containing A5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8770324	Plekha5	pleckstrin homology domain containing A5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8770324	Plekha5	pleckstrin homology domain containing A5	gene	DOID:9004934	BILATERAL CLEFT LIP		ISO	RGD:1344659	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Bilateral cleft lip	PMID:25741868
8770324	Plekha5	pleckstrin homology domain containing A5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770324	Plekha5	pleckstrin homology domain containing A5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8770324	Plekha5	pleckstrin homology domain containing A5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8770324	Plekha5	pleckstrin homology domain containing A5	gene	DOID:9296	cleft lip		ISO	RGD:1344659	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate	
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:0050851	glomerulosclerosis		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:12675855|REF_RGD_ID:6903837
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:0060058	lymphoma		ISO	RGD:736066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18703563
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:0080685	aortic dissection		ISO	RGD:736066	D	RGD:9068941	20220929	RGD		protein:increased expression:aorta (human)	PMID:28167124|PMID:30787994|REF_RGD_ID:155260287|REF_RGD_ID:155260309
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:0111535	progressive osseous heteroplasia		ISO	RGD:736066	D	RGD:9068941	20200609	RGD		protein:increased expression:dermis:	PMID:18422975|REF_RGD_ID:9068449
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:10286	prostate carcinoma		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:16331611|REF_RGD_ID:1581362
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:10320	asbestosis		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16221779|PMID:21514415
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:1074	kidney failure		ISO	RGD:736066	D	RGD:9068941	20200609	RGD		In type 2 diabetic patients	PMID:21034455|REF_RGD_ID:6903271
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:21483670|REF_RGD_ID:6903265
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:114	heart disease		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23558518
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:1205	allergic disease		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:12365	malaria		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:16552072|REF_RGD_ID:1581333
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:13001	carotid stenosis		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26564003
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9294829
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:13608	biliary atresia		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:15845635|REF_RGD_ID:1581370
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:15776015|REF_RGD_ID:1581381
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:1591	renovascular hypertension		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:12620700|REF_RGD_ID:1581326
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:15970685|REF_RGD_ID:1581363
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:182	calcinosis		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:18390899|REF_RGD_ID:6903869
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:182	calcinosis		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21193197|PMID:21335463
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:182	calcinosis		ISO	RGD:736066	D	RGD:9068941	20200609	RGD		protein:increased expression:dermis:	PMID:18422975|REF_RGD_ID:9068449
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:2237	hepatitis		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:15712659|REF_RGD_ID:1581383
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:11721059|REF_RGD_ID:1581329
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:736066	D	RGD:9068941	20200609	RGD		DNA, protein:SNPs, haplotypes, increased expression:multiple, serum	PMID:15885319|REF_RGD_ID:1581472
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:26	pancreas disease		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20495387
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:2921	glomerulonephritis	disease_progression	ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:20720406|REF_RGD_ID:6903272
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:299	adenocarcinoma		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20495387|PMID:21552421
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:3021	acute kidney failure		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:22863853|REF_RGD_ID:6903264
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:3021	acute kidney failure		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11274264|PMID:20623750
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14555839
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:3070	high grade glioma		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:16651633|REF_RGD_ID:1581321
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:3070	high grade glioma		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16651633
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:3393	coronary artery disease		ISO	RGD:736066	D	RGD:9068941	20200609	RGD		In type 2 diabetic patients	PMID:21034455|REF_RGD_ID:6903271
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:3627	aortic aneurysm		ISO	RGD:736066	D	RGD:9068941	20220929	RGD		protein:increased expression:aorta (human)	PMID:25465469|REF_RGD_ID:155260284
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:11340	D	RGD:9068941	20200619	RGD		associated with  Middle East respiratory syndrome;mRNA:increased expression:lung:	PMID:31838832|REF_RGD_ID:30309204
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25216247
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:16533775|REF_RGD_ID:1581361
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:399	tuberculosis		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:15863395|REF_RGD_ID:1581371
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:4079	heart valve disease		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:4247	coronary restenosis		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:12114325|REF_RGD_ID:1581358
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:4247	coronary restenosis		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:16373617|REF_RGD_ID:1581366
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:4306	radiculopathy		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:14513263|REF_RGD_ID:1581324
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:4676	uremia		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19092814
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:20504883|REF_RGD_ID:6903276
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16221502
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:5434	scrapie		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:16412998|REF_RGD_ID:1581331
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:552	pneumonia		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:557	kidney disease		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27026710
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:576	proteinuria		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11972865
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:5844	myocardial infarction		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:14500723|REF_RGD_ID:1581325
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:5844	myocardial infarction		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:12939547|REF_RGD_ID:1581386
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:640	encephalomyelitis		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:11721059|REF_RGD_ID:1581329
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:640	encephalomyelitis		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:11721059|REF_RGD_ID:1581329
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:16047475|REF_RGD_ID:1581375
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:736066	D	RGD:9068941	20220901	RGD		mRNA:increased expression:liver (human)	PMID:35693827|REF_RGD_ID:153344586
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:15761492|REF_RGD_ID:1581382
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:820	myocarditis		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:16679731|REF_RGD_ID:1581118
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:3752	D	RGD:9068941	20250724	RGD			PMID:20926632|REF_RGD_ID:5131995
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:15592854|REF_RGD_ID:6483848
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:15735673|REF_RGD_ID:1581341
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9000315	Pleural Neoplasms		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16221779
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9000352	Vascular System Injuries		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11868353
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9000483	Angina Pectoris		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:16421174|REF_RGD_ID:1581390
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9000784	Fibrosis		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:15123578|REF_RGD_ID:1581343
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:16474180|REF_RGD_ID:1581330
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22407340
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9001542	Albuminuria		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:18443355|REF_RGD_ID:6903862
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:16221502|REF_RGD_ID:1581332
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:16221502|REF_RGD_ID:1581332
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11420682
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9525990
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9001665	Aneurysm		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:11567232|REF_RGD_ID:1581391
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:12032186|REF_RGD_ID:1581328
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21852811
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:15867270|REF_RGD_ID:1581338
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9002315	Kidney Calculi		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:16105024|REF_RGD_ID:1581334
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9002315	Kidney Calculi		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:21378157|REF_RGD_ID:6903839
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9002315	Kidney Calculi		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10890885|PMID:8325891
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9002315	Kidney Calculi		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:15954903|REF_RGD_ID:1581372
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9002438	Foreign-Body Reaction		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:15949549|REF_RGD_ID:1581336
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20440599
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11868353
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:16428483|REF_RGD_ID:1581364
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9003204	Neovascularization, Pathologic		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:11920639|REF_RGD_ID:1581359
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9003311	Urinary Calculi		ISO	RGD:736066	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.R9402H (human)	PMID:16145474|REF_RGD_ID:1581368
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9003311	Urinary Calculi	no_association	ISO	RGD:736066	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.N9171S (human)	PMID:16145474|REF_RGD_ID:1581368
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16221779|PMID:18550471
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9003613	Laryngeal Neoplasms		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:16299231|REF_RGD_ID:1581365
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:15534078|REF_RGD_ID:1581339
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:20548025|REF_RGD_ID:6903275
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:736066	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-443C>T, -1748G>A (human)	PMID:15868370|REF_RGD_ID:1581374
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9004265	Endometrioid Carcinomas		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:16633066|REF_RGD_ID:1581360
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:15998773|REF_RGD_ID:1581369
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552421|PMID:22481206
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15318939
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9005372	Inflammation		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:16105024|REF_RGD_ID:1581334
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:16528250|REF_RGD_ID:1581322
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9006062	Nervous System Trauma		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:15625076|REF_RGD_ID:1581125
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9006081	Osteolysis		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22407340
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9006332	Vascular Calcification		ISO	RGD:3752	D	RGD:9068941	20250814	RGD		associated with end stage renal disease;mRNA,protein:increased expression:artery	PMID:30973285|REF_RGD_ID:625787427
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:15531104|REF_RGD_ID:1581323
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15805072
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16980342
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9007090	Experimental Seizures		ISO	RGD:3752	D	RGD:9068941	20241214	RGD			PMID:12132583|REF_RGD_ID:1581327
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20623750
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16651633
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:15165989|REF_RGD_ID:1581342
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9008105	Cystic, Mucinous, and Serous Neoplasms		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:16633066|REF_RGD_ID:1581360
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18949741|PMID:22531848
8770359	Spp1	secreted phosphoprotein 1	gene	DOID:9538	multiple myeloma		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:16208410|REF_RGD_ID:1581367
8770379	Sgk3	serum/glucocorticoid regulated kinase family member 3	gene	DOID:10283	prostate cancer		ISO	RGD:1354188	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8770379	Sgk3	serum/glucocorticoid regulated kinase family member 3	gene	DOID:4535	hypotrichosis		ISO	RGD:12199930	D	RGD:9068941	20250724	OMIA		Hypotrichosis, recessive	PMID:17083571|PMID:27994129|PMID:30927068|PMID:31727632|PMID:3367039|PMID:34861369|PMID:37191329|PMID:37582787|PMID:40127928
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:0050860	colorectal adenoma	severity	ISO	RGD:1606586	D	RGD:9068941	20220303	RGD		DNA:SNPs:intron, CDS: (rs927650), (rs35051736) (human)	PMID:26241700|REF_RGD_ID:11521055
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:0050860	colorectal adenoma	treatment	ISO	RGD:1606586	D	RGD:9068941	20220505	RGD		DNA:SNP:CDS: (rs2296241) (human)	PMID:27978548|REF_RGD_ID:152025254
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1606586	D	RGD:9068941	20220317	RGD		DNA:SNPs:enhancers: (rs6013897, rs158552, rs17217119) (human)	PMID:28009432|REF_RGD_ID:151665179
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:0050866	oral squamous cell carcinoma	susceptibility	ISO	RGD:1606586	D	RGD:9068941	20220324	RGD		DNA:SNP:exon: (rs2296241) (human)	PMID:22612324|REF_RGD_ID:151665337
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606586	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:0060071	pre-malignant neoplasm	treatment	ISO	RGD:737342	D	RGD:9068941	20220421	RGD			PMID:22982628|REF_RGD_ID:151708740
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:0061136	infantile hypercalcemia 1		ISO	RGD:1606586	D	RGD:7240710	20180704	OMIM			
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:0061136	infantile hypercalcemia 1		ISO	RGD:1606586	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CYP24A1-related condition | ClinVar Annotator: match by term: HYPERCALCEMIA, INFANTILE, 1 | ClinVar Annotator: match by term: Hypercalcemia, infantile, 1 | ClinVar Annotator: match by term: Idiopathic hypercalcemia of infancy | ClinVar Annotator: match by term: hypercalcemia, infantile, 1	PMID:19961857|PMID:21675912|PMID:22047571|PMID:22100522|PMID:22112808|PMID:23001465|PMID:23293122|PMID:23423976|PMID:23485543|PMID:24033266|PMID:24518185|PMID:25194629|PMID:25446019|PMID:25741868|PMID:26097993|PMID:26117226|PMID:26214117|PMID:26585929|PMID:26787776|PMID:27394135|PMID:27639704|PMID:27798933|PMID:28109821|PMID:28324001|PMID:28470390|PMID:28492532|PMID:29431110|PMID:29786188|PMID:30729229|PMID:31288237|PMID:31589614|PMID:31672324|PMID:31751313|PMID:31980526|PMID:32375123|PMID:32743688|PMID:33099630|PMID:33186763|PMID:33226606|PMID:33502802|PMID:33726816|PMID:33864587|PMID:34307984|PMID:34320495|PMID:34337279|PMID:34426522|PMID:34515170|PMID:34662328|PMID:34721296|PMID:34805638|PMID:34858904|PMID:35282483|PMID:35325889|PMID:35569070|PMID:35956396|PMID:36703897|PMID:37701149|PMID:37853563|PMID:38504242|PMID:38586466|PMID:38665259|PMID:39777136|PMID:40794449
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:10591	pre-eclampsia		ISO	RGD:1606586	D	RGD:9068941	20231130	RGD		associated with hypoxia; protein:increased expression:placenta (human)	PMID:22871339|REF_RGD_ID:401901075
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:10591	pre-eclampsia		ISO	RGD:1606586	D	RGD:9068941	20231130	RGD		mRNA:increased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:1074	kidney failure		ISO	RGD:1606586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8164439
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:11476	osteoporosis		ISO	RGD:1606586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22337913
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:11714	gestational diabetes		ISO	RGD:1606586	D	RGD:9068941	20231130	RGD		mRNA:increased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:12678	hypercalcemia		ISO	RGD:1606586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercalcemia	PMID:25741868
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1606586	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:21675912|PMID:22047571|PMID:23001465|PMID:23485543|PMID:24518185|PMID:25194629|PMID:25446019|PMID:25741868|PMID:26097993|PMID:26117226|PMID:26585929|PMID:27394135|PMID:27798933|PMID:28324001|PMID:28470390|PMID:28492532|PMID:29786188|PMID:30729229|PMID:31589614|PMID:31672324|PMID:31751313|PMID:31980526|PMID:32743688|PMID:33099630|PMID:33186763|PMID:33226606|PMID:33502802|PMID:33726816|PMID:33864587|PMID:34307984|PMID:34320495|PMID:34337279|PMID:34426522|PMID:34515170|PMID:34805638|PMID:34858904|PMID:35325889|PMID:35569070|PMID:35956396|PMID:36703897|PMID:37701149|PMID:38586466|PMID:38665259|PMID:40794449
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:1324	lung cancer		ISO	RGD:1606586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:1324	lung cancer		ISO	RGD:1606586	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:1324	lung cancer	sexual_dimorphism	ISO	RGD:1606586	D	RGD:9068941	20220324	RGD		DNA:SNP:intron: (rs2765934) (human)	PMID:31264381|REF_RGD_ID:151665340
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:1993	rectum cancer	susceptibility	ISO	RGD:1606586	D	RGD:9068941	20220324	RGD		DNA:SNP:intron: (rs6022999) (human)	PMID:31740231|REF_RGD_ID:151665338
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:219	colon cancer		ISO	RGD:1606586	D	RGD:9068941	20220303	RGD		mRNA:increased expression:colon (human)	PMID:16180015|REF_RGD_ID:151361183
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:219	colon cancer	susceptibility	ISO	RGD:1606586	D	RGD:9068941	20220317	RGD		DNA:SNP:intron: IVS4-66T>G, (rs4809958) (human)	PMID:19706847|REF_RGD_ID:151665174
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:219	colon cancer	susceptibility	ISO	RGD:1606586	D	RGD:9068941	20220317	RGD		DNA:SNPs:multiple (human)	PMID:28811712|REF_RGD_ID:151665177
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:219	colon cancer	susceptibility	ISO	RGD:1606586	D	RGD:9068941	20220324	RGD		DNA:SNPs:introns: (rs4809960, rs6022999) (human)	PMID:31740231|REF_RGD_ID:151665338
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606586	D	RGD:9068941	20220317	RGD		mRNA:increased expression:colonic mucosa (human)	PMID:27793774|REF_RGD_ID:151665173
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606586	D	RGD:9068941	20220407	RGD		mRNA:increased expression:colon (human)	PMID:33791222|REF_RGD_ID:151665790
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:2841	asthma		ISO	RGD:1606586	D	RGD:9068941	20260205	RGD		mRNA:decreased expression:peripheral blood mononuclear cell	PMID:27026514|REF_RGD_ID:632518024
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:3459	breast carcinoma		ISO	RGD:1606586	D	RGD:9068941	20220303	RGD		mRNA:decreased expression:breast (human)	PMID:16180015|REF_RGD_ID:151361183
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:3713	ovary adenocarcinoma		ISO	RGD:1606586	D	RGD:9068941	20220303	RGD		mRNA:increased expression:ovary (human)	PMID:16180015|REF_RGD_ID:151361183
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:3748	esophagus squamous cell carcinoma	susceptibility	ISO	RGD:1606586	D	RGD:9068941	20220331	RGD		DNA:SNP:CDS: (rs2296241) (human)	PMID:28362172|REF_RGD_ID:151665500
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:3905	lung carcinoma	susceptibility	ISO	RGD:1606586	D	RGD:9068941	20220407	RGD		DNA:SNP:3' utr: (rs4809957) (human)	PMID:22797725|REF_RGD_ID:151665791
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1606586	D	RGD:9068941	20220421	RGD		RNA:increased expression:lung (human)	PMID:17671213|REF_RGD_ID:151708738
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1606586	D	RGD:9068941	20220303	RGD		DNA:SNP:intron 4: (rs3787554) (human)	PMID:23435876|REF_RGD_ID:151361182
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:3908	lung non-small cell carcinoma	exacerbates	ISO	RGD:1606586	D	RGD:9068941	20220303	RGD		mRNA:increased expression:lung (human)	PMID:21169243|PMID:29250167|REF_RGD_ID:151361179|REF_RGD_ID:151361185
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:1606586	D	RGD:9068941	20220317	RGD		DNA:SNP:exon, intron: (rs6068816, rs2181874) (human)	PMID:27669215|REF_RGD_ID:151665175
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:1606586	D	RGD:9068941	20220407	RGD		DNA:SNPs:CDS, 3' utr: (rs6068816, rs4809957) (human)	PMID:25544771|REF_RGD_ID:151665789
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:1606586	D	RGD:9068941	20220421	RGD		DNA:SNPs:multiple (human)	PMID:29726119|REF_RGD_ID:151708739
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1606586	D	RGD:9068941	20220303	RGD		DNA:hypomethylation:promoter (human)	PMID:24736069|REF_RGD_ID:151361181
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1606586	D	RGD:9068941	20220317	RGD		human cell line in a mouse model	PMID:27793774|REF_RGD_ID:151665173
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1606586	D	RGD:9068941	20220331	RGD		mRNA:decreased expression:lung (human)	PMID:25519225|REF_RGD_ID:151665499
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:4914	esophagus adenocarcinoma	treatment	ISO	RGD:1606586	D	RGD:9068941	20220317	RGD		mRNA:increased expression:esophagus (human)	PMID:30187205|REF_RGD_ID:151665176
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606586	D	RGD:9068941	20220303	RGD		protein:increased expression:intrahepatic bile, extrahepatic bile duct (human)	PMID:23375797|REF_RGD_ID:151361187
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:5041	esophageal cancer		ISO	RGD:1606586	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:5041	esophageal cancer	ameliorates	ISO	RGD:1606586	D	RGD:9068941	20220505	RGD		RNA:decreased expression:esophagus (human)	PMID:14760115|REF_RGD_ID:152025255
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:5409	lung small cell carcinoma	susceptibility	ISO	RGD:1606586	D	RGD:9068941	20220324	RGD		DNA:SNP:CDS: (rs6068816) (human)	PMID:31264381|REF_RGD_ID:151665340
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:585	nephrolithiasis		ISO	RGD:1606586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22337913
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1606586	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21675912|PMID:22047571|PMID:23001465|PMID:23485543|PMID:24518185|PMID:25194629|PMID:25446019|PMID:25741868|PMID:26097993|PMID:26117226|PMID:26214117|PMID:26585929|PMID:27394135|PMID:27798933|PMID:28109821|PMID:28324001|PMID:28470390|PMID:28492532|PMID:29786188|PMID:30729229|PMID:31589614|PMID:31672324|PMID:31751313|PMID:31980526|PMID:32743688|PMID:33099630|PMID:33186763|PMID:33226606|PMID:33502802|PMID:33726816|PMID:33864587|PMID:34307984|PMID:34320495|PMID:34337279|PMID:34426522|PMID:34515170|PMID:34721296|PMID:34805638|PMID:34858904|PMID:35325889|PMID:35569070|PMID:35956396|PMID:36703897|PMID:37701149|PMID:37853563|PMID:38586466|PMID:38665259|PMID:40794449
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:8577	ulcerative colitis	susceptibility	ISO	RGD:1606586	D	RGD:9068941	20220317	RGD		DNA:SNPs:multiple (human)	PMID:28811712|REF_RGD_ID:151665177
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:9000373	Muscle Cramp		ISO	RGD:1606586	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle cramps	PMID:21675912|PMID:22047571|PMID:23001465|PMID:23485543|PMID:24518185|PMID:25194629|PMID:25446019|PMID:25741868|PMID:26097993|PMID:26117226|PMID:26585929|PMID:27394135|PMID:27798933|PMID:28324001|PMID:28470390|PMID:28492532|PMID:29786188|PMID:30729229|PMID:31589614|PMID:31672324|PMID:31751313|PMID:31980526|PMID:32743688|PMID:33099630|PMID:33186763|PMID:33226606|PMID:33502802|PMID:33726816|PMID:33864587|PMID:34307984|PMID:34320495|PMID:34337279|PMID:34426522|PMID:34515170|PMID:34805638|PMID:34858904|PMID:35325889|PMID:35569070|PMID:35956396|PMID:36703897|PMID:37701149|PMID:38586466|PMID:38665259|PMID:40794449
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:9001738	Hypercalciuria		ISO	RGD:1606586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22337913
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1606586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:9004271	Colonic Polyps	susceptibility	ISO	RGD:1606586	D	RGD:9068941	20220317	RGD		DNA:SNPs:multiple (human)	PMID:28811712|REF_RGD_ID:151665177
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:9004831	Colitis-Associated Neoplasms	treatment	ISO	RGD:737342	D	RGD:9068941	20220324	RGD			PMID:31877961|REF_RGD_ID:151665341
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1606586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22797725
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:9005216	Infantile Hypercalcemia		ISO	RGD:1606586	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:9006359	Vitamin D Deficiency		ISO	RGD:1606586	D	RGD:9068941	20260205	RGD		mRNA:increased expression:placenta	PMID:25448751|REF_RGD_ID:632518022
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:9006743	Spasm		ISO	RGD:1606586	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:21675912|PMID:22047571|PMID:23001465|PMID:23485543|PMID:24518185|PMID:25194629|PMID:25446019|PMID:25741868|PMID:26097993|PMID:26117226|PMID:26585929|PMID:27394135|PMID:27798933|PMID:28324001|PMID:28470390|PMID:28492532|PMID:29786188|PMID:30729229|PMID:31589614|PMID:31672324|PMID:31751313|PMID:31980526|PMID:32743688|PMID:33099630|PMID:33186763|PMID:33226606|PMID:33502802|PMID:33726816|PMID:33864587|PMID:34307984|PMID:34320495|PMID:34337279|PMID:34426522|PMID:34515170|PMID:34805638|PMID:34858904|PMID:35325889|PMID:35569070|PMID:35956396|PMID:36703897|PMID:37701149|PMID:38586466|PMID:38665259|PMID:40794449
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:9006956	nephrotoxicity	treatment	ISO	RGD:2462	D	RGD:9068941	20230622	RGD			PMID:37244046|REF_RGD_ID:329853759
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606586	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps		ISO	RGD:1606586	D	RGD:9068941	20260205	RGD		mRNA:increased expression:nasal cavity mucosa	PMID:27618536|REF_RGD_ID:632517896
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1606586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16280049
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:9256	colorectal cancer		ISO	RGD:1606586	D	RGD:9068941	20220317	RGD		mRNA:increased expression:colorectal mucosa (human)	PMID:23463632|PMID:24213465|REF_RGD_ID:151361180|REF_RGD_ID:151665178
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:9256	colorectal cancer		ISO	RGD:1606586	D	RGD:9068941	20220324	RGD		mRNA:increased expression:colorectum (human)	PMID:26997443|REF_RGD_ID:11526316
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:9256	colorectal cancer		ISO	RGD:1606586	D	RGD:9068941	20220331	RGD		circRNA:increased expression:colorectum (human)	PMID:32803502|REF_RGD_ID:151665496
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1606586	D	RGD:9068941	20220407	RGD		mRNA:increased expression:colon (human)	PMID:26260259|REF_RGD_ID:151665788
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:1606586	D	RGD:9068941	20220324	RGD		DNA:SNP:intron: (rs2765934) (human)	PMID:28821819|REF_RGD_ID:151665339
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:9256	colorectal cancer	sexual_dimorphism	ISO	RGD:1606586	D	RGD:9068941	20220303	RGD		mRNA:splice variants:colorectal mucosa (human)	PMID:20398751|REF_RGD_ID:151361186
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1606586	D	RGD:9068941	20220317	RGD		DNA:SNP:intron: (rs4809960) (human)	PMID:31802707|REF_RGD_ID:151665172
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1606586	D	RGD:9068941	20220331	RGD		DNA:missense mutation:CDS: (rs6022990) (human)	PMID:24562971|REF_RGD_ID:151665501
8770414	LOC102013768	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1606586	D	RGD:9068941	20220421	RGD		DNA:SNP:enhancer: (rs6013897) (human)	PMID:33504116|REF_RGD_ID:151708714
8770430	Cep57l1	centrosomal protein 57 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1347020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8770430	Cep57l1	centrosomal protein 57 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1347020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8770430	Cep57l1	centrosomal protein 57 like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8770430	Cep57l1	centrosomal protein 57 like 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1347020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8770430	Cep57l1	centrosomal protein 57 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8770430	Cep57l1	centrosomal protein 57 like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347020	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8770430	Cep57l1	centrosomal protein 57 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8770430	Cep57l1	centrosomal protein 57 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8770468	Dlg1	discs large MAGUK scaffold protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8770468	Dlg1	discs large MAGUK scaffold protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:731903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8770468	Dlg1	discs large MAGUK scaffold protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8770468	Dlg1	discs large MAGUK scaffold protein 1	gene	DOID:1324	lung cancer		ISO	RGD:731903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8770468	Dlg1	discs large MAGUK scaffold protein 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:2505	D	RGD:9068941	20200609	RGD		protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles	PMID:15703272|REF_RGD_ID:2306834
8770468	Dlg1	discs large MAGUK scaffold protein 1	gene	DOID:1909	melanoma		ISO	RGD:731903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8770468	Dlg1	discs large MAGUK scaffold protein 1	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:731903	D	RGD:9068941	20200609	RGD		DNA:mutation:CDS:multiple nonsynonymous mutations	PMID:14871824|REF_RGD_ID:2306813
8770468	Dlg1	discs large MAGUK scaffold protein 1	gene	DOID:3275	thymoma		ISO	RGD:731903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8770468	Dlg1	discs large MAGUK scaffold protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8770468	Dlg1	discs large MAGUK scaffold protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:731903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8770468	Dlg1	discs large MAGUK scaffold protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:731903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8770468	Dlg1	discs large MAGUK scaffold protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:731903	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8770468	Dlg1	discs large MAGUK scaffold protein 1	gene	DOID:5419	schizophrenia		ISO	RGD:731903	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:12421351|PMID:18665322|PMID:20691406
8770468	Dlg1	discs large MAGUK scaffold protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8770468	Dlg1	discs large MAGUK scaffold protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8770468	Dlg1	discs large MAGUK scaffold protein 1	gene	DOID:674	cleft palate		ISO	RGD:731903	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: cleft palate	
8770468	Dlg1	discs large MAGUK scaffold protein 1	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:731903	D	RGD:9068941	20200609	RGD		protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis	PMID:15221964|REF_RGD_ID:2306812
8770468	Dlg1	discs large MAGUK scaffold protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770468	Dlg1	discs large MAGUK scaffold protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8770468	Dlg1	discs large MAGUK scaffold protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:731903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8770540	Prok1	prokineticin 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736057	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8770540	Prok1	prokineticin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8770540	Prok1	prokineticin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770545	Tlcd4	TLC domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050562	West syndrome		ISO	RGD:1346332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111474	combined oxidative phosphorylation deficiency 1		ISO	RGD:1346332	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111478	combined oxidative phosphorylation deficiency 20		ISO	RGD:1346332	D	RGD:7240710	20180130	OMIM			
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111478	combined oxidative phosphorylation deficiency 20		ISO	RGD:1346332	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20 | ClinVar Annotator: match by term: VARS2-related condition | ClinVar Annotator: match by term: VARS2-related disorders	PMID:25741868|PMID:27502409|PMID:28492532|PMID:29313548|PMID:29314548|PMID:31623496|PMID:33937156|PMID:34216551|PMID:34484863|PMID:38465286|PMID:38703036|PMID:38752301
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:1059	intellectual disability		ISO	RGD:1346332	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:29313548|PMID:29314548|PMID:30458719
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:10892	hypospadias		ISO	RGD:1346332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:10907	microcephaly		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:11111	hydronephrosis		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:1115	sarcoma		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:11162	respiratory failure		ISO	RGD:1346332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:11383	cryptorchidism		ISO	RGD:1346332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Unilateral cryptorchidism	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:11714	gestational diabetes		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:34362006
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:1324	lung cancer		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:1596	depressive disorder		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depressivity	PMID:28492532|PMID:31529142|PMID:32342562|PMID:36157797
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:1826	epilepsy		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29313548|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:34362006
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:2340	craniosynostosis		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:3650	lactic acidosis		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:4702	mongolian spot		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1346332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29313548|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:34362006
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1346332	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:850	lung disease		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1346332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:34362006
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type I malformation	
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9003132	Sialorrhea		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9003133	Hypertelorism		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:34362006
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9003507	Premature Birth		ISO	RGD:1346332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1346332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:16199547|PMID:25741868|PMID:28492532|PMID:29313548|PMID:29314548
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:34362006
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:34362006
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9007661	Dwarfism		ISO	RGD:1346332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:34362006
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9007722	Myoclonus		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:34362006
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:34362006
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
8770583	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:936	brain disease		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:34362006
8770617	Xrcc6	X-ray repair cross complementing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8770617	Xrcc6	X-ray repair cross complementing 6	gene	DOID:10534	stomach cancer		ISO	RGD:732846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8770617	Xrcc6	X-ray repair cross complementing 6	gene	DOID:1115	sarcoma		ISO	RGD:732846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8770617	Xrcc6	X-ray repair cross complementing 6	gene	DOID:1324	lung cancer		ISO	RGD:732846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8770617	Xrcc6	X-ray repair cross complementing 6	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:732846	D	RGD:9068941	20200609	RGD		protein:increased expression:epidermal cell, squamous cell of epidermis (human)	PMID:16497868|REF_RGD_ID:8698657
8770617	Xrcc6	X-ray repair cross complementing 6	gene	DOID:1909	melanoma		ISO	RGD:732846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8770617	Xrcc6	X-ray repair cross complementing 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8770617	Xrcc6	X-ray repair cross complementing 6	gene	DOID:2513	basal cell carcinoma		ISO	RGD:732846	D	RGD:9068941	20200609	RGD		protein:increased expression:epidermal cell, basal cell of epidermis (human)	PMID:16497868|REF_RGD_ID:8698657
8770617	Xrcc6	X-ray repair cross complementing 6	gene	DOID:3070	high grade glioma		ISO	RGD:732846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8770617	Xrcc6	X-ray repair cross complementing 6	gene	DOID:3275	thymoma		ISO	RGD:732846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8770617	Xrcc6	X-ray repair cross complementing 6	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:732846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8770617	Xrcc6	X-ray repair cross complementing 6	gene	DOID:4362	cervical cancer		ISO	RGD:732846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8770617	Xrcc6	X-ray repair cross complementing 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8770617	Xrcc6	X-ray repair cross complementing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8770617	Xrcc6	X-ray repair cross complementing 6	gene	DOID:9006205	Animal Disease Models		ISO	RGD:732846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8770617	Xrcc6	X-ray repair cross complementing 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8770617	Xrcc6	X-ray repair cross complementing 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8770648	Ccnl1	cyclin L1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8770648	Ccnl1	cyclin L1	gene	DOID:10534	stomach cancer		ISO	RGD:733406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8770648	Ccnl1	cyclin L1	gene	DOID:1909	melanoma		ISO	RGD:733406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8770648	Ccnl1	cyclin L1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8770648	Ccnl1	cyclin L1	gene	DOID:3070	high grade glioma		ISO	RGD:733406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8770648	Ccnl1	cyclin L1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8770648	Ccnl1	cyclin L1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8770648	Ccnl1	cyclin L1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8770648	Ccnl1	cyclin L1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8770695	Cwc15	CWC15 spliceosome associated protein homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8770695	Cwc15	CWC15 spliceosome associated protein homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1604821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8770695	Cwc15	CWC15 spliceosome associated protein homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8770695	Cwc15	CWC15 spliceosome associated protein homolog	gene	DOID:1115	sarcoma		ISO	RGD:1604821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8770695	Cwc15	CWC15 spliceosome associated protein homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1604821	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8770695	Cwc15	CWC15 spliceosome associated protein homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1604821	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8770695	Cwc15	CWC15 spliceosome associated protein homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8770695	Cwc15	CWC15 spliceosome associated protein homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8770706	Tmem35a	transmembrane protein 35A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8770706	Tmem35a	transmembrane protein 35A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770729	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8770729	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8770729	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:1115	sarcoma		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8770729	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:1324	lung cancer		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8770729	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:1909	melanoma		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8770729	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8770729	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:2907	Goldenhar syndrome		ISO	RGD:1606215	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Craniofacial microsomia 1	PMID:25741868
8770729	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8770729	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1606215	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8770729	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8770729	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8770729	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8770729	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770729	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8770746	Olfm2	olfactomedin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8770746	Olfm2	olfactomedin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8770746	Olfm2	olfactomedin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770763	Tbx3	T-box transcription factor 3	gene	DOID:0051061	stroke		ISO	RGD:1345948	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29531354
8770763	Tbx3	T-box transcription factor 3	gene	DOID:0060614	ulnar-mammary syndrome		ISO	RGD:1345948	D	RGD:7240710	20180130	OMIM			
8770763	Tbx3	T-box transcription factor 3	gene	DOID:0060614	ulnar-mammary syndrome		ISO	RGD:1345948	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: TBX3-related condition | ClinVar Annotator: match by term: ULNAR-MAMMARY SYNDROME | ClinVar Annotator: match by term: Ulnar-mammary syndrome	PMID:11689487|PMID:12668170|PMID:16892408|PMID:16896345|PMID:17576681|PMID:25741868|PMID:28145909|PMID:28492532|PMID:31669645|PMID:9536098
8770763	Tbx3	T-box transcription factor 3	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1345948	D	RGD:9068941	20220224	RGD		protein:increased expression:stomach (human)	PMID:27553355|REF_RGD_ID:151361120
8770763	Tbx3	T-box transcription factor 3	gene	DOID:1324	lung cancer		ISO	RGD:1345948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8770763	Tbx3	T-box transcription factor 3	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1345948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8770763	Tbx3	T-box transcription factor 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8770763	Tbx3	T-box transcription factor 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1345948	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:17031801|REF_RGD_ID:2300329
8770763	Tbx3	T-box transcription factor 3	gene	DOID:50	thyroid gland disease		ISO	RGD:1345948	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23397585
8770763	Tbx3	T-box transcription factor 3	gene	DOID:5844	myocardial infarction		ISO	RGD:735203	D	RGD:9068941	20200609	RGD			PMID:19341743|REF_RGD_ID:5132891
8770763	Tbx3	T-box transcription factor 3	gene	DOID:630	genetic disease		ISO	RGD:1345948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8770763	Tbx3	T-box transcription factor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1557562	D	RGD:9068941	20220224	RGD			PMID:33577921|REF_RGD_ID:151361112
8770763	Tbx3	T-box transcription factor 3	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1345948	D	RGD:9068941	20220224	RGD		human cells in mouse model	PMID:22811581|PMID:26922018|REF_RGD_ID:151361123|REF_RGD_ID:151361132
8770763	Tbx3	T-box transcription factor 3	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1345948	D	RGD:9068941	20220224	RGD		protein:increased expression:liver (human)	PMID:30578408|REF_RGD_ID:151361122
8770763	Tbx3	T-box transcription factor 3	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1345948	D	RGD:9068941	20220224	RGD		protein:increased expression:liver (human)	PMID:29295731|REF_RGD_ID:151361114
8770763	Tbx3	T-box transcription factor 3	gene	DOID:7566	eccrine porocarcinoma		ISO	RGD:1345948	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Eccrine porocarcinoma	
8770763	Tbx3	T-box transcription factor 3	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1345948	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
8770763	Tbx3	T-box transcription factor 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1345948	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
8770763	Tbx3	T-box transcription factor 3	gene	DOID:9006294	Congenital Limb Deformities		ISO	RGD:1345948	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9207801
8770763	Tbx3	T-box transcription factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770763	Tbx3	T-box transcription factor 3	gene	DOID:9007653	Multiple Abnormalities	susceptibility	ISO	RGD:1345948	D	RGD:9068941	20200609	RGD		Ulnar-Mammary Syndrome, OMIM:181450;DNA:deletions, missense mutations, frameshift mutations: :multiple	PMID:10330342|REF_RGD_ID:1601419
8770763	Tbx3	T-box transcription factor 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:25741868
8770763	Tbx3	T-box transcription factor 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1345948	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21098263
8770763	Tbx3	T-box transcription factor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8770763	Tbx3	T-box transcription factor 3	gene	DOID:9009007	Tooth Abnormalities		ISO	RGD:1345948	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9207801
8770763	Tbx3	T-box transcription factor 3	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1345948	D	RGD:9068941	20220224	RGD		mRNA,protein:increased expression:colorectum (human)	PMID:25628943|REF_RGD_ID:151361126
8770778	Tmem185a	transmembrane protein 185A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8770778	Tmem185a	transmembrane protein 185A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8770778	Tmem185a	transmembrane protein 185A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770813	Rnaseh2c	ribonuclease H2 subunit C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
8770813	Rnaseh2c	ribonuclease H2 subunit C	gene	DOID:0050629	Aicardi-Goutieres syndrome		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aicardi Goutieres syndrome	PMID:17846997|PMID:21177854|PMID:24183309|PMID:25604658|PMID:25741868|PMID:28492532|PMID:28739201|PMID:30315573|PMID:32404165
8770813	Rnaseh2c	ribonuclease H2 subunit C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
8770813	Rnaseh2c	ribonuclease H2 subunit C	gene	DOID:10534	stomach cancer		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
8770813	Rnaseh2c	ribonuclease H2 subunit C	gene	DOID:10907	microcephaly		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16845400|PMID:19015152|PMID:21177854
8770813	Rnaseh2c	ribonuclease H2 subunit C	gene	DOID:1115	sarcoma		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
8770813	Rnaseh2c	ribonuclease H2 subunit C	gene	DOID:1909	melanoma		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
8770813	Rnaseh2c	ribonuclease H2 subunit C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
8770813	Rnaseh2c	ribonuclease H2 subunit C	gene	DOID:2975	cystic kidney disease		ISO	RGD:1604574	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: kidney cyst	PMID:16845400|PMID:17846997|PMID:19015152|PMID:19034401|PMID:20131292|PMID:21177854|PMID:23322642|PMID:25604658|PMID:25741868|PMID:28492532|PMID:29150899|PMID:29239743|PMID:31529068|PMID:34302356
8770813	Rnaseh2c	ribonuclease H2 subunit C	gene	DOID:3275	thymoma		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
8770813	Rnaseh2c	ribonuclease H2 subunit C	gene	DOID:4362	cervical cancer		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
8770813	Rnaseh2c	ribonuclease H2 subunit C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
8770813	Rnaseh2c	ribonuclease H2 subunit C	gene	DOID:630	genetic disease		ISO	RGD:1604574	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
8770813	Rnaseh2c	ribonuclease H2 subunit C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
8770813	Rnaseh2c	ribonuclease H2 subunit C	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
8770813	Rnaseh2c	ribonuclease H2 subunit C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
8770813	Rnaseh2c	ribonuclease H2 subunit C	gene	DOID:9008004	Aicardi-Goutieres Syndrome 3		ISO	RGD:1604574	D	RGD:7240710	20180130	OMIM			
8770813	Rnaseh2c	ribonuclease H2 subunit C	gene	DOID:9008004	Aicardi-Goutieres Syndrome 3		ISO	RGD:1604574	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition	PMID:16199547|PMID:17576681|PMID:17846997|PMID:20131292|PMID:21177854|PMID:24183309|PMID:25500883|PMID:25604658|PMID:25741868|PMID:26467025|PMID:27943079|PMID:28492532|PMID:28739201|PMID:29389947|PMID:30315573|PMID:31130681|PMID:32404165|PMID:33353557|PMID:34008892|PMID:34055681|PMID:35551623|PMID:36585007|PMID:36836134|PMID:37092250|PMID:38381212|PMID:38976295|PMID:9536098
8770813	Rnaseh2c	ribonuclease H2 subunit C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134|PMID:9536098
8770813	Rnaseh2c	ribonuclease H2 subunit C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:0050117	disease by infectious agent		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:10090880|PMID:10737995|PMID:10854115|PMID:11464238|PMID:11588211|PMID:11938447|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15717684|PMID:15805719|PMID:16439437|PMID:16627024|PMID:18097735|PMID:18328141|PMID:18662100|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21358337|PMID:21598804|PMID:21995303|PMID:22261745|PMID:22532615|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29599418|PMID:30915208|PMID:32312770|PMID:32741030|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9668175
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:0050908	myelodysplastic syndrome	susceptibility	ISO	RGD:737570	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:cds:p.M694V,E148Q(human)	PMID:22351163|REF_RGD_ID:11531114
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:0060260	ptosis		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:10090880|PMID:10737995|PMID:10854115|PMID:11464238|PMID:11588211|PMID:11938447|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15717684|PMID:15805719|PMID:16439437|PMID:16627024|PMID:18097735|PMID:18328141|PMID:18662100|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21358337|PMID:21598804|PMID:21995303|PMID:22261745|PMID:22532615|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29599418|PMID:30915208|PMID:32312770|PMID:32741030|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9668175
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:737570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis	
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:0080204	renal hypoplasia		ISO	RGD:737570	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:10090880|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26078663|PMID:26399837|PMID:26690517|PMID:27364639|PMID:28492532|PMID:29047407|PMID:29173686|PMID:29543225|PMID:29599418|PMID:30783801|PMID:30826945|PMID:31989427|PMID:32199921|PMID:32312770|PMID:32597225|PMID:32853466|PMID:33258288|PMID:33733382|PMID:34426522|PMID:35098403|PMID:35874679|PMID:37072232|PMID:39052144|PMID:39941383|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:0080746	Sweet syndrome		ISO	RGD:737570	D	RGD:7240710	20200701	OMIM			
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:0080746	Sweet syndrome		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute febrile neutrophilic dermatosis | ClinVar Annotator: match by term: Gomm Button disease | ClinVar Annotator: match by term: MEFV-related condition | ClinVar Annotator: match by term: NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE	PMID:10090880|PMID:10364520|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10854115|PMID:10879615|PMID:11242116|PMID:11464238|PMID:11464248|PMID:11470495|PMID:11528510|PMID:11588211|PMID:11938447|PMID:11977178|PMID:12955725|PMID:14578331|PMID:14679589|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15140375|PMID:15458961|PMID:15643295|PMID:15717684|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16378925|PMID:16439335|PMID:16439437|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16889173|PMID:17276496|PMID:17489852|PMID:17566872|PMID:17665427|PMID:17938136|PMID:18097735|PMID:18328141|PMID:18353061|PMID:18496034|PMID:18662100|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19479870|PMID:19531756|PMID:19777236|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19863562|PMID:19929404|PMID:19934083|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20890251|PMID:21153919|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22261745|PMID:22505824|PMID:22532615|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23164758|PMID:23334425|PMID:23400211|PMID:23505242|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23716950|PMID:23844200|PMID:23862117|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24158885|PMID:24251727|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24433404|PMID:24469716|PMID:24797171|PMID:24929125|PMID:24965843|PMID:25073670|PMID:25203624|PMID:25261100|PMID:25393764|PMID:25615955|PMID:25648235|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25810876|PMID:25866490|PMID:25959027|PMID:26005881|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26399837|PMID:26467025|PMID:26537665|PMID:26620106|PMID:26690517|PMID:26843738|PMID:2703059|PMID:27332769|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27659338|PMID:27884173|PMID:27994174|PMID:28001092|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28678379|PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29159471|PMID:29173686|PMID:29178647|PMID:29314707|PMID:29393966|PMID:29526930|PMID:29543225|PMID:29579081|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30409984|PMID:30476289|PMID:30476936|PMID:30487145|PMID:30513227|PMID:30546872|PMID:30686512|PMID:30698071|PMID:30783801|PMID:30826945|PMID:30915208|PMID:31088470|PMID:31411330|PMID:31522233|PMID:31531243|PMID:31693653|PMID:31804137|PMID:31989427|PMID:32082075|PMID:32133669|PMID:32199921|PMID:32312770|PMID:32401353|PMID:32476680|PMID:32597225|PMID:32716837|PMID:32741030|PMID:32818295|PMID:32824452|PMID:32853466|PMID:33079202|PMID:33223529|PMID:33258288|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:34276053|PMID:34426522|PMID:34441808|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34918114|PMID:35061158|PMID:35096640|PMID:35098403|PMID:35156637|PMID:35178266|PMID:35190906|PMID:35358658|PMID:35490273|PMID:35780723|PMID:35874679|PMID:36583259|PMID:36703223|PMID:37072232|PMID:37206860|PMID:37298536|PMID:37481715|PMID:37496121|PMID:39003954|PMID:39042260|PMID:39052144|PMID:39143349|PMID:39387426|PMID:39581688|PMID:39941383|PMID:40252570|PMID:41335224|PMID:5458961|PMID:9288758|PMID:9668175|PMID:9715731|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	PMID:10090880|PMID:10737992|PMID:14578331|PMID:15024744|PMID:16378925|PMID:16439335|PMID:16614989|PMID:16627024|PMID:16730661|PMID:17276496|PMID:17489852|PMID:17566872|PMID:18496034|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19777236|PMID:19786432|PMID:19863562|PMID:19934083|PMID:20008924|PMID:20041150|PMID:20165923|PMID:20177433|PMID:20534143|PMID:20645115|PMID:21246368|PMID:21413889|PMID:21598806|PMID:22019805|PMID:22614345|PMID:22661645|PMID:22903357|PMID:22975760|PMID:23031807|PMID:23716950|PMID:23907647|PMID:24123366|PMID:24929125|PMID:25393764|PMID:25648235|PMID:25741868|PMID:25793047|PMID:25810876|PMID:26005881|PMID:26360812|PMID:26467025|PMID:26843738|PMID:27659338|PMID:27884173|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28678379|PMID:28927886|PMID:28943464|PMID:29080837|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30513227|PMID:30686512|PMID:30698071|PMID:30783801|PMID:31411330|PMID:31531243|PMID:31693653|PMID:31804137|PMID:32401353|PMID:32716837|PMID:32818295|PMID:32824452|PMID:32853466|PMID:33079202|PMID:33440462|PMID:33726481|PMID:33733382|PMID:33738724|PMID:34426522|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34918114|PMID:35061158|PMID:35098403|PMID:35156637|PMID:35190906|PMID:35358658|PMID:36703223|PMID:39003954|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10090880|PMID:10737995|PMID:10854115|PMID:11464238|PMID:11588211|PMID:11938447|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15717684|PMID:15805719|PMID:16439437|PMID:16627024|PMID:18097735|PMID:18328141|PMID:18662100|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21358337|PMID:21598804|PMID:21995303|PMID:22261745|PMID:22532615|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29599418|PMID:30915208|PMID:32312770|PMID:32741030|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9668175
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:1074	kidney failure		ISO	RGD:737570	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Renal failure	PMID:10090880|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26078663|PMID:26399837|PMID:26690517|PMID:27364639|PMID:28492532|PMID:29047407|PMID:29173686|PMID:29543225|PMID:29599418|PMID:30783801|PMID:30826945|PMID:31989427|PMID:32199921|PMID:32312770|PMID:32597225|PMID:32853466|PMID:33258288|PMID:33733382|PMID:34426522|PMID:35098403|PMID:35874679|PMID:37072232|PMID:39052144|PMID:39941383|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:11123	IgA vasculitis		ISO	RGD:737570	D	RGD:9068941	20200609	RGD		DNA:mutation:exon:p. E148Q (human)	PMID:20602240|REF_RGD_ID:7349347
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:11123	IgA vasculitis		ISO	RGD:737570	D	RGD:9068941	20200609	RGD		DNA:mutations:exons:	PMID:22451026|REF_RGD_ID:7349346
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:11123	IgA vasculitis	susceptibility	ISO	RGD:737570	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:	PMID:25232290|REF_RGD_ID:11531116
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:1115	sarcoma		ISO	RGD:737570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:11162	respiratory failure		ISO	RGD:737570	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:10090880|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26078663|PMID:26399837|PMID:26690517|PMID:27364639|PMID:28492532|PMID:29047407|PMID:29173686|PMID:29543225|PMID:29599418|PMID:30783801|PMID:30826945|PMID:31989427|PMID:32199921|PMID:32312770|PMID:32597225|PMID:32853466|PMID:33258288|PMID:33733382|PMID:34426522|PMID:35098403|PMID:35874679|PMID:37072232|PMID:39052144|PMID:39941383|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:11383	cryptorchidism		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Unilateral cryptorchidism	PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11470495|PMID:11528510|PMID:11938447|PMID:11977178|PMID:15643295|PMID:15942916|PMID:16627024|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:20301405|PMID:21290976|PMID:21600797|PMID:22037353|PMID:23031807|PMID:23164758|PMID:23334425|PMID:23907647|PMID:24318677|PMID:24369413|PMID:25741868|PMID:26215181|PMID:28492532|PMID:29393966|PMID:30171907|PMID:31088470|PMID:32476680|PMID:33223529|PMID:9288758|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:11830	myopia		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:10090880|PMID:10737995|PMID:10854115|PMID:11464238|PMID:11588211|PMID:11938447|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15717684|PMID:15805719|PMID:16439437|PMID:16627024|PMID:18097735|PMID:18328141|PMID:18662100|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21358337|PMID:21598804|PMID:21995303|PMID:22261745|PMID:22532615|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29599418|PMID:30915208|PMID:32312770|PMID:32741030|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9668175
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:1184	nephrotic syndrome		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:10090880|PMID:10737992|PMID:14578331|PMID:15024744|PMID:16378925|PMID:16439335|PMID:16614989|PMID:16627024|PMID:16730661|PMID:17276496|PMID:17489852|PMID:17566872|PMID:18496034|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19777236|PMID:19786432|PMID:19863562|PMID:19934083|PMID:20008924|PMID:20041150|PMID:20165923|PMID:20177433|PMID:20534143|PMID:20645115|PMID:21246368|PMID:21413889|PMID:21598806|PMID:22019805|PMID:22614345|PMID:22661645|PMID:22903357|PMID:22975760|PMID:23031807|PMID:23716950|PMID:23907647|PMID:24123366|PMID:24929125|PMID:25393764|PMID:25648235|PMID:25741868|PMID:25793047|PMID:25810876|PMID:26005881|PMID:26360812|PMID:26467025|PMID:26843738|PMID:27659338|PMID:27884173|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28678379|PMID:28927886|PMID:28943464|PMID:29080837|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30513227|PMID:30686512|PMID:30698071|PMID:30783801|PMID:31411330|PMID:31531243|PMID:31693653|PMID:31804137|PMID:32401353|PMID:32716837|PMID:32818295|PMID:32824452|PMID:32853466|PMID:33079202|PMID:33440462|PMID:33726481|PMID:33733382|PMID:33738724|PMID:34426522|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34918114|PMID:35061158|PMID:35098403|PMID:35156637|PMID:35190906|PMID:35358658|PMID:36703223|PMID:39003954|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:10090880|PMID:10737992|PMID:14578331|PMID:15024744|PMID:16378925|PMID:16439335|PMID:16614989|PMID:16627024|PMID:16730661|PMID:17276496|PMID:17489852|PMID:17566872|PMID:18496034|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19777236|PMID:19786432|PMID:19863562|PMID:19934083|PMID:20008924|PMID:20041150|PMID:20165923|PMID:20177433|PMID:20534143|PMID:20645115|PMID:21246368|PMID:21413889|PMID:21598806|PMID:22019805|PMID:22614345|PMID:22661645|PMID:22903357|PMID:22975760|PMID:23031807|PMID:23716950|PMID:23907647|PMID:24123366|PMID:24929125|PMID:25393764|PMID:25648235|PMID:25741868|PMID:25793047|PMID:25810876|PMID:26005881|PMID:26360812|PMID:26467025|PMID:26843738|PMID:27659338|PMID:27884173|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28678379|PMID:28927886|PMID:28943464|PMID:29080837|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30513227|PMID:30686512|PMID:30698071|PMID:30783801|PMID:31411330|PMID:31531243|PMID:31693653|PMID:31804137|PMID:32401353|PMID:32716837|PMID:32818295|PMID:32824452|PMID:32853466|PMID:33079202|PMID:33440462|PMID:33726481|PMID:33733382|PMID:33738724|PMID:34426522|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34918114|PMID:35061158|PMID:35098403|PMID:35156637|PMID:35190906|PMID:35358658|PMID:36703223|PMID:39003954|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:13241	Behcet's disease		ISO	RGD:737570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Behcet disease	PMID:28492532|PMID:28814775
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:737570	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia	PMID:10090880|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26078663|PMID:26399837|PMID:26690517|PMID:27364639|PMID:28492532|PMID:29047407|PMID:29173686|PMID:29543225|PMID:29599418|PMID:30783801|PMID:30826945|PMID:31989427|PMID:32199921|PMID:32312770|PMID:32597225|PMID:32853466|PMID:33258288|PMID:33733382|PMID:34426522|PMID:35098403|PMID:35874679|PMID:37072232|PMID:39052144|PMID:39941383|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:737570	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:10090880|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26078663|PMID:26399837|PMID:26690517|PMID:27364639|PMID:28492532|PMID:29047407|PMID:29173686|PMID:29543225|PMID:29599418|PMID:30783801|PMID:30826945|PMID:31989427|PMID:32199921|PMID:32312770|PMID:32597225|PMID:32853466|PMID:33258288|PMID:33733382|PMID:34426522|PMID:35098403|PMID:35874679|PMID:37072232|PMID:39052144|PMID:39941383|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:14219	renal tubular acidosis		ISO	RGD:737570	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Renal tubular acidosis	PMID:10090880|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26078663|PMID:26399837|PMID:26690517|PMID:27364639|PMID:28492532|PMID:29047407|PMID:29173686|PMID:29543225|PMID:29599418|PMID:30783801|PMID:30826945|PMID:31989427|PMID:32199921|PMID:32312770|PMID:32597225|PMID:32853466|PMID:33258288|PMID:33733382|PMID:34426522|PMID:35098403|PMID:35874679|PMID:37072232|PMID:39052144|PMID:39941383|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:14499	Fabry disease		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Fabry disease	PMID:10090880|PMID:10737995|PMID:10854115|PMID:11464238|PMID:11588211|PMID:11938447|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15717684|PMID:15805719|PMID:16439437|PMID:16627024|PMID:18097735|PMID:18328141|PMID:18662100|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21358337|PMID:21598804|PMID:21995303|PMID:22261745|PMID:22532615|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29599418|PMID:30915208|PMID:32312770|PMID:32741030|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9668175
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:737570	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:25741868|PMID:2703059|PMID:34276053
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:14766	renal agenesis		ISO	RGD:737570	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Renal agenesis	PMID:10090880|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26078663|PMID:26399837|PMID:26690517|PMID:27364639|PMID:28492532|PMID:29047407|PMID:29173686|PMID:29543225|PMID:29599418|PMID:30783801|PMID:30826945|PMID:31989427|PMID:32199921|PMID:32312770|PMID:32597225|PMID:32853466|PMID:33258288|PMID:33733382|PMID:34426522|PMID:35098403|PMID:35874679|PMID:37072232|PMID:39052144|PMID:39941383|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:1555	urticaria		ISO	RGD:737570	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Urticaria	PMID:10090880|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26078663|PMID:26399837|PMID:26690517|PMID:27364639|PMID:28492532|PMID:29047407|PMID:29173686|PMID:29543225|PMID:29599418|PMID:30783801|PMID:30826945|PMID:31989427|PMID:32199921|PMID:32312770|PMID:32597225|PMID:32853466|PMID:33258288|PMID:33733382|PMID:34426522|PMID:35098403|PMID:35874679|PMID:37072232|PMID:39052144|PMID:39941383|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:1657	ventricular septal defect		ISO	RGD:737570	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:10090880|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26078663|PMID:26399837|PMID:26690517|PMID:27364639|PMID:28492532|PMID:29047407|PMID:29173686|PMID:29543225|PMID:29599418|PMID:30783801|PMID:30826945|PMID:31989427|PMID:32199921|PMID:32312770|PMID:32597225|PMID:32853466|PMID:33258288|PMID:33733382|PMID:34426522|PMID:35098403|PMID:35874679|PMID:37072232|PMID:39052144|PMID:39941383|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:1826	epilepsy		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11470495|PMID:11528510|PMID:11938447|PMID:11977178|PMID:15643295|PMID:15942916|PMID:16627024|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:20301405|PMID:21290976|PMID:21600797|PMID:22037353|PMID:23031807|PMID:23164758|PMID:23334425|PMID:23907647|PMID:24318677|PMID:24369413|PMID:25741868|PMID:26215181|PMID:28492532|PMID:29393966|PMID:30171907|PMID:31088470|PMID:32476680|PMID:33223529|PMID:9288758|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:1837	diabetic ketoacidosis		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diabetic ketoacidosis	PMID:10090880|PMID:10737995|PMID:10854115|PMID:11464238|PMID:11588211|PMID:11938447|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15717684|PMID:15805719|PMID:16439437|PMID:16627024|PMID:18097735|PMID:18328141|PMID:18662100|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21358337|PMID:21598804|PMID:21995303|PMID:22261745|PMID:22532615|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29599418|PMID:30915208|PMID:32312770|PMID:32741030|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9668175
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2280	hidradenitis suppurativa		ISO	RGD:737570	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2841	asthma		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:10090880|PMID:10737995|PMID:10854115|PMID:11464238|PMID:11588211|PMID:11938447|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15717684|PMID:15805719|PMID:16439437|PMID:16627024|PMID:18097735|PMID:18328141|PMID:18662100|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21358337|PMID:21598804|PMID:21995303|PMID:22261745|PMID:22532615|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29599418|PMID:30915208|PMID:32312770|PMID:32741030|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9668175
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2841	asthma	susceptibility	ISO	RGD:737570	D	RGD:9068941	20200609	RGD		DNA:mutations:exons	PMID:18219832|REF_RGD_ID:5129186
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:737570	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11175300|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14612366|PMID:14679589|PMID:14727057|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15168590|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17665427|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19253030|PMID:19449169|PMID:19466506|PMID:19531756|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20828792|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22207183|PMID:22261745|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23164758|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24702757|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24965843|PMID:25006247|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138|PMID:26759267|PMID:26843738|PMID:26933204|PMID:27030597|PMID:27100444|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27733942|PMID:27838405|PMID:27884173|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28302131|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28750028|PMID:28863210
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:737570	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29526930|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30546872|PMID:30783801|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31411330|PMID:31531243|PMID:31620089|PMID:31646357|PMID:31989427|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32401353|PMID:32461654|PMID:32741030|PMID:32853466|PMID:32909274|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:34426522|PMID:35098403|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9527614|PMID:9668175|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:737570	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11175300|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14679589|PMID:14727057|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15146467|PMID:15168590|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17665427|PMID:17665448|PMID:17934081|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19531756|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22261745|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24702757|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24965843|PMID:25006247|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26399837|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138|PMID:26759267|PMID:26843738|PMID:26933204|PMID:27030597|PMID:27100444|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27838405|PMID:27884173|PMID:27956278|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28302131|PMID:28386255|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:737570	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:28597968|PMID:28750028|PMID:28863210|PMID:28927886|PMID:28943464|PMID:29040788|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29526930|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30546872|PMID:30783801|PMID:30887796|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31411330|PMID:31512232|PMID:31531243|PMID:31598713|PMID:31620089|PMID:31646357|PMID:31989427|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32401353|PMID:32447396|PMID:32461654|PMID:32741030|PMID:32853466|PMID:32909274|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:34120219|PMID:34328662|PMID:34426522|PMID:35098403|PMID:35298548|PMID:35358658|PMID:35490273|PMID:35780723|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9527614|PMID:9668175|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:737570	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11175300|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14679589|PMID:14727057|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15146467|PMID:15168590|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17665427|PMID:17665448|PMID:17934081|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19531756|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22261745|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24702757|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24965843|PMID:25006247|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25810876|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26005881|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26399837|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138|PMID:26759267|PMID:26843738|PMID:26933204|PMID:27030597|PMID:27100444|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27838405|PMID:27884173|PMID:27956278|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28302131|PMID:28386255|PMID:28421071|PMID:28483595|PMID:28492532
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:737570	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:28573371|PMID:28590056|PMID:28597968|PMID:28678379|PMID:28750028|PMID:28863210|PMID:28927886|PMID:28943464|PMID:29040788|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29526930|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30513227|PMID:30546872|PMID:30686512|PMID:30698071|PMID:30783801|PMID:30887796|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31411330|PMID:31512232|PMID:31531243|PMID:31598713|PMID:31620089|PMID:31646357|PMID:31693653|PMID:31989427|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32398039|PMID:32401353|PMID:32447396|PMID:32461654|PMID:32716837|PMID:32741030|PMID:32818295|PMID:32824452|PMID:32853466|PMID:32909274|PMID:33079202|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:34120219|PMID:34328662|PMID:34426522|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34880353|PMID:34918114|PMID:35061158|PMID:35098403|PMID:35156637|PMID:35190906|PMID:35298548|PMID:35358658|PMID:35490273|PMID:35780723|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9527614|PMID:9668175|PMID:9715731|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:737570	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:28386255|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28678379|PMID:28750028|PMID:28863210|PMID:28927886|PMID:28943464|PMID:29040788|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29393966|PMID:29526930|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30513227|PMID:30546872|PMID:30686512|PMID:30698071|PMID:30783801|PMID:30887796|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31411330|PMID:31512232|PMID:31531243|PMID:31598713|PMID:31620089|PMID:31646357|PMID:31693653|PMID:31989427|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32398039|PMID:32401353|PMID:32447396|PMID:32461654|PMID:32676558|PMID:32716837|PMID:32741030|PMID:32818295|PMID:32824452|PMID:32853466|PMID:32909274|PMID:33079202|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:34120219|PMID:34328662|PMID:34426522|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34880353|PMID:34918114|PMID:34988684|PMID:35061158|PMID:35098403|PMID:35156637|PMID:35190906|PMID:35298548|PMID:35358658|PMID:35490273|PMID:35780723|PMID:36076017|PMID:36777733|PMID:37481715|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9527614|PMID:9668175|PMID:9715731|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:737570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:10090880|PMID:10364520|PMID:10737992|PMID:10737995|PMID:10854115|PMID:10980540|PMID:11464238|PMID:11464248|PMID:11470495|PMID:11528510|PMID:11588211|PMID:11903360|PMID:11938447|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14679589|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15805719|PMID:16378925|PMID:16403826|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16627024|PMID:16730661|PMID:17276496|PMID:17489852|PMID:17566872|PMID:17665427|PMID:17934081|PMID:18097735|PMID:18328141|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19253030|PMID:19531756|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20041150|PMID:20165923|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20688806|PMID:20890251|PMID:21246368|PMID:21358337|PMID:21413889|PMID:21598804|PMID:21600797|PMID:21995303|PMID:22019805|PMID:22261745|PMID:22337722|PMID:22451026|PMID:22505824|PMID:22532615|PMID:22580583|PMID:22614345|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22934972|PMID:22995991|PMID:23010357|PMID:23070486|PMID:23325590|PMID:23400211|PMID:23463692|PMID:23505242|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23844200|PMID:23867542|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24117178|PMID:24233262|PMID:24289199|PMID:24318677|PMID:24381109|PMID:24433404|PMID:24469716|PMID:24797171|PMID:24929125|PMID:24965843|PMID:25073670|PMID:25203624|PMID:25261100|PMID:25393764|PMID:25648235|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25866490|PMID:25959027|PMID:26003477|PMID:26028444|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26360812|PMID:26467025|PMID:26537665|PMID:26554556|PMID:26585190|PMID:26620106|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27838405|PMID:27956278|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28302131|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28597968|PMID:28750028|PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29379228|PMID:29393966|PMID:29526930|PMID:29599418|PMID:29735907|PMID:29927949|PMID:30476936|PMID:30546872|PMID:30915208|PMID:31088470|PMID:31204589|PMID:31411330|PMID:31646357|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32741030|PMID:33497256|PMID:33560333|PMID:33576586|PMID:33715276|PMID:33733382|PMID:33738724|PMID:33747591|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35298548|PMID:35358658|PMID:35490273|PMID:35780723|PMID:35812376|PMID:36583259|PMID:36703223|PMID:37206860|PMID:37298536|PMID:37481715|PMID:39042260|PMID:39143349|PMID:40067091|PMID:40252570|PMID:41335224|PMID:5458961|PMID:7677151|PMID:9288758|PMID:9668175
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome | ClinVar Annotator: match by term: LYST-related condition	PMID:10090880|PMID:10364520|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10854115|PMID:10879615|PMID:10980540|PMID:11464238|PMID:11464248|PMID:11470495|PMID:11528510|PMID:11588211|PMID:11938447|PMID:11977178|PMID:12496512|PMID:12955725|PMID:14527383|PMID:14527388|PMID:14578331|PMID:14679589|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15458961|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16378925|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16889173|PMID:17276496|PMID:17489852|PMID:17566872|PMID:17584123|PMID:17665427|PMID:17805543|PMID:18097735|PMID:18328141|PMID:18353061|PMID:18403822|PMID:18496034|PMID:18609258|PMID:18662100|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19505404|PMID:19531756|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19863562|PMID:19929404|PMID:19934083|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20890251|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22261745|PMID:22505824|PMID:22532615|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23031807|PMID:23164758|PMID:23334425|PMID:23400211|PMID:23505242|PMID:23588594|PMID:23592051|PMID:23716950|PMID:23844200|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24233262|PMID:24251727|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24433404|PMID:24469716|PMID:24797171|PMID:24929125|PMID:24965843|PMID:25006247|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25615955|PMID:25648235|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25810876|PMID:25866490|PMID:25959027|PMID:26005881|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26399837|PMID:26467025|PMID:26537665|PMID:26690517|PMID:26843738|PMID:27364639|PMID:27457448|PMID:27659338|PMID:27884173|PMID:27994174|PMID:28001092|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28678379|PMID:28750028|PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29159471|PMID:29173686|PMID:29178647|PMID:29314707|PMID:29393966|PMID:29526930|PMID:29543225|PMID:29575132|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:30171907|PMID:30409984|PMID:30476289|PMID:30476936|PMID:30487145|PMID:30513227|PMID:30546872|PMID:30686512|PMID:30698071|PMID:30783801|PMID:30826945|PMID:30915208|PMID:31088470|PMID:31411330|PMID:31531243|PMID:31693653|PMID:31804137|PMID:31989427|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32401353|PMID:32476680|PMID:32597225|PMID:32716837|PMID:32741030|PMID:32818295|PMID:32824452|PMID:32853466|PMID:33079202|PMID:33223529|PMID:33258288|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:34426522|PMID:34441808|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34918114|PMID:35061158|PMID:35096640|PMID:35098403|PMID:35156637|PMID:35178266|PMID:35190906|PMID:35358658|PMID:35490273|PMID:35658515|PMID:35780723|PMID:35874679|PMID:36583259|PMID:36703223|PMID:37072232|PMID:37206860|PMID:37298536|PMID:37481715|PMID:37714974|PMID:38510149|PMID:39003954|PMID:39052144|PMID:39143349|PMID:39228674|PMID:39941383|PMID:40252570|PMID:41335224|PMID:5458961|PMID:9288758|PMID:9668175|PMID:9715731|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2965	bursitis		ISO	RGD:737570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bursitis	PMID:22995991|PMID:24117178|PMID:25741868|PMID:25760918|PMID:28421071|PMID:28492532|PMID:29178647|PMID:30476936|PMID:31411330|PMID:32082075|PMID:37298536|PMID:40252570|PMID:41335224
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2987	familial Mediterranean fever		ISO	RGD:737570	D	RGD:7240710	20180130	OMIM			
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2987	familial Mediterranean fever		ISO	RGD:737570	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Familial Periodic Fever | ClinVar Annotator: match by term: Periodic disease	PMID:26933204|PMID:2703059|PMID:27030597|PMID:27100444|PMID:27310525|PMID:27332769|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27838405|PMID:27872624|PMID:27884173|PMID:27956278|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28289585|PMID:28302131|PMID:28340799|PMID:28386255|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28678379|PMID:28750028|PMID:28814775|PMID:28863210|PMID:28927886|PMID:28943464|PMID:29040788|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29151129|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29526930|PMID:29543225|PMID:29579081|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30513227|PMID:30546872|PMID:30686512|PMID:30698071|PMID:30783801|PMID:30887796|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31329540|PMID:31411330|PMID:31512232|PMID:31522233|PMID:31531243|PMID:31589380|PMID:31598713|PMID:31620089|PMID:31646357|PMID:31693653|PMID:31803701|PMID:31989427|PMID:31998953|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32359823|PMID:32398039|PMID:32401353|PMID:32441320|PMID:32447396|PMID:32461654|PMID:32716837|PMID:32741030|PMID:32818295|PMID:32824452|PMID:32853466|PMID:32909274|PMID:33079202|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:33813620|PMID:34120219|PMID:34328662|PMID:34426522|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34880353|PMID:34918114|PMID:34988684|PMID:35061158|PMID:35098403|PMID:35156637|PMID:35190906|PMID:35298548|PMID:35358658|PMID:35490273|PMID:35780723|PMID:36076017|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9336425|PMID:9527614|PMID:9536098|PMID:9668175|PMID:9715731|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2987	familial Mediterranean fever		ISO	RGD:737570	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Periodic disease	PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11175300|PMID:11242116|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11528510|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14679589|PMID:14727057|PMID:14985395|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15146467|PMID:15168590|PMID:15300846|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16199547|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17576681|PMID:17594097|PMID:17665427|PMID:17665448|PMID:17934081|PMID:17938136|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19193696|PMID:19253030|PMID:19262573|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19479870|PMID:19531756|PMID:19729025|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22261745|PMID:22281876|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23280696|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23862117|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24158885|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24301775|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24630722|PMID:24702757|PMID:24718488|PMID:24760114|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24950168|PMID:24965843|PMID:25006247|PMID:25036384|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25332561|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25810876|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26005881|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26399837|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26574972|PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138|PMID:26759267|PMID:26843738|PMID:26933204
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2987	familial Mediterranean fever		ISO	RGD:737570	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Periodic disease	PMID:2703059|PMID:27030597|PMID:27100444|PMID:27310525|PMID:27332769|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27838405|PMID:27872624|PMID:27884173|PMID:27956278|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28289585|PMID:28302131|PMID:28340799|PMID:28386255|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28678379|PMID:28750028|PMID:28814775|PMID:28863210|PMID:28927886|PMID:28943464|PMID:29040788|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29151129|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29393966|PMID:29526930|PMID:29543225|PMID:29579081|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30513227|PMID:30546872|PMID:30686512|PMID:30698071|PMID:30783801|PMID:30887796|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31329540|PMID:31411330|PMID:31512232|PMID:31522233|PMID:31531243|PMID:31589380|PMID:31598713|PMID:31620089|PMID:31646357|PMID:31693653|PMID:31803701|PMID:31989427|PMID:31998953|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32359823|PMID:32398039|PMID:32401353|PMID:32441320|PMID:32447396|PMID:32461654|PMID:32676558|PMID:32716837|PMID:32741030|PMID:32818295|PMID:32824452|PMID:32853466|PMID:32909274|PMID:33079202|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:33813620|PMID:34120219|PMID:34276053|PMID:34328662|PMID:34426522|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34880353|PMID:34918114|PMID:34988684|PMID:35061158|PMID:35098403|PMID:35156637|PMID:35190906|PMID:35298548|PMID:35358658|PMID:35490273|PMID:35780723|PMID:36076017|PMID:37481715|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9336425|PMID:9527614|PMID:9536098|PMID:9668175|PMID:9715731|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2987	familial Mediterranean fever		ISO	RGD:737570	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Benign paroxysmal peritonitis | ClinVar Annotator: match by term: Familial Mediterranean fever	PMID:10024914|PMID:10090880|PMID:10225357|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10612841|PMID:10662876|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11175300|PMID:11242116|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11528510|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11973627|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14679589|PMID:14727057|PMID:14985395|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15146467|PMID:15168590|PMID:15300846|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16199547|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17576681|PMID:17594097|PMID:17665427|PMID:17665448|PMID:17934081|PMID:17938136|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19193696|PMID:19253030|PMID:19262573|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19479870|PMID:19531756|PMID:19729025|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22261745|PMID:22281876|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23164758|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23280696|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23862117|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24158885|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24301775|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24630722|PMID:24702757|PMID:24718488|PMID:24760114|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24930953|PMID:24950168|PMID:24965843|PMID:25006247|PMID:25036384|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25332561|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25810876|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:25988833|PMID:26003477|PMID:26005881|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26176758|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26399837|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26574972
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2987	familial Mediterranean fever		ISO	RGD:737570	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Benign paroxysmal peritonitis | ClinVar Annotator: match by term: Familial Mediterranean fever	PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138|PMID:26759267|PMID:26843738|PMID:26933204|PMID:2703059|PMID:27030597|PMID:27100444|PMID:27270401|PMID:27310525|PMID:27332769|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27838405|PMID:27872624|PMID:27884173|PMID:27956278|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28289585|PMID:28302131|PMID:28340799|PMID:28386255|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28678379|PMID:28750028|PMID:28814775|PMID:28863210|PMID:28927886|PMID:28943464|PMID:29040788|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29151129|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29393966|PMID:29490685|PMID:29526930|PMID:29543225|PMID:29579081|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30513227|PMID:30546872|PMID:30686512|PMID:30698071|PMID:30783801|PMID:30887796|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31329540|PMID:31411330|PMID:31512232|PMID:31522233|PMID:31531243|PMID:31589380|PMID:31598713|PMID:31620089|PMID:31646357|PMID:31693653|PMID:31803701|PMID:31989427|PMID:31998953|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32359823|PMID:32398039|PMID:32401353|PMID:32441320|PMID:32447396|PMID:32461654|PMID:32676558|PMID:32716837|PMID:32741030|PMID:32818295|PMID:32824452|PMID:32853466|PMID:32909274|PMID:33079202|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:33813620|PMID:34120219|PMID:34276053|PMID:34328662|PMID:34426522|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34880353|PMID:34918114|PMID:34988684|PMID:35061158|PMID:35098403|PMID:35156637|PMID:35190906|PMID:35298548|PMID:35358658|PMID:35490273|PMID:35658515|PMID:35780723|PMID:36076017|PMID:36703223|PMID:36777733|PMID:37481715|PMID:38780575|PMID:39003954|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288096|PMID:9288758|PMID:9336425|PMID:9527614|PMID:9536098|PMID:9618171|PMID:9668175|PMID:9715731|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2987	familial Mediterranean fever		ISO	RGD:737570	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Benign paroxysmal peritonitis | ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Periodic fever syndrome	PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10612841|PMID:10662876|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11175300|PMID:11242116|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11528510|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14679589|PMID:14727057|PMID:14985395|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15146467|PMID:15168590|PMID:15300846|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16199547|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17576681|PMID:17594097|PMID:17665427|PMID:17665448|PMID:17934081|PMID:17938136|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19193696|PMID:19253030|PMID:19262573|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19479870|PMID:19531756|PMID:19729025|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22261745|PMID:22281876|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23164758|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23280696|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23862117|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24158885|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24301775|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24630722|PMID:24702757|PMID:24718488|PMID:24760114|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24950168|PMID:24965843|PMID:25006247|PMID:25036384|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25332561|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25810876|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:25988833|PMID:26003477|PMID:26005881|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26176758|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26399837|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26574972|PMID:26585190|PMID:26620106|PMID:26690517
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2987	familial Mediterranean fever		ISO	RGD:737570	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Benign paroxysmal peritonitis | ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Periodic fever syndrome	PMID:26722138|PMID:26759267|PMID:26843738|PMID:26933204|PMID:2703059|PMID:27030597|PMID:27100444|PMID:27270401|PMID:27310525|PMID:27332769|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27838405|PMID:27872624|PMID:27884173|PMID:27956278|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28289585|PMID:28302131|PMID:28340799|PMID:28386255|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28678379|PMID:28750028|PMID:28814775|PMID:28863210|PMID:28927886|PMID:28943464|PMID:29040788|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29151129|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29393966|PMID:29490685|PMID:29526930|PMID:29543225|PMID:29579081|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30513227|PMID:30546872|PMID:30686512|PMID:30698071|PMID:30783801|PMID:30887796|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31329540|PMID:31411330|PMID:31512232|PMID:31522233|PMID:31531243|PMID:31589380|PMID:31598713|PMID:31620089|PMID:31646357|PMID:31693653|PMID:31803701|PMID:31989427|PMID:31998953|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32359823|PMID:32398039|PMID:32401353|PMID:32441320|PMID:32447396|PMID:32461654|PMID:32676558|PMID:32716837|PMID:32741030|PMID:32818295|PMID:32824452|PMID:32853466|PMID:32909274|PMID:33079202|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:33813620|PMID:34120219|PMID:34276053|PMID:34328662|PMID:34426522|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34880353|PMID:34918114|PMID:34988684|PMID:35061158|PMID:35098403|PMID:35156637|PMID:35190906|PMID:35298548|PMID:35358658|PMID:35490273|PMID:35658515|PMID:35780723|PMID:36076017|PMID:36703223|PMID:36777733|PMID:37481715|PMID:38780575|PMID:39003954|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9336425|PMID:9527614|PMID:9536098|PMID:9668175|PMID:9715731|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2987	familial Mediterranean fever		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Benign paroxysmal peritonitis | ClinVar Annotator: match by term: Familial Mediterranean Fever | ClinVar Annotator: match by term: Familial Mediterranean fever	PMID:10090880|PMID:10364520|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10854115|PMID:10879615|PMID:10980540|PMID:11175300|PMID:11242116|PMID:11464238|PMID:11464248|PMID:11470495|PMID:11528510|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12496512|PMID:12955725|PMID:14527383|PMID:14527388|PMID:14578331|PMID:14679589|PMID:14985395|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15140375|PMID:15300846|PMID:15458961|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16199547|PMID:16378925|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16889173|PMID:17276496|PMID:17489852|PMID:17566872|PMID:17576681|PMID:17584123|PMID:17594097|PMID:17665427|PMID:17805543|PMID:17934081|PMID:17938136|PMID:18061974|PMID:18097735|PMID:18177465|PMID:18328141|PMID:18353061|PMID:18403822|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19253030|PMID:19262573|PMID:19302049|PMID:19449169|PMID:19479870|PMID:19505404|PMID:19531756|PMID:19729025|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19863562|PMID:19929404|PMID:19934083|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20165923|PMID:20177433|PMID:20217092|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20534143|PMID:20549290|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20890251|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22261745|PMID:22281876|PMID:22337722|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23010357|PMID:23031807|PMID:23070486|PMID:23137073|PMID:23164758|PMID:23280696|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23463692|PMID:23505242|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23716950|PMID:23844200|PMID:23862117|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24158885|PMID:24233262|PMID:24251727|PMID:24289199|PMID:24301775|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24433404|PMID:24469716|PMID:24630722|PMID:24702757|PMID:24718488|PMID:24760114|PMID:24797171|PMID:24929125|PMID:24965843|PMID:25006247|PMID:25036384|PMID:25073670|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25332561|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25810876|PMID:25866490|PMID:25959027|PMID:25988833|PMID:26005881|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26399837|PMID:26467025|PMID:26537665|PMID:26554556|PMID:26574972|PMID:26620106|PMID:26690517|PMID:26843738|PMID:2703059|PMID:27030597|PMID:27100444|PMID:27310525|PMID:27332769|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27659338|PMID:27838405|PMID:27872624|PMID:27884173|PMID:27956278|PMID:27994174|PMID:28001092|PMID:28289585|PMID:28302131|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28678379|PMID:28750028|PMID:28814775|PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29151129|PMID:29159471|PMID:29173686|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29393966|PMID:29526930|PMID:29543225|PMID:29575132|PMID:29579081|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30355575|PMID:30409984|PMID:30476289|PMID:30476936|PMID:30487145|PMID:30513227|PMID:30546872|PMID:30686512|PMID:30698071|PMID:30783801|PMID:30826945|PMID:30915208|PMID:31088470|PMID:31329540|PMID:31411330|PMID:31512232|PMID:31531243
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:2987	familial Mediterranean fever		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Benign paroxysmal peritonitis | ClinVar Annotator: match by term: Familial Mediterranean Fever | ClinVar Annotator: match by term: Familial Mediterranean fever	PMID:31589380|PMID:31692716|PMID:31693653|PMID:31803701|PMID:31804137|PMID:31989427|PMID:31998953|PMID:32082075|PMID:32133669|PMID:32199921|PMID:32312770|PMID:32359823|PMID:32401353|PMID:32441320|PMID:32476680|PMID:32597225|PMID:32716837|PMID:32741030|PMID:32818295|PMID:32824452|PMID:32853466|PMID:33079202|PMID:33223529|PMID:33258288|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:33815380|PMID:34276053|PMID:34426522|PMID:34441808|PMID:34606655|PMID:34612144|PMID:34643647|PMID:34665572|PMID:34739572|PMID:34918114|PMID:35061158|PMID:35096640|PMID:35098403|PMID:35156637|PMID:35178266|PMID:35190906|PMID:35298548|PMID:35358658|PMID:35490273|PMID:35658515|PMID:35780723|PMID:35812376|PMID:35874679|PMID:36321013|PMID:36583259|PMID:36703223|PMID:36870084|PMID:37072232|PMID:37198371|PMID:37206860|PMID:37228026|PMID:37298536|PMID:37481715|PMID:37496121|PMID:37714974|PMID:38510149|PMID:38775516|PMID:38780575|PMID:39003954|PMID:39042260|PMID:39052144|PMID:39143349|PMID:39228674|PMID:39387426|PMID:39581688|PMID:39941383|PMID:40252570|PMID:40368691|PMID:41335224|PMID:5458961|PMID:9288758|PMID:9536098|PMID:9668175|PMID:9715731|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:3529	congenital myopathy 1A		ISO	RGD:737570	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Central core myopathy	PMID:25741868|PMID:28492532
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:4362	cervical cancer		ISO	RGD:737570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:480	movement disease		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11470495|PMID:11528510|PMID:11938447|PMID:11977178|PMID:15643295|PMID:15942916|PMID:16627024|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:20301405|PMID:21290976|PMID:21600797|PMID:22037353|PMID:23031807|PMID:23164758|PMID:23334425|PMID:23907647|PMID:24318677|PMID:24369413|PMID:25741868|PMID:26215181|PMID:28492532|PMID:29393966|PMID:30171907|PMID:31088470|PMID:32476680|PMID:33223529|PMID:9288758|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:576	proteinuria		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:10090880|PMID:10737992|PMID:14578331|PMID:15024744|PMID:16378925|PMID:16439335|PMID:16614989|PMID:16627024|PMID:16730661|PMID:17276496|PMID:17489852|PMID:17566872|PMID:18496034|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19777236|PMID:19786432|PMID:19863562|PMID:19934083|PMID:20008924|PMID:20041150|PMID:20165923|PMID:20177433|PMID:20534143|PMID:20645115|PMID:21246368|PMID:21413889|PMID:21598806|PMID:22019805|PMID:22614345|PMID:22661645|PMID:22903357|PMID:22975760|PMID:23031807|PMID:23716950|PMID:23907647|PMID:24123366|PMID:24929125|PMID:25393764|PMID:25648235|PMID:25741868|PMID:25793047|PMID:25810876|PMID:26005881|PMID:26360812|PMID:26467025|PMID:26843738|PMID:27659338|PMID:27884173|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28678379|PMID:28927886|PMID:28943464|PMID:29080837|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30513227|PMID:30686512|PMID:30698071|PMID:30783801|PMID:31411330|PMID:31531243|PMID:31693653|PMID:31804137|PMID:32401353|PMID:32716837|PMID:32818295|PMID:32824452|PMID:32853466|PMID:33079202|PMID:33440462|PMID:33726481|PMID:33733382|PMID:33738724|PMID:34426522|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34918114|PMID:35061158|PMID:35098403|PMID:35156637|PMID:35190906|PMID:35358658|PMID:36703223|PMID:39003954|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:62	aortic valve disease		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aortic valve disorder	PMID:10090880|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26078663|PMID:26399837|PMID:26690517|PMID:27364639|PMID:28492532|PMID:29047407|PMID:29173686|PMID:29543225|PMID:29599418|PMID:30783801|PMID:30826945|PMID:31989427|PMID:32199921|PMID:32312770|PMID:32597225|PMID:32853466|PMID:33258288|PMID:33733382|PMID:34426522|PMID:35098403|PMID:35874679|PMID:37072232|PMID:39052144|PMID:39941383|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:630	genetic disease		ISO	RGD:737570	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10090880|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:14578331|PMID:14679589|PMID:15018633|PMID:15024744|PMID:16378925|PMID:16730661|PMID:17489852|PMID:18691160|PMID:19253030|PMID:19786432|PMID:19934083|PMID:20041150|PMID:20534143|PMID:20688806|PMID:21153919|PMID:21246368|PMID:21358337|PMID:21413889|PMID:21978701|PMID:22505824|PMID:22580583|PMID:22614345|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22934972|PMID:23463692|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24117178|PMID:24251727|PMID:24381109|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:25793047|PMID:26078663|PMID:26215181|PMID:26247045|PMID:26360812|PMID:26399837|PMID:26690517|PMID:27364639|PMID:28421071|PMID:28492532|PMID:29047407|PMID:29173686|PMID:29543225|PMID:29599418|PMID:30783801|PMID:30826945|PMID:31411330|PMID:31989427|PMID:32199921|PMID:32312770|PMID:32597225|PMID:32853466|PMID:33258288|PMID:33733382|PMID:34426522|PMID:35098403|PMID:35874679|PMID:37072232|PMID:39052144|PMID:39941383|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:630	genetic disease		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10090880|PMID:10364520|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10854115|PMID:10879615|PMID:10980540|PMID:11464238|PMID:11464248|PMID:11470495|PMID:11528510|PMID:11588211|PMID:11938447|PMID:11977178|PMID:12955725|PMID:14578331|PMID:14679589|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15458961|PMID:15643295|PMID:15717684|PMID:15805719|PMID:15942916|PMID:16378925|PMID:16439335|PMID:16439437|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16889173|PMID:17276496|PMID:17489852|PMID:17566872|PMID:18097735|PMID:18328141|PMID:18353061|PMID:18496034|PMID:18609258|PMID:18662100|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19863562|PMID:19929404|PMID:19934083|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20890251|PMID:21153919|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22261745|PMID:22505824|PMID:22532615|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22934972|PMID:22975760|PMID:23031807|PMID:23164758|PMID:23334425|PMID:23400211|PMID:23505242|PMID:23588594|PMID:23592051|PMID:23716950|PMID:23844200|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24082139|PMID:24123366|PMID:24251727|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24433404|PMID:24469716|PMID:24797171|PMID:24929125|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25615955|PMID:25648235|PMID:25741868|PMID:25793047|PMID:25810876|PMID:25866490|PMID:25959027|PMID:26005881|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26399837|PMID:26467025|PMID:26537665|PMID:26690517|PMID:26843738|PMID:27364639|PMID:27457448|PMID:27659338|PMID:27884173|PMID:27994174|PMID:28001092|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28678379|PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29173686|PMID:29314707|PMID:29393966|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:30171907|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30513227|PMID:30686512|PMID:30698071|PMID:30783801|PMID:30826945|PMID:30915208|PMID:31088470|PMID:31411330|PMID:31531243|PMID:31693653|PMID:31804137|PMID:31989427|PMID:32199921|PMID:32312770|PMID:32401353|PMID:32476680|PMID:32597225|PMID:32716837|PMID:32741030|PMID:32818295|PMID:32824452|PMID:32853466|PMID:33079202|PMID:33223529|PMID:33258288|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:34426522|PMID:34441808|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34918114|PMID:35061158|PMID:35096640|PMID:35098403|PMID:35156637|PMID:35178266|PMID:35190906|PMID:35358658|PMID:35490273|PMID:35780723|PMID:35874679|PMID:36583259|PMID:36703223|PMID:37072232|PMID:37481715|PMID:39003954|PMID:39052144|PMID:39143349|PMID:39941383|PMID:5458961|PMID:9288758|PMID:9668175|PMID:9715731|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:6543	acne		ISO	RGD:737570	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:784	chronic kidney disease		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:10090880|PMID:10737995|PMID:10854115|PMID:11464238|PMID:11588211|PMID:11938447|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15717684|PMID:15805719|PMID:16439437|PMID:16627024|PMID:18097735|PMID:18328141|PMID:18662100|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21358337|PMID:21598804|PMID:21995303|PMID:22261745|PMID:22532615|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29599418|PMID:30915208|PMID:32312770|PMID:32741030|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9668175
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:850	lung disease		ISO	RGD:737570	D	RGD:9068941	20200609	RGD		associated with Mediterranean fever	PMID:12746942|REF_RGD_ID:5129189
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:8553	pyoderma gangrenosum		ISO	RGD:737570	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:870	neuropathy		ISO	RGD:737570	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neuropathy	PMID:10090880|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26078663|PMID:26399837|PMID:26690517|PMID:27364639|PMID:28492532|PMID:29047407|PMID:29173686|PMID:29543225|PMID:29599418|PMID:30783801|PMID:30826945|PMID:31989427|PMID:32199921|PMID:32312770|PMID:32597225|PMID:32853466|PMID:33258288|PMID:33733382|PMID:34426522|PMID:35098403|PMID:35874679|PMID:37072232|PMID:39052144|PMID:39941383|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:10090880|PMID:10737995|PMID:10854115|PMID:11464238|PMID:11588211|PMID:11938447|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15717684|PMID:15805719|PMID:16439437|PMID:16627024|PMID:18097735|PMID:18328141|PMID:18662100|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21358337|PMID:21598804|PMID:21995303|PMID:22261745|PMID:22532615|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29599418|PMID:30915208|PMID:32312770|PMID:32741030|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9668175
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9000197	Edema		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Edema	PMID:10090880|PMID:10737992|PMID:14578331|PMID:15024744|PMID:16378925|PMID:16439335|PMID:16614989|PMID:16627024|PMID:16730661|PMID:17276496|PMID:17489852|PMID:17566872|PMID:18496034|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19777236|PMID:19786432|PMID:19863562|PMID:19934083|PMID:20008924|PMID:20041150|PMID:20165923|PMID:20177433|PMID:20534143|PMID:20645115|PMID:21246368|PMID:21413889|PMID:21598806|PMID:22019805|PMID:22614345|PMID:22661645|PMID:22903357|PMID:22975760|PMID:23031807|PMID:23716950|PMID:23907647|PMID:24123366|PMID:24929125|PMID:25393764|PMID:25648235|PMID:25741868|PMID:25793047|PMID:25810876|PMID:26005881|PMID:26360812|PMID:26467025|PMID:26843738|PMID:27659338|PMID:27884173|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28678379|PMID:28927886|PMID:28943464|PMID:29080837|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30513227|PMID:30686512|PMID:30698071|PMID:30783801|PMID:31411330|PMID:31531243|PMID:31693653|PMID:31804137|PMID:32401353|PMID:32716837|PMID:32818295|PMID:32824452|PMID:32853466|PMID:33079202|PMID:33440462|PMID:33726481|PMID:33733382|PMID:33738724|PMID:34426522|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34918114|PMID:35061158|PMID:35098403|PMID:35156637|PMID:35190906|PMID:35358658|PMID:36703223|PMID:39003954|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9000351	Diarrhea 9		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:10090880|PMID:10737995|PMID:10854115|PMID:11464238|PMID:11588211|PMID:11938447|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15717684|PMID:15805719|PMID:16439437|PMID:16627024|PMID:18097735|PMID:18328141|PMID:18662100|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21358337|PMID:21598804|PMID:21995303|PMID:22261745|PMID:22532615|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29599418|PMID:30915208|PMID:32312770|PMID:32741030|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9668175
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9000641	Pain		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pain	PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11470495|PMID:11528510|PMID:11938447|PMID:11977178|PMID:15643295|PMID:15942916|PMID:16627024|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:20301405|PMID:21290976|PMID:21600797|PMID:22037353|PMID:23031807|PMID:23164758|PMID:23334425|PMID:23907647|PMID:24318677|PMID:24369413|PMID:25741868|PMID:26215181|PMID:28492532|PMID:29393966|PMID:30171907|PMID:31088470|PMID:32476680|PMID:33223529|PMID:9288758|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9000727	Syncope		ISO	RGD:737570	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: fainting	PMID:10090880|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26078663|PMID:26399837|PMID:26690517|PMID:27364639|PMID:28492532|PMID:29047407|PMID:29173686|PMID:29543225|PMID:29599418|PMID:30783801|PMID:30826945|PMID:31989427|PMID:32199921|PMID:32312770|PMID:32597225|PMID:32853466|PMID:33258288|PMID:33733382|PMID:34426522|PMID:35098403|PMID:35874679|PMID:37072232|PMID:39052144|PMID:39941383|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:10090880|PMID:10737992|PMID:14578331|PMID:15024744|PMID:16378925|PMID:16439335|PMID:16614989|PMID:16627024|PMID:16730661|PMID:17276496|PMID:17489852|PMID:17566872|PMID:18496034|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19777236|PMID:19786432|PMID:19863562|PMID:19934083|PMID:20008924|PMID:20041150|PMID:20165923|PMID:20177433|PMID:20534143|PMID:20645115|PMID:21246368|PMID:21413889|PMID:21598806|PMID:22019805|PMID:22614345|PMID:22661645|PMID:22903357|PMID:22975760|PMID:23031807|PMID:23716950|PMID:23907647|PMID:24123366|PMID:24929125|PMID:25393764|PMID:25648235|PMID:25741868|PMID:25793047|PMID:25810876|PMID:26005881|PMID:26360812|PMID:26467025|PMID:26843738|PMID:27659338|PMID:27884173|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28678379|PMID:28927886|PMID:28943464|PMID:29080837|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30513227|PMID:30686512|PMID:30698071|PMID:30783801|PMID:31411330|PMID:31531243|PMID:31693653|PMID:31804137|PMID:32401353|PMID:32716837|PMID:32818295|PMID:32824452|PMID:32853466|PMID:33079202|PMID:33440462|PMID:33726481|PMID:33733382|PMID:33738724|PMID:34426522|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34918114|PMID:35061158|PMID:35098403|PMID:35156637|PMID:35190906|PMID:35358658|PMID:36703223|PMID:39003954|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9000972	Fever		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Episodic fever | ClinVar Annotator: match by term: Fever	PMID:10090880|PMID:10364520|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10854115|PMID:10879615|PMID:11464238|PMID:11464248|PMID:11470495|PMID:11528510|PMID:11588211|PMID:11938447|PMID:11977178|PMID:12955725|PMID:14578331|PMID:15024140|PMID:15024744|PMID:15458961|PMID:15643295|PMID:15717684|PMID:15805719|PMID:15942916|PMID:16378925|PMID:16439335|PMID:16439437|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16889173|PMID:17276496|PMID:17489852|PMID:17566872|PMID:18097735|PMID:18328141|PMID:18353061|PMID:18496034|PMID:18662100|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19777236|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19863562|PMID:19929404|PMID:19934083|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20890251|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22261745|PMID:22532615|PMID:22614345|PMID:22661645|PMID:22903357|PMID:22975760|PMID:23031807|PMID:23164758|PMID:23334425|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23716950|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24123366|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24433404|PMID:24797171|PMID:24929125|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25648235|PMID:25741868|PMID:25793047|PMID:25810876|PMID:25866490|PMID:25959027|PMID:26005881|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:26843738|PMID:27364639|PMID:27457448|PMID:27659338|PMID:27884173|PMID:27994174|PMID:28001092|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28678379|PMID:28927886|PMID:28943464|PMID:29080837|PMID:29314707|PMID:29393966|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:30171907|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30513227|PMID:30686512|PMID:30698071|PMID:30783801|PMID:30915208|PMID:31088470|PMID:31411330|PMID:31531243|PMID:31693653|PMID:31804137|PMID:32312770|PMID:32401353|PMID:32476680|PMID:32716837|PMID:32741030|PMID:32818295|PMID:32824452|PMID:32853466|PMID:33079202|PMID:33223529|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:34426522|PMID:34441808|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34918114|PMID:35061158|PMID:35096640|PMID:35098403|PMID:35156637|PMID:35178266|PMID:35190906|PMID:35358658|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39003954|PMID:39143349|PMID:5458961|PMID:9288758|PMID:9668175|PMID:9715731|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9001276	Failure to Thrive		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:10090880|PMID:10364520|PMID:10737995|PMID:10787449|PMID:10854115|PMID:10879615|PMID:11464238|PMID:11464248|PMID:11470495|PMID:11528510|PMID:11588211|PMID:11938447|PMID:11977178|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15643295|PMID:15717684|PMID:15805719|PMID:15942916|PMID:16439437|PMID:16627024|PMID:16785446|PMID:16889173|PMID:18097735|PMID:18328141|PMID:18353061|PMID:18662100|PMID:19790133|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20008920|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21290976|PMID:21358337|PMID:21598804|PMID:21600797|PMID:21995303|PMID:22037353|PMID:22261745|PMID:22532615|PMID:23031807|PMID:23164758|PMID:23334425|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29393966|PMID:29599418|PMID:30171907|PMID:30915208|PMID:31088470|PMID:32312770|PMID:32476680|PMID:32741030|PMID:33223529|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9288758|PMID:9668175|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9001733	Tinnitus		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:10090880|PMID:10737995|PMID:10854115|PMID:11464238|PMID:11588211|PMID:11938447|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15717684|PMID:15805719|PMID:16439437|PMID:16627024|PMID:18097735|PMID:18328141|PMID:18662100|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21358337|PMID:21598804|PMID:21995303|PMID:22261745|PMID:22532615|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29599418|PMID:30915208|PMID:32312770|PMID:32741030|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9668175
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9002682	Cardiovascular Abnormalities		ISO	RGD:737570	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology	PMID:10090880|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26078663|PMID:26399837|PMID:26690517|PMID:27364639|PMID:28492532|PMID:29047407|PMID:29173686|PMID:29543225|PMID:29599418|PMID:30783801|PMID:30826945|PMID:31989427|PMID:32199921|PMID:32312770|PMID:32597225|PMID:32853466|PMID:33258288|PMID:33733382|PMID:34426522|PMID:35098403|PMID:35874679|PMID:37072232|PMID:39052144|PMID:39941383|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:10090880|PMID:10364520|PMID:10737995|PMID:10787449|PMID:10854115|PMID:10879615|PMID:11464238|PMID:11464248|PMID:11470495|PMID:11528510|PMID:11588211|PMID:11938447|PMID:11977178|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15643295|PMID:15717684|PMID:15805719|PMID:15942916|PMID:16439437|PMID:16627024|PMID:16785446|PMID:16889173|PMID:18097735|PMID:18328141|PMID:18353061|PMID:18662100|PMID:19790133|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20008920|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21290976|PMID:21358337|PMID:21598804|PMID:21600797|PMID:21995303|PMID:22037353|PMID:22261745|PMID:22532615|PMID:23031807|PMID:23164758|PMID:23334425|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29393966|PMID:29599418|PMID:30171907|PMID:30915208|PMID:31088470|PMID:32312770|PMID:32476680|PMID:32741030|PMID:33223529|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9288758|PMID:9668175|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9003507	Premature Birth		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:10090880|PMID:10612841|PMID:10737995|PMID:10787450|PMID:10842288|PMID:10854115|PMID:11464238|PMID:11588211|PMID:11938447|PMID:11977178|PMID:12955725|PMID:15018633|PMID:15024140|PMID:15024744|PMID:15458961|PMID:15717684|PMID:15805719|PMID:16439437|PMID:16627024|PMID:16730661|PMID:17489852|PMID:18097735|PMID:18328141|PMID:18662100|PMID:19253030|PMID:19820229|PMID:19929404|PMID:19934083|PMID:19967574|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21153919|PMID:21246368|PMID:21358337|PMID:21413889|PMID:21598804|PMID:21978701|PMID:21995303|PMID:22261745|PMID:22532615|PMID:22614345|PMID:22903357|PMID:23400211|PMID:23505242|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24082139|PMID:24251727|PMID:24289199|PMID:24318677|PMID:24433404|PMID:24469716|PMID:24797171|PMID:24929125|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25615955|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26399837|PMID:26467025|PMID:26537665|PMID:26690517|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29047407|PMID:29080837|PMID:29173686|PMID:29314707|PMID:29543225|PMID:29599418|PMID:30783801|PMID:30826945|PMID:30915208|PMID:31989427|PMID:32199921|PMID:32312770|PMID:32597225|PMID:32741030|PMID:32853466|PMID:33258288|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33733382|PMID:34426522|PMID:34441808|PMID:35096640|PMID:35098403|PMID:35178266|PMID:35490273|PMID:35780723|PMID:35874679|PMID:36583259|PMID:36703223|PMID:37072232|PMID:37481715|PMID:39052144|PMID:39143349|PMID:39941383|PMID:5458961|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9003760	Myalgia		ISO	RGD:737570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:22995991|PMID:24117178|PMID:25741868|PMID:25760918|PMID:28421071|PMID:28492532|PMID:29178647|PMID:30476936|PMID:31411330|PMID:32082075|PMID:37298536|PMID:40252570|PMID:41335224
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9003816	Macrocephaly		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11470495|PMID:11528510|PMID:11938447|PMID:11977178|PMID:15643295|PMID:15942916|PMID:16627024|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:20301405|PMID:21290976|PMID:21600797|PMID:22037353|PMID:23031807|PMID:23164758|PMID:23334425|PMID:23907647|PMID:24318677|PMID:24369413|PMID:25741868|PMID:26215181|PMID:28492532|PMID:29393966|PMID:30171907|PMID:31088470|PMID:32476680|PMID:33223529|PMID:9288758|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:10090880|PMID:10737995|PMID:10854115|PMID:11464238|PMID:11588211|PMID:11938447|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15717684|PMID:15805719|PMID:16439437|PMID:16627024|PMID:18097735|PMID:18328141|PMID:18662100|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21358337|PMID:21598804|PMID:21995303|PMID:22261745|PMID:22532615|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29599418|PMID:30915208|PMID:32312770|PMID:32741030|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9668175
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9004108	Fused Kidney		ISO	RGD:737570	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	PMID:10090880|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26078663|PMID:26399837|PMID:26690517|PMID:27364639|PMID:28492532|PMID:29047407|PMID:29173686|PMID:29543225|PMID:29599418|PMID:30783801|PMID:30826945|PMID:31989427|PMID:32199921|PMID:32312770|PMID:32597225|PMID:32853466|PMID:33258288|PMID:33733382|PMID:34426522|PMID:35098403|PMID:35874679|PMID:37072232|PMID:39052144|PMID:39941383|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9005077	Joint Instability		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:10090880|PMID:10737995|PMID:10854115|PMID:11464238|PMID:11588211|PMID:11938447|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15717684|PMID:15805719|PMID:16439437|PMID:16627024|PMID:18097735|PMID:18328141|PMID:18662100|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21358337|PMID:21598804|PMID:21995303|PMID:22261745|PMID:22532615|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29599418|PMID:30915208|PMID:32312770|PMID:32741030|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9668175
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9005369	Hepatomegaly		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:10090880|PMID:10737995|PMID:10854115|PMID:11464238|PMID:11588211|PMID:11938447|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15717684|PMID:15805719|PMID:16439437|PMID:16627024|PMID:18097735|PMID:18328141|PMID:18662100|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21358337|PMID:21598804|PMID:21995303|PMID:22261745|PMID:22532615|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29599418|PMID:30915208|PMID:32312770|PMID:32741030|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9668175
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9005532	Muscle Weakness		ISO	RGD:737570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:22995991|PMID:24117178|PMID:25741868|PMID:25760918|PMID:28421071|PMID:28492532|PMID:29178647|PMID:30476936|PMID:31411330|PMID:32082075|PMID:37298536|PMID:40252570|PMID:41335224
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:10090880|PMID:10364520|PMID:10737995|PMID:10787449|PMID:10854115|PMID:10879615|PMID:11464238|PMID:11464248|PMID:11470495|PMID:11528510|PMID:11588211|PMID:11938447|PMID:11977178|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15643295|PMID:15717684|PMID:15805719|PMID:15942916|PMID:16439437|PMID:16627024|PMID:16785446|PMID:16889173|PMID:18097735|PMID:18328141|PMID:18353061|PMID:18662100|PMID:19790133|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20008920|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21290976|PMID:21358337|PMID:21598804|PMID:21600797|PMID:21995303|PMID:22037353|PMID:22261745|PMID:22532615|PMID:23031807|PMID:23164758|PMID:23334425|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29393966|PMID:29599418|PMID:30171907|PMID:30915208|PMID:31088470|PMID:32312770|PMID:32476680|PMID:32741030|PMID:33223529|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9288758|PMID:9668175|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9005734	Abdominal Pain		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:10090880|PMID:10364520|PMID:10737995|PMID:10787449|PMID:10854115|PMID:10879615|PMID:11464238|PMID:11464248|PMID:11470495|PMID:11528510|PMID:11588211|PMID:11938447|PMID:11977178|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15643295|PMID:15717684|PMID:15805719|PMID:15942916|PMID:16439437|PMID:16627024|PMID:16785446|PMID:16889173|PMID:18097735|PMID:18328141|PMID:18353061|PMID:18662100|PMID:19790133|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20008920|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21290976|PMID:21358337|PMID:21598804|PMID:21600797|PMID:21995303|PMID:22037353|PMID:22261745|PMID:22532615|PMID:23031807|PMID:23164758|PMID:23334425|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29393966|PMID:29599418|PMID:30171907|PMID:30915208|PMID:31088470|PMID:32312770|PMID:32476680|PMID:32741030|PMID:33223529|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9288758|PMID:9668175|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9006065	Arthralgia		ISO	RGD:737570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:22995991|PMID:24117178|PMID:25741868|PMID:25760918|PMID:28421071|PMID:28492532|PMID:29178647|PMID:30476936|PMID:31411330|PMID:32082075|PMID:37298536|PMID:40252570|PMID:41335224
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9006532	Hematologic Neoplasms	susceptibility	ISO	RGD:737570	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:p.M694V,E148Q,M680I(human)	PMID:20518828|REF_RGD_ID:11531118
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11470495|PMID:11528510|PMID:11938447|PMID:11977178|PMID:15643295|PMID:15942916|PMID:16627024|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:20301405|PMID:21290976|PMID:21600797|PMID:22037353|PMID:23031807|PMID:23164758|PMID:23334425|PMID:23907647|PMID:24318677|PMID:24369413|PMID:25741868|PMID:26215181|PMID:28492532|PMID:29393966|PMID:30171907|PMID:31088470|PMID:32476680|PMID:33223529|PMID:9288758|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9006875	Sutton Disease 2		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent aphthous stomatitis	PMID:10090880|PMID:10737995|PMID:10854115|PMID:11464238|PMID:11588211|PMID:11938447|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15717684|PMID:15805719|PMID:16439437|PMID:16627024|PMID:18097735|PMID:18328141|PMID:18662100|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21358337|PMID:21598804|PMID:21995303|PMID:22261745|PMID:22532615|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29599418|PMID:30915208|PMID:32312770|PMID:32741030|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9668175
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypoalbuminemia	PMID:10090880|PMID:10737992|PMID:14578331|PMID:15024744|PMID:16378925|PMID:16439335|PMID:16614989|PMID:16627024|PMID:16730661|PMID:17276496|PMID:17489852|PMID:17566872|PMID:18496034|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19777236|PMID:19786432|PMID:19863562|PMID:19934083|PMID:20008924|PMID:20041150|PMID:20165923|PMID:20177433|PMID:20534143|PMID:20645115|PMID:21246368|PMID:21413889|PMID:21598806|PMID:22019805|PMID:22614345|PMID:22661645|PMID:22903357|PMID:22975760|PMID:23031807|PMID:23716950|PMID:23907647|PMID:24123366|PMID:24929125|PMID:25393764|PMID:25648235|PMID:25741868|PMID:25793047|PMID:25810876|PMID:26005881|PMID:26360812|PMID:26467025|PMID:26843738|PMID:27659338|PMID:27884173|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28678379|PMID:28927886|PMID:28943464|PMID:29080837|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30513227|PMID:30686512|PMID:30698071|PMID:30783801|PMID:31411330|PMID:31531243|PMID:31693653|PMID:31804137|PMID:32401353|PMID:32716837|PMID:32818295|PMID:32824452|PMID:32853466|PMID:33079202|PMID:33440462|PMID:33726481|PMID:33733382|PMID:33738724|PMID:34426522|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34918114|PMID:35061158|PMID:35098403|PMID:35156637|PMID:35190906|PMID:35358658|PMID:36703223|PMID:39003954|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9007346	Cachexia		ISO	RGD:737570	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cachexia	PMID:10090880|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26078663|PMID:26399837|PMID:26690517|PMID:27364639|PMID:28492532|PMID:29047407|PMID:29173686|PMID:29543225|PMID:29599418|PMID:30783801|PMID:30826945|PMID:31989427|PMID:32199921|PMID:32312770|PMID:32597225|PMID:32853466|PMID:33258288|PMID:33733382|PMID:34426522|PMID:35098403|PMID:35874679|PMID:37072232|PMID:39052144|PMID:39941383|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9007619	Familial Mediterranean Fever, Autosomal Dominant		ISO	RGD:737570	D	RGD:7240710	20180130	OMIM			
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9007619	Familial Mediterranean Fever, Autosomal Dominant		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal dominant familial Mediterranean fever | ClinVar Annotator: match by term: FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: FMF, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Familial Mediterranean fever, autosomal dominant	PMID:10090880|PMID:10364520|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10854115|PMID:10879615|PMID:10980540|PMID:11242116|PMID:11464238|PMID:11464248|PMID:11470495|PMID:11528510|PMID:11588211|PMID:11938447|PMID:11977178|PMID:12955725|PMID:14578331|PMID:14679589|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15140375|PMID:15458961|PMID:15643295|PMID:15717684|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16378925|PMID:16439335|PMID:16439437|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16889173|PMID:17276496|PMID:17489852|PMID:17566872|PMID:17665427|PMID:17938136|PMID:18097735|PMID:18328141|PMID:18353061|PMID:18496034|PMID:18609258|PMID:18662100|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19479870|PMID:19531756|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19863562|PMID:19929404|PMID:19934083|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20890251|PMID:21153919|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22261745|PMID:22505824|PMID:22532615|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23010357|PMID:23031807|PMID:23164758|PMID:23334425|PMID:23400211|PMID:23505242|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23716950|PMID:23844200|PMID:23862117|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24158885|PMID:24251727|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24433404|PMID:24469716|PMID:24797171|PMID:24929125|PMID:24965843|PMID:25073670|PMID:25203624|PMID:25261100|PMID:25393764|PMID:25615955|PMID:25648235|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25810876|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26005881|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26399837|PMID:26467025|PMID:26537665|PMID:26620106|PMID:26690517|PMID:26843738|PMID:2703059|PMID:27332769|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27659338|PMID:27884173|PMID:27994174|PMID:28001092|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28678379|PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29159471|PMID:29173686|PMID:29178647|PMID:29314707|PMID:29393966|PMID:29526930|PMID:29543225|PMID:29579081|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30409984|PMID:30476289|PMID:30476936|PMID:30487145|PMID:30513227|PMID:30546872|PMID:30686512|PMID:30698071|PMID:30783801|PMID:30826945|PMID:30915208|PMID:31088470|PMID:31411330|PMID:31531243|PMID:31693653|PMID:31804137|PMID:31989427|PMID:32082075|PMID:32133669|PMID:32199921|PMID:32312770|PMID:32401353|PMID:32476680|PMID:32597225|PMID:32716837|PMID:32741030|PMID:32818295|PMID:32824452|PMID:32853466|PMID:32899315|PMID:33079202|PMID:33223529|PMID:33258288|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:34276053|PMID:34426522|PMID:34441808|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34918114|PMID:35061158|PMID:35096640|PMID:35098403|PMID:35156637|PMID:35178266|PMID:35190906|PMID:35358658|PMID:35490273|PMID:35780723|PMID:35874679|PMID:36583259|PMID:36703223|PMID:37072232|PMID:37206860|PMID:37298536|PMID:37481715|PMID:37496121|PMID:39003954|PMID:39042260|PMID:39052144|PMID:39143349|PMID:39387426|PMID:39581688|PMID:39941383|PMID:40252570|PMID:41335224|PMID:5458961|PMID:9288758|PMID:9668175|PMID:9715731|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9007661	Dwarfism		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10090880|PMID:10737995|PMID:10854115|PMID:11464238|PMID:11588211|PMID:11938447|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15717684|PMID:15805719|PMID:16439437|PMID:16627024|PMID:18097735|PMID:18328141|PMID:18662100|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21358337|PMID:21598804|PMID:21995303|PMID:22261745|PMID:22532615|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29599418|PMID:30915208|PMID:32312770|PMID:32741030|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9668175
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9007736	Vertigo		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:10090880|PMID:10737995|PMID:10854115|PMID:11464238|PMID:11588211|PMID:11938447|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15717684|PMID:15805719|PMID:16439437|PMID:16627024|PMID:18097735|PMID:18328141|PMID:18662100|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21358337|PMID:21598804|PMID:21995303|PMID:22261745|PMID:22532615|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29599418|PMID:30915208|PMID:32312770|PMID:32741030|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9668175
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9008	psoriatic arthritis		ISO	RGD:737570	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17408446
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11470495|PMID:11528510|PMID:11938447|PMID:11977178|PMID:15643295|PMID:15942916|PMID:16627024|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:20301405|PMID:21290976|PMID:21600797|PMID:22037353|PMID:23031807|PMID:23164758|PMID:23334425|PMID:23907647|PMID:24318677|PMID:24369413|PMID:25741868|PMID:26215181|PMID:28492532|PMID:29393966|PMID:30171907|PMID:31088470|PMID:32476680|PMID:33223529|PMID:9288758|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Systemic lupus erythematosus	PMID:10090880|PMID:10737995|PMID:10854115|PMID:11464238|PMID:11588211|PMID:11938447|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15717684|PMID:15805719|PMID:16439437|PMID:16627024|PMID:18097735|PMID:18328141|PMID:18662100|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21358337|PMID:21598804|PMID:21995303|PMID:22261745|PMID:22532615|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29599418|PMID:30915208|PMID:32312770|PMID:32741030|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9668175
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:737570	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:cds:p.M694V,E148Q(human)	PMID:22351163|REF_RGD_ID:11531114
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9120	amyloidosis		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Amyloidosis	PMID:10090880|PMID:10737992|PMID:14578331|PMID:15024744|PMID:16378925|PMID:16439335|PMID:16614989|PMID:16627024|PMID:16730661|PMID:17276496|PMID:17489852|PMID:17566872|PMID:18496034|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19777236|PMID:19786432|PMID:19863562|PMID:19934083|PMID:20008924|PMID:20041150|PMID:20165923|PMID:20177433|PMID:20534143|PMID:20645115|PMID:21246368|PMID:21413889|PMID:21598806|PMID:22019805|PMID:22614345|PMID:22661645|PMID:22903357|PMID:22975760|PMID:23031807|PMID:23716950|PMID:23907647|PMID:24123366|PMID:24929125|PMID:25393764|PMID:25648235|PMID:25741868|PMID:25793047|PMID:25810876|PMID:26005881|PMID:26360812|PMID:26467025|PMID:26843738|PMID:27659338|PMID:27884173|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28678379|PMID:28927886|PMID:28943464|PMID:29080837|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30513227|PMID:30686512|PMID:30698071|PMID:30783801|PMID:31411330|PMID:31531243|PMID:31693653|PMID:31804137|PMID:32401353|PMID:32716837|PMID:32818295|PMID:32824452|PMID:32853466|PMID:33079202|PMID:33440462|PMID:33726481|PMID:33733382|PMID:33738724|PMID:34426522|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34918114|PMID:35061158|PMID:35098403|PMID:35156637|PMID:35190906|PMID:35358658|PMID:36703223|PMID:39003954|PMID:9668175|PMID:9715731
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10090880|PMID:10737995|PMID:10854115|PMID:11464238|PMID:11588211|PMID:11938447|PMID:12955725|PMID:15024140|PMID:15458961|PMID:15717684|PMID:15805719|PMID:16439437|PMID:16627024|PMID:18097735|PMID:18328141|PMID:18662100|PMID:19820229|PMID:19929404|PMID:19967574|PMID:20041150|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20602240|PMID:20669279|PMID:20890251|PMID:21358337|PMID:21598804|PMID:21995303|PMID:22261745|PMID:22532615|PMID:23400211|PMID:23588594|PMID:23592051|PMID:23844200|PMID:23907647|PMID:23973724|PMID:24082139|PMID:24289199|PMID:24318677|PMID:24433404|PMID:24797171|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25741868|PMID:25866490|PMID:25959027|PMID:26131005|PMID:26215181|PMID:26360812|PMID:26467025|PMID:26537665|PMID:27364639|PMID:27457448|PMID:27994174|PMID:28001092|PMID:28492532|PMID:28573371|PMID:28927886|PMID:29080837|PMID:29314707|PMID:29599418|PMID:30915208|PMID:32312770|PMID:32741030|PMID:33497256|PMID:33560333|PMID:33715276|PMID:34441808|PMID:35096640|PMID:35178266|PMID:35490273|PMID:35780723|PMID:36583259|PMID:36703223|PMID:37481715|PMID:39143349|PMID:5458961|PMID:9668175
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:936	brain disease		ISO	RGD:737570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11470495|PMID:11528510|PMID:11938447|PMID:11977178|PMID:15643295|PMID:15942916|PMID:16627024|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:20301405|PMID:21290976|PMID:21600797|PMID:22037353|PMID:23031807|PMID:23164758|PMID:23334425|PMID:23907647|PMID:24318677|PMID:24369413|PMID:25741868|PMID:26215181|PMID:28492532|PMID:29393966|PMID:30171907|PMID:31088470|PMID:32476680|PMID:33223529|PMID:9288758|PMID:9781020
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9538	multiple myeloma	susceptibility	ISO	RGD:737570	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:cds:p.E148Q,M694V(human)	PMID:25202401|REF_RGD_ID:11531123
8770821	Mefv	MEFV innate immunity regulator, pyrin	gene	DOID:9952	acute lymphoblastic leukemia	susceptibility	ISO	RGD:737570	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:cds:p.E148Q,M680I(human)	PMID:22942567|REF_RGD_ID:11531121
8770844	Tpra1	transmembrane protein adipocyte associated 1	gene	DOID:10534	stomach cancer		ISO	RGD:1354338	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8770844	Tpra1	transmembrane protein adipocyte associated 1	gene	DOID:1324	lung cancer		ISO	RGD:1354338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8770844	Tpra1	transmembrane protein adipocyte associated 1	gene	DOID:1909	melanoma		ISO	RGD:1354338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8770844	Tpra1	transmembrane protein adipocyte associated 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1354338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8770844	Tpra1	transmembrane protein adipocyte associated 1	gene	DOID:4362	cervical cancer		ISO	RGD:1354338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8770844	Tpra1	transmembrane protein adipocyte associated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8770844	Tpra1	transmembrane protein adipocyte associated 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8770844	Tpra1	transmembrane protein adipocyte associated 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8770844	Tpra1	transmembrane protein adipocyte associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770844	Tpra1	transmembrane protein adipocyte associated 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1354338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8770866	Armc12	armadillo repeat containing 12	gene	DOID:0070589	spermatogenic failure 90		ISO	RGD:1314376	D	RGD:7240710	20240320	OMIM			
8770866	Armc12	armadillo repeat containing 12	gene	DOID:0070589	spermatogenic failure 90		ISO	RGD:1314376	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 90	
8770866	Armc12	armadillo repeat containing 12	gene	DOID:10283	prostate cancer		ISO	RGD:1314376	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8770866	Armc12	armadillo repeat containing 12	gene	DOID:10283	prostate cancer		ISO	RGD:1314376	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8770866	Armc12	armadillo repeat containing 12	gene	DOID:10534	stomach cancer		ISO	RGD:1314376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8770866	Armc12	armadillo repeat containing 12	gene	DOID:1909	melanoma		ISO	RGD:1314376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8770878	Bpifa1	BPI fold containing family A member 1	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:736029	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15513904
8770878	Bpifa1	BPI fold containing family A member 1	gene	DOID:10754	otitis media		ISO	RGD:736030	D	RGD:9068941	20220825	MouseDO		OMIM:166760	
8770878	Bpifa1	BPI fold containing family A member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8770878	Bpifa1	BPI fold containing family A member 1	gene	DOID:1115	sarcoma		ISO	RGD:736029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8770878	Bpifa1	BPI fold containing family A member 1	gene	DOID:9005372	Inflammation		IMP		D	RGD:11554178|PMID:20949060	20161020	RGD			
8770878	Bpifa1	BPI fold containing family A member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8770891	Ak9	adenylate kinase 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8770891	Ak9	adenylate kinase 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8770891	Ak9	adenylate kinase 9	gene	DOID:0070588	spermatogenic failure 89		ISO	RGD:1354002	D	RGD:7240710	20240214	OMIM			
8770891	Ak9	adenylate kinase 9	gene	DOID:0070588	spermatogenic failure 89		ISO	RGD:1354002	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 89 | ClinVar Annotator: match by term: Spermatogenic failure 89	PMID:25741868
8770891	Ak9	adenylate kinase 9	gene	DOID:10534	stomach cancer		ISO	RGD:1354002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8770891	Ak9	adenylate kinase 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8770891	Ak9	adenylate kinase 9	gene	DOID:1572	normal pressure hydrocephalus		ISO	RGD:2301662	D	RGD:9068941	20240314	MouseDO		OMIM:236690	
8770891	Ak9	adenylate kinase 9	gene	DOID:1909	melanoma		ISO	RGD:1354002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8770891	Ak9	adenylate kinase 9	gene	DOID:4362	cervical cancer		ISO	RGD:1354002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8770891	Ak9	adenylate kinase 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8770891	Ak9	adenylate kinase 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1354002	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8770891	Ak9	adenylate kinase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8770891	Ak9	adenylate kinase 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8770891	Ak9	adenylate kinase 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770891	Ak9	adenylate kinase 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8770946	Psme4	proteasome activator subunit 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8770946	Psme4	proteasome activator subunit 4	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1557625	D	RGD:9068941	20220825	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
8770946	Psme4	proteasome activator subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8770946	Psme4	proteasome activator subunit 4	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1345096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
8770946	Psme4	proteasome activator subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1345096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8770946	Psme4	proteasome activator subunit 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8770946	Psme4	proteasome activator subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1345096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8770946	Psme4	proteasome activator subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1345096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8770946	Psme4	proteasome activator subunit 4	gene	DOID:1909	melanoma		ISO	RGD:1345096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8770946	Psme4	proteasome activator subunit 4	gene	DOID:3275	thymoma		ISO	RGD:1345096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8770946	Psme4	proteasome activator subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1345096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8770946	Psme4	proteasome activator subunit 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8770946	Psme4	proteasome activator subunit 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8770946	Psme4	proteasome activator subunit 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1345096	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8770946	Psme4	proteasome activator subunit 4	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1345096	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8770946	Psme4	proteasome activator subunit 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1345096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8770946	Psme4	proteasome activator subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8770946	Psme4	proteasome activator subunit 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8770946	Psme4	proteasome activator subunit 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770946	Psme4	proteasome activator subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8770946	Psme4	proteasome activator subunit 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8770946	Psme4	proteasome activator subunit 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1345096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8770997	Nav2	neuron navigator 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8770997	Nav2	neuron navigator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8770997	Nav2	neuron navigator 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1320655	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
8770997	Nav2	neuron navigator 2	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868
8770997	Nav2	neuron navigator 2	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1320655	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	
8770997	Nav2	neuron navigator 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8770997	Nav2	neuron navigator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8770997	Nav2	neuron navigator 2	gene	DOID:1115	sarcoma		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8770997	Nav2	neuron navigator 2	gene	DOID:11714	gestational diabetes		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:25741868
8770997	Nav2	neuron navigator 2	gene	DOID:12215	oligohydramnios		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
8770997	Nav2	neuron navigator 2	gene	DOID:1324	lung cancer		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8770997	Nav2	neuron navigator 2	gene	DOID:13620	patent foramen ovale		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type	PMID:25741868
8770997	Nav2	neuron navigator 2	gene	DOID:1909	melanoma		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8770997	Nav2	neuron navigator 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8770997	Nav2	neuron navigator 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8770997	Nav2	neuron navigator 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8770997	Nav2	neuron navigator 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8770997	Nav2	neuron navigator 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320655	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8770997	Nav2	neuron navigator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8770997	Nav2	neuron navigator 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8770997	Nav2	neuron navigator 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8770997	Nav2	neuron navigator 2	gene	DOID:9000006	Supraventricular Tachycardia		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Supraventricular tachycardia	PMID:25741868
8770997	Nav2	neuron navigator 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8770997	Nav2	neuron navigator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8770997	Nav2	neuron navigator 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8770997	Nav2	neuron navigator 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1320655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8771046	Gnai3	G protein subunit alpha i3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8771046	Gnai3	G protein subunit alpha i3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8771046	Gnai3	G protein subunit alpha i3	gene	DOID:10763	hypertension	treatment	ISO	RGD:2714	D	RGD:9068941	20200609	RGD			PMID:15106810|REF_RGD_ID:13508592
8771046	Gnai3	G protein subunit alpha i3	gene	DOID:10914	amnestic disorder		ISO	RGD:731003	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11350863
8771046	Gnai3	G protein subunit alpha i3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8771046	Gnai3	G protein subunit alpha i3	gene	DOID:1115	sarcoma		ISO	RGD:731003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8771046	Gnai3	G protein subunit alpha i3	gene	DOID:1324	lung cancer		ISO	RGD:731003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8771046	Gnai3	G protein subunit alpha i3	gene	DOID:1909	melanoma		ISO	RGD:731003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8771046	Gnai3	G protein subunit alpha i3	gene	DOID:4362	cervical cancer		ISO	RGD:731003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8771046	Gnai3	G protein subunit alpha i3	gene	DOID:5041	esophageal cancer		ISO	RGD:731003	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8771046	Gnai3	G protein subunit alpha i3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771046	Gnai3	G protein subunit alpha i3	gene	DOID:630	genetic disease		ISO	RGD:731003	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8771046	Gnai3	G protein subunit alpha i3	gene	DOID:9000208	Auriculocondylar Syndrome		ISO	RGD:731003	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8771046	Gnai3	G protein subunit alpha i3	gene	DOID:9002492	Auriculocondylar Syndrome 1		ISO	RGD:731003	D	RGD:7240710	20180130	OMIM			
8771046	Gnai3	G protein subunit alpha i3	gene	DOID:9002492	Auriculocondylar Syndrome 1		ISO	RGD:731003	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AURICULOCONDYLAR SYNDROME 1 | ClinVar Annotator: match by term: Auriculocondylar syndrome 1 | ClinVar Annotator: match by term: GNAI3-related condition	PMID:22560091|PMID:23315542|PMID:25026904|PMID:25741868|PMID:28492532|PMID:38177409
8771046	Gnai3	G protein subunit alpha i3	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2714	D	RGD:9068941	20200609	RGD			PMID:11367746|REF_RGD_ID:13513922
8771046	Gnai3	G protein subunit alpha i3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8771046	Gnai3	G protein subunit alpha i3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8771059	Agtrap	angiotensin II receptor associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8771059	Agtrap	angiotensin II receptor associated protein	gene	DOID:0060158	acquired metabolic disease		ISO	RGD:1552153	D	RGD:9068941	20220825	MouseDO			
8771059	Agtrap	angiotensin II receptor associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1350151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8771059	Agtrap	angiotensin II receptor associated protein	gene	DOID:10763	hypertension		ISO	RGD:1359346	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:18725581|REF_RGD_ID:2314351
8771059	Agtrap	angiotensin II receptor associated protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8771059	Agtrap	angiotensin II receptor associated protein	gene	DOID:1909	melanoma		ISO	RGD:1350151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8771059	Agtrap	angiotensin II receptor associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771059	Agtrap	angiotensin II receptor associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8771059	Agtrap	angiotensin II receptor associated protein	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1359346	D	RGD:9068941	20200609	RGD			PMID:18725581|REF_RGD_ID:2314351
8771059	Agtrap	angiotensin II receptor associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8771059	Agtrap	angiotensin II receptor associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:1312725	D	RGD:9068941	20220303	RGD		DNA:SNP:3'utr: (rs7963551) (human)	PMID:26629180|REF_RGD_ID:151660337
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:0060058	lymphoma		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:0110673	congenital myasthenic syndrome 19		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 19	PMID:25741868
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:10155	intestinal cancer	disease_progression	ISO	RGD:10166	D	RGD:9068941	20220225	RGD			PMID:27984746|REF_RGD_ID:151361160
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:1115	sarcoma		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:1324	lung cancer		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1312725	D	RGD:9068941	20220304	RGD		DNA:SNP,haplotype:	PMID:18449888|REF_RGD_ID:151660351
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1312725	D	RGD:9068941	20220310	RGD		DNA:SNP: (rs4766394) (human)	PMID:22382497|REF_RGD_ID:151660503
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1312725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26013599
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:1909	melanoma		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:219	colon cancer	susceptibility	ISO	RGD:1312725	D	RGD:9068941	20220303	RGD		DNA:SNPs:3'utr: (rs1051669, rs11571475) (human)	PMID:26735576|REF_RGD_ID:151361212
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:3907	lung squamous cell carcinoma	ameliorates	ISO	RGD:1312726	D	RGD:9068941	20220303	RGD			PMID:28415565|REF_RGD_ID:151660334
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:3907	lung squamous cell carcinoma	susceptibility	ISO	RGD:1312725	D	RGD:9068941	20220303	RGD		DNA:SNP: (rs6489769) (human)	PMID:22585858|REF_RGD_ID:151660345
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:1312725	D	RGD:9068941	20220310	RGD		DNA:SNPs,haplotype:multiple	PMID:32401173|REF_RGD_ID:151660355
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal cortex carcinoma	
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:4851	pilocytic astrocytoma		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pilocytic astrocytoma	PMID:25741868
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:5409	lung small cell carcinoma	susceptibility	ISO	RGD:1312725	D	RGD:9068941	20220303	RGD		DNA:SNP:3'utr: (rs7963551) (human)	PMID:26629180|REF_RGD_ID:151660337
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:5409	lung small cell carcinoma	treatment	ISO	RGD:1312725	D	RGD:9068941	20220303	RGD		DNA:SNP: (rs10774474)(human)	PMID:27531263|REF_RGD_ID:151660339
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:684	hepatocellular carcinoma	onset	ISO	RGD:1312725	D	RGD:9068941	20220303	RGD		mRNA,protein:increased expression:liver (human)	PMID:31719794|REF_RGD_ID:151361207
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1312725	D	RGD:9068941	20220303	RGD		associated with hepatitis B;DNA:SNP:3'utr: (rs7963551) (human)	PMID:24729511|REF_RGD_ID:151361199
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:9000965	Neoplasm Metastasis	susceptibility	ISO	RGD:1312725	D	RGD:9068941	20220225	RGD		associated with colorectal cancer; DNA:SNP:3'utr: (rs7963551) (human)	PMID:29245274|REF_RGD_ID:151361161
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1312725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26013599
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:9256	colorectal cancer	onset	ISO	RGD:1312725	D	RGD:9068941	20220225	RGD		DNA:SNP,haplotypes:3'utr: (rs1051669) (human)	PMID:29245274|REF_RGD_ID:151361161
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1312725	D	RGD:9068941	20220303	RGD		DNA:SNPs:3'utr: (rs7963551, rs11226) (human)	PMID:26735576|REF_RGD_ID:151361212
8771073	Rad52	RAD52 DNA repair protein	gene	DOID:9261	nasopharynx carcinoma	severity	ISO	RGD:1312725	D	RGD:9068941	20220303	RGD		protein:increased expression:nasopharynx (human)	PMID:25026830|REF_RGD_ID:151361208
8771102	Dtd2	D-aminoacyl-tRNA deacylase 2	gene	DOID:1115	sarcoma		ISO	RGD:1319312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8771120	CUNH18orf32	chromosome unknown C18orf32 homolog	gene	DOID:9003554	Glycosylphosphatidylinositol Biosynthesis Defect 25		ISO	RGD:1626573	D	RGD:7240710	20220810	OMIM			
8771145	Ccdc150	coiled-coil domain containing 150	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8771145	Ccdc150	coiled-coil domain containing 150	gene	DOID:1115	sarcoma		ISO	RGD:1606406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8771145	Ccdc150	coiled-coil domain containing 150	gene	DOID:1324	lung cancer		ISO	RGD:1606406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8771145	Ccdc150	coiled-coil domain containing 150	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8771145	Ccdc150	coiled-coil domain containing 150	gene	DOID:4362	cervical cancer		ISO	RGD:1606406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8771145	Ccdc150	coiled-coil domain containing 150	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771145	Ccdc150	coiled-coil domain containing 150	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8771190	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8771190	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8771190	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:10534	stomach cancer		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8771190	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8771190	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:1115	sarcoma		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8771190	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:1324	lung cancer		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8771190	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8771190	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:1909	melanoma		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8771190	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:3275	thymoma		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8771190	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:4362	cervical cancer		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8771190	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8771190	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771190	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8771190	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8771190	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8771190	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8771225	Dcstamp	dendrocyte expressed seven transmembrane protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8771225	Dcstamp	dendrocyte expressed seven transmembrane protein	gene	DOID:289	endometriosis		ISO	RGD:1321334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
8771225	Dcstamp	dendrocyte expressed seven transmembrane protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8771225	Dcstamp	dendrocyte expressed seven transmembrane protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8771225	Dcstamp	dendrocyte expressed seven transmembrane protein	gene	DOID:5408	Paget disease of bone		ISO	RGD:1321334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21623375
8771225	Dcstamp	dendrocyte expressed seven transmembrane protein	gene	DOID:670	amphetamine abuse		ISO	RGD:1321334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
8771225	Dcstamp	dendrocyte expressed seven transmembrane protein	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1321334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
8771225	Dcstamp	dendrocyte expressed seven transmembrane protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8771225	Dcstamp	dendrocyte expressed seven transmembrane protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1321334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
8771244	Tbc1d20	TBC1 domain family member 20	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8771244	Tbc1d20	TBC1 domain family member 20	gene	DOID:0060237	Warburg micro syndrome		ISO	RGD:1346411	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8771244	Tbc1d20	TBC1 domain family member 20	gene	DOID:0110719	Warburg micro syndrome 4		ISO	RGD:1346411	D	RGD:7240710	20180130	OMIM			
8771244	Tbc1d20	TBC1 domain family member 20	gene	DOID:0110719	Warburg micro syndrome 4		ISO	RGD:1346411	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TBC1D20-related condition | ClinVar Annotator: match by term: WARBURG MICRO SYNDROME 4 | ClinVar Annotator: match by term: Warburg micro syndrome 4	PMID:25741868|PMID:28492532
8771244	Tbc1d20	TBC1 domain family member 20	gene	DOID:1909	melanoma		ISO	RGD:1346411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8771244	Tbc1d20	TBC1 domain family member 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771244	Tbc1d20	TBC1 domain family member 20	gene	DOID:630	genetic disease		ISO	RGD:1346411	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8771272	Ackr3	atypical chemokine receptor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8771272	Ackr3	atypical chemokine receptor 3	gene	DOID:2378	relapsing-remitting multiple sclerosis		ISO	RGD:1343702	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34624384
8771272	Ackr3	atypical chemokine receptor 3	gene	DOID:2600	laryngeal carcinoma	disease_progression	ISO	RGD:1343702	D	RGD:9068941	20220506	RGD		protein:increased expression:larynx (human)	PMID:16494043|REF_RGD_ID:152025548
8771272	Ackr3	atypical chemokine receptor 3	gene	DOID:2843	long QT syndrome		ISO	RGD:1343702	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	PMID:25741868
8771272	Ackr3	atypical chemokine receptor 3	gene	DOID:305	carcinoma		ISO	RGD:1343702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22180778
8771272	Ackr3	atypical chemokine receptor 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343702	D	RGD:9068941	20230128	RGD		mRNA:increased expression:kidney:	PMID:29218250|REF_RGD_ID:155804290
8771272	Ackr3	atypical chemokine receptor 3	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1343702	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
8771272	Ackr3	atypical chemokine receptor 3	gene	DOID:557	kidney disease		ISO	RGD:1343702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22880115
8771272	Ackr3	atypical chemokine receptor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771272	Ackr3	atypical chemokine receptor 3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1343702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19192274
8771272	Ackr3	atypical chemokine receptor 3	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1343702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22180778
8771272	Ackr3	atypical chemokine receptor 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1343702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8771272	Ackr3	atypical chemokine receptor 3	gene	DOID:9002297	OCULOMOTOR-ABDUCENS SYNKINESIS		ISO	RGD:1343702	D	RGD:7240710	20210414	OMIM			
8771272	Ackr3	atypical chemokine receptor 3	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1343702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22180778
8771298	Syngr1	synaptogyrin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8771298	Syngr1	synaptogyrin 1	gene	DOID:10283	prostate cancer		ISO	RGD:736639	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8771298	Syngr1	synaptogyrin 1	gene	DOID:10283	prostate cancer		ISO	RGD:736639	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8771298	Syngr1	synaptogyrin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8771298	Syngr1	synaptogyrin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736639	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8771298	Syngr1	synaptogyrin 1	gene	DOID:5419	schizophrenia		ISO	RGD:736639	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:25741868
8771298	Syngr1	synaptogyrin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771298	Syngr1	synaptogyrin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8771298	Syngr1	synaptogyrin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8771298	Syngr1	synaptogyrin 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:736639	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26808113
8771298	Syngr1	synaptogyrin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736639	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
8771339	Tnfaip2	TNF alpha induced protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8771339	Tnfaip2	TNF alpha induced protein 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1312235	D	RGD:9068941	20231221	MouseDO			
8771339	Tnfaip2	TNF alpha induced protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1312234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8771339	Tnfaip2	TNF alpha induced protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8771339	Tnfaip2	TNF alpha induced protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8771339	Tnfaip2	TNF alpha induced protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8771339	Tnfaip2	TNF alpha induced protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312234	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8771339	Tnfaip2	TNF alpha induced protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771339	Tnfaip2	TNF alpha induced protein 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1312234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19192274
8771339	Tnfaip2	TNF alpha induced protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8771359	Zfp42	ZFP42 zinc finger protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8771359	Zfp42	ZFP42 zinc finger protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8771359	Zfp42	ZFP42 zinc finger protein	gene	DOID:1324	lung cancer		ISO	RGD:1606971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8771359	Zfp42	ZFP42 zinc finger protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771363	Stmn3	stathmin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:69018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8771363	Stmn3	stathmin 3	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:69018	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
8771363	Stmn3	stathmin 3	gene	DOID:4362	cervical cancer		ISO	RGD:69018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8771363	Stmn3	stathmin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8771372	Ndufaf1	NADH:ubiquinone oxidoreductase complex assembly factor 1	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1314685	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency	PMID:25741868|PMID:28492532
8771372	Ndufaf1	NADH:ubiquinone oxidoreductase complex assembly factor 1	gene	DOID:0080600	COVID-19		ISO	RGD:1314685	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8771372	Ndufaf1	NADH:ubiquinone oxidoreductase complex assembly factor 1	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1314685	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:25741868|PMID:28492532
8771372	Ndufaf1	NADH:ubiquinone oxidoreductase complex assembly factor 1	gene	DOID:0112089	nuclear type mitochondrial complex I deficiency 11		ISO	RGD:1314685	D	RGD:7240710	20190315	OMIM			
8771372	Ndufaf1	NADH:ubiquinone oxidoreductase complex assembly factor 1	gene	DOID:0112089	nuclear type mitochondrial complex I deficiency 11		ISO	RGD:1314685	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 11 | ClinVar Annotator: match by term: NDUFAF1-related condition	PMID:17557076|PMID:21931170|PMID:25741868|PMID:28492532
8771372	Ndufaf1	NADH:ubiquinone oxidoreductase complex assembly factor 1	gene	DOID:1909	melanoma		ISO	RGD:1314685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8771372	Ndufaf1	NADH:ubiquinone oxidoreductase complex assembly factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8771385	Cenpl	centromere protein L	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8771385	Cenpl	centromere protein L	gene	DOID:1324	lung cancer		ISO	RGD:1605310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8771385	Cenpl	centromere protein L	gene	DOID:1909	melanoma		ISO	RGD:1605310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8771385	Cenpl	centromere protein L	gene	DOID:4362	cervical cancer		ISO	RGD:1605310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8771385	Cenpl	centromere protein L	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771385	Cenpl	centromere protein L	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8771385	Cenpl	centromere protein L	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8771395	Frmd8	FERM domain containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8771395	Frmd8	FERM domain containing 8	gene	DOID:10534	stomach cancer		ISO	RGD:1602672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8771395	Frmd8	FERM domain containing 8	gene	DOID:1115	sarcoma		ISO	RGD:1602672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8771395	Frmd8	FERM domain containing 8	gene	DOID:1324	lung cancer		ISO	RGD:1602672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8771395	Frmd8	FERM domain containing 8	gene	DOID:4362	cervical cancer		ISO	RGD:1602672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8771395	Frmd8	FERM domain containing 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1602672	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8771395	Frmd8	FERM domain containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771395	Frmd8	FERM domain containing 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8771395	Frmd8	FERM domain containing 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8771395	Frmd8	FERM domain containing 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8771395	Frmd8	FERM domain containing 8	gene	DOID:9256	colorectal cancer		ISO	RGD:1602672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8771443	Vxn	vexin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771443	Vxn	vexin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8771462	Tasl	TLR adaptor interacting with endolysosomal SLC15A4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8771462	Tasl	TLR adaptor interacting with endolysosomal SLC15A4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8771470	Tkfc	triokinase and FMN cyclase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8771470	Tkfc	triokinase and FMN cyclase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8771470	Tkfc	triokinase and FMN cyclase	gene	DOID:0080132	Sengers syndrome		ISO	RGD:1607064	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Sengers syndrome	PMID:25741868
8771470	Tkfc	triokinase and FMN cyclase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8771470	Tkfc	triokinase and FMN cyclase	gene	DOID:1115	sarcoma		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8771470	Tkfc	triokinase and FMN cyclase	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1607064	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
8771470	Tkfc	triokinase and FMN cyclase	gene	DOID:1324	lung cancer		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8771470	Tkfc	triokinase and FMN cyclase	gene	DOID:3275	thymoma		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8771470	Tkfc	triokinase and FMN cyclase	gene	DOID:5041	esophageal cancer		ISO	RGD:1607064	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8771470	Tkfc	triokinase and FMN cyclase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771470	Tkfc	triokinase and FMN cyclase	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1607064	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn errors of metabolism	PMID:25741868
8771470	Tkfc	triokinase and FMN cyclase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8771470	Tkfc	triokinase and FMN cyclase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1607064	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8771470	Tkfc	triokinase and FMN cyclase	gene	DOID:9001881	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME		ISO	RGD:1607064	D	RGD:7240710	20211103	OMIM			
8771470	Tkfc	triokinase and FMN cyclase	gene	DOID:9001881	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME		ISO	RGD:1607064	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Triokinase and FMN cyclase deficiency syndrome	PMID:25741868
8771470	Tkfc	triokinase and FMN cyclase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8771470	Tkfc	triokinase and FMN cyclase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1607064	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8771470	Tkfc	triokinase and FMN cyclase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8771470	Tkfc	triokinase and FMN cyclase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8771502	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8771502	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8771502	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8771502	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:1115	sarcoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8771502	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8771502	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8771502	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8771502	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8771502	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771502	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8771502	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8771502	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8771502	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8771502	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8771502	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8771502	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8771540	Rfx3	regulatory factor X3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8771540	Rfx3	regulatory factor X3	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1317169	D	RGD:9068941	20220825	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
8771540	Rfx3	regulatory factor X3	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868|PMID:33658631
8771540	Rfx3	regulatory factor X3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1317168	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8771540	Rfx3	regulatory factor X3	gene	DOID:10534	stomach cancer		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8771540	Rfx3	regulatory factor X3	gene	DOID:1059	intellectual disability		ISO	RGD:1317168	D	RGD:8554872	20250603	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: RFX3-related intellectual disability	PMID:25741868
8771540	Rfx3	regulatory factor X3	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1317168	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8771540	Rfx3	regulatory factor X3	gene	DOID:1115	sarcoma		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8771540	Rfx3	regulatory factor X3	gene	DOID:1909	melanoma		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8771540	Rfx3	regulatory factor X3	gene	DOID:3275	thymoma		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8771540	Rfx3	regulatory factor X3	gene	DOID:37	skin disease		ISO	RGD:1317168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8771540	Rfx3	regulatory factor X3	gene	DOID:4362	cervical cancer		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8771540	Rfx3	regulatory factor X3	gene	DOID:5041	esophageal cancer		ISO	RGD:1317168	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8771540	Rfx3	regulatory factor X3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771540	Rfx3	regulatory factor X3	gene	DOID:630	genetic disease		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8771540	Rfx3	regulatory factor X3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317168	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28831199|PMID:33658631
8771540	Rfx3	regulatory factor X3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:33658631
8771540	Rfx3	regulatory factor X3	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1317168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8771540	Rfx3	regulatory factor X3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:33658631
8771540	Rfx3	regulatory factor X3	gene	DOID:9008582	Developmental Disease		ISO	RGD:1317168	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8771540	Rfx3	regulatory factor X3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8771587	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1322350	D	RGD:9068941	20200609	RGD			PMID:26984774|REF_RGD_ID:14700648
8771587	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8771587	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:0111627	DOORS syndrome		ISO	RGD:1322350	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: DOORS syndrome	PMID:25741868
8771587	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:10534	stomach cancer		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8771587	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:1115	sarcoma		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8771587	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:1324	lung cancer		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8771587	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:1909	melanoma		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8771587	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:2394	ovarian cancer		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8771587	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:3275	thymoma		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8771587	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:4362	cervical cancer		ISO	RGD:1322350	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8771587	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:5517	stomach carcinoma		ISO	RGD:1322350	D	RGD:9068941	20200609	RGD			PMID:23722107|REF_RGD_ID:14700649
8771587	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8771587	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:6039	uveal melanoma		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8771587	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8771587	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8771587	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1322351	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Experimental	PMID:24155661|REF_RGD_ID:14700647
8771587	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8771587	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8771607	Pgam1	phosphoglycerate mutase 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:737211	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
8771607	Pgam1	phosphoglycerate mutase 1	gene	DOID:299	adenocarcinoma		ISO	RGD:737211	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
8771607	Pgam1	phosphoglycerate mutase 1	gene	DOID:305	carcinoma		ISO	RGD:737211	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8771607	Pgam1	phosphoglycerate mutase 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:737211	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17094902
8771607	Pgam1	phosphoglycerate mutase 1	gene	DOID:4362	cervical cancer		ISO	RGD:737211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8771607	Pgam1	phosphoglycerate mutase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8771607	Pgam1	phosphoglycerate mutase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8771607	Pgam1	phosphoglycerate mutase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8771607	Pgam1	phosphoglycerate mutase 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:737211	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
8771607	Pgam1	phosphoglycerate mutase 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:737211	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8771607	Pgam1	phosphoglycerate mutase 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:737211	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8771607	Pgam1	phosphoglycerate mutase 1	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:737211	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
8771618	Rab18	RAB18, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8771618	Rab18	RAB18, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8771618	Rab18	RAB18, member RAS oncogene family	gene	DOID:0060237	Warburg micro syndrome		ISO	RGD:1318941	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	
8771618	Rab18	RAB18, member RAS oncogene family	gene	DOID:0110718	Warburg micro syndrome 3		ISO	RGD:1318941	D	RGD:7240710	20180130	OMIM			
8771618	Rab18	RAB18, member RAS oncogene family	gene	DOID:0110718	Warburg micro syndrome 3		ISO	RGD:1318941	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RAB18-related condition | ClinVar Annotator: match by term: WARBURG MICRO SYNDROME 3 | ClinVar Annotator: match by term: Warburg micro syndrome 3	PMID:21473985|PMID:23420520|PMID:25741868|PMID:28492532
8771618	Rab18	RAB18, member RAS oncogene family	gene	DOID:1115	sarcoma		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8771618	Rab18	RAB18, member RAS oncogene family	gene	DOID:1324	lung cancer		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8771618	Rab18	RAB18, member RAS oncogene family	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8771618	Rab18	RAB18, member RAS oncogene family	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8771618	Rab18	RAB18, member RAS oncogene family	gene	DOID:543	dystonia		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonia	PMID:25741868
8771618	Rab18	RAB18, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771618	Rab18	RAB18, member RAS oncogene family	gene	DOID:630	genetic disease		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8771618	Rab18	RAB18, member RAS oncogene family	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8771618	Rab18	RAB18, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8771618	Rab18	RAB18, member RAS oncogene family	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	
8771651	Fgf23	fibroblast growth factor 23	gene	DOID:0050336	hypophosphatemia		ISO	RGD:1351456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypophosphatemia	PMID:25741868
8771651	Fgf23	fibroblast growth factor 23	gene	DOID:0050459	hyperphosphatemia		ISO	RGD:1351456	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17710231
8771651	Fgf23	fibroblast growth factor 23	gene	DOID:0050589	inflammatory bowel disease	disease_progression	ISO	RGD:1351456	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:22551310|REF_RGD_ID:10044237
8771651	Fgf23	fibroblast growth factor 23	gene	DOID:0050948	autosomal dominant hypophosphatemic rickets		ISO	RGD:1351456	D	RGD:7240710	20180130	OMIM			
8771651	Fgf23	fibroblast growth factor 23	gene	DOID:0050948	autosomal dominant hypophosphatemic rickets		ISO	RGD:1351456	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal Dominant Hypophosphatemic Rickets | ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets	PMID:11062477|PMID:11409890|PMID:11737582|PMID:11805436|PMID:12050201|PMID:12130585|PMID:12711740|PMID:12851820|PMID:12874285|PMID:15182416|PMID:15590700|PMID:15628294|PMID:15836777|PMID:15885032|PMID:16436388|PMID:17227222|PMID:17452648|PMID:17623664|PMID:17992255|PMID:18682534|PMID:21880793|PMID:22419710|PMID:24033266|PMID:25445451|PMID:25741868|PMID:26186302|PMID:26467025|PMID:28492532|PMID:29336609|PMID:31486862|PMID:32415663|PMID:34633109|PMID:35738466|PMID:40794449
8771651	Fgf23	fibroblast growth factor 23	gene	DOID:0111063	hyperphosphatemic familial tumoral calcinosis		ISO	RGD:1351456	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tumoral calcinosis, familial, hyperphosphatemic	PMID:15590700|PMID:15687325|PMID:18682534|PMID:19837926|PMID:24033266|PMID:25326637|PMID:25741868
8771651	Fgf23	fibroblast growth factor 23	gene	DOID:182	calcinosis		ISO	RGD:1351456	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17710231
8771651	Fgf23	fibroblast growth factor 23	gene	DOID:4676	uremia		ISO	RGD:620178	D	RGD:9068941	20200609	RGD			PMID:19339809|REF_RGD_ID:10044236
8771651	Fgf23	fibroblast growth factor 23	gene	DOID:630	genetic disease		ISO	RGD:1351456	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8771651	Fgf23	fibroblast growth factor 23	gene	DOID:784	chronic kidney disease		ISO	RGD:620178	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:20016468|REF_RGD_ID:10044210
8771651	Fgf23	fibroblast growth factor 23	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:1351456	D	RGD:9068941	20260521	RGD			PMID:14988389|REF_RGD_ID:10044208
8771651	Fgf23	fibroblast growth factor 23	gene	DOID:9002165	Diabetic Nephropathies	severity	ISO	RGD:620178	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:kidney:	PMID:23967103|REF_RGD_ID:10044235
8771651	Fgf23	fibroblast growth factor 23	gene	DOID:9002589	Bone Fractures		ISO	RGD:1351456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:25741868
8771651	Fgf23	fibroblast growth factor 23	gene	DOID:9002644	Premature Aging		ISO	RGD:734317	D	RGD:9068941	20200609	RGD			PMID:18729070|REF_RGD_ID:10044240
8771651	Fgf23	fibroblast growth factor 23	gene	DOID:9002644	Premature Aging		ISO	RGD:734317	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver:	PMID:19500727|REF_RGD_ID:10045876
8771651	Fgf23	fibroblast growth factor 23	gene	DOID:9004914	Postmenopausal Osteoporosis		ISO	RGD:1351456	D	RGD:9068941	20200609	RGD		protein:increased expression: :	PMID:24101107|REF_RGD_ID:10044241
8771651	Fgf23	fibroblast growth factor 23	gene	DOID:9006332	Vascular Calcification		ISO	RGD:620178	D	RGD:9068941	20250814	RGD		associated with end stage renal disease;mRNA,protein:increased expression:artery	PMID:30973285|REF_RGD_ID:625787427
8771651	Fgf23	fibroblast growth factor 23	gene	DOID:9007069	Hyperphosphatemic Familial Tumoral Calcinosis 2		ISO	RGD:1351456	D	RGD:7240710	20190508	OMIM			
8771651	Fgf23	fibroblast growth factor 23	gene	DOID:9007069	Hyperphosphatemic Familial Tumoral Calcinosis 2		ISO	RGD:1351456	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: TUMORAL CALCINOSIS, FAMILIAL, HYPERPHOSPHATEMIC, 2 | ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 2	PMID:11062477|PMID:22419710|PMID:24033266|PMID:25445451|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29336609|PMID:35873773
8771651	Fgf23	fibroblast growth factor 23	gene	DOID:9007181	Osteoporotic Fractures		ISO	RGD:1351456	D	RGD:9068941	20200609	RGD			PMID:20928885|REF_RGD_ID:10044238
8771651	Fgf23	fibroblast growth factor 23	gene	DOID:9007992	Hyperphosphatemic Familial Tumoral Calcinosis 1		ISO	RGD:1351456	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1	PMID:25741868
8771669	Gadd45a	growth arrest and DNA damage inducible alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8771669	Gadd45a	growth arrest and DNA damage inducible alpha	gene	DOID:1793	pancreatic cancer		ISO	RGD:733803	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19003803
8771669	Gadd45a	growth arrest and DNA damage inducible alpha	gene	DOID:4362	cervical cancer		ISO	RGD:733803	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8771669	Gadd45a	growth arrest and DNA damage inducible alpha	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8771669	Gadd45a	growth arrest and DNA damage inducible alpha	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:733803	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12878215
8771669	Gadd45a	growth arrest and DNA damage inducible alpha	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:733803	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8771669	Gadd45a	growth arrest and DNA damage inducible alpha	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:733803	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15837757
8771669	Gadd45a	growth arrest and DNA damage inducible alpha	gene	DOID:9000945	Ventilator-Induced Lung Injury		ISO	RGD:736689	D	RGD:9068941	20200609	RGD			PMID:19124556|REF_RGD_ID:5509080
8771669	Gadd45a	growth arrest and DNA damage inducible alpha	gene	DOID:9001341	Chloracne		ISO	RGD:733803	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
8771669	Gadd45a	growth arrest and DNA damage inducible alpha	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733803	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19190346
8771669	Gadd45a	growth arrest and DNA damage inducible alpha	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:733803	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17474084
8771669	Gadd45a	growth arrest and DNA damage inducible alpha	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:733803	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20623750
8771669	Gadd45a	growth arrest and DNA damage inducible alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8771669	Gadd45a	growth arrest and DNA damage inducible alpha	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:736689	D	RGD:9068941	20220825	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
8771680	Tas2r38	taste 2 receptor member 38	gene	DOID:1574	alcohol use disorder		ISO	RGD:1346793	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17250611
8771680	Tas2r38	taste 2 receptor member 38	gene	DOID:9004935	Thiourea Tasting		ISO	RGD:1346793	D	RGD:7240710	20180130	OMIM			
8771680	Tas2r38	taste 2 receptor member 38	gene	DOID:9004935	Thiourea Tasting		ISO	RGD:1346793	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PHENYLTHIOCARBAMIDE TASTING	
8771683	Rbm39	RNA binding motif protein 39	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8771683	Rbm39	RNA binding motif protein 39	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8771683	Rbm39	RNA binding motif protein 39	gene	DOID:10534	stomach cancer		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8771683	Rbm39	RNA binding motif protein 39	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8771683	Rbm39	RNA binding motif protein 39	gene	DOID:1324	lung cancer		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8771683	Rbm39	RNA binding motif protein 39	gene	DOID:3275	thymoma		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8771683	Rbm39	RNA binding motif protein 39	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8771683	Rbm39	RNA binding motif protein 39	gene	DOID:4362	cervical cancer		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8771683	Rbm39	RNA binding motif protein 39	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8771683	Rbm39	RNA binding motif protein 39	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771683	Rbm39	RNA binding motif protein 39	gene	DOID:6039	uveal melanoma		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8771683	Rbm39	RNA binding motif protein 39	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8771683	Rbm39	RNA binding motif protein 39	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8771708	Usp44	ubiquitin specific peptidase 44	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8771708	Usp44	ubiquitin specific peptidase 44	gene	DOID:1115	sarcoma		ISO	RGD:1317864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8771708	Usp44	ubiquitin specific peptidase 44	gene	DOID:5041	esophageal cancer		ISO	RGD:1317864	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8771708	Usp44	ubiquitin specific peptidase 44	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8771723	Kctd13	potassium channel tetramerization domain containing 13	gene	DOID:0060686	autosomal dominant nocturnal frontal lobe epilepsy 5		ISO	RGD:1345683	D	RGD:8554872	20250821	ClinVar		ClinVar Annotator: match by term: KCTD13-related disorder	
8771723	Kctd13	potassium channel tetramerization domain containing 13	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1345683	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
8771723	Kctd13	potassium channel tetramerization domain containing 13	gene	DOID:12849	autistic disorder		ISO	RGD:1345683	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3	PMID:21681106|PMID:30208311
8771723	Kctd13	potassium channel tetramerization domain containing 13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8771723	Kctd13	potassium channel tetramerization domain containing 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8771723	Kctd13	potassium channel tetramerization domain containing 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8771733	Snca	synuclein alpha	gene	DOID:0050890	synucleinopathy		ISO	RGD:733186	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:34332006
8771733	Snca	synuclein alpha	gene	DOID:0060367	Parkinson's disease 1		ISO	RGD:733186	D	RGD:7240710	20180130	OMIM			
8771733	Snca	synuclein alpha	gene	DOID:0060367	Parkinson's disease 1		ISO	RGD:733186	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 1 | ClinVar Annotator: match by term: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT	PMID:10482268|PMID:11376188|PMID:12062037|PMID:15144854|PMID:15451224|PMID:15451225|PMID:16199547|PMID:17576681|PMID:18413475|PMID:18852445|PMID:19139307|PMID:19833540|PMID:21252228|PMID:21559878|PMID:23404372|PMID:23526723|PMID:23674501|PMID:23880019|PMID:24313877|PMID:24315198|PMID:24552873|PMID:24728187|PMID:24746362|PMID:24984882|PMID:25003242|PMID:25268550|PMID:25393002|PMID:25741868|PMID:25892596|PMID:26306801|PMID:26799529|PMID:26858591|PMID:27066564|PMID:27393118|PMID:27838048|PMID:27938414|PMID:28012952|PMID:28416701|PMID:28492532|PMID:28666710|PMID:29233723|PMID:30423204|PMID:31267130|PMID:32786148|PMID:33617693|PMID:9197268|PMID:9536098
8771733	Snca	synuclein alpha	gene	DOID:0060895	Parkinson's disease 4		ISO	RGD:733186	D	RGD:7240710	20180130	OMIM			
8771733	Snca	synuclein alpha	gene	DOID:0060895	Parkinson's disease 4		ISO	RGD:733186	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY	PMID:25741868|PMID:28492532
8771733	Snca	synuclein alpha	gene	DOID:0080855	Parkinsonism		ISO	RGD:733186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	
8771733	Snca	synuclein alpha	gene	DOID:10534	stomach cancer		ISO	RGD:733186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8771733	Snca	synuclein alpha	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733186	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:11572944|REF_RGD_ID:1302528
8771733	Snca	synuclein alpha	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733186	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:18577885|REF_RGD_ID:6478792
8771733	Snca	synuclein alpha	gene	DOID:11870	Pick's disease		ISO	RGD:733186	D	RGD:9068941	20200609	RGD		protein:increased expression:dentate gyrus	PMID:12410393|REF_RGD_ID:6480200
8771733	Snca	synuclein alpha	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:733186	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral spinal fluid:	PMID:18625222|REF_RGD_ID:13506723
8771733	Snca	synuclein alpha	gene	DOID:12217	Lewy body dementia		ISO	RGD:733186	D	RGD:7240710	20180130	OMIM			
8771733	Snca	synuclein alpha	gene	DOID:12217	Lewy body dementia		ISO	RGD:733186	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEMENTIA, LEWY BODY | ClinVar Annotator: match by term: Lewy body dementia	PMID:14755719|PMID:15451224|PMID:15451225|PMID:16001411|PMID:18413475|PMID:18852445|PMID:19139307|PMID:19833540|PMID:23880019|PMID:24552873|PMID:25003242|PMID:25393002|PMID:25741868|PMID:28492532
8771733	Snca	synuclein alpha	gene	DOID:1289	neurodegenerative disease		ISO	RGD:733186	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:17296847|PMID:18514411|PMID:26075822
8771733	Snca	synuclein alpha	gene	DOID:13548	secondary Parkinson disease		ISO	RGD:733186	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:34332006
8771733	Snca	synuclein alpha	gene	DOID:14330	Parkinson's disease		ISO	RGD:733186	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Parkinson Disease, Dominant	PMID:23427326|PMID:23457019|PMID:24047453|PMID:24752924|PMID:24936070|PMID:25393002|PMID:25741868|PMID:26341711|PMID:28492532|PMID:29398121|PMID:30528390
8771733	Snca	synuclein alpha	gene	DOID:14330	Parkinson's disease		ISO	RGD:733186	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Parkinson Disease, Dominant | ClinVar Annotator: match by term: Parkinson Disease, Recessive	PMID:24752924|PMID:25393002|PMID:25741868|PMID:28492532
8771733	Snca	synuclein alpha	gene	DOID:14330	Parkinson's disease		ISO	RGD:733186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinson Disease, Dominant	PMID:25393002|PMID:25741868|PMID:28492532
8771733	Snca	synuclein alpha	gene	DOID:1574	alcohol use disorder		ISO	RGD:733186	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18055133
8771733	Snca	synuclein alpha	gene	DOID:1596	depressive disorder		ISO	RGD:3729	D	RGD:9068941	20200609	RGD			PMID:18800064|REF_RGD_ID:6218960
8771733	Snca	synuclein alpha	gene	DOID:1596	depressive disorder		ISO	RGD:733186	D	RGD:9068941	20200609	RGD			PMID:19198857|REF_RGD_ID:6478716
8771733	Snca	synuclein alpha	gene	DOID:1926	Gaucher's disease		ISO	RGD:733186	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19576930
8771733	Snca	synuclein alpha	gene	DOID:3192	neurilemmoma		ISO	RGD:3729	D	RGD:9068941	20200609	RGD		protein:increased expression:cytoplasm	PMID:11810180|REF_RGD_ID:6218996
8771733	Snca	synuclein alpha	gene	DOID:3312	bipolar disorder		ISO	RGD:733186	D	RGD:9068941	20200609	RGD			PMID:19198857|REF_RGD_ID:6478716
8771733	Snca	synuclein alpha	gene	DOID:3321	GM2 gangliosidosis		ISO	RGD:735748	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:12657883|REF_RGD_ID:6480199
8771733	Snca	synuclein alpha	gene	DOID:3981	pantothenate kinase-associated neurodegeneration		ISO	RGD:733186	D	RGD:9068941	20200609	RGD			PMID:10934140|REF_RGD_ID:6480098
8771733	Snca	synuclein alpha	gene	DOID:4752	multiple system atrophy		ISO	RGD:733186	D	RGD:9068941	20200609	RGD		protein:increased expression:oligodendrocyte	PMID:9749615|REF_RGD_ID:6480091
8771733	Snca	synuclein alpha	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8771733	Snca	synuclein alpha	gene	DOID:5419	schizophrenia		ISO	RGD:733186	D	RGD:9068941	20200609	RGD			PMID:19198857|REF_RGD_ID:6478716
8771733	Snca	synuclein alpha	gene	DOID:6000	congestive heart failure		ISO	RGD:733186	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
8771733	Snca	synuclein alpha	gene	DOID:630	genetic disease		ISO	RGD:733186	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8771733	Snca	synuclein alpha	gene	DOID:670	amphetamine abuse		ISO	RGD:733186	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	PMID:15542733|PMID:32278788
8771733	Snca	synuclein alpha	gene	DOID:670	amphetamine abuse	treatment	ISO	RGD:3729	D	RGD:9068941	20200609	RGD			PMID:20551914|REF_RGD_ID:13506280
8771733	Snca	synuclein alpha	gene	DOID:8646	substance-induced psychosis		ISO	RGD:733186	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15542733
8771733	Snca	synuclein alpha	gene	DOID:8692	myeloid leukemia		ISO	RGD:733186	D	RGD:9068941	20200609	RGD			PMID:21264917|REF_RGD_ID:6478703
8771733	Snca	synuclein alpha	gene	DOID:8725	vascular dementia		ISO	RGD:733186	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:35307828
8771733	Snca	synuclein alpha	gene	DOID:893	Wilson disease		ISO	RGD:733186	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23519153
8771733	Snca	synuclein alpha	gene	DOID:9000304	Manganese Poisoning		ISO	RGD:733186	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23934647
8771733	Snca	synuclein alpha	gene	DOID:9000542	Animal Lameness		ISO	RGD:733186	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23219665
8771733	Snca	synuclein alpha	gene	DOID:9000998	Brain Injuries		ISO	RGD:3729	D	RGD:9068941	20200609	RGD			PMID:25089700|REF_RGD_ID:11576302
8771733	Snca	synuclein alpha	gene	DOID:9000998	Brain Injuries		ISO	RGD:735748	D	RGD:9068941	20200609	RGD			PMID:14637093|REF_RGD_ID:6480195
8771733	Snca	synuclein alpha	gene	DOID:9001981	Weight Loss		ISO	RGD:733186	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	PMID:32278788
8771733	Snca	synuclein alpha	gene	DOID:9002320	Neurobehavioral Manifestations		ISO	RGD:733186	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	PMID:32278788
8771733	Snca	synuclein alpha	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:733186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mental deterioration	
8771733	Snca	synuclein alpha	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:733186	D	RGD:9068941	20240905	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:21039522|PMID:23106139|PMID:27585560|PMID:34562559|PMID:38311184
8771733	Snca	synuclein alpha	gene	DOID:9004866	Ataxia		ISO	RGD:733186	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:31783120
8771733	Snca	synuclein alpha	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:733186	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18055133
8771733	Snca	synuclein alpha	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:733186	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:dopamine neuron	PMID:12684441|REF_RGD_ID:6480198
8771733	Snca	synuclein alpha	gene	DOID:9006205	Animal Disease Models		ISO	RGD:733186	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21892157|PMID:26075822
8771755	Spire1	spire type actin nucleation factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8771755	Spire1	spire type actin nucleation factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8771755	Spire1	spire type actin nucleation factor 1	gene	DOID:1909	melanoma		ISO	RGD:1354236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8771755	Spire1	spire type actin nucleation factor 1	gene	DOID:3275	thymoma		ISO	RGD:1354236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8771755	Spire1	spire type actin nucleation factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1354236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8771755	Spire1	spire type actin nucleation factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771755	Spire1	spire type actin nucleation factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8771755	Spire1	spire type actin nucleation factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8771755	Spire1	spire type actin nucleation factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8771780	Tm6sf2	transmembrane 6 superfamily member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8771780	Tm6sf2	transmembrane 6 superfamily member 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1318158	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24531328
8771780	Tm6sf2	transmembrane 6 superfamily member 2	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:1318158	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26482880
8771780	Tm6sf2	transmembrane 6 superfamily member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8771780	Tm6sf2	transmembrane 6 superfamily member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8771780	Tm6sf2	transmembrane 6 superfamily member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771780	Tm6sf2	transmembrane 6 superfamily member 2	gene	DOID:5844	myocardial infarction		ISO	RGD:1318158	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24633158
8771780	Tm6sf2	transmembrane 6 superfamily member 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8771780	Tm6sf2	transmembrane 6 superfamily member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8771780	Tm6sf2	transmembrane 6 superfamily member 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1318158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8771794	Slc45a3	solute carrier family 45 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8771794	Slc45a3	solute carrier family 45 member 3	gene	DOID:0080600	COVID-19		ISO	RGD:1346444	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8771794	Slc45a3	solute carrier family 45 member 3	gene	DOID:3307	teratoma		ISO	RGD:1346444	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
8771794	Slc45a3	solute carrier family 45 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771794	Slc45a3	solute carrier family 45 member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8771812	Tjp1	tight junction protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8771812	Tjp1	tight junction protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8771812	Tjp1	tight junction protein 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314849	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8771812	Tjp1	tight junction protein 1	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	ISO	RGD:1306305	D	RGD:9068941	20240801	RGD			PMID:23277536|REF_RGD_ID:407424596
8771812	Tjp1	tight junction protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8771812	Tjp1	tight junction protein 1	gene	DOID:10825	essential hypertension		ISO	RGD:1314849	D	RGD:9068941	20221110	CTD		CTD Direct Evidence: marker/mechanism	PMID:34453990
8771812	Tjp1	tight junction protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8771812	Tjp1	tight junction protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8771812	Tjp1	tight junction protein 1	gene	DOID:13141	uveitis		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		protein:decreased expression, altered localization: corneal endothelium	PMID:18587491|REF_RGD_ID:2325139
8771812	Tjp1	tight junction protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8771812	Tjp1	tight junction protein 1	gene	DOID:13580	cholestasis		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:18197414|REF_RGD_ID:2325141
8771812	Tjp1	tight junction protein 1	gene	DOID:13976	peptic esophagitis		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD			PMID:19653339|REF_RGD_ID:2325133
8771812	Tjp1	tight junction protein 1	gene	DOID:1909	melanoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8771812	Tjp1	tight junction protein 1	gene	DOID:2316	brain ischemia		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:19712057|REF_RGD_ID:2325131
8771812	Tjp1	tight junction protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8771812	Tjp1	tight junction protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8771812	Tjp1	tight junction protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8771812	Tjp1	tight junction protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8771812	Tjp1	tight junction protein 1	gene	DOID:4606	bile duct cancer		ISO	RGD:1314849	D	RGD:9068941	20200609	RGD		protein:decreased expression:bile duct	PMID:19184677|REF_RGD_ID:2325030
8771812	Tjp1	tight junction protein 1	gene	DOID:4724	brain edema		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral edema	PMID:25741868
8771812	Tjp1	tight junction protein 1	gene	DOID:4948	gallbladder carcinoma		ISO	RGD:1314849	D	RGD:9068941	20200609	RGD		protein:decreased expression:gallbladder	PMID:19184677|REF_RGD_ID:2325030
8771812	Tjp1	tight junction protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314849	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8771812	Tjp1	tight junction protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771812	Tjp1	tight junction protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8771812	Tjp1	tight junction protein 1	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:19390485|REF_RGD_ID:2317627
8771812	Tjp1	tight junction protein 1	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		protein:altered localization	PMID:18854840|REF_RGD_ID:2325137
8771812	Tjp1	tight junction protein 1	gene	DOID:9000641	Pain		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		associated with Inflammation;protein:increased expression:brain	PMID:19319146|REF_RGD_ID:2325136
8771812	Tjp1	tight junction protein 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD			PMID:19889224|REF_RGD_ID:2325128
8771812	Tjp1	tight junction protein 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD			PMID:18848892|REF_RGD_ID:2325138
8771812	Tjp1	tight junction protein 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD			PMID:19929946|REF_RGD_ID:2325127
8771812	Tjp1	tight junction protein 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain, endothelial cell	PMID:19374856|REF_RGD_ID:2325135
8771812	Tjp1	tight junction protein 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		protein:decreased expression:glomerulus	PMID:16567508|REF_RGD_ID:2325150
8771812	Tjp1	tight junction protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8771812	Tjp1	tight junction protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8771812	Tjp1	tight junction protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8771812	Tjp1	tight junction protein 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1314850	D	RGD:9068941	20200609	RGD		protein:decreased expression:glomerulus	PMID:16567508|REF_RGD_ID:2325150
8771812	Tjp1	tight junction protein 1	gene	DOID:936	brain disease		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		associate with Pancreatitis, Acute Necrotizing	PMID:19712057|REF_RGD_ID:2325131
8771858	Znf746	zinc finger protein 746	gene	DOID:1115	sarcoma		ISO	RGD:1606138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8771858	Znf746	zinc finger protein 746	gene	DOID:1909	melanoma		ISO	RGD:1606138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8771858	Znf746	zinc finger protein 746	gene	DOID:3070	high grade glioma		ISO	RGD:1606138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8771858	Znf746	zinc finger protein 746	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8771858	Znf746	zinc finger protein 746	gene	DOID:4362	cervical cancer		ISO	RGD:1606138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8771858	Znf746	zinc finger protein 746	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606138	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8771858	Znf746	zinc finger protein 746	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606138	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8771879	Epn1	epsin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8771879	Epn1	epsin 1	gene	DOID:1115	sarcoma		ISO	RGD:1342807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8771879	Epn1	epsin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8771879	Epn1	epsin 1	gene	DOID:3275	thymoma		ISO	RGD:1342807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8771879	Epn1	epsin 1	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:619772	D	RGD:9068941	20200609	RGD		protein:increased degradation:brain	PMID:19240038|REF_RGD_ID:13461853
8771879	Epn1	epsin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771879	Epn1	epsin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8771879	Epn1	epsin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8771879	Epn1	epsin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8771908	Sgtb	small glutamine rich tetratricopeptide repeat co-chaperone beta	gene	DOID:10534	stomach cancer		ISO	RGD:1353974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8771908	Sgtb	small glutamine rich tetratricopeptide repeat co-chaperone beta	gene	DOID:1909	melanoma		ISO	RGD:1353974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8771908	Sgtb	small glutamine rich tetratricopeptide repeat co-chaperone beta	gene	DOID:4362	cervical cancer		ISO	RGD:1353974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8771908	Sgtb	small glutamine rich tetratricopeptide repeat co-chaperone beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771908	Sgtb	small glutamine rich tetratricopeptide repeat co-chaperone beta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8771908	Sgtb	small glutamine rich tetratricopeptide repeat co-chaperone beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8771908	Sgtb	small glutamine rich tetratricopeptide repeat co-chaperone beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8771908	Sgtb	small glutamine rich tetratricopeptide repeat co-chaperone beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8771950	Sidt1	SID1 transmembrane family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8771950	Sidt1	SID1 transmembrane family member 1	gene	DOID:0060058	lymphoma		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8771950	Sidt1	SID1 transmembrane family member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8771950	Sidt1	SID1 transmembrane family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8771950	Sidt1	SID1 transmembrane family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8771950	Sidt1	SID1 transmembrane family member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8771950	Sidt1	SID1 transmembrane family member 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1346888	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8771950	Sidt1	SID1 transmembrane family member 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8771950	Sidt1	SID1 transmembrane family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8771950	Sidt1	SID1 transmembrane family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771950	Sidt1	SID1 transmembrane family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8771950	Sidt1	SID1 transmembrane family member 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8771950	Sidt1	SID1 transmembrane family member 1	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1346888	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
8771950	Sidt1	SID1 transmembrane family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8771950	Sidt1	SID1 transmembrane family member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8771950	Sidt1	SID1 transmembrane family member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8771992	Tpm4	tropomyosin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8771992	Tpm4	tropomyosin 4	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:736665	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15986332
8771992	Tpm4	tropomyosin 4	gene	DOID:10320	asbestosis		ISO	RGD:736665	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22537621
8771992	Tpm4	tropomyosin 4	gene	DOID:10534	stomach cancer		ISO	RGD:736665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8771992	Tpm4	tropomyosin 4	gene	DOID:11476	osteoporosis		ISO	RGD:736665	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
8771992	Tpm4	tropomyosin 4	gene	DOID:1909	melanoma		ISO	RGD:736665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8771992	Tpm4	tropomyosin 4	gene	DOID:2213	hemorrhagic disease		ISO	RGD:736665	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	
8771992	Tpm4	tropomyosin 4	gene	DOID:3070	high grade glioma		ISO	RGD:736665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8771992	Tpm4	tropomyosin 4	gene	DOID:3275	thymoma		ISO	RGD:736665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8771992	Tpm4	tropomyosin 4	gene	DOID:4362	cervical cancer		ISO	RGD:736665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8771992	Tpm4	tropomyosin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8771992	Tpm4	tropomyosin 4	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:736665	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15986332
8771992	Tpm4	tropomyosin 4	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:736665	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085005
8771992	Tpm4	tropomyosin 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736665	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8771992	Tpm4	tropomyosin 4	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:736665	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
8771992	Tpm4	tropomyosin 4	gene	DOID:9004657	Weight Gain		ISO	RGD:736665	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8771992	Tpm4	tropomyosin 4	gene	DOID:9005692	Platelet-Type Bleeding Disorder 25		ISO	RGD:736665	D	RGD:7240710	20230906	OMIM			
8771992	Tpm4	tropomyosin 4	gene	DOID:9005692	Platelet-Type Bleeding Disorder 25		ISO	RGD:736665	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 25 | ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 25	PMID:25741868|PMID:35170221
8771992	Tpm4	tropomyosin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8772004	Arhgap4	Rho GTPase activating protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8772004	Arhgap4	Rho GTPase activating protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8772004	Arhgap4	Rho GTPase activating protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1343373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8772004	Arhgap4	Rho GTPase activating protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8772004	Arhgap4	Rho GTPase activating protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1343373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8772004	Arhgap4	Rho GTPase activating protein 4	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1343373	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614
8772004	Arhgap4	Rho GTPase activating protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1343373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8772004	Arhgap4	Rho GTPase activating protein 4	gene	DOID:1909	melanoma		ISO	RGD:1343373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8772004	Arhgap4	Rho GTPase activating protein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8772004	Arhgap4	Rho GTPase activating protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1343373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8772004	Arhgap4	Rho GTPase activating protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1343373	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8772004	Arhgap4	Rho GTPase activating protein 4	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1343373	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8772004	Arhgap4	Rho GTPase activating protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772004	Arhgap4	Rho GTPase activating protein 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8772004	Arhgap4	Rho GTPase activating protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8772004	Arhgap4	Rho GTPase activating protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8772004	Arhgap4	Rho GTPase activating protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8772054	Sod3	superoxide dismutase 3	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:736515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16081686
8772054	Sod3	superoxide dismutase 3	gene	DOID:10763	hypertension		ISO	RGD:11331	D	RGD:9068941	20200609	RGD			PMID:16864745|REF_RGD_ID:1581232
8772054	Sod3	superoxide dismutase 3	gene	DOID:10763	hypertension		ISO	RGD:3733	D	RGD:9068941	20200609	RGD			PMID:12600899|REF_RGD_ID:1580845
8772054	Sod3	superoxide dismutase 3	gene	DOID:10763	hypertension		ISO	RGD:736515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:16864745|PMID:17023265
8772054	Sod3	superoxide dismutase 3	gene	DOID:114	heart disease		ISO	RGD:736515	D	RGD:9068941	20200609	RGD			PMID:16014615|PMID:16840738|REF_RGD_ID:1579965|REF_RGD_ID:1580843
8772054	Sod3	superoxide dismutase 3	gene	DOID:1389	polyneuropathy		ISO	RGD:736515	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1;DNA:polymorphism:exon:p.R213G (human)	PMID:12815947|REF_RGD_ID:1581254
8772054	Sod3	superoxide dismutase 3	gene	DOID:2316	brain ischemia		ISO	RGD:11331	D	RGD:9068941	20200609	RGD			PMID:10833313|REF_RGD_ID:1580852
8772054	Sod3	superoxide dismutase 3	gene	DOID:2773	contact dermatitis		ISO	RGD:736515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17392825
8772054	Sod3	superoxide dismutase 3	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:736515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16399992|PMID:16467073
8772054	Sod3	superoxide dismutase 3	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:736515	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.R213G (human)	PMID:16399992|REF_RGD_ID:1581270
8772054	Sod3	superoxide dismutase 3	gene	DOID:3393	coronary artery disease		ISO	RGD:736515	D	RGD:9068941	20200609	RGD			PMID:10811593|REF_RGD_ID:1580853
8772054	Sod3	superoxide dismutase 3	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:736515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15298984
8772054	Sod3	superoxide dismutase 3	gene	DOID:552	pneumonia		ISO	RGD:736515	D	RGD:9068941	20200609	RGD			PMID:16842247|REF_RGD_ID:1581268
8772054	Sod3	superoxide dismutase 3	gene	DOID:5844	myocardial infarction		ISO	RGD:736515	D	RGD:9068941	20200609	RGD			PMID:14592844|REF_RGD_ID:1580841
8772054	Sod3	superoxide dismutase 3	gene	DOID:6000	congestive heart failure		ISO	RGD:736515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20304815
8772054	Sod3	superoxide dismutase 3	gene	DOID:8618	oral cavity cancer		ISO	RGD:736515	D	RGD:9068941	20200609	RGD			PMID:23057317|REF_RGD_ID:14700938
8772054	Sod3	superoxide dismutase 3	gene	DOID:8805	intermediate coronary syndrome		ISO	RGD:736515	D	RGD:9068941	20200609	RGD			PMID:14592844|REF_RGD_ID:1580841
8772054	Sod3	superoxide dismutase 3	gene	DOID:8947	diabetic retinopathy		ISO	RGD:736515	D	RGD:9068941	20200609	RGD			PMID:12663605|REF_RGD_ID:1581298
8772054	Sod3	superoxide dismutase 3	gene	DOID:9000784	Fibrosis		ISO	RGD:11331	D	RGD:9068941	20200609	RGD			PMID:11880297|REF_RGD_ID:1581266
8772054	Sod3	superoxide dismutase 3	gene	DOID:9000784	Fibrosis		ISO	RGD:736515	D	RGD:9068941	20200609	RGD			PMID:11880297|REF_RGD_ID:1581266
8772054	Sod3	superoxide dismutase 3	gene	DOID:9000918	Disease Progression		ISO	RGD:736515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16081686
8772054	Sod3	superoxide dismutase 3	gene	DOID:9001472	Nasal Polyps		ISO	RGD:736515	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:middle nasal turbinate, lamella (human)	PMID:16540901|REF_RGD_ID:1581230
8772054	Sod3	superoxide dismutase 3	gene	DOID:9001820	Pulmonary Arterial Hypertension	exacerbates	ISO	XCO:0000642	D	RGD:9068941	20220128	RGD			PMID:21730301|REF_RGD_ID:14369425
8772054	Sod3	superoxide dismutase 3	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:736515	D	RGD:9068941	20200609	RGD		human gene in a rat model	PMID:11779401|REF_RGD_ID:1581095
8772054	Sod3	superoxide dismutase 3	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:11331	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney	PMID:19470681|REF_RGD_ID:2312361
8772054	Sod3	superoxide dismutase 3	gene	DOID:9002669	Hypoxia		ISO	RGD:11331	D	RGD:9068941	20200609	RGD			PMID:15375030|REF_RGD_ID:1581265
8772054	Sod3	superoxide dismutase 3	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:11331	D	RGD:9068941	20200609	RGD			PMID:15778274|REF_RGD_ID:1581264
8772054	Sod3	superoxide dismutase 3	gene	DOID:9004484	Sepsis		ISO	RGD:3733	D	RGD:9068941	20200609	RGD			PMID:26266917|REF_RGD_ID:11035300
8772054	Sod3	superoxide dismutase 3	gene	DOID:9005749	Necrosis		ISO	RGD:736515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11529661
8772054	Sod3	superoxide dismutase 3	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:736515	D	RGD:9068941	20230928	RGD		associated with coronary artery disease;DNA:SNP: :rs2536512, rs2855262 (human)	PMID:31396447|REF_RGD_ID:401827159
8772054	Sod3	superoxide dismutase 3	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:736515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Superoxide dismutase, elevated extracellular	PMID:25741868
8772054	Sod3	superoxide dismutase 3	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11529661
8772054	Sod3	superoxide dismutase 3	gene	DOID:9007480	Hyperoxia		ISO	RGD:736515	D	RGD:9068941	20200609	RGD			PMID:16100289|REF_RGD_ID:1581277
8772054	Sod3	superoxide dismutase 3	gene	DOID:9007692	Insulin Resistance		ISO	RGD:736515	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma	PMID:15171689|REF_RGD_ID:1625698
8772054	Sod3	superoxide dismutase 3	gene	DOID:9351	diabetes mellitus		ISO	RGD:736515	D	RGD:9068941	20200609	RGD			PMID:12830380|REF_RGD_ID:1581299
8772054	Sod3	superoxide dismutase 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736515	D	RGD:9068941	20200609	RGD			PMID:15990193|REF_RGD_ID:1581225
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:0060058	lymphoma		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:11193	syndactyly		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndactyly	PMID:25741868
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:1148	polydactyly		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:1682	congenital heart disease		ISO	RGD:68547	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:68379	D	RGD:9068941	20200609	RGD			PMID:11720783|REF_RGD_ID:10412057
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:2394	ovarian cancer		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:68547	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:2921	glomerulonephritis		ISO	RGD:68379	D	RGD:9068941	20200609	RGD			PMID:16282705|REF_RGD_ID:7387262
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:3144	cutis laxa		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:25741868|PMID:33991472
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:68547	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:68547	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:68547	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374069
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:9003374	Autosomal Recessive Cutis Laxa Type IIE		ISO	RGD:68547	D	RGD:7240710	20210728	OMIM			
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:9003374	Autosomal Recessive Cutis Laxa Type IIE		ISO	RGD:68547	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE	PMID:25741868
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:9005560	Congenital Hip Dislocation		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hip dislocation	PMID:25741868
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:68379	D	RGD:9068941	20200609	RGD			PMID:17574405|REF_RGD_ID:2302087
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:9007661	Dwarfism		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8772060	Ltbp1	latent transforming growth factor beta binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8772114	Tmco6	transmembrane and coiled-coil domains 6	gene	DOID:10534	stomach cancer		ISO	RGD:1605060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8772114	Tmco6	transmembrane and coiled-coil domains 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8772114	Tmco6	transmembrane and coiled-coil domains 6	gene	DOID:1115	sarcoma		ISO	RGD:1605060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8772114	Tmco6	transmembrane and coiled-coil domains 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8772114	Tmco6	transmembrane and coiled-coil domains 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1605060	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8772114	Tmco6	transmembrane and coiled-coil domains 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772114	Tmco6	transmembrane and coiled-coil domains 6	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8772114	Tmco6	transmembrane and coiled-coil domains 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8772114	Tmco6	transmembrane and coiled-coil domains 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
8772114	Tmco6	transmembrane and coiled-coil domains 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8772114	Tmco6	transmembrane and coiled-coil domains 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:0040088	autoimmune uveitis	treatment	ISO	RGD:1345686	D	RGD:9068941	20211105	RGD		human recombinant protein in a rat model	PMID:28011398|REF_RGD_ID:150520199
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:0050012	chikungunya		ISO	RGD:1345686	D	RGD:9068941	20210122	RGD		protein:increased expression:blood serum (human)	PMID:31365117|REF_RGD_ID:40925935
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:0050598	extrapulmonary tuberculosis		ISO	RGD:1345686	D	RGD:9068941	20201029	RGD		protein:increased expression:serum (human)	PMID:16001981|REF_RGD_ID:39939055
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:0050742	nicotine dependence		ISO	RGD:1345686	D	RGD:9068941	20241107	CTD		CTD Direct Evidence: marker/mechanism	PMID:28864214
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:1345686	D	RGD:9068941	20211022	RGD		mRNA:increased expression:head, neck (human)	PMID:31452775|REF_RGD_ID:150520018
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:0060180	colitis		ISO	RGD:1617608	D	RGD:9068941	20200827	RGD		associated with Helicobacter Infections;mRNA:decreased expression:colon (mouse, Helicobacter hepaticus)	PMID:17242461|REF_RGD_ID:38549339
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19		ISO	RGD:1345686	D	RGD:9068941	20200613	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19		ISO	RGD:1345686	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19		ISO	RGD:1345686	D	RGD:9068941	20200618	RGD		protein:increased expression:serum:	PMID:32416070|REF_RGD_ID:30296676
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19		ISO	RGD:1345686	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19		ISO	RGD:1345686	D	RGD:9068941	20200820	RGD		protein:increased expression:plasma (human)	PMID:32696007|REF_RGD_ID:38501088
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19		ISO	RGD:1345686	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:32161940
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19	disease_progression	ISO	RGD:1345686	D	RGD:9068941	20200618	RGD		associated with diabetes mellitus	PMID:32345579|REF_RGD_ID:30296681
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19	exacerbates	ISO	RGD:1345686	D	RGD:9068941	20211126	RGD		protein:increased expression:blood plasma (human)	PMID:33197260|REF_RGD_ID:150523790
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1345686	D	RGD:9068941	20200619	RGD		protein:increased expression:plasma (human)	PMID:31986264|REF_RGD_ID:30309212
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1345686	D	RGD:9068941	20200625	RGD		protein:increased expression:serum (human)	PMID:32297828|PMID:32365221|PMID:32427582|PMID:32434211|REF_RGD_ID:30309200|REF_RGD_ID:30310229|REF_RGD_ID:30310238|REF_RGD_ID:32716368
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:0080784	urinary tract infection	treatment	ISO	RGD:1345686	D	RGD:9068941	20211105	RGD		human recombinant protein in a mouse model	PMID:28011398|REF_RGD_ID:150520199
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:0080810	acute asthma	treatment	ISO	RGD:1345686	D	RGD:9068941	20210122	RGD			PMID:30059697|REF_RGD_ID:39939057
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:10113	trypanosomiasis	disease_progression	ISO	RGD:1345686	D	RGD:9068941	20211112	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:25375156|REF_RGD_ID:150521552
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:1024	leprosy	severity	ISO	RGD:1345686	D	RGD:9068941	20211112	RGD		DNA:SNP:promoter:g.-353T>A (rs4073) (human)	PMID:30303246|REF_RGD_ID:40400755
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:10459	common cold	treatment	ISO	RGD:1345686	D	RGD:9068941	20211112	RGD			PMID:28343401|REF_RGD_ID:150521550
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:10533	viral pneumonia		ISO	RGD:1345686	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:10534	stomach cancer		ISO	RGD:1345686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:10754	otitis media		IEP		D	RGD:11553900|PMID:10085040	20161017	RGD			
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:11077	brucellosis	susceptibility	ISO	RGD:1345686	D	RGD:9068941	20211126	RGD		DNA:SNP:promoter:g.-251A>T (human)	PMID:24076593|REF_RGD_ID:150523788
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:11265	trachoma	susceptibility	ISO	RGD:1345686	D	RGD:9068941	20211105	RGD		DNA:SNP:promoter:g.-251A>T (rs4073) (human)	PMID:20015396|REF_RGD_ID:150520200
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:11394	adult respiratory distress syndrome	severity	ISO	RGD:1345686	D	RGD:9068941	20211126	RGD		associated with toxic shock syndrome;DNA:SNP:promoter:g.-251A>T (human)	PMID:22897124|REF_RGD_ID:150523785
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:11934	head and neck cancer	exacerbates	ISO	RGD:1345686	D	RGD:9068941	20211022	RGD		mRNA:increased expression:head, neck (human)	PMID:31452775|REF_RGD_ID:150520018
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:1205	allergic disease		ISO	RGD:1617608	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:12053	cryptococcosis		ISO	RGD:1617608	D	RGD:9068941	20200827	RGD		mRNA:increased expression:lung (mouse)	PMID:27596810|REF_RGD_ID:38549345
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:21731723|REF_RGD_ID:26884357
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:12351	alcoholic hepatitis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26220752
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1345686	D	RGD:9068941	20211112	RGD		protein:increased expression:nasopharynx(human)	PMID:29325581|REF_RGD_ID:150521551
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:13078	eumycotic mycetoma		ISO	RGD:1345686	D	RGD:9068941	20211126	RGD		DNA:SNP:promoter:g.-251T>A (human)	PMID:17709521|REF_RGD_ID:150523787
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:1324	lung cancer		ISO	RGD:1345686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:13241	Behcet's disease		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8712863
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:13272	Klebsiella pneumonia		ISO	RGD:1617608	D	RGD:9068941	20200827	RGD			PMID:11207292|REF_RGD_ID:38549344
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:13580	cholestasis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21224055
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:13608	biliary atresia		ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:24493287|REF_RGD_ID:26884361
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:13976	peptic esophagitis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18193101
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:14250	Down syndrome		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16289943
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15956251
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1345686	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674|PMID:28377727
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:1793	pancreatic cancer		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18307536
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:1852	intrahepatic cholestasis		ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:24493287|REF_RGD_ID:26884361
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:1883	hepatitis C		ISO	RGD:1345686	D	RGD:9068941	20211112	RGD		protein:increased expression:blood serum (human)	PMID:28163109|REF_RGD_ID:150521548
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:2272	vulvovaginal candidiasis		ISO	RGD:1345686	D	RGD:9068941	20211126	RGD		associated with human immunodeficiency virus infectious disease;protein:increased expression:vaginal fluid (human)	PMID:18243333|REF_RGD_ID:150523783
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:2377	multiple sclerosis		ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20138139|REF_RGD_ID:5134999
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:2755	Mycobacterium avium complex disease		ISO	RGD:1345686	D	RGD:9068941	20211126	RGD		protein:increased expression:blood plasma, erythrocyte (human)	PMID:26300588|REF_RGD_ID:11250849
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:289	endometriosis		ISO	RGD:1345686	D	RGD:9068941	20211112	RGD		protein:increased expression:peritoneal fluid (human)	PMID:25704572|PMID:29962266|REF_RGD_ID:150520017|REF_RGD_ID:150521547
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:2921	glomerulonephritis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10910440|PMID:9403216
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1345686	D	RGD:9068941	20200625	RGD		protein:increased expression:plasma (human)	PMID:14514395|REF_RGD_ID:30309961
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1345686	D	RGD:9068941	20200702	RGD		protein:increased expression:bronchoalveolar lavage (human)	PMID:15888207|REF_RGD_ID:34201108
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1345686	D	RGD:9068941	20200709	RGD		protein:increased expression:serum (human)	PMID:15271897|REF_RGD_ID:32716401
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (human)	PMID:19635508|REF_RGD_ID:5490168
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:1345686	D	RGD:9068941	20200702	RGD		protein:increased expression:blood (human)	PMID:15472864|REF_RGD_ID:34888224
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:2945	severe acute respiratory syndrome	severity	ISO	RGD:1345686	D	RGD:9068941	20200619	RGD		protein:increased expression:plasma (human)	PMID:16195357|REF_RGD_ID:30309218
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:2945	severe acute respiratory syndrome	severity	ISO	RGD:1345686	D	RGD:9068941	20200619	RGD		protein:increased expression:serum (human)	PMID:15657466|REF_RGD_ID:30309219
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:2945	severe acute respiratory syndrome	treatment	ISO	RGD:1345686	D	RGD:9068941	20200702	RGD			PMID:15865221|REF_RGD_ID:33769580
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1345686	D	RGD:9068941	20201029	RGD		protein:increased expression:serum (human)	PMID:16001981|REF_RGD_ID:39939055
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:2957	pulmonary tuberculosis	exacerbates	ISO	RGD:1345686	D	RGD:9068941	20211126	RGD		RNA:increased expression:blood plasma (human)	PMID:27434276|REF_RGD_ID:150523784
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:299	adenocarcinoma		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18307536
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:3068	glioblastoma		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16356833
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15337792|PMID:23099361|PMID:28864214
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:321	HTLV-1-associated myelopathy/tropical spastic paraparesis	severity	ISO	RGD:1345686	D	RGD:9068941	20201022	RGD		protein:increased expression:plasma (human)	PMID:26800845|REF_RGD_ID:39939014
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:3275	thymoma		ISO	RGD:1345686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:3748	esophagus squamous cell carcinoma	severity	ISO	RGD:1345686	D	RGD:9068941	20211022	RGD		mRNA:increased expression:esophagus (human)	PMID:31423201|REF_RGD_ID:150520019
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17266442|PMID:17894541
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:1345686	D	RGD:9068941	20211105	RGD		human recombinant protein in a mouse model	PMID:28011398|REF_RGD_ID:150520199
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15956251
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:399	tuberculosis		ISO	RGD:1345686	D	RGD:9068941	20211126	RGD		protein:increased expression:blood plasma, erythrocyte (human)	PMID:26300588|REF_RGD_ID:11250849
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:399	tuberculosis	susceptibility	ISO	RGD:1345686	D	RGD:9068941	20211105	RGD		DNA:SNP:promoter:-251A>T (human)	PMID:32393145|REF_RGD_ID:150520198
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:4029	gastritis	disease_progression	ISO	RGD:1345686	D	RGD:9068941	20211126	RGD		associated with Helicobacter Infections;DNA:SNP:promoter:g.-251T>A (human)	PMID:20380014|REF_RGD_ID:150523786
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:4033	bacterial gastritis	susceptibility	ISO	RGD:1345686	D	RGD:9068941	20210129	RGD		associated with Helicobacter Infections;DNA:SNP:promoter: -251T>A (rs4073) (human)	PMID:31522447|REF_RGD_ID:40925938
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:4677	keratitis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23661603
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345686	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:18550579
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1345686	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:5082	liver cirrhosis		ISO	RGD:1617608	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15763341
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:5082	liver cirrhosis	disease_progression	ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver, serum (human)	PMID:21731723|REF_RGD_ID:26884357
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1345686	D	RGD:9068941	20200806	RGD		associated with pleural tuberculosis;	PMID:21303360|REF_RGD_ID:36947878
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1345686	D	RGD:9068941	20211112	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:31217522|REF_RGD_ID:150521549
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:5517	stomach carcinoma	susceptibility	ISO	RGD:1345686	D	RGD:9068941	20210129	RGD		associated with Helicobacter Infections;DNA:SNP:promoter: -251T>A (rs4073) (human)	PMID:31522447|REF_RGD_ID:40925938
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:552	pneumonia		ISO	RGD:1345686	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:552	pneumonia		ISO	RGD:1617608	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:559	acute pyelonephritis	susceptibility	ISO	RGD:1345686	D	RGD:9068941	20211112	RGD		DNA:SNP:promoter:g.-251T>A (rs4073) (human)	PMID:22325052|REF_RGD_ID:7207860
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:5773	oral submucous fibrosis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28984080
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:6000	congestive heart failure		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29959987
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15302794
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:646	viral encephalitis	susceptibility	ISO	RGD:1345686	D	RGD:9068941	20201218	RGD		DNA:SNP:promoter: -251A>T (human)	PMID:25751776|REF_RGD_ID:39939049
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:30523154|REF_RGD_ID:26884364
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345686	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:12432545|PMID:35776891
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (human)	PMID:26078356|REF_RGD_ID:11526468
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:multiple	PMID:24381110|REF_RGD_ID:26884366
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17379860|PMID:19192274
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:8506	bullous pemphigoid		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11359455
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:8506	bullous pemphigoid		ISO	RGD:1617608	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11359455
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18193101|PMID:20616304
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:8557	oropharynx cancer		ISO	RGD:1345686	D	RGD:9068941	20211022	RGD		mRNA:increased expression:head, neck (human)	PMID:31452775|REF_RGD_ID:150520018
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:8574	lichen disease		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18393961
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:8577	ulcerative colitis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12133438|PMID:15955209
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:8618	oral cavity cancer		ISO	RGD:1345686	D	RGD:9068941	20211022	RGD		mRNA:increased expression:head, neck (human)	PMID:31452775|REF_RGD_ID:150520018
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:8805	intermediate coronary syndrome		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10660968
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:8858	tonsil cancer		ISO	RGD:1345686	D	RGD:9068941	20211022	RGD		mRNA:increased expression:head, neck (human)	PMID:31452775|REF_RGD_ID:150520018
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:893	Wilson disease		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25002079
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:1345686	D	RGD:9068941	20201029	RGD			PMID:29655167|REF_RGD_ID:39939058
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9000197	Edema		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19874808
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15492468|PMID:15723263
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9000238	Acute-On-Chronic Liver Failure		ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		Chronic hepatitis B; protein:increased expression:liver, plasma (human)	PMID:27974825|REF_RGD_ID:26884362
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9000238	Acute-On-Chronic Liver Failure		ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		associated with liver cirrhosis;protein:increased expression:plasma (human)	PMID:29476704|REF_RGD_ID:26884367
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9000972	Fever		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11852909
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9001109	Anorexia	susceptibility	ISO	RGD:1345686	D	RGD:9068941	20211126	RGD		DNA:SNP:promoter:g.-251A>T	PMID:24076593|REF_RGD_ID:150523788
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9001414	Neurosyphilis	treatment	ISO	RGD:1345686	D	RGD:9068941	20201029	RGD			PMID:27650493|REF_RGD_ID:39939071
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24894820
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10401557|PMID:7881729
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16606632|PMID:17606477
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29959987
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9002512	Postherpetic Neuralgia		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11280320
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19401270|PMID:21742513
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9003688	Toxoplasma Chorioretinitis	severity	ISO	RGD:1345686	D	RGD:9068941	20201029	RGD		protein:increased expression:serum (human)	PMID:17488320|REF_RGD_ID:39939053
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12865660
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:1345686	D	RGD:9068941	20211112	RGD			PMID:21554996|REF_RGD_ID:150521553
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9004422	Chagas Cardiomyopathy	disease_progression	ISO	RGD:1345686	D	RGD:9068941	20211022	RGD		DNA:SNP:promoter:g.-251A>T (rs4073) (human)	PMID:22537745|REF_RGD_ID:39939013
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9004443	Intractable Pain		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11280320
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9004484	Sepsis	exacerbates	ISO	RGD:1345686	D	RGD:9068941	20211105	RGD		protein:increased expression:blood plasma (human)	PMID:31818332|REF_RGD_ID:40924635
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26037280
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1345686	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:32512068
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9004610	Acute Lung Injury	disease_progression	ISO	RGD:1345686	D	RGD:9068941	20210129	RGD		associated with sepsis;protein:increased expression:blood serum (human)	PMID:28506137|REF_RGD_ID:40925937
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9005099	Salmonella Infections, Animal		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29421334
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9005372	Inflammation		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20578705|PMID:24795235
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9005473	Bacterial Eye Infections		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23661603
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9005882	Spine Osteoarthritis		ISO	RGD:1345686	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34697729
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9006549	Enterovirus Infections	severity	ISO	RGD:1345686	D	RGD:9068941	20211105	RGD		DNA:SNP:intron:g.+781C>T (human)	PMID:24609754|REF_RGD_ID:150520201
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9006618	Liver Metastasis		ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		associated with colorectal cancer; human colon adenocarcinoma cells in a mouse model	PMID:29679563|REF_RGD_ID:26884358
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9006684	Inflammatory Breast Neoplasms		ISO	RGD:1345686	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:32512068
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:1345686	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:32512068
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1345686	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:31557154
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9006939	Lyme Neuroborreliosis	treatment	ISO	RGD:1345686	D	RGD:9068941	20201029	RGD			PMID:24239846|REF_RGD_ID:39939054
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9007346	Cachexia		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17878525
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9007417	Pseudomonas Infections	treatment	ISO	RGD:1617608	D	RGD:9068941	20200702	RGD			PMID:27175332|REF_RGD_ID:32733623
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22015448
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17380299
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9007874	Liver Failure	disease_progression	ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		associated with transient myeloproliferative syndrome and  Down syndrome;protein:increased expression:serum (human)	PMID:30314728|REF_RGD_ID:26884360
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9008	psoriatic arthritis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19732956
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:1617608	D	RGD:9068941	20200827	RGD		associated with gastritis;mRNA:increased expression:stomach (mouse, Helicobacter felis)	PMID:17242461|REF_RGD_ID:38549339
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9008114	Helicobacter Infections	disease_progression	ISO	RGD:1617608	D	RGD:9068941	20200828	RGD		mRNA:altered expression:gastric antrum (mouse)	PMID:29085807|REF_RGD_ID:38549349
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1345686	D	RGD:9068941	20211105	RGD		associated with liver disease;mRNA, protein:increased expression:liver, blood serum (human)	PMID:23890815|REF_RGD_ID:150520196
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9008163	Chronic Hepatitis B	severity	ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:serum, peripheral blood mononuclear cell (human)	PMID:26265888|REF_RGD_ID:11075958
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20065508
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9008559	Bacterial Lung Diseases	severity	ISO	RGD:1345686	D	RGD:9068941	20210129	RGD		protein:increased expression:nasal mucus (human)	PMID:24211414|REF_RGD_ID:40925940
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9008885	Staphylococcal Infections		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23661603
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037|PMID:17516992
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20102417
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22461696
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9146	visceral leishmaniasis	susceptibility	ISO	RGD:1345686	D	RGD:9068941	20211126	RGD		DNA:SNP:promoter:g.-251A>T (human)	PMID:25821028|REF_RGD_ID:150523789
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9146	visceral leishmaniasis	treatment	ISO	RGD:1345686	D	RGD:9068941	20211126	RGD			PMID:32984951|REF_RGD_ID:150523791
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9206	Barrett's esophagus		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15387324
8772136	Cxcl8	C-X-C motif chemokine ligand 8	gene	DOID:9452	steatotic liver disease		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23348005
8772168	Trpm6	transient receptor potential cation channel subfamily M member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8772168	Trpm6	transient receptor potential cation channel subfamily M member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8772168	Trpm6	transient receptor potential cation channel subfamily M member 6	gene	DOID:0060879	primary hypomagnesemia		ISO	RGD:1320558	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hypomagnesemia	PMID:25741868|PMID:28492532
8772168	Trpm6	transient receptor potential cation channel subfamily M member 6	gene	DOID:0060883	intestinal hypomagnesemia 1		ISO	RGD:1320558	D	RGD:7240710	20180130	OMIM			
8772168	Trpm6	transient receptor potential cation channel subfamily M member 6	gene	DOID:0060883	intestinal hypomagnesemia 1		ISO	RGD:1320558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA | ClinVar Annotator: match by term: HYPOMAGNESEMIC TETANY | ClinVar Annotator: match by term: Hypomagnesemia 1, intestinal | ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 | ClinVar Annotator: match by term: TRPM6-related condition	PMID:12032568|PMID:12032570|PMID:16107578|PMID:24030239|PMID:25741868|PMID:26813946|PMID:28492532|PMID:33565749|PMID:34906502|PMID:40794449
8772168	Trpm6	transient receptor potential cation channel subfamily M member 6	gene	DOID:10534	stomach cancer		ISO	RGD:1320558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8772168	Trpm6	transient receptor potential cation channel subfamily M member 6	gene	DOID:1115	sarcoma		ISO	RGD:1320558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8772168	Trpm6	transient receptor potential cation channel subfamily M member 6	gene	DOID:1826	epilepsy		ISO	RGD:1320558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8772168	Trpm6	transient receptor potential cation channel subfamily M member 6	gene	DOID:1909	melanoma		ISO	RGD:1320558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8772168	Trpm6	transient receptor potential cation channel subfamily M member 6	gene	DOID:4362	cervical cancer		ISO	RGD:1320558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8772168	Trpm6	transient receptor potential cation channel subfamily M member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1320558	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8772168	Trpm6	transient receptor potential cation channel subfamily M member 6	gene	DOID:630	genetic disease		ISO	RGD:1320558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33565749
8772168	Trpm6	transient receptor potential cation channel subfamily M member 6	gene	DOID:896	metal metabolism disorder		ISO	RGD:1320558	D	RGD:9068941	20200609	RGD		hypomagnesemia with secondary hypocalcemia, OMIM:602014	PMID:12032568|REF_RGD_ID:1599669
8772168	Trpm6	transient receptor potential cation channel subfamily M member 6	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1320558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:32581362
8772168	Trpm6	transient receptor potential cation channel subfamily M member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8772222	Mettl25b	methyltransferase like 25B	gene	DOID:1324	lung cancer		ISO	RGD:1603041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8772222	Mettl25b	methyltransferase like 25B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8772222	Mettl25b	methyltransferase like 25B	gene	DOID:2394	ovarian cancer		ISO	RGD:1603041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8772222	Mettl25b	methyltransferase like 25B	gene	DOID:3070	high grade glioma		ISO	RGD:1603041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8772222	Mettl25b	methyltransferase like 25B	gene	DOID:3275	thymoma		ISO	RGD:1603041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8772222	Mettl25b	methyltransferase like 25B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772222	Mettl25b	methyltransferase like 25B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8772237	Thra	thyroid hormone receptor alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8772237	Thra	thyroid hormone receptor alpha	gene	DOID:0070128	congenital nongoitrous hypothyroidism 6		ISO	RGD:736295	D	RGD:7240710	20180130	OMIM			
8772237	Thra	thyroid hormone receptor alpha	gene	DOID:0070128	congenital nongoitrous hypothyroidism 6		ISO	RGD:736295	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital nongoitrous hypothyroidism 6 | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 | ClinVar Annotator: match by term: THRA-related condition	PMID:24969835|PMID:25670821|PMID:25741868|PMID:26812777|PMID:28492532|PMID:28932413|PMID:30747412|PMID:30817817|PMID:32349464|PMID:33509032|PMID:33628462|PMID:7501015
8772237	Thra	thyroid hormone receptor alpha	gene	DOID:1115	sarcoma		ISO	RGD:736295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8772237	Thra	thyroid hormone receptor alpha	gene	DOID:11633	thyroid hormone resistance syndrome		ISO	RGD:11415	D	RGD:9068941	20220825	MouseDO		OMIM:188570 | OMIM:274300	
8772237	Thra	thyroid hormone receptor alpha	gene	DOID:1324	lung cancer		ISO	RGD:736295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8772237	Thra	thyroid hormone receptor alpha	gene	DOID:1459	hypothyroidism		ISO	RGD:736295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25670821|PMID:25741868|PMID:26812777|PMID:28932413|PMID:32349464|PMID:33509032
8772237	Thra	thyroid hormone receptor alpha	gene	DOID:1612	breast cancer		ISO	RGD:736295	D	RGD:9068941	20200609	RGD			PMID:12082618|REF_RGD_ID:2315096
8772237	Thra	thyroid hormone receptor alpha	gene	DOID:289	endometriosis		ISO	RGD:736295	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
8772237	Thra	thyroid hormone receptor alpha	gene	DOID:3070	high grade glioma		ISO	RGD:736295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8772237	Thra	thyroid hormone receptor alpha	gene	DOID:4362	cervical cancer		ISO	RGD:736295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8772237	Thra	thyroid hormone receptor alpha	gene	DOID:4450	renal cell carcinoma		ISO	RGD:736295	D	RGD:9068941	20200609	RGD		DNA:mutations (human)	PMID:11756220|REF_RGD_ID:2315097
8772237	Thra	thyroid hormone receptor alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8772237	Thra	thyroid hormone receptor alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772237	Thra	thyroid hormone receptor alpha	gene	DOID:630	genetic disease		ISO	RGD:736295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22168587|PMID:22494134|PMID:24969835|PMID:25670821|PMID:25741868|PMID:26812777|PMID:28932413|PMID:30842990|PMID:32204686|PMID:32349464|PMID:33509032
8772237	Thra	thyroid hormone receptor alpha	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:736295	D	RGD:9068941	20251106	CTD		CTD Direct Evidence: marker/mechanism	PMID:29753845
8772237	Thra	thyroid hormone receptor alpha	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:736295	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8772237	Thra	thyroid hormone receptor alpha	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:3857	D	RGD:9068941	20200609	RGD		associated with Myocardial Infarction;protein:increased expression:heart	PMID:17389455|REF_RGD_ID:2314321
8772237	Thra	thyroid hormone receptor alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8772237	Thra	thyroid hormone receptor alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8772237	Thra	thyroid hormone receptor alpha	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:736295	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11685700
8772249	Gpr89a	G protein-coupled receptor 89A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:625785787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8772249	Gpr89a	G protein-coupled receptor 89A	gene	DOID:10534	stomach cancer		ISO	RGD:625785787	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8772249	Gpr89a	G protein-coupled receptor 89A	gene	DOID:1324	lung cancer		ISO	RGD:625785787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8772249	Gpr89a	G protein-coupled receptor 89A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:625785787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8772249	Gpr89a	G protein-coupled receptor 89A	gene	DOID:4362	cervical cancer		ISO	RGD:625785787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8772249	Gpr89a	G protein-coupled receptor 89A	gene	DOID:5041	esophageal cancer		ISO	RGD:625785787	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8772249	Gpr89a	G protein-coupled receptor 89A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:625785787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8772249	Gpr89a	G protein-coupled receptor 89A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:625785787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8772282	Pim3	Pim-3 proto-oncogene, serine/threonine kinase	gene	DOID:1909	melanoma		ISO	RGD:1344275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8772282	Pim3	Pim-3 proto-oncogene, serine/threonine kinase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1344275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8772282	Pim3	Pim-3 proto-oncogene, serine/threonine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8772282	Pim3	Pim-3 proto-oncogene, serine/threonine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8772294	Gng12	G protein subunit gamma 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772294	Gng12	G protein subunit gamma 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8772304	Prr29	proline rich 29	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772321	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:0112071	nuclear type mitochondrial complex I deficiency 31		ISO	RGD:1351318	D	RGD:7240710	20190315	OMIM			
8772321	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:0112071	nuclear type mitochondrial complex I deficiency 31		ISO	RGD:1351318	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 31 | ClinVar Annotator: match by term: TIMMDC1-related condition	PMID:25741868|PMID:28492532|PMID:28604674|PMID:33278652|PMID:33586140|PMID:33852835|PMID:35091571|PMID:35379322
8772321	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1351318	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:25741868|PMID:28492532
8772321	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8772321	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8772321	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8772321	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8772321	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8772321	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:3652	Leigh disease		ISO	RGD:1351318	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868
8772321	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8772321	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1351318	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8772321	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772321	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8772321	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8772321	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8772321	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8772321	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8772337	Snx27	sorting nexin 27	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8772337	Snx27	sorting nexin 27	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1349647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular heterotopia	PMID:28492532
8772337	Snx27	sorting nexin 27	gene	DOID:0051092	Damseh-Danson neurodevelopmental disorder		ISO	RGD:1349647	D	RGD:7240710	20260701	OMIM			
8772337	Snx27	sorting nexin 27	gene	DOID:0051092	Damseh-Danson neurodevelopmental disorder		ISO	RGD:1349647	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DAMSEH-DANSON NEURODEVELOPMENTAL DISORDER	PMID:31721175
8772337	Snx27	sorting nexin 27	gene	DOID:0080422	Dravet syndrome		ISO	RGD:1349647	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy	PMID:17576681|PMID:25894286|PMID:28492532|PMID:31957018|PMID:9536098
8772337	Snx27	sorting nexin 27	gene	DOID:0080422	Dravet syndrome		ISO	RGD:1349647	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy	PMID:16199547|PMID:17576681|PMID:25741868|PMID:25894286|PMID:28492532|PMID:31957018|PMID:9536098
8772337	Snx27	sorting nexin 27	gene	DOID:10534	stomach cancer		ISO	RGD:1349647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8772337	Snx27	sorting nexin 27	gene	DOID:12849	autistic disorder		ISO	RGD:1349647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:28492532
8772337	Snx27	sorting nexin 27	gene	DOID:1324	lung cancer		ISO	RGD:1349647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8772337	Snx27	sorting nexin 27	gene	DOID:1909	melanoma		ISO	RGD:1349647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8772337	Snx27	sorting nexin 27	gene	DOID:2394	ovarian cancer		ISO	RGD:1349647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8772337	Snx27	sorting nexin 27	gene	DOID:3275	thymoma		ISO	RGD:1349647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8772337	Snx27	sorting nexin 27	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8772337	Snx27	sorting nexin 27	gene	DOID:5041	esophageal cancer		ISO	RGD:1349647	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8772337	Snx27	sorting nexin 27	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8772337	Snx27	sorting nexin 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772337	Snx27	sorting nexin 27	gene	DOID:630	genetic disease		ISO	RGD:1349647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8772337	Snx27	sorting nexin 27	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8772337	Snx27	sorting nexin 27	gene	DOID:9000918	Disease Progression		ISO	RGD:1349647	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:36029209
8772337	Snx27	sorting nexin 27	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1349647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
8772337	Snx27	sorting nexin 27	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1349647	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:36029209
8772337	Snx27	sorting nexin 27	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:28492532
8772337	Snx27	sorting nexin 27	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8772337	Snx27	sorting nexin 27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8772337	Snx27	sorting nexin 27	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8772389	Pacc1	proton activated chloride channel 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8772389	Pacc1	proton activated chloride channel 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8772389	Pacc1	proton activated chloride channel 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8772389	Pacc1	proton activated chloride channel 1	gene	DOID:1909	melanoma		ISO	RGD:1602479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8772389	Pacc1	proton activated chloride channel 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602479	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8772389	Pacc1	proton activated chloride channel 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772389	Pacc1	proton activated chloride channel 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602479	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8772389	Pacc1	proton activated chloride channel 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8772389	Pacc1	proton activated chloride channel 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8772389	Pacc1	proton activated chloride channel 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8772389	Pacc1	proton activated chloride channel 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1602479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8772410	Katnal1	katanin catalytic subunit A1 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8772410	Katnal1	katanin catalytic subunit A1 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8772410	Katnal1	katanin catalytic subunit A1 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8772410	Katnal1	katanin catalytic subunit A1 like 1	gene	DOID:3275	thymoma		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8772410	Katnal1	katanin catalytic subunit A1 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772410	Katnal1	katanin catalytic subunit A1 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8772410	Katnal1	katanin catalytic subunit A1 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8772410	Katnal1	katanin catalytic subunit A1 like 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8772433	Oser1	oxidative stress responsive serine rich 1	gene	DOID:10534	stomach cancer		ISO	RGD:1350756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8772433	Oser1	oxidative stress responsive serine rich 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772433	Oser1	oxidative stress responsive serine rich 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8772433	Oser1	oxidative stress responsive serine rich 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:0080562	congenital disorder of glycosylation Ij		ISO	RGD:1349923	D	RGD:7240710	20180130	OMIM			
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:0080562	congenital disorder of glycosylation Ij		ISO	RGD:1349923	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CDG Ij | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J	PMID:18414213|PMID:22742743|PMID:23430862|PMID:24759841|PMID:25741868|PMID:28492532|PMID:28662078|PMID:28712839|PMID:30117111|PMID:30388443|PMID:31153949
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:0080690	RASopathy		ISO	RGD:1349923	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:22742743|PMID:28492532
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:0110676	congenital myasthenic syndrome 13		ISO	RGD:1349923	D	RGD:7240710	20180130	OMIM			
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:0110676	congenital myasthenic syndrome 13		ISO	RGD:1349923	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 13 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 13 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates	PMID:12872255|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22742743|PMID:22786653|PMID:23249953|PMID:23430862|PMID:23591138|PMID:24759841|PMID:25500013|PMID:25741868|PMID:28454995|PMID:28492532|PMID:28662078|PMID:28712839|PMID:30117111|PMID:30388443|PMID:31127727|PMID:31153949|PMID:37721175|PMID:38443029|PMID:9536098
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:22742743|PMID:28492532|PMID:30117111
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:1115	sarcoma		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:22742743|PMID:28492532|PMID:30117111
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:1143	exotropia		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:22742743|PMID:28492532|PMID:30117111
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:11782	astigmatism		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:22742743|PMID:28492532|PMID:30117111
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:22742743|PMID:25741868|PMID:28492532|PMID:30388443|PMID:37721175|PMID:38443029
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:1826	epilepsy		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22742743|PMID:28492532|PMID:30117111
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:1349923	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1349923	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: congenital disorder of glycosylation	PMID:12872255|PMID:22742743|PMID:23806237|PMID:25741868|PMID:28492532|PMID:30117111|PMID:31589614|PMID:33743358
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:535	sleep disorder		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:22742743|PMID:25741868|PMID:28492532|PMID:30388443|PMID:37721175|PMID:38443029
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22742743|PMID:25741868|PMID:28492532|PMID:30117111
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:22742743|PMID:28492532|PMID:30117111
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1349923	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1349923	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:22742743|PMID:25741868|PMID:28492532|PMID:30388443|PMID:37721175|PMID:38443029
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9002092	Tubular Aggregate Myopathies		ISO	RGD:1349923	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Myopathy with tubular aggregates	PMID:25741868|PMID:38124360
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9004595	Diastema		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diastema	PMID:22742743|PMID:28492532|PMID:30117111
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349923	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:22742743|PMID:28492532|PMID:30117111
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22742743|PMID:28492532|PMID:30117111
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1349923	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9834	hyperopia		ISO	RGD:1349923	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:22742743|PMID:28492532|PMID:30117111
8772452	Dpagt1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9993	hypoglycemia		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:22742743|PMID:25741868|PMID:28492532|PMID:30388443|PMID:37721175|PMID:38443029
8772465	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8772465	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:0111614	autosomal recessive spinocerebellar ataxia 22		ISO	RGD:1603168	D	RGD:7240710	20190315	OMIM			
8772465	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:0111614	autosomal recessive spinocerebellar ataxia 22		ISO	RGD:1603168	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 22 | ClinVar Annotator: match by term: VWA3B-related condition	PMID:25741868|PMID:28492532
8772465	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:1909	melanoma		ISO	RGD:1603168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8772465	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:3070	high grade glioma		ISO	RGD:1603168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8772465	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:3275	thymoma		ISO	RGD:1603168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8772465	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:4362	cervical cancer		ISO	RGD:1603168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8772465	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8772465	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603168	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8772465	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:5041	esophageal cancer		ISO	RGD:1603168	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8772465	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772465	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1603168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8772465	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8772531	Tmem106a	transmembrane protein 106A	gene	DOID:0080600	COVID-19		ISO	RGD:1603282	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8772531	Tmem106a	transmembrane protein 106A	gene	DOID:1909	melanoma		ISO	RGD:1603282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8772531	Tmem106a	transmembrane protein 106A	gene	DOID:440	neuromuscular disease		ISO	RGD:1603282	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
8772531	Tmem106a	transmembrane protein 106A	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603282	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532
8772531	Tmem106a	transmembrane protein 106A	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603282	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532|PMID:38922859
8772531	Tmem106a	transmembrane protein 106A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772531	Tmem106a	transmembrane protein 106A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8772531	Tmem106a	transmembrane protein 106A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603282	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8772544	Cfl2	cofilin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8772544	Cfl2	cofilin 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1315906	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
8772544	Cfl2	cofilin 2	gene	DOID:0110934	nemaline myopathy 7		ISO	RGD:1315906	D	RGD:7240710	20180130	OMIM			
8772544	Cfl2	cofilin 2	gene	DOID:0110934	nemaline myopathy 7		ISO	RGD:1315906	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEMALINE MYOPATHY 7 | ClinVar Annotator: match by term: Nemaline myopathy 7	PMID:17576681|PMID:22560515|PMID:24610938|PMID:25741868|PMID:27447704|PMID:28492532|PMID:29457652|PMID:9536098
8772544	Cfl2	cofilin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8772544	Cfl2	cofilin 2	gene	DOID:1115	sarcoma		ISO	RGD:1315906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
8772544	Cfl2	cofilin 2	gene	DOID:630	genetic disease		ISO	RGD:1315906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8772544	Cfl2	cofilin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8772544	Cfl2	cofilin 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1315906	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:28492532
8772544	Cfl2	cofilin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8772562	Pik3c2g	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma	gene	DOID:10534	stomach cancer		ISO	RGD:735800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8772562	Pik3c2g	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma	gene	DOID:3275	thymoma		ISO	RGD:735800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8772562	Pik3c2g	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma	gene	DOID:3393	coronary artery disease		ISO	RGD:735800	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Premature coronary artery atherosclerosis	PMID:25741868
8772562	Pik3c2g	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma	gene	DOID:4297	scimitar syndrome		ISO	RGD:735800	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: total anomalous pulmonary venous return	PMID:32641753
8772562	Pik3c2g	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8772562	Pik3c2g	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772562	Pik3c2g	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8772562	Pik3c2g	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8772562	Pik3c2g	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:735800	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:437C>T(human)	PMID:17991425|REF_RGD_ID:13506796
8772604	Agmat	agmatinase (putative)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8772604	Agmat	agmatinase (putative)	gene	DOID:1909	melanoma		ISO	RGD:1318183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8772604	Agmat	agmatinase (putative)	gene	DOID:5041	esophageal cancer		ISO	RGD:1318183	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8772604	Agmat	agmatinase (putative)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772604	Agmat	agmatinase (putative)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8772604	Agmat	agmatinase (putative)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:0081219	autosomal recessive intellectual developmental disorder 57		ISO	RGD:1353967	D	RGD:7240710	20190315	OMIM			
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:0081219	autosomal recessive intellectual developmental disorder 57		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 57 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 57 | ClinVar Annotator: match by term: MBOAT7-related condition	PMID:25741868|PMID:27616480
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:10534	stomach cancer		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:1059	intellectual disability		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual Disability | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:27616480|PMID:30167849|PMID:31852446|PMID:33335874
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:1059	intellectual disability		ISO	RGD:1353967	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual Disability | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:10907	microcephaly		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:10908	hydrocephalus		ISO	RGD:1551274	D	RGD:9068941	20220825	MouseDO		OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:12849	autistic disorder		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:1353967	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26482880
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:1826	epilepsy		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:1909	melanoma		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:2340	craniosynostosis		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:4362	cervical cancer		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:540	strabismus		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:630	genetic disease		ISO	RGD:1353967	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874|PMID:36413997
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9000052	Breech Presentation		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breech presentation	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9000495	Tremor		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mental deterioration	PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1353967	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9004538	Hearing Loss		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:24033266|PMID:25741868
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9007573	Flatfoot		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9007661	Dwarfism		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9007722	Myoclonus		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:93	language disorder		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:963	episodic ataxia		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary episodic ataxia	
8772618	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9834	hyperopia		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
8772632	Cerk	ceramide kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8772632	Cerk	ceramide kinase	gene	DOID:1115	sarcoma		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8772632	Cerk	ceramide kinase	gene	DOID:1324	lung cancer		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8772632	Cerk	ceramide kinase	gene	DOID:1909	melanoma		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8772632	Cerk	ceramide kinase	gene	DOID:3275	thymoma		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8772632	Cerk	ceramide kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8772632	Cerk	ceramide kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8772632	Cerk	ceramide kinase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8772632	Cerk	ceramide kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1312799	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8772632	Cerk	ceramide kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772632	Cerk	ceramide kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8772632	Cerk	ceramide kinase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1312799	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8772632	Cerk	ceramide kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8772632	Cerk	ceramide kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8772632	Cerk	ceramide kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8772653	Heatr3	HEAT repeat containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8772653	Heatr3	HEAT repeat containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8772653	Heatr3	HEAT repeat containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8772653	Heatr3	HEAT repeat containing 3	gene	DOID:3070	high grade glioma		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8772653	Heatr3	HEAT repeat containing 3	gene	DOID:3275	thymoma		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8772653	Heatr3	HEAT repeat containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8772653	Heatr3	HEAT repeat containing 3	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8772653	Heatr3	HEAT repeat containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772653	Heatr3	HEAT repeat containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8772653	Heatr3	HEAT repeat containing 3	gene	DOID:9002367	Diamond-Blackfan Anemia 21		ISO	RGD:1602884	D	RGD:7240710	20221102	OMIM			
8772653	Heatr3	HEAT repeat containing 3	gene	DOID:9002367	Diamond-Blackfan Anemia 21		ISO	RGD:1602884	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 21 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 21	PMID:25741868
8772653	Heatr3	HEAT repeat containing 3	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8772653	Heatr3	HEAT repeat containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8772653	Heatr3	HEAT repeat containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8772653	Heatr3	HEAT repeat containing 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8772672	Smg8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8772672	Smg8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:1324	lung cancer		ISO	RGD:1602698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8772672	Smg8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:1909	melanoma		ISO	RGD:1602698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8772672	Smg8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:4362	cervical cancer		ISO	RGD:1602698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8772672	Smg8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772672	Smg8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:630	genetic disease		ISO	RGD:1602698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:37194129
8772672	Smg8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:9005217	ALZAHRANI-KUWAHARA SYNDROME		ISO	RGD:1602698	D	RGD:7240710	20210512	OMIM			
8772672	Smg8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:9005217	ALZAHRANI-KUWAHARA SYNDROME		ISO	RGD:1602698	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALZAHRANI-KUWAHARA SYNDROME | ClinVar Annotator: match by term: Alzahrani-Kuwahara syndrome | ClinVar Annotator: match by term: SMG8-related disorder	PMID:25741868
8772672	Smg8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:9256	colorectal cancer		ISO	RGD:1602698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8772683	Gdf9	growth differentiation factor 9	gene	DOID:0080871	primary ovarian insufficiency 14		ISO	RGD:736579	D	RGD:7240710	20190315	OMIM			
8772683	Gdf9	growth differentiation factor 9	gene	DOID:0080871	primary ovarian insufficiency 14		ISO	RGD:736579	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GDF9-related condition | ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 14 | ClinVar Annotator: match by term: Premature ovarian failure 14	PMID:25741868|PMID:34008892
8772683	Gdf9	growth differentiation factor 9	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:736579	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868
8772683	Gdf9	growth differentiation factor 9	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:736579	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22825968
8772683	Gdf9	growth differentiation factor 9	gene	DOID:5041	esophageal cancer		ISO	RGD:736579	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8772683	Gdf9	growth differentiation factor 9	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:736579	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
8772683	Gdf9	growth differentiation factor 9	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736579	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	
8772683	Gdf9	growth differentiation factor 9	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736579	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868
8772683	Gdf9	growth differentiation factor 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8772690	Tmem17	transmembrane protein 17	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1321545	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	
8772690	Tmem17	transmembrane protein 17	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1321545	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	
8772690	Tmem17	transmembrane protein 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8772690	Tmem17	transmembrane protein 17	gene	DOID:0060316	orofaciodigital syndrome I		ISO	RGD:1321545	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Orofaciodigital syndrome I	PMID:25741868|PMID:26982032
8772690	Tmem17	transmembrane protein 17	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1321545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica	
8772690	Tmem17	transmembrane protein 17	gene	DOID:10907	microcephaly		ISO	RGD:1321545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
8772690	Tmem17	transmembrane protein 17	gene	DOID:1148	polydactyly		ISO	RGD:1321545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	
8772690	Tmem17	transmembrane protein 17	gene	DOID:1909	melanoma		ISO	RGD:1321545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8772690	Tmem17	transmembrane protein 17	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8772690	Tmem17	transmembrane protein 17	gene	DOID:9000983	Encephalocele		ISO	RGD:1321545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Occipital encephalocele	
8772690	Tmem17	transmembrane protein 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8772690	Tmem17	transmembrane protein 17	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1321545	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
8772718	Atp5f1e	ATP synthase F1 subunit epsilon	gene	DOID:0060332	mitochondrial complex V (ATP synthase) deficiency nuclear type 3		ISO	RGD:1346801	D	RGD:7240710	20180130	OMIM			
8772718	Atp5f1e	ATP synthase F1 subunit epsilon	gene	DOID:9000392	Fluoride Poisoning		ISO	RGD:621374	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:heart, mitochondrion (rat)	PMID:21251948|REF_RGD_ID:5131501
8772730	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8772730	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8772730	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:10534	stomach cancer		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8772730	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:1115	sarcoma		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8772730	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:1324	lung cancer		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8772730	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:1909	melanoma		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8772730	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:3275	thymoma		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8772730	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:4362	cervical cancer		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8772730	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8772730	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1316306	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8772730	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772730	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8772730	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8772730	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8772730	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8772730	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8772776	Acrv1	acrosomal vesicle protein 1	gene	DOID:10283	prostate cancer		ISO	RGD:1351105	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8772790	Cib3	calcium and integrin binding family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772801	Itpa	inosine triphosphatase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8772801	Itpa	inosine triphosphatase	gene	DOID:0050591	tooth agenesis		ISO	RGD:1348154	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypodontia	PMID:25741868|PMID:26224535|PMID:28492532|PMID:30542205|PMID:30856165|PMID:34989426
8772801	Itpa	inosine triphosphatase	gene	DOID:0080458	developmental and epileptic encephalopathy 35		ISO	RGD:1348154	D	RGD:7240710	20180130	OMIM			
8772801	Itpa	inosine triphosphatase	gene	DOID:0080458	developmental and epileptic encephalopathy 35		ISO	RGD:1348154	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 35 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 35	PMID:17576681|PMID:25741868|PMID:26224535|PMID:28492532|PMID:30542205|PMID:30856165|PMID:32129147|PMID:34645488|PMID:34989426|PMID:35098521|PMID:38221827|PMID:9536098
8772801	Itpa	inosine triphosphatase	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1348154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy	PMID:25741868|PMID:26224535|PMID:28492532|PMID:32129147|PMID:34645488|PMID:34989426|PMID:35098521
8772801	Itpa	inosine triphosphatase	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1348154	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:26224535
8772801	Itpa	inosine triphosphatase	gene	DOID:1059	intellectual disability		ISO	RGD:1348154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8772801	Itpa	inosine triphosphatase	gene	DOID:11830	myopia		ISO	RGD:1348154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:26224535|PMID:28492532|PMID:34989426|PMID:35098521
8772801	Itpa	inosine triphosphatase	gene	DOID:13714	anodontia		ISO	RGD:1348154	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Partial congenital absence of teeth	PMID:25741868|PMID:26224535|PMID:28492532|PMID:30542205|PMID:30856165|PMID:34989426
8772801	Itpa	inosine triphosphatase	gene	DOID:1588	thrombocytopenia		ISO	RGD:1348154	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18662289
8772801	Itpa	inosine triphosphatase	gene	DOID:1588	thrombocytopenia	treatment	ISO	RGD:1348154	D	RGD:9068941	20200609	RGD		associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human)	PMID:24519039|REF_RGD_ID:10766473
8772801	Itpa	inosine triphosphatase	gene	DOID:1826	epilepsy		ISO	RGD:1348154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8772801	Itpa	inosine triphosphatase	gene	DOID:1827	generalized epilepsy		ISO	RGD:1348154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
8772801	Itpa	inosine triphosphatase	gene	DOID:1883	hepatitis C	disease_progression	ISO	RGD:1348154	D	RGD:9068941	20200609	RGD		DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human)	PMID:24519039|REF_RGD_ID:10766473
8772801	Itpa	inosine triphosphatase	gene	DOID:2355	anemia		ISO	RGD:1348154	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic:DNA:SNP: :rs1127354 (human)	PMID:22571903|REF_RGD_ID:14975306
8772801	Itpa	inosine triphosphatase	gene	DOID:2355	anemia	treatment	ISO	RGD:1348154	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic:DNA:SNPs: :rs7270101, rs1127354 (human)	PMID:26154744|REF_RGD_ID:11074414
8772801	Itpa	inosine triphosphatase	gene	DOID:535	sleep disorder		ISO	RGD:1348154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:28492532
8772801	Itpa	inosine triphosphatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772801	Itpa	inosine triphosphatase	gene	DOID:583	hemolytic anemia		ISO	RGD:1348154	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20547162
8772801	Itpa	inosine triphosphatase	gene	DOID:583	hemolytic anemia	treatment	ISO	RGD:1348154	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic;DNA:SNPs: :rs1127354, rs6051702, rs7270101 (human)	PMID:23933495|REF_RGD_ID:10766479
8772801	Itpa	inosine triphosphatase	gene	DOID:583	hemolytic anemia	treatment	ISO	RGD:1348154	D	RGD:9068941	20200609	RGD		associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human)	PMID:21274861|REF_RGD_ID:10766472
8772801	Itpa	inosine triphosphatase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8772801	Itpa	inosine triphosphatase	gene	DOID:630	genetic disease		ISO	RGD:1348154	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26224535|PMID:28492532|PMID:30856165
8772801	Itpa	inosine triphosphatase	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1348154	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12384777|PMID:20547162
8772801	Itpa	inosine triphosphatase	gene	DOID:7148	rheumatoid arthritis	treatment	ISO	RGD:1348154	D	RGD:9068941	20200609	RGD		DNA:SNP: :94C>A(human)	PMID:29441893|REF_RGD_ID:14975307
8772801	Itpa	inosine triphosphatase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1348154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:26224535|PMID:28492532|PMID:34989426|PMID:35098521
8772801	Itpa	inosine triphosphatase	gene	DOID:9002801	Recurrence		ISO	RGD:1348154	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23029095
8772801	Itpa	inosine triphosphatase	gene	DOID:9003020	Chemotherapy-Induced Febrile Neutropenia		ISO	RGD:1348154	D	RGD:9068941	20200609	RGD		associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human)	PMID:18685564|REF_RGD_ID:10766478
8772801	Itpa	inosine triphosphatase	gene	DOID:9003566	Mesothelioma		ISO	RGD:1348154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8772801	Itpa	inosine triphosphatase	gene	DOID:9003669	Low Back Pain		ISO	RGD:1348154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Low back pain	PMID:25741868|PMID:28492532
8772801	Itpa	inosine triphosphatase	gene	DOID:9004174	Inosine Triphosphatase Deficiency		ISO	RGD:1348154	D	RGD:7240710	20180130	OMIM			
8772801	Itpa	inosine triphosphatase	gene	DOID:9004174	Inosine Triphosphatase Deficiency		ISO	RGD:1348154	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: INOSINE TRIPHOSPHATASE DEFICIENCY | ClinVar Annotator: match by term: INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY | ClinVar Annotator: match by term: Inosine triphosphatase deficiency	PMID:16199547|PMID:17576681|PMID:20173735|PMID:20547162|PMID:20637204|PMID:21246582|PMID:21274861|PMID:21503919|PMID:22992668|PMID:23707372|PMID:23730840|PMID:25741868|PMID:26071337|PMID:26224535|PMID:26438033|PMID:26441325|PMID:26670100|PMID:26916827|PMID:27833958|PMID:28492532|PMID:30542205|PMID:30856165|PMID:32129147|PMID:32405030|PMID:33593863|PMID:34645488|PMID:34989426|PMID:35098521|PMID:38221827|PMID:9536098
8772801	Itpa	inosine triphosphatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8772801	Itpa	inosine triphosphatase	gene	DOID:9007722	Myoclonus		ISO	RGD:1348154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep myoclonus	PMID:25741868|PMID:28492532
8772801	Itpa	inosine triphosphatase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8772801	Itpa	inosine triphosphatase	gene	DOID:9952	acute lymphoblastic leukemia	no_association	ISO	RGD:1348154	D	RGD:9068941	20200609	RGD		DNA:SNP:intron	PMID:22009189|REF_RGD_ID:10766474
8772801	Itpa	inosine triphosphatase	gene	DOID:9952	acute lymphoblastic leukemia	treatment	ISO	RGD:1348154	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon:94C>A, 138G>A (human)	PMID:22009189|REF_RGD_ID:10766474
8772816	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1314941	D	RGD:9068941	20231116	RGD		DNA:SNP:3���-UTR:G>T(rs1640299)(human)	PMID:25495208|REF_RGD_ID:401900681
8772816	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8772816	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314941	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8772816	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1314941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8772816	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:1115	sarcoma		ISO	RGD:1314941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8772816	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1314941	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	
8772816	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:150	disease of mental health		ISO	RGD:1314941	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18469815
8772816	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:1664	pineoblastoma		ISO	RGD:1314941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pineoblastoma	PMID:27993330|PMID:31768671|PMID:31802236|PMID:31820118|PMID:32124011
8772816	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:1909	melanoma		ISO	RGD:1314941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8772816	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:2154	nephroblastoma		ISO	RGD:1314941	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
8772816	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8772816	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:3275	thymoma		ISO	RGD:1314941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8772816	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1314941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8772816	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:9003566	Mesothelioma		ISO	RGD:1314941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8772816	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8772816	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1321287	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437031
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia		ISO	RGD:1321287	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia		ISO	RGD:1321287	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.D290V (human)	PMID:23455423|REF_RGD_ID:10395280
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0060058	lymphoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0111384	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2		ISO	RGD:1321287	D	RGD:7240710	20190315	OMIM			
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0111384	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2		ISO	RGD:1321287	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 2	PMID:11891683|PMID:16199547|PMID:17576681|PMID:23455423|PMID:25741868|PMID:28389692|PMID:28492532|PMID:29358076|PMID:9536098
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0111384	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2		ISO	RGD:1321287	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HNRNPA2B1-related condition | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 2	PMID:16199547|PMID:17576681|PMID:25741868|PMID:27990297|PMID:28389692|PMID:28492532|PMID:29358076|PMID:35484142|PMID:9536098
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:10534	stomach cancer		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1321287	D	RGD:9068941	20200609	RGD		protein:decreased expression:entorhinal cortex (human)	PMID:22628224|REF_RGD_ID:9999191
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:1115	sarcoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:1909	melanoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1310403	D	RGD:9068941	20200609	RGD		protein:altered expression:cerebral cortex, hippocampus (rat)	PMID:20421594|REF_RGD_ID:10041006
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:3275	thymoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:1321287	D	RGD:9068941	20200609	RGD		antibody 703D4 recognizes Hnrnpa2b1 protein (RGD:9685415);protein:increased expression:sputum (human)	PMID:2846790|REF_RGD_ID:9685413
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:4905	pancreatic carcinoma	severity	ISO	RGD:1310403	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas (rat)	PMID:21472101|REF_RGD_ID:9587766
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321287	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:630	genetic disease		ISO	RGD:1321287	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:7148	rheumatoid arthritis	severity	ISO	RGD:1310403	D	RGD:9068941	20200609	RGD			PMID:18025202|REF_RGD_ID:9685481
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:9000844	Oculopharyngeal Muscular Dystrophy 2		ISO	RGD:1321287	D	RGD:7240710	20230809	OMIM			
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:9000844	Oculopharyngeal Muscular Dystrophy 2		ISO	RGD:1321287	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 | ClinVar Annotator: match by term: Oculopharyngeal muscular dystrophy 2	PMID:25741868|PMID:28492532|PMID:35484142
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1310403	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder (rat)	PMID:18337374|REF_RGD_ID:9685410
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8772855	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1321287	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	PMID:23455423|PMID:25741868
8772909	Pld5	phospholipase D family member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8772909	Pld5	phospholipase D family member 5	gene	DOID:12849	autistic disorder		ISO	RGD:1603543	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20663923
8772909	Pld5	phospholipase D family member 5	gene	DOID:1324	lung cancer		ISO	RGD:1603543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8772909	Pld5	phospholipase D family member 5	gene	DOID:3275	thymoma		ISO	RGD:1603543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8772909	Pld5	phospholipase D family member 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8772909	Pld5	phospholipase D family member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8772909	Pld5	phospholipase D family member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8772923	Slc7a9	solute carrier family 7 member 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8772923	Slc7a9	solute carrier family 7 member 9	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:734403	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease, adult type	PMID:25741868
8772923	Slc7a9	solute carrier family 7 member 9	gene	DOID:10534	stomach cancer		ISO	RGD:734403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8772923	Slc7a9	solute carrier family 7 member 9	gene	DOID:1324	lung cancer		ISO	RGD:734403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8772923	Slc7a9	solute carrier family 7 member 9	gene	DOID:1882	atrial heart septal defect		ISO	RGD:734403	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:11157794|PMID:12371955|PMID:12379955|PMID:15635077|PMID:16834950|PMID:16838140|PMID:19782624|PMID:21255007|PMID:24033266|PMID:25109415|PMID:25296721|PMID:25741868|PMID:25964309|PMID:26990548|PMID:28492532|PMID:28717662|PMID:29431110|PMID:30609409|PMID:37279760|PMID:39096151|PMID:40794449
8772923	Slc7a9	solute carrier family 7 member 9	gene	DOID:3275	thymoma		ISO	RGD:734403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8772923	Slc7a9	solute carrier family 7 member 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8772923	Slc7a9	solute carrier family 7 member 9	gene	DOID:5041	esophageal cancer		ISO	RGD:734403	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8772923	Slc7a9	solute carrier family 7 member 9	gene	DOID:557	kidney disease		ISO	RGD:734403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21572414
8772923	Slc7a9	solute carrier family 7 member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772923	Slc7a9	solute carrier family 7 member 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8772923	Slc7a9	solute carrier family 7 member 9	gene	DOID:630	genetic disease		ISO	RGD:734403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10471498|PMID:11157794|PMID:11260385|PMID:12234930|PMID:12239244|PMID:12820697|PMID:15635077|PMID:18414213|PMID:19782624|PMID:22480232|PMID:25109415|PMID:25296721|PMID:25741868|PMID:25777271|PMID:25964309|PMID:28492532|PMID:28646536|PMID:28717662|PMID:28812535|PMID:34805638|PMID:40794449
8772923	Slc7a9	solute carrier family 7 member 9	gene	DOID:9005734	Abdominal Pain		ISO	RGD:734403	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:11157794|PMID:12371955|PMID:12379955|PMID:15635077|PMID:16834950|PMID:16838140|PMID:19782624|PMID:21255007|PMID:24033266|PMID:25109415|PMID:25296721|PMID:25741868|PMID:25964309|PMID:26990548|PMID:28492532|PMID:28717662|PMID:29431110|PMID:30609409|PMID:37279760|PMID:39096151|PMID:40794449
8772923	Slc7a9	solute carrier family 7 member 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8772923	Slc7a9	solute carrier family 7 member 9	gene	DOID:9007923	Back Pain		ISO	RGD:734403	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Back pain	PMID:11157794|PMID:12371955|PMID:12379955|PMID:15635077|PMID:16834950|PMID:16838140|PMID:19782624|PMID:21255007|PMID:24033266|PMID:25109415|PMID:25296721|PMID:25741868|PMID:25964309|PMID:26990548|PMID:28492532|PMID:28717662|PMID:29431110|PMID:30609409|PMID:37279760|PMID:39096151|PMID:40794449
8772923	Slc7a9	solute carrier family 7 member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8772923	Slc7a9	solute carrier family 7 member 9	gene	DOID:9266	cystinuria		ISO	RGD:734403	D	RGD:7240710	20180130	OMIM			
8772923	Slc7a9	solute carrier family 7 member 9	gene	DOID:9266	cystinuria		ISO	RGD:734403	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CYSTINURIA | ClinVar Annotator: match by term: Cystine Urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I | ClinVar Annotator: match by term: SLC7A9-related condition	PMID:10471498|PMID:11157794|PMID:11260385|PMID:12234283|PMID:12234930|PMID:12239244|PMID:12371955|PMID:12379955|PMID:12820697|PMID:15635077|PMID:15670723|PMID:16138908|PMID:16199547|PMID:16225397|PMID:16374432|PMID:16609684|PMID:16834950|PMID:16838140|PMID:17576681|PMID:18414213|PMID:19782624|PMID:20052367|PMID:21255007|PMID:22480232|PMID:23532419|PMID:24033266|PMID:25109415|PMID:25296721|PMID:25599739|PMID:25741868|PMID:25777271|PMID:25964309|PMID:26123750|PMID:26990548|PMID:28492532|PMID:28646536|PMID:28717662|PMID:28812535|PMID:29431110|PMID:30609409|PMID:32133030|PMID:33349102|PMID:33377691|PMID:33532864|PMID:34758253|PMID:34805638|PMID:35149915|PMID:36571637|PMID:37279760|PMID:37306718|PMID:39096151|PMID:40794449|PMID:9536098
8772962	Ark2c	arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C	gene	DOID:0080600	COVID-19		ISO	RGD:1343595	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8772962	Ark2c	arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C	gene	DOID:1115	sarcoma		ISO	RGD:1343595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8772962	Ark2c	arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C	gene	DOID:1324	lung cancer		ISO	RGD:1343595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8772962	Ark2c	arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8772962	Ark2c	arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:730902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:0060674	catecholaminergic polymorphic ventricular tachycardia		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia	
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:28492532
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:0080431	developmental and epileptic encephalopathy 19		ISO	RGD:730902	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 19 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 19 | ClinVar Annotator: match by term: GABRA1-related disorder	PMID:16718694|PMID:24623842|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:28492532|PMID:28837158|PMID:29186148|PMID:29389947|PMID:29655203|PMID:29758562|PMID:32238909|PMID:35937053|PMID:36584483|PMID:36672771|PMID:37606373|PMID:37809401
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:0080431	developmental and epileptic encephalopathy 19	susceptibility	ISO	RGD:730902	D	RGD:7240710	20260729	OMIM			
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:730902	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:1059	intellectual disability		ISO	RGD:730902	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868|PMID:28492532
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:1059	intellectual disability		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability	PMID:16718694|PMID:25741868|PMID:27353043|PMID:27521439|PMID:28492532|PMID:28554332|PMID:29655203
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:11830	myopia		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:11832	visual epilepsy		ISO	RGD:730902	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:30949046
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:12849	autistic disorder		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:13413	hepatic encephalopathy		ISO	RGD:61855	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:15929193|REF_RGD_ID:6480237
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:13413	hepatic encephalopathy		ISO	RGD:730902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15929193
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:1596	depressive disorder		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:1825	childhood absence epilepsy		ISO	RGD:730902	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4	PMID:16199547|PMID:16718694|PMID:21703448|PMID:24623842|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:27622563|PMID:28492532|PMID:28837158|PMID:29655203|PMID:32238909|PMID:33767182|PMID:36672771|PMID:37606373|PMID:37809401
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:1826	epilepsy		ISO	RGD:730902	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure	PMID:16530959|PMID:16569738|PMID:18414213|PMID:24623842|PMID:24909990|PMID:25741868|PMID:26467025|PMID:27353043|PMID:27521439|PMID:28251550|PMID:28492532|PMID:29655203
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:1826	epilepsy		ISO	RGD:730902	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder	PMID:24623842|PMID:25741868|PMID:26918889|PMID:27353043|PMID:27521439|PMID:28492532|PMID:29655203
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:1827	generalized epilepsy		ISO	RGD:730902	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalised epilepsy	PMID:16199547|PMID:16718694|PMID:21703448|PMID:24623842|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:27622563|PMID:28492532|PMID:28837158|PMID:29655203|PMID:32238909|PMID:33767182|PMID:36672771|PMID:37606373|PMID:37809401
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:2030	anxiety disorder		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:3327	partial motor epilepsy		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal tonic seizure	PMID:25741868|PMID:27353043|PMID:27521439|PMID:28492532|PMID:29655203
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:4890	juvenile myoclonic epilepsy		ISO	RGD:730902	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Juvenile myoclonic epilepsy	PMID:28492532
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:4990	essential tremor		ISO	RGD:730902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15765150
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:5119	ovarian cyst		ISO	RGD:730902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:630	genetic disease		ISO	RGD:730902	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21703448|PMID:24623842|PMID:25741868|PMID:26918889|PMID:27521439|PMID:27622563|PMID:28492532|PMID:30977854|PMID:31440721|PMID:35937053|PMID:37606373|PMID:37809401
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:7998	hyperthyroidism		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9002735	alcohol withdrawal syndrome		ISO	RGD:61855	D	RGD:9068941	20260416	RGD		mRNA:altered expression:medulla oblongata	PMID:22486438|REF_RGD_ID:645122583
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:61855	D	RGD:9068941	20231230	RGD			PMID:22428005|REF_RGD_ID:401940127
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:730902	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:28492532
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9004866	Ataxia		ISO	RGD:730902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12404077
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9006302	Binge Drinking		ISO	RGD:61855	D	RGD:9068941	20240328	RGD		associated with human immunodeficiency virus infectious disease;mRNA:altered expression:liver,spleen (rat)	PMID:23413777|REF_RGD_ID:405100715
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:730902	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:18414213|PMID:25741868|PMID:28492532
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9007204	Dysbiosis		ISO	RGD:62147	D	RGD:9068941	20250104	RGD		associated with alcohol dependence;mRNA:decreased expression:hippocampus	PMID:30417952|REF_RGD_ID:596938163
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9009305	Idiopathic Generalized Epilepsy 13		ISO	RGD:730902	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EJM5 | ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13 | ClinVar Annotator: match by term: GABRA1-related disorder	PMID:16199547|PMID:16718694|PMID:17576681|PMID:21703448|PMID:23934111|PMID:24623842|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:27622563|PMID:28492532|PMID:28540321|PMID:28837158|PMID:28864462|PMID:29186148|PMID:29655203|PMID:31056671|PMID:31164858|PMID:31440721|PMID:31785789|PMID:32238909|PMID:33057194|PMID:33767182|PMID:35937053|PMID:35982159|PMID:36672771|PMID:37606373|PMID:37809401|PMID:9536098
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9009305	Idiopathic Generalized Epilepsy 13	susceptibility	ISO	RGD:730902	D	RGD:7240710	20260729	OMIM			
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9009315	Idiopathic Generalized Epilepsy		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EIG | ClinVar Annotator: match by term: Idiopathic generalized epilepsy	PMID:16199547|PMID:16718694|PMID:17576681|PMID:21703448|PMID:23934111|PMID:24623842|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:27622563|PMID:28492532|PMID:28540321|PMID:28837158|PMID:28864462|PMID:29186148|PMID:29655203|PMID:31056671|PMID:31164858|PMID:31440721|PMID:31785789|PMID:32238909|PMID:33057194|PMID:33767182|PMID:35937053|PMID:35982159|PMID:36672771|PMID:37606373|PMID:37809401|PMID:9536098
8772977	Gabra1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:936	brain disease		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
8772991	Tmem19	transmembrane protein 19	gene	DOID:10534	stomach cancer		ISO	RGD:1351529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8772991	Tmem19	transmembrane protein 19	gene	DOID:1909	melanoma		ISO	RGD:1351529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8772991	Tmem19	transmembrane protein 19	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1351529	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8772991	Tmem19	transmembrane protein 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1351529	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8772991	Tmem19	transmembrane protein 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8772991	Tmem19	transmembrane protein 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
8772991	Tmem19	transmembrane protein 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8772991	Tmem19	transmembrane protein 19	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ETV6-related condition	
8773016	Znf830	zinc finger protein 830	gene	DOID:0080600	COVID-19		ISO	RGD:1605313	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8773021	Cbr4	carbonyl reductase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1602997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8773021	Cbr4	carbonyl reductase 4	gene	DOID:1793	pancreatic cancer		ISO	RGD:1602997	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: PALLD-related condition | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:25741868|PMID:28492532
8773021	Cbr4	carbonyl reductase 4	gene	DOID:3275	thymoma		ISO	RGD:1602997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8773021	Cbr4	carbonyl reductase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1602997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8773021	Cbr4	carbonyl reductase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773021	Cbr4	carbonyl reductase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8773021	Cbr4	carbonyl reductase 4	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1602997	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:25741868|PMID:28492532
8773040	Clk4	CDC like kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8773040	Clk4	CDC like kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1321078	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8773040	Clk4	CDC like kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8773040	Clk4	CDC like kinase 4	gene	DOID:1909	melanoma		ISO	RGD:1321078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8773040	Clk4	CDC like kinase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321078	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8773040	Clk4	CDC like kinase 4	gene	DOID:3070	high grade glioma		ISO	RGD:1321078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8773040	Clk4	CDC like kinase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1321078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8773040	Clk4	CDC like kinase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8773040	Clk4	CDC like kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1321078	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8773040	Clk4	CDC like kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773040	Clk4	CDC like kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8773064	Phyhd1	phytanoyl-CoA dioxygenase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8773064	Phyhd1	phytanoyl-CoA dioxygenase domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8773064	Phyhd1	phytanoyl-CoA dioxygenase domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8773064	Phyhd1	phytanoyl-CoA dioxygenase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773064	Phyhd1	phytanoyl-CoA dioxygenase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8773064	Phyhd1	phytanoyl-CoA dioxygenase domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8773079	Ush2a	usherin	gene	DOID:0050439	Usher syndrome		ISO	RGD:736503	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Usher syndrome	PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31736247|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32188678|PMID:32531858|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:33089500|PMID:34130719|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0050439	Usher syndrome		ISO	RGD:736503	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:33089500|PMID:33576794|PMID:34130719|PMID:34426522|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0050439	Usher syndrome		ISO	RGD:736503	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:33089500|PMID:33576794|PMID:34130719|PMID:34416374|PMID:34426522|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0050439	Usher syndrome		ISO	RGD:736503	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:33089500|PMID:33576794|PMID:34130719|PMID:34416374|PMID:34426522|PMID:34638692|PMID:35457016|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0050439	Usher syndrome		ISO	RGD:736503	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31816670|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:33089500|PMID:33576794|PMID:33749171|PMID:34130719|PMID:34148116|PMID:34416374|PMID:34426522|PMID:34638692|PMID:34948090|PMID:35457016|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0050439	Usher syndrome		ISO	RGD:736503	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28798898|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29266521|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29940899|PMID:29953849|PMID:30029497|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30796641|PMID:30826590|PMID:30872814|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31816670|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32093671|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:32893482|PMID:33089500|PMID:33111345|PMID:33124170|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33781268|PMID:34130719|PMID:34148116|PMID:34203967|PMID:34416374|PMID:34426522|PMID:34638692|PMID:34781295|PMID:34948090|PMID:35266249|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0050439	Usher syndrome		ISO	RGD:736503	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28798898|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29266521|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29940899|PMID:29953849|PMID:30029497|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30796641|PMID:30826590|PMID:30872814|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31816670|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32093671|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:32893482|PMID:33089500|PMID:33111345|PMID:33124170|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33781268|PMID:34130719|PMID:34148116|PMID:34203967|PMID:34416374|PMID:34426522|PMID:34638692|PMID:34781295|PMID:34948090|PMID:35266249|PMID:36314366|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0050439	Usher syndrome		ISO	RGD:736503	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24154662|PMID:24160897|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26352687|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28798898|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29266521|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29940899|PMID:29953849|PMID:30029497|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30796641|PMID:30826590|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31581539|PMID:31589614|PMID:31699113|PMID:31736247|PMID:31816670|PMID:31817543|PMID:31836858|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32176120|PMID:32188678|PMID:32319668|PMID:32483926|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111345|PMID:33124170|PMID:33247286|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33781268|PMID:33946315|PMID:34008892|PMID:34130719|PMID:34148116|PMID:34203967|PMID:34416374|PMID:34426522|PMID:34599368|PMID:34638692|PMID:34662339|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35672425|PMID:36011334|PMID:36110214|PMID:36284460|PMID:36314366|PMID:36460718|PMID:36909829|PMID:37322672|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0050439	Usher syndrome		ISO	RGD:736503	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24154662|PMID:24160897|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26352687|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28798898|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29266521|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29940899|PMID:29953849|PMID:30029497|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30796641|PMID:30826590|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31581539|PMID:31589614|PMID:31699113|PMID:31736247|PMID:31816670|PMID:31817543|PMID:31836858|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32176120|PMID:32188678|PMID:32319668|PMID:32483926|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111345|PMID:33124170|PMID:33247286|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33781268|PMID:33946315|PMID:34008892|PMID:34130719|PMID:34148116|PMID:34203967|PMID:34416374|PMID:34426522|PMID:34599368|PMID:34638692|PMID:34662339|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35672425|PMID:36011334|PMID:36110214|PMID:36284460|PMID:36314366|PMID:36460718|PMID:36909829|PMID:37322672|PMID:38189974|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0050439	Usher syndrome		ISO	RGD:736503	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24154662|PMID:24160897|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26352687|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28798898|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29266521|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29940899|PMID:29953849|PMID:30029497|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30796641|PMID:30826590|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31581539|PMID:31589614|PMID:31699113|PMID:31736247|PMID:31816670|PMID:31817543|PMID:31836858|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32176120|PMID:32188678|PMID:32319668|PMID:32340307|PMID:32483926|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111345|PMID:33124170|PMID:33247286|PMID:33535592|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33781268|PMID:33946315|PMID:34008892|PMID:34130719|PMID:34148116|PMID:34203967|PMID:34416374|PMID:34426522|PMID:34599368|PMID:34638692|PMID:34662339|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35672425|PMID:36011334|PMID:36110214|PMID:36284460|PMID:36314366|PMID:36362125|PMID:36460718|PMID:36785559|PMID:36909829|PMID:37322672|PMID:38189974|PMID:38219857|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0050439	Usher syndrome		ISO	RGD:736503	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:33535592|PMID:33576794|PMID:33629268|PMID:33691693|PMID:33737949|PMID:33749171|PMID:33781268|PMID:33851411|PMID:33946315|PMID:34008892|PMID:34130719|PMID:34148116|PMID:34203967|PMID:34327195|PMID:34376197|PMID:34416374|PMID:34426522|PMID:34599368|PMID:34638692|PMID:34662339|PMID:34721897|PMID:34758253|PMID:34781295|PMID:34824372|PMID:34906470|PMID:34948090|PMID:35052368|PMID:35052694|PMID:35062939|PMID:35152177|PMID:35248879|PMID:3526624|PMID:35266249|PMID:35314707|PMID:35345973|PMID:35452909|PMID:35456422|PMID:35656873|PMID:35672333|PMID:35672425|PMID:35836572|PMID:35870892|PMID:35982127|PMID:36003347|PMID:36011334|PMID:36051698|PMID:36110214|PMID:36284460|PMID:36284670|PMID:36314366|PMID:36362125|PMID:36460718|PMID:36464167|PMID:36597107|PMID:36672815|PMID:36729443|PMID:36785559|PMID:36819107|PMID:36909829|PMID:37287646|PMID:37322672|PMID:37558662|PMID:38189974|PMID:38219857|PMID:38347443|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0050439	Usher syndrome		ISO	RGD:736503	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24154662|PMID:24160897|PMID:24227914|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:24963352|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25474345|PMID:25481835|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26252086|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27068579|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28704108|PMID:28761320|PMID:28798898|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28945494|PMID:28981474|PMID:28984810|PMID:29074561|PMID:29142287|PMID:29151245|PMID:29196752|PMID:29266521|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29431110|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29847639|PMID:29899460|PMID:29912909|PMID:29940899|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30245926|PMID:30280194|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30390570|PMID:30459346|PMID:30487145|PMID:30543658|PMID:30609409|PMID:30718709|PMID:30755392|PMID:30796641|PMID:30826590|PMID:30872814|PMID:30896630|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31045651|PMID:31047384|PMID:31054281|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31541171|PMID:31581539|PMID:31589614|PMID:31699113|PMID:31736247|PMID:31816670|PMID:31817543|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31963381|PMID:31964843|PMID:31980526|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32050993|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32141364|PMID:32176120|PMID:32188678|PMID:32203226|PMID:32319668|PMID:32326409|PMID:32340307|PMID:32483926|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32664777|PMID:32675063|PMID:32707200|PMID:32749464|PMID:32853555|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33105617|PMID:33111345|PMID:33124170|PMID:33247286|PMID:33258288|PMID:33302505
8773079	Ush2a	usherin	gene	DOID:0050439	Usher syndrome		ISO	RGD:736503	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:33360097|PMID:33411470|PMID:33535592|PMID:33576794|PMID:33608557|PMID:33629268|PMID:33691693|PMID:33737949|PMID:33749171|PMID:33781268|PMID:33851411|PMID:33946315|PMID:34008892|PMID:34130719|PMID:34148116|PMID:34203967|PMID:34327195|PMID:34376197|PMID:34416374|PMID:34426522|PMID:34599368|PMID:34638692|PMID:34662339|PMID:34721897|PMID:34758253|PMID:34781295|PMID:34795310|PMID:34824372|PMID:34906470|PMID:34948090|PMID:35052368|PMID:35052694|PMID:35062939|PMID:35152177|PMID:35248879|PMID:3526624|PMID:35266249|PMID:35314707|PMID:35345973|PMID:35452909|PMID:35456422|PMID:35651951|PMID:35656873|PMID:35672333|PMID:35672425|PMID:35836572|PMID:35870892|PMID:35982127|PMID:36003347|PMID:36011334|PMID:36051698|PMID:36110214|PMID:36284460|PMID:36284670|PMID:36314366|PMID:36362125|PMID:36460718|PMID:36464167|PMID:36597107|PMID:36672815|PMID:36729443|PMID:36785559|PMID:36819107|PMID:36909829|PMID:37217489|PMID:37287645|PMID:37287646|PMID:37322672|PMID:37558662|PMID:37734845|PMID:38189974|PMID:38219857|PMID:38347443|PMID:38879497|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0050439	Usher syndrome		ISO	RGD:736503	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15146472|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:17666888|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18463683|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24154662|PMID:24158611|PMID:24160897|PMID:24227914|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24529908|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:24963352|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25474345|PMID:25481835|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26096904|PMID:26164827|PMID:26252086|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27068579|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27734839|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28704108|PMID:28761320|PMID:28798898|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28945494|PMID:28981474|PMID:28984810|PMID:29074561|PMID:29142287|PMID:29151245|PMID:29196752|PMID:29266521|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29431110|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29847639|PMID:29899460|PMID:29912909|PMID:29940899|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30245926|PMID:30280194|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30390570|PMID:30459346|PMID:30487145|PMID:30543658|PMID:30609409|PMID:30718709|PMID:30755392|PMID:30796641|PMID:30826590|PMID:30872814|PMID:30896630|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31045651|PMID:31047384|PMID:31054281|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31541171|PMID:31581539|PMID:31589614|PMID:31699113|PMID:31736247|PMID:31816670|PMID:31817543|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31963381|PMID:31964843|PMID:31980526|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32050993|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32141364|PMID:32176120|PMID:32188678|PMID:32203226|PMID:32319668|PMID:32326409|PMID:32340307|PMID:32367058|PMID:32483926|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32664777|PMID:32675063|PMID:32707200|PMID:32749464|PMID:32853555|PMID:32893482|PMID:33089500
8773079	Ush2a	usherin	gene	DOID:0050439	Usher syndrome		ISO	RGD:736503	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:33090715|PMID:33105608|PMID:33105617|PMID:33111345|PMID:33124170|PMID:33247286|PMID:33258288|PMID:33302505|PMID:33360097|PMID:33411470|PMID:33535592|PMID:33576794|PMID:33608557|PMID:33629268|PMID:33691693|PMID:33737949|PMID:33749171|PMID:33781268|PMID:33851411|PMID:33946315|PMID:34008892|PMID:34130719|PMID:34148116|PMID:34203967|PMID:34327195|PMID:34376197|PMID:34416374|PMID:34426522|PMID:34599368|PMID:34638692|PMID:34662339|PMID:34721897|PMID:34758253|PMID:34781295|PMID:34795310|PMID:34824372|PMID:34906470|PMID:34948090|PMID:35052368|PMID:35052694|PMID:35062939|PMID:35152177|PMID:35248879|PMID:3526624|PMID:35266249|PMID:35314707|PMID:35345973|PMID:35452909|PMID:35456422|PMID:35651951|PMID:35656873|PMID:35672333|PMID:35672425|PMID:35836572|PMID:35870892|PMID:35982127|PMID:36003347|PMID:36011334|PMID:36051698|PMID:36110214|PMID:36284460|PMID:36284670|PMID:36314366|PMID:36362125|PMID:36460718|PMID:36464167|PMID:36597107|PMID:36672815|PMID:36729443|PMID:36785559|PMID:36819107|PMID:36909829|PMID:37217489|PMID:37287645|PMID:37287646|PMID:37322672|PMID:37558662|PMID:37734845|PMID:38189974|PMID:38219857|PMID:38347443|PMID:38879497|PMID:8477259|PMID:9285800|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0050439	Usher syndrome		ISO	RGD:736503	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24154662|PMID:24160897|PMID:24227914|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24811962|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:24963352|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25474345|PMID:25481835|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26252086|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27068579|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28704108|PMID:28761320|PMID:28798898|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28945494|PMID:28981474|PMID:28984810|PMID:29074561|PMID:29142287|PMID:29151245|PMID:29196752|PMID:29266521|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29431110|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29847639|PMID:29899460|PMID:29912909|PMID:29940899|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30245926|PMID:30280194|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30390570|PMID:30459346|PMID:30487145|PMID:30543658|PMID:30609409|PMID:30718709|PMID:30755392|PMID:30796641|PMID:30826590|PMID:30872814|PMID:30896630|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31045651|PMID:31047384|PMID:31054281|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31541171|PMID:31581539|PMID:31589614|PMID:31699113|PMID:31736247|PMID:31816670|PMID:31817543|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31963381|PMID:31964843|PMID:31980526|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32050993|PMID:32090030|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32141364|PMID:32176120|PMID:32188678|PMID:32203226|PMID:32319668|PMID:32326409|PMID:32340307|PMID:32483926|PMID:32531858|PMID:32552793|PMID:32579692|PMID:3258136|PMID:32581362|PMID:32637036|PMID:32664777|PMID:32675063|PMID:32707200|PMID:32749464|PMID:32853555|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33105617|PMID:33111345|PMID:33111992
8773079	Ush2a	usherin	gene	DOID:0050439	Usher syndrome		ISO	RGD:736503	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:33124170|PMID:33247286|PMID:33258288|PMID:33302505|PMID:33360097|PMID:33411470|PMID:33535592|PMID:33576794|PMID:33608557|PMID:33629268|PMID:33691693|PMID:33708524|PMID:33737949|PMID:33749171|PMID:33781268|PMID:33851411|PMID:33926394|PMID:33946315|PMID:34008892|PMID:34130719|PMID:34148116|PMID:34203967|PMID:34327195|PMID:34376197|PMID:34416374|PMID:34426522|PMID:34515852|PMID:34599368|PMID:34638692|PMID:34662339|PMID:34721897|PMID:34758253|PMID:34781295|PMID:34795310|PMID:34824372|PMID:34906470|PMID:34948090|PMID:35052368|PMID:35052694|PMID:35062939|PMID:35152177|PMID:35248879|PMID:3526624|PMID:35266249|PMID:35314707|PMID:35345973|PMID:35452909|PMID:35456422|PMID:35651951|PMID:35656873|PMID:35672333|PMID:35672425|PMID:35836572|PMID:35870892|PMID:35982127|PMID:36003347|PMID:36011334|PMID:36034145|PMID:36051698|PMID:36110214|PMID:36284460|PMID:36284670|PMID:36314366|PMID:36362125|PMID:36460718|PMID:36464167|PMID:36597107|PMID:36672815|PMID:36729443|PMID:36785559|PMID:36819107|PMID:36909829|PMID:37217489|PMID:37287645|PMID:37287646|PMID:37322672|PMID:37446072|PMID:37558662|PMID:37734845|PMID:38189974|PMID:38219857|PMID:38347443|PMID:38879497|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0050439	Usher syndrome		ISO	RGD:736503	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301515|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24154662|PMID:24160897|PMID:24227914|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24811962|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:24963352|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25481835|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26164827|PMID:26252086|PMID:26261414|PMID:26306921|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26416264|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27068579|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28704108|PMID:28761320|PMID:28798898|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28945494|PMID:28981474|PMID:28984810|PMID:29142287|PMID:29151245|PMID:29196752|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29431110|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29847639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30245926|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30390570|PMID:30459346|PMID:30543658|PMID:30609409|PMID:30718709|PMID:30755392|PMID:30796641|PMID:30872814|PMID:30902645|PMID:30924848|PMID:31047384|PMID:31054281|PMID:31152317|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31541171|PMID:31581539|PMID:31589614|PMID:31699113|PMID:31736247|PMID:31816670|PMID:31817543|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31963381|PMID:31964843|PMID:31980526|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32050993|PMID:32090030|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32141364|PMID:32176120|PMID:32188678|PMID:32319668|PMID:32326409|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32637036|PMID:32664777|PMID:32675063|PMID:32707200|PMID:32749464|PMID:32853555|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33105617|PMID:33124170|PMID:33247286|PMID:33258288|PMID:33302505|PMID:33360097|PMID:33411470|PMID:33535592|PMID:33576794|PMID:33608557|PMID:33629268|PMID:33691693|PMID:33708524|PMID:33737949|PMID:33749171|PMID:33851411|PMID:33946315|PMID:34008892|PMID:34130719|PMID:34148116|PMID:34203967|PMID:34327195|PMID:34376197|PMID:34416374|PMID:34426522|PMID:34599368|PMID:34638692|PMID:34721897
8773079	Ush2a	usherin	gene	DOID:0050439	Usher syndrome		ISO	RGD:736503	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:34758253|PMID:34781295|PMID:34795310|PMID:34824372|PMID:34906470|PMID:34948090|PMID:35052368|PMID:35052694|PMID:35062939|PMID:35152177|PMID:35248879|PMID:3526624|PMID:35266249|PMID:35345973|PMID:35452909|PMID:35456422|PMID:35651951|PMID:35656873|PMID:35672333|PMID:35672425|PMID:35836572|PMID:35870892|PMID:35982127|PMID:36011334|PMID:36034145|PMID:36051698|PMID:36110214|PMID:36284460|PMID:36284670|PMID:36314366|PMID:36362125|PMID:36460718|PMID:36464167|PMID:36597107|PMID:36672815|PMID:36729443|PMID:36785559|PMID:36819107|PMID:36909829|PMID:37217489|PMID:37287645|PMID:37287646|PMID:37322672|PMID:37558662|PMID:37734845|PMID:38189974|PMID:38219857|PMID:38347443|PMID:38879497|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0050439	Usher syndrome		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: USHER Syndrome | ClinVar Annotator: match by term: Usher syndrome | ClinVar Annotator: match by term: Usher's syndrome	PMID:10729113|PMID:10738000|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16199547|PMID:16963483|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18452394|PMID:18641288|PMID:19683999|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301515|PMID:20507924|PMID:20591486|PMID:21569298|PMID:22009552|PMID:22135276|PMID:22334370|PMID:22581970|PMID:23591405|PMID:23804846|PMID:23924366|PMID:24033266|PMID:24160897|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25133751|PMID:25333064|PMID:25342620|PMID:25404053|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25999674|PMID:26338283|PMID:26629787|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27460420|PMID:27624628|PMID:28041643|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28653555|PMID:28704108|PMID:28761320|PMID:28838317|PMID:28944237|PMID:28981474|PMID:29142287|PMID:29151245|PMID:29490346|PMID:29655801|PMID:29847639|PMID:29953849|PMID:30190494|PMID:30311386|PMID:30337596|PMID:30459346|PMID:30718709|PMID:30755392|PMID:30902645|PMID:31231422|PMID:31266775|PMID:31429209|PMID:31456290|PMID:31581539|PMID:31589614|PMID:31736247|PMID:31816670|PMID:31827275|PMID:31836858|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32090030|PMID:32141364|PMID:32176120|PMID:32326409|PMID:32531858|PMID:32566994|PMID:32581362|PMID:32664777|PMID:32675063|PMID:32853555|PMID:32995707|PMID:33089500|PMID:33090715|PMID:33302505|PMID:33360097|PMID:33411470|PMID:33535592|PMID:33576794|PMID:33691693|PMID:33749171|PMID:34148116|PMID:34203967|PMID:34426522|PMID:34599368|PMID:34758253|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35345973|PMID:35456422|PMID:35457016|PMID:35651951|PMID:35836572|PMID:36011334|PMID:36110214|PMID:36284670|PMID:36362125|PMID:36460718|PMID:36672815|PMID:36729443|PMID:36785559|PMID:36819107|PMID:36909829|PMID:37976142|PMID:38189974|PMID:38219857|PMID:40607868|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0050439	Usher syndrome	susceptibility	ISO	RGD:736503	D	RGD:9068941	20200609	RGD		DNA:snps, insertion:exon, intron:multiple (human)	PMID:18452394|REF_RGD_ID:8547956
8773079	Ush2a	usherin	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness	PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:26629787|PMID:26872967|PMID:26969326|PMID:27344577|PMID:27460420|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28761320|PMID:28838317|PMID:29151245|PMID:29847639|PMID:29953849|PMID:30337596|PMID:30718709|PMID:30755392|PMID:31231422|PMID:31266775|PMID:31429209|PMID:31589614|PMID:31816670|PMID:31827275|PMID:31836858|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32176120|PMID:32531858|PMID:32581362|PMID:32664777|PMID:32853555|PMID:33089500|PMID:33302505|PMID:33411470|PMID:33576794|PMID:33749171|PMID:34148116|PMID:34426522|PMID:34758253|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35345973|PMID:35456422|PMID:35836572|PMID:36011334|PMID:36460718|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:736503	D	RGD:9068941	20260618	RGD		DNA:missense mutations, frameshift mutation, snp:cds, intron:multiple (human)	PMID:23767834|REF_RGD_ID:8548458
8773079	Ush2a	usherin	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:736503	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19683999|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:20513143|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24498627|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25262649|PMID:25333064|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25991456|PMID:26338283|PMID:26633545|PMID:26872967|PMID:26927203|PMID:27208204|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28512305|PMID:29293505|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:736503	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19683999|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:20513143|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23591405|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24498627|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25262649|PMID:25333064|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25991456|PMID:26338283|PMID:26633545|PMID:26872967|PMID:26927203|PMID:27208204|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28512305|PMID:28944237|PMID:29293505|PMID:29953849|PMID:30718709|PMID:31266775|PMID:31836858|PMID:31998945|PMID:32675063|PMID:33691693|PMID:34906470|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:736503	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19683999|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:20513143|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23591405|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24498627|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25262649|PMID:25333064|PMID:25404053|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25991456|PMID:26338283|PMID:26629787|PMID:26633545|PMID:26872967|PMID:26927203|PMID:27208204|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28512305|PMID:28944237|PMID:29293505|PMID:29953849|PMID:30718709|PMID:31266775|PMID:31817543|PMID:31836858|PMID:31998945|PMID:32675063|PMID:33691693|PMID:34906470|PMID:36011334|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16199547|PMID:16963483|PMID:17296898|PMID:17405132|PMID:18273898|PMID:18452394|PMID:18641288|PMID:19683999|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22004887|PMID:22009552|PMID:22135276|PMID:22581970|PMID:23591405|PMID:23804846|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25333064|PMID:25356976|PMID:25404053|PMID:25412400|PMID:25472526|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:26338283|PMID:26352687|PMID:26629787|PMID:26633545|PMID:26872967|PMID:26969326|PMID:27160483|PMID:27344577|PMID:27460420|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28838317|PMID:28944237|PMID:29151245|PMID:29490346|PMID:29847639|PMID:29899460|PMID:29953849|PMID:30337596|PMID:30718709|PMID:30755392|PMID:31231422|PMID:31266775|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31816670|PMID:31827275|PMID:31836858|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32176120|PMID:32326409|PMID:32531858|PMID:32566994|PMID:32581362|PMID:32664777|PMID:32675063|PMID:32853555|PMID:32995707|PMID:33089500|PMID:33302505|PMID:33411470|PMID:33576794|PMID:33749171|PMID:34148116|PMID:34426522|PMID:34758253|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35345973|PMID:35456422|PMID:35457016|PMID:35836572|PMID:36011334|PMID:36460718|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:38219857|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0050646	distal arthrogryposis		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Distal arthrogryposis	PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:26629787|PMID:26872967|PMID:26969326|PMID:27344577|PMID:27460420|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28761320|PMID:28838317|PMID:29151245|PMID:29847639|PMID:29953849|PMID:30337596|PMID:30718709|PMID:30755392|PMID:31231422|PMID:31266775|PMID:31429209|PMID:31589614|PMID:31816670|PMID:31827275|PMID:31836858|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32176120|PMID:32531858|PMID:32581362|PMID:32664777|PMID:32853555|PMID:33089500|PMID:33302505|PMID:33411470|PMID:33576794|PMID:33749171|PMID:34148116|PMID:34426522|PMID:34758253|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35345973|PMID:35456422|PMID:35836572|PMID:36011334|PMID:36460718|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736503	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31209396
8773079	Ush2a	usherin	gene	DOID:0110360	retinitis pigmentosa 39		ISO	RGD:736503	D	RGD:7240710	20180130	OMIM			
8773079	Ush2a	usherin	gene	DOID:0110360	retinitis pigmentosa 39		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 39	PMID:10729113|PMID:10738000|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18452394|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19683999|PMID:19737284|PMID:20052763|PMID:20145675|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20801516|PMID:21569298|PMID:22004887|PMID:22009552|PMID:22135276|PMID:22334370|PMID:22581970|PMID:23591405|PMID:23737954|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24607488|PMID:24618324|PMID:24853665|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25241976|PMID:25333064|PMID:25356976|PMID:25373420|PMID:25404053|PMID:25412400|PMID:25445212|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26747767|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27057829|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:2746042|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28005958|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28430325|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28838317|PMID:28944237|PMID:28981474|PMID:28984810|PMID:29142287|PMID:29151245|PMID:29490346|PMID:29625443|PMID:29847639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30073356|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30718709|PMID:30733538|PMID:30755392|PMID:30826590|PMID:30870047|PMID:30948794|PMID:31054281|PMID:31106028|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31690835|PMID:31736247|PMID:31816670|PMID:31827275|PMID:31836858|PMID:31904091|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32090030|PMID:32098976|PMID:32141364|PMID:32176120|PMID:3218867|PMID:32188678|PMID:32319668|PMID:32326409|PMID:32483926|PMID:32531858|PMID:32566994|PMID:32579692|PMID:32581362|PMID:32664777|PMID:32675063|PMID:32853555|PMID:32893482|PMID:32995707|PMID:33089500|PMID:33105617|PMID:33124170|PMID:33302505|PMID:33360097|PMID:33411470|PMID:33535592|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33946315|PMID:34148116|PMID:34203967|PMID:34426522|PMID:34448047|PMID:34721897|PMID:34758253|PMID:34781295|PMID:34837038|PMID:34906470|PMID:34948090|PMID:35076463|PMID:35243413|PMID:35266249|PMID:35345973|PMID:35452909|PMID:35456422|PMID:35457016|PMID:35836572|PMID:36011334|PMID:36011402|PMID:36110214|PMID:36284670|PMID:36460718|PMID:36597107|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:37217489|PMID:37217689|PMID:37996878|PMID:38219857|PMID:38927702|PMID:39182490|PMID:39443691|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0110375	retinitis pigmentosa 40		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 40	PMID:10729113|PMID:10909849|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18641288|PMID:20301515|PMID:20507924|PMID:21569298|PMID:22004887|PMID:22135276|PMID:24033266|PMID:24498627|PMID:25472526|PMID:25575603|PMID:25649381|PMID:25741868|PMID:26352687|PMID:27460420|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28653555|PMID:29142287|PMID:29899460|PMID:29912909|PMID:33576794|PMID:34948090
8773079	Ush2a	usherin	gene	DOID:0110563	autosomal dominant nonsyndromic deafness 36		ISO	RGD:736503	D	RGD:8554872	20250723	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 36	
8773079	Ush2a	usherin	gene	DOID:0110827	Usher syndrome type 2		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Usher Syndrome, Type II | ClinVar Annotator: match by term: Usher syndrome type 2	PMID:10729113|PMID:10738000|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:16199547|PMID:17296898|PMID:17405132|PMID:18452394|PMID:18641288|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22009552|PMID:22135276|PMID:22581970|PMID:23591405|PMID:23924366|PMID:24033266|PMID:24160897|PMID:24367894|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25211151|PMID:25333064|PMID:25356976|PMID:25404053|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:26629787|PMID:26872967|PMID:26969326|PMID:27344577|PMID:27460420|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28653555|PMID:28761320|PMID:28838317|PMID:28944237|PMID:29151245|PMID:29490346|PMID:29625443|PMID:29847639|PMID:29953849|PMID:30337596|PMID:30718709|PMID:30755392|PMID:31231422|PMID:31266775|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31816670|PMID:31827275|PMID:31836858|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32176120|PMID:32326409|PMID:32531858|PMID:32581362|PMID:32664777|PMID:32853555|PMID:33089500|PMID:33302505|PMID:33411470|PMID:33576794|PMID:33749171|PMID:34148116|PMID:34426522|PMID:34758253|PMID:34781295|PMID:34795310|PMID:34906470|PMID:34948090|PMID:35076463|PMID:35266249|PMID:35345973|PMID:35456422|PMID:35836572|PMID:36011334|PMID:36460718|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:37287645|PMID:38219857|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0110827	Usher syndrome type 2	susceptibility	ISO	RGD:736503	D	RGD:9068941	20200609	RGD		DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human)	PMID:15025721|REF_RGD_ID:8547952
8773079	Ush2a	usherin	gene	DOID:0110827	Usher syndrome type 2	susceptibility	ISO	RGD:736503	D	RGD:9068941	20200609	RGD		DNA:insertion, deletions, snps:multiple (human)	PMID:18665195|REF_RGD_ID:8547965
8773079	Ush2a	usherin	gene	DOID:0110827	Usher syndrome type 2	susceptibility	ISO	RGD:736503	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:17405132|REF_RGD_ID:8547962
8773079	Ush2a	usherin	gene	DOID:0110827	Usher syndrome type 2	susceptibility	ISO	RGD:736503	D	RGD:9068941	20200609	RGD		DNA:snp:intron:c.7595-2144A>G (human)	PMID:22009552|REF_RGD_ID:8547985
8773079	Ush2a	usherin	gene	DOID:0110829	retinitis pigmentosa-deafness syndrome		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome	PMID:24033266|PMID:25741868|PMID:27460420
8773079	Ush2a	usherin	gene	DOID:0110838	Usher syndrome type 2A		ISO	RGD:736503	D	RGD:7240710	20180130	OMIM			
8773079	Ush2a	usherin	gene	DOID:0110838	Usher syndrome type 2A		ISO	RGD:736503	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Usher syndrome type 2A	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18484607|PMID:18641288|PMID:18665192|PMID:18665195|PMID:18723146|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19788668|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20544672|PMID:20591486|PMID:20596040|PMID:20613545|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21487335|PMID:21569298|PMID:21593743|PMID:21681106|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22135276|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23029027|PMID:23591405|PMID:23661368|PMID:23661369|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24875298|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25373420|PMID:25375654|PMID:25388789|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26747767|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27057829|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27353947|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27884173|PMID:27957503|PMID:28000701|PMID:28005958|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28704108|PMID:28714225|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28912962|PMID:28944237|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29151245|PMID:29178603|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29551606|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30073356|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390381|PMID:30459346|PMID:30543658|PMID:30691450|PMID:30718709|PMID:30733538|PMID:30826590|PMID:30870047|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31152317|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31674169|PMID:31699113|PMID:31736247|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32090030|PMID:32093671|PMID:32176120|PMID:32188678|PMID:32467589|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32707200|PMID:32747562|PMID:32893482|PMID:33089500
8773079	Ush2a	usherin	gene	DOID:0110838	Usher syndrome type 2A		ISO	RGD:736503	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Usher syndrome type 2A	PMID:33090715|PMID:33105608|PMID:33111992|PMID:33124170|PMID:33576794|PMID:33623043|PMID:33691693|PMID:34008892|PMID:34031601|PMID:34130719|PMID:34203883|PMID:34416374|PMID:34426522|PMID:34599368|PMID:34638692|PMID:34837038|PMID:35106950|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0110838	Usher syndrome type 2A		ISO	RGD:736503	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18484607|PMID:18641288|PMID:18665192|PMID:18665195|PMID:18723146|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19788668|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20544672|PMID:20591486|PMID:20596040|PMID:20613545|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21487335|PMID:21569298|PMID:21593743|PMID:21681106|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23029027|PMID:23352160|PMID:23591405|PMID:23661368|PMID:23661369|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24875298|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25373420|PMID:25375654|PMID:25388789|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26747767|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27057829|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27353947|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27884173|PMID:27957503|PMID:28000701|PMID:28005958|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28281779|PMID:28430325|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28704108|PMID:28714225|PMID:28761320|PMID:28798898|PMID:28838317|PMID:28894305|PMID:28912962|PMID:28944237|PMID:28945494|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29151245|PMID:29178603|PMID:29196752|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29551606|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30073356|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390381|PMID:30459346|PMID:30543658|PMID:30691450|PMID:30718709|PMID:30733538|PMID:30796641|PMID:30826590|PMID:30870047|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31031587|PMID:31047384|PMID:31054281|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31541171|PMID:31589614|PMID:31674169|PMID:31699113|PMID:31736247|PMID:31817543|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31998945|PMID:32036094|PMID:32037395
8773079	Ush2a	usherin	gene	DOID:0110838	Usher syndrome type 2A		ISO	RGD:736503	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A	PMID:32050993|PMID:32090030|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32176120|PMID:32188678|PMID:32319668|PMID:32467589|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32707200|PMID:32747562|PMID:32767731|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111345|PMID:33111992|PMID:33124170|PMID:33297549|PMID:33576794|PMID:33623043|PMID:33691693|PMID:33781268|PMID:33926394|PMID:33946315|PMID:34008892|PMID:34031601|PMID:34130719|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34327195|PMID:34416374|PMID:34426522|PMID:34448047|PMID:34599368|PMID:34638692|PMID:34721897|PMID:34781295|PMID:34837038|PMID:34906470|PMID:34948090|PMID:35076463|PMID:35106950|PMID:35114279|PMID:35266249|PMID:35672425|PMID:35802133|PMID:36011334|PMID:36314366|PMID:36460718|PMID:36633841|PMID:36785559|PMID:36909829|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0110838	Usher syndrome type 2A		ISO	RGD:736503	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18484607|PMID:18641288|PMID:18665192|PMID:18665195|PMID:18723146|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19788668|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20544672|PMID:20591486|PMID:20596040|PMID:20613545|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21487335|PMID:21569298|PMID:21593743|PMID:21681106|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23029027|PMID:23352160|PMID:23591405|PMID:23661368|PMID:23661369|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24875298|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25373420|PMID:25375654|PMID:25388789|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26747767|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27057829|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27353947|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27884173|PMID:27957503|PMID:28000701|PMID:28005958|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28281779|PMID:28430325|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28704108|PMID:28714225|PMID:28761320|PMID:28798898|PMID:28838317|PMID:28894305|PMID:28912962|PMID:28944237|PMID:28945494|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29151245|PMID:29178603|PMID:29196752|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29551606|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30073356|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390381|PMID:30459346|PMID:30543658|PMID:30691450|PMID:30718709|PMID:30733538|PMID:30796641|PMID:30826590|PMID:30870047|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31031587|PMID:31047384|PMID:31054281|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31541171|PMID:31589614|PMID:31674169|PMID:31699113|PMID:31736247|PMID:31816670|PMID:31817543|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602
8773079	Ush2a	usherin	gene	DOID:0110838	Usher syndrome type 2A		ISO	RGD:736503	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A	PMID:31960602|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32050993|PMID:32090030|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32176120|PMID:32188678|PMID:32319668|PMID:32467589|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32707200|PMID:32747562|PMID:32767731|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111345|PMID:33111992|PMID:33124170|PMID:33297549|PMID:33576794|PMID:33623043|PMID:33629268|PMID:33691693|PMID:33749171|PMID:33781268|PMID:33926394|PMID:33946315|PMID:34008892|PMID:34031601|PMID:34130719|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34327195|PMID:34416374|PMID:34426522|PMID:34448047|PMID:34599368|PMID:34638692|PMID:34721897|PMID:34781295|PMID:34837038|PMID:34906470|PMID:34948090|PMID:35076463|PMID:35106950|PMID:35114279|PMID:35266249|PMID:35672425|PMID:35802133|PMID:35836572|PMID:36011334|PMID:36284460|PMID:36314366|PMID:36362125|PMID:36460718|PMID:36633841|PMID:36785559|PMID:36819107|PMID:36909829|PMID:37322672|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0110838	Usher syndrome type 2A		ISO	RGD:736503	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: Usher syndrome type 2A	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18484607|PMID:18641288|PMID:18665192|PMID:18665195|PMID:18723146|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19788668|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20544672|PMID:20591486|PMID:20596040|PMID:20613545|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21487335|PMID:21569298|PMID:21593743|PMID:21681106|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22216297|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23029027|PMID:23352160|PMID:23591405|PMID:23661368|PMID:23661369|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24875298|PMID:24901346|PMID:24938718|PMID:24944099|PMID:24963352|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25373420|PMID:25375654|PMID:25388789|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26252086|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26747767|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27057829|PMID:27068579|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27353947|PMID:2746042|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27884173|PMID:27957503|PMID:28000701|PMID:28005958|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28281779|PMID:28430325|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28704108|PMID:28714225|PMID:28761320|PMID:28798898|PMID:28838317|PMID:28894305|PMID:28912962|PMID:28944237|PMID:28945494|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29151245|PMID:29178603|PMID:29196752|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29431110|PMID:29490346|PMID:29551606|PMID:29554876|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29847639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30073356|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30245926|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390381|PMID:30390570|PMID:30459346|PMID:30487145|PMID:30543658|PMID:30609409|PMID:30691450|PMID:30703234|PMID:30718709|PMID:30733538|PMID:30755392|PMID:30796641|PMID:30826590|PMID:30870047|PMID:30872814|PMID:30896630|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31031587|PMID:31045651|PMID:31047384|PMID:31054281|PMID:31106028|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31231422
8773079	Ush2a	usherin	gene	DOID:0110838	Usher syndrome type 2A		ISO	RGD:736503	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: Usher syndrome type 2A	PMID:31266775|PMID:31345219|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31541171|PMID:31589614|PMID:31674169|PMID:31699113|PMID:31736247|PMID:31816670|PMID:31817543|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31963381|PMID:3196484|PMID:31964843|PMID:31980526|PMID:31998945|PMID:32036094|PMID:3203739|PMID:32037395|PMID:32050993|PMID:32090030|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32141364|PMID:32176120|PMID:3218867|PMID:32188678|PMID:32203226|PMID:32319668|PMID:32326409|PMID:32340307|PMID:32467589|PMID:3248392|PMID:32483926|PMID:3253185|PMID:32531858|PMID:32552793|PMID:32566994|PMID:32579692|PMID:3258136|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32664777|PMID:3267506|PMID:32675063|PMID:327072|PMID:32707200|PMID:32747562|PMID:32749464|PMID:32767731|PMID:32853555|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33105617|PMID:33111345|PMID:33111992|PMID:33124170|PMID:33258288|PMID:33269433|PMID:33297549|PMID:33302505|PMID:33360097|PMID:33411470|PMID:33528103|PMID:33576794|PMID:33623043|PMID:33629268|PMID:33691693|PMID:33726816|PMID:33737949|PMID:33749171|PMID:33781268|PMID:33851411|PMID:33926394|PMID:33946315|PMID:34008892|PMID:34031601|PMID:34130719|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34315337|PMID:34327195|PMID:34376197|PMID:34416374|PMID:3442652|PMID:34426522|PMID:34440443|PMID:34448047|PMID:34599368|PMID:34638692|PMID:34721897|PMID:34758253|PMID:34781295|PMID:34791078|PMID:34800434|PMID:34824372|PMID:34837038|PMID:34906470|PMID:34948090|PMID:35052368|PMID:35052694|PMID:35062939|PMID:35076463|PMID:35106950|PMID:35114279|PMID:35152177|PMID:35248879|PMID:3526624|PMID:35266249|PMID:35314707|PMID:35345973|PMID:35452909|PMID:35456422|PMID:35656873|PMID:35672333|PMID:35672425|PMID:35802133|PMID:35836572|PMID:35870892|PMID:35982127|PMID:36003347|PMID:36011334|PMID:36051698|PMID:36110214|PMID:36284460|PMID:36284670|PMID:36314366|PMID:36362125|PMID:36460718|PMID:36464167|PMID:36597107|PMID:36633841|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:37217489|PMID:37217689|PMID:37287646|PMID:37322672|PMID:37558662|PMID:38219857|PMID:38347443|PMID:38576124|PMID:38927702|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0110838	Usher syndrome type 2A		ISO	RGD:736503	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: Usher syndrome type 2A	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18484607|PMID:18641288|PMID:18665192|PMID:18665195|PMID:18723146|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19788668|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20544672|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21151602|PMID:21228398|PMID:21270786|PMID:21487335|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22216297|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23029027|PMID:23352160|PMID:23591405|PMID:23661368|PMID:23661369|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24811962|PMID:24853665|PMID:24875298|PMID:24901346|PMID:24938718|PMID:24944099|PMID:24963352|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25373420|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25472526|PMID:25474345|PMID:25481835|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26252086|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26747767|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27057829|PMID:27068579|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27353947|PMID:2746042|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27884173|PMID:27957503|PMID:27981572|PMID:28000701|PMID:28005958|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28281779|PMID:28430325|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28704108|PMID:28714225|PMID:28761320|PMID:28798898|PMID:28838317|PMID:28894305|PMID:28912962|PMID:28944237|PMID:28945494|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29151245|PMID:29178603|PMID:29196752|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29431110|PMID:29490346|PMID:29551606|PMID:29554876|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29847639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30073356|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30245926|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390381|PMID:30390570|PMID:30459346|PMID:30487145|PMID:30543658|PMID:30609409|PMID:30691450|PMID:30703234|PMID:30718709|PMID:30733538|PMID:30755392|PMID:30796641|PMID:30826590|PMID:30870047|PMID:30872814|PMID:30896630|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31031587|PMID:31045651|PMID:31047384|PMID:31054281|PMID:31106028|PMID:31152317|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31345219|PMID:31370859|PMID:31429209
8773079	Ush2a	usherin	gene	DOID:0110838	Usher syndrome type 2A		ISO	RGD:736503	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: Usher syndrome type 2A	PMID:31456290|PMID:31541171|PMID:31589614|PMID:31674169|PMID:31699113|PMID:31736247|PMID:31816670|PMID:31817543|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31963381|PMID:31964843|PMID:31980526|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32050993|PMID:32090030|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32141364|PMID:32176120|PMID:3218867|PMID:32188678|PMID:32203226|PMID:32319668|PMID:32326409|PMID:32467589|PMID:3248392|PMID:32483926|PMID:3253185|PMID:32531858|PMID:32566994|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32664777|PMID:3267506|PMID:32675063|PMID:327072|PMID:32707200|PMID:32747562|PMID:32749464|PMID:32853555|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33105617|PMID:33111992|PMID:33124170|PMID:33247286|PMID:33258288|PMID:33269433|PMID:33297549|PMID:33302505|PMID:33360097|PMID:33411470|PMID:33528103|PMID:33535592|PMID:33576794|PMID:33608557|PMID:33623043|PMID:33629268|PMID:33691693|PMID:33708524|PMID:33726816|PMID:33737949|PMID:33749171|PMID:33781268|PMID:33851411|PMID:33946315|PMID:34008892|PMID:34031601|PMID:34130719|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34315337|PMID:34327195|PMID:34376197|PMID:34416374|PMID:3442652|PMID:34426522|PMID:34440443|PMID:34515852|PMID:34599368|PMID:34638692|PMID:34721897|PMID:34758253|PMID:34781295|PMID:34791078|PMID:34800434|PMID:34824372|PMID:34906470|PMID:34948090|PMID:35052368|PMID:35052694|PMID:35062939|PMID:35076463|PMID:35106950|PMID:35114279|PMID:35152177|PMID:35248879|PMID:3526624|PMID:35266249|PMID:35314707|PMID:35345973|PMID:35452909|PMID:35456422|PMID:35656873|PMID:35672333|PMID:35672425|PMID:35802133|PMID:35836572|PMID:35870892|PMID:35982127|PMID:36011334|PMID:36051698|PMID:36110214|PMID:36284460|PMID:36284670|PMID:36314366|PMID:36362125|PMID:36460718|PMID:36464167|PMID:36597107|PMID:36633841|PMID:36669873|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:37217489|PMID:37217689|PMID:37287646|PMID:37322672|PMID:37466950|PMID:37558662|PMID:37684519|PMID:37734845|PMID:38219857|PMID:38347443|PMID:38576124|PMID:38879497|PMID:38927702|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0110838	Usher syndrome type 2A		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A | ClinVar Annotator: match by term: Usher syndrome, type 2A | ClinVar Annotator: match by term: Usher syndrome, type IIA	PMID:1022720|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18484607|PMID:18641288|PMID:18665192|PMID:18665195|PMID:18723146|PMID:19023448|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19788668|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20801516|PMID:21151602|PMID:21487335|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22216297|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23029027|PMID:23352160|PMID:23591405|PMID:23661368|PMID:23661369|PMID:23737954|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24875298|PMID:24901346|PMID:24938718|PMID:24944099|PMID:24963352|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25211151|PMID:25252889|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25373420|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25472526|PMID:25474345|PMID:25481835|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26416264|PMID:26445815|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27057829|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27353947|PMID:2746042|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28000701|PMID:28005958|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28604982|PMID:28653555|PMID:28678594|PMID:28704108|PMID:28714225|PMID:28761320|PMID:28798898|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28945494|PMID:28981474|PMID:28984810|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29151245|PMID:29178603|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29330858|PMID:29343940|PMID:29431110|PMID:29490346|PMID:29535388|PMID:29554876|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29785639|PMID:29847639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30073356|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30245926|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390381|PMID:30390570|PMID:30459346|PMID:30487145|PMID:30543658|PMID:30609409|PMID:30691450|PMID:30703234|PMID:30718709|PMID:30733538|PMID:30755392|PMID:30796641|PMID:30826590|PMID:30870047|PMID:30872814|PMID:30896630|PMID:30902645|PMID:30924848|PMID:3094879|PMID:30948794|PMID:31031587|PMID:31045651|PMID:31047384|PMID:31054281|PMID:31106028|PMID:31160754|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31345219|PMID:31370859|PMID:31387071|PMID:31429209|PMID:31456290|PMID:31541171|PMID:31589614|PMID:31674169|PMID:31736247|PMID:31766479|PMID:31816670|PMID:31817543|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31963381|PMID:31964843|PMID:31980526|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32050993
8773079	Ush2a	usherin	gene	DOID:0110838	Usher syndrome type 2A		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A | ClinVar Annotator: match by term: Usher syndrome, type 2A | ClinVar Annotator: match by term: Usher syndrome, type IIA	PMID:32090030|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32141364|PMID:32176120|PMID:3218867|PMID:32188678|PMID:32203226|PMID:32319668|PMID:32326409|PMID:32340307|PMID:32449591|PMID:32467589|PMID:32483926|PMID:32531858|PMID:32566994|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32664777|PMID:32675063|PMID:32707200|PMID:32747562|PMID:32749464|PMID:32802042|PMID:32853555|PMID:32856788|PMID:32893482|PMID:32995707|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33105617|PMID:33111992|PMID:33124170|PMID:33247286|PMID:33258288|PMID:33302505|PMID:33360097|PMID:33411470|PMID:33528103|PMID:33535592|PMID:33576794|PMID:33608557|PMID:33623043|PMID:33629268|PMID:33691693|PMID:33708524|PMID:33726816|PMID:33737949|PMID:33749171|PMID:33781268|PMID:33851411|PMID:33946315|PMID:34031601|PMID:34130719|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34230634|PMID:34315337|PMID:34327195|PMID:34416374|PMID:34426522|PMID:34448047|PMID:34515852|PMID:34599368|PMID:34638692|PMID:34721897|PMID:34758253|PMID:34781295|PMID:34800434|PMID:34824372|PMID:34906470|PMID:34948090|PMID:34997062|PMID:35052368|PMID:35052694|PMID:35062939|PMID:35076463|PMID:35106950|PMID:35114279|PMID:35243413|PMID:35248879|PMID:3526624|PMID:35266249|PMID:35314707|PMID:35345973|PMID:35452909|PMID:35456422|PMID:35457016|PMID:35656873|PMID:35672333|PMID:35672425|PMID:35682719|PMID:35802133|PMID:35836572|PMID:35870892|PMID:35982127|PMID:36003347|PMID:36011334|PMID:36011402|PMID:36034145|PMID:36051698|PMID:36110214|PMID:36140798|PMID:36196406|PMID:36284460|PMID:36284670|PMID:36362125|PMID:36460718|PMID:36464167|PMID:36597107|PMID:36633841|PMID:36646238|PMID:36672815|PMID:36729443|PMID:36785559|PMID:36819107|PMID:36875754|PMID:36909829|PMID:36918699|PMID:37217489|PMID:37217689|PMID:37287646|PMID:37322672|PMID:37446072|PMID:37466950|PMID:37506127|PMID:37510321|PMID:37558662|PMID:37648803|PMID:37734845|PMID:37798099|PMID:37976142|PMID:37981655|PMID:37996878|PMID:38088826|PMID:38189974|PMID:38219857|PMID:38224868|PMID:38282009|PMID:38347443|PMID:38465142|PMID:38531366|PMID:38576124|PMID:38819824|PMID:38879497|PMID:38927562|PMID:38927702|PMID:38987893|PMID:39103200|PMID:39182490|PMID:39333430|PMID:39337481|PMID:39394491|PMID:39443691|PMID:39462066|PMID:39498320|PMID:39560289|PMID:39596236|PMID:39643591|PMID:39676705|PMID:39806488|PMID:40296824|PMID:40339601|PMID:40607868|PMID:40797289|PMID:41060150|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:0110838	Usher syndrome type 2A	susceptibility	ISO	RGD:736503	D	RGD:9068941	20200609	RGD		DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)	PMID:9624053|REF_RGD_ID:8547987
8773079	Ush2a	usherin	gene	DOID:0110838	Usher syndrome type 2A	susceptibility	ISO	RGD:736503	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:10729113|REF_RGD_ID:8547961
8773079	Ush2a	usherin	gene	DOID:0110840	Usher syndrome type 2D		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Usher syndrome type 2D | ClinVar Annotator: match by term: Usher syndrome, type 2D	PMID:10729113|PMID:15015129|PMID:15043528|PMID:15241801|PMID:15325563|PMID:16963483|PMID:18641288|PMID:20301515|PMID:22135276|PMID:22334370|PMID:24033266|PMID:24265693|PMID:24498627|PMID:24944099|PMID:25649381|PMID:25741868|PMID:25999674|PMID:27460420|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28761320|PMID:30190494|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32176120|PMID:32707200|PMID:32853555|PMID:33360097|PMID:33576794|PMID:33749171|PMID:34758253|PMID:34781295|PMID:35266249|PMID:36011334|PMID:36284670|PMID:36819107
8773079	Ush2a	usherin	gene	DOID:0111013	cone-rod dystrophy 3		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy 3	PMID:25741868
8773079	Ush2a	usherin	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:736503	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:10729113|PMID:10909849|PMID:16199547|PMID:17085681|PMID:17405132|PMID:18273898|PMID:19881469|PMID:20145675|PMID:20507924|PMID:22025579|PMID:24033266|PMID:24944099|PMID:25097241|PMID:25472526|PMID:25649381|PMID:25741868|PMID:26969326|PMID:28492532|PMID:28944237|PMID:32531858
8773079	Ush2a	usherin	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:16199547|PMID:17296898|PMID:17405132|PMID:18452394|PMID:18641288|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22004887|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25356976|PMID:25404053|PMID:25472526|PMID:25575603|PMID:25649381|PMID:25741868|PMID:26352687|PMID:26629787|PMID:26872967|PMID:26969326|PMID:27344577|PMID:27460420|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:28944237|PMID:29151245|PMID:29490346|PMID:29847639|PMID:29899460|PMID:29953849|PMID:30311386|PMID:30337596|PMID:30718709|PMID:30755392|PMID:31231422|PMID:31266775|PMID:31429209|PMID:31589614|PMID:31816670|PMID:31827275|PMID:31836858|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32176120|PMID:32531858|PMID:32581362|PMID:32664777|PMID:32853555|PMID:33089500|PMID:33302505|PMID:33411470|PMID:33576794|PMID:33749171|PMID:34148116|PMID:34426522|PMID:34758253|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35345973|PMID:35456422|PMID:35836572|PMID:36011334|PMID:36460718|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:10283	prostate cancer		ISO	RGD:736503	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8773079	Ush2a	usherin	gene	DOID:10534	stomach cancer		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736503	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31699113|PMID:31836858|PMID:31872526|PMID:31960602|PMID:31998945|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32581362|PMID:32646269|PMID:33105608|PMID:33111992|PMID:34031601|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736503	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31836858|PMID:31872526|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32646269|PMID:33089500|PMID:33105608|PMID:33111992|PMID:33576794|PMID:34031601|PMID:34203883|PMID:34426522|PMID:34638692|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736503	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31836858|PMID:31872526|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:33089500|PMID:33105608|PMID:33111992|PMID:33576794|PMID:33749171|PMID:34031601|PMID:34203883|PMID:34426522|PMID:34638692|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736503	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31836858|PMID:31872526|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:33089500|PMID:33105608|PMID:33111992|PMID:33576794|PMID:33749171|PMID:34031601|PMID:34203883|PMID:34426522|PMID:34638692|PMID:34948090|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736503	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111992|PMID:33124170|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33926394|PMID:34031601|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34426522|PMID:34638692|PMID:34948090|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736503	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32483926|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111992|PMID:33124170|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33926394|PMID:34031601|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34426522|PMID:34638692|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35672425|PMID:36314366|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736503	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29196752|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31817543|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32483926|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111992|PMID:33124170|PMID:33247286|PMID:33269433|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33926394|PMID:34008892|PMID:34031601|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34426522|PMID:34638692|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35672425|PMID:36011334|PMID:36284460|PMID:36314366|PMID:36362125|PMID:36460718|PMID:36909829|PMID:37322672|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736503	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29196752|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31817543|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32483926|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111992|PMID:33124170|PMID:33247286|PMID:33269433|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33926394|PMID:34008892|PMID:34031601|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34426522|PMID:34638692|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35672425|PMID:36011334|PMID:36284460|PMID:36314366|PMID:36362125|PMID:36460718|PMID:36909829|PMID:37322672|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736503	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29196752|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31817543|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32483926|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111992|PMID:33124170|PMID:33247286|PMID:33269433|PMID:33576794|PMID:33623043|PMID:33691693|PMID:33749171|PMID:33926394|PMID:34008892|PMID:34031601|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34426522|PMID:34638692|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35672425|PMID:36011334|PMID:36110214|PMID:36284460|PMID:36314366|PMID:36362125|PMID:36460718|PMID:36464167|PMID:36909829|PMID:37322672|PMID:38219857|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736503	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29196752|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31817543|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32483926|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32749464|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111992|PMID:33124170|PMID:33247286|PMID:33269433|PMID:33576794|PMID:33623043|PMID:33691693|PMID:33749171|PMID:33926394|PMID:34008892|PMID:34031601|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34426522|PMID:34638692|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35672425|PMID:36011334|PMID:36110214|PMID:36284460|PMID:36314366|PMID:36362125|PMID:36460718|PMID:36464167|PMID:36597107|PMID:36909829|PMID:37322672|PMID:38219857|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736503	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:24963352|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26252086|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27057829|PMID:27068579|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28945494|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29151245|PMID:29196752|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29431110|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29847639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30390570|PMID:30459346|PMID:30487145|PMID:30543658|PMID:30609409|PMID:30703234|PMID:30718709|PMID:30755392|PMID:30872814|PMID:30896630|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31045651|PMID:31047384|PMID:31054281|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31541171|PMID:31589614|PMID:31699113|PMID:31736247|PMID:31816670|PMID:31817543|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31963381|PMID:31964843|PMID:31980526|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32050993|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32141364|PMID:32176120|PMID:32188678|PMID:32203226|PMID:32326409|PMID:32483926|PMID:32531858|PMID:32552793|PMID:32566994|PMID:3258136|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32664777|PMID:32675063|PMID:32707200|PMID:32749464|PMID:32853555|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33105617|PMID:33111992|PMID:33124170|PMID:33247286|PMID:33258288|PMID:33269433|PMID:33302505|PMID:33360097|PMID:33411470|PMID:33576794|PMID:33623043|PMID:33629268|PMID:33691693|PMID:33737949|PMID:33749171
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736503	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:33781268|PMID:33851411|PMID:33926394|PMID:33946315|PMID:34008892|PMID:34031601|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34327195|PMID:34376197|PMID:34416374|PMID:34426522|PMID:34599368|PMID:34638692|PMID:34721897|PMID:34758253|PMID:34781295|PMID:34824372|PMID:34906470|PMID:34948090|PMID:35052368|PMID:35052694|PMID:35062939|PMID:35152177|PMID:35248879|PMID:3526624|PMID:35266249|PMID:35314707|PMID:35345973|PMID:35452909|PMID:35456422|PMID:35672333|PMID:35672425|PMID:35836572|PMID:35870892|PMID:35982127|PMID:36003347|PMID:36011334|PMID:36051698|PMID:36110214|PMID:36284460|PMID:36284670|PMID:36314366|PMID:36362125|PMID:36460718|PMID:36464167|PMID:36597107|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:37322672|PMID:38219857|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736503	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:33781268|PMID:33851411|PMID:33926394|PMID:33946315|PMID:34008892|PMID:34031601|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34327195|PMID:34376197|PMID:34416374|PMID:34426522|PMID:34599368|PMID:34638692|PMID:34721897|PMID:34758253|PMID:34781295|PMID:34824372|PMID:34906470|PMID:34948090|PMID:35052368|PMID:35052694|PMID:35062939|PMID:35152177|PMID:35248879|PMID:3526624|PMID:35266249|PMID:35314707|PMID:35345973|PMID:35452909|PMID:35456422|PMID:35672333|PMID:35672425|PMID:35836572|PMID:35870892|PMID:35982127|PMID:36003347|PMID:36011334|PMID:36051698|PMID:36110214|PMID:36284460|PMID:36284670|PMID:36314366|PMID:36362125|PMID:36460718|PMID:36464167|PMID:36597107|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:37322672|PMID:37734845|PMID:38219857|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736503	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:33781268|PMID:33851411|PMID:33926394|PMID:33946315|PMID:34008892|PMID:34031601|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34327195|PMID:34376197|PMID:34416374|PMID:34426522|PMID:34599368|PMID:34638692|PMID:34721897|PMID:34758253|PMID:34781295|PMID:34824372|PMID:34906470|PMID:34948090|PMID:35052368|PMID:35052694|PMID:35062939|PMID:35152177|PMID:35248879|PMID:3526624|PMID:35266249|PMID:35314707|PMID:35345973|PMID:35452909|PMID:35456422|PMID:35672333|PMID:35672425|PMID:35836572|PMID:35870892|PMID:35982127|PMID:36003347|PMID:36011334|PMID:36051698|PMID:36110214|PMID:36284460|PMID:36284670|PMID:36314366|PMID:36362125|PMID:36460718|PMID:36464167|PMID:36597107|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:37217489|PMID:37322672|PMID:37734845|PMID:38219857|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736503	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15146472|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:17666888|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18463683|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24158611|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24529908|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:24963352|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26096904|PMID:26252086|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27057829|PMID:27068579|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27460420|PMID:27596865|PMID:27734839|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28945494|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29151245|PMID:29196752|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29431110|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29847639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30390570|PMID:30459346|PMID:30487145|PMID:30543658|PMID:30609409|PMID:30703234|PMID:30718709|PMID:30755392|PMID:30872814|PMID:30896630|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31045651|PMID:31047384|PMID:31054281|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31541171|PMID:31589614|PMID:31699113|PMID:31736247|PMID:31816670|PMID:31817543|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31963381|PMID:31964843|PMID:31980526|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32050993|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32141364|PMID:32176120|PMID:32188678|PMID:32203226|PMID:32326409|PMID:32367058|PMID:32483926|PMID:32531858|PMID:32552793|PMID:32566994|PMID:3258136|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32664777|PMID:32675063|PMID:32707200|PMID:32749464|PMID:32853555|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33105617|PMID:33124170|PMID:33247286|PMID:33258288|PMID:33269433|PMID:33302505|PMID:33360097
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736503	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:33411470|PMID:33576794|PMID:33623043|PMID:33629268|PMID:33691693|PMID:33737949|PMID:33749171|PMID:33781268|PMID:33851411|PMID:33926394|PMID:33946315|PMID:34008892|PMID:34031601|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34327195|PMID:34376197|PMID:34416374|PMID:34426522|PMID:34599368|PMID:34638692|PMID:34721897|PMID:34758253|PMID:34781295|PMID:34824372|PMID:34906470|PMID:34948090|PMID:35052368|PMID:35052694|PMID:35062939|PMID:35152177|PMID:35248879|PMID:3526624|PMID:35266249|PMID:35314707|PMID:35345973|PMID:35452909|PMID:35456422|PMID:35672333|PMID:35672425|PMID:35836572|PMID:35870892|PMID:35982127|PMID:36003347|PMID:36011334|PMID:36051698|PMID:36110214|PMID:36284460|PMID:36284670|PMID:36314366|PMID:36362125|PMID:36460718|PMID:36464167|PMID:36597107|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:37217489|PMID:37322672|PMID:37734845|PMID:38219857|PMID:8477259|PMID:9285800|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736503	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24811962|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:24963352|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26252086|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27057829|PMID:27068579|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28945494|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29151245|PMID:29196752|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29431110|PMID:29490346|PMID:29551606|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29847639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30390570|PMID:30459346|PMID:30487145|PMID:30543658|PMID:30609409|PMID:30703234|PMID:30718709|PMID:30755392|PMID:30872814|PMID:30896630|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31045651|PMID:31047384|PMID:31054281|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31541171|PMID:31589614|PMID:31699113|PMID:31736247|PMID:31816670|PMID:31817543|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31963381|PMID:31964843|PMID:31980526|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32050993|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32141364|PMID:32176120|PMID:32188678|PMID:32203226|PMID:32326409|PMID:32483926|PMID:32531858|PMID:32552793|PMID:32566994|PMID:3258136|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32664777|PMID:32675063|PMID:32707200|PMID:32749464|PMID:32853555|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33105617|PMID:33124170|PMID:33247286|PMID:33258288|PMID:33269433|PMID:33302505|PMID:33360097|PMID:33411470|PMID:33576794|PMID:33623043|PMID:33629268|PMID:33691693|PMID:33737949
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736503	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:33749171|PMID:33781268|PMID:33851411|PMID:33926394|PMID:33946315|PMID:34008892|PMID:34031601|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34327195|PMID:34376197|PMID:34416374|PMID:34426522|PMID:34599368|PMID:34638692|PMID:34721897|PMID:34758253|PMID:34781295|PMID:34824372|PMID:34906470|PMID:34948090|PMID:35052368|PMID:35052694|PMID:35062939|PMID:35114279|PMID:35152177|PMID:35248879|PMID:3526624|PMID:35266249|PMID:35314707|PMID:35345973|PMID:35452909|PMID:35456422|PMID:35672333|PMID:35672425|PMID:35836572|PMID:35870892|PMID:35982127|PMID:36003347|PMID:36011334|PMID:36051698|PMID:36110214|PMID:36284460|PMID:36284670|PMID:36314366|PMID:36362125|PMID:36460718|PMID:36464167|PMID:36597107|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:37217489|PMID:37322672|PMID:37644014|PMID:37734845|PMID:38219857|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736503	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24811962|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:24963352|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25472526|PMID:25474345|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26252086|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27057829|PMID:27068579|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28945494|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29151245|PMID:29196752|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29431110|PMID:29490346|PMID:29551606|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29847639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30390570|PMID:30459346|PMID:30487145|PMID:30543658|PMID:30609409|PMID:30703234|PMID:30718709|PMID:30755392|PMID:30872814|PMID:30896630|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31045651|PMID:31047384|PMID:31054281|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31541171|PMID:31589614|PMID:31699113|PMID:31736247|PMID:31816670|PMID:31817543|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31963381|PMID:31964843|PMID:31980526|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32050993|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32141364|PMID:32176120|PMID:32188678|PMID:32203226|PMID:32326409|PMID:32483926|PMID:32531858|PMID:32566994|PMID:32581362|PMID:32646269|PMID:32664777|PMID:32675063|PMID:32707200|PMID:32749464|PMID:32853555|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33105617|PMID:33124170|PMID:33247286|PMID:33258288|PMID:33269433|PMID:33302505|PMID:33360097|PMID:33411470|PMID:33576794|PMID:33623043|PMID:33629268|PMID:33691693|PMID:33737949|PMID:33749171|PMID:33781268|PMID:33851411|PMID:33946315|PMID:34008892|PMID:34031601|PMID:34148116|PMID:34203883|PMID:34203967
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736503	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:34327195|PMID:34376197|PMID:34416374|PMID:34426522|PMID:34599368|PMID:34638692|PMID:34721897|PMID:34758253|PMID:34781295|PMID:34824372|PMID:34906470|PMID:34948090|PMID:35052368|PMID:35052694|PMID:35062939|PMID:35152177|PMID:35248879|PMID:3526624|PMID:35266249|PMID:35314707|PMID:35345973|PMID:35452909|PMID:35456422|PMID:35672333|PMID:35672425|PMID:35836572|PMID:35870892|PMID:35982127|PMID:36011334|PMID:36051698|PMID:36110214|PMID:36284460|PMID:36284670|PMID:36314366|PMID:36362125|PMID:36460718|PMID:36464167|PMID:36597107|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:37217489|PMID:37322672|PMID:37644014|PMID:37734845|PMID:38219857|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10729113|PMID:10738000|PMID:10909849|PMID:15241801|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:18273898|PMID:19023448|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20309401|PMID:20507924|PMID:20591486|PMID:21569298|PMID:22004887|PMID:22025579|PMID:23591405|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24164807|PMID:24227914|PMID:24625443|PMID:24811962|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25324289|PMID:25333064|PMID:25412400|PMID:25472526|PMID:25649381|PMID:25741868|PMID:25999674|PMID:26633545|PMID:26667666|PMID:26927203|PMID:26969326|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:28041643|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28559085|PMID:28838317|PMID:28944237|PMID:29196752|PMID:29625443|PMID:30054919|PMID:30718709|PMID:30948794|PMID:31213501|PMID:31266775|PMID:31456290|PMID:31736247|PMID:31836858|PMID:31877679|PMID:31964843|PMID:31998945|PMID:32037395|PMID:32188678|PMID:32531858|PMID:32581362|PMID:32675063|PMID:33090715|PMID:33105608|PMID:33124170|PMID:33247286|PMID:33269433|PMID:33576794|PMID:33926394|PMID:34203967|PMID:34426522|PMID:34781295|PMID:34906470|PMID:35243413|PMID:35266249|PMID:36011334|PMID:36110214|PMID:36284460|PMID:36460718|PMID:36464167|PMID:36729443|PMID:36785559|PMID:36819107|PMID:36909829|PMID:37009079|PMID:37217489|PMID:37431782|PMID:37644014|PMID:37996878|PMID:38219857|PMID:39004944|PMID:39182490
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10729113|PMID:10738000|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:18273898|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20309401|PMID:20507924|PMID:20591486|PMID:20801516|PMID:21569298|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22581970|PMID:23591405|PMID:23804846|PMID:23924366|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24607488|PMID:24625443|PMID:24811962|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25252889|PMID:2525289|PMID:25262649|PMID:25324289|PMID:25333064|PMID:25404053|PMID:25412400|PMID:25445212|PMID:25472526|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25999674|PMID:26338283|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27057829|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27460420|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:29151245|PMID:29196752|PMID:29490346|PMID:29625443|PMID:29847639|PMID:29953849|PMID:30054919|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30718709|PMID:30755392|PMID:30948794|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31816670|PMID:31827275|PMID:31836858|PMID:31963381|PMID:31964843|PMID:31980526|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32176120|PMID:32188678|PMID:32326409|PMID:32531858|PMID:32566994|PMID:32581362|PMID:32664777|PMID:32675063|PMID:32853555|PMID:32995707|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33124170|PMID:33302505|PMID:33411470|PMID:33576794|PMID:33691693|PMID:33749171|PMID:34008892|PMID:34148116|PMID:34203967|PMID:34426522|PMID:34758253|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35243413|PMID:35266249|PMID:35345973|PMID:35456422|PMID:35457016|PMID:35836572|PMID:36011334|PMID:36110214|PMID:36284460|PMID:36460718|PMID:36464167|PMID:36672815|PMID:36729443|PMID:36785559|PMID:36819107|PMID:36909829|PMID:37009079|PMID:37217489|PMID:37644014|PMID:37996878|PMID:38219857|PMID:39182490|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa	susceptibility	ISO	RGD:736503	D	RGD:9068941	20200609	RGD		DNA:missense mutation, snp:cds, intron:p.G1734R, g.IVS32+1G>A (human)	PMID:20309401|REF_RGD_ID:8547963
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa	susceptibility	ISO	RGD:736503	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C759F (human)	PMID:10775529|REF_RGD_ID:8547967
8773079	Ush2a	usherin	gene	DOID:10584	retinitis pigmentosa	susceptibility	ISO	RGD:736503	D	RGD:9068941	20200609	RGD		DNA:snps, deletions, insertion:multiple (human)	PMID:20507924|REF_RGD_ID:8547966
8773079	Ush2a	usherin	gene	DOID:1115	sarcoma		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8773079	Ush2a	usherin	gene	DOID:11830	myopia		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:10729113|PMID:10909849|PMID:20507924|PMID:25649381|PMID:25741868|PMID:28492532
8773079	Ush2a	usherin	gene	DOID:12849	autistic disorder		ISO	RGD:736503	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:10729113|PMID:10909849|PMID:17085681|PMID:17405132|PMID:18273898|PMID:19881469|PMID:20145675|PMID:20507924|PMID:22025579|PMID:24033266|PMID:25097241|PMID:25472526|PMID:25649381|PMID:25741868|PMID:26969326|PMID:28492532|PMID:28944237
8773079	Ush2a	usherin	gene	DOID:12849	autistic disorder		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:10729113|PMID:10909849|PMID:20507924|PMID:24033266|PMID:24944099|PMID:25649381|PMID:25741868|PMID:27460420|PMID:28492532|PMID:30311386
8773079	Ush2a	usherin	gene	DOID:1324	lung cancer		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8773079	Ush2a	usherin	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:736503	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:10729113|PMID:10909849|PMID:17085681|PMID:18273898|PMID:20507924|PMID:22334370|PMID:24033266|PMID:25078356|PMID:25133751|PMID:25324289|PMID:25404053|PMID:25445212|PMID:25649381|PMID:25741868|PMID:26927203|PMID:27057829|PMID:27957503|PMID:28492532|PMID:28512305|PMID:30718709|PMID:30870047|PMID:33105608|PMID:33691693
8773079	Ush2a	usherin	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:736503	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:10729113|PMID:10909849|PMID:17085681|PMID:18273898|PMID:20507924|PMID:22334370|PMID:24033266|PMID:25078356|PMID:25133751|PMID:25324289|PMID:25404053|PMID:25445212|PMID:25525159|PMID:25649381|PMID:25741868|PMID:26927203|PMID:27057829|PMID:27957503|PMID:28492532|PMID:28512305|PMID:30718709|PMID:30870047|PMID:31964843|PMID:32675063|PMID:33090715|PMID:33105608|PMID:33124170|PMID:33576794|PMID:33691693|PMID:34781295
8773079	Ush2a	usherin	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:736503	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:10729113|PMID:10909849|PMID:16098008|PMID:17085681|PMID:18273898|PMID:20507924|PMID:22334370|PMID:24033266|PMID:25078356|PMID:25133751|PMID:25324289|PMID:25404053|PMID:25445212|PMID:25525159|PMID:25649381|PMID:25741868|PMID:26927203|PMID:27057829|PMID:27957503|PMID:28492532|PMID:28512305|PMID:30718709|PMID:30870047|PMID:31964843|PMID:32675063|PMID:33090715|PMID:33105608|PMID:33124170|PMID:33576794|PMID:33691693|PMID:34781295
8773079	Ush2a	usherin	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:10729113|PMID:10909849|PMID:16098008|PMID:17085681|PMID:20507924|PMID:24033266|PMID:25133751|PMID:25404053|PMID:25445212|PMID:25649381|PMID:25741868|PMID:27057829|PMID:28492532|PMID:30870047|PMID:33691693|PMID:34795310
8773079	Ush2a	usherin	gene	DOID:1909	melanoma		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8773079	Ush2a	usherin	gene	DOID:2030	anxiety disorder		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:26629787|PMID:26872967|PMID:26969326|PMID:27344577|PMID:27460420|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28761320|PMID:28838317|PMID:29151245|PMID:29847639|PMID:29953849|PMID:30337596|PMID:30718709|PMID:30755392|PMID:31231422|PMID:31266775|PMID:31429209|PMID:31589614|PMID:31816670|PMID:31827275|PMID:31836858|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32176120|PMID:32531858|PMID:32581362|PMID:32664777|PMID:32853555|PMID:33089500|PMID:33302505|PMID:33411470|PMID:33576794|PMID:33749171|PMID:34148116|PMID:34426522|PMID:34758253|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35345973|PMID:35456422|PMID:35836572|PMID:36011334|PMID:36460718|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Head-banging	PMID:10729113|PMID:10909849|PMID:20507924|PMID:24944099|PMID:25649381|PMID:25741868|PMID:28492532
8773079	Ush2a	usherin	gene	DOID:3275	thymoma		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8773079	Ush2a	usherin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8773079	Ush2a	usherin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8773079	Ush2a	usherin	gene	DOID:4448	macular degeneration		ISO	RGD:736503	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Macular degeneration	PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26629787|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:34906470|PMID:36011334|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:4448	macular degeneration		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:26629787|PMID:26872967|PMID:26969326|PMID:27344577|PMID:27460420|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28761320|PMID:28838317|PMID:29151245|PMID:29847639|PMID:29953849|PMID:30337596|PMID:30718709|PMID:30755392|PMID:31231422|PMID:31266775|PMID:31429209|PMID:31589614|PMID:31816670|PMID:31827275|PMID:31836858|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32176120|PMID:32531858|PMID:32581362|PMID:32664777|PMID:32853555|PMID:33089500|PMID:33302505|PMID:33411470|PMID:33576794|PMID:33749171|PMID:34148116|PMID:34426522|PMID:34758253|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35345973|PMID:35456422|PMID:35836572|PMID:36011334|PMID:36460718|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:535	sleep disorder		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:10729113|PMID:10909849|PMID:20507924|PMID:24944099|PMID:25649381|PMID:25741868|PMID:28492532
8773079	Ush2a	usherin	gene	DOID:5679	retinal disease		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:10729113|PMID:10909849|PMID:11311042|PMID:14676276|PMID:14970843|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:16199547|PMID:16963483|PMID:18273898|PMID:18641288|PMID:19683999|PMID:19881469|PMID:20507924|PMID:21569298|PMID:22135276|PMID:23940504|PMID:24033266|PMID:24944099|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26806561|PMID:26927203|PMID:26969326|PMID:27068579|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28574513|PMID:28944237|PMID:30459346|PMID:30718709|PMID:31266775|PMID:31964843|PMID:32037395|PMID:33089500|PMID:33576794|PMID:34203967|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35452909|PMID:36011334|PMID:36460718|PMID:36819107|PMID:38347443
8773079	Ush2a	usherin	gene	DOID:5723	optic atrophy		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:26629787|PMID:26872967|PMID:26969326|PMID:27344577|PMID:27460420|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28761320|PMID:28838317|PMID:29151245|PMID:29847639|PMID:29953849|PMID:30337596|PMID:30718709|PMID:30755392|PMID:31231422|PMID:31266775|PMID:31429209|PMID:31589614|PMID:31816670|PMID:31827275|PMID:31836858|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32176120|PMID:32531858|PMID:32581362|PMID:32664777|PMID:32853555|PMID:33089500|PMID:33302505|PMID:33411470|PMID:33576794|PMID:33749171|PMID:34148116|PMID:34426522|PMID:34758253|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35345973|PMID:35456422|PMID:35836572|PMID:36011334|PMID:36460718|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773079	Ush2a	usherin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8773079	Ush2a	usherin	gene	DOID:630	genetic disease		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17296898|PMID:17405132|PMID:18641288|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23591405|PMID:23924366|PMID:24033266|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25333064|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:26629787|PMID:26872967|PMID:26969326|PMID:27344577|PMID:27460420|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28653555|PMID:28761320|PMID:28838317|PMID:28944237|PMID:29151245|PMID:29847639|PMID:29953849|PMID:30337596|PMID:30718709|PMID:30755392|PMID:31231422|PMID:31266775|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31816670|PMID:31827275|PMID:31836858|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32581362|PMID:32664777|PMID:32853555|PMID:33089500|PMID:33302505|PMID:33411470|PMID:33576794|PMID:33749171|PMID:34148116|PMID:34426522|PMID:34758253|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35345973|PMID:35456422|PMID:35836572|PMID:36011334|PMID:36460718|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8773079	Ush2a	usherin	gene	DOID:784	chronic kidney disease		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:23804846|PMID:24033266|PMID:25741868|PMID:27460420|PMID:28041643|PMID:28492532|PMID:34426522
8773079	Ush2a	usherin	gene	DOID:83	cataract		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:10729113|PMID:10909849|PMID:17296898|PMID:17405132|PMID:18641288|PMID:20507924|PMID:23591405|PMID:24033266|PMID:24944099|PMID:25333064|PMID:25575603|PMID:25649381|PMID:25741868|PMID:27460420|PMID:28130426|PMID:28492532|PMID:28653555|PMID:28944237|PMID:31456290|PMID:31589614|PMID:31964843|PMID:32037395|PMID:32531858|PMID:33576794|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249
8773079	Ush2a	usherin	gene	DOID:8499	night blindness		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Night blindness	PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:16199547|PMID:17296898|PMID:17405132|PMID:18641288|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22004887|PMID:22135276|PMID:22581970|PMID:23591405|PMID:23924366|PMID:24033266|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25333064|PMID:25404053|PMID:25472526|PMID:25575603|PMID:25649381|PMID:25741868|PMID:26352687|PMID:26629787|PMID:26872967|PMID:26969326|PMID:27344577|PMID:27460420|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28838317|PMID:28944237|PMID:29151245|PMID:29847639|PMID:29899460|PMID:29953849|PMID:30337596|PMID:30718709|PMID:30755392|PMID:31231422|PMID:31266775|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31816670|PMID:31827275|PMID:31836858|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32176120|PMID:32531858|PMID:32581362|PMID:32664777|PMID:32853555|PMID:33089500|PMID:33302505|PMID:33411470|PMID:33576794|PMID:33749171|PMID:34148116|PMID:34426522|PMID:34758253|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35345973|PMID:35456422|PMID:35836572|PMID:36011334|PMID:36460718|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:8501	fundus dystrophy		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10729113|PMID:10738000|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:12786748|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18452394|PMID:18641288|PMID:19023448|PMID:19129697|PMID:19683999|PMID:19737284|PMID:20052763|PMID:20145675|PMID:20301515|PMID:20309401|PMID:20507924|PMID:21569298|PMID:22004887|PMID:22009552|PMID:22135276|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:23591405|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23967202|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24607488|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25352746|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25521520|PMID:2552515|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26338283|PMID:26355662|PMID:26467025|PMID:26559128|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27057829|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:2746042|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28000701|PMID:28005958|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:28984810|PMID:29074561|PMID:29142287|PMID:29151245|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29847639|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30073356|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30543658|PMID:30718709|PMID:30733538|PMID:30755392|PMID:30902645|PMID:30924848|PMID:31047384|PMID:31054281|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31816670|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31904091|PMID:31960602|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32176120|PMID:3218867|PMID:32188678|PMID:32326409|PMID:3248392|PMID:32483926|PMID:3253185|PMID:32531858|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32664777|PMID:3267506|PMID:32675063|PMID:32707200|PMID:32853555|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33124170|PMID:33247286|PMID:33269433|PMID:33297549|PMID:33302505|PMID:33360097|PMID:33411470|PMID:33528103|PMID:33576794|PMID:33629268|PMID:33691693|PMID:33749171|PMID:33781268|PMID:33851411|PMID:34148116|PMID:34203967|PMID:34315337|PMID:3442652|PMID:34426522|PMID:34440443|PMID:34448047|PMID:34638692|PMID:34721897|PMID:34758253|PMID:34781295|PMID:34791078|PMID:34837038|PMID:34906470|PMID:3494809|PMID:34948090|PMID:35076463|PMID:35243413|PMID:3526624|PMID:35266249|PMID:35345973|PMID:35456422|PMID:35656873|PMID:35836572|PMID:36011334|PMID:36011402|PMID:36284460|PMID:36284670|PMID:36460718|PMID:36524988|PMID:36555390|PMID:36646238|PMID:36669873|PMID:36672815|PMID:3678555|PMID:36785559|PMID:36819107|PMID:36909829|PMID:37086329|PMID:37217489|PMID:37217689|PMID:37684519|PMID:37734845|PMID:37996878|PMID:38016437|PMID:38219857|PMID:38576124|PMID:38927702|PMID:39182490|PMID:39202371|PMID:39462066|PMID:7460420|PMID:9536098|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:9000343	Vision Disorders		ISO	RGD:736503	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: visual impairment	
8773079	Ush2a	usherin	gene	DOID:9002134	Heart Murmurs		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:25741868|PMID:28492532
8773079	Ush2a	usherin	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:26629787|PMID:26872967|PMID:26969326|PMID:27344577|PMID:27460420|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28761320|PMID:28838317|PMID:29151245|PMID:29847639|PMID:29953849|PMID:30337596|PMID:30718709|PMID:30755392|PMID:31231422|PMID:31266775|PMID:31429209|PMID:31589614|PMID:31816670|PMID:31827275|PMID:31836858|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32176120|PMID:32531858|PMID:32581362|PMID:32664777|PMID:32853555|PMID:33089500|PMID:33302505|PMID:33411470|PMID:33576794|PMID:33749171|PMID:34148116|PMID:34426522|PMID:34758253|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35345973|PMID:35456422|PMID:35836572|PMID:36011334|PMID:36460718|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:9003507	Premature Birth		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22009552|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:26629787|PMID:26872967|PMID:26969326|PMID:27344577|PMID:27460420|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28761320|PMID:28838317|PMID:28944237|PMID:29151245|PMID:29490346|PMID:29847639|PMID:29953849|PMID:30337596|PMID:30718709|PMID:30755392|PMID:31231422|PMID:31266775|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31816670|PMID:31827275|PMID:31836858|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32176120|PMID:32326409|PMID:32531858|PMID:32581362|PMID:32664777|PMID:32853555|PMID:33089500|PMID:33302505|PMID:33411470|PMID:33576794|PMID:33749171|PMID:34148116|PMID:34426522|PMID:34758253|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35345973|PMID:35456422|PMID:35836572|PMID:36011334|PMID:36460718|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:38219857|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:9003566	Mesothelioma		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8773079	Ush2a	usherin	gene	DOID:9003760	Myalgia		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:20507924|PMID:22009552|PMID:23924366|PMID:25404053|PMID:25558175|PMID:25741868|PMID:26629787|PMID:27460420|PMID:28492532|PMID:28944237|PMID:29490346|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31980526|PMID:32037395|PMID:32326409|PMID:32531858|PMID:32581362|PMID:33576794|PMID:34148116|PMID:34758253|PMID:34781295|PMID:34948090|PMID:35266249|PMID:36460718|PMID:36785559|PMID:36819107|PMID:38219857
8773079	Ush2a	usherin	gene	DOID:9003816	Macrocephaly		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:10729113|PMID:10909849|PMID:20507924|PMID:25649381|PMID:25741868|PMID:28492532
8773079	Ush2a	usherin	gene	DOID:9004538	Hearing Loss		ISO	RGD:736503	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:10729113|PMID:10909849|PMID:14970843|PMID:15015129|PMID:15241801|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18463160|PMID:18641288|PMID:19683999|PMID:19881469|PMID:20507924|PMID:21569298|PMID:22004887|PMID:22135276|PMID:24033266|PMID:24944099|PMID:25262649|PMID:25333064|PMID:25342620|PMID:25366773|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25999674|PMID:26467025|PMID:26927203|PMID:27460420|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28559085|PMID:28944237|PMID:29151245|PMID:29293505|PMID:30192042|PMID:30245029|PMID:30311386|PMID:30718709|PMID:30872814|PMID:31054281|PMID:32037395|PMID:32531858|PMID:33089500
8773079	Ush2a	usherin	gene	DOID:9004538	Hearing Loss		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: hearing impairment	PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:16963483|PMID:17405132|PMID:18641288|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22009552|PMID:22135276|PMID:22581970|PMID:23804846|PMID:23924366|PMID:24033266|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:26629787|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27344577|PMID:27460420|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28761320|PMID:28838317|PMID:28944237|PMID:29151245|PMID:29490346|PMID:29847639|PMID:29953849|PMID:30311386|PMID:30337596|PMID:30718709|PMID:30755392|PMID:31231422|PMID:31266775|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31816670|PMID:31827275|PMID:31836858|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32176120|PMID:32326409|PMID:32531858|PMID:32581362|PMID:32664777|PMID:32675063|PMID:32853555|PMID:33089500|PMID:33302505|PMID:33411470|PMID:33576794|PMID:33749171|PMID:34148116|PMID:34426522|PMID:34758253|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35345973|PMID:35456422|PMID:35836572|PMID:36011334|PMID:36460718|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:38219857|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736503	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:10729113|PMID:10909849|PMID:17085681|PMID:17405132|PMID:18273898|PMID:19881469|PMID:20145675|PMID:20507924|PMID:22025579|PMID:24033266|PMID:25097241|PMID:25472526|PMID:25649381|PMID:25741868|PMID:26969326|PMID:28492532|PMID:28944237
8773079	Ush2a	usherin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:10729113|PMID:10909849|PMID:20507924|PMID:25649381|PMID:25741868|PMID:28492532
8773079	Ush2a	usherin	gene	DOID:9005976	Pulmonary Surfactant Metabolism Dysfunction 2		ISO	RGD:736503	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 2	PMID:10729113|PMID:10909849|PMID:19881469|PMID:20507924|PMID:24033266|PMID:25649381|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28559085
8773079	Ush2a	usherin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8773079	Ush2a	usherin	gene	DOID:9007661	Dwarfism		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:26629787|PMID:26872967|PMID:26969326|PMID:27344577|PMID:27460420|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28761320|PMID:28838317|PMID:29151245|PMID:29847639|PMID:29953849|PMID:30337596|PMID:30718709|PMID:30755392|PMID:31231422|PMID:31266775|PMID:31429209|PMID:31589614|PMID:31816670|PMID:31827275|PMID:31836858|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32176120|PMID:32531858|PMID:32581362|PMID:32664777|PMID:32853555|PMID:33089500|PMID:33302505|PMID:33411470|PMID:33576794|PMID:33749171|PMID:34148116|PMID:34426522|PMID:34758253|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35345973|PMID:35456422|PMID:35836572|PMID:36011334|PMID:36460718|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:9007956	Febrile Seizures		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complex febrile seizure	PMID:10729113|PMID:10909849|PMID:20507924|PMID:24944099|PMID:25649381|PMID:25741868|PMID:28492532
8773079	Ush2a	usherin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10729113|PMID:10909849|PMID:20507924|PMID:24033266|PMID:24944099|PMID:25649381|PMID:25741868|PMID:27460420|PMID:28492532|PMID:30311386
8773079	Ush2a	usherin	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868|PMID:28157192|PMID:28492532|PMID:32188678|PMID:32675063
8773079	Ush2a	usherin	gene	DOID:9008520	Chronic Pain		ISO	RGD:736503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic pain	PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:26629787|PMID:26872967|PMID:26969326|PMID:27344577|PMID:27460420|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28761320|PMID:28838317|PMID:29151245|PMID:29847639|PMID:29953849|PMID:30337596|PMID:30718709|PMID:30755392|PMID:31231422|PMID:31266775|PMID:31429209|PMID:31589614|PMID:31816670|PMID:31827275|PMID:31836858|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32176120|PMID:32531858|PMID:32581362|PMID:32664777|PMID:32853555|PMID:33089500|PMID:33302505|PMID:33411470|PMID:33576794|PMID:33749171|PMID:34148116|PMID:34426522|PMID:34758253|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35345973|PMID:35456422|PMID:35836572|PMID:36011334|PMID:36460718|PMID:36672815|PMID:36785559|PMID:36819107|PMID:36909829|PMID:9624053
8773079	Ush2a	usherin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:24033266|PMID:25741868|PMID:28492532
8773079	Ush2a	usherin	gene	DOID:9009021	Plagiocephaly		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:10729113|PMID:10909849|PMID:20507924|PMID:24944099|PMID:25649381|PMID:25741868|PMID:28492532
8773079	Ush2a	usherin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8773177	Klc1	kinesin light chain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8773177	Klc1	kinesin light chain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8773177	Klc1	kinesin light chain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8773177	Klc1	kinesin light chain 1	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:1352040	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:56836G>C (human)	PMID:15364413|REF_RGD_ID:5684007
8773177	Klc1	kinesin light chain 1	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:1352040	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs8007903, rs3212079 (human)	PMID:19911314|REF_RGD_ID:5683908
8773177	Klc1	kinesin light chain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8773177	Klc1	kinesin light chain 1	gene	DOID:1909	melanoma		ISO	RGD:1352040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8773177	Klc1	kinesin light chain 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8773177	Klc1	kinesin light chain 1	gene	DOID:2378	relapsing-remitting multiple sclerosis	susceptibility	ISO	RGD:1352040	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:56836G>C (rs8702) (human)	PMID:17999208|REF_RGD_ID:5684008
8773177	Klc1	kinesin light chain 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8773177	Klc1	kinesin light chain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352040	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8773177	Klc1	kinesin light chain 1	gene	DOID:9001620	Leukoaraiosis		ISO	RGD:1352040	D	RGD:9068941	20200609	RGD		associated with hypertension;DNA:polymorphism:intron:5836G>C(human)	PMID:17917076|REF_RGD_ID:5683912
8773177	Klc1	kinesin light chain 1	gene	DOID:9001620	Leukoaraiosis		ISO	RGD:1352040	D	RGD:9068941	20200609	RGD		associated with hypertension;DNA:polymorphisms:5'utr:185A>C,406C>T (human)	PMID:17977659|REF_RGD_ID:5683914
8773177	Klc1	kinesin light chain 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1352040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8773177	Klc1	kinesin light chain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8773177	Klc1	kinesin light chain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8773177	Klc1	kinesin light chain 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:0080690	RASopathy		ISO	RGD:731669	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: rasopathies	PMID:24033266|PMID:25741868|PMID:27681385|PMID:28492532|PMID:30236064|PMID:33333793
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:0080691	Noonan syndrome-like disorder with loose anagen hair		ISO	RGD:731669	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair	PMID:25741868|PMID:27681385|PMID:28492532|PMID:30236064|PMID:33333793
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2		ISO	RGD:731669	D	RGD:7240710	20190315	OMIM			
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2		ISO	RGD:731669	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 | ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 | ClinVar Annotator: match by term: PPP1CB-related condition	PMID:24033266|PMID:25741868|PMID:27681385|PMID:28492532|PMID:30236064|PMID:30348783|PMID:33333793
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:1059	intellectual disability		ISO	RGD:731669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:1115	sarcoma		ISO	RGD:731669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:11383	cryptorchidism		ISO	RGD:731669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:1588	thrombocytopenia		ISO	RGD:731669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:1909	melanoma		ISO	RGD:731669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:3081	cystic lymphangioma		ISO	RGD:731669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cystic hygroma	PMID:25741868
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:3490	Noonan syndrome		ISO	RGD:731669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Noonan syndrome	PMID:25741868|PMID:28492532
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:630	genetic disease		ISO	RGD:731669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:731669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:8927	learning disability		ISO	RGD:731669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731669	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:27681385|PMID:28492532|PMID:30236064|PMID:33333793
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:9007366	Pulmonary Artery Stenosis		ISO	RGD:731669	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonary artery stenosis	PMID:25741868|PMID:27681385|PMID:28492532|PMID:30236064|PMID:33333793
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731669	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27681385|PMID:28492532|PMID:30236064|PMID:33333793
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:9008305	Talipes Cavus		ISO	RGD:731669	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:27681385|PMID:28492532|PMID:30236064|PMID:33333793
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8773230	Ppp1cb	protein phosphatase 1 catalytic subunit beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8773245	Pon1	paraoxonase 1	gene	DOID:0014667	disease of metabolism		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28396702
8773245	Pon1	paraoxonase 1	gene	DOID:0050731	vitamin B12 deficiency		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:decreased activity:serum (human)	PMID:22568797|REF_RGD_ID:11553830
8773245	Pon1	paraoxonase 1	gene	DOID:0060058	lymphoma		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22800774
8773245	Pon1	paraoxonase 1	gene	DOID:0060060	non-Hodgkin lymphoma	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.Q192R (human)	PMID:12139735|REF_RGD_ID:11553822
8773245	Pon1	paraoxonase 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17204329
8773245	Pon1	paraoxonase 1	gene	DOID:0060669	cerebral cavernous malformation	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.L55M, p.Q192R (human)	PMID:26122242|REF_RGD_ID:11552573
8773245	Pon1	paraoxonase 1	gene	DOID:0080001	bone disease		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		associated with Multiple Myeloma;protein:increased expression:serum (human)	PMID:25322877|REF_RGD_ID:11552587
8773245	Pon1	paraoxonase 1	gene	DOID:0080016	spina bifida		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21031563
8773245	Pon1	paraoxonase 1	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:decreased activity:plasma (human)	PMID:17617032|REF_RGD_ID:11553831
8773245	Pon1	paraoxonase 1	gene	DOID:10126	keratoconus		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:decreased activity:plasma (human)	PMID:23441349|REF_RGD_ID:8547774
8773245	Pon1	paraoxonase 1	gene	DOID:10126	keratoconus	severity	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:decreased activity:serum (human)	PMID:24148525|REF_RGD_ID:8547559
8773245	Pon1	paraoxonase 1	gene	DOID:10283	prostate cancer		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:increased activity:serum (human)	PMID:23768700|REF_RGD_ID:8547662
8773245	Pon1	paraoxonase 1	gene	DOID:1040	chronic lymphocytic leukemia	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.L55M, p.Q192R (human)	PMID:26254371|REF_RGD_ID:11073982
8773245	Pon1	paraoxonase 1	gene	DOID:10603	glucose intolerance		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:amino acid L55M, LL genotype	PMID:11889198|REF_RGD_ID:1642628
8773245	Pon1	paraoxonase 1	gene	DOID:10608	celiac disease		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:duodenum	PMID:17664137|REF_RGD_ID:5509924
8773245	Pon1	paraoxonase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:multiple SNPs	PMID:16319130|REF_RGD_ID:5509926
8773245	Pon1	paraoxonase 1	gene	DOID:1067	open-angle glaucoma		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.L55M, p.Q192R (human)	PMID:16411107|REF_RGD_ID:8547552
8773245	Pon1	paraoxonase 1	gene	DOID:1070	primary open angle glaucoma	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.Q192R (rs662) (human)	PMID:22553514|REF_RGD_ID:8547563
8773245	Pon1	paraoxonase 1	gene	DOID:10763	hypertension		ISO	RGD:1349272	D	RGD:9068941	20230923	RGD		DNA:SNP: :rs705379 (human)	PMID:32034489|REF_RGD_ID:401827127
8773245	Pon1	paraoxonase 1	gene	DOID:10873	Kuhnt-Junius degeneration		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:decreased activity:serum (human)	PMID:19155603|REF_RGD_ID:8547556
8773245	Pon1	paraoxonase 1	gene	DOID:10873	Kuhnt-Junius degeneration	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.L55M, p.Q192R (human)	PMID:20042177|REF_RGD_ID:8547668
8773245	Pon1	paraoxonase 1	gene	DOID:10923	sickle cell anemia		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:decreased activity: serum (human)	PMID:24508012|REF_RGD_ID:11553835
8773245	Pon1	paraoxonase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349272	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35764155
8773245	Pon1	paraoxonase 1	gene	DOID:11123	IgA vasculitis	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.L55M, p.Q192R (human)	PMID:19967651|REF_RGD_ID:11552576
8773245	Pon1	paraoxonase 1	gene	DOID:114	heart disease		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28396702
8773245	Pon1	paraoxonase 1	gene	DOID:11713	diabetic angiopathy		ISO	RGD:1349272	D	RGD:9068941	20251016	RGD		associated with Diabetes Mellitus;DNA:polymorphisms: p.L55M, p.Q192R (human)	PMID:17949258|REF_RGD_ID:2313270
8773245	Pon1	paraoxonase 1	gene	DOID:11713	diabetic angiopathy		ISO	RGD:8563861	D	RGD:9068941	20251016	ClinVar		ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 5	PMID:11335891|PMID:11788650|PMID:11889198|PMID:11918623|PMID:9011577|PMID:9661650
8773245	Pon1	paraoxonase 1	gene	DOID:11758	iron deficiency anemia		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:decreased activity:serum (human)	PMID:16684543|REF_RGD_ID:11552586
8773245	Pon1	paraoxonase 1	gene	DOID:11758	iron deficiency anemia	treatment	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD			PMID:26926576|REF_RGD_ID:11553834
8773245	Pon1	paraoxonase 1	gene	DOID:11840	coronary artery vasospasm		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11810302
8773245	Pon1	paraoxonase 1	gene	DOID:12241	beta thalassemia		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:decreased activity:serum (human)	PMID:26608512|REF_RGD_ID:11552583
8773245	Pon1	paraoxonase 1	gene	DOID:12336	male infertility		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21561808|PMID:22206979
8773245	Pon1	paraoxonase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16027737|PMID:16297937|PMID:22490277
8773245	Pon1	paraoxonase 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15169886|PMID:19152805
8773245	Pon1	paraoxonase 1	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:decreased activity:serum (human)	PMID:20497955|REF_RGD_ID:8547550
8773245	Pon1	paraoxonase 1	gene	DOID:1307	dementia	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:snp, missense mutation, haplotype:promoter, cds:g.-107T>C, p.Q129R (human)	PMID:15016430|REF_RGD_ID:1358562
8773245	Pon1	paraoxonase 1	gene	DOID:1324	lung cancer		ISO	RGD:1349272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8773245	Pon1	paraoxonase 1	gene	DOID:13241	Behcet's disease		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:decreased activity:serum (human)	PMID:15377545|REF_RGD_ID:8547573
8773245	Pon1	paraoxonase 1	gene	DOID:13548	secondary Parkinson disease		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26457621
8773245	Pon1	paraoxonase 1	gene	DOID:13580	cholestasis		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
8773245	Pon1	paraoxonase 1	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum (human)	PMID:19628957|REF_RGD_ID:8547685
8773245	Pon1	paraoxonase 1	gene	DOID:14400	capillary leak syndrome	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:snp:intron:c.75-1136G>A (rs3917490) (human)	PMID:24808988|REF_RGD_ID:11553829
8773245	Pon1	paraoxonase 1	gene	DOID:1596	depressive disorder		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19272368
8773245	Pon1	paraoxonase 1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.Q192R (human)	PMID:17428620|REF_RGD_ID:8661246
8773245	Pon1	paraoxonase 1	gene	DOID:1727	retinal vein occlusion		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:decreased activity:serum (human)	PMID:18084236|REF_RGD_ID:8547555
8773245	Pon1	paraoxonase 1	gene	DOID:1727	retinal vein occlusion	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.L55M (human)	PMID:23441121|REF_RGD_ID:8547547
8773245	Pon1	paraoxonase 1	gene	DOID:1936	atherosclerosis		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:16216721|PMID:16229851|PMID:16331452|PMID:19371607|PMID:21629682|PMID:26241956
8773245	Pon1	paraoxonase 1	gene	DOID:1936	atherosclerosis		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		mRNA:altered expression::human transgene expression in ApoE-KO mice was protective	PMID:20182519|REF_RGD_ID:5509927
8773245	Pon1	paraoxonase 1	gene	DOID:1936	atherosclerosis	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		associated with Beta-Thalassemia;protein:decreased activity:serum (human)	PMID:21427447|REF_RGD_ID:11552582
8773245	Pon1	paraoxonase 1	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:733240	D	RGD:9068941	20200609	RGD			PMID:16043712|PMID:20660283|REF_RGD_ID:8547562|REF_RGD_ID:8547574
8773245	Pon1	paraoxonase 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		associated with Metabolic Syndrome X	PMID:16627808|REF_RGD_ID:2313273
8773245	Pon1	paraoxonase 1	gene	DOID:2355	anemia	severity	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		associated with Gastrointestinal Neoplasms;protein:decreased activity:serum (human)	PMID:18423402|REF_RGD_ID:11552571
8773245	Pon1	paraoxonase 1	gene	DOID:2355	anemia	treatment	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		associated with Renal Insufficiency, Chronic	PMID:17324148|REF_RGD_ID:11552579
8773245	Pon1	paraoxonase 1	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16175651
8773245	Pon1	paraoxonase 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:decreased activity:serum (human)	PMID:16380766|REF_RGD_ID:8547571
8773245	Pon1	paraoxonase 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1349272	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868
8773245	Pon1	paraoxonase 1	gene	DOID:3388	periodontal disease		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19003935
8773245	Pon1	paraoxonase 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1349272	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:21629682|PMID:8675673|PMID:9215303
8773245	Pon1	paraoxonase 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1349272	D	RGD:9068941	20250710	RGD			PMID:11917194|REF_RGD_ID:1580203
8773245	Pon1	paraoxonase 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1349272	D	RGD:9068941	20250710	RGD		protein:increased activity:serum (human)	PMID:15785307|REF_RGD_ID:8547681
8773245	Pon1	paraoxonase 1	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.Q192R (human)	PMID:10729395|REF_RGD_ID:1580196
8773245	Pon1	paraoxonase 1	gene	DOID:3526	cerebral infarction	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.Q192R (human)	PMID:10729395|REF_RGD_ID:1580196
8773245	Pon1	paraoxonase 1	gene	DOID:3602	toxic encephalopathy		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21329748
8773245	Pon1	paraoxonase 1	gene	DOID:4195	hyperglycemia	treatment	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:23267397|REF_RGD_ID:8547670
8773245	Pon1	paraoxonase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8773245	Pon1	paraoxonase 1	gene	DOID:4448	macular degeneration		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:decreased activity:serum (human)	PMID:23432778|REF_RGD_ID:8547561
8773245	Pon1	paraoxonase 1	gene	DOID:4448	macular degeneration	no_association	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.L55M, p.Q192R (human)	PMID:15488805|REF_RGD_ID:8547582
8773245	Pon1	paraoxonase 1	gene	DOID:4448	macular degeneration	no_association	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.L55M, p.Q192R (rs662, rs854560) (human)	PMID:15774926|REF_RGD_ID:8547659
8773245	Pon1	paraoxonase 1	gene	DOID:4448	macular degeneration	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.L55M, p.Q192R (human)	PMID:23538572|REF_RGD_ID:8547549
8773245	Pon1	paraoxonase 1	gene	DOID:4448	macular degeneration	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:snps:promoter, 5' utr:multiple (human)	PMID:22956172|REF_RGD_ID:8547551
8773245	Pon1	paraoxonase 1	gene	DOID:4481	allergic rhinitis	severity	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:decreased activity:plasma (human)	PMID:23406590|REF_RGD_ID:8547583
8773245	Pon1	paraoxonase 1	gene	DOID:4491	persian gulf syndrome		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10373407
8773245	Pon1	paraoxonase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773245	Pon1	paraoxonase 1	gene	DOID:576	proteinuria		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;protein:decreased activity:serum (human)	PMID:9591753|REF_RGD_ID:8547663
8773245	Pon1	paraoxonase 1	gene	DOID:5844	myocardial infarction		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD			PMID:10610741|PMID:10978258|REF_RGD_ID:1580198|REF_RGD_ID:1580202
8773245	Pon1	paraoxonase 1	gene	DOID:6000	congestive heart failure		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26670611
8773245	Pon1	paraoxonase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8773245	Pon1	paraoxonase 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1349272	D	RGD:9068941	20220901	RGD		mRNA:decreased expression:liver (human)	PMID:35693827|REF_RGD_ID:153344586
8773245	Pon1	paraoxonase 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16055108
8773245	Pon1	paraoxonase 1	gene	DOID:7693	abdominal aortic aneurysm	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20230831	RGD		DNA:SNPs, haplotypes:exon:(rs854660,rs662,rs3917594) (human)	PMID:18635682|REF_RGD_ID:329853746
8773245	Pon1	paraoxonase 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14678291
8773245	Pon1	paraoxonase 1	gene	DOID:83	cataract		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;protein:decreased activity:eye, lens (human)	PMID:19439227|REF_RGD_ID:8547553
8773245	Pon1	paraoxonase 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:colon	PMID:17664137|REF_RGD_ID:5509924
8773245	Pon1	paraoxonase 1	gene	DOID:8778	Crohn's disease		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:terminal ileum	PMID:17664137|REF_RGD_ID:5509924
8773245	Pon1	paraoxonase 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20012460|PMID:9661650
8773245	Pon1	paraoxonase 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1;protein:decreased activity:serum (human)	PMID:20012460|REF_RGD_ID:8547537
8773245	Pon1	paraoxonase 1	gene	DOID:8947	diabetic retinopathy	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:g.-907C>G (human)	PMID:16949520|REF_RGD_ID:2313272
8773245	Pon1	paraoxonase 1	gene	DOID:8947	diabetic retinopathy	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human)	PMID:15270786|REF_RGD_ID:8547548
8773245	Pon1	paraoxonase 1	gene	DOID:8947	diabetic retinopathy	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus;DNA:missense mutation:cds:p.L55M (rs854560) (human)	PMID:24100645|REF_RGD_ID:8547572
8773245	Pon1	paraoxonase 1	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:620062	D	RGD:9068941	20200609	RGD			PMID:12897486|REF_RGD_ID:8547682
8773245	Pon1	paraoxonase 1	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1349272	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35764155
8773245	Pon1	paraoxonase 1	gene	DOID:9000528	Coronary Disease		ISO	RGD:1349272	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: marker/mechanism	PMID:16353344|PMID:16882531
8773245	Pon1	paraoxonase 1	gene	DOID:9000528	Coronary Disease		ISO	RGD:1349272	D	RGD:9068941	20250710	RGD		associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human)	PMID:9215303|REF_RGD_ID:1580201
8773245	Pon1	paraoxonase 1	gene	DOID:9000528	Coronary Disease	no_association	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.Q192R (human)	PMID:15214960|REF_RGD_ID:8547675
8773245	Pon1	paraoxonase 1	gene	DOID:9000528	Coronary Disease	severity	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:19005291|REF_RGD_ID:2313267
8773245	Pon1	paraoxonase 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16229851
8773245	Pon1	paraoxonase 1	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25463530|PMID:28396702
8773245	Pon1	paraoxonase 1	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:decreased activity:serum (human)	PMID:23238704|REF_RGD_ID:8547666
8773245	Pon1	paraoxonase 1	gene	DOID:9001542	Albuminuria		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:promoter, cds (human)	PMID:16949520|REF_RGD_ID:2313272
8773245	Pon1	paraoxonase 1	gene	DOID:9001581	Constipation		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19022366
8773245	Pon1	paraoxonase 1	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26241956
8773245	Pon1	paraoxonase 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26884296
8773245	Pon1	paraoxonase 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:19207863|REF_RGD_ID:2313266
8773245	Pon1	paraoxonase 1	gene	DOID:9002165	Diabetic Nephropathies	no_association	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus;DNA:missense mutations:cds:p.L55M, p.Q192R (rs854560, rs662) (human)	PMID:24100645|REF_RGD_ID:8547572
8773245	Pon1	paraoxonase 1	gene	DOID:9002165	Diabetic Nephropathies	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human)	PMID:15270786|REF_RGD_ID:8547548
8773245	Pon1	paraoxonase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12783936|PMID:15538743|PMID:21716162
8773245	Pon1	paraoxonase 1	gene	DOID:9002564	Arteritis		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19022366
8773245	Pon1	paraoxonase 1	gene	DOID:9002661	Diabetes Complications		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19003935
8773245	Pon1	paraoxonase 1	gene	DOID:9002904	Primitive Neuroectodermal Tumors		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16002382
8773245	Pon1	paraoxonase 1	gene	DOID:9003996	Birth Weight		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17237730
8773245	Pon1	paraoxonase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8773245	Pon1	paraoxonase 1	gene	DOID:9004968	Yin Deficiency		ISO	RGD:620062	D	RGD:9068941	20220908	RGD		protein:decreased expression:serum	PMID:27843478|REF_RGD_ID:153350089
8773245	Pon1	paraoxonase 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16323636
8773245	Pon1	paraoxonase 1	gene	DOID:9005292	Organophosphate Poisoning		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:11022865|PMID:20581384|PMID:20981111|PMID:23123254|PMID:24326413|PMID:26340881|PMID:28070599
8773245	Pon1	paraoxonase 1	gene	DOID:9005463	Occupational Diseases		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22800774
8773245	Pon1	paraoxonase 1	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16030523|PMID:16238680
8773245	Pon1	paraoxonase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD			PMID:18358245|REF_RGD_ID:2313268
8773245	Pon1	paraoxonase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:733240	D	RGD:9068941	20200609	RGD			PMID:18358245|REF_RGD_ID:2313268
8773245	Pon1	paraoxonase 1	gene	DOID:9006532	Hematologic Neoplasms		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22800774
8773245	Pon1	paraoxonase 1	gene	DOID:9006532	Hematologic Neoplasms	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.Q192R (human)	PMID:22800774|REF_RGD_ID:11552572
8773245	Pon1	paraoxonase 1	gene	DOID:9006538	Agricultural Workers' Diseases		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15982977|PMID:18430447
8773245	Pon1	paraoxonase 1	gene	DOID:9006599	Hypertriglyceridemia	treatment	ISO	RGD:620062	D	RGD:9068941	20230831	RGD			PMID:23644946|REF_RGD_ID:401794573
8773245	Pon1	paraoxonase 1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21573798
8773245	Pon1	paraoxonase 1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:decreased activity:serum	PMID:14602783|REF_RGD_ID:1642618
8773245	Pon1	paraoxonase 1	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26839999
8773245	Pon1	paraoxonase 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16099942
8773245	Pon1	paraoxonase 1	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16002382
8773245	Pon1	paraoxonase 1	gene	DOID:9007571	Hyperlipoproteinemias		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15324535
8773245	Pon1	paraoxonase 1	gene	DOID:9007571	Hyperlipoproteinemias		ISO	RGD:620062	D	RGD:9068941	20200609	RGD			PMID:11015468|REF_RGD_ID:731237
8773245	Pon1	paraoxonase 1	gene	DOID:9007571	Hyperlipoproteinemias	treatment	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD			PMID:15324535|REF_RGD_ID:8547684
8773245	Pon1	paraoxonase 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:p.L55M (human), LL genotype (P < 0.001)	PMID:11788650|REF_RGD_ID:1642617
8773245	Pon1	paraoxonase 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1349272	D	RGD:9068941	20201218	CTD		CTD Direct Evidence: marker/mechanism	PMID:31004929
8773245	Pon1	paraoxonase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8773245	Pon1	paraoxonase 1	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17292331|PMID:19028542
8773245	Pon1	paraoxonase 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16229851|PMID:19022366
8773245	Pon1	paraoxonase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.Q192R (human)	PMID:18290860|REF_RGD_ID:2313269
8773245	Pon1	paraoxonase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:17949258|REF_RGD_ID:2313270
8773245	Pon1	paraoxonase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19328014|REF_RGD_ID:2307252
8773245	Pon1	paraoxonase 1	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.L55M, p.Q192R (human)	PMID:9591753|REF_RGD_ID:8547663
8773245	Pon1	paraoxonase 1	gene	DOID:9352	type 2 diabetes mellitus	severity	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		associated with Diabetic Retinopathy;DNA:missense mutations:cds:p.L55M, p.Q192R (human)	PMID:10677395|REF_RGD_ID:8547560
8773245	Pon1	paraoxonase 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26945512
8773245	Pon1	paraoxonase 1	gene	DOID:9538	multiple myeloma	severity	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:decreased activity:serum (human)	PMID:25520116|REF_RGD_ID:11552578
8773245	Pon1	paraoxonase 1	gene	DOID:9538	multiple myeloma	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.Q192R (human)	PMID:15136237|REF_RGD_ID:10450846
8773245	Pon1	paraoxonase 1	gene	DOID:9538	multiple myeloma	treatment	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD			PMID:22348216|REF_RGD_ID:11040544
8773245	Pon1	paraoxonase 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:17949258|REF_RGD_ID:2313270
8773245	Pon1	paraoxonase 1	gene	DOID:9746	hemorrhoid		ISO	RGD:1349272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19022366
8773245	Pon1	paraoxonase 1	gene	DOID:9952	acute lymphoblastic leukemia	susceptibility	ISO	RGD:1349272	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.L55M (rs854560), p.Q192R (rs662) (human)	PMID:22976839|REF_RGD_ID:11552580
8773270	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1343626	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:multiple (human)	PMID:23280334|REF_RGD_ID:11039052
8773270	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1553658	D	RGD:9068941	20220825	MouseDO		OMIM:614286	
8773270	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1343626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8773270	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:305	carcinoma		ISO	RGD:1343626	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8773270	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343626	D	RGD:9068941	20210917	RGD		protein:increased expression:lung epithelium,nucleus	PMID:23071587|REF_RGD_ID:150429662
8773270	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1343626	D	RGD:9068941	20210917	RGD		protein:increased expression:lung epithelium,nucleus	PMID:23071587|REF_RGD_ID:150429662
8773270	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1343626	D	RGD:9068941	20210917	RGD			PMID:23071587|REF_RGD_ID:150429662
8773270	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343626	D	RGD:9068941	20200609	RGD		mRNA:altered expression:kidney (human)	PMID:21082031|REF_RGD_ID:11039407
8773270	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:5410	pulmonary neuroendocrine tumor		ISO	RGD:1343626	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung (human)	PMID:23518498|REF_RGD_ID:11039050
8773270	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:6000	congestive heart failure	disease_progression	ISO	RGD:1343626	D	RGD:9068941	20221027	RGD		DNA:mutations: :	PMID:33779075|REF_RGD_ID:155630627
8773270	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:678	progressive supranuclear palsy		ISO	RGD:1343626	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25402454
8773270	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1553658	D	RGD:9068941	20210917	RGD			PMID:32372053|REF_RGD_ID:150429663
8773270	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1343626	D	RGD:9068941	20210917	RGD			PMID:29278882|REF_RGD_ID:150429692
8773270	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1343626	D	RGD:9068941	20210917	RGD			PMID:28082404|REF_RGD_ID:150429666
8773270	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1343626	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8773270	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:9000965	Neoplasm Metastasis	severity	ISO	RGD:1343626	D	RGD:9068941	20210917	RGD		associated with hepatocellular carcinoma	PMID:29278882|REF_RGD_ID:150429692
8773270	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1343626	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8773270	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:9006169	Head and Neck Neoplasms		ISO	RGD:1343626	D	RGD:9068941	20200609	RGD		mRNA:increased expression:head and neck (human)	PMID:21764905|REF_RGD_ID:11039047
8773270	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:9119	acute myeloid leukemia	severity	ISO	RGD:1343626	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:22431577|REF_RGD_ID:11039017
8773277	Dmap1	DNA methyltransferase 1 associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8773277	Dmap1	DNA methyltransferase 1 associated protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8773277	Dmap1	DNA methyltransferase 1 associated protein 1	gene	DOID:10907	microcephaly		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8773277	Dmap1	DNA methyltransferase 1 associated protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1322676	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8773277	Dmap1	DNA methyltransferase 1 associated protein 1	gene	DOID:1909	melanoma		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8773277	Dmap1	DNA methyltransferase 1 associated protein 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8773277	Dmap1	DNA methyltransferase 1 associated protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8773277	Dmap1	DNA methyltransferase 1 associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773277	Dmap1	DNA methyltransferase 1 associated protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8773277	Dmap1	DNA methyltransferase 1 associated protein 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
8773277	Dmap1	DNA methyltransferase 1 associated protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322676	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
8773277	Dmap1	DNA methyltransferase 1 associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8773277	Dmap1	DNA methyltransferase 1 associated protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8773277	Dmap1	DNA methyltransferase 1 associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8773316	Wdcp	WD repeat and coiled coil containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8773330	Scube2	signal peptide, CUB domain and EGF like domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1352842	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8773382	Gabra6	gamma-aminobutyric acid type A receptor subunit alpha6	gene	DOID:11830	myopia		ISO	RGD:732651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
8773382	Gabra6	gamma-aminobutyric acid type A receptor subunit alpha6	gene	DOID:1596	depressive disorder		ISO	RGD:732651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
8773382	Gabra6	gamma-aminobutyric acid type A receptor subunit alpha6	gene	DOID:1825	childhood absence epilepsy		ISO	RGD:732651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Childhood absence epilepsy	PMID:28492532
8773382	Gabra6	gamma-aminobutyric acid type A receptor subunit alpha6	gene	DOID:2030	anxiety disorder		ISO	RGD:732651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
8773382	Gabra6	gamma-aminobutyric acid type A receptor subunit alpha6	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:732651	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25257527
8773382	Gabra6	gamma-aminobutyric acid type A receptor subunit alpha6	gene	DOID:480	movement disease		ISO	RGD:732651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
8773382	Gabra6	gamma-aminobutyric acid type A receptor subunit alpha6	gene	DOID:5419	schizophrenia		ISO	RGD:732651	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18923069
8773382	Gabra6	gamma-aminobutyric acid type A receptor subunit alpha6	gene	DOID:9001733	Tinnitus		ISO	RGD:732651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	
8773382	Gabra6	gamma-aminobutyric acid type A receptor subunit alpha6	gene	DOID:9004538	Hearing Loss		ISO	RGD:732651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
8773382	Gabra6	gamma-aminobutyric acid type A receptor subunit alpha6	gene	DOID:9005158	Cushing Syndrome		ISO	RGD:61861	D	RGD:9068941	20200609	RGD		DNA:polymorphism:3' utr:1519T>C, abdominal obesity and hypercortisolism	PMID:12080446|REF_RGD_ID:1626491
8773382	Gabra6	gamma-aminobutyric acid type A receptor subunit alpha6	gene	DOID:9006302	Binge Drinking		ISO	RGD:61861	D	RGD:9068941	20240328	RGD		mRNA:altered exxpression:spleen (rat)	PMID:23413777|REF_RGD_ID:405100715
8773382	Gabra6	gamma-aminobutyric acid type A receptor subunit alpha6	gene	DOID:9970	obesity		ISO	RGD:61861	D	RGD:9068941	20200609	RGD		DNA:polymorphism:3' utr:1519T>C, abdominal obesity and hypercortisolism	PMID:12080446|REF_RGD_ID:1626491
8773399	Lsp1	lymphocyte specific protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8773399	Lsp1	lymphocyte specific protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8773399	Lsp1	lymphocyte specific protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1314573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8773399	Lsp1	lymphocyte specific protein 1	gene	DOID:1612	breast cancer		ISO	RGD:1314573	D	RGD:9068941	20241003	RGD		DNA:SNPs: :rs569550,rs592373(human)	PMID:26191300|REF_RGD_ID:11063875
8773399	Lsp1	lymphocyte specific protein 1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1314573	D	RGD:9068941	20241003	RGD		DNA:SNP:intron:rs3817198T>C(human)	PMID:21127985|REF_RGD_ID:407571686
8773399	Lsp1	lymphocyte specific protein 1	gene	DOID:182	calcinosis		ISO	RGD:1314573	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
8773399	Lsp1	lymphocyte specific protein 1	gene	DOID:3275	thymoma		ISO	RGD:1314573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8773399	Lsp1	lymphocyte specific protein 1	gene	DOID:4079	heart valve disease		ISO	RGD:1314573	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
8773399	Lsp1	lymphocyte specific protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8773399	Lsp1	lymphocyte specific protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773399	Lsp1	lymphocyte specific protein 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:1314573	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21297633
8773399	Lsp1	lymphocyte specific protein 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8773399	Lsp1	lymphocyte specific protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8773399	Lsp1	lymphocyte specific protein 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1314573	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17529967|PMID:20453838
8773399	Lsp1	lymphocyte specific protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8773399	Lsp1	lymphocyte specific protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:736042	D	RGD:9068941	20200609	RGD			PMID:15844718|REF_RGD_ID:1626117
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:0050784	primary progressive multiple sclerosis	disease_progression	ISO	RGD:736042	D	RGD:9068941	20200609	RGD			PMID:15732261|REF_RGD_ID:1626118
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:0080552	congenital disorder of glycosylation Ia		ISO	RGD:736042	D	RGD:9068941	20200609	RGD			PMID:19207313|REF_RGD_ID:12910858
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:0080600	COVID-19		ISO	RGD:736042	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:10283	prostate cancer		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:rs2854744, homozygous C allele associated with 2x increased risk	PMID:17724372|REF_RGD_ID:2290008
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:10283	prostate cancer	no_association	ISO	RGD:736042	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:no association with rs2854744, 440 cases and 480 related controls from Cleveland, OH and Detroit, MI	PMID:15006930|REF_RGD_ID:2290012
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:10283	prostate cancer	severity	ISO	RGD:736042	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:rs2854744 C allele associated with low grade tumors only, odds ratio=4.1 for low grade vs 1.0 for high grade	PMID:17668637|REF_RGD_ID:2290015
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:10456	tonsillitis	treatment	ISO	RGD:736042	D	RGD:9068941	20200609	RGD			PMID:27738609|REF_RGD_ID:12743605
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:736042	D	RGD:9068941	20220901	RGD		human cells in mouse model	PMID:16052530|REF_RGD_ID:153344579
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10774	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hippocampus	PMID:24964199|REF_RGD_ID:10402572
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:23473966|REF_RGD_ID:10402570
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:736042	D	RGD:9068941	20200609	RGD			PMID:10399774|REF_RGD_ID:10402576
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736042	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21347663
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma:level significantly lower in cases than controls (p<0.01), highest quartile levels associated with reduced risk (OR=0.38)	PMID:12544349|REF_RGD_ID:2290028
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:11476	osteoporosis		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:9284698|REF_RGD_ID:10402579
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:12241	beta thalassemia		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:9666877|REF_RGD_ID:12743604
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:12689	acoustic neuroma	susceptibility	ISO	RGD:736042	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:21788435|REF_RGD_ID:8548833
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:12849	autistic disorder		ISO	RGD:736042	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17547689
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		associated with Obstetric Labor, Premature; protein:decreased expression:plasma:	PMID:23202391|REF_RGD_ID:12743584
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:14250	Down syndrome		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		protein:increased expression:blood:	PMID:9469274|REF_RGD_ID:12743600
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:1485	cystic fibrosis		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:15310308|REF_RGD_ID:12743589
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:1612	breast cancer		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter,CDS:variant allele of multiple SNPs including rs2854744, associated with increased risk singly and in combination, 1,193 patients and 1,310 control Chinese women in Shanghai	PMID:15298948|REF_RGD_ID:2290011
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:1612	breast cancer		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:10069662|PMID:17287408|REF_RGD_ID:2301715|REF_RGD_ID:2301716
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:1612	breast cancer	no_association	ISO	RGD:736042	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:no association with rs2854744, 677 cases and 834 controls from the Nurses' Health Study	PMID:12925957|REF_RGD_ID:2290009
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:1697	ichthyosis		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:18780604|REF_RGD_ID:12743608
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:1858	McCune Albright syndrome	treatment	ISO	RGD:736042	D	RGD:9068941	20200609	RGD			PMID:16720661|REF_RGD_ID:12743609
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:1875	impotence		ISO	RGD:2874	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:penis	PMID:21595839|REF_RGD_ID:10402765
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:1875	impotence	treatment	ISO	RGD:2874	D	RGD:9068941	20200609	RGD			PMID:24576658|REF_RGD_ID:10402763
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:1909	melanoma		ISO	RGD:736042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:2349	arteriosclerosis		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:15625284|REF_RGD_ID:2313768
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:736042	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21347663
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:736042	D	RGD:9068941	20200609	RGD		DNA:hypermethylation	PMID:17541304|REF_RGD_ID:2301466
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:3070	high grade glioma	severity	ISO	RGD:736042	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:21788435|REF_RGD_ID:8548833
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:3491	Turner syndrome		ISO	RGD:736042	D	RGD:9068941	20200609	RGD			PMID:17067837|REF_RGD_ID:12743588
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:3491	Turner syndrome	treatment	ISO	RGD:736042	D	RGD:9068941	20200609	RGD		DNA:SNP: :¿¿¿202 A>C(rs2854744)(human)	PMID:22278433|REF_RGD_ID:12743598
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:736042	D	RGD:9068941	20200609	RGD			PMID:15681824|REF_RGD_ID:1626120
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:2874	D	RGD:9068941	20200609	RGD			PMID:19844724|REF_RGD_ID:10402761
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:418	systemic scleroderma		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:19004037|REF_RGD_ID:12743606
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:736042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:4450	renal cell carcinoma		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:tumor:27/43 (63%) by cDNA microarray, 43/58 (74%) by immunohistochemistry	PMID:18076934|REF_RGD_ID:2290003
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:4959	epidermolysis bullosa dystrophica		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:skin:	PMID:15140235|REF_RGD_ID:12743601
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:736042	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:9851264|REF_RGD_ID:10402573
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736042	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17379860
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:8398	osteoarthritis		ISO	RGD:736042	D	RGD:9068941	20200609	RGD			PMID:18775662|REF_RGD_ID:10402575
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:8692	myeloid leukemia		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood:	PMID:23716272|REF_RGD_ID:12743616
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03)	PMID:17709267|REF_RGD_ID:2290004
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01)	PMID:14675666|REF_RGD_ID:2290021
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9000121	Malocclusion		ISO	RGD:2874	D	RGD:9068941	20200609	RGD			PMID:22758598|REF_RGD_ID:10045831
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:736042	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9000528	Coronary Disease		ISO	RGD:736042	D	RGD:9068941	20200609	RGD			PMID:15521962|REF_RGD_ID:1626121
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736042	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:2874	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:16923367|REF_RGD_ID:10402581
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter:	PMID:21924014|REF_RGD_ID:12743583
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		mRNA:increased expression:placenta:	PMID:21823995|REF_RGD_ID:12743585
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:19591553|REF_RGD_ID:12743590
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		protein:increased expression:Amniotic fluid:	PMID:19217707|REF_RGD_ID:12743599
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9002231	Fetal Growth Retardation	treatment	ISO	RGD:2874	D	RGD:9068941	20200609	RGD			PMID:15506645|REF_RGD_ID:1600258
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9002278	Metabolic Bone Diseases	treatment	ISO	RGD:736042	D	RGD:9068941	20200609	RGD			PMID:8619365|REF_RGD_ID:10402812
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736042	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15318950|PMID:16000583|PMID:24586243
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9002407	Spinal Fractures		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		associated with Osteoporosis;protein:decreased expression:serum	PMID:9258758|REF_RGD_ID:10402578
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9002427	Fetal Macrosomia		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:17113804|REF_RGD_ID:12743591
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2874	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney, serum	PMID:14642797|REF_RGD_ID:10402760
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:736042	D	RGD:9068941	20200609	RGD			PMID:17332286|REF_RGD_ID:2301467
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:736042	D	RGD:9068941	20200609	RGD		DNA, protein:hypermethylation, decreased expression:promoter, ovary	PMID:16445635|REF_RGD_ID:2301468
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:736042	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:significantly decreased (p<0.001), levels inversely associated with serum IGF-II levels (p<0.01)	PMID:14675666|REF_RGD_ID:2290021
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:2874	D	RGD:9068941	20200609	RGD			PMID:10709766|REF_RGD_ID:10402756
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9003733	Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21636299|REF_RGD_ID:12910854
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9004265	Endometrioid Carcinomas	disease_progression	ISO	RGD:736042	D	RGD:9068941	20200609	RGD			PMID:17952116|REF_RGD_ID:2301465
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9004713	Acute-Phase Reaction	treatment	ISO	RGD:736042	D	RGD:9068941	20200609	RGD		associated with Burns	PMID:10714634|REF_RGD_ID:10402777
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:10774	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle	PMID:16180585|REF_RGD_ID:2313766
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2874	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:penis	PMID:18068478|REF_RGD_ID:2289159
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2874	D	RGD:9068941	20241123	RGD		mRNA:altered expression:kidney	PMID:7536658|REF_RGD_ID:152176653
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2874	D	RGD:9068941	20200609	RGD			PMID:25582342|REF_RGD_ID:12743617
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9005930	Endotoxemia		ISO	RGD:2874	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver, serum	PMID:18492809|REF_RGD_ID:10402757
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9006008	Closed Head Injuries		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:12002507|REF_RGD_ID:8548865
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:736042	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9007661	Dwarfism		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		associated with Anemia, Sickle Cell;	PMID:17396438|REF_RGD_ID:12743603
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9007692	Insulin Resistance		ISO	RGD:736042	D	RGD:9068941	20200609	RGD			PMID:17237715|REF_RGD_ID:2313762
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma:significantly lower circulating levels in 80 cases vs 80 controls (p<0.001), significantly decreased risk in the highest quartile of expression	PMID:15159305|REF_RGD_ID:2290018
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9007730	Burns		ISO	RGD:2874	D	RGD:9068941	20200609	RGD		mRNA:altered expression:kidney, liver, muscle	PMID:10827012|REF_RGD_ID:12910869
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:736042	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278247
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9206	Barrett's esophagus		ISO	RGD:736042	D	RGD:9068941	20200609	RGD		associated with Aneuploidy; protein:increased expression:serum:	PMID:18006928|REF_RGD_ID:12743582
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9271	ornithine carbamoyltransferase deficiency	treatment	ISO	RGD:736042	D	RGD:9068941	20200609	RGD			PMID:16703326|REF_RGD_ID:12743607
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736042	D	RGD:9068941	20200609	RGD			PMID:16005252|REF_RGD_ID:2313767
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:736042	D	RGD:9068941	20200609	RGD			PMID:15356074|REF_RGD_ID:2313769
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9744	type 1 diabetes mellitus	severity	ISO	RGD:736042	D	RGD:9068941	20200609	RGD			PMID:16887362|REF_RGD_ID:2313765
8773422	Igfbp3	insulin like growth factor binding protein 3	gene	DOID:9970	obesity		ISO	RGD:2874	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:pancreatic fat pad	PMID:22067319|REF_RGD_ID:10402755
8773434	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8773434	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8773434	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:0112312	male infertility due to globozoospermia		ISO	RGD:1321410	D	RGD:9068941	20220825	MouseDO			
8773434	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8773434	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8773434	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8773434	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8773434	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:1909	melanoma		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8773434	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:3275	thymoma		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8773434	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8773434	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1321409	D	RGD:9068941	20220812	RGD		mRNA:increased expression:lung (human)	PMID:23374247|REF_RGD_ID:151708716
8773434	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8773434	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321409	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8773434	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8773434	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773434	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8773434	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1321409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17566973
8773434	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:1310482	D	RGD:9068941	20260117	RGD			PMID:24166465|REF_RGD_ID:630350575
8773434	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:9006945	Diabetic Cardiomyopathies	ameliorates	ISO	RGD:1321410	D	RGD:9068941	20230302	RGD			PMID:36044268|REF_RGD_ID:156430337
8773434	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8773434	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1310482	D	RGD:9068941	20260115	RGD		mRNA,protein:decreased expression:myocardium	PMID:27076094|REF_RGD_ID:630350405
8773434	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8773472	Sit1	signaling threshold regulating transmembrane adaptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1601761	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8773472	Sit1	signaling threshold regulating transmembrane adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773472	Sit1	signaling threshold regulating transmembrane adaptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8773472	Sit1	signaling threshold regulating transmembrane adaptor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8773485	Foxp4	forkhead box P4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8773485	Foxp4	forkhead box P4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8773485	Foxp4	forkhead box P4	gene	DOID:10534	stomach cancer		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8773485	Foxp4	forkhead box P4	gene	DOID:1115	sarcoma		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8773485	Foxp4	forkhead box P4	gene	DOID:1324	lung cancer		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8773485	Foxp4	forkhead box P4	gene	DOID:1657	ventricular septal defect		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
8773485	Foxp4	forkhead box P4	gene	DOID:2394	ovarian cancer		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8773485	Foxp4	forkhead box P4	gene	DOID:3275	thymoma		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8773485	Foxp4	forkhead box P4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8773485	Foxp4	forkhead box P4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1322820	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
8773485	Foxp4	forkhead box P4	gene	DOID:4362	cervical cancer		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8773485	Foxp4	forkhead box P4	gene	DOID:5041	esophageal cancer		ISO	RGD:1322820	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8773485	Foxp4	forkhead box P4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773485	Foxp4	forkhead box P4	gene	DOID:6000	congestive heart failure		ISO	RGD:1322820	D	RGD:9068941	20200609	RGD			PMID:16952980|REF_RGD_ID:1582564
8773485	Foxp4	forkhead box P4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8773485	Foxp4	forkhead box P4	gene	DOID:8488	polyhydramnios		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
8773485	Foxp4	forkhead box P4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1322820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20676098
8773485	Foxp4	forkhead box P4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8773485	Foxp4	forkhead box P4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322820	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:27435318|PMID:33110267
8773485	Foxp4	forkhead box P4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8773485	Foxp4	forkhead box P4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322820	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8773506	Slc41a1	solute carrier family 41 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8773506	Slc41a1	solute carrier family 41 member 1	gene	DOID:1909	melanoma		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8773506	Slc41a1	solute carrier family 41 member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8773506	Slc41a1	solute carrier family 41 member 1	gene	DOID:3275	thymoma		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8773506	Slc41a1	solute carrier family 41 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773506	Slc41a1	solute carrier family 41 member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8773506	Slc41a1	solute carrier family 41 member 1	gene	DOID:9006423	Nephronophthisis-like Nephropathy 2		ISO	RGD:1322838	D	RGD:7240710	20210818	OMIM			
8773506	Slc41a1	solute carrier family 41 member 1	gene	DOID:9006423	Nephronophthisis-like Nephropathy 2		ISO	RGD:1322838	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 2	PMID:25741868
8773506	Slc41a1	solute carrier family 41 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8773506	Slc41a1	solute carrier family 41 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29483653
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:0050589	inflammatory bowel disease	treatment	ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:28891831|REF_RGD_ID:14995457
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:0050697	chorioamnionitis	severity	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:increased expression:amniotic fluid	PMID:19332995|REF_RGD_ID:4145137
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:69095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:0051061	stroke		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12374626
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:69095	D	RGD:9068941	20230330	RGD		associated with heart valve disease;protein:increased expression:right atrial myocardium	PMID:33236535|REF_RGD_ID:242905189
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:0060249	scoliosis		ISO	RGD:69095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:10973241|PMID:12493741|PMID:17206397|PMID:19584867|PMID:23846138|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30721323|PMID:35315241|PMID:35415221
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:0060311	adenoid hypertrophy	treatment	ISO	RGD:69051	D	RGD:9068941	20260409	RGD			PMID:38572767|REF_RGD_ID:645122487
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:0061229	Camurati-Engelmann disease 1		ISO	RGD:69095	D	RGD:7240710	20251001	OMIM			
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:0061229	Camurati-Engelmann disease 1		ISO	RGD:69095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CAMURATI-ENGELMANN DISEASE 1	PMID:15103729|PMID:28492532|PMID:35315241
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	ISO	RGD:69051	D	RGD:9068941	20240801	RGD			PMID:29399060|REF_RGD_ID:407424599
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:0080000	muscular disease		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21152098
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:69095	D	RGD:9068941	20210709	CTD		CTD Direct Evidence: marker/mechanism	PMID:21664615|PMID:32613381
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:0080820	occupational asthma		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25721048
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:0081292	traumatic brain injury	treatment	ISO	RGD:69051	D	RGD:9068941	20200609	RGD			PMID:28433746|REF_RGD_ID:14995478
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:69095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:10973241|PMID:11810278|PMID:15326622|PMID:19654961|PMID:20308061|PMID:23846138|PMID:24154985|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30690794|PMID:32154989|PMID:36339419
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:0111243	acromicric dysplasia		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18677313
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:10140	dry eye syndrome		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22194977
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:10283	prostate cancer		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:1289674|REF_RGD_ID:7394822
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:10322	berylliosis		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15750822|PMID:17785866
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:10322	berylliosis	severity	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :-509C>T (human)	PMID:17785866|REF_RGD_ID:4145294
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:10534	stomach cancer		ISO	RGD:69095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:10763	hypertension		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		protein:increased expression:renal glomerulus	PMID:12771048|REF_RGD_ID:12879474
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:10763	hypertension		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		protein:increased expression:vascular associated smooth muscle cell	PMID:17364610|REF_RGD_ID:1601552
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:10763	hypertension		ISO	RGD:69051	D	RGD:9068941	20200903	RGD		mRNA:increased expression:kidney (SHRSP/A3N rat)	PMID:11682445|PMID:11907153|REF_RGD_ID:28912746|REF_RGD_ID:30296650
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:10763	hypertension		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11682445|PMID:19018797
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:10763	hypertension		ISO	RGD:69095	D	RGD:9068941	20230720	RGD		protein:increased expression:blood serum (human)	PMID:26502942|REF_RGD_ID:329955577
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:10923	sickle cell anemia		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:26928604|REF_RGD_ID:11062147
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1115	sarcoma		ISO	RGD:69095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:11168	anogenital venereal wart		ISO	RGD:69095	D	RGD:9068941	20201105	RGD		mRNA,protein:increased expression:multiple (human)	PMID:23754510|REF_RGD_ID:40400714
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:11204	allergic conjunctivitis	treatment	ISO	RGD:69096	D	RGD:9068941	20200609	RGD			PMID:16914468|REF_RGD_ID:11041889
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:11263	chlamydia	treatment	ISO	RGD:69095	D	RGD:9068941	20200807	RGD			PMID:30832593|REF_RGD_ID:38455984
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:11335	sarcoidosis		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17785866
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:114	heart disease		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		associated with pulmonary hypertension;mRNA:increased expression:lung, arteriole	PMID:15938827|REF_RGD_ID:1601581
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:11476	osteoporosis		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12706579
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:11476	osteoporosis	treatment	ISO	RGD:69051	D	RGD:9068941	20200609	RGD		associated with Uremia;protein:increased expression:osteoblast, osteoclast	PMID:17647196|REF_RGD_ID:10003128
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:11664	nephrosclerosis		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30818366
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney cortex	PMID:19001732|REF_RGD_ID:2306735
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1168	familial hyperlipidemia	treatment	ISO	RGD:69051	D	RGD:9068941	20200609	RGD		associated with Chronic Kidney Failure;mRNA:increased expression:kidney	PMID:16834981|REF_RGD_ID:1601559
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:11720	distal myopathy		ISO	RGD:69095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:10973241|PMID:11810278|PMID:15326622|PMID:19654961|PMID:20308061|PMID:23846138|PMID:24154985|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30690794|PMID:32154989|PMID:36339419
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:11723	Duchenne muscular dystrophy		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21641384
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1184	nephrotic syndrome		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10515446|PMID:1281619|PMID:8023968
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:69096	D	RGD:9068941	20200609	RGD			PMID:22134166|REF_RGD_ID:11073617
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1205	allergic disease		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19138248|PMID:21625544
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:12134	factor VIII deficiency	treatment	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :869T>C(rs1982037)(human)	PMID:25930091|REF_RGD_ID:11055683
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026087
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:12306	vitiligo		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:22342018|REF_RGD_ID:8663475
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:12361	Graves' disease		ISO	RGD:69095	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:33132244
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:12449	aplastic anemia	severity	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:decreased expression: :	PMID:24028718|REF_RGD_ID:11073606
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:12449	aplastic anemia	susceptibility	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :509C>T(human)	PMID:24362456|REF_RGD_ID:11073601
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:12577	urethral obstruction	treatment	ISO	RGD:69051	D	RGD:9068941	20200609	RGD			PMID:24066596|REF_RGD_ID:7394856
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:69096	D	RGD:9068941	20200609	RGD			PMID:9358754|REF_RGD_ID:7394829
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:69096	D	RGD:9068941	20220825	MouseDO		OMIM:270150	
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:12894	Sjogren's syndrome	severity	ISO	RGD:69096	D	RGD:9068941	20200609	RGD			PMID:7554451|REF_RGD_ID:7394845
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:12932	endomyocardial fibrosis		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25450231
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16191423|PMID:18682491|PMID:20493835
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:13141	uveitis	treatment	ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:9008650|REF_RGD_ID:7394815
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:13189	gout		ISO	RGD:69095	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:36850003
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1324	lung cancer		ISO	RGD:69095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:13241	Behcet's disease		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:exon (human)	PMID:21640045|REF_RGD_ID:5147902
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:13250	diarrhea		ISO	RGD:69095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:10973241|PMID:12493741|PMID:17206397|PMID:19584867|PMID:23846138|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30721323|PMID:35315241|PMID:35415221
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:24399159|REF_RGD_ID:11073604
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:13406	pulmonary sarcoidosis	severity	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :-509C>T (human)	PMID:17785866|REF_RGD_ID:4145294
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:13413	hepatic encephalopathy	treatment	ISO	RGD:69096	D	RGD:9068941	20200609	RGD			PMID:30940161|REF_RGD_ID:14995440
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:13608	biliary atresia	treatment	ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:30686515|REF_RGD_ID:14985228
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:69095	D	RGD:9068941	20210910	CTD		CTD Direct Evidence: marker/mechanism	PMID:28789951|PMID:30026087|PMID:31932644
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:13922	eosinophilic esophagitis		ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:24486052|REF_RGD_ID:11073602
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23274713
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:14018	alcoholic liver cirrhosis	treatment	ISO	RGD:69051	D	RGD:9068941	20250417	RGD			PMID:28320086|REF_RGD_ID:598130086
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1485	cystic fibrosis		ISO	RGD:69095	D	RGD:7240710	20180130	OMIM			
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1485	cystic fibrosis		ISO	RGD:69095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis	PMID:25741868|PMID:28492532
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1520	colon carcinoma	disease_progression	ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:11166150|REF_RGD_ID:13432074
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1532	pleural disease		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24142982
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1555	urticaria		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19138248
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:69051	D	RGD:9068941	20250417	RGD			PMID:28320086|REF_RGD_ID:598130086
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:69096	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma:	PMID:22134166|REF_RGD_ID:11073617
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1612	breast cancer		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:7543740|REF_RGD_ID:7394794
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:18075785|REF_RGD_ID:7394832
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1612	breast cancer	no_association	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :29T>C (human)	PMID:20157775|REF_RGD_ID:7394854
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1612	breast cancer	no_association	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.L10P (human)	PMID:17848193|REF_RGD_ID:7394853
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1612	breast cancer	severity	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1982073 (human)	PMID:20640597|REF_RGD_ID:7394846
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-509 C>T (human)	PMID:20232138|REF_RGD_ID:7394850
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1612	breast cancer	treatment	ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:2021547|REF_RGD_ID:7394824
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1724	duodenal ulcer		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12868675
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20852150
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23992306
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:18787407|REF_RGD_ID:2325015
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16933058|REF_RGD_ID:2325018
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:182	calcinosis		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24142982
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1826	epilepsy		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29483653
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1875	impotence		ISO	RGD:69051	D	RGD:9068941	20200609	RGD			PMID:27051243|REF_RGD_ID:14995446
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1875	impotence		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased expression:penis	PMID:18778311|REF_RGD_ID:2306738
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1909	melanoma		ISO	RGD:69095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:1920	hyperuricemia		ISO	RGD:69095	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:36850003
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21227906
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:219	colon cancer	treatment	ISO	RGD:69051	D	RGD:9068941	20210611	RGD			PMID:33360052|REF_RGD_ID:127229954
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2224	essential thrombocythemia		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15682418
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:69095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:10973241|PMID:11810278|PMID:15326622|PMID:19654961|PMID:20308061|PMID:23846138|PMID:24154985|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30690794|PMID:32154989|PMID:36339419
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2256	osteochondrodysplasia	susceptibility	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		Camurati-Engelmann Syndrome, OMIM:131300;DNA:missense mutations: :p.R218H, p.R218C, p.C225R (human)	PMID:10973241|REF_RGD_ID:1601550
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2316	brain ischemia		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:14997937|REF_RGD_ID:2302105
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:234	colon adenocarcinoma	disease_progression	ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:9019169|REF_RGD_ID:13432089
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:increased expression:aorta	PMID:16733295|REF_RGD_ID:1580959
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2355	anemia		ISO	RGD:69095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:10973241|PMID:11810278|PMID:15326622|PMID:19654961|PMID:20308061|PMID:23846138|PMID:24154985|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30690794|PMID:32154989|PMID:36339419
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2615	papilloma		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20172950
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2615	papilloma	disease_progression	ISO	RGD:69096	D	RGD:9068941	20200609	RGD			PMID:7954410|REF_RGD_ID:7394796
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2841	asthma		ISO	RGD:69051	D	RGD:9068941	20200609	RGD			PMID:18366906|REF_RGD_ID:4145280
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2841	asthma		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16365456|PMID:19138248
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2841	asthma		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:915G>C (human)	PMID:19046298|REF_RGD_ID:4145142
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2841	asthma		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter, exon:multiple (human)	PMID:19096005|REF_RGD_ID:4145143
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2841	asthma		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :-509C>T (human)	PMID:18711258|PMID:19222424|REF_RGD_ID:4143443|REF_RGD_ID:4145299
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2841	asthma		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19317336|REF_RGD_ID:4145139
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2841	asthma		ISO	RGD:69096	D	RGD:9068941	20200609	RGD			PMID:19620629|REF_RGD_ID:4145132
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2841	asthma		ISO	RGD:69096	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:20485865|REF_RGD_ID:4145113
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2841	asthma	no_association	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:915G>C (human)	PMID:19533439|REF_RGD_ID:4145297
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2841	asthma	no_association	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :multiple (human)	PMID:19136038|REF_RGD_ID:4145144
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2841	asthma	onset	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:SNP: :-509C>T (human)	PMID:17673695|REF_RGD_ID:4145295
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:69051	D	RGD:9068941	20200702	RGD		protein:increased expression:serum, bronchoalveolar Lavage fluid (rat)	PMID:16409721|REF_RGD_ID:32726073
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:69095	D	RGD:9068941	20200702	RGD		protein:increased expression:serum (human)	PMID:15271897|REF_RGD_ID:32716401
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11728950
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:299	adenocarcinoma		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17418594
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:3021	acute kidney failure		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10469268
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:305	carcinoma		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12417722
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:3082	interstitial lung disease		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		associated with Arthritis, Rheumatoid;protein:increased expression:serum	PMID:18846962|REF_RGD_ID:4145270
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:69051	D	RGD:9068941	20200609	RGD			PMID:18269849|REF_RGD_ID:4145292
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16365456|PMID:31349846
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19186046|REF_RGD_ID:4145140
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:3083	chronic obstructive pulmonary disease	no_association	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :509C>T, 869T>C (human)	PMID:19186046|REF_RGD_ID:4145140
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:869T>C (human)	PMID:20193474|REF_RGD_ID:4145115
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:3227	tracheal stenosis	susceptibility	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		associated with Ventilator-Induced Lung Injury;DNA:polymorphism: :-509C>T (human)	PMID:20172396|REF_RGD_ID:4145116
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:3310	atopic dermatitis		ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:11496247|REF_RGD_ID:7394812
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:3407	carotid artery disease		ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:17119348|REF_RGD_ID:1601556
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:3498	pancreatic ductal adenocarcinoma	ameliorates	ISO	RGD:69095	D	RGD:9068941	20221027	RGD		protein:decreased expression:pancreas (human)	PMID:8253361|REF_RGD_ID:155630628
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:69051	D	RGD:9068941	20200609	RGD			PMID:31409163|REF_RGD_ID:14995477
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:3525	middle cerebral artery infarction	ameliorates	ISO	RGD:69096	D	RGD:9068941	20230330	RGD			PMID:28630232|REF_RGD_ID:242905192
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:3587	pancreatic ductal carcinoma	disease_progression	ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:16101174|REF_RGD_ID:2325019
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		associated with Silicosis	PMID:19439069|REF_RGD_ID:2307220
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:18403781|REF_RGD_ID:4145279
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:69095	D	RGD:9068941	20241205	CTD		CTD Direct Evidence: marker/mechanism	PMID:15286001|PMID:16324872|PMID:16365456|PMID:17266442|PMID:19817698|PMID:24762191|PMID:26817844|PMID:31884830
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:69096	D	RGD:9068941	20200609	RGD		associated with Asthma	PMID:19542246|REF_RGD_ID:4145133
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:69096	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:20833968|REF_RGD_ID:4145112
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:69096	D	RGD:9068941	20200619	RGD		associated with Middle East respiratory syndrome;mRNA:increased expression:lung	PMID:31838832|REF_RGD_ID:30309204
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:69051	D	RGD:9068941	20200609	RGD			PMID:26822530|REF_RGD_ID:14995444
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:3892	insulinoma		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:pancreatic islet	PMID:18058603|REF_RGD_ID:2325017
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:423	myopathy		ISO	RGD:69095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:10973241|PMID:12493741|PMID:17206397|PMID:19584867|PMID:23846138|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30721323|PMID:35315241|PMID:35415221
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:4236	carcinosarcoma		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15132766
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:4362	cervical cancer		ISO	RGD:69095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:26749573|REF_RGD_ID:11560966
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood	PMID:25499257|REF_RGD_ID:13506175
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:26631499|REF_RGD_ID:13506173
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:4481	allergic rhinitis	treatment	ISO	RGD:69051	D	RGD:9068941	20200609	RGD			PMID:31368266|REF_RGD_ID:14995445
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:4483	rhinitis		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		associated with Sinusitis	PMID:18423831|REF_RGD_ID:4145277
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:4676	uremia		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19092814
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:69051	D	RGD:9068941	20200609	RGD			PMID:12632524|REF_RGD_ID:1299231
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:16083599|REF_RGD_ID:2325020
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:4971	myelofibrosis		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma,bone marrow:	PMID:23462118|REF_RGD_ID:11073609
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:4971	myelofibrosis		ISO	RGD:69096	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spleen,bone marrow:	PMID:23462118|REF_RGD_ID:11073609
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:4971	myelofibrosis	treatment	ISO	RGD:69096	D	RGD:9068941	20200609	RGD			PMID:23462118|REF_RGD_ID:11073609
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:4997	Camurati-Engelmann disease		ISO	RGD:69095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Camurati-Engelmann Disease | ClinVar Annotator: match by term: Diaphyseal dysplasia	PMID:10973241|PMID:11810278|PMID:12493741|PMID:15326622|PMID:17206397|PMID:19584867|PMID:19654961|PMID:20308061|PMID:23846138|PMID:24154985|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30690794|PMID:30721323|PMID:32154989|PMID:35315241|PMID:35415221|PMID:36339419
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:5041	esophageal cancer		ISO	RGD:69095	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:30686515|REF_RGD_ID:14985228
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:69095	D	RGD:9068941	20251204	CTD		CTD Direct Evidence: marker/mechanism	PMID:21037076|PMID:35101388|PMID:36368619|PMID:38685136|PMID:38714084
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:5199	ureteral obstruction		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17164399
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:552	pneumonia		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:552	pneumonia		ISO	RGD:69096	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:19965809|REF_RGD_ID:4145120
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:552	pneumonia	severity	ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:19181604|REF_RGD_ID:4145141
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:69095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:557	kidney disease		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:11682445|PMID:14675041|PMID:18390891
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:57	aortic valve insufficiency		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21216836
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:576	proteinuria		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12937228
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:576	proteinuria	ameliorates	ISO	RGD:69051	D	RGD:9068941	20210827	RGD			PMID:23249995|REF_RGD_ID:13446413
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:5773	oral submucous fibrosis		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16311067
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:5773	oral submucous fibrosis		ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:10680515|REF_RGD_ID:7394849
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:5844	myocardial infarction		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:heart:	PMID:27121011|REF_RGD_ID:11073666
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:5844	myocardial infarction		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16310260
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		associated with Coronary Disease;DNA:polymorphism:promoter:-509C>T (human)	PMID:16543493|REF_RGD_ID:1601560
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:585	nephrolithiasis	treatment	ISO	RGD:69051	D	RGD:9068941	20200609	RGD			PMID:24712822|REF_RGD_ID:11073675
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:69095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:630	genetic disease		ISO	RGD:69095	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10973241|PMID:11810278|PMID:15326622|PMID:19654961|PMID:20308061|PMID:23846138|PMID:24154985|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30690794|PMID:32154989|PMID:36339419
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:19324949|REF_RGD_ID:4145138
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:6432	pulmonary hypertension	onset	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple (human)	PMID:18496036|REF_RGD_ID:4145273
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:674	cleft palate		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25450421
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9029167
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69096	D	RGD:9068941	20210702	RGD		mRNA:increased expression:liver (mouse)	PMID:28100771|REF_RGD_ID:127285675
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:767	muscular atrophy		ISO	RGD:69095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:10973241|PMID:12493741|PMID:17206397|PMID:19584867|PMID:23846138|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30721323|PMID:35315241|PMID:35415221
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:783	end stage renal disease		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney	PMID:10919844|REF_RGD_ID:7394838
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:783	end stage renal disease		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19420110
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:8398	osteoarthritis		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30664745
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:8472	localized scleroderma		ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:7510487|REF_RGD_ID:7394847
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:850	lung disease		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		Acute Lung Injury;mRNA, protein:increased expression:lung, plasma	PMID:19639047|REF_RGD_ID:4145127
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:850	lung disease		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		associated with Endotoxemia;mRNA, protein:increased expression:lung	PMID:19941153|REF_RGD_ID:4145122
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:850	lung disease		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11472967
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:850	lung disease		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis;DNA:SNPs: :rs1800469, rs1982073, rs8179181 (human	PMID:18424453|REF_RGD_ID:4145276
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:850	lung disease	severity	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis;DNA:SNP:exon:869T>C (human)	PMID:19466271|REF_RGD_ID:4144796
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:29951173|REF_RGD_ID:13782079
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:8616	Peyronie's disease		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14996430
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:870	neuropathy		ISO	RGD:69095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:10973241|PMID:12493741|PMID:17206397|PMID:19584867|PMID:23846138|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30721323|PMID:35315241|PMID:35415221
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:874	bacterial pneumonia	severity	ISO	RGD:69096	D	RGD:9068941	20200820	RGD			PMID:25398094|REF_RGD_ID:38501102
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:8866	actinic keratosis		ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:9274625|REF_RGD_ID:7394827
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:8893	psoriasis	severity	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15072741|REF_RGD_ID:7394851
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		mRNA:increased expression: :	PMID:24763013|REF_RGD_ID:11073603
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma:	PMID:24801815|REF_RGD_ID:11073600
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:8924	autoimmune thrombocytopenic purpura	disease_progression	ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:11886393|REF_RGD_ID:11073598
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:90	degenerative disc disease		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21351055
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9000011	Gallbladder Neoplasms	susceptibility	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:polymorphism: : -509C>T (human)	PMID:18571008|REF_RGD_ID:2317641
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:69051	D	RGD:9068941	20200609	RGD			PMID:15145083|REF_RGD_ID:2302103
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9000784	Fibrosis		ISO	RGD:69051	D	RGD:9068941	20200609	RGD			PMID:26923362|REF_RGD_ID:11073665
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9000784	Fibrosis		ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:2054795|PMID:9389733|REF_RGD_ID:737732|REF_RGD_ID:7394820
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9000784	Fibrosis		ISO	RGD:69095	D	RGD:9068941	20240111	CTD		CTD Direct Evidence: marker/mechanism	PMID:10469268|PMID:16306446|PMID:17947678|PMID:18705752|PMID:24142982|PMID:26054450|PMID:27870162|PMID:30809271|PMID:37436133
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23146760|PMID:23992306|PMID:26896736|PMID:31381904
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9001074	Posterior Leukoencephalopathy Syndrome		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29483653
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9001239	Delayed Puberty		ISO	RGD:69095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:10973241|PMID:12493741|PMID:17206397|PMID:19584867|PMID:23846138|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30721323|PMID:35315241|PMID:35415221
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:69095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:10973241|PMID:12493741|PMID:17206397|PMID:19584867|PMID:23846138|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30721323|PMID:35315241|PMID:35415221
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9001472	Nasal Polyps		ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:12761968|REF_RGD_ID:7394830
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9001472	Nasal Polyps		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		associated with Rhinitis	PMID:18423831|REF_RGD_ID:4145277
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9001472	Nasal Polyps		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:nasal cavity epithelium	PMID:23406597|REF_RGD_ID:7394852
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:16009107|REF_RGD_ID:1601595
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:12586293|PMID:15772939|PMID:16579972|PMID:26806094|PMID:27605418
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:69096	D	RGD:9068941	20201023	RGD		mRNA:increased expression:liver (mouse)	PMID:28465467|REF_RGD_ID:39939037
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9001573	Experimental Liver Cirrhosis	onset	ISO	RGD:69051	D	RGD:9068941	20200609	RGD		associated with extrahepatic cholestasis	PMID:30243650|REF_RGD_ID:14985234
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:69051	D	RGD:9068941	20200609	RGD			PMID:30092114|REF_RGD_ID:14985231
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:69096	D	RGD:9068941	20200609	RGD			PMID:27528511|REF_RGD_ID:14995475
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:69096	D	RGD:9068941	20200609	RGD		associated with Chemical and Drug Induced Liver Injury	PMID:28390311|REF_RGD_ID:14985232
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9001581	Constipation		ISO	RGD:69095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:10973241|PMID:12493741|PMID:17206397|PMID:19584867|PMID:23846138|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30721323|PMID:35315241|PMID:35415221
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28100771
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:69051	D	RGD:9068941	20200609	RGD			PMID:17117936|REF_RGD_ID:2302090
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		protein:increased expression:skin	PMID:12533868|REF_RGD_ID:2292211
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9001708	Hemorrhagic Shock	treatment	ISO	RGD:69051	D	RGD:9068941	20230803	RGD			PMID:16141011|REF_RGD_ID:401717565
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9001745	Fasciculation		ISO	RGD:69095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fasciculations	PMID:10973241|PMID:12493741|PMID:17206397|PMID:19584867|PMID:23846138|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30721323|PMID:35315241|PMID:35415221
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18682491|PMID:19960420
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69096	D	RGD:9068941	20200609	RGD		mRNA:increased expression:glomerulus	PMID:19211686|REF_RGD_ID:2306734
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:69051	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:24074026|REF_RGD_ID:7394855
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9002221	Hyperplasia		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20172950
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9002254	Dilatation, Pathologic		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		associated with Coronary Arteriosclerosis;protein:increased expression:plasma	PMID:17429295|REF_RGD_ID:1601551
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:69095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:10973241|PMID:12493741|PMID:17206397|PMID:19584867|PMID:23846138|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30721323|PMID:35315241|PMID:35415221
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15159307|PMID:18082198
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9002350	Hereditary Hemorrhagic Telangiectasia, Type 1		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma:	PMID:15907823|REF_RGD_ID:11041166
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:69051	D	RGD:9068941	20200609	RGD			PMID:29763498|REF_RGD_ID:15036801
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9002488	Peritoneal Fibrosis		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199790
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9002488	Peritoneal Fibrosis	treatment	ISO	RGD:69051	D	RGD:9068941	20200609	RGD			PMID:28190234|REF_RGD_ID:14985233
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		mRNA:increased expression:optic (II) nerve, sciatic nerve	PMID:14997937|REF_RGD_ID:2302105
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9002689	Spontaneous Neoplasm Regression		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11594583
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:central nervous system	PMID:17204936|REF_RGD_ID:2302088
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		protein:increased expression:heart:	PMID:27108788|REF_RGD_ID:11073667
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:69051	D	RGD:9068941	20230225	RGD		protein:increased expression:blood serum (rat)	PMID:27318893|REF_RGD_ID:156430318
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:69096	D	RGD:9068941	20200609	RGD			PMID:22134166|REF_RGD_ID:11073617
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9003139	Cardiac Fibrosis	ameliorates	ISO	RGD:69096	D	RGD:9068941	20230330	RGD			PMID:33236535|REF_RGD_ID:242905189
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9003548	Infant, Newborn, Diseases		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29483653
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:69095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:10973241|PMID:12493741|PMID:17206397|PMID:19584867|PMID:23846138|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30721323|PMID:35315241|PMID:35415221
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9003867	Lymphomatoid Papulosis		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11594583
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:heart	PMID:15542404|REF_RGD_ID:1581939
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9004018	Paraquat Lung		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:lung,serum:	PMID:24535699|REF_RGD_ID:11073678
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9004250	Hepatic Insufficiency		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026087
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9004303	Tubulointerstitial Fibrosis		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:15007308|REF_RGD_ID:1304308
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9004303	Tubulointerstitial Fibrosis	ameliorates	ISO	RGD:69051	D	RGD:9068941	20210827	RGD			PMID:23249995|REF_RGD_ID:13446413
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9004303	Tubulointerstitial Fibrosis	ameliorates	ISO	RGD:69096	D	RGD:9068941	20230921	RGD			PMID:32065356|REF_RGD_ID:401824679
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8148055
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9004484	Sepsis		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16003065
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:69095	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:23992306|PMID:24727557|PMID:24793912|PMID:25884904|PMID:26896736|PMID:32745479
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16100012
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:69096	D	RGD:9068941	20201022	RGD			PMID:25278421|REF_RGD_ID:39939031
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:69095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:10973241|PMID:12493741|PMID:17206397|PMID:19584867|PMID:23846138|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30721323|PMID:35315241|PMID:35415221
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9004914	Postmenopausal Osteoporosis		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10750555
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:11074608|PMID:11641043|PMID:17418594
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:69096	D	RGD:9068941	20200609	RGD			PMID:8466857|REF_RGD_ID:7394797
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026087
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9005372	Inflammation		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:19138248|PMID:20172950
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9005463	Occupational Diseases		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24142982
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:69095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:10973241|PMID:12493741|PMID:17206397|PMID:19584867|PMID:23846138|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30721323|PMID:35315241|PMID:35415221
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:15855808|REF_RGD_ID:1601583
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17177138|PMID:23090186
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9005729	Chronic Experimental Pancreatitis		ISO	RGD:69051	D	RGD:9068941	20200609	RGD			PMID:26645248|REF_RGD_ID:14995470
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9005734	Abdominal Pain		ISO	RGD:69095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:10973241|PMID:12493741|PMID:17206397|PMID:19584867|PMID:23846138|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30721323|PMID:35315241|PMID:35415221
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9005968	Neuralgia	treatment	ISO	RGD:69051	D	RGD:9068941	20200609	RGD			PMID:24979268|REF_RGD_ID:11073677
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		protein:increased expression:pulmonary artery	PMID:17213961|REF_RGD_ID:1601553
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:69051	D	RGD:9068941	20230527	RGD		mRNA:increased expression:carotic artery (rat)	PMID:9622270|REF_RGD_ID:329845558
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9006182	Carotid Artery Injuries	treatment	ISO	RGD:69051	D	RGD:9068941	20250306	RGD			PMID:30066831|REF_RGD_ID:597830142
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9006223	Kidney Reperfusion Injury	ameliorates	ISO	RGD:69096	D	RGD:9068941	20230601	RGD			PMID:24920753|REF_RGD_ID:329845564
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:69095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:10973241|PMID:12493741|PMID:17206397|PMID:19584867|PMID:23846138|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30721323|PMID:35315241|PMID:35415221
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9006392	Anetoderma		ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:9274625|REF_RGD_ID:7394827
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9006395	Copper-Overload Cirrhosis		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22879914
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9006600	Calvarial Hyperostosis		ISO	RGD:69095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Calvarial hyperostosis	PMID:10973241|PMID:12493741|PMID:17206397|PMID:19584867|PMID:23846138|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30721323|PMID:35315241|PMID:35415221
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		mRNA:increased expression:left heart ventricle	PMID:18692559|REF_RGD_ID:2306739
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9006956	nephrotoxicity	treatment	ISO	RGD:69051	D	RGD:9068941	20230622	RGD			PMID:37244046|REF_RGD_ID:329853759
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16635409
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9007332	Progressive Diaphyseal Dysplasia 1		ISO	RGD:69095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE | ClinVar Annotator: match by term: Diaphyseal dysplasia 1, progressive	PMID:25741868|PMID:28492532
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9007346	Cachexia		ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:2054795|REF_RGD_ID:7394820
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:69096	D	RGD:9068941	20200609	RGD			PMID:27516150|REF_RGD_ID:14995464
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9007480	Hyperoxia		ISO	RGD:69051	D	RGD:9068941	20200609	RGD			PMID:18353229|REF_RGD_ID:4145291
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9007480	Hyperoxia		ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:18245268|REF_RGD_ID:4145293
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9007480	Hyperoxia		ISO	RGD:69096	D	RGD:9068941	20200609	RGD		protein:decreased activity:lung	PMID:20220550|REF_RGD_ID:4145114
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9007588	Heart Injuries	ameliorates	ISO	RGD:69096	D	RGD:9068941	20230330	RGD		associated with obesity	PMID:32084395|REF_RGD_ID:242905211
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20172950
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9007661	Dwarfism		ISO	RGD:69095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10973241|PMID:11810278|PMID:12493741|PMID:15326622|PMID:17206397|PMID:19584867|PMID:19654961|PMID:20308061|PMID:23846138|PMID:24154985|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30690794|PMID:30721323|PMID:32154989|PMID:35315241|PMID:35415221|PMID:36339419
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:69051	D	RGD:9068941	20200609	RGD			PMID:22913380|REF_RGD_ID:12903950
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotypes: :869C>T (rs1800470), 11929C>T (rs1800472) (human)	PMID:28700046|REF_RGD_ID:14995436
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9008163	Chronic Hepatitis B	no_association	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-509C>T (rs1800469) (human)	PMID:28700046|REF_RGD_ID:14995436
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24836286
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22879914
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9008604	Radiation Pneumonitis		ISO	RGD:69051	D	RGD:9068941	20200609	RGD			PMID:18411002|REF_RGD_ID:4145278
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9008604	Radiation Pneumonitis		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:19943923|REF_RGD_ID:4145121
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9008604	Radiation Pneumonitis	susceptibility	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:869T>C (rs1982073) (human)	PMID:19380441|REF_RGD_ID:4145136
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9008604	Radiation Pneumonitis	treatment	ISO	RGD:69051	D	RGD:9068941	20250306	RGD			PMID:34036875|REF_RGD_ID:597830143
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9008763	Femoral Fractures		ISO	RGD:69095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Femur fracture	PMID:10973241|PMID:12493741|PMID:17206397|PMID:19584867|PMID:23846138|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30721323|PMID:35315241|PMID:35415221
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:19635314|REF_RGD_ID:4145129
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10646786
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9009237	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY		ISO	RGD:69095	D	RGD:7240710	20190315	OMIM			
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9009237	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY		ISO	RGD:69095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY | ClinVar Annotator: match by term: Inflammatory bowel disease, immunodeficiency, and encephalopathy | ClinVar Annotator: match by term: inflammatory bowel disease, immunodeficiency, and encephalopathy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29483653|PMID:9536098
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:69095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9256	colorectal cancer		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:12778073|REF_RGD_ID:13432088
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:69095	D	RGD:9068941	20200609	RGD			PMID:15057430|REF_RGD_ID:13432086
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:930	orbital disease		ISO	RGD:69095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:10973241|PMID:12493741|PMID:17206397|PMID:19584867|PMID:23846138|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812|PMID:30721323|PMID:35315241|PMID:35415221
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:69095	D	RGD:9068941	20220527	RGD		associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:increased expression:lung (human)	PMID:27411924|REF_RGD_ID:152975631
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:heart:	PMID:24613393|REF_RGD_ID:11073674
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:18646321|REF_RGD_ID:2306740
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:936	brain disease		ISO	RGD:69095	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:29483653
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9538	multiple myeloma		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:22560388|REF_RGD_ID:11073614
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9538	multiple myeloma	disease_progression	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:hypermethylation: :	PMID:23699600|REF_RGD_ID:11073605
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9663	aphthous stomatitis		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-509T>C (human)	PMID:27266194|REF_RGD_ID:14975145
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9675	pulmonary emphysema		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12634787
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9675	pulmonary emphysema	severity	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs:promoter:rs1800469, rs1982073 (human)	PMID:18670143|REF_RGD_ID:4145272
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9743	diabetic neuropathy		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA:increased expression:dorsal root ganglion	PMID:18406405|REF_RGD_ID:2302086
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9743	diabetic neuropathy		ISO	RGD:69095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16696316
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:18979373|REF_RGD_ID:2306737
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9970	obesity		ISO	RGD:69051	D	RGD:9068941	20200609	RGD		protein:increased expression:platelet	PMID:16477387|REF_RGD_ID:1601561
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9970	obesity		ISO	RGD:69095	D	RGD:9068941	20200609	RGD		associated with hypertension;protein:increased expression:blood	PMID:15944724|REF_RGD_ID:1601579
8773525	Tgfb1	transforming growth factor beta 1	gene	DOID:9970	obesity	severity	ISO	RGD:69095	D	RGD:9068941	20200609	RGD		protein:increased expression:adipose tissue	PMID:16253647|REF_RGD_ID:1601563
8773541	Nr4a3	nuclear receptor subfamily 4 group A member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8773541	Nr4a3	nuclear receptor subfamily 4 group A member 3	gene	DOID:3275	thymoma		ISO	RGD:1348747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8773541	Nr4a3	nuclear receptor subfamily 4 group A member 3	gene	DOID:4549	extraskeletal myxoid chondrosarcoma		ISO	RGD:1348747	D	RGD:7240710	20190315	OMIM			
8773541	Nr4a3	nuclear receptor subfamily 4 group A member 3	gene	DOID:4549	extraskeletal myxoid chondrosarcoma		ISO	RGD:1348747	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Extraskeletal myxoid chondrosarcoma	PMID:25741868
8773541	Nr4a3	nuclear receptor subfamily 4 group A member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773541	Nr4a3	nuclear receptor subfamily 4 group A member 3	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1348747	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8773541	Nr4a3	nuclear receptor subfamily 4 group A member 3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1348747	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19192274
8773541	Nr4a3	nuclear receptor subfamily 4 group A member 3	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1348747	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16005304
8773541	Nr4a3	nuclear receptor subfamily 4 group A member 3	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1348747	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17785466
8773557	Tp53rk	TP53 regulating kinase	gene	DOID:0080246	Galloway-Mowat syndrome 4		ISO	RGD:1317644	D	RGD:7240710	20190315	OMIM			
8773557	Tp53rk	TP53 regulating kinase	gene	DOID:0080246	Galloway-Mowat syndrome 4		ISO	RGD:1317644	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 4 | ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 | ClinVar Annotator: match by term: TP53RK-related condition	PMID:25741868|PMID:28492532|PMID:32581362|PMID:36873107
8773557	Tp53rk	TP53 regulating kinase	gene	DOID:0080694	Galloway-Mowat syndrome		ISO	RGD:1317644	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28805828
8773557	Tp53rk	TP53 regulating kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8773557	Tp53rk	TP53 regulating kinase	gene	DOID:1826	epilepsy		ISO	RGD:1317644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:32581362
8773557	Tp53rk	TP53 regulating kinase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1317644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532|PMID:32581362
8773557	Tp53rk	TP53 regulating kinase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317644	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:32581362
8773577	Cfap119	cilia and flagella associated protein 119	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8773577	Cfap119	cilia and flagella associated protein 119	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8773613	Emc4	ER membrane protein complex subunit 4	gene	DOID:0060058	lymphoma		ISO	RGD:1605682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8773613	Emc4	ER membrane protein complex subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1605682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8773613	Emc4	ER membrane protein complex subunit 4	gene	DOID:1909	melanoma		ISO	RGD:1605682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8773613	Emc4	ER membrane protein complex subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1605682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8773613	Emc4	ER membrane protein complex subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773613	Emc4	ER membrane protein complex subunit 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8773613	Emc4	ER membrane protein complex subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8773632	Gfra1	GDNF family receptor alpha 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8773632	Gfra1	GDNF family receptor alpha 1	gene	DOID:0051061	stroke		ISO	RGD:2681	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:11476594|REF_RGD_ID:6218974
8773632	Gfra1	GDNF family receptor alpha 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:2681	D	RGD:9068941	20200609	RGD			PMID:21865882|REF_RGD_ID:6218962
8773632	Gfra1	GDNF family receptor alpha 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:2681	D	RGD:9068941	20200609	RGD		mRNA:altered expression:brain	PMID:12210101|REF_RGD_ID:6218972
8773632	Gfra1	GDNF family receptor alpha 1	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:733164	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	
8773632	Gfra1	GDNF family receptor alpha 1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:2681	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord dorsal horn	PMID:20533358|REF_RGD_ID:6218963
8773632	Gfra1	GDNF family receptor alpha 1	gene	DOID:1324	lung cancer		ISO	RGD:733164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8773632	Gfra1	GDNF family receptor alpha 1	gene	DOID:2316	brain ischemia		ISO	RGD:2681	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex	PMID:10407114|REF_RGD_ID:6218981
8773632	Gfra1	GDNF family receptor alpha 1	gene	DOID:3049	Churg-Strauss syndrome		ISO	RGD:733164	D	RGD:9068941	20200609	RGD			PMID:9853108|REF_RGD_ID:6218983
8773632	Gfra1	GDNF family receptor alpha 1	gene	DOID:4362	cervical cancer		ISO	RGD:733164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8773632	Gfra1	GDNF family receptor alpha 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773632	Gfra1	GDNF family receptor alpha 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:733164	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8773632	Gfra1	GDNF family receptor alpha 1	gene	DOID:9001929	Hypoglossal Nerve Injuries		ISO	RGD:2681	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hypoglossal XII nerve	PMID:10407179|REF_RGD_ID:6218979
8773632	Gfra1	GDNF family receptor alpha 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2681	D	RGD:9068941	20200609	RGD			PMID:16464682|REF_RGD_ID:6218969
8773632	Gfra1	GDNF family receptor alpha 1	gene	DOID:9004001	Facial Nerve Injuries		ISO	RGD:2681	D	RGD:9068941	20200609	RGD		mRNA:increased expression:facial VII nucleus	PMID:9582449|REF_RGD_ID:6218984
8773632	Gfra1	GDNF family receptor alpha 1	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:2681	D	RGD:9068941	20240516	RGD		mRNA:increased expression:frontal cortex	PMID:11798749|REF_RGD_ID:728679
8773632	Gfra1	GDNF family receptor alpha 1	gene	DOID:9005365	Renal Hypodysplasia/Aplasia 4		ISO	RGD:733164	D	RGD:7240710	20220608	OMIM			
8773632	Gfra1	GDNF family receptor alpha 1	gene	DOID:9005365	Renal Hypodysplasia/Aplasia 4		ISO	RGD:733164	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GFRA1-related condition | ClinVar Annotator: match by term: RENAL HYPODYSPLASIA/APLASIA 4 | ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 4	PMID:25741868|PMID:28492532
8773632	Gfra1	GDNF family receptor alpha 1	gene	DOID:9005968	Neuralgia		ISO	RGD:733164	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18400411
8773632	Gfra1	GDNF family receptor alpha 1	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:2681	D	RGD:9068941	20200609	RGD			PMID:15144875|REF_RGD_ID:6218970
8773632	Gfra1	GDNF family receptor alpha 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8773632	Gfra1	GDNF family receptor alpha 1	gene	DOID:9810	polyarteritis nodosa		ISO	RGD:733164	D	RGD:9068941	20200609	RGD			PMID:9853108|REF_RGD_ID:6218983
8773654	Ppic	peptidylprolyl isomerase C	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1344607	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
8773662	Igfbp2	insulin like growth factor binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8773662	Igfbp2	insulin like growth factor binding protein 2	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:737357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8773662	Igfbp2	insulin like growth factor binding protein 2	gene	DOID:0080600	COVID-19		ISO	RGD:737357	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8773662	Igfbp2	insulin like growth factor binding protein 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737357	D	RGD:9068941	20200609	RGD		protein:decreased expression:temporal cortex:	PMID:18479783|REF_RGD_ID:10045894
8773662	Igfbp2	insulin like growth factor binding protein 2	gene	DOID:10763	hypertension		ISO	RGD:2873	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver, plasma	PMID:9396554|REF_RGD_ID:1626482
8773662	Igfbp2	insulin like growth factor binding protein 2	gene	DOID:10873	Kuhnt-Junius degeneration		ISO	RGD:737357	D	RGD:9068941	20200609	RGD		protein:increased expression:aqueous humor of eyeball:	PMID:24106111|REF_RGD_ID:10045867
8773662	Igfbp2	insulin like growth factor binding protein 2	gene	DOID:1459	hypothyroidism		ISO	RGD:2873	D	RGD:9068941	20200609	RGD			PMID:11834454|REF_RGD_ID:1626512
8773662	Igfbp2	insulin like growth factor binding protein 2	gene	DOID:2773	contact dermatitis		ISO	RGD:737357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
8773662	Igfbp2	insulin like growth factor binding protein 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:737357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26396155
8773662	Igfbp2	insulin like growth factor binding protein 2	gene	DOID:6039	uveal melanoma		ISO	RGD:737357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8773662	Igfbp2	insulin like growth factor binding protein 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980|PMID:25380136
8773662	Igfbp2	insulin like growth factor binding protein 2	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:737357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8773662	Igfbp2	insulin like growth factor binding protein 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2873	D	RGD:9068941	20241123	RGD		mRNA:altered expression:kidney	PMID:7536658|REF_RGD_ID:152176653
8773662	Igfbp2	insulin like growth factor binding protein 2	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:737357	D	RGD:9068941	20200609	RGD			PMID:16915540|REF_RGD_ID:1626481
8773662	Igfbp2	insulin like growth factor binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8773662	Igfbp2	insulin like growth factor binding protein 2	gene	DOID:9007480	Hyperoxia		ISO	RGD:2873	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:16288470|REF_RGD_ID:1626492
8773662	Igfbp2	insulin like growth factor binding protein 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:737357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22537059
8773662	Igfbp2	insulin like growth factor binding protein 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:737357	D	RGD:9068941	20200609	RGD			PMID:17259371|REF_RGD_ID:1626479
8773662	Igfbp2	insulin like growth factor binding protein 2	gene	DOID:9970	obesity		ISO	RGD:737357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22537059
8773662	Igfbp2	insulin like growth factor binding protein 2	gene	DOID:9970	obesity		ISO	RGD:737357	D	RGD:9068941	20200609	RGD			PMID:17259371|PMID:17426323|REF_RGD_ID:1626478|REF_RGD_ID:1626479
8773692	Rad51ap2	RAD51 associated protein 2	gene	DOID:0070587	spermatogenic failure 88		ISO	RGD:2311158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 88	PMID:25741868
8773692	Rad51ap2	RAD51 associated protein 2	gene	DOID:1909	melanoma		ISO	RGD:2311158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8773692	Rad51ap2	RAD51 associated protein 2	gene	DOID:3070	high grade glioma		ISO	RGD:2311158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8773692	Rad51ap2	RAD51 associated protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:2311158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8773708	Tspan9	tetraspanin 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8773708	Tspan9	tetraspanin 9	gene	DOID:1324	lung cancer		ISO	RGD:1602896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8773708	Tspan9	tetraspanin 9	gene	DOID:1909	melanoma		ISO	RGD:1602896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MALIGNANT MELANOMA, SOMATIC	
8773708	Tspan9	tetraspanin 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773708	Tspan9	tetraspanin 9	gene	DOID:6039	uveal melanoma		ISO	RGD:1602896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8773708	Tspan9	tetraspanin 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8773708	Tspan9	tetraspanin 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8773732	CUNH16orf89	chromosome unknown C16orf89 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8773732	CUNH16orf89	chromosome unknown C16orf89 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8773732	CUNH16orf89	chromosome unknown C16orf89 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8773732	CUNH16orf89	chromosome unknown C16orf89 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8773732	CUNH16orf89	chromosome unknown C16orf89 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773732	CUNH16orf89	chromosome unknown C16orf89 homolog	gene	DOID:6039	uveal melanoma		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8773732	CUNH16orf89	chromosome unknown C16orf89 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8773732	CUNH16orf89	chromosome unknown C16orf89 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8773751	Ctnna3	catenin alpha 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8773751	Ctnna3	catenin alpha 3	gene	DOID:0080171	esophageal atresia/tracheoesophageal fistula		ISO	RGD:1320341	D	RGD:9068941	20251218	RGD		DNA:SNP:intron:rs187017665	PMID:35199045|REF_RGD_ID:629136806
8773751	Ctnna3	catenin alpha 3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1320341	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:28492532
8773751	Ctnna3	catenin alpha 3	gene	DOID:0080815	childhood-onset asthma	exacerbates	ISO	RGD:1320341	D	RGD:9068941	20251206	RGD		DNA:SNPs:intron:rs7915695, rs7923078, rs7923279,rs6480203	PMID:26073756|REF_RGD_ID:11074595
8773751	Ctnna3	catenin alpha 3	gene	DOID:0080820	occupational asthma		ISO	RGD:1320341	D	RGD:9068941	20251204	RGD		DNA:SNPs:multiple:	PMID:19187332|REF_RGD_ID:629107244
8773751	Ctnna3	catenin alpha 3	gene	DOID:0080820	occupational asthma	susceptibility	ISO	RGD:1320341	D	RGD:9068941	20251206	RGD		DNA:SNPs: :rs10762058, rs7088181	PMID:22977168|REF_RGD_ID:629107245
8773751	Ctnna3	catenin alpha 3	gene	DOID:0110084	arrhythmogenic right ventricular dysplasia 13		ISO	RGD:1320341	D	RGD:7240710	20180130	OMIM			
8773751	Ctnna3	catenin alpha 3	gene	DOID:0110084	arrhythmogenic right ventricular dysplasia 13		ISO	RGD:1320341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 13 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 13	PMID:16199547|PMID:17576681|PMID:22421363|PMID:23136403|PMID:23375656|PMID:25050139|PMID:25640679|PMID:25741868|PMID:27231342|PMID:27535533|PMID:28202948|PMID:28416588|PMID:28492532|PMID:29544605|PMID:30847666|PMID:30975432|PMID:32880476|PMID:33497884|PMID:33789662|PMID:37529955|PMID:9536098
8773751	Ctnna3	catenin alpha 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320341	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8773751	Ctnna3	catenin alpha 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1320341	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:28492532
8773751	Ctnna3	catenin alpha 3	gene	DOID:1682	congenital heart disease		ISO	RGD:1320341	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: congenital heart disease	PMID:25741868|PMID:28492532|PMID:32880476
8773751	Ctnna3	catenin alpha 3	gene	DOID:2841	asthma		ISO	RGD:1320341	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:19187332
8773751	Ctnna3	catenin alpha 3	gene	DOID:2841	asthma	treatment	ISO	RGD:1320341	D	RGD:9068941	20251206	RGD		DNA:SNP: :rs1786929	PMID:24407380|REF_RGD_ID:629107246
8773751	Ctnna3	catenin alpha 3	gene	DOID:2843	long QT syndrome		ISO	RGD:1320341	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:28416588|PMID:28492532
8773751	Ctnna3	catenin alpha 3	gene	DOID:303	substance-related disorder		ISO	RGD:1320341	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8773751	Ctnna3	catenin alpha 3	gene	DOID:3070	high grade glioma		ISO	RGD:1320341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8773751	Ctnna3	catenin alpha 3	gene	DOID:4362	cervical cancer		ISO	RGD:1320341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8773751	Ctnna3	catenin alpha 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8773751	Ctnna3	catenin alpha 3	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1320341	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:28492532
8773751	Ctnna3	catenin alpha 3	gene	DOID:9007614	Paroxysmal Atrial Fibrillation		ISO	RGD:1320341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: paroxysmal atrial fibrillation	PMID:25741868
8773751	Ctnna3	catenin alpha 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8773776	Ffar4	free fatty acid receptor 4	gene	DOID:1324	lung cancer		ISO	RGD:1317919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8773776	Ffar4	free fatty acid receptor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773776	Ffar4	free fatty acid receptor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8773794	Pi4kb	phosphatidylinositol 4-kinase beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8773794	Pi4kb	phosphatidylinositol 4-kinase beta	gene	DOID:0070606	autosomal dominant nonsyndromic deafness 87		ISO	RGD:732673	D	RGD:7240710	20230505	OMIM			
8773794	Pi4kb	phosphatidylinositol 4-kinase beta	gene	DOID:0070606	autosomal dominant nonsyndromic deafness 87		ISO	RGD:732673	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 87 | ClinVar Annotator: match by term: PI4KB-related condition	
8773794	Pi4kb	phosphatidylinositol 4-kinase beta	gene	DOID:0080599	Coronavirus infectious disease		ISO	RGD:732673	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22253445
8773794	Pi4kb	phosphatidylinositol 4-kinase beta	gene	DOID:1324	lung cancer		ISO	RGD:732673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8773794	Pi4kb	phosphatidylinositol 4-kinase beta	gene	DOID:1909	melanoma		ISO	RGD:732673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8773794	Pi4kb	phosphatidylinositol 4-kinase beta	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:732673	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22253445
8773794	Pi4kb	phosphatidylinositol 4-kinase beta	gene	DOID:3070	high grade glioma		ISO	RGD:732673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8773794	Pi4kb	phosphatidylinositol 4-kinase beta	gene	DOID:3275	thymoma		ISO	RGD:732673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8773794	Pi4kb	phosphatidylinositol 4-kinase beta	gene	DOID:5041	esophageal cancer		ISO	RGD:732673	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8773794	Pi4kb	phosphatidylinositol 4-kinase beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773794	Pi4kb	phosphatidylinositol 4-kinase beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8773794	Pi4kb	phosphatidylinositol 4-kinase beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8773794	Pi4kb	phosphatidylinositol 4-kinase beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8773820	Adcy6	adenylate cyclase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8773820	Adcy6	adenylate cyclase 6	gene	DOID:0061264	lethal congenital contracture syndrome 8		ISO	RGD:735837	D	RGD:7240710	20180130	OMIM			
8773820	Adcy6	adenylate cyclase 6	gene	DOID:0061264	lethal congenital contracture syndrome 8		ISO	RGD:735837	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADCY6-related condition | ClinVar Annotator: match by term: LETHAL CONGENITAL CONTRACTURE SYNDROME 8 | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8	PMID:25741868|PMID:26257172|PMID:28492532
8773820	Adcy6	adenylate cyclase 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8773820	Adcy6	adenylate cyclase 6	gene	DOID:1324	lung cancer		ISO	RGD:735837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8773820	Adcy6	adenylate cyclase 6	gene	DOID:3275	thymoma		ISO	RGD:735837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8773820	Adcy6	adenylate cyclase 6	gene	DOID:4362	cervical cancer		ISO	RGD:735837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8773820	Adcy6	adenylate cyclase 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8773820	Adcy6	adenylate cyclase 6	gene	DOID:5199	ureteral obstruction		ISO	RGD:2035	D	RGD:9068941	20200609	RGD			PMID:18971210|REF_RGD_ID:2312654
8773820	Adcy6	adenylate cyclase 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8773820	Adcy6	adenylate cyclase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773820	Adcy6	adenylate cyclase 6	gene	DOID:630	genetic disease		ISO	RGD:735837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8773820	Adcy6	adenylate cyclase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8773867	Degs2	delta 4-desaturase, sphingolipid 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8773867	Degs2	delta 4-desaturase, sphingolipid 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773875	Catsperd	cation channel sperm associated auxiliary subunit delta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8773875	Catsperd	cation channel sperm associated auxiliary subunit delta	gene	DOID:1115	sarcoma		ISO	RGD:1604493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8773875	Catsperd	cation channel sperm associated auxiliary subunit delta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8773875	Catsperd	cation channel sperm associated auxiliary subunit delta	gene	DOID:3275	thymoma		ISO	RGD:1604493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8773875	Catsperd	cation channel sperm associated auxiliary subunit delta	gene	DOID:5041	esophageal cancer		ISO	RGD:1604493	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8773875	Catsperd	cation channel sperm associated auxiliary subunit delta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773875	Catsperd	cation channel sperm associated auxiliary subunit delta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8773875	Catsperd	cation channel sperm associated auxiliary subunit delta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8773985	Gpat4	glycerol-3-phosphate acyltransferase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8773985	Gpat4	glycerol-3-phosphate acyltransferase 4	gene	DOID:1115	sarcoma		ISO	RGD:1606717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8773985	Gpat4	glycerol-3-phosphate acyltransferase 4	gene	DOID:1324	lung cancer		ISO	RGD:1606717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8773985	Gpat4	glycerol-3-phosphate acyltransferase 4	gene	DOID:1909	melanoma		ISO	RGD:1606717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8773985	Gpat4	glycerol-3-phosphate acyltransferase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1606717	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8773985	Gpat4	glycerol-3-phosphate acyltransferase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8773985	Gpat4	glycerol-3-phosphate acyltransferase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1606717	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8773985	Gpat4	glycerol-3-phosphate acyltransferase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8773985	Gpat4	glycerol-3-phosphate acyltransferase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1606303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:26467025|PMID:28492532|PMID:30656474|PMID:32483926
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness	PMID:25741868
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:0050548	hereditary sensory and autonomic neuropathy		ISO	RGD:1606303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy	PMID:25741868
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25741868|PMID:28492532|PMID:28559085|PMID:30656474
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1606303	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Jeune Syndrome | ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome	
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:0050817	Stargardt disease		ISO	RGD:1606303	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Stargardt disease	PMID:30718709
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:21070897|PMID:21267618|PMID:22279524|PMID:24628582|PMID:25741868|PMID:27923065|PMID:28492532|PMID:31408049|PMID:32822874|PMID:9409377
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:0051030	neurodevelopmental disorder with microcephaly, absent speech, and hypotonia		ISO	RGD:1606303	D	RGD:7240710	20250129	OMIM			
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:0051030	neurodevelopmental disorder with microcephaly, absent speech, and hypotonia		ISO	RGD:1606303	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ABSENT SPEECH, AND HYPOTONIA | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia	PMID:25741868|PMID:26467025
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:0060249	scoliosis		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:21070897|PMID:21267618|PMID:22279524|PMID:24628582|PMID:25741868|PMID:27923065|PMID:28492532|PMID:31408049|PMID:32822874|PMID:9409377
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:0061157	retinopathy-sensory neuropathy syndrome		ISO	RGD:1606303	D	RGD:7240710	20180130	OMIM			
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:0061157	retinopathy-sensory neuropathy syndrome		ISO	RGD:1606303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FLVCR1-related condition | ClinVar Annotator: match by term: RETINOPATHY-SENSORY NEUROPATHY SYNDROME	PMID:17576681|PMID:21070897|PMID:21267618|PMID:22279524|PMID:22483575|PMID:22584997|PMID:23591405|PMID:24628582|PMID:25741868|PMID:26257771|PMID:26467025|PMID:27923065|PMID:28492532|PMID:28559085|PMID:30444160|PMID:30656474|PMID:31408049|PMID:32483926|PMID:32822874|PMID:34433355|PMID:9409377|PMID:9536098
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1606303	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:17576681|PMID:23591405|PMID:25741868|PMID:26467025|PMID:27353947|PMID:27923065|PMID:28492532|PMID:28766925|PMID:29192808|PMID:30356807|PMID:30656474|PMID:32037395|PMID:32531858|PMID:32984570|PMID:34906470|PMID:34931442|PMID:36909829|PMID:37469134|PMID:9536098
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:23591405|PMID:25741868|PMID:27923065|PMID:28492532|PMID:34906470|PMID:36909829|PMID:38405817|PMID:39306721
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:10907	microcephaly		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:1115	sarcoma		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:11162	respiratory failure		ISO	RGD:1606303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868|PMID:26467025|PMID:28492532|PMID:30656474|PMID:32483926
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:11830	myopia		ISO	RGD:1606303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:21070897|PMID:21267618|PMID:22279524|PMID:24628582|PMID:25741868|PMID:26467025|PMID:27923065|PMID:28492532|PMID:30656474|PMID:31408049|PMID:32483926|PMID:32822874|PMID:9409377
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1606303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:26467025|PMID:28492532|PMID:30656474|PMID:32483926
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:1618983	D	RGD:9068941	20220825	MouseDO		OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909	
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:1596	depressive disorder		ISO	RGD:1606303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:26467025|PMID:28492532|PMID:30656474|PMID:32483926
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:1826	epilepsy		ISO	RGD:1606303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26467025|PMID:28492532|PMID:30656474|PMID:32483926
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:1909	melanoma		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1606303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:21070897|PMID:21267618|PMID:22279524|PMID:24628582|PMID:25741868|PMID:26467025|PMID:27923065|PMID:28492532|PMID:30656474|PMID:31408049|PMID:32483926|PMID:32822874|PMID:9409377
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:2491	sensory peripheral neuropathy		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensory neuropathy	PMID:21070897|PMID:21267618|PMID:22279524|PMID:24628582|PMID:25741868|PMID:27923065|PMID:28492532|PMID:31408049|PMID:32822874|PMID:9409377
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:2841	asthma		ISO	RGD:1606303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:21070897|PMID:21267618|PMID:22279524|PMID:24628582|PMID:25741868|PMID:26467025|PMID:27923065|PMID:28492532|PMID:30656474|PMID:31408049|PMID:32483926|PMID:32822874|PMID:9409377
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:3275	thymoma		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:480	movement disease		ISO	RGD:1606303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:26467025|PMID:28492532|PMID:30656474|PMID:32483926
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:5723	optic atrophy		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:630	genetic disease		ISO	RGD:1606303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21070897|PMID:21267618|PMID:22279524|PMID:22483575|PMID:24628582|PMID:25741868|PMID:26467025|PMID:27923065|PMID:28492532|PMID:30656474|PMID:31408049|PMID:32483926|PMID:32822874|PMID:9409377
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:767	muscular atrophy		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25741868
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:17576681|PMID:23591405|PMID:25741868|PMID:26467025|PMID:27923065|PMID:28492532|PMID:34433355|PMID:9536098
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:870	neuropathy		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:21070897|PMID:21267618|PMID:22279524|PMID:24628582|PMID:25741868|PMID:27923065|PMID:28492532|PMID:31408049|PMID:32822874|PMID:9409377
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1606303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:26467025|PMID:28492532|PMID:30656474|PMID:32483926
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:9004866	Ataxia		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensory ataxia	PMID:21070897|PMID:21267618|PMID:22279524|PMID:22483575|PMID:24628582|PMID:25741868|PMID:27923065|PMID:28492532|PMID:28559085|PMID:31408049|PMID:32822874|PMID:9409377
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:21070897|PMID:21267618|PMID:22279524|PMID:24628582|PMID:25741868|PMID:27923065|PMID:28492532|PMID:31408049|PMID:32822874|PMID:9409377
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:9006030	Infant Death		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Death in infancy	PMID:25741868
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:25741868
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1606303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868|PMID:26467025|PMID:28492532|PMID:30656474|PMID:32483926
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:9007736	Vertigo		ISO	RGD:1606303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:26467025|PMID:28492532|PMID:30656474|PMID:32483926
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:9007892	Tics		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tics	PMID:21070897|PMID:21267618|PMID:22279524|PMID:24628582|PMID:25741868|PMID:27923065|PMID:28492532|PMID:31408049|PMID:32822874|PMID:9409377
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	PMID:25741868
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain insensitivity	PMID:21070897|PMID:21267618|PMID:22279524|PMID:24628582|PMID:25741868|PMID:27923065|PMID:28492532|PMID:31408049|PMID:32822874|PMID:9409377
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8774005	Flvcr1	FLVCR choline and heme transporter 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1606303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
8774020	Tfeb	transcription factor EB	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8774020	Tfeb	transcription factor EB	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8774020	Tfeb	transcription factor EB	gene	DOID:1115	sarcoma		ISO	RGD:1319997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8774020	Tfeb	transcription factor EB	gene	DOID:1324	lung cancer		ISO	RGD:1319997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8774020	Tfeb	transcription factor EB	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8774020	Tfeb	transcription factor EB	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8774020	Tfeb	transcription factor EB	gene	DOID:5041	esophageal cancer		ISO	RGD:1319997	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8774020	Tfeb	transcription factor EB	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8774020	Tfeb	transcription factor EB	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8774020	Tfeb	transcription factor EB	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8774020	Tfeb	transcription factor EB	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1319997	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: therapeutic	PMID:34562559
8774020	Tfeb	transcription factor EB	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8774020	Tfeb	transcription factor EB	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8774048	Tgm6	transglutaminase 6	gene	DOID:0050982	spinocerebellar ataxia 35		ISO	RGD:1349690	D	RGD:7240710	20180130	OMIM			
8774048	Tgm6	transglutaminase 6	gene	DOID:0050982	spinocerebellar ataxia 35		ISO	RGD:1349690	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 35 | ClinVar Annotator: match by term: Spinocerebellar ataxia 35 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 35 | ClinVar Annotator: match by term: TGM6-related condition	PMID:17576681|PMID:21106500|PMID:22162184|PMID:22287014|PMID:22554020|PMID:23206699|PMID:24627221|PMID:24637876|PMID:24755948|PMID:25133958|PMID:25253745|PMID:25741868|PMID:26467025|PMID:27965395|PMID:28492532|PMID:28934387|PMID:29590070|PMID:30229425|PMID:30670339|PMID:31920494|PMID:32259886|PMID:32426513|PMID:33160304|PMID:33378849|PMID:33432171|PMID:34008892|PMID:36644153|PMID:37007936|PMID:38255008|PMID:9536098
8774048	Tgm6	transglutaminase 6	gene	DOID:0080855	Parkinsonism		ISO	RGD:1349690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:22162184|PMID:22287014|PMID:22554020|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28934387|PMID:30229425|PMID:32259886|PMID:33160304|PMID:40786864
8774048	Tgm6	transglutaminase 6	gene	DOID:0080856	vascular Parkinsonism		ISO	RGD:1349690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vascular parkinsonism	PMID:22162184|PMID:22287014|PMID:22554020|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28934387|PMID:30229425|PMID:32259886|PMID:33160304|PMID:40786864
8774048	Tgm6	transglutaminase 6	gene	DOID:14330	Parkinson's disease		ISO	RGD:1349690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinson disease	PMID:22162184|PMID:22287014|PMID:22554020|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28934387|PMID:30229425|PMID:32259886|PMID:33160304|PMID:40786864
8774048	Tgm6	transglutaminase 6	gene	DOID:630	genetic disease		ISO	RGD:1349690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36644153
8774048	Tgm6	transglutaminase 6	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1349690	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	
8774048	Tgm6	transglutaminase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8774048	Tgm6	transglutaminase 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1349690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8774065	IRS1	insulin receptor substrate 1	gene	DOID:13223	uterine fibroid		ISO	RGD:733473	D	RGD:9068941	20231102	RGD		mRNA:increased expression:uterus (human)	PMID:23818951|REF_RGD_ID:401851920
8774065	Irs1	insulin receptor substrate 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8774065	Irs1	insulin receptor substrate 1	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:733473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9466558
8774065	Irs1	insulin receptor substrate 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:2922	D	RGD:9068941	20200609	RGD			PMID:20846698|REF_RGD_ID:6483014
8774065	Irs1	insulin receptor substrate 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:733473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:12679424
8774065	Irs1	insulin receptor substrate 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:733473	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TYPE 2 DIABETES MELLITUS	
8774065	Irs1	insulin receptor substrate 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10816	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:hippocampus	PMID:22476196|REF_RGD_ID:6482861
8774065	Irs1	insulin receptor substrate 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:2922	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus:	PMID:22527777|REF_RGD_ID:10045939
8774065	Irs1	insulin receptor substrate 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733473	D	RGD:9068941	20200609	RGD		protein:increased expression, increased serine phosphorylation, increased tyrosine phosphorylation:hippocampus CA1	PMID:22476197|REF_RGD_ID:6482860
8774065	Irs1	insulin receptor substrate 1	gene	DOID:10652	Alzheimer's disease	severity	ISO	RGD:733473	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:rs1801278(human)	PMID:24589556|REF_RGD_ID:10045932
8774065	Irs1	insulin receptor substrate 1	gene	DOID:10652	Alzheimer's disease	severity	ISO	RGD:733473	D	RGD:9068941	20200609	RGD		protein:altered expression:temporal cortex:	PMID:18479783|REF_RGD_ID:10045894
8774065	Irs1	insulin receptor substrate 1	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:10816	D	RGD:9068941	20200609	RGD			PMID:23011726|PMID:23660953|REF_RGD_ID:10045935|REF_RGD_ID:10403036
8774065	Irs1	insulin receptor substrate 1	gene	DOID:11476	osteoporosis		ISO	RGD:2922	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:multiple	PMID:22820932|REF_RGD_ID:7207063
8774065	Irs1	insulin receptor substrate 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:733473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10591678
8774065	Irs1	insulin receptor substrate 1	gene	DOID:1909	melanoma		ISO	RGD:733473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8774065	Irs1	insulin receptor substrate 1	gene	DOID:2018	hyperinsulinism		ISO	RGD:733473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19734900
8774065	Irs1	insulin receptor substrate 1	gene	DOID:3393	coronary artery disease		ISO	RGD:733473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10591678
8774065	Irs1	insulin receptor substrate 1	gene	DOID:3393	coronary artery disease		ISO	RGD:733473	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:G972R	PMID:10591678|REF_RGD_ID:1624974
8774065	Irs1	insulin receptor substrate 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8774065	Irs1	insulin receptor substrate 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8774065	Irs1	insulin receptor substrate 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733473	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8774065	Irs1	insulin receptor substrate 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30594912
8774065	Irs1	insulin receptor substrate 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1311924|PMID:23958494
8774065	Irs1	insulin receptor substrate 1	gene	DOID:783	end stage renal disease		ISO	RGD:2922	D	RGD:9068941	20200609	RGD		protein:decreased tyrosine phosphorylation:aorta	PMID:22942179|REF_RGD_ID:7207055
8774065	Irs1	insulin receptor substrate 1	gene	DOID:9000528	Coronary Disease		ISO	RGD:733473	D	RGD:9068941	20241010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
8774065	Irs1	insulin receptor substrate 1	gene	DOID:9002205	Periventricular Nodular Heterotopia 2		ISO	RGD:733473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive	PMID:25741868
8774065	Irs1	insulin receptor substrate 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:2922	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:growth plate:	PMID:22995397|REF_RGD_ID:8661261
8774065	Irs1	insulin receptor substrate 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15678496
8774065	Irs1	insulin receptor substrate 1	gene	DOID:9004086	AIDS Dementia Complex	severity	ISO	RGD:733473	D	RGD:9068941	20200609	RGD		protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte	PMID:22629383|REF_RGD_ID:10403033
8774065	Irs1	insulin receptor substrate 1	gene	DOID:9004484	Sepsis		ISO	RGD:2922	D	RGD:9068941	20200609	RGD		protein:decreased tyrosine phosphorylation, increased serine phosphorylation:gastrocnemius	PMID:19781177|REF_RGD_ID:6482862
8774065	Irs1	insulin receptor substrate 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2922	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:multiple	PMID:22820932|REF_RGD_ID:7207063
8774065	Irs1	insulin receptor substrate 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:733473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138235
8774065	Irs1	insulin receptor substrate 1	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2922	D	RGD:9068941	20200609	RGD			PMID:22983684|REF_RGD_ID:7207061
8774065	Irs1	insulin receptor substrate 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:10816	D	RGD:9068941	20200609	RGD		protein:increased tyrosine nitration, decreased tyrosine phosphorylation:skeletal muscle	PMID:21206533|REF_RGD_ID:6483008
8774065	Irs1	insulin receptor substrate 1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:2922	D	RGD:9068941	20200609	RGD		protein:decreased expression:skeletal muscle	PMID:10842668|REF_RGD_ID:6482864
8774065	Irs1	insulin receptor substrate 1	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:10816	D	RGD:9068941	20231026	RGD			PMID:31353547|REF_RGD_ID:401850595
8774065	Irs1	insulin receptor substrate 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8774065	Irs1	insulin receptor substrate 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:733473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23748240
8774065	Irs1	insulin receptor substrate 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:733473	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Insulin resistance, susceptibility to	
8774065	Irs1	insulin receptor substrate 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:733473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10591678
8774065	Irs1	insulin receptor substrate 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:733473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IRS1-related condition | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:12679424
8774065	Irs1	insulin receptor substrate 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:733473	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: IRS1-related condition | ClinVar Annotator: match by term: TYPE 2 DIABETES MELLITUS	PMID:25741868
8774065	Irs1	insulin receptor substrate 1	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:733473	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :p.P512A, p.G971R (human)	PMID:15561966|REF_RGD_ID:6482863
8774065	Irs1	insulin receptor substrate 1	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:733473	D	RGD:7240710	20240918	OMIM			
8774065	Irs1	insulin receptor substrate 1	gene	DOID:9970	obesity		ISO	RGD:2922	D	RGD:9068941	20200609	RGD		protein:decreased tyrosine phosphorylation, increased serine phosphorylation:skeletal muscle	PMID:22982470|REF_RGD_ID:7207062
8774065	Irs1	insulin receptor substrate 1	gene	DOID:9970	obesity		ISO	RGD:733473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23954404
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:731889	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19223503
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:0080600	COVID-19		ISO	RGD:731889	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:731889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731889	D	RGD:9068941	20200609	RGD			PMID:17145867|REF_RGD_ID:2715645
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:731889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:731889	D	RGD:9068941	20200609	RGD			PMID:17956886|REF_RGD_ID:2708463
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:731889	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs16941635 (human)	PMID:19377877|REF_RGD_ID:2683526
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:2671	transitional cell carcinoma	severity	ISO	RGD:731889	D	RGD:9068941	20200609	RGD			PMID:18245534|REF_RGD_ID:2701900
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:3070	high grade glioma		ISO	RGD:731889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:3500	gallbladder adenocarcinoma		ISO	RGD:731889	D	RGD:9068941	20200609	RGD		protein:increased expression:gallbladder	PMID:15017593|REF_RGD_ID:2722465
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:731889	D	RGD:9068941	20200609	RGD			PMID:18299147|REF_RGD_ID:2296067
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731889	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731889	D	RGD:9068941	20220818	RGD		protein:increased expression:liver (human)	PMID:19136513|REF_RGD_ID:2316317
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2319	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord dura mater (rat)	PMID:19672039|REF_RGD_ID:2316488
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731889	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:731889	D	RGD:9068941	20200609	RGD			PMID:17460776|REF_RGD_ID:2756028
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:731890	D	RGD:9068941	20200609	RGD			PMID:17575168|REF_RGD_ID:2711357
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:2319	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:thyroid gland (rat)	PMID:19298605|REF_RGD_ID:2314685
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:731889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8774071	Cdk1	cyclin dependent kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8774091	Sox30	SRY-box transcription factor 30	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8774091	Sox30	SRY-box transcription factor 30	gene	DOID:12336	male infertility		ISO	RGD:1602491	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Male infertility	
8774091	Sox30	SRY-box transcription factor 30	gene	DOID:1324	lung cancer		ISO	RGD:1602491	D	RGD:9068941	20220303	RGD		DNA:hypermethylation:lung:	PMID:25435374|REF_RGD_ID:151660338
8774091	Sox30	SRY-box transcription factor 30	gene	DOID:1324	lung cancer	exacerbates	ISO	RGD:1602491	D	RGD:9068941	20220303	RGD			PMID:25435374|REF_RGD_ID:151660338
8774091	Sox30	SRY-box transcription factor 30	gene	DOID:1909	melanoma		ISO	RGD:1602491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8774091	Sox30	SRY-box transcription factor 30	gene	DOID:3907	lung squamous cell carcinoma	disease_progression	ISO	RGD:1602491	D	RGD:9068941	20220303	RGD			PMID:26330328|REF_RGD_ID:11535423
8774091	Sox30	SRY-box transcription factor 30	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1602491	D	RGD:9068941	20220303	RGD			PMID:32443323|REF_RGD_ID:151660331
8774091	Sox30	SRY-box transcription factor 30	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1602491	D	RGD:9068941	20220303	RGD			PMID:26330328|REF_RGD_ID:11535423
8774091	Sox30	SRY-box transcription factor 30	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1602491	D	RGD:9068941	20220303	RGD			PMID:30312695|REF_RGD_ID:151660341
8774091	Sox30	SRY-box transcription factor 30	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1602491	D	RGD:9068941	20220303	RGD			PMID:30312695|REF_RGD_ID:151660341
8774091	Sox30	SRY-box transcription factor 30	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1602491	D	RGD:9068941	20220303	RGD		associated with lung non-small cell carcinoma;mRNA, protein:decreased expression: :	PMID:29739711|REF_RGD_ID:151660333
8774091	Sox30	SRY-box transcription factor 30	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1602491	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25435374
8774091	Sox30	SRY-box transcription factor 30	gene	DOID:9006618	Liver Metastasis	ameliorates	ISO	RGD:1313914	D	RGD:9068941	20220303	RGD			PMID:29739711|REF_RGD_ID:151660333
8774091	Sox30	SRY-box transcription factor 30	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8774091	Sox30	SRY-box transcription factor 30	gene	DOID:9009121	lung metastasis	ameliorates	ISO	RGD:1313914	D	RGD:9068941	20220303	RGD			PMID:29739711|REF_RGD_ID:151660333
8774104	Gsc	goosecoid homeobox	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8774104	Gsc	goosecoid homeobox	gene	DOID:9007856	Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities		ISO	RGD:736937	D	RGD:7240710	20180130	OMIM			
8774104	Gsc	goosecoid homeobox	gene	DOID:9007856	Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities		ISO	RGD:736937	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GSC-related condition | ClinVar Annotator: match by term: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES	PMID:25741868|PMID:28492532
8774104	Gsc	goosecoid homeobox	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:736937	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10433910
8774111	Serpine2	serpin family E member 2	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:70076	D	RGD:9068941	20250807	RGD		mRNA:increased expression: lung (human)	PMID:25199049|REF_RGD_ID:625778020
8774111	Serpine2	serpin family E member 2	gene	DOID:10534	stomach cancer		ISO	RGD:70076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8774111	Serpine2	serpin family E member 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:70076	D	RGD:9068941	20200609	RGD			PMID:2813392|REF_RGD_ID:2317937
8774111	Serpine2	serpin family E member 2	gene	DOID:10763	hypertension		ISO	RGD:3748	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:blood vessel	PMID:12524238|REF_RGD_ID:729767
8774111	Serpine2	serpin family E member 2	gene	DOID:1909	melanoma		ISO	RGD:70076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8774111	Serpine2	serpin family E member 2	gene	DOID:2841	asthma	susceptibility	ISO	RGD:70076	D	RGD:9068941	20250814	RGD		DNA:SNPs:multiple	PMID:21436250|REF_RGD_ID:625781352
8774111	Serpine2	serpin family E member 2	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:70076	D	RGD:9068941	20250814	RGD		DNA:SNP, haplotypes::(rs16865421) A>G (human)	PMID:19949669|REF_RGD_ID:625781365
8774111	Serpine2	serpin family E member 2	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:70076	D	RGD:9068941	20250814	RGD		DNA:SNP:: (rs16865421) (human)	PMID:31215134|REF_RGD_ID:625781363
8774111	Serpine2	serpin family E member 2	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:70076	D	RGD:9068941	20250814	RGD		DNA:SNPs,haplotypes:multiple (human)	PMID:16358219|PMID:17446335|PMID:21611750|REF_RGD_ID:625778022|REF_RGD_ID:625778023|REF_RGD_ID:625781364
8774111	Serpine2	serpin family E member 2	gene	DOID:3275	thymoma		ISO	RGD:70076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8774111	Serpine2	serpin family E member 2	gene	DOID:4362	cervical cancer		ISO	RGD:70076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8774111	Serpine2	serpin family E member 2	gene	DOID:4724	brain edema		ISO	RGD:3748	D	RGD:9068941	20200609	RGD		associated with Cerebral Hemorrhage	PMID:18442833|REF_RGD_ID:2317927
8774111	Serpine2	serpin family E member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8774111	Serpine2	serpin family E member 2	gene	DOID:9002884	Emphysema	susceptibility	ISO	RGD:70076	D	RGD:9068941	20250814	RGD		associated with nicotine dependence;DNA:SNP:intron 5: (rs975278)(human)	PMID:21067581|REF_RGD_ID:625781355
8774111	Serpine2	serpin family E member 2	gene	DOID:9003139	Cardiac Fibrosis	treatment	ISO	RGD:70077	D	RGD:9068941	20250807	RGD			PMID:27876880|REF_RGD_ID:625776933
8774111	Serpine2	serpin family E member 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3748	D	RGD:9068941	20200609	RGD			PMID:8261109|REF_RGD_ID:2317936
8774139	Znf365	zinc finger protein 365	gene	DOID:0080600	COVID-19		ISO	RGD:1605085	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8774162	Endog	endonuclease G	gene	DOID:2316	brain ischemia		ISO	RGD:1310763	D	RGD:9068941	20200609	RGD			PMID:18568342|REF_RGD_ID:9685367
8774162	Endog	endonuclease G	gene	DOID:6000	congestive heart failure		ISO	RGD:1310763	D	RGD:9068941	20200609	RGD		mRNa:decreased expression:heart:	PMID:17292393|REF_RGD_ID:9685393
8774162	Endog	endonuclease G	gene	DOID:767	muscular atrophy		ISO	RGD:1310763	D	RGD:9068941	20200609	RGD			PMID:15650125|REF_RGD_ID:9685359
8774162	Endog	endonuclease G	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1310763	D	RGD:9068941	20200609	RGD			PMID:16689664|REF_RGD_ID:8655990
8774162	Endog	endonuclease G	gene	DOID:9007090	Experimental Seizures		ISO	RGD:1310763	D	RGD:9068941	20241114	RGD			PMID:20077427|REF_RGD_ID:9685392
8774162	Endog	endonuclease G	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1310763	D	RGD:9068941	20200609	RGD		protein:decreased expression:mitochondrion:	PMID:22509279|REF_RGD_ID:9685364
8774168	Htr1f	5-hydroxytryptamine receptor 1F	gene	DOID:6364	migraine		ISO	RGD:734005	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:35115687
8774168	Htr1f	5-hydroxytryptamine receptor 1F	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:0060260	ptosis		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:16199547|PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:28492532
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:0060735	generalized severe epidermolysis bullosa simplex 1A		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe	PMID:25741868
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:0060738	junctional epidermolysis bullosa non-Herlitz type		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type | ClinVar Annotator: match by term: junctional epidermolysis bullosa, non-Herlitz type	PMID:12813757|PMID:16199547|PMID:16473856|PMID:17344927|PMID:17576681|PMID:20301304|PMID:21357940|PMID:24033266|PMID:24319098|PMID:24814191|PMID:25741868|PMID:25803036|PMID:28492532|PMID:28813618|PMID:33274474|PMID:36287101|PMID:9536098
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:0070337	epithelial recurrent erosion dystrophy		ISO	RGD:1322425	D	RGD:7240710	20180130	OMIM			
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:0070337	epithelial recurrent erosion dystrophy		ISO	RGD:1322425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORNEAL EROSIONS, RECURRING HEREDITARY | ClinVar Annotator: match by term: EPITHELIAL RECURRENT EROSION DYSTROPHY | ClinVar Annotator: match by term: Epithelial recurrent erosion dystrophy	PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:25676728|PMID:25741868|PMID:26786512|PMID:28492532|PMID:37979963
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:0110054	amelogenesis imperfecta type 1A		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A	PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:25741868|PMID:28492532|PMID:37979963
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:11758	iron deficiency anemia		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iron deficiency anemia	PMID:25741868
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:11830	myopia		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:16199547|PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:28492532
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:12306	vitiligo		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vitiligo	PMID:25741868
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1322425	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: amelogenesis imperfecta	PMID:25741868
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:3209	junctional epidermolysis bullosa		ISO	RGD:1322425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis | ClinVar Annotator: match by term: Junctional epidermolysis bullosa	PMID:10577906|PMID:11406649|PMID:11851893|PMID:12813757|PMID:16199547|PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:25741868|PMID:28492532|PMID:30673110|PMID:33393081|PMID:7550320
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:3209	junctional epidermolysis bullosa	susceptibility	ISO	RGD:1322425	D	RGD:9068941	20200609	RGD			PMID:7550320|REF_RGD_ID:1600884
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:3275	thymoma		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1322425	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:630	genetic disease		ISO	RGD:1322425	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:25741868|PMID:28492532
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:693	dental enamel hypoplasia		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enamel hypoplasia	PMID:25741868
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:7998	hyperthyroidism		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:16199547|PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:28492532
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:8506	bullous pemphigoid		ISO	RGD:1322426	D	RGD:9068941	20260319	MouseDO			
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9000413	Junctional Epidermolysis Bullosa 4, Intermediate		ISO	RGD:1322425	D	RGD:7240710	20220608	OMIM			
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9000413	Junctional Epidermolysis Bullosa 4, Intermediate		ISO	RGD:1322425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COL17A1-related condition | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate	PMID:10636730|PMID:10951237|PMID:11406649|PMID:14614394|PMID:16199547|PMID:16354180|PMID:16473856|PMID:17344927|PMID:17576681|PMID:19340010|PMID:20301304|PMID:21357940|PMID:24319098|PMID:24668667|PMID:25741868|PMID:28492532|PMID:33393081|PMID:9077475|PMID:9204958|PMID:9536098|PMID:9583744
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9000641	Pain		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	PMID:25741868
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9000850	Junctional Epidermolysis Bullosa 1A, Intermediate		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE	PMID:12813757|PMID:25741868
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9004538	Hearing Loss		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:16199547|PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:28492532
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9005695	Malnutrition		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malnutrition	PMID:25741868
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9007736	Vertigo		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:16199547|PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:28492532
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868|PMID:28492532
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9834	hyperopia		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:16199547|PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:28492532
8774190	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:987	alopecia		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alopecia	PMID:25741868
8774253	LOC102027549	serotransferrin	gene	DOID:0050425	restless legs syndrome		ISO	RGD:1342593	D	RGD:9068941	20211029	CTD		CTD Direct Evidence: marker/mechanism	PMID:16930377
8774253	LOC102027549	serotransferrin	gene	DOID:0050425	restless legs syndrome		ISO	RGD:1342593	D	RGD:9068941	20211029	RGD			PMID:23369046|REF_RGD_ID:7244177
8774253	LOC102027549	serotransferrin	gene	DOID:0050642	hypochromic microcytic anemia		ISO	RGD:1342593	D	RGD:9068941	20211029	CTD		CTD Direct Evidence: marker/mechanism	PMID:11110675
8774253	LOC102027549	serotransferrin	gene	DOID:0050649	atransferrinemia		ISO	RGD:1342593	D	RGD:7240710	20211027	OMIM			
8774253	LOC102027549	serotransferrin	gene	DOID:0050649	atransferrinemia		ISO	RGD:1342593	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATRANSFERRINEMIA | ClinVar Annotator: match by term: Atransferrinemia | ClinVar Annotator: match by term: TF-related condition	PMID:11703331|PMID:11920219|PMID:12111369|PMID:17768112|PMID:21665994|PMID:25741868|PMID:25773295|PMID:28492532|PMID:34828384
8774253	LOC102027549	serotransferrin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342593	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8774253	LOC102027549	serotransferrin	gene	DOID:10283	prostate cancer		ISO	RGD:1342593	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8774253	LOC102027549	serotransferrin	gene	DOID:10283	prostate cancer		ISO	RGD:1342593	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8774253	LOC102027549	serotransferrin	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1342593	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TRANSFERRIN VARIANT C1/C2	PMID:25741868|PMID:28492532
8774253	LOC102027549	serotransferrin	gene	DOID:10763	hypertension		ISO	RGD:1342593	D	RGD:9068941	20211029	RGD		protein:decreased expression	PMID:14974364|REF_RGD_ID:1601524
8774253	LOC102027549	serotransferrin	gene	DOID:10976	membranous glomerulonephritis		ISO	RGD:1342593	D	RGD:9068941	20211029	RGD		associated with Lupus Erythematosus, Systemic	PMID:22328173|REF_RGD_ID:7244198
8774253	LOC102027549	serotransferrin	gene	DOID:1115	sarcoma		ISO	RGD:1342593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8774253	LOC102027549	serotransferrin	gene	DOID:11758	iron deficiency anemia	susceptibility	ISO	RGD:1342593	D	RGD:9068941	20211029	RGD		DNA:missense mutation:exon:p.G277S	PMID:11703331|REF_RGD_ID:1601513
8774253	LOC102027549	serotransferrin	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1342593	D	RGD:9068941	20211029	CTD		CTD Direct Evidence: marker/mechanism	PMID:17178036
8774253	LOC102027549	serotransferrin	gene	DOID:12849	autistic disorder		ISO	RGD:1342593	D	RGD:9068941	20211029	CTD		CTD Direct Evidence: marker/mechanism	PMID:15363659
8774253	LOC102027549	serotransferrin	gene	DOID:1496	echinococcosis		ISO	RGD:1342593	D	RGD:9068941	20211029	CTD		CTD Direct Evidence: marker/mechanism	PMID:24270252
8774253	LOC102027549	serotransferrin	gene	DOID:1574	alcohol use disorder		ISO	RGD:1342593	D	RGD:9068941	20211029	CTD		CTD Direct Evidence: marker/mechanism	PMID:11000917|PMID:21792595
8774253	LOC102027549	serotransferrin	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1342593	D	RGD:9068941	20211029	CTD		CTD Direct Evidence: marker/mechanism	PMID:26818092
8774253	LOC102027549	serotransferrin	gene	DOID:1909	melanoma		ISO	RGD:1342593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8774253	LOC102027549	serotransferrin	gene	DOID:2237	hepatitis		ISO	RGD:1342593	D	RGD:9068941	20211029	CTD		CTD Direct Evidence: marker/mechanism	PMID:21907177
8774253	LOC102027549	serotransferrin	gene	DOID:2237	hepatitis		ISO	RGD:3845	D	RGD:9068941	20211029	RGD		protein:decreased modification:serum	PMID:16480686|REF_RGD_ID:1601541
8774253	LOC102027549	serotransferrin	gene	DOID:2355	anemia		ISO	RGD:3845	D	RGD:9068941	20211029	RGD		associated with Trypanosomiasis;protein:increased expression:serum	PMID:23270806|REF_RGD_ID:7244377
8774253	LOC102027549	serotransferrin	gene	DOID:2355	anemia	treatment	ISO	RGD:1342593	D	RGD:9068941	20211029	RGD		associated with Heart Failure	PMID:23680589|REF_RGD_ID:7244154
8774253	LOC102027549	serotransferrin	gene	DOID:2921	glomerulonephritis	severity	ISO	RGD:1342593	D	RGD:9068941	20211029	RGD			PMID:22607047|REF_RGD_ID:7244194
8774253	LOC102027549	serotransferrin	gene	DOID:3021	acute kidney failure		ISO	RGD:1342593	D	RGD:9068941	20211029	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
8774253	LOC102027549	serotransferrin	gene	DOID:305	carcinoma		ISO	RGD:1342593	D	RGD:9068941	20211029	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942|PMID:9879772
8774253	LOC102027549	serotransferrin	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1342593	D	RGD:9068941	20211029	CTD		CTD Direct Evidence: marker/mechanism	PMID:19381893
8774253	LOC102027549	serotransferrin	gene	DOID:4195	hyperglycemia	susceptibility	ISO	RGD:1342593	D	RGD:9068941	20211029	RGD			PMID:16936158|REF_RGD_ID:1601518
8774253	LOC102027549	serotransferrin	gene	DOID:4362	cervical cancer		ISO	RGD:1342593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8774253	LOC102027549	serotransferrin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8774253	LOC102027549	serotransferrin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8774253	LOC102027549	serotransferrin	gene	DOID:6039	uveal melanoma		ISO	RGD:1342593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8774253	LOC102027549	serotransferrin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8774253	LOC102027549	serotransferrin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8774253	LOC102027549	serotransferrin	gene	DOID:77	gastrointestinal system disease		ISO	RGD:1342593	D	RGD:9068941	20211029	RGD		associated with Anemia and Renal Insufficiency, Chronic	PMID:23055815|REF_RGD_ID:7244197
8774253	LOC102027549	serotransferrin	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1342593	D	RGD:9068941	20211029	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942|PMID:9879772
8774253	LOC102027549	serotransferrin	gene	DOID:9000998	Brain Injuries		ISO	RGD:3845	D	RGD:9068941	20211029	RGD			PMID:22538758|REF_RGD_ID:7244386
8774253	LOC102027549	serotransferrin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:11406	D	RGD:9068941	20240919	CTD		CTD Direct Evidence: marker/mechanism	PMID:15650968
8774253	LOC102027549	serotransferrin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3845	D	RGD:9068941	20211029	RGD			PMID:22464783|REF_RGD_ID:7244387
8774253	LOC102027549	serotransferrin	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:3845	D	RGD:9068941	20211029	RGD			PMID:23468095|REF_RGD_ID:7244196
8774253	LOC102027549	serotransferrin	gene	DOID:9002955	Nerve Degeneration	resistance	ISO	RGD:3845	D	RGD:9068941	20211029	RGD			PMID:17010319|REF_RGD_ID:1601536
8774253	LOC102027549	serotransferrin	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:3845	D	RGD:9068941	20211029	RGD		associated with Iron-Deficiency Anemia;protein:increased expression:basal ganglia	PMID:16671451|REF_RGD_ID:1601537
8774253	LOC102027549	serotransferrin	gene	DOID:9003565	Paratuberculosis		ISO	RGD:1342593	D	RGD:9068941	20211029	CTD		CTD Direct Evidence: marker/mechanism	PMID:22633222
8774253	LOC102027549	serotransferrin	gene	DOID:9003676	Brain Hypoxia-Ischemia	treatment	ISO	RGD:1342593	D	RGD:9068941	20211029	RGD			PMID:22736466|REF_RGD_ID:7244383
8774253	LOC102027549	serotransferrin	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1342593	D	RGD:9068941	20211029	CTD		CTD Direct Evidence: marker/mechanism	PMID:20390345
8774253	LOC102027549	serotransferrin	gene	DOID:9004713	Acute-Phase Reaction		ISO	RGD:3845	D	RGD:9068941	20211029	RGD			PMID:17417667|REF_RGD_ID:1601529
8774253	LOC102027549	serotransferrin	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1342593	D	RGD:9068941	20211029	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942|PMID:9879772
8774253	LOC102027549	serotransferrin	gene	DOID:9005372	Inflammation		ISO	RGD:1342593	D	RGD:9068941	20211029	CTD		CTD Direct Evidence: marker/mechanism	PMID:20008134
8774253	LOC102027549	serotransferrin	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3845	D	RGD:9068941	20211029	RGD			PMID:17081048|REF_RGD_ID:1601532
8774253	LOC102027549	serotransferrin	gene	DOID:9005725	Iron Overload		ISO	RGD:1342593	D	RGD:9068941	20211029	CTD		CTD Direct Evidence: marker/mechanism	PMID:11110675
8774253	LOC102027549	serotransferrin	gene	DOID:9006646	Metabolic Syndrome	susceptibility	ISO	RGD:1342593	D	RGD:9068941	20211029	RGD		protein:increased expression:serum	PMID:17416791|REF_RGD_ID:1601514
8774253	LOC102027549	serotransferrin	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1342593	D	RGD:9068941	20211029	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
8774253	LOC102027549	serotransferrin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8774253	LOC102027549	serotransferrin	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1342593	D	RGD:9068941	20211029	CTD		CTD Direct Evidence: marker/mechanism	PMID:16099942
8774253	LOC102027549	serotransferrin	gene	DOID:9007692	Insulin Resistance		ISO	RGD:3845	D	RGD:9068941	20211029	RGD		protein:increased expression:plasma	PMID:17350134|REF_RGD_ID:1601515
8774253	LOC102027549	serotransferrin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8774253	LOC102027549	serotransferrin	gene	DOID:9452	steatotic liver disease		ISO	RGD:1342593	D	RGD:9068941	20211029	CTD		CTD Direct Evidence: marker/mechanism	PMID:20008134|PMID:21907177
8774253	LOC102027549	serotransferrin	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1342593	D	RGD:9068941	20211029	RGD			PMID:22861364|REF_RGD_ID:7244379
8774253	LOC102027549	serotransferrin	gene	DOID:9970	obesity		ISO	RGD:1342593	D	RGD:9068941	20211029	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
8774253	LOC102027549	serotransferrin	gene	DOID:9970	obesity		ISO	RGD:3845	D	RGD:9068941	20211029	RGD			PMID:16267817|REF_RGD_ID:1601520
8774274	Stxbp5l	syntaxin binding protein 5L	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8774274	Stxbp5l	syntaxin binding protein 5L	gene	DOID:10534	stomach cancer		ISO	RGD:1323085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8774274	Stxbp5l	syntaxin binding protein 5L	gene	DOID:1324	lung cancer		ISO	RGD:1323085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8774274	Stxbp5l	syntaxin binding protein 5L	gene	DOID:1909	melanoma		ISO	RGD:1323085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8774274	Stxbp5l	syntaxin binding protein 5L	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8774274	Stxbp5l	syntaxin binding protein 5L	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8774274	Stxbp5l	syntaxin binding protein 5L	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8774274	Stxbp5l	syntaxin binding protein 5L	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8774274	Stxbp5l	syntaxin binding protein 5L	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8774274	Stxbp5l	syntaxin binding protein 5L	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8774274	Stxbp5l	syntaxin binding protein 5L	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0050741	alcohol dependence	disease_progression	ISO	RGD:737102	D	RGD:9068941	20231230	RGD		associated with schizophrenia; DNA:promoter:Hypermethylation	PMID:16984965|REF_RGD_ID:401940146
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0050741	alcohol dependence	onset	ISO	RGD:737102	D	RGD:9068941	20231228	RGD		DNA:polymorphism:exon: p.V158M (human)	PMID:10698363|REF_RGD_ID:401940118
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0050741	alcohol dependence	onset	ISO	RGD:737102	D	RGD:9068941	20231230	RGD		DNA:SNP:cd: p.V158M (human)	PMID:11244495|REF_RGD_ID:401940131
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0050741	alcohol dependence	onset	ISO	RGD:737102	D	RGD:9068941	20231230	RGD		DNA:polymorphism:exon 4: p.V158M (rs4680)(human)	PMID:25035107|REF_RGD_ID:401940148
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0050741	alcohol dependence	sexual_dimorphism	ISO	RGD:737102	D	RGD:9068941	20240104	RGD		associated with major depressive disorder; DNA:SNP:cd: p.V158M (human)	PMID:20860878|REF_RGD_ID:401940149
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:737102	D	RGD:9068941	20231228	RGD		associated with Alzheimer's disease; DNA:SNP:cd: P.V158M G>A (rs4680) (human)	PMID:25491588|REF_RGD_ID:11073926
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:737102	D	RGD:9068941	20231228	RGD		associated with Trauma and Stressor Related Disorders ; DNA:polymorphism:exon: p.V158M (human)	PMID:31150143|REF_RGD_ID:401940120
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:737102	D	RGD:9068941	20240104	RGD		DNA:SNP:cd: p.V158M (human)	PMID:16648777|PMID:20517217|REF_RGD_ID:401940133|REF_RGD_ID:401940155
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:737102	D	RGD:9068941	20240104	RGD		DNA:SNP:cd: p.V158M (rs4680) (human)	PMID:24390676|REF_RGD_ID:401940156
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:737102	D	RGD:9068941	20240201	RGD		DNA:SNPs,haplotype:exon 4: p.V158M (rs4680) (human)	PMID:16499480|REF_RGD_ID:401959300
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:737102	D	RGD:9068941	20240201	RGD		DNA:SNPs,haplotypes:: (rs165774,rs4680) (human)	PMID:22208661|REF_RGD_ID:401959747
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0050742	nicotine dependence		ISO	RGD:737102	D	RGD:9068941	20240118	RGD		DNA:promoter:methylation	PMID:21423427|REF_RGD_ID:401959312
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0050742	nicotine dependence		ISO	RGD:737102	D	RGD:9068941	20240125	RGD		DNA:hypermethylation:promoter	PMID:24902721|REF_RGD_ID:401940112
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0050742	nicotine dependence	onset	ISO	RGD:737102	D	RGD:9068941	20240118	RGD		DNA:SNP:exon 3: G1947A, p.V158M (rs4680) (human)	PMID:17206495|REF_RGD_ID:401959230
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0050742	nicotine dependence	sexual_dimorphism	ISO	RGD:737102	D	RGD:9068941	20240201	RGD		DNA:SNPs,haplotypes:promoter,exons:mutliple	PMID:16499480|REF_RGD_ID:401959300
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:732613	D	RGD:9068941	20240201	RGD		DNA:SNPs,haplotype:intron 1: (rs9332377) (human)	PMID:21312287|REF_RGD_ID:401959233
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:737102	D	RGD:9068941	20231228	RGD		DNA:SNP:cd: (rs4680) (human)	PMID:28472995|REF_RGD_ID:401940107
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:737102	D	RGD:9068941	20231230	RGD		DNA:SNP:cd: p.V158M (human)	PMID:20188797|REF_RGD_ID:401940136
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:737102	D	RGD:9068941	20240104	RGD		DNA:SNPs,haplotypes:intron1,exon 4,intron 5: (rs740603,rs4680, rs174699) (human)	PMID:16395295|REF_RGD_ID:401940152
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0050742	nicotine dependence	treatment	ISO	RGD:737102	D	RGD:9068941	20240106	RGD		DNA:SNPs:3'utr: (rs737865, rs165599) (human)	PMID:16876132|REF_RGD_ID:401940189
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0050771	pheochromocytoma		ISO	RGD:737102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22569243
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0060001	withdrawal disorder	susceptibility	ISO	RGD:737102	D	RGD:9068941	20240111	RGD		associated with alcohol dependence; DNA:SNP:cd: c.158G>A (human)	PMID:11900601|REF_RGD_ID:401940190
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:737102	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0060041	autism spectrum disorder	susceptibility	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		associated with velocardiofacial syndrome;DNA:polymorphism:cds:rs4680(p.V158M)(human)	PMID:25325218|REF_RGD_ID:13451123
8774319	Comt	catechol-O-methyltransferase	gene	DOID:0080855	Parkinsonism		ISO	RGD:2379	D	RGD:9068941	20200609	RGD			PMID:15698633|REF_RGD_ID:2289785
8774319	Comt	catechol-O-methyltransferase	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.V158M	PMID:16126332|REF_RGD_ID:2289720
8774319	Comt	catechol-O-methyltransferase	gene	DOID:10283	prostate cancer	no_association	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.V158M	PMID:17507624|REF_RGD_ID:2289719
8774319	Comt	catechol-O-methyltransferase	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds	PMID:16492910|REF_RGD_ID:2289718
8774319	Comt	catechol-O-methyltransferase	gene	DOID:10591	pre-eclampsia		ISO	RGD:10378	D	RGD:9068941	20220825	MouseDO		OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592	
8774319	Comt	catechol-O-methyltransferase	gene	DOID:10763	hypertension		ISO	RGD:2379	D	RGD:9068941	20200609	RGD			PMID:14714585|PMID:17510509|REF_RGD_ID:2289787|REF_RGD_ID:8662344
8774319	Comt	catechol-O-methyltransferase	gene	DOID:10763	hypertension		ISO	RGD:2379	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex	PMID:17978496|REF_RGD_ID:2289729
8774319	Comt	catechol-O-methyltransferase	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :-1187G>C, 186C>T	PMID:17143180|REF_RGD_ID:2289742
8774319	Comt	catechol-O-methyltransferase	gene	DOID:10933	obsessive-compulsive disorder		ISO	RGD:737102	D	RGD:9068941	20200609	RGD			PMID:11840516|REF_RGD_ID:1300383
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:737102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10490706
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1094	attention deficit hyperactivity disorder	no_association	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.V158M(human)	PMID:24035255|REF_RGD_ID:13450946
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1094	attention deficit hyperactivity disorder	susceptibility	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:rs4680(p.V158M)(human)	PMID:19946713|REF_RGD_ID:13450945
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1094	attention deficit hyperactivity disorder	treatment	ISO	RGD:737102	D	RGD:9068941	20200609	RGD			PMID:27121430|REF_RGD_ID:13451120
8774319	Comt	catechol-O-methyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737102	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder, urine	PMID:15596044|REF_RGD_ID:2289726
8774319	Comt	catechol-O-methyltransferase	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:737102	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 22q11.2 deletion syndrome	PMID:25741868
8774319	Comt	catechol-O-methyltransferase	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:737102	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:17535988|REF_RGD_ID:2289711
8774319	Comt	catechol-O-methyltransferase	gene	DOID:12129	bulimia nervosa	susceptibility	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype:	PMID:21300128|REF_RGD_ID:13451125
8774319	Comt	catechol-O-methyltransferase	gene	DOID:12306	vitiligo		ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.V158M (human)	PMID:19112571|REF_RGD_ID:8662333
8774319	Comt	catechol-O-methyltransferase	gene	DOID:12306	vitiligo	no_association	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.V158M (human)	PMID:24915010|REF_RGD_ID:8662336
8774319	Comt	catechol-O-methyltransferase	gene	DOID:12399	pathological gambling	susceptibility	ISO	RGD:737102	D	RGD:9068941	20240104	RGD		DNA:SNP:cd: p.V158M (rs4680) (human)	PMID:24390676|REF_RGD_ID:401940156
8774319	Comt	catechol-O-methyltransferase	gene	DOID:12401	intermittent explosive disorder	sexual_dimorphism	ISO	RGD:737102	D	RGD:9068941	20240201	RGD		associated with schizophrenia; DNA:polymorphism:cd: p.V158M (human)	PMID:11204347|REF_RGD_ID:401950497
8774319	Comt	catechol-O-methyltransferase	gene	DOID:12583	velocardiofacial syndrome		ISO	RGD:737102	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 22q11.2 deletion syndrome	PMID:25741868
8774319	Comt	catechol-O-methyltransferase	gene	DOID:127	leiomyoma		ISO	RGD:737102	D	RGD:9068941	20200609	RGD		protein:increased expression:myometrium	PMID:16730007|REF_RGD_ID:2289717
8774319	Comt	catechol-O-methyltransferase	gene	DOID:127	leiomyoma	susceptibility	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		associated with Uterine Neoplasms;DNA:polymorphism: :p.V158M	PMID:16443508|REF_RGD_ID:2289780
8774319	Comt	catechol-O-methyltransferase	gene	DOID:12849	autistic disorder		ISO	RGD:737102	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:16917939
8774319	Comt	catechol-O-methyltransferase	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:737102	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:28492532
8774319	Comt	catechol-O-methyltransferase	gene	DOID:13078	eumycotic mycetoma	severity	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds: (rs4680) (human)	PMID:20184498|REF_RGD_ID:8662334
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:737102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:737102	D	RGD:9068941	20240118	RGD		associated with nicotine dependence and alcohol dependence; DNA:SNP:exon 4: 472G>A, p.V158M (rs4680) (human)	PMID:27644662|REF_RGD_ID:401959228
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1380	endometrial cancer		ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:12810635|REF_RGD_ID:2289723
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1380	endometrial cancer	no_association	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.V158M	PMID:15285606|REF_RGD_ID:2289721
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1380	endometrial cancer	susceptibility	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.V158M	PMID:17442187|REF_RGD_ID:2289714
8774319	Comt	catechol-O-methyltransferase	gene	DOID:150	disease of mental health		ISO	RGD:737102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16780746
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1561	cognitive disorder		ISO	RGD:10378	D	RGD:9068941	20220825	MouseDO			
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1561	cognitive disorder		ISO	RGD:737102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17123785
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1561	cognitive disorder	severity	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		associated with Bipolar Disorder;DNA:polymorphism: :p.V158M (human)	PMID:16542182|REF_RGD_ID:8662329
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1561	cognitive disorder	susceptibility	ISO	RGD:737102	D	RGD:9068941	20240125	RGD		associated with amphetamine abuse; DNA:SNP:cd: p.V158M (human)	PMID:31301644|REF_RGD_ID:401940139
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1574	alcohol use disorder		ISO	RGD:1313623	D	RGD:9068941	20240113	RGD		DNA:polymorphism: :rs4680(human)	PMID:32889058|REF_RGD_ID:401940151
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1574	alcohol use disorder		ISO	RGD:737102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10395222
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1574	alcohol use disorder	disease_progression	ISO	RGD:737102	D	RGD:9068941	20231228	RGD		DNA:polymorphism::	PMID:10395222|REF_RGD_ID:401940114
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1612	breast cancer		ISO	RGD:737102	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:17507616|REF_RGD_ID:2289712
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.V158M	PMID:17429315|REF_RGD_ID:2289715
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1612	breast cancer	no_association	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.V158M	PMID:15285606|REF_RGD_ID:2289721
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.V158M	PMID:17562079|REF_RGD_ID:2289710
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:737102	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizure	
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1849	cannabis dependence		ISO	RGD:737102	D	RGD:9068941	20240125	RGD		DNA:hypermethylation:promoter	PMID:24902721|REF_RGD_ID:401940112
8774319	Comt	catechol-O-methyltransferase	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:737102	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:25741868
8774319	Comt	catechol-O-methyltransferase	gene	DOID:2394	ovarian cancer		ISO	RGD:737102	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ovary	PMID:15010821|REF_RGD_ID:2289722
8774319	Comt	catechol-O-methyltransferase	gene	DOID:2394	ovarian cancer	no_association	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:p.V158M	PMID:11142424|REF_RGD_ID:2289725
8774319	Comt	catechol-O-methyltransferase	gene	DOID:2394	ovarian cancer	susceptibility	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.V158M	PMID:12036914|REF_RGD_ID:2289724
8774319	Comt	catechol-O-methyltransferase	gene	DOID:2559	opiate dependence	severity	ISO	RGD:737102	D	RGD:9068941	20240125	RGD		DNA:SNP:cd: p.V158M (rs4680) (human)	PMID:27061230|REF_RGD_ID:401959589
8774319	Comt	catechol-O-methyltransferase	gene	DOID:2559	opiate dependence	treatment	ISO	RGD:737102	D	RGD:9068941	20240201	RGD			PMID:32407152|REF_RGD_ID:401959744
8774319	Comt	catechol-O-methyltransferase	gene	DOID:2560	morphine dependence	susceptibility	ISO	RGD:737102	D	RGD:9068941	20240104	RGD		DNA:SNP:cd: (rs4680) p.V158M (human)	PMID:30211780|REF_RGD_ID:401940137
8774319	Comt	catechol-O-methyltransferase	gene	DOID:3312	bipolar disorder		ISO	RGD:737102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11772685
8774319	Comt	catechol-O-methyltransferase	gene	DOID:3312	bipolar disorder		ISO	RGD:737102	D	RGD:9068941	20231230	RGD		DNA:promoter:Hypomethylation	PMID:16984965|REF_RGD_ID:401940146
8774319	Comt	catechol-O-methyltransferase	gene	DOID:4450	renal cell carcinoma	susceptibility	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon	PMID:17220335|REF_RGD_ID:2289716
8774319	Comt	catechol-O-methyltransferase	gene	DOID:4676	uremia		ISO	RGD:737102	D	RGD:9068941	20200609	RGD		protein:increased activity:erythrocyte	PMID:7437264|REF_RGD_ID:8662343
8774319	Comt	catechol-O-methyltransferase	gene	DOID:5419	schizophrenia		ISO	RGD:737102	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:10395222|PMID:10459407|PMID:11171904|PMID:11381111|PMID:11502905|PMID:11772685|PMID:11925305|PMID:12192614|PMID:12359690|PMID:12402217|PMID:12436243|PMID:12595695|PMID:12611827|PMID:12716966|PMID:12842306|PMID:14966473|PMID:15169701|PMID:15457404|PMID:15457497|PMID:15645182|PMID:15652872|PMID:15821730|PMID:15824744|PMID:15935994|PMID:16043133|PMID:16130008|PMID:16135635|PMID:16275815|PMID:16513880|PMID:16542388|PMID:17504906|PMID:21280081|PMID:21681106|PMID:25741868|PMID:30208311|PMID:7304673|PMID:7585135|PMID:8807664|PMID:8886163|PMID:8941353|PMID:9110364
8774319	Comt	catechol-O-methyltransferase	gene	DOID:5419	schizophrenia		ISO	RGD:737102	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Schizophrenia | ClinVar Annotator: match by term: Schizophrenia, susceptibility to	PMID:10395222|PMID:10459407|PMID:11171904|PMID:11381111|PMID:11502905|PMID:11772685|PMID:11925305|PMID:12192614|PMID:12359690|PMID:12402217|PMID:12436243|PMID:12595695|PMID:12611827|PMID:12716966|PMID:12842306|PMID:14966473|PMID:15169701|PMID:15457404|PMID:15457497|PMID:15645182|PMID:15652872|PMID:15821730|PMID:15824744|PMID:15935994|PMID:16043133|PMID:16130008|PMID:16135635|PMID:16275815|PMID:16513880|PMID:16542388|PMID:17504906|PMID:21280081|PMID:25741868|PMID:7304673|PMID:7585135|PMID:8807664|PMID:8886163|PMID:8941353|PMID:9110364
8774319	Comt	catechol-O-methyltransferase	gene	DOID:5419	schizophrenia	susceptibility	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds: (rs6267) (human)	PMID:19881467|REF_RGD_ID:8662335
8774319	Comt	catechol-O-methyltransferase	gene	DOID:5419	schizophrenia	treatment	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:rs4680(p.V158M)(human)	PMID:26255563|REF_RGD_ID:11353078
8774319	Comt	catechol-O-methyltransferase	gene	DOID:594	panic disorder		ISO	RGD:737102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COMT-related condition | ClinVar Annotator: match by term: Panic disorder 1	PMID:25741868|PMID:28492532
8774319	Comt	catechol-O-methyltransferase	gene	DOID:631	fibromyalgia	severity	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.V158M(human)	PMID:24762091|REF_RGD_ID:13450944
8774319	Comt	catechol-O-methyltransferase	gene	DOID:670	amphetamine abuse		ISO	RGD:737102	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274053
8774319	Comt	catechol-O-methyltransferase	gene	DOID:670	amphetamine abuse	susceptibility	ISO	RGD:737102	D	RGD:9068941	20240125	RGD		DNA:SNPs,haplotypes:exon,3'utr: (rs4680, rs165599) (human)	PMID:21934638|REF_RGD_ID:401940147
8774319	Comt	catechol-O-methyltransferase	gene	DOID:670	amphetamine abuse	susceptibility	ISO	RGD:737102	D	RGD:9068941	20240127	RGD		DNA:SNP:cd: p.V158M (human)	PMID:15274053|PMID:17187009|PMID:33544778|REF_RGD_ID:401940124|REF_RGD_ID:401940150|REF_RGD_ID:401959602
8774319	Comt	catechol-O-methyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15341023
8774319	Comt	catechol-O-methyltransferase	gene	DOID:8893	psoriasis		ISO	RGD:737102	D	RGD:9068941	20200609	RGD			PMID:24001377|REF_RGD_ID:8662328
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:737102	D	RGD:9068941	20200609	RGD		associated with breast cancer;DNA:missense mutation:cds:p.V108/158M (human)	PMID:10755383|REF_RGD_ID:8662330
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:10378	D	RGD:9068941	20200609	RGD		protein:increased expression:mammary gland, cytoplasm	PMID:6337293|REF_RGD_ID:2289734
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:737102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18424824
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9000439	Schizophrenia Spectrum and Other Psychotic Disorders		ISO	RGD:737102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28195063
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9000641	Pain		ISO	RGD:2379	D	RGD:9068941	20200609	RGD			PMID:17084978|REF_RGD_ID:2289747
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9000641	Pain		ISO	RGD:737102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20561508
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9000641	Pain	severity	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		associated with Multiple Sclerosis;DNA:polymorphism:cds:rs4680(p.V158M)(human)	PMID:24290452|REF_RGD_ID:13450948
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9000998	Brain Injuries		ISO	RGD:2379	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus	PMID:17240060|REF_RGD_ID:2289740
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9002211	Hyperalgesia		ISO	RGD:10378	D	RGD:9068941	20200609	RGD			PMID:20726980|REF_RGD_ID:8662326
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9002211	Hyperalgesia		ISO	RGD:737102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28195063
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:737102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23667712
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:10378	D	RGD:9068941	20200609	RGD			PMID:25242632|REF_RGD_ID:13450949
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9002801	Recurrence	susceptibility	ISO	RGD:737102	D	RGD:9068941	20240125	RGD		associated with heroin dependence; DNA:SNP:exon 4: (rs4680) p.V158M (human)	PMID:26345603|REF_RGD_ID:11534843
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9003392	Neck Pain	severity	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		associated with breast cancer;DNA:missense mutation:cds:p.V158M (human)	PMID:21898113|REF_RGD_ID:8662332
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9003805	Catalepsy		ISO	RGD:2379	D	RGD:9068941	20200609	RGD			PMID:12711835|REF_RGD_ID:2289788
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9003871	Venous Thrombosis	susceptibility	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :324G>A	PMID:18064318|REF_RGD_ID:2289709
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9004890	Paranoid Disorders	susceptibility	ISO	RGD:737102	D	RGD:9068941	20231228	RGD		associated with cocaine dependence; DNA:SNPs,haplotypes:multiple	PMID:21656904|REF_RGD_ID:401940117
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9005228	Musculoskeletal Pain		ISO	RGD:737102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25218601
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:737102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18704099
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2379	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:12010186|REF_RGD_ID:2289789
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9006281	Temporomandibular Joint Disorders		ISO	RGD:737102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25218601
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9006617	Fatigue	severity	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		associated with breast cancer;DNA:missense mutation:cds:p.V158M (human)	PMID:21898113|REF_RGD_ID:8662332
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9007370	Child Behavior Disorders	susceptibility	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		associated with Fetal Growth Retardation; DNA:polymorphism:cds:rs4680(p.V158M)(human)	PMID:22070166|REF_RGD_ID:13451124
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:2379	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:21138988|REF_RGD_ID:7241599
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9008023	Memory Disorders		ISO	RGD:737102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28195063
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9008359	Acute Pain	susceptibility	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		associated with Anemia, Sickle Cell;DNA:polymorphism:cds:p.V158M(human)	PMID:25102390|REF_RGD_ID:13450943
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9008394	Drug-Induced Dyskinesia		ISO	RGD:2379	D	RGD:9068941	20200609	RGD			PMID:16437585|REF_RGD_ID:2289781
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15455371|PMID:16077979|PMID:9407957
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9505	cannabis abuse		ISO	RGD:737102	D	RGD:9068941	20240201	RGD		associated with alcohol use disorder; DNA:hypermethylation:promoter	PMID:33781176|REF_RGD_ID:401959741
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9505	cannabis abuse	onset	ISO	RGD:737102	D	RGD:9068941	20240127	RGD		DNA:SNP:cd: p.V158M (human)	PMID:30790675|REF_RGD_ID:401959592
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9505	cannabis abuse	susceptibility	ISO	RGD:737102	D	RGD:9068941	20240125	RGD		DNA:SNP:cd: p.V158M (human)	PMID:19259017|REF_RGD_ID:401959590
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9828	neonatal abstinence syndrome	ameliorates	ISO	RGD:737102	D	RGD:9068941	20240314	RGD		associated with maternal opioid abuse;DNA:SNP:intron (rs740603) (human)	PMID:26233486|REF_RGD_ID:11079504
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9828	neonatal abstinence syndrome	treatment	ISO	RGD:737102	D	RGD:9068941	20240111	RGD		DNA:SNPs:cds: (rs4680,rs750603) c.158A>G (human)	PMID:27983768|REF_RGD_ID:401950496
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9828	neonatal abstinence syndrome	treatment	ISO	RGD:737102	D	RGD:9068941	20240118	RGD		DNA:SNP: 158A>G (rs4680) (human)	PMID:23632726|REF_RGD_ID:11097592
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9970	obesity	susceptibility	ISO	RGD:737102	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon	PMID:17497175|REF_RGD_ID:2289713
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9974	drug dependence	susceptibility	ISO	RGD:737102	D	RGD:9068941	20231228	RGD		associated with Trauma and Stressor Related Disorders;DNA:polymorphism:exon: p.V158M (human)	PMID:31150143|REF_RGD_ID:401940120
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9975	cocaine dependence	susceptibility	ISO	RGD:737102	D	RGD:9068941	20240118	RGD		DNA:SNPs,haplotypes:exon: p.V158M (rs4680, rs737865, rs165688) (human)	PMID:18704099|REF_RGD_ID:401959302
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9976	heroin dependence		ISO	RGD:737102	D	RGD:9068941	20231228	RGD		DNA:SNP:exon 5: (rs769224) (human)	PMID:33577997|REF_RGD_ID:401940110
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9976	heroin dependence	onset	ISO	RGD:737102	D	RGD:9068941	20231230	RGD		DNA:SNP:exon 1: (rs737866) (Human)	PMID:21857968|REF_RGD_ID:401940140
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9976	heroin dependence	onset	ISO	RGD:737102	D	RGD:9068941	20240118	RGD		DNA:SNP:: (rs737866) (Human)	PMID:23155402|REF_RGD_ID:401959234
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9976	heroin dependence	severity	ISO	RGD:737102	D	RGD:9068941	20240127	RGD		DNA:SNP:cd: p.V158M (human)	PMID:33544778|REF_RGD_ID:401959602
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9976	heroin dependence	susceptibility	ISO	RGD:737102	D	RGD:9068941	20231228	RGD		DNA:SNP:exon 4: (rs4680) p.V158M (human)	PMID:20728009|REF_RGD_ID:401940113
8774319	Comt	catechol-O-methyltransferase	gene	DOID:9976	heroin dependence	susceptibility	ISO	RGD:737102	D	RGD:9068941	20240104	RGD		DNA:SNP:-287A>G (human)	PMID:12476424|REF_RGD_ID:401940154
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:0050741	alcohol dependence	treatment	ISO	RGD:727889	D	RGD:9068941	20250529	RGD			PMID:25400560|REF_RGD_ID:616363034
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:0050744	anaplastic large cell lymphoma		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17261581
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1352761	D	RGD:9068941	20200609	RGD		protein:increased expression:monocyte	PMID:17013605|REF_RGD_ID:2298862
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1352761	D	RGD:9068941	20220826	RGD		protein:increased expression:mouth (human)	PMID:34111459|REF_RGD_ID:153344573
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:0060058	lymphoma		ISO	RGD:1352761	D	RGD:9068941	20200609	RGD		DNA:point mutation:codon 494:Glu-Asp	PMID:9047386|REF_RGD_ID:2298891
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:1352761	D	RGD:9068941	20200609	RGD		DNA:amplification	PMID:17375183|REF_RGD_ID:2298754
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:0060180	colitis		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23810507
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:0060180	colitis		ISO	RGD:727889	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus	PMID:18623154|REF_RGD_ID:2298776
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:0060322	mastoiditis		ISO	RGD:1352761	D	RGD:9068941	20200609	RGD		protein:increased expression:mucosa of middle ear,skin of ear canal:	PMID:24690988|REF_RGD_ID:8552995
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	ISO	RGD:727889	D	RGD:9068941	20240801	RGD			PMID:29399060|PMID:31116255|REF_RGD_ID:407424599|REF_RGD_ID:407424600
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:1551095	D	RGD:9068941	20240525	RGD		protein:increased phosphorylation:liver	PMID:35338490|REF_RGD_ID:405849393
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:0080855	Parkinsonism		ISO	RGD:727889	D	RGD:9068941	20200609	RGD			PMID:18534259|REF_RGD_ID:2302392
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:0080998	acute necrotizing pancreatitis		ISO	RGD:727889	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:18241655|REF_RGD_ID:2298789
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:0081292	traumatic brain injury		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25668593|PMID:28642177
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1352761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:10754	otitis media		ISO	RGD:1352761	D	RGD:9068941	20200609	RGD		protein:increased expression:mucosa of middle ear,skin of ear canal:	PMID:24690988|REF_RGD_ID:8552995
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:10763	hypertension		ISO	RGD:1352761	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:19018797|PMID:27659729|PMID:32147540
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:10763	hypertension		ISO	RGD:727889	D	RGD:9068941	20200609	RGD			PMID:16840655|REF_RGD_ID:2298761
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:10964	cholesteatoma of middle ear		ISO	RGD:1352761	D	RGD:9068941	20200609	RGD		protein:increased expression:mucosa of middle ear,skin of ear canal:	PMID:24690988|REF_RGD_ID:8552995
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1551095	D	RGD:9068941	20200609	RGD			PMID:18089718|REF_RGD_ID:2293094
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1352761	D	RGD:9068941	20200609	RGD			PMID:18188593|REF_RGD_ID:2298753
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:11132	prostatic hypertrophy		ISO	RGD:1352761	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:25546515|REF_RGD_ID:11566048
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:1115	sarcoma		ISO	RGD:1352761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:11383	cryptorchidism		ISO	RGD:1551095	D	RGD:9068941	20200609	RGD		protein:increased expression:testis	PMID:22777528|REF_RGD_ID:11567213
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:11713	diabetic angiopathy		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25381014
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026087
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:12236	primary biliary cholangitis	disease_progression	ISO	RGD:1352761	D	RGD:9068941	20240801	RGD		protein:increased expression:liver (human)	PMID:21275501|REF_RGD_ID:407420272
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:13141	uveitis		ISO	RGD:727889	D	RGD:9068941	20200609	RGD		protein:increased expression:uvea	PMID:18087711|REF_RGD_ID:2298858
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:13580	cholestasis		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20626112
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28789951|PMID:30026087
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23274713
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:1591	renovascular hypertension		ISO	RGD:727889	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus, kidney	PMID:18032469|REF_RGD_ID:2298840
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:1679	cystitis		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22099998
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:1793	pancreatic cancer		ISO	RGD:1352761	D	RGD:9068941	20200609	RGD			PMID:9918209|REF_RGD_ID:2298892
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:1824	status epilepticus		ISO	RGD:727889	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus, hippocampus	PMID:17727632|REF_RGD_ID:2298852
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:1826	epilepsy	treatment	ISO	RGD:727889	D	RGD:9068941	20200609	RGD			PMID:28303499|REF_RGD_ID:13524859
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:1909	melanoma		ISO	RGD:1352761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:2316	brain ischemia		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18628779
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:2349	arteriosclerosis		ISO	RGD:727889	D	RGD:9068941	20200609	RGD		protein:increased expression:aorta	PMID:18637019|REF_RGD_ID:2298774
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:2526	prostate adenocarcinoma	disease_progression	ISO	RGD:1352761	D	RGD:9068941	20200609	RGD			PMID:15073126|REF_RGD_ID:13506768
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:2526	prostate adenocarcinoma	disease_progression	ISO	RGD:1551095	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:15712212|REF_RGD_ID:2298768
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:28	endocrine system disease		ISO	RGD:1352761	D	RGD:9068941	20241205	CTD		CTD Direct Evidence: marker/mechanism	PMID:38043716
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:2876	laryngeal squamous cell carcinoma	severity	ISO	RGD:1352761	D	RGD:9068941	20211001	RGD		associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human)	PMID:19513509|REF_RGD_ID:150429781
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26861016
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:299	adenocarcinoma		ISO	RGD:1352761	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:34973135
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1551095	D	RGD:9068941	20221117	RGD		mRNA, protein:increased expression:lung (mouse)	PMID:34331613|REF_RGD_ID:155663371
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1352761	D	RGD:9068941	20240208	CTD		CTD Direct Evidence: marker/mechanism	PMID:34686948
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1352761	D	RGD:9068941	20200609	RGD			PMID:16287968|REF_RGD_ID:2298765
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18089796
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1352761	D	RGD:9068941	20200609	RGD			PMID:17290398|REF_RGD_ID:2298755
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1352761	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:12663495|REF_RGD_ID:2298771
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1352761	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:5082	liver cirrhosis		ISO	RGD:727889	D	RGD:9068941	20240125	RGD		associated with chronic intermittent hypoxia; mRNA, protein:increased expression:liver (rat)	PMID:32626927|REF_RGD_ID:401959337
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:5199	ureteral obstruction		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28318631
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1551095	D	RGD:9068941	20230713	RGD		associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse)	PMID:30172777|REF_RGD_ID:329955443
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:6432	pulmonary hypertension		ISO	RGD:727889	D	RGD:9068941	20200609	RGD		protein:altered localization:nucleus, blood vessel endothelial cell, lung	PMID:17934115|REF_RGD_ID:2298843
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:670	amphetamine abuse		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19689456
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:769	neuroblastoma		ISO	RGD:1352761	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34626302
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:783	end stage renal disease		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19420110
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:783	end stage renal disease		ISO	RGD:727889	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:18077597|REF_RGD_ID:2298859
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:8577	ulcerative colitis		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15955209
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:1352761	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:16278667|REF_RGD_ID:2298767
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:1551095	D	RGD:9068941	20200609	RGD			PMID:15570007|REF_RGD_ID:2298769
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:8778	Crohn's disease		ISO	RGD:1352761	D	RGD:9068941	20221103	CTD		CTD Direct Evidence: marker/mechanism	PMID:36038634
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:8991	cervix uteri carcinoma in situ	disease_progression	ISO	RGD:1352761	D	RGD:9068941	20200609	RGD		protein:altered localization, increased expression:nucleus, uterine cervix	PMID:16850495|REF_RGD_ID:2298759
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:727889	D	RGD:9068941	20200609	RGD			PMID:17918744|REF_RGD_ID:2298849
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1352761	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms;protein:altered localization:nucleus, prostate gland	PMID:17020979|REF_RGD_ID:2298757
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:727889	D	RGD:9068941	20220623	RGD			PMID:29572553|REF_RGD_ID:152995414
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9000113	Pneumococcal Meningitis		ISO	RGD:727889	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, nucleus	PMID:25443778|REF_RGD_ID:9831197
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1352761	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:34973135
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9000288	Chronic Intermittent Hypoxia		ISO	RGD:727889	D	RGD:9068941	20230817	RGD		mRNA:increased expression:kidney cortex (rat)	PMID:32416216|REF_RGD_ID:401793731
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9000288	Chronic Intermittent Hypoxia		ISO	RGD:727889	D	RGD:9068941	20240125	RGD		protein:increased expression:liver (rat)	PMID:32626927|REF_RGD_ID:401959337
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27157545
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9000918	Disease Progression		ISO	RGD:1352761	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:34626302|PMID:34973135
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9000998	Brain Injuries		ISO	RGD:727889	D	RGD:9068941	20200609	RGD		protein:increased expression:ileum	PMID:18288455|REF_RGD_ID:2298787
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9001161	Autoinflammatory Disease, Familial, Behcet-Like-3		ISO	RGD:1352761	D	RGD:7240710	20190717	OMIM			
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9001161	Autoinflammatory Disease, Familial, Behcet-Like-3		ISO	RGD:1352761	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AUTOINFLAMMATORY DISEASE, FAMILIAL, BEHCET-LIKE-3 | ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic | ClinVar Annotator: match by term: RELA-related condition	PMID:25741868|PMID:28492532|PMID:28600438|PMID:32969189
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26806094
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:1352761	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation, altered location:nucleus, endothelial cell, lung	PMID:17950083|REF_RGD_ID:2298841
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:727889	D	RGD:9068941	20200609	RGD			PMID:17950078|REF_RGD_ID:2298842
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:727889	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:nucleus, liver	PMID:18469645|REF_RGD_ID:2298781
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9001749	Chemotherapy-Related Cognitive Impairment	treatment	ISO	RGD:727889	D	RGD:9068941	20250206	RGD			PMID:36708885|REF_RGD_ID:597621662
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:727889	D	RGD:9068941	20250424	RGD		associated with alcoholic hepatitis	PMID:22019745|REF_RGD_ID:598147059
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17900838
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20932960
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9002304	Prostatic Neoplasms	disease_progression	ISO	RGD:1352761	D	RGD:9068941	20200609	RGD		protein:altered localization, increased expression:nucleus, prostate gland	PMID:16278667|REF_RGD_ID:2298767
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:727889	D	RGD:9068941	20200609	RGD		protein:increased activity:striatum	PMID:17250675|REF_RGD_ID:2302394
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:1352761	D	RGD:9068941	20200609	RGD			PMID:18314621|REF_RGD_ID:2298752
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20715105
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1352761	D	RGD:9068941	20200609	RGD		protein:altered localization, increased expression:nucleus, uterine cervix	PMID:16850495|REF_RGD_ID:2298759
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1352761	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:17098279|REF_RGD_ID:2298756
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9003936	Cardiomegaly		ISO	RGD:727889	D	RGD:9068941	20200609	RGD			PMID:15728586|REF_RGD_ID:1580656
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20302854|PMID:23743330
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:727889	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus, liver	PMID:18621400|REF_RGD_ID:2298777
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9004250	Hepatic Insufficiency		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026087
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:727889	D	RGD:9068941	20200709	RGD			PMID:31828147|REF_RGD_ID:35316072
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23069812
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9004484	Sepsis		ISO	RGD:727889	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus, lung	PMID:17626913|REF_RGD_ID:2298853
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19896475|PMID:29501572
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:727889	D	RGD:9068941	20200609	RGD		associated with Hypertension;protein:increased expression:ventricle myocardium, heart left ventricle	PMID:18543397|REF_RGD_ID:2298779
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9004649	Heat Stroke		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24039931
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1551095	D	RGD:9068941	20200609	RGD		protein:decreased expression:peritoneal macrophage	PMID:16288051|REF_RGD_ID:2298764
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9005236	Drug Eruptions		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31150805
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026087
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1352761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138235
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:727889	D	RGD:9068941	20200609	RGD			PMID:18633731|REF_RGD_ID:2298775
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:727889	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus, skeletal muscle, liver	PMID:18500427|REF_RGD_ID:2298780
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9006302	Binge Drinking	treatment	ISO	RGD:727889	D	RGD:9068941	20250403	RGD			PMID:29260441|REF_RGD_ID:598099561
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9007491	Childhood Schizophrenia		ISO	RGD:1352761	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Childhood Onset Schizophrenia	PMID:26508570
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20932960
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23069812|PMID:29501572
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1551095	D	RGD:9068941	20200609	RGD			PMID:18198644|REF_RGD_ID:2298857
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9007692	Insulin Resistance		ISO	RGD:727889	D	RGD:9068941	20200609	RGD		protein:altered localization:soleus	PMID:18073321|REF_RGD_ID:2298860
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9007755	Intestinal Reperfusion Injury	treatment	ISO	RGD:727889	D	RGD:9068941	20230824	RGD			PMID:22079846|REF_RGD_ID:401794136
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:727889	D	RGD:9068941	20200609	RGD		protein:altered localization:nucleus	PMID:18636044|REF_RGD_ID:2298773
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:727889	D	RGD:9068941	20220923	RGD			PMID:31583047|REF_RGD_ID:155230831
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9008394	Drug-Induced Dyskinesia		ISO	RGD:727889	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus, brain	PMID:18590723|REF_RGD_ID:2298778
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20154269
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1352761	D	RGD:9068941	20200609	RGD			PMID:16322341|PMID:16728586|REF_RGD_ID:2298762|REF_RGD_ID:2298763
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9206	Barrett's esophagus		ISO	RGD:1352761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15387324
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9452	steatotic liver disease		ISO	RGD:727889	D	RGD:9068941	20200609	RGD			PMID:21643627|REF_RGD_ID:5135028
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9588	encephalitis		ISO	RGD:727889	D	RGD:9068941	20200609	RGD			PMID:16006567|REF_RGD_ID:5147676
8774326	Rela	RELA proto-oncogene, NF-kB subunit	gene	DOID:9970	obesity		ISO	RGD:1352761	D	RGD:9068941	20200609	RGD			PMID:18356846|REF_RGD_ID:2298856
8774344	Prep	prolyl endopeptidase	gene	DOID:10914	amnestic disorder		ISO	RGD:732518	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8691432
8774344	Prep	prolyl endopeptidase	gene	DOID:1596	depressive disorder		ISO	RGD:620841	D	RGD:9068941	20211224	RGD		protein:altered activity:frontal cortex, striatum, hypothalamus (rat)	PMID:17415460|REF_RGD_ID:1626457
8774344	Prep	prolyl endopeptidase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8774344	Prep	prolyl endopeptidase	gene	DOID:4362	cervical cancer		ISO	RGD:732518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8774344	Prep	prolyl endopeptidase	gene	DOID:4543	retrograde amnesia		ISO	RGD:732518	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18318186
8774344	Prep	prolyl endopeptidase	gene	DOID:5041	esophageal cancer		ISO	RGD:732518	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8774344	Prep	prolyl endopeptidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8774344	Prep	prolyl endopeptidase	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:732518	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8774344	Prep	prolyl endopeptidase	gene	DOID:9000918	Disease Progression		ISO	RGD:732518	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8774344	Prep	prolyl endopeptidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8774344	Prep	prolyl endopeptidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8774344	Prep	prolyl endopeptidase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8774363	Iftap	intraflagellar transport associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8774363	Iftap	intraflagellar transport associated protein	gene	DOID:0080600	COVID-19		ISO	RGD:1603277	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8774363	Iftap	intraflagellar transport associated protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8774363	Iftap	intraflagellar transport associated protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8774363	Iftap	intraflagellar transport associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1603277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8774363	Iftap	intraflagellar transport associated protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1603277	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8774363	Iftap	intraflagellar transport associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8774363	Iftap	intraflagellar transport associated protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8774363	Iftap	intraflagellar transport associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8774383	Gmpr2	guanosine monophosphate reductase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8774383	Gmpr2	guanosine monophosphate reductase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8774383	Gmpr2	guanosine monophosphate reductase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8774383	Gmpr2	guanosine monophosphate reductase 2	gene	DOID:1115	sarcoma		ISO	RGD:1343245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8774383	Gmpr2	guanosine monophosphate reductase 2	gene	DOID:1324	lung cancer		ISO	RGD:1343245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8774383	Gmpr2	guanosine monophosphate reductase 2	gene	DOID:1909	melanoma		ISO	RGD:1343245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8774383	Gmpr2	guanosine monophosphate reductase 2	gene	DOID:299	adenocarcinoma		ISO	RGD:1343245	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
8774383	Gmpr2	guanosine monophosphate reductase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343245	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8774383	Gmpr2	guanosine monophosphate reductase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8774383	Gmpr2	guanosine monophosphate reductase 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1343245	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
8774383	Gmpr2	guanosine monophosphate reductase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8774383	Gmpr2	guanosine monophosphate reductase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8774383	Gmpr2	guanosine monophosphate reductase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8774383	Gmpr2	guanosine monophosphate reductase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1343245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8774400	Limk2	LIM domain kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733238	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8774400	Limk2	LIM domain kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8774400	Limk2	LIM domain kinase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8774400	Limk2	LIM domain kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8774400	Limk2	LIM domain kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8774400	Limk2	LIM domain kinase 2	gene	DOID:3070	high grade glioma		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8774400	Limk2	LIM domain kinase 2	gene	DOID:3275	thymoma		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8774400	Limk2	LIM domain kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8774400	Limk2	LIM domain kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:733238	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8774400	Limk2	LIM domain kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8774400	Limk2	LIM domain kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8774400	Limk2	LIM domain kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8774400	Limk2	LIM domain kinase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:733238	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8774400	Limk2	LIM domain kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8774400	Limk2	LIM domain kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8774400	Limk2	LIM domain kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8774439	Siah1	siah E3 ubiquitin protein ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8774439	Siah1	siah E3 ubiquitin protein ligase 1	gene	DOID:630	genetic disease		ISO	RGD:1351073	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8774439	Siah1	siah E3 ubiquitin protein ligase 1	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:620449	D	RGD:9068941	20200609	RGD			PMID:27256506|REF_RGD_ID:13792677
8774439	Siah1	siah E3 ubiquitin protein ligase 1	gene	DOID:9002138	Spinal Cord Reperfusion Injury	treatment	ISO	RGD:620449	D	RGD:9068941	20200609	RGD			PMID:30195603|REF_RGD_ID:13792615
8774439	Siah1	siah E3 ubiquitin protein ligase 1	gene	DOID:9006459	BURATTI-HAREL SYNDROME		ISO	RGD:1351073	D	RGD:7240710	20210811	OMIM			
8774439	Siah1	siah E3 ubiquitin protein ligase 1	gene	DOID:9006459	BURATTI-HAREL SYNDROME		ISO	RGD:1351073	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Buratti-Harel syndrome	PMID:25741868
8774454	B4galnt1	beta-1,4-N-acetyl-galactosaminyltransferase 1	gene	DOID:0110777	hereditary spastic paraplegia 26		ISO	RGD:731293	D	RGD:7240710	20180130	OMIM			
8774454	B4galnt1	beta-1,4-N-acetyl-galactosaminyltransferase 1	gene	DOID:0110777	hereditary spastic paraplegia 26		ISO	RGD:731293	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: B4GALNT1-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 26 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE	PMID:23746551|PMID:24103911|PMID:25741868|PMID:28492532|PMID:34983064
8774454	B4galnt1	beta-1,4-N-acetyl-galactosaminyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:731293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8774454	B4galnt1	beta-1,4-N-acetyl-galactosaminyltransferase 1	gene	DOID:1059	intellectual disability		ISO	RGD:731293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:23746551|PMID:25741868|PMID:28492532|PMID:28709807|PMID:29983310|PMID:30521973|PMID:31812852|PMID:32214227
8774454	B4galnt1	beta-1,4-N-acetyl-galactosaminyltransferase 1	gene	DOID:1115	sarcoma		ISO	RGD:731293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8774454	B4galnt1	beta-1,4-N-acetyl-galactosaminyltransferase 1	gene	DOID:11830	myopia		ISO	RGD:731293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
8774454	B4galnt1	beta-1,4-N-acetyl-galactosaminyltransferase 1	gene	DOID:12849	autistic disorder		ISO	RGD:731293	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
8774454	B4galnt1	beta-1,4-N-acetyl-galactosaminyltransferase 1	gene	DOID:1596	depressive disorder		ISO	RGD:731293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
8774454	B4galnt1	beta-1,4-N-acetyl-galactosaminyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:731293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8774454	B4galnt1	beta-1,4-N-acetyl-galactosaminyltransferase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:731293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
8774454	B4galnt1	beta-1,4-N-acetyl-galactosaminyltransferase 1	gene	DOID:3070	high grade glioma		ISO	RGD:731293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8774454	B4galnt1	beta-1,4-N-acetyl-galactosaminyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8774454	B4galnt1	beta-1,4-N-acetyl-galactosaminyltransferase 1	gene	DOID:607	paraplegia		ISO	RGD:731293	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:16199547|PMID:17576681|PMID:23746551|PMID:24103911|PMID:24283893|PMID:25741868|PMID:28492532|PMID:30521973|PMID:34983064|PMID:9536098
8774454	B4galnt1	beta-1,4-N-acetyl-galactosaminyltransferase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8774454	B4galnt1	beta-1,4-N-acetyl-galactosaminyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:731293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8774454	B4galnt1	beta-1,4-N-acetyl-galactosaminyltransferase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:731293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
8774454	B4galnt1	beta-1,4-N-acetyl-galactosaminyltransferase 1	gene	DOID:9005077	Joint Instability		ISO	RGD:731293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8774454	B4galnt1	beta-1,4-N-acetyl-galactosaminyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8774473	Rfx1	regulatory factor X1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8774473	Rfx1	regulatory factor X1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8774473	Rfx1	regulatory factor X1	gene	DOID:1115	sarcoma		ISO	RGD:1315268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8774473	Rfx1	regulatory factor X1	gene	DOID:1324	lung cancer		ISO	RGD:1315268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8774473	Rfx1	regulatory factor X1	gene	DOID:1909	melanoma		ISO	RGD:1315268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8774473	Rfx1	regulatory factor X1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8774473	Rfx1	regulatory factor X1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8774473	Rfx1	regulatory factor X1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8774473	Rfx1	regulatory factor X1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8774501	Fate1	fetal and adult testis expressed 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8774501	Fate1	fetal and adult testis expressed 1	gene	DOID:1115	sarcoma		ISO	RGD:1353364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8774501	Fate1	fetal and adult testis expressed 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8774501	Fate1	fetal and adult testis expressed 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353364	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15580283
8774501	Fate1	fetal and adult testis expressed 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8774501	Fate1	fetal and adult testis expressed 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8774529	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8774529	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8774529	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8774529	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8774529	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8774529	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8774529	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8774529	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8774529	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8774529	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:2301266	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8774529	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8774529	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8774529	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:9256	colorectal cancer		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8774588	CUNH19orf47	chromosome unknown C19orf47 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8774588	CUNH19orf47	chromosome unknown C19orf47 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1605879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8774588	CUNH19orf47	chromosome unknown C19orf47 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1605879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8774588	CUNH19orf47	chromosome unknown C19orf47 homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8774588	CUNH19orf47	chromosome unknown C19orf47 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8774588	CUNH19orf47	chromosome unknown C19orf47 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8774616	P3h3	prolyl 3-hydroxylase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8774616	P3h3	prolyl 3-hydroxylase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8774616	P3h3	prolyl 3-hydroxylase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313881	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8774616	P3h3	prolyl 3-hydroxylase 3	gene	DOID:3275	thymoma		ISO	RGD:1313881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8774616	P3h3	prolyl 3-hydroxylase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8774616	P3h3	prolyl 3-hydroxylase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8774616	P3h3	prolyl 3-hydroxylase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8774616	P3h3	prolyl 3-hydroxylase 3	gene	DOID:8398	osteoarthritis		ISO	RGD:1313881	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8774616	P3h3	prolyl 3-hydroxylase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8774616	P3h3	prolyl 3-hydroxylase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8774641	Exo1	exonuclease 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8774641	Exo1	exonuclease 1	gene	DOID:0080600	COVID-19		ISO	RGD:1319820	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8774641	Exo1	exonuclease 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8774641	Exo1	exonuclease 1	gene	DOID:1324	lung cancer		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8774641	Exo1	exonuclease 1	gene	DOID:1612	breast cancer		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:25741868
8774641	Exo1	exonuclease 1	gene	DOID:1909	melanoma		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
8774641	Exo1	exonuclease 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
8774641	Exo1	exonuclease 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:28492532
8774641	Exo1	exonuclease 1	gene	DOID:3275	thymoma		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8774641	Exo1	exonuclease 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8774641	Exo1	exonuclease 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8774641	Exo1	exonuclease 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
8774641	Exo1	exonuclease 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319820	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8774641	Exo1	exonuclease 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319820	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
8774641	Exo1	exonuclease 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1319820	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
8774641	Exo1	exonuclease 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8774641	Exo1	exonuclease 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8774641	Exo1	exonuclease 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:28492532
8774641	Exo1	exonuclease 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8774641	Exo1	exonuclease 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8774641	Exo1	exonuclease 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1319820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17656264
8774641	Exo1	exonuclease 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25751625
8774641	Exo1	exonuclease 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8774641	Exo1	exonuclease 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
8774641	Exo1	exonuclease 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
8774666	Cryba4	crystallin beta A4	gene	DOID:0110271	cataract 23		ISO	RGD:733543	D	RGD:7240710	20180130	OMIM			
8774666	Cryba4	crystallin beta A4	gene	DOID:0110271	cataract 23		ISO	RGD:733543	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CATARACT 23 | ClinVar Annotator: match by term: CATARACT 23, LAMELLAR | ClinVar Annotator: match by term: Cataract 23 | ClinVar Annotator: match by term: Cataract 23, multiple types	PMID:16199547|PMID:24968223|PMID:25741868|PMID:26694549|PMID:28450710|PMID:28492532|PMID:31555371
8774666	Cryba4	crystallin beta A4	gene	DOID:1324	lung cancer		ISO	RGD:733543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8774666	Cryba4	crystallin beta A4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
8774666	Cryba4	crystallin beta A4	gene	DOID:630	genetic disease		ISO	RGD:733543	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8774666	Cryba4	crystallin beta A4	gene	DOID:83	cataract		ISO	RGD:61962	D	RGD:9068941	20260521	RGD		protein:decreased expression:lens	PMID:10726880|REF_RGD_ID:2303653
8774690	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8774690	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8774690	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8774690	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8774690	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8774690	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8774690	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8774690	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8774690	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313930	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8774690	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8774690	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8774690	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8774690	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8774690	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8774746	Polrmt	RNA polymerase mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8774746	Polrmt	RNA polymerase mitochondrial	gene	DOID:0070428	combined oxidative phosphorylation deficiency 55		ISO	RGD:1312131	D	RGD:7240710	20220223	OMIM			
8774746	Polrmt	RNA polymerase mitochondrial	gene	DOID:0070428	combined oxidative phosphorylation deficiency 55		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 55 | ClinVar Annotator: match by term: POLRMT-related condition	PMID:25741868|PMID:33602924|PMID:38256266|PMID:40583167
8774746	Polrmt	RNA polymerase mitochondrial	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:1312131	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA Depletion Syndrome 4A	PMID:25741868
8774746	Polrmt	RNA polymerase mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8774746	Polrmt	RNA polymerase mitochondrial	gene	DOID:1115	sarcoma		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8774746	Polrmt	RNA polymerase mitochondrial	gene	DOID:1324	lung cancer		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8774746	Polrmt	RNA polymerase mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8774746	Polrmt	RNA polymerase mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8774746	Polrmt	RNA polymerase mitochondrial	gene	DOID:2843	long QT syndrome		ISO	RGD:1312131	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8774746	Polrmt	RNA polymerase mitochondrial	gene	DOID:3070	high grade glioma		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8774746	Polrmt	RNA polymerase mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8774746	Polrmt	RNA polymerase mitochondrial	gene	DOID:5041	esophageal cancer		ISO	RGD:1312131	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8774746	Polrmt	RNA polymerase mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8774746	Polrmt	RNA polymerase mitochondrial	gene	DOID:6039	uveal melanoma		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8774746	Polrmt	RNA polymerase mitochondrial	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8774746	Polrmt	RNA polymerase mitochondrial	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312131	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:33602924
8774746	Polrmt	RNA polymerase mitochondrial	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8774746	Polrmt	RNA polymerase mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8774746	Polrmt	RNA polymerase mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8774746	Polrmt	RNA polymerase mitochondrial	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8774773	Nudcd1	NudC domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8774773	Nudcd1	NudC domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349940	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8774773	Nudcd1	NudC domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8774773	Nudcd1	NudC domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8774773	Nudcd1	NudC domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8774773	Nudcd1	NudC domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8774773	Nudcd1	NudC domain containing 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1349940	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8774773	Nudcd1	NudC domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8774773	Nudcd1	NudC domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8774773	Nudcd1	NudC domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8774773	Nudcd1	NudC domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8774773	Nudcd1	NudC domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8774773	Nudcd1	NudC domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8774773	Nudcd1	NudC domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8774773	Nudcd1	NudC domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8774795	Pawr	pro-apoptotic WT1 regulator	gene	DOID:10652	Alzheimer's disease		ISO	RGD:69120	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:brain:	PMID:9701251|REF_RGD_ID:9835364
8774795	Pawr	pro-apoptotic WT1 regulator	gene	DOID:1470	major depressive disorder		ISO	RGD:69120	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain:	PMID:20067857|REF_RGD_ID:9835359
8774795	Pawr	pro-apoptotic WT1 regulator	gene	DOID:1596	depressive disorder		ISO	RGD:69065	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:striatum	PMID:21596067|REF_RGD_ID:6907449
8774795	Pawr	pro-apoptotic WT1 regulator	gene	DOID:1826	epilepsy		ISO	RGD:69065	D	RGD:9068941	20241102	RGD		protein:increased expression:hippocampus:	PMID:10349840|REF_RGD_ID:9835366
8774795	Pawr	pro-apoptotic WT1 regulator	gene	DOID:224	transient cerebral ischemia		ISO	RGD:69065	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain:	PMID:14705148|REF_RGD_ID:1302269
8774795	Pawr	pro-apoptotic WT1 regulator	gene	DOID:224	transient cerebral ischemia		ISO	RGD:737403	D	RGD:9068941	20200609	RGD		protein:increased expression:cortex,striatum:	PMID:11323519|REF_RGD_ID:9835381
8774795	Pawr	pro-apoptotic WT1 regulator	gene	DOID:299	adenocarcinoma		ISO	RGD:69120	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15877079
8774795	Pawr	pro-apoptotic WT1 regulator	gene	DOID:3070	high grade glioma		ISO	RGD:69120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8774795	Pawr	pro-apoptotic WT1 regulator	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:69065	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:19352052|REF_RGD_ID:9850083
8774795	Pawr	pro-apoptotic WT1 regulator	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:737403	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:16403464|REF_RGD_ID:9835380
8774795	Pawr	pro-apoptotic WT1 regulator	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:737403	D	RGD:9068941	20200609	RGD			PMID:11323519|REF_RGD_ID:9835381
8774795	Pawr	pro-apoptotic WT1 regulator	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:69120	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:cholangiocyte:	PMID:20724592|REF_RGD_ID:9835357
8774795	Pawr	pro-apoptotic WT1 regulator	gene	DOID:9000998	Brain Injuries		ISO	RGD:69065	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:brain:	PMID:11421591|REF_RGD_ID:9835358
8774795	Pawr	pro-apoptotic WT1 regulator	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:69065	D	RGD:9068941	20200609	RGD			PMID:17179954|REF_RGD_ID:9835416
8774795	Pawr	pro-apoptotic WT1 regulator	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:69120	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15877079
8774795	Pawr	pro-apoptotic WT1 regulator	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:69065	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:lung,blood vessel:	PMID:17136598|REF_RGD_ID:9835397
8774795	Pawr	pro-apoptotic WT1 regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8774795	Pawr	pro-apoptotic WT1 regulator	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:69120	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15877079
8774795	Pawr	pro-apoptotic WT1 regulator	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:69065	D	RGD:9068941	20200609	RGD			PMID:18055876|REF_RGD_ID:9835369
8774795	Pawr	pro-apoptotic WT1 regulator	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:69065	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina:	PMID:12836167|REF_RGD_ID:1299297
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:0060249	scoliosis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:0060319	cardiac arrest		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrest	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:0111428	essential tremor 1		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:10283	prostate cancer		ISO	RGD:1323163	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:25741868
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:10283	prostate cancer		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer	PMID:24508459|PMID:25741868|PMID:26344095|PMID:28599312|PMID:28805820|PMID:29996942|PMID:35101336|PMID:36481790
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:10534	stomach cancer		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1323163	D	RGD:9068941	20220729	RGD		protein:decreased expression:stomach (human)	PMID:25204354|REF_RGD_ID:153298922
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:1059	intellectual disability		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:10908	hydrocephalus		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:11162	respiratory failure		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:11396	pulmonary edema		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary edema	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:11476	osteoporosis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:11830	myopia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:12859	choreatic disease		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:23559371|PMID:24508459|PMID:25274033|PMID:25278611|PMID:25766326|PMID:26344095|PMID:27993330|PMID:28448495|PMID:28599312|PMID:28805820|PMID:28805821|PMID:2888|PMID:29996942|PMID:31026449|PMID:31495053|PMID:31776466|PMID:31911863|PMID:34987184|PMID:35101336|PMID:36481790
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:1588	thrombocytopenia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:1596	depressive disorder		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:1826	epilepsy		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:1924	hypogonadism		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:2030	anxiety disorder		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:2300	spondylolysis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spondylolysis	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:2355	anemia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:2712	phimosis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Phimosis	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:2841	asthma		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:3275	thymoma		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:3326	purpura		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Petechiae	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:1323163	D	RGD:9068941	20220729	RGD		mRNA, protein:increased expression:lung (human)	PMID:28927035|REF_RGD_ID:153298923
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1323163	D	RGD:9068941	20220729	RGD		mRNA, protein:increased expression:lung (human)	PMID:31105033|REF_RGD_ID:153298927
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1323163	D	RGD:9068941	20220729	RGD		human gene and cell line in mouse model	PMID:30607139|REF_RGD_ID:153298920
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:4080	tricuspid valve insufficiency		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tricuspid regurgitation	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:543	dystonia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:5805	subvalvular aortic stenosis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Subvalvular aortic stenosis	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:630	genetic disease		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:6364	migraine		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:6682	spondylolisthesis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spondylolisthesis	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1323163	D	RGD:9068941	20220729	RGD		human cells in mouse model	PMID:33209975|REF_RGD_ID:153298924
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1323163	D	RGD:9068941	20220729	RGD		mRNA:decreased expression:liver (human)	PMID:26156804|REF_RGD_ID:11074965
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:687	hepatoblastoma		ISO	RGD:1323163	D	RGD:9068941	20220729	RGD		mRNA:decreased expression:liver (human)	PMID:24912477|REF_RGD_ID:153298925
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9000343	Vision Disorders		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9000641	Pain		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9000727	Syncope		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9001031	Retrognathia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9001256	Nabais Sa-de Vries Syndrome, Type 1		ISO	RGD:1323163	D	RGD:7240710	20200520	OMIM			
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9001256	Nabais Sa-de Vries Syndrome, Type 1		ISO	RGD:1323163	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: NABAIS SA-DE VRIES SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and dysmorphic facies | ClinVar Annotator: match by term: SPOP-related condition | ClinVar Annotator: match by term: SPOP-related neurodevelopmental condition	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9001581	Constipation		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9001722	Dysarthria		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9002079	Paresis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiparesis	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1323163	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22610119|PMID:29295717|PMID:29610475
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9003133	Hypertelorism		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9003760	Myalgia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9004007	Nabais Sa-de Vries Syndrome, Type 2		ISO	RGD:1323163	D	RGD:7240710	20200520	OMIM			
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9004007	Nabais Sa-de Vries Syndrome, Type 2		ISO	RGD:1323163	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NABAIS SA-DE VRIES SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Nabais Sa-de Vries syndrome, type 2 | ClinVar Annotator: match by term: Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies	PMID:25741868|PMID:28492532|PMID:29160310|PMID:32109420|PMID:33057194|PMID:35982159
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9004751	Nausea		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nausea	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9005077	Joint Instability		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9006024	Hypotension		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotension	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9006065	Arthralgia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9006617	Fatigue		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9007573	Flatfoot		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1323163	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23104009
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9007722	Myoclonus		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9007736	Vertigo		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9008023	Memory Disorders		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9008138	Ductal Carcinoma		ISO	RGD:1323163	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29295717
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9008421	Epistaxis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9008675	Dyskinesias		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematochezia	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9220	central sleep apnea		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central sleep apnea syndrome	PMID:25741868|PMID:32109420
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1323163	D	RGD:9068941	20220729	RGD		mRNA:decreased expression:colorectum (human)	PMID:30171794|REF_RGD_ID:153298926
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1323163	D	RGD:9068941	20220729	RGD		DNA:hypermethylation:promoter (human)	PMID:28032859|REF_RGD_ID:153298921
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1323163	D	RGD:9068941	20220729	RGD		protein:decreased expression:colorectum (human)	PMID:26022775|REF_RGD_ID:11056110
8774805	Spop	speckle type BTB/POZ protein	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	PMID:25741868|PMID:32109420
8774829	Adh1c	alcohol dehydrogenase 1C (class I), gamma polypeptide	gene	DOID:0050741	alcohol dependence		ISO	RGD:1344246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Alcohol dependence	PMID:25741868
8774829	Adh1c	alcohol dehydrogenase 1C (class I), gamma polypeptide	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1344246	D	RGD:7240710	20260722	OMIM			
8774829	Adh1c	alcohol dehydrogenase 1C (class I), gamma polypeptide	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8774829	Adh1c	alcohol dehydrogenase 1C (class I), gamma polypeptide	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:1344246	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Parkinson disease, late-onset	PMID:25741868
8774829	Adh1c	alcohol dehydrogenase 1C (class I), gamma polypeptide	gene	DOID:0060892	late onset Parkinson's disease	susceptibility	ISO	RGD:1344246	D	RGD:7240710	20260722	OMIM			
8774829	Adh1c	alcohol dehydrogenase 1C (class I), gamma polypeptide	gene	DOID:10534	stomach cancer		ISO	RGD:1344246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8774829	Adh1c	alcohol dehydrogenase 1C (class I), gamma polypeptide	gene	DOID:1324	lung cancer		ISO	RGD:1344246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8774829	Adh1c	alcohol dehydrogenase 1C (class I), gamma polypeptide	gene	DOID:14330	Parkinson's disease		ISO	RGD:1344246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PARKINSON DISEASE, SUSCEPTIBILITY TO	
8774829	Adh1c	alcohol dehydrogenase 1C (class I), gamma polypeptide	gene	DOID:1574	alcohol use disorder		ISO	RGD:1344246	D	RGD:9068941	20231026	CTD		CTD Direct Evidence: marker/mechanism	PMID:16404797
8774829	Adh1c	alcohol dehydrogenase 1C (class I), gamma polypeptide	gene	DOID:1793	pancreatic cancer		ISO	RGD:1344246	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.R272Q (human)	PMID:19068087|REF_RGD_ID:2325313
8774829	Adh1c	alcohol dehydrogenase 1C (class I), gamma polypeptide	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8774829	Adh1c	alcohol dehydrogenase 1C (class I), gamma polypeptide	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1344246	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16404797
8774829	Adh1c	alcohol dehydrogenase 1C (class I), gamma polypeptide	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:10090	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8774829	Adh1c	alcohol dehydrogenase 1C (class I), gamma polypeptide	gene	DOID:9006302	Binge Drinking		ISO	RGD:2044	D	RGD:9068941	20240328	RGD		mRNA:altered exxpression:liver (rat)	PMID:23413777|REF_RGD_ID:405100715
8774829	Adh1c	alcohol dehydrogenase 1C (class I), gamma polypeptide	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1344246	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15138216
8774829	Adh1c	alcohol dehydrogenase 1C (class I), gamma polypeptide	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8774842	LOC102027002	lanosterol 14-alpha demethylase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8774842	LOC102027002	lanosterol 14-alpha demethylase	gene	DOID:0081289	Antley-Bixler syndrome		ISO	RGD:70832	D	RGD:9068941	20210226	RGD			PMID:21705796|REF_RGD_ID:41412188
8774842	LOC102027002	lanosterol 14-alpha demethylase	gene	DOID:10534	stomach cancer		ISO	RGD:1345262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8774842	LOC102027002	lanosterol 14-alpha demethylase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8774842	LOC102027002	lanosterol 14-alpha demethylase	gene	DOID:1115	sarcoma		ISO	RGD:1345262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8774842	LOC102027002	lanosterol 14-alpha demethylase	gene	DOID:1324	lung cancer		ISO	RGD:1345262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8774842	LOC102027002	lanosterol 14-alpha demethylase	gene	DOID:3275	thymoma		ISO	RGD:1345262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8774842	LOC102027002	lanosterol 14-alpha demethylase	gene	DOID:4362	cervical cancer		ISO	RGD:1345262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8774842	LOC102027002	lanosterol 14-alpha demethylase	gene	DOID:5041	esophageal cancer		ISO	RGD:1345262	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8774842	LOC102027002	lanosterol 14-alpha demethylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8774842	LOC102027002	lanosterol 14-alpha demethylase	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:2481	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:16472823|REF_RGD_ID:13782194
8774842	LOC102027002	lanosterol 14-alpha demethylase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8774842	LOC102027002	lanosterol 14-alpha demethylase	gene	DOID:9351	diabetes mellitus		ISO	RGD:2481	D	RGD:9068941	20210219	RGD		mRNA,protein:decreased expression:liver	PMID:10876162|REF_RGD_ID:41412168
8774859	Rab11fip3	RAB11 family interacting protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8774859	Rab11fip3	RAB11 family interacting protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1353989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8774859	Rab11fip3	RAB11 family interacting protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1353989	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8774859	Rab11fip3	RAB11 family interacting protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1353989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8774859	Rab11fip3	RAB11 family interacting protein 3	gene	DOID:1826	epilepsy		ISO	RGD:1353989	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:24463883|PMID:25558065|PMID:28492532
8774859	Rab11fip3	RAB11 family interacting protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8774859	Rab11fip3	RAB11 family interacting protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8774859	Rab11fip3	RAB11 family interacting protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1353989	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8774859	Rab11fip3	RAB11 family interacting protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8774859	Rab11fip3	RAB11 family interacting protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8774884	Lcn8	lipocalin 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8774884	Lcn8	lipocalin 8	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1343207	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
8774884	Lcn8	lipocalin 8	gene	DOID:10534	stomach cancer		ISO	RGD:1343207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8774884	Lcn8	lipocalin 8	gene	DOID:1115	sarcoma		ISO	RGD:1343207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8774884	Lcn8	lipocalin 8	gene	DOID:2394	ovarian cancer		ISO	RGD:1343207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8774884	Lcn8	lipocalin 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8774884	Lcn8	lipocalin 8	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1343207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8774884	Lcn8	lipocalin 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8774894	Phox2b	paired like homeobox 2B	gene	DOID:0060731	congenital central hypoventilation syndrome		ISO	RGD:1347823	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL | ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital | ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome | ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: ONDINE CURSE, CONGENITAL | ClinVar Annotator: match by term: Ondine-Hirschsprung disease	PMID:12640453|PMID:14566559|PMID:14608649|PMID:15121777|PMID:15334515|PMID:15657873|PMID:16830328|PMID:16888290|PMID:18079495|PMID:19011468|PMID:19058226|PMID:20208042|PMID:20301600|PMID:20456320|PMID:21336852|PMID:22821709|PMID:24033266|PMID:25741868|PMID:26063465|PMID:26580448|PMID:27013732|PMID:28492532|PMID:29543228|PMID:30672101|PMID:30850150|PMID:33958749|PMID:34012823|PMID:34298581|PMID:35360554|PMID:36031316
8774894	Phox2b	paired like homeobox 2B	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1347823	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease	
8774894	Phox2b	paired like homeobox 2B	gene	DOID:2394	ovarian cancer		ISO	RGD:1347823	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
8774894	Phox2b	paired like homeobox 2B	gene	DOID:769	neuroblastoma		ISO	RGD:1347823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuroblastoma	PMID:15516980|PMID:16249188|PMID:17637745|PMID:23873030|PMID:27993330|PMID:28055978|PMID:28915622|PMID:29098737|PMID:30523111|PMID:31927719|PMID:33056981|PMID:33384420
8774894	Phox2b	paired like homeobox 2B	gene	DOID:769	neuroblastoma	exacerbates	ISO	RGD:1347823	D	RGD:9068941	20220408	RGD		human cell line in a mouse model	PMID:26840262|REF_RGD_ID:151667442
8774894	Phox2b	paired like homeobox 2B	gene	DOID:8778	Crohn's disease		ISO	RGD:1347823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17435756
8774894	Phox2b	paired like homeobox 2B	gene	DOID:9000270	Congenital Central Hypoventilation Syndrome 1		ISO	RGD:1347823	D	RGD:7240710	20260701	OMIM			
8774894	Phox2b	paired like homeobox 2B	gene	DOID:9000270	Congenital Central Hypoventilation Syndrome 1		ISO	RGD:1347823	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 1 | ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | ClinVar Annotator: match by term: Haddad syndrome	PMID:15121777|PMID:15657873|PMID:15888479|PMID:16830328|PMID:16888290|PMID:17576681|PMID:17637745|PMID:18079495|PMID:19011468|PMID:19058226|PMID:20208042|PMID:20301600|PMID:24033266|PMID:25156769|PMID:25741868|PMID:26375764|PMID:26580448|PMID:27013732|PMID:28492532|PMID:29098737|PMID:29543228|PMID:29696799|PMID:30092902|PMID:30672101|PMID:31444792|PMID:33958749|PMID:34012823|PMID:9536098
8774894	Phox2b	paired like homeobox 2B	gene	DOID:9001305	Neuroblastoma 2		ISO	RGD:1347823	D	RGD:7240710	20260701	OMIM			
8774894	Phox2b	paired like homeobox 2B	gene	DOID:9001305	Neuroblastoma 2		ISO	RGD:1347823	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Neuroblastoma 2 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2	PMID:12640453|PMID:14566559|PMID:14608649|PMID:15024693|PMID:15121777|PMID:15334515|PMID:15338462|PMID:15657873|PMID:15949893|PMID:16199547|PMID:16249188|PMID:16691592|PMID:16763219|PMID:16830328|PMID:17637745|PMID:17765533|PMID:18079495|PMID:19011468|PMID:19058226|PMID:20208042|PMID:20301600|PMID:23754957|PMID:23873030|PMID:24033266|PMID:24728327|PMID:25156769|PMID:25741868|PMID:26063465|PMID:27013732|PMID:27153395|PMID:28371199|PMID:28492532|PMID:28873162|PMID:29641532|PMID:33958749|PMID:39033378
8774894	Phox2b	paired like homeobox 2B	gene	DOID:9001305	Neuroblastoma 2		ISO	RGD:1347823	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2	PMID:12640453|PMID:15024693|PMID:15657873|PMID:15949893|PMID:16249188|PMID:16830328|PMID:17637745|PMID:18079495|PMID:19011468|PMID:19058226|PMID:20208042|PMID:23754957|PMID:23873030|PMID:24033266|PMID:25741868|PMID:26375764|PMID:26580448|PMID:27013732|PMID:28371199|PMID:28492532|PMID:33958749
8774894	Phox2b	paired like homeobox 2B	gene	DOID:9001466	Hirschsprung Disease Ganglioneuroblastoma		ISO	RGD:1347823	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE	PMID:15338462|PMID:17637745|PMID:20089899|PMID:23754957|PMID:23873030
8774894	Phox2b	paired like homeobox 2B	gene	DOID:9003671	Hypoventilation		ISO	RGD:1347823	D	RGD:9068941	20200609	RGD			PMID:12640453|PMID:14566559|REF_RGD_ID:1599147|REF_RGD_ID:1599148
8774894	Phox2b	paired like homeobox 2B	gene	DOID:9004992	Apnea		ISO	RGD:1347823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apneas	PMID:25741868
8774894	Phox2b	paired like homeobox 2B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1347823	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11953745|PMID:12438263|PMID:12631670|PMID:12640453|PMID:14566559|PMID:14608649|PMID:14709596|PMID:15024693|PMID:15121777|PMID:15334515|PMID:15338462|PMID:15657873|PMID:15949893|PMID:16249188|PMID:16443855|PMID:16691592|PMID:16763219|PMID:16830328|PMID:16888290|PMID:17576681|PMID:17637745|PMID:17765533|PMID:18079495|PMID:18157832|PMID:18292934|PMID:18407552|PMID:18798833|PMID:19011468|PMID:19058226|PMID:19422034|PMID:20089899|PMID:20208042|PMID:20301600|PMID:20456320|PMID:21373876|PMID:23460419|PMID:23622117|PMID:23754957|PMID:23873030|PMID:24033266|PMID:24169930|PMID:24728327|PMID:25156769|PMID:25319843|PMID:25741868|PMID:26063465|PMID:26375764|PMID:26580448|PMID:27013732|PMID:27153395|PMID:28371199|PMID:28422456|PMID:28433712|PMID:28492532|PMID:28873162|PMID:29531718|PMID:29543228|PMID:29641532|PMID:29704303|PMID:30518452|PMID:30672101|PMID:30850150|PMID:32573669|PMID:33958749|PMID:34298581|PMID:9536098
8774894	Phox2b	paired like homeobox 2B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1347823	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11953745|PMID:12438263|PMID:12631670|PMID:12640453|PMID:14566559|PMID:14608649|PMID:14709596|PMID:15024693|PMID:15121777|PMID:15334515|PMID:15338462|PMID:15657873|PMID:15949893|PMID:16199547|PMID:16249188|PMID:16691592|PMID:16763219|PMID:16830328|PMID:16888290|PMID:17576681|PMID:17637745|PMID:17765533|PMID:18079495|PMID:18157832|PMID:18292934|PMID:18407552|PMID:18798833|PMID:19011468|PMID:19058226|PMID:19422034|PMID:20089899|PMID:20208042|PMID:20301600|PMID:20456320|PMID:21373876|PMID:23460419|PMID:23622117|PMID:23754957|PMID:23873030|PMID:24033266|PMID:24169930|PMID:24728327|PMID:25156769|PMID:25319843|PMID:25741868|PMID:26063465|PMID:26375764|PMID:26580448|PMID:27013732|PMID:27153395|PMID:28371199|PMID:28422456|PMID:28433712|PMID:28492532|PMID:28873162|PMID:29531718|PMID:29543228|PMID:29641532|PMID:29704303|PMID:30518452|PMID:30672101|PMID:30850150|PMID:32573669|PMID:33958749|PMID:34012823|PMID:34298581|PMID:9536098
8774894	Phox2b	paired like homeobox 2B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1347823	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11953745|PMID:12438263|PMID:12631670|PMID:12640453|PMID:14566559|PMID:14608649|PMID:14709596|PMID:15024693|PMID:15121777|PMID:15334515|PMID:15338462|PMID:15657873|PMID:15949893|PMID:16199547|PMID:16249188|PMID:16691592|PMID:16763219|PMID:16830328|PMID:16888290|PMID:17576681|PMID:17637745|PMID:17765533|PMID:18079495|PMID:18157832|PMID:18292934|PMID:18407552|PMID:18798833|PMID:19011468|PMID:19058226|PMID:19422034|PMID:20089899|PMID:20208042|PMID:20301600|PMID:20456320|PMID:21373876|PMID:23460419|PMID:23622117|PMID:23754957|PMID:23873030|PMID:24033266|PMID:24169930|PMID:24728327|PMID:25156769|PMID:25319843|PMID:25741868|PMID:26063465|PMID:26375764|PMID:26580448|PMID:27013732|PMID:27153395|PMID:28371199|PMID:28422456|PMID:28433712|PMID:28492532|PMID:28873162|PMID:29543228|PMID:29641532|PMID:29704303|PMID:30518452|PMID:30672101|PMID:30850150|PMID:32573669|PMID:33958749|PMID:34012823|PMID:34298581|PMID:39033378|PMID:9536098
8774894	Phox2b	paired like homeobox 2B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1347823	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:11953745|PMID:12438263|PMID:12631670|PMID:12640453|PMID:14566559|PMID:14608649|PMID:14709596|PMID:15024693|PMID:15121777|PMID:15334515|PMID:15338462|PMID:15657873|PMID:15949893|PMID:16199547|PMID:16249188|PMID:16691592|PMID:16763219|PMID:16830328|PMID:16888290|PMID:17576681|PMID:17637745|PMID:17765533|PMID:18079495|PMID:18157832|PMID:18292934|PMID:18407552|PMID:18798833|PMID:19011468|PMID:19058226|PMID:19422034|PMID:20089899|PMID:20208042|PMID:20301600|PMID:20456320|PMID:21373876|PMID:23460419|PMID:23622117|PMID:23754957|PMID:23873030|PMID:24033266|PMID:24169930|PMID:24728327|PMID:25156769|PMID:25319843|PMID:25741868|PMID:26063465|PMID:26375764|PMID:26580448|PMID:27013732|PMID:27153395|PMID:27854218|PMID:28371199|PMID:28422456|PMID:28433712|PMID:28492532|PMID:28873162|PMID:29543228|PMID:29641532|PMID:29704303|PMID:30518452|PMID:30672101|PMID:30850150|PMID:32573669|PMID:33958749|PMID:33983112|PMID:34012823|PMID:34298581|PMID:39033378|PMID:9536098
8774894	Phox2b	paired like homeobox 2B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1347823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12640453|PMID:14566559|PMID:15121777|PMID:15657873|PMID:16199547|PMID:16830328|PMID:16888290|PMID:17576681|PMID:18079495|PMID:18157832|PMID:18407552|PMID:18798833|PMID:19011468|PMID:19058226|PMID:19422034|PMID:20208042|PMID:21373876|PMID:23460419|PMID:23622117|PMID:24033266|PMID:24169930|PMID:25156769|PMID:25319843|PMID:25741868|PMID:26580448|PMID:27013732|PMID:28492532|PMID:29543228|PMID:29641532|PMID:30518452|PMID:30672101|PMID:33958749|PMID:33983112|PMID:34012823|PMID:35486589|PMID:9536098
8774894	Phox2b	paired like homeobox 2B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1347823	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12640453|PMID:14566559|PMID:15121777|PMID:15657873|PMID:16199547|PMID:16830328|PMID:16888290|PMID:17576681|PMID:18079495|PMID:18157832|PMID:18407552|PMID:18798833|PMID:19011468|PMID:19058226|PMID:19422034|PMID:20208042|PMID:21373876|PMID:23460419|PMID:23622117|PMID:24033266|PMID:24169930|PMID:25156769|PMID:25319843|PMID:25741868|PMID:26580448|PMID:27013732|PMID:28492532|PMID:29543228|PMID:30518452|PMID:30672101|PMID:33958749|PMID:33983112|PMID:34012823|PMID:35486589|PMID:9536098
8774894	Phox2b	paired like homeobox 2B	gene	DOID:9256	colorectal cancer		ISO	RGD:1347823	D	RGD:9068941	20220505	RGD		DNA:hypermethylation: : (human)	PMID:22552777|REF_RGD_ID:152025258
8774905	Tapbp	TAP binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8774905	Tapbp	TAP binding protein	gene	DOID:0060009	MHC class I deficiency		ISO	RGD:735382	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: BLS, TYPE I | ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: MHC class I deficiency	PMID:12149238|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098
8774905	Tapbp	TAP binding protein	gene	DOID:0060009	MHC class I deficiency		ISO	RGD:735382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BLS, TYPE I | ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: MHC class I deficiency	PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098
8774905	Tapbp	TAP binding protein	gene	DOID:1909	melanoma		ISO	RGD:735382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8774905	Tapbp	TAP binding protein	gene	DOID:2394	ovarian cancer		ISO	RGD:735382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8774905	Tapbp	TAP binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8774905	Tapbp	TAP binding protein	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:735382	D	RGD:9068941	20200609	RGD		type I bare lymphocyte syndrome, OMIM:604571	PMID:12149238|REF_RGD_ID:1599296
8774905	Tapbp	TAP binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8774905	Tapbp	TAP binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8774905	Tapbp	TAP binding protein	gene	DOID:9009162	MHC CLASS I DEFICIENCY 3		ISO	RGD:735382	D	RGD:7240710	20251008	OMIM			
8774905	Tapbp	TAP binding protein	gene	DOID:9009162	MHC CLASS I DEFICIENCY 3		ISO	RGD:735382	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MHC class I deficiency 3	PMID:25741868
8774905	Tapbp	TAP binding protein	gene	DOID:9009393	MHC CLASS I DEFICIENCY 1		ISO	RGD:735382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MHC class I deficiency 1	PMID:24033266|PMID:25741868|PMID:28492532
8774905	Tapbp	TAP binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8775019	Lrrc8c	leucine rich repeat containing 8 VRAC subunit C	gene	DOID:1115	sarcoma		ISO	RGD:1604274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8775019	Lrrc8c	leucine rich repeat containing 8 VRAC subunit C	gene	DOID:2377	multiple sclerosis		ISO	RGD:1604274	D	RGD:9068941	20201218	CTD		CTD Direct Evidence: marker/mechanism	PMID:31068361
8775019	Lrrc8c	leucine rich repeat containing 8 VRAC subunit C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8775019	Lrrc8c	leucine rich repeat containing 8 VRAC subunit C	gene	DOID:9009275	TIMES Syndrome		ISO	RGD:1604274	D	RGD:7240710	20250108	OMIM			
8775019	Lrrc8c	leucine rich repeat containing 8 VRAC subunit C	gene	DOID:9009275	TIMES Syndrome		ISO	RGD:1604274	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TIMES SYNDROME	
8775032	Rab3il1	RAB3A interacting protein like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8775032	Rab3il1	RAB3A interacting protein like 1	gene	DOID:1115	sarcoma		ISO	RGD:1354248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8775032	Rab3il1	RAB3A interacting protein like 1	gene	DOID:1909	melanoma		ISO	RGD:1354248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8775032	Rab3il1	RAB3A interacting protein like 1	gene	DOID:3275	thymoma		ISO	RGD:1354248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8775032	Rab3il1	RAB3A interacting protein like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1354248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8775032	Rab3il1	RAB3A interacting protein like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8775032	Rab3il1	RAB3A interacting protein like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775032	Rab3il1	RAB3A interacting protein like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8775056	Calb2	calbindin 2	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:731363	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
8775056	Calb2	calbindin 2	gene	DOID:13141	uveitis		ISO	RGD:731363	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19578012
8775056	Calb2	calbindin 2	gene	DOID:1790	malignant mesothelioma		ISO	RGD:731363	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:22784439
8775056	Calb2	calbindin 2	gene	DOID:9001834	Peritoneal Neoplasms		ISO	RGD:731363	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22784439
8775056	Calb2	calbindin 2	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:731363	D	RGD:9068941	20200609	RGD		protein:decreased expression:endometrium	PMID:18604736|REF_RGD_ID:2315881
8775056	Calb2	calbindin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:0050742	nicotine dependence		ISO	RGD:733809	D	RGD:7240710	20230505	OMIM			
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:0050742	nicotine dependence		ISO	RGD:733809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CIGARETTE HABITUATION, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: SLC6A3-related condition	PMID:25741868|PMID:28492532
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:0050742	nicotine dependence	severity	ISO	RGD:733809	D	RGD:9068941	20240113	RGD		DNA:repeats: :	PMID:25526961|REF_RGD_ID:401959206
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:0050951	hereditary ataxia		ISO	RGD:733809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:0070487	dopamine transporter deficiency syndrome		ISO	RGD:733809	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DOPAMINE TRANSPORTER DEFICIENCY SYNDROME | ClinVar Annotator: match by term: Infantile Parkinsonism-dystonia | ClinVar Annotator: match by term: Infantile dystonia-parkinsonism | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile	PMID:10762168|PMID:10889530|PMID:16103889|PMID:16199547|PMID:16212992|PMID:17576681|PMID:21112253|PMID:22495311|PMID:22514303|PMID:23436987|PMID:23979605|PMID:24613933|PMID:25741436|PMID:25741868|PMID:25747272|PMID:25774383|PMID:28263315|PMID:28492532|PMID:29559554|PMID:9536098
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:0070489	classic dopamine transporter deficiency syndrome		ISO	RGD:733809	D	RGD:7240710	20190424	OMIM			
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:0070489	classic dopamine transporter deficiency syndrome		ISO	RGD:733809	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Classic dopamine transporter deficiency syndrome | ClinVar Annotator: match by term: PARKINSONISM-DYSTONIA, INFANTILE, 1 | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 1	PMID:10762168|PMID:16199547|PMID:19478460|PMID:21112253|PMID:22279524|PMID:25741868|PMID:28492532
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:0080073	spina bifida occulta		ISO	RGD:733809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spina bifida occulta	PMID:16199547|PMID:21112253|PMID:22279524|PMID:24613933|PMID:25741868|PMID:28492532
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:0080832	mild cognitive impairment	susceptibility	ISO	RGD:733809	D	RGD:9068941	20240125	RGD		associated with pathological gambling; DNA:repeats::	PMID:25237117|REF_RGD_ID:401959397
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:0080855	Parkinsonism		ISO	RGD:3715	D	RGD:9068941	20200609	RGD		protein:decreased expression:striatum	PMID:15680936|REF_RGD_ID:1625663
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:733809	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:10534	stomach cancer		ISO	RGD:733809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:10763	hypertension		ISO	RGD:3715	D	RGD:9068941	20200609	RGD		protein:increased expression:caudate-putamen	PMID:9074541|REF_RGD_ID:1625656
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:11315	D	RGD:9068941	20220825	MouseDO		OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003	
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:733809	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12699766|PMID:15059031|PMID:19120712|PMID:22034972
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:733809	D	RGD:9068941	20200609	RGD		with prenatal smoke exposure;DNA:repeat:3' utr: (human)	PMID:12915833|REF_RGD_ID:1358582
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:11119	Gilles de la Tourette syndrome		ISO	RGD:11315	D	RGD:9068941	20220825	MouseDO		OMIM:137580	
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:12700	hyperprolactinemia	treatment	ISO	RGD:3715	D	RGD:9068941	20200609	RGD			PMID:26297122|REF_RGD_ID:13506955
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:1307	dementia		ISO	RGD:733809	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18579413
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:14330	Parkinson's disease		ISO	RGD:733809	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16112329|PMID:16963468|PMID:19590691|PMID:9763484
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:1574	alcohol use disorder		ISO	RGD:733809	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27219321
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:2030	anxiety disorder		ISO	RGD:733809	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19120712
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:2769	tic disorder		ISO	RGD:733809	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19120712
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:3070	high grade glioma		ISO	RGD:3715	D	RGD:9068941	20200609	RGD		protein:decreased expression	PMID:14698456|REF_RGD_ID:1625668
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:3275	thymoma		ISO	RGD:733809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:4428	dyslexia		ISO	RGD:733809	D	RGD:9068941	20230608	CTD		CTD Direct Evidence: marker/mechanism	PMID:35940320
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:535	sleep disorder		ISO	RGD:733809	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24403155
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:5419	schizophrenia		ISO	RGD:733809	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:25741868|PMID:38054408
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:543	dystonia		ISO	RGD:733809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb dystonia	
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:630	genetic disease		ISO	RGD:733809	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10889530|PMID:16103889|PMID:16212992|PMID:25741868|PMID:28492532|PMID:29559554
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:670	amphetamine abuse		ISO	RGD:733809	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12931138
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:863	nervous system disease		ISO	RGD:733809	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12890883
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:8646	substance-induced psychosis		ISO	RGD:733809	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12931138
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:733809	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dysphagia	
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:733809	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27219321
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:9001129	Alcohol Withdrawal Delirium		ISO	RGD:733809	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27219321
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:9002362	Hyperkinesis		ISO	RGD:733809	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18347339|PMID:18588534
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:733809	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12871582|PMID:18206288
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:9004120	Alcohol Withdrawal Seizures		ISO	RGD:733809	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27219321
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:9004657	Weight Gain		ISO	RGD:733809	D	RGD:9068941	20240502	RGD		associated with kidney transplant;DNA:SNP:CDS (rs6347) (human)	PMID:26406335|REF_RGD_ID:405650673
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:9004890	Paranoid Disorders		ISO	RGD:733809	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8825631
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:733809	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:11320258|PMID:11746736|PMID:16537431|PMID:19602552
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:733809	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20875051
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:9008023	Memory Disorders		ISO	RGD:733809	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17992686
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:9970	obesity	no_association	ISO	RGD:733809	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:16674552|REF_RGD_ID:1625653
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:9970	obesity	susceptibility	ISO	RGD:733809	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:12490667|REF_RGD_ID:1625655
8775071	Slc6a3	solute carrier family 6 member 3	gene	DOID:9976	heroin dependence		ISO	RGD:3715	D	RGD:9068941	20200609	RGD			PMID:28598964|REF_RGD_ID:13506959
8775089	Cbarp	CACN subunit beta associated regulatory protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8775089	Cbarp	CACN subunit beta associated regulatory protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1316225	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8775089	Cbarp	CACN subunit beta associated regulatory protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775089	Cbarp	CACN subunit beta associated regulatory protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8775110	Nhsl2	NHS like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8775110	Nhsl2	NHS like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8775110	Nhsl2	NHS like 2	gene	DOID:0111829	X-linked spinocerebellar ataxia 1		ISO	RGD:1603499	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked	PMID:26242992
8775110	Nhsl2	NHS like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775110	Nhsl2	NHS like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0050843	oromandibular dystonia		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oromandibular dystonia	PMID:25741868|PMID:26467025|PMID:28492532
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0050880	Koolen de Vries syndrome		ISO	RGD:1605247	D	RGD:7240710	20180130	OMIM			
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0050880	Koolen de Vries syndrome		ISO	RGD:1605247	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: KANSL1-related condition | ClinVar Annotator: match by term: KOOLEN-DE VRIES SYNDROME | ClinVar Annotator: match by term: Koolen-de Vries syndrome	PMID:16199547|PMID:17576681|PMID:19447831|PMID:20301783|PMID:22544363|PMID:22544367|PMID:24056718|PMID:24088041|PMID:25640679|PMID:25741868|PMID:25741877|PMID:26306646|PMID:26424144|PMID:26467025|PMID:26633545|PMID:28211987|PMID:28440867|PMID:28492532|PMID:29225339|PMID:29655203|PMID:29758562|PMID:30293248|PMID:31267707|PMID:31273778|PMID:31278258|PMID:31440721|PMID:31785789|PMID:32371413|PMID:33004838|PMID:33050294|PMID:33393407|PMID:33442022|PMID:35727364|PMID:36150256|PMID:36475376|PMID:36529818|PMID:38177409|PMID:9536098
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605247	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:20301783|PMID:22544363|PMID:25741868|PMID:26306646|PMID:29225339
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0060260	ptosis		ISO	RGD:1605247	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:26424144
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:1605247	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:25741868
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0070445	early-onset dystonia and/or spastic paraplegia		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia	PMID:25741868|PMID:26467025|PMID:28492532
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1605247	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:24056718|PMID:25741868
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0080798	myeloid leukemia associated with Down Syndrome		ISO	RGD:1605247	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24056718
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0080833	laryngomalacia		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0081337	congenital myopathy		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:24056718|PMID:25741868
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:1605247	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome	PMID:25741868|PMID:26424144|PMID:26467025|PMID:28492532|PMID:32371413|PMID:36529818
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:1605247	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:20301783|PMID:24056718|PMID:25741868|PMID:26424144|PMID:26467025|PMID:28492532|PMID:32371413|PMID:33050294|PMID:36529818
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:10907	microcephaly		ISO	RGD:1605247	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:20301783|PMID:25741868|PMID:33050294
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:11111	hydronephrosis		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:26467025|PMID:28492532
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:11782	astigmatism		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:11830	myopia		ISO	RGD:1605247	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:26424144
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:12849	autistic disorder		ISO	RGD:1605247	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:20301783|PMID:22544363|PMID:25741868|PMID:26306646|PMID:28492532|PMID:29225339
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:24056718|PMID:25741868
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:13994	cleidocranial dysplasia		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Large fontanelles	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:14264	benign neonatal seizures		ISO	RGD:1605247	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal seizure	PMID:25741868|PMID:28492532|PMID:31273778|PMID:36150256
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:1555	urticaria		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urticaria	PMID:24056718|PMID:25741868
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:1826	epilepsy		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24056718|PMID:25741868|PMID:26424144|PMID:28492532|PMID:32371413|PMID:36529818
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:24056718|PMID:25741868
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:26467025|PMID:28492532
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:423	myopathy		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:24056718|PMID:25741868
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605247	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:540	strabismus		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:22544363|PMID:22544367|PMID:25741868|PMID:28492532
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:543	dystonia		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb dystonia	PMID:25741868|PMID:26467025|PMID:28492532
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605247	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:20301783|PMID:22544363|PMID:25741868|PMID:26306646|PMID:29225339
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:26467025|PMID:28492532
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24056718|PMID:25741868|PMID:26306646|PMID:26424144|PMID:26467025|PMID:28492532|PMID:32371413|PMID:36529818
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:767	muscular atrophy		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:24056718|PMID:25741868
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:24056718|PMID:25741868
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1605247	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:26424144|PMID:28492532
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9001581	Constipation		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:24056718|PMID:25741868
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9001626	Chromosome 17 Deletion		ISO	RGD:1605247	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22544363|PMID:22544367
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1605247	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:20301783|PMID:22544363|PMID:24056718|PMID:25741868|PMID:26306646|PMID:29225339
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:22544363|PMID:22544367|PMID:25741868|PMID:28492532
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral hemorrhage	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1605247	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043753
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1605247	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:26424144|PMID:28492532
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:24056718|PMID:25741868
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605247	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605247	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:20301783|PMID:24056718|PMID:25741868|PMID:28492532|PMID:31273778|PMID:36150256
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605247	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:20301783|PMID:22544363|PMID:24056718|PMID:25741868|PMID:26306646|PMID:28492532|PMID:29225339|PMID:31273778|PMID:36150256
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605247	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:20301783|PMID:22544363|PMID:24056718|PMID:25741868|PMID:26306646|PMID:26424144|PMID:28492532|PMID:29225339|PMID:31273778|PMID:36150256
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:24056718|PMID:25741868
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:24056718|PMID:25741868
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9007817	Macroglossia		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605247	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:20301783|PMID:22544363|PMID:22544367|PMID:25741868|PMID:25741877|PMID:28492532
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:22544363|PMID:22544367|PMID:25741868|PMID:28492532
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1605247	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1605247	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22544363|PMID:22544367
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9008811	Tachypnea		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachypnea	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:28492532
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:25741868
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:24056718|PMID:25741868
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9834	hyperopia		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:22544363|PMID:22544367|PMID:25741868|PMID:28492532
8775139	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9841	hypotropia		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotropia	PMID:25741868
8775184	Ccnb2	cyclin B2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8775184	Ccnb2	cyclin B2	gene	DOID:0080600	COVID-19		ISO	RGD:1317801	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8775184	Ccnb2	cyclin B2	gene	DOID:10534	stomach cancer		ISO	RGD:1317801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8775184	Ccnb2	cyclin B2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8775184	Ccnb2	cyclin B2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8775184	Ccnb2	cyclin B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775184	Ccnb2	cyclin B2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8775184	Ccnb2	cyclin B2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317801	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8775184	Ccnb2	cyclin B2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8775197	Ccdc158	coiled-coil domain containing 158	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8775197	Ccdc158	coiled-coil domain containing 158	gene	DOID:10534	stomach cancer		ISO	RGD:1602411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8775197	Ccdc158	coiled-coil domain containing 158	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8775197	Ccdc158	coiled-coil domain containing 158	gene	DOID:3070	high grade glioma		ISO	RGD:1602411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8775197	Ccdc158	coiled-coil domain containing 158	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8775197	Ccdc158	coiled-coil domain containing 158	gene	DOID:4362	cervical cancer		ISO	RGD:1602411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8775197	Ccdc158	coiled-coil domain containing 158	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602411	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8775197	Ccdc158	coiled-coil domain containing 158	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775197	Ccdc158	coiled-coil domain containing 158	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8775197	Ccdc158	coiled-coil domain containing 158	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:1059	intellectual disability		ISO	RGD:1315800	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:10892	hypospadias		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:1115	sarcoma		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:1324	lung cancer		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:1909	melanoma		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:3275	thymoma		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1315800	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:630	genetic disease		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:26365382|PMID:28492532|PMID:35101336
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:9001064	Hao-Fountain Syndrome		ISO	RGD:1315800	D	RGD:7240710	20200722	OMIM			
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:9001064	Hao-Fountain Syndrome		ISO	RGD:1315800	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: HAO-FOUNTAIN SYNDROME | ClinVar Annotator: match by term: Hao-Fountain syndrome | ClinVar Annotator: match by term: Hao-Fountain syndrome due to USP7 mutation | ClinVar Annotator: match by term: USP7-related condition | ClinVar Annotator: match by term: USP7-related neurodevelopmental disorder	PMID:17576681|PMID:25741868|PMID:26365382|PMID:28492532|PMID:30679821|PMID:9536098
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315800	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Venous thrombosis	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315800	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:30679821|PMID:33012787|PMID:36466803|PMID:38221796
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:9004992	Apnea		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8775227	Usp7	ubiquitin specific peptidase 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8775268	Fgf9	fibroblast growth factor 9	gene	DOID:0050794	multiple synostoses syndrome		ISO	RGD:10579	D	RGD:9068941	20220825	MouseDO		OMIM:186500 | OMIM:610017 | OMIM:612961	
8775268	Fgf9	fibroblast growth factor 9	gene	DOID:0081319	multiple synostoses syndrome 3		ISO	RGD:735806	D	RGD:7240710	20180130	OMIM			
8775268	Fgf9	fibroblast growth factor 9	gene	DOID:0081319	multiple synostoses syndrome 3		ISO	RGD:735806	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: FGF9-related condition | ClinVar Annotator: match by term: MULTIPLE SYNOSTOSES SYNDROME 3 | ClinVar Annotator: match by term: Multiple synostoses syndrome 3	PMID:19589401|PMID:25741868|PMID:28492532|PMID:28730625|PMID:36980996
8775268	Fgf9	fibroblast growth factor 9	gene	DOID:1324	lung cancer		ISO	RGD:10579	D	RGD:9068941	20240425	MouseDO		OMIM:211980 | OMIM:608935 | OMIM:612571 | OMIM:612593 | OMIM:614210	
8775268	Fgf9	fibroblast growth factor 9	gene	DOID:1790	malignant mesothelioma		ISO	RGD:735806	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
8775268	Fgf9	fibroblast growth factor 9	gene	DOID:263	kidney cancer	ameliorates	ISO	RGD:735806	D	RGD:9068941	20220526	RGD		human gene in mouse model	PMID:26183774|REF_RGD_ID:152600905
8775268	Fgf9	fibroblast growth factor 9	gene	DOID:299	adenocarcinoma		ISO	RGD:735806	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20464547
8775268	Fgf9	fibroblast growth factor 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735806	D	RGD:9068941	20220520	RGD		mRNA:decreased expression:lung (human)	PMID:28440022|REF_RGD_ID:152180844
8775268	Fgf9	fibroblast growth factor 9	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:735806	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19358281
8775268	Fgf9	fibroblast growth factor 9	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:735806	D	RGD:9068941	20220520	RGD		mRNA:increased expression:lung (human)	PMID:31884893|REF_RGD_ID:152177912
8775268	Fgf9	fibroblast growth factor 9	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:735806	D	RGD:9068941	20220519	RGD		mRNA:increased expression:lung (human)	PMID:24239165|REF_RGD_ID:152177524
8775268	Fgf9	fibroblast growth factor 9	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:735806	D	RGD:9068941	20220519	RGD		protein:increased expression:lung (human)	PMID:19358281|REF_RGD_ID:152177688
8775268	Fgf9	fibroblast growth factor 9	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:735806	D	RGD:9068941	20220520	RGD		mRNA:decreased expression:lung (human)	PMID:19296538|REF_RGD_ID:150429981
8775268	Fgf9	fibroblast growth factor 9	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:735806	D	RGD:9068941	20220526	RGD		protein:increased expression:lung (human)	PMID:20464547|REF_RGD_ID:152975620
8775268	Fgf9	fibroblast growth factor 9	gene	DOID:4769	pleuropulmonary blastoma		ISO	RGD:10579	D	RGD:9068941	20240425	MouseDO			
8775268	Fgf9	fibroblast growth factor 9	gene	DOID:630	genetic disease		ISO	RGD:735806	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8775268	Fgf9	fibroblast growth factor 9	gene	DOID:674	cleft palate		ISO	RGD:735806	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17963255
8775268	Fgf9	fibroblast growth factor 9	gene	DOID:9004207	Testicular Neoplasms		ISO	RGD:735806	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:33172093
8775268	Fgf9	fibroblast growth factor 9	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:735806	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20464547
8775268	Fgf9	fibroblast growth factor 9	gene	DOID:9296	cleft lip		ISO	RGD:735806	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17963255
8775278	Med10	mediator complex subunit 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8775278	Med10	mediator complex subunit 10	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8775278	Med10	mediator complex subunit 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775278	Med10	mediator complex subunit 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8775278	Med10	mediator complex subunit 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8775278	Med10	mediator complex subunit 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8775286	Ergic2	ERGIC and golgi 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8775286	Ergic2	ERGIC and golgi 2	gene	DOID:0070307	craniolenticulosutural dysplasia		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniolenticulosutural dysplasia	PMID:25741868|PMID:30192042|PMID:38103548
8775286	Ergic2	ERGIC and golgi 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8775286	Ergic2	ERGIC and golgi 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8775286	Ergic2	ERGIC and golgi 2	gene	DOID:1115	sarcoma		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8775286	Ergic2	ERGIC and golgi 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8775286	Ergic2	ERGIC and golgi 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8775286	Ergic2	ERGIC and golgi 2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8775286	Ergic2	ERGIC and golgi 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775286	Ergic2	ERGIC and golgi 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8775286	Ergic2	ERGIC and golgi 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8775286	Ergic2	ERGIC and golgi 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8775309	Mylk3	myosin light chain kinase 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1604762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	
8775309	Mylk3	myosin light chain kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8775309	Mylk3	myosin light chain kinase 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1604762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: familial dilated cardiomyopathy	PMID:25741868|PMID:28492532
8775309	Mylk3	myosin light chain kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1604762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8775309	Mylk3	myosin light chain kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775309	Mylk3	myosin light chain kinase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8775309	Mylk3	myosin light chain kinase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8775330	St8sia2	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8775330	St8sia2	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	gene	DOID:12849	autistic disorder		ISO	RGD:1351358	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20663923
8775330	St8sia2	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775340	CUNH9orf152	chromosome unknown C9orf152 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1342470	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8775340	CUNH9orf152	chromosome unknown C9orf152 homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8775340	CUNH9orf152	chromosome unknown C9orf152 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775340	CUNH9orf152	chromosome unknown C9orf152 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8775355	Pcdh19	protocadherin 19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8775355	Pcdh19	protocadherin 19	gene	DOID:0050587	trichotillomania		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trichotillomania	
8775355	Pcdh19	protocadherin 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8775355	Pcdh19	protocadherin 19	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1354208	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8775355	Pcdh19	protocadherin 19	gene	DOID:0060249	scoliosis		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532
8775355	Pcdh19	protocadherin 19	gene	DOID:0060260	ptosis		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
8775355	Pcdh19	protocadherin 19	gene	DOID:0060848	developmental and epileptic encephalopathy 9		ISO	RGD:1354208	D	RGD:7240710	20180130	OMIM			
8775355	Pcdh19	protocadherin 19	gene	DOID:0060848	developmental and epileptic encephalopathy 9		ISO	RGD:1354208	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 9 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 9 | ClinVar Annotator: match by term: JUBERG-HELLMAN SYNDROME	PMID:16199547|PMID:17576681|PMID:18234694|PMID:18414213|PMID:18469813|PMID:19214208|PMID:19752159|PMID:20713952|PMID:21053371|PMID:21480887|PMID:21519002|PMID:21777234|PMID:22050978|PMID:22267240|PMID:22504056|PMID:2267240|PMID:22848613|PMID:22946748|PMID:22949144|PMID:23066759|PMID:23334464|PMID:23708187|PMID:23712037|PMID:23808377|PMID:25204757|PMID:25227595|PMID:25499160|PMID:25640679|PMID:25741868|PMID:25818041|PMID:25891919|PMID:26467025|PMID:26704558|PMID:26765483|PMID:26954813|PMID:26993267|PMID:27029629|PMID:27177984|PMID:27179713|PMID:27527380|PMID:27787195|PMID:27864847|PMID:27884173|PMID:28102150|PMID:28334947|PMID:28462982|PMID:28492532|PMID:28669061|PMID:28690234|PMID:28837158|PMID:29064093|PMID:29180823|PMID:29190809|PMID:29301106|PMID:29358611|PMID:29377098|PMID:29644095|PMID:29655203|PMID:29763708|PMID:29866057|PMID:29933145|PMID:29933521|PMID:30287595|PMID:30451291|PMID:30530412|PMID:30828795|PMID:30945278|PMID:31054490|PMID:31139143|PMID:31175295|PMID:31302675|PMID:31319225|PMID:31440721|PMID:31487502|PMID:31618753|PMID:31665840|PMID:31714027|PMID:31928905|PMID:32146541|PMID:32189863|PMID:32366910|PMID:32425876|PMID:32852734|PMID:33057194|PMID:33131168|PMID:33176815|PMID:33262389|PMID:33767182|PMID:34008892|PMID:34082468|PMID:34331950|PMID:34615535|PMID:35571021|PMID:35723786|PMID:36539902|PMID:36980870|PMID:38259611|PMID:9536098
8775355	Pcdh19	protocadherin 19	gene	DOID:0070616	glycine encephalopathy 1		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glycine encephalopathy 1	PMID:28492532
8775355	Pcdh19	protocadherin 19	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1354208	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1	PMID:28492532
8775355	Pcdh19	protocadherin 19	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1354208	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:25741868
8775355	Pcdh19	protocadherin 19	gene	DOID:1059	intellectual disability		ISO	RGD:1354208	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8775355	Pcdh19	protocadherin 19	gene	DOID:10908	hydrocephalus		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:21053371|PMID:22946748|PMID:25741868|PMID:28492532
8775355	Pcdh19	protocadherin 19	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
8775355	Pcdh19	protocadherin 19	gene	DOID:12849	autistic disorder		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
8775355	Pcdh19	protocadherin 19	gene	DOID:1826	epilepsy		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizure | ClinVar Annotator: match by term: seizures	PMID:19214208|PMID:20713952|PMID:21053371|PMID:21480887|PMID:21519002|PMID:22267240|PMID:2267240|PMID:22848613|PMID:22946748|PMID:22949144|PMID:23334464|PMID:23712037|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27527380|PMID:27787195|PMID:28492532|PMID:28669061|PMID:29064093|PMID:29301106|PMID:29377098|PMID:29655203|PMID:30287595|PMID:31302675|PMID:31487502|PMID:32105270
8775355	Pcdh19	protocadherin 19	gene	DOID:1827	generalized epilepsy		ISO	RGD:1354208	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
8775355	Pcdh19	protocadherin 19	gene	DOID:2034	encephalomalacia		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalomalacia	PMID:25741868|PMID:28492532
8775355	Pcdh19	protocadherin 19	gene	DOID:2234	focal epilepsy		ISO	RGD:1354208	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	
8775355	Pcdh19	protocadherin 19	gene	DOID:3329	benign epilepsy with centrotemporal spikes		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rolandic epilepsy	PMID:19214208|PMID:19752159|PMID:20713952|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29180823|PMID:29358611|PMID:34082468|PMID:36539902
8775355	Pcdh19	protocadherin 19	gene	DOID:4428	dyslexia		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	PMID:25741868|PMID:28492532
8775355	Pcdh19	protocadherin 19	gene	DOID:630	genetic disease		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18234694|PMID:18414213|PMID:18469813|PMID:19214208|PMID:19752159|PMID:20713952|PMID:21053371|PMID:21480887|PMID:21519002|PMID:22267240|PMID:2267240|PMID:22848613|PMID:22946748|PMID:22949144|PMID:23066759|PMID:23334464|PMID:23708187|PMID:23712037|PMID:23808377|PMID:25741868|PMID:26467025|PMID:26765483|PMID:27161523|PMID:27179713|PMID:27527380|PMID:27787195|PMID:28492532|PMID:28669061|PMID:29064093|PMID:29180823|PMID:29301106|PMID:29358611|PMID:29377098|PMID:29866057|PMID:29933145|PMID:30287595|PMID:30530412|PMID:31302675|PMID:34082468|PMID:36539902
8775355	Pcdh19	protocadherin 19	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: generalized tonic-clonic seizures	
8775355	Pcdh19	protocadherin 19	gene	DOID:9000495	Tremor		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Resting tremor	PMID:25741868|PMID:28492532
8775355	Pcdh19	protocadherin 19	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
8775355	Pcdh19	protocadherin 19	gene	DOID:9002079	Paresis		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiparesis	PMID:25741868|PMID:28492532
8775355	Pcdh19	protocadherin 19	gene	DOID:9003133	Hypertelorism		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
8775355	Pcdh19	protocadherin 19	gene	DOID:9003816	Macrocephaly		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8775355	Pcdh19	protocadherin 19	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:21053371|PMID:22946748|PMID:25741868|PMID:28492532|PMID:32852734
8775355	Pcdh19	protocadherin 19	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1354208	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18469813
8775355	Pcdh19	protocadherin 19	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:19214208|PMID:20713952|PMID:21480887|PMID:21519002|PMID:2267240|PMID:22848613|PMID:22946748|PMID:22949144|PMID:23334464|PMID:25741868|PMID:26467025|PMID:27527380|PMID:27787195|PMID:28492532|PMID:29064093|PMID:29301106|PMID:29377098|PMID:30287595|PMID:31302675
8775355	Pcdh19	protocadherin 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8775355	Pcdh19	protocadherin 19	gene	DOID:9007573	Flatfoot		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:21053371|PMID:22946748|PMID:25741868|PMID:28492532
8775355	Pcdh19	protocadherin 19	gene	DOID:9007661	Dwarfism		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
8775355	Pcdh19	protocadherin 19	gene	DOID:9007817	Macroglossia		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	
8775355	Pcdh19	protocadherin 19	gene	DOID:9007956	Febrile Seizures		ISO	RGD:1354208	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Complex febrile seizure	PMID:25741868
8775355	Pcdh19	protocadherin 19	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21053371|PMID:22267240|PMID:22946748|PMID:25741868|PMID:28492532
8775355	Pcdh19	protocadherin 19	gene	DOID:9268	glycine encephalopathy		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-ketotic hyperglycinemia	
8775355	Pcdh19	protocadherin 19	gene	DOID:936	brain disease		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:11736639|PMID:19214208|PMID:20713952|PMID:21053371|PMID:21480887|PMID:21519002|PMID:22267240|PMID:22848613|PMID:22946748|PMID:22949144|PMID:25741868|PMID:28492532|PMID:32105270|PMID:36011376
8775355	Pcdh19	protocadherin 19	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
8775355	Pcdh19	protocadherin 19	gene	DOID:9970	obesity		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:21053371|PMID:22946748|PMID:25741868|PMID:28492532
8775375	Eral1	Era like 12S mitochondrial rRNA chaperone 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8775375	Eral1	Era like 12S mitochondrial rRNA chaperone 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8775375	Eral1	Era like 12S mitochondrial rRNA chaperone 1	gene	DOID:0080256	Perrault syndrome 6		ISO	RGD:1312320	D	RGD:7240710	20190315	OMIM			
8775375	Eral1	Era like 12S mitochondrial rRNA chaperone 1	gene	DOID:0080256	Perrault syndrome 6		ISO	RGD:1312320	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: PERRAULT SYNDROME 6 | ClinVar Annotator: match by term: Perrault syndrome 6	PMID:25741868|PMID:28449065
8775375	Eral1	Era like 12S mitochondrial rRNA chaperone 1	gene	DOID:0080600	COVID-19		ISO	RGD:1312320	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8775375	Eral1	Era like 12S mitochondrial rRNA chaperone 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8775375	Eral1	Era like 12S mitochondrial rRNA chaperone 1	gene	DOID:1324	lung cancer		ISO	RGD:1312320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8775375	Eral1	Era like 12S mitochondrial rRNA chaperone 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8775375	Eral1	Era like 12S mitochondrial rRNA chaperone 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8775375	Eral1	Era like 12S mitochondrial rRNA chaperone 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312320	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8775375	Eral1	Era like 12S mitochondrial rRNA chaperone 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8775375	Eral1	Era like 12S mitochondrial rRNA chaperone 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1312320	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
8775375	Eral1	Era like 12S mitochondrial rRNA chaperone 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8775389	Htr1e	5-hydroxytryptamine receptor 1E	gene	DOID:1324	lung cancer		ISO	RGD:1350220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8775389	Htr1e	5-hydroxytryptamine receptor 1E	gene	DOID:3275	thymoma		ISO	RGD:1350220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8775389	Htr1e	5-hydroxytryptamine receptor 1E	gene	DOID:6039	uveal melanoma		ISO	RGD:1350220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8775394	Adamtsl1	ADAMTS like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8775394	Adamtsl1	ADAMTS like 1	gene	DOID:0080395	orofacial cleft 1		ISO	RGD:1315056	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Orofacial cleft 1	PMID:25741868
8775394	Adamtsl1	ADAMTS like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8775394	Adamtsl1	ADAMTS like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8775394	Adamtsl1	ADAMTS like 1	gene	DOID:1115	sarcoma		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8775394	Adamtsl1	ADAMTS like 1	gene	DOID:1324	lung cancer		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8775394	Adamtsl1	ADAMTS like 1	gene	DOID:1909	melanoma		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8775394	Adamtsl1	ADAMTS like 1	gene	DOID:3275	thymoma		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8775394	Adamtsl1	ADAMTS like 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8775394	Adamtsl1	ADAMTS like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8775394	Adamtsl1	ADAMTS like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315056	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8775394	Adamtsl1	ADAMTS like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775394	Adamtsl1	ADAMTS like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8775394	Adamtsl1	ADAMTS like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8775394	Adamtsl1	ADAMTS like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8775434	Set	SET nuclear proto-oncogene	gene	DOID:0060260	ptosis		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
8775434	Set	SET nuclear proto-oncogene	gene	DOID:0060285	parietal foramina		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parietal foramina	PMID:25741868
8775434	Set	SET nuclear proto-oncogene	gene	DOID:0060305	megalocornea		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megalocornea	PMID:25741868
8775434	Set	SET nuclear proto-oncogene	gene	DOID:0061032	autosomal dominant intellectual developmental disorder 58		ISO	RGD:1316679	D	RGD:7240710	20190315	OMIM			
8775434	Set	SET nuclear proto-oncogene	gene	DOID:0061032	autosomal dominant intellectual developmental disorder 58		ISO	RGD:1316679	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58 | ClinVar Annotator: match by term: SET-related condition	PMID:25356899|PMID:25741868|PMID:29688601
8775434	Set	SET nuclear proto-oncogene	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868
8775434	Set	SET nuclear proto-oncogene	gene	DOID:1059	intellectual disability		ISO	RGD:1316679	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual Disability | ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:11231286|PMID:25356899|PMID:25741868|PMID:27775603|PMID:29688601|PMID:34008892
8775434	Set	SET nuclear proto-oncogene	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8775434	Set	SET nuclear proto-oncogene	gene	DOID:1115	sarcoma		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8775434	Set	SET nuclear proto-oncogene	gene	DOID:11400	pyelonephritis		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pyelonephritis	PMID:25741868
8775434	Set	SET nuclear proto-oncogene	gene	DOID:1143	exotropia		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
8775434	Set	SET nuclear proto-oncogene	gene	DOID:11714	gestational diabetes		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:25741868
8775434	Set	SET nuclear proto-oncogene	gene	DOID:12849	autistic disorder		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
8775434	Set	SET nuclear proto-oncogene	gene	DOID:1588	thrombocytopenia		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: thrombocytopenia	PMID:25741868
8775434	Set	SET nuclear proto-oncogene	gene	DOID:1826	epilepsy		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8775434	Set	SET nuclear proto-oncogene	gene	DOID:1827	generalized epilepsy		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	
8775434	Set	SET nuclear proto-oncogene	gene	DOID:3070	high grade glioma		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8775434	Set	SET nuclear proto-oncogene	gene	DOID:3459	breast carcinoma		ISO	RGD:1316679	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:29688601
8775434	Set	SET nuclear proto-oncogene	gene	DOID:4362	cervical cancer		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8775434	Set	SET nuclear proto-oncogene	gene	DOID:4441	dysgerminoma		ISO	RGD:1316679	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSGERMINOMA	
8775434	Set	SET nuclear proto-oncogene	gene	DOID:5041	esophageal cancer		ISO	RGD:1316679	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8775434	Set	SET nuclear proto-oncogene	gene	DOID:540	strabismus		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8775434	Set	SET nuclear proto-oncogene	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775434	Set	SET nuclear proto-oncogene	gene	DOID:630	genetic disease		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8775434	Set	SET nuclear proto-oncogene	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316679	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEPATOCELLULAR CARCINOMA	
8775434	Set	SET nuclear proto-oncogene	gene	DOID:9001722	Dysarthria		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
8775434	Set	SET nuclear proto-oncogene	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	PMID:25741868
8775434	Set	SET nuclear proto-oncogene	gene	DOID:9003507	Premature Birth		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
8775434	Set	SET nuclear proto-oncogene	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1316679	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24555657
8775434	Set	SET nuclear proto-oncogene	gene	DOID:9005749	Necrosis		ISO	RGD:1316679	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24555657
8775434	Set	SET nuclear proto-oncogene	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8775434	Set	SET nuclear proto-oncogene	gene	DOID:9007573	Flatfoot		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
8775434	Set	SET nuclear proto-oncogene	gene	DOID:9007661	Dwarfism		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8775434	Set	SET nuclear proto-oncogene	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8775434	Set	SET nuclear proto-oncogene	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868
8775434	Set	SET nuclear proto-oncogene	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8775465	Otc	ornithine transcarbamylase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:17565723|PMID:25433810|PMID:28266016|PMID:34906067
8775465	Otc	ornithine transcarbamylase	gene	DOID:0070195	X-linked chronic granulomatous disease		ISO	RGD:732939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked	
8775465	Otc	ornithine transcarbamylase	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:3236	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (rat)	PMID:19101528|REF_RGD_ID:4144059
8775465	Otc	ornithine transcarbamylase	gene	DOID:1059	intellectual disability		ISO	RGD:732939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:26467025|PMID:28492532|PMID:7860066
8775465	Otc	ornithine transcarbamylase	gene	DOID:10907	microcephaly		ISO	RGD:732939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:26467025|PMID:28492532|PMID:7860066
8775465	Otc	ornithine transcarbamylase	gene	DOID:1115	sarcoma		ISO	RGD:732939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8775465	Otc	ornithine transcarbamylase	gene	DOID:12849	autistic disorder		ISO	RGD:732939	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25433810|PMID:25741868|PMID:28492532|PMID:30175132|PMID:33272297|PMID:37146589|PMID:7951259|PMID:9609999
8775465	Otc	ornithine transcarbamylase	gene	DOID:13580	cholestasis		ISO	RGD:3236	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver (rat)	PMID:15916970|REF_RGD_ID:4143230
8775465	Otc	ornithine transcarbamylase	gene	DOID:1561	cognitive disorder		ISO	RGD:732939	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8778603
8775465	Otc	ornithine transcarbamylase	gene	DOID:1826	epilepsy		ISO	RGD:732939	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Sudden unexpected death in epilepsy	PMID:10799432|PMID:25026867|PMID:25433810|PMID:25741868|PMID:25949836|PMID:26467025|PMID:26819360|PMID:28261508|PMID:28492532|PMID:30175132|PMID:31426867|PMID:33272297|PMID:34014557|PMID:37146589|PMID:7860066|PMID:7951259|PMID:9007316|PMID:9028466|PMID:9609999
8775465	Otc	ornithine transcarbamylase	gene	DOID:4362	cervical cancer		ISO	RGD:732939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8775465	Otc	ornithine transcarbamylase	gene	DOID:4724	brain edema		ISO	RGD:732939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cerebral edema	PMID:25741868
8775465	Otc	ornithine transcarbamylase	gene	DOID:480	movement disease		ISO	RGD:732939	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25433810|PMID:25741868|PMID:28492532|PMID:30175132|PMID:33272297|PMID:37146589|PMID:7951259|PMID:9609999
8775465	Otc	ornithine transcarbamylase	gene	DOID:630	genetic disease		ISO	RGD:732939	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10799432|PMID:12083811|PMID:17565723|PMID:18440262|PMID:23821427|PMID:24010702|PMID:25026867|PMID:25433810|PMID:25741868|PMID:25949836|PMID:26819360|PMID:28261508|PMID:28492532|PMID:31131953|PMID:31426867|PMID:32934962|PMID:33272297|PMID:34014557|PMID:8365726|PMID:9007316|PMID:9028466|PMID:9286441|PMID:9852088
8775465	Otc	ornithine transcarbamylase	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:732939	D	RGD:9068941	20220616	RGD		mRNA:altered expression:liver tumor (human)	PMID:30901224|REF_RGD_ID:152995286
8775465	Otc	ornithine transcarbamylase	gene	DOID:9000722	Animal Hepatitis		ISO	RGD:3236	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:8821709|REF_RGD_ID:2303519
8775465	Otc	ornithine transcarbamylase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:26467025|PMID:28492532|PMID:7860066
8775465	Otc	ornithine transcarbamylase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3236	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver (rat)	PMID:7865721|REF_RGD_ID:4144080
8775465	Otc	ornithine transcarbamylase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:732939	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8775465	Otc	ornithine transcarbamylase	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:3236	D	RGD:9068941	20200609	RGD		protein:increased activity:serum (rat)	PMID:17224795|REF_RGD_ID:1643525
8775465	Otc	ornithine transcarbamylase	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:3236	D	RGD:9068941	20200609	RGD		mRNA:altered expression:liver (rat)	PMID:8929856|REF_RGD_ID:4144077
8775465	Otc	ornithine transcarbamylase	gene	DOID:9002802	Acidoses		ISO	RGD:3236	D	RGD:9068941	20200609	RGD		protein:increased activity:liver (rat)	PMID:9472964|REF_RGD_ID:4144071
8775465	Otc	ornithine transcarbamylase	gene	DOID:9002916	Hyperphagia		ISO	RGD:3236	D	RGD:9068941	20251218	RGD		protein:decreased enzyme activity:liver	PMID:4062872|REF_RGD_ID:2300098
8775465	Otc	ornithine transcarbamylase	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:732939	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24161480
8775465	Otc	ornithine transcarbamylase	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3236	D	RGD:9068941	20200609	RGD		protein:increased activity:serum	PMID:1499453|REF_RGD_ID:4144083
8775465	Otc	ornithine transcarbamylase	gene	DOID:9004484	Sepsis		ISO	RGD:3236	D	RGD:9068941	20260709	RGD		mRNA:decreased expression:liver (rat)	PMID:10353541|REF_RGD_ID:4144069
8775465	Otc	ornithine transcarbamylase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3236	D	RGD:9068941	20200609	RGD		protein:decreased activity:small intestine (rat)	PMID:9628242|REF_RGD_ID:4144123
8775465	Otc	ornithine transcarbamylase	gene	DOID:9005930	Endotoxemia		ISO	RGD:732939	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16741687
8775465	Otc	ornithine transcarbamylase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8775465	Otc	ornithine transcarbamylase	gene	DOID:9007661	Dwarfism		ISO	RGD:732939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:26467025|PMID:28492532|PMID:7860066
8775465	Otc	ornithine transcarbamylase	gene	DOID:9007820	Sudden Death		ISO	RGD:732939	D	RGD:9068941	20200609	RGD		death due to neonatal-onset hyperammonaemic encephalopathy	PMID:17262046|REF_RGD_ID:1601074
8775465	Otc	ornithine transcarbamylase	gene	DOID:9007874	Liver Failure		ISO	RGD:3236	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:11779202|REF_RGD_ID:70249
8775465	Otc	ornithine transcarbamylase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732939	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:26467025|PMID:28492532|PMID:7860066
8775465	Otc	ornithine transcarbamylase	gene	DOID:9008972	Hyperammonemia		ISO	RGD:732939	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:10227223|PMID:11286510|PMID:19669271|PMID:20406775|PMID:6825366|PMID:8424807|PMID:8562862|PMID:8581365|PMID:8778603|PMID:9598692
8775465	Otc	ornithine transcarbamylase	gene	DOID:9008972	Hyperammonemia		ISO	RGD:732939	D	RGD:9068941	20260709	RGD		DNA:missense mutations:multiple (human)	PMID:11793468|PMID:8956038|REF_RGD_ID:1600998|REF_RGD_ID:1600999
8775465	Otc	ornithine transcarbamylase	gene	DOID:9271	ornithine carbamoyltransferase deficiency		ISO	RGD:732939	D	RGD:7240710	20180130	OMIM			
8775465	Otc	ornithine transcarbamylase	gene	DOID:9271	ornithine carbamoyltransferase deficiency		ISO	RGD:732939	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ORNITHINE TRANSCARBAMYLASE DEFICIENCY | ClinVar Annotator: match by term: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO | ClinVar Annotator: match by term: OTC deficiency | ClinVar Annotator: match by term: OTC-related condition | ClinVar Annotator: match by term: Ornithine Carbamoyltransferase Deficiency Disease | ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency | ClinVar Annotator: match by term: Ornithine transcarbamylase deficiency	PMID:10070627|PMID:10405441|PMID:10502831|PMID:10799432|PMID:10869432|PMID:10946359|PMID:11102556|PMID:11117428|PMID:11180228|PMID:11260212|PMID:11399226|PMID:11745010|PMID:11768581|PMID:11793468|PMID:11793483|PMID:12083811|PMID:12402347|PMID:12536032|PMID:12579493|PMID:1353535|PMID:1480464|PMID:14976564|PMID:15060014|PMID:15174800|PMID:16199547|PMID:16635166|PMID:1671317|PMID:16786505|PMID:17041896|PMID:17044854|PMID:1721894|PMID:17334707|PMID:17565723|PMID:17576681|PMID:18030415|PMID:18204299|PMID:18440262|PMID:18604903|PMID:18662894|PMID:18662984|PMID:19138872|PMID:19357713|PMID:19893582|PMID:20031247|PMID:2035531|PMID:20817516|PMID:21070677|PMID:21488237|PMID:22099885|PMID:22494545|PMID:22727265|PMID:23209112|PMID:23278509|PMID:23551631|PMID:23568734|PMID:23769969|PMID:23821427|PMID:24006547|PMID:24010702|PMID:2474822|PMID:25026867|PMID:25297582|PMID:25433810|PMID:25741868|PMID:25854183|PMID:25932215|PMID:25949836|PMID:25958381|PMID:25994866|PMID:26059767|PMID:26467025|PMID:26574542|PMID:26753873|PMID:26819360|PMID:27070778|PMID:2741942|PMID:27489649|PMID:28107167|PMID:28261508|PMID:28266016|PMID:28324312|PMID:28492532|PMID:28815739|PMID:28887792|PMID:29123827|PMID:29282796|PMID:30175132|PMID:30285816|PMID:30626930|PMID:31131953|PMID:31426867|PMID:3170748|PMID:32447331|PMID:32793520|PMID:32853555|PMID:32934962|PMID:33190319|PMID:33272297|PMID:33309754|PMID:33489762|PMID:33851512|PMID:34014557|PMID:34014569|PMID:34015158|PMID:34906067|PMID:34958254|PMID:35605046|PMID:35822098|PMID:36211161|PMID:36217298|PMID:36303552|PMID:37146589|PMID:37824171|PMID:38167094|PMID:38802913|PMID:39779333|PMID:40102887|PMID:7474892|PMID:7860066|PMID:7951259|PMID:8019569|PMID:8081398|PMID:8099056|PMID:8260194|PMID:8365726|PMID:8530002|PMID:8566955|PMID:8807340|PMID:8829665|PMID:8830175|PMID:8857803|PMID:8863155|PMID:8956038|PMID:9007316|PMID:9028466|PMID:9048915|PMID:9056557|PMID:9175746|PMID:9266388|PMID:9286441|PMID:9427144|PMID:9452024|PMID:9452049|PMID:9501271|PMID:9536098|PMID:9609999|PMID:9610619|PMID:9686344|PMID:9852088
8775465	Otc	ornithine transcarbamylase	gene	DOID:936	brain disease		ISO	RGD:732939	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8778603
8775465	Otc	ornithine transcarbamylase	gene	DOID:9452	steatotic liver disease		ISO	RGD:3236	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (rat)	PMID:18823438|REF_RGD_ID:4144061
8775465	Otc	ornithine transcarbamylase	gene	DOID:9970	obesity		ISO	RGD:3236	D	RGD:9068941	20200609	RGD		protein:increased activity:liver (rat)	PMID:1330956|REF_RGD_ID:4144087
8775480	Tgm5	transglutaminase 5	gene	DOID:0070520	peeling skin syndrome 1		ISO	RGD:1318367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peeling skin syndrome 1	
8775480	Tgm5	transglutaminase 5	gene	DOID:0070521	peeling skin syndrome 2		ISO	RGD:1318367	D	RGD:7240710	20180130	OMIM			
8775480	Tgm5	transglutaminase 5	gene	DOID:0070521	peeling skin syndrome 2		ISO	RGD:1318367	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acral peeling skin syndrome | ClinVar Annotator: match by term: PEELING SKIN SYNDROME 2 | ClinVar Annotator: match by term: Peeling skin syndrome 2 | ClinVar Annotator: match by term: TGM5-related condition	PMID:20164844|PMID:21469335|PMID:24628291|PMID:25644735|PMID:25741868|PMID:26091878|PMID:26925801|PMID:28492532|PMID:29242947
8775480	Tgm5	transglutaminase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1318367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8775480	Tgm5	transglutaminase 5	gene	DOID:1205	allergic disease		ISO	RGD:1318367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:24628291|PMID:25644735
8775480	Tgm5	transglutaminase 5	gene	DOID:630	genetic disease		ISO	RGD:1318367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:0050922	gastrointestinal carcinoma		ISO	RGD:733273	D	RGD:9068941	20220204	RGD		mRNA:increased expression:stomach (human)	PMID:16849520|REF_RGD_ID:151347663
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:10534	stomach cancer		ISO	RGD:733273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:1107	esophageal carcinoma	exacerbates	ISO	RGD:733273	D	RGD:9068941	20220204	RGD		mRNA:increased expression:esophagus mucosa (human)	PMID:8988034|REF_RGD_ID:151347660
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:1115	sarcoma		ISO	RGD:733273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:1324	lung cancer		ISO	RGD:733273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:299	adenocarcinoma		ISO	RGD:733273	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552421
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:3748	esophagus squamous cell carcinoma	exacerbates	ISO	RGD:733273	D	RGD:9068941	20220204	RGD		mRNA:increased expression:esophagus mucosa (human)	PMID:26465158|REF_RGD_ID:151347661
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:3748	esophagus squamous cell carcinoma	exacerbates	ISO	RGD:733273	D	RGD:9068941	20220204	RGD		protein:increased expression:esophagus (human)	PMID:10797316|REF_RGD_ID:151347654
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:4450	renal cell carcinoma		ISO	RGD:733273	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23797736
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:4914	esophagus adenocarcinoma	exacerbates	ISO	RGD:733273	D	RGD:9068941	20220204	RGD		human cells in a mouse model	PMID:32737994|REF_RGD_ID:151347656
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:4914	esophagus adenocarcinoma	treatment	ISO	RGD:733273	D	RGD:9068941	20220204	RGD			PMID:31809243|REF_RGD_ID:151347659
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:5041	esophageal cancer		ISO	RGD:733273	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:5517	stomach carcinoma		ISO	RGD:733273	D	RGD:9068941	20220204	RGD		mRNA:increased expression:stomach (human)	PMID:9125150|REF_RGD_ID:151347662
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:733273	D	RGD:9068941	20220204	RGD		protein:increased expression:liver (human)	PMID:17634422|REF_RGD_ID:151347655
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:9002189	High Myopia		ISO	RGD:733273	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733273	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:733273	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552421
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:733273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8775499	Grb7	growth factor receptor bound protein 7	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733273	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:17426702|PMID:19075277
8775535	CUNHXorf38	chromosome unknown CXorf38 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8775535	CUNHXorf38	chromosome unknown CXorf38 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8775535	CUNHXorf38	chromosome unknown CXorf38 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1352581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8775535	CUNHXorf38	chromosome unknown CXorf38 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8775535	CUNHXorf38	chromosome unknown CXorf38 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1352581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8775535	CUNHXorf38	chromosome unknown CXorf38 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1352581	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8775535	CUNHXorf38	chromosome unknown CXorf38 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775535	CUNHXorf38	chromosome unknown CXorf38 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8775555	Arhgap42	Rho GTPase activating protein 42	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:3500508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8775555	Arhgap42	Rho GTPase activating protein 42	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:3500508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8775555	Arhgap42	Rho GTPase activating protein 42	gene	DOID:1115	sarcoma		ISO	RGD:3500508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8775555	Arhgap42	Rho GTPase activating protein 42	gene	DOID:234	colon adenocarcinoma		ISO	RGD:3500508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8775555	Arhgap42	Rho GTPase activating protein 42	gene	DOID:4362	cervical cancer		ISO	RGD:3500508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8775555	Arhgap42	Rho GTPase activating protein 42	gene	DOID:5041	esophageal cancer		ISO	RGD:3500508	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8775555	Arhgap42	Rho GTPase activating protein 42	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3500508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775555	Arhgap42	Rho GTPase activating protein 42	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:3500508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8775555	Arhgap42	Rho GTPase activating protein 42	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:3500508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8775596	Slc2a12	solute carrier family 2 member 12	gene	DOID:1909	melanoma		ISO	RGD:1320922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8775596	Slc2a12	solute carrier family 2 member 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8775596	Slc2a12	solute carrier family 2 member 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775596	Slc2a12	solute carrier family 2 member 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8775609	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8775609	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8775609	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:1059	intellectual disability		ISO	RGD:1604561	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8775609	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8775609	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8775609	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8775609	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8775609	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2	
8775609	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8775609	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8775609	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604561	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8775609	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8775609	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775609	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8775609	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8775645	Tmem161a	transmembrane protein 161A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8775645	Tmem161a	transmembrane protein 161A	gene	DOID:0060058	lymphoma		ISO	RGD:1603037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8775645	Tmem161a	transmembrane protein 161A	gene	DOID:1115	sarcoma		ISO	RGD:1603037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8775645	Tmem161a	transmembrane protein 161A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8775645	Tmem161a	transmembrane protein 161A	gene	DOID:4362	cervical cancer		ISO	RGD:1603037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8775645	Tmem161a	transmembrane protein 161A	gene	DOID:5041	esophageal cancer		ISO	RGD:1603037	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8775645	Tmem161a	transmembrane protein 161A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775645	Tmem161a	transmembrane protein 161A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8775645	Tmem161a	transmembrane protein 161A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8775645	Tmem161a	transmembrane protein 161A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8775663	Six2	SIX homeobox 2	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1321897	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
8775663	Six2	SIX homeobox 2	gene	DOID:0081044	frontonasal dysplasia		ISO	RGD:1321897	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18570229
8775663	Six2	SIX homeobox 2	gene	DOID:2154	nephroblastoma		ISO	RGD:1321897	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
8775663	Six2	SIX homeobox 2	gene	DOID:5176	renal Wilms' tumor		ISO	RGD:1321897	D	RGD:9068941	20221103	RGD		human tumor in mouse model	PMID:18467665|REF_RGD_ID:155631277
8775663	Six2	SIX homeobox 2	gene	DOID:557	kidney disease		ISO	RGD:1321897	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18570229
8775663	Six2	SIX homeobox 2	gene	DOID:674	cleft palate		ISO	RGD:1321898	D	RGD:9068941	20221124	MouseDO			
8775663	Six2	SIX homeobox 2	gene	DOID:784	chronic kidney disease	treatment	ISO	RGD:1321897	D	RGD:9068941	20221103	RGD		human cells in rat model	PMID:33298161|REF_RGD_ID:155631310
8775663	Six2	SIX homeobox 2	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1321898	D	RGD:9068941	20221103	RGD		mRNA:altered expression:kidney (mouse)	PMID:18467665|REF_RGD_ID:155631277
8775681	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8775681	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:0112080	nuclear type mitochondrial complex I deficiency 32		ISO	RGD:1319298	D	RGD:7240710	20190315	OMIM			
8775681	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:0112080	nuclear type mitochondrial complex I deficiency 32		ISO	RGD:1319298	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 32 | ClinVar Annotator: match by term: NDUFB8-related condition	PMID:25741868|PMID:28492532|PMID:29429571
8775681	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1319298	D	RGD:9068941	20200609	RGD			PMID:14570706|REF_RGD_ID:1358651
8775681	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:1324	lung cancer		ISO	RGD:1319298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8775681	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:14330	Parkinson's disease		ISO	RGD:1319298	D	RGD:9068941	20200609	RGD			PMID:26605748|REF_RGD_ID:13504667
8775681	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:3021	acute kidney failure		ISO	RGD:1309129	D	RGD:9068941	20200609	RGD			PMID:22160772|REF_RGD_ID:13801199
8775681	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:37	skin disease		ISO	RGD:1319298	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8775681	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8775681	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775681	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:630	genetic disease		ISO	RGD:1319298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8775681	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:9004484	Sepsis		ISO	RGD:1309129	D	RGD:9068941	20200609	RGD			PMID:22952679|REF_RGD_ID:13801198
8775681	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1309129	D	RGD:9068941	20200609	RGD			PMID:24096033|REF_RGD_ID:13801197
8775681	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1319299	D	RGD:9068941	20200609	RGD			PMID:22160772|REF_RGD_ID:13801199
8775681	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1319298	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8775690	Fsd1	fibronectin type III and SPRY domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1345798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8775690	Fsd1	fibronectin type III and SPRY domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8775690	Fsd1	fibronectin type III and SPRY domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775690	Fsd1	fibronectin type III and SPRY domain containing 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1345798	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
8775690	Fsd1	fibronectin type III and SPRY domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8775711	Rpl14	ribosomal protein L14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8775711	Rpl14	ribosomal protein L14	gene	DOID:10534	stomach cancer		ISO	RGD:733020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8775711	Rpl14	ribosomal protein L14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8775711	Rpl14	ribosomal protein L14	gene	DOID:14330	Parkinson's disease		ISO	RGD:733020	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18353766
8775711	Rpl14	ribosomal protein L14	gene	DOID:4450	renal cell carcinoma		ISO	RGD:733020	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23797736
8775711	Rpl14	ribosomal protein L14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775711	Rpl14	ribosomal protein L14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8775711	Rpl14	ribosomal protein L14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8775711	Rpl14	ribosomal protein L14	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:733020	D	RGD:9068941	20200609	RGD			PMID:12051391|REF_RGD_ID:11036103
8775721	Rpp30	ribonuclease P/MRP subunit p30	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8775721	Rpp30	ribonuclease P/MRP subunit p30	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8775721	Rpp30	ribonuclease P/MRP subunit p30	gene	DOID:10534	stomach cancer		ISO	RGD:1321878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8775721	Rpp30	ribonuclease P/MRP subunit p30	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8775721	Rpp30	ribonuclease P/MRP subunit p30	gene	DOID:4362	cervical cancer		ISO	RGD:1321878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8775721	Rpp30	ribonuclease P/MRP subunit p30	gene	DOID:5041	esophageal cancer		ISO	RGD:1321878	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8775721	Rpp30	ribonuclease P/MRP subunit p30	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775721	Rpp30	ribonuclease P/MRP subunit p30	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8775721	Rpp30	ribonuclease P/MRP subunit p30	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8775721	Rpp30	ribonuclease P/MRP subunit p30	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8775721	Rpp30	ribonuclease P/MRP subunit p30	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8775748	Poglut3	protein O-glucosyltransferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8775748	Poglut3	protein O-glucosyltransferase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1347684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8775748	Poglut3	protein O-glucosyltransferase 3	gene	DOID:1115	sarcoma		ISO	RGD:1347684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8775748	Poglut3	protein O-glucosyltransferase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1347684	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8775748	Poglut3	protein O-glucosyltransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775748	Poglut3	protein O-glucosyltransferase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8775760	Ctbp1	C-terminal binding protein 1	gene	DOID:0050460	Wolf-Hirschhorn syndrome		ISO	RGD:732729	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome	PMID:25741868|PMID:28492532
8775760	Ctbp1	C-terminal binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8775760	Ctbp1	C-terminal binding protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:732729	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8775760	Ctbp1	C-terminal binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:732729	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8775760	Ctbp1	C-terminal binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775760	Ctbp1	C-terminal binding protein 1	gene	DOID:630	genetic disease		ISO	RGD:732729	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8775760	Ctbp1	C-terminal binding protein 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:732729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8775760	Ctbp1	C-terminal binding protein 1	gene	DOID:9001308	Wittwer Syndrome		ISO	RGD:732729	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Wittwer syndrome	PMID:25741868|PMID:28492532
8775760	Ctbp1	C-terminal binding protein 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:732729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17028196
8775760	Ctbp1	C-terminal binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8775760	Ctbp1	C-terminal binding protein 1	gene	DOID:9009147	HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME		ISO	RGD:732729	D	RGD:7240710	20190315	OMIM			
8775760	Ctbp1	C-terminal binding protein 1	gene	DOID:9009147	HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME		ISO	RGD:732729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CTBP1-related condition | ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	PMID:25741868|PMID:28492532|PMID:31041561|PMID:38348454
8775797	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:714211097|RGD:714211103|RGD:714211142	D	RGD:9068941	20260730	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8775797	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:713353483|RGD:714211135|RGD:714211187|RGD:714211222	D	RGD:9068941	20260730	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8775797	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:713955933|RGD:713955935	D	RGD:9068941	20260730	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8775797	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:713791146	D	RGD:9068941	20260730	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8775797	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:1115	sarcoma		ISO	RGD:714162109	D	RGD:9068941	20260730	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8775797	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:1324	lung cancer		ISO	RGD:714162116|RGD:714211196	D	RGD:9068941	20260730	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8775797	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:713821627	D	RGD:9068941	20260730	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8775797	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:714160715|RGD:714211150	D	RGD:9068941	20260730	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8775797	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:713791137|RGD:714211207	D	RGD:9068941	20260730	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8775797	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:714174043	D	RGD:9068941	20260730	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8775797	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:714211229	D	RGD:9068941	20260730	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8775797	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:713662111|RGD:713689338|RGD:714211112|RGD:714211129|RGD:714211163|RGD:714211170|RGD:714211179|RGD:714211242	D	RGD:9068941	20260730	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775797	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:714211229	D	RGD:9068941	20260730	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8775797	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:714211083|RGD:714211090	D	RGD:9068941	20260730	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8775797	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:713662096|RGD:714159393|RGD:714159399|RGD:714160686|RGD:714160706|RGD:714162122	D	RGD:9068941	20260730	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8775840	Il4	interleukin 4	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23962110
8775840	Il4	interleukin 4	gene	DOID:0050625	biliary tract benign neoplasm		ISO	RGD:736306	D	RGD:9068941	20200609	RGD			PMID:18798553|REF_RGD_ID:2317263
8775840	Il4	interleukin 4	gene	DOID:0050634	alopecia universalis		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20671941|REF_RGD_ID:7829773
8775840	Il4	interleukin 4	gene	DOID:0050700	cardiomyopathy		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7578376
8775840	Il4	interleukin 4	gene	DOID:0051061	stroke		ISO	RGD:736306	D	RGD:9068941	20230225	RGD		mRNA:increased expression:lymphocyte	PMID:31465536|REF_RGD_ID:156430320
8775840	Il4	interleukin 4	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin	PMID:7963654|REF_RGD_ID:7829823
8775840	Il4	interleukin 4	gene	DOID:0060180	colitis		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24314293
8775840	Il4	interleukin 4	gene	DOID:0060180	colitis	treatment	ISO	RGD:10796	D	RGD:9068941	20200609	RGD			PMID:9389741|REF_RGD_ID:8142400
8775840	Il4	interleukin 4	gene	DOID:0060311	adenoid hypertrophy	treatment	ISO	RGD:2898	D	RGD:9068941	20260409	RGD			PMID:38572767|REF_RGD_ID:645122487
8775840	Il4	interleukin 4	gene	DOID:0060496	respiratory allergy		ISO	RGD:10796	D	RGD:9068941	20200609	RGD		associated with Pneumonia, Pneumocystis carinii	PMID:21343358|REF_RGD_ID:5128506
8775840	Il4	interleukin 4	gene	DOID:0060496	respiratory allergy		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18394133
8775840	Il4	interleukin 4	gene	DOID:0060500	drug allergy		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15867870|PMID:20485159
8775840	Il4	interleukin 4	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21664615
8775840	Il4	interleukin 4	gene	DOID:0080600	COVID-19	severity	ISO	RGD:736306	D	RGD:9068941	20200619	RGD		protein:increased expression:plasma (human)	PMID:31986264|REF_RGD_ID:30309212
8775840	Il4	interleukin 4	gene	DOID:0080745	polymyositis		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skeletal muscle	PMID:19953283|REF_RGD_ID:7794747
8775840	Il4	interleukin 4	gene	DOID:0080822	aspirin-induced respiratory disease	susceptibility	ISO	RGD:736306	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter,5'UTR,intron:multiple	PMID:20921925|REF_RGD_ID:11528633
8775840	Il4	interleukin 4	gene	DOID:1003	pelvic inflammatory disease	treatment	ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:24589604|REF_RGD_ID:10402794
8775840	Il4	interleukin 4	gene	DOID:10113	trypanosomiasis	treatment	ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:24731531|REF_RGD_ID:10402804
8775840	Il4	interleukin 4	gene	DOID:10223	dermatomyositis		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skeletal muscle	PMID:19953283|REF_RGD_ID:7794747
8775840	Il4	interleukin 4	gene	DOID:10316	pneumoconiosis		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21857939
8775840	Il4	interleukin 4	gene	DOID:10459	common cold		ISO	RGD:10796	D	RGD:9068941	20200609	RGD		associated with Asthma;mRNA, protein:increased expression:alveolar macrophage, respiratory system fluid/secretion	PMID:20644177|REF_RGD_ID:4140459
8775840	Il4	interleukin 4	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:promoter	PMID:20213229|REF_RGD_ID:10402788
8775840	Il4	interleukin 4	gene	DOID:10952	nephritis		ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:7967345|REF_RGD_ID:5128564
8775840	Il4	interleukin 4	gene	DOID:11168	anogenital venereal wart		ISO	RGD:736306	D	RGD:9068941	20201105	RGD		protein:increased expression:peripheral blood mononuclear cells (human)	PMID:23754510|REF_RGD_ID:40400714
8775840	Il4	interleukin 4	gene	DOID:11168	anogenital venereal wart	treatment	ISO	RGD:736306	D	RGD:9068941	20200609	RGD			PMID:16114559|REF_RGD_ID:7829774
8775840	Il4	interleukin 4	gene	DOID:1184	nephrotic syndrome	treatment	ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:24812565|REF_RGD_ID:10402803
8775840	Il4	interleukin 4	gene	DOID:1205	allergic disease		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16095146|PMID:21625544
8775840	Il4	interleukin 4	gene	DOID:12236	primary biliary cholangitis	treatment	ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:20442198|REF_RGD_ID:7829828
8775840	Il4	interleukin 4	gene	DOID:12306	vitiligo		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:22342018|REF_RGD_ID:8663475
8775840	Il4	interleukin 4	gene	DOID:12361	Graves' disease		ISO	RGD:736306	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:33132244
8775840	Il4	interleukin 4	gene	DOID:12849	autistic disorder		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16360218
8775840	Il4	interleukin 4	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:10796	D	RGD:9068941	20220825	MouseDO		OMIM:270150	
8775840	Il4	interleukin 4	gene	DOID:13001	carotid stenosis	treatment	ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:20498142|REF_RGD_ID:7829829
8775840	Il4	interleukin 4	gene	DOID:13241	Behcet's disease		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:promoter:-33T>C (human)	PMID:21640045|REF_RGD_ID:5147902
8775840	Il4	interleukin 4	gene	DOID:13375	temporal arteritis		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype: :rs2227284 (human)	PMID:15570643|REF_RGD_ID:7829811
8775840	Il4	interleukin 4	gene	DOID:13378	Kawasaki disease	treatment	ISO	RGD:10796	D	RGD:9068941	20200609	RGD			PMID:22367425|REF_RGD_ID:7829825
8775840	Il4	interleukin 4	gene	DOID:13580	cholestasis		ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:20031157|REF_RGD_ID:2317270
8775840	Il4	interleukin 4	gene	DOID:1459	hypothyroidism	treatment	ISO	RGD:2898	D	RGD:9068941	20200903	RGD			PMID:29896255|REF_RGD_ID:38549578
8775840	Il4	interleukin 4	gene	DOID:1495	cystic echinococcosis	treatment	ISO	RGD:736306	D	RGD:9068941	20200609	RGD			PMID:25726962|REF_RGD_ID:14696685
8775840	Il4	interleukin 4	gene	DOID:1532	pleural disease		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21357438
8775840	Il4	interleukin 4	gene	DOID:1561	cognitive disorder	treatment	ISO	RGD:2898	D	RGD:9068941	20200609	RGD		associated with Radiation Injuries, Experimental	PMID:24713401|REF_RGD_ID:10402800
8775840	Il4	interleukin 4	gene	DOID:1679	cystitis		ISO	RGD:2898	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:18848347|REF_RGD_ID:2317284
8775840	Il4	interleukin 4	gene	DOID:1790	malignant mesothelioma		ISO	RGD:736306	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
8775840	Il4	interleukin 4	gene	DOID:1793	pancreatic cancer		ISO	RGD:10796	D	RGD:9068941	20200609	RGD			PMID:10404069|REF_RGD_ID:2317267
8775840	Il4	interleukin 4	gene	DOID:1793	pancreatic cancer		ISO	RGD:736306	D	RGD:9068941	20200609	RGD			PMID:12097255|REF_RGD_ID:2317265
8775840	Il4	interleukin 4	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:736306	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:19957810|REF_RGD_ID:2317261
8775840	Il4	interleukin 4	gene	DOID:1883	hepatitis C		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:28368861|REF_RGD_ID:14696680
8775840	Il4	interleukin 4	gene	DOID:1883	hepatitis C	susceptibility	ISO	RGD:736306	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-589C>T (human)	PMID:28368861|REF_RGD_ID:14696680
8775840	Il4	interleukin 4	gene	DOID:1926	Gaucher's disease		ISO	RGD:10796	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:21223590|REF_RGD_ID:5128511
8775840	Il4	interleukin 4	gene	DOID:2043	hepatitis B	treatment	ISO	RGD:736306	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs2243250,rs2227284(human)	PMID:28051794|REF_RGD_ID:14696676
8775840	Il4	interleukin 4	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21227906
8775840	Il4	interleukin 4	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:30034292|REF_RGD_ID:14696683
8775840	Il4	interleukin 4	gene	DOID:2048	autoimmune hepatitis	susceptibility	ISO	RGD:736306	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-590C>T,-33T>C (human)	PMID:26735262|REF_RGD_ID:14696677
8775840	Il4	interleukin 4	gene	DOID:2048	autoimmune hepatitis	treatment	ISO	RGD:10796	D	RGD:9068941	20200609	RGD			PMID:30034292|REF_RGD_ID:14696683
8775840	Il4	interleukin 4	gene	DOID:2377	multiple sclerosis	onset	ISO	RGD:736306	D	RGD:9068941	20200806	RGD		DNA:repeat:intron 3:allele B1 (human)	PMID:9184650|REF_RGD_ID:1358745
8775840	Il4	interleukin 4	gene	DOID:2723	dermatitis		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31330126
8775840	Il4	interleukin 4	gene	DOID:2772	irritant dermatitis		ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:19690449|REF_RGD_ID:2317271
8775840	Il4	interleukin 4	gene	DOID:2773	contact dermatitis	treatment	ISO	RGD:10796	D	RGD:9068941	20200609	RGD			PMID:12188032|REF_RGD_ID:7829776
8775840	Il4	interleukin 4	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:2898	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18557728|REF_RGD_ID:2317286
8775840	Il4	interleukin 4	gene	DOID:2841	asthma		ISO	RGD:10796	D	RGD:9068941	20200609	RGD			PMID:21375458|REF_RGD_ID:5128557
8775840	Il4	interleukin 4	gene	DOID:2841	asthma		ISO	RGD:10796	D	RGD:9068941	20260328	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:21354484|PMID:32570040|REF_RGD_ID:5128502|REF_RGD_ID:640480060
8775840	Il4	interleukin 4	gene	DOID:2841	asthma		ISO	RGD:2898	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung, spleen	PMID:21364926|REF_RGD_ID:5128500
8775840	Il4	interleukin 4	gene	DOID:2841	asthma		ISO	RGD:2898	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:18211752|REF_RGD_ID:2317290
8775840	Il4	interleukin 4	gene	DOID:2841	asthma		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		DNA:polymorphism (human)	PMID:21103062|REF_RGD_ID:4889866
8775840	Il4	interleukin 4	gene	DOID:2841	asthma		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		mRNA, protein:increase expression:leukocyte, serum	PMID:24450480|REF_RGD_ID:10402791
8775840	Il4	interleukin 4	gene	DOID:2841	asthma		ISO	RGD:736306	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: marker/mechanism	PMID:18357729|PMID:33861987
8775840	Il4	interleukin 4	gene	DOID:2841	asthma	no_association	ISO	RGD:736306	D	RGD:9068941	20200609	RGD		DNA:SNP: :589C>T (human)	PMID:20524005|REF_RGD_ID:5128560
8775840	Il4	interleukin 4	gene	DOID:2841	asthma	treatment	ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:24946644|REF_RGD_ID:10402799
8775840	Il4	interleukin 4	gene	DOID:2957	pulmonary tuberculosis	severity	ISO	RGD:10796	D	RGD:9068941	20200609	RGD			PMID:20832364|REF_RGD_ID:5128550
8775840	Il4	interleukin 4	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12484431|PMID:21804303
8775840	Il4	interleukin 4	gene	DOID:3070	high grade glioma	treatment	ISO	RGD:10796	D	RGD:9068941	20200609	RGD			PMID:9973213|REF_RGD_ID:8142389
8775840	Il4	interleukin 4	gene	DOID:3310	atopic dermatitis		ISO	RGD:10796	D	RGD:9068941	20240425	MouseDO		OMIM:603165	
8775840	Il4	interleukin 4	gene	DOID:3310	atopic dermatitis		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11886533|PMID:12230500|PMID:18249437
8775840	Il4	interleukin 4	gene	DOID:3310	atopic dermatitis		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-590C>T (human)	PMID:9643293|REF_RGD_ID:7829786
8775840	Il4	interleukin 4	gene	DOID:3310	atopic dermatitis		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:8363440|REF_RGD_ID:7829795
8775840	Il4	interleukin 4	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:2898	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex	PMID:23028794|REF_RGD_ID:7204480
8775840	Il4	interleukin 4	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:736306	D	RGD:9068941	20200609	RGD			PMID:17942922|REF_RGD_ID:2317264
8775840	Il4	interleukin 4	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:10796	D	RGD:9068941	20200609	RGD		associated with Alveolitis, Extrinsic Allergic;mRNA:increased expression:lung	PMID:20861649|REF_RGD_ID:5128548
8775840	Il4	interleukin 4	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:10796	D	RGD:9068941	20200609	RGD		associated with Silicosis;protein:increased expression:respiratory system fluid/secretion	PMID:20490462|REF_RGD_ID:5128555
8775840	Il4	interleukin 4	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12574379|PMID:15322207
8775840	Il4	interleukin 4	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:24269241|REF_RGD_ID:10402793
8775840	Il4	interleukin 4	gene	DOID:417	autoimmune disease		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19077085|PMID:7871386|PMID:8898950
8775840	Il4	interleukin 4	gene	DOID:418	systemic scleroderma		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, splice variant:blood, mononuclear cell, plasma	PMID:10473513|REF_RGD_ID:7829819
8775840	Il4	interleukin 4	gene	DOID:418	systemic scleroderma		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:9034992|REF_RGD_ID:5684371
8775840	Il4	interleukin 4	gene	DOID:4481	allergic rhinitis		ISO	RGD:736306	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36127783
8775840	Il4	interleukin 4	gene	DOID:4481	allergic rhinitis	severity	ISO	RGD:736306	D	RGD:9068941	20260129	RGD		DNA:SNP:intron:rs2227284	PMID:30170133|REF_RGD_ID:631734351
8775840	Il4	interleukin 4	gene	DOID:4481	allergic rhinitis	susceptibility	ISO	RGD:736306	D	RGD:9068941	20260129	RGD		DNA:haplotype: :rs2243250,rs2227284, rs2243290	PMID:30170133|REF_RGD_ID:631734351
8775840	Il4	interleukin 4	gene	DOID:4481	allergic rhinitis	treatment	ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:24620662|REF_RGD_ID:11522769
8775840	Il4	interleukin 4	gene	DOID:4481	allergic rhinitis	treatment	ISO	RGD:736306	D	RGD:9068941	20200609	RGD			PMID:14653048|PMID:8908280|PMID:9893928|REF_RGD_ID:7829796|REF_RGD_ID:7829802|REF_RGD_ID:7829827
8775840	Il4	interleukin 4	gene	DOID:4483	rhinitis		ISO	RGD:10796	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nasal cavity epithelium	PMID:21208219|REF_RGD_ID:5128558
8775840	Il4	interleukin 4	gene	DOID:4483	rhinitis		ISO	RGD:2898	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18826099|REF_RGD_ID:2317285
8775840	Il4	interleukin 4	gene	DOID:4483	rhinitis		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19672097
8775840	Il4	interleukin 4	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:17898087|PMID:9350645|REF_RGD_ID:2307059|REF_RGD_ID:2317673
8775840	Il4	interleukin 4	gene	DOID:552	pneumonia		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8775840	Il4	interleukin 4	gene	DOID:552	pneumonia		ISO	RGD:736306	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8775840	Il4	interleukin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775840	Il4	interleukin 4	gene	DOID:6432	pulmonary hypertension		ISO	RGD:10796	D	RGD:9068941	20200609	RGD			PMID:20889544|REF_RGD_ID:5128515
8775840	Il4	interleukin 4	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:9892610|REF_RGD_ID:8142396
8775840	Il4	interleukin 4	gene	DOID:8536	herpes zoster		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		protein:decreased expression::	PMID:21954956|REF_RGD_ID:8663478
8775840	Il4	interleukin 4	gene	DOID:8893	psoriasis		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19169254
8775840	Il4	interleukin 4	gene	DOID:8893	psoriasis		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:15039646|REF_RGD_ID:7829812
8775840	Il4	interleukin 4	gene	DOID:8893	psoriasis	treatment	ISO	RGD:10796	D	RGD:9068941	20200609	RGD			PMID:19729876|REF_RGD_ID:7829826
8775840	Il4	interleukin 4	gene	DOID:8924	autoimmune thrombocytopenic purpura	disease_progression	ISO	RGD:736306	D	RGD:9068941	20200609	RGD		DNA:repeat:intron	PMID:25051072|REF_RGD_ID:11041894
8775840	Il4	interleukin 4	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:20623539|REF_RGD_ID:5128562
8775840	Il4	interleukin 4	gene	DOID:9000197	Edema	treatment	ISO	RGD:736306	D	RGD:9068941	20200609	RGD		associated with Inflammation	PMID:23972727|REF_RGD_ID:10402790
8775840	Il4	interleukin 4	gene	DOID:9000784	Fibrosis		ISO	RGD:10796	D	RGD:9068941	20200609	RGD			PMID:10486156|REF_RGD_ID:7829775
8775840	Il4	interleukin 4	gene	DOID:9000784	Fibrosis		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24286936
8775840	Il4	interleukin 4	gene	DOID:9000998	Brain Injuries		ISO	RGD:2898	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:24519543|REF_RGD_ID:10402802
8775840	Il4	interleukin 4	gene	DOID:9001011	Bovine Tuberculosis		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17387165
8775840	Il4	interleukin 4	gene	DOID:9001488	Human Influenza		ISO	RGD:10796	D	RGD:9068941	20200609	RGD			PMID:21092162|REF_RGD_ID:5128546
8775840	Il4	interleukin 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:10796	D	RGD:9068941	20201023	RGD		protein:decreased expression:serum (mouse)	PMID:28465467|REF_RGD_ID:39939037
8775840	Il4	interleukin 4	gene	DOID:9001708	Hemorrhagic Shock	treatment	ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:24986445|REF_RGD_ID:10402801
8775840	Il4	interleukin 4	gene	DOID:9001981	Weight Loss		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24314293
8775840	Il4	interleukin 4	gene	DOID:9002019	Granuloma	treatment	ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:24372369|REF_RGD_ID:10402806
8775840	Il4	interleukin 4	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:18182309|REF_RGD_ID:2317291
8775840	Il4	interleukin 4	gene	DOID:9002331	Knee Osteoarthritis	susceptibility	ISO	RGD:736306	D	RGD:9068941	20200609	RGD		DNA:repeat:intron: (rs8179190) (human)	PMID:24406619|REF_RGD_ID:10402787
8775840	Il4	interleukin 4	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:16869003|REF_RGD_ID:2317300
8775840	Il4	interleukin 4	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10444273
8775840	Il4	interleukin 4	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:23140046|REF_RGD_ID:7193038
8775840	Il4	interleukin 4	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:736306	D	RGD:9068941	20200609	RGD			PMID:23972727|REF_RGD_ID:10402790
8775840	Il4	interleukin 4	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:1383385|REF_RGD_ID:8142395
8775840	Il4	interleukin 4	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:10796	D	RGD:9068941	20200609	RGD			PMID:18239607|REF_RGD_ID:7829778
8775840	Il4	interleukin 4	gene	DOID:9002850	Immediate Hypersensitivity		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12755381|PMID:20485159|PMID:22967010
8775840	Il4	interleukin 4	gene	DOID:9002992	Nematode Infections		ISO	RGD:2898	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spleen	PMID:17570971|REF_RGD_ID:2317296
8775840	Il4	interleukin 4	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18410779
8775840	Il4	interleukin 4	gene	DOID:9003507	Premature Birth		ISO	RGD:736306	D	RGD:9068941	20250306	CTD		CTD Direct Evidence: marker/mechanism	PMID:23982189|PMID:26055944
8775840	Il4	interleukin 4	gene	DOID:9003657	Perennial Allergic Rhinitis		ISO	RGD:736306	D	RGD:9068941	20200609	RGD			PMID:21171297|REF_RGD_ID:5128559
8775840	Il4	interleukin 4	gene	DOID:9003657	Perennial Allergic Rhinitis		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:9237816|REF_RGD_ID:7829817
8775840	Il4	interleukin 4	gene	DOID:9003657	Perennial Allergic Rhinitis	treatment	ISO	RGD:736306	D	RGD:9068941	20200609	RGD			PMID:15329007|REF_RGD_ID:7829804
8775840	Il4	interleukin 4	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		associated with factor VIII deficiency;protein:increased expression:serum:	PMID:23591975|REF_RGD_ID:14696686
8775840	Il4	interleukin 4	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:736306	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-590C>T,-33T>C (human)	PMID:22594992|REF_RGD_ID:14696678
8775840	Il4	interleukin 4	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:736306	D	RGD:9068941	20200813	RGD			PMID:25708446|REF_RGD_ID:38456002
8775840	Il4	interleukin 4	gene	DOID:9004203	Chromosome Breakage		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27634759
8775840	Il4	interleukin 4	gene	DOID:9004484	Sepsis		ISO	RGD:736306	D	RGD:9068941	20200806	RGD		protein:increased expression:plasma	PMID:25403265|REF_RGD_ID:38455982
8775840	Il4	interleukin 4	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:24681349|REF_RGD_ID:10402798
8775840	Il4	interleukin 4	gene	DOID:9005040	Hand Osteoarthritis	no_association	ISO	RGD:736306	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter, 5' utr, intron:multiple	PMID:20219689|REF_RGD_ID:10402786
8775840	Il4	interleukin 4	gene	DOID:9005236	Drug Eruptions		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19351467
8775840	Il4	interleukin 4	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:25191525|REF_RGD_ID:10402795
8775840	Il4	interleukin 4	gene	DOID:9005941	Rhinosinusitis	treatment	ISO	RGD:736306	D	RGD:9068941	20200609	RGD		associated with Asthma	PMID:12787306|REF_RGD_ID:7829803
8775840	Il4	interleukin 4	gene	DOID:9006511	Xerostomia		ISO	RGD:10796	D	RGD:9068941	20200609	RGD			PMID:16413168|REF_RGD_ID:7829771
8775840	Il4	interleukin 4	gene	DOID:9006642	Experimental Autoimmune Uveoretinitis	disease_progression	ISO	RGD:2898	D	RGD:9068941	20200609	RGD		mRNA:increased expression:uvea:	PMID:7803357|REF_RGD_ID:8662946
8775840	Il4	interleukin 4	gene	DOID:9006741	Acute Hepatitis		ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:9367542|REF_RGD_ID:8142397
8775840	Il4	interleukin 4	gene	DOID:9006827	Lung Reperfusion Injury	treatment	ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:24365768|REF_RGD_ID:10402797
8775840	Il4	interleukin 4	gene	DOID:9007278	Anaphylaxis		ISO	RGD:10796	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung, intestine, spleen	PMID:24468678|REF_RGD_ID:10402796
8775840	Il4	interleukin 4	gene	DOID:9007278	Anaphylaxis		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		associated with cystic echinococcosis; protein:increased expression:blood	PMID:28095662|REF_RGD_ID:14696684
8775840	Il4	interleukin 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:21094227|PMID:21735453|PMID:22107450
8775840	Il4	interleukin 4	gene	DOID:9007558	Acute Experimental Pancreatitis	treatment	ISO	RGD:2898	D	RGD:9068941	20200609	RGD			PMID:24876883|REF_RGD_ID:10402805
8775840	Il4	interleukin 4	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps	treatment	ISO	RGD:10796	D	RGD:9068941	20250904	RGD			PMID:23751068|REF_RGD_ID:626419675
8775840	Il4	interleukin 4	gene	DOID:9008103	Seasonal Allergic Rhinitis		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nose:	PMID:7551298|REF_RGD_ID:8662960
8775840	Il4	interleukin 4	gene	DOID:9008103	Seasonal Allergic Rhinitis		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:9237816|REF_RGD_ID:7829817
8775840	Il4	interleukin 4	gene	DOID:9008163	Chronic Hepatitis B	disease_progression	ISO	RGD:736306	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-590C>T (human)	PMID:26281177|REF_RGD_ID:14696675
8775840	Il4	interleukin 4	gene	DOID:9008163	Chronic Hepatitis B	treatment	ISO	RGD:736306	D	RGD:9068941	20200609	RGD			PMID:21331994|REF_RGD_ID:14696697
8775840	Il4	interleukin 4	gene	DOID:9008366	Meningococcal Infections	susceptibility	ISO	RGD:736306	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-524C>T(human)	PMID:20016407|REF_RGD_ID:14696700
8775840	Il4	interleukin 4	gene	DOID:9008680	Respiratory Tract Infections		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		associated with Asthma	PMID:20573437|REF_RGD_ID:5128554
8775840	Il4	interleukin 4	gene	DOID:9008821	Otitis Media with Effusion		ISO	RGD:2898	D	RGD:9068941	20200609	RGD		protein:increased expression:middle ear	PMID:18975780|REF_RGD_ID:2317282
8775840	Il4	interleukin 4	gene	DOID:9008885	Staphylococcal Infections	susceptibility	ISO	RGD:736306	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-542C>T (human)	PMID:18422436|REF_RGD_ID:7829791
8775840	Il4	interleukin 4	gene	DOID:9065	leishmaniasis		ISO	RGD:736306	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:2145107|REF_RGD_ID:7829781
8775840	Il4	interleukin 4	gene	DOID:9065	leishmaniasis	treatment	ISO	RGD:10796	D	RGD:9068941	20200609	RGD			PMID:2521244|REF_RGD_ID:7829820
8775840	Il4	interleukin 4	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18158872
8775840	Il4	interleukin 4	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:736306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20102417
8775840	Il4	interleukin 4	gene	DOID:9408	acute myocardial infarction	ameliorates	ISO	RGD:2898	D	RGD:9068941	20230420	RGD			PMID:32068187|REF_RGD_ID:267358468
8775840	Il4	interleukin 4	gene	DOID:9415	allergic asthma		ISO	RGD:10796	D	RGD:9068941	20260402	RGD		protein:increased expression:lung	PMID:37500026|REF_RGD_ID:640480071
8775840	Il4	interleukin 4	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:10796	D	RGD:9068941	20220825	MouseDO		OMIM:222100	
8775840	Il4	interleukin 4	gene	DOID:9790	toxocariasis	treatment	ISO	RGD:736306	D	RGD:9068941	20200609	RGD			PMID:26732352|REF_RGD_ID:11534298
8775847	Lsmem1	leucine rich single-pass membrane protein 1	gene	DOID:3275	thymoma		ISO	RGD:1606916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8775847	Lsmem1	leucine rich single-pass membrane protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8775847	Lsmem1	leucine rich single-pass membrane protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8775847	Lsmem1	leucine rich single-pass membrane protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8775855	Anxa11	annexin A11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8775855	Anxa11	annexin A11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8775855	Anxa11	annexin A11	gene	DOID:0080225	amyotrophic lateral sclerosis type 23		ISO	RGD:1320510	D	RGD:7240710	20190315	OMIM			
8775855	Anxa11	annexin A11	gene	DOID:0080225	amyotrophic lateral sclerosis type 23		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 23 | ClinVar Annotator: match by term: ANXA11-related condition | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 23 | ClinVar Annotator: match by term: amyotrophic lateral sclerosis type 23	PMID:16199547|PMID:25741868|PMID:28469040|PMID:28492532|PMID:28889094|PMID:29650794|PMID:29845112|PMID:30109997|PMID:33087501|PMID:33218681|PMID:34275688|PMID:35047667|PMID:36226077|PMID:36280108|PMID:37712079|PMID:37952009|PMID:38896345
8775855	Anxa11	annexin A11	gene	DOID:0081121	inclusion body myopathy and brain white matter abnormalities		ISO	RGD:1320510	D	RGD:7240710	20220323	OMIM			
8775855	Anxa11	annexin A11	gene	DOID:0081121	inclusion body myopathy and brain white matter abnormalities		ISO	RGD:1320510	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES | ClinVar Annotator: match by term: Inclusion body myopathy and brain white matter abnormalities | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 6	PMID:25741868|PMID:28469040|PMID:28492532|PMID:29845112|PMID:33087501|PMID:34048612
8775855	Anxa11	annexin A11	gene	DOID:1115	sarcoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8775855	Anxa11	annexin A11	gene	DOID:11335	sarcoidosis		ISO	RGD:1320510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19165924
8775855	Anxa11	annexin A11	gene	DOID:1909	melanoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8775855	Anxa11	annexin A11	gene	DOID:3275	thymoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8775855	Anxa11	annexin A11	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:17576681|PMID:25741868|PMID:28492532|PMID:3409905|PMID:34099057|PMID:9536098
8775855	Anxa11	annexin A11	gene	DOID:4362	cervical cancer		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8775855	Anxa11	annexin A11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8775855	Anxa11	annexin A11	gene	DOID:5041	esophageal cancer		ISO	RGD:1320510	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8775855	Anxa11	annexin A11	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8775855	Anxa11	annexin A11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8775855	Anxa11	annexin A11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8775855	Anxa11	annexin A11	gene	DOID:630	genetic disease		ISO	RGD:1320510	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28469040|PMID:28492532|PMID:29650794|PMID:33087501
8775855	Anxa11	annexin A11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8775855	Anxa11	annexin A11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8775855	Anxa11	annexin A11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
8775855	Anxa11	annexin A11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8775881	Cnga4	cyclic nucleotide gated channel subunit alpha 4	gene	DOID:1324	lung cancer		ISO	RGD:1603715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8775881	Cnga4	cyclic nucleotide gated channel subunit alpha 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8775881	Cnga4	cyclic nucleotide gated channel subunit alpha 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8775914	Dach2	dachshund family transcription factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8775914	Dach2	dachshund family transcription factor 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8775914	Dach2	dachshund family transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775914	Dach2	dachshund family transcription factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8775914	Dach2	dachshund family transcription factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8775914	Dach2	dachshund family transcription factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8775930	Cd80	CD80 molecule	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:2314	D	RGD:9068941	20200609	RGD			PMID:10590132|REF_RGD_ID:6902938
8775930	Cd80	CD80 molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8775930	Cd80	CD80 molecule	gene	DOID:0060189	ileitis		ISO	RGD:10316	D	RGD:9068941	20200609	RGD			PMID:22068168|REF_RGD_ID:6902902
8775930	Cd80	CD80 molecule	gene	DOID:10534	stomach cancer		ISO	RGD:737082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8775930	Cd80	CD80 molecule	gene	DOID:10608	celiac disease		ISO	RGD:737082	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20190752
8775930	Cd80	CD80 molecule	gene	DOID:1074	kidney failure		ISO	RGD:2314	D	RGD:9068941	20200609	RGD			PMID:16893502|REF_RGD_ID:6902939
8775930	Cd80	CD80 molecule	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:737082	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21399635
8775930	Cd80	CD80 molecule	gene	DOID:12306	vitiligo		ISO	RGD:737082	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561518
8775930	Cd80	CD80 molecule	gene	DOID:2378	relapsing-remitting multiple sclerosis		ISO	RGD:737082	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, B cell	PMID:21310664|REF_RGD_ID:6893670
8775930	Cd80	CD80 molecule	gene	DOID:2841	asthma		ISO	RGD:10316	D	RGD:9068941	20200609	RGD			PMID:21051864|PMID:21352203|PMID:21440530|REF_RGD_ID:5132619|REF_RGD_ID:5132620|REF_RGD_ID:5132621
8775930	Cd80	CD80 molecule	gene	DOID:3070	high grade glioma		ISO	RGD:2314	D	RGD:9068941	20200609	RGD			PMID:10078962|REF_RGD_ID:727266
8775930	Cd80	CD80 molecule	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:737082	D	RGD:9068941	20200609	RGD			PMID:19729666|REF_RGD_ID:4892292
8775930	Cd80	CD80 molecule	gene	DOID:3213	demyelinating disease		ISO	RGD:737082	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, B cell	PMID:21310664|REF_RGD_ID:6893670
8775930	Cd80	CD80 molecule	gene	DOID:3388	periodontal disease		ISO	RGD:2314	D	RGD:9068941	20200609	RGD			PMID:10657664|REF_RGD_ID:6902937
8775930	Cd80	CD80 molecule	gene	DOID:4483	rhinitis		ISO	RGD:10316	D	RGD:9068941	20200609	RGD			PMID:21108691|REF_RGD_ID:5132622
8775930	Cd80	CD80 molecule	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:2314	D	RGD:9068941	20200609	RGD			PMID:10712436|REF_RGD_ID:6902936
8775930	Cd80	CD80 molecule	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:737082	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22917707|REF_RGD_ID:6893647
8775930	Cd80	CD80 molecule	gene	DOID:874	bacterial pneumonia		ISO	RGD:10316	D	RGD:9068941	20200609	RGD			PMID:20949109|REF_RGD_ID:4892562
8775930	Cd80	CD80 molecule	gene	DOID:9000469	Viral Myocarditis	treatment	ISO	RGD:10316	D	RGD:9068941	20200609	RGD			PMID:29039143|REF_RGD_ID:13702893
8775930	Cd80	CD80 molecule	gene	DOID:9001488	Human Influenza		ISO	RGD:10316	D	RGD:9068941	20200609	RGD			PMID:10604996|PMID:19922665|REF_RGD_ID:5132270|REF_RGD_ID:5132623
8775930	Cd80	CD80 molecule	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:10316	D	RGD:9068941	20200609	RGD			PMID:22004797|REF_RGD_ID:6902903
8775930	Cd80	CD80 molecule	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:2314	D	RGD:9068941	20200609	RGD			PMID:9379015|REF_RGD_ID:6902906
8775930	Cd80	CD80 molecule	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:10316	D	RGD:9068941	20200609	RGD			PMID:11160314|REF_RGD_ID:2307200
8775930	Cd80	CD80 molecule	gene	DOID:9007356	Eczema		ISO	RGD:737082	D	RGD:9068941	20200609	RGD		DNA:SNP	PMID:22192168|REF_RGD_ID:6893665
8775930	Cd80	CD80 molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8775930	Cd80	CD80 molecule	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:737082	D	RGD:9068941	20200609	RGD			PMID:20653937|REF_RGD_ID:6902898
8775930	Cd80	CD80 molecule	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:737082	D	RGD:9068941	20200609	RGD			PMID:19658094|REF_RGD_ID:5132624
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:0060180	colitis		ISO	RGD:1557544	D	RGD:9068941	20200609	RGD			PMID:20921147|REF_RGD_ID:5508755
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:10457	Legionnaires' disease		ISO	RGD:1557544	D	RGD:9068941	20200609	RGD			PMID:20685341|REF_RGD_ID:5131443
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1344653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:2841	asthma		ISO	RGD:1344653	D	RGD:9068941	20200609	RGD		DNA:insertion:cds:	PMID:15718249|REF_RGD_ID:5131518
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:2841	asthma		ISO	RGD:1344653	D	RGD:9068941	20260205	RGD		DNA:SNPs: :multiple	PMID:15990792|REF_RGD_ID:632518351
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:2841	asthma		ISO	RGD:1344653	D	RGD:9068941	20260205	RGD		associated with obesity;mRNA:increased expression:sputum	PMID:29857009|REF_RGD_ID:632518350
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:2841	asthma		ISO	RGD:1348457,RGD:1314707	D	RGD:9068941	20260205	RGD		DNA:SNP: :rs2907749	PMID:19968634|REF_RGD_ID:632518354
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1344653	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2075817 (human)	PMID:16918516|REF_RGD_ID:5131519
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1344653	D	RGD:9068941	20260205	RGD		DNA:SNP:exon: p.E266K (rs2075820)	PMID:30874883|REF_RGD_ID:632518349
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1344653	D	RGD:9068941	20260205	RGD		protein:increased expression:epithelium of bronchus, lamina propria of bronchus	PMID:28536249|REF_RGD_ID:632518353
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:3310	atopic dermatitis	susceptibility	ISO	RGD:1344653	D	RGD:9068941	20260205	RGD		DNA:SNPs, haplotypes: :multiple	PMID:15990792|REF_RGD_ID:632518351
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:4481	allergic rhinitis		ISO	RGD:1344653	D	RGD:9068941	20260205	RGD		mRNA, protein:increased expression:nasal cavity mucosa	PMID:23858718|REF_RGD_ID:8547523
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:4483	rhinitis		ISO	RGD:1344653	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:nose	PMID:20384614|REF_RGD_ID:5131446
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1344653	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:863	nervous system disease		ISO	RGD:1344653	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11158245
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:874	bacterial pneumonia		ISO	RGD:1557544	D	RGD:9068941	20200609	RGD			PMID:19360122|REF_RGD_ID:5131449
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:1557544	D	RGD:9068941	20200609	RGD			PMID:23028889|REF_RGD_ID:9831166
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:9008103	Seasonal Allergic Rhinitis	susceptibility	ISO	RGD:1344653	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2075817 (human)	PMID:16918516|REF_RGD_ID:5131519
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8775949	Nod1	nucleotide binding oligomerization domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1344653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8775972	Aanat	aralkylamine N-acetyltransferase	gene	DOID:0050628	advanced sleep phase syndrome		ISO	RGD:736736	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12736803
8775972	Aanat	aralkylamine N-acetyltransferase	gene	DOID:0050628	advanced sleep phase syndrome		ISO	RGD:736736	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.A129T(human)	PMID:12736803|REF_RGD_ID:1300232
8775972	Aanat	aralkylamine N-acetyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:736736	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8775972	Aanat	aralkylamine N-acetyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8775972	Aanat	aralkylamine N-acetyltransferase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2006	D	RGD:9068941	20200609	RGD			PMID:18624957|REF_RGD_ID:2301030
8775972	Aanat	aralkylamine N-acetyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8775972	Aanat	aralkylamine N-acetyltransferase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2006	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, decreased activity:pineal gland	PMID:16441550|REF_RGD_ID:2301037
8775991	Gstk1	glutathione S-transferase kappa 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:735188	D	RGD:9068941	20251106	RGD			PMID:28849192|REF_RGD_ID:629006534
8775991	Gstk1	glutathione S-transferase kappa 1	gene	DOID:10533	viral pneumonia		ISO	RGD:1332271	D	RGD:9068941	20250918	RGD		associated with swine influenza	PMID:22355371|REF_RGD_ID:626469575
8775991	Gstk1	glutathione S-transferase kappa 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735188	D	RGD:9068941	20250918	RGD		protein:increased expression:hippocampus	PMID:28495476|REF_RGD_ID:626469580
8775991	Gstk1	glutathione S-transferase kappa 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606879	D	RGD:9068941	20251030	RGD		protein:increased expression:colon, epithelial cell	PMID:30092668|REF_RGD_ID:629006515
8775991	Gstk1	glutathione S-transferase kappa 1	gene	DOID:5844	myocardial infarction		ISO	RGD:735188	D	RGD:9068941	20250918	RGD		mRNA:decreased expression:heart	PMID:33762941|REF_RGD_ID:626469577
8775991	Gstk1	glutathione S-transferase kappa 1	gene	DOID:8398	osteoarthritis		ISO	RGD:1606879	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8775991	Gstk1	glutathione S-transferase kappa 1	gene	DOID:9000231	plaque psoriasis		ISO	RGD:1606879	D	RGD:9068941	20251030	RGD		protein:increased expression:skin of body	PMID:27613512|REF_RGD_ID:629006512
8775991	Gstk1	glutathione S-transferase kappa 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1606879	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8775991	Gstk1	glutathione S-transferase kappa 1	gene	DOID:9007661	Dwarfism	treatment	ISO	RGD:1332271	D	RGD:9068941	20251030	RGD			PMID:24285747|REF_RGD_ID:629006517
8775991	Gstk1	glutathione S-transferase kappa 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:735188	D	RGD:9068941	20250918	RGD		mRNA:decreased expression:islet of Langerhans	PMID:23111281|REF_RGD_ID:7794858
8776022	Myo7b	myosin VIIB	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8776022	Myo7b	myosin VIIB	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8776022	Myo7b	myosin VIIB	gene	DOID:10534	stomach cancer		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8776022	Myo7b	myosin VIIB	gene	DOID:1115	sarcoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8776022	Myo7b	myosin VIIB	gene	DOID:1909	melanoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8776022	Myo7b	myosin VIIB	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8776022	Myo7b	myosin VIIB	gene	DOID:3275	thymoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8776022	Myo7b	myosin VIIB	gene	DOID:4362	cervical cancer		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8776022	Myo7b	myosin VIIB	gene	DOID:440	neuromuscular disease		ISO	RGD:1352567	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
8776022	Myo7b	myosin VIIB	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8776022	Myo7b	myosin VIIB	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8776022	Myo7b	myosin VIIB	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776022	Myo7b	myosin VIIB	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8776022	Myo7b	myosin VIIB	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
8776022	Myo7b	myosin VIIB	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8776022	Myo7b	myosin VIIB	gene	DOID:9007661	Dwarfism		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8776022	Myo7b	myosin VIIB	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8776022	Myo7b	myosin VIIB	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8776082	Wnt10a	Wnt family member 10A	gene	DOID:0050591	tooth agenesis		ISO	RGD:1315958	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Reduced number of teeth | ClinVar Annotator: match by term: Tooth agenesis	PMID:19559398|PMID:22581971|PMID:23401279|PMID:24043634|PMID:24312213|PMID:24398796|PMID:25629078|PMID:25741868|PMID:27650966|PMID:28492532|PMID:30046887|PMID:30526585|PMID:34228861|PMID:36071541
8776082	Wnt10a	Wnt family member 10A	gene	DOID:0050746	mantle cell lymphoma		ISO	RGD:1315958	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18787224
8776082	Wnt10a	Wnt family member 10A	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1315958	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex	PMID:22581971|PMID:23401279|PMID:25741868|PMID:27650966|PMID:28492532|PMID:30426266
8776082	Wnt10a	Wnt family member 10A	gene	DOID:0111647	Schopf-Schulz-Passarge syndrome		ISO	RGD:1315958	D	RGD:7240710	20180130	OMIM			
8776082	Wnt10a	Wnt family member 10A	gene	DOID:0111647	Schopf-Schulz-Passarge syndrome		ISO	RGD:1315958	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome	PMID:16199547|PMID:17847007|PMID:19471313|PMID:19559398|PMID:20163410|PMID:20979233|PMID:21143469|PMID:22581971|PMID:22670871|PMID:23167694|PMID:23401279|PMID:24043634|PMID:24311251|PMID:24312213|PMID:24398796|PMID:24449199|PMID:24458874|PMID:24700731|PMID:24902757|PMID:25629078|PMID:25741868|PMID:26087098|PMID:27650966|PMID:28105635|PMID:28492532|PMID:28813618|PMID:2897600|PMID:28976000|PMID:28981473|PMID:29178643|PMID:29271000|PMID:29367877|PMID:30046887|PMID:30265373|PMID:30426266|PMID:30526585|PMID:30569517|PMID:30974434|PMID:31103801|PMID:31652981|PMID:33034246|PMID:33725141|PMID:34228861|PMID:34593752|PMID:36071541|PMID:36553094|PMID:36832485|PMID:37005710
8776082	Wnt10a	Wnt family member 10A	gene	DOID:1909	melanoma		ISO	RGD:1315958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8776082	Wnt10a	Wnt family member 10A	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1315958	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia	PMID:19559398|PMID:20979233|PMID:21279306|PMID:21484994|PMID:22581971|PMID:23167694|PMID:23401279|PMID:23991204|PMID:24449199|PMID:24700731|PMID:24902757|PMID:25629078|PMID:25713620|PMID:25741868|PMID:26964878|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:28976000|PMID:29364747|PMID:29431110|PMID:30046887|PMID:30426266|PMID:30974434|PMID:33034246|PMID:34228861|PMID:35537890
8776082	Wnt10a	Wnt family member 10A	gene	DOID:3390	palmoplantar keratosis		ISO	RGD:1315958	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Palmoplantar keratoderma	PMID:24449199|PMID:28492532
8776082	Wnt10a	Wnt family member 10A	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1315958	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
8776082	Wnt10a	Wnt family member 10A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:25741868|PMID:28492532
8776082	Wnt10a	Wnt family member 10A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8776082	Wnt10a	Wnt family member 10A	gene	DOID:630	genetic disease		ISO	RGD:1315958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22581971|PMID:23401279|PMID:25741868|PMID:27650966|PMID:28492532|PMID:30426266
8776082	Wnt10a	Wnt family member 10A	gene	DOID:9002747	Selective Tooth Agenesis 2		ISO	RGD:1315958	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: STHAG2	PMID:23401279|PMID:24043634|PMID:24312213|PMID:25629078|PMID:25741868|PMID:28492532|PMID:30526585|PMID:36071541
8776082	Wnt10a	Wnt family member 10A	gene	DOID:9006065	Arthralgia		ISO	RGD:1315958	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:24449199|PMID:28492532
8776082	Wnt10a	Wnt family member 10A	gene	DOID:9008653	Selective Tooth Agenesis 4		ISO	RGD:1315958	D	RGD:7240710	20180130	OMIM			
8776082	Wnt10a	Wnt family member 10A	gene	DOID:9008653	Selective Tooth Agenesis 4		ISO	RGD:1315958	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SUCCEDANEOUS TEETH, AGENESIS OF | ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 4, WITH OR WITHOUT ECTODERMAL DYSPLASIA | ClinVar Annotator: match by term: Tooth agenesis, selective, 4	PMID:19559398|PMID:22581971|PMID:23167694|PMID:23401279|PMID:24043634|PMID:24312213|PMID:24398796|PMID:24449199|PMID:24458874|PMID:24902757|PMID:25629078|PMID:25741868|PMID:27650966|PMID:27657131|PMID:28492532|PMID:28976000|PMID:29178643|PMID:30046887|PMID:30426266|PMID:30526585|PMID:31103801|PMID:33034246|PMID:34228861|PMID:36071541|PMID:36294409
8776082	Wnt10a	Wnt family member 10A	gene	DOID:9008686	Odontoonychodermal Dysplasia		ISO	RGD:1315958	D	RGD:7240710	20180130	OMIM			
8776082	Wnt10a	Wnt family member 10A	gene	DOID:9008686	Odontoonychodermal Dysplasia		ISO	RGD:1315958	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ODONTOONYCHODERMAL DYSPLASIA | ClinVar Annotator: match by term: Odonto-onycho-dermal dysplasia | ClinVar Annotator: match by term: Odontoonychodermal dysplasia	PMID:17576681|PMID:17847007|PMID:19559398|PMID:20979233|PMID:22581971|PMID:23401279|PMID:23991204|PMID:24043634|PMID:24312213|PMID:24398796|PMID:24449199|PMID:24902757|PMID:25629078|PMID:25741868|PMID:27650966|PMID:27657131|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:2897600|PMID:28976000|PMID:29178643|PMID:29314690|PMID:30046887|PMID:30426266|PMID:30526585|PMID:30569517|PMID:30974434|PMID:31103801|PMID:34228861|PMID:34593752|PMID:36071541|PMID:9536098
8776090	Lgi1	leucine rich glioma inactivated 1	gene	DOID:0051090	developmental and epileptic encephalopathy 121		ISO	RGD:733103	D	RGD:7240710	20260203	OMIM			
8776090	Lgi1	leucine rich glioma inactivated 1	gene	DOID:0051090	developmental and epileptic encephalopathy 121		ISO	RGD:733103	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 121	PMID:25741868
8776090	Lgi1	leucine rich glioma inactivated 1	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:733103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant epilepsy	PMID:25741868|PMID:28492532
8776090	Lgi1	leucine rich glioma inactivated 1	gene	DOID:0060748	familial temporal lobe epilepsy 1		ISO	RGD:733103	D	RGD:7240710	20180130	OMIM			
8776090	Lgi1	leucine rich glioma inactivated 1	gene	DOID:0060748	familial temporal lobe epilepsy 1		ISO	RGD:733103	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant epilepsy with auditory features | ClinVar Annotator: match by term: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 | ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 | ClinVar Annotator: match by term: Epilepsy, lateral temporal lobe, autosomal dominant | ClinVar Annotator: match by term: LGI1-related condition	PMID:11810107|PMID:11978770|PMID:12205652|PMID:12601709|PMID:14510822|PMID:15079010|PMID:15079011|PMID:15349881|PMID:15660777|PMID:15857855|PMID:16199547|PMID:17067999|PMID:17562837|PMID:17576681|PMID:18711109|PMID:19780791|PMID:20659151|PMID:20863412|PMID:21444903|PMID:21504429|PMID:22496201|PMID:24206907|PMID:25485908|PMID:25741868|PMID:26467025|PMID:26773249|PMID:26993267|PMID:27760137|PMID:28492532|PMID:29670100|PMID:29924869|PMID:30284771|PMID:31440721|PMID:32086284|PMID:37471090|PMID:9536098
8776090	Lgi1	leucine rich glioma inactivated 1	gene	DOID:1059	intellectual disability		ISO	RGD:733103	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8776090	Lgi1	leucine rich glioma inactivated 1	gene	DOID:1826	epilepsy		ISO	RGD:733103	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder	PMID:21504429|PMID:25741868|PMID:26773249|PMID:28492532
8776090	Lgi1	leucine rich glioma inactivated 1	gene	DOID:1826	epilepsy		ISO	RGD:733103	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizures	PMID:11810107|PMID:15079010|PMID:15857855|PMID:18711109|PMID:19780791|PMID:25485908|PMID:25741868|PMID:27760137|PMID:28492532|PMID:29034879
8776090	Lgi1	leucine rich glioma inactivated 1	gene	DOID:1909	melanoma		ISO	RGD:733103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8776090	Lgi1	leucine rich glioma inactivated 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733103	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8776090	Lgi1	leucine rich glioma inactivated 1	gene	DOID:630	genetic disease		ISO	RGD:733103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15079011|PMID:15660777|PMID:25741868|PMID:28492532|PMID:29924869
8776090	Lgi1	leucine rich glioma inactivated 1	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:628742	D	RGD:9068941	20200609	RGD			PMID:30813600|REF_RGD_ID:14995940
8776090	Lgi1	leucine rich glioma inactivated 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0050569	Seckel syndrome		ISO	RGD:1553493	D	RGD:9068941	20260521	MouseDO			
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0050587	trichotillomania		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trichotillomania	PMID:15793586|PMID:16900296|PMID:20522431|PMID:28492532
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0070010	Seckel syndrome 4		ISO	RGD:1321379	D	RGD:7240710	20180130	OMIM			
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0070010	Seckel syndrome 4		ISO	RGD:1321379	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: SECKEL SYNDROME 4 | ClinVar Annotator: match by term: Seckel syndrome 4	PMID:15793586|PMID:16900296|PMID:18414213|PMID:2052243|PMID:20522431|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0070290	primary autosomal recessive microcephaly 6		ISO	RGD:1321379	D	RGD:7240710	20180130	OMIM			
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0070290	primary autosomal recessive microcephaly 6		ISO	RGD:1321379	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CENPJ-related condition | ClinVar Annotator: match by term: MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive	PMID:15793586|PMID:16900296|PMID:18414213|PMID:20301772|PMID:2052243|PMID:20522431|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32549991|PMID:34958143|PMID:35229910
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0070296	autosomal recessive primary microcephaly		ISO	RGD:1321379	D	RGD:9068941	20260521	RGD		DNA:deletion mutation:cds:c.3243-46delTCAG (human)	PMID:16900296|REF_RGD_ID:11541115
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0070297	primary microcephaly		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:15793586|PMID:16900296|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0112232	lissencephaly 3		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lissencephaly type 3	PMID:15793586|PMID:16900296|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0112234	microlissencephaly		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microlissencephaly	PMID:15793586|PMID:16900296|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:10534	stomach cancer		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:1059	intellectual disability		ISO	RGD:1321379	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:15793586|PMID:16900296|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:10907	microcephaly		ISO	RGD:1321379	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly	PMID:15793586|PMID:16900296|PMID:20301772|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:1115	sarcoma		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:12849	autistic disorder		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:15793586|PMID:16900296|PMID:20522431|PMID:28492532
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:1826	epilepsy		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:15793586|PMID:16900296|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:1909	melanoma		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Head-banging	PMID:15793586|PMID:16900296|PMID:20522431|PMID:28492532
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:3275	thymoma		ISO	RGD:1321379	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:535	sleep disorder		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:15793586|PMID:16900296|PMID:20522431|PMID:28492532
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:630	genetic disease		ISO	RGD:1321379	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:630	genetic disease		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:36413997
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:15793586|PMID:16900296|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8776110	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:9849	Meniere's disease		ISO	RGD:1321379	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Meniere disease | ClinVar Annotator: match by term: Ménière's disease	PMID:25741868|PMID:28492532
8776132	Ankrd13c	ankyrin repeat domain 13C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8776132	Ankrd13c	ankyrin repeat domain 13C	gene	DOID:1115	sarcoma		ISO	RGD:1604586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8776132	Ankrd13c	ankyrin repeat domain 13C	gene	DOID:1324	lung cancer		ISO	RGD:1604586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8776132	Ankrd13c	ankyrin repeat domain 13C	gene	DOID:3275	thymoma		ISO	RGD:1604586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8776132	Ankrd13c	ankyrin repeat domain 13C	gene	DOID:4362	cervical cancer		ISO	RGD:1604586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8776132	Ankrd13c	ankyrin repeat domain 13C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776132	Ankrd13c	ankyrin repeat domain 13C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8776132	Ankrd13c	ankyrin repeat domain 13C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8776132	Ankrd13c	ankyrin repeat domain 13C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8776132	Ankrd13c	ankyrin repeat domain 13C	gene	DOID:9256	colorectal cancer		ISO	RGD:1604586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8776154	Plau	plasminogen activator, urokinase	gene	DOID:0050127	sinusitis		ISO	RGD:735727	D	RGD:9068941	20200609	RGD			PMID:21711960|REF_RGD_ID:6483796
8776154	Plau	plasminogen activator, urokinase	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18491991
8776154	Plau	plasminogen activator, urokinase	gene	DOID:0050855	renal fibrosis		ISO	RGD:733174	D	RGD:9068941	20200609	RGD		associated with Ureteral Obstruction	PMID:15882265|PMID:19690163|REF_RGD_ID:7241138|REF_RGD_ID:7241268
8776154	Plau	plasminogen activator, urokinase	gene	DOID:0050866	oral squamous cell carcinoma	severity	ISO	RGD:735727	D	RGD:9068941	20200609	RGD		protein:increased expression:oral mucosa (rat)	PMID:15878520|REF_RGD_ID:8547730
8776154	Plau	plasminogen activator, urokinase	gene	DOID:0051061	stroke		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12742636
8776154	Plau	plasminogen activator, urokinase	gene	DOID:0060903	thrombosis		ISO	RGD:3343	D	RGD:9068941	20200609	RGD		protein:increased activity:extracellular region (rat)	PMID:20016209|REF_RGD_ID:2325698
8776154	Plau	plasminogen activator, urokinase	gene	DOID:0060903	thrombosis		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12830724|PMID:2106299|PMID:2133253|PMID:2795766|PMID:4884574|PMID:8657906
8776154	Plau	plasminogen activator, urokinase	gene	DOID:0080348	Alzheimer's disease 1		ISO	RGD:735727	D	RGD:7240710	20260729	OMIM			
8776154	Plau	plasminogen activator, urokinase	gene	DOID:0080653	urolithiasis		ISO	RGD:735727	D	RGD:9068941	20200609	RGD		DNA:snp:3' utr:g.4065C>T (human)	PMID:18240004|REF_RGD_ID:7241142
8776154	Plau	plasminogen activator, urokinase	gene	DOID:0111050	Quebec platelet disorder		ISO	RGD:735727	D	RGD:7240710	20260729	OMIM			
8776154	Plau	plasminogen activator, urokinase	gene	DOID:10283	prostate cancer	severity	ISO	RGD:735727	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:10024688|REF_RGD_ID:7241264
8776154	Plau	plasminogen activator, urokinase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733174	D	RGD:9068941	20250724	MouseDO		OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907	
8776154	Plau	plasminogen activator, urokinase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733174	D	RGD:9068941	20250724	RGD			PMID:21860091|REF_RGD_ID:6483793
8776154	Plau	plasminogen activator, urokinase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735727	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	
8776154	Plau	plasminogen activator, urokinase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735727	D	RGD:9068941	20250724	RGD		DNA:SNPs: :multiple	PMID:18076107|REF_RGD_ID:6484115
8776154	Plau	plasminogen activator, urokinase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735727	D	RGD:9068941	20250724	RGD		mRNA:increased expression:brain	PMID:21790972|REF_RGD_ID:6483794
8776154	Plau	plasminogen activator, urokinase	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:735727	D	RGD:9068941	20200609	RGD			PMID:19889475|REF_RGD_ID:6483807
8776154	Plau	plasminogen activator, urokinase	gene	DOID:10754	otitis media	treatment	IEP		D	RGD:11553864|PMID:2473673	20161014	RGD			
8776154	Plau	plasminogen activator, urokinase	gene	DOID:10941	intracranial aneurysm		ISO	RGD:733174	D	RGD:9068941	20200609	RGD			PMID:21786025|REF_RGD_ID:6483795
8776154	Plau	plasminogen activator, urokinase	gene	DOID:10952	nephritis		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12671112
8776154	Plau	plasminogen activator, urokinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735727	D	RGD:9068941	20200609	RGD		DNA:snp:3' utr:g.4065C>T (human)	PMID:16825821|REF_RGD_ID:7241144
8776154	Plau	plasminogen activator, urokinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735727	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder (human)	PMID:18336603|REF_RGD_ID:7241213
8776154	Plau	plasminogen activator, urokinase	gene	DOID:11054	urinary bladder cancer	treatment	ISO	RGD:3343	D	RGD:9068941	20200609	RGD			PMID:19010488|REF_RGD_ID:4144867
8776154	Plau	plasminogen activator, urokinase	gene	DOID:11123	IgA vasculitis		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12671112|PMID:9002298
8776154	Plau	plasminogen activator, urokinase	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:735727	D	RGD:9068941	20200609	RGD			PMID:17994220|REF_RGD_ID:4892109
8776154	Plau	plasminogen activator, urokinase	gene	DOID:11446	sciatic neuropathy		ISO	RGD:3343	D	RGD:9068941	20200609	RGD		mRNA:increased expression:sciatic nerve (rat)	PMID:18716863|REF_RGD_ID:6483827
8776154	Plau	plasminogen activator, urokinase	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:3343	D	RGD:9068941	20200609	RGD			PMID:21151668|REF_RGD_ID:7241585
8776154	Plau	plasminogen activator, urokinase	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:733174	D	RGD:9068941	20200609	RGD		associated with Venous Thrombosis; protein:increased expression:wall of vein, thrombus (mouse)	PMID:22119245|REF_RGD_ID:6903200
8776154	Plau	plasminogen activator, urokinase	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:3343	D	RGD:9068941	20200609	RGD			PMID:19615318|REF_RGD_ID:7241800
8776154	Plau	plasminogen activator, urokinase	gene	DOID:1461	cholesterol embolism		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16773802
8776154	Plau	plasminogen activator, urokinase	gene	DOID:1612	breast cancer		ISO	RGD:735727	D	RGD:9068941	20200609	RGD		protein:increased expression:nipple, discharge (human)	PMID:22296682|REF_RGD_ID:7241082
8776154	Plau	plasminogen activator, urokinase	gene	DOID:1612	breast cancer	treatment	ISO	RGD:3343	D	RGD:9068941	20200609	RGD			PMID:19500378|REF_RGD_ID:7241801
8776154	Plau	plasminogen activator, urokinase	gene	DOID:1749	squamous cell carcinoma	severity	ISO	RGD:735727	D	RGD:9068941	20200609	RGD		mRNA:increased expression:oral cavity (human)	PMID:12866027|REF_RGD_ID:7241134
8776154	Plau	plasminogen activator, urokinase	gene	DOID:1793	pancreatic cancer		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10467400
8776154	Plau	plasminogen activator, urokinase	gene	DOID:1824	status epilepticus		ISO	RGD:3343	D	RGD:9068941	20200609	RGD			PMID:17040480|REF_RGD_ID:6484215
8776154	Plau	plasminogen activator, urokinase	gene	DOID:1824	status epilepticus		ISO	RGD:3343	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:hippocampus (rat)	PMID:19527776|REF_RGD_ID:6483810
8776154	Plau	plasminogen activator, urokinase	gene	DOID:1824	status epilepticus		ISO	RGD:733174	D	RGD:9068941	20200609	RGD			PMID:20026272|REF_RGD_ID:6483805
8776154	Plau	plasminogen activator, urokinase	gene	DOID:1936	atherosclerosis		ISO	RGD:733174	D	RGD:9068941	20200609	RGD			PMID:15096455|REF_RGD_ID:7241203
8776154	Plau	plasminogen activator, urokinase	gene	DOID:1936	atherosclerosis		ISO	RGD:735727	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic; protein:increased expression:plasma (human)	PMID:17706748|REF_RGD_ID:7241201
8776154	Plau	plasminogen activator, urokinase	gene	DOID:2043	hepatitis B	severity	ISO	RGD:735727	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:18691743|REF_RGD_ID:6483828
8776154	Plau	plasminogen activator, urokinase	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3343	D	RGD:9068941	20200609	RGD			PMID:19952306|REF_RGD_ID:7241795
8776154	Plau	plasminogen activator, urokinase	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3343	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex (rat)	PMID:21375013|REF_RGD_ID:7241584
8776154	Plau	plasminogen activator, urokinase	gene	DOID:2316	brain ischemia		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10472989|PMID:10512912|PMID:17927297|PMID:9731615
8776154	Plau	plasminogen activator, urokinase	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14644129
8776154	Plau	plasminogen activator, urokinase	gene	DOID:2671	transitional cell carcinoma	severity	ISO	RGD:735727	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary tract, tumor (human)	PMID:15191676|REF_RGD_ID:7241280
8776154	Plau	plasminogen activator, urokinase	gene	DOID:2841	asthma		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21912604
8776154	Plau	plasminogen activator, urokinase	gene	DOID:2841	asthma		ISO	RGD:735727	D	RGD:9068941	20200609	RGD			PMID:18519237|REF_RGD_ID:4892037
8776154	Plau	plasminogen activator, urokinase	gene	DOID:2983	anuria		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8225663
8776154	Plau	plasminogen activator, urokinase	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9002298
8776154	Plau	plasminogen activator, urokinase	gene	DOID:299	adenocarcinoma		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10467400
8776154	Plau	plasminogen activator, urokinase	gene	DOID:3070	high grade glioma	severity	ISO	RGD:735727	D	RGD:9068941	20200609	RGD		protein:increased expression:brain (human)	PMID:7604873|REF_RGD_ID:7241260
8776154	Plau	plasminogen activator, urokinase	gene	DOID:3071	gliosarcoma	severity	ISO	RGD:733174	D	RGD:9068941	20200609	RGD		mouse gene in rat model	PMID:20606645|REF_RGD_ID:7241591
8776154	Plau	plasminogen activator, urokinase	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:3343	D	RGD:9068941	20200609	RGD			PMID:17651644|REF_RGD_ID:6484146
8776154	Plau	plasminogen activator, urokinase	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:735727	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum, neutrophil	PMID:20624254|REF_RGD_ID:6483803
8776154	Plau	plasminogen activator, urokinase	gene	DOID:326	ischemia		ISO	RGD:733174	D	RGD:9068941	20200609	RGD			PMID:17653104|REF_RGD_ID:6484145
8776154	Plau	plasminogen activator, urokinase	gene	DOID:326	ischemia		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15557913|PMID:8662173
8776154	Plau	plasminogen activator, urokinase	gene	DOID:3407	carotid artery disease		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10512912
8776154	Plau	plasminogen activator, urokinase	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11677890|PMID:15181847|PMID:17702958
8776154	Plau	plasminogen activator, urokinase	gene	DOID:3526	cerebral infarction		ISO	RGD:735727	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: therapeutic	PMID:12133459|PMID:16773802
8776154	Plau	plasminogen activator, urokinase	gene	DOID:3576	sagittal sinus thrombosis		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10668740
8776154	Plau	plasminogen activator, urokinase	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:733174	D	RGD:9068941	20200609	RGD			PMID:12376355|REF_RGD_ID:7241206
8776154	Plau	plasminogen activator, urokinase	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:3343	D	RGD:9068941	20200609	RGD			PMID:23327706|REF_RGD_ID:7241544
8776154	Plau	plasminogen activator, urokinase	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:735727	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:7516275|REF_RGD_ID:7241204
8776154	Plau	plasminogen activator, urokinase	gene	DOID:3798	pleural empyema		ISO	RGD:735727	D	RGD:9068941	20200609	RGD		Gene product used in treatment of disease	PMID:20304453|REF_RGD_ID:4891955
8776154	Plau	plasminogen activator, urokinase	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:735727	D	RGD:9068941	20200609	RGD			PMID:20937265|REF_RGD_ID:4892055
8776154	Plau	plasminogen activator, urokinase	gene	DOID:3969	papillary thyroid carcinoma	severity	ISO	RGD:735727	D	RGD:9068941	20200609	RGD		mRNA:increased expression:thyroid gland (human)	PMID:22702340|REF_RGD_ID:7241798
8776154	Plau	plasminogen activator, urokinase	gene	DOID:4450	renal cell carcinoma	severity	ISO	RGD:735727	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney (human)	PMID:20544684|REF_RGD_ID:7241133
8776154	Plau	plasminogen activator, urokinase	gene	DOID:4483	rhinitis		ISO	RGD:733174	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nasal cavity epithelium	PMID:21339035|REF_RGD_ID:8547809
8776154	Plau	plasminogen activator, urokinase	gene	DOID:4724	brain edema		ISO	RGD:3343	D	RGD:9068941	20200609	RGD		associated with Burns;mRNA:increased expression:brain	PMID:18718505|REF_RGD_ID:6483826
8776154	Plau	plasminogen activator, urokinase	gene	DOID:4724	brain edema		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11677890
8776154	Plau	plasminogen activator, urokinase	gene	DOID:5082	liver cirrhosis		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:18481824|PMID:26396155
8776154	Plau	plasminogen activator, urokinase	gene	DOID:5844	myocardial infarction		ISO	RGD:3343	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:myocardium	PMID:20952728|REF_RGD_ID:6484133
8776154	Plau	plasminogen activator, urokinase	gene	DOID:5844	myocardial infarction		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:1908371|PMID:2174952|PMID:2382605|PMID:3068399|PMID:3984876|PMID:8416330
8776154	Plau	plasminogen activator, urokinase	gene	DOID:5844	myocardial infarction		ISO	RGD:735727	D	RGD:9068941	20200609	RGD			PMID:17653104|REF_RGD_ID:6484145
8776154	Plau	plasminogen activator, urokinase	gene	DOID:5844	myocardial infarction		ISO	RGD:735727	D	RGD:9068941	20200609	RGD		DNA:SNP:3' utr:c.*141C>T (rs4065) (human)	PMID:20518747|REF_RGD_ID:6484126
8776154	Plau	plasminogen activator, urokinase	gene	DOID:649	prion disease		ISO	RGD:733174	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus	PMID:19459212|REF_RGD_ID:6483816
8776154	Plau	plasminogen activator, urokinase	gene	DOID:6713	cerebrovascular disease		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:1265806|PMID:17308290
8776154	Plau	plasminogen activator, urokinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733174	D	RGD:9068941	20240425	MouseDO		OMIM:114550	
8776154	Plau	plasminogen activator, urokinase	gene	DOID:783	end stage renal disease		ISO	RGD:3343	D	RGD:9068941	20200609	RGD		protein:increased expression, increased activity:kidney (rat)	PMID:15506291|REF_RGD_ID:7241279
8776154	Plau	plasminogen activator, urokinase	gene	DOID:783	end stage renal disease		ISO	RGD:735727	D	RGD:9068941	20200609	RGD			PMID:19926968|REF_RGD_ID:6483806
8776154	Plau	plasminogen activator, urokinase	gene	DOID:783	end stage renal disease	severity	ISO	RGD:735727	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (human)	PMID:22683425|REF_RGD_ID:7241081
8776154	Plau	plasminogen activator, urokinase	gene	DOID:783	end stage renal disease	treatment	ISO	RGD:735727	D	RGD:9068941	20200609	RGD			PMID:17869326|REF_RGD_ID:7241218
8776154	Plau	plasminogen activator, urokinase	gene	DOID:8283	peritonitis		ISO	RGD:735727	D	RGD:9068941	20200609	RGD			PMID:18571586|REF_RGD_ID:6484139
8776154	Plau	plasminogen activator, urokinase	gene	DOID:8337	appendicitis		ISO	RGD:735727	D	RGD:9068941	20200609	RGD		protein:increased expression:appendix	PMID:19153874|REF_RGD_ID:6483822
8776154	Plau	plasminogen activator, urokinase	gene	DOID:8805	intermediate coronary syndrome		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:2382605
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:733174	D	RGD:9068941	20200609	RGD			PMID:21573723|REF_RGD_ID:6483797
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9000184	Ventricular Fibrillation		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9083243
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9000310	Lung Injury		ISO	RGD:3343	D	RGD:9068941	20200609	RGD		associated with Hyperoxia	PMID:19099788|REF_RGD_ID:4143526
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9000363	Hematuria		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8225663
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9000469	Viral Myocarditis	susceptibility	ISO	RGD:733174	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart (mouse)	PMID:19246678|REF_RGD_ID:7241803
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9000483	Angina Pectoris		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:1730212
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9000528	Coronary Disease		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:1730212|PMID:9181759
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16475674
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:3343	D	RGD:9068941	20200609	RGD		Cavernous Nerve Injury; mRNA:increased expression:pelvic ganglion (rat)	PMID:22300381|REF_RGD_ID:7241556
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9001513	Asthenozoospermia		ISO	RGD:3343	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:testes, epididymis (rat)	PMID:18998460|REF_RGD_ID:7241809
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9001513	Asthenozoospermia		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18998460
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3343	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:20035854|REF_RGD_ID:6484134
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735727	D	RGD:9068941	20200609	RGD			PMID:16958060|REF_RGD_ID:2317516
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:3343	D	RGD:9068941	20200609	RGD			PMID:23018346|REF_RGD_ID:7241553
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9002055	Chronic Allograft Nephropathy		ISO	RGD:735727	D	RGD:9068941	20200609	RGD		protein:increased secretion:T lymphocyte (human)	PMID:16387096|REF_RGD_ID:7241259
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:3343	D	RGD:9068941	20200609	RGD		mRNA:increased expression:renal glomerulus (rat)	PMID:15322501|REF_RGD_ID:1580123
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:735727	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney (human)	PMID:18336603|REF_RGD_ID:7241213
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11454671|PMID:16430655|PMID:17192053
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:733174	D	RGD:9068941	20200609	RGD			PMID:20973954|REF_RGD_ID:6483801
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1265806|PMID:15181847|PMID:17702958|PMID:8025938|PMID:9731615
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:735727	D	RGD:9068941	20200609	RGD		protein:increased expression:colon, mucosa (human)	PMID:3884145|REF_RGD_ID:7241262
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9002928	Colonic Neoplasms	treatment	ISO	RGD:735727	D	RGD:9068941	20200609	RGD		human tumor cell line in mouse model	PMID:19214512|REF_RGD_ID:7241805
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9003023	Heart Rupture, Post-Infarction		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9403446
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:3343	D	RGD:9068941	20200609	RGD			PMID:21779364|REF_RGD_ID:6484131
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10392865|PMID:10472989|PMID:10512912|PMID:17308290
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9003121	Thromboembolism		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:3718210
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9003230	Graft Occlusion, Vascular		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10392865|PMID:11041470|PMID:8025938|PMID:8416330
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9003369	Strongylida Infections		ISO	RGD:3343	D	RGD:9068941	20200609	RGD			PMID:18022622|REF_RGD_ID:6484141
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:3343	D	RGD:9068941	20200609	RGD			PMID:19587273|REF_RGD_ID:2316117
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:3343	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased activity:hippocampus (rat)	PMID:18467699|REF_RGD_ID:6483831
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15557913|PMID:3161212|PMID:3488869|PMID:6359570
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:3343	D	RGD:9068941	20200609	RGD			PMID:22160250|REF_RGD_ID:7241558
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3343	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord (rat)	PMID:19663807|REF_RGD_ID:6483808
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:733174	D	RGD:9068941	20200609	RGD			PMID:18586014|REF_RGD_ID:6483830
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15181847
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:735727	D	RGD:9068941	20200609	RGD			PMID:19628656|REF_RGD_ID:6483809
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9004283	Transplant Rejection		ISO	RGD:735727	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney (human)	PMID:14531820|REF_RGD_ID:7241140
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9004389	Bone Neoplasms		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16475674
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9004484	Sepsis	disease_progression	ISO	RGD:735727	D	RGD:9068941	20200609	RGD		Pneumonia associated sepsis	PMID:21219633|REF_RGD_ID:4891938
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14644129|PMID:26284488
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:3343	D	RGD:9068941	20200609	RGD		associated with Endotoxemia	PMID:21473829|REF_RGD_ID:5147760
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:3343	D	RGD:9068941	20200609	RGD			PMID:23324284|REF_RGD_ID:7241552
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:733174	D	RGD:9068941	20200609	RGD			PMID:15631996|REF_RGD_ID:7241205
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9004816	Jaw Cysts	severity	ISO	RGD:735727	D	RGD:9068941	20200609	RGD		protein:increased expression:cyst, liquid (human)	PMID:20646237|REF_RGD_ID:6484123
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16430655
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9005172	Lung Neoplasms	severity	ISO	RGD:735727	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor, cytoplasm (human)	PMID:2054790|REF_RGD_ID:7241261
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9005233	Experimental Mammary Neoplasms	disease_progression	ISO	RGD:3343	D	RGD:9068941	20200609	RGD			PMID:18052026|REF_RGD_ID:6484140
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9005372	Inflammation		ISO	RGD:733174	D	RGD:9068941	20200609	RGD			PMID:20466854|REF_RGD_ID:6484127
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9005372	Inflammation		ISO	RGD:735727	D	RGD:9068941	20200609	RGD			PMID:20646237|REF_RGD_ID:6484123
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9005741	Intracranial Embolism and Thrombosis		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9403446
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9006024	Hypotension		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10392865
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9006474	Arterial Occlusive Diseases		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15557913|PMID:1713745|PMID:9181759|PMID:9731615
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9007090	Experimental Seizures		ISO	RGD:733174	D	RGD:9068941	20241214	RGD			PMID:22293605|REF_RGD_ID:6483790
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9007356	Eczema		ISO	RGD:735727	D	RGD:9068941	20200609	RGD			PMID:19416247|REF_RGD_ID:6483821
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:735727	D	RGD:9068941	20200609	RGD		DNA:snp:3' utr:g.4065C>T (human)	PMID:15356878|REF_RGD_ID:7241146
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9007480	Hyperoxia		ISO	RGD:3343	D	RGD:9068941	20200609	RGD		mRNA, protein:altered expression:lung (rat)	PMID:19099788|REF_RGD_ID:4143526
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:3343	D	RGD:9068941	20200609	RGD		mRNA:increased expression:optic nerve (rat)	PMID:20798533|REF_RGD_ID:6483802
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9008217	Hemorrhage		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15502123|PMID:15557913|PMID:8225663|PMID:9266785
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9452	steatotic liver disease		ISO	RGD:733174	D	RGD:9068941	20240425	MouseDO		OMIM:228100	
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9471	meningitis		ISO	RGD:735727	D	RGD:9068941	20200609	RGD		associated with Angiostrongyliasis	PMID:20584616|REF_RGD_ID:6484124
8776154	Plau	plasminogen activator, urokinase	gene	DOID:9477	pulmonary embolism		ISO	RGD:735727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:1098216|PMID:11041470|PMID:4430106|PMID:4884574|PMID:9038699|PMID:9266785
8776154	Plau	plasminogen activator, urokinase	gene	DOID:988	mitral valve prolapse		ISO	RGD:735727	D	RGD:9068941	20200609	RGD			PMID:15262029|REF_RGD_ID:1580896
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:10283	prostate cancer		ISO	RGD:1316768	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:10283	prostate cancer		ISO	RGD:1316768	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:10534	stomach cancer		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:1115	sarcoma		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:11830	myopia		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:1247	blood coagulation disease		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:12849	autistic disorder		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:1324	lung cancer		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:2030	anxiety disorder		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:2661	myoepithelioma		ISO	RGD:1316768	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:3275	thymoma		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:4362	cervical cancer		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:5041	esophageal cancer		ISO	RGD:1316768	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1316768	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Mitochondrial diseases	PMID:30201738
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:7998	hyperthyroidism		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:9007661	Dwarfism		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:9008421	Epistaxis		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	
8776173	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:9256	colorectal cancer		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8776199	Rtf1	RTF1 homolog, Paf1/RNA polymerase II complex component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8776199	Rtf1	RTF1 homolog, Paf1/RNA polymerase II complex component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8776199	Rtf1	RTF1 homolog, Paf1/RNA polymerase II complex component	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1321685	D	RGD:9068941	20230914	MouseDO			
8776199	Rtf1	RTF1 homolog, Paf1/RNA polymerase II complex component	gene	DOID:1909	melanoma		ISO	RGD:1321684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8776199	Rtf1	RTF1 homolog, Paf1/RNA polymerase II complex component	gene	DOID:3275	thymoma		ISO	RGD:1321684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8776199	Rtf1	RTF1 homolog, Paf1/RNA polymerase II complex component	gene	DOID:5041	esophageal cancer		ISO	RGD:1321684	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8776199	Rtf1	RTF1 homolog, Paf1/RNA polymerase II complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776199	Rtf1	RTF1 homolog, Paf1/RNA polymerase II complex component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8776199	Rtf1	RTF1 homolog, Paf1/RNA polymerase II complex component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8776221	Gbgt1	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8776221	Gbgt1	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group)	gene	DOID:0080600	COVID-19		ISO	RGD:1351614	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8776221	Gbgt1	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group)	gene	DOID:10534	stomach cancer		ISO	RGD:1351614	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8776221	Gbgt1	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group)	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8776221	Gbgt1	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group)	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8776221	Gbgt1	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776221	Gbgt1	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group)	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8776221	Gbgt1	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8776239	Mdk	midkine	gene	DOID:1324	lung cancer		ISO	RGD:69142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8776239	Mdk	midkine	gene	DOID:1790	malignant mesothelioma		ISO	RGD:69142	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:23056237
8776239	Mdk	midkine	gene	DOID:2030	anxiety disorder		ISO	RGD:69142	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19217924
8776239	Mdk	midkine	gene	DOID:2316	brain ischemia		ISO	RGD:69142	D	RGD:9068941	20200609	RGD			PMID:12127679|REF_RGD_ID:1582476
8776239	Mdk	midkine	gene	DOID:289	endometriosis		ISO	RGD:69142	D	RGD:9068941	20200609	RGD			PMID:15734764|REF_RGD_ID:1581202
8776239	Mdk	midkine	gene	DOID:3070	high grade glioma		ISO	RGD:69142	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21233844
8776239	Mdk	midkine	gene	DOID:3454	brain infarction		ISO	RGD:69073	D	RGD:9068941	20200609	RGD			PMID:15450683|REF_RGD_ID:1582478
8776239	Mdk	midkine	gene	DOID:4248	coronary stenosis		ISO	RGD:69073	D	RGD:9068941	20200609	RGD			PMID:10683378|REF_RGD_ID:1299187
8776239	Mdk	midkine	gene	DOID:4362	cervical cancer		ISO	RGD:69142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8776239	Mdk	midkine	gene	DOID:5419	schizophrenia		ISO	RGD:69143	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
8776239	Mdk	midkine	gene	DOID:5844	myocardial infarction		ISO	RGD:69073	D	RGD:9068941	20200609	RGD			PMID:9568069|REF_RGD_ID:1582488
8776239	Mdk	midkine	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:69143	D	RGD:9068941	20200609	RGD			PMID:15146411|REF_RGD_ID:1581200
8776239	Mdk	midkine	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69142	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17607302
8776239	Mdk	midkine	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:69073	D	RGD:9068941	20200609	RGD			PMID:9814819|REF_RGD_ID:9831448
8776239	Mdk	midkine	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:69143	D	RGD:9068941	20200609	RGD			PMID:15780085|REF_RGD_ID:1582475
8776239	Mdk	midkine	gene	DOID:9008023	Memory Disorders		ISO	RGD:69142	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19217924
8776248	Man1a2	mannosidase alpha class 1A member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8776248	Man1a2	mannosidase alpha class 1A member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8776248	Man1a2	mannosidase alpha class 1A member 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8776248	Man1a2	mannosidase alpha class 1A member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8776248	Man1a2	mannosidase alpha class 1A member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776248	Man1a2	mannosidase alpha class 1A member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8776248	Man1a2	mannosidase alpha class 1A member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8776248	Man1a2	mannosidase alpha class 1A member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8776268	Tmem171	transmembrane protein 171	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8776268	Tmem171	transmembrane protein 171	gene	DOID:10534	stomach cancer		ISO	RGD:1606157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8776268	Tmem171	transmembrane protein 171	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8776268	Tmem171	transmembrane protein 171	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776268	Tmem171	transmembrane protein 171	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8776278	Ccdc65	coiled-coil domain containing 65	gene	DOID:0110611	primary ciliary dyskinesia 27		ISO	RGD:1604557	D	RGD:7240710	20180130	OMIM			
8776278	Ccdc65	coiled-coil domain containing 65	gene	DOID:0110611	primary ciliary dyskinesia 27		ISO	RGD:1604557	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 27, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 27 | ClinVar Annotator: match by term: Primary ciliary dyskinesia 27	PMID:16199547|PMID:17576681|PMID:23991085|PMID:24033266|PMID:24094744|PMID:25741868|PMID:28492532|PMID:9536098
8776278	Ccdc65	coiled-coil domain containing 65	gene	DOID:0110622	primary ciliary dyskinesia 9		ISO	RGD:1604557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis	PMID:23991085|PMID:24094744|PMID:25741868|PMID:28492532
8776278	Ccdc65	coiled-coil domain containing 65	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8776278	Ccdc65	coiled-coil domain containing 65	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8776278	Ccdc65	coiled-coil domain containing 65	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776278	Ccdc65	coiled-coil domain containing 65	gene	DOID:630	genetic disease		ISO	RGD:1604557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8776278	Ccdc65	coiled-coil domain containing 65	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8776278	Ccdc65	coiled-coil domain containing 65	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8776278	Ccdc65	coiled-coil domain containing 65	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1604557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:25741868
8776291	Crybb3	crystallin beta B3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8776291	Crybb3	crystallin beta B3	gene	DOID:0110268	cataract 22 multiple types		ISO	RGD:733594	D	RGD:7240710	20180130	OMIM			
8776291	Crybb3	crystallin beta B3	gene	DOID:0110268	cataract 22 multiple types		ISO	RGD:733594	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CRYBB3-related disorder | ClinVar Annotator: match by term: Cataract 22 multiple types | ClinVar Annotator: match by term: cataract 22 multiple types	PMID:19182255|PMID:24940039|PMID:25640679|PMID:25741868|PMID:26694549|PMID:27307692|PMID:28492532|PMID:32830442|PMID:33510601|PMID:33923544|PMID:34014271|PMID:34356085
8776291	Crybb3	crystallin beta B3	gene	DOID:10534	stomach cancer		ISO	RGD:733594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
8776291	Crybb3	crystallin beta B3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8776291	Crybb3	crystallin beta B3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8776291	Crybb3	crystallin beta B3	gene	DOID:5041	esophageal cancer		ISO	RGD:733594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8776291	Crybb3	crystallin beta B3	gene	DOID:630	genetic disease		ISO	RGD:733594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8776291	Crybb3	crystallin beta B3	gene	DOID:83	cataract		ISO	RGD:733594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	
8776302	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8776302	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8776302	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:10534	stomach cancer		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8776302	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:1115	sarcoma		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
8776302	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315942	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive	PMID:17576681|PMID:28492532|PMID:9536098
8776302	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315942	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17576681|PMID:28492532|PMID:9536098
8776302	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315942	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8776302	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315942	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:35862026|PMID:9536098
8776302	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:1909	melanoma		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8776302	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8776302	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:4362	cervical cancer		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8776302	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8776302	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776302	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8776302	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8776302	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8776302	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8776326	Dcaf11	DDB1 and CUL4 associated factor 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8776326	Dcaf11	DDB1 and CUL4 associated factor 11	gene	DOID:10534	stomach cancer		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8776326	Dcaf11	DDB1 and CUL4 associated factor 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8776326	Dcaf11	DDB1 and CUL4 associated factor 11	gene	DOID:1909	melanoma		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8776326	Dcaf11	DDB1 and CUL4 associated factor 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8776326	Dcaf11	DDB1 and CUL4 associated factor 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8776326	Dcaf11	DDB1 and CUL4 associated factor 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776326	Dcaf11	DDB1 and CUL4 associated factor 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8776326	Dcaf11	DDB1 and CUL4 associated factor 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8776326	Dcaf11	DDB1 and CUL4 associated factor 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8776368	Chrng	cholinergic receptor nicotinic gamma subunit	gene	DOID:0060249	scoliosis		ISO	RGD:732695	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:25741868|PMID:25957469|PMID:26578207|PMID:27245440|PMID:28492532|PMID:33060286|PMID:34440395
8776368	Chrng	cholinergic receptor nicotinic gamma subunit	gene	DOID:0080006	bone development disease		ISO	RGD:732695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16826531
8776368	Chrng	cholinergic receptor nicotinic gamma subunit	gene	DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome		ISO	RGD:732695	D	RGD:7240710	20180130	OMIM			
8776368	Chrng	cholinergic receptor nicotinic gamma subunit	gene	DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome		ISO	RGD:732695	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHRNG-associated hypo-akinesia disorder of prenatal onset | ClinVar Annotator: match by term: CHRNG-related disorder | ClinVar Annotator: match by term: ESCOBAR SYNDROME | ClinVar Annotator: match by term: PTERYGIUM UNIVERSALE | ClinVar Annotator: match by term: Pterygium colli syndrome | ClinVar Annotator: match by term: Pterygium universale	PMID:16199547|PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:24319099|PMID:25411939|PMID:25608830|PMID:25741868|PMID:25957469|PMID:26578207|PMID:26752647|PMID:27245440|PMID:28492532|PMID:29054425|PMID:30868735|PMID:31230720|PMID:32587836|PMID:32901917|PMID:33060286|PMID:34008892|PMID:34440395|PMID:37853563
8776368	Chrng	cholinergic receptor nicotinic gamma subunit	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:732695	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:25741868|PMID:25957469|PMID:26578207|PMID:27245440|PMID:28492532|PMID:33060286|PMID:34440395
8776368	Chrng	cholinergic receptor nicotinic gamma subunit	gene	DOID:0081322	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B		ISO	RGD:732695	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome	PMID:16199547|PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:24319099|PMID:25741868|PMID:25957469|PMID:26578207|PMID:26752647|PMID:27245440|PMID:28492532|PMID:29054425|PMID:30868735|PMID:31230720|PMID:32901917|PMID:33060286|PMID:34008892|PMID:34440395|PMID:37853563
8776368	Chrng	cholinergic receptor nicotinic gamma subunit	gene	DOID:10908	hydrocephalus		ISO	RGD:732695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:16826520|PMID:25741868|PMID:28492532
8776368	Chrng	cholinergic receptor nicotinic gamma subunit	gene	DOID:11383	cryptorchidism		ISO	RGD:732695	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:25741868|PMID:25957469|PMID:26578207|PMID:27245440|PMID:28492532|PMID:33060286|PMID:34440395
8776368	Chrng	cholinergic receptor nicotinic gamma subunit	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:732695	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:16826520
8776368	Chrng	cholinergic receptor nicotinic gamma subunit	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8776368	Chrng	cholinergic receptor nicotinic gamma subunit	gene	DOID:4667	kyphosis		ISO	RGD:732695	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:25741868|PMID:25957469|PMID:26578207|PMID:27245440|PMID:28492532|PMID:33060286|PMID:34440395
8776368	Chrng	cholinergic receptor nicotinic gamma subunit	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
8776368	Chrng	cholinergic receptor nicotinic gamma subunit	gene	DOID:630	genetic disease		ISO	RGD:732695	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8776368	Chrng	cholinergic receptor nicotinic gamma subunit	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:732695	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:23261301|PMID:25741868|PMID:28492532
8776368	Chrng	cholinergic receptor nicotinic gamma subunit	gene	DOID:870	neuropathy		ISO	RGD:732695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:16826520|PMID:25741868|PMID:26752647|PMID:28492532|PMID:31230720|PMID:37853563
8776368	Chrng	cholinergic receptor nicotinic gamma subunit	gene	DOID:9005962	Multiple Pterygium Syndrome, Lethal Type		ISO	RGD:732695	D	RGD:7240710	20180130	OMIM			
8776368	Chrng	cholinergic receptor nicotinic gamma subunit	gene	DOID:9005962	Multiple Pterygium Syndrome, Lethal Type		ISO	RGD:732695	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHRNG-related condition | ClinVar Annotator: match by term: Lethal multiple pterygium syndrome	PMID:16199547|PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:24319099|PMID:25741868|PMID:25957469|PMID:26578207|PMID:26752647|PMID:27245440|PMID:28492532|PMID:29054425|PMID:30868735|PMID:31230720|PMID:32536119|PMID:32901917|PMID:33060286|PMID:34008892|PMID:34440395|PMID:37853563
8776368	Chrng	cholinergic receptor nicotinic gamma subunit	gene	DOID:9007573	Flatfoot		ISO	RGD:732695	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Talipes calcaneovalgus	PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:25741868|PMID:25957469|PMID:26578207|PMID:27245440|PMID:28492532|PMID:33060286|PMID:34440395
8776401	Vgll4	vestigial like family member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8776401	Vgll4	vestigial like family member 4	gene	DOID:1115	sarcoma		ISO	RGD:1323223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8776401	Vgll4	vestigial like family member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:0050685	small cell carcinoma		ISO	RGD:1348890	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24658001|PMID:24658002|PMID:24658004|PMID:26343384
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:0050902	medulloblastoma		ISO	RGD:1348890	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA	PMID:21163964|PMID:22722829|PMID:22820256|PMID:22832583|PMID:23276717|PMID:23432644|PMID:23698369|PMID:24336570|PMID:26842758|PMID:27579614|PMID:27993330|PMID:28492532|PMID:28726821|PMID:29992558|PMID:30858614|PMID:31018240|PMID:31996670|PMID:33056981|PMID:33144586|PMID:33741928|PMID:33960520|PMID:36813544|PMID:37328659
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:0060260	ptosis		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:0060997	rhabdoid tumor predisposition syndrome 2		ISO	RGD:1348890	D	RGD:7240710	20180130	OMIM			
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:0060997	rhabdoid tumor predisposition syndrome 2		ISO	RGD:1348890	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RHABDOID TUMOR PREDISPOSITION SYNDROME 2 | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:20137775|PMID:21163964|PMID:22426308|PMID:22722829|PMID:22820256|PMID:22832583|PMID:23432644|PMID:23556151|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:25060813|PMID:25168959|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25372392|PMID:25533962|PMID:25640679|PMID:25741868|PMID:26061751|PMID:26230154|PMID:26343384|PMID:26467025|PMID:26552009|PMID:26564006|PMID:27760138|PMID:27930734|PMID:27993330|PMID:28135719|PMID:28481359|PMID:28492532|PMID:28518168|PMID:28608987|PMID:28726821|PMID:28726861|PMID:28873162|PMID:28990276|PMID:29051493|PMID:29095814|PMID:29102090|PMID:29271065|PMID:29338072|PMID:29641532|PMID:29706634|PMID:29992558|PMID:30029678|PMID:30093976|PMID:30111351|PMID:30459321|PMID:30662543|PMID:30973214|PMID:31018240|PMID:31190001|PMID:31278258|PMID:31419753|PMID:31530938|PMID:31785789|PMID:31819260|PMID:31874108|PMID:32369273|PMID:32382648|PMID:32461654|PMID:32686290|PMID:33056981|PMID:33057194|PMID:33144586|PMID:33223419|PMID:33258288|PMID:33799280|PMID:33907931|PMID:34642211|PMID:34813034|PMID:34906459|PMID:35047860|PMID:35101336|PMID:35468861|PMID:35579625|PMID:35775118|PMID:35982159|PMID:36474027|PMID:36813544|PMID:37399313|PMID:37430472|PMID:37500730|PMID:38750555|PMID:39126233|PMID:41568967|PMID:8269278|PMID:9536098
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:0070042	Coffin-Siris syndrome 1		ISO	RGD:1348890	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome 1	PMID:25741868
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:0070046	Coffin-Siris syndrome 4		ISO	RGD:1348890	D	RGD:7240710	20180130	OMIM			
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:0070046	Coffin-Siris syndrome 4		ISO	RGD:1348890	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy | ClinVar Annotator: match by term: SMARCA4-related condition	PMID:17576681|PMID:18414213|PMID:21163964|PMID:22722829|PMID:22820256|PMID:22832583|PMID:23432644|PMID:23525077|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24755471|PMID:25168959|PMID:25231023|PMID:25372392|PMID:25741868|PMID:26467025|PMID:27149842|PMID:27701467|PMID:27760138|PMID:27930734|PMID:27993330|PMID:28135719|PMID:28492532|PMID:28518168|PMID:28726821|PMID:28873162|PMID:29051493|PMID:29095814|PMID:29338072|PMID:29641532|PMID:30111351|PMID:30459321|PMID:31216405|PMID:31530938|PMID:31819260|PMID:31874108|PMID:32461654|PMID:32686290|PMID:33057194|PMID:33680622|PMID:34906459|PMID:34906496|PMID:35047860|PMID:35101336|PMID:35468861|PMID:35982159|PMID:36474027|PMID:37500730|PMID:38750555|PMID:39085968|PMID:9536098
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:21163964|PMID:22722829|PMID:22820256|PMID:22832583|PMID:23432644|PMID:25741868|PMID:27993330|PMID:28492532|PMID:28726821|PMID:29992558|PMID:31018240|PMID:33056981|PMID:33144586|PMID:36813544
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:0080705	medulloblastoma SHH activated and TP53 wild-type		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated and TP53 wild-type	PMID:21163964|PMID:22722829|PMID:22820256|PMID:22832583|PMID:23432644|PMID:27065321|PMID:27993330|PMID:28726821
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:0080706	medulloblastoma non-WNT/non-SHH		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH	PMID:21163964|PMID:22722829|PMID:22820256|PMID:22832583|PMID:23432644|PMID:27993330|PMID:28726821|PMID:33144586
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:0080707	medulloblastoma non-WNT/non-SHH group 3		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 3	PMID:21163964|PMID:22722829|PMID:22820256|PMID:22832583|PMID:23432644|PMID:25741868|PMID:27993330|PMID:28492532|PMID:28726821|PMID:29323272|PMID:33144586
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:0080708	medulloblastoma non-WNT/non-SHH group 4		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 4	PMID:27993330|PMID:28726821|PMID:31799776
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:0080833	laryngomalacia		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia | ClinVar Annotator: match by term: Laryngomalacia	PMID:21163964|PMID:22722829|PMID:22820256|PMID:22832583|PMID:23432644|PMID:25741868|PMID:27479843|PMID:27993330|PMID:28726821
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:27993330|PMID:30333046
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:28492532|PMID:31530938
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:0111806	syndromic microphthalmia 5		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome	PMID:24658001|PMID:24658002|PMID:25741868|PMID:28492532|PMID:28873162|PMID:41568967
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1348890	D	RGD:9068941	20200609	RGD			PMID:17075831|REF_RGD_ID:2302527
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:10283	prostate cancer	no_association	ISO	RGD:1348890	D	RGD:9068941	20200609	RGD		absence of somatic mutations in the samples used	PMID:12684665|REF_RGD_ID:2302528
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:1059	intellectual disability		ISO	RGD:1348890	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26467025|PMID:28492532
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:1059	intellectual disability		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:22426308|PMID:25741868|PMID:28492532|PMID:29095814|PMID:31530938|PMID:32686290|PMID:34813034
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:10907	microcephaly		ISO	RGD:1348890	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:32686290
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:1115	sarcoma		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:11383	cryptorchidism		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:11830	myopia		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:12849	autistic disorder		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868|PMID:28492532|PMID:37500730
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:1324	lung cancer		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:13435463	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia	PMID:1998642|PMID:25741868
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:29323272|PMID:35101336
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:1612	breast cancer		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:1657	ventricular septal defect		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28492532|PMID:37500730
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:28492532|PMID:37500730
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:1909	melanoma		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:1925	Coffin-Siris syndrome		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome	PMID:18414213|PMID:25372392|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31874108|PMID:38750555
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:1969	cerebral palsy		ISO	RGD:1348890	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:28492532|PMID:34813034
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:25741868
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:3070	high grade glioma		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:3275	thymoma		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1348890	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:28973294
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:3459	breast carcinoma		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:21163964|PMID:22722829|PMID:22820256|PMID:22832583|PMID:23432644|PMID:25741868|PMID:27993330|PMID:28492532|PMID:28726821
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868|PMID:38177409
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:3883	Lynch syndrome		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:25741868|PMID:28492532|PMID:29758562
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:3883	Lynch syndrome		ISO	RGD:1348890	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:25741868|PMID:26467025|PMID:28492532
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1348890	D	RGD:9068941	20200609	RGD			PMID:15287030|REF_RGD_ID:2302526
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal cortex carcinoma	
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:4051	alveolar rhabdomyosarcoma		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma	PMID:21163964|PMID:22722829|PMID:22820256|PMID:22832583|PMID:23432644|PMID:25768946|PMID:27993330|PMID:28726821|PMID:33144586|PMID:33741928|PMID:35094009
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:480	movement disease		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:540	strabismus		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:38177409
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1348890	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26343384
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:543	dystonia		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonia	PMID:25741868|PMID:29706634
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1348890	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28671688
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:583	hemolytic anemia		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia	PMID:22426308|PMID:25741868
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:6179	ovarian small cell carcinoma		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Small cell carcinoma of the ovary, hypercalcemic type	PMID:25741868|PMID:28492532
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868|PMID:28492532|PMID:37500730
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:674	cleft palate		ISO	RGD:1348890	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:22426308|PMID:25741868|PMID:28973083|PMID:32686290|PMID:34930489|PMID:35796094
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:769	neuroblastoma		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuroblastoma	PMID:25741868|PMID:27993330|PMID:29992558|PMID:31018240|PMID:33056981|PMID:36813544
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:29095814
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:8541	Sezary's disease		ISO	RGD:1348890	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26551667
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:8584	Burkitt lymphoma		ISO	RGD:1348890	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143597
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9001031	Retrognathia		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:28492532|PMID:29051493
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868|PMID:28492532|PMID:37500730
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:621728	D	RGD:9068941	20250904	RGD			PMID:25972460|REF_RGD_ID:626189123
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal neoplasm	PMID:25741868|PMID:28492532
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prostate neoplasm	PMID:25741868|PMID:28492532
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9002362	Hyperkinesis		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkinetic movements	PMID:25741868
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1348890	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Ovarian neoplasm	PMID:25741868|PMID:28492532
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9003132	Sialorrhea		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868|PMID:29095814
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:25741868|PMID:29095814
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348890	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9004507	Hirsutism		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868|PMID:38177409
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9004538	Hearing Loss		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:38177409
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:25741868|PMID:29095814
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:23929686|PMID:25741868|PMID:28492532|PMID:29051493
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1348890	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27422367
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:621728	D	RGD:9068941	20200609	RGD			PMID:23853776|REF_RGD_ID:9586347
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9006332	Vascular Calcification		ISO	RGD:621728	D	RGD:9068941	20250814	RGD		associated with end stage renal disease;mRNA,protein:increased expression:artery	PMID:30973285|REF_RGD_ID:625787427
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348890	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15756273|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23698369|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24448499|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25168959|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26343384|PMID:26353884|PMID:26467025|PMID:26552009|PMID:26556299|PMID:26564006|PMID:26580448|PMID:26744134|PMID:26822237|PMID:26842758|PMID:26901136|PMID:26942101|PMID:27701467|PMID:27854218|PMID:27866340|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28454995|PMID:28492532|PMID:28518168|PMID:28608987|PMID:28873162|PMID:28875981|PMID:28990276|PMID:29102090|PMID:29271065|PMID:29338072|PMID:29446248|PMID:29641532|PMID:29706634|PMID:29758562|PMID:30029678|PMID:30093976|PMID:30111351|PMID:30662543|PMID:30973214|PMID:31097095|PMID:31130284|PMID:31190001|PMID:31216405|PMID:31278258|PMID:31419753|PMID:31470906|PMID:31785789|PMID:31827798|PMID:31874108|PMID:31954538|PMID:32369273|PMID:32376391|PMID:32461654|PMID:32575483|PMID:33558524|PMID:33680622|PMID:34646395|PMID:34813034|PMID:34906459|PMID:34970085|PMID:35047860|PMID:35468861|PMID:35982159|PMID:36474027|PMID:37399313|PMID:37460928|PMID:8269278|PMID:9536098
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348890	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15756273|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23698369|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24448499|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25168959|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26343384|PMID:26353884|PMID:26467025|PMID:26552009|PMID:26556299|PMID:26564006|PMID:26580448|PMID:26744134|PMID:26822237|PMID:26842758|PMID:26901136|PMID:26942101|PMID:27701467|PMID:27866340|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28454995|PMID:28492532|PMID:28518168|PMID:28608987|PMID:28873162|PMID:28875981|PMID:28990276|PMID:29102090|PMID:29271065|PMID:29338072|PMID:29446248|PMID:29641532|PMID:29706634|PMID:29758562|PMID:30029678|PMID:30093976|PMID:30111351|PMID:30662543|PMID:30973214|PMID:31097095|PMID:31130284|PMID:31190001|PMID:31216405|PMID:31278258|PMID:31419753|PMID:31470906|PMID:31785789|PMID:31827798|PMID:31874108|PMID:31954538|PMID:32369273|PMID:32376391|PMID:32461654|PMID:32575483|PMID:33558524|PMID:33680622|PMID:34646395|PMID:34813034|PMID:34906459|PMID:34970085|PMID:35047860|PMID:35468861|PMID:35982159|PMID:36474027|PMID:37399313|PMID:37460928|PMID:8269278|PMID:9536098
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348890	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15756273|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:20137775|PMID:21280140|PMID:21566516|PMID:22426308|PMID:23698369|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24448499|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25168959|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26343384|PMID:26353884|PMID:26467025|PMID:26552009|PMID:26556299|PMID:26564006|PMID:26580448|PMID:26744134|PMID:26822237|PMID:26842758|PMID:26901136|PMID:26942101|PMID:27701467|PMID:27760138|PMID:27866340|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28454995|PMID:28492532|PMID:28518168|PMID:28608987|PMID:28873162|PMID:28875981|PMID:28973083|PMID:28990276|PMID:29095814|PMID:29102090|PMID:29271065|PMID:29338072|PMID:29446248|PMID:29641532|PMID:29706634|PMID:29758562|PMID:30029678|PMID:30093976|PMID:30111351|PMID:30662543|PMID:30973214|PMID:31018240|PMID:31097095|PMID:31130284|PMID:31190001|PMID:31216405|PMID:31278258|PMID:31419753|PMID:31470906|PMID:31785789|PMID:31819260|PMID:31827798|PMID:31874108|PMID:31954538|PMID:32369273|PMID:32376391|PMID:32382648|PMID:32461654|PMID:32575483|PMID:32686290|PMID:33020650|PMID:33057194|PMID:33144586|PMID:33461977|PMID:33558524|PMID:33680622|PMID:34593967|PMID:34646395|PMID:34813034|PMID:34906459|PMID:34930489|PMID:34970085|PMID:35047860|PMID:35468861|PMID:35796094|PMID:35982159|PMID:36474027|PMID:37399313|PMID:37460928|PMID:37500730|PMID:38136308|PMID:8269278|PMID:9536098
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348890	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:18414213|PMID:20137775|PMID:21163964|PMID:21566516|PMID:22722829|PMID:22820256|PMID:22832583|PMID:23432644|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:25058500|PMID:25060813|PMID:25168959|PMID:25231023|PMID:25372392|PMID:25741868|PMID:25768946|PMID:26343384|PMID:26467025|PMID:26556299|PMID:26564006|PMID:27760138|PMID:27866340|PMID:27930734|PMID:27993330|PMID:28454995|PMID:28492532|PMID:28518168|PMID:28608987|PMID:28726821|PMID:28873162|PMID:29051493|PMID:29095814|PMID:29102090|PMID:29271065|PMID:29338072|PMID:29641532|PMID:29992558|PMID:30029678|PMID:30111351|PMID:30333046|PMID:31018240|PMID:31130284|PMID:31819260|PMID:31874108|PMID:32461654|PMID:32686290|PMID:33056981|PMID:33057194|PMID:33144586|PMID:33907931|PMID:34813034|PMID:34906459|PMID:34970085|PMID:35047860|PMID:35094009|PMID:35101336|PMID:35468861|PMID:35982159|PMID:36474027|PMID:36813544|PMID:37500730|PMID:38750555|PMID:9536098
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	PMID:25741868|PMID:29095814
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9007573	Flatfoot		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:38177409
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532|PMID:29095814|PMID:32686290
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9007920	Thoracic Neoplasms		ISO	RGD:1348890	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26343384
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:29095814|PMID:31530938
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:10601012|PMID:22426308|PMID:23637025|PMID:25741868
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1348890	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nasopharyngeal carcinoma	PMID:21163964|PMID:22722829|PMID:22820256|PMID:22832583|PMID:23432644|PMID:27993330|PMID:28726821|PMID:33144586|PMID:33960520
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9565	dextrocardia		ISO	RGD:1348890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dextrocardia	PMID:25741868|PMID:38177409
8776417	Smarca4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	gene	DOID:9975	cocaine dependence	ameliorates	ISO	RGD:621728	D	RGD:9068941	20250301	RGD			PMID:27422367|REF_RGD_ID:597830063
8776464	Mylk2	myosin light chain kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
8776464	Mylk2	myosin light chain kinase 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532|PMID:29247119
8776464	Mylk2	myosin light chain kinase 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:737455	D	RGD:7240710	20180130	OMIM			
8776464	Mylk2	myosin light chain kinase 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:737455	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:11733062|PMID:17576681|PMID:22995991|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29247119|PMID:31333075|PMID:31568572|PMID:9536098
8776464	Mylk2	myosin light chain kinase 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:737455	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:11733062|PMID:17576681|PMID:22995991|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28704380|PMID:28798025|PMID:29247119|PMID:29915097|PMID:31333075|PMID:31568572|PMID:9536098
8776464	Mylk2	myosin light chain kinase 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:737455	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis | ClinVar Annotator: match by term: MYLK2-related condition	PMID:11733062|PMID:16199547|PMID:17576681|PMID:22995991|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28704380|PMID:28798025|PMID:29247119|PMID:29915097|PMID:31333075|PMID:31376648|PMID:31568572|PMID:34426522|PMID:9536098
8776464	Mylk2	myosin light chain kinase 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:737455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis | ClinVar Annotator: match by term: MYLK2-related condition	PMID:11733062|PMID:16199547|PMID:17576681|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532|PMID:28704380|PMID:28798025|PMID:29247119|PMID:29915097|PMID:31376648|PMID:34426522|PMID:35352813|PMID:9536098
8776464	Mylk2	myosin light chain kinase 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:737455	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis | ClinVar Annotator: match by term: MYLK2-related condition	PMID:11733062|PMID:16199547|PMID:17576681|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532|PMID:28704380|PMID:28798025|PMID:29247119|PMID:29915097|PMID:31376648|PMID:34426522|PMID:35352813|PMID:9536098
8776464	Mylk2	myosin light chain kinase 2	gene	DOID:0110445	dilated cardiomyopathy 1KK		ISO	RGD:737455	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK	PMID:25741868|PMID:28492532
8776464	Mylk2	myosin light chain kinase 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:737455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532
8776464	Mylk2	myosin light chain kinase 2	gene	DOID:1287	cardiovascular system disease		ISO	RGD:737455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532
8776464	Mylk2	myosin light chain kinase 2	gene	DOID:14499	Fabry disease		ISO	RGD:737455	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Fabry disease	PMID:28492532
8776464	Mylk2	myosin light chain kinase 2	gene	DOID:3275	thymoma		ISO	RGD:737455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8776464	Mylk2	myosin light chain kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:737455	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8776464	Mylk2	myosin light chain kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776464	Mylk2	myosin light chain kinase 2	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:737455	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572
8776464	Mylk2	myosin light chain kinase 2	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:737455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:25741868|PMID:28492532
8776464	Mylk2	myosin light chain kinase 2	gene	DOID:9006945	Diabetic Cardiomyopathies	treatment	ISO	RGD:620934	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:9005973|REF_RGD_ID:1580244
8776464	Mylk2	myosin light chain kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8776464	Mylk2	myosin light chain kinase 2	gene	DOID:9007820	Sudden Death		ISO	RGD:737455	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death	PMID:25741868|PMID:28492532
8776481	Myom1	myomesin 1	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1346217	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy	PMID:28492532
8776481	Myom1	myomesin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8776481	Myom1	myomesin 1	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1346217	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532
8776481	Myom1	myomesin 1	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1346217	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:24033266|PMID:28492532
8776481	Myom1	myomesin 1	gene	DOID:0110315	hypertrophic cardiomyopathy 9		ISO	RGD:1346217	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9	PMID:25741868
8776481	Myom1	myomesin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8776481	Myom1	myomesin 1	gene	DOID:1115	sarcoma		ISO	RGD:1346217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8776481	Myom1	myomesin 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1346217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:21256114|PMID:22406018|PMID:24033266|PMID:25741868|PMID:26656175|PMID:27600940|PMID:27662471|PMID:28323875|PMID:28492532|PMID:28986455|PMID:28991257|PMID:32368696|PMID:33658040|PMID:35885997|PMID:9536098
8776481	Myom1	myomesin 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1346217	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:24033266|PMID:28492532
8776481	Myom1	myomesin 1	gene	DOID:3070	high grade glioma		ISO	RGD:1346217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8776481	Myom1	myomesin 1	gene	DOID:3275	thymoma		ISO	RGD:1346217	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8776481	Myom1	myomesin 1	gene	DOID:409	liver disease		ISO	RGD:1346217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: liver disease	PMID:25741868|PMID:28492532
8776481	Myom1	myomesin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346217	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8776481	Myom1	myomesin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346217	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8776481	Myom1	myomesin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776481	Myom1	myomesin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8776481	Myom1	myomesin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8776481	Myom1	myomesin 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1346217	D	RGD:8554872	20240716	ClinVar		ClinVar Annotator: match by term: MYOM1-related non-immune fetal hydrops | ClinVar Annotator: match by term: Non-Immune hydrops fetalis	PMID:25741868|PMID:26036949|PMID:28492532|PMID:31130284
8776538	Lrrc14b	leucine rich repeat containing 14B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:3418715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8776538	Lrrc14b	leucine rich repeat containing 14B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:3418715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8776549	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8776549	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8776549	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8776549	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8776549	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8776549	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8776549	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8776549	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:440	neuromuscular disease		ISO	RGD:1605937	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
8776549	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8776549	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605937	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8776549	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776549	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8776549	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:14698291	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
8776549	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8776549	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8776549	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8776549	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8776576	Arhgef17	Rho guanine nucleotide exchange factor 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8776576	Arhgef17	Rho guanine nucleotide exchange factor 17	gene	DOID:10534	stomach cancer		ISO	RGD:1320476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8776576	Arhgef17	Rho guanine nucleotide exchange factor 17	gene	DOID:1115	sarcoma		ISO	RGD:1320476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8776576	Arhgef17	Rho guanine nucleotide exchange factor 17	gene	DOID:1909	melanoma		ISO	RGD:1320476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8776576	Arhgef17	Rho guanine nucleotide exchange factor 17	gene	DOID:3275	thymoma		ISO	RGD:1320476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8776576	Arhgef17	Rho guanine nucleotide exchange factor 17	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8776576	Arhgef17	Rho guanine nucleotide exchange factor 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776576	Arhgef17	Rho guanine nucleotide exchange factor 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8776576	Arhgef17	Rho guanine nucleotide exchange factor 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8776576	Arhgef17	Rho guanine nucleotide exchange factor 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8776602	Sds	serine dehydratase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8776602	Sds	serine dehydratase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8776602	Sds	serine dehydratase	gene	DOID:10534	stomach cancer		ISO	RGD:734053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8776602	Sds	serine dehydratase	gene	DOID:1324	lung cancer		ISO	RGD:734053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8776602	Sds	serine dehydratase	gene	DOID:4362	cervical cancer		ISO	RGD:734053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8776602	Sds	serine dehydratase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776602	Sds	serine dehydratase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8776602	Sds	serine dehydratase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:734053	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1351629	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1551869	D	RGD:9068941	20200609	RGD			PMID:12351651|REF_RGD_ID:1331842
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:1115	sarcoma		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:12987	agranulocytosis		ISO	RGD:1351629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14617031
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:12987	agranulocytosis		ISO	RGD:1351629	D	RGD:9068941	20200609	RGD		associated with schizophrenia;DNA:SNPs:exons, intron:multiple	PMID:14617031|REF_RGD_ID:11073696
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:1324	lung cancer		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:14330	Parkinson's disease	susceptibility	ISO	RGD:1351629	D	RGD:9068941	20200609	RGD		DNA:deletion:promoter: (human)	PMID:18314446|REF_RGD_ID:11073691
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1351629	D	RGD:7240710	20230505	OMIM			
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1351629	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:2773	contact dermatitis		ISO	RGD:1351629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:1351629	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1143684 (human)	PMID:21351093|REF_RGD_ID:11073689
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:4961	bone marrow disease		ISO	RGD:1351629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12351651
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1351629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:9002514	Neointima		ISO	RGD:1303320	D	RGD:9068941	20200609	RGD			PMID:22508052|REF_RGD_ID:11073699
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:9004237	Hyperoxic Lung Injury		ISO	RGD:10473	D	RGD:9068941	20200609	RGD			PMID:16678022|REF_RGD_ID:10769360
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1351629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20861374
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1351629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8776617	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8776633	Prc1	protein regulator of cytokinesis 1	gene	DOID:1115	sarcoma		ISO	RGD:1323372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8776633	Prc1	protein regulator of cytokinesis 1	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1323372	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
8776633	Prc1	protein regulator of cytokinesis 1	gene	DOID:3459	breast carcinoma		ISO	RGD:1323372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast carcinoma	
8776633	Prc1	protein regulator of cytokinesis 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323372	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8776633	Prc1	protein regulator of cytokinesis 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1323372	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043753
8776633	Prc1	protein regulator of cytokinesis 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1323372	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25038754
8776633	Prc1	protein regulator of cytokinesis 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:9850373|RGD:9850374|RGD:9850447|RGD:9850448|RGD:9850449|RGD:9850450|RGD:9850451|RGD:9850452|RGD:9850454|RGD:9850455|RGD:9850456|RGD:9850457|RGD:9850459|RGD:9850460|RGD:9850461|RGD:9850462|RGD:9850463|RGD:9850464|RGD:9850465|RGD:9850466	D	RGD:9068941	20260521	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8776674	Map7	microtubule associated protein 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8776674	Map7	microtubule associated protein 7	gene	DOID:10534	stomach cancer		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8776674	Map7	microtubule associated protein 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8776674	Map7	microtubule associated protein 7	gene	DOID:1324	lung cancer		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8776674	Map7	microtubule associated protein 7	gene	DOID:1909	melanoma		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8776674	Map7	microtubule associated protein 7	gene	DOID:2394	ovarian cancer		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8776674	Map7	microtubule associated protein 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8776674	Map7	microtubule associated protein 7	gene	DOID:4362	cervical cancer		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8776674	Map7	microtubule associated protein 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1318886	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8776674	Map7	microtubule associated protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776674	Map7	microtubule associated protein 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8776674	Map7	microtubule associated protein 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8776674	Map7	microtubule associated protein 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8776727	Mon1a	MON1 vesicular trafficking associated A	gene	DOID:0060774	congenital diarrhea		ISO	RGD:1601843	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Congenital diarrhea	PMID:25741868
8776727	Mon1a	MON1 vesicular trafficking associated A	gene	DOID:1115	sarcoma		ISO	RGD:1601843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8776727	Mon1a	MON1 vesicular trafficking associated A	gene	DOID:1909	melanoma		ISO	RGD:1601843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8776727	Mon1a	MON1 vesicular trafficking associated A	gene	DOID:2351	iron metabolism disease		ISO	RGD:1601843	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17632513
8776727	Mon1a	MON1 vesicular trafficking associated A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776727	Mon1a	MON1 vesicular trafficking associated A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1601843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8776727	Mon1a	MON1 vesicular trafficking associated A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8776745	Defb119	defensin beta 119	gene	DOID:229	female reproductive system disease		ISO	RGD:1615624	D	RGD:9068941	20230202	MouseDO			
8776752	Lpgat1	lysophosphatidylglycerol acyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8776752	Lpgat1	lysophosphatidylglycerol acyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1353817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8776752	Lpgat1	lysophosphatidylglycerol acyltransferase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8776752	Lpgat1	lysophosphatidylglycerol acyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353817	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8776752	Lpgat1	lysophosphatidylglycerol acyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776752	Lpgat1	lysophosphatidylglycerol acyltransferase 1	gene	DOID:9004657	Weight Gain		ISO	RGD:1353817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8776781	Myoc	myocilin	gene	DOID:1067	open-angle glaucoma		ISO	RGD:737429	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Open-angle glaucoma	PMID:10330365|PMID:10545602|PMID:11004290|PMID:11298682|PMID:12356829|PMID:14688426|PMID:15069026|PMID:15790895|PMID:16297911|PMID:16466712|PMID:17893664|PMID:20334347|PMID:21612213|PMID:23029558|PMID:23129764|PMID:24333014|PMID:25524706|PMID:25741868|PMID:27092720|PMID:28492532|PMID:32818018|PMID:35196929|PMID:35615698|PMID:36267417|PMID:36579626|PMID:40081751
8776781	Myoc	myocilin	gene	DOID:1068	juvenile glaucoma		ISO	RGD:737429	D	RGD:7240710	20180130	OMIM			
8776781	Myoc	myocilin	gene	DOID:1068	juvenile glaucoma		ISO	RGD:737429	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: GLAUCOMA 1, OPEN ANGLE, A | ClinVar Annotator: match by term: GLAUCOMA 1, OPEN ANGLE, A, DIGENIC | ClinVar Annotator: match by term: Glaucoma 1, open angle, A | ClinVar Annotator: match by term: MYOC-Related Disorders | ClinVar Annotator: match by term: MYOC-related condition	PMID:10330365|PMID:10545602|PMID:10819638|PMID:11004290|PMID:11298682|PMID:11604506|PMID:11774072|PMID:12189160|PMID:12356829|PMID:12447164|PMID:12671463|PMID:14688426|PMID:15025728|PMID:15069026|PMID:15723004|PMID:15733270|PMID:15790895|PMID:15851979|PMID:16148883|PMID:16288197|PMID:16466712|PMID:16936947|PMID:17563717|PMID:17615537|PMID:17893664|PMID:17960117|PMID:18436825|PMID:18728751|PMID:19023451|PMID:19234343|PMID:20334347|PMID:21612213|PMID:21850185|PMID:22194650|PMID:22736945|PMID:23029558|PMID:23129764|PMID:24883016|PMID:25524706|PMID:25741868|PMID:27485216|PMID:28492532|PMID:30483726|PMID:30484747|PMID:31270212|PMID:33725475|PMID:35196929|PMID:36069958|PMID:36267417|PMID:36579626|PMID:9328473|PMID:9345106|PMID:9535666
8776781	Myoc	myocilin	gene	DOID:1068	juvenile glaucoma	susceptibility	ISO	RGD:737429	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation, missense mutation, snps:exon, intron, 3' utr:multiple (human)	PMID:17893664|REF_RGD_ID:7401192
8776781	Myoc	myocilin	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:737429	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Primary open angle glaucoma	
8776781	Myoc	myocilin	gene	DOID:1070	primary open angle glaucoma	no_association	ISO	RGD:737429	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-1000C>G (human)	PMID:12215093|REF_RGD_ID:7401240
8776781	Myoc	myocilin	gene	DOID:1070	primary open angle glaucoma	severity	ISO	RGD:737429	D	RGD:9068941	20200609	RGD		DNA:snp:cds:pT377M (human)	PMID:16431959|REF_RGD_ID:7401245
8776781	Myoc	myocilin	gene	DOID:1070	primary open angle glaucoma	severity	ISO	RGD:737429	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-1000C>G (human)	PMID:11595024|REF_RGD_ID:1600842
8776781	Myoc	myocilin	gene	DOID:1070	primary open angle glaucoma	susceptibility	ISO	RGD:737429	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.G367R (human)	PMID:21655360|REF_RGD_ID:7401170
8776781	Myoc	myocilin	gene	DOID:1070	primary open angle glaucoma	susceptibility	ISO	RGD:737429	D	RGD:9068941	20200609	RGD		DNA:snps, deletion:cds:p.G326S, p.T286R, p.Y453MfsX11 (human)	PMID:22879734|REF_RGD_ID:7401168
8776781	Myoc	myocilin	gene	DOID:1070	primary open angle glaucoma	susceptibility	ISO	RGD:737429	D	RGD:9068941	20200609	RGD		DNA:snps:cds:multiple (human)	PMID:12189160|REF_RGD_ID:7401189
8776781	Myoc	myocilin	gene	DOID:1070	primary open angle glaucoma	susceptibility	ISO	RGD:737429	D	RGD:9068941	20200609	RGD		DNA:snps:cds:p.G12R, p.V53A, p.T353I (human)	PMID:19145250|REF_RGD_ID:7401163
8776781	Myoc	myocilin	gene	DOID:13544	low tension glaucoma	susceptibility	ISO	RGD:737429	D	RGD:9068941	20200609	RGD		DNA:Haplotype: :	PMID:16148883|REF_RGD_ID:7771548
8776781	Myoc	myocilin	gene	DOID:1686	glaucoma		ISO	RGD:737429	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Glaucoma	PMID:10196380|PMID:10330365|PMID:10798654|PMID:10980537|PMID:11133859|PMID:11281418|PMID:11298682|PMID:12356829|PMID:12442283|PMID:14688426|PMID:14764620|PMID:14767915|PMID:15790895|PMID:16148883|PMID:16466712|PMID:16636654|PMID:17438518|PMID:17893664|PMID:18776955|PMID:19145250|PMID:21850185|PMID:23029558|PMID:23922489|PMID:25741868|PMID:28492532|PMID:35196929|PMID:36267417|PMID:9535666|PMID:9772276
8776781	Myoc	myocilin	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:620430	D	RGD:9068941	20200609	RGD		protein:increased expression:renal glomerulus (rat)	PMID:15610237|REF_RGD_ID:7401266
8776781	Myoc	myocilin	gene	DOID:6000	congestive heart failure		ISO	RGD:737429	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
8776781	Myoc	myocilin	gene	DOID:630	genetic disease		ISO	RGD:737429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8776781	Myoc	myocilin	gene	DOID:9000998	Brain Injuries		ISO	RGD:620430	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebral cortex (rat)	PMID:12799138|REF_RGD_ID:7401267
8776781	Myoc	myocilin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737429	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8776781	Myoc	myocilin	gene	DOID:9282	ocular hypertension		ISO	RGD:620430	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina (rat)	PMID:17102796|REF_RGD_ID:1601004
8776781	Myoc	myocilin	gene	DOID:9282	ocular hypertension		ISO	RGD:734341	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:eye, trabecular mesh (mouse)	PMID:23322580|REF_RGD_ID:7394804
8776781	Myoc	myocilin	gene	DOID:9282	ocular hypertension		ISO	RGD:737429	D	RGD:9068941	20200609	RGD		associated with Glaucoma, Primary Open Angle; DNA:snp:cds:p.T377M (human)	PMID:20107173|REF_RGD_ID:7394831
8776781	Myoc	myocilin	gene	DOID:9282	ocular hypertension	treatment	ISO	RGD:734341	D	RGD:9068941	20200609	RGD			PMID:23322580|REF_RGD_ID:7394804
8776788	Snx21	sorting nexin family member 21	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8776788	Snx21	sorting nexin family member 21	gene	DOID:10534	stomach cancer		ISO	RGD:1322486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8776788	Snx21	sorting nexin family member 21	gene	DOID:1115	sarcoma		ISO	RGD:1322486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8776788	Snx21	sorting nexin family member 21	gene	DOID:1909	melanoma		ISO	RGD:1322486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8776788	Snx21	sorting nexin family member 21	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8776788	Snx21	sorting nexin family member 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776788	Snx21	sorting nexin family member 21	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8776788	Snx21	sorting nexin family member 21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8776788	Snx21	sorting nexin family member 21	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8776800	Dctn1	dynactin subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:19506225|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32028661|PMID:33006056|PMID:37301908|PMID:37952009
8776800	Dctn1	dynactin subunit 1	gene	DOID:0050835	generalized dystonia		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized dystonia	PMID:25741868|PMID:28492532
8776800	Dctn1	dynactin subunit 1	gene	DOID:0050890	synucleinopathy		ISO	RGD:62038	D	RGD:9068941	20200609	RGD			PMID:19295143|REF_RGD_ID:11049591
8776800	Dctn1	dynactin subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603060	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:19506225|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32028661|PMID:33006056|PMID:37301908|PMID:37952009
8776800	Dctn1	dynactin subunit 1	gene	DOID:0060058	lymphoma		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:19506225|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32028661|PMID:33006056|PMID:37301908|PMID:37952009
8776800	Dctn1	dynactin subunit 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1603060	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1	PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:18852346|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24484619|PMID:24627108|PMID:24881494|PMID:25025039|PMID:25299611|PMID:25382069|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28709720|PMID:28717666|PMID:28792508|PMID:29089398|PMID:29339765|PMID:29525180|PMID:29738522|PMID:31996268|PMID:32023010|PMID:32028661|PMID:32402491|PMID:33369814|PMID:9536098
8776800	Dctn1	dynactin subunit 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1603060	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1	PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18812314|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24627108|PMID:25025039|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:29525180|PMID:29738522|PMID:30373780|PMID:32023010|PMID:32028661|PMID:32402491|PMID:33369814|PMID:9536098
8776800	Dctn1	dynactin subunit 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1603060	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1	PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18812314|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24627108|PMID:25025039|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28717666|PMID:29525180|PMID:29738522|PMID:30373780|PMID:32023010|PMID:32028661|PMID:32402491|PMID:33369814|PMID:9536098
8776800	Dctn1	dynactin subunit 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1603060	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1	PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18812314|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24627108|PMID:25025039|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28717666|PMID:29738522|PMID:30373780|PMID:32023010|PMID:32028661|PMID:32402491|PMID:33369814|PMID:9536098
8776800	Dctn1	dynactin subunit 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1603060	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1	PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:18852346|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:23985322|PMID:24484619|PMID:24627108|PMID:24881494|PMID:25025039|PMID:25109764|PMID:25299611|PMID:25382069|PMID:25558820|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28709720|PMID:28717666|PMID:28792508|PMID:29339765|PMID:29525180|PMID:29738522|PMID:30373780|PMID:31788332|PMID:31996268|PMID:32023010|PMID:32028661|PMID:32325477|PMID:32397312|PMID:32402491|PMID:32461654|PMID:32712562|PMID:33369814|PMID:33601107|PMID:33973882|PMID:9536098
8776800	Dctn1	dynactin subunit 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1603060	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1	PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:18852346|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:23985322|PMID:24484619|PMID:24627108|PMID:24881494|PMID:25025039|PMID:25109764|PMID:25299611|PMID:25382069|PMID:25558820|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28709720|PMID:28717666|PMID:28792508|PMID:29339765|PMID:29525180|PMID:29738522|PMID:30373780|PMID:31788332|PMID:31996268|PMID:32023010|PMID:32028661|PMID:32325477|PMID:32397312|PMID:32402491|PMID:32461654|PMID:32712562|PMID:32843152|PMID:33369814|PMID:33601107|PMID:33973882|PMID:35873773|PMID:9536098
8776800	Dctn1	dynactin subunit 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1603060	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1	PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:18852346|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:23985322|PMID:24484619|PMID:24627108|PMID:24881494|PMID:25025039|PMID:25109764|PMID:25299611|PMID:25382069|PMID:25558820|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28709720|PMID:28717666|PMID:28792508|PMID:29339765|PMID:29525180|PMID:29738522|PMID:30373780|PMID:31788332|PMID:31996268|PMID:32023010|PMID:32028661|PMID:32325477|PMID:32397312|PMID:32402491|PMID:32461654|PMID:32579787|PMID:32712562|PMID:32843152|PMID:33369814|PMID:33408239|PMID:33601107|PMID:33973882|PMID:35047667|PMID:35586532|PMID:35873773|PMID:9536098
8776800	Dctn1	dynactin subunit 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1603060	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1	PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:18852346|PMID:19136952|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:23985322|PMID:24343258|PMID:24484619|PMID:24627108|PMID:24881494|PMID:25025039|PMID:25109764|PMID:25299611|PMID:25382069|PMID:25558820|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28625595|PMID:28709720|PMID:28717666|PMID:28792508|PMID:29339765|PMID:29525180|PMID:29738522|PMID:30373780|PMID:31788332|PMID:31996268|PMID:32023010|PMID:32028661|PMID:32325477|PMID:32397312|PMID:32402491|PMID:32461654|PMID:32579787|PMID:32712562|PMID:32717578|PMID:32843152|PMID:33369814|PMID:33408239|PMID:33443672|PMID:33601107|PMID:33973882|PMID:35047667|PMID:35586532|PMID:35873773|PMID:9536098
8776800	Dctn1	dynactin subunit 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1603060	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1	PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:18852346|PMID:19136952|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:23985322|PMID:24343258|PMID:24484619|PMID:24627108|PMID:24881494|PMID:25025039|PMID:25109764|PMID:25299611|PMID:25382069|PMID:25558820|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28625595|PMID:28709720|PMID:28717666|PMID:28792508|PMID:29339765|PMID:29525180|PMID:29738522|PMID:30373780|PMID:31788332|PMID:31996268|PMID:32023010|PMID:32028661|PMID:32325477|PMID:32397312|PMID:32402491|PMID:32461654|PMID:32579787|PMID:32712562|PMID:32717578|PMID:32843152|PMID:33369814|PMID:33408239|PMID:33443672|PMID:33601107|PMID:33973882|PMID:35047667|PMID:35586532|PMID:35873773|PMID:36879021|PMID:37668947|PMID:9536098
8776800	Dctn1	dynactin subunit 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1603060	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1	PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:18852346|PMID:19136952|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:23985322|PMID:24343258|PMID:24484619|PMID:24627108|PMID:24881494|PMID:25025039|PMID:25109764|PMID:25299611|PMID:25382069|PMID:25558820|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28625595|PMID:28709720|PMID:28717666|PMID:28792508|PMID:29339765|PMID:29525180|PMID:29738522|PMID:30373780|PMID:31788332|PMID:31996268|PMID:32023010|PMID:32028661|PMID:32325477|PMID:32397312|PMID:32402491|PMID:32461654|PMID:32579787|PMID:32712562|PMID:32717578|PMID:32843152|PMID:33369814|PMID:33408239|PMID:33443672|PMID:33601107|PMID:33973882|PMID:35047667|PMID:35586532|PMID:35873773|PMID:36879021|PMID:37223130|PMID:37668947|PMID:9536098
8776800	Dctn1	dynactin subunit 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1 | ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1	PMID:12627231|PMID:15326253|PMID:16199547|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18812314|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23628468|PMID:23985322|PMID:24484619|PMID:24604904|PMID:24881494|PMID:25025039|PMID:25109764|PMID:25299611|PMID:25382069|PMID:25558820|PMID:25590979|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28251916|PMID:28492532|PMID:28518168|PMID:28717666|PMID:28792508|PMID:29339765|PMID:29525178|PMID:29525180|PMID:29738522|PMID:30373780|PMID:31788332|PMID:32023010|PMID:32028661|PMID:32325477|PMID:32402491|PMID:32461654|PMID:32557143|PMID:32712562|PMID:32843152|PMID:33006056|PMID:33408239|PMID:33414559|PMID:33443672|PMID:33601107|PMID:34544842|PMID:35297556|PMID:35325666|PMID:35586532|PMID:35896380|PMID:35964197|PMID:36608707|PMID:37198191|PMID:37301908|PMID:37330543|PMID:37336025|PMID:37668947|PMID:37952009|PMID:9536098
8776800	Dctn1	dynactin subunit 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1603060	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1	PMID:12627231|PMID:15326253|PMID:16199547|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18812314|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23628468|PMID:23985322|PMID:24484619|PMID:24604904|PMID:24881494|PMID:25025039|PMID:25109764|PMID:25299611|PMID:25382069|PMID:25558820|PMID:25590979|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28717666|PMID:28792508|PMID:29339765|PMID:29525180|PMID:29738522|PMID:30373780|PMID:31788332|PMID:32023010|PMID:32028661|PMID:32325477|PMID:32402491|PMID:32461654|PMID:32557143|PMID:32712562|PMID:32843152|PMID:33006056|PMID:33408239|PMID:33443672|PMID:33601107|PMID:34544842|PMID:35325666|PMID:35586532|PMID:35896380|PMID:35964197|PMID:36608707|PMID:37198191|PMID:37301908|PMID:37330543|PMID:37336025|PMID:37668947|PMID:37952009|PMID:9536098
8776800	Dctn1	dynactin subunit 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1	susceptibility	ISO	RGD:1603060	D	RGD:7240710	20260722	OMIM			
8776800	Dctn1	dynactin subunit 1	gene	DOID:0060486	Perry syndrome		ISO	RGD:1603060	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION | ClinVar Annotator: match by term: PERRY SYNDROME | ClinVar Annotator: match by term: Parkinsonism with alveolar hypoventilation and mental depression | ClinVar Annotator: match by term: Perry syndrome	PMID:15326253|PMID:16199547|PMID:17576681|PMID:17824900|PMID:18812314|PMID:18852346|PMID:19136952|PMID:19506225|PMID:20518521|PMID:20945553|PMID:22777741|PMID:23143281|PMID:23628468|PMID:23881933|PMID:23985322|PMID:24343258|PMID:24484619|PMID:24604904|PMID:24676999|PMID:24797316|PMID:24881494|PMID:25025039|PMID:25299611|PMID:25382069|PMID:25590979|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:28130640|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28625595|PMID:28717666|PMID:29525180|PMID:30373780|PMID:31788332|PMID:32023010|PMID:32028661|PMID:32325477|PMID:32402491|PMID:32461654|PMID:32712562|PMID:32717578|PMID:32843152|PMID:33006056|PMID:33408239|PMID:33443672|PMID:35325666|PMID:36133075|PMID:36608707|PMID:37198191|PMID:37301908|PMID:37330543|PMID:37336025|PMID:37668947|PMID:37952009|PMID:9536098
8776800	Dctn1	dynactin subunit 1	gene	DOID:0060486	Perry syndrome	susceptibility	ISO	RGD:1603060	D	RGD:7240710	20260722	OMIM			
8776800	Dctn1	dynactin subunit 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:1603060	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Parkinsonism	PMID:25741868|PMID:28492532|PMID:28518168|PMID:29525180|PMID:32461654
8776800	Dctn1	dynactin subunit 1	gene	DOID:0111202	autosomal dominant distal hereditary motor neuronopathy 14		ISO	RGD:1603060	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, HARDING TYPE VIIB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B	PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:19136952|PMID:19279216|PMID:19506225|PMID:20437543|PMID:20945553|PMID:22777741|PMID:23143281|PMID:24627108|PMID:25025039|PMID:25299611|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28625595|PMID:28717666|PMID:28792508|PMID:29525180|PMID:30373780|PMID:32028661|PMID:32402491|PMID:32461654|PMID:32843152|PMID:33369814|PMID:33408239|PMID:33973882|PMID:35873773|PMID:37668947|PMID:9536098
8776800	Dctn1	dynactin subunit 1	gene	DOID:0111202	autosomal dominant distal hereditary motor neuronopathy 14		ISO	RGD:1603060	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 7B | ClinVar Annotator: match by term: Genetic motor neuron disease | ClinVar Annotator: match by term: LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE | ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 14 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, HARDING TYPE VIIB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B	PMID:12627231|PMID:15326253|PMID:16199547|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23628468|PMID:23985322|PMID:24484619|PMID:24604904|PMID:24881494|PMID:25025039|PMID:25299611|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28717666|PMID:28792508|PMID:29525180|PMID:30373780|PMID:31788332|PMID:32028661|PMID:32325477|PMID:32402491|PMID:32461654|PMID:32712562|PMID:32843152|PMID:33006056|PMID:33408239|PMID:33443672|PMID:33973882|PMID:34275688|PMID:35193472|PMID:35325666|PMID:36608707|PMID:37198191|PMID:37301908|PMID:37330543|PMID:37336025|PMID:37668947|PMID:37952009|PMID:9536098
8776800	Dctn1	dynactin subunit 1	gene	DOID:0111202	autosomal dominant distal hereditary motor neuronopathy 14	susceptibility	ISO	RGD:1603060	D	RGD:7240710	20260722	OMIM			
8776800	Dctn1	dynactin subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603060	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:19506225|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32028661|PMID:33006056|PMID:37301908|PMID:37952009
8776800	Dctn1	dynactin subunit 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:15326253|PMID:18812314|PMID:23143281|PMID:24604904|PMID:24627108|PMID:25025039|PMID:25741868|PMID:28492532
8776800	Dctn1	dynactin subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8776800	Dctn1	dynactin subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:19506225|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32028661|PMID:33006056|PMID:37301908|PMID:37952009
8776800	Dctn1	dynactin subunit 1	gene	DOID:1289	neurodegenerative disease		ISO	RGD:62330	D	RGD:9068941	20200609	RGD			PMID:18364389|REF_RGD_ID:5539209
8776800	Dctn1	dynactin subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:19506225|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32028661|PMID:33006056|PMID:37301908|PMID:37952009
8776800	Dctn1	dynactin subunit 1	gene	DOID:1596	depressive disorder		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
8776800	Dctn1	dynactin subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:17824900|PMID:19506225|PMID:25382069|PMID:25741868|PMID:26467025|PMID:26662454|PMID:28492532|PMID:29525178|PMID:33414559
8776800	Dctn1	dynactin subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1603060	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
8776800	Dctn1	dynactin subunit 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8776800	Dctn1	dynactin subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:19506225|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32028661|PMID:33006056|PMID:37301908|PMID:37952009
8776800	Dctn1	dynactin subunit 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:19506225|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32028661|PMID:33006056|PMID:37301908|PMID:37952009
8776800	Dctn1	dynactin subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1603060	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8776800	Dctn1	dynactin subunit 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1603060	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to | ClinVar Annotator: match by term: Charcot disease | ClinVar Annotator: match by term: amyotrophic lateral sclerosis	PMID:15326253|PMID:16240349|PMID:17824900|PMID:18812314|PMID:19506225|PMID:22777741|PMID:23143281|PMID:25025039|PMID:25382069|PMID:25741868|PMID:26429889|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28130640|PMID:28430856|PMID:28492532|PMID:28717666|PMID:32579787
8776800	Dctn1	dynactin subunit 1	gene	DOID:3324	mood disorder		ISO	RGD:1603060	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19136952
8776800	Dctn1	dynactin subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:19506225|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32028661|PMID:33006056|PMID:37301908|PMID:37952009
8776800	Dctn1	dynactin subunit 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:19506225|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32028661|PMID:33006056|PMID:37301908|PMID:37952009
8776800	Dctn1	dynactin subunit 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603060	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:19506225|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32028661|PMID:33006056|PMID:37301908|PMID:37952009
8776800	Dctn1	dynactin subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603060	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:19506225|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32028661|PMID:33006056|PMID:37301908|PMID:37952009
8776800	Dctn1	dynactin subunit 1	gene	DOID:543	dystonia		ISO	RGD:1603060	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:28492532
8776800	Dctn1	dynactin subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603060	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:19506225|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32028661|PMID:33006056|PMID:37301908|PMID:37952009
8776800	Dctn1	dynactin subunit 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:19506225|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32028661|PMID:33006056|PMID:37301908|PMID:37952009
8776800	Dctn1	dynactin subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:19506225|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32028661|PMID:33006056|PMID:37301908|PMID:37952009
8776800	Dctn1	dynactin subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1603060	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15326253|PMID:18812314|PMID:19506225|PMID:23143281|PMID:23985322|PMID:25025039|PMID:25299611|PMID:25382069|PMID:25741868|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:28430856|PMID:28492532|PMID:28518168|PMID:29525180|PMID:30270202|PMID:31788332|PMID:32028661|PMID:32461654|PMID:32843152|PMID:33006056|PMID:33408239|PMID:37301908|PMID:37952009
8776800	Dctn1	dynactin subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8776800	Dctn1	dynactin subunit 1	gene	DOID:870	neuropathy		ISO	RGD:1603060	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:28492532
8776800	Dctn1	dynactin subunit 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
8776800	Dctn1	dynactin subunit 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
8776800	Dctn1	dynactin subunit 1	gene	DOID:9003671	Hypoventilation		ISO	RGD:1603060	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19136952
8776800	Dctn1	dynactin subunit 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:19506225|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32028661|PMID:33006056|PMID:37301908|PMID:37952009
8776800	Dctn1	dynactin subunit 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:19506225|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32028661|PMID:33006056|PMID:37301908|PMID:37952009
8776800	Dctn1	dynactin subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
8776800	Dctn1	dynactin subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:19506225|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32028661|PMID:33006056|PMID:37301908|PMID:37952009
8776800	Dctn1	dynactin subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603060	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:19506225|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32028661|PMID:33006056|PMID:37301908|PMID:37952009
8776800	Dctn1	dynactin subunit 1	gene	DOID:9834	hyperopia		ISO	RGD:1603060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
8776869	Mgp	matrix Gla protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8776869	Mgp	matrix Gla protein	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:737291	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:19350115
8776869	Mgp	matrix Gla protein	gene	DOID:10286	prostate carcinoma		ISO	RGD:737291	D	RGD:9068941	20200609	RGD		mRNA:increased expression:primary tumor;   mRNA:decreased expression:metastatic tissue:decreased or absent expression in metastases and cell lines from metastatic tumors	PMID:1399132|REF_RGD_ID:2293578
8776869	Mgp	matrix Gla protein	gene	DOID:182	calcinosis		ISO	RGD:737291	D	RGD:9068941	20200609	RGD			PMID:15045141|REF_RGD_ID:1582501
8776869	Mgp	matrix Gla protein	gene	DOID:2349	arteriosclerosis		ISO	RGD:737291	D	RGD:9068941	20200609	RGD			PMID:8200973|REF_RGD_ID:1582504
8776869	Mgp	matrix Gla protein	gene	DOID:305	carcinoma		ISO	RGD:737291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462|PMID:16316942
8776869	Mgp	matrix Gla protein	gene	DOID:3304	germinoma		ISO	RGD:737291	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor	PMID:1399132|REF_RGD_ID:2293578
8776869	Mgp	matrix Gla protein	gene	DOID:3454	brain infarction		ISO	RGD:3088	D	RGD:9068941	20230527	RGD		mRNA:increased expression:brain (rat)	PMID:23251410|REF_RGD_ID:329845556
8776869	Mgp	matrix Gla protein	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:737291	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor:inversely related to tumor size (0.025<p<=0.05), lymph node metastases (0.01<p<=0.025) and tumor grade (0.01<p<=0.025)	PMID:1399132|REF_RGD_ID:2293578
8776869	Mgp	matrix Gla protein	gene	DOID:4676	uremia		ISO	RGD:737291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19092814
8776869	Mgp	matrix Gla protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776869	Mgp	matrix Gla protein	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:737291	D	RGD:9068941	20200609	RGD			PMID:11073842|REF_RGD_ID:1582503
8776869	Mgp	matrix Gla protein	gene	DOID:630	genetic disease		ISO	RGD:737291	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8776869	Mgp	matrix Gla protein	gene	DOID:799	varicose veins		ISO	RGD:737291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17643059
8776869	Mgp	matrix Gla protein	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:737291	D	RGD:9068941	20200609	RGD			PMID:17960611|REF_RGD_ID:2293584
8776869	Mgp	matrix Gla protein	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:737291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462|PMID:16316942
8776869	Mgp	matrix Gla protein	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:737291	D	RGD:9068941	20200609	RGD			PMID:16973975|REF_RGD_ID:1582502
8776869	Mgp	matrix Gla protein	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8776869	Mgp	matrix Gla protein	gene	DOID:9002315	Kidney Calculi		ISO	RGD:3088	D	RGD:9068941	20200609	RGD			PMID:10460895|REF_RGD_ID:1582511
8776869	Mgp	matrix Gla protein	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:737291	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor:39/39 (100%) of tumors showed >10x increase over normal tissue and 87% showed >100x increase	PMID:11358798|REF_RGD_ID:2293586
8776869	Mgp	matrix Gla protein	gene	DOID:9002991	Keutel Syndrome		ISO	RGD:737291	D	RGD:7240710	20180130	OMIM			
8776869	Mgp	matrix Gla protein	gene	DOID:9002991	Keutel Syndrome		ISO	RGD:737291	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KEUTEL SYNDROME | ClinVar Annotator: match by term: Keutel syndrome | ClinVar Annotator: match by term: MGP-related condition	PMID:25741868|PMID:28492532
8776869	Mgp	matrix Gla protein	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:737291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8776869	Mgp	matrix Gla protein	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:737291	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor, adjacent dysplastic cervical epithelium:7/8 (88%) cervical squamous cell carcinomas	PMID:17960611|REF_RGD_ID:2293584
8776869	Mgp	matrix Gla protein	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:737291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462|PMID:16316942
8776869	Mgp	matrix Gla protein	gene	DOID:9006332	Vascular Calcification		ISO	RGD:737291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21705322
8776869	Mgp	matrix Gla protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8776877	Fuz	fuzzy planar cell polarity protein	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1602203	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	
8776877	Fuz	fuzzy planar cell polarity protein	gene	DOID:0060340	ciliopathy		ISO	RGD:1332516	D	RGD:9068941	20251218	MouseDO			
8776877	Fuz	fuzzy planar cell polarity protein	gene	DOID:0080074	neural tube defect		ISO	RGD:1602203	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FUZ-related condition | ClinVar Annotator: match by term: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to	PMID:25741868|PMID:28492532
8776877	Fuz	fuzzy planar cell polarity protein	gene	DOID:0080074	neural tube defect	susceptibility	ISO	RGD:1602203	D	RGD:7240710	20190502	OMIM			
8776877	Fuz	fuzzy planar cell polarity protein	gene	DOID:0110092	short-rib thoracic dysplasia 6 with or without polydactyly		ISO	RGD:1602203	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: short-rib polydactyly syndrome type II	
8776877	Fuz	fuzzy planar cell polarity protein	gene	DOID:1115	sarcoma		ISO	RGD:1602203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8776877	Fuz	fuzzy planar cell polarity protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8776877	Fuz	fuzzy planar cell polarity protein	gene	DOID:4362	cervical cancer		ISO	RGD:1602203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8776877	Fuz	fuzzy planar cell polarity protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776877	Fuz	fuzzy planar cell polarity protein	gene	DOID:6039	uveal melanoma		ISO	RGD:1602203	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8776877	Fuz	fuzzy planar cell polarity protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8776877	Fuz	fuzzy planar cell polarity protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8776877	Fuz	fuzzy planar cell polarity protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:0050486	exanthem		ISO	RGD:1347094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skin rash	PMID:25741868
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1347094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21115542
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:0081077	ectodermal dysplasia and immune deficiency		ISO	RGD:1347094	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia with Immune Deficiency	PMID:18222329|PMID:25741868
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:0081078	ectodermal dysplasia and immunodeficiency 1		ISO	RGD:1347094	D	RGD:7240710	20180130	OMIM			
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:0081078	ectodermal dysplasia and immunodeficiency 1		ISO	RGD:1347094	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1 | ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia	PMID:15661019|PMID:18222329|PMID:24682681|PMID:25741868|PMID:29077208
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:0112003	immunodeficiency 33		ISO	RGD:1347094	D	RGD:7240710	20180130	OMIM			
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:0112003	immunodeficiency 33		ISO	RGD:1347094	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 33 | ClinVar Annotator: match by term: Immunodeficiency 33 | ClinVar Annotator: match by term: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency	PMID:15661019|PMID:18222329|PMID:24682681|PMID:25741868
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:12305	Bloch-Sulzberger syndrome		ISO	RGD:1347094	D	RGD:7240710	20180130	OMIM			
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:12305	Bloch-Sulzberger syndrome		ISO	RGD:1347094	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bloch-Sulzberger syndrome | ClinVar Annotator: match by term: INCONTINENTIA PIGMENTI | ClinVar Annotator: match by term: Incontinentia pigmenti syndrome	PMID:11590134|PMID:15661019|PMID:18222329|PMID:18350553|PMID:19656162|PMID:24339369|PMID:24682681|PMID:25741868
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:13241	Behcet's disease		ISO	RGD:1347094	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:1217A>T(D406V)(human)	PMID:20412081|REF_RGD_ID:12791269
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:13628	favism		ISO	RGD:1347094	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: G6PD A-	PMID:10480214|PMID:10502785|PMID:10627140|PMID:11379875|PMID:11601226|PMID:11748843|PMID:11968085|PMID:12064920|PMID:15727905|PMID:16329560|PMID:16427346|PMID:16601897|PMID:16607506|PMID:17576681|PMID:18046504|PMID:18177777|PMID:18627054|PMID:19396829|PMID:1945893|PMID:19589177|PMID:19732863|PMID:19846429|PMID:21446359|PMID:21931168|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:25741868|PMID:28492532|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31862010|PMID:31863082|PMID:3198117|PMID:33051526|PMID:33072997|PMID:34620237|PMID:34659341|PMID:34762759|PMID:34895177|PMID:34989400|PMID:35313968|PMID:35384376|PMID:35840819|PMID:36212142|PMID:36353116|PMID:37272928|PMID:38592584|PMID:6805883|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9384614|PMID:9536098|PMID:9589612
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:1526	panniculitis		ISO	RGD:1347094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Panniculitis	PMID:25741868|PMID:31874111
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:1555	urticaria		ISO	RGD:1347094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urticaria	PMID:25741868
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:2237	hepatitis		ISO	RGD:1620111	D	RGD:9068941	20220811	RGD			PMID:25173965|PMID:29551768|REF_RGD_ID:153297807|REF_RGD_ID:153305943
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:2355	anemia		ISO	RGD:1347094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:3156	hypomelanosis of Ito		ISO	RGD:1347094	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Incontinentia pigmenti syndrome	PMID:11590134|PMID:15661019|PMID:18222329|PMID:18350553|PMID:19656162|PMID:24339369|PMID:24682681|PMID:25741868
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:3571	liver cancer		ISO	RGD:1347094	D	RGD:9068941	20220811	RGD		human cells in mouse model	PMID:27367027|REF_RGD_ID:153305911
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:5327	retinal detachment		ISO	RGD:1347094	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinal detachment	PMID:25741868
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:552	pneumonia		ISO	RGD:1347094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:25741868|PMID:31874111
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:630	genetic disease		ISO	RGD:1347094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347094	D	RGD:9068941	20220811	RGD		protein:decreased expression:liver (human)	PMID:22176836|PMID:25173965|REF_RGD_ID:153297813|REF_RGD_ID:153305943
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1620111	D	RGD:9068941	20220811	RGD			PMID:17292824|PMID:29551768|REF_RGD_ID:153297807|REF_RGD_ID:153305945
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1620111	D	RGD:9068941	20220811	RGD			PMID:22922425|PMID:24971483|REF_RGD_ID:11079569|REF_RGD_ID:153305947
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:8677	perinatal necrotizing enterocolitis	treatment	ISO	RGD:735223	D	RGD:9068941	20200609	RGD			PMID:17426653|REF_RGD_ID:12791281
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:8927	learning disability		ISO	RGD:1347094	D	RGD:9068941	20200609	RGD		associated with Incontinentia Pigmenti;DNA:deletion:exons:	PMID:24489960|REF_RGD_ID:12791267
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:9000972	Fever		ISO	RGD:1347094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	PMID:25741868|PMID:31874111
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1347094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30737368
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1347094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30737368
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:9002139	Systemic Autoinflammatory Disease, X-Linked		ISO	RGD:1347094	D	RGD:7240710	20220810	OMIM			
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:9002139	Systemic Autoinflammatory Disease, X-Linked		ISO	RGD:1347094	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED	PMID:15661019|PMID:24682681|PMID:25741868
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:735223	D	RGD:9068941	20200609	RGD			PMID:22381173|REF_RGD_ID:12791280
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1347094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25741868|PMID:31874111
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:735223	D	RGD:9068941	20200609	RGD			PMID:16684367|REF_RGD_ID:12791276
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:9002589	Bone Fractures		ISO	RGD:1347094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:25741868|PMID:31874111
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:9004150	Lymphadenopathy		ISO	RGD:1347094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphadenopathy	PMID:25741868|PMID:31874111
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:9005005	Oral Ulcer		ISO	RGD:1347094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oral ulcer	PMID:25741868
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1347094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17114358
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:9006263	Experimental Pancreatitis	treatment	ISO	RGD:735223	D	RGD:9068941	20200609	RGD			PMID:19195057|REF_RGD_ID:12791282
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1347094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:31874111
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:9007661	Dwarfism		ISO	RGD:1347094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:31874111
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:9256	colorectal cancer		ISO	1618153	D	RGD:9068941	20220811	RGD			PMID:28502111|REF_RGD_ID:153305906
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:9408	acute myocardial infarction	ameliorates	ISO	RGD:735223	D	RGD:9068941	20230420	RGD			PMID:32068187|REF_RGD_ID:267358468
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:9452	steatotic liver disease		ISO	RGD:1620111	D	RGD:9068941	20220825	MouseDO		OMIM:228100	
8776917	Ikbkg	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	gene	DOID:9778	irritable bowel syndrome	treatment	ISO	RGD:735223	D	RGD:9068941	20200609	RGD			PMID:22428658|REF_RGD_ID:12791275
8776962	Scn2b	sodium voltage-gated channel beta subunit 2	gene	DOID:10754	otitis media		ISO	RGD:3633	D	RGD:9068941	20200609	RGD			PMID:12206256|REF_RGD_ID:6484586
8776962	Scn2b	sodium voltage-gated channel beta subunit 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:736397	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	
8776962	Scn2b	sodium voltage-gated channel beta subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:736397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8776962	Scn2b	sodium voltage-gated channel beta subunit 2	gene	DOID:3275	thymoma		ISO	RGD:736397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8776962	Scn2b	sodium voltage-gated channel beta subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776962	Scn2b	sodium voltage-gated channel beta subunit 2	gene	DOID:9004100	Familial Atrial Fibrillation 14		ISO	RGD:736397	D	RGD:7240710	20180130	OMIM			
8776962	Scn2b	sodium voltage-gated channel beta subunit 2	gene	DOID:9004100	Familial Atrial Fibrillation 14		ISO	RGD:736397	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ATRIAL FIBRILLATION, FAMILIAL, 14 | ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 | ClinVar Annotator: match by term: SCN2B-related condition	PMID:16199547|PMID:17556197|PMID:17576681|PMID:17623065|PMID:19808477|PMID:23559163|PMID:24120998|PMID:24144883|PMID:25741868|PMID:28202948|PMID:28341588|PMID:28492532|PMID:30821013|PMID:30847666|PMID:31041876|PMID:31110529|PMID:34320850|PMID:9536098
8776962	Scn2b	sodium voltage-gated channel beta subunit 2	gene	DOID:9007090	Experimental Seizures		ISO	RGD:3633	D	RGD:9068941	20241207	RGD			PMID:9672387|REF_RGD_ID:2317305
8776970	Il20	interleukin 20	gene	DOID:3021	acute kidney failure		ISO	RGD:1353403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18496552
8776970	Il20	interleukin 20	gene	DOID:4362	cervical cancer		ISO	RGD:1353403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8776970	Il20	interleukin 20	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1353403	D	RGD:9068941	20200609	RGD			PMID:16947773|REF_RGD_ID:5147395
8776970	Il20	interleukin 20	gene	DOID:783	end stage renal disease		ISO	RGD:1353403	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18639518|REF_RGD_ID:5147394
8776970	Il20	interleukin 20	gene	DOID:783	end stage renal disease		ISO	RGD:1583578	D	RGD:9068941	20200609	RGD		protein:increased expression:multiple organs	PMID:18639518|REF_RGD_ID:5147394
8776970	Il20	interleukin 20	gene	DOID:8893	psoriasis		ISO	RGD:1353403	D	RGD:9068941	20200609	RGD		associated with Respiratory Tract Infections;DNA:SNP:enhancer:-1723C>G (rs1713239) (human)	PMID:21109726|REF_RGD_ID:5147391
8776970	Il20	interleukin 20	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1583578	D	RGD:9068941	20200609	RGD			PMID:20722035|REF_RGD_ID:5147393
8776970	Il20	interleukin 20	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1353403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19430480
8776986	Yipf4	Yip1 domain family member 4	gene	DOID:10534	stomach cancer		ISO	RGD:1604267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8776986	Yipf4	Yip1 domain family member 4	gene	DOID:1115	sarcoma		ISO	RGD:1604267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8776986	Yipf4	Yip1 domain family member 4	gene	DOID:1324	lung cancer		ISO	RGD:1604267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8776986	Yipf4	Yip1 domain family member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8776998	Tbx4	T-box transcription factor 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8776998	Tbx4	T-box transcription factor 4	gene	DOID:0111382	ischiocoxopodopatellar syndrome		ISO	RGD:1319185	D	RGD:7240710	20180130	OMIM			
8776998	Tbx4	T-box transcription factor 4	gene	DOID:0111382	ischiocoxopodopatellar syndrome		ISO	RGD:1319185	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Coxopodopatellar syndrome | ClinVar Annotator: match by term: ISCHIOCOXOPODOPATELLAR SYNDROME | ClinVar Annotator: match by term: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION | ClinVar Annotator: match by term: Small patella syndrome | ClinVar Annotator: match by term: TBX4-related condition	PMID:15106123|PMID:17576681|PMID:23592887|PMID:25741868|PMID:28492532|PMID:29120062|PMID:29631995|PMID:29650961|PMID:30029678|PMID:31151956|PMID:31727138|PMID:32006592|PMID:32079640|PMID:32348326|PMID:33971972|PMID:34557690|PMID:35852389|PMID:36085161|PMID:36367783|PMID:36990084|PMID:37422716|PMID:9536098
8776998	Tbx4	T-box transcription factor 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8776998	Tbx4	T-box transcription factor 4	gene	DOID:11111	hydronephrosis		ISO	RGD:1319185	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
8776998	Tbx4	T-box transcription factor 4	gene	DOID:381	arthropathy	susceptibility	ISO	RGD:1319185	D	RGD:9068941	20200609	RGD		Small Patella Syndrome, OMIM:147891;DNA:missense mutation, nonsense mutation:exon, exon:p.G248V, p.Q62X	PMID:15106123|REF_RGD_ID:1601422
8776998	Tbx4	T-box transcription factor 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8776998	Tbx4	T-box transcription factor 4	gene	DOID:630	genetic disease		ISO	RGD:1319185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31151956|PMID:32348326|PMID:36990084
8776998	Tbx4	T-box transcription factor 4	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1319185	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary pulmonary hypoplasia | ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:25741868
8776998	Tbx4	T-box transcription factor 4	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1319185	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease | ClinVar Annotator: match by term: pulmonary arterial hypertension	PMID:15106123|PMID:17576681|PMID:23592887|PMID:25741868|PMID:28492532|PMID:29120062|PMID:29631995|PMID:29650961|PMID:30029678|PMID:30578397|PMID:31151956|PMID:31727138|PMID:32006592|PMID:32348326|PMID:32581362|PMID:32860008|PMID:33066286|PMID:33971972|PMID:34557690|PMID:36367783|PMID:37422716|PMID:9536098
8776998	Tbx4	T-box transcription factor 4	gene	DOID:9004999	APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS		ISO	RGD:1319185	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Aplasia/hypoplasia involving bones of the lower limbs	PMID:25741868
8776998	Tbx4	T-box transcription factor 4	gene	DOID:9005155	Amelia, Autosomal Recessive		ISO	RGD:1319185	D	RGD:7240710	20200226	OMIM			
8776998	Tbx4	T-box transcription factor 4	gene	DOID:9005155	Amelia, Autosomal Recessive		ISO	RGD:1319185	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMELIA, POSTERIOR, WITH PELVIC AND PULMONARY HYPOPLASIA SYNDROME | ClinVar Annotator: match by term: Autosomal recessive amelia	PMID:25741868|PMID:31761294
8776998	Tbx4	T-box transcription factor 4	gene	DOID:9009117	primary pulmonary hypertension 1		ISO	RGD:1319185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1	PMID:15106123|PMID:17576681|PMID:25741868|PMID:27587546|PMID:28492532|PMID:29631995|PMID:30578397|PMID:31151956|PMID:31727138|PMID:31761294|PMID:31965066|PMID:32079640|PMID:32348326|PMID:33066286|PMID:33971972|PMID:34557690|PMID:9536098
8776998	Tbx4	T-box transcription factor 4	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1319185	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	PMID:25741868
8777011	Vta1	vesicle trafficking 1	gene	DOID:0060058	lymphoma		ISO	RGD:1312819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8777011	Vta1	vesicle trafficking 1	gene	DOID:1115	sarcoma		ISO	RGD:1312819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8777011	Vta1	vesicle trafficking 1	gene	DOID:1324	lung cancer		ISO	RGD:1312819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8777011	Vta1	vesicle trafficking 1	gene	DOID:3275	thymoma		ISO	RGD:1312819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8777011	Vta1	vesicle trafficking 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777011	Vta1	vesicle trafficking 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8777011	Vta1	vesicle trafficking 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8777023	Tsc22d1	TSC22 domain family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8777023	Tsc22d1	TSC22 domain family member 1	gene	DOID:305	carcinoma		ISO	RGD:1604401	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8777023	Tsc22d1	TSC22 domain family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777023	Tsc22d1	TSC22 domain family member 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1604401	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8777023	Tsc22d1	TSC22 domain family member 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1604401	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8777023	Tsc22d1	TSC22 domain family member 1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1604401	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15833021|PMID:17533171
8777023	Tsc22d1	TSC22 domain family member 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1604401	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8777023	Tsc22d1	TSC22 domain family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8777023	Tsc22d1	TSC22 domain family member 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1604401	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15089088
8777041	Mier3	MIER family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8777041	Mier3	MIER family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1605562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8777041	Mier3	MIER family member 3	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1605562	D	RGD:9068941	20241003	RGD			PMID:34242623|REF_RGD_ID:407571690
8777041	Mier3	MIER family member 3	gene	DOID:1612	breast cancer	exacerbates	ISO	RGD:1605562	D	RGD:9068941	20241003	RGD			PMID:34242623|REF_RGD_ID:407571690
8777041	Mier3	MIER family member 3	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1605562	D	RGD:9068941	20241003	RGD		mRNA:increased expression:breast	PMID:22993404|REF_RGD_ID:407571689
8777041	Mier3	MIER family member 3	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1605562	D	RGD:9068941	20241003	RGD		mRNA:decreased expression:lung	PMID:35117188|REF_RGD_ID:407571696
8777041	Mier3	MIER family member 3	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1605562	D	RGD:9068941	20241003	RGD			PMID:35117188|REF_RGD_ID:407571696
8777041	Mier3	MIER family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1605562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8777041	Mier3	MIER family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777041	Mier3	MIER family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8777063	Myo18b	myosin XVIIIB	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8777063	Myo18b	myosin XVIIIB	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8777063	Myo18b	myosin XVIIIB	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1349934	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
8777063	Myo18b	myosin XVIIIB	gene	DOID:0060249	scoliosis		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
8777063	Myo18b	myosin XVIIIB	gene	DOID:0060260	ptosis		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:28492532
8777063	Myo18b	myosin XVIIIB	gene	DOID:0080592	Klippel-Feil syndrome 4		ISO	RGD:1349934	D	RGD:7240710	20191225	OMIM			
8777063	Myo18b	myosin XVIIIB	gene	DOID:0080592	Klippel-Feil syndrome 4		ISO	RGD:1349934	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM | ClinVar Annotator: match by term: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | ClinVar Annotator: match by term: Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism | ClinVar Annotator: match by term: MYO18B-related condition	PMID:16199547|PMID:17576681|PMID:25741868|PMID:25748484|PMID:27858739|PMID:28492532|PMID:32184166|PMID:32637634|PMID:9536098
8777063	Myo18b	myosin XVIIIB	gene	DOID:0111406	Fraser syndrome 3		ISO	RGD:1349934	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Fraser syndrome 3	PMID:28492532
8777063	Myo18b	myosin XVIIIB	gene	DOID:10426	Klippel-Feil syndrome		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Klippel Feil syndrome	PMID:25741868|PMID:25748484|PMID:28492532|PMID:32184166|PMID:32637634
8777063	Myo18b	myosin XVIIIB	gene	DOID:10534	stomach cancer		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8777063	Myo18b	myosin XVIIIB	gene	DOID:1059	intellectual disability		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
8777063	Myo18b	myosin XVIIIB	gene	DOID:10969	hemiplegia		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiplegia	PMID:25741868
8777063	Myo18b	myosin XVIIIB	gene	DOID:1115	sarcoma		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8777063	Myo18b	myosin XVIIIB	gene	DOID:11155	hypohidrosis		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:25741868|PMID:28492532
8777063	Myo18b	myosin XVIIIB	gene	DOID:12849	autistic disorder		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
8777063	Myo18b	myosin XVIIIB	gene	DOID:1909	melanoma		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8777063	Myo18b	myosin XVIIIB	gene	DOID:3275	thymoma		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8777063	Myo18b	myosin XVIIIB	gene	DOID:5041	esophageal cancer		ISO	RGD:1349934	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8777063	Myo18b	myosin XVIIIB	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8777063	Myo18b	myosin XVIIIB	gene	DOID:630	genetic disease		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25748484|PMID:28492532|PMID:32184166|PMID:32637634
8777063	Myo18b	myosin XVIIIB	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8777063	Myo18b	myosin XVIIIB	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1349934	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29054765
8777063	Myo18b	myosin XVIIIB	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
8777063	Myo18b	myosin XVIIIB	gene	DOID:9003566	Mesothelioma		ISO	RGD:1349934	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17294804
8777063	Myo18b	myosin XVIIIB	gene	DOID:9003760	Myalgia		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868
8777063	Myo18b	myosin XVIIIB	gene	DOID:9005077	Joint Instability		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:25741868|PMID:28492532
8777063	Myo18b	myosin XVIIIB	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1349934	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29054765
8777063	Myo18b	myosin XVIIIB	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
8777063	Myo18b	myosin XVIIIB	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8777063	Myo18b	myosin XVIIIB	gene	DOID:9007661	Dwarfism		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
8777063	Myo18b	myosin XVIIIB	gene	DOID:9008023	Memory Disorders		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
8777063	Myo18b	myosin XVIIIB	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868
8777063	Myo18b	myosin XVIIIB	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8777063	Myo18b	myosin XVIIIB	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8777063	Myo18b	myosin XVIIIB	gene	DOID:9452	steatotic liver disease		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:25741868
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:0050676	Birt-Hogg-Dube syndrome		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome	PMID:25741868
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Polycystic Kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type	PMID:10369752|PMID:10411676|PMID:10417277|PMID:10655555|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:16199547|PMID:16430766|PMID:17100995|PMID:17303584|PMID:17576681|PMID:17582161|PMID:18837007|PMID:20439752|PMID:21115670|PMID:22008521|PMID:22383692|PMID:22508176|PMID:22863349|PMID:24374109|PMID:25491204|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26950445|PMID:27071085|PMID:27165007|PMID:27499327|PMID:28356211|PMID:28492532|PMID:29321346|PMID:29378535|PMID:29790872|PMID:30333007|PMID:30476936|PMID:30820006|PMID:31317121|PMID:31589614|PMID:31740684|PMID:32457805|PMID:32970388|PMID:33168999|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:35325889|PMID:37028763|PMID:39188533|PMID:9326320|PMID:9536098|PMID:9573526|PMID:9949210
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:0110859	polycystic kidney disease 2		ISO	RGD:1353787	D	RGD:7240710	20180418	OMIM			
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:0110859	polycystic kidney disease 2		ISO	RGD:1353787	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PKD2-related condition | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 2 | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE II | ClinVar Annotator: match by term: Polycystic kidney disease 2	PMID:10023895|PMID:10369752|PMID:10405208|PMID:10411676|PMID:10417277|PMID:10541293|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11438989|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15108213|PMID:15192819|PMID:15772804|PMID:15775720|PMID:1605247|PMID:16199547|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17582161|PMID:17699277|PMID:18077784|PMID:18837007|PMID:20177400|PMID:20301424|PMID:20408813|PMID:20439752|PMID:20950398|PMID:21115670|PMID:22008521|PMID:22034641|PMID:22367170|PMID:22383692|PMID:22508176|PMID:22863349|PMID:23300259|PMID:23376035|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:25741894|PMID:26150605|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26950445|PMID:27071085|PMID:27165007|PMID:27499327|PMID:27567292|PMID:27782177|PMID:27991905|PMID:28191890|PMID:28356211|PMID:28492532|PMID:28522688|PMID:28600779|PMID:29038287|PMID:29321346|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:29790872|PMID:29801666|PMID:30476936|PMID:30816285|PMID:30820006|PMID:30989420|PMID:31317121|PMID:31488014|PMID:31589614|PMID:31740684|PMID:31922066|PMID:32332171|PMID:32457805|PMID:32582798|PMID:32816041|PMID:32970388|PMID:33141305|PMID:33168999|PMID:33226606|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33639313|PMID:34008892|PMID:34101167|PMID:34716216|PMID:34732400|PMID:35627274|PMID:35778421|PMID:36186434|PMID:36307859|PMID:36773205|PMID:36833371|PMID:36938073|PMID:37028763|PMID:37372416|PMID:37509056|PMID:37543885|PMID:37909612|PMID:38971859|PMID:39169606|PMID:39188533|PMID:41523913|PMID:8650545|PMID:9326320|PMID:9402976|PMID:9773786|PMID:9949210
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease	PMID:25741868
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:0110873	holoprosencephaly 9		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar cyst	
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:10534	stomach cancer		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:1074	kidney failure		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kidney failure	
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:10941	intracranial aneurysm	susceptibility	ISO	RGD:1353787	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:12842373|REF_RGD_ID:1580867
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:1115	sarcoma		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:12215	oligohydramnios		ISO	RGD:1353787	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Anhydramnios	PMID:25741868|PMID:35005812
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:12849	autistic disorder		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1353787	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25013951
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:13001	carotid stenosis		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Carotid artery stenosis	PMID:25741868
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:1459	hypothyroidism		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:1682	congenital heart disease		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:178	vascular disease		ISO	RGD:1353787	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25013951
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:25741868
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:2975	cystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cystic renal disease | ClinVar Annotator: match by term: Renal cyst	PMID:10411676|PMID:10417277|PMID:10655555|PMID:10760080|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:14993477|PMID:16430766|PMID:17303584|PMID:17574468|PMID:17582161|PMID:18837007|PMID:19936001|PMID:22008521|PMID:22185115|PMID:22508176|PMID:22863349|PMID:24113780|PMID:24374109|PMID:25491204|PMID:25741868|PMID:26467025|PMID:26950445|PMID:27165007|PMID:27499327|PMID:27535533|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:29529603|PMID:29633482|PMID:30586318|PMID:30639418|PMID:30989420|PMID:31589614|PMID:31740684|PMID:32939031|PMID:32970388|PMID:33437033|PMID:33454723|PMID:33532864|PMID:34101167|PMID:35778421|PMID:36938073|PMID:38527221|PMID:9326320|PMID:9949210
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:3021	acute kidney failure		ISO	RGD:1559992	D	RGD:9068941	20200609	RGD		protein:altered localization	PMID:12089381|REF_RGD_ID:7175293
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:5041	esophageal cancer		ISO	RGD:1353787	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:525	central nervous system vasculitis		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral vasculitis	PMID:25741868
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:5679	retinal disease		ISO	RGD:1353787	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25013951
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:630	genetic disease		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10835625|PMID:11007674|PMID:12707387|PMID:16199547|PMID:17582161|PMID:18837007|PMID:22185115|PMID:22383692|PMID:22863349|PMID:25741868|PMID:26467025|PMID:28356211|PMID:28492532|PMID:29529603|PMID:29790872|PMID:31740684|PMID:32457805|PMID:33639313|PMID:34101167|PMID:37909612
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:8466	retinal degeneration		ISO	RGD:1353787	D	RGD:9068941	20200609	RGD			PMID:16943309|REF_RGD_ID:13524568
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1	PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20881056|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22185115|PMID:22383692|PMID:22508176|PMID:22863349|PMID:22995991|PMID:23300259|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30816285|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32384474|PMID:32457805|PMID:32970388|PMID:33095447|PMID:33532864|PMID:33569422|PMID:33964006|PMID:34101167|PMID:8650545|PMID:9326320|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20881056|PMID:20950398|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30369598|PMID:30639418|PMID:30816285|PMID:30820006|PMID:30989420|PMID:31317121|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32332171|PMID:32384474|PMID:32457805|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33964006|PMID:34101167|PMID:35778421|PMID:8650545|PMID:9326320|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1	PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:18178578|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20439752|PMID:20881056|PMID:20950398|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22367170|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27071085|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30369598|PMID:30639418|PMID:30816285|PMID:30820006|PMID:30989420|PMID:31317121|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32332171|PMID:32384474|PMID:32457805|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33168999|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33639313|PMID:33964006|PMID:34101167|PMID:35778421|PMID:8650545|PMID:9326320|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:18178578|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20439752|PMID:20881056|PMID:20950398|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22367170|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24113780|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27071085|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30369598|PMID:30586318|PMID:30639418|PMID:30816285|PMID:30820006|PMID:30989420|PMID:31056860|PMID:31317121|PMID:31589614|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32332171|PMID:32384474|PMID:32457805|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33168999|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33639313|PMID:33964006|PMID:34101167|PMID:35497784|PMID:35778421|PMID:8650545|PMID:9326320|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	PMID:10405208|PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:17699277|PMID:18178578|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20439752|PMID:20881056|PMID:20950398|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22367170|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24113780|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25646624|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26489027|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27071085|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27768895|PMID:27782177|PMID:27884173|PMID:27894351|PMID:27991905|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29038287|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30369598|PMID:30586318|PMID:30639418|PMID:30816285|PMID:30820006|PMID:30989420|PMID:31056860|PMID:31317121|PMID:31488014|PMID:31589614|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32332171|PMID:32384474|PMID:32457805|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33168999|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33639313|PMID:33964006|PMID:34101167|PMID:35497784|PMID:35778421|PMID:8650545|PMID:9326320|PMID:9402976|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	PMID:10405208|PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:17699277|PMID:18178578|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20439752|PMID:20881056|PMID:20950398|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22367170|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24113780|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25646624|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26489027|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27071085|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27768895|PMID:27782177|PMID:27884173|PMID:27894351|PMID:27991905|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29038287|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:30042192|PMID:30333007|PMID:30369598|PMID:30586318|PMID:30639418|PMID:30816285|PMID:30820006|PMID:30989420|PMID:31056860|PMID:31317121|PMID:31488014|PMID:31589614|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32332171|PMID:32384474|PMID:32457805|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33168999|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33639313|PMID:33964006|PMID:34101167|PMID:35497784|PMID:35778421|PMID:8650545|PMID:9326320|PMID:9402976|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1	PMID:10405208|PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15108213|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:17699277|PMID:18178578|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20177400|PMID:20439752|PMID:20881056|PMID:20950398|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22367170|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24113780|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25646624|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26489027|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27071085|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27768895|PMID:27782177|PMID:27884173|PMID:27894351|PMID:27991905|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29038287|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:30042192|PMID:30333007|PMID:30369598|PMID:30476936|PMID:30586318|PMID:30639418|PMID:30816285|PMID:30820006|PMID:30858458|PMID:30989420|PMID:31056860|PMID:31317121|PMID:31488014|PMID:31514750|PMID:31589614|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32332171|PMID:32384474|PMID:32457805|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33168999|PMID:33315352|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33639313|PMID:33964006|PMID:34101167|PMID:34716216|PMID:34732400|PMID:34733539|PMID:35497784|PMID:35627274|PMID:35778421|PMID:36186434|PMID:36422197|PMID:36938073|PMID:36938085|PMID:36999085|PMID:37028763|PMID:37353797|PMID:37909612|PMID:8650545|PMID:9326320|PMID:9402976|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 | ClinVar Annotator: match by term: autosomal dominant polycystic kidney disease	PMID:10369752|PMID:10541293|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11968093|PMID:12707387|PMID:14993477|PMID:15108213|PMID:16199547|PMID:17100995|PMID:17574468|PMID:17576681|PMID:17582161|PMID:18257781|PMID:18837007|PMID:19158373|PMID:19936001|PMID:20301424|PMID:20439752|PMID:20950398|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22367170|PMID:22383692|PMID:22508176|PMID:22863349|PMID:22995991|PMID:23300259|PMID:24374109|PMID:24611717|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26489027|PMID:26692149|PMID:26950445|PMID:27071085|PMID:27401137|PMID:27499327|PMID:27535533|PMID:27567292|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:29038287|PMID:29321346|PMID:29378535|PMID:29633482|PMID:29790872|PMID:30042192|PMID:30369598|PMID:30476936|PMID:30820006|PMID:30858458|PMID:30989420|PMID:31589614|PMID:31738409|PMID:31740684|PMID:32457805|PMID:32970388|PMID:33168999|PMID:33226606|PMID:33569422|PMID:33639313|PMID:33964006|PMID:34101167|PMID:35497784|PMID:35778421|PMID:36422197|PMID:36938073|PMID:36999085|PMID:37028763|PMID:37372416|PMID:37509056|PMID:38765603|PMID:39188533|PMID:9536098
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: autosomal dominant polycystic kidney disease	PMID:10369752|PMID:10411676|PMID:10417277|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:14993477|PMID:15108213|PMID:16199547|PMID:16430766|PMID:17100995|PMID:17303584|PMID:17576681|PMID:17582161|PMID:18837007|PMID:20301424|PMID:20439752|PMID:20950398|PMID:21115670|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22367170|PMID:22383692|PMID:22508176|PMID:22863349|PMID:23300259|PMID:24374109|PMID:24611717|PMID:25491204|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26489027|PMID:26692149|PMID:26950445|PMID:27071085|PMID:27165007|PMID:27499327|PMID:27567292|PMID:28356211|PMID:28492532|PMID:29038287|PMID:29321346|PMID:29378535|PMID:29633482|PMID:29790872|PMID:30042192|PMID:30369598|PMID:30476936|PMID:30820006|PMID:30989420|PMID:31589614|PMID:31738409|PMID:31740684|PMID:32457805|PMID:32970388|PMID:33168999|PMID:33226606|PMID:33437033|PMID:33569422|PMID:33639313|PMID:34101167|PMID:35497784|PMID:35778421|PMID:36938073|PMID:36999085|PMID:37028763|PMID:37372416|PMID:37509056|PMID:38765603|PMID:39188533|PMID:9326320|PMID:9536098|PMID:9949210
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease	onset	ISO	RGD:1353787	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple	PMID:22863349|REF_RGD_ID:7175273
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1353787	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:9003242	Paresthesia		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysesthesia	PMID:25741868
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1559992	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney (rat)	PMID:12454224|REF_RGD_ID:1580868
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:12842373|PMID:25741868|PMID:26467025|PMID:31317121|PMID:33454723
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8777115	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8777134	Crocc2	ciliary rootlet coiled-coil, rootletin family member 2	gene	DOID:0080600	COVID-19		ISO	RGD:10040878	D	RGD:9068941	20200611	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8777141	Ptp4a2	protein tyrosine phosphatase 4A2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8777141	Ptp4a2	protein tyrosine phosphatase 4A2	gene	DOID:10534	stomach cancer		ISO	RGD:734245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8777141	Ptp4a2	protein tyrosine phosphatase 4A2	gene	DOID:1115	sarcoma		ISO	RGD:734245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8777141	Ptp4a2	protein tyrosine phosphatase 4A2	gene	DOID:1324	lung cancer		ISO	RGD:734245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8777141	Ptp4a2	protein tyrosine phosphatase 4A2	gene	DOID:1909	melanoma		ISO	RGD:734245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8777141	Ptp4a2	protein tyrosine phosphatase 4A2	gene	DOID:4362	cervical cancer		ISO	RGD:734245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8777141	Ptp4a2	protein tyrosine phosphatase 4A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777141	Ptp4a2	protein tyrosine phosphatase 4A2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8777141	Ptp4a2	protein tyrosine phosphatase 4A2	gene	DOID:9003566	Mesothelioma		ISO	RGD:734245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8777141	Ptp4a2	protein tyrosine phosphatase 4A2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8777141	Ptp4a2	protein tyrosine phosphatase 4A2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8777141	Ptp4a2	protein tyrosine phosphatase 4A2	gene	DOID:9775	diastolic heart failure		ISO	RGD:734245	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
8777151	Tex29	testis expressed 29	gene	DOID:10534	stomach cancer		ISO	RGD:1353968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8777151	Tex29	testis expressed 29	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8777151	Tex29	testis expressed 29	gene	DOID:3275	thymoma		ISO	RGD:1353968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8777151	Tex29	testis expressed 29	gene	DOID:5041	esophageal cancer		ISO	RGD:1353968	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8777151	Tex29	testis expressed 29	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777151	Tex29	testis expressed 29	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8777151	Tex29	testis expressed 29	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8777159	Eif4ebp1	eukaryotic translation initiation factor 4E binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8777159	Eif4ebp1	eukaryotic translation initiation factor 4E binding protein 1	gene	DOID:0050746	mantle cell lymphoma		ISO	RGD:1353500	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17148679
8777159	Eif4ebp1	eukaryotic translation initiation factor 4E binding protein 1	gene	DOID:0060058	lymphoma		ISO	RGD:1353500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8777159	Eif4ebp1	eukaryotic translation initiation factor 4E binding protein 1	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1353500	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26297436
8777159	Eif4ebp1	eukaryotic translation initiation factor 4E binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8777159	Eif4ebp1	eukaryotic translation initiation factor 4E binding protein 1	gene	DOID:13515	tuberous sclerosis	treatment	ISO	RGD:620259	D	RGD:9068941	20200609	RGD			PMID:12384518|REF_RGD_ID:1549429
8777159	Eif4ebp1	eukaryotic translation initiation factor 4E binding protein 1	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1353500	D	RGD:9068941	20210903	RGD		human cells in mouse model	PMID:23632475|REF_RGD_ID:150404268
8777159	Eif4ebp1	eukaryotic translation initiation factor 4E binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353500	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8777159	Eif4ebp1	eukaryotic translation initiation factor 4E binding protein 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1353500	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8777159	Eif4ebp1	eukaryotic translation initiation factor 4E binding protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8777159	Eif4ebp1	eukaryotic translation initiation factor 4E binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777159	Eif4ebp1	eukaryotic translation initiation factor 4E binding protein 1	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1353500	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21813464
8777159	Eif4ebp1	eukaryotic translation initiation factor 4E binding protein 1	gene	DOID:9005372	Inflammation		ISO	RGD:1353500	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26297436
8777159	Eif4ebp1	eukaryotic translation initiation factor 4E binding protein 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:620259	D	RGD:9068941	20200609	RGD			PMID:16439989|REF_RGD_ID:10401145
8777159	Eif4ebp1	eukaryotic translation initiation factor 4E binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353500	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19458359
8777166	Cabp4	calcium binding protein 4	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1314493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness	PMID:25741868
8777166	Cabp4	calcium binding protein 4	gene	DOID:0080600	COVID-19		ISO	RGD:1314493	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8777166	Cabp4	calcium binding protein 4	gene	DOID:13911	achromatopsia		ISO	RGD:1314493	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Achromatopsia	PMID:30718709
8777166	Cabp4	calcium binding protein 4	gene	DOID:5723	optic atrophy		ISO	RGD:1314493	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8777166	Cabp4	calcium binding protein 4	gene	DOID:630	genetic disease		ISO	RGD:1314493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8777166	Cabp4	calcium binding protein 4	gene	DOID:8501	fundus dystrophy		ISO	RGD:1314493	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25307992|PMID:25741868|PMID:28041643|PMID:28341476|PMID:28492532|PMID:29525873|PMID:30718709|PMID:31456290|PMID:31964843|PMID:32581362|PMID:34426522|PMID:34758253
8777166	Cabp4	calcium binding protein 4	gene	DOID:9004066	Congenital Stationary Night Blindness 2B		ISO	RGD:1314493	D	RGD:7240710	20180130	OMIM			
8777166	Cabp4	calcium binding protein 4	gene	DOID:9004066	Congenital Stationary Night Blindness 2B		ISO	RGD:1314493	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CABP4-related condition | ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive	PMID:16960802|PMID:19074807|PMID:20157620|PMID:23099293|PMID:25258313|PMID:25307992|PMID:25741868|PMID:28492532|PMID:37734845
8777166	Cabp4	calcium binding protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8777181	Hm13	histocompatibility minor 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8777181	Hm13	histocompatibility minor 13	gene	DOID:10534	stomach cancer		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8777181	Hm13	histocompatibility minor 13	gene	DOID:1115	sarcoma		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8777181	Hm13	histocompatibility minor 13	gene	DOID:1909	melanoma		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8777181	Hm13	histocompatibility minor 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8777181	Hm13	histocompatibility minor 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777181	Hm13	histocompatibility minor 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8777181	Hm13	histocompatibility minor 13	gene	DOID:9002834	Herpesviridae Infections	treatment	ISO	RGD:1319014	D	RGD:9068941	20210115	RGD			PMID:24768597|PMID:31511378|REF_RGD_ID:40903051|REF_RGD_ID:40903053
8777181	Hm13	histocompatibility minor 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8777181	Hm13	histocompatibility minor 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8777181	Hm13	histocompatibility minor 13	gene	DOID:9452	steatotic liver disease		ISO	RGD:1319014	D	RGD:9068941	20210115	RGD		associated with hepatitis	PMID:27142248|REF_RGD_ID:40924634
8777213	Tlk1	tousled like kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8777213	Tlk1	tousled like kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8777213	Tlk1	tousled like kinase 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1321237	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
8777213	Tlk1	tousled like kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8777213	Tlk1	tousled like kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8777213	Tlk1	tousled like kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8777213	Tlk1	tousled like kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8777213	Tlk1	tousled like kinase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8777213	Tlk1	tousled like kinase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8777213	Tlk1	tousled like kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8777213	Tlk1	tousled like kinase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8777213	Tlk1	tousled like kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321237	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8777213	Tlk1	tousled like kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777213	Tlk1	tousled like kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8777213	Tlk1	tousled like kinase 1	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1321237	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17481512
8777213	Tlk1	tousled like kinase 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8777213	Tlk1	tousled like kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8777213	Tlk1	tousled like kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8777213	Tlk1	tousled like kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8777237	Prcd	photoreceptor disc component	gene	DOID:0110405	retinitis pigmentosa 36		ISO	RGD:1603415	D	RGD:7240710	20180130	OMIM			
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:0070648	cherubism		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHERUBISM | ClinVar Annotator: match by term: Cherubism | ClinVar Annotator: match by term: Fibrous dysplasia of jaw	PMID:11381256|PMID:12900899|PMID:14577811|PMID:15507112|PMID:16199547|PMID:16786512|PMID:17321449|PMID:17576681|PMID:18596838|PMID:19017279|PMID:19576004|PMID:20002873|PMID:21045962|PMID:21794028|PMID:22153076|PMID:22153077|PMID:22795151|PMID:23298620|PMID:24033266|PMID:24382142|PMID:24608212|PMID:24916406|PMID:25144740|PMID:25741868|PMID:26064398|PMID:27272835|PMID:28492532|PMID:28644570|PMID:28721660|PMID:30236129|PMID:34573280|PMID:9536098
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:10907	microcephaly		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:28492532
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:11383	cryptorchidism		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unilateral cryptorchidism	PMID:28492532
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:12698	gynecomastia		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gynecomastia	PMID:28492532
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:1682	congenital heart disease		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:28492532
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:1856	cherubism 1		ISO	RGD:1321583	D	RGD:7240710	20180130	OMIM			
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:1856	cherubism 1		ISO	RGD:1321583	D	RGD:8554872	20250821	ClinVar		ClinVar Annotator: match by term: SH3BP2-related disorder	PMID:11381256|PMID:12900899|PMID:17321449|PMID:17576681|PMID:22153076|PMID:23298620|PMID:25741868|PMID:27272835|PMID:28492532|PMID:9536098
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:28492532
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prolonged QT interval	PMID:28492532
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:1321583	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:9002589	Bone Fractures		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:28492532
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:28492532
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:9406	hypopituitarism		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypopituitarism	PMID:28492532
8777274	Sh3bp2	SH3 domain binding protein 2	gene	DOID:9970	obesity		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
8777303	Dach1	dachshund family transcription factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8777303	Dach1	dachshund family transcription factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8777303	Dach1	dachshund family transcription factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8777320	Mcemp1	mast cell expressed membrane protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1604975	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8777320	Mcemp1	mast cell expressed membrane protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1604975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8777320	Mcemp1	mast cell expressed membrane protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8777320	Mcemp1	mast cell expressed membrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777344	Sqle	squalene epoxidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8777344	Sqle	squalene epoxidase	gene	DOID:10211	cholelithiasis		ISO	RGD:736676	D	RGD:9068941	20200609	RGD			PMID:14684588|REF_RGD_ID:1581398
8777344	Sqle	squalene epoxidase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8777344	Sqle	squalene epoxidase	gene	DOID:1115	sarcoma		ISO	RGD:736675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8777344	Sqle	squalene epoxidase	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:736675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
8777344	Sqle	squalene epoxidase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8777344	Sqle	squalene epoxidase	gene	DOID:3275	thymoma		ISO	RGD:736675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8777344	Sqle	squalene epoxidase	gene	DOID:4362	cervical cancer		ISO	RGD:736675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8777344	Sqle	squalene epoxidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777344	Sqle	squalene epoxidase	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:736676	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:25168180|REF_RGD_ID:13782271
8777344	Sqle	squalene epoxidase	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:736675	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11420682
8777344	Sqle	squalene epoxidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8777344	Sqle	squalene epoxidase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8777344	Sqle	squalene epoxidase	gene	DOID:9256	colorectal cancer		ISO	RGD:736675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8777344	Sqle	squalene epoxidase	gene	DOID:9970	obesity		ISO	RGD:736676	D	RGD:9068941	20200609	RGD			PMID:15556298|REF_RGD_ID:1581399
8777360	Atp6v1g3	ATPase H+ transporting V1 subunit G3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8777367	Cebpd	CCAAT enhancer binding protein delta	gene	DOID:5394	prolactinoma		ISO	RGD:2328	D	RGD:9068941	20250109	RGD		protein:decreased expression:pituitary gland	PMID:21980073|REF_RGD_ID:7241005
8777367	Cebpd	CCAAT enhancer binding protein delta	gene	DOID:5394	prolactinoma		ISO	RGD:736554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21980073
8777367	Cebpd	CCAAT enhancer binding protein delta	gene	DOID:5394	prolactinoma		ISO	RGD:736554	D	RGD:9068941	20250109	RGD		protein:decreased expression:pituitary gland	PMID:21980073|REF_RGD_ID:7241005
8777367	Cebpd	CCAAT enhancer binding protein delta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14563831
8777367	Cebpd	CCAAT enhancer binding protein delta	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8777367	Cebpd	CCAAT enhancer binding protein delta	gene	DOID:9004484	Sepsis		ISO	RGD:2328	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle	PMID:11792653|REF_RGD_ID:625506
8777367	Cebpd	CCAAT enhancer binding protein delta	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:736554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8777367	Cebpd	CCAAT enhancer binding protein delta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17234736
8777383	Gfra3	GDNF family receptor alpha 3	gene	DOID:10283	prostate cancer		ISO	RGD:731370	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8777383	Gfra3	GDNF family receptor alpha 3	gene	DOID:10283	prostate cancer		ISO	RGD:731370	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8777383	Gfra3	GDNF family receptor alpha 3	gene	DOID:11446	sciatic neuropathy		ISO	RGD:620502	D	RGD:9068941	20200609	RGD		mRNA:increased expression:sciatic nerve	PMID:10852218|REF_RGD_ID:6218977
8777383	Gfra3	GDNF family receptor alpha 3	gene	DOID:1324	lung cancer		ISO	RGD:731370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8777383	Gfra3	GDNF family receptor alpha 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8777419	Cd300lg	CD300 molecule like family member g	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8777419	Cd300lg	CD300 molecule like family member g	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:0050952	spastic ataxia		ISO	RGD:1603658	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:28492532
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1603658	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:0060249	scoliosis		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:24791903|PMID:25741868|PMID:27148574|PMID:28492532|PMID:29696776
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:0070055	Xia-Gibbs syndrome		ISO	RGD:1603658	D	RGD:7240710	20180130	OMIM			
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:0070055	Xia-Gibbs syndrome		ISO	RGD:1603658	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: AHDC1-related condition | ClinVar Annotator: match by term: AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | ClinVar Annotator: match by term: XIA-GIBBS SYNDROME | ClinVar Annotator: match by term: Xia-Gibbs syndrome	PMID:24791903|PMID:25741868|PMID:25741869|PMID:27148574|PMID:28135719|PMID:28191890|PMID:28492532|PMID:29230160|PMID:29696776|PMID:30858058|PMID:31474318|PMID:31812316|PMID:32256298|PMID:33057194|PMID:33372375|PMID:33644933|PMID:35716097|PMID:38177409|PMID:38225666|PMID:38837156|PMID:4067559
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1603658	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:31474318
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:1059	intellectual disability		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:24791903|PMID:25741868|PMID:27148574|PMID:28492532|PMID:29696776
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:10907	microcephaly		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868|PMID:4067559
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:1826	epilepsy		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Craniosynostosis	PMID:25741868
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:540	strabismus		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:24791903|PMID:25741868|PMID:27148574|PMID:28492532|PMID:29696776
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:630	genetic disease		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24791903|PMID:25741868|PMID:27148574|PMID:28492532|PMID:28518168|PMID:29696776|PMID:30152016|PMID:30729726|PMID:32461654|PMID:34395220
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:9003591	Telecanthus		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603658	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:9004866	Ataxia		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:9005335	Cerebral Visual Impairment and Intellectual Disability		ISO	RGD:1603658	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability	PMID:26350515
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:24791903|PMID:25741868|PMID:27148574|PMID:28492532|PMID:29696776
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:9005616	Micrognathism		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia | ClinVar Annotator: match by term: micrognathia	
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:9007073	Cough		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cough	PMID:28492532
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:9007152	Talipes		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Talipes	
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24791903|PMID:25741868|PMID:27148574|PMID:28492532|PMID:29696776
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:9834	hyperopia		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
8777430	Ahdc1	AT-hook DNA binding motif containing 1	gene	DOID:9970	obesity		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:4067559
8777466	Cimap1b	ciliary microtubule associated protein 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8777466	Cimap1b	ciliary microtubule associated protein 1B	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1606628	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8777466	Cimap1b	ciliary microtubule associated protein 1B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8777466	Cimap1b	ciliary microtubule associated protein 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1606628	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8777466	Cimap1b	ciliary microtubule associated protein 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777466	Cimap1b	ciliary microtubule associated protein 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8777483	Mrc2	mannose receptor C type 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8777483	Mrc2	mannose receptor C type 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8777483	Mrc2	mannose receptor C type 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8777483	Mrc2	mannose receptor C type 2	gene	DOID:1324	lung cancer		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8777483	Mrc2	mannose receptor C type 2	gene	DOID:1909	melanoma		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8777483	Mrc2	mannose receptor C type 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8777483	Mrc2	mannose receptor C type 2	gene	DOID:305	carcinoma		ISO	RGD:1320297	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8777483	Mrc2	mannose receptor C type 2	gene	DOID:3275	thymoma		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8777483	Mrc2	mannose receptor C type 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8777483	Mrc2	mannose receptor C type 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320297	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8777483	Mrc2	mannose receptor C type 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777483	Mrc2	mannose receptor C type 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8777483	Mrc2	mannose receptor C type 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8777483	Mrc2	mannose receptor C type 2	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1320297	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8777483	Mrc2	mannose receptor C type 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1320297	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8777483	Mrc2	mannose receptor C type 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8777483	Mrc2	mannose receptor C type 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8777483	Mrc2	mannose receptor C type 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8777516	Bin1	bridging integrator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8777516	Bin1	bridging integrator 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:22960267|PMID:25741868|PMID:28492532
8777516	Bin1	bridging integrator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8777516	Bin1	bridging integrator 1	gene	DOID:0111216	autosomal recessive centronuclear myopathy		ISO	RGD:732350	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autosomal recessive centronuclear myopathy | ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Myopathy, centronuclear, autosomal recessive	PMID:18414213|PMID:22912834|PMID:24033266|PMID:25741868|PMID:26101835|PMID:26467025|PMID:28492532|PMID:28687524|PMID:31127772
8777516	Bin1	bridging integrator 1	gene	DOID:0111220	centronuclear myopathy 2		ISO	RGD:732350	D	RGD:7240710	20180130	OMIM			
8777516	Bin1	bridging integrator 1	gene	DOID:0111220	centronuclear myopathy 2		ISO	RGD:732350	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BIN1-related condition | ClinVar Annotator: match by term: MYOPATHY, CENTRONUCLEAR, 2 | ClinVar Annotator: match by term: Myopathy, centronuclear, 2	PMID:16199547|PMID:17576681|PMID:17676042|PMID:18414213|PMID:20142620|PMID:22912834|PMID:24033266|PMID:24755653|PMID:25260562|PMID:25262827|PMID:25640679|PMID:25741868|PMID:26101835|PMID:26467025|PMID:28492532|PMID:28687524|PMID:29103045|PMID:29950440|PMID:31127772|PMID:9536098
8777516	Bin1	bridging integrator 1	gene	DOID:10534	stomach cancer		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8777516	Bin1	bridging integrator 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732350	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:21460841|PMID:33589840
8777516	Bin1	bridging integrator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8777516	Bin1	bridging integrator 1	gene	DOID:1324	lung cancer		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8777516	Bin1	bridging integrator 1	gene	DOID:2526	prostate adenocarcinoma		ISO	RGD:732350	D	RGD:9068941	20200609	RGD			PMID:12532338|REF_RGD_ID:1580047
8777516	Bin1	bridging integrator 1	gene	DOID:3275	thymoma		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8777516	Bin1	bridging integrator 1	gene	DOID:3459	breast carcinoma		ISO	RGD:732350	D	RGD:9068941	20200609	RGD			PMID:10652430|REF_RGD_ID:1580043
8777516	Bin1	bridging integrator 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8777516	Bin1	bridging integrator 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:732350	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17676042
8777516	Bin1	bridging integrator 1	gene	DOID:4362	cervical cancer		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8777516	Bin1	bridging integrator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:732350	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8777516	Bin1	bridging integrator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777516	Bin1	bridging integrator 1	gene	DOID:630	genetic disease		ISO	RGD:732350	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8777516	Bin1	bridging integrator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8777516	Bin1	bridging integrator 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:732350	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30503753
8777516	Bin1	bridging integrator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8777516	Bin1	bridging integrator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8777558	Akap14	A-kinase anchoring protein 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8777558	Akap14	A-kinase anchoring protein 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8777568	Fam194c	family with sequence similarity 149 member C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777568	Fam194c	family with sequence similarity 149 member C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343380	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8777594	Six3	SIX homeobox 3	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:733474	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
8777594	Six3	SIX homeobox 3	gene	DOID:0110872	holoprosencephaly 2		ISO	RGD:733474	D	RGD:7240710	20180130	OMIM			
8777594	Six3	SIX homeobox 3	gene	DOID:0110872	holoprosencephaly 2		ISO	RGD:733474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HOLOPROSENCEPHALY 2 | ClinVar Annotator: match by term: Holoprosencephaly 2 | ClinVar Annotator: match by term: SIX3-related condition	PMID:10369266|PMID:14711609|PMID:15221788|PMID:15523651|PMID:17001667|PMID:17001700|PMID:18791198|PMID:18989625|PMID:19346217|PMID:19353631|PMID:20301702|PMID:20531442|PMID:21940735|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34008892|PMID:34421500|PMID:35951005
8777594	Six3	SIX homeobox 3	gene	DOID:0111380	solitary median maxillary central incisor		ISO	RGD:733474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Single upper central incisor	PMID:18791198|PMID:19346217|PMID:20157829|PMID:26080100|PMID:26467025|PMID:28492532
8777594	Six3	SIX homeobox 3	gene	DOID:3883	Lynch syndrome		ISO	RGD:156450125	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Lynch syndrome	PMID:28492532
8777594	Six3	SIX homeobox 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8777594	Six3	SIX homeobox 3	gene	DOID:4621	holoprosencephaly		ISO	RGD:733474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly	PMID:10369266|PMID:15523651|PMID:19346217
8777594	Six3	SIX homeobox 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777594	Six3	SIX homeobox 3	gene	DOID:630	genetic disease		ISO	RGD:733474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16323008|PMID:25741868|PMID:28492532
8777594	Six3	SIX homeobox 3	gene	DOID:9006637	Schizencephaly		ISO	RGD:733474	D	RGD:7240710	20190327	OMIM			
8777594	Six3	SIX homeobox 3	gene	DOID:9006637	Schizencephaly		ISO	RGD:733474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizencephaly	PMID:25741868
8777594	Six3	SIX homeobox 3	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:733474	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
8777602	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8777602	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8777602	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:0112005	immunodeficiency 70		ISO	RGD:1314824	D	RGD:7240710	20200812	OMIM			
8777602	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:0112005	immunodeficiency 70		ISO	RGD:1314824	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 70 | ClinVar Annotator: match by term: Immunodeficiency 70	PMID:25741868|PMID:32499645
8777602	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8777602	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1314824	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8777602	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:1909	melanoma		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8777602	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8777602	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8777602	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777602	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8777602	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8777602	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208208
8777602	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8777629	Clec3b	C-type lectin domain family 3 member B	gene	DOID:0070441	retinal macular dystrophy 4		ISO	RGD:1602501	D	RGD:7240710	20220810	OMIM			
8777629	Clec3b	C-type lectin domain family 3 member B	gene	DOID:0070441	retinal macular dystrophy 4		ISO	RGD:1602501	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MACULAR DYSTROPHY, RETINAL, 4	
8777629	Clec3b	C-type lectin domain family 3 member B	gene	DOID:13300	Scheuermann's disease		ISO	RGD:1553639	D	RGD:9068941	20220825	MouseDO		OMIM:181440	
8777629	Clec3b	C-type lectin domain family 3 member B	gene	DOID:8398	osteoarthritis	disease_progression	ISO	RGD:1602501	D	RGD:9068941	20200609	RGD			PMID:15334463|REF_RGD_ID:1625347
8777629	Clec3b	C-type lectin domain family 3 member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:0050127	sinusitis		ISO	RGD:70824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18391768
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:70824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive	PMID:25941349
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:70824	D	RGD:9068941	20200609	RGD		protein:increased expression:tongue:	PMID:20848408|REF_RGD_ID:8548612
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:70824	D	RGD:9068941	20200609	RGD		protein:increased expression, altered expression:mouth mucosa:	PMID:20662906|REF_RGD_ID:8548617
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:70824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:10894	D	RGD:9068941	20220825	MouseDO			
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:70824	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:0070322	childhood hepatocellular carcinoma		ISO	RGD:70824	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC	
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	disease_progression	ISO	RGD:10894	D	RGD:9068941	20200609	RGD			PMID:24845607|REF_RGD_ID:14694829
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:0110539	autosomal recessive nonsyndromic deafness 97		ISO	RGD:70824	D	RGD:7240710	20260617	OMIM			
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:0110539	autosomal recessive nonsyndromic deafness 97		ISO	RGD:70824	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 97	PMID:10327054|PMID:14559814|PMID:21774103|PMID:21970370|PMID:22703879|PMID:23213094|PMID:24728327|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:26700204|PMID:28259294|PMID:28492532|PMID:29641532|PMID:29684080|PMID:30093976|PMID:32770124|PMID:32934698|PMID:37277882|PMID:9563489
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:0111597	distal arthrogryposis type 1A		ISO	RGD:70824	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A	
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:10286	prostate carcinoma	disease_progression	ISO	RGD:70824	D	RGD:9068941	20200609	RGD		protein:increased expression:primary tumor, metastatic carcinoma (human)	PMID:7639332|REF_RGD_ID:2317554
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:1059	intellectual disability		ISO	RGD:70824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:11119	Gilles de la Tourette syndrome		ISO	RGD:10894	D	RGD:9068941	20220825	MouseDO		OMIM:137580	
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:1115	sarcoma		ISO	RGD:70824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:11714	gestational diabetes		ISO	RGD:10894	D	RGD:9068941	20220825	MouseDO			
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:12236	primary biliary cholangitis	severity	ISO	RGD:10894	D	RGD:9068941	20200609	RGD			PMID:19208365|REF_RGD_ID:14694826
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:12849	autistic disorder		ISO	RGD:70824	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:17053076|PMID:21328570
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:12849	autistic disorder		ISO	RGD:70824	D	RGD:9068941	20250724	RGD		AUTS1, OMIM:608636	PMID:17053076|REF_RGD_ID:1600124
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:1324	lung cancer		ISO	RGD:70824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:13543	hyperparathyroidism		ISO	RGD:70824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperparathyroidism	PMID:25741868
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:1561	cognitive disorder		ISO	RGD:70824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20080979
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:1612	breast cancer		ISO	RGD:10894	D	RGD:9068941	20220825	MouseDO		OMIM:114480	
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:70824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22948846
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:1790	malignant mesothelioma		ISO	RGD:70824	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:1793	pancreatic cancer		ISO	RGD:3082	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas (rat)	PMID:9211490|REF_RGD_ID:2317613
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:1793	pancreatic cancer	severity	ISO	RGD:70824	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas (human)	PMID:15448002|REF_RGD_ID:2317235
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:70824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:2349	arteriosclerosis		ISO	RGD:70824	D	RGD:9068941	20200609	RGD		protein:increased expression:femoral artery, atherosclerotic lesions (human)	PMID:17405187|REF_RGD_ID:2317493
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:2394	ovarian cancer		ISO	RGD:70824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:299	adenocarcinoma		ISO	RGD:70824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20934974|PMID:22042947
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:3008	invasive ductal carcinoma	severity	ISO	RGD:70824	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor (human)	PMID:10590366|REF_RGD_ID:2317607
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:3021	acute kidney failure		ISO	RGD:3082	D	RGD:9068941	20200609	RGD		protein:increased expression:renal parenchyma (rat)	PMID:17940345|REF_RGD_ID:2317469
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:305	carcinoma		ISO	RGD:70824	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:20661229
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:3068	glioblastoma		ISO	RGD:70824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22162573
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:3069	malignant astrocytoma		ISO	RGD:70824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11223164
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:3070	high grade glioma		ISO	RGD:70824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:3347	osteosarcoma		ISO	RGD:70824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22235915
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:3459	breast carcinoma		ISO	RGD:70824	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast	PMID:21774103|PMID:21970370|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28259294|PMID:28492532|PMID:29641532
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:70824	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreatic duct (human)	PMID:7866999|REF_RGD_ID:2317530
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:70824	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Agenesis of hemidiaphragm	PMID:14559814|PMID:21970370|PMID:22703879|PMID:24728327|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:28492532|PMID:32934698
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:3905	lung carcinoma		ISO	RGD:70824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung carcinoma	PMID:26637977|PMID:26892698|PMID:27022036|PMID:27993330|PMID:30343896|PMID:31221203|PMID:35855460
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:70824	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Squamous Cell Lung Carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of lung	PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:70824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21623265|PMID:21815704|PMID:22787409|PMID:24688052
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:70824	D	RGD:9068941	20200609	RGD			PMID:24092988|REF_RGD_ID:13434906
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:70824	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma	PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29360161|PMID:29641532|PMID:30093976|PMID:30530636|PMID:32934698|PMID:33588785|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:70824	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma	PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26700204|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29202410|PMID:29360161|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32830346|PMID:32934698|PMID:33588785|PMID:33606809|PMID:34646395|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:70824	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma with paraneoplastic erythrocytosis | ClinVar Annotator: match by term: Renal cell carcinoma, somatic	PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26700204|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:28961830|PMID:29084058|PMID:29202410|PMID:29219214|PMID:29360161|PMID:29641532|PMID:29684080|PMID:29978187|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:70824	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS | ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic	PMID:10327054|PMID:10417759|PMID:10433944|PMID:10498872|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26700204|PMID:26718692|PMID:26833332|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:28961830|PMID:28975465|PMID:29084058|PMID:29202410|PMID:29219214|PMID:29360161|PMID:29641532|PMID:29684080|PMID:29978187|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32770124|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:35264596|PMID:35441217|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:70824	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS | ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic	PMID:10327054|PMID:10417759|PMID:10433944|PMID:10498872|PMID:11042681|PMID:11354004|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26700204|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:28961830|PMID:28975465|PMID:29084058|PMID:29202410|PMID:29219214|PMID:29341112|PMID:29360161|PMID:29471113|PMID:29483209|PMID:29562902|PMID:29641532|PMID:29684080|PMID:29978187|PMID:30093976|PMID:30530636|PMID:31169336|PMID:31668570|PMID:31752449|PMID:31874108|PMID:31942412|PMID:32091409|PMID:32770124|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33437521|PMID:33588785|PMID:33606809|PMID:34389035|PMID:34646395|PMID:34882875|PMID:35264596|PMID:35441217|PMID:37086329|PMID:37529773|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:70824	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: OGG1-related condition | ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic	PMID:10327054|PMID:10417759|PMID:10433944|PMID:10498872|PMID:11042681|PMID:11354004|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26700204|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:28961830|PMID:28975465|PMID:29084058|PMID:29202410|PMID:29219214|PMID:29324814|PMID:29341112|PMID:29360161|PMID:29471113|PMID:29483209|PMID:29562902|PMID:29641532|PMID:29674709|PMID:29684080|PMID:29978187|PMID:30093976|PMID:30530636|PMID:31169336|PMID:31668570|PMID:31752449|PMID:31874108|PMID:31942412|PMID:32091409|PMID:32214092|PMID:32770124|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33437521|PMID:33588785|PMID:33606809|PMID:34389035|PMID:34646395|PMID:34882875|PMID:35264596|PMID:35441217|PMID:35980532|PMID:37086329|PMID:37529773|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:70824	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic	PMID:10327054|PMID:10417759|PMID:10433944|PMID:11042681|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:16199547|PMID:17576681|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:24658158|PMID:24728327|PMID:25605252|PMID:25636233|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:26700204|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28492532|PMID:28603720|PMID:28961830|PMID:28975465|PMID:29219214|PMID:29641532|PMID:29674709|PMID:29684080|PMID:29978187|PMID:30093976|PMID:32091409|PMID:32770124|PMID:32830346|PMID:32934698|PMID:34646395|PMID:35264596|PMID:35441217|PMID:35980532|PMID:36113475|PMID:37086329|PMID:37277882|PMID:9140397|PMID:9536098|PMID:9563489
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:4465	papillary renal cell carcinoma		ISO	RGD:70824	D	RGD:7240710	20260617	OMIM			
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:4465	papillary renal cell carcinoma		ISO	RGD:70824	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1	PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28492532|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29360161|PMID:29641532|PMID:30093976|PMID:30530636|PMID:32934698|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:4465	papillary renal cell carcinoma		ISO	RGD:70824	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1	PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28476232|PMID:28492532|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29360161|PMID:29641532|PMID:30093976|PMID:30530636|PMID:32934698|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:4465	papillary renal cell carcinoma		ISO	RGD:70824	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1	PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16434318|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28476232|PMID:28492532|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29202410|PMID:29360161|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30530636|PMID:32934698|PMID:33255238|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:4465	papillary renal cell carcinoma		ISO	RGD:70824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: RENAL CELL CARCINOMA, PAPILLARY, 1 | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1	PMID:10327054|PMID:10417759|PMID:10433944|PMID:10498872|PMID:11354004|PMID:11927612|PMID:15371818|PMID:17576681|PMID:19861919|PMID:22717761|PMID:24436047|PMID:24658158|PMID:25640679|PMID:25741868|PMID:27993330|PMID:28492532|PMID:29202410|PMID:34166060|PMID:34882875|PMID:35264596|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9826708
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:4552	large cell carcinoma	severity	ISO	RGD:70824	D	RGD:9068941	20200609	RGD			PMID:20019837|REF_RGD_ID:2317441
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:70824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:3082	D	RGD:9068941	20200609	RGD		protein:increased expression:liver, biliary epithelium (rat)	PMID:14656942|REF_RGD_ID:2317601
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:70824	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:liver, carcinoma (human)	PMID:16818635|REF_RGD_ID:2317578
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:4977	lymphedema		ISO	RGD:70824	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Lymphedema | ClinVar Annotator: match by term: Lymphoedema	PMID:18564920|PMID:24339735|PMID:24728327|PMID:25637381|PMID:25741868|PMID:28492532|PMID:30530636
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:4989	pancreatitis		ISO	RGD:3082	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas (rat)	PMID:11737224|REF_RGD_ID:2317606
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:70824	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:5419	schizophrenia		ISO	RGD:70824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20080979
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:70824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:5577	gastrinoma	severity	ISO	RGD:70824	D	RGD:9068941	20200609	RGD		associated with Zollinger-Ellison Syndrome; mRNA:increased expression:tumor (human)	PMID:12114431|REF_RGD_ID:2317605
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:70824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70824	D	RGD:7240710	20260617	OMIM			
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70824	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: Hepatoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA	PMID:10327054|PMID:14559814|PMID:21774103|PMID:21970370|PMID:22703879|PMID:23213094|PMID:24728327|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:28259294|PMID:28492532|PMID:29641532|PMID:32770124|PMID:32934698|PMID:9563489
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:70824	D	RGD:9068941	20220630	RGD		protein:increased expression:liver (human)	PMID:29303510|REF_RGD_ID:152995524
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:769	neuroblastoma		ISO	RGD:70824	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROBLASTOMA	
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:7998	hyperthyroidism		ISO	RGD:70824	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:824	periodontitis		ISO	RGD:3082	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:gingival pocket (rat)	PMID:16827730|REF_RGD_ID:2317520
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:70824	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Classic Hodgkin lymphoma	PMID:14559814|PMID:21970370|PMID:22703879|PMID:24728327|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:28492532|PMID:32934698
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9000011	Gallbladder Neoplasms	severity	ISO	RGD:70824	D	RGD:9068941	20200609	RGD		protein:increased expression:gallbladder (human)	PMID:19956499|REF_RGD_ID:2317582
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:3082	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:spinal cord (rat)	PMID:17549731|REF_RGD_ID:2317487
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:70824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29426936
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:70824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22042947
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:70824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22042947|PMID:22729845
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9000722	Animal Hepatitis		ISO	RGD:3082	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:8781331|REF_RGD_ID:2317559
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:70824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20080979|PMID:21225626
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:70824	D	RGD:9068941	20200609	RGD		associated with Squamous Cell Carcinoma of the Tongue;	PMID:22704061|REF_RGD_ID:8548616
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9001472	Nasal Polyps		ISO	RGD:70824	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:nasal cavity mucosa:	PMID:16982975|REF_RGD_ID:8548613
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3082	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver (rat)	PMID:16958060|REF_RGD_ID:2317516
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:70824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11956651
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9002127	Osteofibrous Dysplasia		ISO	RGD:70824	D	RGD:7240710	20260617	OMIM			
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9002127	Osteofibrous Dysplasia		ISO	RGD:70824	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Osteofibrous dysplasia | ClinVar Annotator: match by term: Tibia, bowing of, with pseudarthrosis and pectus excavatum	PMID:10327054|PMID:11042681|PMID:12920089|PMID:14559814|PMID:15592501|PMID:21774103|PMID:21970370|PMID:22703879|PMID:23213094|PMID:24728327|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:28259294|PMID:28492532|PMID:29641532|PMID:32770124|PMID:32934698|PMID:9563489
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9002242	Distal Arthrogryposis Type 11		ISO	RGD:70824	D	RGD:7240710	20260617	OMIM			
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9002242	Distal Arthrogryposis Type 11		ISO	RGD:70824	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arthrogryposis, distal, type 11	PMID:10327054|PMID:14559814|PMID:21774103|PMID:21970370|PMID:22703879|PMID:23213094|PMID:24728327|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:28259294|PMID:28492532|PMID:29641532|PMID:32770124|PMID:32934698|PMID:9563489
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:70824	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:multiple (human)	PMID:9140397|REF_RGD_ID:1600122
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:70824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:70824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20661229
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9002936	Bile Duct Neoplasms		ISO	RGD:70824	D	RGD:9068941	20200609	RGD		protein:increased expression:intrahepatic bile duct (human)	PMID:15892172|REF_RGD_ID:2317585
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9003936	Cardiomegaly		ISO	RGD:3082	D	RGD:9068941	20200609	RGD		protein:increased expression:ventricle (rat)	PMID:10489112|REF_RGD_ID:2317547
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3082	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina (rat)	PMID:17113948|REF_RGD_ID:2317505
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9004217	Nerve Sheath Neoplasms	disease_progression	ISO	RGD:70824	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor (human)	PMID:9308731|REF_RGD_ID:2317564
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:70824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15654357
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:3082	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:17009398|REF_RGD_ID:2317515
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:70824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20934974
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9005369	Hepatomegaly		ISO	RGD:70824	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:32045588
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9005496	Diaphragmatic Hernia 1		ISO	RGD:70824	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diaphragmatic hernia 1	PMID:14559814|PMID:21970370|PMID:22703879|PMID:24728327|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:28492532|PMID:32934698
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3082	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney, tubule, epithelium (rat)	PMID:8997394|REF_RGD_ID:2317555
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9006205	Animal Disease Models		ISO	RGD:70824	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:32045588
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9006395	Copper-Overload Cirrhosis		ISO	RGD:70824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22879914
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:70824	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:32045588
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:70824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9006972	Renal Cell Carcinoma 1		ISO	RGD:70824	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Renal cell carcinoma 1	PMID:14559814|PMID:21774103|PMID:21970370|PMID:22703879|PMID:24728327|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:28259294|PMID:28294470|PMID:28492532|PMID:28603720|PMID:29641532|PMID:29674709|PMID:29684080|PMID:30093976|PMID:32934698
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70824	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21904579|PMID:21970370|PMID:22703879|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24728327|PMID:25394175|PMID:25605252|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:29324814|PMID:29641532|PMID:30093976|PMID:32934698|PMID:33588785|PMID:9140397|PMID:9326629|PMID:9536098
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70824	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26637977|PMID:26700204|PMID:26718692|PMID:26887047|PMID:26892698|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29202410|PMID:29324814|PMID:29360161|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70824	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10327054|PMID:10417759|PMID:10433944|PMID:10498872|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15485908|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21400509|PMID:21642981|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23610116|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26637977|PMID:26700204|PMID:26718692|PMID:26887047|PMID:26892698|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:28975465|PMID:29084058|PMID:29202410|PMID:29324814|PMID:29360161|PMID:29641532|PMID:29684080|PMID:29978187|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32770124|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:35264596|PMID:35441217|PMID:9024657|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70824	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10327054|PMID:10417759|PMID:10433944|PMID:10498872|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15485908|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21400509|PMID:21642981|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23610116|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25326637|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26637977|PMID:26700204|PMID:26718692|PMID:26887047|PMID:26892698|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:28975465|PMID:29084058|PMID:29202410|PMID:29219214|PMID:29324814|PMID:29360161|PMID:29641532|PMID:29684080|PMID:29978187|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32770124|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:35264596|PMID:35441217|PMID:9024657|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70824	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10327054|PMID:10417759|PMID:10433944|PMID:10498872|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15485908|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21400509|PMID:21642981|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23610116|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26637977|PMID:26700204|PMID:26718692|PMID:26887047|PMID:26892698|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:28975465|PMID:29084058|PMID:29202410|PMID:29219214|PMID:29324814|PMID:29360161|PMID:29641532|PMID:29684080|PMID:29978187|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32770124|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:35264596|PMID:35441217|PMID:9024657|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70824	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10327054|PMID:10417759|PMID:10433944|PMID:10498872|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15485908|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21400509|PMID:21642981|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23610116|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26637977|PMID:26700204|PMID:26718692|PMID:26887047|PMID:26892698|PMID:27153395|PMID:27666373|PMID:27696107|PMID:27854218|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:28975465|PMID:29084058|PMID:29202410|PMID:29219214|PMID:29324814|PMID:29360161|PMID:29641532|PMID:29684080|PMID:29978187|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32770124|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:35264596|PMID:35441217|PMID:9024657|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70824	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10327054|PMID:10417759|PMID:10433944|PMID:10498872|PMID:11042681|PMID:11354004|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15485908|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21400509|PMID:21642981|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26637977|PMID:26700204|PMID:26718692|PMID:26887047|PMID:26892698|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:28975465|PMID:29084058|PMID:29202410|PMID:29219214|PMID:29324814|PMID:29341112|PMID:29360161|PMID:29471113|PMID:29483209|PMID:29562902|PMID:29641532|PMID:29674709|PMID:29684080|PMID:29978187|PMID:30093976|PMID:30530636|PMID:31169336|PMID:31668570|PMID:31752449|PMID:31874108|PMID:31942412|PMID:32091409|PMID:32214092|PMID:32770124|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33437521|PMID:33588785|PMID:33606809|PMID:34389035|PMID:34646395|PMID:34882875|PMID:35264596|PMID:35441217|PMID:37086329|PMID:37529773|PMID:9024657|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70824	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10327054|PMID:10417759|PMID:10433944|PMID:10498872|PMID:11042681|PMID:11354004|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15485908|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21270786|PMID:21400509|PMID:21642981|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26637977|PMID:26700204|PMID:26718692|PMID:26887047|PMID:26892698|PMID:27153395|PMID:27666373|PMID:27696107|PMID:27981572|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:28975465|PMID:29084058|PMID:29202410|PMID:29219214|PMID:29324814|PMID:29341112|PMID:29360161|PMID:29471113|PMID:29483209|PMID:29562902|PMID:29641532|PMID:29674709|PMID:29684080|PMID:29978187|PMID:30093976|PMID:30530636|PMID:31169336|PMID:31668570|PMID:31752449|PMID:31874108|PMID:31942412|PMID:32091409|PMID:32214092|PMID:32770124|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33437521|PMID:33588785|PMID:33606809|PMID:34389035|PMID:34646395|PMID:34882875|PMID:35264596|PMID:35441217|PMID:35980532|PMID:37086329|PMID:37529773|PMID:9024657|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70824	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10327054|PMID:10433944|PMID:10871851|PMID:11042681|PMID:11354004|PMID:12920089|PMID:14559814|PMID:15485908|PMID:15592501|PMID:16199547|PMID:17576681|PMID:21400509|PMID:21642981|PMID:21774103|PMID:21970370|PMID:23213094|PMID:24436047|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26700204|PMID:26718692|PMID:27993330|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28492532|PMID:28603720|PMID:29202410|PMID:29324814|PMID:29641532|PMID:29684080|PMID:30093976|PMID:32770124|PMID:33588785|PMID:33606809|PMID:34166060|PMID:34882875|PMID:35264596|PMID:37086329|PMID:37277882|PMID:9024657|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9826708|PMID:9826715
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70824	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10327054|PMID:10433944|PMID:10871851|PMID:11042681|PMID:11354004|PMID:12920089|PMID:14559814|PMID:15485908|PMID:15592501|PMID:16189274|PMID:16199547|PMID:17576681|PMID:18564920|PMID:20670955|PMID:21400509|PMID:21642981|PMID:21774103|PMID:21970370|PMID:22703879|PMID:24033266|PMID:24436047|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26700204|PMID:27153395|PMID:27993330|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28492532|PMID:28603720|PMID:28619094|PMID:29202410|PMID:29324814|PMID:29641532|PMID:29684080|PMID:30093976|PMID:33588785|PMID:33606809|PMID:34166060|PMID:34882875|PMID:35264596|PMID:37086329|PMID:37277882|PMID:9024657|PMID:9326629|PMID:9536098|PMID:9826708|PMID:9826715
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70824	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10327054|PMID:10433944|PMID:10871851|PMID:11042681|PMID:11354004|PMID:12920089|PMID:14559814|PMID:15485908|PMID:15592501|PMID:16199547|PMID:17576681|PMID:21400509|PMID:21642981|PMID:21774103|PMID:21970370|PMID:22703879|PMID:23213094|PMID:24436047|PMID:24728327|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:26700204|PMID:27993330|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28492532|PMID:28603720|PMID:29202410|PMID:29324814|PMID:29641532|PMID:29674709|PMID:29684080|PMID:30093976|PMID:32770124|PMID:32934698|PMID:33588785|PMID:33606809|PMID:34166060|PMID:34882875|PMID:35264596|PMID:37086329|PMID:37277882|PMID:9024657|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9826708|PMID:9826715
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9007702	Carcinogenesis		ISO	RGD:70824	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:32045588
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:3082	D	RGD:9068941	20200609	RGD		DNA:amplification	PMID:11719459|REF_RGD_ID:70557
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9008105	Cystic, Mucinous, and Serous Neoplasms		ISO	RGD:70824	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas, liver, epithelium (human)	PMID:18208800|REF_RGD_ID:2317574
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:70824	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:colon mucosa (human)	PMID:9815967|REF_RGD_ID:2317534
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:70824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22879914
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9008510	Chronic Hepatitis	severity	ISO	RGD:70824	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:8778194|REF_RGD_ID:14694827
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:70824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22683780
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:916	liver benign neoplasm	onset	ISO	RGD:3082	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:neoplastic liver (rat)	PMID:11956651|REF_RGD_ID:2317546
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:70824	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9452	steatotic liver disease		ISO	RGD:70824	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:32045588
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9538	multiple myeloma		ISO	RGD:70824	D	RGD:9068941	20200609	RGD			PMID:11830493|REF_RGD_ID:2317526
8777648	Met	MET proto-oncogene, receptor tyrosine kinase	gene	DOID:9834	hyperopia		ISO	RGD:70824	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532
8777679	Insrr	insulin receptor related receptor	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1346961	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
8777715	Cfap43	cilia and flagella associated protein 43	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8777715	Cfap43	cilia and flagella associated protein 43	gene	DOID:0070170	spermatogenic failure 19		ISO	RGD:1350133	D	RGD:7240710	20190315	OMIM			
8777715	Cfap43	cilia and flagella associated protein 43	gene	DOID:0070170	spermatogenic failure 19		ISO	RGD:1350133	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 19 | ClinVar Annotator: match by term: Spermatogenic failure 19	PMID:25741868|PMID:29449551
8777715	Cfap43	cilia and flagella associated protein 43	gene	DOID:0070687	normal pressure hydrocephalus 1		ISO	RGD:1350133	D	RGD:7240710	20260506	OMIM			
8777715	Cfap43	cilia and flagella associated protein 43	gene	DOID:0070687	normal pressure hydrocephalus 1		ISO	RGD:1350133	D	RGD:8554872	20260505	ClinVar		ClinVar Annotator: match by term: CFAP43-related condition	PMID:25741868|PMID:28492532
8777715	Cfap43	cilia and flagella associated protein 43	gene	DOID:10283	prostate cancer		ISO	RGD:1350133	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8777715	Cfap43	cilia and flagella associated protein 43	gene	DOID:10283	prostate cancer		ISO	RGD:1350133	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8777715	Cfap43	cilia and flagella associated protein 43	gene	DOID:10534	stomach cancer		ISO	RGD:1350133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8777715	Cfap43	cilia and flagella associated protein 43	gene	DOID:1115	sarcoma		ISO	RGD:1350133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8777715	Cfap43	cilia and flagella associated protein 43	gene	DOID:1324	lung cancer		ISO	RGD:1350133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8777715	Cfap43	cilia and flagella associated protein 43	gene	DOID:14228	oligospermia		ISO	RGD:1350133	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Oligozoospermia	PMID:25741868|PMID:28552195|PMID:29449551|PMID:31004071
8777715	Cfap43	cilia and flagella associated protein 43	gene	DOID:1572	normal pressure hydrocephalus		ISO	RGD:1350133	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Normal pressure hydrocephalus | ClinVar Annotator: match by term: normal pressure hydrocephalus	PMID:25741868|PMID:29449551
8777715	Cfap43	cilia and flagella associated protein 43	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8777715	Cfap43	cilia and flagella associated protein 43	gene	DOID:5041	esophageal cancer		ISO	RGD:1350133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8777715	Cfap43	cilia and flagella associated protein 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777715	Cfap43	cilia and flagella associated protein 43	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8777715	Cfap43	cilia and flagella associated protein 43	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8777765	Kbtbd8	kelch repeat and BTB domain containing 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8777776	Rnf103	ring finger protein 103	gene	DOID:1596	depressive disorder		ISO	RGD:620586	D	RGD:9068941	20200609	RGD			PMID:11071867|REF_RGD_ID:634523
8777776	Rnf103	ring finger protein 103	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1349364	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8777792	Trerf1	transcriptional regulating factor 1	gene	DOID:0060058	lymphoma		ISO	RGD:1316196	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8777792	Trerf1	transcriptional regulating factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8777792	Trerf1	transcriptional regulating factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8777792	Trerf1	transcriptional regulating factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8777792	Trerf1	transcriptional regulating factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8777792	Trerf1	transcriptional regulating factor 1	gene	DOID:1909	melanoma		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8777792	Trerf1	transcriptional regulating factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8777792	Trerf1	transcriptional regulating factor 1	gene	DOID:3070	high grade glioma		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8777792	Trerf1	transcriptional regulating factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8777792	Trerf1	transcriptional regulating factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316196	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8777792	Trerf1	transcriptional regulating factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8777792	Trerf1	transcriptional regulating factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777792	Trerf1	transcriptional regulating factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8777792	Trerf1	transcriptional regulating factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8777792	Trerf1	transcriptional regulating factor 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316196	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19075277
8777792	Trerf1	transcriptional regulating factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8777792	Trerf1	transcriptional regulating factor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8777792	Trerf1	transcriptional regulating factor 1	gene	DOID:9970	obesity		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:27431290
8777817	Ngdn	neuroguidin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8777817	Ngdn	neuroguidin	gene	DOID:10534	stomach cancer		ISO	RGD:1320980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8777817	Ngdn	neuroguidin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8777817	Ngdn	neuroguidin	gene	DOID:1909	melanoma		ISO	RGD:1320980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8777817	Ngdn	neuroguidin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8777817	Ngdn	neuroguidin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8777817	Ngdn	neuroguidin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8777817	Ngdn	neuroguidin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777817	Ngdn	neuroguidin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8777817	Ngdn	neuroguidin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8777832	Cfap70	cilia and flagella associated protein 70	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8777832	Cfap70	cilia and flagella associated protein 70	gene	DOID:0070311	oligoasthenoteratozoospermia		ISO	RGD:1316852	D	RGD:9068941	20240229	MouseDO			
8777832	Cfap70	cilia and flagella associated protein 70	gene	DOID:0111912	spermatogenic failure 41		ISO	RGD:1316851	D	RGD:7240710	20191211	OMIM			
8777832	Cfap70	cilia and flagella associated protein 70	gene	DOID:0111912	spermatogenic failure 41		ISO	RGD:1316851	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 41	
8777832	Cfap70	cilia and flagella associated protein 70	gene	DOID:1324	lung cancer		ISO	RGD:1316851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8777832	Cfap70	cilia and flagella associated protein 70	gene	DOID:3275	thymoma		ISO	RGD:1316851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8777832	Cfap70	cilia and flagella associated protein 70	gene	DOID:4362	cervical cancer		ISO	RGD:1316851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8777832	Cfap70	cilia and flagella associated protein 70	gene	DOID:5041	esophageal cancer		ISO	RGD:1316851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8777832	Cfap70	cilia and flagella associated protein 70	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777832	Cfap70	cilia and flagella associated protein 70	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8777832	Cfap70	cilia and flagella associated protein 70	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8777879	Qrfpr	pyroglutamylated RFamide peptide receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8777879	Qrfpr	pyroglutamylated RFamide peptide receptor	gene	DOID:0080010	bone structure disease		ISO	RGD:1332510	D	RGD:9068941	20220825	MouseDO			
8777879	Qrfpr	pyroglutamylated RFamide peptide receptor	gene	DOID:1324	lung cancer		ISO	RGD:1351393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8777879	Qrfpr	pyroglutamylated RFamide peptide receptor	gene	DOID:2394	ovarian cancer		ISO	RGD:1351393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8777879	Qrfpr	pyroglutamylated RFamide peptide receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:1351393	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8777895	Pitx2	paired like homeodomain 2	gene	DOID:0050647	Arts syndrome		ISO	RGD:731390	D	RGD:9068941	20200609	RGD		DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human)	PMID:17701896|REF_RGD_ID:12910562
8777895	Pitx2	paired like homeodomain 2	gene	DOID:0051061	stroke		ISO	RGD:731390	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29531354
8777895	Pitx2	paired like homeodomain 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:731390	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
8777895	Pitx2	paired like homeodomain 2	gene	DOID:0060648	anterior segment dysgenesis		ISO	RGD:731390	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Iridogoniodysgenesis syndrome | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES	PMID:15591271|PMID:21052876|PMID:22224469|PMID:22569110|PMID:25741868|PMID:27013732|PMID:28492532|PMID:29664915|PMID:32499604|PMID:35882526|PMID:7581385|PMID:9437321
8777895	Pitx2	paired like homeodomain 2	gene	DOID:0060648	anterior segment dysgenesis		ISO	RGD:731390	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Iridogoniodysgenesis syndrome	PMID:15591271|PMID:20881294|PMID:21052876|PMID:22224469|PMID:22569110|PMID:25741868|PMID:27013732|PMID:28492532|PMID:28730073|PMID:29664915|PMID:32499604|PMID:35882526|PMID:8944018
8777895	Pitx2	paired like homeodomain 2	gene	DOID:0060673	Peters anomaly		ISO	RGD:731390	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis	PMID:15378534|PMID:25741868|PMID:26220699|PMID:28492532
8777895	Pitx2	paired like homeodomain 2	gene	DOID:0080606	anterior segment dysgenesis 1		ISO	RGD:11543558	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Anterior segment dysgenesis 1	PMID:25741868|PMID:28492532
8777895	Pitx2	paired like homeodomain 2	gene	DOID:0080609	anterior segment dysgenesis 4		ISO	RGD:731390	D	RGD:7240710	20180130	OMIM			
8777895	Pitx2	paired like homeodomain 2	gene	DOID:0080609	anterior segment dysgenesis 4		ISO	RGD:731390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anterior segment dysgenesis 4	PMID:10490637|PMID:11821690|PMID:12130547|PMID:12381896|PMID:15255117|PMID:15728254|PMID:15751970|PMID:16498627|PMID:16936096|PMID:17167399|PMID:17576681|PMID:18045789|PMID:19052653|PMID:19513095|PMID:20881294|PMID:22569110|PMID:25741868|PMID:28492532|PMID:28513611|PMID:28730073|PMID:29100920|PMID:29506241|PMID:30457409|PMID:30657791|PMID:31529555|PMID:33304895|PMID:35882526|PMID:8944018|PMID:9536098
8777895	Pitx2	paired like homeodomain 2	gene	DOID:0080610	anterior segment dysgenesis 5		ISO	RGD:731390	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5	PMID:15378534|PMID:25741868|PMID:26220699|PMID:28492532
8777895	Pitx2	paired like homeodomain 2	gene	DOID:0110120	Axenfeld-Rieger syndrome type 1		ISO	RGD:731390	D	RGD:7240710	20180130	OMIM			
8777895	Pitx2	paired like homeodomain 2	gene	DOID:0110120	Axenfeld-Rieger syndrome type 1		ISO	RGD:731390	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AXENFELD-RIEGER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1	PMID:10490637|PMID:12130547|PMID:15378534|PMID:15728254|PMID:16498627|PMID:18045789|PMID:20881294|PMID:22569110|PMID:25741868|PMID:26220699|PMID:28492532|PMID:28730073|PMID:29100920|PMID:29506241|PMID:31185933|PMID:33492563|PMID:35882526|PMID:8944018
8777895	Pitx2	paired like homeodomain 2	gene	DOID:0111548	ring dermoid of cornea		ISO	RGD:731390	D	RGD:7240710	20180130	OMIM			
8777895	Pitx2	paired like homeodomain 2	gene	DOID:0111548	ring dermoid of cornea		ISO	RGD:731390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ring dermoid of cornea	PMID:15378534|PMID:25741868|PMID:26220699|PMID:28492532
8777895	Pitx2	paired like homeodomain 2	gene	DOID:10283	prostate cancer		ISO	RGD:731390	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8777895	Pitx2	paired like homeodomain 2	gene	DOID:1059	intellectual disability		ISO	RGD:731390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Moderate intellectual disability	PMID:28492532
8777895	Pitx2	paired like homeodomain 2	gene	DOID:12143	neurogenic bladder		ISO	RGD:731390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurogenic bladder	PMID:28492532
8777895	Pitx2	paired like homeodomain 2	gene	DOID:1459	hypothyroidism		ISO	RGD:3331	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:ovary, granulosa cell	PMID:17982271|REF_RGD_ID:5131997
8777895	Pitx2	paired like homeodomain 2	gene	DOID:14686	Axenfeld-Rieger syndrome		ISO	RGD:731390	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Axenfeld-Rieger syndrome | ClinVar Annotator: match by term: Rieger anomaly	PMID:25741868
8777895	Pitx2	paired like homeodomain 2	gene	DOID:1681	heart septal defect		ISO	RGD:731391	D	RGD:9068941	20200609	RGD			PMID:23361844|REF_RGD_ID:12910561
8777895	Pitx2	paired like homeodomain 2	gene	DOID:1682	congenital heart disease		ISO	RGD:731390	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10499585
8777895	Pitx2	paired like homeodomain 2	gene	DOID:1686	glaucoma		ISO	RGD:731391	D	RGD:9068941	20220825	MouseDO			
8777895	Pitx2	paired like homeodomain 2	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:731390	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	
8777895	Pitx2	paired like homeodomain 2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:731390	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
8777895	Pitx2	paired like homeodomain 2	gene	DOID:540	strabismus		ISO	RGD:731390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:28492532
8777895	Pitx2	paired like homeodomain 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:28492532
8777895	Pitx2	paired like homeodomain 2	gene	DOID:630	genetic disease		ISO	RGD:731390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8777895	Pitx2	paired like homeodomain 2	gene	DOID:674	cleft palate		ISO	RGD:731391	D	RGD:9068941	20200609	RGD			PMID:12975342|REF_RGD_ID:12910559
8777895	Pitx2	paired like homeodomain 2	gene	DOID:83	cataract		ISO	RGD:731390	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:15378534|PMID:25741868|PMID:26220699|PMID:28166811|PMID:28492532
8777895	Pitx2	paired like homeodomain 2	gene	DOID:83	cataract		ISO	RGD:731390	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:15378534|PMID:25741868|PMID:26220699|PMID:28492532
8777895	Pitx2	paired like homeodomain 2	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:3331	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:20926632|REF_RGD_ID:5131995
8777895	Pitx2	paired like homeodomain 2	gene	DOID:9000045	De Hauwere syndrome		ISO	RGD:731390	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities	PMID:25741868
8777895	Pitx2	paired like homeodomain 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:731390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:15895993|PMID:25741868|PMID:35882526|PMID:8944018
8777895	Pitx2	paired like homeodomain 2	gene	DOID:9003591	Telecanthus		ISO	RGD:731390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868|PMID:33492563|PMID:35882526
8777895	Pitx2	paired like homeodomain 2	gene	DOID:9004030	Pituitary Stalk Interruption Syndrome		ISO	RGD:731390	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Pituitary Stalk Interruption Syndrome	PMID:25741868
8777895	Pitx2	paired like homeodomain 2	gene	DOID:9005162	Familial Atrial Fibrillation 1		ISO	RGD:731390	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation, familial, 1	PMID:25741868|PMID:28492532
8777895	Pitx2	paired like homeodomain 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	PMID:28492532
8777895	Pitx2	paired like homeodomain 2	gene	DOID:9005616	Micrognathism		ISO	RGD:731390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:28492532
8777895	Pitx2	paired like homeodomain 2	gene	DOID:9006065	Arthralgia		ISO	RGD:731390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	
8777895	Pitx2	paired like homeodomain 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532
8777895	Pitx2	paired like homeodomain 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:731390	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10499585|PMID:14623826
8777895	Pitx2	paired like homeodomain 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8777895	Pitx2	paired like homeodomain 2	gene	DOID:9009007	Tooth Abnormalities		ISO	RGD:731390	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10499585
8777895	Pitx2	paired like homeodomain 2	gene	DOID:930	orbital disease		ISO	RGD:731390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:28492532
8777895	Pitx2	paired like homeodomain 2	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:731390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:28492532
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0050562	West syndrome		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868|PMID:28492532
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1606524	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:c.457G>A(p.E53K),c.641G>A(p.R214H),c.1316delT(p.V439Vfs32)(human)	PMID:26371875|REF_RGD_ID:11098120
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:24033266|PMID:25741868|PMID:28492532
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0060475	myoclonic-atonic epilepsy		ISO	RGD:1606524	D	RGD:9068941	20200609	RGD		DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human)	PMID:23526554|REF_RGD_ID:11537471
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:1606524	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Autosomal dominant epilepsy	PMID:27541164|PMID:28492532|PMID:28663785|PMID:31112829|PMID:33063868|PMID:3402014|PMID:34020146
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0080449	developmental and epileptic encephalopathy 16		ISO	RGD:1606524	D	RGD:7240710	20180130	OMIM			
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0080449	developmental and epileptic encephalopathy 16		ISO	RGD:1606524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 16 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 16	PMID:23526554|PMID:24033266|PMID:24291220|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27281533|PMID:27652284|PMID:28492532|PMID:28663785|PMID:29176366|PMID:30335140|PMID:30579089|PMID:30680869|PMID:31112829|PMID:31780880|PMID:31922275|PMID:32004315|PMID:32581362|PMID:33229591|PMID:33619735|PMID:35350397|PMID:37996878
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1606524	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-linked infantile spasms	PMID:10574461|PMID:10741954|PMID:16199547|PMID:16855591|PMID:17576681|PMID:18414213|PMID:20727515|PMID:22277662|PMID:23184456|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:24387994|PMID:24848745|PMID:25169651|PMID:25401298|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26207815|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27259978|PMID:27281533|PMID:27502353|PMID:27541164|PMID:27669036|PMID:27784474|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29100083|PMID:29358611|PMID:29655203|PMID:29671961|PMID:30108545|PMID:30139988|PMID:30180405|PMID:30311386|PMID:30335140|PMID:30776697|PMID:31112829|PMID:31257402|PMID:31780880|PMID:32369273|PMID:32581362|PMID:9536098
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: OHTAHARA SYNDROME, X-LINKED | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar Annotator: match by term: X-linked infantile spasms	PMID:16199547|PMID:16855591|PMID:17576681|PMID:18414213|PMID:20727515|PMID:20797691|PMID:23184456|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:25169651|PMID:25326637|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27281533|PMID:27502353|PMID:27652284|PMID:27669036|PMID:28072960|PMID:28252636|PMID:28292732|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29100083|PMID:29176366|PMID:29358611|PMID:29655203|PMID:30108545|PMID:30139988|PMID:30180405|PMID:30335140|PMID:30579089|PMID:30680869|PMID:30866059|PMID:31112829|PMID:31257402|PMID:31780880|PMID:31922275|PMID:32369273|PMID:32581362|PMID:32860223|PMID:33229591|PMID:33281559|PMID:33333793|PMID:33726816|PMID:33986365|PMID:34852372|PMID:35350397|PMID:36413997|PMID:37996878|PMID:9536098
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1606524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome	PMID:16199547|PMID:16855591|PMID:17576681|PMID:20727515|PMID:20797691|PMID:23184456|PMID:23526554|PMID:24033266|PMID:24291220|PMID:24729539|PMID:24729547|PMID:25169651|PMID:25326637|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27281533|PMID:27502353|PMID:27652284|PMID:27669036|PMID:28072960|PMID:28252636|PMID:28292732|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29176366|PMID:29655203|PMID:30108545|PMID:30139988|PMID:30180405|PMID:30335140|PMID:30579089|PMID:30680869|PMID:30866059|PMID:31112829|PMID:31257402|PMID:31618474|PMID:31780880|PMID:31922275|PMID:32004315|PMID:32369273|PMID:32581362|PMID:32860223|PMID:33229591|PMID:33281559|PMID:33333793|PMID:33619735|PMID:33726816|PMID:33986365|PMID:34852372|PMID:35350397|PMID:36413997|PMID:37996878|PMID:9536098
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0090045	glucose transporter type 1 deficiency syndrome 2		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Childhood onset GLUT1 deficiency syndrome 2	PMID:25741868
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0110532	autosomal recessive nonsyndromic deafness 86		ISO	RGD:1606524	D	RGD:7240710	20180130	OMIM			
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0110532	autosomal recessive nonsyndromic deafness 86		ISO	RGD:1606524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DFNB86 | ClinVar Annotator: match by term: Deafness , autosomal recessive 86 | ClinVar Annotator: match by term: Deafness, autosomal recessive 86	PMID:23526554|PMID:24033266|PMID:24291220|PMID:24387994|PMID:25741868|PMID:26467025|PMID:27281533|PMID:28492532|PMID:31922275|PMID:32581362|PMID:33095980
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0110535	autosomal recessive nonsyndromic deafness 9		ISO	RGD:1606524	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder	
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0110586	autosomal dominant nonsyndromic deafness 65		ISO	RGD:1606524	D	RGD:7240710	20180130	OMIM			
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0110586	autosomal dominant nonsyndromic deafness 65		ISO	RGD:1606524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal dominant 65	PMID:23526554|PMID:24291220|PMID:25741868|PMID:27281533|PMID:28492532
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:16855591|PMID:23526554|PMID:24291220|PMID:27281533|PMID:28252636|PMID:28492532|PMID:31922275
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0111627	DOORS syndrome		ISO	RGD:1606524	D	RGD:7240710	20180130	OMIM			
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0111627	DOORS syndrome		ISO	RGD:1606524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME | ClinVar Annotator: match by term: DOOR SYNDROME | ClinVar Annotator: match by term: DOORS | ClinVar Annotator: match by term: DOORS syndrome	PMID:1029242|PMID:16199547|PMID:20727515|PMID:23526554|PMID:24033266|PMID:24291220|PMID:24729539|PMID:24729547|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27281533|PMID:27541164|PMID:27652284|PMID:27669036|PMID:28492532|PMID:28663785|PMID:30335140|PMID:30579089|PMID:31112829|PMID:31257402|PMID:31780880|PMID:31922275|PMID:32004315|PMID:32581362|PMID:33229591|PMID:33619735|PMID:33986365|PMID:35350397|PMID:37996878
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0111645	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome		ISO	RGD:1606524	D	RGD:7240710	20190821	OMIM			
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:0111645	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome		ISO	RGD:1606524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP | ClinVar Annotator: match by term: RE-PED-WC | ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	PMID:23526554|PMID:24033266|PMID:24291220|PMID:25741868|PMID:26467025|PMID:27281533|PMID:28492532|PMID:30108545|PMID:31112829|PMID:31257402|PMID:31618474|PMID:31922275|PMID:32581362|PMID:33229591|PMID:33333793
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1606524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:23526554|PMID:24291220|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:27281533|PMID:27652284|PMID:28492532|PMID:28663785|PMID:30335140|PMID:30579089|PMID:31112829|PMID:31780880|PMID:32004315|PMID:33619735|PMID:35350397|PMID:37996878
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:1059	intellectual disability		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:23526554|PMID:23806086|PMID:24088043|PMID:24291220|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:27281533|PMID:27652284|PMID:27669036|PMID:28492532|PMID:28663785|PMID:30311386|PMID:30335140|PMID:30579089|PMID:31257402|PMID:31780880|PMID:35350397|PMID:37996878
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:1059	intellectual disability		ISO	RGD:1606524	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:23526554|PMID:24291220|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:27281533|PMID:27652284|PMID:27669036|PMID:28492532|PMID:28663785|PMID:30311386|PMID:30335140|PMID:30579089|PMID:31112829|PMID:31257402|PMID:31780880|PMID:32004315|PMID:33619735|PMID:35350397|PMID:37996878
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:1059	intellectual disability		ISO	RGD:1606524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:23526554|PMID:24291220|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:27281533|PMID:27652284|PMID:28492532|PMID:28663785|PMID:30311386|PMID:30335140|PMID:30579089|PMID:31112829|PMID:31780880|PMID:32004315|PMID:33619735|PMID:35350397|PMID:37996878
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:1115	sarcoma		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:24033266|PMID:28492532
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:12849	autistic disorder		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:24033266|PMID:25741868|PMID:28492532
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:1324	lung cancer		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:16199547|PMID:23526554|PMID:24291220|PMID:25741868|PMID:28492532
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:1826	epilepsy		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:26467025|PMID:27281533|PMID:27652284|PMID:27669036|PMID:28292732|PMID:28492532|PMID:28663785|PMID:29358611|PMID:30108545|PMID:30335140|PMID:30579089|PMID:30776697|PMID:31112829|PMID:31257402|PMID:31618474|PMID:31780880|PMID:31922275|PMID:32581362|PMID:33063868|PMID:35350397|PMID:37996878
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:1826	epilepsy		ISO	RGD:1606524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:23526554|PMID:24033266|PMID:24291220|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:27281533|PMID:27652284|PMID:28292732|PMID:28492532|PMID:28663785|PMID:30108545|PMID:30335140|PMID:30579089|PMID:30776697|PMID:31112829|PMID:31257402|PMID:31618474|PMID:31780880|PMID:31922275|PMID:32004315|PMID:32581362|PMID:33063868|PMID:33333793|PMID:33619735|PMID:35350397|PMID:37996878
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:2030	anxiety disorder		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:24033266|PMID:25741868|PMID:28492532
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:2355	anemia		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:24033266|PMID:25741868|PMID:28492532
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:1606524	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile	PMID:22277662|PMID:24033266|PMID:24291220|PMID:24848745|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:29358611|PMID:30311386
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:1606524	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile	PMID:18414213|PMID:22277662|PMID:24033266|PMID:24291220|PMID:24848745|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28726039|PMID:29358611|PMID:30311386|PMID:31216405|PMID:32004315|PMID:33619735
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:1606524	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile	PMID:18414213|PMID:22277662|PMID:23526554|PMID:24033266|PMID:24291220|PMID:24848745|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28726039|PMID:28951997|PMID:29358611|PMID:30180405|PMID:30311386|PMID:30776697|PMID:31112829|PMID:31216405|PMID:32004315|PMID:33619735
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:1606524	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile	PMID:18414213|PMID:23526554|PMID:24033266|PMID:24291220|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:27281533|PMID:28292732|PMID:28428906|PMID:28492532|PMID:28726039|PMID:29358611|PMID:30180405|PMID:30311386|PMID:30776697|PMID:31112829|PMID:31216405|PMID:32004315|PMID:33619735
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe	PMID:18414213|PMID:23526554|PMID:24033266|PMID:24291220|PMID:25741868|PMID:26467025|PMID:27281533|PMID:28492532|PMID:29358611|PMID:31922275|PMID:32581362
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:1606524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile	PMID:23526554|PMID:24033266|PMID:24291220|PMID:25741868|PMID:26467025|PMID:27281533|PMID:28492532|PMID:31922275|PMID:32581362
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:4362	cervical cancer		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:480	movement disease		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder | ClinVar Annotator: match by term: Movement disorders	PMID:25741868|PMID:28492532|PMID:31922275|PMID:32581362
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:543	dystonia		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:16855591|PMID:23526554|PMID:24291220|PMID:27281533|PMID:28252636|PMID:28492532|PMID:31922275
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:28492532
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:28492532
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:630	genetic disease		ISO	RGD:1606524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16855591|PMID:17576681|PMID:20727515|PMID:23526554|PMID:24033266|PMID:24291220|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:26467025|PMID:26668325|PMID:27281533|PMID:27652284|PMID:28252636|PMID:28492532|PMID:28663785|PMID:30139988|PMID:30335140|PMID:30579089|PMID:31112829|PMID:31780880|PMID:31922275|PMID:32004315|PMID:33619735|PMID:35350397|PMID:36413997|PMID:37996878|PMID:9536098
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:6364	migraine		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:24033266|PMID:25741868|PMID:28492532
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PME	PMID:25401298|PMID:25741868|PMID:27281533|PMID:28492532|PMID:30335140
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:8927	learning disability		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868|PMID:28492532|PMID:31922275|PMID:32581362
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:9000307	Presbycusis		ISO	RGD:1606524	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:c.533C>T (p.S178L)(human)	PMID:24729539|REF_RGD_ID:11537394
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:9000495	Tremor		ISO	RGD:1606524	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:24033266|PMID:25741868|PMID:28492532
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:9001425	Triphalangeal Thumb		ISO	RGD:1606524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Triphalangeal thumb	PMID:23526554|PMID:24291220|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:27281533|PMID:27652284|PMID:28492532|PMID:28663785|PMID:30335140|PMID:30579089|PMID:31112829|PMID:31780880|PMID:32004315|PMID:33619735|PMID:35350397|PMID:37996878
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:9001722	Dysarthria		ISO	RGD:1606524	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:24033266|PMID:25741868|PMID:28492532
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:9004538	Hearing Loss		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: hearing loss	PMID:24033266|PMID:24291220|PMID:25741868|PMID:28492532|PMID:30311386
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:24291220|PMID:25741868|PMID:27669036|PMID:28492532|PMID:29176366|PMID:31112829|PMID:31257402|PMID:33333793
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:9007063	Myoclonic Epilepsy, Familial Infantile		ISO	RGD:1606524	D	RGD:7240710	20180130	OMIM			
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:9007063	Myoclonic Epilepsy, Familial Infantile		ISO	RGD:1606524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FIME | ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy | ClinVar Annotator: match by term: MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL | ClinVar Annotator: match by term: Myoclonic epilepsy, infantile, familial	PMID:20727515|PMID:23526554|PMID:24033266|PMID:24291220|PMID:25741868|PMID:26207815|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27281533|PMID:27784474|PMID:28492532|PMID:30180405|PMID:30335140|PMID:31112829|PMID:31922275|PMID:32581362|PMID:33229591
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:9007479	Habitual Abortions		ISO	RGD:1606524	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Recurrent spontaneous abortion	PMID:24291220|PMID:25169651|PMID:25719194|PMID:25741868|PMID:27281533|PMID:28492532|PMID:30335140|PMID:30579089|PMID:31112829|PMID:31780880|PMID:32004315|PMID:37996878
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:9007722	Myoclonus		ISO	RGD:1606524	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Myoclonic jerks	PMID:24033266|PMID:25741868|PMID:28492532
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:31922275|PMID:32581362
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:9008675	Dyskinesias		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:16855591|PMID:23526554|PMID:24291220|PMID:27281533|PMID:28252636|PMID:28492532|PMID:31922275
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:9008681	Deafness		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:25741868
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8777913	Tbc1d24	TBC1 domain family member 24	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1606524	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:24033266|PMID:25741868|PMID:28492532
8777928	Spag6	sperm associated antigen 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8777928	Spag6	sperm associated antigen 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8777928	Spag6	sperm associated antigen 6	gene	DOID:1909	melanoma		ISO	RGD:1313749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8777928	Spag6	sperm associated antigen 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777928	Spag6	sperm associated antigen 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8777949	Ppp1r2	protein phosphatase 1 regulatory inhibitor subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1343622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8777949	Ppp1r2	protein phosphatase 1 regulatory inhibitor subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1343622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8777949	Ppp1r2	protein phosphatase 1 regulatory inhibitor subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1343622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8777949	Ppp1r2	protein phosphatase 1 regulatory inhibitor subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777949	Ppp1r2	protein phosphatase 1 regulatory inhibitor subunit 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8777949	Ppp1r2	protein phosphatase 1 regulatory inhibitor subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8777958	LOC102025174	chromosome unknown open reading frame, human C16orf95	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:5132711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8777958	LOC102025174	chromosome unknown open reading frame, human C16orf95	gene	DOID:10534	stomach cancer		ISO	RGD:5132711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8777958	LOC102025174	chromosome unknown open reading frame, human C16orf95	gene	DOID:3275	thymoma		ISO	RGD:5132711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8777958	LOC102025174	chromosome unknown open reading frame, human C16orf95	gene	DOID:5041	esophageal cancer		ISO	RGD:5132711	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:0050765	neuroacanthocytosis		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ACANTHOCYTOSIS WITH NEUROLOGIC DISORDER | ClinVar Annotator: match by term: Acanthocytosis with neurologic disorder	PMID:12404112|PMID:25741868|PMID:26467025|PMID:26870756|PMID:28492532|PMID:33305042
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:0050766	choreaacanthocytosis		ISO	RGD:1312307	D	RGD:7240710	20180725	OMIM			
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:0050766	choreaacanthocytosis		ISO	RGD:1312307	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHOREOACANTHOCYTOSIS | ClinVar Annotator: match by term: Choreaacanthocytosis | ClinVar Annotator: match by term: Choreoacanthocytosis | ClinVar Annotator: match by term: VPS13A-related condition | ClinVar Annotator: match by term: chorea-acanthocytosis	PMID:11381253|PMID:12404112|PMID:15293285|PMID:15824261|PMID:15918062|PMID:16199547|PMID:17516458|PMID:17673232|PMID:17998451|PMID:20301561|PMID:21145924|PMID:21598378|PMID:21951684|PMID:22038564|PMID:22777538|PMID:23726790|PMID:23746940|PMID:24033266|PMID:24974674|PMID:25733999|PMID:25741868|PMID:26467025|PMID:26768680|PMID:26870756|PMID:27400454|PMID:28003435|PMID:28446873|PMID:28492532|PMID:29913018|PMID:31192303|PMID:31704285|PMID:31969655|PMID:32088470|PMID:32131761|PMID:32606538|PMID:3322006|PMID:33305042|PMID:33652783|PMID:33679298|PMID:35707035|PMID:35926480|PMID:38519717|PMID:39324427|PMID:40627817
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:0080855	Parkinsonism		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder | ClinVar Annotator: match by term: Parkinsonism	PMID:25741868
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:0111428	essential tremor 1		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:25741868
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:1037	lymphoid leukemia		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoid leukemia	PMID:25741868
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:10534	stomach cancer		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:1115	sarcoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:12859	choreatic disease		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:1324	lung cancer		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:1826	epilepsy		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:1909	melanoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:2394	ovarian cancer		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:3070	high grade glioma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:3275	thymoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:423	myopathy		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:4362	cervical cancer		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:480	movement disease		ISO	RGD:1312307	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:5041	esophageal cancer		ISO	RGD:1312307	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:543	dystonia		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:630	genetic disease		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:28492532
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:8725	vascular dementia		ISO	RGD:1312307	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:35307828
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9000495	Tremor		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9001480	Muscle Rigidity		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cogwheel rigidity	PMID:25741868
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive decline | ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9003132	Sialorrhea		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1312307	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:12404112|PMID:16199547|PMID:21598378|PMID:25741868|PMID:28492532|PMID:31543803
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9009133	acanthocytosis		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthocytosis	PMID:25741868
8777993	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8778085	Sec14l5	SEC14 like lipid binding 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8778085	Sec14l5	SEC14 like lipid binding 5	gene	DOID:1324	lung cancer		ISO	RGD:1605420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8778085	Sec14l5	SEC14 like lipid binding 5	gene	DOID:4362	cervical cancer		ISO	RGD:1605420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8778085	Sec14l5	SEC14 like lipid binding 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1605420	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8778085	Sec14l5	SEC14 like lipid binding 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778085	Sec14l5	SEC14 like lipid binding 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8778085	Sec14l5	SEC14 like lipid binding 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1605420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8778106	Celsr3	cadherin EGF LAG seven-pass G-type receptor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8778106	Celsr3	cadherin EGF LAG seven-pass G-type receptor 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1342685	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8778106	Celsr3	cadherin EGF LAG seven-pass G-type receptor 3	gene	DOID:0060058	lymphoma		ISO	RGD:1342685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8778106	Celsr3	cadherin EGF LAG seven-pass G-type receptor 3	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1342685	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex	PMID:25741868
8778106	Celsr3	cadherin EGF LAG seven-pass G-type receptor 3	gene	DOID:0080206	congenital anomalies of the kidney and urinary tract 1		ISO	RGD:1342685	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1	
8778106	Celsr3	cadherin EGF LAG seven-pass G-type receptor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1342685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8778106	Celsr3	cadherin EGF LAG seven-pass G-type receptor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8778106	Celsr3	cadherin EGF LAG seven-pass G-type receptor 3	gene	DOID:11119	Gilles de la Tourette syndrome		ISO	RGD:1342685	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Tourette syndrome	PMID:25590979|PMID:25741868|PMID:30257206
8778106	Celsr3	cadherin EGF LAG seven-pass G-type receptor 3	gene	DOID:1115	sarcoma		ISO	RGD:1342685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8778106	Celsr3	cadherin EGF LAG seven-pass G-type receptor 3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1342685	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868
8778106	Celsr3	cadherin EGF LAG seven-pass G-type receptor 3	gene	DOID:1909	melanoma		ISO	RGD:1342685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8778106	Celsr3	cadherin EGF LAG seven-pass G-type receptor 3	gene	DOID:3275	thymoma		ISO	RGD:1342685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8778106	Celsr3	cadherin EGF LAG seven-pass G-type receptor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1342685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8778106	Celsr3	cadherin EGF LAG seven-pass G-type receptor 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1342685	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8778106	Celsr3	cadherin EGF LAG seven-pass G-type receptor 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8778106	Celsr3	cadherin EGF LAG seven-pass G-type receptor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778106	Celsr3	cadherin EGF LAG seven-pass G-type receptor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342685	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8778106	Celsr3	cadherin EGF LAG seven-pass G-type receptor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
8778106	Celsr3	cadherin EGF LAG seven-pass G-type receptor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8778166	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8778166	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:10534	stomach cancer		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8778166	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8778166	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:11830	myopia		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
8778166	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:1596	depressive disorder		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
8778166	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:1826	epilepsy		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8778166	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:2030	anxiety disorder		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
8778166	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8778166	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778166	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8778166	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8778166	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
8778166	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
8778166	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8778166	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:9008023	Memory Disorders		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
8778166	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8778166	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:9834	hyperopia		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
8778180	Rdh13	retinol dehydrogenase 13	gene	DOID:0060058	lymphoma		ISO	RGD:1312701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8778180	Rdh13	retinol dehydrogenase 13	gene	DOID:10534	stomach cancer		ISO	RGD:1312701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8778180	Rdh13	retinol dehydrogenase 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8778180	Rdh13	retinol dehydrogenase 13	gene	DOID:1115	sarcoma		ISO	RGD:1312701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8778180	Rdh13	retinol dehydrogenase 13	gene	DOID:1324	lung cancer		ISO	RGD:1312701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8778180	Rdh13	retinol dehydrogenase 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8778180	Rdh13	retinol dehydrogenase 13	gene	DOID:3275	thymoma		ISO	RGD:1312701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8778180	Rdh13	retinol dehydrogenase 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778180	Rdh13	retinol dehydrogenase 13	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1312701	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27865848
8778180	Rdh13	retinol dehydrogenase 13	gene	DOID:9003566	Mesothelioma		ISO	RGD:1312701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8778180	Rdh13	retinol dehydrogenase 13	gene	DOID:9005749	Necrosis		ISO	RGD:1312701	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27865848
8778180	Rdh13	retinol dehydrogenase 13	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1312701	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27865848
8778180	Rdh13	retinol dehydrogenase 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8778194	Rgs5	regulator of G protein signaling 5	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:730866	D	RGD:9068941	20220513	RGD		DNA:SNP:3'utr: (rs15049) C>A (human)	PMID:27354594|REF_RGD_ID:152177496
8778194	Rgs5	regulator of G protein signaling 5	gene	DOID:10763	hypertension		ISO	RGD:730866	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:1798635
8778194	Rgs5	regulator of G protein signaling 5	gene	DOID:10763	hypertension	treatment	ISO	RGD:3568	D	RGD:9068941	20200609	RGD			PMID:21825230|REF_RGD_ID:7207400
8778194	Rgs5	regulator of G protein signaling 5	gene	DOID:10825	essential hypertension		ISO	RGD:730866	D	RGD:7240710	20180130	OMIM			
8778194	Rgs5	regulator of G protein signaling 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778194	Rgs5	regulator of G protein signaling 5	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:730866	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8778194	Rgs5	regulator of G protein signaling 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:0050700	cardiomyopathy		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:19825159|PMID:1982519|PMID:22547813|PMID:22992668|PMID:23663834|PMID:24433488|PMID:25741868|PMID:28259615|PMID:28492532|PMID:30236257|PMID:33564012|PMID:34546289|PMID:37392848
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:0060843	hereditary neuropathy with liability to pressure palsies		ISO	RGD:736857	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Neuropathy with Liability to Pressure Palsies	PMID:25741868|PMID:26467025|PMID:28492532
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:0081337	congenital myopathy		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:25741868|PMID:26247046|PMID:28012042|PMID:30499100|PMID:34777470
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:0081350	congenital myopathy 18		ISO	RGD:736857	D	RGD:7240710	20260708	OMIM			
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:0081350	congenital myopathy 18		ISO	RGD:736857	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital myopathy 18 | ClinVar Annotator: match by term: DHPR CONGENITAL MYOPATHY | ClinVar Annotator: match by term: Myopathy, congenital, due to dihydropyridine receptor defect	PMID:10590402|PMID:11034874|PMID:11260227|PMID:11808349|PMID:11940049|PMID:12411788|PMID:16199547|PMID:17576681|PMID:19825159|PMID:1982519|PMID:20431982|PMID:22547813|PMID:22992668|PMID:23019082|PMID:23663834|PMID:24033266|PMID:24195946|PMID:24433488|PMID:25430699|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26247046|PMID:26467025|PMID:28012042|PMID:28259615|PMID:28325641|PMID:28492532|PMID:29792937|PMID:30236257|PMID:30325262|PMID:30499100|PMID:32153140|PMID:33060286|PMID:33088529|PMID:33564012|PMID:33667896|PMID:34440373|PMID:34546289|PMID:34777470|PMID:37392848|PMID:37432431|PMID:38609989|PMID:7847370|PMID:7987325|PMID:9199552|PMID:9536098
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:28492532
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:1059	intellectual disability		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26467025|PMID:28492532
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:11162	respiratory failure		ISO	RGD:736857	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19822448
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:12849	autistic disorder		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:1324	lung cancer		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:26467025|PMID:28492532
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:14452	hypokalemic periodic paralysis		ISO	RGD:736857	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HypoPP | ClinVar Annotator: match by term: Hypokalemic periodic paralysis	PMID:10590402|PMID:11034874|PMID:11260227|PMID:11573677|PMID:11808349|PMID:11940049|PMID:12411788|PMID:15201141|PMID:16163667|PMID:17576681|PMID:18325191|PMID:19825159|PMID:20213496|PMID:20431982|PMID:20861472|PMID:22992668|PMID:23019082|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24784157|PMID:25132214|PMID:25430699|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26188342|PMID:26247046|PMID:26332594|PMID:26467025|PMID:27147545|PMID:28011884|PMID:28012042|PMID:28325641|PMID:28492532|PMID:28686619|PMID:29193480|PMID:29212769|PMID:29792937|PMID:30094188|PMID:30325262|PMID:30499100|PMID:30864471|PMID:31851124|PMID:33088529|PMID:33667896|PMID:34440373|PMID:34777470|PMID:37234784|PMID:37432431|PMID:38609989|PMID:39000354|PMID:7847370|PMID:7987325|PMID:9199552|PMID:9536098
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:1826	epilepsy		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26467025|PMID:28492532
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:2340	craniosynostosis		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:26467025|PMID:28492532
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:2394	ovarian cancer		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:2841	asthma		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:2843	long QT syndrome		ISO	RGD:736857	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:25741868|PMID:28492532
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:423	myopathy		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:19825159|PMID:1982519|PMID:22547813|PMID:22992668|PMID:23663834|PMID:24433488|PMID:25741868|PMID:28259615|PMID:28492532|PMID:30236257|PMID:33564012|PMID:34546289|PMID:37392848
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:26467025|PMID:28492532
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:5041	esophageal cancer		ISO	RGD:736857	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:26467025|PMID:28492532
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:630	genetic disease		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11573677|PMID:19825159|PMID:1982519|PMID:20861472|PMID:22547813|PMID:22992668|PMID:23663834|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:24784157|PMID:25132214|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27147545|PMID:28011884|PMID:28259615|PMID:28492532|PMID:29193480|PMID:29212769|PMID:30094188|PMID:30236257|PMID:33564012|PMID:34546289|PMID:37234784|PMID:37392848|PMID:39000354
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:83	cataract		ISO	RGD:736857	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Congenital nuclear cataract	PMID:25741868
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:8545	malignant hyperthermia		ISO	RGD:736857	D	RGD:7240710	20260708	OMIM			
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:8545	malignant hyperthermia		ISO	RGD:736857	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:11260227|PMID:12411788|PMID:15201141|PMID:16163667|PMID:17576681|PMID:19825159|PMID:1982519|PMID:20861472|PMID:22547813|PMID:22992668|PMID:23662824|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24784157|PMID:25132214|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27147545|PMID:28011884|PMID:28166811|PMID:28326467|PMID:28492532|PMID:29193480|PMID:29212769|PMID:9199552|PMID:9536098
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:8545	malignant hyperthermia		ISO	RGD:736857	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:11260227|PMID:12411788|PMID:15201141|PMID:16163667|PMID:17576681|PMID:19825159|PMID:20861472|PMID:22547813|PMID:22992668|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24784157|PMID:25132214|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27147545|PMID:28011884|PMID:28166811|PMID:28326467|PMID:28492532|PMID:29193480|PMID:29212769|PMID:9199552|PMID:9536098
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:8545	malignant hyperthermia		ISO	RGD:736857	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:10523403|PMID:10590402|PMID:10639629|PMID:11034874|PMID:11260227|PMID:11555352|PMID:11591859|PMID:11808349|PMID:11940049|PMID:12411788|PMID:15201141|PMID:15716625|PMID:15726306|PMID:16163667|PMID:16199547|PMID:17418573|PMID:17576681|PMID:18162704|PMID:18229654|PMID:18835861|PMID:19118277|PMID:19225109|PMID:19822448|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20301512|PMID:20431982|PMID:20861472|PMID:21841462|PMID:22547813|PMID:22901280|PMID:22992668|PMID:23663834|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:24784157|PMID:25132214|PMID:25213595|PMID:25430699|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26247046|PMID:26252573|PMID:26332594|PMID:26467025|PMID:27147545|PMID:28008999|PMID:28011884|PMID:28012042|PMID:28326467|PMID:28492532|PMID:28857175|PMID:29193480|PMID:29212769|PMID:29572832|PMID:30090141|PMID:30236257|PMID:30325262|PMID:3037387|PMID:31068157|PMID:31227654|PMID:33042247|PMID:33060286|PMID:33184660|PMID:34008892|PMID:34608571|PMID:34804722|PMID:35509735|PMID:7847370|PMID:7987325|PMID:8004673|PMID:9066893|PMID:9132138|PMID:9199552|PMID:9536098
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:8545	malignant hyperthermia		ISO	RGD:736857	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:10523403|PMID:10590402|PMID:10639629|PMID:11034874|PMID:11260227|PMID:11555352|PMID:11591859|PMID:11808349|PMID:11940049|PMID:12411788|PMID:15201141|PMID:15716625|PMID:15726306|PMID:16163667|PMID:16199547|PMID:17418573|PMID:17576681|PMID:18162704|PMID:18229654|PMID:18325191|PMID:18835861|PMID:19118277|PMID:19225109|PMID:19822448|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20301512|PMID:20431982|PMID:20861472|PMID:21841462|PMID:22547813|PMID:22901280|PMID:22992668|PMID:23663834|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:24784157|PMID:25132214|PMID:25213595|PMID:25430699|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26247046|PMID:26252573|PMID:26332594|PMID:26467025|PMID:27147545|PMID:28008999|PMID:28011884|PMID:28012042|PMID:28259615|PMID:28326467|PMID:28492532|PMID:28857175|PMID:29193480|PMID:29212769|PMID:29572832|PMID:30090141|PMID:30236257|PMID:30325262|PMID:3037387|PMID:31068157|PMID:31227654|PMID:33042247|PMID:33060286|PMID:33184660|PMID:33564012|PMID:34008892|PMID:34608571|PMID:34804722|PMID:35509735|PMID:7847370|PMID:7987325|PMID:8004673|PMID:9066893|PMID:9132138|PMID:9199552|PMID:9536098
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:8545	malignant hyperthermia		ISO	RGD:736857	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:10523403|PMID:10590402|PMID:10639629|PMID:11034874|PMID:11260227|PMID:11555352|PMID:11591859|PMID:11808349|PMID:11940049|PMID:12411788|PMID:15201141|PMID:15716625|PMID:15726306|PMID:16163667|PMID:16199547|PMID:17418573|PMID:17576681|PMID:18162704|PMID:18229654|PMID:18325191|PMID:18835861|PMID:19118277|PMID:19225109|PMID:19822448|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20301512|PMID:20431982|PMID:20861472|PMID:21841462|PMID:22547813|PMID:22901280|PMID:22992668|PMID:23019082|PMID:23663834|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:24784157|PMID:25132214|PMID:25213595|PMID:25430699|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26188342|PMID:26247046|PMID:26252573|PMID:26332594|PMID:26467025|PMID:26994242|PMID:27147545|PMID:28008999|PMID:28011884|PMID:28012042|PMID:28259615|PMID:28325641|PMID:28326467|PMID:28492532|PMID:28686619|PMID:28779239|PMID:28857175|PMID:29193480|PMID:29212769|PMID:29572832|PMID:30090141|PMID:30236257|PMID:30325262|PMID:3037387|PMID:31068157|PMID:31227654|PMID:31851124|PMID:33042247|PMID:33060286|PMID:33184660|PMID:33564012|PMID:34008892|PMID:34608571|PMID:34777470|PMID:34804722|PMID:35509735|PMID:7847370|PMID:7987325|PMID:8004673|PMID:9066893|PMID:9132138|PMID:9199552|PMID:9536098
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:8545	malignant hyperthermia		ISO	RGD:736857	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:10074484|PMID:10523403|PMID:10590402|PMID:10639629|PMID:11034874|PMID:11260227|PMID:11328898|PMID:11353725|PMID:11555352|PMID:11591859|PMID:11808349|PMID:11940049|PMID:12411788|PMID:15098604|PMID:15201141|PMID:15711422|PMID:15716625|PMID:15726306|PMID:16163667|PMID:16199547|PMID:17418573|PMID:17576681|PMID:17587224|PMID:18162704|PMID:18229654|PMID:18325191|PMID:18835861|PMID:19118277|PMID:19225109|PMID:19822448|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20301512|PMID:20431982|PMID:20861472|PMID:21841462|PMID:22547813|PMID:22901280|PMID:22992668|PMID:23019082|PMID:23187123|PMID:23663834|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:24784157|PMID:25132214|PMID:25213595|PMID:25430699|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26188342|PMID:26247046|PMID:26252573|PMID:26332594|PMID:26467025|PMID:26994242|PMID:27147545|PMID:28008999|PMID:28011884|PMID:28012042|PMID:28259615|PMID:28325641|PMID:28326467|PMID:28492532|PMID:28686619|PMID:28779239|PMID:28857175|PMID:28972032|PMID:29193480|PMID:29212769|PMID:29572832|PMID:29792937|PMID:30090141|PMID:30236257|PMID:30325262|PMID:3037387|PMID:31068157|PMID:31227654|PMID:31380823|PMID:31447099|PMID:31567646|PMID:31851124|PMID:33042247|PMID:33060286|PMID:33184660|PMID:33564012|PMID:33667896|PMID:34008892|PMID:34440373|PMID:34608571|PMID:34777470|PMID:34804722|PMID:35509735|PMID:7650604|PMID:7847370|PMID:7897626|PMID:7987325|PMID:8004673|PMID:8605978|PMID:9066893|PMID:9132138|PMID:9199552|PMID:9512357|PMID:9536098|PMID:9852570
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:8545	malignant hyperthermia		ISO	RGD:736857	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:10074484|PMID:10523403|PMID:10590402|PMID:10639629|PMID:11034874|PMID:11260227|PMID:11328898|PMID:11353725|PMID:11555352|PMID:11591859|PMID:11808349|PMID:11940049|PMID:12411788|PMID:15098604|PMID:15201141|PMID:15711422|PMID:15716625|PMID:15726306|PMID:16163667|PMID:16199547|PMID:17418573|PMID:17576681|PMID:17587224|PMID:18162704|PMID:18229654|PMID:18325191|PMID:18835861|PMID:19118277|PMID:19225109|PMID:19822448|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20301512|PMID:20431982|PMID:20861472|PMID:21841462|PMID:22547813|PMID:22901280|PMID:22992668|PMID:23019082|PMID:23187123|PMID:23663834|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:24784157|PMID:25132214|PMID:25213595|PMID:25430699|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26188342|PMID:26247046|PMID:26252573|PMID:26332594|PMID:26467025|PMID:26994242|PMID:27147545|PMID:28008999|PMID:28011884|PMID:28012042|PMID:28259615|PMID:28325641|PMID:28326467|PMID:28492532|PMID:28686619|PMID:28779239|PMID:28857175|PMID:28972032|PMID:29193480|PMID:29212769|PMID:29572832|PMID:29792937|PMID:30090141|PMID:30236257|PMID:30325262|PMID:3037387|PMID:31068157|PMID:31127727|PMID:31227654|PMID:31380823|PMID:31447099|PMID:31567646|PMID:31851124|PMID:33042247|PMID:33060286|PMID:33184660|PMID:33564012|PMID:33667896|PMID:34008892|PMID:34440373|PMID:34608571|PMID:34777470|PMID:34804722|PMID:35509735|PMID:7650604|PMID:7847370|PMID:7897626|PMID:7987325|PMID:8004673|PMID:8605978|PMID:9066893|PMID:9132138|PMID:9199552|PMID:9512357|PMID:9536098|PMID:9852570
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:8545	malignant hyperthermia		ISO	RGD:736857	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:10074484|PMID:10523403|PMID:10590402|PMID:10639629|PMID:11034874|PMID:11260227|PMID:11328898|PMID:11353725|PMID:11555352|PMID:11591859|PMID:11808349|PMID:11940049|PMID:12411788|PMID:15098604|PMID:15201141|PMID:15711422|PMID:15716625|PMID:15726306|PMID:16163667|PMID:16199547|PMID:17418573|PMID:17576681|PMID:17587224|PMID:1800559|PMID:18162704|PMID:18229654|PMID:18325191|PMID:18835861|PMID:19118277|PMID:19225109|PMID:19822448|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20301512|PMID:20431982|PMID:20861472|PMID:21841462|PMID:22547813|PMID:22901280|PMID:22992668|PMID:23019082|PMID:23187123|PMID:23663834|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:24784157|PMID:25132214|PMID:25213595|PMID:25430699|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26188342|PMID:26247046|PMID:26252573|PMID:26332594|PMID:26467025|PMID:26994242|PMID:27147545|PMID:28008999|PMID:28011884|PMID:28012042|PMID:28259615|PMID:28325641|PMID:28326467|PMID:28492532|PMID:28686619|PMID:28779239|PMID:28857175|PMID:28952030|PMID:28972032|PMID:29193480|PMID:29212769|PMID:29572832|PMID:29792937|PMID:30090141|PMID:30094188|PMID:30236257|PMID:30325262|PMID:3037387|PMID:31068157|PMID:31127727|PMID:31227654|PMID:31380823|PMID:31447099|PMID:31567646|PMID:31851124|PMID:33042247|PMID:33060286|PMID:33184660|PMID:33564012|PMID:33667896|PMID:34008892|PMID:34440373|PMID:34608571|PMID:34777470|PMID:34804722|PMID:35509735|PMID:7650604|PMID:7847370|PMID:7897626|PMID:7987325|PMID:8004673|PMID:8024130|PMID:8605978|PMID:9066893|PMID:9132138|PMID:9199552|PMID:9512357|PMID:9536098|PMID:9852570
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:8545	malignant hyperthermia		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 | ClinVar Annotator: match by term: malignant hyperthermia susceptibility | ClinVar Annotator: match by term: malignant hyperthermia, susceptibility to, 5	PMID:10074484|PMID:10590402|PMID:11034874|PMID:11260227|PMID:11328898|PMID:11353725|PMID:11573677|PMID:11808349|PMID:11940049|PMID:12411788|PMID:15098604|PMID:15201141|PMID:15711422|PMID:15726306|PMID:15849247|PMID:16163667|PMID:16199547|PMID:17576681|PMID:17587224|PMID:1800559|PMID:18162704|PMID:18325191|PMID:19118277|PMID:19225109|PMID:19822448|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20431982|PMID:20861472|PMID:22547813|PMID:22992668|PMID:23019082|PMID:23187123|PMID:23663834|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:24784157|PMID:25132214|PMID:25430699|PMID:25637381|PMID:25658027|PMID:25717360|PMID:25735680|PMID:25741868|PMID:26188342|PMID:26247046|PMID:26332594|PMID:26467025|PMID:27147545|PMID:28008999|PMID:28011884|PMID:28012042|PMID:28259615|PMID:28325641|PMID:28326467|PMID:28492532|PMID:28686619|PMID:28779239|PMID:28952030|PMID:28972032|PMID:29193480|PMID:29212769|PMID:29792937|PMID:30094188|PMID:30236257|PMID:30325262|PMID:30499100|PMID:30864471|PMID:31068157|PMID:31380823|PMID:31447099|PMID:31567646|PMID:31851124|PMID:32153140|PMID:33060286|PMID:33088529|PMID:33564012|PMID:33667896|PMID:34440373|PMID:34546289|PMID:34608571|PMID:34777470|PMID:35849058|PMID:36964972|PMID:37234784|PMID:37392848|PMID:37432431|PMID:37510298|PMID:37656291|PMID:38609989|PMID:39000354|PMID:7650604|PMID:7847370|PMID:7897626|PMID:7987325|PMID:8024130|PMID:8605978|PMID:9066893|PMID:9199552|PMID:9512357|PMID:9536098|PMID:9852570
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:8545	malignant hyperthermia		ISO	RGD:736857	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 | ClinVar Annotator: match by term: malignant hyperthermia susceptibility | ClinVar Annotator: match by term: malignant hyperthermia, susceptibility to, 5	PMID:10590402|PMID:11034874|PMID:11260227|PMID:11573677|PMID:11808349|PMID:11940049|PMID:12411788|PMID:15201141|PMID:15726306|PMID:15849247|PMID:16163667|PMID:16199547|PMID:17576681|PMID:1800559|PMID:18325191|PMID:19822448|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20431982|PMID:20861472|PMID:22547813|PMID:22992668|PMID:23019082|PMID:23663834|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:24784157|PMID:25132214|PMID:25430699|PMID:25637381|PMID:25658027|PMID:25717360|PMID:25735680|PMID:25741868|PMID:26188342|PMID:26247046|PMID:26332594|PMID:26467025|PMID:27147545|PMID:28008999|PMID:28011884|PMID:28012042|PMID:28259615|PMID:28325641|PMID:28326467|PMID:28492532|PMID:28686619|PMID:28779239|PMID:28952030|PMID:29193480|PMID:29212769|PMID:29792937|PMID:30094188|PMID:30236257|PMID:30325262|PMID:30499100|PMID:30864471|PMID:31851124|PMID:32153140|PMID:33060286|PMID:33088529|PMID:33564012|PMID:33667896|PMID:34440373|PMID:34546289|PMID:34608571|PMID:34777470|PMID:35849058|PMID:37234784|PMID:37392848|PMID:37432431|PMID:37510298|PMID:38609989|PMID:39000354|PMID:7847370|PMID:7987325|PMID:8024130|PMID:9066893|PMID:9199552|PMID:9536098
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:8545	malignant hyperthermia		ISO	RGD:736857	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 | ClinVar Annotator: match by term: malignant hyperthermia susceptibility | ClinVar Annotator: match by term: malignant hyperthermia, susceptibility to, 5	PMID:10590402|PMID:11034874|PMID:11260227|PMID:11573677|PMID:11808349|PMID:11940049|PMID:12411788|PMID:15201141|PMID:15726306|PMID:15849247|PMID:16163667|PMID:16199547|PMID:17576681|PMID:1800559|PMID:18325191|PMID:19822448|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20431982|PMID:20861472|PMID:22547813|PMID:22992668|PMID:23019082|PMID:23663834|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:24784157|PMID:25132214|PMID:25430699|PMID:25637381|PMID:25658027|PMID:25717360|PMID:25735680|PMID:25741868|PMID:26188342|PMID:26247046|PMID:26332594|PMID:26467025|PMID:27147545|PMID:28011884|PMID:28012042|PMID:28259615|PMID:28325641|PMID:28492532|PMID:28686619|PMID:28779239|PMID:29193480|PMID:29212769|PMID:29792937|PMID:30094188|PMID:30236257|PMID:30325262|PMID:30499100|PMID:30864471|PMID:31851124|PMID:32153140|PMID:33060286|PMID:33088529|PMID:33564012|PMID:33667896|PMID:34440373|PMID:34546289|PMID:34608571|PMID:34777470|PMID:35849058|PMID:37234784|PMID:37392848|PMID:37432431|PMID:37510298|PMID:38609989|PMID:39000354|PMID:7847370|PMID:7987325|PMID:8024130|PMID:9066893|PMID:9199552|PMID:9536098
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:736857	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Rhabdomyolysis	PMID:25741868|PMID:28779239
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:9003286	Diplopia		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diplopia	PMID:25741868|PMID:28492532
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:9003760	Myalgia		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:9004296	Hypokalemic Periodic Paralysis, Type 1		ISO	RGD:736857	D	RGD:7240710	20260708	OMIM			
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:9004296	Hypokalemic Periodic Paralysis, Type 1		ISO	RGD:736857	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hypokalemic periodic paralysis 1 | ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1	PMID:10074484|PMID:10523403|PMID:10590402|PMID:10639629|PMID:11034874|PMID:11260227|PMID:11328898|PMID:11353725|PMID:11555352|PMID:11591859|PMID:11808349|PMID:11940049|PMID:12411788|PMID:15098604|PMID:15201141|PMID:15711422|PMID:15716625|PMID:15726306|PMID:16163667|PMID:16199547|PMID:17418573|PMID:17576681|PMID:17587224|PMID:18162704|PMID:18229654|PMID:18325191|PMID:18835861|PMID:19118277|PMID:19225109|PMID:19779499|PMID:19822448|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20301512|PMID:20431982|PMID:20861472|PMID:21841462|PMID:21855088|PMID:22547813|PMID:22901280|PMID:22992668|PMID:23187123|PMID:23663834|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24240197|PMID:24433488|PMID:24784157|PMID:25132214|PMID:25213595|PMID:25430699|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26247046|PMID:26252573|PMID:26332594|PMID:26433613|PMID:26467025|PMID:26633545|PMID:27147545|PMID:28008999|PMID:28011884|PMID:28012042|PMID:28259615|PMID:28326467|PMID:28492532|PMID:28686619|PMID:28857175|PMID:28972032|PMID:29048924|PMID:29193480|PMID:29212769|PMID:29572832|PMID:29792937|PMID:30090141|PMID:30236257|PMID:30325262|PMID:3037387|PMID:31068157|PMID:31227654|PMID:31380823|PMID:31447099|PMID:31567646|PMID:32054689|PMID:33005891|PMID:33042247|PMID:33060286|PMID:33184660|PMID:33667896|PMID:34008892|PMID:34440373|PMID:34463712|PMID:34608571|PMID:34804722|PMID:35509735|PMID:7650604|PMID:7847370|PMID:7897626|PMID:7987325|PMID:8004673|PMID:8605978|PMID:9066893|PMID:9132138|PMID:9199552|PMID:9512357|PMID:9536098|PMID:9852570
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:9004296	Hypokalemic Periodic Paralysis, Type 1		ISO	RGD:736857	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 | ClinVar Annotator: match by term: Hypokalemic periodic paralysis 1 | ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1	PMID:10590402|PMID:11034874|PMID:11260227|PMID:11573677|PMID:11591859|PMID:11808349|PMID:11940049|PMID:12411788|PMID:15201141|PMID:15716625|PMID:15726306|PMID:16163667|PMID:16199547|PMID:17418573|PMID:17576681|PMID:18162704|PMID:18229654|PMID:18325191|PMID:18835861|PMID:19118277|PMID:19225109|PMID:19822448|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20431982|PMID:20861472|PMID:21855088|PMID:22547813|PMID:22901280|PMID:22992668|PMID:23019082|PMID:23663834|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24240197|PMID:24433488|PMID:24784157|PMID:25132214|PMID:25213595|PMID:25430699|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26188342|PMID:26247046|PMID:26332594|PMID:26433613|PMID:26467025|PMID:26633545|PMID:26994242|PMID:27147545|PMID:28011884|PMID:28012042|PMID:28259615|PMID:28325641|PMID:28326467|PMID:28492532|PMID:28686619|PMID:29048924|PMID:29193480|PMID:29212769|PMID:29792937|PMID:30094188|PMID:30236257|PMID:30319441|PMID:30325262|PMID:30499100|PMID:30864471|PMID:31851124|PMID:32153140|PMID:33005891|PMID:33060286|PMID:33088529|PMID:33345742|PMID:33564012|PMID:33667896|PMID:34008892|PMID:34440373|PMID:34463712|PMID:34546289|PMID:34608571|PMID:34777470|PMID:35849058|PMID:36779057|PMID:36796140|PMID:37234784|PMID:37392848|PMID:37432431|PMID:37510268|PMID:37510298|PMID:38609989|PMID:39000354|PMID:7847370|PMID:7987325|PMID:8004673|PMID:9066893|PMID:9199552|PMID:9536098
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:9004484	Sepsis		ISO	RGD:70983	D	RGD:9068941	20230615	RGD		protein:decreased expression:diaphragmaticus muscle	PMID:28044347|REF_RGD_ID:329849111
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:9005532	Muscle Weakness		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:28492532
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:26467025|PMID:28492532
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:11034874|PMID:11808349|PMID:23019082|PMID:25430699|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33088529|PMID:37432431|PMID:38609989|PMID:7847370|PMID:7987325
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:9006617	Fatigue		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:25741868|PMID:28492532
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:9006927	Thyrotoxic Periodic Paralysis		ISO	RGD:736857	D	RGD:7240710	20260708	OMIM			
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:9006927	Thyrotoxic Periodic Paralysis		ISO	RGD:736857	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Thyrotoxic periodic paralysis, susceptibility to, 1	PMID:10590402|PMID:11034874|PMID:11260227|PMID:11808349|PMID:11940049|PMID:12411788|PMID:15726306|PMID:16199547|PMID:17576681|PMID:19822448|PMID:19825159|PMID:1982519|PMID:20431982|PMID:22547813|PMID:22992668|PMID:23663834|PMID:24033266|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26247046|PMID:26467025|PMID:28012042|PMID:28259615|PMID:28325641|PMID:28492532|PMID:29193480|PMID:29792937|PMID:30236257|PMID:30325262|PMID:30499100|PMID:32153140|PMID:33060286|PMID:33564012|PMID:33667896|PMID:34440373|PMID:34546289|PMID:34777470|PMID:37392848|PMID:7847370|PMID:7987325|PMID:9066893|PMID:9199552|PMID:9536098
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:9006956	nephrotoxicity	treatment	ISO	RGD:70983	D	RGD:9068941	20230622	RGD			PMID:37244046|REF_RGD_ID:329853759
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:26467025|PMID:28492532
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:9008520	Chronic Pain		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic pain	PMID:25741868|PMID:28492532
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8778210	Cacna1s	calcium voltage-gated channel subunit alpha1 S	gene	DOID:9008993	Myotonia		ISO	RGD:736857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myotonia	PMID:19825159|PMID:1982519|PMID:22547813|PMID:22992668|PMID:23663834|PMID:24433488|PMID:25741868|PMID:28259615|PMID:28492532|PMID:30236257|PMID:33564012|PMID:34546289|PMID:37392848
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:0050840	cervical dystonia		ISO	RGD:734464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:10426	Klippel-Feil syndrome		ISO	RGD:734464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Klippel-Feil syndrome	PMID:25741868
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:10534	stomach cancer		ISO	RGD:734464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:734464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734464	D	RGD:9068941	20200609	RGD		radiation-induced dysplasia and carcinoma in situ;  protein:increased expression:bladder urothelium:increased in Chernobyl victims vs controls from uncontaminated areas of the Ukraine (p<0.001)	PMID:16407042|REF_RGD_ID:2301343
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:734464	D	RGD:9068941	20200609	RGD		mRNA:increased expression:left ventricle	PMID:23360823|REF_RGD_ID:13831294
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:1657	ventricular septal defect		ISO	RGD:734464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:1882	atrial heart septal defect		ISO	RGD:734464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:2394	ovarian cancer		ISO	RGD:734464	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor:relative to normal ovarian epithelium from the same patient (p<0.01)	PMID:15735760|REF_RGD_ID:2301345
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:305	carcinoma		ISO	RGD:734464	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:3275	thymoma		ISO	RGD:734464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:4362	cervical cancer		ISO	RGD:734464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:540	strabismus		ISO	RGD:734464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:674	cleft palate		ISO	RGD:734464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:734464	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:734464	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:734464	D	RGD:9068941	20200609	RGD		MCF-7 human breast cancer cell tumors grown in nude mice	PMID:15735760|REF_RGD_ID:2301345
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:734464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8778258	Ube2i	ubiquitin conjugating enzyme E2 I	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8778277	Actn4	actinin alpha 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8778277	Actn4	actinin alpha 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8778277	Actn4	actinin alpha 4	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:735302	D	RGD:7240710	20180221	OMIM			
8778277	Actn4	actinin alpha 4	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ACTN4-related condition | ClinVar Annotator: match by term: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 | ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 | ClinVar Annotator: match by term: focal segmental glomerulosclerosis 1	PMID:10700177|PMID:16251236|PMID:17576681|PMID:22351778|PMID:23890478|PMID:25741868|PMID:26301083|PMID:26467025|PMID:26740551|PMID:28492532|PMID:29869118|PMID:31027891|PMID:36090564|PMID:9536098
8778277	Actn4	actinin alpha 4	gene	DOID:10534	stomach cancer		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8778277	Actn4	actinin alpha 4	gene	DOID:1115	sarcoma		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8778277	Actn4	actinin alpha 4	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:16251236|PMID:19142020|PMID:23890478|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29869118|PMID:31027891|PMID:31930129
8778277	Actn4	actinin alpha 4	gene	DOID:1312	focal segmental glomerulosclerosis	susceptibility	ISO	RGD:735302	D	RGD:9068941	20200609	RGD			PMID:10700177|REF_RGD_ID:1598731
8778277	Actn4	actinin alpha 4	gene	DOID:1324	lung cancer		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8778277	Actn4	actinin alpha 4	gene	DOID:1909	melanoma		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8778277	Actn4	actinin alpha 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8778277	Actn4	actinin alpha 4	gene	DOID:305	carcinoma		ISO	RGD:735302	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8778277	Actn4	actinin alpha 4	gene	DOID:3275	thymoma		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8778277	Actn4	actinin alpha 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8778277	Actn4	actinin alpha 4	gene	DOID:4362	cervical cancer		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8778277	Actn4	actinin alpha 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8778277	Actn4	actinin alpha 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8778277	Actn4	actinin alpha 4	gene	DOID:5041	esophageal cancer		ISO	RGD:735302	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8778277	Actn4	actinin alpha 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8778277	Actn4	actinin alpha 4	gene	DOID:557	kidney disease		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:25741868|PMID:28492532
8778277	Actn4	actinin alpha 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8778277	Actn4	actinin alpha 4	gene	DOID:6039	uveal melanoma		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
8778277	Actn4	actinin alpha 4	gene	DOID:630	genetic disease		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8778277	Actn4	actinin alpha 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8778277	Actn4	actinin alpha 4	gene	DOID:784	chronic kidney disease		ISO	RGD:735302	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868
8778277	Actn4	actinin alpha 4	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:735302	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8778277	Actn4	actinin alpha 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8778277	Actn4	actinin alpha 4	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:735302	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8778277	Actn4	actinin alpha 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8778277	Actn4	actinin alpha 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:735302	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8778277	Actn4	actinin alpha 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8778277	Actn4	actinin alpha 4	gene	DOID:9256	colorectal cancer		ISO	RGD:735302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8778310	Scgb3a2	secretoglobin family 3A member 2	gene	DOID:0050127	sinusitis		ISO	RGD:1346821	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:nasal mucosa	PMID:21385388|REF_RGD_ID:5147389
8778310	Scgb3a2	secretoglobin family 3A member 2	gene	DOID:2841	asthma		ISO	RGD:1346821	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ASTHMA, SUSCEPTIBILITY TO	
8778310	Scgb3a2	secretoglobin family 3A member 2	gene	DOID:2841	asthma	no_association	ISO	RGD:1346821	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-112G>A (human)	PMID:18201431|REF_RGD_ID:5144230
8778310	Scgb3a2	secretoglobin family 3A member 2	gene	DOID:2841	asthma	severity	ISO	RGD:1346821	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-112G>A (human)	PMID:18089940|REF_RGD_ID:5144231
8778310	Scgb3a2	secretoglobin family 3A member 2	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1346821	D	RGD:7240710	20190502	OMIM			
8778310	Scgb3a2	secretoglobin family 3A member 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1558355	D	RGD:9068941	20200609	RGD			PMID:21478551|REF_RGD_ID:5144129
8778310	Scgb3a2	secretoglobin family 3A member 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1346821	D	RGD:9068941	20200609	RGD			PMID:20466451|REF_RGD_ID:5147390
8778310	Scgb3a2	secretoglobin family 3A member 2	gene	DOID:4481	allergic rhinitis	susceptibility	ISO	RGD:1346821	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs7726552 (human)	PMID:21410962|REF_RGD_ID:5144225
8778310	Scgb3a2	secretoglobin family 3A member 2	gene	DOID:4483	rhinitis		ISO	RGD:1346821	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:nasal mucosa	PMID:21385388|REF_RGD_ID:5147389
8778310	Scgb3a2	secretoglobin family 3A member 2	gene	DOID:4483	rhinitis		ISO	RGD:1346821	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum	PMID:17218572|REF_RGD_ID:5144232
8778310	Scgb3a2	secretoglobin family 3A member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778310	Scgb3a2	secretoglobin family 3A member 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1346821	D	RGD:9068941	20200609	RGD			PMID:19418968|REF_RGD_ID:5147392
8778310	Scgb3a2	secretoglobin family 3A member 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1558355	D	RGD:9068941	20200609	RGD			PMID:20466451|REF_RGD_ID:5147390
8778371	Spns3	SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8778371	Spns3	SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative)	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8778371	Spns3	SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative)	gene	DOID:1909	melanoma		ISO	RGD:1601816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8778371	Spns3	SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative)	gene	DOID:3275	thymoma		ISO	RGD:1601816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8778371	Spns3	SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778371	Spns3	SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8778371	Spns3	SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8778396	Rsad2	radical S-adenosyl methionine domain containing 2	gene	DOID:0080600	COVID-19		ISO	RGD:1345303	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8778396	Rsad2	radical S-adenosyl methionine domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1345303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8778396	Rsad2	radical S-adenosyl methionine domain containing 2	gene	DOID:1273	respiratory syncytial virus infectious disease		IEP		D	RGD:11554170|PMID:23018837	20161020	RGD			
8778396	Rsad2	radical S-adenosyl methionine domain containing 2	gene	DOID:1273	respiratory syncytial virus infectious disease	treatment	ISS	RGD:1345303	D	RGD:11554170|PMID:23018837	20161020	RGD			
8778396	Rsad2	radical S-adenosyl methionine domain containing 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1345303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8778396	Rsad2	radical S-adenosyl methionine domain containing 2	gene	DOID:6000	congestive heart failure		ISO	RGD:1345303	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
8778396	Rsad2	radical S-adenosyl methionine domain containing 2	gene	DOID:9001488	Human Influenza		ISO	RGD:1345303	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
8778396	Rsad2	radical S-adenosyl methionine domain containing 2	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1345303	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
8778396	Rsad2	radical S-adenosyl methionine domain containing 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1345303	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8778396	Rsad2	radical S-adenosyl methionine domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8778396	Rsad2	radical S-adenosyl methionine domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8778406	Ap1g1	adaptor related protein complex 1 subunit gamma 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8778406	Ap1g1	adaptor related protein complex 1 subunit gamma 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1346195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8778406	Ap1g1	adaptor related protein complex 1 subunit gamma 1	gene	DOID:12849	autistic disorder		ISO	RGD:1346195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:34102099
8778406	Ap1g1	adaptor related protein complex 1 subunit gamma 1	gene	DOID:1324	lung cancer		ISO	RGD:1346195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8778406	Ap1g1	adaptor related protein complex 1 subunit gamma 1	gene	DOID:1909	melanoma		ISO	RGD:1346195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8778406	Ap1g1	adaptor related protein complex 1 subunit gamma 1	gene	DOID:3070	high grade glioma		ISO	RGD:1346195	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8778406	Ap1g1	adaptor related protein complex 1 subunit gamma 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8778406	Ap1g1	adaptor related protein complex 1 subunit gamma 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8778406	Ap1g1	adaptor related protein complex 1 subunit gamma 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778406	Ap1g1	adaptor related protein complex 1 subunit gamma 1	gene	DOID:630	genetic disease		ISO	RGD:1346195	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:34102099
8778406	Ap1g1	adaptor related protein complex 1 subunit gamma 1	gene	DOID:9000636	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT		ISO	RGD:1346195	D	RGD:7240710	20211215	OMIM			
8778406	Ap1g1	adaptor related protein complex 1 subunit gamma 1	gene	DOID:9000636	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT		ISO	RGD:1346195	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Usmani-Riazuddin syndrome, autosomal dominant	PMID:25741868|PMID:34102099|PMID:36980980
8778406	Ap1g1	adaptor related protein complex 1 subunit gamma 1	gene	DOID:9002076	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE		ISO	RGD:1346195	D	RGD:7240710	20211215	OMIM			
8778406	Ap1g1	adaptor related protein complex 1 subunit gamma 1	gene	DOID:9002076	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE		ISO	RGD:1346195	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Usmani-Riazuddin syndrome, autosomal recessive	PMID:25741868
8778406	Ap1g1	adaptor related protein complex 1 subunit gamma 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346195	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8778406	Ap1g1	adaptor related protein complex 1 subunit gamma 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8778406	Ap1g1	adaptor related protein complex 1 subunit gamma 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:34102099
8778406	Ap1g1	adaptor related protein complex 1 subunit gamma 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8778406	Ap1g1	adaptor related protein complex 1 subunit gamma 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8778406	Ap1g1	adaptor related protein complex 1 subunit gamma 1	gene	DOID:9970	obesity		ISO	RGD:1346195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
8778454	Ribc1	RIB43A domain with coiled-coils 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8778454	Ribc1	RIB43A domain with coiled-coils 1	gene	DOID:1909	melanoma		ISO	RGD:1344064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MELANOMA, MALIGNANT	
8778454	Ribc1	RIB43A domain with coiled-coils 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778454	Ribc1	RIB43A domain with coiled-coils 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8778454	Ribc1	RIB43A domain with coiled-coils 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8778454	Ribc1	RIB43A domain with coiled-coils 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8778490	Pitx3	paired like homeodomain 3	gene	DOID:0060648	anterior segment dysgenesis		ISO	RGD:732297	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:18989383|PMID:9620774
8778490	Pitx3	paired like homeodomain 3	gene	DOID:0060648	anterior segment dysgenesis		ISO	RGD:732297	D	RGD:9068941	20220512	RGD		DNA:insertion:exon:c.657ins17bp	PMID:18989383|REF_RGD_ID:11535067
8778490	Pitx3	paired like homeodomain 3	gene	DOID:0060648	anterior segment dysgenesis		ISO	RGD:736766	D	RGD:9068941	20221027	MouseDO			
8778490	Pitx3	paired like homeodomain 3	gene	DOID:0080606	anterior segment dysgenesis 1		ISO	RGD:732297	D	RGD:7240710	20190327	OMIM			
8778490	Pitx3	paired like homeodomain 3	gene	DOID:0110249	cataract 11 multiple types		ISO	RGD:732297	D	RGD:7240710	20180130	OMIM			
8778490	Pitx3	paired like homeodomain 3	gene	DOID:0110266	cataract 9 multiple types		ISO	RGD:732297	D	RGD:9068941	20200609	RGD		DNA:missense mutation, insertion:cds:p.S13N, G219fsX226 (human)	PMID:9620774|REF_RGD_ID:737764
8778490	Pitx3	paired like homeodomain 3	gene	DOID:10629	microphthalmia		ISO	RGD:732297	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16565358
8778490	Pitx3	paired like homeodomain 3	gene	DOID:10629	microphthalmia		ISO	RGD:736766	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation:cl444C>A(mouse)	PMID:25347445|REF_RGD_ID:11535071
8778490	Pitx3	paired like homeodomain 3	gene	DOID:14330	Parkinson's disease		ISO	RGD:736766	D	RGD:9068941	20200609	RGD			PMID:18573342|REF_RGD_ID:11535079
8778490	Pitx3	paired like homeodomain 3	gene	DOID:14330	Parkinson's disease		ISO	RGD:736766	D	RGD:9068941	20220825	MouseDO		OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251	
8778490	Pitx3	paired like homeodomain 3	gene	DOID:630	genetic disease		ISO	RGD:732297	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8778490	Pitx3	paired like homeodomain 3	gene	DOID:83	cataract		ISO	RGD:732297	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:16565358|PMID:9620774
8778490	Pitx3	paired like homeodomain 3	gene	DOID:83	cataract		ISO	RGD:732297	D	RGD:9068941	20260521	RGD		DNA:insertion:exon:c.657ins17bp	PMID:15665340|REF_RGD_ID:11535076
8778490	Pitx3	paired like homeodomain 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732297	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27415467
8778490	Pitx3	paired like homeodomain 3	gene	DOID:9003814	Neurologic Manifestations		ISO	RGD:732297	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16565358
8778490	Pitx3	paired like homeodomain 3	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:732297	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27415467
8778490	Pitx3	paired like homeodomain 3	gene	DOID:9008804	Aphakia		ISO	RGD:736766	D	RGD:9068941	20200609	RGD		DNA:deletions:promoter, cds:	PMID:11247667|REF_RGD_ID:11535075
8778490	Pitx3	paired like homeodomain 3	gene	DOID:9008804	Aphakia		ISO	RGD:736766	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation:cl444C>A(mouse)	PMID:25347445|REF_RGD_ID:11535071
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:0050700	cardiomyopathy		ISO	RGD:731965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:22033733|PMID:25865301|PMID:28492532
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731965	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:731965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:731965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy	PMID:22033733|PMID:25865301|PMID:28492532
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:12849	autistic disorder		ISO	RGD:731965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:1324	lung cancer		ISO	RGD:731965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:14701	propionic acidemia		ISO	RGD:731965	D	RGD:7240710	20180130	OMIM			
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:14701	propionic acidemia		ISO	RGD:731965	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: KETOTIC HYPERGLYCINEMIA | ClinVar Annotator: match by term: Ketotic hyperglycinemia | ClinVar Annotator: match by term: PROPIONIC ACIDEMIA | ClinVar Annotator: match by term: Propionic Acidemia | ClinVar Annotator: match by term: Propionic acidemia | ClinVar Annotator: match by term: Propionyl-CoA carboxylase deficiency	PMID:10447268|PMID:10780784|PMID:10820128|PMID:10910839|PMID:11136555|PMID:11749052|PMID:12007220|PMID:12189489|PMID:12409268|PMID:12559849|PMID:12757933|PMID:12888983|PMID:15059621|PMID:15235904|PMID:15464417|PMID:15890657|PMID:15949719|PMID:16199547|PMID:17051315|PMID:17415538|PMID:17576681|PMID:17966092|PMID:18599334|PMID:19099776|PMID:19238581|PMID:19342984|PMID:20549364|PMID:20725044|PMID:21125326|PMID:22033733|PMID:22156789|PMID:22334403|PMID:22593918|PMID:22863191|PMID:23053474|PMID:23430860|PMID:24033266|PMID:24059531|PMID:24516753|PMID:24863100|PMID:24916042|PMID:25047749|PMID:25087612|PMID:25495354|PMID:25636094|PMID:25741868|PMID:25851414|PMID:25865301|PMID:26467025|PMID:26589311|PMID:26620954|PMID:26830710|PMID:27089410|PMID:27227689|PMID:27243974|PMID:27578510|PMID:27776753|PMID:27825584|PMID:27900673|PMID:28492532|PMID:28649556|PMID:28853722|PMID:29033250|PMID:29247206|PMID:29592908|PMID:29679984|PMID:30013935|PMID:30159853|PMID:30274917|PMID:30705822|PMID:30904546|PMID:31249402|PMID:31319225|PMID:31757659|PMID:31808324|PMID:31828787|PMID:31916709|PMID:31951825|PMID:32252659|PMID:32778825|PMID:33028371|PMID:33123633|PMID:33473339|PMID:33587123|PMID:33725819|PMID:33798502|PMID:33923806|PMID:33981581|PMID:34203287|PMID:34297429|PMID:35189944|PMID:35296328|PMID:35331292|PMID:35460704|PMID:36102083|PMID:36619936|PMID:36662638|PMID:36801247|PMID:36964991|PMID:37308883|PMID:37482098|PMID:37689673|PMID:37776842|PMID:38200289|PMID:38458754|PMID:38563533|PMID:38722054|PMID:38863445|PMID:7227689|PMID:8023851|PMID:8295402|PMID:8411997|PMID:8852656|PMID:9452096|PMID:9536098|PMID:9683601
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:3070	high grade glioma		ISO	RGD:731965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:4362	cervical cancer		ISO	RGD:731965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:5041	esophageal cancer		ISO	RGD:731965	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:630	genetic disease		ISO	RGD:731965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:731965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:28492532
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:9000727	Syncope		ISO	RGD:731965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:28492532
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:9001733	Tinnitus		ISO	RGD:731965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:731965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:9003539	Hyperacusis		ISO	RGD:731965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:9005077	Joint Instability		ISO	RGD:731965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731965	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:9007736	Vertigo		ISO	RGD:731965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731965	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:9008972	Hyperammonemia		ISO	RGD:731965	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hyperammonaemia | ClinVar Annotator: match by term: Hyperammonemia	PMID:25741868|PMID:28492532
8778506	Pccb	propionyl-CoA carboxylase subunit beta	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:731965	D	RGD:9068941	20200609	RGD		propionic acidemia, OMIM:606054, DNA:point mutation:exon:R412W	PMID:8411997|REF_RGD_ID:1600331
8778530	Mafk	MAF bZIP transcription factor K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778530	Mafk	MAF bZIP transcription factor K	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8778540	Pskh1	protein serine kinase H1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8778540	Pskh1	protein serine kinase H1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8778540	Pskh1	protein serine kinase H1	gene	DOID:1909	melanoma		ISO	RGD:1312210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8778540	Pskh1	protein serine kinase H1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8778540	Pskh1	protein serine kinase H1	gene	DOID:9009191	Progressive Familial Intrahepatic Cholestasis 13		ISO	RGD:1312210	D	RGD:7240710	20241016	OMIM			
8778540	Pskh1	protein serine kinase H1	gene	DOID:9009191	Progressive Familial Intrahepatic Cholestasis 13		ISO	RGD:1312210	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 13 | ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 13	PMID:25741868
8778548	Cfap44	cilia and flagella associated protein 44	gene	DOID:0070166	spermatogenic failure 20		ISO	RGD:1343890	D	RGD:7240710	20190315	OMIM			
8778587	Nek8	NIMA related kinase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8778587	Nek8	NIMA related kinase 8	gene	DOID:0051081	polycystic kidney disease 8		ISO	RGD:1315774	D	RGD:7240710	20240925	OMIM			
8778587	Nek8	NIMA related kinase 8	gene	DOID:0051081	polycystic kidney disease 8		ISO	RGD:1315774	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 8 | ClinVar Annotator: match by term: Polycystic kidney disease 8	PMID:25741868|PMID:26967905|PMID:28492532|PMID:30029678
8778587	Nek8	NIMA related kinase 8	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
8778587	Nek8	NIMA related kinase 8	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1315774	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: polycystic kidney disease	PMID:25741868|PMID:26967905|PMID:28492532|PMID:32574212|PMID:36215968|PMID:37598857|PMID:40677363
8778587	Nek8	NIMA related kinase 8	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1552572	D	RGD:9068941	20220825	MouseDO		OMIM:263200	
8778587	Nek8	NIMA related kinase 8	gene	DOID:0111120	nephronophthisis 9		ISO	RGD:1315774	D	RGD:7240710	20180130	OMIM			
8778587	Nek8	NIMA related kinase 8	gene	DOID:0111120	nephronophthisis 9		ISO	RGD:1315774	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephronophthisis 9	PMID:16199547|PMID:17576681|PMID:18199800|PMID:22106379|PMID:23026745|PMID:23418306|PMID:25741868|PMID:26967905|PMID:28387813|PMID:28492532|PMID:32773771|PMID:35368817|PMID:37372416|PMID:37598857|PMID:9536098
8778587	Nek8	NIMA related kinase 8	gene	DOID:0111365	benign familial hematuria		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microscopic hematuria	PMID:25741868
8778587	Nek8	NIMA related kinase 8	gene	DOID:10534	stomach cancer		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8778587	Nek8	NIMA related kinase 8	gene	DOID:1074	kidney failure		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kidney failure	PMID:25741868
8778587	Nek8	NIMA related kinase 8	gene	DOID:10787	premature menopause		ISO	RGD:1315774	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Premature menopause	PMID:23418306|PMID:25741868|PMID:26967905|PMID:28492532
8778587	Nek8	NIMA related kinase 8	gene	DOID:4362	cervical cancer		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8778587	Nek8	NIMA related kinase 8	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1315774	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:23418306|PMID:25741868|PMID:26967905|PMID:28492532
8778587	Nek8	NIMA related kinase 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8778587	Nek8	NIMA related kinase 8	gene	DOID:557	kidney disease		ISO	RGD:1315774	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:18199800
8778587	Nek8	NIMA related kinase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778587	Nek8	NIMA related kinase 8	gene	DOID:630	genetic disease		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26967905|PMID:28492532
8778587	Nek8	NIMA related kinase 8	gene	DOID:784	chronic kidney disease		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868
8778587	Nek8	NIMA related kinase 8	gene	DOID:9001222	Renal-Hepatic-Pancreatic Dysplasia 2		ISO	RGD:1315774	D	RGD:7240710	20180130	OMIM			
8778587	Nek8	NIMA related kinase 8	gene	DOID:9001222	Renal-Hepatic-Pancreatic Dysplasia 2		ISO	RGD:1315774	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 | ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2	PMID:17576681|PMID:23418306|PMID:25741868|PMID:25741876|PMID:26697755|PMID:26862157|PMID:26967905|PMID:28492532|PMID:9536098
8778587	Nek8	NIMA related kinase 8	gene	DOID:9001542	Albuminuria		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albuminuria	PMID:25741868
8778587	Nek8	NIMA related kinase 8	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
8778587	Nek8	NIMA related kinase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8778587	Nek8	NIMA related kinase 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8778609	Fgl1	fibrinogen like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8778609	Fgl1	fibrinogen like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8778609	Fgl1	fibrinogen like 1	gene	DOID:10534	stomach cancer		ISO	RGD:737041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8778609	Fgl1	fibrinogen like 1	gene	DOID:4362	cervical cancer		ISO	RGD:737041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8778609	Fgl1	fibrinogen like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8778609	Fgl1	fibrinogen like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8778609	Fgl1	fibrinogen like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8778621	Znf335	zinc finger protein 335	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8778621	Znf335	zinc finger protein 335	gene	DOID:0060249	scoliosis		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
8778621	Znf335	zinc finger protein 335	gene	DOID:0070294	primary autosomal recessive microcephaly 10		ISO	RGD:732123	D	RGD:7240710	20180130	OMIM			
8778621	Znf335	zinc finger protein 335	gene	DOID:0070294	primary autosomal recessive microcephaly 10		ISO	RGD:732123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 10, primary, autosomal recessive | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 10 | ClinVar Annotator: match by term: ZNF335-related condition	PMID:18414213|PMID:23178126|PMID:25741868|PMID:28492532|PMID:29652087
8778621	Znf335	zinc finger protein 335	gene	DOID:0070296	autosomal recessive primary microcephaly		ISO	RGD:732123	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Autosomal recessive primary microcephaly	PMID:25741868
8778621	Znf335	zinc finger protein 335	gene	DOID:0070297	primary microcephaly		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
8778621	Znf335	zinc finger protein 335	gene	DOID:10534	stomach cancer		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8778621	Znf335	zinc finger protein 335	gene	DOID:1059	intellectual disability		ISO	RGD:732123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8778621	Znf335	zinc finger protein 335	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8778621	Znf335	zinc finger protein 335	gene	DOID:12849	autistic disorder		ISO	RGD:732123	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder of childhood onset	
8778621	Znf335	zinc finger protein 335	gene	DOID:12849	autistic disorder		ISO	RGD:732123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868
8778621	Znf335	zinc finger protein 335	gene	DOID:1324	lung cancer		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	
8778621	Znf335	zinc finger protein 335	gene	DOID:1826	epilepsy		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:29652087
8778621	Znf335	zinc finger protein 335	gene	DOID:1909	melanoma		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8778621	Znf335	zinc finger protein 335	gene	DOID:1969	cerebral palsy		ISO	RGD:732123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
8778621	Znf335	zinc finger protein 335	gene	DOID:3275	thymoma		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8778621	Znf335	zinc finger protein 335	gene	DOID:480	movement disease		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:19131338|PMID:22495306|PMID:23178126|PMID:26795593|PMID:27540107
8778621	Znf335	zinc finger protein 335	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8778621	Znf335	zinc finger protein 335	gene	DOID:5041	esophageal cancer		ISO	RGD:732123	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8778621	Znf335	zinc finger protein 335	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8778621	Znf335	zinc finger protein 335	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778621	Znf335	zinc finger protein 335	gene	DOID:630	genetic disease		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19131338|PMID:22495306|PMID:23178126|PMID:25741868|PMID:26795593|PMID:27540107|PMID:28492532
8778621	Znf335	zinc finger protein 335	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:29652087
8778621	Znf335	zinc finger protein 335	gene	DOID:9003016	Aminoacylase 1 Deficiency		ISO	RGD:732123	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Aminoacylase 1 deficiency	
8778672	Armh3	armadillo like helical domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8778672	Armh3	armadillo like helical domain containing 3	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1313900	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
8778672	Armh3	armadillo like helical domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8778672	Armh3	armadillo like helical domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8778672	Armh3	armadillo like helical domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1313900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8778672	Armh3	armadillo like helical domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1313900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8778672	Armh3	armadillo like helical domain containing 3	gene	DOID:3070	high grade glioma		ISO	RGD:1313900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8778672	Armh3	armadillo like helical domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1313900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8778672	Armh3	armadillo like helical domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1313900	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8778672	Armh3	armadillo like helical domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778672	Armh3	armadillo like helical domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8778672	Armh3	armadillo like helical domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8778712	Selenoo	selenoprotein O	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8778712	Selenoo	selenoprotein O	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8778712	Selenoo	selenoprotein O	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8778712	Selenoo	selenoprotein O	gene	DOID:1324	lung cancer		ISO	RGD:1605929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8778712	Selenoo	selenoprotein O	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8778712	Selenoo	selenoprotein O	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8778712	Selenoo	selenoprotein O	gene	DOID:5041	esophageal cancer		ISO	RGD:1605929	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8778712	Selenoo	selenoprotein O	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778712	Selenoo	selenoprotein O	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8778712	Selenoo	selenoprotein O	gene	DOID:9256	colorectal cancer		ISO	RGD:1605929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8778734	Msantd4	Myb/SANT DNA binding domain containing 4 with coiled-coils	gene	DOID:1115	sarcoma		ISO	RGD:1603604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8778734	Msantd4	Myb/SANT DNA binding domain containing 4 with coiled-coils	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8778734	Msantd4	Myb/SANT DNA binding domain containing 4 with coiled-coils	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778741	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8778741	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:10534	stomach cancer		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8778741	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:1115	sarcoma		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8778741	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:1324	lung cancer		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8778741	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8778741	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:3070	high grade glioma		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8778741	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:4362	cervical cancer		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8778741	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8778741	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:5041	esophageal cancer		ISO	RGD:1601977	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8778741	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8778741	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778741	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8778741	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8778741	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8778741	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8778741	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:9256	colorectal cancer		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8778765	Lysmd3	LysM domain containing 3	gene	DOID:0050742	nicotine dependence		ISO	RGD:1606178	D	RGD:9068941	20241107	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
8778765	Lysmd3	LysM domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8778765	Lysmd3	LysM domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778765	Lysmd3	LysM domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8778790	Tcf15	transcription factor 15	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1318246	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8778802	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8778802	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8778802	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8778802	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8778802	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8778802	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8778802	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8778802	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8778802	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346472	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8778802	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8778802	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778802	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1346472	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8778802	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8778802	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8778802	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8778802	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8778802	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:0050890	synucleinopathy	ameliorates	ISO	RGD:1561168	D	RGD:9068941	20221201	RGD			PMID:24927544|REF_RGD_ID:13462057
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:0060180	colitis		ISO	RGD:1557751	D	RGD:9068941	20200609	RGD			PMID:21983832|REF_RGD_ID:5508401
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:0060260	ptosis		ISO	RGD:1353141	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:31174552
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:0060371	Parkinson's disease 8		ISO	RGD:1353141	D	RGD:7240710	20180130	OMIM			
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:0060371	Parkinson's disease 8		ISO	RGD:1353141	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 8 | ClinVar Annotator: match by term: LRRK2-related condition | ClinVar Annotator: match by term: PARKINSON DISEASE 8, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Parkinson disease 8, autosomal dominant	PMID:15541308|PMID:15541309|PMID:15852371|PMID:15880653|PMID:15925109|PMID:16157901|PMID:16157908|PMID:16172858|PMID:16199547|PMID:16247070|PMID:16251215|PMID:16269443|PMID:16321986|PMID:16333314|PMID:16533964|PMID:16602113|PMID:16633828|PMID:16750377|PMID:16758483|PMID:16788020|PMID:16939701|PMID:16991141|PMID:17019612|PMID:17050822|PMID:17078063|PMID:17095157|PMID:17149743|PMID:17179858|PMID:17200152|PMID:17216639|PMID:17222106|PMID:17314670|PMID:17419834|PMID:17427941|PMID:17447891|PMID:17482357|PMID:17523199|PMID:17576681|PMID:17622782|PMID:17623048|PMID:17659642|PMID:17720280|PMID:17803033|PMID:17804834|PMID:17914064|PMID:18098275|PMID:18197194|PMID:18213618|PMID:18230735|PMID:18265005|PMID:18316234|PMID:18358451|PMID:18523869|PMID:18688798|PMID:18704525|PMID:18923807|PMID:18973254|PMID:18973807|PMID:19006185|PMID:19020907|PMID:19152345|PMID:19302196|PMID:19308469|PMID:19343804|PMID:19357115|PMID:19397894|PMID:19405094|PMID:19472409|PMID:19489756|PMID:19527940|PMID:19625296|PMID:19640773|PMID:19735093|PMID:19741132|PMID:19800393|PMID:19854095|PMID:20177695|PMID:20186690|PMID:20301387|PMID:20386743|PMID:20443975|PMID:20642453|PMID:20669299|PMID:20673920|PMID:20721913|PMID:21060682|PMID:21406209|PMID:21538529|PMID:21632271|PMID:21641848|PMID:21658387|PMID:21661047|PMID:21700325|PMID:21796139|PMID:21885347|PMID:22004453|PMID:22243833|PMID:22342962|PMID:22415848|PMID:22445250|PMID:22575234|PMID:22612223|PMID:22988866|PMID:22988870|PMID:23124679|PMID:23241358|PMID:23241745|PMID:23268655|PMID:23600457|PMID:23726462|PMID:23764467|PMID:23913756|PMID:23963289|PMID:24033266|PMID:24046064|PMID:24082139|PMID:24095219|PMID:24339985|PMID:24351927|PMID:24357540|PMID:24360742|PMID:24375786|PMID:24470158|PMID:24488318|PMID:24559644|PMID:24565865|PMID:24695735|PMID:24973808|PMID:25009464|PMID:25027012|PMID:25127457|PMID:25133958|PMID:25174650|PMID:25243190|PMID:25330418|PMID:25378673|PMID:25466404|PMID:25511328|PMID:25640679|PMID:25741868|PMID:25821816|PMID:25943890|PMID:25962553|PMID:26213354|PMID:26311745|PMID:26467025|PMID:26687033|PMID:27013965|PMID:27094865|PMID:27111571|PMID:27294386|PMID:27393345|PMID:27798102|PMID:27832104|PMID:28103901|PMID:28130640|PMID:28166811|PMID:28453723|PMID:28492532|PMID:29029963|PMID:29248340|PMID:29321258|PMID:29332010|PMID:29369408|PMID:29800472|PMID:29887346|PMID:30039155|PMID:30049590|PMID:30363439|PMID:30502028|PMID:30598256|PMID:30796162|PMID:30917570|PMID:31182772|PMID:31487119|PMID:32171587|PMID:32244201|PMID:32398759|PMID:32557143|PMID:32613234|PMID:32677286|PMID:32677319|PMID:32707456|PMID:32740907|PMID:32794657|PMID:33158606|PMID:33281709|PMID:33640967|PMID:33818904|PMID:33836114|PMID:34542912|PMID:35608967|PMID:35768426|PMID:35861376|PMID:35950872|PMID:36006382|PMID:36879366|PMID:37256495|PMID:37371062|PMID:37750340|PMID:38137339|PMID:38191580|PMID:38753688|PMID:40786864|PMID:41744785|PMID:9536098
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinson disease, late-onset	PMID:15541309|PMID:21538529|PMID:24565865|PMID:27111571|PMID:28492532
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:0080855	Parkinsonism		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:15541309|PMID:16333314|PMID:17622782|PMID:20301387|PMID:20443975|PMID:22415848|PMID:24339985|PMID:25378673|PMID:25741868|PMID:26467025|PMID:27423549|PMID:28492532|PMID:32740907|PMID:33001463|PMID:35861376|PMID:35950872|PMID:40786864
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:0080856	vascular Parkinsonism		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vascular parkinsonism	PMID:15541309|PMID:16333314|PMID:17622782|PMID:20301387|PMID:20443975|PMID:22415848|PMID:24339985|PMID:25378673|PMID:25741868|PMID:26467025|PMID:27423549|PMID:28492532|PMID:32740907|PMID:33001463|PMID:35861376|PMID:35950872|PMID:40786864
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:1024	leprosy		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leprosy, susceptibility to, 1	
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1561168	D	RGD:9068941	20200609	RGD			PMID:24927544|REF_RGD_ID:13462057
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinson disease	PMID:15541309|PMID:16333314|PMID:17622782|PMID:20301387|PMID:20443975|PMID:22415848|PMID:24339985|PMID:25378673|PMID:25741868|PMID:26467025|PMID:27423549|PMID:28492532|PMID:31731261|PMID:32740907|PMID:33001463|PMID:35861376|PMID:35950872|PMID:40786864
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:14330	Parkinson's disease	no_association	ISO	RGD:1353141	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.G2019S (human)	PMID:21483109|REF_RGD_ID:5508406
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:14330	Parkinson's disease	susceptibility	ISO	RGD:1353141	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.R1398H (human)	PMID:21159540|REF_RGD_ID:5508409
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:162	cancer	susceptibility	ISO	RGD:1353141	D	RGD:9068941	20200609	RGD		associated with Parkinson Disease;DNA:missense mutation:cds:p.G2019S (human)	PMID:20818610|REF_RGD_ID:5508410
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16172858|PMID:19472409|PMID:20301387|PMID:21885347|PMID:25741868|PMID:28492532
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:289	endometriosis		ISO	RGD:1353141	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1353141	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skeletal muscle	PMID:21375368|REF_RGD_ID:5508417
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1353141	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138691
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1353141	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:543	dystonia		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paroxysmal dystonia	PMID:25741868
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:630	genetic disease		ISO	RGD:1353141	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15541309|PMID:15680455|PMID:15680456|PMID:15680457|PMID:15726496|PMID:15732108|PMID:15811455|PMID:15852371|PMID:15880653|PMID:15929036|PMID:15955629|PMID:16001413|PMID:16102999|PMID:16115731|PMID:16145815|PMID:16157901|PMID:16157908|PMID:16172858|PMID:16240353|PMID:16251215|PMID:16269443|PMID:16269541|PMID:16311269|PMID:16333314|PMID:16401756|PMID:16436781|PMID:16436782|PMID:16533964|PMID:16602113|PMID:16622854|PMID:16728648|PMID:16750377|PMID:16758483|PMID:16939701|PMID:16960813|PMID:16966501|PMID:16966502|PMID:17050822|PMID:17060595|PMID:17078063|PMID:17215492|PMID:17353388|PMID:17803033|PMID:17938369|PMID:18213618|PMID:18539534|PMID:18539535|PMID:18704525|PMID:18981379|PMID:18986508|PMID:19020907|PMID:19283415|PMID:19357115|PMID:19472409|PMID:19489756|PMID:19527940|PMID:20008657|PMID:20197411|PMID:20301387|PMID:20413974|PMID:20669299|PMID:21115957|PMID:21234781|PMID:21280089|PMID:21753163|PMID:21850687|PMID:21885347|PMID:22445250|PMID:22539006|PMID:22575234|PMID:23075850|PMID:23472874|PMID:24033266|PMID:24148854|PMID:24243757|PMID:24816003|PMID:25330418|PMID:25741868|PMID:26062626|PMID:26251043|PMID:26467025|PMID:28465860|PMID:28492532|PMID:28639421|PMID:29309488|PMID:29386392|PMID:29402177|PMID:30760999|PMID:33158606|PMID:33640967
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:630	genetic disease		ISO	RGD:1353141	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15541309|PMID:15680455|PMID:15680456|PMID:15680457|PMID:15726496|PMID:15732108|PMID:15811455|PMID:15852371|PMID:15880653|PMID:15929036|PMID:15955629|PMID:16001413|PMID:16102999|PMID:16115731|PMID:16145815|PMID:16157901|PMID:16157908|PMID:16172858|PMID:16240353|PMID:16251215|PMID:16269443|PMID:16269541|PMID:16311269|PMID:16311595|PMID:16333314|PMID:16401756|PMID:16436781|PMID:16436782|PMID:16533964|PMID:16602113|PMID:16622854|PMID:16728648|PMID:16750377|PMID:16758483|PMID:16939701|PMID:16960813|PMID:16966501|PMID:16966502|PMID:17050822|PMID:17060595|PMID:17078063|PMID:17215492|PMID:17353388|PMID:17803033|PMID:17938369|PMID:18213618|PMID:18539534|PMID:18539535|PMID:18704525|PMID:18981379|PMID:18986508|PMID:19020907|PMID:19283415|PMID:19357115|PMID:19472409|PMID:19489756|PMID:19527940|PMID:20008657|PMID:20197411|PMID:20301387|PMID:20413974|PMID:20669299|PMID:21115957|PMID:21234781|PMID:21280089|PMID:21753163|PMID:21850687|PMID:21885347|PMID:22445250|PMID:22539006|PMID:22575234|PMID:23075850|PMID:23472874|PMID:24033266|PMID:24148854|PMID:24243757|PMID:24816003|PMID:25330418|PMID:25741868|PMID:26062626|PMID:26251043|PMID:26467025|PMID:28465860|PMID:28492532|PMID:28639421|PMID:29309488|PMID:29386392|PMID:29402177|PMID:30760999|PMID:32613234|PMID:33158606|PMID:33640967
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:630	genetic disease		ISO	RGD:1353141	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15541309|PMID:15852371|PMID:15880653|PMID:16157908|PMID:16172858|PMID:16251215|PMID:16269443|PMID:16333314|PMID:16602113|PMID:16758483|PMID:16939701|PMID:17050822|PMID:17078063|PMID:17803033|PMID:19472409|PMID:19527940|PMID:20301387|PMID:20669299|PMID:21885347|PMID:22445250|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33158606|PMID:33640967|PMID:39051491
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1353141	D	RGD:9068941	20200609	RGD			PMID:17082220|REF_RGD_ID:5508419
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:8778	Crohn's disease		ISO	RGD:1353141	D	RGD:9068941	20200609	RGD		DNA:point mutation: :p.T2397M (rs3761863) (human)	PMID:21983832|REF_RGD_ID:5508401
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:9000071	Signs and Symptoms		ISO	RGD:1353141	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:31174552
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:9001981	Weight Loss		ISO	RGD:1353141	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:31174552
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1353141	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:19741132
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16172858|PMID:19472409|PMID:20301387|PMID:21885347|PMID:25741868|PMID:28492532
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:9008297	Motor Disorders		ISO	RGD:1353141	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:31174552
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:9008514	Psychomotor Disorders		ISO	RGD:1353141	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:31174552
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353141	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1353141	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	
8778824	Lrrk2	leucine rich repeat kinase 2	gene	DOID:9743	diabetic neuropathy		ISO	RGD:1561168	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased expression:cerebellum, Purkinje cell	PMID:24810053|REF_RGD_ID:13462056
8778879	Zfp57	ZFP57 zinc finger protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8778879	Zfp57	ZFP57 zinc finger protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:18414213|PMID:25741868|PMID:28492532
8778879	Zfp57	ZFP57 zinc finger protein	gene	DOID:0060058	lymphoma		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8778879	Zfp57	ZFP57 zinc finger protein	gene	DOID:0060334	transient neonatal diabetes mellitus		ISO	RGD:1344217	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus	PMID:18414213|PMID:18622393|PMID:23748067|PMID:25741868|PMID:28492532|PMID:30315371|PMID:31064016
8778879	Zfp57	ZFP57 zinc finger protein	gene	DOID:0061173	transient neonatal diabetes mellitus 1		ISO	RGD:1344217	D	RGD:7240710	20180130	OMIM			
8778879	Zfp57	ZFP57 zinc finger protein	gene	DOID:0061173	transient neonatal diabetes mellitus 1		ISO	RGD:1344217	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 | ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 1 | ClinVar Annotator: match by term: ZFP57-related condition	PMID:17576681|PMID:18414213|PMID:18622393|PMID:23748067|PMID:25741868|PMID:28492532|PMID:30315371|PMID:9536098
8778879	Zfp57	ZFP57 zinc finger protein	gene	DOID:1115	sarcoma		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:18414213|PMID:25741868|PMID:28492532
8778879	Zfp57	ZFP57 zinc finger protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8778879	Zfp57	ZFP57 zinc finger protein	gene	DOID:3275	thymoma		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8778879	Zfp57	ZFP57 zinc finger protein	gene	DOID:4362	cervical cancer		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8778879	Zfp57	ZFP57 zinc finger protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8778879	Zfp57	ZFP57 zinc finger protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1344217	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8778879	Zfp57	ZFP57 zinc finger protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778879	Zfp57	ZFP57 zinc finger protein	gene	DOID:630	genetic disease		ISO	RGD:1344217	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8778879	Zfp57	ZFP57 zinc finger protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8778879	Zfp57	ZFP57 zinc finger protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8778879	Zfp57	ZFP57 zinc finger protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8778879	Zfp57	ZFP57 zinc finger protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8778879	Zfp57	ZFP57 zinc finger protein	gene	DOID:9351	diabetes mellitus		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:18414213|PMID:25741868|PMID:28492532|PMID:30315371|PMID:31064016
8778891	Slc26a6	solute carrier family 26 member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8778891	Slc26a6	solute carrier family 26 member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8778891	Slc26a6	solute carrier family 26 member 6	gene	DOID:10534	stomach cancer		ISO	RGD:1320955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8778891	Slc26a6	solute carrier family 26 member 6	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8778891	Slc26a6	solute carrier family 26 member 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8778891	Slc26a6	solute carrier family 26 member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1320955	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8778891	Slc26a6	solute carrier family 26 member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778891	Slc26a6	solute carrier family 26 member 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8778891	Slc26a6	solute carrier family 26 member 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320955	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8778891	Slc26a6	solute carrier family 26 member 6	gene	DOID:9004912	Hyperoxaluria		ISO	RGD:1320955	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hyperoxaluria	PMID:25741868
8778891	Slc26a6	solute carrier family 26 member 6	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1320955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8778891	Slc26a6	solute carrier family 26 member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8778891	Slc26a6	solute carrier family 26 member 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8778922	Tmcc3	transmembrane and coiled-coil domain family 3	gene	DOID:10534	stomach cancer		ISO	RGD:1346901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8778922	Tmcc3	transmembrane and coiled-coil domain family 3	gene	DOID:2661	myoepithelioma		ISO	RGD:1346901	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8778922	Tmcc3	transmembrane and coiled-coil domain family 3	gene	DOID:3275	thymoma		ISO	RGD:1346901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8778922	Tmcc3	transmembrane and coiled-coil domain family 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8778922	Tmcc3	transmembrane and coiled-coil domain family 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8778942	Itpk1	inositol-tetrakisphosphate 1-kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8778942	Itpk1	inositol-tetrakisphosphate 1-kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8778942	Itpk1	inositol-tetrakisphosphate 1-kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8778942	Itpk1	inositol-tetrakisphosphate 1-kinase	gene	DOID:1909	melanoma		ISO	RGD:1312967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8778942	Itpk1	inositol-tetrakisphosphate 1-kinase	gene	DOID:3070	high grade glioma		ISO	RGD:1312967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8778942	Itpk1	inositol-tetrakisphosphate 1-kinase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8778942	Itpk1	inositol-tetrakisphosphate 1-kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778942	Itpk1	inositol-tetrakisphosphate 1-kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8778942	Itpk1	inositol-tetrakisphosphate 1-kinase	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1312967	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26213588
8778942	Itpk1	inositol-tetrakisphosphate 1-kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8778942	Itpk1	inositol-tetrakisphosphate 1-kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8778942	Itpk1	inositol-tetrakisphosphate 1-kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:0050735	X-linked monogenic disease		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: X-linked inheritance	PMID:25741868
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:0060249	scoliosis		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:0112018	non-syndromic X-linked intellectual disability 104		ISO	RGD:1353602	D	RGD:7240710	20190315	OMIM			
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:0112018	non-syndromic X-linked intellectual disability 104		ISO	RGD:1353602	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FRMPD4-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104	PMID:25741868|PMID:28492532|PMID:29758562
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:1059	intellectual disability		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:35887114
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:10907	microcephaly		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:11383	cryptorchidism		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:1143	exotropia		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:12849	autistic disorder		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 4 | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:26394714|PMID:35887114
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:1510	personality disorder		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Personality disorder	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:1826	epilepsy		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:2841	asthma		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:3070	high grade glioma		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:540	strabismus		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:5419	schizophrenia		ISO	RGD:1566031	D	RGD:9068941	20250501	RGD		protein:decreased expression:dorsolateral prefrontal cortex	PMID:25778620|REF_RGD_ID:11054158
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:630	genetic disease		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19118189|PMID:25741868
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:674	cleft palate		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:8927	learning disability		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9000495	Tremor		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9001031	Retrognathia		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9003133	Hypertelorism		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:35887114
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9003507	Premature Birth		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9003760	Myalgia		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1353602	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: X-linked complex neurodevelopmental disorder	PMID:25741868
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9009047	Laryngeal Cleft		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Laryngeal cleft	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:930	orbital disease		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868|PMID:35887114
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
8778957	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9834	hyperopia		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
8778983	Anln	anillin actin binding protein	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532|PMID:29869118
8778983	Anln	anillin actin binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8778983	Anln	anillin actin binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8778983	Anln	anillin actin binding protein	gene	DOID:0080600	COVID-19		ISO	RGD:1320339	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8778983	Anln	anillin actin binding protein	gene	DOID:0111133	focal segmental glomerulosclerosis 8		ISO	RGD:1320339	D	RGD:7240710	20180130	OMIM			
8778983	Anln	anillin actin binding protein	gene	DOID:0111133	focal segmental glomerulosclerosis 8		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ANLN-related condition | ClinVar Annotator: match by term: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8 | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8 | ClinVar Annotator: match by term: focal segmental glomerulosclerosis 8	PMID:24676636|PMID:25741868|PMID:26319989|PMID:28106320|PMID:28492532|PMID:29869118|PMID:30406062
8778983	Anln	anillin actin binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8778983	Anln	anillin actin binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8778983	Anln	anillin actin binding protein	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1320339	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8778983	Anln	anillin actin binding protein	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1320339	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:28492532
8778983	Anln	anillin actin binding protein	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1320339	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: focal segmental glomerulosclerosis	PMID:25741868
8778983	Anln	anillin actin binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8778983	Anln	anillin actin binding protein	gene	DOID:1596	depressive disorder		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532|PMID:29869118
8778983	Anln	anillin actin binding protein	gene	DOID:1909	melanoma		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8778983	Anln	anillin actin binding protein	gene	DOID:2030	anxiety disorder		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532|PMID:29869118
8778983	Anln	anillin actin binding protein	gene	DOID:2841	asthma		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532|PMID:29869118
8778983	Anln	anillin actin binding protein	gene	DOID:3275	thymoma		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8778983	Anln	anillin actin binding protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8778983	Anln	anillin actin binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8778983	Anln	anillin actin binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1320339	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8778983	Anln	anillin actin binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8778983	Anln	anillin actin binding protein	gene	DOID:630	genetic disease		ISO	RGD:1320339	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28106320
8778983	Anln	anillin actin binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320339	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8778983	Anln	anillin actin binding protein	gene	DOID:784	chronic kidney disease		ISO	RGD:1320339	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868|PMID:28492532
8778983	Anln	anillin actin binding protein	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532|PMID:29869118
8778983	Anln	anillin actin binding protein	gene	DOID:9003507	Premature Birth		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532|PMID:29869118
8778983	Anln	anillin actin binding protein	gene	DOID:9005077	Joint Instability		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532|PMID:29869118
8778983	Anln	anillin actin binding protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532|PMID:29869118
8778983	Anln	anillin actin binding protein	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532|PMID:29869118
8778983	Anln	anillin actin binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8778983	Anln	anillin actin binding protein	gene	DOID:9008023	Memory Disorders		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532|PMID:29869118
8778983	Anln	anillin actin binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8778983	Anln	anillin actin binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8778983	Anln	anillin actin binding protein	gene	DOID:9970	obesity		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532|PMID:29869118
8779020	Ndufa6	NADH:ubiquinone oxidoreductase subunit A6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8779020	Ndufa6	NADH:ubiquinone oxidoreductase subunit A6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779020	Ndufa6	NADH:ubiquinone oxidoreductase subunit A6	gene	DOID:0112097	nuclear type mitochondrial complex I deficiency 33		ISO	RGD:1320359	D	RGD:7240710	20190315	OMIM			
8779020	Ndufa6	NADH:ubiquinone oxidoreductase subunit A6	gene	DOID:0112097	nuclear type mitochondrial complex I deficiency 33		ISO	RGD:1320359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 33 | ClinVar Annotator: match by term: NDUFA6-related condition	PMID:25741868|PMID:28492532|PMID:30245030|PMID:30847515|PMID:33233646|PMID:39320038
8779020	Ndufa6	NADH:ubiquinone oxidoreductase subunit A6	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1320359	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood	PMID:26943237|REF_RGD_ID:11572212
8779020	Ndufa6	NADH:ubiquinone oxidoreductase subunit A6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8779020	Ndufa6	NADH:ubiquinone oxidoreductase subunit A6	gene	DOID:1909	melanoma		ISO	RGD:1320359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8779020	Ndufa6	NADH:ubiquinone oxidoreductase subunit A6	gene	DOID:4362	cervical cancer		ISO	RGD:1320359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8779020	Ndufa6	NADH:ubiquinone oxidoreductase subunit A6	gene	DOID:630	genetic disease		ISO	RGD:1320359	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:30245030|PMID:30847515
8779020	Ndufa6	NADH:ubiquinone oxidoreductase subunit A6	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1320359	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	PMID:30245030|PMID:30847515
8779020	Ndufa6	NADH:ubiquinone oxidoreductase subunit A6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8779085	Lox	lysyl oxidase	gene	DOID:10325	silicosis		ISO	RGD:736846	D	RGD:9068941	20241107	CTD		CTD Direct Evidence: marker/mechanism	PMID:38403151
8779085	Lox	lysyl oxidase	gene	DOID:10763	hypertension		ISO	RGD:3015	D	RGD:9068941	20200609	RGD			PMID:24127|REF_RGD_ID:1581899
8779085	Lox	lysyl oxidase	gene	DOID:10763	hypertension		ISO	RGD:736846	D	RGD:9068941	20200609	RGD			PMID:8562290|REF_RGD_ID:1581896
8779085	Lox	lysyl oxidase	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:736846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16023247
8779085	Lox	lysyl oxidase	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:736846	D	RGD:9068941	20200609	RGD			PMID:8638917|REF_RGD_ID:1581895
8779085	Lox	lysyl oxidase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736846	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:24033266|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:34281165
8779085	Lox	lysyl oxidase	gene	DOID:1838	Menkes disease		ISO	RGD:732343	D	RGD:9068941	20220825	MouseDO		OMIM:309400	
8779085	Lox	lysyl oxidase	gene	DOID:1838	Menkes disease		ISO	RGD:736846	D	RGD:9068941	20200609	RGD			PMID:8638917|REF_RGD_ID:1581895
8779085	Lox	lysyl oxidase	gene	DOID:1883	hepatitis C		ISO	RGD:736846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16023247
8779085	Lox	lysyl oxidase	gene	DOID:1928	Williams-Beuren syndrome		ISO	RGD:732343	D	RGD:9068941	20220825	MouseDO		OMIM:194050	
8779085	Lox	lysyl oxidase	gene	DOID:2043	hepatitis B		ISO	RGD:736846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16023247
8779085	Lox	lysyl oxidase	gene	DOID:234	colon adenocarcinoma	ameliorates	ISO	RGD:736846	D	RGD:9068941	20211112	RGD			PMID:21282564|REF_RGD_ID:150520218
8779085	Lox	lysyl oxidase	gene	DOID:2349	arteriosclerosis		ISO	RGD:3015	D	RGD:9068941	20200609	RGD			PMID:24127|REF_RGD_ID:1581899
8779085	Lox	lysyl oxidase	gene	DOID:3347	osteosarcoma		ISO	RGD:736846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23886186
8779085	Lox	lysyl oxidase	gene	DOID:3393	coronary artery disease		ISO	RGD:3015	D	RGD:9068941	20200609	RGD			PMID:12393934|REF_RGD_ID:1581886
8779085	Lox	lysyl oxidase	gene	DOID:3627	aortic aneurysm		ISO	RGD:732343	D	RGD:9068941	20200609	RGD			PMID:12417550|REF_RGD_ID:1581885
8779085	Lox	lysyl oxidase	gene	DOID:4247	coronary restenosis		ISO	RGD:3015	D	RGD:9068941	20200609	RGD			PMID:15218472|REF_RGD_ID:1581881
8779085	Lox	lysyl oxidase	gene	DOID:5082	liver cirrhosis		ISO	RGD:736846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26396155
8779085	Lox	lysyl oxidase	gene	DOID:57	aortic valve insufficiency		ISO	RGD:736846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21216836
8779085	Lox	lysyl oxidase	gene	DOID:5773	oral submucous fibrosis		ISO	RGD:736846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16311067
8779085	Lox	lysyl oxidase	gene	DOID:5844	myocardial infarction		ISO	RGD:732343	D	RGD:9068941	20200609	RGD			PMID:14553832|REF_RGD_ID:1581883
8779085	Lox	lysyl oxidase	gene	DOID:6432	pulmonary hypertension		ISO	RGD:736846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24614111
8779085	Lox	lysyl oxidase	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:3015	D	RGD:9068941	20200609	RGD			PMID:10965315|REF_RGD_ID:1581887
8779085	Lox	lysyl oxidase	gene	DOID:893	Wilson disease		ISO	RGD:736846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16023247
8779085	Lox	lysyl oxidase	gene	DOID:9000442	Familial Thoracic Aortic Aneurysm 10		ISO	RGD:736846	D	RGD:7240710	20190315	OMIM			
8779085	Lox	lysyl oxidase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8779085	Lox	lysyl oxidase	gene	DOID:9007023	Prenatal Injuries		ISO	RGD:736846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20045017
8779085	Lox	lysyl oxidase	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:736846	D	RGD:9068941	20211112	RGD			PMID:21282564|REF_RGD_ID:150520218
8779097	Rnf146	ring finger protein 146	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779097	Rnf146	ring finger protein 146	gene	DOID:10534	stomach cancer		ISO	RGD:1315124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8779097	Rnf146	ring finger protein 146	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1552458	D	RGD:9068941	20221020	MouseDO			
8779097	Rnf146	ring finger protein 146	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779097	Rnf146	ring finger protein 146	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8779097	Rnf146	ring finger protein 146	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:1306482	D	RGD:9068941	20200609	RGD			PMID:28108258|REF_RGD_ID:13524865
8779129	Hdlbp	high density lipoprotein binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779129	Hdlbp	high density lipoprotein binding protein	gene	DOID:0080600	COVID-19		ISO	RGD:732166	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8779129	Hdlbp	high density lipoprotein binding protein	gene	DOID:0111704	chromosome 2q37 deletion syndrome		ISO	RGD:732166	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:19365831
8779129	Hdlbp	high density lipoprotein binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8779129	Hdlbp	high density lipoprotein binding protein	gene	DOID:1115	sarcoma		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8779129	Hdlbp	high density lipoprotein binding protein	gene	DOID:12849	autistic disorder		ISO	RGD:732166	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19365831
8779129	Hdlbp	high density lipoprotein binding protein	gene	DOID:1324	lung cancer		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8779129	Hdlbp	high density lipoprotein binding protein	gene	DOID:1909	melanoma		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8779129	Hdlbp	high density lipoprotein binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8779129	Hdlbp	high density lipoprotein binding protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8779129	Hdlbp	high density lipoprotein binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8779129	Hdlbp	high density lipoprotein binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8779129	Hdlbp	high density lipoprotein binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:732166	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8779129	Hdlbp	high density lipoprotein binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779129	Hdlbp	high density lipoprotein binding protein	gene	DOID:6039	uveal melanoma		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8779129	Hdlbp	high density lipoprotein binding protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8779129	Hdlbp	high density lipoprotein binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8779129	Hdlbp	high density lipoprotein binding protein	gene	DOID:9000793	Fine-Lubinsky Syndrome		ISO	RGD:732166	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Fine-Lubinsky Syndrome	PMID:25741868
8779129	Hdlbp	high density lipoprotein binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8779129	Hdlbp	high density lipoprotein binding protein	gene	DOID:9008192	Neoplastic Processes		ISO	RGD:732166	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25129143
8779129	Hdlbp	high density lipoprotein binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8779129	Hdlbp	high density lipoprotein binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8779170	Gata3	GATA binding protein 3	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437031
8779170	Gata3	GATA binding protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779170	Gata3	GATA binding protein 3	gene	DOID:0060180	colitis	treatment	ISO	RGD:621250	D	RGD:9068941	20250925	RGD			PMID:26306417|REF_RGD_ID:628359043
8779170	Gata3	GATA binding protein 3	gene	DOID:0060230	basal ganglia calcification		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Basal ganglia calcification	PMID:14985365|PMID:19057839|PMID:21242646|PMID:25741868|PMID:28492532
8779170	Gata3	GATA binding protein 3	gene	DOID:0060878	hypoparathyroidism-deafness-renal disease syndrome		ISO	RGD:733638	D	RGD:7240710	20180130	OMIM			
8779170	Gata3	GATA binding protein 3	gene	DOID:0060878	hypoparathyroidism-deafness-renal disease syndrome		ISO	RGD:733638	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome	PMID:10935639|PMID:11389161|PMID:14985365|PMID:15705923|PMID:16199547|PMID:16509533|PMID:16912130|PMID:17210674|PMID:18621058|PMID:19057839|PMID:21120445|PMID:21242646|PMID:23142663|PMID:23435732|PMID:24033266|PMID:24429398|PMID:25137426|PMID:25741868|PMID:26282285|PMID:26316437|PMID:26467025|PMID:26514990|PMID:27387476|PMID:28492532|PMID:29663634|PMID:30311386|PMID:30534854|PMID:31433868|PMID:32442337|PMID:35101336|PMID:36549658|PMID:36703223|PMID:37095353|PMID:39252126|PMID:40794449
8779170	Gata3	GATA binding protein 3	gene	DOID:0080146	childhood B-cell acute lymphoblastic leukemia		ISO	RGD:733638	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: B-cell childhood acute lymphoblastic leukemia	PMID:23996088|PMID:24141364|PMID:24203929|PMID:25468567|PMID:30859636
8779170	Gata3	GATA binding protein 3	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
8779170	Gata3	GATA binding protein 3	gene	DOID:0080600	COVID-19		ISO	RGD:733638	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8779170	Gata3	GATA binding protein 3	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24141364
8779170	Gata3	GATA binding protein 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
8779170	Gata3	GATA binding protein 3	gene	DOID:1059	intellectual disability		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868
8779170	Gata3	GATA binding protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8779170	Gata3	GATA binding protein 3	gene	DOID:11199	hypoparathyroidism		ISO	RGD:733638	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypoparathyroidism	PMID:25741868
8779170	Gata3	GATA binding protein 3	gene	DOID:12849	autistic disorder		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
8779170	Gata3	GATA binding protein 3	gene	DOID:1324	lung cancer		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8779170	Gata3	GATA binding protein 3	gene	DOID:13543	hyperparathyroidism		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperparathyroidism	PMID:14985365|PMID:21120445|PMID:21242646|PMID:25741868|PMID:28492532
8779170	Gata3	GATA binding protein 3	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:23435732|PMID:27588951|PMID:29535312|PMID:32232341|PMID:35101336
8779170	Gata3	GATA binding protein 3	gene	DOID:1824	status epilepticus		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:14985365|PMID:19057839|PMID:21242646|PMID:25741868|PMID:28492532
8779170	Gata3	GATA binding protein 3	gene	DOID:2237	hepatitis		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hepatitis	
8779170	Gata3	GATA binding protein 3	gene	DOID:2527	nephrosis		ISO	RGD:733638	D	RGD:9068941	20200609	RGD		HDR Syndrome/Barakat Syndrome, OMIM:146255    DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957	PMID:10935639|REF_RGD_ID:1358706
8779170	Gata3	GATA binding protein 3	gene	DOID:2841	asthma		ISO	RGD:733638	D	RGD:9068941	20200609	RGD			PMID:9949310|REF_RGD_ID:5128802
8779170	Gata3	GATA binding protein 3	gene	DOID:2841	asthma	severity	ISO	RGD:733638	D	RGD:9068941	20251204	RGD			PMID:27079298|REF_RGD_ID:629107239
8779170	Gata3	GATA binding protein 3	gene	DOID:2841	asthma	treatment	ISO	RGD:621250	D	RGD:9068941	20250925	RGD			PMID:16635408|PMID:18186587|REF_RGD_ID:5128803|REF_RGD_ID:628359045
8779170	Gata3	GATA binding protein 3	gene	DOID:305	carcinoma		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8779170	Gata3	GATA binding protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8779170	Gata3	GATA binding protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779170	Gata3	GATA binding protein 3	gene	DOID:630	genetic disease		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8779170	Gata3	GATA binding protein 3	gene	DOID:6364	migraine		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	
8779170	Gata3	GATA binding protein 3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143596
8779170	Gata3	GATA binding protein 3	gene	DOID:7188	autoimmune thyroiditis	treatment	ISO	RGD:621250	D	RGD:9068941	20250920	RGD			PMID:26523790|REF_RGD_ID:628359025
8779170	Gata3	GATA binding protein 3	gene	DOID:769	neuroblastoma		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30127528
8779170	Gata3	GATA binding protein 3	gene	DOID:783	end stage renal disease		ISO	RGD:733638	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:25741868
8779170	Gata3	GATA binding protein 3	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21037568
8779170	Gata3	GATA binding protein 3	gene	DOID:9000156	Metaplasia		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27315767
8779170	Gata3	GATA binding protein 3	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8779170	Gata3	GATA binding protein 3	gene	DOID:9000445	Azotemia		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Azotemia	PMID:25741868
8779170	Gata3	GATA binding protein 3	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:621250	D	RGD:9068941	20200609	RGD			PMID:20118299|REF_RGD_ID:5128801
8779170	Gata3	GATA binding protein 3	gene	DOID:9001371	Eosinophilia		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27315767
8779170	Gata3	GATA binding protein 3	gene	DOID:9002605	Delayed Hypersensitivity		ISO	RGD:621250	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:spleen	PMID:16336837|REF_RGD_ID:2314191
8779170	Gata3	GATA binding protein 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:733638	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8779170	Gata3	GATA binding protein 3	gene	DOID:9004484	Sepsis	severity	ISO	RGD:733638	D	RGD:9068941	20200806	RGD			PMID:25403265|REF_RGD_ID:38455982
8779170	Gata3	GATA binding protein 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:733638	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532|PMID:30311386
8779170	Gata3	GATA binding protein 3	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8779170	Gata3	GATA binding protein 3	gene	DOID:9005372	Inflammation		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22325453
8779170	Gata3	GATA binding protein 3	gene	DOID:9005936	Gastro-Enteropancreatic Neuroendocrine Tumor		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915428
8779170	Gata3	GATA binding protein 3	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
8779170	Gata3	GATA binding protein 3	gene	DOID:9007402	Gliosis		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gliosis	
8779170	Gata3	GATA binding protein 3	gene	DOID:9007661	Dwarfism		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8779170	Gata3	GATA binding protein 3	gene	DOID:9007702	Carcinogenesis		ISO	RGD:733638	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:35115686
8779170	Gata3	GATA binding protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:35101336
8779170	Gata3	GATA binding protein 3	gene	DOID:9009050	Hypocalcemia		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	PMID:14985365|PMID:19057839|PMID:21242646|PMID:25741868|PMID:28492532
8779170	Gata3	GATA binding protein 3	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:733638	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:35115686
8779191	Znf524	zinc finger protein 524	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8779191	Znf524	zinc finger protein 524	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8779196	Kcnn1	potassium calcium-activated channel subfamily N member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779196	Kcnn1	potassium calcium-activated channel subfamily N member 1	gene	DOID:10534	stomach cancer		ISO	RGD:731634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8779196	Kcnn1	potassium calcium-activated channel subfamily N member 1	gene	DOID:1115	sarcoma		ISO	RGD:731634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8779196	Kcnn1	potassium calcium-activated channel subfamily N member 1	gene	DOID:1324	lung cancer		ISO	RGD:731634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8779196	Kcnn1	potassium calcium-activated channel subfamily N member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779196	Kcnn1	potassium calcium-activated channel subfamily N member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8779241	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8779241	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779241	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:0060058	lymphoma		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8779241	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:1115	sarcoma		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8779241	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:1324	lung cancer		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8779241	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:3275	thymoma		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8779241	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8779241	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8779241	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605889	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8779241	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779241	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8779241	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8779241	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8779241	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8779289	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8779289	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779289	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:0050946	Charlevoix-Saguenay spastic ataxia		ISO	RGD:1320022	D	RGD:9068941	20220825	MouseDO		OMIM:270550	
8779289	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8779289	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8779289	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1320021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8779289	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1320021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8779289	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1320021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8779289	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8779289	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320021	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8779289	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8779289	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779289	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8779319	Pcsk4	proprotein convertase subtilisin/kexin type 4	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1345180	D	RGD:9068941	20220513	RGD		DNA:SNP:3'utr: (rs1047854) C>T (human)	PMID:27354594|REF_RGD_ID:152177496
8779319	Pcsk4	proprotein convertase subtilisin/kexin type 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779319	Pcsk4	proprotein convertase subtilisin/kexin type 4	gene	DOID:1324	lung cancer		ISO	RGD:1345180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8779319	Pcsk4	proprotein convertase subtilisin/kexin type 4	gene	DOID:1909	melanoma		ISO	RGD:1345180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8779319	Pcsk4	proprotein convertase subtilisin/kexin type 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1345180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8779319	Pcsk4	proprotein convertase subtilisin/kexin type 4	gene	DOID:4362	cervical cancer		ISO	RGD:1345180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8779319	Pcsk4	proprotein convertase subtilisin/kexin type 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8779319	Pcsk4	proprotein convertase subtilisin/kexin type 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779319	Pcsk4	proprotein convertase subtilisin/kexin type 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8779337	Acvr1c	activin A receptor type 1C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8779337	Acvr1c	activin A receptor type 1C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779337	Acvr1c	activin A receptor type 1C	gene	DOID:10534	stomach cancer		ISO	RGD:734123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8779337	Acvr1c	activin A receptor type 1C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8779337	Acvr1c	activin A receptor type 1C	gene	DOID:8466	retinal degeneration		ISO	RGD:621789	D	RGD:9068941	20230525	RGD		associated with hyperaldosterone; mRNA:decreased expression:retina (rat)	PMID:29713904|REF_RGD_ID:152025547
8779337	Acvr1c	activin A receptor type 1C	gene	DOID:9004745	RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES		ISO	RGD:621789	D	RGD:9068941	20230525	RGD		associated with hyperaldosterone; mRNA:decreased expression:retina (rat)	PMID:29713904|REF_RGD_ID:152025547
8779337	Acvr1c	activin A receptor type 1C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8779353	Mreg	melanoregulin	gene	DOID:1115	sarcoma		ISO	RGD:1604338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8779353	Mreg	melanoregulin	gene	DOID:4362	cervical cancer		ISO	RGD:1604338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8779353	Mreg	melanoregulin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779353	Mreg	melanoregulin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8779353	Mreg	melanoregulin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8779353	Mreg	melanoregulin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8779353	Mreg	melanoregulin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8779362	Fancd2os	FANCD2 opposite strand	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779362	Fancd2os	FANCD2 opposite strand	gene	DOID:0111083	Fanconi anemia complementation group D2		ISO	RGD:1603367	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group D2	PMID:11239453|PMID:16199547|PMID:16280053|PMID:17436244|PMID:17576681|PMID:23285130|PMID:23613520|PMID:24728327|PMID:25741868|PMID:25927356|PMID:28492532|PMID:29625052|PMID:30256826|PMID:31586946|PMID:32546565|PMID:32581362|PMID:34308104|PMID:34585473|PMID:36463940|PMID:9536098
8779362	Fancd2os	FANCD2 opposite strand	gene	DOID:13636	Fanconi anemia		ISO	RGD:1603367	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:11239453|PMID:16199547|PMID:16280053|PMID:17436244|PMID:17576681|PMID:23285130|PMID:24728327|PMID:25741868|PMID:25927356|PMID:27041517|PMID:28492532|PMID:29625052|PMID:30250602|PMID:30256826|PMID:31586946|PMID:32546565|PMID:33270637|PMID:34308104|PMID:34585473|PMID:36463940|PMID:36622392|PMID:9536098
8779362	Fancd2os	FANCD2 opposite strand	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:11543633|RGD:11551143|RGD:12889512|RGD:152031749	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532
8779362	Fancd2os	FANCD2 opposite strand	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:11544933|RGD:11550818|RGD:11586851|RGD:11591078|RGD:150546128|RGD:152031735|RGD:152031738|RGD:152031742|RGD:152031745|RGD:152031753	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
8779362	Fancd2os	FANCD2 opposite strand	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:11544933|RGD:11550818|RGD:11586851|RGD:11591078|RGD:150546128|RGD:152031735|RGD:152031738|RGD:152031742|RGD:152031745|RGD:152031753|RGD:152031755	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:0014667	disease of metabolism		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19589179
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:0050440	familial partial lipodystrophy		ISO	RGD:69168	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial partial lipodystrophy	PMID:21479595|PMID:25741868|PMID:28492532|PMID:28641778|PMID:32041611|PMID:33502018|PMID:34991302|PMID:36397776
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:0050850	diabetic encephalopathy	treatment	ISO	RGD:3371	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:24291733|REF_RGD_ID:8553040
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:0050851	glomerulosclerosis	treatment	ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:11318962|REF_RGD_ID:8553043
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:69168	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:32929351
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:0060611	abdominal obesity-metabolic syndrome		ISO	RGD:69169	D	RGD:9068941	20220825	MouseDO			
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:0070204	familial partial lipodystrophy type 3		ISO	RGD:69168	D	RGD:7240710	20180912	OMIM			
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:0070204	familial partial lipodystrophy type 3		ISO	RGD:69168	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS | ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 | ClinVar Annotator: match by term: Lipodystrophy, familial partial, type 3 | ClinVar Annotator: match by term: PPARG-related familial partial lipodystrophy	PMID:10523018|PMID:10622252|PMID:12453919|PMID:12663460|PMID:14671186|PMID:15254591|PMID:17003330|PMID:21479595|PMID:22461176|PMID:22539598|PMID:25157153|PMID:25741868|PMID:27749844|PMID:28492532|PMID:28641778|PMID:32041611|PMID:33502018|PMID:34991302|PMID:35101336|PMID:36325899|PMID:36397776|PMID:38951919|PMID:9467001|PMID:9753710|PMID:9792554
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:69168	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:35654975
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:0080322	polycystic kidney disease	treatment	ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:21147840|REF_RGD_ID:14701037
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:0080600	COVID-19		ISO	RGD:69168	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:0081120	Graves ophthalmopathy		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		mRNA:increased expression:orbital fat (human)	PMID:14588098|REF_RGD_ID:8552818
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17255338
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:69168	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10622252|PMID:11788685|PMID:16412238|PMID:17312272|PMID:21479595|PMID:25157153|PMID:25741868|PMID:28492532|PMID:28641778|PMID:32041611|PMID:33502018|PMID:34991302|PMID:36397776|PMID:9753710
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:0111136	congenital generalized lipodystrophy type 2		ISO	RGD:69169	D	RGD:9068941	20220825	MouseDO		OMIM:269700	
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:10534	stomach cancer		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:10591	pre-eclampsia		ISO	RGD:69168	D	RGD:9068941	20200609	RGD			PMID:15562025|REF_RGD_ID:1580687
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:10591	pre-eclampsia		ISO	RGD:69168	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:34995009
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:10652	Alzheimer's disease		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15993441|PMID:16407166|PMID:30328325
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple (human)	PMID:18573313|REF_RGD_ID:2301852
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:p.P12A(human)	PMID:17440948|REF_RGD_ID:2311642
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:1074	kidney failure		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28182703
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:10763	hypertension		ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:15970297|PMID:18437150|REF_RGD_ID:1580684|REF_RGD_ID:2301888
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:10763	hypertension		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		protein:decreased expression:rostral ventrolateral medulla (rat)	PMID:20404217|REF_RGD_ID:7175297
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:10763	hypertension		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15199296|PMID:19666838|PMID:27292124
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:10763	hypertension		ISO	RGD:69168	D	RGD:9068941	20200609	RGD			PMID:12923396|REF_RGD_ID:1580690
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:10763	hypertension		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:18316027|REF_RGD_ID:2301864
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:11382	corneal neovascularization	treatment	ISO	RGD:69169	D	RGD:9068941	20200609	RGD			PMID:17625041|REF_RGD_ID:8552895
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:11613	hyperandrogenism		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:ovary follicle (rat)	PMID:20813360|REF_RGD_ID:8553031
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:21479595|PMID:25741868|PMID:28492532|PMID:28641778|PMID:32041611|PMID:33502018|PMID:34991302|PMID:36397776
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:11981	morbid obesity		ISO	RGD:69168	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Morbid obesity	PMID:25157153|PMID:25741868|PMID:28492532|PMID:9753710
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:1287	cardiovascular system disease	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		associated with Diabetic Nephropathies; DNA:polymorphisms:exon:161C>T, p.P12A (human)	PMID:18417957|REF_RGD_ID:2301860
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:12935	alcoholic cardiomyopathy		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		protein:increased expression:heart myocardium	PMID:18783396|REF_RGD_ID:2301868
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:12986	leukostasis		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12468449
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:13207	proliferative diabetic retinopathy	onset	ISO	RGD:69168	D	RGD:9068941	20200609	RGD			PMID:18541841|REF_RGD_ID:2301854
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:13207	proliferative diabetic retinopathy	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.P12A (rs1801282) (human)	PMID:23559865|REF_RGD_ID:8552820
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:13207	proliferative diabetic retinopathy	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:c.-2819A>G (human)	PMID:19125195|REF_RGD_ID:8699508
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:69169	D	RGD:9068941	20220825	MouseDO		OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344	
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:30651555|PMID:35101336
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:1520	colon carcinoma		ISO	RGD:69168	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon	PMID:25741868
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:1561	cognitive disorder	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P12A (human)	PMID:18639367|REF_RGD_ID:2301850
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:1793	pancreatic cancer		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:11034103|PMID:11741176
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:1793	pancreatic cancer		ISO	RGD:69168	D	RGD:9068941	20200609	RGD			PMID:19152448|REF_RGD_ID:2317462
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.P12A (human)	PMID:19436234|REF_RGD_ID:2317460
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:1909	melanoma		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:14512786|PMID:28962521
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:1936	atherosclerosis		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18269830
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:1936	atherosclerosis		ISO	RGD:69169	D	RGD:9068941	20200609	RGD		protein:increased expression:aortic sinus, endothelium (mouse)	PMID:15779851|REF_RGD_ID:8552894
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:219	colon cancer		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation:c.472delA (human)	PMID:10394368|REF_RGD_ID:1601444
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:18378216|PMID:18973594|PMID:19221220|REF_RGD_ID:2301866|REF_RGD_ID:2301892|REF_RGD_ID:8553032
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:2349	arteriosclerosis	treatment	ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:15967870|REF_RGD_ID:8553041
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:2921	glomerulonephritis		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11318962
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:2988	antiphospholipid syndrome		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28182703
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:299	adenocarcinoma		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11034103
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:3021	acute kidney failure		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:20623750|PMID:24011919|PMID:24433871
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:17494862|REF_RGD_ID:8553020
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:326	ischemia		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12468449|PMID:24433871
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:3393	coronary artery disease		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		protein:decreased expression:carotid artery, macrophage, smooth muscle cell (human)	PMID:21709632|REF_RGD_ID:8552814
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:3407	carotid artery disease		ISO	RGD:69168	D	RGD:9068941	20200609	RGD			PMID:15284449|REF_RGD_ID:1580688
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:3587	pancreatic ductal carcinoma	disease_progression	ISO	RGD:69168	D	RGD:9068941	20200609	RGD			PMID:19396032|REF_RGD_ID:2317461
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:3946	pituitary-dependent Cushing's disease		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16809932
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:4989	pancreatitis		ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:18583255|REF_RGD_ID:2301875
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:6000	congestive heart failure		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26670611
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:630	genetic disease		ISO	RGD:69168	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16374840
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:27451128|REF_RGD_ID:14694822
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:783	end stage renal disease	disease_progression	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP: :p.P12A (human)	PMID:18467141|REF_RGD_ID:2301857
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:811	lipodystrophy		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lipodystrophy | ClinVar Annotator: match by term: lipodystrophy	PMID:10622252|PMID:12663460|PMID:15254591|PMID:17003330|PMID:22461176|PMID:22539598|PMID:25157153|PMID:25741868|PMID:28492532|PMID:36325899
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:8398	osteoarthritis		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17568789
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:8778	Crohn's disease		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21829567
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:8893	psoriasis		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10815854
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:8947	diabetic retinopathy		ISO	RGD:69169	D	RGD:9068941	20200609	RGD		Retinal Leukostasis;associated with Diabetes Mellitus, Experimental	PMID:17003451|REF_RGD_ID:8552824
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20210794
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		associated with Cholangiocarcinoma;protein:increased expression:bile duct epithelium	PMID:20021832|REF_RGD_ID:2317459
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9000173	Eye Burns		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		protein:increased expression:cornea, neutrophil, macrophage (rat)	PMID:24194635|REF_RGD_ID:8552904
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15492468|PMID:19140230
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29162556
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9000641	Pain		ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:18387855|REF_RGD_ID:2301890
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9000784	Fibrosis		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:18360056|REF_RGD_ID:2301893
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9000784	Fibrosis		ISO	RGD:69169	D	RGD:9068941	20200609	RGD			PMID:18511847|REF_RGD_ID:2301856
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:3371	D	RGD:9068941	20230720	RGD		associated with hypertension, periodontal disease	PMID:33364953|REF_RGD_ID:329956421
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9001276	Failure to Thrive		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:18594976|REF_RGD_ID:2301874
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:22529699|REF_RGD_ID:8553190
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9002055	Chronic Allograft Nephropathy		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney:	PMID:16221712|REF_RGD_ID:13208600
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:18388116|REF_RGD_ID:2301862
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28182703
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69169	D	RGD:9068941	20200609	RGD			PMID:18780770|REF_RGD_ID:2301845
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung (rat)	PMID:21425435|REF_RGD_ID:8552971
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9002311	Experimental Autoimmune Myocarditis		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		protein:increased expression:myocardium (rat)	PMID:15167281|REF_RGD_ID:8553039
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9002909	Oxygen-Induced Retinopathy		ISO	RGD:69169	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina (mouse)	PMID:18806296|REF_RGD_ID:2301844
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20540935
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18289512
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9003370	Dyslipidemias		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16168052
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9003657	Perennial Allergic Rhinitis		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:nasal mucosa (human)	PMID:17116814|REF_RGD_ID:8552811
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12468449|PMID:24011919|PMID:24433871
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15785241
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung (rat)	PMID:16083301|REF_RGD_ID:8553030
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21153920
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:18360056|REF_RGD_ID:2301893
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9004980	Chronobiology Disorders		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22899986
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9005372	Inflammation		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		associated with Brain Injuries	PMID:18479673|REF_RGD_ID:2301881
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9005372	Inflammation		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		associated with Status Epilepticus	PMID:18455351|REF_RGD_ID:2301886
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9005372	Inflammation		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:19926821|PMID:21354099
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		mRNA:altered expression:aorta, kidney cortex, retina	PMID:18641696|REF_RGD_ID:2301849
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12967931|PMID:16123366|PMID:21757225
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69169	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina	PMID:18806296|REF_RGD_ID:2301844
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9005782	Carotid Intimal Medial Thickness 1		ISO	RGD:69168	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY	PMID:25157153|PMID:25741868|PMID:28492532|PMID:9753710
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9005930	Endotoxemia		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		protein:increased expression:small intestine mucosa	PMID:21641970|REF_RGD_ID:5135029
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9006182	Carotid Artery Injuries	treatment	ISO	RGD:69169	D	RGD:9068941	20200609	RGD		mouse gene in a rat model	PMID:19339015|REF_RGD_ID:8553019
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9006447	Eye Injuries	treatment	ISO	RGD:69169	D	RGD:9068941	20200609	RGD			PMID:18658087|REF_RGD_ID:8552893
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9006494	Follicular Thyroid Cancer		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15785241
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertriglyceridemia	PMID:21479595|PMID:25741868|PMID:28492532|PMID:28641778|PMID:32041611|PMID:33502018|PMID:34991302|PMID:36397776
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:16183630|REF_RGD_ID:1580683
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:69168	D	RGD:9068941	20200609	RGD			PMID:16186413|REF_RGD_ID:1580686
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:69169	D	RGD:9068941	20231026	RGD			PMID:31353547|REF_RGD_ID:401850595
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9006646	Metabolic Syndrome	no_association	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:SNP: :p.P12A (human)	PMID:18959602|REF_RGD_ID:2301843
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20143881
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:69169	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver	PMID:26599535|REF_RGD_ID:11554658
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9007692	Insulin Resistance		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16168052|PMID:21354099|PMID:21484566
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9007692	Insulin Resistance		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation	PMID:12118251|REF_RGD_ID:1601446
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:69169	D	RGD:9068941	20200609	RGD			PMID:18562925|REF_RGD_ID:2301853
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16489531
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:69169	D	RGD:9068941	20220825	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9206	Barrett's esophagus		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15387324
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9351	diabetes mellitus		ISO	RGD:69168	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes | ClinVar Annotator: match by term: diabetes	PMID:19748282|PMID:25741868|PMID:27749844|PMID:28492532
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69168	D	RGD:7240710	20180130	OMIM			
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69168	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:22461176|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69168	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10381354|PMID:10523018|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69168	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10622252|PMID:11788685|PMID:16412238|PMID:17312272|PMID:21479595|PMID:25157153|PMID:25741868|PMID:28492532|PMID:28641778|PMID:32041611|PMID:33502018|PMID:34991302|PMID:36397776|PMID:9753710
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.P12A (human)	PMID:9918859|REF_RGD_ID:8552822
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.P12A (human)	PMID:18598350|REF_RGD_ID:2301851
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9452	steatotic liver disease		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:21479595|PMID:25741868|PMID:28492532|PMID:28641778|PMID:32041611|PMID:33502018|PMID:34991302|PMID:36397776
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:3371	D	RGD:9068941	20240201	RGD			PMID:30298849|REF_RGD_ID:401960083
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9455	lipid storage disease		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21123845
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9970	obesity		ISO	RGD:69168	D	RGD:7240710	20180130	OMIM			
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9970	obesity		ISO	RGD:69168	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency	PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:22461176|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9970	obesity		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity disorder	PMID:10381354|PMID:10523018|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:25157153|PMID:25741868|PMID:28492532|PMID:36325899|PMID:9467001|PMID:9753710|PMID:9792554
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9970	obesity		ISO	RGD:69168	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity disorder	PMID:10523018|PMID:14671186|PMID:25157153|PMID:25741868|PMID:28492532|PMID:36325899|PMID:9467001|PMID:9753710|PMID:9792554
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9970	obesity	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:18683148|REF_RGD_ID:2301847
8779373	Pparg	peroxisome proliferator activated receptor gamma	gene	DOID:9970	obesity	treatment	ISO	RGD:3371	D	RGD:9068941	20240201	RGD			PMID:30298849|REF_RGD_ID:401960083
8779392	Gosr2	golgi SNAP receptor complex member 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:731739	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
8779392	Gosr2	golgi SNAP receptor complex member 2	gene	DOID:0111449	progressive myoclonus epilepsy 6		ISO	RGD:731739	D	RGD:7240710	20180130	OMIM			
8779392	Gosr2	golgi SNAP receptor complex member 2	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:731739	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy	PMID:16199547|PMID:17576681|PMID:19057520|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29855340|PMID:33639315|PMID:9536098
8779392	Gosr2	golgi SNAP receptor complex member 2	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:731739	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Progressive myoclonic epilepsy	PMID:16199547|PMID:17576681|PMID:19057520|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28982678|PMID:29855340|PMID:30363482|PMID:33639315|PMID:9536098
8779392	Gosr2	golgi SNAP receptor complex member 2	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:731739	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Progressive myoclonic epilepsy	PMID:28492532
8779392	Gosr2	golgi SNAP receptor complex member 2	gene	DOID:9003754	MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES		ISO	RGD:731739	D	RGD:7240710	20230301	OMIM			
8779405	Snx7	sorting nexin 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8779405	Snx7	sorting nexin 7	gene	DOID:10534	stomach cancer		ISO	RGD:1313530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8779405	Snx7	sorting nexin 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8779405	Snx7	sorting nexin 7	gene	DOID:1115	sarcoma		ISO	RGD:1313530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8779405	Snx7	sorting nexin 7	gene	DOID:1324	lung cancer		ISO	RGD:1313530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
8779405	Snx7	sorting nexin 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8779405	Snx7	sorting nexin 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1313530	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8779405	Snx7	sorting nexin 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8779405	Snx7	sorting nexin 7	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313530	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8779405	Snx7	sorting nexin 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8779454	Garem1	GRB2 associated regulator of MAPK1 subtype 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779454	Garem1	GRB2 associated regulator of MAPK1 subtype 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8779454	Garem1	GRB2 associated regulator of MAPK1 subtype 1	gene	DOID:1115	sarcoma		ISO	RGD:1342843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8779454	Garem1	GRB2 associated regulator of MAPK1 subtype 1	gene	DOID:4362	cervical cancer		ISO	RGD:1342843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8779454	Garem1	GRB2 associated regulator of MAPK1 subtype 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8779454	Garem1	GRB2 associated regulator of MAPK1 subtype 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779454	Garem1	GRB2 associated regulator of MAPK1 subtype 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8779454	Garem1	GRB2 associated regulator of MAPK1 subtype 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8779454	Garem1	GRB2 associated regulator of MAPK1 subtype 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:0050868	hepatocellular adenoma		ISO	RGD:2004	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver:	PMID:15509519|REF_RGD_ID:1358261
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:0050868	hepatocellular adenoma		ISO	RGD:735738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15509519
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:0080600	COVID-19		ISO	RGD:735738	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:0080600	COVID-19	severity	ISO	RGD:735738	D	RGD:9068941	20200813	RGD		DNA:SNPs: :	PMID:32747830|REF_RGD_ID:38500238
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:10113	trypanosomiasis		ISO	RGD:2004	D	RGD:9068941	20200609	RGD			PMID:17722867|REF_RGD_ID:10046041
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735738	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:15023809|PMID:9697696|PMID:9811940
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735738	D	RGD:9068941	20250724	RGD		DNA:deletion, polymorphisms, haplotypes: :multiple	PMID:12966032|REF_RGD_ID:10046016
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735738	D	RGD:9068941	20250724	RGD		DNA:deletion:splice junction:	PMID:9697696|REF_RGD_ID:1302534
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735738	D	RGD:9068941	20250724	RGD		DNA:insertion/deletion, substitution	PMID:14675603|REF_RGD_ID:10046012
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:735738	D	RGD:9068941	20200609	RGD			PMID:10319853|REF_RGD_ID:1300322
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:735738	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.I1000V (human)	PMID:10936700|REF_RGD_ID:10046015
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:735738	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :multiple	PMID:12966032|REF_RGD_ID:10046016
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:735738	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.I1000V (human)	PMID:12133586|REF_RGD_ID:10046014
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:10754	otitis media	treatment	IEP		D	RGD:11553864|PMID:2473673	20161014	RGD			
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:10754	otitis media	treatment	IEP		D	RGD:11553918|PMID:2459981	20161017	RGD			
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:10976	membranous glomerulonephritis		ISO	RGD:2004	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:9453001|REF_RGD_ID:10046046
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:114	heart disease		ISO	RGD:735738	D	RGD:9068941	20200609	RGD		associated with HIV Infections;protein:increased expression:serum	PMID:20005173|REF_RGD_ID:10046031
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:11506	suppurative otitis media		IEP		D	RGD:11556250|PMID:1696441	20161101	RGD			
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:1184	nephrotic syndrome		ISO	RGD:2004	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:9453001|REF_RGD_ID:10046046
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:1184	nephrotic syndrome		ISO	RGD:735738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11304663
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:13208	background diabetic retinopathy	treatment	ISO	RGD:735738	D	RGD:9068941	20200609	RGD			PMID:10848441|REF_RGD_ID:10046010
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:14115	toxic shock syndrome	treatment	ISO	RGD:2004	D	RGD:9068941	20200609	RGD			PMID:2424486|REF_RGD_ID:10046036
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:14330	Parkinson's disease	onset	ISO	RGD:735738	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.I1000V (human)	PMID:12133586|REF_RGD_ID:10046014
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:2320	obstructive lung disease		ISO	RGD:735738	D	RGD:9068941	20200609	RGD			PMID:2475424|REF_RGD_ID:1300321
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:2377	multiple sclerosis		ISO	RGD:735738	D	RGD:9068941	20200609	RGD			PMID:11498265|REF_RGD_ID:1549857
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:3021	acute kidney failure		ISO	RGD:735738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23052191
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:3526	cerebral infarction	disease_progression	ISO	RGD:735738	D	RGD:9068941	20200609	RGD			PMID:28266892|REF_RGD_ID:13702087
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:5082	liver cirrhosis		ISO	RGD:735738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26396155
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:583	hemolytic anemia		ISO	RGD:2004	D	RGD:9068941	20200609	RGD			PMID:11952820|REF_RGD_ID:704364
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2004	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver:	PMID:15509519|REF_RGD_ID:1358261
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15509519
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:8283	peritonitis		ISO	RGD:2004	D	RGD:9068941	20200609	RGD			PMID:16538883|REF_RGD_ID:1598512
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:850	lung disease		ISO	RGD:735738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2475424
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:893	Wilson disease		ISO	RGD:735738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23519153
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:9000972	Fever		ISO	RGD:2004	D	RGD:9068941	20200609	RGD			PMID:2460123|REF_RGD_ID:10046042
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2004	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:6163339|REF_RGD_ID:10046032
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:2004	D	RGD:9068941	20200609	RGD			PMID:1710603|REF_RGD_ID:10046021
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:735738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:9003049	Femur Head Necrosis		ISO	RGD:2004	D	RGD:9068941	20200609	RGD		mRNA:increased expression:head of femur	PMID:20579363|REF_RGD_ID:10046018
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:9003936	Cardiomegaly		ISO	RGD:2004	D	RGD:9068941	20200609	RGD			PMID:12494268|REF_RGD_ID:1549856
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:9004484	Sepsis		ISO	RGD:2004	D	RGD:9068941	20200609	RGD			PMID:9843780|REF_RGD_ID:1598509
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:9004484	Sepsis		ISO	RGD:2004	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:15167684|REF_RGD_ID:10046033
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:735738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17902193|PMID:19180532
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:9005372	Inflammation		ISO	RGD:2004	D	RGD:9068941	20200609	RGD			PMID:6202298|REF_RGD_ID:10046045
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:9006945	Diabetic Cardiomyopathies	treatment	ISO	RGD:2004	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21742475|REF_RGD_ID:10046044
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:2004	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:9453001|REF_RGD_ID:10046046
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:9007730	Burns		ISO	RGD:2004	D	RGD:9068941	20200609	RGD			PMID:14960360|REF_RGD_ID:1598513
8779469	LOC102021956	alpha-2-macroglobulin	gene	DOID:9008821	Otitis Media with Effusion		IEP		D	RGD:11560528|PMID:2454602	20161109	RGD			
8779520	Usf2	upstream transcription factor 2, c-fos interacting	gene	DOID:10283	prostate cancer		ISO	RGD:734370	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8779520	Usf2	upstream transcription factor 2, c-fos interacting	gene	DOID:10283	prostate cancer		ISO	RGD:734370	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8779520	Usf2	upstream transcription factor 2, c-fos interacting	gene	DOID:1909	melanoma		ISO	RGD:734370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8779520	Usf2	upstream transcription factor 2, c-fos interacting	gene	DOID:3275	thymoma		ISO	RGD:734370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8779520	Usf2	upstream transcription factor 2, c-fos interacting	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:734370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8779520	Usf2	upstream transcription factor 2, c-fos interacting	gene	DOID:5041	esophageal cancer		ISO	RGD:734370	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8779520	Usf2	upstream transcription factor 2, c-fos interacting	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779520	Usf2	upstream transcription factor 2, c-fos interacting	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8779520	Usf2	upstream transcription factor 2, c-fos interacting	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8779533	Glod5	glyoxalase domain containing 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8779533	Glod5	glyoxalase domain containing 5	gene	DOID:1324	lung cancer		ISO	RGD:1603816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8779533	Glod5	glyoxalase domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8779541	Commd6	COMM domain containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779541	Commd6	COMM domain containing 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8779541	Commd6	COMM domain containing 6	gene	DOID:1115	sarcoma		ISO	RGD:1606132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8779541	Commd6	COMM domain containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1606132	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8779541	Commd6	COMM domain containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779551	Pno1	partner of NOB1 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779551	Pno1	partner of NOB1 homolog	gene	DOID:1909	melanoma		ISO	RGD:1604334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8779551	Pno1	partner of NOB1 homolog	gene	DOID:3070	high grade glioma		ISO	RGD:1604334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8779551	Pno1	partner of NOB1 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1604334	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8779551	Pno1	partner of NOB1 homolog	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8779551	Pno1	partner of NOB1 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8779551	Pno1	partner of NOB1 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
8779562	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8779562	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779562	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8779562	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:1324	lung cancer		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8779562	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:1909	melanoma		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8779562	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8779562	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8779562	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322590	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8779562	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779562	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8779562	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322590	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8779562	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8779562	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8779562	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8779562	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8779601	Rsph10b	radial spoke head 10 homolog B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8779601	Rsph10b	radial spoke head 10 homolog B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8779633	Arhgap30	Rho GTPase activating protein 30	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8779633	Arhgap30	Rho GTPase activating protein 30	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779633	Arhgap30	Rho GTPase activating protein 30	gene	DOID:10534	stomach cancer		ISO	RGD:1604190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8779633	Arhgap30	Rho GTPase activating protein 30	gene	DOID:1115	sarcoma		ISO	RGD:1604190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8779633	Arhgap30	Rho GTPase activating protein 30	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1604190	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8779633	Arhgap30	Rho GTPase activating protein 30	gene	DOID:1909	melanoma		ISO	RGD:1604190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8779633	Arhgap30	Rho GTPase activating protein 30	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8779633	Arhgap30	Rho GTPase activating protein 30	gene	DOID:3275	thymoma		ISO	RGD:1604190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8779633	Arhgap30	Rho GTPase activating protein 30	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8779633	Arhgap30	Rho GTPase activating protein 30	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1604190	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8779633	Arhgap30	Rho GTPase activating protein 30	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868|PMID:29511999
8779660	Med13l	mediator complex subunit 13L	gene	DOID:0060260	ptosis		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:0060320	inguinal hernia		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:0060326	myelomeningocele		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myelomeningocele	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dextro-looped transposition of the great arteries | ClinVar Annotator: match by term: MED13L-Related Disorder | ClinVar Annotator: match by term: MED13L-related disorder	PMID:14638541|PMID:16199547|PMID:17576681|PMID:21937992|PMID:23403903|PMID:24267886|PMID:24781760|PMID:24896178|PMID:25137640|PMID:25167861|PMID:25356899|PMID:25712080|PMID:25741868|PMID:25741884|PMID:25758992|PMID:27824329|PMID:27899622|PMID:28371282|PMID:28492532|PMID:28554332|PMID:28588821|PMID:28645799|PMID:29159987|PMID:29346770|PMID:29511999|PMID:29959045|PMID:30564305|PMID:31144778|PMID:31171384|PMID:31618753|PMID:31785789|PMID:36798993|PMID:5167861|PMID:9536098
8779660	Med13l	mediator complex subunit 13L	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:29511999
8779660	Med13l	mediator complex subunit 13L	gene	DOID:0070776	impaired intellectual development and distinctive facial features with or without cardiac defects		ISO	RGD:1314183	D	RGD:7240710	20190315	OMIM			
8779660	Med13l	mediator complex subunit 13L	gene	DOID:0070776	impaired intellectual development and distinctive facial features with or without cardiac defects		ISO	RGD:1314183	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Cardiac anomalies - developmental delay - facial dysmorphism syndrome | ClinVar Annotator: match by term: IMPAIRED INTELLECTUAL DEVELOPMENT AND DISTINCTIVE FACIAL FEATURES WITH CARDIAC DEFECTS | ClinVar Annotator: match by term: Impaired intellectual development and distinctive facial features with or without cardiac defects | ClinVar Annotator: match by term: MED13L-related condition | ClinVar Annotator: match by term: Mental retardation and distinctive facial features with or without cardiac defects	PMID:14638541|PMID:17576681|PMID:22542183|PMID:23403903|PMID:24781716|PMID:24781760|PMID:24896178|PMID:25106414|PMID:25712080|PMID:25741868|PMID:25741869|PMID:25758992|PMID:26046367|PMID:27500536|PMID:28492532|PMID:28554332|PMID:28645799|PMID:29511999|PMID:29758562|PMID:29959045|PMID:31690835|PMID:31785789|PMID:35887114|PMID:35982159|PMID:35982160|PMID:36798993|PMID:9536098
8779660	Med13l	mediator complex subunit 13L	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:0080636	syndromic microphthalmia		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic microphthalmia	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:0080833	laryngomalacia		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:10348	blepharophimosis		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:10534	stomach cancer		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:10579	leukodystrophy		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:1059	intellectual disability		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: severe intellectual disability	PMID:25167861|PMID:25741868|PMID:28492532|PMID:28554332|PMID:29511999|PMID:31785789|PMID:36368352|PMID:36798993
8779660	Med13l	mediator complex subunit 13L	gene	DOID:10754	otitis media		ISO	RGD:1314183	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:10907	microcephaly		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:28554332|PMID:29511999|PMID:31785789|PMID:36798993
8779660	Med13l	mediator complex subunit 13L	gene	DOID:10908	hydrocephalus		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:11111	hydronephrosis		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:1115	sarcoma		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:11193	syndactyly		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-syndromic syndactyly	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:11383	cryptorchidism		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:1143	exotropia		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:11782	astigmatism		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:11836	clubfoot		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Talipes equinovarus	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:1205	allergic disease		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:12215	oligohydramnios		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:1283	enterocele		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:25741868|PMID:29511999
8779660	Med13l	mediator complex subunit 13L	gene	DOID:12849	autistic disorder		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:1324	lung cancer		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:13620	patent foramen ovale		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868|PMID:29511999
8779660	Med13l	mediator complex subunit 13L	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:1459	hypothyroidism		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:1826	epilepsy		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:1909	melanoma		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:2340	craniosynostosis		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:255	hemangioma		ISO	RGD:1314183	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:25712080|PMID:25758992
8779660	Med13l	mediator complex subunit 13L	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker syndrome	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:2975	cystic kidney disease		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:3070	high grade glioma		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:3312	bipolar disorder		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:420	hypertrichosis		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:4481	allergic rhinitis		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:5041	esophageal cancer		ISO	RGD:1314183	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
8779660	Med13l	mediator complex subunit 13L	gene	DOID:535	sleep disorder		ISO	RGD:1314183	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:29511999
8779660	Med13l	mediator complex subunit 13L	gene	DOID:540	strabismus		ISO	RGD:1314183	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8779660	Med13l	mediator complex subunit 13L	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8779660	Med13l	mediator complex subunit 13L	gene	DOID:630	genetic disease		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12738880|PMID:14638541|PMID:23403903|PMID:24267886|PMID:24781760|PMID:24896178|PMID:25137640|PMID:25167861|PMID:25356899|PMID:25712080|PMID:25741868|PMID:25758992|PMID:27899622|PMID:28371282|PMID:28492532|PMID:28588821|PMID:28645799|PMID:29159987|PMID:29511999|PMID:5167861
8779660	Med13l	mediator complex subunit 13L	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:8488	polyhydramnios		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9000495	Tremor		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Resting tremor	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9001510	Funnel Chest		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9001581	Constipation		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:25741868|PMID:29511999
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9002580	Metatarsus Varus		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metatarsus adductus	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9003132	Sialorrhea		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9003133	Hypertelorism		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:29511999
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9003816	Macrocephaly		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314183	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25712080|PMID:25741868|PMID:25758992|PMID:28492532|PMID:29959045
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9004507	Hirsutism		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868|PMID:28492532|PMID:28554332|PMID:29511999|PMID:31785789|PMID:36798993
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9004798	Drug Resistant Epilepsy		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: drug-resistant epilepsy	PMID:25741868|PMID:29511999
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:25741868|PMID:29511999
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9005077	Joint Instability		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:29511999
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9005616	Micrognathism		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1314183	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9007402	Gliosis		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gliosis	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9007661	Dwarfism		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature | ClinVar Annotator: match by term: short stature	PMID:25741868|PMID:28492532|PMID:28554332|PMID:29511999|PMID:31785789|PMID:36798993
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25712080|PMID:25741868|PMID:25741884|PMID:25758992|PMID:28492532|PMID:28554332|PMID:29511999|PMID:31785789|PMID:36798993
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9008879	Self Mutilation		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Self-mutilation	PMID:25741868|PMID:28492532|PMID:28554332|PMID:29511999|PMID:31785789|PMID:36798993
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:936	brain disease		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1314183	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9667	placental abruption		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Placental abruption	
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9834	hyperopia		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
8779660	Med13l	mediator complex subunit 13L	gene	DOID:9840	esotropia		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
8779708	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779708	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8779708	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:1324	lung cancer		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8779708	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8779708	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:3275	thymoma		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8779708	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8779708	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8779708	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:4362	cervical cancer		ISO	RGD:1350948	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8779708	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:5041	esophageal cancer		ISO	RGD:1350948	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8779708	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779708	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8779708	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8779708	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8779708	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8779755	Rps3	ribosomal protein S3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779755	Rps3	ribosomal protein S3	gene	DOID:10534	stomach cancer		ISO	RGD:736568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8779755	Rps3	ribosomal protein S3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8779755	Rps3	ribosomal protein S3	gene	DOID:1324	lung cancer		ISO	RGD:736568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8779755	Rps3	ribosomal protein S3	gene	DOID:1909	melanoma		ISO	RGD:736568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8779755	Rps3	ribosomal protein S3	gene	DOID:5041	esophageal cancer		ISO	RGD:736568	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8779755	Rps3	ribosomal protein S3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779755	Rps3	ribosomal protein S3	gene	DOID:9003882	Chromosomal Instability		ISO	RGD:736568	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25341047
8779755	Rps3	ribosomal protein S3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8779755	Rps3	ribosomal protein S3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8779766	Bag2	BAG cochaperone 2	gene	DOID:0061098	Carpenter syndrome 1		ISO	RGD:11588202|RGD:11595491|RGD:11598228|RGD:11653951|RGD:28867705|RGD:28867706|RGD:28867708|RGD:28867709|RGD:28867711|RGD:28867713|RGD:28867714|RGD:28871659|RGD:28871663|RGD:28871665|RGD:28871668|RGD:28906604|RGD:28906606|RGD:28906608|RGD:28906610|RGD:28906788|RGD:28906791|RGD:28906792|RGD:28909040|RGD:28909043|RGD:28909046|RGD:28909048|RGD:28909049|RGD:28909050|RGD:28909053|RGD:28909055|RGD:28909245|RGD:28909247	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Carpenter syndrome 1 | ClinVar Annotator: match by term: RAB23-related condition	
8779766	Bag2	BAG cochaperone 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779779	Mael	maelstrom spermatogenic transposon silencer	gene	DOID:10534	stomach cancer		ISO	RGD:1605917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8779779	Mael	maelstrom spermatogenic transposon silencer	gene	DOID:12336	male infertility		ISO	RGD:1605917	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Male infertility	
8779779	Mael	maelstrom spermatogenic transposon silencer	gene	DOID:6039	uveal melanoma		ISO	RGD:1605917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8779795	Smad9	SMAD family member 9	gene	DOID:10283	prostate cancer		ISO	RGD:1350114	D	RGD:9068941	20200609	RGD		protein:altered localization	PMID:15042598|REF_RGD_ID:2299981
8779795	Smad9	SMAD family member 9	gene	DOID:1324	lung cancer		ISO	RGD:1350114	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:21515830|PMID:24465803|PMID:26253951
8779795	Smad9	SMAD family member 9	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:1350114	D	RGD:9068941	20240404	CTD		CTD Direct Evidence: marker/mechanism	
8779795	Smad9	SMAD family member 9	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:733518	D	RGD:9068941	20240404	MouseDO		OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344	
8779795	Smad9	SMAD family member 9	gene	DOID:4362	cervical cancer		ISO	RGD:1350114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8779795	Smad9	SMAD family member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779795	Smad9	SMAD family member 9	gene	DOID:630	genetic disease		ISO	RGD:1350114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8779795	Smad9	SMAD family member 9	gene	DOID:6432	pulmonary hypertension		ISO	RGD:71004	D	RGD:9068941	20200609	RGD			PMID:17347486|REF_RGD_ID:1643222
8779795	Smad9	SMAD family member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8779795	Smad9	SMAD family member 9	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1350114	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease	PMID:25741868|PMID:28492532|PMID:30029678
8779795	Smad9	SMAD family member 9	gene	DOID:9001929	Hypoglossal Nerve Injuries		ISO	RGD:71004	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hypoglossal nucleus	PMID:17166487|REF_RGD_ID:1643227
8779795	Smad9	SMAD family member 9	gene	DOID:9003493	primary pulmonary hypertension 2		ISO	RGD:1350114	D	RGD:7240710	20180130	OMIM			
8779795	Smad9	SMAD family member 9	gene	DOID:9003493	primary pulmonary hypertension 2		ISO	RGD:1350114	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PULMONARY HYPERTENSION, PRIMARY, 2 | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 2 | ClinVar Annotator: match by term: SMAD9-related condition	PMID:16199547|PMID:17576681|PMID:19419974|PMID:21920918|PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29631995|PMID:29650961|PMID:31727138|PMID:9536098
8779795	Smad9	SMAD family member 9	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1350114	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30510241
8779795	Smad9	SMAD family member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8779811	Slc25a51	solute carrier family 25 member 51	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779811	Slc25a51	solute carrier family 25 member 51	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8779811	Slc25a51	solute carrier family 25 member 51	gene	DOID:1324	lung cancer		ISO	RGD:1313070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8779811	Slc25a51	solute carrier family 25 member 51	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779811	Slc25a51	solute carrier family 25 member 51	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8779811	Slc25a51	solute carrier family 25 member 51	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8779832	Fbxo40	F-box protein 40	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779832	Fbxo40	F-box protein 40	gene	DOID:12849	autistic disorder		ISO	RGD:1320304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19404257
8779832	Fbxo40	F-box protein 40	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8779843	Maml1	mastermind like transcriptional coactivator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8779843	Maml1	mastermind like transcriptional coactivator 1	gene	DOID:10283	prostate cancer		ISO	RGD:1318517	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8779843	Maml1	mastermind like transcriptional coactivator 1	gene	DOID:10283	prostate cancer		ISO	RGD:1318517	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8779843	Maml1	mastermind like transcriptional coactivator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8779843	Maml1	mastermind like transcriptional coactivator 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1318518	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal chord	PMID:26067594|REF_RGD_ID:13524575
8779843	Maml1	mastermind like transcriptional coactivator 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8779843	Maml1	mastermind like transcriptional coactivator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779843	Maml1	mastermind like transcriptional coactivator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8779843	Maml1	mastermind like transcriptional coactivator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8779851	Pdcd2l	programmed cell death 2 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779851	Pdcd2l	programmed cell death 2 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8779851	Pdcd2l	programmed cell death 2 like	gene	DOID:1115	sarcoma		ISO	RGD:1601844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8779851	Pdcd2l	programmed cell death 2 like	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8779851	Pdcd2l	programmed cell death 2 like	gene	DOID:4362	cervical cancer		ISO	RGD:1601844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8779851	Pdcd2l	programmed cell death 2 like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8779851	Pdcd2l	programmed cell death 2 like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8779851	Pdcd2l	programmed cell death 2 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779851	Pdcd2l	programmed cell death 2 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8779866	Supt7l	SPT7 like, STAGA complex subunit gamma	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8779866	Supt7l	SPT7 like, STAGA complex subunit gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8779866	Supt7l	SPT7 like, STAGA complex subunit gamma	gene	DOID:1115	sarcoma		ISO	RGD:1602227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8779866	Supt7l	SPT7 like, STAGA complex subunit gamma	gene	DOID:1909	melanoma		ISO	RGD:1602227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8779866	Supt7l	SPT7 like, STAGA complex subunit gamma	gene	DOID:3070	high grade glioma		ISO	RGD:1602227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8779866	Supt7l	SPT7 like, STAGA complex subunit gamma	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8779866	Supt7l	SPT7 like, STAGA complex subunit gamma	gene	DOID:5041	esophageal cancer		ISO	RGD:1602227	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8779866	Supt7l	SPT7 like, STAGA complex subunit gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779866	Supt7l	SPT7 like, STAGA complex subunit gamma	gene	DOID:9009324	FISCHER-ZIRNSAK PROGEROID SYNDROME		ISO	RGD:1602227	D	RGD:7240710	20250423	OMIM			
8779866	Supt7l	SPT7 like, STAGA complex subunit gamma	gene	DOID:9009324	FISCHER-ZIRNSAK PROGEROID SYNDROME		ISO	RGD:1602227	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fischer-Zirnsak progeroid syndrome	
8779879	Mrpl54	mitochondrial ribosomal protein L54	gene	DOID:4362	cervical cancer		ISO	RGD:1313872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8779879	Mrpl54	mitochondrial ribosomal protein L54	gene	DOID:5041	esophageal cancer		ISO	RGD:1313872	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8779886	Dmrt3	doublesex and mab-3 related transcription factor 3	gene	DOID:1324	lung cancer		ISO	RGD:1314434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8779886	Dmrt3	doublesex and mab-3 related transcription factor 3	gene	DOID:1909	melanoma		ISO	RGD:1314434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8779886	Dmrt3	doublesex and mab-3 related transcription factor 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8779886	Dmrt3	doublesex and mab-3 related transcription factor 3	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1314434	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
8779886	Dmrt3	doublesex and mab-3 related transcription factor 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8779886	Dmrt3	doublesex and mab-3 related transcription factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8779886	Dmrt3	doublesex and mab-3 related transcription factor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8779886	Dmrt3	doublesex and mab-3 related transcription factor 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1314434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:733793	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:10534	stomach cancer		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:1115	sarcoma		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:1227	neutropenia		ISO	RGD:733793	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27725143
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:1324	lung cancer		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:2355	anemia		ISO	RGD:733793	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27725143
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:3275	thymoma		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:4362	cervical cancer		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:5041	esophageal cancer		ISO	RGD:733793	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:733793	D	RGD:9068941	20200609	RGD		DNA:translocation:cds: (human)	PMID:10477737|REF_RGD_ID:9693698
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:614	lymphopenia		ISO	RGD:733793	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27725143
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:74	hematopoietic system disease		ISO	RGD:733793	D	RGD:9068941	20251009	CTD		CTD Direct Evidence: marker/mechanism	PMID:39788167
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:9000647	Acute Erythroleukemia		ISO	RGD:733793	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30926971
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8779892	Nup98	nucleoporin 98 and 96 precursor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733793	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8779950	LOC102010839	cytochrome P450 2S1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779950	LOC102010839	cytochrome P450 2S1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314487	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8779950	LOC102010839	cytochrome P450 2S1	gene	DOID:10534	stomach cancer		ISO	RGD:1314487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8779950	LOC102010839	cytochrome P450 2S1	gene	DOID:1324	lung cancer		ISO	RGD:1314487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8779950	LOC102010839	cytochrome P450 2S1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779950	LOC102010839	cytochrome P450 2S1	gene	DOID:8893	psoriasis		ISO	RGD:1314487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12711469
8779950	LOC102010839	cytochrome P450 2S1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8779950	LOC102010839	cytochrome P450 2S1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8779950	LOC102010839	cytochrome P450 2S1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8779964	Cpe	carboxypeptidase E	gene	DOID:0050741	alcohol dependence		ISO	RGD:732381	D	RGD:9068941	20240502	RGD		DNA:SNP:CDS: (rs13706874) (human)	PMID:20201924|REF_RGD_ID:405650609
8779964	Cpe	carboxypeptidase E	gene	DOID:0050741	alcohol dependence		ISO	RGD:732381	D	RGD:9068941	20240502	RGD		associated with other drug dependencies; DNA:SNPs:CDS:intron (rs10517844)	PMID:27151647|REF_RGD_ID:405650603
8779964	Cpe	carboxypeptidase E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779964	Cpe	carboxypeptidase E	gene	DOID:1115	sarcoma		ISO	RGD:732381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8779964	Cpe	carboxypeptidase E	gene	DOID:11981	morbid obesity		ISO	RGD:732381	D	RGD:9068941	20200609	RGD		mRNA:increased expression:visceral abdominal fat:significantly higher expression in visceral fat than subcutaneous fat of morbidly obese subjects	PMID:12530526|REF_RGD_ID:1626182
8779964	Cpe	carboxypeptidase E	gene	DOID:1936	atherosclerosis		ISO	RGD:732381	D	RGD:9068941	20240502	RGD		mRNA:decreased expression:carotid plaque (human)	PMID:30305673|REF_RGD_ID:405650671
8779964	Cpe	carboxypeptidase E	gene	DOID:28	endocrine system disease		ISO	RGD:732381	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15358678
8779964	Cpe	carboxypeptidase E	gene	DOID:3068	glioblastoma	disease_progression	ISO	RGD:732381	D	RGD:9068941	20240502	RGD		mRNA, protein:decreased expression:brain tumor (human)	PMID:22249620|REF_RGD_ID:405650684
8779964	Cpe	carboxypeptidase E	gene	DOID:3393	coronary artery disease	severity	ISO	RGD:732381	D	RGD:9068941	20240504	RGD		DNA:SNPs:CDS:intron 4, exon 4 (A2925G, G2855A) (human)	PMID:18080843|REF_RGD_ID:405650688
8779964	Cpe	carboxypeptidase E	gene	DOID:5041	esophageal cancer		ISO	RGD:732381	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8779964	Cpe	carboxypeptidase E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779964	Cpe	carboxypeptidase E	gene	DOID:630	genetic disease		ISO	RGD:732381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8779964	Cpe	carboxypeptidase E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8779964	Cpe	carboxypeptidase E	gene	DOID:9002420	BDV Syndrome		ISO	RGD:732381	D	RGD:7240710	20210818	OMIM			
8779964	Cpe	carboxypeptidase E	gene	DOID:9002420	BDV Syndrome		ISO	RGD:732381	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BDV SYNDROME | ClinVar Annotator: match by term: BDV syndrome | ClinVar Annotator: match by term: CPE-related condition	PMID:11462236|PMID:25741868|PMID:26120850|PMID:28492532|PMID:35562395
8779964	Cpe	carboxypeptidase E	gene	DOID:9004657	Weight Gain		ISO	RGD:732381	D	RGD:9068941	20240502	RGD		associated with kidney transplant;DNA:SNP:CDS (rs1946816) (human)	PMID:26406335|REF_RGD_ID:405650673
8779964	Cpe	carboxypeptidase E	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:732381	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
8779964	Cpe	carboxypeptidase E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8779964	Cpe	carboxypeptidase E	gene	DOID:9007692	Insulin Resistance		ISO	RGD:732381	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15358678
8779964	Cpe	carboxypeptidase E	gene	DOID:9008023	Memory Disorders		ISO	RGD:732382	D	RGD:9068941	20200609	RGD			PMID:18570185|REF_RGD_ID:6483325
8779964	Cpe	carboxypeptidase E	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732381	D	RGD:9068941	20240502	RGD		DNA:SNP:cds (rs1583645) (human)	PMID:23776430|REF_RGD_ID:405650683
8779964	Cpe	carboxypeptidase E	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:732381	D	RGD:9068941	20200609	RGD		no association between obesity or diabetes and three SNPs (-53G>T, -144G>A, 219G>A) in Japanese patients	PMID:9662053|REF_RGD_ID:1626184
8779964	Cpe	carboxypeptidase E	gene	DOID:9352	type 2 diabetes mellitus	onset	ISO	RGD:732381	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:847C>T, amino acid R283W; earlier age of onset in heterozygotes in an four Ashkenazi families	PMID:11462236|REF_RGD_ID:1626183
8779964	Cpe	carboxypeptidase E	gene	DOID:9452	steatotic liver disease		ISO	RGD:732381	D	RGD:9068941	20240502	RGD		mRNA:decreased expression:stomach (human)	PMID:24716593|REF_RGD_ID:405650681
8779964	Cpe	carboxypeptidase E	gene	DOID:9970	obesity		ISO	RGD:732381	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15358678|PMID:23434795
8779964	Cpe	carboxypeptidase E	gene	DOID:9970	obesity		ISO	RGD:732381	D	RGD:9068941	20240502	RGD		DNA:SNP:intron (rs1946816, rs4481204) (human)	PMID:23900445|REF_RGD_ID:405650675
8779964	Cpe	carboxypeptidase E	gene	DOID:9970	obesity		ISO	RGD:732382	D	RGD:9068941	20200609	RGD		DNA:transition:CDS:729T>C, amino acid S202P; decreased activity results in decrease in processing of proinsulin	PMID:7663508|REF_RGD_ID:1626181
8779964	Cpe	carboxypeptidase E	gene	DOID:9970	obesity		ISO	RGD:732382	D	RGD:9068941	20220825	MouseDO		OMIM:601665	
8779964	Cpe	carboxypeptidase E	gene	DOID:9970	obesity	no_association	ISO	RGD:732381	D	RGD:9068941	20200609	RGD		no association between obesity or diabetes and three SNPs (-53G>T, -144G>A, 219G>A) in Japanese patients	PMID:9662053|REF_RGD_ID:1626184
8779981	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:0060354	Stormorken syndrome		ISO	RGD:1332545	D	RGD:9068941	20251016	MouseDO		OMIM:185070	
8779981	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:0080686	tubular aggregate myopathy 2		ISO	RGD:1606201	D	RGD:7240710	20200619	OMIM			
8779981	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:0080686	tubular aggregate myopathy 2		ISO	RGD:1606201	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYOPATHY, TUBULAR AGGREGATE, 2 | ClinVar Annotator: match by term: Myopathy, tubular aggregate, 2 | ClinVar Annotator: match by term: ORAI1-related condition	PMID:23447534|PMID:23613525|PMID:25227914|PMID:25741868|PMID:26138675|PMID:27063589|PMID:28058752|PMID:28492532|PMID:30382595
8779981	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:0111976	immunodeficiency 9		ISO	RGD:1606201	D	RGD:7240710	20180130	OMIM			
8779981	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:0111976	immunodeficiency 9		ISO	RGD:1606201	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 9 | ClinVar Annotator: match by term: Immune dysfunction with T-cell inactivation due to calcium entry defect 1 | ClinVar Annotator: match by term: Immunodeficiency 9	PMID:16582901|PMID:17576681|PMID:19182790|PMID:20004786|PMID:23447534|PMID:23613525|PMID:23943619|PMID:24033266|PMID:25741868|PMID:26035642|PMID:26070885|PMID:26138675|PMID:26546674|PMID:26576490|PMID:26809793|PMID:27063589|PMID:27066545|PMID:28058752|PMID:28492532|PMID:29155098|PMID:29184031|PMID:30243034|PMID:30382595|PMID:30831274|PMID:33361160|PMID:9536098
8779981	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:10763	hypertension		ISO	RGD:1606201	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19897708
8779981	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1606201	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8779981	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8779981	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779981	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:1606201	D	RGD:9068941	20220616	RGD		associated with stomach cancer; human cells in mouse model	PMID:27431311|REF_RGD_ID:152995400
8779981	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:9002092	Tubular Aggregate Myopathies		ISO	RGD:1606201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: tubular aggregate myopathy	PMID:25741868|PMID:28492532
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:0050865	tongue squamous cell carcinoma	exacerbates	ISO	RGD:1344155	D	RGD:9068941	20220303	RGD		mRNA, protein:increased expression:tongue (human)	PMID:32339054|REF_RGD_ID:151361191
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1344155	D	RGD:9068941	20220303	RGD		mRNA, protein:increased expression:colorectum (human)	PMID:25030436|REF_RGD_ID:151361190
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:0081292	traumatic brain injury		ISO	RGD:1591892	D	RGD:9068941	20200609	RGD			PMID:23797733|REF_RGD_ID:13673879
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1344155	D	RGD:9068941	20220324	RGD		mRNA:increased expression:stomach (human)	PMID:24192769|REF_RGD_ID:151665342
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:1344155	D	RGD:9068941	20220303	RGD			PMID:28667493|REF_RGD_ID:151361189
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1344155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:1591892	D	RGD:9068941	20200609	RGD			PMID:23939805|REF_RGD_ID:13673880
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:1612	breast cancer	exacerbates	ISO	RGD:1344155	D	RGD:9068941	20220303	RGD		protein:increased expression:breast (human)	PMID:27157613|REF_RGD_ID:151361193
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1344155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:2152	ovary epithelial cancer		ISO	RGD:1344155	D	RGD:9068941	20220303	RGD		protein:increased expression:epithelium of female gonad (human)	PMID:30008853|REF_RGD_ID:151361195
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:2152	ovary epithelial cancer	exacerbates	ISO	RGD:1344155	D	RGD:9068941	20220317	RGD		protein:increased expression:epithelium of female gonad (human)	PMID:29113212|REF_RGD_ID:151665180
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1344155	D	RGD:9068941	20220303	RGD		mRNA:increased expression:brain (human)	PMID:32481602|REF_RGD_ID:151361197
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:3498	pancreatic ductal adenocarcinoma		ISO	RGD:1344155	D	RGD:9068941	20220303	RGD		mRNA:increased expression:pancreatic duct (human)	PMID:32481602|REF_RGD_ID:151361197
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1344155	D	RGD:9068941	20220303	RGD		mRNA:increased expression:esophagus (human)	PMID:32481602|REF_RGD_ID:151361197
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:3748	esophagus squamous cell carcinoma	exacerbates	ISO	RGD:1344155	D	RGD:9068941	20220303	RGD		protein:increased expression:esophagus (human)	PMID:26490982|REF_RGD_ID:151361192
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344155	D	RGD:9068941	20220303	RGD		mRNA:decreased expression:lung (human)	PMID:32481602|REF_RGD_ID:151361197
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1344155	D	RGD:9068941	20220303	RGD		mRNA:decreased expression:lung (human)	PMID:32481602|REF_RGD_ID:151361197
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1344155	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1344155	D	RGD:9068941	20220303	RGD		associated with Chronic Hepatitis C;mRNA:increased expression:liver (human)	PMID:25995247|REF_RGD_ID:151361196
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1344155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344155	D	RGD:9068941	20220303	RGD		associated with Chronic Hepatitis C;mRNA:increased expression:liver (human)	PMID:25995247|REF_RGD_ID:151361196
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1344155	D	RGD:9068941	20220303	RGD		human cell line in a mouse model	PMID:19637194|REF_RGD_ID:151361194
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1344155	D	RGD:9068941	20220303	RGD		mRNA:increased expression:liver (human)	PMID:31587040|REF_RGD_ID:151361188
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1344155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1344155	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35915169
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1344155	D	RGD:9068941	20220303	RGD		mRNA:increased expression:oral cavity (human)	PMID:32481602|REF_RGD_ID:151361197
8779990	Fubp1	far upstream element binding protein 1	gene	DOID:9261	nasopharynx carcinoma	exacerbates	ISO	RGD:1344155	D	RGD:9068941	20220303	RGD		protein:increased expression:nasopharynx (human)	PMID:26469968|REF_RGD_ID:11343512
8780048	Acsf2	acyl-CoA synthetase family member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8780048	Acsf2	acyl-CoA synthetase family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1604594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8780048	Acsf2	acyl-CoA synthetase family member 2	gene	DOID:3070	high grade glioma		ISO	RGD:1604594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8780048	Acsf2	acyl-CoA synthetase family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8780048	Acsf2	acyl-CoA synthetase family member 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
8780048	Acsf2	acyl-CoA synthetase family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780048	Acsf2	acyl-CoA synthetase family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8780048	Acsf2	acyl-CoA synthetase family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8780071	Lrfn5	leucine rich repeat and fibronectin type III domain containing 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8780071	Lrfn5	leucine rich repeat and fibronectin type III domain containing 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780071	Lrfn5	leucine rich repeat and fibronectin type III domain containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1319662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8780071	Lrfn5	leucine rich repeat and fibronectin type III domain containing 5	gene	DOID:1324	lung cancer		ISO	RGD:1319662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8780071	Lrfn5	leucine rich repeat and fibronectin type III domain containing 5	gene	DOID:1909	melanoma		ISO	RGD:1319662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8780071	Lrfn5	leucine rich repeat and fibronectin type III domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780071	Lrfn5	leucine rich repeat and fibronectin type III domain containing 5	gene	DOID:630	genetic disease		ISO	RGD:1319662	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8780094	Fam151b	family with sequence similarity 151 member B	gene	DOID:1115	sarcoma		ISO	RGD:1603888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8780094	Fam151b	family with sequence similarity 151 member B	gene	DOID:1324	lung cancer		ISO	RGD:1603888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8780094	Fam151b	family with sequence similarity 151 member B	gene	DOID:1909	melanoma		ISO	RGD:1603888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8780094	Fam151b	family with sequence similarity 151 member B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8780094	Fam151b	family with sequence similarity 151 member B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8780094	Fam151b	family with sequence similarity 151 member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780094	Fam151b	family with sequence similarity 151 member B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8780112	Nme7	NME/NM23 family member 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8780112	Nme7	NME/NM23 family member 7	gene	DOID:0080600	COVID-19		ISO	RGD:733959	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8780112	Nme7	NME/NM23 family member 7	gene	DOID:10534	stomach cancer		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8780112	Nme7	NME/NM23 family member 7	gene	DOID:10908	hydrocephalus		ISO	RGD:733960	D	RGD:9068941	20220825	MouseDO		OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219	
8780112	Nme7	NME/NM23 family member 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8780112	Nme7	NME/NM23 family member 7	gene	DOID:1115	sarcoma		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8780112	Nme7	NME/NM23 family member 7	gene	DOID:1909	melanoma		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8780112	Nme7	NME/NM23 family member 7	gene	DOID:303	substance-related disorder		ISO	RGD:733959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8780112	Nme7	NME/NM23 family member 7	gene	DOID:3275	thymoma		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8780112	Nme7	NME/NM23 family member 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8780112	Nme7	NME/NM23 family member 7	gene	DOID:4362	cervical cancer		ISO	RGD:733959	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8780112	Nme7	NME/NM23 family member 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8780112	Nme7	NME/NM23 family member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780112	Nme7	NME/NM23 family member 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8780112	Nme7	NME/NM23 family member 7	gene	DOID:758	visceral heterotaxy 5	susceptibility	ISO	RGD:733960	D	RGD:9068941	20250206	RGD			PMID:20080492|REF_RGD_ID:155630601
8780112	Nme7	NME/NM23 family member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8780112	Nme7	NME/NM23 family member 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8780112	Nme7	NME/NM23 family member 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8780112	Nme7	NME/NM23 family member 7	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:733959	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
8780128	Stmn1	stathmin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68960	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780128	Stmn1	stathmin 1	gene	DOID:0060058	lymphoma		ISO	RGD:68960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8780128	Stmn1	stathmin 1	gene	DOID:1909	melanoma		ISO	RGD:68960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8780128	Stmn1	stathmin 1	gene	DOID:2394	ovarian cancer		ISO	RGD:68960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8780128	Stmn1	stathmin 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:68960	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8780128	Stmn1	stathmin 1	gene	DOID:305	carcinoma		ISO	RGD:68960	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8780128	Stmn1	stathmin 1	gene	DOID:3070	high grade glioma		ISO	RGD:68960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8780128	Stmn1	stathmin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780128	Stmn1	stathmin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68960	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8780128	Stmn1	stathmin 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:68960	D	RGD:9068941	20200609	RGD			PMID:28982915|REF_RGD_ID:21408578
8780128	Stmn1	stathmin 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:68960	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8780128	Stmn1	stathmin 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:68960	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17455228
8780128	Stmn1	stathmin 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:68960	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8780128	Stmn1	stathmin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8780128	Stmn1	stathmin 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:68960	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17659439
8780146	Rpl11	ribosomal protein L11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780146	Rpl11	ribosomal protein L11	gene	DOID:0060058	lymphoma	susceptibility	ISO	RGD:1318595	D	RGD:9068941	20200609	RGD			PMID:26489471|REF_RGD_ID:11535971
8780146	Rpl11	ribosomal protein L11	gene	DOID:0111878	Diamond-Blackfan anemia 7		ISO	RGD:1318594	D	RGD:7240710	20180130	OMIM			
8780146	Rpl11	ribosomal protein L11	gene	DOID:0111878	Diamond-Blackfan anemia 7		ISO	RGD:1318594	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 7 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 7	PMID:16199547|PMID:17576681|PMID:19061985|PMID:19191325|PMID:19773262|PMID:25741868|PMID:28492532|PMID:30503522|PMID:31131953|PMID:34110484|PMID:9536098
8780146	Rpl11	ribosomal protein L11	gene	DOID:10534	stomach cancer		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8780146	Rpl11	ribosomal protein L11	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:16199547|PMID:17576681|PMID:19061985|PMID:19773262|PMID:20960466|PMID:22689679|PMID:23718193|PMID:25741868|PMID:26136524|PMID:26185635|PMID:28492532|PMID:30503522|PMID:31131953|PMID:31855845|PMID:33718801|PMID:34110484|PMID:9536098
8780146	Rpl11	ribosomal protein L11	gene	DOID:1340	pure red-cell aplasia		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pure red-cell aplasia	PMID:19061985|PMID:19191325|PMID:19773262|PMID:25741868|PMID:28492532
8780146	Rpl11	ribosomal protein L11	gene	DOID:1342	congenital hypoplastic anemia		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypoplastic anemia	PMID:19061985|PMID:19773262|PMID:25741868|PMID:28492532
8780146	Rpl11	ribosomal protein L11	gene	DOID:2355	anemia		ISO	RGD:1318594	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:32581362
8780146	Rpl11	ribosomal protein L11	gene	DOID:2361	macrocytic anemia		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocytic anemia	PMID:19061985|PMID:19773262|PMID:25741868|PMID:28492532
8780146	Rpl11	ribosomal protein L11	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1318594	D	RGD:9068941	20200609	RGD		DNA:missense mutation, frameshift mutation:p.R18P, p.G30fs (human)	PMID:23377281|REF_RGD_ID:11535972
8780146	Rpl11	ribosomal protein L11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780146	Rpl11	ribosomal protein L11	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318594	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
8780146	Rpl11	ribosomal protein L11	gene	DOID:9003507	Premature Birth		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:19061985|PMID:19773262|PMID:25741868|PMID:28492532
8780146	Rpl11	ribosomal protein L11	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8780146	Rpl11	ribosomal protein L11	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:19061985|PMID:19773262|PMID:25741868|PMID:28492532
8780146	Rpl11	ribosomal protein L11	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	
8780146	Rpl11	ribosomal protein L11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8780146	Rpl11	ribosomal protein L11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8780160	Slc25a29	solute carrier family 25 member 29	gene	DOID:0080600	COVID-19		ISO	RGD:1317684	D	RGD:9068941	20200613	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8780160	Slc25a29	solute carrier family 25 member 29	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780160	Slc25a29	solute carrier family 25 member 29	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8780160	Slc25a29	solute carrier family 25 member 29	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8780160	Slc25a29	solute carrier family 25 member 29	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1317684	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8780160	Slc25a29	solute carrier family 25 member 29	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
8780172	Mettl4	methyltransferase 4, N6-adenosine	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8780172	Mettl4	methyltransferase 4, N6-adenosine	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8780172	Mettl4	methyltransferase 4, N6-adenosine	gene	DOID:3275	thymoma		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8780172	Mettl4	methyltransferase 4, N6-adenosine	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8780172	Mettl4	methyltransferase 4, N6-adenosine	gene	DOID:5041	esophageal cancer		ISO	RGD:1346719	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8780172	Mettl4	methyltransferase 4, N6-adenosine	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780172	Mettl4	methyltransferase 4, N6-adenosine	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8780172	Mettl4	methyltransferase 4, N6-adenosine	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8780172	Mettl4	methyltransferase 4, N6-adenosine	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8780172	Mettl4	methyltransferase 4, N6-adenosine	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8780172	Mettl4	methyltransferase 4, N6-adenosine	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8780199	Tiam2	TIAM Rac1 associated GEF 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8780199	Tiam2	TIAM Rac1 associated GEF 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780199	Tiam2	TIAM Rac1 associated GEF 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345903	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8780199	Tiam2	TIAM Rac1 associated GEF 2	gene	DOID:1115	sarcoma		ISO	RGD:1345903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8780199	Tiam2	TIAM Rac1 associated GEF 2	gene	DOID:1909	melanoma		ISO	RGD:1345903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8780199	Tiam2	TIAM Rac1 associated GEF 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8780199	Tiam2	TIAM Rac1 associated GEF 2	gene	DOID:303	substance-related disorder		ISO	RGD:1345903	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8780199	Tiam2	TIAM Rac1 associated GEF 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8780199	Tiam2	TIAM Rac1 associated GEF 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1345903	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8780199	Tiam2	TIAM Rac1 associated GEF 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780199	Tiam2	TIAM Rac1 associated GEF 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8780199	Tiam2	TIAM Rac1 associated GEF 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8780245	Tnip3	TNFAIP3 interacting protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780245	Tnip3	TNFAIP3 interacting protein 3	gene	DOID:0060058	lymphoma		ISO	RGD:1346864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8780245	Tnip3	TNFAIP3 interacting protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1346864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8780245	Tnip3	TNFAIP3 interacting protein 3	gene	DOID:1909	melanoma		ISO	RGD:1346864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8780245	Tnip3	TNFAIP3 interacting protein 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1346864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8780245	Tnip3	TNFAIP3 interacting protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:0110338	osteogenesis imperfecta type 17		ISO	RGD:731035	D	RGD:7240710	20180130	OMIM			
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:0110338	osteogenesis imperfecta type 17		ISO	RGD:731035	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XVII | ClinVar Annotator: match by term: Osteogenesis imperfecta type 17 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type xvii | ClinVar Annotator: match by term: SPARC-related condition	PMID:25741868|PMID:28492532
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:0111535	progressive osseous heteroplasia		ISO	RGD:731035	D	RGD:9068941	20200609	RGD		protein:increased expression:dermis:	PMID:18422975|REF_RGD_ID:9068449
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:10325	silicosis		ISO	RGD:731035	D	RGD:9068941	20241107	CTD		CTD Direct Evidence: marker/mechanism	PMID:38403151
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:10976	membranous glomerulonephritis		ISO	RGD:3742	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:8943481|REF_RGD_ID:2300069
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731035	D	RGD:9068941	20200609	RGD			PMID:17149610|REF_RGD_ID:2300021
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:731035	D	RGD:9068941	20200609	RGD			PMID:11696817|REF_RGD_ID:2300024
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:1115	sarcoma		ISO	RGD:731035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:11713	diabetic angiopathy		ISO	RGD:3742	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:mesentery, blood vessel	PMID:10625572|REF_RGD_ID:2300063
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:731035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:25741868|PMID:28492532
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:1324	lung cancer		ISO	RGD:731035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:1588	thrombocytopenia		ISO	RGD:731035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27725143
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:182	calcinosis		ISO	RGD:731035	D	RGD:9068941	20200609	RGD		protein:increased expression:dermis:	PMID:18422975|REF_RGD_ID:9068449
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:1909	melanoma		ISO	RGD:731035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:2152	ovary epithelial cancer		ISO	RGD:731035	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:stromal cell	PMID:10502421|REF_RGD_ID:2300027
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:2237	hepatitis		ISO	RGD:731035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23408952
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:2871	endometrial carcinoma		ISO	RGD:731035	D	RGD:9068941	20200609	RGD		DNA, mRNA, protein:hypermethylation, altered expression	PMID:17487382|REF_RGD_ID:2300020
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:2893	cervix carcinoma		ISO	RGD:731035	D	RGD:9068941	20200609	RGD		DNA:hypermethylation	PMID:16434596|REF_RGD_ID:2300022
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:3742	D	RGD:9068941	20200609	RGD		mRNA:increased expression:glomerulus	PMID:8644857|REF_RGD_ID:2300070
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:3275	thymoma		ISO	RGD:731035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:11336	D	RGD:9068941	20200619	RGD		associated with  Middle East respiratory syndrome;mRNA:increased expression:lung:	PMID:31838832|REF_RGD_ID:30309204
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:731035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22156929
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:4450	renal cell carcinoma		ISO	RGD:731035	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney	PMID:11679940|REF_RGD_ID:2300025
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:4676	uremia		ISO	RGD:731035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19092814
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:5041	esophageal cancer		ISO	RGD:731035	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:5082	liver cirrhosis		ISO	RGD:731035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23408952
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:5517	stomach carcinoma		ISO	RGD:3742	D	RGD:9068941	20200609	RGD		mRNA:increased expression:stomach mucosa	PMID:12359048|REF_RGD_ID:2300058
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:557	kidney disease		ISO	RGD:731035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12660331
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:5844	myocardial infarction		ISO	RGD:3742	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:12826287|REF_RGD_ID:2300056
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:630	genetic disease		ISO	RGD:731035	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:90	degenerative disc disease		ISO	RGD:731035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20714283
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:11336	D	RGD:9068941	20200609	RGD			PMID:17611274|REF_RGD_ID:2300052
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9000998	Brain Injuries		ISO	RGD:3742	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain, blood vessel	PMID:9704602|REF_RGD_ID:2300066
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3742	D	RGD:9068941	20200609	RGD			PMID:18615449|REF_RGD_ID:2300030
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3742	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver, fat cell	PMID:8786698|REF_RGD_ID:2300071
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:18615449|PMID:25380136
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:3742	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:skin, fibroblast	PMID:8245406|REF_RGD_ID:2300076
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:3742	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression:kidney	PMID:8569083|REF_RGD_ID:2300072
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:731035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20164124
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9002211	Hyperalgesia		ISO	RGD:731035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20714283
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:11336	D	RGD:9068941	20200609	RGD			PMID:17951402|REF_RGD_ID:2300019
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:731035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19177197
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:731035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17397030
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9003669	Low Back Pain		ISO	RGD:731035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20714283
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9004657	Weight Gain		ISO	RGD:731035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9005372	Inflammation		ISO	RGD:11336	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:17717147|REF_RGD_ID:2300051
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9005749	Necrosis		ISO	RGD:731035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23408952
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9005930	Endotoxemia		ISO	RGD:3742	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:kidney	PMID:10703670|REF_RGD_ID:2300026
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:731035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9007702	Carcinogenesis		ISO	RGD:731035	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:26783756
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:731035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18458674
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18206229
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9256	colorectal cancer		ISO	RGD:731035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9538	multiple myeloma		ISO	RGD:731035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18172295
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9538	multiple myeloma	disease_progression	ISO	RGD:731035	D	RGD:9068941	20230928	RGD		DNA:hypermethylation: :	PMID:23699600|REF_RGD_ID:11073605
8780271	Sparc	secreted protein acidic and cysteine rich	gene	DOID:9970	obesity		ISO	RGD:11336	D	RGD:9068941	20200609	RGD		mRNA:increased expression:adipose tissue	PMID:11294850|REF_RGD_ID:2300062
8780291	Rnf13	ring finger protein 13	gene	DOID:0070297	primary microcephaly		ISO	RGD:1351392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
8780291	Rnf13	ring finger protein 13	gene	DOID:0112209	developmental and epileptic encephalopathy 73		ISO	RGD:1351392	D	RGD:7240710	20190417	OMIM			
8780291	Rnf13	ring finger protein 13	gene	DOID:0112209	developmental and epileptic encephalopathy 73		ISO	RGD:1351392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 73 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 73 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 73 | ClinVar Annotator: match by term: RNF13-related condition	PMID:25741868|PMID:28492532|PMID:30595371|PMID:37668308
8780291	Rnf13	ring finger protein 13	gene	DOID:10534	stomach cancer		ISO	RGD:1351392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8780291	Rnf13	ring finger protein 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8780291	Rnf13	ring finger protein 13	gene	DOID:11836	clubfoot		ISO	RGD:1351392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
8780291	Rnf13	ring finger protein 13	gene	DOID:1826	epilepsy		ISO	RGD:1351392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8780291	Rnf13	ring finger protein 13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8780291	Rnf13	ring finger protein 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780291	Rnf13	ring finger protein 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8780291	Rnf13	ring finger protein 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8780291	Rnf13	ring finger protein 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:17576681|PMID:28492532|PMID:9536098
8780304	Pfn2	profilin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8780304	Pfn2	profilin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780304	Pfn2	profilin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8780304	Pfn2	profilin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8780304	Pfn2	profilin 2	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:734176	D	RGD:9068941	20220901	RGD		mRNA:increased expression:liver (human)	PMID:35693827|REF_RGD_ID:153344586
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1321308	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short ribs | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:16199547|PMID:17024374|PMID:19251731|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532|PMID:29068549
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1321308	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:23169490|PMID:29620724|PMID:34645488
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321308	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:0110085	asphyxiating thoracic dystrophy 1		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome	PMID:17024374|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532|PMID:29068549
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:0111571	Weyers acrofacial dysostosis		ISO	RGD:1321308	D	RGD:7240710	20180130	OMIM			
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:0111571	Weyers acrofacial dysostosis		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS | ClinVar Annotator: match by term: WEYERS ACROFACIAL DYSOSTOSIS	PMID:12468274|PMID:12571802|PMID:16199547|PMID:16404586|PMID:17024374|PMID:17576681|PMID:18182642|PMID:19251731|PMID:19810119|PMID:19876929|PMID:21815252|PMID:22406498|PMID:23220543|PMID:24033266|PMID:25047945|PMID:25500235|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26580685|PMID:26748586|PMID:27168972|PMID:28492532|PMID:29068549|PMID:30881389|PMID:31645978|PMID:32369273|PMID:33057194|PMID:33448881|PMID:35927022|PMID:37107645|PMID:38531627|PMID:9536098
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:0111571	Weyers acrofacial dysostosis		ISO	RGD:1321308	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: EVC-related disorder | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS | ClinVar Annotator: match by term: WEYERS ACROFACIAL DYSOSTOSIS	PMID:12468274|PMID:12571802|PMID:16199547|PMID:17024374|PMID:17576681|PMID:19251731|PMID:19810119|PMID:19876929|PMID:21815252|PMID:22406498|PMID:23220543|PMID:24033266|PMID:25047945|PMID:25500235|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26580685|PMID:26748586|PMID:27168972|PMID:28492532|PMID:29068549|PMID:30881389|PMID:31645978|PMID:32369273|PMID:33057194|PMID:33448881|PMID:35927022|PMID:37107645|PMID:38531627|PMID:9536098
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:12714	Ellis-Van Creveld syndrome		ISO	RGD:1321308	D	RGD:7240710	20180130	OMIM			
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:12714	Ellis-Van Creveld syndrome		ISO	RGD:1321308	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Chondroectodermal dysplasia | ClinVar Annotator: match by term: ELLIS-VAN CREVELD SYNDROME | ClinVar Annotator: match by term: Ellis-van Creveld syndrome | ClinVar Annotator: match by term: Mesoectodermal dysplasia	PMID:12468274|PMID:12571802|PMID:16199547|PMID:17024374|PMID:17576681|PMID:19251731|PMID:19810119|PMID:19876929|PMID:20184732|PMID:21199751|PMID:21815252|PMID:22406498|PMID:23026208|PMID:23220543|PMID:24033266|PMID:25047945|PMID:25500235|PMID:25525159|PMID:25741868|PMID:26064711|PMID:26580685|PMID:26748586|PMID:26818569|PMID:27168972|PMID:27280866|PMID:28492532|PMID:29068549|PMID:29321360|PMID:29456477|PMID:32369273|PMID:33057194|PMID:33448881|PMID:35927022|PMID:37107645|PMID:37485807|PMID:7218275|PMID:9536098
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:12714	Ellis-Van Creveld syndrome	susceptibility	ISO	RGD:1321308	D	RGD:9068941	20200609	RGD		DNA:mutations	PMID:12571802|REF_RGD_ID:1600212
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:1682	congenital heart disease		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:17024374|PMID:19810119|PMID:19876929|PMID:25741868|PMID:26580685|PMID:28492532
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12468274|PMID:17024374|PMID:19810119|PMID:19876929|PMID:23220543|PMID:24033266|PMID:25525159|PMID:25741868|PMID:28492532
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:9002747	Selective Tooth Agenesis 2		ISO	RGD:1321308	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Tooth agenesis, selective, 2	PMID:25741868
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10700184|PMID:12468274|PMID:12571802|PMID:17024374|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8780315	Evc2	EvC ciliary complex subunit 2	gene	DOID:9249	Beemer-Langer syndrome		ISO	RGD:1321308	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome	PMID:17024374|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532|PMID:29068549
8780352	Znhit1	zinc finger HIT-type containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8780352	Znhit1	zinc finger HIT-type containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1318185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8780352	Znhit1	zinc finger HIT-type containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8780352	Znhit1	zinc finger HIT-type containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318185	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8780352	Znhit1	zinc finger HIT-type containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780367	Mob3b	MOB kinase activator 3B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8780367	Mob3b	MOB kinase activator 3B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780367	Mob3b	MOB kinase activator 3B	gene	DOID:10534	stomach cancer		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8780367	Mob3b	MOB kinase activator 3B	gene	DOID:1115	sarcoma		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8780367	Mob3b	MOB kinase activator 3B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8780367	Mob3b	MOB kinase activator 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780367	Mob3b	MOB kinase activator 3B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8780367	Mob3b	MOB kinase activator 3B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8780367	Mob3b	MOB kinase activator 3B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8780380	Ppp1r12b	protein phosphatase 1 regulatory subunit 12B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8780380	Ppp1r12b	protein phosphatase 1 regulatory subunit 12B	gene	DOID:0050938	breast lobular carcinoma		ISO	RGD:1319551	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:28650484
8780380	Ppp1r12b	protein phosphatase 1 regulatory subunit 12B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780380	Ppp1r12b	protein phosphatase 1 regulatory subunit 12B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8780380	Ppp1r12b	protein phosphatase 1 regulatory subunit 12B	gene	DOID:1115	sarcoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8780380	Ppp1r12b	protein phosphatase 1 regulatory subunit 12B	gene	DOID:1324	lung cancer		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8780380	Ppp1r12b	protein phosphatase 1 regulatory subunit 12B	gene	DOID:3275	thymoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8780380	Ppp1r12b	protein phosphatase 1 regulatory subunit 12B	gene	DOID:4362	cervical cancer		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8780380	Ppp1r12b	protein phosphatase 1 regulatory subunit 12B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780380	Ppp1r12b	protein phosphatase 1 regulatory subunit 12B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8780380	Ppp1r12b	protein phosphatase 1 regulatory subunit 12B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8780380	Ppp1r12b	protein phosphatase 1 regulatory subunit 12B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8780380	Ppp1r12b	protein phosphatase 1 regulatory subunit 12B	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1319551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28650484
8780380	Ppp1r12b	protein phosphatase 1 regulatory subunit 12B	gene	DOID:9004872	Congenital Infantile Lactic Acidosis		ISO	RGD:1319551	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital lactic acidosis	
8780380	Ppp1r12b	protein phosphatase 1 regulatory subunit 12B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8780380	Ppp1r12b	protein phosphatase 1 regulatory subunit 12B	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28650484
8780380	Ppp1r12b	protein phosphatase 1 regulatory subunit 12B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8780380	Ppp1r12b	protein phosphatase 1 regulatory subunit 12B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8780380	Ppp1r12b	protein phosphatase 1 regulatory subunit 12B	gene	DOID:9256	colorectal cancer		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8780450	Golm1	golgi membrane protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8780450	Golm1	golgi membrane protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780450	Golm1	golgi membrane protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1322921	D	RGD:9068941	20230923	RGD			PMID:35923315|REF_RGD_ID:401827120
8780450	Golm1	golgi membrane protein 1	gene	DOID:10283	prostate cancer		ISO	RGD:1322921	D	RGD:9068941	20230921	RGD		protein,mRNA:increased expression:prostate	PMID:29181846|REF_RGD_ID:401827116
8780450	Golm1	golgi membrane protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8780450	Golm1	golgi membrane protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8780450	Golm1	golgi membrane protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1322921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8780450	Golm1	golgi membrane protein 1	gene	DOID:11476	osteoporosis		ISO	RGD:1322921	D	RGD:9068941	20230921	RGD		protein:increased expression:serum	PMID:30396165|REF_RGD_ID:401827113
8780450	Golm1	golgi membrane protein 1	gene	DOID:11476	osteoporosis	treatment	ISO	RGD:1322922	D	RGD:9068941	20230921	RGD			PMID:30396165|REF_RGD_ID:401827113
8780450	Golm1	golgi membrane protein 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:1322921	D	RGD:9068941	20230923	RGD			PMID:37338014|REF_RGD_ID:401827117
8780450	Golm1	golgi membrane protein 1	gene	DOID:1909	melanoma		ISO	RGD:1322921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8780450	Golm1	golgi membrane protein 1	gene	DOID:2237	hepatitis		ISO	RGD:1322921	D	RGD:9068941	20230923	RGD		protein:increased expression:serum	PMID:21140449|REF_RGD_ID:401827118
8780450	Golm1	golgi membrane protein 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1322921	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8780450	Golm1	golgi membrane protein 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1322921	D	RGD:9068941	20230923	RGD		protein:increased expression:serum	PMID:21140449|REF_RGD_ID:401827118
8780450	Golm1	golgi membrane protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8780450	Golm1	golgi membrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780450	Golm1	golgi membrane protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8780450	Golm1	golgi membrane protein 1	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1322921	D	RGD:9068941	20230923	RGD		mRNA, protein:increased expression:liver	PMID:21443671|REF_RGD_ID:401827119
8780450	Golm1	golgi membrane protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8780450	Golm1	golgi membrane protein 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1322921	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8780450	Golm1	golgi membrane protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8780450	Golm1	golgi membrane protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8780469	Zc3h7a	zinc finger CCCH-type containing 7A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8780469	Zc3h7a	zinc finger CCCH-type containing 7A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780469	Zc3h7a	zinc finger CCCH-type containing 7A	gene	DOID:10534	stomach cancer		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8780469	Zc3h7a	zinc finger CCCH-type containing 7A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8780469	Zc3h7a	zinc finger CCCH-type containing 7A	gene	DOID:1324	lung cancer		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8780469	Zc3h7a	zinc finger CCCH-type containing 7A	gene	DOID:1909	melanoma		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8780469	Zc3h7a	zinc finger CCCH-type containing 7A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8780469	Zc3h7a	zinc finger CCCH-type containing 7A	gene	DOID:3275	thymoma		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8780469	Zc3h7a	zinc finger CCCH-type containing 7A	gene	DOID:4362	cervical cancer		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8780469	Zc3h7a	zinc finger CCCH-type containing 7A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8780469	Zc3h7a	zinc finger CCCH-type containing 7A	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8780469	Zc3h7a	zinc finger CCCH-type containing 7A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780469	Zc3h7a	zinc finger CCCH-type containing 7A	gene	DOID:6039	uveal melanoma		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8780469	Zc3h7a	zinc finger CCCH-type containing 7A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8780469	Zc3h7a	zinc finger CCCH-type containing 7A	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8780469	Zc3h7a	zinc finger CCCH-type containing 7A	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8780469	Zc3h7a	zinc finger CCCH-type containing 7A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8780469	Zc3h7a	zinc finger CCCH-type containing 7A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8780469	Zc3h7a	zinc finger CCCH-type containing 7A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8780469	Zc3h7a	zinc finger CCCH-type containing 7A	gene	DOID:9256	colorectal cancer		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8780496	Ceacam19	CEA cell adhesion molecule 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780496	Ceacam19	CEA cell adhesion molecule 19	gene	DOID:1115	sarcoma		ISO	RGD:1601983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8780496	Ceacam19	CEA cell adhesion molecule 19	gene	DOID:4362	cervical cancer		ISO	RGD:1601983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8780496	Ceacam19	CEA cell adhesion molecule 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780496	Ceacam19	CEA cell adhesion molecule 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8780512	Igsf9b	immunoglobulin superfamily member 9B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8780512	Igsf9b	immunoglobulin superfamily member 9B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780512	Igsf9b	immunoglobulin superfamily member 9B	gene	DOID:10534	stomach cancer		ISO	RGD:1604824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8780512	Igsf9b	immunoglobulin superfamily member 9B	gene	DOID:1115	sarcoma		ISO	RGD:1604824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8780512	Igsf9b	immunoglobulin superfamily member 9B	gene	DOID:1324	lung cancer		ISO	RGD:1604824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8780512	Igsf9b	immunoglobulin superfamily member 9B	gene	DOID:1909	melanoma		ISO	RGD:1604824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8780512	Igsf9b	immunoglobulin superfamily member 9B	gene	DOID:3275	thymoma		ISO	RGD:1604824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8780512	Igsf9b	immunoglobulin superfamily member 9B	gene	DOID:4362	cervical cancer		ISO	RGD:1604824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8780512	Igsf9b	immunoglobulin superfamily member 9B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604824	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8780512	Igsf9b	immunoglobulin superfamily member 9B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780512	Igsf9b	immunoglobulin superfamily member 9B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8780512	Igsf9b	immunoglobulin superfamily member 9B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8780559	Rab2a	RAB2A, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780559	Rab2a	RAB2A, member RAS oncogene family	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:68446	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8780559	Rab2a	RAB2A, member RAS oncogene family	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:68446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8780559	Rab2a	RAB2A, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780559	Rab2a	RAB2A, member RAS oncogene family	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8780559	Rab2a	RAB2A, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8780559	Rab2a	RAB2A, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8780559	Rab2a	RAB2A, member RAS oncogene family	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:0050835	generalized dystonia		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized dystonia	PMID:25741868
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:0060058	lymphoma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:0111163	molybdenum cofactor deficiency type B		ISO	RGD:1318258	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group B	PMID:25741868|PMID:28492532
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:0111164	molybdenum cofactor deficiency type A		ISO	RGD:1318258	D	RGD:7240710	20180130	OMIM			
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:0111164	molybdenum cofactor deficiency type A		ISO	RGD:1318258	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MOCS1-related condition | ClinVar Annotator: match by term: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A | ClinVar Annotator: match by term: MOLYBDENUM COFACTOR DEFICIENCY, TYPE A | ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A	PMID:12754701|PMID:16021469|PMID:16199547|PMID:17576681|PMID:20573177|PMID:21031595|PMID:22403017|PMID:22494076|PMID:25741868|PMID:27289259|PMID:28274890|PMID:28492532|PMID:32014857|PMID:33840416|PMID:35192225|PMID:37789894|PMID:9536098|PMID:9731530|PMID:9921896
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:0111165	molybdenum cofactor deficiency		ISO	RGD:1318258	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:1059	intellectual disability		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:29274890|PMID:30695801
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:10907	microcephaly		ISO	RGD:1318258	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:11891227|PMID:25741868|PMID:28492532|PMID:29274890|PMID:30695801|PMID:9731530|PMID:9921896
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:1115	sarcoma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:12849	autistic disorder		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:12859	choreatic disease		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868|PMID:29274890|PMID:30695801
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:1324	lung cancer		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:14264	benign neonatal seizures		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal seizure	PMID:25741868
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:1826	epilepsy		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11891227|PMID:25741868|PMID:28492532|PMID:29274890|PMID:30695801|PMID:9921896
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:1909	melanoma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:25741868|PMID:28492532
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:3275	thymoma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318258	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:543	dystonia		ISO	RGD:1318258	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:28492532|PMID:29274890|PMID:30695801|PMID:9731530
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:630	genetic disease		ISO	RGD:1318258	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29274890|PMID:30695801|PMID:32369273|PMID:9536098|PMID:9731530|PMID:9921896
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:28492532
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:17576681|PMID:25741868|PMID:27289259|PMID:28492532|PMID:9536098|PMID:9731530|PMID:9921896
8780575	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318258	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:29274890|PMID:30695801|PMID:9731530
8780599	Lipi	lipase I	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780599	Lipi	lipase I	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8780599	Lipi	lipase I	gene	DOID:5041	esophageal cancer		ISO	RGD:1605865	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8780599	Lipi	lipase I	gene	DOID:9006599	Hypertriglyceridemia	susceptibility	ISO	RGD:1605865	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.C55Y	PMID:12719377|REF_RGD_ID:1625450
8780599	Lipi	lipase I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8780599	Lipi	lipase I	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8780599	Lipi	lipase I	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8780614	Kctd2	potassium channel tetramerization domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780614	Kctd2	potassium channel tetramerization domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1348745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8780614	Kctd2	potassium channel tetramerization domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1348745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8780614	Kctd2	potassium channel tetramerization domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348745	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8780614	Kctd2	potassium channel tetramerization domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780614	Kctd2	potassium channel tetramerization domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8780614	Kctd2	potassium channel tetramerization domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8780632	Aprt	adenine phosphoribosyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8780632	Aprt	adenine phosphoribosyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8780632	Aprt	adenine phosphoribosyltransferase	gene	DOID:0060350	adenine phosphoribosyltransferase deficiency		ISO	RGD:1317133	D	RGD:7240710	20180130	OMIM			
8780632	Aprt	adenine phosphoribosyltransferase	gene	DOID:0060350	adenine phosphoribosyltransferase deficiency		ISO	RGD:1317133	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 2,8-dihydroxyadenine urolithiasis | ClinVar Annotator: match by term: APRT DEFICIENCY | ClinVar Annotator: match by term: APRT-related condition | ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency | ClinVar Annotator: match by term: adenine phosphoribosyltransferase deficiency	PMID:11243733|PMID:1353080|PMID:15571218|PMID:17126311|PMID:17576681|PMID:1781410|PMID:19435978|PMID:1977137|PMID:20150536|PMID:21304254|PMID:2135300|PMID:21635362|PMID:22212387|PMID:22988602|PMID:23430916|PMID:24459232|PMID:24940675|PMID:24986359|PMID:25741868|PMID:25983915|PMID:25984046|PMID:26724837|PMID:27994857|PMID:28492532|PMID:28566603|PMID:28717278|PMID:30106368|PMID:30355577|PMID:30389108|PMID:30890413|PMID:30993240|PMID:31201003|PMID:31440706|PMID:31589614|PMID:33273797|PMID:33707627|PMID:34044400|PMID:34267448|PMID:34805638|PMID:3680503|PMID:40794449|PMID:7685481|PMID:7758207|PMID:7912608|PMID:9298830|PMID:9521589|PMID:9536098
8780632	Aprt	adenine phosphoribosyltransferase	gene	DOID:0080653	urolithiasis		ISO	RGD:1317133	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3876264|PMID:7766
8780632	Aprt	adenine phosphoribosyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1317133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8780632	Aprt	adenine phosphoribosyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1317133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8780632	Aprt	adenine phosphoribosyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8780632	Aprt	adenine phosphoribosyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1317133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8780632	Aprt	adenine phosphoribosyltransferase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1317133	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329
8780632	Aprt	adenine phosphoribosyltransferase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8780632	Aprt	adenine phosphoribosyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1317133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8780632	Aprt	adenine phosphoribosyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780632	Aprt	adenine phosphoribosyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1317133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8780632	Aprt	adenine phosphoribosyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8780632	Aprt	adenine phosphoribosyltransferase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1307758	D	RGD:9068941	20200609	RGD		protein:decreased activity:mammary gland (rat)	PMID:2451510|REF_RGD_ID:1599204
8780632	Aprt	adenine phosphoribosyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8780632	Aprt	adenine phosphoribosyltransferase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1317133	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17659439
8780632	Aprt	adenine phosphoribosyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:0050425	restless legs syndrome		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Restless legs	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:730953	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A	PMID:10611753|PMID:16199547|PMID:1644824|PMID:17576681|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32277047|PMID:32307099|PMID:33125268|PMID:34363016|PMID:3476488|PMID:35205249|PMID:7737999|PMID:9536098|PMID:9599222
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:730953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome	PMID:16199547|PMID:22772368|PMID:22772371|PMID:22863191|PMID:24577266|PMID:25644172|PMID:25741868|PMID:26017485|PMID:28492532|PMID:29392890|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31915033|PMID:32277047|PMID:32307099|PMID:3476488|PMID:35399906
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:22772368|PMID:24577266|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29907982|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35399906
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:0060321	umbilical hernia		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:22772368|PMID:24577266|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29907982|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35399906
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:0060468	Holt-Oram syndrome		ISO	RGD:730953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Holt-Oram syndrome	PMID:25741868|PMID:26017485|PMID:28492532
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:0061230	Camurati-Engelmann disease 2		ISO	RGD:730953	D	RGD:7240710	20250924	OMIM			
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:0061230	Camurati-Engelmann disease 2		ISO	RGD:730953	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: CAMURATI-ENGELMANN DISEASE 2 | ClinVar Annotator: match by term: TGFB2-related condition	PMID:22772368|PMID:23102774|PMID:25046559|PMID:25741868|PMID:26854089|PMID:27782106|PMID:28492532|PMID:28550590|PMID:29907982|PMID:31191903|PMID:32277047|PMID:33125268|PMID:33418956|PMID:34363016|PMID:39534309
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:0070233	Loeys-Dietz syndrome 4		ISO	RGD:730953	D	RGD:7240710	20180130	OMIM			
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:0070233	Loeys-Dietz syndrome 4		ISO	RGD:730953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LOEYS-DIETZ SYNDROME 4 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 4	PMID:16199547|PMID:17576681|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24193348|PMID:24577266|PMID:25046559|PMID:25049390|PMID:25640679|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:27782106|PMID:28492532|PMID:29392890|PMID:29907982|PMID:30071990|PMID:30675029|PMID:30739908|PMID:31915033|PMID:32154675|PMID:32277047|PMID:32307099|PMID:32897753|PMID:33125268|PMID:33418956|PMID:33824467|PMID:34008892|PMID:3476488|PMID:34916229|PMID:35205249|PMID:35399906|PMID:35753512|PMID:36517271|PMID:37823753|PMID:9536098
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:0080006	bone development disease		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9217007
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:0110106	atrial heart septal defect 1		ISO	RGD:730953	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Atrial septal defect 1	
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:10024	migraine with aura		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine with aura	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:10128	venous insufficiency		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Venous insufficiency	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:730953	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	PMID:25741868|PMID:26017485|PMID:28492532
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:1205	allergic disease		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:25741868
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:12176	goiter		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:22772368|PMID:24577266|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29907982|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35399906
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:1324	lung cancer		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:13250	diarrhea		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:730953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:25741868|PMID:26017485|PMID:28492532
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730953	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:22772368|PMID:22772371|PMID:23102774|PMID:24465802|PMID:25644172|PMID:25741868|PMID:26017485|PMID:28492532|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730953	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10611753|PMID:16199547|PMID:1644824|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32307099|PMID:3476488|PMID:7737999|PMID:9599222
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730953	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10611753|PMID:16199547|PMID:1644824|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35205249|PMID:7737999|PMID:9599222
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730953	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10611753|PMID:16199547|PMID:1644824|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25326637|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35205249|PMID:7737999|PMID:9599222
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730953	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10611753|PMID:16199547|PMID:1644824|PMID:17576681|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25326637|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35205249|PMID:7737999|PMID:9536098|PMID:9599222
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730953	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10611753|PMID:16199547|PMID:1644824|PMID:17576681|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35205249|PMID:7737999|PMID:9536098|PMID:9599222
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730953	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10611753|PMID:16199547|PMID:1644824|PMID:17576681|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25046559|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:27782106|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32277047|PMID:32307099|PMID:33125268|PMID:33418956|PMID:34363016|PMID:3476488|PMID:35205249|PMID:7737999|PMID:9536098|PMID:9599222
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730953	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10611753|PMID:16199547|PMID:1644824|PMID:17576681|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25046559|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:27782106|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31785789|PMID:31915033|PMID:32277047|PMID:32307099|PMID:33125268|PMID:33418956|PMID:34363016|PMID:3476488|PMID:35205249|PMID:7737999|PMID:9536098|PMID:9599222
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730953	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10611753|PMID:16199547|PMID:1644824|PMID:17576681|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25046559|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:27782106|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31785789|PMID:31915033|PMID:32277047|PMID:32307099|PMID:32897753|PMID:33125268|PMID:33418956|PMID:34363016|PMID:3476488|PMID:35205249|PMID:7737999|PMID:9536098|PMID:9599222
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730953	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10611753|PMID:16199547|PMID:1644824|PMID:17576681|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25046559|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:27782106|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31785789|PMID:31915033|PMID:32277047|PMID:32307099|PMID:32897753|PMID:33125268|PMID:33418956|PMID:34363016|PMID:3476488|PMID:35205249|PMID:39534309|PMID:7737999|PMID:9536098|PMID:9599222
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730953	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10611753|PMID:1644824|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:23102774|PMID:24577266|PMID:25046559|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:27782106|PMID:28492532|PMID:29392890|PMID:29510914|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31785789|PMID:31915033|PMID:32277047|PMID:32307099|PMID:32897753|PMID:33125268|PMID:33418956|PMID:3476488|PMID:35205249|PMID:35399906|PMID:37823753|PMID:7737999|PMID:9599222
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:1520	colon carcinoma		ISO	RGD:1313707	D	RGD:9068941	20200609	RGD			PMID:10416598|REF_RGD_ID:13432084
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:1520	colon carcinoma	disease_progression	ISO	RGD:730953	D	RGD:9068941	20200609	RGD			PMID:11166150|REF_RGD_ID:13432074
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:1596	depressive disorder		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:22772368|PMID:24577266|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29907982|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35399906
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:1682	congenital heart disease		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9217007
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:1686	glaucoma		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20375339
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:1790	malignant mesothelioma		ISO	RGD:730953	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:70491	D	RGD:9068941	20200609	RGD			PMID:17366323|REF_RGD_ID:2302024
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:730953	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:289	endometriosis		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:3498	pancreatic ductal adenocarcinoma	ameliorates	ISO	RGD:730953	D	RGD:9068941	20221027	RGD		protein:decreased expression:pancreas (human)	PMID:8253361|REF_RGD_ID:155630628
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:730953	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:417	autoimmune disease		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25055964
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:730953	D	RGD:9068941	20200609	RGD			PMID:30686515|REF_RGD_ID:14985228
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:5199	ureteral obstruction		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17164399
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:520	aortic disease		ISO	RGD:730953	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Familial aortopathy	
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:5637	pancreatic adenosquamous carcinoma	ameliorates	ISO	RGD:730953	D	RGD:9068941	20221027	RGD		human cells in a mouse model	PMID:21366804|REF_RGD_ID:155630611
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:57	aortic valve insufficiency		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21216836
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:5844	myocardial infarction		ISO	RGD:70491	D	RGD:9068941	20200609	RGD			PMID:14575314|REF_RGD_ID:2302107
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:630	genetic disease		ISO	RGD:730953	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:65	connective tissue disease		ISO	RGD:730953	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder | ClinVar Annotator: match by term: connective tissue disorder	PMID:25741868|PMID:28492532
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:674	cleft palate		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25450421
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730953	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:33010264
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:70491	D	RGD:9068941	20200609	RGD			PMID:15145083|REF_RGD_ID:2302103
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:22772368|PMID:24577266|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29907982|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35399906
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9000781	Cyanosis		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9217007
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9001224	Striae Distensae		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9001581	Constipation		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:70491	D	RGD:9068941	20200609	RGD			PMID:17117936|PMID:18205704|REF_RGD_ID:2292158|REF_RGD_ID:2302090
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9001611	Urogenital Abnormalities		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9217007
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9001752	Shoulder Dislocation		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Shoulder subluxation	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:70491	D	RGD:9068941	20200609	RGD		protein:decreased expression:sciatic nerve	PMID:14997937|REF_RGD_ID:2302105
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:70491	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:central nervous system	PMID:17204936|REF_RGD_ID:2302088
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9003279	Joint Dislocations		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint subluxation	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9003760	Myalgia		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:730953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:22772368|PMID:24577266|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29907982|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35399906
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9005004	Musculoskeletal Abnormalities		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9217007
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9005077	Joint Instability		ISO	RGD:730953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:22772368|PMID:24577266|PMID:25046559|PMID:25644172|PMID:25741868|PMID:27782106|PMID:28492532|PMID:29907982|PMID:31915033|PMID:32307099|PMID:33418956|PMID:3476488|PMID:35399906
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9005100	Aberrant Crypt Foci	treatment	ISO	RGD:70491	D	RGD:9068941	20200609	RGD			PMID:17293967|REF_RGD_ID:13432080
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9005640	Complete Atrioventricular Septal Defect		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complete atrioventricular canal	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:70491	D	RGD:9068941	20200609	RGD		protein:increased expression:parotid gland	PMID:17574405|REF_RGD_ID:2302087
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9006294	Congenital Limb Deformities		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9217007
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9006617	Fatigue		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9007870	Respiratory System Abnormalities		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9217007
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9217007
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:730953	D	RGD:9068941	20200609	RGD		associated with Inflammatory Bowel Diseases;DNA:hypermethylation	PMID:22532293|REF_RGD_ID:13432077
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9217007
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:730953	D	RGD:9068941	20200609	RGD			PMID:15057430|REF_RGD_ID:13432086
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:730953	D	RGD:9068941	20200609	RGD			PMID:19661324|REF_RGD_ID:13432081
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9446	cholangitis		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25055964
8780679	Tgfb2	transforming growth factor beta 2	gene	DOID:9743	diabetic neuropathy		ISO	RGD:70491	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA:increased expression:dorsal root ganglion	PMID:18406405|REF_RGD_ID:2302086
8780694	Chpf2	chondroitin polymerizing factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780694	Chpf2	chondroitin polymerizing factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8780694	Chpf2	chondroitin polymerizing factor 2	gene	DOID:1909	melanoma		ISO	RGD:1604004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8780694	Chpf2	chondroitin polymerizing factor 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8780694	Chpf2	chondroitin polymerizing factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8780694	Chpf2	chondroitin polymerizing factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780694	Chpf2	chondroitin polymerizing factor 2	gene	DOID:630	genetic disease		ISO	RGD:1604004	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8780711	Cib2	calcium and integrin binding family member 2	gene	DOID:0050439	Usher syndrome		ISO	RGD:1318655	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:24033266|PMID:25741868|PMID:26173970|PMID:26214305|PMID:26226137|PMID:26426422|PMID:26445815|PMID:26992781|PMID:28492532|PMID:28663585|PMID:29112224|PMID:30055715|PMID:30311386|PMID:34837038
8780711	Cib2	calcium and integrin binding family member 2	gene	DOID:0110505	autosomal recessive nonsyndromic deafness 48		ISO	RGD:1318655	D	RGD:7240710	20180130	OMIM			
8780711	Cib2	calcium and integrin binding family member 2	gene	DOID:0110505	autosomal recessive nonsyndromic deafness 48		ISO	RGD:1318655	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CIB2-related condition | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 48 | ClinVar Annotator: match by term: Deafness, autosomal recessive 48 | ClinVar Annotator: match by term: Usher syndrome type 1J	PMID:20301442|PMID:23023331|PMID:24033266|PMID:25741868|PMID:26173970|PMID:26226137|PMID:26445815|PMID:28492532|PMID:29112224
8780711	Cib2	calcium and integrin binding family member 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1318655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
8780711	Cib2	calcium and integrin binding family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1318655	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8780711	Cib2	calcium and integrin binding family member 2	gene	DOID:1909	melanoma		ISO	RGD:1318655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:24033266|PMID:26426422|PMID:28492532
8780711	Cib2	calcium and integrin binding family member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8780711	Cib2	calcium and integrin binding family member 2	gene	DOID:3275	thymoma		ISO	RGD:1318655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
8780711	Cib2	calcium and integrin binding family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318655	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8780711	Cib2	calcium and integrin binding family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318655	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8780711	Cib2	calcium and integrin binding family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780711	Cib2	calcium and integrin binding family member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8780711	Cib2	calcium and integrin binding family member 2	gene	DOID:630	genetic disease		ISO	RGD:1318655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8780711	Cib2	calcium and integrin binding family member 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1318655	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:26173970|PMID:28492532|PMID:28663585|PMID:2911222|PMID:29112224|PMID:30311386
8780711	Cib2	calcium and integrin binding family member 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1318655	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8780711	Cib2	calcium and integrin binding family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8780725	Mpzl2	myelin protein zero like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
8780725	Mpzl2	myelin protein zero like 2	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1316244	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness	PMID:25741868|PMID:28492532|PMID:29961571|PMID:29982980|PMID:30311386
8780725	Mpzl2	myelin protein zero like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8780725	Mpzl2	myelin protein zero like 2	gene	DOID:0111640	autosomal recessive nonsyndromic deafness 111		ISO	RGD:1316244	D	RGD:7240710	20190315	OMIM			
8780725	Mpzl2	myelin protein zero like 2	gene	DOID:0111640	autosomal recessive nonsyndromic deafness 111		ISO	RGD:1316244	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MPZL2-related condition	PMID:25741868|PMID:28492532|PMID:29961571|PMID:29982980|PMID:30311386|PMID:35599849
8780725	Mpzl2	myelin protein zero like 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1316244	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:25741868|PMID:28492532|PMID:29961571|PMID:29982980|PMID:30311386
8780725	Mpzl2	myelin protein zero like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
8780725	Mpzl2	myelin protein zero like 2	gene	DOID:1059	intellectual disability		ISO	RGD:1316244	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:29961571|PMID:30311386|PMID:32203226|PMID:39767564
8780725	Mpzl2	myelin protein zero like 2	gene	DOID:1059	intellectual disability		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:29961571|PMID:30311386|PMID:32203226|PMID:35734045|PMID:37390746|PMID:38254107|PMID:39767564
8780725	Mpzl2	myelin protein zero like 2	gene	DOID:1324	lung cancer		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
8780725	Mpzl2	myelin protein zero like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
8780725	Mpzl2	myelin protein zero like 2	gene	DOID:3275	thymoma		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8780725	Mpzl2	myelin protein zero like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
8780725	Mpzl2	myelin protein zero like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8780725	Mpzl2	myelin protein zero like 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8780725	Mpzl2	myelin protein zero like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8780725	Mpzl2	myelin protein zero like 2	gene	DOID:630	genetic disease		ISO	RGD:1316244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:38197511
8780725	Mpzl2	myelin protein zero like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8780725	Mpzl2	myelin protein zero like 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:25741868|PMID:28492532|PMID:29961571|PMID:29982980|PMID:30311386|PMID:32203226|PMID:35734045|PMID:37390746|PMID:38254107|PMID:39767564
8780725	Mpzl2	myelin protein zero like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
8780725	Mpzl2	myelin protein zero like 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:29961571|PMID:30311386|PMID:32203226|PMID:35734045|PMID:37390746|PMID:38254107|PMID:39767564
8780748	Ephb2	EPH receptor B2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780748	Ephb2	EPH receptor B2	gene	DOID:0060058	lymphoma		ISO	RGD:1605126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8780748	Ephb2	EPH receptor B2	gene	DOID:0060673	Peters anomaly		ISO	RGD:1605126	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis	PMID:26893459
8780748	Ephb2	EPH receptor B2	gene	DOID:0080600	COVID-19		ISO	RGD:1605126	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8780748	Ephb2	EPH receptor B2	gene	DOID:10127	cerebral artery occlusion	ameliorates	ISO	RGD:1617631	D	RGD:9068941	20210625	RGD			PMID:18639535|REF_RGD_ID:127285624
8780748	Ephb2	EPH receptor B2	gene	DOID:10534	stomach cancer		ISO	RGD:1605126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8780748	Ephb2	EPH receptor B2	gene	DOID:10652	Alzheimer's disease	ameliorates	ISO	RGD:1617631	D	RGD:9068941	20210625	RGD			PMID:21113149|REF_RGD_ID:12859080
8780748	Ephb2	EPH receptor B2	gene	DOID:1115	sarcoma		ISO	RGD:1605126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8780748	Ephb2	EPH receptor B2	gene	DOID:12365	malaria		ISO	RGD:1617631	D	RGD:9068941	20210625	RGD		mRNA:increased expression:liver	PMID:25784101|REF_RGD_ID:127285023
8780748	Ephb2	EPH receptor B2	gene	DOID:1324	lung cancer		ISO	RGD:1605126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8780748	Ephb2	EPH receptor B2	gene	DOID:1561	cognitive disorder		ISO	RGD:1605126	D	RGD:9068941	20210625	RGD		associated with human immunodeficiency virus infectious disease; mRNA:increased expression:Anterior cingulate	PMID:23314923|REF_RGD_ID:127285026
8780748	Ephb2	EPH receptor B2	gene	DOID:1909	melanoma		ISO	RGD:1605126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8780748	Ephb2	EPH receptor B2	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1564232	D	RGD:9068941	20210625	RGD		mRNA,protein:increased expression: cortex, cerebral cortex subventricular zone	PMID:16321245|REF_RGD_ID:1642069
8780748	Ephb2	EPH receptor B2	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:1617631	D	RGD:9068941	20210625	RGD			PMID:16321245|REF_RGD_ID:1642069
8780748	Ephb2	EPH receptor B2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605126	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8780748	Ephb2	EPH receptor B2	gene	DOID:5082	liver cirrhosis	ameliorates	ISO	RGD:1617631	D	RGD:9068941	20210625	RGD		associated with malaria;	PMID:25784101|REF_RGD_ID:127285023
8780748	Ephb2	EPH receptor B2	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1605126	D	RGD:9068941	20210625	RGD		mRNA:decreased expression:Anterior cingulate	PMID:23314923|REF_RGD_ID:127285026
8780748	Ephb2	EPH receptor B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780748	Ephb2	EPH receptor B2	gene	DOID:8577	ulcerative colitis	ameliorates	ISO	RGD:1564232	D	RGD:9068941	20210625	RGD			PMID:33722292|REF_RGD_ID:127285641
8780748	Ephb2	EPH receptor B2	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1564232	D	RGD:9068941	20210702	RGD			PMID:12944508|REF_RGD_ID:127285804
8780748	Ephb2	EPH receptor B2	gene	DOID:9000039	Spinal Cord Injuries	ameliorates	ISO	RGD:1564232	D	RGD:9068941	20210625	RGD			PMID:33794069|REF_RGD_ID:127285659
8780748	Ephb2	EPH receptor B2	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:1564232	D	RGD:9068941	20210625	RGD		mRNA,protein:increased expression:dorsal root ganglion	PMID:32149862|REF_RGD_ID:127285658
8780748	Ephb2	EPH receptor B2	gene	DOID:9001471	Anorectal Malformations		ISO	RGD:1564232	D	RGD:9068941	20210625	RGD		mRNA,protein:decreased expression:embryonic cloaca, urorectal septum	PMID:19302865|REF_RGD_ID:127285623
8780748	Ephb2	EPH receptor B2	gene	DOID:9004298	Prostate Cancer/Brain Cancer Susceptibility		ISO	RGD:1605126	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Prostate cancer/brain cancer susceptibility	PMID:25741868|PMID:28492532
8780748	Ephb2	EPH receptor B2	gene	DOID:9004298	Prostate Cancer/Brain Cancer Susceptibility	susceptibility	ISO	RGD:1605126	D	RGD:7240710	20260729	OMIM			
8780748	Ephb2	EPH receptor B2	gene	DOID:9005834	Ependymomas		ISO	RGD:1605126	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075792
8780748	Ephb2	EPH receptor B2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8780748	Ephb2	EPH receptor B2	gene	DOID:9007718	Platelet-Type Bleeding Disorder 22		ISO	RGD:1605126	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 22 | ClinVar Annotator: match by term: EPHB2-related condition	PMID:25741868|PMID:28492532
8780748	Ephb2	EPH receptor B2	gene	DOID:9007718	Platelet-Type Bleeding Disorder 22	susceptibility	ISO	RGD:1605126	D	RGD:7240710	20260729	OMIM			
8780748	Ephb2	EPH receptor B2	gene	DOID:9008452	Candidemia	exacerbates	ISO	RGD:1617631	D	RGD:9068941	20210604	RGD			PMID:33685996|REF_RGD_ID:127229905
8780748	Ephb2	EPH receptor B2	gene	DOID:9008820	Visceral Pain	ameliorates	ISO	RGD:1617631	D	RGD:9068941	20210625	RGD			PMID:33880135|REF_RGD_ID:127285657
8780748	Ephb2	EPH receptor B2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8780748	Ephb2	EPH receptor B2	gene	DOID:9778	irritable bowel syndrome		ISO	RGD:1564232	D	RGD:9068941	20210604	RGD		associated with trichuriasis;protein:increased expression:colonic muscularis:	PMID:31601124|REF_RGD_ID:127229906
8780748	Ephb2	EPH receptor B2	gene	DOID:9778	irritable bowel syndrome	ameliorates	ISO	RGD:1564232	D	RGD:9068941	20210604	RGD			PMID:31601124|REF_RGD_ID:127229906
8780783	C1s	complement C1s	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8780783	C1s	complement C1s	gene	DOID:0080939	hereditary angioedema type I		ISO	RGD:1605130	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3184114
8780783	C1s	complement C1s	gene	DOID:0080987	Ehlers-Danlos syndrome periodontal type 2		ISO	RGD:1605130	D	RGD:7240710	20190315	OMIM			
8780783	C1s	complement C1s	gene	DOID:0080987	Ehlers-Danlos syndrome periodontal type 2		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: C1S-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type, 2	PMID:25741868|PMID:27745832|PMID:28492532
8780783	C1s	complement C1s	gene	DOID:10534	stomach cancer		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8780783	C1s	complement C1s	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8780783	C1s	complement C1s	gene	DOID:1115	sarcoma		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8780783	C1s	complement C1s	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:1605130	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11390518
8780783	C1s	complement C1s	gene	DOID:417	autoimmune disease		ISO	RGD:1605130	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11390518
8780783	C1s	complement C1s	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8780783	C1s	complement C1s	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8780783	C1s	complement C1s	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780783	C1s	complement C1s	gene	DOID:6039	uveal melanoma		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8780783	C1s	complement C1s	gene	DOID:630	genetic disease		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8780783	C1s	complement C1s	gene	DOID:9003566	Mesothelioma		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8780783	C1s	complement C1s	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8780783	C1s	complement C1s	gene	DOID:9006194	Complement Component C1s Deficiency		ISO	RGD:1605130	D	RGD:7240710	20180130	OMIM			
8780783	C1s	complement C1s	gene	DOID:9006194	Complement Component C1s Deficiency		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: C1s DEFICIENCY | ClinVar Annotator: match by term: Complement 1s deficiency | ClinVar Annotator: match by term: Complement component C1s deficiency	PMID:11390518|PMID:18062908|PMID:19155518|PMID:25741868|PMID:28492532|PMID:31440263|PMID:9973493
8780783	C1s	complement C1s	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8780783	C1s	complement C1s	gene	DOID:9007355	Hashimoto Disease		ISO	RGD:1605130	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11390518
8780783	C1s	complement C1s	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:0050742	nicotine dependence		ISO	RGD:732764	D	RGD:9068941	20241107	CTD		CTD Direct Evidence: marker/mechanism	PMID:29666375
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:732764	D	RGD:9068941	20240530	RGD		DNA:missense:cds:p.T91I, p.T375I (human)	PMID:22042774|REF_RGD_ID:405849405
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:0060001	withdrawal disorder		ISO	RGD:732764	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15537871
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:11832	visual epilepsy		ISO	RGD:732764	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:14996991|PMID:15275829
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:732764	D	RGD:9068941	20211203	RGD		DNA:SNP: :rs7178270(human)	PMID:20587604|REF_RGD_ID:150527839
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:732764	D	RGD:9068941	20220225	RGD		DNA:SNP:3'utr: (rs1948)C>T (human)	PMID:29416783|REF_RGD_ID:151361155
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:1596	depressive disorder		ISO	RGD:2351	D	RGD:9068941	20220128	RGD		mRNA:decreased expression:habenula:	PMID:28420875|REF_RGD_ID:151347550
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:732764	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Chronic obstructive pulmonary disease	
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:732764	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:732764	D	RGD:9068941	20220224	RGD		mRNA:increased expression:esophagus  (human)	PMID:27610024|REF_RGD_ID:151361143
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732764	D	RGD:9068941	20211203	RGD		mRNA:increased expression:lung	PMID:20124469|REF_RGD_ID:150527851
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732764	D	RGD:9068941	20220225	RGD		DNA:hypomethylation:promoter:	PMID:22945651|REF_RGD_ID:151361154
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:3907	lung squamous cell carcinoma	susceptibility	ISO	RGD:732764	D	RGD:9068941	20220224	RGD		DNA:SNP:: (rs7178270) (human)	PMID:23397474|REF_RGD_ID:151361148
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:732764	D	RGD:9068941	20220224	RGD			PMID:25172267|REF_RGD_ID:151361147
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:732764	D	RGD:9068941	20211203	RGD		mRNA:increased expression:lung	PMID:20124469|REF_RGD_ID:150527851
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:732764	D	RGD:9068941	20220225	RGD		DNA:hypomethylation:promoter:	PMID:22945651|REF_RGD_ID:151361154
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:732764	D	RGD:9068941	20211203	RGD		mRNA:increased expression:lung	PMID:20124469|REF_RGD_ID:150527851
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:809	cocaine abuse	onset	ISO	RGD:732764	D	RGD:9068941	20211210	RGD		DNA:SNP::rs950776(human)	PMID:32841724|REF_RGD_ID:150530292
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:8618	oral cavity cancer	susceptibility	ISO	RGD:732764	D	RGD:9068941	20220128	RGD		DNA:SNP: :rs578776(human)	PMID:24505444|REF_RGD_ID:151347542
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:9004283	Transplant Rejection		ISO	RGD:2351	D	RGD:9068941	20220128	RGD			PMID:25121092|REF_RGD_ID:151347544
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:732764	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18385738
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8780799	Chrnb4	cholinergic receptor nicotinic beta 4 subunit	gene	DOID:9255	frontotemporal dementia		ISO	RGD:732764	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	
8780812	Atp2b4	ATPase plasma membrane Ca2+ transporting 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8780812	Atp2b4	ATPase plasma membrane Ca2+ transporting 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8780812	Atp2b4	ATPase plasma membrane Ca2+ transporting 4	gene	DOID:10283	prostate cancer		ISO	RGD:1348952	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8780812	Atp2b4	ATPase plasma membrane Ca2+ transporting 4	gene	DOID:10283	prostate cancer		ISO	RGD:1348952	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8780812	Atp2b4	ATPase plasma membrane Ca2+ transporting 4	gene	DOID:10534	stomach cancer		ISO	RGD:1348952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8780812	Atp2b4	ATPase plasma membrane Ca2+ transporting 4	gene	DOID:10591	pre-eclampsia		ISO	RGD:1348952	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
8780812	Atp2b4	ATPase plasma membrane Ca2+ transporting 4	gene	DOID:11714	gestational diabetes		ISO	RGD:1348952	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
8780812	Atp2b4	ATPase plasma membrane Ca2+ transporting 4	gene	DOID:3275	thymoma		ISO	RGD:1348952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8780812	Atp2b4	ATPase plasma membrane Ca2+ transporting 4	gene	DOID:4362	cervical cancer		ISO	RGD:1348952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8780812	Atp2b4	ATPase plasma membrane Ca2+ transporting 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8780812	Atp2b4	ATPase plasma membrane Ca2+ transporting 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1348952	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8780812	Atp2b4	ATPase plasma membrane Ca2+ transporting 4	gene	DOID:543	dystonia		ISO	RGD:621305	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebellar cortex	PMID:17092653|REF_RGD_ID:1599351
8780812	Atp2b4	ATPase plasma membrane Ca2+ transporting 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8780812	Atp2b4	ATPase plasma membrane Ca2+ transporting 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8780812	Atp2b4	ATPase plasma membrane Ca2+ transporting 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1348952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8780812	Atp2b4	ATPase plasma membrane Ca2+ transporting 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1348952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8780812	Atp2b4	ATPase plasma membrane Ca2+ transporting 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8780812	Atp2b4	ATPase plasma membrane Ca2+ transporting 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8780842	Orm1	orosomucoid 1	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1351569	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:34142820
8780842	Orm1	orosomucoid 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8780842	Orm1	orosomucoid 1	gene	DOID:1324	lung cancer		ISO	RGD:1351569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8780842	Orm1	orosomucoid 1	gene	DOID:3021	acute kidney failure		ISO	RGD:1351569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
8780842	Orm1	orosomucoid 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8780842	Orm1	orosomucoid 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:67390	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:16166348|REF_RGD_ID:2316639
8780842	Orm1	orosomucoid 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1351569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8780842	Orm1	orosomucoid 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1351569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
8780842	Orm1	orosomucoid 1	gene	DOID:9007806	Drug Hypersensitivity Syndrome		ISO	RGD:1351569	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:34142820
8780842	Orm1	orosomucoid 1	gene	DOID:9007874	Liver Failure		ISO	RGD:1351569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18256743
8780852	Chd1l	chromodomain helicase DNA binding protein 1 like	gene	DOID:10534	stomach cancer		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8780852	Chd1l	chromodomain helicase DNA binding protein 1 like	gene	DOID:10983	Alport syndrome		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alport syndrome	PMID:27657687
8780852	Chd1l	chromodomain helicase DNA binding protein 1 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
8780852	Chd1l	chromodomain helicase DNA binding protein 1 like	gene	DOID:1115	sarcoma		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
8780852	Chd1l	chromodomain helicase DNA binding protein 1 like	gene	DOID:1324	lung cancer		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8780852	Chd1l	chromodomain helicase DNA binding protein 1 like	gene	DOID:1612	breast cancer		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
8780852	Chd1l	chromodomain helicase DNA binding protein 1 like	gene	DOID:18	urinary system disease		ISO	RGD:1323647	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormality of the urinary system	
8780852	Chd1l	chromodomain helicase DNA binding protein 1 like	gene	DOID:1909	melanoma		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
8780852	Chd1l	chromodomain helicase DNA binding protein 1 like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
8780852	Chd1l	chromodomain helicase DNA binding protein 1 like	gene	DOID:2394	ovarian cancer		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8780852	Chd1l	chromodomain helicase DNA binding protein 1 like	gene	DOID:303	substance-related disorder		ISO	RGD:1323647	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8780852	Chd1l	chromodomain helicase DNA binding protein 1 like	gene	DOID:3275	thymoma		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
8780852	Chd1l	chromodomain helicase DNA binding protein 1 like	gene	DOID:4362	cervical cancer		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8780852	Chd1l	chromodomain helicase DNA binding protein 1 like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
8780852	Chd1l	chromodomain helicase DNA binding protein 1 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1323647	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8780852	Chd1l	chromodomain helicase DNA binding protein 1 like	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1323647	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
8780852	Chd1l	chromodomain helicase DNA binding protein 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8780852	Chd1l	chromodomain helicase DNA binding protein 1 like	gene	DOID:6039	uveal melanoma		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:28492532
8780852	Chd1l	chromodomain helicase DNA binding protein 1 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
8780852	Chd1l	chromodomain helicase DNA binding protein 1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8780852	Chd1l	chromodomain helicase DNA binding protein 1 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8780887	Lmod2	leiomodin 2	gene	DOID:0081163	dilated cardiomyopathy 2G		ISO	RGD:1603238	D	RGD:7240710	20220608	OMIM			
8780887	Lmod2	leiomodin 2	gene	DOID:0081163	dilated cardiomyopathy 2G		ISO	RGD:1603238	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 2G | ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2G | ClinVar Annotator: match by term: LMOD2-related condition	PMID:25741868|PMID:34888509|PMID:38748723
8780887	Lmod2	leiomodin 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1557393	D	RGD:9068941	20220825	MouseDO			
8780887	Lmod2	leiomodin 2	gene	DOID:1909	melanoma		ISO	RGD:1603238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8780887	Lmod2	leiomodin 2	gene	DOID:630	genetic disease		ISO	RGD:1603238	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8780899	Aff1	ALF transcription elongation factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8780899	Aff1	ALF transcription elongation factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780899	Aff1	ALF transcription elongation factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8780899	Aff1	ALF transcription elongation factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8780899	Aff1	ALF transcription elongation factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8780899	Aff1	ALF transcription elongation factor 1	gene	DOID:1909	melanoma		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8780899	Aff1	ALF transcription elongation factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8780899	Aff1	ALF transcription elongation factor 1	gene	DOID:3275	thymoma		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8780899	Aff1	ALF transcription elongation factor 1	gene	DOID:3307	teratoma		ISO	RGD:1317426	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
8780899	Aff1	ALF transcription elongation factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8780899	Aff1	ALF transcription elongation factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8780899	Aff1	ALF transcription elongation factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780899	Aff1	ALF transcription elongation factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8780899	Aff1	ALF transcription elongation factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8780899	Aff1	ALF transcription elongation factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8780899	Aff1	ALF transcription elongation factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8780925	Ces4a	carboxylesterase 4A	gene	DOID:10534	stomach cancer		ISO	RGD:1602823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8780925	Ces4a	carboxylesterase 4A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8780925	Ces4a	carboxylesterase 4A	gene	DOID:1324	lung cancer		ISO	RGD:1602823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8780925	Ces4a	carboxylesterase 4A	gene	DOID:1909	melanoma		ISO	RGD:1602823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8780925	Ces4a	carboxylesterase 4A	gene	DOID:3275	thymoma		ISO	RGD:1602823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8780925	Ces4a	carboxylesterase 4A	gene	DOID:4362	cervical cancer		ISO	RGD:1602823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8780925	Ces4a	carboxylesterase 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780925	Ces4a	carboxylesterase 4A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8780945	Ro60	Ro60, Y RNA binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8780945	Ro60	Ro60, Y RNA binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780945	Ro60	Ro60, Y RNA binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1312904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8780945	Ro60	Ro60, Y RNA binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1312904	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8780945	Ro60	Ro60, Y RNA binding protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8780945	Ro60	Ro60, Y RNA binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780945	Ro60	Ro60, Y RNA binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8780945	Ro60	Ro60, Y RNA binding protein	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1624075	D	RGD:9068941	20220825	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
8780958	Dpm2	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8780958	Dpm2	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	gene	DOID:0080571	congenital disorder of glycosylation Iu		ISO	RGD:736541	D	RGD:7240710	20180130	OMIM			
8780958	Dpm2	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	gene	DOID:0080571	congenital disorder of glycosylation Iu		ISO	RGD:736541	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu | ClinVar Annotator: match by term: DPM2-related condition	PMID:23109149|PMID:25741868|PMID:28492532|PMID:33129689
8780958	Dpm2	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	gene	DOID:1909	melanoma		ISO	RGD:736541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8780958	Dpm2	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	gene	DOID:3275	thymoma		ISO	RGD:736541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8780958	Dpm2	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780958	Dpm2	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8780968	Umps	uridine monophosphate synthetase	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1323612	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	
8780968	Umps	uridine monophosphate synthetase	gene	DOID:0050833	orotic aciduria		ISO	RGD:1323612	D	RGD:7240710	20180130	OMIM			
8780968	Umps	uridine monophosphate synthetase	gene	DOID:0050833	orotic aciduria		ISO	RGD:1323612	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary orotic aciduria | ClinVar Annotator: match by term: Hereditary orotic aciduria, type 1 | ClinVar Annotator: match by term: OROTIC ACIDURIA | ClinVar Annotator: match by term: Orotic aciduria | ClinVar Annotator: match by term: Oroticaciduria 1 | ClinVar Annotator: match by term: UMPS-related condition	PMID:16199547|PMID:25741868|PMID:25757096|PMID:28205048|PMID:28263315|PMID:28492532
8780968	Umps	uridine monophosphate synthetase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8780968	Umps	uridine monophosphate synthetase	gene	DOID:0080916	erythroleukemia		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:38827
8780968	Umps	uridine monophosphate synthetase	gene	DOID:10923	sickle cell anemia		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:38827
8780968	Umps	uridine monophosphate synthetase	gene	DOID:10965	spastic diplegia		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:25741868|PMID:28492532
8780968	Umps	uridine monophosphate synthetase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8780968	Umps	uridine monophosphate synthetase	gene	DOID:12241	beta thalassemia		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:38827
8780968	Umps	uridine monophosphate synthetase	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:38827
8780968	Umps	uridine monophosphate synthetase	gene	DOID:1342	congenital hypoplastic anemia		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:38827
8780968	Umps	uridine monophosphate synthetase	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16757204
8780968	Umps	uridine monophosphate synthetase	gene	DOID:1826	epilepsy		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8780968	Umps	uridine monophosphate synthetase	gene	DOID:1827	generalized epilepsy		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868|PMID:28492532
8780968	Umps	uridine monophosphate synthetase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780968	Umps	uridine monophosphate synthetase	gene	DOID:630	genetic disease		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8780968	Umps	uridine monophosphate synthetase	gene	DOID:653	purine-pyrimidine metabolic disorder		ISO	RGD:1323612	D	RGD:9068941	20200609	RGD		orotic aciduria	PMID:9042911|REF_RGD_ID:1599702
8780968	Umps	uridine monophosphate synthetase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18230555
8780968	Umps	uridine monophosphate synthetase	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16912530|PMID:17089033|PMID:18652704
8780968	Umps	uridine monophosphate synthetase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15999119|PMID:19082440
8780968	Umps	uridine monophosphate synthetase	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18652704
8780968	Umps	uridine monophosphate synthetase	gene	DOID:9004507	Hirsutism		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868|PMID:28492532
8780968	Umps	uridine monophosphate synthetase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
8780968	Umps	uridine monophosphate synthetase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1311908	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver (rat)	PMID:3907307|REF_RGD_ID:5132278
8780968	Umps	uridine monophosphate synthetase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1311908	D	RGD:9068941	20200609	RGD		protein:decreased activity:mammary gland (rat)	PMID:1476792|REF_RGD_ID:5132591
8780968	Umps	uridine monophosphate synthetase	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1323612	D	RGD:9068941	20220616	RGD		DNA:SNP:cds:rs2279199|rs4678145 (human)	PMID:28347776|REF_RGD_ID:152995291
8780968	Umps	uridine monophosphate synthetase	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16757204
8780968	Umps	uridine monophosphate synthetase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8780968	Umps	uridine monophosphate synthetase	gene	DOID:9008120	Orotic Aciduria II		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orotidylic decarboxylase deficiency	PMID:25741868|PMID:28492532
8780968	Umps	uridine monophosphate synthetase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15814641|PMID:19020767
8780968	Umps	uridine monophosphate synthetase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19020767|PMID:19151563
8780968	Umps	uridine monophosphate synthetase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8780981	Psmg1	proteasome assembly chaperone 1	gene	DOID:1324	lung cancer		ISO	RGD:1313491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8780981	Psmg1	proteasome assembly chaperone 1	gene	DOID:3275	thymoma		ISO	RGD:1313491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8780981	Psmg1	proteasome assembly chaperone 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8780981	Psmg1	proteasome assembly chaperone 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8780981	Psmg1	proteasome assembly chaperone 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8780981	Psmg1	proteasome assembly chaperone 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:1313491	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20228799
8780981	Psmg1	proteasome assembly chaperone 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8781001	Rab19	RAB19, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8781001	Rab19	RAB19, member RAS oncogene family	gene	DOID:11193	syndactyly		ISO	RGD:1604143	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Non-syndromic syndactyly	PMID:25741868
8781001	Rab19	RAB19, member RAS oncogene family	gene	DOID:1909	melanoma		ISO	RGD:1604143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8781001	Rab19	RAB19, member RAS oncogene family	gene	DOID:3275	thymoma		ISO	RGD:1604143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8781001	Rab19	RAB19, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781001	Rab19	RAB19, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8781009	Tceal8	transcription elongation factor A like 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8781009	Tceal8	transcription elongation factor A like 8	gene	DOID:12849	autistic disorder		ISO	RGD:14351525	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:21681106|PMID:30208311
8781009	Tceal8	transcription elongation factor A like 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:11870	Pick's disease		ISO	RGD:732805	D	RGD:9068941	20200609	RGD			PMID:12392790|REF_RGD_ID:7495833
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:1205	allergic disease		ISO	RGD:732805	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21544193
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:3275	thymoma		ISO	RGD:732805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:397	restrictive cardiomyopathy		ISO	RGD:732805	D	RGD:9068941	20200609	RGD			PMID:11593045|REF_RGD_ID:1302548
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:4001	ovarian carcinoma	disease_progression	ISO	RGD:732805	D	RGD:9068941	20200609	RGD		expression inhibits metastatic colonization of secondary sites by cancer cells in the SKOV3ip.1 cell line model system	PMID:16489030|REF_RGD_ID:2293338
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:4362	cervical cancer		ISO	RGD:732805	D	RGD:9068941	20200609	RGD			PMID:20980434|REF_RGD_ID:7495806
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:678	progressive supranuclear palsy		ISO	RGD:732805	D	RGD:9068941	20200609	RGD			PMID:12392790|REF_RGD_ID:7495833
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:8634	prostate carcinoma in situ	disease_progression	ISO	RGD:732805	D	RGD:9068941	20200609	RGD		protein:increased expression	PMID:17577251|REF_RGD_ID:2293334
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:9000197	Edema		ISO	RGD:732805	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21544193
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1313499	D	RGD:9068941	20200609	RGD			PMID:17016428|REF_RGD_ID:7495832
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:9000774	Brain Death		ISO	RGD:620666	D	RGD:9068941	20200609	RGD			PMID:23157661|REF_RGD_ID:7495829
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1552419	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001)	PMID:17577251|REF_RGD_ID:2293334
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732805	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001)	PMID:17577251|REF_RGD_ID:2293334
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732805	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32512071
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:9002304	Prostatic Neoplasms	no_association	ISO	RGD:732805	D	RGD:9068941	20200609	RGD		expression has no effect on metastatic colonization of secondary sites by cancer cells in the AT6.1 model system	PMID:16322247|REF_RGD_ID:2293337
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:732805	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15037631
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1552419	D	RGD:9068941	20200609	RGD			PMID:12750397|PMID:15722372|REF_RGD_ID:13782145|REF_RGD_ID:1582275
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620666	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney, glomerulus	PMID:11473637|REF_RGD_ID:7495813
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1552419	D	RGD:9068941	20200609	RGD			PMID:14749328|REF_RGD_ID:7495840
8781027	Map2k6	mitogen-activated protein kinase kinase 6	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:732805	D	RGD:9068941	20200609	RGD			PMID:15492008|REF_RGD_ID:1582277
8781043	Amotl2	angiomotin like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8781043	Amotl2	angiomotin like 2	gene	DOID:10534	stomach cancer		ISO	RGD:737053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8781043	Amotl2	angiomotin like 2	gene	DOID:2394	ovarian cancer		ISO	RGD:737053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8781043	Amotl2	angiomotin like 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:737053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8781043	Amotl2	angiomotin like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781043	Amotl2	angiomotin like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8781061	Qdpr	quinoid dihydropteridine reductase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8781061	Qdpr	quinoid dihydropteridine reductase	gene	DOID:0081130	BH4-deficient hyperphenylalaninemia C		ISO	RGD:734380	D	RGD:7240710	20180130	OMIM			
8781061	Qdpr	quinoid dihydropteridine reductase	gene	DOID:0081130	BH4-deficient hyperphenylalaninemia C		ISO	RGD:734380	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dihydropteridine reductase deficiency | ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C | ClinVar Annotator: match by term: QDPR DEFICIENCY	PMID:10408783|PMID:11153907|PMID:11694255|PMID:1283784|PMID:16199547|PMID:16917893|PMID:17188538|PMID:17576681|PMID:18060820|PMID:18425437|PMID:19099731|PMID:21890392|PMID:23138986|PMID:24033266|PMID:25124972|PMID:25155776|PMID:25741868|PMID:26006720|PMID:26589311|PMID:27243974|PMID:27246466|PMID:28492532|PMID:29499199|PMID:29594647|PMID:30109838|PMID:30221392|PMID:3099067|PMID:32905092|PMID:33822819|PMID:33903016|PMID:33977029|PMID:34214291|PMID:34485013|PMID:34997870|PMID:36313470|PMID:36382472|PMID:36646061|PMID:37818795|PMID:39346013|PMID:40336053|PMID:40598568|PMID:7627180|PMID:7783174|PMID:8304097|PMID:8326489|PMID:8518287|PMID:9341885|PMID:9536098|PMID:9744478
8781061	Qdpr	quinoid dihydropteridine reductase	gene	DOID:10534	stomach cancer		ISO	RGD:734380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8781061	Qdpr	quinoid dihydropteridine reductase	gene	DOID:10763	hypertension		ISO	RGD:619915	D	RGD:9068941	20200609	RGD		protein:decreased expression:aorta smooth muscle (rat)	PMID:19743417|REF_RGD_ID:5128580
8781061	Qdpr	quinoid dihydropteridine reductase	gene	DOID:1324	lung cancer		ISO	RGD:734380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8781061	Qdpr	quinoid dihydropteridine reductase	gene	DOID:1824	status epilepticus		ISO	RGD:619915	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus (rat)	PMID:17366478|REF_RGD_ID:5128581
8781061	Qdpr	quinoid dihydropteridine reductase	gene	DOID:3275	thymoma		ISO	RGD:734380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8781061	Qdpr	quinoid dihydropteridine reductase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8781061	Qdpr	quinoid dihydropteridine reductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781061	Qdpr	quinoid dihydropteridine reductase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8781061	Qdpr	quinoid dihydropteridine reductase	gene	DOID:630	genetic disease		ISO	RGD:734380	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8781061	Qdpr	quinoid dihydropteridine reductase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8781061	Qdpr	quinoid dihydropteridine reductase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:734380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8781061	Qdpr	quinoid dihydropteridine reductase	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:734380	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:35172013
8781061	Qdpr	quinoid dihydropteridine reductase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:619915	D	RGD:9068941	20200609	RGD		protein:decreased activity:brain (rat)	PMID:2758679|REF_RGD_ID:5128601
8781061	Qdpr	quinoid dihydropteridine reductase	gene	DOID:9008914	Lead Poisoning		ISO	RGD:619915	D	RGD:9068941	20200609	RGD		protein:increased activity:brain, caudate nucleus (rat)	PMID:2359144|REF_RGD_ID:5128598
8781061	Qdpr	quinoid dihydropteridine reductase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8781061	Qdpr	quinoid dihydropteridine reductase	gene	DOID:9256	colorectal cancer		ISO	RGD:734380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:10408783|PMID:11153907|PMID:16199547|PMID:25741868|PMID:28492532|PMID:32905092|PMID:7627180|PMID:9744478
8781061	Qdpr	quinoid dihydropteridine reductase	gene	DOID:9281	phenylketonuria		ISO	RGD:734380	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Phenylketonuria type 2	PMID:10408783|PMID:11153907|PMID:16199547|PMID:25155776|PMID:25741868|PMID:27246466|PMID:28492532|PMID:32905092|PMID:33903016|PMID:37818795|PMID:7627180|PMID:9744478
8781071	CUNH15orf61	chromosome unknown C15orf61 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2302457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8781077	Elavl3	ELAV like RNA binding protein 3	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1343972	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8781077	Elavl3	ELAV like RNA binding protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1343972	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8781077	Elavl3	ELAV like RNA binding protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8781097	Foxj1	forkhead box J1	gene	DOID:0050144	Kartagener syndrome		ISO	RGD:732359	D	RGD:9068941	20220825	MouseDO			
8781097	Foxj1	forkhead box J1	gene	DOID:0111856	primary ciliary dyskinesia 43		ISO	RGD:732358	D	RGD:7240710	20200101	OMIM			
8781097	Foxj1	forkhead box J1	gene	DOID:0111856	primary ciliary dyskinesia 43		ISO	RGD:732358	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 43, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 43 | ClinVar Annotator: match by term: FOXJ1-related disorder	PMID:25741868|PMID:31630787|PMID:33077954|PMID:34132502|PMID:37692537|PMID:37813609
8781097	Foxj1	forkhead box J1	gene	DOID:1682	congenital heart disease		ISO	RGD:732359	D	RGD:9068941	20231116	MouseDO			
8781097	Foxj1	forkhead box J1	gene	DOID:4362	cervical cancer		ISO	RGD:732358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8781097	Foxj1	forkhead box J1	gene	DOID:630	genetic disease		ISO	RGD:732358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8781105	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:11586916|RGD:11587381|RGD:11597548|RGD:11603717|RGD:11607344|RGD:11607661|RGD:11607998|RGD:11610868|RGD:11611006|RGD:11652628|RGD:11656384|RGD:11659874|RGD:11662401|RGD:11664065	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young	
8781105	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:0111109	maturity-onset diabetes of the young type 11		ISO	RGD:1318874	D	RGD:7240710	20180130	OMIM			
8781105	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:0111109	maturity-onset diabetes of the young type 11		ISO	RGD:1318874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BLK-related condition | ClinVar Annotator: match by term: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11 | ClinVar Annotator: match by term: MODY11 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 11	PMID:18204098|PMID:19667185|PMID:24023612|PMID:25741868|PMID:28095440|PMID:28492532|PMID:30191644|PMID:31101814|PMID:31670388|PMID:32313195
8781105	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:1324	lung cancer		ISO	RGD:1318874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8781105	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:13378	Kawasaki disease		ISO	RGD:1318874	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22446961
8781105	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:150333719	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:32748548
8781105	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:1318874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16199547|PMID:28492532
8781105	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1318874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8781105	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1318874	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20453842|PMID:23143596
8781105	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8781105	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1308859	D	RGD:9068941	20200609	RGD		mRNA:increased expression:left ventricle (rat)	PMID:17562528|REF_RGD_ID:1642307
8781105	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1318874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Systemic lupus erythematosus	PMID:18204098|PMID:19667185|PMID:24023612|PMID:25741868|PMID:28492532|PMID:31101814|PMID:31670388|PMID:32313195
8781105	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:9351	diabetes mellitus		ISO	RGD:1318874	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes | ClinVar Annotator: match by term: monogenic diabetes	PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532
8781154	Unc119	unc-119 lipid binding chaperone	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8781154	Unc119	unc-119 lipid binding chaperone	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1343859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:24033266|PMID:25741868|PMID:28492532
8781154	Unc119	unc-119 lipid binding chaperone	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8781154	Unc119	unc-119 lipid binding chaperone	gene	DOID:0081449	cone-rod dystrophy 24		ISO	RGD:1343859	D	RGD:7240710	20230505	OMIM			
8781154	Unc119	unc-119 lipid binding chaperone	gene	DOID:0081449	cone-rod dystrophy 24		ISO	RGD:1343859	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 24 | ClinVar Annotator: match by term: Cone-rod dystrophy 24	PMID:11006213|PMID:25741868|PMID:26992781|PMID:28492532
8781154	Unc119	unc-119 lipid binding chaperone	gene	DOID:0111987	immunodeficiency 13		ISO	RGD:1343859	D	RGD:7240710	20200826	OMIM			
8781154	Unc119	unc-119 lipid binding chaperone	gene	DOID:0111987	immunodeficiency 13		ISO	RGD:1343859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: UNC119-related condition	PMID:25741868|PMID:28005958|PMID:28492532
8781154	Unc119	unc-119 lipid binding chaperone	gene	DOID:10534	stomach cancer		ISO	RGD:1343859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stomach cancer	
8781154	Unc119	unc-119 lipid binding chaperone	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1343859	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11006213
8781154	Unc119	unc-119 lipid binding chaperone	gene	DOID:3070	high grade glioma		ISO	RGD:1343859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8781154	Unc119	unc-119 lipid binding chaperone	gene	DOID:3109	idiopathic CD4-positive T-lymphocytopenia		ISO	RGD:1343859	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	
8781154	Unc119	unc-119 lipid binding chaperone	gene	DOID:4362	cervical cancer		ISO	RGD:1343859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8781154	Unc119	unc-119 lipid binding chaperone	gene	DOID:5041	esophageal cancer		ISO	RGD:1343859	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8781154	Unc119	unc-119 lipid binding chaperone	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781154	Unc119	unc-119 lipid binding chaperone	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8781168	Evl	Enah/Vasp-like	gene	DOID:10534	stomach cancer		ISO	RGD:1605079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8781168	Evl	Enah/Vasp-like	gene	DOID:1115	sarcoma		ISO	RGD:1605079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8781168	Evl	Enah/Vasp-like	gene	DOID:4362	cervical cancer		ISO	RGD:1605079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8781168	Evl	Enah/Vasp-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1605079	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8781168	Evl	Enah/Vasp-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781168	Evl	Enah/Vasp-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8781168	Evl	Enah/Vasp-like	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1605079	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500|PMID:21278247
8781168	Evl	Enah/Vasp-like	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1605079	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
8781211	Oip5	Opa interacting protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8781211	Oip5	Opa interacting protein 5	gene	DOID:10534	stomach cancer		ISO	RGD:1345771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8781211	Oip5	Opa interacting protein 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8781211	Oip5	Opa interacting protein 5	gene	DOID:1324	lung cancer		ISO	RGD:1345771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8781211	Oip5	Opa interacting protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8781257	Ssbp4	single stranded DNA binding protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8781257	Ssbp4	single stranded DNA binding protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1350792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8781257	Ssbp4	single stranded DNA binding protein 4	gene	DOID:3275	thymoma		ISO	RGD:1350792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8781257	Ssbp4	single stranded DNA binding protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1350792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8781257	Ssbp4	single stranded DNA binding protein 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8781257	Ssbp4	single stranded DNA binding protein 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8781257	Ssbp4	single stranded DNA binding protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781257	Ssbp4	single stranded DNA binding protein 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8781257	Ssbp4	single stranded DNA binding protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:0050459	hyperphosphatemia		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperphosphatemia	PMID:25741868
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:1074	kidney failure		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:25741868
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:10907	microcephaly		ISO	RGD:1353956	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:1115	sarcoma		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:11714	gestational diabetes		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:25741868
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:11782	astigmatism		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:14755	argininosuccinic aciduria		ISO	RGD:1353956	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Argininosuccinate lyase deficiency	PMID:25741868|PMID:28492532|PMID:30569574|PMID:34627339|PMID:35234134
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:1920	hyperuricemia		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperuricemia	PMID:25741868
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:3275	thymoma		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:4362	cervical cancer		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:6225	Cronkhite-Canada syndrome		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intestinal polyposis	PMID:25741868
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:630	genetic disease		ISO	RGD:1353956	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:783	end stage renal disease		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:25741868
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:8577	ulcerative colitis		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ulcerative colitis	PMID:25741868
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intrauterine growth retardation	PMID:25741868|PMID:28492532|PMID:30569574|PMID:34627339|PMID:35234134
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:9003030	Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis		ISO	RGD:1353956	D	RGD:7240710	20180130	OMIM			
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:9003030	Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis		ISO	RGD:1353956	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: POC1A-related condition | ClinVar Annotator: match by term: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	PMID:25741868|PMID:28492532
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:9006743	Spasm		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:25741868
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:9007571	Hyperlipoproteinemias		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipoproteinemia	PMID:25741868
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:9007661	Dwarfism		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:9008682	Velopharyngeal Insufficiency		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Velopharyngeal insufficiency	PMID:25741868
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:9009050	Hypocalcemia		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	PMID:25741868
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:9351	diabetes mellitus		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:25741868
8781275	Poc1a	POC1 centriolar protein A	gene	DOID:9970	obesity		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
8781290	Cltcl1	clathrin heavy chain like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:22511880|PMID:25741868
8781290	Cltcl1	clathrin heavy chain like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8781290	Cltcl1	clathrin heavy chain like 1	gene	DOID:0080600	COVID-19		ISO	RGD:1350184	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8781290	Cltcl1	clathrin heavy chain like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1350184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:22511880|PMID:25741868
8781290	Cltcl1	clathrin heavy chain like 1	gene	DOID:1115	sarcoma		ISO	RGD:1350184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:22511880|PMID:25741868
8781290	Cltcl1	clathrin heavy chain like 1	gene	DOID:1909	melanoma		ISO	RGD:1350184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:22511880|PMID:25741868
8781290	Cltcl1	clathrin heavy chain like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:22511880|PMID:25741868
8781290	Cltcl1	clathrin heavy chain like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1350184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:22511880|PMID:25741868
8781290	Cltcl1	clathrin heavy chain like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8781290	Cltcl1	clathrin heavy chain like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350184	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:22511880|PMID:25741868
8781290	Cltcl1	clathrin heavy chain like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:22511880|PMID:25741868
8781290	Cltcl1	clathrin heavy chain like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:22511880|PMID:25741868
8781290	Cltcl1	clathrin heavy chain like 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1350184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:22511880|PMID:25741868
8781290	Cltcl1	clathrin heavy chain like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8781290	Cltcl1	clathrin heavy chain like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8781290	Cltcl1	clathrin heavy chain like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:22511880|PMID:25741868
8781290	Cltcl1	clathrin heavy chain like 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1350184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:22511880|PMID:25741868
8781338	Nup43	nucleoporin 43	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8781338	Nup43	nucleoporin 43	gene	DOID:4362	cervical cancer		ISO	RGD:1605529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8781338	Nup43	nucleoporin 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781338	Nup43	nucleoporin 43	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8781338	Nup43	nucleoporin 43	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8781350	Rras	RAS related	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1322910	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26457647
8781350	Rras	RAS related	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8781350	Rras	RAS related	gene	DOID:0080600	COVID-19		ISO	RGD:1322910	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8781350	Rras	RAS related	gene	DOID:10534	stomach cancer		ISO	RGD:1322910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8781350	Rras	RAS related	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8781350	Rras	RAS related	gene	DOID:3490	Noonan syndrome		ISO	RGD:1322910	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome	PMID:17576681|PMID:24033266|PMID:24705357|PMID:25741868|PMID:28492532|PMID:28875981|PMID:9536098
8781350	Rras	RAS related	gene	DOID:3490	Noonan syndrome		ISO	RGD:1322910	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome	PMID:17576681|PMID:24033266|PMID:24705357|PMID:25741868|PMID:28492532|PMID:28875981|PMID:33057194|PMID:9536098
8781350	Rras	RAS related	gene	DOID:3490	Noonan syndrome		ISO	RGD:1322910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome	PMID:17576681|PMID:24033266|PMID:24705357|PMID:25741868|PMID:28492532|PMID:33057194|PMID:9536098
8781350	Rras	RAS related	gene	DOID:5041	esophageal cancer		ISO	RGD:1322910	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8781350	Rras	RAS related	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8781350	Rras	RAS related	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1322910	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8781350	Rras	RAS related	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8781372	Chadl	chondroadherin like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2292054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8781372	Chadl	chondroadherin like	gene	DOID:3275	thymoma		ISO	RGD:2292054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8781372	Chadl	chondroadherin like	gene	DOID:5041	esophageal cancer		ISO	RGD:2292054	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8781372	Chadl	chondroadherin like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2292054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8781372	Chadl	chondroadherin like	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:2292054	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28319091|PMID:30374069
8781372	Chadl	chondroadherin like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2292054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8781407	Depp1	DEPP autophagy regulator 1	gene	DOID:0080600	COVID-19		ISO	RGD:1352536	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8781407	Depp1	DEPP autophagy regulator 1	gene	DOID:289	endometriosis		ISO	RGD:1352536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
8781407	Depp1	DEPP autophagy regulator 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1352536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037
8781407	Depp1	DEPP autophagy regulator 1	gene	DOID:9455	lipid storage disease		ISO	RGD:1352536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15342952|PMID:16919414|PMID:17175557
8781413	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8781413	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8781413	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:0060358	multiple acyl-CoA dehydrogenase deficiency		ISO	RGD:1347524	D	RGD:7240710	20180130	OMIM			
8781413	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:0060358	multiple acyl-CoA dehydrogenase deficiency		ISO	RGD:1347524	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLUTARIC ACIDEMIA IIB | ClinVar Annotator: match by term: Glutaric acidemia IIC | ClinVar Annotator: match by term: Glutaric acidemia IIb | ClinVar Annotator: match by term: Glutaric acidemia type 2 | ClinVar Annotator: match by term: Glutaric aciduria, type 2 | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	PMID:12706375|PMID:12815589|PMID:16199547|PMID:16510302|PMID:17576681|PMID:17638024|PMID:18289905|PMID:19088074|PMID:19763152|PMID:20307669|PMID:20674745|PMID:22406018|PMID:22588007|PMID:23785301|PMID:24033266|PMID:24215330|PMID:25741868|PMID:28454995|PMID:28492532|PMID:30626930|PMID:31418342|PMID:31589614|PMID:32778825|PMID:35095998|PMID:36964972|PMID:37344829|PMID:7912128|PMID:9536098
8781413	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:1324	lung cancer		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8781413	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:4362	cervical cancer		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8781413	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
8781413	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8781413	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:630	genetic disease		ISO	RGD:1347524	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24215330|PMID:25741868|PMID:28492532
8781413	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:784	chronic kidney disease		ISO	RGD:1347524	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:24215330|PMID:25741868|PMID:28492532
8781413	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
8781413	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8781423	Cxxc5	CXXC finger protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781443	Vps35	VPS35 retromer complex component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8781443	Vps35	VPS35 retromer complex component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8781443	Vps35	VPS35 retromer complex component	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:1350372	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Parkinson disease, late-onset	
8781443	Vps35	VPS35 retromer complex component	gene	DOID:0060897	Parkinson's disease 17		ISO	RGD:1350372	D	RGD:7240710	20180130	OMIM			
8781443	Vps35	VPS35 retromer complex component	gene	DOID:0060897	Parkinson's disease 17		ISO	RGD:1350372	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Parkinson disease 17 | ClinVar Annotator: match by term: VPS35-related condition	PMID:17576681|PMID:21763482|PMID:21763483|PMID:22154191|PMID:22801713|PMID:22991136|PMID:23125461|PMID:23411763|PMID:24740878|PMID:25288323|PMID:25741868|PMID:26251041|PMID:28492532|PMID:28862745|PMID:31996268|PMID:32171587|PMID:32613234|PMID:37256495|PMID:37750340|PMID:9536098
8781443	Vps35	VPS35 retromer complex component	gene	DOID:0080855	Parkinsonism		ISO	RGD:1350372	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:21763482|PMID:21763483|PMID:22154191|PMID:22801713|PMID:22991136|PMID:23411763|PMID:24740878|PMID:25741868|PMID:28492532
8781443	Vps35	VPS35 retromer complex component	gene	DOID:1115	sarcoma		ISO	RGD:1350372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8781443	Vps35	VPS35 retromer complex component	gene	DOID:1324	lung cancer		ISO	RGD:1350372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8781443	Vps35	VPS35 retromer complex component	gene	DOID:14330	Parkinson's disease		ISO	RGD:1350372	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Parkinson disease	PMID:25741868|PMID:28492532
8781443	Vps35	VPS35 retromer complex component	gene	DOID:1909	melanoma		ISO	RGD:1350372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8781443	Vps35	VPS35 retromer complex component	gene	DOID:3275	thymoma		ISO	RGD:1350372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8781443	Vps35	VPS35 retromer complex component	gene	DOID:4362	cervical cancer		ISO	RGD:1350372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8781443	Vps35	VPS35 retromer complex component	gene	DOID:5041	esophageal cancer		ISO	RGD:1350372	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8781443	Vps35	VPS35 retromer complex component	gene	DOID:5419	schizophrenia		ISO	RGD:1350372	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
8781443	Vps35	VPS35 retromer complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781443	Vps35	VPS35 retromer complex component	gene	DOID:6039	uveal melanoma		ISO	RGD:1350372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
8781443	Vps35	VPS35 retromer complex component	gene	DOID:630	genetic disease		ISO	RGD:1350372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8781443	Vps35	VPS35 retromer complex component	gene	DOID:9000495	Tremor		ISO	RGD:1350372	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:21763482|PMID:21763483|PMID:22154191|PMID:22801713|PMID:22991136|PMID:23411763|PMID:24740878|PMID:25741868|PMID:28492532
8781443	Vps35	VPS35 retromer complex component	gene	DOID:9000831	Hypokinesia		ISO	RGD:1350372	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bradykinesia	PMID:21763482|PMID:21763483|PMID:22154191|PMID:22801713|PMID:22991136|PMID:23411763|PMID:24740878|PMID:25741868|PMID:28492532
8781443	Vps35	VPS35 retromer complex component	gene	DOID:9001480	Muscle Rigidity		ISO	RGD:1350372	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cogwheel rigidity	PMID:21763482|PMID:21763483|PMID:22154191|PMID:22801713|PMID:22991136|PMID:23411763|PMID:24740878|PMID:25741868|PMID:28492532
8781443	Vps35	VPS35 retromer complex component	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1350372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8781443	Vps35	VPS35 retromer complex component	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1350372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:25741868|PMID:28492532
8781443	Vps35	VPS35 retromer complex component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8781443	Vps35	VPS35 retromer complex component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8781469	Cd27	CD27 molecule	gene	DOID:0060708	lymphoproliferative syndrome 2		ISO	RGD:1353701	D	RGD:7240710	20180130	OMIM			
8781469	Cd27	CD27 molecule	gene	DOID:0060708	lymphoproliferative syndrome 2		ISO	RGD:1353701	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Lymphoproliferative syndrome 2	PMID:16199547|PMID:25640679|PMID:25843314|PMID:28492532
8781469	Cd27	CD27 molecule	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:1560499	D	RGD:9068941	20200609	RGD			PMID:16698589|REF_RGD_ID:1581860
8781469	Cd27	CD27 molecule	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1353701	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12031769
8781469	Cd27	CD27 molecule	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1353701	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:25741868|PMID:28492532
8781469	Cd27	CD27 molecule	gene	DOID:820	myocarditis		ISO	RGD:1353701	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12031769
8781469	Cd27	CD27 molecule	gene	DOID:9007346	Cachexia		ISO	RGD:1353701	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17878525
8781469	Cd27	CD27 molecule	gene	DOID:934	viral infectious disease		ISO	RGD:1353701	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12031769
8781482	Ddx55	DEAD-box helicase 55	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8781482	Ddx55	DEAD-box helicase 55	gene	DOID:10534	stomach cancer		ISO	RGD:1323439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8781482	Ddx55	DEAD-box helicase 55	gene	DOID:1324	lung cancer		ISO	RGD:1323439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8781482	Ddx55	DEAD-box helicase 55	gene	DOID:1909	melanoma		ISO	RGD:1323439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8781482	Ddx55	DEAD-box helicase 55	gene	DOID:5041	esophageal cancer		ISO	RGD:1323439	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8781482	Ddx55	DEAD-box helicase 55	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781482	Ddx55	DEAD-box helicase 55	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8781482	Ddx55	DEAD-box helicase 55	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8781482	Ddx55	DEAD-box helicase 55	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8781482	Ddx55	DEAD-box helicase 55	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8781509	Slc38a7	solute carrier family 38 member 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8781509	Slc38a7	solute carrier family 38 member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8781509	Slc38a7	solute carrier family 38 member 7	gene	DOID:0080600	COVID-19		ISO	RGD:1602480	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8781509	Slc38a7	solute carrier family 38 member 7	gene	DOID:10534	stomach cancer		ISO	RGD:1602480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8781509	Slc38a7	solute carrier family 38 member 7	gene	DOID:3275	thymoma		ISO	RGD:1602480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8781509	Slc38a7	solute carrier family 38 member 7	gene	DOID:4362	cervical cancer		ISO	RGD:1602480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8781509	Slc38a7	solute carrier family 38 member 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8781509	Slc38a7	solute carrier family 38 member 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1602480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8781509	Slc38a7	solute carrier family 38 member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781509	Slc38a7	solute carrier family 38 member 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8781509	Slc38a7	solute carrier family 38 member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8781509	Slc38a7	solute carrier family 38 member 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8781536	Tacstd2	tumor associated calcium signal transducer 2	gene	DOID:0060449	gelatinous drop-like corneal dystrophy		ISO	RGD:1342963	D	RGD:7240710	20180130	OMIM			
8781536	Tacstd2	tumor associated calcium signal transducer 2	gene	DOID:0060449	gelatinous drop-like corneal dystrophy		ISO	RGD:1342963	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GELATINOUS DROP-LIKE CORNEAL DYSTROPHY | ClinVar Annotator: match by term: TACSTD2-related condition	PMID:28492532
8781536	Tacstd2	tumor associated calcium signal transducer 2	gene	DOID:2566	corneal dystrophy		ISO	RGD:1342963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corneal dystrophy	PMID:17167402|PMID:25741868
8781536	Tacstd2	tumor associated calcium signal transducer 2	gene	DOID:289	endometriosis		ISO	RGD:1342963	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
8781536	Tacstd2	tumor associated calcium signal transducer 2	gene	DOID:9000343	Vision Disorders		ISO	RGD:1342963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:17167402|PMID:25741868
8781536	Tacstd2	tumor associated calcium signal transducer 2	gene	DOID:9003137	Photophobia		ISO	RGD:1342963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Photophobia	PMID:17167402|PMID:25741868
8781541	Crebl2	cAMP responsive element binding protein like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8781541	Crebl2	cAMP responsive element binding protein like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8781541	Crebl2	cAMP responsive element binding protein like 2	gene	DOID:3070	high grade glioma		ISO	RGD:1319876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8781541	Crebl2	cAMP responsive element binding protein like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8781541	Crebl2	cAMP responsive element binding protein like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8781554	Tmem186	transmembrane protein 186	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8781554	Tmem186	transmembrane protein 186	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8781554	Tmem186	transmembrane protein 186	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8781554	Tmem186	transmembrane protein 186	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:0040083	Chlamydia pneumonia		ISO	RGD:731346	D	RGD:9068941	20251108	RGD		mRNA:increased expression:lung (mouse)	PMID:31249813|REF_RGD_ID:39938856
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:0040084	Streptococcus pneumonia		ISO	RGD:731346	D	RGD:9068941	20201015	RGD		mRNA:increased expression:lung (mouse)	PMID:20385761|REF_RGD_ID:39938865
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:0050120	hemophagocytic lymphohistiocytosis		ISO	RGD:731346	D	RGD:9068941	20201015	RGD			PMID:26914138|REF_RGD_ID:11529541
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:0050211	swine influenza		ISO	RGD:731346	D	RGD:9068941	20201029	RGD			PMID:24799604|REF_RGD_ID:39939082
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:0050211	swine influenza	disease_progression	ISO	RGD:731346	D	RGD:9068941	20201029	RGD			PMID:23785507|REF_RGD_ID:39939079
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1346818	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:35687267
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:731346	D	RGD:9068941	20220825	MouseDO		OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592	
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:11263	chlamydia	treatment	ISO	RGD:1346818	D	RGD:9068941	20200807	RGD			PMID:30832593|REF_RGD_ID:38455984
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:12205	dengue disease	treatment	ISO	RGD:1346818	D	RGD:9068941	20201029	RGD			PMID:31821895|REF_RGD_ID:39939074
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:12385	shigellosis	treatment	ISO	RGD:731346	D	RGD:9068941	20201022	RGD			PMID:30615126|REF_RGD_ID:39938959
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:12662	paracoccidioidomycosis		ISO	RGD:731346	D	RGD:9068941	20201029	RGD		mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse)	PMID:27992577|REF_RGD_ID:39939072
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1346818	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16365156
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:14115	toxic shock syndrome	severity	ISO	RGD:1346818	D	RGD:9068941	20201029	RGD		protein:increased activity, increased expression:plasma, heart (human)	PMID:21765346|REF_RGD_ID:39939075
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:1909	melanoma		ISO	RGD:1346818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:2122	pneumonic tularemia		ISO	RGD:731346	D	RGD:9068941	20201015	RGD			PMID:20385761|REF_RGD_ID:39938865
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:2272	vulvovaginal candidiasis		ISO	RGD:731346	D	RGD:9068941	20201015	RGD			PMID:23853597|REF_RGD_ID:39938863
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:289	endometriosis		ISO	RGD:1346818	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:2957	pulmonary tuberculosis	treatment	ISO	RGD:1346818	D	RGD:9068941	20201029	RGD			PMID:32369456|REF_RGD_ID:39939073
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:3275	thymoma		ISO	RGD:1346818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346818	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:635	acquired immunodeficiency syndrome		ISO	RGD:1346818	D	RGD:9068941	20201029	RGD		associated with pulmonary tuberculosis;protein:increased expression:blood (human)	PMID:32369456|REF_RGD_ID:39939073
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:646	viral encephalitis		ISO	RGD:731346	D	RGD:9068941	20201023	RGD			PMID:30770561|REF_RGD_ID:39939045
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:731346	D	RGD:9068941	20201015	RGD			PMID:26914138|REF_RGD_ID:11529541
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:9000113	Pneumococcal Meningitis	treatment	ISO	RGD:731346	D	RGD:9068941	20201029	RGD			PMID:24844751|REF_RGD_ID:39939118
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:9000469	Viral Myocarditis		ISO	RGD:731346	D	RGD:9068941	20201023	RGD			PMID:31416389|REF_RGD_ID:39939047
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731346	D	RGD:9068941	20201023	RGD			PMID:28465467|REF_RGD_ID:39939037
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:9001573	Experimental Liver Cirrhosis	severity	ISO	RGD:731346	D	RGD:9068941	20201023	RGD		protein:increased expression:serum (mouse)	PMID:28465467|REF_RGD_ID:39939037
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:731346	D	RGD:9068941	20201029	RGD		associated with Pneumococcal Meningitis	PMID:24844751|REF_RGD_ID:39939118
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1346818	D	RGD:9068941	20201029	RGD		mRNA, protein:increased expression, increased activity:monocytes,myeloid dendritic cells,serum (human)	PMID:25605587|REF_RGD_ID:39939081
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:731346	D	RGD:9068941	20201015	RGD			PMID:25114116|REF_RGD_ID:39938864
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:731346	D	RGD:9068941	20201022	RGD			PMID:25278421|REF_RGD_ID:39939031
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:9004657	Weight Gain		ISO	RGD:1346818	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27020609
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1346818	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18925433
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:9005099	Salmonella Infections, Animal	susceptibility	ISO	RGD:731346	D	RGD:9068941	20201022	RGD			PMID:24930766|REF_RGD_ID:39939032
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:9005106	Animal Toxoplasmosis		ISO	RGD:731346	D	RGD:9068941	20201023	RGD			PMID:31231617|REF_RGD_ID:39939039
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:9005372	Inflammation		ISO	RGD:1346818	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16365156
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:731346	D	RGD:9068941	20201029	RGD			PMID:24930766|PMID:28077574|REF_RGD_ID:39939032|REF_RGD_ID:39939117
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1346818	D	RGD:9068941	20201022	RGD		protein:increased expression:serum (human)	PMID:28465467|REF_RGD_ID:39939037
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1346818	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18925433
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:9123	eczema herpeticum	severity	ISO	RGD:1346818	D	RGD:9068941	20201022	RGD		associated with atopic dermatitis; protein:increased activity:serum (human)	PMID:26198597|REF_RGD_ID:11528429
8781560	Ido1	indoleamine 2,3-dioxygenase 1	gene	DOID:9970	obesity		ISO	RGD:1346818	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27020609
8781574	Mroh9	maestro heat like repeat family member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8781574	Mroh9	maestro heat like repeat family member 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8781574	Mroh9	maestro heat like repeat family member 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1602210	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8781574	Mroh9	maestro heat like repeat family member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781574	Mroh9	maestro heat like repeat family member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8781574	Mroh9	maestro heat like repeat family member 9	gene	DOID:9256	colorectal cancer		ISO	RGD:1602210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8781613	Znf470	zinc finger protein 470	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8781613	Znf470	zinc finger protein 470	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781628	Knstrn	kinetochore localized astrin (SPAG5) binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8781628	Knstrn	kinetochore localized astrin (SPAG5) binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8781628	Knstrn	kinetochore localized astrin (SPAG5) binding protein	gene	DOID:0080600	COVID-19		ISO	RGD:1344647	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8781628	Knstrn	kinetochore localized astrin (SPAG5) binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1344647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8781628	Knstrn	kinetochore localized astrin (SPAG5) binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1344647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8781628	Knstrn	kinetochore localized astrin (SPAG5) binding protein	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1344647	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25194279
8781628	Knstrn	kinetochore localized astrin (SPAG5) binding protein	gene	DOID:3070	high grade glioma		ISO	RGD:1344647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8781628	Knstrn	kinetochore localized astrin (SPAG5) binding protein	gene	DOID:3151	skin squamous cell carcinoma		ISO	RGD:1344647	D	RGD:9068941	20200609	RGD		DNA:mutation:cds: p.Ala40Glu (human)	PMID:30972880|REF_RGD_ID:28867225
8781628	Knstrn	kinetochore localized astrin (SPAG5) binding protein	gene	DOID:3151	skin squamous cell carcinoma		ISO	RGD:1344647	D	RGD:9068941	20200609	RGD		DNA:mutation:cds: p.Ser24Phe(human)	PMID:25194279|REF_RGD_ID:28867226
8781628	Knstrn	kinetochore localized astrin (SPAG5) binding protein	gene	DOID:3275	thymoma		ISO	RGD:1344647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8781628	Knstrn	kinetochore localized astrin (SPAG5) binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781628	Knstrn	kinetochore localized astrin (SPAG5) binding protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8781628	Knstrn	kinetochore localized astrin (SPAG5) binding protein	gene	DOID:8866	actinic keratosis	severity	ISO	RGD:1344647	D	RGD:9068941	20200609	RGD		DNA:mutation:cds: p.Ala40Glu (human)	PMID:30972880|REF_RGD_ID:28867225
8781628	Knstrn	kinetochore localized astrin (SPAG5) binding protein	gene	DOID:9000886	Roifman-Chitayat Syndrome		ISO	RGD:1344647	D	RGD:7240710	20210505	OMIM			
8781628	Knstrn	kinetochore localized astrin (SPAG5) binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8781628	Knstrn	kinetochore localized astrin (SPAG5) binding protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1344647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:0080828	VEXAS syndrome		ISO	RGD:1604847	D	RGD:7240710	20201202	OMIM			
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:0080828	VEXAS syndrome		ISO	RGD:1604847	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: VEXAS syndrome	PMID:16199547|PMID:25741868|PMID:28492532|PMID:33108101|PMID:33690815|PMID:33789873|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:36038944|PMID:36662445|PMID:40373178
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:0111827	X-linked spinal muscular atrophy 2		ISO	RGD:1604847	D	RGD:7240710	20180130	OMIM			
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:0111827	X-linked spinal muscular atrophy 2		ISO	RGD:1604847	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, X-LINKED 2 | ClinVar Annotator: match by term: Spinal Muscular Atrophy, X-Linked Infantile | ClinVar Annotator: match by term: Spinal muscular atrophy, X-linked 2 | ClinVar Annotator: match by term: UBA1-related disorder	PMID:16199547|PMID:17576681|PMID:18179898|PMID:20301739|PMID:25075304|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29034082|PMID:32181232|PMID:33108101|PMID:33369814|PMID:33690815|PMID:33789873|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:36038944|PMID:36662445|PMID:40373178|PMID:9536098
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:1115	sarcoma		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:1324	lung cancer		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:1558	angioedema		ISO	RGD:1604847	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Angioedema	PMID:25741868|PMID:28492532|PMID:33108101|PMID:33789873|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:36038944|PMID:36662445
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1604847	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:28492532|PMID:33108101|PMID:33789873|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:36038944|PMID:36662445
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1604847	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19014429
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:1909	melanoma		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:2361	macrocytic anemia		ISO	RGD:1604847	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocytic anemia	PMID:25741868|PMID:28492532|PMID:33108101|PMID:33789873|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:36038944|PMID:36662445
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:3070	high grade glioma		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:3275	thymoma		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604847	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:630	genetic disease		ISO	RGD:1604847	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33108101|PMID:33789873|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:36038944|PMID:36662445
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:9000972	Fever		ISO	RGD:1604847	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fever	PMID:25741868|PMID:28492532|PMID:33108101|PMID:33789873|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:36038944|PMID:36662445
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:9006065	Arthralgia		ISO	RGD:1604847	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:25741868|PMID:28492532|PMID:33108101|PMID:33789873|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:36038944|PMID:36662445
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8781642	Uba1	ubiquitin like modifier activating enzyme 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8781690	Gsdme	gasdermin E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8781690	Gsdme	gasdermin E	gene	DOID:0110575	autosomal dominant nonsyndromic deafness 5		ISO	RGD:1349553	D	RGD:7240710	20180130	OMIM			
8781690	Gsdme	gasdermin E	gene	DOID:0110575	autosomal dominant nonsyndromic deafness 5		ISO	RGD:1349553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 5 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: GSDME-related condition	PMID:15173223|PMID:17576681|PMID:17868390|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29266521|PMID:29849037|PMID:34906502|PMID:35114279|PMID:9536098
8781690	Gsdme	gasdermin E	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1349553	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
8781690	Gsdme	gasdermin E	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8781690	Gsdme	gasdermin E	gene	DOID:1115	sarcoma		ISO	RGD:1349553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8781690	Gsdme	gasdermin E	gene	DOID:1324	lung cancer		ISO	RGD:1349553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8781690	Gsdme	gasdermin E	gene	DOID:1909	melanoma		ISO	RGD:1349553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8781690	Gsdme	gasdermin E	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8781690	Gsdme	gasdermin E	gene	DOID:3070	high grade glioma		ISO	RGD:1349553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8781690	Gsdme	gasdermin E	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1349553	D	RGD:9068941	20250911	RGD		mRNA:increased expression:lung (human)	PMID:36505798|REF_RGD_ID:626467896
8781690	Gsdme	gasdermin E	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8781690	Gsdme	gasdermin E	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8781690	Gsdme	gasdermin E	gene	DOID:630	genetic disease		ISO	RGD:1349553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28492532
8781690	Gsdme	gasdermin E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8781690	Gsdme	gasdermin E	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1349553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17379860
8781690	Gsdme	gasdermin E	gene	DOID:9004538	Hearing Loss		ISO	RGD:11590997|RGD:11608136|RGD:11635749|RGD:11644979|RGD:11647725|RGD:11651769|RGD:11666891	D	RGD:9068941	20260709	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed	
8781690	Gsdme	gasdermin E	gene	DOID:9004538	Hearing Loss		ISO	RGD:1349553	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:21782914
8781707	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:0050768	mitochondrial complex V (ATP synthase) deficiency nuclear type 1		ISO	RGD:1313025	D	RGD:7240710	20180130	OMIM			
8781707	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:0050768	mitochondrial complex V (ATP synthase) deficiency nuclear type 1		ISO	RGD:1313025	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATPAF2-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE | ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662
8781707	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8781707	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	
8781707	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8781707	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:1059	intellectual disability		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8781707	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:10907	microcephaly		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662
8781707	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8781707	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	
8781707	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:1826	epilepsy		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662
8781707	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662
8781707	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:3275	thymoma		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
8781707	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781707	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
8781707	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662
8781707	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8781707	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:9007373	Left Ventricular Outflow Obstruction		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular outflow tract obstruction	
8781707	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662
8781707	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:930	orbital disease		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662
8781719	Mrgprf	MAS related GPR family member F	gene	DOID:10534	stomach cancer		ISO	RGD:1346995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8781719	Mrgprf	MAS related GPR family member F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781719	Mrgprf	MAS related GPR family member F	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8781748	Serpinb2	serpin family B member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8781748	Serpinb2	serpin family B member 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1343432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21664615
8781748	Serpinb2	serpin family B member 2	gene	DOID:1909	melanoma		ISO	RGD:1343432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8781748	Serpinb2	serpin family B member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8781748	Serpinb2	serpin family B member 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8781748	Serpinb2	serpin family B member 2	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1343432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21245421
8781748	Serpinb2	serpin family B member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781748	Serpinb2	serpin family B member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8781748	Serpinb2	serpin family B member 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1343432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
8781748	Serpinb2	serpin family B member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8781748	Serpinb2	serpin family B member 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1343432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037
8781748	Serpinb2	serpin family B member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8781760	Kcne2	potassium voltage-gated channel subfamily E regulatory subunit 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:731917	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:15368194
8781760	Kcne2	potassium voltage-gated channel subfamily E regulatory subunit 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:731917	D	RGD:9068941	20250724	RGD			PMID:15368194|REF_RGD_ID:1580501
8781760	Kcne2	potassium voltage-gated channel subfamily E regulatory subunit 2	gene	DOID:0110648	long QT syndrome 6		ISO	RGD:731917	D	RGD:7240710	20180130	OMIM			
8781760	Kcne2	potassium voltage-gated channel subfamily E regulatory subunit 2	gene	DOID:0110648	long QT syndrome 6		ISO	RGD:731917	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 6	PMID:28492532
8781760	Kcne2	potassium voltage-gated channel subfamily E regulatory subunit 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:13211148	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy	
8781760	Kcne2	potassium voltage-gated channel subfamily E regulatory subunit 2	gene	DOID:2843	long QT syndrome		ISO	RGD:731917	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated	PMID:10219239|PMID:10220144|PMID:10984545|PMID:11468227|PMID:12185453|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15599693|PMID:15840476|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17275752|PMID:18006462|PMID:19716085|PMID:20042375|PMID:20817017|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24403551|PMID:24606995|PMID:24631775|PMID:25333069|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26633542|PMID:27435932|PMID:27650965|PMID:27920829|PMID:28166811|PMID:28492532|PMID:28600387|PMID:28794082|PMID:30986657|PMID:31535183
8781760	Kcne2	potassium voltage-gated channel subfamily E regulatory subunit 2	gene	DOID:2843	long QT syndrome		ISO	RGD:731917	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated	PMID:10219239|PMID:10220144|PMID:10984545|PMID:11468227|PMID:12185453|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15368194|PMID:15599693|PMID:15840476|PMID:15913580|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17275752|PMID:18006462|PMID:19716085|PMID:20042375|PMID:20817017|PMID:22166675|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23465283|PMID:23631430|PMID:23631727|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24403551|PMID:24569893|PMID:24631775|PMID:24796621|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26123744|PMID:26159999|PMID:26220970|PMID:26633542|PMID:26859003|PMID:27435932|PMID:27465075|PMID:27650965|PMID:27920829|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29661707|PMID:29805884|PMID:30847666|PMID:30986657|PMID:31447099|PMID:31535183|PMID:31589614|PMID:32268277
8781760	Kcne2	potassium voltage-gated channel subfamily E regulatory subunit 2	gene	DOID:2843	long QT syndrome		ISO	RGD:731917	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated	PMID:10219239|PMID:10220144|PMID:10984545|PMID:11468227|PMID:12185453|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15368194|PMID:15599693|PMID:15840476|PMID:15913580|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17275752|PMID:18006462|PMID:19219384|PMID:19716085|PMID:20042375|PMID:20817017|PMID:22166675|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23465283|PMID:23631430|PMID:23631727|PMID:23861362|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24403551|PMID:24569893|PMID:24606995|PMID:24631775|PMID:24796621|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26123744|PMID:26159999|PMID:26220970|PMID:26633542|PMID:26859003|PMID:27435932|PMID:27465075|PMID:27650965|PMID:27920829|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29661707|PMID:29805884|PMID:30847666|PMID:30986657|PMID:31235733|PMID:31447099|PMID:31535183|PMID:31589614|PMID:31737537|PMID:32268277|PMID:33626434
8781760	Kcne2	potassium voltage-gated channel subfamily E regulatory subunit 2	gene	DOID:3393	coronary artery disease		ISO	RGD:731917	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:34961328
8781760	Kcne2	potassium voltage-gated channel subfamily E regulatory subunit 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:621383	D	RGD:9068941	20250724	RGD		associated with Myocardial Infarction	PMID:20381460|REF_RGD_ID:7242918
8781760	Kcne2	potassium voltage-gated channel subfamily E regulatory subunit 2	gene	DOID:9000184	Ventricular Fibrillation		ISO	RGD:731917	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10219239
8781760	Kcne2	potassium voltage-gated channel subfamily E regulatory subunit 2	gene	DOID:9005392	Familial Atrial Fibrillation 4		ISO	RGD:731917	D	RGD:7240710	20180130	OMIM			
8781760	Kcne2	potassium voltage-gated channel subfamily E regulatory subunit 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:621383	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:left heart ventricle	PMID:19267230|REF_RGD_ID:7243942
8781796	Rpl26l1	ribosomal protein L26 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8781796	Rpl26l1	ribosomal protein L26 like 1	gene	DOID:0080600	COVID-19		ISO	RGD:1352940	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8781796	Rpl26l1	ribosomal protein L26 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8781796	Rpl26l1	ribosomal protein L26 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781796	Rpl26l1	ribosomal protein L26 like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8781796	Rpl26l1	ribosomal protein L26 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8781796	Rpl26l1	ribosomal protein L26 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352940	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8781804	Ifng	interferon gamma	gene	DOID:0040084	Streptococcus pneumonia		ISO	RGD:737488	D	RGD:9068941	20201117	RGD		protein:increased expression:lung,natural killer cell (mouse)	PMID:21887255|REF_RGD_ID:40818252
8781804	Ifng	interferon gamma	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25811541
8781804	Ifng	interferon gamma	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23962110
8781804	Ifng	interferon gamma	gene	DOID:0050523	adult T-cell leukemia/lymphoma	treatment	ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:8800741|REF_RGD_ID:10755707
8781804	Ifng	interferon gamma	gene	DOID:0050589	inflammatory bowel disease	treatment	ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:31062617|REF_RGD_ID:14975125
8781804	Ifng	interferon gamma	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737488	D	RGD:9068941	20240425	MouseDO			
8781804	Ifng	interferon gamma	gene	DOID:0050855	renal fibrosis	no_association	ISO	RGD:2866	D	RGD:9068941	20200609	RGD			PMID:8289579|REF_RGD_ID:10755751
8781804	Ifng	interferon gamma	gene	DOID:0050855	renal fibrosis	treatment	ISO	RGD:2866	D	RGD:9068941	20200609	RGD			PMID:10594787|REF_RGD_ID:10755746
8781804	Ifng	interferon gamma	gene	DOID:0050865	tongue squamous cell carcinoma	disease_progression	ISO	RGD:2866	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:17338814|REF_RGD_ID:8662972
8781804	Ifng	interferon gamma	gene	DOID:0050902	medulloblastoma		ISO	RGD:737488	D	RGD:9068941	20240425	MouseDO		OMIM:155255	
8781804	Ifng	interferon gamma	gene	DOID:0051061	stroke		ISO	RGD:737487	D	RGD:9068941	20230225	RGD		mRNA:decreased expression:lymphocyte	PMID:31465536|REF_RGD_ID:156430320
8781804	Ifng	interferon gamma	gene	DOID:0051065	chronic pancreatitis	disease_progression	ISO	RGD:2866	D	RGD:9068941	20200609	RGD			PMID:11345142|REF_RGD_ID:10755767
8781804	Ifng	interferon gamma	gene	DOID:0060180	colitis		ISO	RGD:732457	D	RGD:9068941	20220114	RGD			PMID:16717119|REF_RGD_ID:150573704
8781804	Ifng	interferon gamma	gene	DOID:0060180	colitis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24548422
8781804	Ifng	interferon gamma	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22617429
8781804	Ifng	interferon gamma	gene	DOID:0060319	cardiac arrest		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9806674
8781804	Ifng	interferon gamma	gene	DOID:0060704	lymphoproliferative syndrome		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22617429
8781804	Ifng	interferon gamma	gene	DOID:0080074	neural tube defect		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17075842
8781804	Ifng	interferon gamma	gene	DOID:0080158	herpes simplex virus keratitis		ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:12162877|REF_RGD_ID:8157603
8781804	Ifng	interferon gamma	gene	DOID:0080162	lupus nephritis		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		protein:increased expression:serum,urine	PMID:22764573|REF_RGD_ID:6893369
8781804	Ifng	interferon gamma	gene	DOID:0080162	lupus nephritis		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		protein:increased processing:kidney	PMID:29925830|REF_RGD_ID:14974252
8781804	Ifng	interferon gamma	gene	DOID:0080162	lupus nephritis		ISO	RGD:737487	D	RGD:9068941	20220210	CTD		CTD Direct Evidence: marker/mechanism	PMID:31182691
8781804	Ifng	interferon gamma	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:732457	D	RGD:9068941	20220114	RGD			PMID:16717119|REF_RGD_ID:150573704
8781804	Ifng	interferon gamma	gene	DOID:0080325	tuberous sclerosis 2		ISO	RGD:737487	D	RGD:7240710	20180130	OMIM			
8781804	Ifng	interferon gamma	gene	DOID:0080545	hyper IgE syndrome		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16112032
8781804	Ifng	interferon gamma	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	ameliorates	ISO	RGD:737488	D	RGD:9068941	20210702	RGD			PMID:28100771|REF_RGD_ID:127285675
8781804	Ifng	interferon gamma	gene	DOID:0080599	Coronavirus infectious disease		ISO	RGD:737488	D	RGD:9068941	20200618	RGD			PMID:19906920|REF_RGD_ID:4891446
8781804	Ifng	interferon gamma	gene	DOID:0080600	COVID-19		ISO	RGD:737487	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8781804	Ifng	interferon gamma	gene	DOID:0080600	COVID-19		ISO	RGD:737487	D	RGD:9068941	20200820	RGD		protein:increased expression:plasma (human)	PMID:32696007|REF_RGD_ID:38501088
8781804	Ifng	interferon gamma	gene	DOID:0080600	COVID-19	severity	ISO	RGD:737487	D	RGD:9068941	20200619	RGD		protein:increased expression:plasma (human)	PMID:31986264|REF_RGD_ID:30309212
8781804	Ifng	interferon gamma	gene	DOID:0080642	Middle East respiratory syndrome	treatment	ISO	RGD:737488	D	RGD:9068941	20200625	RGD			PMID:30634407|REF_RGD_ID:30309958
8781804	Ifng	interferon gamma	gene	DOID:0080745	polymyositis		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skeletal muscle	PMID:19953283|REF_RGD_ID:7794747
8781804	Ifng	interferon gamma	gene	DOID:0081120	Graves ophthalmopathy		ISO	RGD:737487	D	RGD:9068941	20200609	RGD			PMID:8444271|REF_RGD_ID:7794734
8781804	Ifng	interferon gamma	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22077062
8781804	Ifng	interferon gamma	gene	DOID:0081267	graft-versus-host disease	susceptibility	ISO	RGD:737487	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:	PMID:16409297|REF_RGD_ID:10755684
8781804	Ifng	interferon gamma	gene	DOID:0081267	graft-versus-host disease	susceptibility	ISO	RGD:737487	D	RGD:9068941	20200609	RGD		associated with Cytomegalovirus Infections; DNA:repeats:intron:	PMID:19747638|REF_RGD_ID:10755687
8781804	Ifng	interferon gamma	gene	DOID:0112006	immunodeficiency 69		ISO	RGD:737487	D	RGD:7240710	20200812	OMIM			
8781804	Ifng	interferon gamma	gene	DOID:0112006	immunodeficiency 69		ISO	RGD:737487	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: IFNG DEFICIENCY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Immunodeficiency 69	PMID:24033266|PMID:25741868|PMID:32163377
8781804	Ifng	interferon gamma	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:737487	D	RGD:9068941	20200609	RGD			PMID:15937357|REF_RGD_ID:7987908
8781804	Ifng	interferon gamma	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		associated with Hearing Loss, Sensorineural;protein:increased expression:serum:	PMID:19684145|REF_RGD_ID:8142347
8781804	Ifng	interferon gamma	gene	DOID:10140	dry eye syndrome		ISO	RGD:737488	D	RGD:9068941	20200609	RGD		protein:increased expression:tear:	PMID:17525184|REF_RGD_ID:8157601
8781804	Ifng	interferon gamma	gene	DOID:10223	dermatomyositis		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skeletal muscle	PMID:19953283|REF_RGD_ID:7794747
8781804	Ifng	interferon gamma	gene	DOID:10457	Legionnaires' disease		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11349020
8781804	Ifng	interferon gamma	gene	DOID:10588	adrenoleukodystrophy		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16319717
8781804	Ifng	interferon gamma	gene	DOID:10608	celiac disease		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
8781804	Ifng	interferon gamma	gene	DOID:10608	celiac disease		ISO	RGD:737487	D	RGD:9068941	20200609	RGD			PMID:26440733|REF_RGD_ID:14974259
8781804	Ifng	interferon gamma	gene	DOID:1074	kidney failure		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3091246|PMID:8289579
8781804	Ifng	interferon gamma	gene	DOID:10754	otitis media		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		associated with adenoidal hypertrophy; protein:decreased expression:T cell:	PMID:18266836|REF_RGD_ID:7987910
8781804	Ifng	interferon gamma	gene	DOID:10754	otitis media		ISO	RGD:737488	D	RGD:9068941	20200609	RGD		associated with Pneumococcal infections;	PMID:16730398|REF_RGD_ID:8142343
8781804	Ifng	interferon gamma	gene	DOID:10952	nephritis		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		associated with bacterial infection;protein:increased expression:serum	PMID:22752353|REF_RGD_ID:6893461
8781804	Ifng	interferon gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:22906662|REF_RGD_ID:6893349
8781804	Ifng	interferon gamma	gene	DOID:11054	urinary bladder cancer	treatment	ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:11219496|REF_RGD_ID:8157619
8781804	Ifng	interferon gamma	gene	DOID:11077	brucellosis	treatment	ISO	RGD:737487	D	RGD:9068941	20200609	RGD			PMID:27916101|REF_RGD_ID:14974260
8781804	Ifng	interferon gamma	gene	DOID:11121	pulpitis		ISO	RGD:2866	D	RGD:9068941	20200609	RGD			PMID:12017181|REF_RGD_ID:10755771
8781804	Ifng	interferon gamma	gene	DOID:1115	sarcoma		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9794839
8781804	Ifng	interferon gamma	gene	DOID:11204	allergic conjunctivitis		ISO	RGD:2866	D	RGD:9068941	20200609	RGD			PMID:12234900|REF_RGD_ID:8142386
8781804	Ifng	interferon gamma	gene	DOID:11204	allergic conjunctivitis		ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:16123425|REF_RGD_ID:8142391
8781804	Ifng	interferon gamma	gene	DOID:11263	chlamydia		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19203382
8781804	Ifng	interferon gamma	gene	DOID:11266	Hantavirus hemorrhagic fever with renal syndrome	severity	ISO	RGD:737487	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22613426|REF_RGD_ID:6893374
8781804	Ifng	interferon gamma	gene	DOID:11406	choroiditis		ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:10227812|REF_RGD_ID:8157614
8781804	Ifng	interferon gamma	gene	DOID:11506	suppurative otitis media	disease_progression	ISO	RGD:737487	D	RGD:9068941	20200609	RGD			PMID:19640314|REF_RGD_ID:8142346
8781804	Ifng	interferon gamma	gene	DOID:12030	panuveitis		ISO	RGD:2866	D	RGD:9068941	20200609	RGD		protein:increased expression:iris neuron	PMID:9797675|REF_RGD_ID:8142379
8781804	Ifng	interferon gamma	gene	DOID:1205	allergic disease		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:10886234|PMID:21625544
8781804	Ifng	interferon gamma	gene	DOID:12134	factor VIII deficiency	treatment	ISO	RGD:737487	D	RGD:9068941	20200609	RGD		DNA:SNP: :+874 A>T (human)	PMID:25930091|REF_RGD_ID:11055683
8781804	Ifng	interferon gamma	gene	DOID:12140	Chagas disease		ISO	RGD:2866	D	RGD:9068941	20200609	RGD			PMID:10684988|REF_RGD_ID:10755744
8781804	Ifng	interferon gamma	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:737487	D	RGD:9068941	20200820	RGD		mRNA:increased expression:liver	PMID:17158635|REF_RGD_ID:38501106
8781804	Ifng	interferon gamma	gene	DOID:12297	Vogt-Koyanagi-Harada disease		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		associated with uveitis;protein:increased expression:aqueous humor:	PMID:21334264|REF_RGD_ID:8142356
8781804	Ifng	interferon gamma	gene	DOID:12306	vitiligo	onset	ISO	RGD:737487	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron:rs2430561(human)	PMID:23777204|REF_RGD_ID:8157616
8781804	Ifng	interferon gamma	gene	DOID:12306	vitiligo	susceptibility	ISO	RGD:737487	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:rs3138557(human)	PMID:23777204|REF_RGD_ID:8157616
8781804	Ifng	interferon gamma	gene	DOID:12361	Graves' disease		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:2125901|REF_RGD_ID:8142373
8781804	Ifng	interferon gamma	gene	DOID:12361	Graves' disease		ISO	RGD:737487	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:33132244
8781804	Ifng	interferon gamma	gene	DOID:12361	Graves' disease		ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:15544617|REF_RGD_ID:8157604
8781804	Ifng	interferon gamma	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:737487	D	RGD:9068941	20200609	RGD		DNA:microsatellite repeats:intron:	PMID:9848715|REF_RGD_ID:8142372
8781804	Ifng	interferon gamma	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:737487	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:+874A>T(human)	PMID:16970687|REF_RGD_ID:8157599
8781804	Ifng	interferon gamma	gene	DOID:12361	Graves' disease	treatment	ISO	RGD:737487	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:	PMID:15068623|REF_RGD_ID:8142393
8781804	Ifng	interferon gamma	gene	DOID:12365	malaria		ISO	RGD:737488	D	RGD:9068941	20220825	MouseDO		OMIM:609148 | OMIM:611162	
8781804	Ifng	interferon gamma	gene	DOID:12449	aplastic anemia		ISO	RGD:737487	D	RGD:7240710	20180130	OMIM			
8781804	Ifng	interferon gamma	gene	DOID:12449	aplastic anemia		ISO	RGD:737487	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Aplastic anemia	PMID:25741868
8781804	Ifng	interferon gamma	gene	DOID:12449	aplastic anemia	susceptibility	ISO	RGD:737487	D	RGD:9068941	20200609	RGD		DNA:polymorphism: : 874A>T(human)	PMID:18426658|REF_RGD_ID:10755710
8781804	Ifng	interferon gamma	gene	DOID:12449	aplastic anemia	susceptibility	ISO	RGD:737487	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:	PMID:15327519|REF_RGD_ID:10755688
8781804	Ifng	interferon gamma	gene	DOID:12449	aplastic anemia	treatment	ISO	RGD:737487	D	RGD:9068941	20200609	RGD		DNA:repeats,haplotype:intron: -2,353 A>T(human)	PMID:20953611|REF_RGD_ID:10755690
8781804	Ifng	interferon gamma	gene	DOID:1252	trichuriasis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864659
8781804	Ifng	interferon gamma	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:737487	D	RGD:9068941	20200609	RGD			PMID:6432389|REF_RGD_ID:8693328
8781804	Ifng	interferon gamma	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937650
8781804	Ifng	interferon gamma	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		associated with Otitis media;protein:increased expression:serum:	PMID:19352211|REF_RGD_ID:8142352
8781804	Ifng	interferon gamma	gene	DOID:12849	autistic disorder		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16360218
8781804	Ifng	interferon gamma	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:737487	D	RGD:9068941	20200609	RGD			PMID:28421993|REF_RGD_ID:14975117
8781804	Ifng	interferon gamma	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:15584966|REF_RGD_ID:8142390
8781804	Ifng	interferon gamma	gene	DOID:13141	uveitis		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		associated with Behcet's disease	PMID:29534057|REF_RGD_ID:14974251
8781804	Ifng	interferon gamma	gene	DOID:13141	uveitis		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		protein:increased expression:aqueous humor,serum	PMID:10865312|REF_RGD_ID:7365086
8781804	Ifng	interferon gamma	gene	DOID:13141	uveitis		ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:15875359|REF_RGD_ID:8142394
8781804	Ifng	interferon gamma	gene	DOID:13141	uveitis	treatment	ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:15875359|REF_RGD_ID:8142394
8781804	Ifng	interferon gamma	gene	DOID:13241	Behcet's disease		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		associated with Uveitis; protein:increased expression:aqueous humor:	PMID:21334264|REF_RGD_ID:8142356
8781804	Ifng	interferon gamma	gene	DOID:13241	Behcet's disease		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:2154346|REF_RGD_ID:8142377
8781804	Ifng	interferon gamma	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:737488	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung:	PMID:7935058|REF_RGD_ID:10755754
8781804	Ifng	interferon gamma	gene	DOID:13375	temporal arteritis	severity	ISO	RGD:737487	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:	PMID:15675129|REF_RGD_ID:8157621
8781804	Ifng	interferon gamma	gene	DOID:13515	tuberous sclerosis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16845661
8781804	Ifng	interferon gamma	gene	DOID:13636	Fanconi anemia		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:24021704|REF_RGD_ID:11049161
8781804	Ifng	interferon gamma	gene	DOID:1407	anterior uveitis		ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:10227812|REF_RGD_ID:8157614
8781804	Ifng	interferon gamma	gene	DOID:14115	toxic shock syndrome		ISO	RGD:737487	D	RGD:9068941	20200806	RGD		protein:increased expression:plasma	PMID:25403265|REF_RGD_ID:38455982
8781804	Ifng	interferon gamma	gene	DOID:14176	selective IgG deficiency disease		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:peripheral blood leukocyte:	PMID:9042436|REF_RGD_ID:10755693
8781804	Ifng	interferon gamma	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:737488	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple: Csf2,Ifng,Il3	PMID:21537082|REF_RGD_ID:5686773
8781804	Ifng	interferon gamma	gene	DOID:1459	hypothyroidism	treatment	ISO	RGD:2866	D	RGD:9068941	20200903	RGD			PMID:29896255|REF_RGD_ID:38549578
8781804	Ifng	interferon gamma	gene	DOID:1532	pleural disease		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21357438
8781804	Ifng	interferon gamma	gene	DOID:1557	hypersensitivity reaction type III disease		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1825860
8781804	Ifng	interferon gamma	gene	DOID:1562	chromoblastomycosis	treatment	ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:29481557|REF_RGD_ID:14975102
8781804	Ifng	interferon gamma	gene	DOID:1579	respiratory system disease		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937650
8781804	Ifng	interferon gamma	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:737487	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:	PMID:15900487|REF_RGD_ID:8157615
8781804	Ifng	interferon gamma	gene	DOID:1790	malignant mesothelioma		ISO	RGD:737487	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
8781804	Ifng	interferon gamma	gene	DOID:1793	pancreatic cancer		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19152246|REF_RGD_ID:2317258
8781804	Ifng	interferon gamma	gene	DOID:1883	hepatitis C		ISO	RGD:737487	D	RGD:7240710	20230505	OMIM			
8781804	Ifng	interferon gamma	gene	DOID:1883	hepatitis C		ISO	RGD:737487	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEPATITIS C VIRUS INFECTION, RESPONSE TO THERAPY OF	
8781804	Ifng	interferon gamma	gene	DOID:1884	viral hepatitis		ISO	RGD:737487	D	RGD:9068941	20200820	RGD		mRNA:increased expression:liver	PMID:17158635|REF_RGD_ID:38501106
8781804	Ifng	interferon gamma	gene	DOID:1909	melanoma		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9794839
8781804	Ifng	interferon gamma	gene	DOID:1936	atherosclerosis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9169506
8781804	Ifng	interferon gamma	gene	DOID:2043	hepatitis B		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15994231|PMID:20610715
8781804	Ifng	interferon gamma	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21227906
8781804	Ifng	interferon gamma	gene	DOID:2123	tularemia		ISO	RGD:737488	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:26853540|REF_RGD_ID:14974256
8781804	Ifng	interferon gamma	gene	DOID:2237	hepatitis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3091246
8781804	Ifng	interferon gamma	gene	DOID:2237	hepatitis		ISO	RGD:737488	D	RGD:9068941	20240425	MouseDO			
8781804	Ifng	interferon gamma	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8781804	Ifng	interferon gamma	gene	DOID:2377	multiple sclerosis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23517930
8781804	Ifng	interferon gamma	gene	DOID:2377	multiple sclerosis	susceptibility	ISO	RGD:737487	D	RGD:9068941	20200609	RGD		DNA:repeat:intron: (human)	PMID:9818947|REF_RGD_ID:1358738
8781804	Ifng	interferon gamma	gene	DOID:2556	relapsing polychondritis		ISO	RGD:737488	D	RGD:9068941	20200609	RGD		protein:increased expression:ear	PMID:17606507|REF_RGD_ID:6483833
8781804	Ifng	interferon gamma	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16137903
8781804	Ifng	interferon gamma	gene	DOID:2841	asthma		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum	PMID:20817868|REF_RGD_ID:4145651
8781804	Ifng	interferon gamma	gene	DOID:2841	asthma		ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:19542437|REF_RGD_ID:5128479
8781804	Ifng	interferon gamma	gene	DOID:2841	asthma	resistance	ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:20953328|REF_RGD_ID:4145525
8781804	Ifng	interferon gamma	gene	DOID:2841	asthma	treatment	ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:12396623|REF_RGD_ID:10755706
8781804	Ifng	interferon gamma	gene	DOID:2862	glucosephosphate dehydrogenase deficiency		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		DNA:SNP: :874A>T (human)	PMID:15718915|REF_RGD_ID:11049178
8781804	Ifng	interferon gamma	gene	DOID:289	endometriosis		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		mRNA:increased expression:colon	PMID:29477012|REF_RGD_ID:14974258
8781804	Ifng	interferon gamma	gene	DOID:2921	glomerulonephritis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1825860
8781804	Ifng	interferon gamma	gene	DOID:2921	glomerulonephritis		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		associated with kidney transplantation;mRNA:increased expression:kidney	PMID:21546865|REF_RGD_ID:6893462
8781804	Ifng	interferon gamma	gene	DOID:2921	glomerulonephritis		ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:22495297|REF_RGD_ID:6893377
8781804	Ifng	interferon gamma	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:737487	D	RGD:9068941	20200702	RGD		DNA:SNP:intron:+874A>T (rs2430561)(human)	PMID:16672072|REF_RGD_ID:32716398
8781804	Ifng	interferon gamma	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:737487	D	RGD:9068941	20200702	RGD		protein:increased expression:peripheral blood mononuclear cells (human)	PMID:16781892|PMID:17872527|PMID:19526193|REF_RGD_ID:32716396|REF_RGD_ID:32716397|REF_RGD_ID:32716400
8781804	Ifng	interferon gamma	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:737487	D	RGD:9068941	20200702	RGD		protein:increased expression:serum (human)	PMID:15602737|REF_RGD_ID:32716399
8781804	Ifng	interferon gamma	gene	DOID:2945	severe acute respiratory syndrome	susceptibility	ISO	RGD:737487	D	RGD:9068941	20200618	RGD		DNA:polymorphism:cds:+874A>T(human)	PMID:19258635|REF_RGD_ID:4891448
8781804	Ifng	interferon gamma	gene	DOID:2945	severe acute respiratory syndrome	treatment	ISO	RGD:737487	D	RGD:9068941	20200702	RGD			PMID:15865221|REF_RGD_ID:33769580
8781804	Ifng	interferon gamma	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:737487	D	RGD:9068941	20260115	RGD		DNA:SNP: :rs2430561	PMID:39260130|REF_RGD_ID:630350412
8781804	Ifng	interferon gamma	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11312644|PMID:12484431|PMID:15347381
8781804	Ifng	interferon gamma	gene	DOID:3070	high grade glioma		ISO	RGD:2866	D	RGD:9068941	20200609	RGD			PMID:10078962|REF_RGD_ID:727266
8781804	Ifng	interferon gamma	gene	DOID:3265	chronic granulomatous disease		ISO	RGD:737487	D	RGD:9068941	20200609	RGD			PMID:22883043|REF_RGD_ID:6893353
8781804	Ifng	interferon gamma	gene	DOID:3310	atopic dermatitis		ISO	RGD:737487	D	RGD:9068941	20200609	RGD			PMID:22101570|REF_RGD_ID:8157618
8781804	Ifng	interferon gamma	gene	DOID:3310	atopic dermatitis		ISO	RGD:737487	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437|PMID:33274957
8781804	Ifng	interferon gamma	gene	DOID:3492	mixed connective tissue disease		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:19684145|REF_RGD_ID:8142347
8781804	Ifng	interferon gamma	gene	DOID:3611	acute retinal necrosis syndrome		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		associated with Herpes Zoster;protein:increased expression:vitreous humor:	PMID:12928903|REF_RGD_ID:8142380
8781804	Ifng	interferon gamma	gene	DOID:399	tuberculosis		ISO	RGD:737487	D	RGD:7240710	20230505	OMIM			
8781804	Ifng	interferon gamma	gene	DOID:399	tuberculosis		ISO	RGD:737487	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYCOBACTERIUM TUBERCULOSIS, PROTECTION AGAINST	
8781804	Ifng	interferon gamma	gene	DOID:417	autoimmune disease		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19077085|PMID:9647229
8781804	Ifng	interferon gamma	gene	DOID:418	systemic scleroderma	treatment	ISO	RGD:737487	D	RGD:9068941	20200609	RGD			PMID:1418004|REF_RGD_ID:8157622
8781804	Ifng	interferon gamma	gene	DOID:4481	allergic rhinitis		ISO	RGD:737487	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:29871060
8781804	Ifng	interferon gamma	gene	DOID:4481	allergic rhinitis	treatment	ISO	RGD:2866	D	RGD:9068941	20200609	RGD			PMID:18510219|REF_RGD_ID:10755770
8781804	Ifng	interferon gamma	gene	DOID:4481	allergic rhinitis	treatment	ISO	RGD:737487	D	RGD:9068941	20200609	RGD		associated with Asthma	PMID:12787306|REF_RGD_ID:7829803
8781804	Ifng	interferon gamma	gene	DOID:4692	endophthalmitis		ISO	RGD:2866	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous:	PMID:16544114|REF_RGD_ID:7829753
8781804	Ifng	interferon gamma	gene	DOID:5082	liver cirrhosis		ISO	RGD:737487	D	RGD:9068941	20200609	RGD			PMID:12389079|REF_RGD_ID:10755749
8781804	Ifng	interferon gamma	gene	DOID:5082	liver cirrhosis		ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:21664391|REF_RGD_ID:6893452
8781804	Ifng	interferon gamma	gene	DOID:5199	ureteral obstruction		ISO	RGD:2866	D	RGD:9068941	20200609	RGD			PMID:21216449|REF_RGD_ID:6893456
8781804	Ifng	interferon gamma	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:737487	D	RGD:7240710	20230505	OMIM			
8781804	Ifng	interferon gamma	gene	DOID:530	eyelid disease		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17075842
8781804	Ifng	interferon gamma	gene	DOID:552	pneumonia		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8781804	Ifng	interferon gamma	gene	DOID:576	proteinuria		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3091246|PMID:8289579
8781804	Ifng	interferon gamma	gene	DOID:5773	oral submucous fibrosis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16311067
8781804	Ifng	interferon gamma	gene	DOID:6000	congestive heart failure		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20938210|PMID:3091246
8781804	Ifng	interferon gamma	gene	DOID:6132	bronchitis	resistance	ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:20953328|REF_RGD_ID:4145525
8781804	Ifng	interferon gamma	gene	DOID:635	acquired immunodeficiency syndrome		ISO	RGD:737487	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACQUIRED IMMUNODEFICIENCY SYNDROME, RAPID PROGRESSION TO	
8781804	Ifng	interferon gamma	gene	DOID:639	acute disseminated encephalomyelitis	disease_progression	ISO	RGD:737487	D	RGD:9068941	20200609	RGD		protein:increased expression:T cell:	PMID:11063842|REF_RGD_ID:8157598
8781804	Ifng	interferon gamma	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737488	D	RGD:9068941	20210423	RGD		mRNA:increased expression:liver (mouse)	PMID:26569409|REF_RGD_ID:11344640
8781804	Ifng	interferon gamma	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22450443
8781804	Ifng	interferon gamma	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:737487	D	RGD:9068941	20221117	RGD		mRNA:increased expression:synovial (human)	PMID:22660635|REF_RGD_ID:155663483
8781804	Ifng	interferon gamma	gene	DOID:7148	rheumatoid arthritis	treatment	ISO	RGD:737487	D	RGD:9068941	20200609	RGD			PMID:1417133|REF_RGD_ID:8157623
8781804	Ifng	interferon gamma	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:2866	D	RGD:9068941	20200609	RGD		mRNA:increased expression:thyroid:	PMID:10560963|REF_RGD_ID:10755769
8781804	Ifng	interferon gamma	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:2866	D	RGD:9068941	20201002	RGD		protein:increased expression:serum (rat)	PMID:15238617|REF_RGD_ID:1302825
8781804	Ifng	interferon gamma	gene	DOID:813	septic arthritis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19203382
8781804	Ifng	interferon gamma	gene	DOID:8283	peritonitis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19804847
8781804	Ifng	interferon gamma	gene	DOID:8283	peritonitis	treatment	ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:28593696|REF_RGD_ID:14974254
8781804	Ifng	interferon gamma	gene	DOID:83	cataract		ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:8188461|REF_RGD_ID:8157612
8781804	Ifng	interferon gamma	gene	DOID:8337	appendicitis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367942
8781804	Ifng	interferon gamma	gene	DOID:850	lung disease		ISO	RGD:737487	D	RGD:9068941	20200806	RGD		associated with HTLV-I Infections;protein:increased expression:bronchoalveolar lavage fluid:	PMID:24292748|REF_RGD_ID:36947872
8781804	Ifng	interferon gamma	gene	DOID:8692	myeloid leukemia	treatment	ISO	RGD:737487	D	RGD:9068941	20200609	RGD			PMID:20959405|REF_RGD_ID:10755686
8781804	Ifng	interferon gamma	gene	DOID:8704	genital herpes		ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:10366565|REF_RGD_ID:8158034
8781804	Ifng	interferon gamma	gene	DOID:874	bacterial pneumonia	severity	ISO	RGD:737488	D	RGD:9068941	20200820	RGD			PMID:25398094|REF_RGD_ID:38501102
8781804	Ifng	interferon gamma	gene	DOID:8778	Crohn's disease		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21829567
8781804	Ifng	interferon gamma	gene	DOID:8778	Crohn's disease		ISO	RGD:737487	D	RGD:9068941	20200609	RGD			PMID:28070144|REF_RGD_ID:14974261
8781804	Ifng	interferon gamma	gene	DOID:9000099	Experimental Colitis		ISO	RGD:2866	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:15030379|REF_RGD_ID:10755756
8781804	Ifng	interferon gamma	gene	DOID:9000099	Experimental Colitis		ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:27498708|REF_RGD_ID:14975101
8781804	Ifng	interferon gamma	gene	DOID:9000304	Manganese Poisoning		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18041089
8781804	Ifng	interferon gamma	gene	DOID:9000469	Viral Myocarditis	treatment	ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:11092674|REF_RGD_ID:13702913
8781804	Ifng	interferon gamma	gene	DOID:9000499	Alcoholic Intoxication	treatment	ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:9514301|REF_RGD_ID:10755766
8781804	Ifng	interferon gamma	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:2866	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung:	PMID:8690457|REF_RGD_ID:10755761
8781804	Ifng	interferon gamma	gene	DOID:9000855	Experimental Radiation Injuries		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11121210
8781804	Ifng	interferon gamma	gene	DOID:9000972	Fever		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:18282668|PMID:3091246
8781804	Ifng	interferon gamma	gene	DOID:9001204	Dyspepsia	treatment	ISO	RGD:2866	D	RGD:9068941	20200609	RGD			PMID:28854971|REF_RGD_ID:14975120
8781804	Ifng	interferon gamma	gene	DOID:9001415	Mycobacterium Infections		ISO	RGD:2866	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:lung	PMID:19060451|REF_RGD_ID:2311490
8781804	Ifng	interferon gamma	gene	DOID:9001455	Intestinal Helminthiasis		ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:29950724|REF_RGD_ID:14974257
8781804	Ifng	interferon gamma	gene	DOID:9001472	Nasal Polyps		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal mucosa, tissue:	PMID:9149164|REF_RGD_ID:8158035
8781804	Ifng	interferon gamma	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12389079|PMID:15996030|PMID:16953842|PMID:17347453
8781804	Ifng	interferon gamma	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737488	D	RGD:9068941	20201023	RGD		protein:increased expression:serum (mouse)	PMID:28465467|REF_RGD_ID:39939037
8781804	Ifng	interferon gamma	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:2866	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19439114|REF_RGD_ID:2311495
8781804	Ifng	interferon gamma	gene	DOID:9001820	Pulmonary Arterial Hypertension	treatment	ISO	RGD:2866	D	RGD:9068941	20230608	RGD			PMID:23867624|REF_RGD_ID:329848996
8781804	Ifng	interferon gamma	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:737488	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney, T cell	PMID:22286547|REF_RGD_ID:6893364
8781804	Ifng	interferon gamma	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15711825
8781804	Ifng	interferon gamma	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	susceptibility	ISO	RGD:737487	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :847A>T(human)	PMID:19757192|REF_RGD_ID:10755703
8781804	Ifng	interferon gamma	gene	DOID:9002315	Kidney Calculi		ISO	RGD:737488	D	RGD:9068941	20200609	RGD		associated with type 2 diabetes mellitus; mRNA:increased expression:kidney	PMID:21514417|REF_RGD_ID:6893463
8781804	Ifng	interferon gamma	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2866	D	RGD:9068941	20200609	RGD			PMID:12412757|REF_RGD_ID:2311498
8781804	Ifng	interferon gamma	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19203382|PMID:22450443
8781804	Ifng	interferon gamma	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:7774621|REF_RGD_ID:10755750
8781804	Ifng	interferon gamma	gene	DOID:9002605	Delayed Hypersensitivity		ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:3139020|REF_RGD_ID:8157617
8781804	Ifng	interferon gamma	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	disease_progression	ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:15661899|REF_RGD_ID:7987912
8781804	Ifng	interferon gamma	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:22896638|REF_RGD_ID:10755692
8781804	Ifng	interferon gamma	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10866311
8781804	Ifng	interferon gamma	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15153526|PMID:16307444|PMID:19457078
8781804	Ifng	interferon gamma	gene	DOID:9003566	Mesothelioma		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12768194
8781804	Ifng	interferon gamma	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2866	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19514843|REF_RGD_ID:2308950
8781804	Ifng	interferon gamma	gene	DOID:9004283	Transplant Rejection		ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:22564629|REF_RGD_ID:7364833
8781804	Ifng	interferon gamma	gene	DOID:9004484	Sepsis		ISO	RGD:2866	D	RGD:9068941	20200609	RGD			PMID:27598601|REF_RGD_ID:14975121
8781804	Ifng	interferon gamma	gene	DOID:9004484	Sepsis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9806674
8781804	Ifng	interferon gamma	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:737487	D	RGD:9068941	20200609	RGD			PMID:28711488|REF_RGD_ID:14974250
8781804	Ifng	interferon gamma	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:2866	D	RGD:9068941	20200609	RGD			PMID:21767135|REF_RGD_ID:6480432
8781804	Ifng	interferon gamma	gene	DOID:9004751	Nausea		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3091246
8781804	Ifng	interferon gamma	gene	DOID:9005099	Salmonella Infections, Animal		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16002714
8781804	Ifng	interferon gamma	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:7614408
8781804	Ifng	interferon gamma	gene	DOID:9005236	Drug Eruptions		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31150805
8781804	Ifng	interferon gamma	gene	DOID:9005372	Inflammation		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:21937650|PMID:22617429|PMID:23164921
8781804	Ifng	interferon gamma	gene	DOID:9005372	Inflammation	resistance	ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:20953328|REF_RGD_ID:4145525
8781804	Ifng	interferon gamma	gene	DOID:9005474	Experimental Sarcoma	treatment	ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:2119881|REF_RGD_ID:10755752
8781804	Ifng	interferon gamma	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2866	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:20213480|REF_RGD_ID:5147915
8781804	Ifng	interferon gamma	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21340626
8781804	Ifng	interferon gamma	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:737488	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas	PMID:18789669|REF_RGD_ID:2311492
8781804	Ifng	interferon gamma	gene	DOID:9005749	Necrosis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10903806|PMID:10909967
8781804	Ifng	interferon gamma	gene	DOID:9005930	Endotoxemia		ISO	RGD:2866	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:9195172|REF_RGD_ID:10755747
8781804	Ifng	interferon gamma	gene	DOID:9006024	Hypotension		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3091246
8781804	Ifng	interferon gamma	gene	DOID:9006205	Animal Disease Models		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16845661
8781804	Ifng	interferon gamma	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:28355607|REF_RGD_ID:14975115
8781804	Ifng	interferon gamma	gene	DOID:9006449	Chills		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3091246
8781804	Ifng	interferon gamma	gene	DOID:9006635	Hyponatremia		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3091246
8781804	Ifng	interferon gamma	gene	DOID:9006642	Experimental Autoimmune Uveoretinitis		ISO	RGD:2866	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:eye:	PMID:1572694|REF_RGD_ID:8142388
8781804	Ifng	interferon gamma	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:737487	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:31557154
8781804	Ifng	interferon gamma	gene	DOID:9006941	Corneal Perforation		ISO	RGD:737488	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:corneal	PMID:15832292|REF_RGD_ID:8157597
8781804	Ifng	interferon gamma	gene	DOID:9007090	Experimental Seizures		ISO	RGD:2866	D	RGD:9068941	20241214	RGD		mRNA:increased expression:hippocampus:	PMID:19944569|REF_RGD_ID:10755768
8781804	Ifng	interferon gamma	gene	DOID:9007355	Hashimoto Disease	severity	ISO	RGD:737487	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:+874A>T(human)	PMID:16820703|REF_RGD_ID:8142375
8781804	Ifng	interferon gamma	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12153990|PMID:21245496
8781804	Ifng	interferon gamma	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:30013034|REF_RGD_ID:14975100
8781804	Ifng	interferon gamma	gene	DOID:9008114	Helicobacter Infections	disease_progression	ISO	RGD:737488	D	RGD:9068941	20200828	RGD		mRNA:altered expression:gastric antrum (mouse)	PMID:29085807|REF_RGD_ID:38549349
8781804	Ifng	interferon gamma	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:737487	D	RGD:9068941	20200609	RGD			PMID:26684441|REF_RGD_ID:14974255
8781804	Ifng	interferon gamma	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:737487	D	RGD:9068941	20201023	RGD		protein:decreased expression:serum (human)	PMID:28465467|REF_RGD_ID:39939037
8781804	Ifng	interferon gamma	gene	DOID:9008207	Chronic Thyroiditis	susceptibility	ISO	RGD:737487	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:+874A>T(human)	PMID:16970687|REF_RGD_ID:8157599
8781804	Ifng	interferon gamma	gene	DOID:9008385	Vomiting		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3091246
8781804	Ifng	interferon gamma	gene	DOID:9008821	Otitis Media with Effusion		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:16055981|REF_RGD_ID:7987911
8781804	Ifng	interferon gamma	gene	DOID:9008821	Otitis Media with Effusion		ISO	RGD:737488	D	RGD:9068941	20200609	RGD		protein:decreased expression:middle ear:	PMID:15938212|REF_RGD_ID:8142354
8781804	Ifng	interferon gamma	gene	DOID:9008865	Entamoebiasis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16374615
8781804	Ifng	interferon gamma	gene	DOID:9008865	Entamoebiasis		ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:29255076|REF_RGD_ID:14975099
8781804	Ifng	interferon gamma	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19446661
8781804	Ifng	interferon gamma	gene	DOID:9065	leishmaniasis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16540374|PMID:17218153
8781804	Ifng	interferon gamma	gene	DOID:9065	leishmaniasis		ISO	RGD:737487	D	RGD:9068941	20200609	RGD			PMID:2145107|REF_RGD_ID:7829781
8781804	Ifng	interferon gamma	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		mRNA:increased expression:leukocyte,mononuclear	PMID:22759859|REF_RGD_ID:6893373
8781804	Ifng	interferon gamma	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:737487	D	RGD:9068941	20221117	RGD		mRNA:increased expression:kidney (human)	PMID:22660635|REF_RGD_ID:155663483
8781804	Ifng	interferon gamma	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:737488	D	RGD:9068941	20200609	RGD		protein:increased expression:renal glomerulus	PMID:29925830|REF_RGD_ID:14974252
8781804	Ifng	interferon gamma	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:20102417|PMID:8154019|PMID:9234779
8781804	Ifng	interferon gamma	gene	DOID:9111	cutaneous leishmaniasis	treatment	ISO	RGD:737488	D	RGD:9068941	20201211	RGD			PMID:27999013|REF_RGD_ID:40890273
8781804	Ifng	interferon gamma	gene	DOID:9123	eczema herpeticum		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:peripheral mononuclear cell:	PMID:21458658|REF_RGD_ID:6480259
8781804	Ifng	interferon gamma	gene	DOID:9123	eczema herpeticum	susceptibility	ISO	RGD:737487	D	RGD:9068941	20200609	RGD		DNA:haplotype::	PMID:21458658|REF_RGD_ID:6480259
8781804	Ifng	interferon gamma	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:1901333|PMID:7854095
8781804	Ifng	interferon gamma	gene	DOID:9146	visceral leishmaniasis	treatment	ISO	RGD:737488	D	RGD:9068941	20201211	RGD			PMID:27999013|PMID:3104456|REF_RGD_ID:40890273|REF_RGD_ID:8158041
8781804	Ifng	interferon gamma	gene	DOID:9155	mucocutaneous leishmaniasis		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:7854095
8781804	Ifng	interferon gamma	gene	DOID:9201	lichen planus		ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:3139020|REF_RGD_ID:8157617
8781804	Ifng	interferon gamma	gene	DOID:934	viral infectious disease	treatment	ISO	RGD:2866	D	RGD:9068941	20260702	RGD		associated with chronic asthma	PMID:11152653|REF_RGD_ID:736706605
8781804	Ifng	interferon gamma	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737487	D	RGD:9068941	20200609	RGD			PMID:18852529|REF_RGD_ID:2311491
8781804	Ifng	interferon gamma	gene	DOID:936	brain disease		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18282668
8781804	Ifng	interferon gamma	gene	DOID:9362	status asthmaticus	resistance	ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:20817868|REF_RGD_ID:4145651
8781804	Ifng	interferon gamma	gene	DOID:9408	acute myocardial infarction	ameliorates	ISO	RGD:2866	D	RGD:9068941	20230420	RGD			PMID:32068187|REF_RGD_ID:267358468
8781804	Ifng	interferon gamma	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		DNA:polymorphism: : 874T>A (human)	PMID:22906585|REF_RGD_ID:6893460
8781804	Ifng	interferon gamma	gene	DOID:9743	diabetic neuropathy		ISO	RGD:737487	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :874A>T (human)	PMID:19608431|REF_RGD_ID:2311489
8781804	Ifng	interferon gamma	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:2866	D	RGD:9068941	20200609	RGD			PMID:8977415|REF_RGD_ID:10755748
8781804	Ifng	interferon gamma	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:737487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21340626
8781804	Ifng	interferon gamma	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:737488	D	RGD:9068941	20200609	RGD			PMID:18644830|REF_RGD_ID:2311493
8781804	Ifng	interferon gamma	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:737488	D	RGD:9068941	20220825	MouseDO		OMIM:222100	
8781804	Ifng	interferon gamma	gene	DOID:9952	acute lymphoblastic leukemia	susceptibility	ISO	RGD:737487	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2069727(human)	PMID:21067287|REF_RGD_ID:10755691
8781804	Ifng	interferon gamma	gene	DOID:9970	obesity		ISO	RGD:2866	D	RGD:9068941	20200609	RGD		associated with Asthma;protein:increased expression:serum	PMID:19575934|REF_RGD_ID:2311494
8781812	Apoc2	apolipoprotein C2	gene	DOID:0111418	familial apolipoprotein C-II deficiency		ISO	RGD:1352001	D	RGD:7240710	20191106	OMIM			
8781812	Apoc2	apolipoprotein C2	gene	DOID:1168	familial hyperlipidemia	susceptibility	ISO	RGD:1352001	D	RGD:9068941	20200609	RGD			PMID:1782747|REF_RGD_ID:1599175
8781812	Apoc2	apolipoprotein C2	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1352001	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:8366982|REF_RGD_ID:2313970
8781812	Apoc2	apolipoprotein C2	gene	DOID:1390	hypobetalipoproteinemia		ISO	RGD:1352001	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:2242096|REF_RGD_ID:1601212
8781812	Apoc2	apolipoprotein C2	gene	DOID:14118	familial lipoprotein lipase deficiency		ISO	RGD:1352001	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	
8781812	Apoc2	apolipoprotein C2	gene	DOID:2377	multiple sclerosis		ISO	RGD:1352001	D	RGD:9068941	20200609	RGD			PMID:10335523|REF_RGD_ID:1358408
8781812	Apoc2	apolipoprotein C2	gene	DOID:3146	lipid metabolism disorder	no_association	ISO	RGD:1352001	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.K19T (human)	PMID:7923858|REF_RGD_ID:1601206
8781812	Apoc2	apolipoprotein C2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352001	D	RGD:9068941	20220908	RGD		associated with hepatitis B; mRNA:increased expression:liver	PMID:31211449|REF_RGD_ID:153350082
8781812	Apoc2	apolipoprotein C2	gene	DOID:783	end stage renal disease		ISO	RGD:1352001	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent	PMID:8139482|REF_RGD_ID:2313968
8781812	Apoc2	apolipoprotein C2	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:1352001	D	RGD:9068941	20200609	RGD			PMID:7590197|REF_RGD_ID:1601205
8781812	Apoc2	apolipoprotein C2	gene	DOID:9000808	Hypercholesterolemia	susceptibility	ISO	RGD:1352001	D	RGD:9068941	20200609	RGD		associated with Hypertriglyceridemia;DNA:missense mutation: :p.K38Q (human)	PMID:8490626|REF_RGD_ID:1601207
8781812	Apoc2	apolipoprotein C2	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1352001	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11420682
8781812	Apoc2	apolipoprotein C2	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1352001	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:35172013
8781812	Apoc2	apolipoprotein C2	gene	DOID:9005236	Drug Eruptions		ISO	RGD:1352001	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21055120
8781812	Apoc2	apolipoprotein C2	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1352001	D	RGD:9068941	20200609	RGD			PMID:3944267|REF_RGD_ID:1601214
8781812	Apoc2	apolipoprotein C2	gene	DOID:9006599	Hypertriglyceridemia	susceptibility	ISO	RGD:1352001	D	RGD:9068941	20200609	RGD			PMID:7590197|REF_RGD_ID:1601205
8781812	Apoc2	apolipoprotein C2	gene	DOID:9007571	Hyperlipoproteinemias		ISO	RGD:1352001	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:1468157|REF_RGD_ID:1601208
8781812	Apoc2	apolipoprotein C2	gene	DOID:9007571	Hyperlipoproteinemias	susceptibility	ISO	RGD:1352001	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.L72P (human)	PMID:16153625|REF_RGD_ID:1601204
8781812	Apoc2	apolipoprotein C2	gene	DOID:9351	diabetes mellitus		ISO	RGD:1352001	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:2352345|REF_RGD_ID:2313973
8781812	Apoc2	apolipoprotein C2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1352001	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:12733353|PMID:3757210|REF_RGD_ID:2313953|REF_RGD_ID:2313966
8781812	Apoc2	apolipoprotein C2	gene	DOID:9970	obesity		ISO	RGD:1352001	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:9002300|REF_RGD_ID:1601191
8781863	Rnf157	ring finger protein 157	gene	DOID:10534	stomach cancer		ISO	RGD:1348356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8781863	Rnf157	ring finger protein 157	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8781863	Rnf157	ring finger protein 157	gene	DOID:1115	sarcoma		ISO	RGD:1348356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8781863	Rnf157	ring finger protein 157	gene	DOID:3265	chronic granulomatous disease		ISO	RGD:1348356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic granulomatous disease	PMID:25741868
8781863	Rnf157	ring finger protein 157	gene	DOID:4362	cervical cancer		ISO	RGD:1348356	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8781863	Rnf157	ring finger protein 157	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8781863	Rnf157	ring finger protein 157	gene	DOID:5041	esophageal cancer		ISO	RGD:1348356	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8781863	Rnf157	ring finger protein 157	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781863	Rnf157	ring finger protein 157	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8781863	Rnf157	ring finger protein 157	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8781863	Rnf157	ring finger protein 157	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8781863	Rnf157	ring finger protein 157	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8781899	Hoxb13	homeobox B13	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:1319269	D	RGD:9068941	20200609	RGD		DNA:hypermethylation	PMID:19250546|REF_RGD_ID:2314726
8781899	Hoxb13	homeobox B13	gene	DOID:10283	prostate cancer		ISO	RGD:1319269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: prostate cancer	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8781899	Hoxb13	homeobox B13	gene	DOID:10534	stomach cancer		ISO	RGD:1319269	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:36988593
8781899	Hoxb13	homeobox B13	gene	DOID:1380	endometrial cancer		ISO	RGD:1319269	D	RGD:9068941	20200609	RGD			PMID:15756448|REF_RGD_ID:2314730
8781899	Hoxb13	homeobox B13	gene	DOID:1909	melanoma		ISO	RGD:1319269	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17145863
8781899	Hoxb13	homeobox B13	gene	DOID:4362	cervical cancer		ISO	RGD:1319269	D	RGD:9068941	20200609	RGD		mRNA:increased expression:uterine cervix	PMID:16803519|REF_RGD_ID:2314728
8781899	Hoxb13	homeobox B13	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:1319269	D	RGD:9068941	20200609	RGD		DNA:hypermethylation	PMID:16278676|REF_RGD_ID:2314729
8781899	Hoxb13	homeobox B13	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1319269	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer	PMID:15964834|PMID:17138648|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27902461|PMID:28050579|PMID:28492532|PMID:28798948|PMID:30527799|PMID:30560549|PMID:32546843|PMID:8756292
8781899	Hoxb13	homeobox B13	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1319269	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:15964834|PMID:17138648|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26467025|PMID:26517352|PMID:26779768|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27902461|PMID:28050579|PMID:28492532|PMID:28798948|PMID:30527799|PMID:30560549|PMID:32546843|PMID:32830201|PMID:38922859|PMID:8756292
8781899	Hoxb13	homeobox B13	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319269	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23104005|PMID:24239177|PMID:24390282|PMID:26457646|PMID:32690948|PMID:35468964
8781899	Hoxb13	homeobox B13	gene	DOID:9003452	Prostate Cancer, Hereditary, 9		ISO	RGD:1319269	D	RGD:7240710	20190315	OMIM			
8781899	Hoxb13	homeobox B13	gene	DOID:9003452	Prostate Cancer, Hereditary, 9		ISO	RGD:1319269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HOXB13-related condition | ClinVar Annotator: match by term: Prostate cancer, hereditary, 9	PMID:22781434|PMID:25741868|PMID:26467025|PMID:28072499|PMID:28272408|PMID:28492532|PMID:31214711|PMID:32040869|PMID:34799695|PMID:35031163|PMID:36446039|PMID:37806842
8781899	Hoxb13	homeobox B13	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1319269	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26213588
8781899	Hoxb13	homeobox B13	gene	DOID:9005062	Prostate Cancer, Hereditary, 1		ISO	RGD:1319269	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Prostate cancer, hereditary, 1	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098
8781899	Hoxb13	homeobox B13	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:22781434|PMID:25741868|PMID:28492532|PMID:32040869|PMID:34799695|PMID:35031163|PMID:36446039|PMID:37806842
8781899	Hoxb13	homeobox B13	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319269	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29740894|PMID:31214711|PMID:32040869|PMID:32546843|PMID:8756292|PMID:9536098
8781899	Hoxb13	homeobox B13	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319269	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29740894|PMID:31214711|PMID:32040869|PMID:32338768|PMID:32546843|PMID:8756292|PMID:9536098
8781899	Hoxb13	homeobox B13	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319269	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:32040869|PMID:32338768|PMID:32546843|PMID:8756292|PMID:9536098
8781899	Hoxb13	homeobox B13	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319269	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22423909|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23104005|PMID:23129385|PMID:23292082|PMID:23457453|PMID:23518396|PMID:23535732|PMID:24026887|PMID:24148311|PMID:24497837|PMID:24550738|PMID:24740154|PMID:24818853|PMID:25206306|PMID:25629170|PMID:25741868|PMID:25874003|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26604137|PMID:26845104|PMID:26967244|PMID:27153395|PMID:27262462|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27814745|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28598379|PMID:28798948|PMID:29181843|PMID:29740894|PMID:29892050|PMID:29915322|PMID:30397198|PMID:30527799|PMID:30560549|PMID:30665703|PMID:30777372|PMID:31214711|PMID:31226226|PMID:31556563|PMID:32040869|PMID:32338768|PMID:32546843|PMID:32830201|PMID:8756292|PMID:9536098
8781899	Hoxb13	homeobox B13	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319269	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29471853|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:32040869|PMID:32338768|PMID:32546843|PMID:34799695|PMID:35031163|PMID:36988593|PMID:8756292|PMID:9536098
8781899	Hoxb13	homeobox B13	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319269	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26343386|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29471853|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:31785789|PMID:32040869|PMID:32338768|PMID:32546843|PMID:34609407|PMID:34799695|PMID:35031163|PMID:36243179|PMID:36988593|PMID:8756292|PMID:9536098
8781899	Hoxb13	homeobox B13	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319269	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22718278|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26343386|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29471853|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:31785789|PMID:32040869|PMID:32338768|PMID:32546843|PMID:34609407|PMID:34799695|PMID:35031163|PMID:36095024|PMID:36243179|PMID:36446039|PMID:36988593|PMID:37806842|PMID:8756292|PMID:9536098
8781899	Hoxb13	homeobox B13	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319269	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22718278|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26343386|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29471853|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:31785789|PMID:32040869|PMID:32338768|PMID:32546843|PMID:34609407|PMID:34709755|PMID:34799695|PMID:35031163|PMID:35534218|PMID:36095024|PMID:36243179|PMID:36446039|PMID:36988593|PMID:37806842|PMID:8756292|PMID:9536098
8781899	Hoxb13	homeobox B13	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319269	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22718278|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26343386|PMID:26467025|PMID:26517352|PMID:26779768|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29471853|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:31785789|PMID:32040869|PMID:32338768|PMID:32546843|PMID:32830201|PMID:34609407|PMID:34709755|PMID:34799695|PMID:35031163|PMID:35534218|PMID:36095024|PMID:36243179|PMID:36446039|PMID:36988593|PMID:37806842|PMID:8756292|PMID:9536098
8781899	Hoxb13	homeobox B13	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319269	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22718278|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23396964|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26343386|PMID:26467025|PMID:26517352|PMID:26779768|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29471853|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:31785789|PMID:32040869|PMID:32338768|PMID:32546843|PMID:32830201|PMID:34609407|PMID:34709755|PMID:34799695|PMID:35031163|PMID:35534218|PMID:36095024|PMID:36243179|PMID:36446039|PMID:36988593|PMID:37415201|PMID:37806842|PMID:8756292|PMID:9536098
8781899	Hoxb13	homeobox B13	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:22236224|PMID:22781434|PMID:25741868|PMID:26176944|PMID:26343386|PMID:26467025|PMID:27424772|PMID:27701467|PMID:28050579|PMID:28072499|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29471853|PMID:29740894|PMID:31024864|PMID:31214711|PMID:32040869|PMID:32338768|PMID:32660704|PMID:34799695|PMID:35031163|PMID:35534218|PMID:36095024|PMID:36243179|PMID:36446039|PMID:36988593|PMID:37806842|PMID:9536098
8781899	Hoxb13	homeobox B13	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319269	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24239177
8781899	Hoxb13	homeobox B13	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319269	D	RGD:9068941	20200609	RGD		DNA:hypermethylation	PMID:19250546|REF_RGD_ID:2314726
8781899	Hoxb13	homeobox B13	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:1319269	D	RGD:9068941	20200609	RGD			PMID:17453342|REF_RGD_ID:2314727
8781905	Exog	exo/endonuclease G	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1312174	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:20129283|PMID:22789973|PMID:28492532
8781905	Exog	exo/endonuclease G	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312174	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8781905	Exog	exo/endonuclease G	gene	DOID:10534	stomach cancer		ISO	RGD:1312174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8781905	Exog	exo/endonuclease G	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8781905	Exog	exo/endonuclease G	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8781905	Exog	exo/endonuclease G	gene	DOID:5041	esophageal cancer		ISO	RGD:1312174	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8781905	Exog	exo/endonuclease G	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781905	Exog	exo/endonuclease G	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8781905	Exog	exo/endonuclease G	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8781905	Exog	exo/endonuclease G	gene	DOID:9256	colorectal cancer		ISO	RGD:1312174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8781926	Ormdl1	ORMDL sphingolipid biosynthesis regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8781926	Ormdl1	ORMDL sphingolipid biosynthesis regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781926	Ormdl1	ORMDL sphingolipid biosynthesis regulator 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8781935	Lrrc42	leucine rich repeat containing 42	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8781935	Lrrc42	leucine rich repeat containing 42	gene	DOID:10534	stomach cancer		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8781935	Lrrc42	leucine rich repeat containing 42	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8781935	Lrrc42	leucine rich repeat containing 42	gene	DOID:1115	sarcoma		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8781935	Lrrc42	leucine rich repeat containing 42	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8781935	Lrrc42	leucine rich repeat containing 42	gene	DOID:4362	cervical cancer		ISO	RGD:1604548	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8781935	Lrrc42	leucine rich repeat containing 42	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8781935	Lrrc42	leucine rich repeat containing 42	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8781935	Lrrc42	leucine rich repeat containing 42	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8781935	Lrrc42	leucine rich repeat containing 42	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8781993	Slc22a7	solute carrier family 22 member 7	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:732686	D	RGD:9068941	20220616	RGD		DNA:SNP:cds:rs2270860|rs4149178 (human)	PMID:28347776|REF_RGD_ID:152995291
8782011	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8782011	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:10283	prostate cancer		ISO	RGD:1603998	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
8782011	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:10534	stomach cancer		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8782011	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:1324	lung cancer		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8782011	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:1909	melanoma		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8782011	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:2661	myoepithelioma		ISO	RGD:1603998	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8782011	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:3275	thymoma		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8782011	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:4362	cervical cancer		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8782011	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8782011	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:5041	esophageal cancer		ISO	RGD:1603998	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8782011	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782011	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8782011	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8782011	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8782011	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8782011	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:9256	colorectal cancer		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8782045	Dapl1	death associated protein like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782045	Dapl1	death associated protein like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8782053	Ppp1r16a	protein phosphatase 1 regulatory subunit 16A	gene	DOID:10534	stomach cancer		ISO	RGD:1317459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8782053	Ppp1r16a	protein phosphatase 1 regulatory subunit 16A	gene	DOID:1115	sarcoma		ISO	RGD:1317459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8782053	Ppp1r16a	protein phosphatase 1 regulatory subunit 16A	gene	DOID:2394	ovarian cancer		ISO	RGD:1317459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8782053	Ppp1r16a	protein phosphatase 1 regulatory subunit 16A	gene	DOID:3275	thymoma		ISO	RGD:1317459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8782053	Ppp1r16a	protein phosphatase 1 regulatory subunit 16A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8782082	C1r	complement C1r	gene	DOID:0080986	Ehlers-Danlos syndrome periodontal type 1		ISO	RGD:1319235	D	RGD:7240710	20190315	OMIM			
8782082	C1r	complement C1r	gene	DOID:0080986	Ehlers-Danlos syndrome periodontal type 1		ISO	RGD:1319235	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: C1R-related condition | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome periodontal type 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1	PMID:25741868|PMID:27745832|PMID:31749804|PMID:33005042|PMID:34324282|PMID:37323685|PMID:37813462|PMID:38096369
8782082	C1r	complement C1r	gene	DOID:0080987	Ehlers-Danlos syndrome periodontal type 2		ISO	RGD:1319235	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type, 2	PMID:25741868|PMID:27745832
8782082	C1r	complement C1r	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:1319235	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	
8782082	C1r	complement C1r	gene	DOID:289	endometriosis		ISO	RGD:1319235	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
8782082	C1r	complement C1r	gene	DOID:8725	vascular dementia		ISO	RGD:1319235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:35307828
8782082	C1r	complement C1r	gene	DOID:9003565	Paratuberculosis		ISO	RGD:1319235	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22633222
8782082	C1r	complement C1r	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1319235	D	RGD:9068941	20200609	RGD		protein:increased expression:adipocyte	PMID:17244723|REF_RGD_ID:1600551
8782102	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8782102	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8782102	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8782102	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:1115	sarcoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8782102	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:1324	lung cancer		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8782102	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:1909	melanoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8782102	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:3275	thymoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8782102	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8782102	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315077	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8782102	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782102	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8782102	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8782102	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8782102	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:0060484	EAST syndrome		ISO	RGD:731912	D	RGD:7240710	20180130	OMIM			
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:0060484	EAST syndrome		ISO	RGD:731912	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: SeSAME syndrome | ClinVar Annotator: match by term: SeSAME-like syndrome	PMID:19289823|PMID:19420365|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21458570|PMID:21849804|PMID:22612257|PMID:22782654|PMID:23918157|PMID:23922547|PMID:23924083|PMID:23965030|PMID:24193250|PMID:24378235|PMID:24561201|PMID:24794859|PMID:24860705|PMID:25372295|PMID:25741868|PMID:26467025|PMID:26867573|PMID:27182706|PMID:27535533|PMID:27677466|PMID:27884173|PMID:28492532|PMID:28835827|PMID:29191078|PMID:29615871|PMID:30304693|PMID:30356026|PMID:31069529|PMID:32062759|PMID:32233732|PMID:32581362|PMID:33084218|PMID:33424762|PMID:38374498
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:0060744	Pendred syndrome		ISO	RGD:731912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome	PMID:19289823|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21849804|PMID:22612257|PMID:23924083|PMID:24193250|PMID:24561201|PMID:25741868|PMID:28492532|PMID:38374498
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:0060744	Pendred syndrome		ISO	RGD:731912	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Goiter-deafness syndrome	PMID:19289823|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21849804|PMID:22612257|PMID:23922547|PMID:23924083|PMID:24193250|PMID:24561201|PMID:25741868|PMID:28492532|PMID:28835827|PMID:30356026|PMID:38374498
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:0061165	proximal renal tubular acidosis		ISO	RGD:731912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proximal renal tubular acidosis	PMID:24378235|PMID:25741868|PMID:28492532|PMID:32062759|PMID:33424762
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:0110498	autosomal recessive nonsyndromic deafness 4		ISO	RGD:731912	D	RGD:7240710	20180130	OMIM			
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:0110498	autosomal recessive nonsyndromic deafness 4		ISO	RGD:731912	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-related disorder | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder	PMID:19289823|PMID:19426954|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21458570|PMID:21849804|PMID:22612257|PMID:23869231|PMID:23918157|PMID:23924083|PMID:23965030|PMID:24193250|PMID:24378235|PMID:24561201|PMID:24860705|PMID:25372295|PMID:25741868|PMID:26467025|PMID:26867573|PMID:27171548|PMID:27182706|PMID:27535533|PMID:27677466|PMID:27875746|PMID:27884173|PMID:28492532|PMID:28747464|PMID:29615871|PMID:30304693|PMID:30733538|PMID:32062759|PMID:32233732
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:0110498	autosomal recessive nonsyndromic deafness 4		ISO	RGD:731912	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-related disorder | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4	PMID:19289823|PMID:19426954|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21458570|PMID:21849804|PMID:22612257|PMID:23869231|PMID:23918157|PMID:23924083|PMID:23965030|PMID:24193250|PMID:24378235|PMID:24561201|PMID:24860705|PMID:25372295|PMID:25741868|PMID:26467025|PMID:26867573|PMID:27171548|PMID:27182706|PMID:27535533|PMID:27677466|PMID:27875746|PMID:27884173|PMID:28492532|PMID:28747464|PMID:29191078|PMID:29615871|PMID:30304693|PMID:30733538|PMID:32062759|PMID:32233732
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:0110498	autosomal recessive nonsyndromic deafness 4		ISO	RGD:731912	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: KCNJ10-Related Disorders	PMID:19289823|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21458570|PMID:21849804|PMID:22612257|PMID:23918157|PMID:23922547|PMID:23924083|PMID:23965030|PMID:24193250|PMID:24378235|PMID:24561201|PMID:24794859|PMID:24860705|PMID:25372295|PMID:25741868|PMID:26467025|PMID:27182706|PMID:27535533|PMID:27677466|PMID:27884173|PMID:28492532|PMID:28835827|PMID:29191078|PMID:29615871|PMID:30304693|PMID:30356026|PMID:32233732|PMID:38374498
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:731912	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:32581362
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:1059	intellectual disability		ISO	RGD:731912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:21458570|PMID:23965030|PMID:24378235|PMID:24794859|PMID:25741868|PMID:26467025|PMID:27182706|PMID:27535533|PMID:27677466|PMID:27884173|PMID:28492532|PMID:29615871|PMID:30304693
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:10907	microcephaly		ISO	RGD:731912	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:24378235|PMID:26467025|PMID:28492532|PMID:32581362
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:10965	spastic diplegia		ISO	RGD:731912	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:32581362
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:1206	Rett syndrome		ISO	RGD:62113	D	RGD:9068941	20200609	RGD		protein:increased expression:locus ceruleus	PMID:21307341|REF_RGD_ID:8662896
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:12849	autistic disorder		ISO	RGD:731912	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:19289823|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21458570|PMID:21849804|PMID:23922547|PMID:23924083|PMID:23965030|PMID:24794859|PMID:25741868|PMID:26467025|PMID:27182706|PMID:27535533|PMID:27677466|PMID:27884173|PMID:28492532|PMID:28835827|PMID:29615871|PMID:30304693|PMID:30356026
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:13141	uveitis		ISO	RGD:61822	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:retina	PMID:17356517|REF_RGD_ID:8662881
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:13250	diarrhea		ISO	RGD:731912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:24378235|PMID:25741868|PMID:28492532|PMID:32062759|PMID:33424762
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:1727	retinal vein occlusion		ISO	RGD:61822	D	RGD:9068941	20200609	RGD			PMID:21487926|REF_RGD_ID:5490120
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:1826	epilepsy		ISO	RGD:731912	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:21458570|PMID:23965030|PMID:24378235|PMID:25741868|PMID:26467025|PMID:27182706|PMID:27535533|PMID:27677466|PMID:27884173|PMID:28492532|PMID:29615871|PMID:30304693
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:1826	epilepsy		ISO	RGD:731912	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:24378235|PMID:25741868|PMID:26467025|PMID:28492532
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:1826	epilepsy		ISO	RGD:731912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:19289823|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21458570|PMID:23965030|PMID:24193250|PMID:24378235|PMID:24561201|PMID:24794859|PMID:25741868|PMID:26467025|PMID:27182706|PMID:27535533|PMID:27677466|PMID:27884173|PMID:28492532|PMID:29615871|PMID:30304693
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:224	transient cerebral ischemia		ISO	RGD:61822	D	RGD:9068941	20200609	RGD		protein:decreased expression:CA1 field of hippocampus, astrocyte, astrocyte projection	PMID:20833221|REF_RGD_ID:8662899
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:2377	multiple sclerosis		ISO	RGD:731912	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24070676
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:2548	reflex epilepsy	treatment	ISO	RGD:61822	D	RGD:9068941	20200609	RGD			PMID:30813600|REF_RGD_ID:14995940
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:2661	myoepithelioma		ISO	RGD:731912	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:3213	demyelinating disease		ISO	RGD:62113	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex, blood vessel	PMID:24070676|REF_RGD_ID:8662892
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:61822	D	RGD:9068941	20200609	RGD		protein:decreased expression:brainstem	PMID:22987392|REF_RGD_ID:8662893
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:576	proteinuria		ISO	RGD:731912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: proteinuria	PMID:19426954|PMID:25741868|PMID:28492532
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:630	genetic disease		ISO	RGD:731912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19289823|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21458570|PMID:23918157|PMID:23924083|PMID:23965030|PMID:24378235|PMID:24794859|PMID:24860705|PMID:25372295|PMID:25741868|PMID:26467025|PMID:27182706|PMID:27535533|PMID:27677466|PMID:27884173|PMID:28492532|PMID:29191078|PMID:29615871|PMID:30304693|PMID:32062759|PMID:32233732|PMID:33424762|PMID:38374498|PMID:39607615
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:61822	D	RGD:9068941	20200609	RGD		protein:decreased expression:dorsal plus ventral thalamus, cerebral cortex, astrocyte projection	PMID:23603404|REF_RGD_ID:8662897
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:8466	retinal degeneration		ISO	RGD:61822	D	RGD:9068941	20200609	RGD			PMID:22055109|REF_RGD_ID:8662888
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:870	neuropathy		ISO	RGD:731912	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:8947	diabetic retinopathy	treatment	ISO	RGD:61822	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21672350|PMID:22143324|REF_RGD_ID:8662869|REF_RGD_ID:8662907
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:61822	D	RGD:9068941	20200609	RGD		protein:decreased expression:spinal cord	PMID:20375134|REF_RGD_ID:8662905
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:9000438	Subarachnoid Hemorrhage	treatment	ISO	RGD:61822	D	RGD:9068941	20200609	RGD			PMID:22420318|REF_RGD_ID:8662908
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:9000998	Brain Injuries		ISO	RGD:61822	D	RGD:9068941	20200609	RGD			PMID:20861444|REF_RGD_ID:8662901
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:9001276	Failure to Thrive		ISO	RGD:731912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:24378235|PMID:25741868|PMID:28492532|PMID:32062759|PMID:33424762
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:61822	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:retina	PMID:16330144|REF_RGD_ID:8662868
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:62113	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina, blood vessel	PMID:20132867|REF_RGD_ID:8662890
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:731912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:19289823|PMID:20678478|PMID:20807765|PMID:21088294|PMID:24193250|PMID:24561201|PMID:25741868|PMID:28492532
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:9004538	Hearing Loss		ISO	RGD:731912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed	
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:61822	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:cerebral cortex	PMID:21538466|REF_RGD_ID:8662894
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:9004866	Ataxia		ISO	RGD:731912	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: ataxia	PMID:32581362
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:19289823|PMID:20678478|PMID:20807765|PMID:21088294|PMID:24193250|PMID:24561201|PMID:25741868|PMID:28492532
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:731912	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:61822	D	RGD:9068941	20200609	RGD			PMID:20216911|REF_RGD_ID:2326035
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:9008681	Deafness		ISO	RGD:62113	D	RGD:9068941	20200609	RGD			PMID:12618319|REF_RGD_ID:8662867
8782144	Kcnj10	potassium inwardly rectifying channel subfamily J member 10	gene	DOID:9009225	Episodic Kinesigenic Dyskinesia		ISO	RGD:731912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia	PMID:25741868|PMID:28492532|PMID:38436103|PMID:38979912|PMID:39367724
8782150	Casd1	CAS1 domain sialic acid O acetyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8782150	Casd1	CAS1 domain sialic acid O acetyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8782150	Casd1	CAS1 domain sialic acid O acetyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1603612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8782150	Casd1	CAS1 domain sialic acid O acetyltransferase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8782150	Casd1	CAS1 domain sialic acid O acetyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8782150	Casd1	CAS1 domain sialic acid O acetyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603612	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8782150	Casd1	CAS1 domain sialic acid O acetyltransferase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8782150	Casd1	CAS1 domain sialic acid O acetyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782150	Casd1	CAS1 domain sialic acid O acetyltransferase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8782150	Casd1	CAS1 domain sialic acid O acetyltransferase 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1603612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8782150	Casd1	CAS1 domain sialic acid O acetyltransferase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8782150	Casd1	CAS1 domain sialic acid O acetyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8782150	Casd1	CAS1 domain sialic acid O acetyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8782177	Ppp2ca	protein phosphatase 2 catalytic subunit alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8782177	Ppp2ca	protein phosphatase 2 catalytic subunit alpha	gene	DOID:0051062	ischemic stroke	treatment	ISO	RGD:3380	D	RGD:9068941	20260416	RGD		associated with middle cerebral artery infarction	PMID:23251573|REF_RGD_ID:645122587
8782177	Ppp2ca	protein phosphatase 2 catalytic subunit alpha	gene	DOID:10283	prostate cancer		ISO	RGD:735585	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
8782177	Ppp2ca	protein phosphatase 2 catalytic subunit alpha	gene	DOID:114	heart disease		ISO	RGD:735585	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15247211
8782177	Ppp2ca	protein phosphatase 2 catalytic subunit alpha	gene	DOID:14330	Parkinson's disease		ISO	RGD:735585	D	RGD:9068941	20200609	RGD		protein:decreased tyrosine phosphorylation:brain (human)	PMID:24395787|REF_RGD_ID:8693390
8782177	Ppp2ca	protein phosphatase 2 catalytic subunit alpha	gene	DOID:1909	melanoma		ISO	RGD:735585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8782177	Ppp2ca	protein phosphatase 2 catalytic subunit alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8782177	Ppp2ca	protein phosphatase 2 catalytic subunit alpha	gene	DOID:2841	asthma		ISO	RGD:735585	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22205926
8782177	Ppp2ca	protein phosphatase 2 catalytic subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:735585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8782177	Ppp2ca	protein phosphatase 2 catalytic subunit alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:735585	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8782177	Ppp2ca	protein phosphatase 2 catalytic subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782177	Ppp2ca	protein phosphatase 2 catalytic subunit alpha	gene	DOID:6000	congestive heart failure		ISO	RGD:735585	D	RGD:9068941	20200609	RGD		mRNA:increased expression:vastus lateralis muscle (human)	PMID:14567976|REF_RGD_ID:8693707
8782177	Ppp2ca	protein phosphatase 2 catalytic subunit alpha	gene	DOID:630	genetic disease		ISO	RGD:735585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:31131953
8782177	Ppp2ca	protein phosphatase 2 catalytic subunit alpha	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:3380	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:2562181|REF_RGD_ID:8693574
8782177	Ppp2ca	protein phosphatase 2 catalytic subunit alpha	gene	DOID:9002211	Hyperalgesia		ISO	RGD:3380	D	RGD:9068941	20200609	RGD			PMID:26732138|REF_RGD_ID:11572421
8782177	Ppp2ca	protein phosphatase 2 catalytic subunit alpha	gene	DOID:9006344	Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities		ISO	RGD:735585	D	RGD:7240710	20190424	OMIM			
8782177	Ppp2ca	protein phosphatase 2 catalytic subunit alpha	gene	DOID:9006344	Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities		ISO	RGD:735585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HOUGE-JANSSENS SYNDROME 3 | ClinVar Annotator: match by term: Houge-Janssens syndrome 3 | ClinVar Annotator: match by term: Neurodevelopmental disorder and language delay with or without structural brain abnormalities | ClinVar Annotator: match by term: PPP2CA-related condition	PMID:25741868|PMID:28492532|PMID:29051493|PMID:30595372
8782177	Ppp2ca	protein phosphatase 2 catalytic subunit alpha	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:735585	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8782177	Ppp2ca	protein phosphatase 2 catalytic subunit alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8782177	Ppp2ca	protein phosphatase 2 catalytic subunit alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8782177	Ppp2ca	protein phosphatase 2 catalytic subunit alpha	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:3380	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver, quadriceps, epididymal fat pad (rat)	PMID:22087313|REF_RGD_ID:8693665
8782196	Lmbr1l	limb development membrane protein 1 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8782196	Lmbr1l	limb development membrane protein 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8782196	Lmbr1l	limb development membrane protein 1 like	gene	DOID:10534	stomach cancer		ISO	RGD:1603995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8782196	Lmbr1l	limb development membrane protein 1 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8782196	Lmbr1l	limb development membrane protein 1 like	gene	DOID:1115	sarcoma		ISO	RGD:1603995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8782196	Lmbr1l	limb development membrane protein 1 like	gene	DOID:3070	high grade glioma		ISO	RGD:1603995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8782196	Lmbr1l	limb development membrane protein 1 like	gene	DOID:4362	cervical cancer		ISO	RGD:1603995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8782196	Lmbr1l	limb development membrane protein 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782196	Lmbr1l	limb development membrane protein 1 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8782217	Prph	peripherin	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:733911	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar Annotator: match by term: PRPH-related condition	PMID:15446584|PMID:25741868|PMID:28492532|PMID:32638105
8782217	Prph	peripherin	gene	DOID:0060193	amyotrophic lateral sclerosis type 1	susceptibility	ISO	RGD:733911	D	RGD:7240710	20230505	OMIM			
8782229	LOC102016503	cytochrome b ascorbate-dependent protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782229	LOC102016503	cytochrome b ascorbate-dependent protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8782246	Anapc5	anaphase promoting complex subunit 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8782246	Anapc5	anaphase promoting complex subunit 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8782246	Anapc5	anaphase promoting complex subunit 5	gene	DOID:10534	stomach cancer		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8782246	Anapc5	anaphase promoting complex subunit 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8782246	Anapc5	anaphase promoting complex subunit 5	gene	DOID:1324	lung cancer		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8782246	Anapc5	anaphase promoting complex subunit 5	gene	DOID:3275	thymoma		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8782246	Anapc5	anaphase promoting complex subunit 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8782246	Anapc5	anaphase promoting complex subunit 5	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8782246	Anapc5	anaphase promoting complex subunit 5	gene	DOID:4362	cervical cancer		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8782246	Anapc5	anaphase promoting complex subunit 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8782246	Anapc5	anaphase promoting complex subunit 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8782246	Anapc5	anaphase promoting complex subunit 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782246	Anapc5	anaphase promoting complex subunit 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8782246	Anapc5	anaphase promoting complex subunit 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8782246	Anapc5	anaphase promoting complex subunit 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8782246	Anapc5	anaphase promoting complex subunit 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8782306	Lipj	lipase family member J	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1603579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
8782306	Lipj	lipase family member J	gene	DOID:5041	esophageal cancer		ISO	RGD:1603579	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8782306	Lipj	lipase family member J	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8782327	Malsu1	mitochondrial assembly of ribosomal large subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8782327	Malsu1	mitochondrial assembly of ribosomal large subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8782327	Malsu1	mitochondrial assembly of ribosomal large subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782327	Malsu1	mitochondrial assembly of ribosomal large subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8782327	Malsu1	mitochondrial assembly of ribosomal large subunit 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8782327	Malsu1	mitochondrial assembly of ribosomal large subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8782340	Sox7	SRY-box transcription factor 7	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1320708	D	RGD:9068941	20220825	MouseDO		OMIM:142340 | OMIM:222400 | OMIM:610187	
8782346	Lrrc10	leucine rich repeat containing 10	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1348592	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
8782346	Lrrc10	leucine rich repeat containing 10	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1348592	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:28166811|PMID:28492532
8782346	Lrrc10	leucine rich repeat containing 10	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1348592	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant	PMID:28492532
8782346	Lrrc10	leucine rich repeat containing 10	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1348592	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:28032242|PMID:28492532
8782346	Lrrc10	leucine rich repeat containing 10	gene	DOID:6000	congestive heart failure		ISO	RGD:1348592	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
8782351	Dnd1	DND microRNA-mediated repression inhibitor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8782351	Dnd1	DND microRNA-mediated repression inhibitor 1	gene	DOID:1115	sarcoma		ISO	RGD:1321748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8782351	Dnd1	DND microRNA-mediated repression inhibitor 1	gene	DOID:1324	lung cancer		ISO	RGD:1321748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8782351	Dnd1	DND microRNA-mediated repression inhibitor 1	gene	DOID:3305	teratocarcinoma		ISO	RGD:1583648	D	RGD:9068941	20210827	RGD		compared to WKY	PMID:22655094|REF_RGD_ID:40924659
8782351	Dnd1	DND microRNA-mediated repression inhibitor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8782351	Dnd1	DND microRNA-mediated repression inhibitor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8782351	Dnd1	DND microRNA-mediated repression inhibitor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782351	Dnd1	DND microRNA-mediated repression inhibitor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8782351	Dnd1	DND microRNA-mediated repression inhibitor 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321748	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:0050580	hereditary lymphedema		ISO	RGD:733488	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary congenital lymphedema	PMID:10835628|PMID:12960217|PMID:20301417|PMID:23074044|PMID:25741868|PMID:30232381
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:0060058	lymphoma		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:0070210	hereditary lymphedema IA		ISO	RGD:733488	D	RGD:7240710	20180912	OMIM			
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:0070210	hereditary lymphedema IA		ISO	RGD:733488	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary lymphedema type I | ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 1	PMID:10835628|PMID:12960217|PMID:15904433|PMID:17250670|PMID:19002718|PMID:19289394|PMID:20301417|PMID:23074044|PMID:24167460|PMID:25741868|PMID:30232381|PMID:30582441|PMID:31564432|PMID:33027564|PMID:34681005|PMID:9817924
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:0070212	hereditary lymphedema I		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary lymphedema type I | ClinVar Annotator: match by term: Milroy's disease	PMID:10835628|PMID:12960217|PMID:15904433|PMID:17250670|PMID:19002718|PMID:19289394|PMID:20301417|PMID:23074044|PMID:24167460|PMID:25741868|PMID:30232381|PMID:30582441|PMID:31564432|PMID:33027564|PMID:34681005|PMID:9817924
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:733488	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:1475	lymphangioma		ISO	RGD:733488	D	RGD:9068941	20200609	RGD		protein:increased expression:;lymphatic endothelial cell:	PMID:17584927|REF_RGD_ID:8552338
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:1520	colon carcinoma		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon	PMID:25741868
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:1657	ventricular septal defect		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:19002718|PMID:24167460
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:1909	melanoma		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:2340	craniosynostosis		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:19002718|PMID:24167460
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:2394	ovarian cancer		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:3307	teratoma		ISO	RGD:733488	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:3963	thyroid gland carcinoma	treatment	ISO	RGD:733488	D	RGD:9068941	20220310	RGD			PMID:32626543|REF_RGD_ID:151665104
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:3982	Meige syndrome		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharospasm-oromandibular dystonia syndrome	
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:418	systemic scleroderma		ISO	RGD:733488	D	RGD:9068941	20200609	RGD		protein:increased expression:skin:	PMID:21865112|REF_RGD_ID:8552335
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:4362	cervical cancer		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733488	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25239121
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:4977	lymphedema		ISO	RGD:733488	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Early onset lymphedema | ClinVar Annotator: match by term: Lymphedema	PMID:10835628|PMID:12960217|PMID:19002718|PMID:20301417|PMID:23074044|PMID:24167460|PMID:25741868|PMID:30232381
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:630	genetic disease		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10835628|PMID:15561887|PMID:15904433|PMID:19002718|PMID:24167460|PMID:25741868|PMID:28492532|PMID:31974414|PMID:36538874|PMID:39392797
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:733488	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28991257
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:9001525	Congenital Heart Defects, Multiple Types, 7		ISO	RGD:733488	D	RGD:7240710	20200226	OMIM			
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:9001525	Congenital Heart Defects, Multiple Types, 7		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7 | ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7	PMID:20301417|PMID:23074044|PMID:25741868|PMID:28991257|PMID:30232381|PMID:30582441|PMID:38713105
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:19002718|PMID:24167460
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19002718|PMID:24167460
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal edema	PMID:12960217|PMID:17250670|PMID:20301417|PMID:24167460|PMID:25741868|PMID:30232381|PMID:30582441|PMID:31564432|PMID:33027564|PMID:34681005
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:9008565	Congenital Heart Defects, Multiple Types		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart defects, multiple types	
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:9008660	Infantile Capillary Hemangioma		ISO	RGD:733488	D	RGD:7240710	20180130	OMIM			
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:9008660	Infantile Capillary Hemangioma		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY	PMID:25741868
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8782359	Flt4	fms related receptor tyrosine kinase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:0060478	Zika fever		ISO	RGD:1558600	D	RGD:9068941	20200702	RGD			PMID:30241539|REF_RGD_ID:32733625
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:1115	sarcoma		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:1324	lung cancer		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:1826	epilepsy		ISO	RGD:1605125	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19558813
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:1909	melanoma		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1605125	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:30661753
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605125	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:8557	oropharynx cancer	disease_progression	ISO	RGD:1605125	D	RGD:9068941	20200702	RGD			PMID:31187548|REF_RGD_ID:32716423
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9000238	Acute-On-Chronic Liver Failure		ISO	RGD:1605125	D	RGD:9068941	20200702	RGD		mRNA, protein:decreased expression:liver	PMID:26234401|REF_RGD_ID:32716425
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9000438	Subarachnoid Hemorrhage	treatment	ISO	RGD:1559716	D	RGD:9068941	20200709	RGD			PMID:29169414|PMID:30226536|REF_RGD_ID:34901873|REF_RGD_ID:35316073
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1605125	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30538632
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9002488	Peritoneal Fibrosis	treatment	ISO	RGD:1559716	D	RGD:9068941	20200702	RGD			PMID:31836774|REF_RGD_ID:32733624
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1605125	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:30661753
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:1559716	D	RGD:9068941	20200709	RGD			PMID:31828147|REF_RGD_ID:35316072
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:1559716	D	RGD:9068941	20200709	RGD		associated with  Crush Injuries	PMID:30465396|REF_RGD_ID:34901874
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1605125	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30538632
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9008022	Temporomandibular Joint Osteoarthritis		ISO	RGD:1559716	D	RGD:9068941	20200709	RGD			PMID:31007149|REF_RGD_ID:34888237
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8782395	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:1558600	D	RGD:9068941	20231019	RGD			PMID:27813192|REF_RGD_ID:401842386
8782418	Frmd7	FERM domain containing 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8782418	Frmd7	FERM domain containing 7	gene	DOID:0050633	ocular albinism 1		ISO	RGD:1352948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ocular albinism	PMID:25741868
8782418	Frmd7	FERM domain containing 7	gene	DOID:0111790	congenital nystagmus 1		ISO	RGD:1352948	D	RGD:7240710	20180130	OMIM			
8782418	Frmd7	FERM domain containing 7	gene	DOID:0111790	congenital nystagmus 1		ISO	RGD:1352948	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FRMD7-related condition | ClinVar Annotator: match by term: Infantile nystagmus, X-linked | ClinVar Annotator: match by term: NYSTAGMUS 1, CONGENITAL, X-LINKED | ClinVar Annotator: match by term: Nystagmus 1, congenital,  X- linked | ClinVar Annotator: match by term: Nystagmus 1, congenital, X-linked | ClinVar Annotator: match by term: Nystagmus, congenital motor, 1 | ClinVar Annotator: match by term: nystagmus 1, congenital, X-linked	PMID:17013395|PMID:17893669|PMID:18087240|PMID:18431453|PMID:19072571|PMID:19484379|PMID:21303855|PMID:22262942|PMID:22490987|PMID:23406872|PMID:24513357|PMID:25678693|PMID:25741868|PMID:27081518|PMID:28492532|PMID:28623544|PMID:28656292|PMID:30025128|PMID:32446246|PMID:33732697|PMID:35052368|PMID:35705619
8782418	Frmd7	FERM domain containing 7	gene	DOID:630	genetic disease		ISO	RGD:1352948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25916882|PMID:28492532
8782418	Frmd7	FERM domain containing 7	gene	DOID:8501	fundus dystrophy		ISO	RGD:1352948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
8782418	Frmd7	FERM domain containing 7	gene	DOID:9001386	Albinism		ISO	RGD:1352948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albinism	PMID:25741868
8782418	Frmd7	FERM domain containing 7	gene	DOID:9005077	Joint Instability		ISO	RGD:1352948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:26268155
8782418	Frmd7	FERM domain containing 7	gene	DOID:9005901	Nystagmus 5, Infantile Periodic Alternating		ISO	RGD:1352948	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED	PMID:25741868|PMID:28492532|PMID:28656292|PMID:32446246|PMID:35705619
8782418	Frmd7	FERM domain containing 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
8782418	Frmd7	FERM domain containing 7	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1352948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
8782438	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1316242	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8782438	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1316242	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	
8782438	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:1115	sarcoma		ISO	RGD:1316242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8782438	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:11832	visual epilepsy		ISO	RGD:1316242	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:20943912
8782438	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1316242	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
8782438	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:1324	lung cancer		ISO	RGD:1316242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8782438	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1316242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
8782438	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1316242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8782438	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:3275	thymoma		ISO	RGD:1316242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8782438	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316242	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8782438	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782438	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:630	genetic disease		ISO	RGD:1316242	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8782438	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8782438	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:9004515	Left Ventricular Noncompaction 7		ISO	RGD:1316242	D	RGD:7240710	20180130	OMIM			
8782438	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:9004515	Left Ventricular Noncompaction 7		ISO	RGD:1316242	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction 7 | ClinVar Annotator: match by term: MIB1-related condition	PMID:23314057|PMID:25741868|PMID:28492532|PMID:30322850|PMID:33057194|PMID:34564127
8782438	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8782438	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8782438	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8782463	Sfxn3	sideroflexin 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8782463	Sfxn3	sideroflexin 3	gene	DOID:1115	sarcoma		ISO	RGD:1345797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8782463	Sfxn3	sideroflexin 3	gene	DOID:1324	lung cancer		ISO	RGD:1345797	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8782463	Sfxn3	sideroflexin 3	gene	DOID:1909	melanoma		ISO	RGD:1345797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8782463	Sfxn3	sideroflexin 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8782463	Sfxn3	sideroflexin 3	gene	DOID:3275	thymoma		ISO	RGD:1345797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8782463	Sfxn3	sideroflexin 3	gene	DOID:4362	cervical cancer		ISO	RGD:1345797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8782463	Sfxn3	sideroflexin 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8782463	Sfxn3	sideroflexin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1345797	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8782463	Sfxn3	sideroflexin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782463	Sfxn3	sideroflexin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8782463	Sfxn3	sideroflexin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8782493	Plk5	polo like kinase 5 (inactive)	gene	DOID:1115	sarcoma		ISO	RGD:2302687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8782493	Plk5	polo like kinase 5 (inactive)	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:2302687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8782493	Plk5	polo like kinase 5 (inactive)	gene	DOID:5041	esophageal cancer		ISO	RGD:2302687	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8782493	Plk5	polo like kinase 5 (inactive)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2302687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782493	Plk5	polo like kinase 5 (inactive)	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2302687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8782524	Tmem128	transmembrane protein 128	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8782539	Vav1	vav guanine nucleotide exchange factor 1	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:737234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437031
8782539	Vav1	vav guanine nucleotide exchange factor 1	gene	DOID:0050902	medulloblastoma		ISO	RGD:737234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
8782539	Vav1	vav guanine nucleotide exchange factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8782539	Vav1	vav guanine nucleotide exchange factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:737234	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8782539	Vav1	vav guanine nucleotide exchange factor 1	gene	DOID:1324	lung cancer		ISO	RGD:737234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8782539	Vav1	vav guanine nucleotide exchange factor 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:737234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8782539	Vav1	vav guanine nucleotide exchange factor 1	gene	DOID:1909	melanoma		ISO	RGD:737234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8782539	Vav1	vav guanine nucleotide exchange factor 1	gene	DOID:2030	anxiety disorder		ISO	RGD:737234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
8782539	Vav1	vav guanine nucleotide exchange factor 1	gene	DOID:289	endometriosis		ISO	RGD:3951	D	RGD:9068941	20200609	RGD		mRNA:increased expression:endometrium	PMID:17845203|REF_RGD_ID:2303708
8782539	Vav1	vav guanine nucleotide exchange factor 1	gene	DOID:3275	thymoma		ISO	RGD:737234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8782539	Vav1	vav guanine nucleotide exchange factor 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:737234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27158780
8782539	Vav1	vav guanine nucleotide exchange factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737234	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8782539	Vav1	vav guanine nucleotide exchange factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:737234	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8782539	Vav1	vav guanine nucleotide exchange factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8782539	Vav1	vav guanine nucleotide exchange factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782539	Vav1	vav guanine nucleotide exchange factor 1	gene	DOID:614	lymphopenia		ISO	RGD:3951	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:thymus	PMID:10433093|REF_RGD_ID:2306005
8782539	Vav1	vav guanine nucleotide exchange factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:3951	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:2064726|REF_RGD_ID:2306008
8782539	Vav1	vav guanine nucleotide exchange factor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8782539	Vav1	vav guanine nucleotide exchange factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8782539	Vav1	vav guanine nucleotide exchange factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8782539	Vav1	vav guanine nucleotide exchange factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8782539	Vav1	vav guanine nucleotide exchange factor 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:3951	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:thymus	PMID:10433093|REF_RGD_ID:2306005
8782579	Arhgap35	Rho GTPase activating protein 35	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8782579	Arhgap35	Rho GTPase activating protein 35	gene	DOID:0060673	Peters anomaly		ISO	RGD:1603059	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis	PMID:25741868|PMID:36450800
8782579	Arhgap35	Rho GTPase activating protein 35	gene	DOID:0090071	hypogonadotropic hypogonadism 11 with or without anosmia		ISO	RGD:1603059	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11 with or without anosmia	PMID:25741868|PMID:36178483
8782579	Arhgap35	Rho GTPase activating protein 35	gene	DOID:0111586	Martsolf syndrome 1		ISO	RGD:1603059	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Martsolf syndrome 1	PMID:25741868
8782579	Arhgap35	Rho GTPase activating protein 35	gene	DOID:10629	microphthalmia		ISO	RGD:1603059	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Bilateral microphthalmos | ClinVar Annotator: match by term: Unilateral microphthalmos	PMID:25741868|PMID:36450800
8782579	Arhgap35	Rho GTPase activating protein 35	gene	DOID:1324	lung cancer		ISO	RGD:1603059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8782579	Arhgap35	Rho GTPase activating protein 35	gene	DOID:1909	melanoma		ISO	RGD:1603059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8782579	Arhgap35	Rho GTPase activating protein 35	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1603059	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27158780
8782579	Arhgap35	Rho GTPase activating protein 35	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8782579	Arhgap35	Rho GTPase activating protein 35	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8782579	Arhgap35	Rho GTPase activating protein 35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782579	Arhgap35	Rho GTPase activating protein 35	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8782579	Arhgap35	Rho GTPase activating protein 35	gene	DOID:9002049	Anophthalmia		ISO	RGD:1603059	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Anophthalmia	PMID:25741868|PMID:36450800
8782579	Arhgap35	Rho GTPase activating protein 35	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603059	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:33057194
8782579	Arhgap35	Rho GTPase activating protein 35	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8782579	Arhgap35	Rho GTPase activating protein 35	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:0112204	developmental and epileptic encephalopathy 68		ISO	RGD:1604830	D	RGD:7240710	20190315	OMIM			
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:0112204	developmental and epileptic encephalopathy 68		ISO	RGD:1604830	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 68 | ClinVar Annotator: match by term: TRAK1-related condition	PMID:25741868|PMID:28492532|PMID:29846532
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:13366	Stiff-Person syndrome		ISO	RGD:1317275	D	RGD:9068941	20220825	MouseDO		OMIM:184850	
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:1824	status epilepticus		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:1909	melanoma		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:3275	thymoma		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604830	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:5419	schizophrenia		ISO	RGD:1604830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:630	genetic disease		ISO	RGD:1604830	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8782605	Trak1	trafficking kinesin protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8782671	Hmgxb4	HMG-box containing 4	gene	DOID:1909	melanoma		ISO	RGD:1314021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8782671	Hmgxb4	HMG-box containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1314021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8782671	Hmgxb4	HMG-box containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782671	Hmgxb4	HMG-box containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8782671	Hmgxb4	HMG-box containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8782713	Slc16a13	solute carrier family 16 member 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8782713	Slc16a13	solute carrier family 16 member 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8782713	Slc16a13	solute carrier family 16 member 13	gene	DOID:1115	sarcoma		ISO	RGD:1354212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8782713	Slc16a13	solute carrier family 16 member 13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8782713	Slc16a13	solute carrier family 16 member 13	gene	DOID:9001915	Short Stature with Nonspecific Skeletal Abnormalities 1		ISO	RGD:1354212	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Short stature with nonspecific skeletal abnormalities 1	PMID:25741868|PMID:34211098
8782728	Plch2	phospholipase C eta 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8782728	Plch2	phospholipase C eta 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8782728	Plch2	phospholipase C eta 2	gene	DOID:1115	sarcoma		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8782728	Plch2	phospholipase C eta 2	gene	DOID:1909	melanoma		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8782728	Plch2	phospholipase C eta 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8782728	Plch2	phospholipase C eta 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8782728	Plch2	phospholipase C eta 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8782728	Plch2	phospholipase C eta 2	gene	DOID:4362	cervical cancer		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8782728	Plch2	phospholipase C eta 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1346590	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8782728	Plch2	phospholipase C eta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782728	Plch2	phospholipase C eta 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8782728	Plch2	phospholipase C eta 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8782728	Plch2	phospholipase C eta 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8782767	Crabp2	cellular retinoic acid binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8782767	Crabp2	cellular retinoic acid binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8782767	Crabp2	cellular retinoic acid binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8782767	Crabp2	cellular retinoic acid binding protein 2	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:731412	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16823967
8782767	Crabp2	cellular retinoic acid binding protein 2	gene	DOID:3070	high grade glioma		ISO	RGD:731412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8782767	Crabp2	cellular retinoic acid binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:731412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8782767	Crabp2	cellular retinoic acid binding protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8782767	Crabp2	cellular retinoic acid binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:731412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8782767	Crabp2	cellular retinoic acid binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782767	Crabp2	cellular retinoic acid binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8782767	Crabp2	cellular retinoic acid binding protein 2	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:731412	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35442568
8782767	Crabp2	cellular retinoic acid binding protein 2	gene	DOID:9002801	Recurrence		ISO	RGD:731412	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8400267
8782767	Crabp2	cellular retinoic acid binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8782788	Zc3h12c	zinc finger CCCH-type containing 12C	gene	DOID:0110034	X-linked Alport syndrome		ISO	RGD:1602083	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: X-linked Alport syndrome	PMID:25741868
8782788	Zc3h12c	zinc finger CCCH-type containing 12C	gene	DOID:10534	stomach cancer		ISO	RGD:1602083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8782788	Zc3h12c	zinc finger CCCH-type containing 12C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8782788	Zc3h12c	zinc finger CCCH-type containing 12C	gene	DOID:1324	lung cancer		ISO	RGD:1602083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8782788	Zc3h12c	zinc finger CCCH-type containing 12C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782788	Zc3h12c	zinc finger CCCH-type containing 12C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8782788	Zc3h12c	zinc finger CCCH-type containing 12C	gene	DOID:8893	psoriasis		ISO	RGD:1602083	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143594
8782788	Zc3h12c	zinc finger CCCH-type containing 12C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8782788	Zc3h12c	zinc finger CCCH-type containing 12C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8782817	Mocos	molybdenum cofactor sulfurase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8782817	Mocos	molybdenum cofactor sulfurase	gene	DOID:0070314	obstructive nephropathy		ISO	RGD:1616767	D	RGD:9068941	20230720	MouseDO			
8782817	Mocos	molybdenum cofactor sulfurase	gene	DOID:0070453	xanthinuria type II		ISO	RGD:1318297	D	RGD:7240710	20190315	OMIM			
8782817	Mocos	molybdenum cofactor sulfurase	gene	DOID:0070453	xanthinuria type II		ISO	RGD:1318297	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MOCOS-related condition | ClinVar Annotator: match by term: XANTHINURIA, TYPE II | ClinVar Annotator: match by term: Xanthinuria type II	PMID:11302742|PMID:16199547|PMID:17368066|PMID:17576681|PMID:25741868|PMID:28492532|PMID:29935280|PMID:34356852|PMID:9536098
8782817	Mocos	molybdenum cofactor sulfurase	gene	DOID:10534	stomach cancer		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8782817	Mocos	molybdenum cofactor sulfurase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8782817	Mocos	molybdenum cofactor sulfurase	gene	DOID:1115	sarcoma		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8782817	Mocos	molybdenum cofactor sulfurase	gene	DOID:12450	pancytopenia		ISO	RGD:1318297	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29935280
8782817	Mocos	molybdenum cofactor sulfurase	gene	DOID:12712	nephronophthisis		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:25741868
8782817	Mocos	molybdenum cofactor sulfurase	gene	DOID:1324	lung cancer		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8782817	Mocos	molybdenum cofactor sulfurase	gene	DOID:1909	melanoma		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8782817	Mocos	molybdenum cofactor sulfurase	gene	DOID:2977	primary hyperoxaluria		ISO	RGD:1318297	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary hyperoxaluria	PMID:25741868
8782817	Mocos	molybdenum cofactor sulfurase	gene	DOID:3275	thymoma		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8782817	Mocos	molybdenum cofactor sulfurase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8782817	Mocos	molybdenum cofactor sulfurase	gene	DOID:5041	esophageal cancer		ISO	RGD:1318297	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8782817	Mocos	molybdenum cofactor sulfurase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782817	Mocos	molybdenum cofactor sulfurase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8782817	Mocos	molybdenum cofactor sulfurase	gene	DOID:865	vasculitis		ISO	RGD:1318297	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29935280
8782817	Mocos	molybdenum cofactor sulfurase	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1318297	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29935280
8782817	Mocos	molybdenum cofactor sulfurase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8782817	Mocos	molybdenum cofactor sulfurase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8782846	Plekho1	pleckstrin homology domain containing O1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8782846	Plekho1	pleckstrin homology domain containing O1	gene	DOID:1909	melanoma		ISO	RGD:1606003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8782846	Plekho1	pleckstrin homology domain containing O1	gene	DOID:3312	bipolar disorder		ISO	RGD:1606003	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
8782846	Plekho1	pleckstrin homology domain containing O1	gene	DOID:4362	cervical cancer		ISO	RGD:1606003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8782846	Plekho1	pleckstrin homology domain containing O1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8782846	Plekho1	pleckstrin homology domain containing O1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8782846	Plekho1	pleckstrin homology domain containing O1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8782861	Immp2l	inner mitochondrial membrane peptidase subunit 2	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1350569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27356265
8782861	Immp2l	inner mitochondrial membrane peptidase subunit 2	gene	DOID:12849	autistic disorder		ISO	RGD:1350569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19401682
8782861	Immp2l	inner mitochondrial membrane peptidase subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782871	Csad	cysteine sulfinic acid decarboxylase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8782871	Csad	cysteine sulfinic acid decarboxylase	gene	DOID:10534	stomach cancer		ISO	RGD:732204	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8782871	Csad	cysteine sulfinic acid decarboxylase	gene	DOID:1324	lung cancer		ISO	RGD:732204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8782871	Csad	cysteine sulfinic acid decarboxylase	gene	DOID:1909	melanoma		ISO	RGD:732204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8782871	Csad	cysteine sulfinic acid decarboxylase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8782871	Csad	cysteine sulfinic acid decarboxylase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8782871	Csad	cysteine sulfinic acid decarboxylase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8782871	Csad	cysteine sulfinic acid decarboxylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782871	Csad	cysteine sulfinic acid decarboxylase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732204	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8782871	Csad	cysteine sulfinic acid decarboxylase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:732204	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
8782871	Csad	cysteine sulfinic acid decarboxylase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8782871	Csad	cysteine sulfinic acid decarboxylase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8782871	Csad	cysteine sulfinic acid decarboxylase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8782912	Tle4	TLE family member 4, transcriptional corepressor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8782912	Tle4	TLE family member 4, transcriptional corepressor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8782912	Tle4	TLE family member 4, transcriptional corepressor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8782912	Tle4	TLE family member 4, transcriptional corepressor	gene	DOID:1909	melanoma		ISO	RGD:733230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8782912	Tle4	TLE family member 4, transcriptional corepressor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8782912	Tle4	TLE family member 4, transcriptional corepressor	gene	DOID:305	carcinoma		ISO	RGD:733230	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8782912	Tle4	TLE family member 4, transcriptional corepressor	gene	DOID:3275	thymoma		ISO	RGD:733230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8782912	Tle4	TLE family member 4, transcriptional corepressor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8782912	Tle4	TLE family member 4, transcriptional corepressor	gene	DOID:4362	cervical cancer		ISO	RGD:733230	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8782912	Tle4	TLE family member 4, transcriptional corepressor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8782912	Tle4	TLE family member 4, transcriptional corepressor	gene	DOID:5041	esophageal cancer		ISO	RGD:733230	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8782912	Tle4	TLE family member 4, transcriptional corepressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782912	Tle4	TLE family member 4, transcriptional corepressor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8782912	Tle4	TLE family member 4, transcriptional corepressor	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:733230	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8782912	Tle4	TLE family member 4, transcriptional corepressor	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:733230	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8782912	Tle4	TLE family member 4, transcriptional corepressor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8782912	Tle4	TLE family member 4, transcriptional corepressor	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:733230	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8782912	Tle4	TLE family member 4, transcriptional corepressor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8782912	Tle4	TLE family member 4, transcriptional corepressor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8782942	Efnb1	ephrin B1	gene	DOID:0002116	pterygium		ISO	RGD:737327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pterygium	
8782942	Efnb1	ephrin B1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8782942	Efnb1	ephrin B1	gene	DOID:0081044	frontonasal dysplasia		ISO	RGD:737327	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15166289
8782942	Efnb1	ephrin B1	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:737327	D	RGD:9068941	20220811	RGD		mRNA:increased expression:stomach (human)	PMID:12136247|REF_RGD_ID:153323289
8782942	Efnb1	ephrin B1	gene	DOID:10629	microphthalmia		ISO	RGD:737327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unilateral microphthalmos	PMID:25741868
8782942	Efnb1	ephrin B1	gene	DOID:14737	craniofrontonasal syndrome		ISO	RGD:737327	D	RGD:7240710	20180130	OMIM			
8782942	Efnb1	ephrin B1	gene	DOID:14737	craniofrontonasal syndrome		ISO	RGD:737327	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CRANIOFRONTONASAL SYNDROME | ClinVar Annotator: match by term: Craniofrontonasal dysplasia | ClinVar Annotator: match by term: Craniofrontonasal syndrome | ClinVar Annotator: match by term: EFNB1-related condition	PMID:15124102|PMID:15166289|PMID:15959873|PMID:16199547|PMID:16685650|PMID:18043713|PMID:18627045|PMID:20565770|PMID:23335590|PMID:25486017|PMID:25741868|PMID:26586496|PMID:27194971|PMID:28492532|PMID:31837199|PMID:32240825|PMID:34174922|PMID:34602953|PMID:39864628
8782942	Efnb1	ephrin B1	gene	DOID:1934	dysostosis		ISO	RGD:737327	D	RGD:9068941	20200609	RGD		DNA:missense mutations, deletion	PMID:15124102|REF_RGD_ID:1599802
8782942	Efnb1	ephrin B1	gene	DOID:2340	craniosynostosis		ISO	RGD:737327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33288889|PMID:9536098
8782942	Efnb1	ephrin B1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8782942	Efnb1	ephrin B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782942	Efnb1	ephrin B1	gene	DOID:630	genetic disease		ISO	RGD:737327	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11780069|PMID:15166289|PMID:15959873|PMID:16685650|PMID:18627045|PMID:27884935|PMID:28492532|PMID:31862858|PMID:31974414|PMID:34174922
8782942	Efnb1	ephrin B1	gene	DOID:9003133	Hypertelorism		ISO	RGD:737327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
8782942	Efnb1	ephrin B1	gene	DOID:9005329	Preaxial Polydactyly		ISO	RGD:737327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preaxial-polydactyly	PMID:25741868
8782942	Efnb1	ephrin B1	gene	DOID:9005372	Inflammation		ISO	RGD:737327	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24098442
8782942	Efnb1	ephrin B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8782942	Efnb1	ephrin B1	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:737327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:15124102|PMID:16685650|PMID:18043713|PMID:20565770|PMID:25741868|PMID:28492532|PMID:31837199
8782942	Efnb1	ephrin B1	gene	DOID:9970	obesity		ISO	RGD:737327	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24098442
8782956	Ybx1	Y-box binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8782956	Ybx1	Y-box binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:732883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8782956	Ybx1	Y-box binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8782956	Ybx1	Y-box binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:732883	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8782956	Ybx1	Y-box binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:732883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8782956	Ybx1	Y-box binding protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8782956	Ybx1	Y-box binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:732883	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8782956	Ybx1	Y-box binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782956	Ybx1	Y-box binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8782956	Ybx1	Y-box binding protein 1	gene	DOID:9000300	Refractory Anemia		ISO	RGD:732883	D	RGD:9068941	20200609	RGD			PMID:14604279|REF_RGD_ID:1580637
8782956	Ybx1	Y-box binding protein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:732883	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16012952
8782956	Ybx1	Y-box binding protein 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:732883	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28077578
8782956	Ybx1	Y-box binding protein 1	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:732883	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15703814
8782956	Ybx1	Y-box binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8782956	Ybx1	Y-box binding protein 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732883	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15703814
8782956	Ybx1	Y-box binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8782965	Bphl	biphenyl hydrolase like	gene	DOID:10534	stomach cancer		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8782965	Bphl	biphenyl hydrolase like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8782965	Bphl	biphenyl hydrolase like	gene	DOID:1115	sarcoma		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8782965	Bphl	biphenyl hydrolase like	gene	DOID:1324	lung cancer		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8782965	Bphl	biphenyl hydrolase like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8782965	Bphl	biphenyl hydrolase like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8782965	Bphl	biphenyl hydrolase like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782965	Bphl	biphenyl hydrolase like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8782965	Bphl	biphenyl hydrolase like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8782965	Bphl	biphenyl hydrolase like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8782991	Psca	prostate stem cell antigen	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321185	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8782991	Psca	prostate stem cell antigen	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1321185	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28220687
8782991	Psca	prostate stem cell antigen	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321185	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19648920|PMID:20083643
8782991	Psca	prostate stem cell antigen	gene	DOID:1115	sarcoma		ISO	RGD:1321185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8782991	Psca	prostate stem cell antigen	gene	DOID:1724	duodenal ulcer		ISO	RGD:1321185	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22387998
8782991	Psca	prostate stem cell antigen	gene	DOID:4023	linitis plastica		ISO	RGD:1321185	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18488030
8782991	Psca	prostate stem cell antigen	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8782991	Psca	prostate stem cell antigen	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1321185	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18488030|PMID:26098866
8782991	Psca	prostate stem cell antigen	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1321185	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16015594
8782991	Psca	prostate stem cell antigen	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:1321185	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28220687
8783003	Alg9	ALG9 alpha-1,2-mannosyltransferase	gene	DOID:0050770	polycystic liver disease		ISO	RGD:1342764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Polycystic liver disease	PMID:25741868|PMID:31395617
8783003	Alg9	ALG9 alpha-1,2-mannosyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8783003	Alg9	ALG9 alpha-1,2-mannosyltransferase	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1342764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type	PMID:25741868|PMID:25966638|PMID:31395617
8783003	Alg9	ALG9 alpha-1,2-mannosyltransferase	gene	DOID:0080564	congenital disorder of glycosylation Il		ISO	RGD:1342764	D	RGD:7240710	20180130	OMIM			
8783003	Alg9	ALG9 alpha-1,2-mannosyltransferase	gene	DOID:0080564	congenital disorder of glycosylation Il		ISO	RGD:1342764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation | ClinVar Annotator: match by term: CDG Il | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il	PMID:15148656|PMID:16199547|PMID:17576681|PMID:25741868|PMID:25966638|PMID:26467025|PMID:28122681|PMID:28492532|PMID:31395617|PMID:32398770|PMID:36326140|PMID:9536098
8783003	Alg9	ALG9 alpha-1,2-mannosyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1342764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8783003	Alg9	ALG9 alpha-1,2-mannosyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1342764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8783003	Alg9	ALG9 alpha-1,2-mannosyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8783003	Alg9	ALG9 alpha-1,2-mannosyltransferase	gene	DOID:2975	cystic kidney disease		ISO	RGD:1342764	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Familial cystic renal disease	PMID:25741868|PMID:39899384
8783003	Alg9	ALG9 alpha-1,2-mannosyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1342764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8783003	Alg9	ALG9 alpha-1,2-mannosyltransferase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8783003	Alg9	ALG9 alpha-1,2-mannosyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1342764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8783003	Alg9	ALG9 alpha-1,2-mannosyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783003	Alg9	ALG9 alpha-1,2-mannosyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1342764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8783003	Alg9	ALG9 alpha-1,2-mannosyltransferase	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1342764	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	PMID:25741868|PMID:39899384
8783003	Alg9	ALG9 alpha-1,2-mannosyltransferase	gene	DOID:9001306	Gillessen-Kaesbach-Nishimura Dysplasia		ISO	RGD:1342764	D	RGD:7240710	20190315	OMIM			
8783003	Alg9	ALG9 alpha-1,2-mannosyltransferase	gene	DOID:9001306	Gillessen-Kaesbach-Nishimura Dysplasia		ISO	RGD:1342764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALG9-associated autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome	PMID:25741868|PMID:25966638|PMID:26467025|PMID:28122681|PMID:28492532|PMID:31395617|PMID:32398770|PMID:36326140
8783003	Alg9	ALG9 alpha-1,2-mannosyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8783003	Alg9	ALG9 alpha-1,2-mannosyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8783038	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8783038	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1603215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8783038	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1603215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8783038	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:1909	melanoma		ISO	RGD:1603215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8783038	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:3275	thymoma		ISO	RGD:1603215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8783038	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1603215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8783038	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783038	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:6039	uveal melanoma		ISO	RGD:1603215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8783038	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603215	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8783038	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8783038	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8783038	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:620137	D	RGD:9068941	20200609	RGD			PMID:19368990|REF_RGD_ID:4891964
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:0081267	graft-versus-host disease	severity	ISO	RGD:1352124	D	RGD:9068941	20200609	RGD			PMID:17264819|REF_RGD_ID:4892014
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:0110024	age related macular degeneration 12		ISO	RGD:1352124	D	RGD:7240710	20180130	OMIM			
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:0110024	age related macular degeneration 12		ISO	RGD:1352124	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Age related macular degeneration 12	PMID:25741868
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:10754	otitis media	susceptibility	ISO	RGD:1352124	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.T280M (human)	PMID:24718616|REF_RGD_ID:9491764
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:10762	portal hypertension		ISO	RGD:620137	D	RGD:9068941	20200609	RGD			PMID:21347560|REF_RGD_ID:9491791
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:11382	corneal neovascularization		ISO	RGD:1552004	D	RGD:9068941	20200609	RGD			PMID:18322241|REF_RGD_ID:9365153
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:1552004	D	RGD:9068941	20200609	RGD			PMID:20524966|REF_RGD_ID:9354422
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:620137	D	RGD:9068941	20200609	RGD			PMID:15341587|REF_RGD_ID:1358720
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:620137	D	RGD:9068941	20200609	RGD			PMID:20921832|REF_RGD_ID:9491396
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:11563	retinal vasculitis		ISO	RGD:1352124	D	RGD:9068941	20200609	RGD		DNA:missense mutations, haplotypes:cds:p.V249I, p.T280M (human)	PMID:16799040|REF_RGD_ID:9491394
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1552004	D	RGD:9068941	20200609	RGD			PMID:16424189|REF_RGD_ID:4892016
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:1273	respiratory syncytial virus infectious disease	severity	ISO	RGD:1552004	D	RGD:9068941	20200609	RGD			PMID:12941892|REF_RGD_ID:4892018
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:13141	uveitis		ISO	RGD:620137	D	RGD:9068941	20200609	RGD		associated with Endotoxemia;mRNA, protein:increased expression:retina	PMID:19648777|REF_RGD_ID:4891945
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:1556	arthus reaction		ISO	RGD:1552004	D	RGD:9068941	20200609	RGD			PMID:23470165|REF_RGD_ID:9068463
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:1679	cystitis		ISO	RGD:620137	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder urothelium	PMID:16651033|REF_RGD_ID:4891972
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:1686	glaucoma		ISO	RGD:1552004	D	RGD:9068941	20200609	RGD			PMID:24989686|REF_RGD_ID:9384823
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:1824	status epilepticus	treatment	ISO	RGD:620137	D	RGD:9068941	20200609	RGD			PMID:21481949|REF_RGD_ID:9491789
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:1936	atherosclerosis		ISO	RGD:1552004	D	RGD:9068941	20200609	RGD			PMID:23887641|REF_RGD_ID:9479739
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:1552004	D	RGD:9068941	20200609	RGD			PMID:12600915|REF_RGD_ID:4891900
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:2527	nephrosis		ISO	RGD:620137	D	RGD:9068941	20200609	RGD			PMID:19590241|REF_RGD_ID:4891946
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:2841	asthma		ISO	RGD:1352124	D	RGD:9068941	20200609	RGD		DNA:SNPs: :p.V249I, rs2669849 (human)	PMID:17082760|REF_RGD_ID:4891895
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:2841	asthma		ISO	RGD:1552004	D	RGD:9068941	20200609	RGD			PMID:21037587|REF_RGD_ID:4891882
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:2841	asthma	no_association	ISO	RGD:1352124	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :p.V249I, p.T280M (human)	PMID:17505143|REF_RGD_ID:4891904
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:2921	glomerulonephritis		ISO	RGD:620137	D	RGD:9068941	20200609	RGD			PMID:10432400|REF_RGD_ID:4892027
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:2921	glomerulonephritis		ISO	RGD:620137	D	RGD:9068941	20200609	RGD		mRNA:increased expression:glomerulus	PMID:14605272|REF_RGD_ID:4891995
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:3275	thymoma		ISO	RGD:1352124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:3310	atopic dermatitis		ISO	RGD:1352124	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood, leukocyte	PMID:15131578|REF_RGD_ID:9491761
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:3310	atopic dermatitis		ISO	RGD:1552004	D	RGD:9068941	20200609	RGD			PMID:24821910|REF_RGD_ID:9491393
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:3612	retinitis		ISO	RGD:1552004	D	RGD:9068941	20200609	RGD			PMID:24142887|REF_RGD_ID:8661224
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:418	systemic scleroderma		ISO	RGD:1352124	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :p.V249I, p.T280M (human)	PMID:16584113|REF_RGD_ID:4891896
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:418	systemic scleroderma		ISO	RGD:1352124	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, skin	PMID:15608300|REF_RGD_ID:4891898
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:418	systemic scleroderma		ISO	RGD:1552004	D	RGD:9068941	20200609	RGD			PMID:23142052|REF_RGD_ID:9479741
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:4448	macular degeneration		ISO	RGD:11275	D	RGD:9068941	20200609	RGD			PMID:17652758|REF_RGD_ID:9491385
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:4448	macular degeneration		ISO	RGD:1352124	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.T280M (human)	PMID:15944936|REF_RGD_ID:9479078
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:4448	macular degeneration		ISO	RGD:1352124	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.V249I (human)	PMID:22816662|REF_RGD_ID:9491395
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:4448	macular degeneration		ISO	RGD:1352124	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.V249I, p.T280M (human)	PMID:15208270|REF_RGD_ID:9491390
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:4448	macular degeneration	no_association	ISO	RGD:1352124	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.T280M (human)	PMID:22816662|REF_RGD_ID:9491395
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:4448	macular degeneration	no_association	ISO	RGD:1352124	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.V249I, p.T280M (rs3732379, rs3732378) (human)	PMID:25050486|REF_RGD_ID:9491392
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:620137	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:glomerulus	PMID:19590241|REF_RGD_ID:4891946
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:4992	optic nerve glioma	onset	ISO	RGD:1552004	D	RGD:9068941	20200609	RGD		associated with Neurofibromatosis 1	PMID:23424002|REF_RGD_ID:9491391
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:5154	borna disease		ISO	RGD:620137	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:12053272|REF_RGD_ID:4891998
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1352124	D	RGD:7240710	20230505	OMIM			
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:6000	congestive heart failure		ISO	RGD:620137	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:  paraventricular nucleus of hypothalamus	PMID:24036597|REF_RGD_ID:9491792
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:6195	conjunctivitis		ISO	RGD:1552004	D	RGD:9068941	20200609	RGD			PMID:22692452|REF_RGD_ID:9491751
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1352124	D	RGD:9068941	20200609	RGD		associated with Scleroderma, Systemic;DNA:polymorphisms: :p.V249I, p.T280M (human)	PMID:16584113|REF_RGD_ID:4891896
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:620137	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:17182651|REF_RGD_ID:4891893
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:649	prion disease		ISO	RGD:620137	D	RGD:9068941	20200609	RGD		protein:increased expression:microglial cell	PMID:11870871|REF_RGD_ID:4892001
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:8466	retinal degeneration		ISO	RGD:1352124	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20361964
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:8466	retinal degeneration		ISO	RGD:1552004	D	RGD:9068941	20200609	RGD			PMID:22545116|REF_RGD_ID:9479077
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:8893	psoriasis		ISO	RGD:1352124	D	RGD:9068941	20200609	RGD		DNA:SNP, missense mutation:intron, cds: , p.T280M (human)	PMID:17002687|REF_RGD_ID:9491384
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:900	hepatopulmonary syndrome	treatment	ISO	RGD:620137	D	RGD:9068941	20200609	RGD			PMID:22659346|REF_RGD_ID:9491778
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9000528	Coronary Disease		ISO	RGD:1352124	D	RGD:7240710	20230505	OMIM			
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9000528	Coronary Disease		ISO	RGD:1352124	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Coronary heart disease, susceptibility to, 1	PMID:25741868
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9000641	Pain		ISO	RGD:620137	D	RGD:9068941	20200609	RGD		associated with Bone Neoplasms	PMID:20736819|REF_RGD_ID:4892020
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9000965	Neoplasm Metastasis	susceptibility	ISO	RGD:1352124	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms	PMID:16627550|REF_RGD_ID:4892015
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9001341	Chloracne		ISO	RGD:1352124	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1552004	D	RGD:9068941	20200609	RGD			PMID:20609517|REF_RGD_ID:4891885
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1552004	D	RGD:9068941	20200609	RGD		associated with Inflammation	PMID:20524966|REF_RGD_ID:9354422
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:620137	D	RGD:9068941	20200609	RGD			PMID:16324111|REF_RGD_ID:9387859
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:620137	D	RGD:9068941	20200609	RGD		associated with  Arthritis, Experimental;protein:increased expression:lumbar spinal cord	PMID:22647647|REF_RGD_ID:9491779
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:620137	D	RGD:9068941	20200609	RGD		associated with Bone Neoplasms	PMID:20736819|REF_RGD_ID:4892020
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:620137	D	RGD:9068941	20200609	RGD		associated with Sciatic Neuropathy	PMID:19959384|REF_RGD_ID:4891942
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:620137	D	RGD:9068941	20200609	RGD			PMID:11465708|REF_RGD_ID:4892002
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:620137	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:17123734|REF_RGD_ID:4891969
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:620137	D	RGD:9068941	20200609	RGD			PMID:16053521|PMID:24706865|REF_RGD_ID:4891973|REF_RGD_ID:9491767
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9003870	Herpes Simplex Encephalitis		ISO	RGD:1552004	D	RGD:9068941	20200609	RGD			PMID:22377584|REF_RGD_ID:8661752
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9004484	Sepsis		ISO	RGD:1352124	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, macrophage	PMID:19733456|REF_RGD_ID:4144897
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1552004	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:cochlea	PMID:24781382|REF_RGD_ID:9491762
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9005070	Microscopic Polyangiitis		ISO	RGD:1352124	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, T cell	PMID:19327232|REF_RGD_ID:9491765
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9005372	Inflammation		ISO	RGD:1552004	D	RGD:9068941	20200609	RGD			PMID:23299473|REF_RGD_ID:9375525
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9005372	Inflammation		ISO	RGD:620137	D	RGD:9068941	20200609	RGD		associated with Temporomandibular Joint Disorders	PMID:23110394|REF_RGD_ID:9491768
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9005396	Intimal Hyperplasia		ISO	RGD:1552004	D	RGD:9068941	20200609	RGD			PMID:20836883|REF_RGD_ID:8661636
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620137	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:15153757|REF_RGD_ID:4891992
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9005647	Experimental Autoimmune Uveitis		ISO	RGD:1552004	D	RGD:9068941	20200609	RGD			PMID:19689733|REF_RGD_ID:9491397
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9005647	Experimental Autoimmune Uveitis		ISO	RGD:620137	D	RGD:9068941	20200609	RGD			PMID:16030495|REF_RGD_ID:9479740
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9005665	Chronic Mesangial Proliferative Glomerulonephritis		ISO	RGD:620137	D	RGD:9068941	20200609	RGD			PMID:12028445|REF_RGD_ID:9491783
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9006086	Intervertebral Disc Displacement		ISO	RGD:620137	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:21224760|REF_RGD_ID:4891907
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:620137	D	RGD:9068941	20200609	RGD			PMID:18448252|REF_RGD_ID:4891968
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:1352124	D	RGD:9068941	20200609	RGD			PMID:18257903|REF_RGD_ID:4891891
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:1352124	D	RGD:9068941	20200609	RGD		DNA:SNP: :p.T280M (human)	PMID:16645504|REF_RGD_ID:4891905
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1352124	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood, monocyte	PMID:15786508|REF_RGD_ID:4892017
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:620137	D	RGD:9068941	20200609	RGD			PMID:23855980|REF_RGD_ID:9491766
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9074	systemic lupus erythematosus	severity	ISO	RGD:1352124	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood, mononuclear cell	PMID:21180278|REF_RGD_ID:6893428
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:1552004	D	RGD:9068941	20200609	RGD			PMID:23307960|REF_RGD_ID:9491759
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9477	pulmonary embolism	treatment	ISO	RGD:620137	D	RGD:9068941	20200609	RGD			PMID:23578461|REF_RGD_ID:9491777
8783087	Cx3cr1	C-X3-C motif chemokine receptor 1	gene	DOID:9970	obesity		ISO	RGD:1352124	D	RGD:9068941	20200609	RGD		DNA:SNP: :p.T280M (human)	PMID:20523302|REF_RGD_ID:4891903
8783102	Pax3	paired box 3	gene	DOID:0080016	spina bifida		ISO	RGD:1351352	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12854658|PMID:17149730|PMID:3902948|PMID:6385329
8783102	Pax3	paired box 3	gene	DOID:0080074	neural tube defect		ISO	RGD:1351352	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:12739027|PMID:12854658|PMID:3293260
8783102	Pax3	paired box 3	gene	DOID:0080074	neural tube defect		ISO	RGD:1552573	D	RGD:9068941	20220825	MouseDO		OMIM:182940 | OMIM:301410 | OMIM:601634	
8783102	Pax3	paired box 3	gene	DOID:0080171	esophageal atresia/tracheoesophageal fistula		ISO	RGD:1351352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula	PMID:20127975|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9654197
8783102	Pax3	paired box 3	gene	DOID:0080799	sinonasal undifferentiated carcinoma		ISO	RGD:1351352	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24859338
8783102	Pax3	paired box 3	gene	DOID:0110498	autosomal recessive nonsyndromic deafness 4		ISO	RGD:1351352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enlarged vestibular aqueduct syndrome	PMID:25741868
8783102	Pax3	paired box 3	gene	DOID:0110948	Waardenburg syndrome type 1		ISO	RGD:1351352	D	RGD:7240710	20200812	OMIM			
8783102	Pax3	paired box 3	gene	DOID:0110948	Waardenburg syndrome type 1		ISO	RGD:1351352	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: WAARDENBURG SYNDROME TYPE 1 | ClinVar Annotator: match by term: WAARDENBURG SYNDROME WITH DYSTOPIA CANTHORUM | ClinVar Annotator: match by term: WAARDENBURG SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Waardenburg syndrome type 1	PMID:10942418|PMID:12414908|PMID:12666593|PMID:1308353|PMID:1347148|PMID:1347149|PMID:1349198|PMID:16199547|PMID:18325909|PMID:20127975|PMID:20199465|PMID:20301703|PMID:20478267|PMID:23512835|PMID:24033266|PMID:24651602|PMID:25525159|PMID:25736269|PMID:25741868|PMID:25991456|PMID:26149688|PMID:26275939|PMID:26467025|PMID:26512583|PMID:27759048|PMID:28381738|PMID:28492532|PMID:28686331|PMID:29158168|PMID:29407415|PMID:30311386|PMID:30854529|PMID:30936914|PMID:30978479|PMID:31541171|PMID:32747562|PMID:34008892|PMID:34142234|PMID:34599368|PMID:36756824|PMID:7825605|PMID:8019556|PMID:8447316|PMID:8490648|PMID:8533800|PMID:858969|PMID:8589691|PMID:8799378|PMID:8845842|PMID:8863157|PMID:9017978|PMID:9067759|PMID:9192262|PMID:9232624|PMID:9279758|PMID:9302254|PMID:9584079|PMID:9654197|PMID:9856573
8783102	Pax3	paired box 3	gene	DOID:0110949	Waardenburg syndrome type 3		ISO	RGD:1351352	D	RGD:7240710	20180130	OMIM			
8783102	Pax3	paired box 3	gene	DOID:0110949	Waardenburg syndrome type 3		ISO	RGD:1351352	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: WAARDENBURG SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Waardenburg syndrome type 3 | ClinVar Annotator: match by term: Waardenburg syndrome with upper limb anomalies	PMID:1347148|PMID:20127975|PMID:20199465|PMID:20478267|PMID:23512835|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26275939|PMID:27759048|PMID:28492532|PMID:30311386|PMID:30978479|PMID:32747562|PMID:34008892|PMID:34142234|PMID:34599368|PMID:7726174|PMID:8019556|PMID:8490648|PMID:8533800|PMID:8589691|PMID:8799378|PMID:9654197
8783102	Pax3	paired box 3	gene	DOID:0111336	craniofacial-deafness-hand syndrome		ISO	RGD:1351352	D	RGD:7240710	20180130	OMIM			
8783102	Pax3	paired box 3	gene	DOID:0111336	craniofacial-deafness-hand syndrome		ISO	RGD:1351352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CRANIOFACIAL-DEAFNESS-HAND SYNDROME | ClinVar Annotator: match by term: Craniofacial-deafness-hand syndrome	PMID:20199465|PMID:20478267|PMID:24033266|PMID:25736269|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29407415|PMID:30311386|PMID:32747562|PMID:8589691|PMID:8799378|PMID:8863157|PMID:9584079|PMID:9654197|PMID:9856573
8783102	Pax3	paired box 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1351352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:20127975|PMID:23512835|PMID:25525159|PMID:25741868|PMID:26275939|PMID:27759048|PMID:28492532|PMID:30311386|PMID:30978479|PMID:34008892|PMID:34599368|PMID:8019556
8783102	Pax3	paired box 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1351352	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:1347148|PMID:20127975|PMID:23512835|PMID:25525159|PMID:25741868|PMID:26275939|PMID:27759048|PMID:28492532|PMID:30311386|PMID:30978479|PMID:34008892|PMID:34142234|PMID:34599368|PMID:8019556|PMID:8490648|PMID:8533800
8783102	Pax3	paired box 3	gene	DOID:1059	intellectual disability		ISO	RGD:1351352	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:18325909|PMID:25741868|PMID:28381738|PMID:28492532|PMID:28686331|PMID:29407415
8783102	Pax3	paired box 3	gene	DOID:10907	microcephaly		ISO	RGD:1351352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8783102	Pax3	paired box 3	gene	DOID:1115	sarcoma		ISO	RGD:1351352	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24859338
8783102	Pax3	paired box 3	gene	DOID:11383	cryptorchidism		ISO	RGD:1351352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
8783102	Pax3	paired box 3	gene	DOID:12698	gynecomastia		ISO	RGD:1351352	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gynecomastia	PMID:1347148|PMID:20127975|PMID:23512835|PMID:25525159|PMID:25741868|PMID:26275939|PMID:27759048|PMID:28492532|PMID:30311386|PMID:30978479|PMID:34008892|PMID:34142234|PMID:34599368|PMID:8019556|PMID:8490648|PMID:8533800
8783102	Pax3	paired box 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8783102	Pax3	paired box 3	gene	DOID:2340	craniosynostosis		ISO	RGD:1351352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
8783102	Pax3	paired box 3	gene	DOID:4051	alveolar rhabdomyosarcoma		ISO	RGD:1351352	D	RGD:7240710	20180130	OMIM			
8783102	Pax3	paired box 3	gene	DOID:4051	alveolar rhabdomyosarcoma		ISO	RGD:1351352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2	PMID:20199465|PMID:20478267|PMID:25741868|PMID:28492532|PMID:30311386|PMID:32747562|PMID:8589691|PMID:8799378|PMID:9654197
8783102	Pax3	paired box 3	gene	DOID:4202	brain stem glioma		ISO	RGD:1552573	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:brain stem:	PMID:25330836|REF_RGD_ID:13702891
8783102	Pax3	paired box 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1351352	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8783102	Pax3	paired box 3	gene	DOID:630	genetic disease		ISO	RGD:1351352	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:28492532|PMID:36087940
8783102	Pax3	paired box 3	gene	DOID:9001767	Unilateral Hearing Loss		ISO	RGD:1351352	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Unilateral deafness	PMID:1347148|PMID:20127975|PMID:23512835|PMID:25525159|PMID:25741868|PMID:26275939|PMID:27759048|PMID:28492532|PMID:30311386|PMID:30978479|PMID:34008892|PMID:34142234|PMID:34599368|PMID:8019556|PMID:8490648|PMID:8533800
8783102	Pax3	paired box 3	gene	DOID:9003133	Hypertelorism		ISO	RGD:1351352	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:1347148|PMID:20127975|PMID:23512835|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26275939|PMID:27759048|PMID:28492532|PMID:30311386|PMID:30978479|PMID:34008892|PMID:34142234|PMID:34599368|PMID:8019556|PMID:8490648|PMID:8533800|PMID:9654197
8783102	Pax3	paired box 3	gene	DOID:9003591	Telecanthus		ISO	RGD:1351352	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:1347148|PMID:20127975|PMID:23512835|PMID:25525159|PMID:25741868|PMID:26275939|PMID:27759048|PMID:28492532|PMID:30311386|PMID:30978479|PMID:34008892|PMID:34142234|PMID:34599368|PMID:8019556|PMID:8490648|PMID:8533800
8783102	Pax3	paired box 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1351352	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
8783102	Pax3	paired box 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1351352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: hearing loss	PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386
8783102	Pax3	paired box 3	gene	DOID:9004795	Congenital Hand Deformities		ISO	RGD:1351352	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14556253
8783102	Pax3	paired box 3	gene	DOID:9005282	Branchioma		ISO	RGD:1351352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Branchial cyst	
8783102	Pax3	paired box 3	gene	DOID:9005496	Diaphragmatic Hernia 1		ISO	RGD:1351352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diaphragmatic hernia 1	PMID:24033266|PMID:25736269|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29407415|PMID:8589691|PMID:8863157|PMID:9584079|PMID:9856573
8783102	Pax3	paired box 3	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1351352	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7556916
8783102	Pax3	paired box 3	gene	DOID:9007388	Heterochromia Iridis		ISO	RGD:1351352	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Heterochromia iridis	PMID:1347148|PMID:20127975|PMID:23512835|PMID:25525159|PMID:25741868|PMID:26275939|PMID:27759048|PMID:28492532|PMID:30311386|PMID:30978479|PMID:34008892|PMID:34142234|PMID:34599368|PMID:8019556|PMID:8490648|PMID:8533800
8783102	Pax3	paired box 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1351352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8783102	Pax3	paired box 3	gene	DOID:9008681	Deafness		ISO	RGD:1351352	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14556253
8783102	Pax3	paired box 3	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1351352	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14556253
8783102	Pax3	paired box 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8783102	Pax3	paired box 3	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1351352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
8783102	Pax3	paired box 3	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:620431	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:heart (rat)	PMID:15616818|REF_RGD_ID:1580942
8783102	Pax3	paired box 3	gene	DOID:9258	Waardenburg syndrome		ISO	RGD:1351352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Waardenburg syndrome	PMID:1349198|PMID:24033266|PMID:25736269|PMID:25741868|PMID:26467025|PMID:26512583|PMID:28492532|PMID:28686331|PMID:29407415|PMID:30311386|PMID:30854529|PMID:34142234|PMID:8533800|PMID:8589691|PMID:8863157|PMID:9017978|PMID:9584079|PMID:9654197|PMID:9856573
8783134	Jpt2	Jupiter microtubule associated homolog 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8783134	Jpt2	Jupiter microtubule associated homolog 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8783134	Jpt2	Jupiter microtubule associated homolog 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1312960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8783134	Jpt2	Jupiter microtubule associated homolog 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8783134	Jpt2	Jupiter microtubule associated homolog 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8783134	Jpt2	Jupiter microtubule associated homolog 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8783171	Hpcal1	hippocalcin like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8783171	Hpcal1	hippocalcin like 1	gene	DOID:0110242	cataract 13 with adult i phenotype		ISO	RGD:1348150	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cataract 13 with adult I phenotype	PMID:25741868
8783171	Hpcal1	hippocalcin like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8783171	Hpcal1	hippocalcin like 1	gene	DOID:1909	melanoma		ISO	RGD:1348150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8783171	Hpcal1	hippocalcin like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783171	Hpcal1	hippocalcin like 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348150	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8783182	Washc5	WASH complex subunit 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8783182	Washc5	WASH complex subunit 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8783182	Washc5	WASH complex subunit 5	gene	DOID:0060058	lymphoma		ISO	RGD:1605096	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8783182	Washc5	WASH complex subunit 5	gene	DOID:0060565	Ritscher-Schinzel syndrome		ISO	RGD:1605096	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CRANIOCEREBELLOCARDIAC DYSPLASIA | ClinVar Annotator: match by term: Ritscher-Schinzel syndrome	PMID:23455931|PMID:24065355|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30564185|PMID:30778698|PMID:31814071|PMID:34983064
8783182	Washc5	WASH complex subunit 5	gene	DOID:0060571	Ritscher-Schinzel syndrome 1		ISO	RGD:1605096	D	RGD:7240710	20181010	OMIM			
8783182	Washc5	WASH complex subunit 5	gene	DOID:0060571	Ritscher-Schinzel syndrome 1		ISO	RGD:1605096	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1	PMID:24065355|PMID:25741868|PMID:26467025|PMID:28492532
8783182	Washc5	WASH complex subunit 5	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
8783182	Washc5	WASH complex subunit 5	gene	DOID:0110799	hereditary spastic paraplegia 47		ISO	RGD:1605096	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 47	PMID:24065355|PMID:25614869|PMID:25741868|PMID:29768361|PMID:31911435
8783182	Washc5	WASH complex subunit 5	gene	DOID:0110823	hereditary spastic paraplegia 8		ISO	RGD:1605096	D	RGD:7240710	20180130	OMIM			
8783182	Washc5	WASH complex subunit 5	gene	DOID:0110823	hereditary spastic paraplegia 8		ISO	RGD:1605096	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 8 | ClinVar Annotator: match by term: WASHC5-related condition	PMID:10797436|PMID:16199547|PMID:17160902|PMID:17576681|PMID:20301727|PMID:23455931|PMID:24065355|PMID:24123792|PMID:24451228|PMID:24759409|PMID:24824269|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30564185|PMID:30778698|PMID:31814071|PMID:32816195|PMID:34983064|PMID:9536098
8783182	Washc5	WASH complex subunit 5	gene	DOID:10534	stomach cancer		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8783182	Washc5	WASH complex subunit 5	gene	DOID:1059	intellectual disability		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8783182	Washc5	WASH complex subunit 5	gene	DOID:1115	sarcoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8783182	Washc5	WASH complex subunit 5	gene	DOID:1389	polyneuropathy		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868
8783182	Washc5	WASH complex subunit 5	gene	DOID:1909	melanoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:26467025|PMID:28492532
8783182	Washc5	WASH complex subunit 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:26467025|PMID:28492532
8783182	Washc5	WASH complex subunit 5	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1605096	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia	PMID:17160902|PMID:25741868|PMID:26467025|PMID:28492532
8783182	Washc5	WASH complex subunit 5	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1605096	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:17160902|PMID:20301727|PMID:20833645|PMID:23085491|PMID:24215330|PMID:25741868|PMID:26467025|PMID:26637979|PMID:27957547|PMID:28492532|PMID:28514442|PMID:31911435|PMID:32326241|PMID:32816195|PMID:33726816|PMID:34184482|PMID:38028608
8783182	Washc5	WASH complex subunit 5	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:26467025|PMID:28492532
8783182	Washc5	WASH complex subunit 5	gene	DOID:3275	thymoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:26467025|PMID:28492532
8783182	Washc5	WASH complex subunit 5	gene	DOID:4188	echolalia		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Echolalia	PMID:25741868
8783182	Washc5	WASH complex subunit 5	gene	DOID:4362	cervical cancer		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8783182	Washc5	WASH complex subunit 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1605096	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8783182	Washc5	WASH complex subunit 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8783182	Washc5	WASH complex subunit 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8783182	Washc5	WASH complex subunit 5	gene	DOID:6039	uveal melanoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:26467025|PMID:28492532
8783182	Washc5	WASH complex subunit 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:26467025|PMID:28492532
8783182	Washc5	WASH complex subunit 5	gene	DOID:630	genetic disease		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:30564185|PMID:31814071
8783182	Washc5	WASH complex subunit 5	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:26467025|PMID:28492532
8783182	Washc5	WASH complex subunit 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8783182	Washc5	WASH complex subunit 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8783182	Washc5	WASH complex subunit 5	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8783182	Washc5	WASH complex subunit 5	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
8783182	Washc5	WASH complex subunit 5	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1605096	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:17576681|PMID:28492532|PMID:9536098
8783182	Washc5	WASH complex subunit 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8783182	Washc5	WASH complex subunit 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532
8783182	Washc5	WASH complex subunit 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:26467025|PMID:28492532
8783221	Mab21l3	mab-21 like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8783221	Mab21l3	mab-21 like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8783221	Mab21l3	mab-21 like 3	gene	DOID:1909	melanoma		ISO	RGD:1602303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:10534	stomach cancer		ISO	RGD:734202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:1115	sarcoma		ISO	RGD:734202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:1790	malignant mesothelioma		ISO	RGD:734202	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:2018	hyperinsulinism		ISO	RGD:734202	D	RGD:9068941	20200609	RGD		protein:increased expression::mouse model overexpressing human transgene, fasting plasma insulin increased 2.5-fold, glucose disposal and uptake into muscle reduced	PMID:11309481|REF_RGD_ID:1642735
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:2394	ovarian cancer		ISO	RGD:734202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:3275	thymoma		ISO	RGD:734202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:734202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:4362	cervical cancer		ISO	RGD:734202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:734202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:5041	esophageal cancer		ISO	RGD:734202	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:734202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:6000	congestive heart failure		ISO	RGD:734202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28751527
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:734202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:9000918	Disease Progression		ISO	RGD:734202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:9001437	Aplasia or Hypoplasia of Breasts and/or Nipples 2		ISO	RGD:734202	D	RGD:7240710	20180130	OMIM			
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:9001437	Aplasia or Hypoplasia of Breasts and/or Nipples 2		ISO	RGD:734202	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Breasts and/or nipples, aplasia or hypoplasia of, 2 | ClinVar Annotator: match by term: PTPRF-related condition	PMID:25741868|PMID:28492532
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:734202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28751527
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:9007692	Insulin Resistance		ISO	RGD:734202	D	RGD:9068941	20200609	RGD		protein:increased activity, increased expression:skeletal muscle:activity increased to 140-170% of control in insulin-resistant obese (BMI>30) nondiabetic subjects (p<0.05); activity decreased to 39% in obese NIDDM subjects (p<0.05)	PMID:9218523|REF_RGD_ID:1642733
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:9007692	Insulin Resistance		ISO	RGD:734202	D	RGD:9068941	20200609	RGD		protein:increased expression::mouse model overexpressing human transgene, fasting plasma insulin increased 2.5-fold, glucose disposal and uptake into muscle reduced	PMID:11309481|REF_RGD_ID:1642735
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:9970	obesity		ISO	RGD:3453	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle:increased 42% in insulin-resistant obese (fa/fa) and 50% in diabetic (ZDF/Drt-fa/fa) Zucker rats (P<0.05)	PMID:7666792|REF_RGD_ID:1642732
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:9970	obesity		ISO	RGD:734202	D	RGD:9068941	20200609	RGD		protein:increased activity, increased expression:skeletal muscle:activity increased to 140-170% of control in insulin-resistant obese (BMI>30) nondiabetic subjects (p<0.05); activity decreased to 39% in obese NIDDM subjects (p<0.05)	PMID:9218523|REF_RGD_ID:1642733
8783238	Ptprf	protein tyrosine phosphatase receptor type F	gene	DOID:9970	obesity		ISO	RGD:734202	D	RGD:9068941	20200609	RGD		protein:increased expression, increased activity:subcutaneous adipose tissue:2.03-fold higher activity in obese than lean individuals (P < 0.001)	PMID:7769120|REF_RGD_ID:1642727
8783294	Palmd	palmdelphin	gene	DOID:10534	stomach cancer		ISO	RGD:1313763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8783294	Palmd	palmdelphin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8783294	Palmd	palmdelphin	gene	DOID:5041	esophageal cancer		ISO	RGD:1313763	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8783294	Palmd	palmdelphin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8783294	Palmd	palmdelphin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313763	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8783294	Palmd	palmdelphin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:0070605	autosomal dominant nonsyndromic deafness 85		ISO	RGD:1351270	D	RGD:7240710	20230215	OMIM			
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:0070605	autosomal dominant nonsyndromic deafness 85		ISO	RGD:1351270	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 85	
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:10283	prostate cancer		ISO	RGD:1351270	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:10283	prostate cancer		ISO	RGD:1351270	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:10534	stomach cancer		ISO	RGD:1351270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:1059	intellectual disability		ISO	RGD:1351270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26666178
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:1115	sarcoma		ISO	RGD:1351270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:1324	lung cancer		ISO	RGD:1351270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:1909	melanoma		ISO	RGD:1351270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:3275	thymoma		ISO	RGD:1351270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:4362	cervical cancer		ISO	RGD:1351270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:670	amphetamine abuse		ISO	RGD:1351270	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1351270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8783313	Usp48	ubiquitin specific peptidase 48	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1351270	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30718926
8783345	Canx	calnexin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8783345	Canx	calnexin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8783345	Canx	calnexin	gene	DOID:1115	sarcoma		ISO	RGD:737068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8783345	Canx	calnexin	gene	DOID:1324	lung cancer		ISO	RGD:737068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8783345	Canx	calnexin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8783345	Canx	calnexin	gene	DOID:4362	cervical cancer		ISO	RGD:737068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8783345	Canx	calnexin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8783345	Canx	calnexin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783345	Canx	calnexin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8783345	Canx	calnexin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8783345	Canx	calnexin	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:737068	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8783345	Canx	calnexin	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:737068	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8783345	Canx	calnexin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8783345	Canx	calnexin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8783345	Canx	calnexin	gene	DOID:9970	obesity		ISO	RGD:737068	D	RGD:9068941	20200609	RGD		protein:increased expression:subcutaneous adipose tissue	PMID:18567819|REF_RGD_ID:2314284
8783366	Slc25a23	solute carrier family 25 member 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8783366	Slc25a23	solute carrier family 25 member 23	gene	DOID:1324	lung cancer		ISO	RGD:1343183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8783366	Slc25a23	solute carrier family 25 member 23	gene	DOID:4362	cervical cancer		ISO	RGD:1343183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8783366	Slc25a23	solute carrier family 25 member 23	gene	DOID:5041	esophageal cancer		ISO	RGD:1343183	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8783366	Slc25a23	solute carrier family 25 member 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783366	Slc25a23	solute carrier family 25 member 23	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8783366	Slc25a23	solute carrier family 25 member 23	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8783366	Slc25a23	solute carrier family 25 member 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8783380	Dpp9	dipeptidyl peptidase 9	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1350502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23583980
8783380	Dpp9	dipeptidyl peptidase 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8783380	Dpp9	dipeptidyl peptidase 9	gene	DOID:10534	stomach cancer		ISO	RGD:1350502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8783380	Dpp9	dipeptidyl peptidase 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8783380	Dpp9	dipeptidyl peptidase 9	gene	DOID:1324	lung cancer		ISO	RGD:1350502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8783380	Dpp9	dipeptidyl peptidase 9	gene	DOID:1909	melanoma		ISO	RGD:1350502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8783380	Dpp9	dipeptidyl peptidase 9	gene	DOID:4362	cervical cancer		ISO	RGD:1350502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8783380	Dpp9	dipeptidyl peptidase 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8783380	Dpp9	dipeptidyl peptidase 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1350502	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8783380	Dpp9	dipeptidyl peptidase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783380	Dpp9	dipeptidyl peptidase 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8783380	Dpp9	dipeptidyl peptidase 9	gene	DOID:9008764	Immunodeficiency 111		ISO	RGD:1350502	D	RGD:7240710	20230505	OMIM			
8783380	Dpp9	dipeptidyl peptidase 9	gene	DOID:9008764	Immunodeficiency 111		ISO	RGD:1350502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: HATIPOGLU IMMUNODEFICIENCY SYNDROME | ClinVar Annotator: match by term: Hatipoglu immunodeficiency syndrome	PMID:25741868|PMID:36112693
8783380	Dpp9	dipeptidyl peptidase 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8783419	Tnip2	TNFAIP3 interacting protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8783419	Tnip2	TNFAIP3 interacting protein 2	gene	DOID:1909	melanoma		ISO	RGD:1317070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8783419	Tnip2	TNFAIP3 interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783419	Tnip2	TNFAIP3 interacting protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8783419	Tnip2	TNFAIP3 interacting protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8783419	Tnip2	TNFAIP3 interacting protein 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1317070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:0051080	Alport syndrome 3B		ISO	RGD:736518	D	RGD:7240710	20260506	OMIM			
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:0051080	Alport syndrome 3B		ISO	RGD:736518	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Alport syndrome 3b, autosomal recessive	PMID:12028435|PMID:24854265|PMID:25741868|PMID:26628280|PMID:28492532|PMID:39810285
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:736518	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:0110032	Alport syndrome 3A		ISO	RGD:736518	D	RGD:7240710	20180130	OMIM			
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:0110032	Alport syndrome 3A		ISO	RGD:736518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT	PMID:12028435|PMID:14582039|PMID:15880327|PMID:24033266|PMID:25741868|PMID:28492532|PMID:38012624
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:0110033	Alport syndrome 2		ISO	RGD:736518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome	PMID:23297803|PMID:24033266|PMID:25741868|PMID:28492532
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:0111365	benign familial hematuria		ISO	RGD:736518	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria	PMID:11134255|PMID:11961012|PMID:12028435|PMID:14582039|PMID:14871398|PMID:15880327|PMID:17216251|PMID:17576681|PMID:19525337|PMID:20847057|PMID:22887978|PMID:23325022|PMID:23927549|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24130771|PMID:24633401|PMID:25229338|PMID:25307543|PMID:2557550|PMID:25575550|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27485810|PMID:27627812|PMID:28492532|PMID:28570636|PMID:28780565|PMID:29098738|PMID:29644057|PMID:29854973|PMID:29946535|PMID:30406062|PMID:30476138|PMID:30487145|PMID:30586318|PMID:30661074|PMID:30773290|PMID:31328266|PMID:32359821|PMID:32647767|PMID:32939031|PMID:33532864|PMID:34400539|PMID:36013122|PMID:9536098
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:0111365	benign familial hematuria		ISO	RGD:736518	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria	PMID:11134255|PMID:11961012|PMID:12028435|PMID:14582039|PMID:14871398|PMID:15880327|PMID:17216251|PMID:19525337|PMID:23325022|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24130771|PMID:25229338|PMID:25307543|PMID:2557550|PMID:25575550|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27391953|PMID:27485810|PMID:27627812|PMID:28492532|PMID:28780565|PMID:29098738|PMID:29644057|PMID:29854973|PMID:29946535|PMID:30406062|PMID:30476138|PMID:30487145|PMID:30586318|PMID:30647093|PMID:30661074|PMID:30773290|PMID:31328266|PMID:32359821|PMID:32647767|PMID:32723786|PMID:32939031|PMID:33040356|PMID:33532864|PMID:33712733|PMID:33851121|PMID:33980730|PMID:34400539|PMID:34662886|PMID:35325889|PMID:35372954|PMID:36013122|PMID:36117978|PMID:36130833|PMID:36925663|PMID:36938085|PMID:37086329|PMID:37248651|PMID:37362409|PMID:37849993|PMID:38214412
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:0111365	benign familial hematuria		ISO	RGD:736518	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria	PMID:24033266|PMID:25741868|PMID:28492532|PMID:39810285
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:736518	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:10983	Alport syndrome		ISO	RGD:736518	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Alport syndrome	PMID:11044206|PMID:11134255|PMID:11961012|PMID:12028435|PMID:1400291|PMID:14582039|PMID:14871398|PMID:15880327|PMID:15954103|PMID:16199547|PMID:17216251|PMID:18385178|PMID:18436078|PMID:19525337|PMID:20847057|PMID:21157337|PMID:21862460|PMID:21897443|PMID:22887978|PMID:23927549|PMID:23967202|PMID:24033266|PMID:24052634|PMID:24130771|PMID:24633401|PMID:24854265|PMID:24944784|PMID:25229338|PMID:25307543|PMID:25407002|PMID:25450602|PMID:25514610|PMID:25575550|PMID:25596306|PMID:25741868|PMID:25888712|PMID:26277931|PMID:26346198|PMID:26467025|PMID:26795916|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27391953|PMID:27485810|PMID:27627812|PMID:27859054|PMID:27932480|PMID:28117080|PMID:28492532|PMID:28542346|PMID:28570636|PMID:28632965|PMID:28658201|PMID:28780565|PMID:29127259|PMID:29204651|PMID:29270492|PMID:29271581|PMID:29854973|PMID:29924831|PMID:30245029|PMID:30295827|PMID:30311386|PMID:30406062|PMID:30661074|PMID:30773290|PMID:30819905|PMID:30881523|PMID:30883042|PMID:31027891|PMID:31256874|PMID:31477057|PMID:31865346|PMID:32860008|PMID:33369211|PMID:33532864|PMID:7780062|PMID:7987301|PMID:7987396|PMID:8956999|PMID:9195222|PMID:9269635
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:10983	Alport syndrome		ISO	RGD:736518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria	PMID:12028435|PMID:14582039|PMID:15880327|PMID:22887978|PMID:23297803|PMID:23927549|PMID:24633401|PMID:24854265|PMID:25741868|PMID:26809805|PMID:27281700|PMID:28492532|PMID:28570636|PMID:29801666|PMID:33772369|PMID:35369551|PMID:36117978|PMID:36239278|PMID:37097554|PMID:38012624|PMID:8956999
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:10983	Alport syndrome	susceptibility	ISO	RGD:736518	D	RGD:9068941	20200609	RGD		DNA:deletion, nonsense mutations	PMID:7987301|REF_RGD_ID:1600924
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:2921	glomerulonephritis		ISO	RGD:71085	D	RGD:9068941	20200609	RGD			PMID:11158397|REF_RGD_ID:1600928
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:2975	cystic kidney disease		ISO	RGD:736518	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868|PMID:39810285
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:576	proteinuria		ISO	RGD:736518	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868|PMID:39810285
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:630	genetic disease		ISO	RGD:736518	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12028435|PMID:22887978|PMID:23927549|PMID:24033266|PMID:24052634|PMID:24633401|PMID:24854265|PMID:25741868|PMID:26809805|PMID:27281700|PMID:27391953|PMID:28492532|PMID:28570636|PMID:31328266|PMID:32723786|PMID:33040356|PMID:33369211|PMID:37097554|PMID:8956999|PMID:9724608
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:630	genetic disease		ISO	RGD:736518	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12028435|PMID:22887978|PMID:23927549|PMID:24033266|PMID:24052634|PMID:24633401|PMID:24854265|PMID:2557550|PMID:25575550|PMID:25596306|PMID:25741868|PMID:26809805|PMID:27281700|PMID:27391953|PMID:28492532|PMID:28570636|PMID:28780565|PMID:30586318|PMID:31328266|PMID:32647767|PMID:32723786|PMID:32939031|PMID:33040356|PMID:33369211|PMID:34400539|PMID:34993602|PMID:36130833|PMID:37097554|PMID:37248651|PMID:8956999|PMID:9724608
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:630	genetic disease		ISO	RGD:736518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12028435|PMID:25741868|PMID:28492532
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:783	end stage renal disease		ISO	RGD:736518	D	RGD:9068941	20200609	RGD			PMID:19357112|REF_RGD_ID:7242047
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:784	chronic kidney disease		ISO	RGD:736518	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868|PMID:39810285
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:9000363	Hematuria		ISO	RGD:736518	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hematuria	PMID:25741868|PMID:39810285
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:9003097	Benign Familial Hematuria 2		ISO	RGD:736518	D	RGD:7240710	20230505	OMIM			
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:9003097	Benign Familial Hematuria 2		ISO	RGD:736518	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hematuria, benign familial, 2	PMID:12028435|PMID:25741868|PMID:28492532|PMID:40949880
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:9004538	Hearing Loss		ISO	RGD:736518	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness	PMID:11044206|PMID:11961012|PMID:12028435|PMID:14582039|PMID:14871398|PMID:17216251|PMID:21157337|PMID:21897443|PMID:23967202|PMID:24033266|PMID:24130771|PMID:25229338|PMID:25307543|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26809805|PMID:27932480|PMID:28492532|PMID:28658201|PMID:29204651|PMID:29271581|PMID:30311386|PMID:30819905|PMID:31027891|PMID:31256874|PMID:31477057|PMID:31865346|PMID:7987301|PMID:9269635
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:9004538	Hearing Loss		ISO	RGD:736518	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:9006352	Benign Familial Hematuria 1		ISO	RGD:736518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematuria, benign familial, 1	PMID:24033266|PMID:25741868|PMID:28492532
8783455	Col4a3	collagen type IV alpha 3 chain	gene	DOID:9006608	Lung Carcinoid Tumors	severity	ISO	RGD:736518	D	RGD:9068941	20220303	RGD		mRNA:decreased expression:lung (human)	PMID:25105010|REF_RGD_ID:151660336
8783512	Tbcb	tubulin folding cofactor B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8783512	Tbcb	tubulin folding cofactor B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8783512	Tbcb	tubulin folding cofactor B	gene	DOID:0070718	neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia		ISO	RGD:1320593	D	RGD:7240710	20260603	OMIM			
8783512	Tbcb	tubulin folding cofactor B	gene	DOID:0070718	neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia		ISO	RGD:1320593	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CHILDHOOD-ONSET SPASTIC PARAPLEGIA	
8783512	Tbcb	tubulin folding cofactor B	gene	DOID:10534	stomach cancer		ISO	RGD:1320593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8783512	Tbcb	tubulin folding cofactor B	gene	DOID:4362	cervical cancer		ISO	RGD:1320593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8783512	Tbcb	tubulin folding cofactor B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783512	Tbcb	tubulin folding cofactor B	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1320593	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085005
8783512	Tbcb	tubulin folding cofactor B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8783512	Tbcb	tubulin folding cofactor B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8783522	Baz1a	bromodomain adjacent to zinc finger domain 1A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8783522	Baz1a	bromodomain adjacent to zinc finger domain 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8783522	Baz1a	bromodomain adjacent to zinc finger domain 1A	gene	DOID:0111766	X-linked VACTERL association		ISO	RGD:1314679	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations	
8783522	Baz1a	bromodomain adjacent to zinc finger domain 1A	gene	DOID:10534	stomach cancer		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8783522	Baz1a	bromodomain adjacent to zinc finger domain 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8783522	Baz1a	bromodomain adjacent to zinc finger domain 1A	gene	DOID:1115	sarcoma		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8783522	Baz1a	bromodomain adjacent to zinc finger domain 1A	gene	DOID:1909	melanoma		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8783522	Baz1a	bromodomain adjacent to zinc finger domain 1A	gene	DOID:3070	high grade glioma		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8783522	Baz1a	bromodomain adjacent to zinc finger domain 1A	gene	DOID:4362	cervical cancer		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8783522	Baz1a	bromodomain adjacent to zinc finger domain 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783522	Baz1a	bromodomain adjacent to zinc finger domain 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8783522	Baz1a	bromodomain adjacent to zinc finger domain 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8783522	Baz1a	bromodomain adjacent to zinc finger domain 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8783522	Baz1a	bromodomain adjacent to zinc finger domain 1A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8783522	Baz1a	bromodomain adjacent to zinc finger domain 1A	gene	DOID:9256	colorectal cancer		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8783574	Derl2	derlin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8783574	Derl2	derlin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783574	Derl2	derlin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8783584	Cndp2	carnosine dipeptidase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8783584	Cndp2	carnosine dipeptidase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8783584	Cndp2	carnosine dipeptidase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1314094	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: intellectual disabilities	PMID:25741868
8783584	Cndp2	carnosine dipeptidase 2	gene	DOID:1324	lung cancer		ISO	RGD:1314094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8783584	Cndp2	carnosine dipeptidase 2	gene	DOID:3070	high grade glioma		ISO	RGD:1314094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8783584	Cndp2	carnosine dipeptidase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8783584	Cndp2	carnosine dipeptidase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8783584	Cndp2	carnosine dipeptidase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314094	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8783584	Cndp2	carnosine dipeptidase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783584	Cndp2	carnosine dipeptidase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8783584	Cndp2	carnosine dipeptidase 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1314094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21573905
8783584	Cndp2	carnosine dipeptidase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8783584	Cndp2	carnosine dipeptidase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8783584	Cndp2	carnosine dipeptidase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8783584	Cndp2	carnosine dipeptidase 2	gene	DOID:9452	steatotic liver disease		ISO	RGD:1314094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:0060260	ptosis		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aganglionic megacolon	
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:1059	intellectual disability		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disability	PMID:25741868|PMID:33944996
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:11476	osteoporosis		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoporosis	
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:12849	autistic disorder		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:33944996
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:1682	congenital heart disease		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:1826	epilepsy		ISO	RGD:1317694	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:33944996
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:1891	optic nerve disease		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868|PMID:33944996
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:1969	cerebral palsy		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:33944996
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:2030	anxiety disorder		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:33944996
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:3070	high grade glioma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:3275	thymoma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:480	movement disease		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:33944996
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1317694	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:630	genetic disease		ISO	RGD:1317694	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33057194|PMID:33944996
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317694	D	RGD:9068941	20210416	RGD		mRNA:decreased expression:liver	PMID:26517514|REF_RGD_ID:11537550
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hashimoto thyroiditis	
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:769	neuroblastoma		ISO	RGD:1317694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26121086
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:8927	learning disability		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9000495	Tremor		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:33944996
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:33944996
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9002801	Recurrence		ISO	RGD:1317694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26121086
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9003182	Parenti-Mignot Neurodevelopmental Syndrome		ISO	RGD:1317694	D	RGD:7240710	20221116	OMIM			
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9003182	Parenti-Mignot Neurodevelopmental Syndrome		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHD5-related condition | ClinVar Annotator: match by term: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: Parenti-mignot neurodevelopmental syndrome	PMID:25741868|PMID:27616479|PMID:28492532|PMID:30397230|PMID:33944996
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9003539	Hyperacusis		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868|PMID:33944996
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317694	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:33944996
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:33944996
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:33944996
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317694	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:33944996
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1317694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278247
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8783600	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:936	brain disease		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:33944996
8783653	Acsm1	acyl-CoA synthetase medium chain family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8783653	Acsm1	acyl-CoA synthetase medium chain family member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8783653	Acsm1	acyl-CoA synthetase medium chain family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1315639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8783653	Acsm1	acyl-CoA synthetase medium chain family member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8783653	Acsm1	acyl-CoA synthetase medium chain family member 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8783653	Acsm1	acyl-CoA synthetase medium chain family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8783653	Acsm1	acyl-CoA synthetase medium chain family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315639	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8783653	Acsm1	acyl-CoA synthetase medium chain family member 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1315639	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17114358
8783671	Apoo	apolipoprotein O	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8783671	Apoo	apolipoprotein O	gene	DOID:1324	lung cancer		ISO	RGD:1603962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8783671	Apoo	apolipoprotein O	gene	DOID:1909	melanoma		ISO	RGD:1603962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8783671	Apoo	apolipoprotein O	gene	DOID:3275	thymoma		ISO	RGD:1603962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8783671	Apoo	apolipoprotein O	gene	DOID:3650	lactic acidosis		ISO	RGD:1603962	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	
8783671	Apoo	apolipoprotein O	gene	DOID:4362	cervical cancer		ISO	RGD:1603962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8783671	Apoo	apolipoprotein O	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8783671	Apoo	apolipoprotein O	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783671	Apoo	apolipoprotein O	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8783693	Cers4	ceramide synthase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8783693	Cers4	ceramide synthase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8783693	Cers4	ceramide synthase 4	gene	DOID:1115	sarcoma		ISO	RGD:1319578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8783693	Cers4	ceramide synthase 4	gene	DOID:1324	lung cancer		ISO	RGD:1319578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8783693	Cers4	ceramide synthase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1319578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8783693	Cers4	ceramide synthase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8783693	Cers4	ceramide synthase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1319578	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8783693	Cers4	ceramide synthase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783693	Cers4	ceramide synthase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8783693	Cers4	ceramide synthase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8783693	Cers4	ceramide synthase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8783708	Tbc1d19	TBC1 domain family member 19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8783708	Tbc1d19	TBC1 domain family member 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8783708	Tbc1d19	TBC1 domain family member 19	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8783708	Tbc1d19	TBC1 domain family member 19	gene	DOID:1324	lung cancer		ISO	RGD:1343247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8783708	Tbc1d19	TBC1 domain family member 19	gene	DOID:4362	cervical cancer		ISO	RGD:1343247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8783708	Tbc1d19	TBC1 domain family member 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1343247	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8783708	Tbc1d19	TBC1 domain family member 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783708	Tbc1d19	TBC1 domain family member 19	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8783708	Tbc1d19	TBC1 domain family member 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8783708	Tbc1d19	TBC1 domain family member 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8783733	Asb5	ankyrin repeat and SOCS box containing 5	gene	DOID:1324	lung cancer		ISO	RGD:1352084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8783733	Asb5	ankyrin repeat and SOCS box containing 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8783733	Asb5	ankyrin repeat and SOCS box containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8783759	Ttr	transthyretin	gene	DOID:0050451	Brugada syndrome		ISO	RGD:737331	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:10439123|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29875424|PMID:31371117|PMID:35903975
8783759	Ttr	transthyretin	gene	DOID:0050581	brachydactyly		ISO	RGD:737331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:37091313
8783759	Ttr	transthyretin	gene	DOID:0050638	hereditary systemic amyloidosis 1		ISO	RGD:737331	D	RGD:7240710	20180130	OMIM			
8783759	Ttr	transthyretin	gene	DOID:0050638	hereditary systemic amyloidosis 1		ISO	RGD:737331	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AMYLOIDOSIS, HEREDITARY SYSTEMIC 1 | ClinVar Annotator: match by term: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | ClinVar Annotator: match by term: Amyloid Cardiomyopathy, Transthyretin-related | ClinVar Annotator: match by term: Amyloidosis, hereditary systemic 1 | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis | ClinVar Annotator: match by term: TRANSTHYRETIN AMYLOIDOSIS	PMID:10036587|PMID:10071047|PMID:10211412|PMID:10436378|PMID:10439117|PMID:10449136|PMID:10488818|PMID:10506096|PMID:10611949|PMID:10611950|PMID:10671063|PMID:10762172|PMID:10794728|PMID:10842705|PMID:10842715|PMID:10842720|PMID:10845569|PMID:10882995|PMID:11261421|PMID:11385707|PMID:11445644|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12000196|PMID:12050338|PMID:12101461|PMID:12217248|PMID:12228058|PMID:12351683|PMID:12557756|PMID:12557757|PMID:12757474|PMID:12762139|PMID:12771253|PMID:12779320|PMID:12874413|PMID:12874414|PMID:1301926|PMID:1330202|PMID:1335038|PMID:1350083|PMID:1351039|PMID:1353861|PMID:1355416|PMID:1358785|PMID:1362222|PMID:1436517|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14640031|PMID:14724437|PMID:14968122|PMID:15079068|PMID:15110620|PMID:15123043|PMID:15185492|PMID:15185498|PMID:15185501|PMID:1520326|PMID:15205369|PMID:15214015|PMID:15217993|PMID:15299640|PMID:15377697|PMID:1544214|PMID:15645642|PMID:15753613|PMID:15793844|PMID:15820680|PMID:16011990|PMID:16053476|PMID:16076613|PMID:16194874|PMID:16199547|PMID:16217058|PMID:16387053|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16448460|PMID:16530227|PMID:16631014|PMID:16631015|PMID:16971399|PMID:17028027|PMID:17062380|PMID:17143887|PMID:17251346|PMID:17431450|PMID:17453626|PMID:17484624|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17558848|PMID:17576681|PMID:17577687|PMID:17577688|PMID:1786038|PMID:17968687|PMID:17968690|PMID:18022643|PMID:18042262|PMID:18069997|PMID:18276611|PMID:18318779|PMID:1850190|PMID:1850191|PMID:18830126|PMID:18925456|PMID:19118530|PMID:19180884|PMID:19428025|PMID:19467548|PMID:19491989|PMID:19602727|PMID:19644733|PMID:19752327|PMID:19781421|PMID:1979335|PMID:1981182|PMID:19922332|PMID:1997217|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:20536403|PMID:20660862|PMID:20697105|PMID:20840742|PMID:20937937|PMID:20981092|PMID:21135536|PMID:2122246|PMID:21406045|PMID:21490715|PMID:21540676|PMID:21600538|PMID:2161654|PMID:21679902|PMID:21692911|PMID:21838434|PMID:21838472|PMID:21843040|PMID:21992998|PMID:22083004|PMID:22106346|PMID:22149423|PMID:22184092|PMID:22187309|PMID:22209138|PMID:22320251|PMID:22332999|PMID:2237288|PMID:22400056|PMID:22412233|PMID:22494066|PMID:22580845|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22747647|PMID:22877808|PMID:22928869|PMID:22973891|PMID:22995991|PMID:23126592|PMID:23240369|PMID:23278526|PMID:23279339|PMID:23317988|PMID:23346293|PMID:23438977|PMID:2349941|PMID:23523753|PMID:2363717|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23905621|PMID:24033266|PMID:24053266|PMID:24061768|PMID:24070600|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24358189|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24613567|PMID:24633258|PMID:24650283|PMID:24664531|PMID:24767411|PMID:24818650|PMID:24955979|PMID:25044787|PMID:25130926|PMID:25291558|PMID:25382970|PMID:25395306|PMID:25408161|PMID:25430583|PMID:25471118|PMID:25488473|PMID:25526974|PMID:25551524|PMID:25628512|PMID:25636337|PMID:25644864|PMID:25721874|PMID:25741868|PMID:25819286|PMID:25828388|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26115788|PMID:26123279|PMID:26123280|PMID:2613237|PMID:26156087|PMID:26208957|PMID:26243339|PMID:26361241|PMID:26369527|PMID:26428663|PMID:26467025|PMID:26521788|PMID:26537620|PMID:26600212|PMID:26656838|PMID:26828956|PMID:26894299|PMID:26959691|PMID:26986100|PMID:27025994|PMID:27033334|PMID:27066555|PMID:27143678|PMID:27188913|PMID:27212199|PMID:27238058|PMID:27273296|PMID:27386769|PMID:27501389|PMID:27562180|PMID:27618855|PMID:27646980|PMID:27652282|PMID:27720586|PMID:27724962|PMID:27758856|PMID:27838833|PMID:27858761|PMID:27859927|PMID:28102864|PMID:28272196|PMID:2840822|PMID:28434367|PMID:28475415|PMID:28484271|PMID:28492532|PMID:28494620|PMID:28508289|PMID:28605421|PMID:28635949|PMID:28646538|PMID:28739313|PMID:28790153|PMID:28802308
8783759	Ttr	transthyretin	gene	DOID:0050638	hereditary systemic amyloidosis 1		ISO	RGD:737331	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AMYLOIDOSIS, HEREDITARY SYSTEMIC 1 | ClinVar Annotator: match by term: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | ClinVar Annotator: match by term: Amyloid Cardiomyopathy, Transthyretin-related | ClinVar Annotator: match by term: Amyloidosis, hereditary systemic 1 | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis | ClinVar Annotator: match by term: TRANSTHYRETIN AMYLOIDOSIS	PMID:28878402|PMID:28911993|PMID:2891727|PMID:28991715|PMID:29016222|PMID:29048471|PMID:29246775|PMID:29277593|PMID:29407121|PMID:29455155|PMID:29493581|PMID:29520877|PMID:29524093|PMID:29607936|PMID:29764897|PMID:29801893|PMID:29875424|PMID:29883834|PMID:29941560|PMID:29970125|PMID:29984770|PMID:30070416|PMID:30093168|PMID:30198232|PMID:30243104|PMID:3030336|PMID:30311386|PMID:3032328|PMID:30328212|PMID:30350904|PMID:30595768|PMID:30604309|PMID:30638075|PMID:30683924|PMID:30685801|PMID:30813263|PMID:30847666|PMID:30938420|PMID:3097057|PMID:30981840|PMID:31006018|PMID:31074293|PMID:31103217|PMID:31133063|PMID:31135624|PMID:31139689|PMID:31178489|PMID:31257920|PMID:31343330|PMID:31353960|PMID:31359320|PMID:31368669|PMID:31371117|PMID:31502881|PMID:31517333|PMID:31554435|PMID:31589614|PMID:31648569|PMID:31659433|PMID:31676763|PMID:31718691|PMID:31740141|PMID:31821430|PMID:31826067|PMID:31980526|PMID:32150461|PMID:32376792|PMID:32395865|PMID:32578459|PMID:32674397|PMID:32740500|PMID:32741838|PMID:32749600|PMID:32861330|PMID:32925285|PMID:33001386|PMID:33038745|PMID:33094885|PMID:33114611|PMID:33237279|PMID:33345470|PMID:3340821|PMID:33411102|PMID:33467513|PMID:33739616|PMID:33844361|PMID:34024775|PMID:34047656|PMID:34059423|PMID:34079032|PMID:34317109|PMID:34331265|PMID:34391735|PMID:34461737|PMID:34495297|PMID:34585077|PMID:34658264|PMID:34668655|PMID:34729535|PMID:34755769|PMID:34939525|PMID:35115086|PMID:35377943|PMID:35428899|PMID:35438637|PMID:35451899|PMID:35592550|PMID:35627273|PMID:35653365|PMID:35717381|PMID:35730447|PMID:35903975|PMID:35933469|PMID:36261369|PMID:36325894|PMID:36531853|PMID:36624082|PMID:37029471|PMID:37091313|PMID:3714052|PMID:3722385|PMID:37466024|PMID:3760189|PMID:37668548|PMID:37768132|PMID:37869146|PMID:37997196|PMID:38850014|PMID:38912115|PMID:38925327|PMID:39033298|PMID:39575713|PMID:39676281|PMID:40392964|PMID:4079954|PMID:40898332|PMID:4939525|PMID:7599630|PMID:7608709|PMID:7643356|PMID:7655883|PMID:7656439|PMID:7850982|PMID:7868124|PMID:7914929|PMID:7923855|PMID:7951260|PMID:8038017|PMID:8081397|PMID:8102146|PMID:8309582|PMID:8352764|PMID:8384721|PMID:8509786|PMID:8536704|PMID:8579098|PMID:8692810|PMID:8721565|PMID:8960746|PMID:8986762|PMID:8990019|PMID:9017939|PMID:9066351|PMID:9090525|PMID:9196903|PMID:9536098|PMID:9547003|PMID:9605286|PMID:9701270|PMID:9748014|PMID:9748569|PMID:9771673|PMID:9818054|PMID:9818883|PMID:9843084
8783759	Ttr	transthyretin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737331	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10211412|PMID:10506096|PMID:10762172|PMID:10842715|PMID:11261421|PMID:11385707|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12351683|PMID:12874413|PMID:12874414|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14724437|PMID:14968122|PMID:15079068|PMID:15123043|PMID:15185492|PMID:15217993|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:18925456|PMID:19118530|PMID:19602727|PMID:19644733|PMID:19781421|PMID:1979335|PMID:1997217|PMID:20301373|PMID:20435197|PMID:20660862|PMID:20981092|PMID:2122246|PMID:21600538|PMID:21992998|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2349941|PMID:23638696|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24070600|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25628512|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26243339|PMID:26428663|PMID:26467025|PMID:26537620|PMID:26959691|PMID:27033334|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28102864|PMID:28475415|PMID:28492532|PMID:28635949|PMID:28739313|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:3032328|PMID:30683924|PMID:30813263|PMID:30938420|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31359320|PMID:31368669|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:32674397|PMID:33001386|PMID:33467513|PMID:34079032|PMID:34317109|PMID:34331265|PMID:34461737|PMID:34658264|PMID:34668655|PMID:34729535|PMID:35115086|PMID:35377943|PMID:35903975|PMID:36531853|PMID:37029471|PMID:3714052|PMID:3722385|PMID:37869146|PMID:38850014|PMID:4079954|PMID:7608709|PMID:7655883|PMID:7656439|PMID:8309582|PMID:8384721|PMID:8986762|PMID:9017939|PMID:9268242|PMID:9818054
8783759	Ttr	transthyretin	gene	DOID:0050860	colorectal adenoma		ISO	RGD:737331	D	RGD:9068941	20220310	RGD		protein:decreased expression:blood serum (human)	PMID:21136704|REF_RGD_ID:151664608
8783759	Ttr	transthyretin	gene	DOID:0050860	colorectal adenoma		ISO	RGD:737331	D	RGD:9068941	20220317	RGD		protein:decreased expression:colorectum (human)	PMID:33739034|REF_RGD_ID:151660505
8783759	Ttr	transthyretin	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:737331	D	RGD:9068941	20220310	RGD		protein:increased expression:saliva (human)	PMID:23784731|REF_RGD_ID:151664609
8783759	Ttr	transthyretin	gene	DOID:0070466	carpal tunnel syndrome 1		ISO	RGD:737331	D	RGD:7240710	20210120	OMIM			
8783759	Ttr	transthyretin	gene	DOID:0070466	carpal tunnel syndrome 1		ISO	RGD:737331	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Carpal tunnel syndrome 1	PMID:10211412|PMID:10506096|PMID:10762172|PMID:10842715|PMID:11261421|PMID:11385707|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12050338|PMID:12217248|PMID:12228058|PMID:12874413|PMID:12874414|PMID:1335038|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14640031|PMID:15079068|PMID:15123043|PMID:15299640|PMID:15645642|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17062380|PMID:17251346|PMID:17503405|PMID:17551924|PMID:17577688|PMID:1786038|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:18925456|PMID:19644733|PMID:19752327|PMID:19781421|PMID:1979335|PMID:1997217|PMID:20301373|PMID:20435197|PMID:20840742|PMID:20981092|PMID:21540676|PMID:21600538|PMID:21679902|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22620967|PMID:22745357|PMID:22877808|PMID:22928869|PMID:22995991|PMID:2349941|PMID:2363717|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24053266|PMID:24070600|PMID:24073013|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24767411|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25636337|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26208957|PMID:26428663|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27273296|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28102864|PMID:28475415|PMID:28492532|PMID:28605421|PMID:28635949|PMID:29407121|PMID:29493581|PMID:29520877|PMID:29764897|PMID:29875424|PMID:30070416|PMID:30093168|PMID:3032328|PMID:30638075|PMID:30683924|PMID:30813263|PMID:30938420|PMID:31006018|PMID:31103217|PMID:31135624|PMID:31359320|PMID:31368669|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31676763|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:32674397|PMID:33001386|PMID:33467513|PMID:34047656|PMID:34079032|PMID:34461737|PMID:34658264|PMID:34729535|PMID:35115086|PMID:35377943|PMID:35592550|PMID:35730447|PMID:35903975|PMID:37029471|PMID:37091313|PMID:3714052|PMID:37466024|PMID:37869146|PMID:38850014|PMID:7868124|PMID:8038017|PMID:8309582|PMID:8384721|PMID:8986762|PMID:9017939
8783759	Ttr	transthyretin	gene	DOID:0080219	dystransthyretinemic hyperthyroxinemia		ISO	RGD:737331	D	RGD:7240710	20180130	OMIM			
8783759	Ttr	transthyretin	gene	DOID:0080219	dystransthyretinemic hyperthyroxinemia		ISO	RGD:737331	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EUTHRYROIDAL HYPERTHYROXINEMIA 2 | ClinVar Annotator: match by term: Hyperthyroxinemia, dystransthyretinemic	PMID:10211412|PMID:10506096|PMID:10762172|PMID:10842715|PMID:11261421|PMID:11385707|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12050338|PMID:12217248|PMID:12228058|PMID:12874413|PMID:12874414|PMID:1335038|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14640031|PMID:15079068|PMID:15123043|PMID:15299640|PMID:15645642|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17062380|PMID:17251346|PMID:17503405|PMID:17551924|PMID:17577688|PMID:1786038|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:18925456|PMID:19644733|PMID:19752327|PMID:19781421|PMID:1979335|PMID:1997217|PMID:20301373|PMID:20435197|PMID:20840742|PMID:20981092|PMID:21540676|PMID:21600538|PMID:21679902|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22620967|PMID:22745357|PMID:22877808|PMID:22928869|PMID:22995991|PMID:2349941|PMID:2363717|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24053266|PMID:24070600|PMID:24073013|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24767411|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25636337|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26208957|PMID:26428663|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27273296|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28102864|PMID:28475415|PMID:28492532|PMID:28605421|PMID:28635949|PMID:29407121|PMID:29493581|PMID:29520877|PMID:29764897|PMID:29875424|PMID:30070416|PMID:30093168|PMID:3032328|PMID:30638075|PMID:30683924|PMID:30813263|PMID:30938420|PMID:31006018|PMID:31103217|PMID:31135624|PMID:31359320|PMID:31368669|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31676763|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:32674397|PMID:33001386|PMID:33467513|PMID:34047656|PMID:34079032|PMID:34461737|PMID:34658264|PMID:34729535|PMID:35115086|PMID:35377943|PMID:35592550|PMID:35730447|PMID:35903975|PMID:37029471|PMID:37091313|PMID:3714052|PMID:37466024|PMID:37869146|PMID:38850014|PMID:7868124|PMID:8038017|PMID:8309582|PMID:8384721|PMID:8986762|PMID:9017939
8783759	Ttr	transthyretin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:737331	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1	PMID:1355416|PMID:14640030|PMID:15185492|PMID:1850190|PMID:19428025|PMID:1997217|PMID:2174830|PMID:22332999|PMID:24033266|PMID:24955979|PMID:25741868|PMID:2590199|PMID:26537620|PMID:28492532|PMID:30683924|PMID:31554435|PMID:6736244|PMID:7923855|PMID:8102146|PMID:9090525
8783759	Ttr	transthyretin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:737331	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:1355416|PMID:14640030|PMID:15185492|PMID:1850190|PMID:19428025|PMID:1997217|PMID:2174830|PMID:22332999|PMID:24955979|PMID:25741868|PMID:2590199|PMID:26537620|PMID:28492532|PMID:30683924|PMID:31554435|PMID:34380564|PMID:37313193|PMID:6736244|PMID:7923855|PMID:8102146|PMID:9090525
8783759	Ttr	transthyretin	gene	DOID:10534	stomach cancer	severity	ISO	RGD:737331	D	RGD:9068941	20220310	RGD		protein:decreased expression:blood serum (human)	PMID:29804846|REF_RGD_ID:151664603
8783759	Ttr	transthyretin	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:737331	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15217993|PMID:15249622|PMID:1544214|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:19808383|PMID:1981182|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20660862|PMID:20840742|PMID:2122246|PMID:21406045|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22620962|PMID:22745357|PMID:22877808|PMID:23080516|PMID:2320592|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:23638696|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25550818|PMID:25551524|PMID:2564060|PMID:25644864|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26017327|PMID:26088020|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26521788|PMID:26537620|PMID:26610878|PMID:26894299|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27249223|PMID:27364045|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27885756|PMID:28166811|PMID:2840822|PMID:28475415|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:2877582|PMID:28798025|PMID:2891727|PMID:2896079|PMID:29016222|PMID:29048471|PMID:29121657|PMID:29351628|PMID:29493581|PMID:2981253|PMID:3011930|PMID:3022107|PMID:3022108|PMID:3022697|PMID:3030336|PMID:30328212|PMID:30350904|PMID:30683924|PMID:30813263|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31728576|PMID:31740141|PMID:31821430|PMID:3229002|PMID:32376792|PMID:32674397|PMID:3457802|PMID:3479441|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855|PMID:8064809|PMID:8071954|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9748014|PMID:9771673|PMID:9818054|PMID:9818883|PMID:9843084
8783759	Ttr	transthyretin	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:737331	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:10439123|PMID:10453736|PMID:10465115|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15217993|PMID:15249622|PMID:1544214|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20660862|PMID:20840742|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22531659|PMID:22592564|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:23080516|PMID:2320592|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:2564060|PMID:25644864|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26537620|PMID:26587769|PMID:26610878|PMID:26894299|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27249223|PMID:27364045|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27885756|PMID:2840822|PMID:28475415|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:2877582|PMID:2891727|PMID:2896079|PMID:29016222|PMID:29048471|PMID:29121657|PMID:29351628|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29764897|PMID:2981253|PMID:29875424|PMID:30019395|PMID:30093168|PMID:3011930|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30328212|PMID:30350904|PMID:30572722|PMID:30683924|PMID:30813263|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31343348|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32852783|PMID:32880476|PMID:32893242|PMID:33373035|PMID:33726816|PMID:33739616|PMID:3457802|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991
8783759	Ttr	transthyretin	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:737331	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855|PMID:8064809|PMID:8071954|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9771673|PMID:9818054|PMID:9818883|PMID:9843084
8783759	Ttr	transthyretin	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:737331	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia	PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15217993|PMID:15249622|PMID:1544214|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20660862|PMID:20840742|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22531659|PMID:22592564|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:23080516|PMID:2320592|PMID:23240369|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:2564060|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26537620|PMID:26587769|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27249223|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27885756|PMID:2840822|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:2877582|PMID:28798025|PMID:2891727|PMID:2896079|PMID:29121657|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29764897|PMID:2981253|PMID:29875424|PMID:30019395|PMID:30093168|PMID:3011930|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30328212|PMID:30350904|PMID:30572722|PMID:30683924|PMID:30813263|PMID:30847666|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31343348|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32852783|PMID:32880476|PMID:32893242|PMID:33373035|PMID:33726816|PMID:33739616|PMID:3457802|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668
8783759	Ttr	transthyretin	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:737331	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15217993|PMID:15249622|PMID:1544214|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16439680|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20660862|PMID:20840742|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22531659|PMID:22592564|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:23080516|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23885891|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25211232|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:2564060|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26537620|PMID:26587769|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27249223|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27858761|PMID:27885756|PMID:28102864|PMID:2840822|PMID:28475415|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28728692|PMID:2877582|PMID:28798025|PMID:2891727|PMID:2896079|PMID:29048471|PMID:29121657|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29764897|PMID:2981253|PMID:29875424|PMID:30019395|PMID:30093168|PMID:3011930|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30328212|PMID:30350904|PMID:30572722|PMID:30638075|PMID:30683924|PMID:30813263|PMID:30847666|PMID:30938420|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31343348|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31864976|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32461654|PMID:32528171|PMID:32674397|PMID:32696671|PMID:32852783|PMID:32880476|PMID:32893242|PMID:33373035|PMID:33467513|PMID:33726816|PMID:33739616|PMID:34079032|PMID:3457802|PMID:34729535
8783759	Ttr	transthyretin	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:737331	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:3479441|PMID:35115086|PMID:35377943|PMID:35730447|PMID:35903975|PMID:36003663|PMID:3627183|PMID:36289657|PMID:3676699|PMID:36994840|PMID:3722385|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855|PMID:8064809|PMID:8071954|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9748014|PMID:9748569|PMID:9771673|PMID:9818054|PMID:9818883|PMID:9843084
8783759	Ttr	transthyretin	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:737331	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15217993|PMID:15249622|PMID:1544214|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20660862|PMID:20840742|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22244854|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22531659|PMID:22592564|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:23080516|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23797140|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24767411|PMID:24779883|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25044787|PMID:25311081|PMID:25395306|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:2564060|PMID:25741868|PMID:25743335|PMID:25743445|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26537620|PMID:26587769|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27249223|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27885756|PMID:28102864|PMID:2840822|PMID:28475415|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28605421|PMID:28635949|PMID:28728692|PMID:28739313|PMID:2877582|PMID:28798025|PMID:2891727|PMID:2896079|PMID:29048471|PMID:29052438|PMID:29121657|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29680336|PMID:29764897|PMID:2981253|PMID:29875424|PMID:30019395|PMID:30093168|PMID:3011930|PMID:30193540|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30328212|PMID:30350904|PMID:30414627|PMID:30572722|PMID:30683924|PMID:30813263|PMID:30847666|PMID:30938420|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31343348|PMID:31359320|PMID:31371117|PMID:31553132|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31864976|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32217467|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32425064|PMID:32512488|PMID:32528171|PMID:32653448|PMID:32674397|PMID:32852783|PMID:32880476
8783759	Ttr	transthyretin	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:737331	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10211412|PMID:10488818|PMID:10506096|PMID:10762172|PMID:10842715|PMID:11261421|PMID:11385707|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14724437|PMID:14968122|PMID:15079068|PMID:15123043|PMID:15185492|PMID:15217993|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:18925456|PMID:19118530|PMID:19602727|PMID:19644733|PMID:19781421|PMID:1979335|PMID:1997217|PMID:20301373|PMID:20435197|PMID:2046936|PMID:20660862|PMID:20840742|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21600538|PMID:21992998|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2349941|PMID:23638696|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24070600|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24368466|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26243339|PMID:26428663|PMID:26467025|PMID:26537620|PMID:26959691|PMID:27033334|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28102864|PMID:28475415|PMID:28492532|PMID:28635949|PMID:28739313|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:3032328|PMID:30683924|PMID:30813263|PMID:30938420|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31359320|PMID:31368669|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:32376792|PMID:32674397|PMID:33001386|PMID:33467513|PMID:34079032|PMID:34317109|PMID:34331265|PMID:34461737|PMID:34658264|PMID:34668655|PMID:34729535|PMID:35115086|PMID:35377943|PMID:35903975|PMID:36531853|PMID:37029471|PMID:3714052|PMID:3722385|PMID:37869146|PMID:38850014|PMID:4079954|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7868124|PMID:8309582|PMID:8384721|PMID:8721565|PMID:8986762|PMID:9017939|PMID:9818054
8783759	Ttr	transthyretin	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737331	D	RGD:9068941	20200609	RGD			PMID:16552785|REF_RGD_ID:1580525
8783759	Ttr	transthyretin	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:737331	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:14640030|PMID:20840742|PMID:25741868|PMID:28492532|PMID:7868124
8783759	Ttr	transthyretin	gene	DOID:12169	carpal tunnel syndrome		ISO	RGD:737331	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARPAL TUNNEL SYNDROME, FAMILIAL | ClinVar Annotator: match by term: Carpal tunnel syndrome | ClinVar Annotator: match by term: Carpal tunnel syndrome, familial	PMID:10211412|PMID:10506096|PMID:10762172|PMID:10842715|PMID:11261421|PMID:11385707|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12050338|PMID:12217248|PMID:12228058|PMID:12874413|PMID:12874414|PMID:1335038|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14640031|PMID:15079068|PMID:15123043|PMID:15299640|PMID:15645642|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17062380|PMID:17251346|PMID:17503405|PMID:17551924|PMID:17577688|PMID:1786038|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:18925456|PMID:19644733|PMID:19752327|PMID:19781421|PMID:1979335|PMID:1997217|PMID:20301373|PMID:20435197|PMID:20840742|PMID:20981092|PMID:21540676|PMID:21600538|PMID:21679902|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22620967|PMID:22745357|PMID:22877808|PMID:22928869|PMID:22995991|PMID:2349941|PMID:2363717|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24053266|PMID:24070600|PMID:24073013|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24767411|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25636337|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26208957|PMID:26428663|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27273296|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28102864|PMID:28475415|PMID:28492532|PMID:28605421|PMID:28635949|PMID:29407121|PMID:29493581|PMID:29520877|PMID:29764897|PMID:29875424|PMID:29883834|PMID:30070416|PMID:30093168|PMID:3032328|PMID:30638075|PMID:30683924|PMID:30813263|PMID:30938420|PMID:31006018|PMID:31103217|PMID:31135624|PMID:31359320|PMID:31368669|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31676763|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:32674397|PMID:33001386|PMID:33094885|PMID:33467513|PMID:34047656|PMID:34079032|PMID:34461737|PMID:34658264|PMID:34729535|PMID:35115086|PMID:35377943|PMID:35592550|PMID:35730447|PMID:35903975|PMID:37029471|PMID:37091313|PMID:3714052|PMID:37466024|PMID:37869146|PMID:38850014|PMID:7868124|PMID:8038017|PMID:8309582|PMID:8384721|PMID:8986762|PMID:9017939
8783759	Ttr	transthyretin	gene	DOID:12450	pancytopenia		ISO	RGD:737331	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:10211412|PMID:10506096|PMID:10762172|PMID:10842715|PMID:11261421|PMID:11385707|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:14569203|PMID:14627687|PMID:14640030|PMID:15079068|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:18925456|PMID:19644733|PMID:19781421|PMID:1979335|PMID:1997217|PMID:20301373|PMID:20435197|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24070600|PMID:24073013|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28102864|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3032328|PMID:30683924|PMID:30813263|PMID:30938420|PMID:31135624|PMID:31359320|PMID:31368669|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:32674397|PMID:33001386|PMID:33467513|PMID:34079032|PMID:34461737|PMID:34729535|PMID:35115086|PMID:35377943|PMID:35903975|PMID:37029471|PMID:3714052|PMID:37869146|PMID:38850014|PMID:8309582|PMID:8384721|PMID:8986762|PMID:9017939
8783759	Ttr	transthyretin	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:737331	D	RGD:9068941	20220310	RGD		protein:decreased expression:blood serum (human)	PMID:20964562|REF_RGD_ID:151664750
8783759	Ttr	transthyretin	gene	DOID:1324	lung cancer	sexual_dimorphism	ISO	RGD:737331	D	RGD:9068941	20220310	RGD		protein:decreased expression:blood serum (human)	PMID:17683510|REF_RGD_ID:151664742
8783759	Ttr	transthyretin	gene	DOID:2316	brain ischemia		ISO	RGD:3916	D	RGD:9068941	20200609	RGD			PMID:15469881|REF_RGD_ID:1580523
8783759	Ttr	transthyretin	gene	DOID:2355	anemia		ISO	RGD:737331	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:10211412|PMID:10506096|PMID:10762172|PMID:10842715|PMID:11261421|PMID:11385707|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:14569203|PMID:14627687|PMID:14640030|PMID:15079068|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:18925456|PMID:19644733|PMID:19781421|PMID:1979335|PMID:1997217|PMID:20301373|PMID:20435197|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24070600|PMID:24073013|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28102864|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3032328|PMID:30683924|PMID:30813263|PMID:30938420|PMID:31135624|PMID:31359320|PMID:31368669|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:32674397|PMID:33001386|PMID:33467513|PMID:34079032|PMID:34461737|PMID:34729535|PMID:35115086|PMID:35377943|PMID:35903975|PMID:37029471|PMID:3714052|PMID:37869146|PMID:38850014|PMID:8309582|PMID:8384721|PMID:8986762|PMID:9017939
8783759	Ttr	transthyretin	gene	DOID:2843	long QT syndrome		ISO	RGD:737331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prolonged QT interval	PMID:10211412|PMID:10506096|PMID:10762172|PMID:10842715|PMID:11261421|PMID:11385707|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14627687|PMID:14640030|PMID:15079068|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:18925456|PMID:19644733|PMID:19781421|PMID:1979335|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:23193944|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:23797140|PMID:24033266|PMID:24070600|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28102864|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29052438|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:3032328|PMID:30813263|PMID:30938420|PMID:31135624|PMID:31359320|PMID:31368669|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:33001386|PMID:33467513|PMID:34079032|PMID:34461737|PMID:34729535|PMID:35115086|PMID:35377943|PMID:35903975|PMID:3627183|PMID:37029471|PMID:3714052|PMID:37869146|PMID:38850014|PMID:3934968|PMID:7868124|PMID:8309582|PMID:8384721|PMID:8698351|PMID:8986762|PMID:9017939
8783759	Ttr	transthyretin	gene	DOID:2843	long QT syndrome		ISO	RGD:737331	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:10506096|PMID:10762172|PMID:10842715|PMID:11261421|PMID:11385707|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:14569203|PMID:14627687|PMID:14640030|PMID:15079068|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:18925456|PMID:19644733|PMID:19781421|PMID:1979335|PMID:1997217|PMID:20301373|PMID:20435197|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24070600|PMID:24073013|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28102864|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3032328|PMID:30813263|PMID:30938420|PMID:31135624|PMID:31359320|PMID:31368669|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:32674397|PMID:33001386|PMID:33467513|PMID:34079032|PMID:34461737|PMID:34729535|PMID:35115086|PMID:35377943|PMID:35903975|PMID:37029471|PMID:3714052|PMID:37869146|PMID:38850014|PMID:8309582|PMID:8384721|PMID:8986762|PMID:9017939
8783759	Ttr	transthyretin	gene	DOID:2843	long QT syndrome		ISO	RGD:737331	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Prolonged QT interval	PMID:10211412|PMID:10506096|PMID:10762172|PMID:10842715|PMID:11261421|PMID:11385707|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:14569203|PMID:14627687|PMID:14640030|PMID:15079068|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:18925456|PMID:19644733|PMID:19781421|PMID:1979335|PMID:1997217|PMID:20301373|PMID:20435197|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24070600|PMID:24073013|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28102864|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3032328|PMID:30683924|PMID:30813263|PMID:30938420|PMID:31135624|PMID:31359320|PMID:31368669|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:32674397|PMID:33001386|PMID:33467513|PMID:34079032|PMID:34461737|PMID:34729535|PMID:35115086|PMID:35377943|PMID:35903975|PMID:37029471|PMID:3714052|PMID:37869146|PMID:38850014|PMID:8309582|PMID:8384721|PMID:8986762|PMID:9017939
8783759	Ttr	transthyretin	gene	DOID:3021	acute kidney failure		ISO	RGD:737331	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
8783759	Ttr	transthyretin	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:737331	D	RGD:9068941	20220310	RGD		protein:decreased expression:blood serum (human)	PMID:31031974|REF_RGD_ID:151664739
8783759	Ttr	transthyretin	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:737331	D	RGD:9068941	20220317	RGD		mRNA,protein:increased expression:lung (human)	PMID:26943652|REF_RGD_ID:151665207
8783759	Ttr	transthyretin	gene	DOID:4556	lung large cell carcinoma		ISO	RGD:737331	D	RGD:9068941	20220317	RGD		protein:increased expression:lung (human)	PMID:26943652|REF_RGD_ID:151665207
8783759	Ttr	transthyretin	gene	DOID:4829	adenosquamous lung carcinoma		ISO	RGD:737331	D	RGD:9068941	20220317	RGD		protein:increased expression:lung (human)	PMID:26943652|REF_RGD_ID:151665207
8783759	Ttr	transthyretin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737331	D	RGD:9068941	20220310	RGD		protein:decreased expression:blood serum (human)	PMID:18275060|REF_RGD_ID:151660506
8783759	Ttr	transthyretin	gene	DOID:4961	bone marrow disease		ISO	RGD:737331	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	PMID:10211412|PMID:10506096|PMID:10762172|PMID:10842715|PMID:11261421|PMID:11385707|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:14569203|PMID:14627687|PMID:14640030|PMID:15079068|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:18925456|PMID:19644733|PMID:19781421|PMID:1979335|PMID:1997217|PMID:20301373|PMID:20435197|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24070600|PMID:24073013|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28102864|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3032328|PMID:30683924|PMID:30813263|PMID:30938420|PMID:31135624|PMID:31359320|PMID:31368669|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:32674397|PMID:33001386|PMID:33467513|PMID:34079032|PMID:34461737|PMID:34729535|PMID:35115086|PMID:35377943|PMID:35903975|PMID:37029471|PMID:3714052|PMID:37869146|PMID:38850014|PMID:8309582|PMID:8384721|PMID:8986762|PMID:9017939
8783759	Ttr	transthyretin	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:737331	D	RGD:9068941	20220317	RGD		protein:increased expression:lung (human)	PMID:26943652|REF_RGD_ID:151665207
8783759	Ttr	transthyretin	gene	DOID:552	pneumonia		ISO	RGD:737331	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:10211412|PMID:10506096|PMID:10762172|PMID:10842715|PMID:11261421|PMID:11385707|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:14569203|PMID:14627687|PMID:14640030|PMID:15079068|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:18925456|PMID:19644733|PMID:19781421|PMID:1979335|PMID:1997217|PMID:20301373|PMID:20435197|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24070600|PMID:24073013|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28102864|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3032328|PMID:30683924|PMID:30813263|PMID:30938420|PMID:31135624|PMID:31359320|PMID:31368669|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:32674397|PMID:33001386|PMID:33467513|PMID:34079032|PMID:34461737|PMID:34729535|PMID:35115086|PMID:35377943|PMID:35903975|PMID:37029471|PMID:3714052|PMID:37869146|PMID:38850014|PMID:8309582|PMID:8384721|PMID:8986762|PMID:9017939
8783759	Ttr	transthyretin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8783759	Ttr	transthyretin	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:737331	D	RGD:9068941	20220210	RGD		protein:decreased expression:blood serum (human)	PMID:29534342|REF_RGD_ID:151356736
8783759	Ttr	transthyretin	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:737331	D	RGD:9068941	20220317	RGD		associated with colorectal cancer;protein:decreased expresion:blood serum (human)	PMID:21074777|REF_RGD_ID:151665155
8783759	Ttr	transthyretin	gene	DOID:9000299	cardiac amyloidosis		ISO	RGD:737331	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY	PMID:10611949|PMID:12351683|PMID:1335038|PMID:14640030|PMID:15299640|PMID:17143887|PMID:17576681|PMID:17968690|PMID:19180884|PMID:20840742|PMID:21406045|PMID:21692911|PMID:22187309|PMID:22320251|PMID:22745357|PMID:22928869|PMID:23346293|PMID:2363717|PMID:23713495|PMID:24033266|PMID:24053266|PMID:25628512|PMID:25644864|PMID:25741868|PMID:26467025|PMID:26537620|PMID:26656838|PMID:27273296|PMID:27501389|PMID:28492532|PMID:28605421|PMID:28802308|PMID:29875424|PMID:29883834|PMID:30683924|PMID:30938420|PMID:31103217|PMID:31371117|PMID:31554435|PMID:31676763|PMID:32376792|PMID:32674397|PMID:33094885|PMID:33739616|PMID:33844361|PMID:34658264|PMID:35438637|PMID:35933469|PMID:37091313|PMID:37466024|PMID:39575713|PMID:7850982|PMID:7868124|PMID:9536098|PMID:9605286
8783759	Ttr	transthyretin	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:737331	D	RGD:9068941	20220317	RGD		associated with  oral squamous cell carcinoma;protein:decreased expression:blood serum, saliva (human)	PMID:20957082|REF_RGD_ID:151665158
8783759	Ttr	transthyretin	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:737331	D	RGD:9068941	20220317	RGD		associated with colorectal adenocarcinoma;protein:decreased expression:colorectum (human)	PMID:33739034|REF_RGD_ID:151660505
8783759	Ttr	transthyretin	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:737331	D	RGD:9068941	20220317	RGD		associated with colorectal cancer	PMID:28730771|REF_RGD_ID:151665163
8783759	Ttr	transthyretin	gene	DOID:9001510	Funnel Chest		ISO	RGD:737331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:37091313
8783759	Ttr	transthyretin	gene	DOID:9001512	Familial Amyloid Polyneuropathies		ISO	RGD:737331	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial amyloid polyneuropathy | ClinVar Annotator: match by term: Familial amyloid polyneuropathy type III	PMID:10036587|PMID:10071047|PMID:10211412|PMID:10436378|PMID:10439117|PMID:10439123|PMID:10449136|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10611949|PMID:10611950|PMID:10627135|PMID:10671063|PMID:10677864|PMID:10694917|PMID:10762172|PMID:10772944|PMID:10794728|PMID:10842705|PMID:10842715|PMID:10842718|PMID:10842720|PMID:10845569|PMID:10923048|PMID:10924339|PMID:11132096|PMID:11243784|PMID:11261421|PMID:11385707|PMID:11418763|PMID:11445644|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12000196|PMID:12039669|PMID:12050338|PMID:12101461|PMID:12217248|PMID:12351683|PMID:12433265|PMID:12440483|PMID:12440486|PMID:12557756|PMID:12557757|PMID:12557758|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12757474|PMID:12762139|PMID:12771253|PMID:12779320|PMID:12874413|PMID:12874414|PMID:12874858|PMID:1301926|PMID:1330202|PMID:1335038|PMID:13367520|PMID:1350083|PMID:1351039|PMID:1353008|PMID:1353861|PMID:1355416|PMID:1356051|PMID:1358785|PMID:13593935|PMID:1362222|PMID:13894830|PMID:1436517|PMID:14404854|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14640031|PMID:14673473|PMID:14695346|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15110620|PMID:15123043|PMID:15185492|PMID:15185501|PMID:1520326|PMID:1520336|PMID:15205369|PMID:15214015|PMID:15217993|PMID:15249622|PMID:15299640|PMID:15377697|PMID:1544214|PMID:15478468|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15793844|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16053476|PMID:16076613|PMID:1618497|PMID:16194874|PMID:16194875|PMID:16199547|PMID:16217058|PMID:1626556|PMID:1626570|PMID:16357452|PMID:16362527|PMID:16387053|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16439680|PMID:1644201|PMID:16448460|PMID:16530227|PMID:1656975|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:16971399|PMID:17028027|PMID:17062380|PMID:17143887|PMID:1729888|PMID:1729893|PMID:17338921|PMID:1734866|PMID:17431395|PMID:17431450|PMID:17443043|PMID:17453626|PMID:17484624|PMID:17503405|PMID:17522146|PMID:17551924|PMID:17554795|PMID:17558848|PMID:17576681|PMID:17577687|PMID:17577688|PMID:17698792|PMID:1786038|PMID:17968687|PMID:17968690|PMID:18022643|PMID:18042262|PMID:18069997|PMID:18074076|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:1850191|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19291509|PMID:1932142|PMID:19364362|PMID:19372189|PMID:19428025|PMID:19467548|PMID:19491989|PMID:19602727|PMID:19618439|PMID:19644733|PMID:19709674|PMID:19752327|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:19950966|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:20536403|PMID:20558946|PMID:2063870|PMID:20660862|PMID:20686303|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:21135536|PMID:2122246|PMID:21406045|PMID:21490715|PMID:21520333|PMID:21540676|PMID:21550574|PMID:21557933|PMID:21600538|PMID:2161654|PMID:21692911|PMID:2174830|PMID:21838472|PMID:21843040|PMID:21992998|PMID:22083004|PMID:22106346|PMID:22149423|PMID:22184092|PMID:22187309|PMID:22209138|PMID:22244854|PMID:22320251|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22400056|PMID:22412233|PMID:22449240|PMID:22494066|PMID:22531659|PMID:22551192|PMID:22580845|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22620968|PMID:22745357|PMID:22747647|PMID:22877808|PMID:22928869|PMID:22973891|PMID:22995991|PMID:23080516|PMID:23126592|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23278526|PMID:23279339|PMID:23317988|PMID:23346293|PMID:23387326|PMID:23438977|PMID:2349941|PMID:23523753|PMID:23580146|PMID:2360796|PMID:2363717|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23797140|PMID:23833285|PMID:23885891|PMID:23905621|PMID:23993291|PMID:24030042|PMID:24033266
8783759	Ttr	transthyretin	gene	DOID:9001512	Familial Amyloid Polyneuropathies		ISO	RGD:737331	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial amyloid polyneuropathy | ClinVar Annotator: match by term: Familial amyloid polyneuropathy type III	PMID:24046394|PMID:24053266|PMID:24061768|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24358189|PMID:24368466|PMID:24412190|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24613567|PMID:24633258|PMID:24650283|PMID:24664531|PMID:24747948|PMID:24767411|PMID:24779883|PMID:24800914|PMID:24818650|PMID:24953234|PMID:24955979|PMID:25037766|PMID:25044787|PMID:2510740|PMID:25130926|PMID:25211232|PMID:25291558|PMID:25311081|PMID:25382970|PMID:25395306|PMID:25408161|PMID:25412400|PMID:25430583|PMID:25471118|PMID:25488473|PMID:25519307|PMID:25525159|PMID:25526974|PMID:25550818|PMID:25551524|PMID:25628512|PMID:25636337|PMID:2564060|PMID:25644864|PMID:25721874|PMID:25741868|PMID:25743335|PMID:25743445|PMID:25819286|PMID:25828388|PMID:25846356|PMID:25857202|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26017328|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:26123280|PMID:2613237|PMID:26156087|PMID:26208957|PMID:26209459|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26342004|PMID:26361241|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26550692|PMID:26587769|PMID:26600212|PMID:26656838|PMID:26828956|PMID:26894299|PMID:26959691|PMID:26984605|PMID:26986100|PMID:27025994|PMID:27033334|PMID:27066555|PMID:27143678|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27238058|PMID:27249223|PMID:27273296|PMID:27350016|PMID:27364045|PMID:27386769|PMID:27466465|PMID:27501389|PMID:27519456|PMID:27532257|PMID:27562180|PMID:27584576|PMID:27589730|PMID:27618855|PMID:27646980|PMID:27652282|PMID:27720586|PMID:27724962|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27858761|PMID:27859927|PMID:27885756|PMID:28102864|PMID:28188196|PMID:28272196|PMID:28335735|PMID:28338000|PMID:28393577|PMID:2840822|PMID:28434346|PMID:28460244|PMID:28475415|PMID:28484271|PMID:28492532|PMID:28494620|PMID:28508289|PMID:2856994|PMID:2857043|PMID:28605421|PMID:28635949|PMID:28646538|PMID:28716239|PMID:28728692|PMID:28739313|PMID:28762097|PMID:2877582|PMID:28790153|PMID:28798025|PMID:28802308|PMID:28878402|PMID:28882124|PMID:28911993|PMID:2891727|PMID:2896079|PMID:28991715|PMID:29048471|PMID:29052438|PMID:29121657|PMID:29246775|PMID:29277593|PMID:29322995|PMID:29407121|PMID:29423915|PMID:29455155|PMID:29493581|PMID:29520877|PMID:29524093|PMID:29540472|PMID:29607936|PMID:29680336|PMID:29764897|PMID:29801893|PMID:2981253|PMID:29875424|PMID:29883834|PMID:29941560|PMID:29970125|PMID:29984770|PMID:30019395|PMID:30039724|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30169969|PMID:30193540|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30226982|PMID:30243104|PMID:3030336|PMID:30311386|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30553273|PMID:30572722|PMID:30595768|PMID:30604309|PMID:30638075|PMID:30683924|PMID:30685801|PMID:30811423|PMID:30813263|PMID:30847666|PMID:30938420|PMID:3097057|PMID:30981840|PMID:31006018|PMID:31018485|PMID:31074293|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31178489|PMID:31257920|PMID:31343285|PMID:31343308|PMID:31343330|PMID:31343348|PMID:31343365|PMID:31348283|PMID:31353960|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31517333|PMID:31553132|PMID:31554435|PMID:31583185|PMID:31587306|PMID:31589614|PMID:31648569|PMID:31659433|PMID:31676763|PMID:31713445|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31826067|PMID:31864976|PMID:31919945|PMID:31932463|PMID:31980526|PMID:32000831|PMID:32150461|PMID:32217467|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32393063|PMID:32395865|PMID:32399692|PMID:32425064|PMID:32461654|PMID:32512488|PMID:32528171|PMID:32653448|PMID:32674397|PMID:32696671|PMID:32740500|PMID:32746448|PMID:32749600|PMID:32789836|PMID:32852783|PMID:32861330|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33038745|PMID:33094885|PMID:33114611
8783759	Ttr	transthyretin	gene	DOID:9001512	Familial Amyloid Polyneuropathies		ISO	RGD:737331	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial amyloid polyneuropathy | ClinVar Annotator: match by term: Familial amyloid polyneuropathy type III	PMID:33237279|PMID:33283548|PMID:33309574|PMID:33345470|PMID:33373035|PMID:3340821|PMID:33411102|PMID:33411323|PMID:33467513|PMID:33645214|PMID:33726816|PMID:33739616|PMID:33844361|PMID:34024775|PMID:34047656|PMID:34059423|PMID:34079032|PMID:34317109|PMID:34331265|PMID:34380564|PMID:34391735|PMID:34440326|PMID:34495297|PMID:34527900|PMID:3457802|PMID:34584389|PMID:34585077|PMID:34658264|PMID:34668655|PMID:34729535|PMID:34740514|PMID:34746851|PMID:3479441|PMID:35115086|PMID:35125479|PMID:35377943|PMID:35386059|PMID:35398489|PMID:35414855|PMID:35417510|PMID:35451899|PMID:35592550|PMID:35627273|PMID:35637921|PMID:35653365|PMID:35665045|PMID:35717381|PMID:35730447|PMID:35841533|PMID:35903975|PMID:35933469|PMID:36003663|PMID:36199823|PMID:36261369|PMID:3627183|PMID:36289657|PMID:36325894|PMID:36380794|PMID:36531853|PMID:36562013|PMID:36597836|PMID:36648052|PMID:3676699|PMID:36994840|PMID:37091313|PMID:3722385|PMID:37313193|PMID:37456934|PMID:3760189|PMID:3762958|PMID:37805173|PMID:37827496|PMID:37869146|PMID:37997196|PMID:38204330|PMID:38523305|PMID:38757395|PMID:3908483|PMID:3934968|PMID:39458146|PMID:4079954|PMID:4138132|PMID:4354899|PMID:4884226|PMID:4952599|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6099706|PMID:6100724|PMID:6168726|PMID:6208668|PMID:6300852|PMID:6310716|PMID:6311926|PMID:6487335|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7018469|PMID:7389759|PMID:7417777|PMID:7599630|PMID:7608709|PMID:7643356|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7850982|PMID:7868124|PMID:7906282|PMID:7910950|PMID:7914929|PMID:7923855|PMID:7951260|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095301|PMID:8095302|PMID:8100581|PMID:8102146|PMID:8133316|PMID:8194279|PMID:8218290|PMID:8257997|PMID:8275943|PMID:8345041|PMID:8352764|PMID:8406434|PMID:8428916|PMID:8509786|PMID:8536704|PMID:8563114|PMID:8579098|PMID:8692810|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:8960746|PMID:8990019|PMID:9017939|PMID:9017946|PMID:9066351|PMID:9090525|PMID:9196903|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9536098|PMID:9547003|PMID:9605286|PMID:9627498|PMID:9701270|PMID:9748014|PMID:9748569|PMID:9771673|PMID:9798666|PMID:9818054|PMID:9818883|PMID:9843084
8783759	Ttr	transthyretin	gene	DOID:9001512	Familial Amyloid Polyneuropathies		ISO	RGD:737331	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Familial amyloid polyneuropathy | ClinVar Annotator: match by term: Familial amyloid polyneuropathy type III	PMID:10036587|PMID:10071047|PMID:10211412|PMID:10436378|PMID:10439117|PMID:10439123|PMID:10449136|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10611949|PMID:10611950|PMID:10627135|PMID:10671063|PMID:10677864|PMID:10694917|PMID:10762172|PMID:10772944|PMID:10794728|PMID:10842705|PMID:10842715|PMID:10842718|PMID:10842720|PMID:10845569|PMID:10923048|PMID:10924339|PMID:11132096|PMID:11243784|PMID:11261421|PMID:11385707|PMID:11418763|PMID:11445644|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12000196|PMID:12039669|PMID:12050338|PMID:12101461|PMID:12217248|PMID:12351683|PMID:12433265|PMID:12440483|PMID:12440486|PMID:12557756|PMID:12557757|PMID:12557758|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12757474|PMID:12762139|PMID:12771253|PMID:12779320|PMID:12874413|PMID:12874414|PMID:12874858|PMID:12876326|PMID:1301926|PMID:1330202|PMID:1335038|PMID:13367520|PMID:1350083|PMID:1351039|PMID:1353008|PMID:1353861|PMID:1355416|PMID:1356051|PMID:1358785|PMID:13593935|PMID:1362222|PMID:13894830|PMID:1436517|PMID:14404854|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14640031|PMID:14673473|PMID:14695346|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15110620|PMID:15123043|PMID:15185492|PMID:15185498|PMID:15185501|PMID:1520326|PMID:1520336|PMID:15205369|PMID:15214015|PMID:15217993|PMID:15249622|PMID:15299640|PMID:15377697|PMID:1544214|PMID:15478468|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15793844|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16053476|PMID:16076613|PMID:1618497|PMID:16194874|PMID:16194875|PMID:16199547|PMID:16217058|PMID:1626556|PMID:1626570|PMID:16357452|PMID:16362527|PMID:16387053|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16439680|PMID:1644201|PMID:16448460|PMID:16530227|PMID:1656975|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:16971399|PMID:17028027|PMID:17062380|PMID:17143887|PMID:1729888|PMID:1729893|PMID:17338921|PMID:1734866|PMID:17431395|PMID:17431450|PMID:17443043|PMID:17453626|PMID:17484624|PMID:17503405|PMID:17522146|PMID:17551924|PMID:17554795|PMID:17558848|PMID:17576681|PMID:17577687|PMID:17577688|PMID:17698792|PMID:1786038|PMID:17968687|PMID:17968690|PMID:18022643|PMID:18042262|PMID:18069997|PMID:18074076|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:1850191|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:19180884|PMID:192115|PMID:19291509|PMID:1932142|PMID:19364362|PMID:19372189|PMID:19428025|PMID:19467548|PMID:19491989|PMID:19602727|PMID:19618439|PMID:19644733|PMID:19709674|PMID:19752327|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:19950966|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:20536403|PMID:20558946|PMID:2063870|PMID:20660862|PMID:20686303|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:21135536|PMID:2122246|PMID:21406045|PMID:21490715|PMID:21520333|PMID:21540676|PMID:21550574|PMID:21557933|PMID:21600538|PMID:2161654|PMID:21692911|PMID:2174830|PMID:21838472|PMID:21843040|PMID:21992998|PMID:22083004|PMID:22106346|PMID:22149423|PMID:22184092|PMID:22187309|PMID:22209138|PMID:22244854|PMID:22320251|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22400056|PMID:22412233|PMID:22449240|PMID:22494066|PMID:22531659|PMID:22551192|PMID:22580845|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22620968|PMID:22745357|PMID:22747647|PMID:22877808|PMID:22928869|PMID:22973891|PMID:22995991|PMID:23080516|PMID:23126592|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23278526|PMID:23279339|PMID:23317988|PMID:23346293|PMID:23387326|PMID:23438977|PMID:2349941|PMID:23523753|PMID:23580146|PMID:2360796|PMID:2363717|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23797140|PMID:23833285|PMID:23885891|PMID:23905621
8783759	Ttr	transthyretin	gene	DOID:9001512	Familial Amyloid Polyneuropathies		ISO	RGD:737331	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Familial amyloid polyneuropathy | ClinVar Annotator: match by term: Familial amyloid polyneuropathy type III	PMID:23993291|PMID:24030042|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24061768|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24358189|PMID:24368466|PMID:24412190|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24613567|PMID:24633258|PMID:24650283|PMID:24664531|PMID:24747948|PMID:24767411|PMID:24779883|PMID:24800914|PMID:24818650|PMID:24953234|PMID:24955979|PMID:25037766|PMID:25044787|PMID:2510740|PMID:25130926|PMID:25211232|PMID:25291558|PMID:25311081|PMID:25382970|PMID:25395306|PMID:25408161|PMID:25412400|PMID:25430583|PMID:25471118|PMID:25488473|PMID:25519307|PMID:25525159|PMID:25526974|PMID:25550818|PMID:25551524|PMID:25628512|PMID:25636337|PMID:2564060|PMID:25644864|PMID:25721874|PMID:25741868|PMID:25741955|PMID:25743335|PMID:25743445|PMID:25819286|PMID:25828388|PMID:25846356|PMID:25857202|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26017328|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:26123280|PMID:2613237|PMID:26156087|PMID:26208957|PMID:26209459|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26342004|PMID:26361241|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26550692|PMID:26587769|PMID:26600212|PMID:26656838|PMID:26828956|PMID:26894299|PMID:26959691|PMID:26984605|PMID:26986100|PMID:27025994|PMID:27033334|PMID:27066555|PMID:27143678|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27238058|PMID:27249223|PMID:27273296|PMID:27350016|PMID:27364045|PMID:27386769|PMID:27466465|PMID:27501389|PMID:27519456|PMID:27532257|PMID:27562180|PMID:27584576|PMID:27589730|PMID:27618855|PMID:27646980|PMID:27652282|PMID:27720586|PMID:27724962|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27858761|PMID:27859927|PMID:27885756|PMID:28102864|PMID:28188196|PMID:28272196|PMID:28335735|PMID:28338000|PMID:28393577|PMID:2840822|PMID:28434346|PMID:28460244|PMID:28475415|PMID:28484271|PMID:28492532|PMID:28494620|PMID:28508289|PMID:2856994|PMID:2857043|PMID:28605421|PMID:28635949|PMID:28646538|PMID:28716239|PMID:28728692|PMID:28739313|PMID:28762097|PMID:2877582|PMID:28790153|PMID:28798025|PMID:28802308|PMID:28878402|PMID:28882124|PMID:28911993|PMID:2891727|PMID:2896079|PMID:28991715|PMID:29048471|PMID:29052438|PMID:29121657|PMID:29246775|PMID:29277593|PMID:29322995|PMID:29407121|PMID:29423915|PMID:29455155|PMID:29493581|PMID:29520877|PMID:29524093|PMID:29540472|PMID:29607936|PMID:29680336|PMID:29764897|PMID:29801893|PMID:2981253|PMID:29875424|PMID:29883834|PMID:29941560|PMID:29970125|PMID:29984770|PMID:30019395|PMID:30039724|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30169969|PMID:30193540|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30226982|PMID:30243104|PMID:3030336|PMID:30311386|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30553273|PMID:30572722|PMID:30595768|PMID:30604309|PMID:30638075|PMID:30683924|PMID:30685801|PMID:30811423|PMID:30813263|PMID:30847666|PMID:30938420|PMID:3097057|PMID:30981840|PMID:31006018|PMID:31018485|PMID:31074293|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31178489|PMID:31257920|PMID:31343285|PMID:31343308|PMID:31343330|PMID:31343348|PMID:31343365|PMID:31348283|PMID:31353960|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31517333|PMID:31553132|PMID:31554435|PMID:31583185|PMID:31587306|PMID:31589614|PMID:31648569|PMID:31659433|PMID:31676763|PMID:31713445|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31826067|PMID:31864976|PMID:31919945|PMID:31932463|PMID:31980526|PMID:32000831|PMID:32150461|PMID:32217467|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32393063|PMID:32395865|PMID:32399692|PMID:32425064|PMID:32461654|PMID:32512488|PMID:32528171|PMID:32653448|PMID:32674397|PMID:32696671|PMID:32740500|PMID:32741838|PMID:32746448|PMID:32749600|PMID:32789836|PMID:32852783|PMID:32861330|PMID:32880476
8783759	Ttr	transthyretin	gene	DOID:9001512	Familial Amyloid Polyneuropathies		ISO	RGD:737331	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Familial amyloid polyneuropathy | ClinVar Annotator: match by term: Familial amyloid polyneuropathy type III	PMID:32893242|PMID:32925285|PMID:33038745|PMID:33094885|PMID:33114611|PMID:33237279|PMID:33283548|PMID:33309574|PMID:33345470|PMID:33373035|PMID:3340821|PMID:33411102|PMID:33411323|PMID:33467513|PMID:33645214|PMID:33726816|PMID:33739616|PMID:33844361|PMID:34024775|PMID:34047656|PMID:34059423|PMID:34079032|PMID:34317109|PMID:34331265|PMID:34380564|PMID:34391735|PMID:34440326|PMID:34495297|PMID:34527900|PMID:3457802|PMID:34584389|PMID:34585077|PMID:34658264|PMID:34668655|PMID:34729535|PMID:34740514|PMID:34746851|PMID:3479441|PMID:35115086|PMID:35125479|PMID:35377943|PMID:35386059|PMID:35398489|PMID:35414855|PMID:35417510|PMID:35451899|PMID:35592550|PMID:35627273|PMID:35637921|PMID:35653365|PMID:35665045|PMID:35717381|PMID:35730447|PMID:35841533|PMID:35903975|PMID:35933469|PMID:36003663|PMID:36199823|PMID:36261369|PMID:3627183|PMID:36289657|PMID:36325894|PMID:36380794|PMID:36531853|PMID:36562013|PMID:36597836|PMID:36648052|PMID:3676699|PMID:36994840|PMID:37091313|PMID:3722385|PMID:37313193|PMID:37456934|PMID:3760189|PMID:3762958|PMID:37805173|PMID:37827496|PMID:37869146|PMID:37997196|PMID:38204330|PMID:38523305|PMID:38757395|PMID:3908483|PMID:3934968|PMID:39458146|PMID:39481677|PMID:4079954|PMID:4138132|PMID:4354899|PMID:4884226|PMID:4952599|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6099706|PMID:6100724|PMID:6168726|PMID:6208668|PMID:6300852|PMID:6310716|PMID:6311926|PMID:6487335|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7018469|PMID:7389759|PMID:7417777|PMID:7599630|PMID:7608709|PMID:7643356|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7850982|PMID:7868124|PMID:7906282|PMID:7910950|PMID:7914929|PMID:7923855|PMID:7951260|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095301|PMID:8095302|PMID:8100581|PMID:8102146|PMID:8133316|PMID:8194279|PMID:8218290|PMID:8257997|PMID:8275943|PMID:8345041|PMID:8352764|PMID:8406434|PMID:8428916|PMID:8509786|PMID:8536704|PMID:8563114|PMID:8579098|PMID:8692810|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:8960746|PMID:8990019|PMID:9017939|PMID:9017946|PMID:9066351|PMID:9090525|PMID:9196903|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9536098|PMID:9547003|PMID:9605286|PMID:9627498|PMID:9701270|PMID:9748014|PMID:9748569|PMID:9771673|PMID:9798666|PMID:9818054|PMID:9818883|PMID:9843084
8783759	Ttr	transthyretin	gene	DOID:9001512	Familial Amyloid Polyneuropathies		ISO	RGD:737331	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial amyloid neuropathy | ClinVar Annotator: match by term: Familial amyloid polyneuropathy	PMID:10211412|PMID:10506096|PMID:10611949|PMID:10762172|PMID:10842715|PMID:11261421|PMID:11385707|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12050338|PMID:12217248|PMID:12351683|PMID:12874413|PMID:12874414|PMID:1335038|PMID:14569203|PMID:14627687|PMID:14640030|PMID:15079068|PMID:15123043|PMID:15299640|PMID:15820680|PMID:16011990|PMID:16194874|PMID:16387053|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17143887|PMID:17251346|PMID:17503405|PMID:17551924|PMID:17576681|PMID:17968690|PMID:18042262|PMID:18069997|PMID:18276611|PMID:18318779|PMID:18830126|PMID:18925456|PMID:19180884|PMID:19644733|PMID:19781421|PMID:1979335|PMID:1997217|PMID:20301373|PMID:20435197|PMID:20840742|PMID:20981092|PMID:21406045|PMID:21600538|PMID:21692911|PMID:22083004|PMID:22184092|PMID:22187309|PMID:22320251|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22928869|PMID:22995991|PMID:23346293|PMID:2349941|PMID:2363717|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24053266|PMID:24070600|PMID:24073013|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25628512|PMID:25644864|PMID:25721874|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:26467025|PMID:26537620|PMID:26656838|PMID:27188913|PMID:27273296|PMID:27386769|PMID:27501389|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28102864|PMID:28475415|PMID:28492532|PMID:28605421|PMID:28635949|PMID:28802308|PMID:29246775|PMID:29493581|PMID:29520877|PMID:29764897|PMID:29875424|PMID:29883834|PMID:30093168|PMID:3032328|PMID:30683924|PMID:30813263|PMID:30938420|PMID:31103217|PMID:31135624|PMID:31359320|PMID:31368669|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31676763|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:32376792|PMID:32674397|PMID:33001386|PMID:33094885|PMID:33467513|PMID:33739616|PMID:33844361|PMID:34079032|PMID:34461737|PMID:34658264|PMID:34729535|PMID:35115086|PMID:35377943|PMID:35438637|PMID:35903975|PMID:35933469|PMID:37029471|PMID:37091313|PMID:3714052|PMID:37466024|PMID:37869146|PMID:38850014|PMID:39575713|PMID:7850982|PMID:7868124|PMID:8309582|PMID:8384721|PMID:8986762|PMID:9017939|PMID:9536098|PMID:9605286
8783759	Ttr	transthyretin	gene	DOID:9002395	Hypothermia		ISO	RGD:3916	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:frontal cortex	PMID:21377399|REF_RGD_ID:401901086
8783759	Ttr	transthyretin	gene	DOID:9004492	Familial Amyloidosis		ISO	RGD:737331	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:17701470|PMID:18326041
8783759	Ttr	transthyretin	gene	DOID:9004492	Familial Amyloidosis		ISO	RGD:737331	D	RGD:9068941	20260521	RGD			PMID:15995833|REF_RGD_ID:1580526
8783759	Ttr	transthyretin	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:737331	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17902193|PMID:19180532
8783759	Ttr	transthyretin	gene	DOID:9005236	Drug Eruptions		ISO	RGD:737331	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21055120
8783759	Ttr	transthyretin	gene	DOID:9006478	Amyloid Neuropathies		ISO	RGD:737331	D	RGD:9068941	20200609	RGD			PMID:15793844|REF_RGD_ID:1580527
8783759	Ttr	transthyretin	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:737331	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
8783759	Ttr	transthyretin	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:737331	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16099942
8783759	Ttr	transthyretin	gene	DOID:9008305	Talipes Cavus		ISO	RGD:737331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:1335038|PMID:22745357|PMID:22928869|PMID:2363717|PMID:23713495|PMID:24053266|PMID:25741868|PMID:27273296|PMID:28492532|PMID:29875424|PMID:30683924|PMID:31371117|PMID:34658264|PMID:37091313|PMID:37466024
8783759	Ttr	transthyretin	gene	DOID:9120	amyloidosis		ISO	RGD:737331	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Amyloidosis	PMID:10211412|PMID:10506096|PMID:10762172|PMID:10842715|PMID:11261421|PMID:11385707|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12050338|PMID:12217248|PMID:12228058|PMID:12874413|PMID:12874414|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14640031|PMID:15079068|PMID:15123043|PMID:15645642|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17062380|PMID:17251346|PMID:17503405|PMID:17551924|PMID:17577688|PMID:1786038|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:18925456|PMID:19644733|PMID:19752327|PMID:19781421|PMID:1979335|PMID:1997217|PMID:20301373|PMID:20435197|PMID:20981092|PMID:21540676|PMID:21600538|PMID:21679902|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22620967|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24070600|PMID:24073013|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24767411|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25636337|PMID:25741868|PMID:25741955|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26208957|PMID:26428663|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28102864|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29407121|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30070416|PMID:30093168|PMID:3032328|PMID:30638075|PMID:30683924|PMID:30813263|PMID:30938420|PMID:31006018|PMID:31103217|PMID:31135624|PMID:31359320|PMID:31368669|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:32674397|PMID:33001386|PMID:33467513|PMID:33739616|PMID:34047656|PMID:34079032|PMID:34461737|PMID:34729535|PMID:35115086|PMID:35377943|PMID:35592550|PMID:35730447|PMID:35903975|PMID:37029471|PMID:3714052|PMID:37869146|PMID:38850014|PMID:7850982|PMID:8038017|PMID:8309582|PMID:8384721|PMID:8986762|PMID:9017939
8783759	Ttr	transthyretin	gene	DOID:9256	colorectal cancer		ISO	RGD:737331	D	RGD:9068941	20220310	RGD		protein:decreased expression:blood serum (human)	PMID:21136704|REF_RGD_ID:151664608
8783767	Sycp2l	synaptonemal complex protein 2 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8783767	Sycp2l	synaptonemal complex protein 2 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8783767	Sycp2l	synaptonemal complex protein 2 like	gene	DOID:1115	sarcoma		ISO	RGD:1604969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8783767	Sycp2l	synaptonemal complex protein 2 like	gene	DOID:1324	lung cancer		ISO	RGD:1604969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8783767	Sycp2l	synaptonemal complex protein 2 like	gene	DOID:3275	thymoma		ISO	RGD:1604969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8783767	Sycp2l	synaptonemal complex protein 2 like	gene	DOID:4362	cervical cancer		ISO	RGD:1604969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8783767	Sycp2l	synaptonemal complex protein 2 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1604969	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8783767	Sycp2l	synaptonemal complex protein 2 like	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1604969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
8783767	Sycp2l	synaptonemal complex protein 2 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783767	Sycp2l	synaptonemal complex protein 2 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8783767	Sycp2l	synaptonemal complex protein 2 like	gene	DOID:9008728	PREMATURE OVARIAN FAILURE 24		ISO	RGD:1604969	D	RGD:7240710	20240619	OMIM			
8783767	Sycp2l	synaptonemal complex protein 2 like	gene	DOID:9008728	PREMATURE OVARIAN FAILURE 24		ISO	RGD:1604969	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 24 | ClinVar Annotator: match by term: Premature ovarian failure 24	PMID:25741868
8783767	Sycp2l	synaptonemal complex protein 2 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8783767	Sycp2l	synaptonemal complex protein 2 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8783810	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8783810	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency	PMID:25741868|PMID:25772934
8783810	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:0080198	infantile histiocytoid cardiomyopathy		ISO	RGD:1347474	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Histiocytoid cardiomyopathy	PMID:25741868|PMID:25772934
8783810	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:0111808	linear skin defects with multiple congenital anomalies 1		ISO	RGD:1347474	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 | ClinVar Annotator: match by term: MIDAS SYNDROME	PMID:25741868|PMID:25772934|PMID:28492532|PMID:34490615
8783810	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:0111875	MLS syndrome		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MLS syndrome	PMID:25741868|PMID:25772934
8783810	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:0111876	linear skin defects with multiple congenital anomalies 3		ISO	RGD:1347474	D	RGD:7240710	20180130	OMIM			
8783810	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:0111876	linear skin defects with multiple congenital anomalies 3		ISO	RGD:1347474	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: LINEAR SKIN DEFECTS WITH CARDIOMYOPATHY AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3 | ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 3	PMID:25741868|PMID:25772934|PMID:26741492|PMID:27488349|PMID:28050600|PMID:28492532|PMID:30423443|PMID:31243186|PMID:36252119
8783810	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:25741868|PMID:25772934
8783810	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:0112098	nuclear type mitochondrial complex I deficiency 30		ISO	RGD:1347474	D	RGD:7240710	20190315	OMIM			
8783810	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:0112098	nuclear type mitochondrial complex I deficiency 30		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 30 | ClinVar Annotator: match by term: NDUFB11-related disorders	PMID:25741868|PMID:25772934|PMID:26741492|PMID:27488349|PMID:28050600|PMID:28492532|PMID:30423443|PMID:31243186|PMID:36252119
8783810	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:10579	leukodystrophy		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868
8783810	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:1059	intellectual disability		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8783810	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868
8783810	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:5041	esophageal cancer		ISO	RGD:1347474	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8783810	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:543	dystonia		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
8783810	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783810	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:630	genetic disease		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8783810	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:9000495	Tremor		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868
8783810	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1347474	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8783810	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8783835	Hp1bp3	heterochromatin protein 1 binding protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8783835	Hp1bp3	heterochromatin protein 1 binding protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8783835	Hp1bp3	heterochromatin protein 1 binding protein 3	gene	DOID:0060058	lymphoma		ISO	RGD:1606796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8783835	Hp1bp3	heterochromatin protein 1 binding protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1606796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8783835	Hp1bp3	heterochromatin protein 1 binding protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1606796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8783835	Hp1bp3	heterochromatin protein 1 binding protein 3	gene	DOID:1909	melanoma		ISO	RGD:1606796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8783835	Hp1bp3	heterochromatin protein 1 binding protein 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8783835	Hp1bp3	heterochromatin protein 1 binding protein 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8783835	Hp1bp3	heterochromatin protein 1 binding protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1606796	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8783835	Hp1bp3	heterochromatin protein 1 binding protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783835	Hp1bp3	heterochromatin protein 1 binding protein 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1606796	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8783835	Hp1bp3	heterochromatin protein 1 binding protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8783835	Hp1bp3	heterochromatin protein 1 binding protein 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606796	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8783835	Hp1bp3	heterochromatin protein 1 binding protein 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8783835	Hp1bp3	heterochromatin protein 1 binding protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8783835	Hp1bp3	heterochromatin protein 1 binding protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8783869	Ddo	D-aspartate oxidase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8783869	Ddo	D-aspartate oxidase	gene	DOID:1876	sexual dysfunction		ISO	RGD:1314668	D	RGD:9068941	20211015	CTD		CTD Direct Evidence: marker/mechanism	PMID:16525061
8783869	Ddo	D-aspartate oxidase	gene	DOID:1909	melanoma		ISO	RGD:1314668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8783869	Ddo	D-aspartate oxidase	gene	DOID:9004657	Weight Gain		ISO	RGD:1314668	D	RGD:9068941	20211015	CTD		CTD Direct Evidence: marker/mechanism	PMID:16525061
8783869	Ddo	D-aspartate oxidase	gene	DOID:9004866	Ataxia		ISO	RGD:1314668	D	RGD:9068941	20211015	CTD		CTD Direct Evidence: therapeutic	PMID:25979765
8783869	Ddo	D-aspartate oxidase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8783869	Ddo	D-aspartate oxidase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8783901	Csnk1a1	casein kinase 1 alpha 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8783901	Csnk1a1	casein kinase 1 alpha 1	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:736167	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437031
8783901	Csnk1a1	casein kinase 1 alpha 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8783901	Csnk1a1	casein kinase 1 alpha 1	gene	DOID:10534	stomach cancer		ISO	RGD:736167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8783901	Csnk1a1	casein kinase 1 alpha 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736167	D	RGD:9068941	20200609	RGD		protein:increased expression:CA1 field of hippocampus:	PMID:10514399|REF_RGD_ID:10395229
8783901	Csnk1a1	casein kinase 1 alpha 1	gene	DOID:1909	melanoma		ISO	RGD:736167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8783901	Csnk1a1	casein kinase 1 alpha 1	gene	DOID:3429	inclusion body myositis		ISO	RGD:736167	D	RGD:9068941	20200609	RGD		protein:increased expression:muscle:	PMID:18191026|REF_RGD_ID:10395231
8783901	Csnk1a1	casein kinase 1 alpha 1	gene	DOID:4362	cervical cancer		ISO	RGD:736167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8783901	Csnk1a1	casein kinase 1 alpha 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8783901	Csnk1a1	casein kinase 1 alpha 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8783901	Csnk1a1	casein kinase 1 alpha 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783901	Csnk1a1	casein kinase 1 alpha 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8783901	Csnk1a1	casein kinase 1 alpha 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:736167	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16759393
8783901	Csnk1a1	casein kinase 1 alpha 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8783901	Csnk1a1	casein kinase 1 alpha 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8783948	Irf2bp2	interferon regulatory factor 2 binding protein 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8783948	Irf2bp2	interferon regulatory factor 2 binding protein 2	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1603839	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25583766
8783948	Irf2bp2	interferon regulatory factor 2 binding protein 2	gene	DOID:0081156	common variable immunodeficiency 14		ISO	RGD:1603839	D	RGD:7240710	20190315	OMIM			
8783948	Irf2bp2	interferon regulatory factor 2 binding protein 2	gene	DOID:0081156	common variable immunodeficiency 14		ISO	RGD:1603839	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IRF2BP2-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 | ClinVar Annotator: match by term: immunodeficiency, common variable, 14	PMID:25741868|PMID:28492532|PMID:33859323|PMID:35538558|PMID:37876937|PMID:39415980
8783948	Irf2bp2	interferon regulatory factor 2 binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8783948	Irf2bp2	interferon regulatory factor 2 binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8783948	Irf2bp2	interferon regulatory factor 2 binding protein 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8783948	Irf2bp2	interferon regulatory factor 2 binding protein 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8783948	Irf2bp2	interferon regulatory factor 2 binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8783948	Irf2bp2	interferon regulatory factor 2 binding protein 2	gene	DOID:3312	bipolar disorder		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:28492532
8783948	Irf2bp2	interferon regulatory factor 2 binding protein 2	gene	DOID:419	scleroderma		ISO	RGD:1603839	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scleroderma	PMID:25741868
8783948	Irf2bp2	interferon regulatory factor 2 binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8783948	Irf2bp2	interferon regulatory factor 2 binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8783948	Irf2bp2	interferon regulatory factor 2 binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783948	Irf2bp2	interferon regulatory factor 2 binding protein 2	gene	DOID:9003788	Immune Deficiency, Familial Variable		ISO	RGD:1603839	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Immune deficiency, familial variable	PMID:25741868
8783948	Irf2bp2	interferon regulatory factor 2 binding protein 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
8783948	Irf2bp2	interferon regulatory factor 2 binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8783948	Irf2bp2	interferon regulatory factor 2 binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8783960	Mocs3	molybdenum cofactor synthesis 3	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1316006	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	
8783960	Mocs3	molybdenum cofactor synthesis 3	gene	DOID:9009398	Molybdenum cofactor deficiency, type B2		ISO	RGD:1316006	D	RGD:7240710	20251105	OMIM			
8783960	Mocs3	molybdenum cofactor synthesis 3	gene	DOID:9009398	Molybdenum cofactor deficiency, type B2		ISO	RGD:1316006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MOLYBDENUM COFACTOR DEFICIENCY, TYPE B2	
8783965	Zbtb8a	zinc finger and BTB domain containing 8A	gene	DOID:1909	melanoma		ISO	RGD:1318711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8783965	Zbtb8a	zinc finger and BTB domain containing 8A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8783965	Zbtb8a	zinc finger and BTB domain containing 8A	gene	DOID:5041	esophageal cancer		ISO	RGD:1318711	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8783965	Zbtb8a	zinc finger and BTB domain containing 8A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783988	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8783988	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:0111163	molybdenum cofactor deficiency type B		ISO	RGD:1347583	D	RGD:7240710	20180130	OMIM			
8783988	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:0111163	molybdenum cofactor deficiency type B		ISO	RGD:1347583	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MOCS2-related condition | ClinVar Annotator: match by term: MOLYBDENUM COFACTOR DEFICIENCY, TYPE B1 | ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group B	PMID:10053004|PMID:10746556|PMID:11746050|PMID:12754701|PMID:16021469|PMID:17576681|PMID:21031595|PMID:21907887|PMID:22403017|PMID:23539623|PMID:25741868|PMID:26644055|PMID:28492532|PMID:28900816|PMID:30900395|PMID:31201073|PMID:35192225|PMID:37596007|PMID:39400946|PMID:9536098
8783988	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:0111165	molybdenum cofactor deficiency		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Molybdenum cofactor deficiency	PMID:16021469|PMID:25709896|PMID:25741868|PMID:28492532|PMID:31201073|PMID:35692435
8783988	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:0111270	isolated sulfite oxidase deficiency		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sulfite oxidase deficiency	PMID:10053004|PMID:10746556|PMID:12754701|PMID:16021469|PMID:17576681|PMID:21907887|PMID:22403017|PMID:23539623|PMID:25741868|PMID:26644055|PMID:28492532|PMID:28900816|PMID:30900395|PMID:31201073|PMID:35192225|PMID:37596007|PMID:39400946|PMID:9536098
8783988	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8783988	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
8783988	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:10053004|PMID:10746556|PMID:12754701|PMID:16021469|PMID:17576681|PMID:21907887|PMID:22403017|PMID:23539623|PMID:25741868|PMID:26644055|PMID:28492532|PMID:28900816|PMID:30900395|PMID:31201073|PMID:35192225|PMID:37596007|PMID:39400946|PMID:9536098
8783988	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:1909	melanoma		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8783988	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:4724	brain edema		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral edema	PMID:10053004|PMID:10746556|PMID:12754701|PMID:16021469|PMID:17576681|PMID:21907887|PMID:22403017|PMID:23539623|PMID:25741868|PMID:26644055|PMID:28492532|PMID:28900816|PMID:30900395|PMID:31201073|PMID:35192225|PMID:37596007|PMID:39400946|PMID:9536098
8783988	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8783988	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8783988	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:630	genetic disease		ISO	RGD:1347583	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8783988	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8783988	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:8442	paralytic ileus		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paralytic ileus	PMID:10053004|PMID:10746556|PMID:12754701|PMID:16021469|PMID:17576681|PMID:21907887|PMID:22403017|PMID:23539623|PMID:25741868|PMID:26644055|PMID:28492532|PMID:28900816|PMID:30900395|PMID:31201073|PMID:35192225|PMID:37596007|PMID:39400946|PMID:9536098
8783988	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonic seizure	PMID:10053004|PMID:10746556|PMID:12754701|PMID:16021469|PMID:17576681|PMID:21907887|PMID:22403017|PMID:23539623|PMID:25741868|PMID:26644055|PMID:28492532|PMID:28900816|PMID:30900395|PMID:31201073|PMID:35192225|PMID:37596007|PMID:39400946|PMID:9536098
8783988	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:10053004|PMID:10746556|PMID:12754701|PMID:16021469|PMID:17576681|PMID:21907887|PMID:22403017|PMID:23539623|PMID:25741868|PMID:26644055|PMID:28492532|PMID:28900816|PMID:30900395|PMID:31201073|PMID:35192225|PMID:37596007|PMID:39400946|PMID:9536098
8783988	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematochezia	PMID:10053004|PMID:10746556|PMID:12754701|PMID:16021469|PMID:17576681|PMID:21907887|PMID:22403017|PMID:23539623|PMID:25741868|PMID:26644055|PMID:28492532|PMID:28900816|PMID:30900395|PMID:31201073|PMID:35192225|PMID:37596007|PMID:39400946|PMID:9536098
8784006	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8784006	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:0090033	myoclonic dystonia		ISO	RGD:1353287	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8784006	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:0090036	myoclonic dystonia 26		ISO	RGD:1353287	D	RGD:7240710	20180130	OMIM			
8784006	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:0090036	myoclonic dystonia 26		ISO	RGD:1353287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DYSTONIA 26, MYOCLONIC | ClinVar Annotator: match by term: Dystonia 26, myoclonic | ClinVar Annotator: match by term: KCTD17-related condition | ClinVar Annotator: match by term: Myoclonic dystonia 26	PMID:17576681|PMID:25741868|PMID:25983243|PMID:28492532|PMID:30579817|PMID:30642807|PMID:9536098
8784006	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:10534	stomach cancer		ISO	RGD:1353287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8784006	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:1115	sarcoma		ISO	RGD:1353287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8784006	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:1324	lung cancer		ISO	RGD:1353287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8784006	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:1909	melanoma		ISO	RGD:1353287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8784006	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:3275	thymoma		ISO	RGD:1353287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8784006	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784006	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:630	genetic disease		ISO	RGD:1353287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8784006	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8784006	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8784043	Nxn	nucleoredoxin	gene	DOID:0050581	brachydactyly		ISO	RGD:1321419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
8784043	Nxn	nucleoredoxin	gene	DOID:0060974	autosomal recessive Robinow syndrome 2		ISO	RGD:1321419	D	RGD:7240710	20190904	OMIM			
8784043	Nxn	nucleoredoxin	gene	DOID:0060974	autosomal recessive Robinow syndrome 2		ISO	RGD:1321419	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: NXN-related condition | ClinVar Annotator: match by term: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive 2	PMID:25741868|PMID:28492532|PMID:29276006
8784043	Nxn	nucleoredoxin	gene	DOID:1324	lung cancer		ISO	RGD:1321419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8784043	Nxn	nucleoredoxin	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1321419	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8784043	Nxn	nucleoredoxin	gene	DOID:3275	thymoma		ISO	RGD:1321419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8784043	Nxn	nucleoredoxin	gene	DOID:4362	cervical cancer		ISO	RGD:1321419	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8784043	Nxn	nucleoredoxin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784043	Nxn	nucleoredoxin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321419	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8784043	Nxn	nucleoredoxin	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1321419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868
8784043	Nxn	nucleoredoxin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8784043	Nxn	nucleoredoxin	gene	DOID:9007661	Dwarfism		ISO	RGD:1321419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8784043	Nxn	nucleoredoxin	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1321419	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24836286
8784056	Brd9	bromodomain containing 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8784056	Brd9	bromodomain containing 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8784056	Brd9	bromodomain containing 9	gene	DOID:10534	stomach cancer		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8784056	Brd9	bromodomain containing 9	gene	DOID:1115	sarcoma		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8784056	Brd9	bromodomain containing 9	gene	DOID:1909	melanoma		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8784056	Brd9	bromodomain containing 9	gene	DOID:3275	thymoma		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8784056	Brd9	bromodomain containing 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8784056	Brd9	bromodomain containing 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1316511	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8784056	Brd9	bromodomain containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784056	Brd9	bromodomain containing 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8784056	Brd9	bromodomain containing 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8784056	Brd9	bromodomain containing 9	gene	DOID:8541	Sezary's disease		ISO	RGD:1316511	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26551667
8784056	Brd9	bromodomain containing 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8784056	Brd9	bromodomain containing 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8784081	Ucn	urocortin	gene	DOID:0060180	colitis		ISO	RGD:3929	D	RGD:9068941	20200609	RGD		mRNA:altered expression:distal colon (rat)	PMID:21330446|REF_RGD_ID:5490987
8784081	Ucn	urocortin	gene	DOID:0080855	Parkinsonism		ISO	RGD:3929	D	RGD:9068941	20200609	RGD			PMID:21362449|REF_RGD_ID:5508188
8784081	Ucn	urocortin	gene	DOID:10763	hypertension		ISO	RGD:1349219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20237592
8784081	Ucn	urocortin	gene	DOID:10763	hypertension		ISO	RGD:1349219	D	RGD:9068941	20200609	RGD		associated with Pregnancy Complications;protein:increased expression:plasma	PMID:16915033|REF_RGD_ID:1642775
8784081	Ucn	urocortin	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1349219	D	RGD:9068941	20200609	RGD			PMID:14577573|REF_RGD_ID:1580792
8784081	Ucn	urocortin	gene	DOID:12918	thromboangiitis obliterans		ISO	RGD:3929	D	RGD:9068941	20200609	RGD			PMID:19572944|REF_RGD_ID:5508315
8784081	Ucn	urocortin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1349219	D	RGD:9068941	20200609	RGD			PMID:14577573|REF_RGD_ID:1580792
8784081	Ucn	urocortin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1349219	D	RGD:9068941	20200609	RGD		protein:increased expression:heart left ventricle	PMID:11087261|REF_RGD_ID:1642796
8784081	Ucn	urocortin	gene	DOID:2030	anxiety disorder		ISO	RGD:1349219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16488545
8784081	Ucn	urocortin	gene	DOID:2841	asthma		ISO	RGD:3929	D	RGD:9068941	20200609	RGD		associated with Hypersensitivity;mRNA, protein:increased expression:lung	PMID:16427607|REF_RGD_ID:1642781
8784081	Ucn	urocortin	gene	DOID:6000	congestive heart failure		ISO	RGD:1349219	D	RGD:9068941	20200609	RGD		protein:increased secretion:plasma (human)	PMID:19808377|REF_RGD_ID:5490589
8784081	Ucn	urocortin	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:3929	D	RGD:9068941	20200609	RGD		associated with Hypertension;mRNA:increased expression:heart left ventricle	PMID:11087261|REF_RGD_ID:1642796
8784081	Ucn	urocortin	gene	DOID:9005372	Inflammation		ISO	RGD:1349219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10213916
8784081	Ucn	urocortin	gene	DOID:9006024	Hypotension		ISO	RGD:1349219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10213916
8784081	Ucn	urocortin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8784081	Ucn	urocortin	gene	DOID:9007730	Burns		ISO	RGD:3929	D	RGD:9068941	20200609	RGD			PMID:16125201|REF_RGD_ID:1642782
8784081	Ucn	urocortin	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:3929	D	RGD:9068941	20200609	RGD			PMID:15806110|REF_RGD_ID:1642783
8784081	Ucn	urocortin	gene	DOID:9970	obesity	treatment	ISO	RGD:735588	D	RGD:9068941	20200609	RGD			PMID:17932219|REF_RGD_ID:1642774
8784087	Cd200r1	CD200 receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8784087	Cd200r1	CD200 receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8784087	Cd200r1	CD200 receptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1606724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8784087	Cd200r1	CD200 receptor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8784087	Cd200r1	CD200 receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606724	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8784087	Cd200r1	CD200 receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784087	Cd200r1	CD200 receptor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606724	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8784087	Cd200r1	CD200 receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8784087	Cd200r1	CD200 receptor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8784107	Isx	intestine specific homeobox	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1605896	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:35687267
8784137	Tlr2	toll like receptor 2	gene	DOID:0050073	invasive aspergillosis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:16113258|REF_RGD_ID:8553022
8784137	Tlr2	toll like receptor 2	gene	DOID:0050127	sinusitis		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nasal cavity epithelium:	PMID:14743629|REF_RGD_ID:8552991
8784137	Tlr2	toll like receptor 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1353654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15505089
8784137	Tlr2	toll like receptor 2	gene	DOID:0050741	alcohol dependence		ISO	RGD:1353654	D	RGD:9068941	20250123	RGD		protein:increased expression:orbitofrontal cortex	PMID:23206318|REF_RGD_ID:7175526
8784137	Tlr2	toll like receptor 2	gene	DOID:0050855	renal fibrosis		ISO	RGD:735138	D	RGD:9068941	20200609	RGD		associated with Ureteral Obstruction	PMID:22777483|REF_RGD_ID:7207895
8784137	Tlr2	toll like receptor 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1353654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28963909
8784137	Tlr2	toll like receptor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8784137	Tlr2	toll like receptor 2	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:735138	D	RGD:9068941	20241017	RGD		mRNA:increased expression:colon	PMID:22242189|REF_RGD_ID:151347836
8784137	Tlr2	toll like receptor 2	gene	DOID:0060189	ileitis		ISO	RGD:735138	D	RGD:9068941	20200609	RGD			PMID:18266231|REF_RGD_ID:2312714
8784137	Tlr2	toll like receptor 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		protein:increased expression:monocyte:	PMID:19167648|REF_RGD_ID:8552974
8784137	Tlr2	toll like receptor 2	gene	DOID:0060322	mastoiditis		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		protein:increased expression:mucosa of middle ear,skin of ear canal:	PMID:24690988|REF_RGD_ID:8552995
8784137	Tlr2	toll like receptor 2	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	ISO	RGD:735138	D	RGD:9068941	20240801	RGD			PMID:23277536|REF_RGD_ID:407424596
8784137	Tlr2	toll like receptor 2	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:1551003	D	RGD:9068941	20250125	RGD		mRNA:increased expression:liver	PMID:16628628|REF_RGD_ID:597538497
8784137	Tlr2	toll like receptor 2	gene	DOID:0070658	alcohol-associated liver disease	treatment	ISO	RGD:1551003	D	RGD:9068941	20250125	RGD			PMID:30353422|REF_RGD_ID:597538498
8784137	Tlr2	toll like receptor 2	gene	DOID:0080158	herpes simplex virus keratitis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:17686871|REF_RGD_ID:7794851
8784137	Tlr2	toll like receptor 2	gene	DOID:0080176	meningococcal meningitis	susceptibility	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:haplotype: :2477G>A(rs5743708)(human)	PMID:23691182|REF_RGD_ID:7800668
8784137	Tlr2	toll like receptor 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	sexual_dimorphism	ISO	RGD:735138	D	RGD:9068941	20250125	RGD		mRNA:increased expression:liver	PMID:33770523|REF_RGD_ID:597538511
8784137	Tlr2	toll like receptor 2	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:29482933|REF_RGD_ID:15090806
8784137	Tlr2	toll like receptor 2	gene	DOID:0080600	COVID-19		ISO	RGD:1353654	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: COVID-19–associated multisystem inflammatory syndrome in adults	
8784137	Tlr2	toll like receptor 2	gene	DOID:0080784	urinary tract infection	susceptibility	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.R753Q (human)	PMID:18001294|REF_RGD_ID:7240561
8784137	Tlr2	toll like receptor 2	gene	DOID:0080998	acute necrotizing pancreatitis		ISO	RGD:735138	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:16524509|REF_RGD_ID:2312724
8784137	Tlr2	toll like receptor 2	gene	DOID:10074	hymenolepiasis		ISO	RGD:735138	D	RGD:9068941	20250130	RGD		mRNA:increased expression:jejunum, colon	PMID:22209940|REF_RGD_ID:597538541
8784137	Tlr2	toll like receptor 2	gene	DOID:10140	dry eye syndrome		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		associated with Graft vs Host Disease;mRNA:increased expression:peripheral blood cell:	PMID:22025895|REF_RGD_ID:8552821
8784137	Tlr2	toll like receptor 2	gene	DOID:10140	dry eye syndrome		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:cornea,conjunctiva,lacrimal gland:	PMID:23372055|REF_RGD_ID:8552916
8784137	Tlr2	toll like receptor 2	gene	DOID:10223	dermatomyositis		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:muscle	PMID:19953283|REF_RGD_ID:7794747
8784137	Tlr2	toll like receptor 2	gene	DOID:1024	leprosy		ISO	RGD:1353654	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LEPROSY, SUSCEPTIBILITY TO, 3	
8784137	Tlr2	toll like receptor 2	gene	DOID:1024	leprosy	susceptibility	ISO	RGD:1353654	D	RGD:7240710	20190502	OMIM			
8784137	Tlr2	toll like receptor 2	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:deletion:promoter:&#8722;196_&#8722;174del (human)	PMID:22311043|REF_RGD_ID:7207899
8784137	Tlr2	toll like receptor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1353654	D	RGD:9068941	20250123	RGD		DNA:deletion:promoter	PMID:22468087|REF_RGD_ID:597538463
8784137	Tlr2	toll like receptor 2	gene	DOID:1074	kidney failure		ISO	RGD:735138	D	RGD:9068941	20200609	RGD			PMID:16177646|REF_RGD_ID:7241085
8784137	Tlr2	toll like receptor 2	gene	DOID:10754	otitis media		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		protein:increased expression:middle ear:	PMID:23380629|REF_RGD_ID:7800666
8784137	Tlr2	toll like receptor 2	gene	DOID:10754	otitis media		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		protein:increased expression:mucosa of middle ear,skin of ear canal:	PMID:24690988|REF_RGD_ID:8552995
8784137	Tlr2	toll like receptor 2	gene	DOID:10754	otitis media		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD		associated with Haemophilus Infections;	PMID:19586996|REF_RGD_ID:7777086
8784137	Tlr2	toll like receptor 2	gene	DOID:10754	otitis media		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD		associated with Pneumococcal Infections;	PMID:19414550|REF_RGD_ID:8552783
8784137	Tlr2	toll like receptor 2	gene	DOID:10825	essential hypertension		ISO	RGD:1353654	D	RGD:9068941	20221110	CTD		CTD Direct Evidence: marker/mechanism	PMID:34453990
8784137	Tlr2	toll like receptor 2	gene	DOID:10873	Kuhnt-Junius degeneration		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		mRNA:increased expression:peripheral blood mononuclear cell:	PMID:23946637|REF_RGD_ID:8552827
8784137	Tlr2	toll like receptor 2	gene	DOID:10964	cholesteatoma of middle ear		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		protein:increased expression:mucosa of middle ear,skin of ear canal:	PMID:24690988|REF_RGD_ID:8552995
8784137	Tlr2	toll like receptor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:deletion:promoter:&#8722;196_&#8722;174del (human)	PMID:23142523|REF_RGD_ID:7207893
8784137	Tlr2	toll like receptor 2	gene	DOID:11168	anogenital venereal wart		ISO	RGD:1353654	D	RGD:9068941	20201105	RGD		mRNA,protein:increased expression:multiple (human)	PMID:23754510|REF_RGD_ID:40400714
8784137	Tlr2	toll like receptor 2	gene	DOID:11204	allergic conjunctivitis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD		associated with Staphylococcal Infections;	PMID:19358332|REF_RGD_ID:8552826
8784137	Tlr2	toll like receptor 2	gene	DOID:11339	pneumocystosis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:18400546|REF_RGD_ID:4145341
8784137	Tlr2	toll like receptor 2	gene	DOID:11506	suppurative otitis media		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:mucosa:	PMID:22883581|REF_RGD_ID:7800662
8784137	Tlr2	toll like receptor 2	gene	DOID:12148	alveolar echinococcosis		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		mRNA:increased expression:PBMC	PMID:30141853|REF_RGD_ID:15090814
8784137	Tlr2	toll like receptor 2	gene	DOID:12306	vitiligo	susceptibility	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:p.R753Q(human)	PMID:22429552|REF_RGD_ID:7777152
8784137	Tlr2	toll like receptor 2	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:19019963|REF_RGD_ID:4889534
8784137	Tlr2	toll like receptor 2	gene	DOID:13001	carotid stenosis	treatment	ISO	RGD:735138	D	RGD:9068941	20200609	RGD			PMID:22167462|REF_RGD_ID:7241095
8784137	Tlr2	toll like receptor 2	gene	DOID:13078	eumycotic mycetoma		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD		mRNA:increased expression:footpad:	PMID:21205004|REF_RGD_ID:7794752
8784137	Tlr2	toll like receptor 2	gene	DOID:13241	Behcet's disease		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		mRNA:increased expression:intestine:	PMID:18336589|REF_RGD_ID:8552915
8784137	Tlr2	toll like receptor 2	gene	DOID:13241	Behcet's disease		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		protein,mRNA:increased expression:peripheral blood mononuclear cell	PMID:23908180|REF_RGD_ID:8552883
8784137	Tlr2	toll like receptor 2	gene	DOID:13241	Behcet's disease	no_association	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :12408G>A(human)	PMID:19796535|REF_RGD_ID:8552888
8784137	Tlr2	toll like receptor 2	gene	DOID:13241	Behcet's disease	susceptibility	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:SNPs: : rs2289318,rs3804099(human)	PMID:24255044|REF_RGD_ID:8552885
8784137	Tlr2	toll like receptor 2	gene	DOID:13258	typhoid fever		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:25667264|REF_RGD_ID:11061268
8784137	Tlr2	toll like receptor 2	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:alveolar macrophage	PMID:20813038|REF_RGD_ID:4145301
8784137	Tlr2	toll like receptor 2	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:23668840|REF_RGD_ID:8553184
8784137	Tlr2	toll like receptor 2	gene	DOID:13406	pulmonary sarcoidosis	treatment	ISO	RGD:1353654	D	RGD:9068941	20250123	RGD			PMID:22878868|REF_RGD_ID:597538465
8784137	Tlr2	toll like receptor 2	gene	DOID:13564	aspergillosis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:19781388|REF_RGD_ID:4145322
8784137	Tlr2	toll like receptor 2	gene	DOID:13580	cholestasis		ISO	RGD:1353654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
8784137	Tlr2	toll like receptor 2	gene	DOID:13603	obstructive jaundice	treatment	ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:29366780|REF_RGD_ID:15090858
8784137	Tlr2	toll like receptor 2	gene	DOID:13767	clonorchiasis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:28784165|REF_RGD_ID:15090810
8784137	Tlr2	toll like receptor 2	gene	DOID:13809	familial combined hyperlipidemia		ISO	RGD:1353654	D	RGD:9068941	20250130	RGD		mRNA:increased expression:peripheral blood mononuclear cell	PMID:26497845|REF_RGD_ID:11536351
8784137	Tlr2	toll like receptor 2	gene	DOID:13809	familial combined hyperlipidemia	treatment	ISO	RGD:735138	D	RGD:9068941	20250130	RGD			PMID:26497845|REF_RGD_ID:11536351
8784137	Tlr2	toll like receptor 2	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:1353654	D	RGD:9068941	20250123	RGD		protein:increased expression:blood, neutrophil	PMID:18433921|REF_RGD_ID:5130706
8784137	Tlr2	toll like receptor 2	gene	DOID:1407	anterior uveitis		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD			PMID:17389503|REF_RGD_ID:8552823
8784137	Tlr2	toll like receptor 2	gene	DOID:14221	abdominal obesity-metabolic syndrome 1	susceptibility	ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:19841034|REF_RGD_ID:15090861
8784137	Tlr2	toll like receptor 2	gene	DOID:1495	cystic echinococcosis		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		mRNA:increased expression:peripheral blood monocyte:	PMID:21923667|REF_RGD_ID:18182935
8784137	Tlr2	toll like receptor 2	gene	DOID:1495	cystic echinococcosis	disease_progression	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:Arg753Gln(human)	PMID:31437685|REF_RGD_ID:15090825
8784137	Tlr2	toll like receptor 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:1353654	D	RGD:9068941	20250123	RGD		mRNA:increased expression:respiratory system fluid/secretion	PMID:26208141|REF_RGD_ID:11342768
8784137	Tlr2	toll like receptor 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:1353654	D	RGD:9068941	20250123	RGD		protein:decreased expression:blood, monocyte	PMID:27256567|REF_RGD_ID:597538485
8784137	Tlr2	toll like receptor 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:1353654	D	RGD:9068941	20250125	RGD		mRNA:increased expression:orbitofrontal cortex	PMID:34415075|REF_RGD_ID:597538499
8784137	Tlr2	toll like receptor 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:735138	D	RGD:9068941	20250123	RGD		mRNA:increased expression:liver	PMID:30756376|REF_RGD_ID:597538493
8784137	Tlr2	toll like receptor 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:735138	D	RGD:9068941	20250123	RGD		protein:decreased expression:alveolar macrophage	PMID:36281822|REF_RGD_ID:597538461
8784137	Tlr2	toll like receptor 2	gene	DOID:1580	diffuse scleroderma	disease_progression	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.P631H(rs5743704)(human)	PMID:21905008|REF_RGD_ID:8553044
8784137	Tlr2	toll like receptor 2	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:deletion:promotor:-196_-174del(human)	PMID:22560646|REF_RGD_ID:7794753
8784137	Tlr2	toll like receptor 2	gene	DOID:1936	atherosclerosis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:17466307|REF_RGD_ID:8552973
8784137	Tlr2	toll like receptor 2	gene	DOID:2043	hepatitis B	treatment	ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:30008718|REF_RGD_ID:15090859
8784137	Tlr2	toll like receptor 2	gene	DOID:224	transient cerebral ischemia	onset	ISO	RGD:735138	D	RGD:9068941	20250130	RGD			PMID:31056875|REF_RGD_ID:597538523
8784137	Tlr2	toll like receptor 2	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:1551003	D	RGD:9068941	20250125	RGD			PMID:22800826|REF_RGD_ID:597538505
8784137	Tlr2	toll like receptor 2	gene	DOID:2297	leptospirosis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:19635914|REF_RGD_ID:7240557
8784137	Tlr2	toll like receptor 2	gene	DOID:2841	asthma		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs3804100 (human)	PMID:19148143|REF_RGD_ID:2312679
8784137	Tlr2	toll like receptor 2	gene	DOID:2841	asthma		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:18202345|PMID:18787777|REF_RGD_ID:4145334|REF_RGD_ID:4145343
8784137	Tlr2	toll like receptor 2	gene	DOID:2841	asthma	severity	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.R753Q(human)	PMID:22402138|REF_RGD_ID:7800732
8784137	Tlr2	toll like receptor 2	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:SNP: :596T>C (human)	PMID:19096003|REF_RGD_ID:4144228
8784137	Tlr2	toll like receptor 2	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs4696480 (human)	PMID:20685742|REF_RGD_ID:4144171
8784137	Tlr2	toll like receptor 2	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs7656411 (human)	PMID:20815312|REF_RGD_ID:4145352
8784137	Tlr2	toll like receptor 2	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD		mRNA:increased expression:renal glomerulus (mouse)	PMID:18256364|REF_RGD_ID:7246909
8784137	Tlr2	toll like receptor 2	gene	DOID:2921	glomerulonephritis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:16849506|REF_RGD_ID:7241071
8784137	Tlr2	toll like receptor 2	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (human)	PMID:19635508|REF_RGD_ID:5490168
8784137	Tlr2	toll like receptor 2	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :multiple (human)	PMID:20113509|REF_RGD_ID:4145320
8784137	Tlr2	toll like receptor 2	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:blood, T cell	PMID:19552525|REF_RGD_ID:4145355
8784137	Tlr2	toll like receptor 2	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1353654	D	RGD:9068941	20260117	RGD		DNA:SNP: :rs1898830	PMID:38706548|REF_RGD_ID:630350572
8784137	Tlr2	toll like receptor 2	gene	DOID:2957	pulmonary tuberculosis	onset	ISO	RGD:1353654	D	RGD:9068941	20260115	RGD		DNA:SNP:exon:c.597���T>C (rs3804099)��	PMID:30529560|REF_RGD_ID:630350409
8784137	Tlr2	toll like receptor 2	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1816702 (human)	PMID:19723394|REF_RGD_ID:4145323
8784137	Tlr2	toll like receptor 2	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron (human)	PMID:20298136|REF_RGD_ID:4145304
8784137	Tlr2	toll like receptor 2	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1353654	D	RGD:9068941	20260115	RGD		DNA: SNP: : rs5743708	PMID:25928077|REF_RGD_ID:630350564
8784137	Tlr2	toll like receptor 2	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1353654	D	RGD:9068941	20260115	RGD		DNA:SNPs:exon:rs5743704, rs5743708, rs3804099	PMID:37051380|REF_RGD_ID:630350413
8784137	Tlr2	toll like receptor 2	gene	DOID:3021	acute kidney failure		ISO	RGD:1353654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29286200
8784137	Tlr2	toll like receptor 2	gene	DOID:3021	acute kidney failure		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD		associated with Sepsis	PMID:22655058|REF_RGD_ID:7207898
8784137	Tlr2	toll like receptor 2	gene	DOID:3178	skin papilloma		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		protein:increased expression,altered expression:cytoplasm,membrane, nucleus:	PMID:24617037|REF_RGD_ID:8553046
8784137	Tlr2	toll like receptor 2	gene	DOID:3310	atopic dermatitis		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD			PMID:17531301|REF_RGD_ID:8552999
8784137	Tlr2	toll like receptor 2	gene	DOID:3310	atopic dermatitis	severity	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :-16934A>T(human)	PMID:19627277|REF_RGD_ID:8552997
8784137	Tlr2	toll like receptor 2	gene	DOID:3310	atopic dermatitis	severity	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.R753Q(human)	PMID:22032785|REF_RGD_ID:8553048
8784137	Tlr2	toll like receptor 2	gene	DOID:3410	carotid artery thrombosis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:28572286|REF_RGD_ID:15090824
8784137	Tlr2	toll like receptor 2	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1551003	D	RGD:9068941	20250123	RGD		mRNA:increased expression:microglial cell	PMID:29039449|REF_RGD_ID:597538462
8784137	Tlr2	toll like receptor 2	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:735138	D	RGD:9068941	20250130	RGD			PMID:20859668|PMID:24723245|REF_RGD_ID:597538520|REF_RGD_ID:597538540
8784137	Tlr2	toll like receptor 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:20610040|REF_RGD_ID:4144177
8784137	Tlr2	toll like receptor 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD		associated with Pneumonia	PMID:19109203|REF_RGD_ID:4145324
8784137	Tlr2	toll like receptor 2	gene	DOID:399	tuberculosis		ISO	RGD:1353654	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to	PMID:25741868
8784137	Tlr2	toll like receptor 2	gene	DOID:399	tuberculosis	susceptibility	ISO	RGD:1353654	D	RGD:7240710	20190502	OMIM			
8784137	Tlr2	toll like receptor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1353654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8784137	Tlr2	toll like receptor 2	gene	DOID:4481	allergic rhinitis		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:nasal mucosa:	PMID:18219831|REF_RGD_ID:7800742
8784137	Tlr2	toll like receptor 2	gene	DOID:4481	allergic rhinitis		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		protein:increased expression:neutrophil:	PMID:22555057|REF_RGD_ID:8552993
8784137	Tlr2	toll like receptor 2	gene	DOID:4481	allergic rhinitis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:18381801|REF_RGD_ID:8552972
8784137	Tlr2	toll like receptor 2	gene	DOID:4481	allergic rhinitis	severity	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.R753Q(human)	PMID:22402138|REF_RGD_ID:7800732
8784137	Tlr2	toll like receptor 2	gene	DOID:4483	rhinitis		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:nasal mucosa:	PMID:18219831|REF_RGD_ID:7800742
8784137	Tlr2	toll like receptor 2	gene	DOID:4483	rhinitis	no_association	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		associated with Sinusitis;DNA:SNPs: :multiple (human)	PMID:19128592|REF_RGD_ID:4145356
8784137	Tlr2	toll like receptor 2	gene	DOID:4483	rhinitis	susceptibility	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:SNPs: :597T>C, 1350T>C (human)	PMID:19763595|REF_RGD_ID:4145354
8784137	Tlr2	toll like receptor 2	gene	DOID:4677	keratitis		ISO	RGD:1353654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23661603
8784137	Tlr2	toll like receptor 2	gene	DOID:4677	keratitis		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		associated with Eye Infections, Fungal;mRNA,protein:increased expression:cornea:	PMID:18398706|REF_RGD_ID:8552914
8784137	Tlr2	toll like receptor 2	gene	DOID:4677	keratitis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD		associated with Onchocerciasis, Ocular;	PMID:17875630|REF_RGD_ID:7794840
8784137	Tlr2	toll like receptor 2	gene	DOID:4677	keratitis	treatment	ISO	RGD:735138	D	RGD:9068941	20200609	RGD		associated with Aspergillosis:	PMID:21647173|REF_RGD_ID:8552816
8784137	Tlr2	toll like receptor 2	gene	DOID:4692	endophthalmitis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:19995266|PMID:22163046|REF_RGD_ID:8552880|REF_RGD_ID:8553060
8784137	Tlr2	toll like receptor 2	gene	DOID:4989	pancreatitis		ISO	RGD:735138	D	RGD:9068941	20200609	RGD			PMID:19260515|REF_RGD_ID:2312507
8784137	Tlr2	toll like receptor 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:24815695|REF_RGD_ID:15090811
8784137	Tlr2	toll like receptor 2	gene	DOID:552	pneumonia	susceptibility	ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:19011150|REF_RGD_ID:4145330
8784137	Tlr2	toll like receptor 2	gene	DOID:5614	eye disease		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:nasal cavity mucosa:	PMID:16146574|REF_RGD_ID:8552913
8784137	Tlr2	toll like receptor 2	gene	DOID:580	uric acid nephrolithiasis		ISO	RGD:735138	D	RGD:9068941	20250130	RGD		protein:increased expression:kidney	PMID:25046957|REF_RGD_ID:597538538
8784137	Tlr2	toll like receptor 2	gene	DOID:6000	congestive heart failure		ISO	RGD:1353654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29959987
8784137	Tlr2	toll like receptor 2	gene	DOID:6543	acne		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:skin:	PMID:18241264|REF_RGD_ID:8553025
8784137	Tlr2	toll like receptor 2	gene	DOID:6543	acne	severity	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD			PMID:20726329|REF_RGD_ID:8553024
8784137	Tlr2	toll like receptor 2	gene	DOID:6543	acne	susceptibility	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.R753Q(human)	PMID:20861605|REF_RGD_ID:8553023
8784137	Tlr2	toll like receptor 2	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:deletion:promoter:-196 to -174(human)	PMID:27183918|REF_RGD_ID:15090815
8784137	Tlr2	toll like receptor 2	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic;DNA:deletion:promoter:-196 to -174(human)	PMID:21500195|REF_RGD_ID:15090813
8784137	Tlr2	toll like receptor 2	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:22859216|REF_RGD_ID:18337266
8784137	Tlr2	toll like receptor 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1353654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19192274
8784137	Tlr2	toll like receptor 2	gene	DOID:783	end stage renal disease		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD			PMID:20729266|REF_RGD_ID:7240546
8784137	Tlr2	toll like receptor 2	gene	DOID:7894	mite infestation		ISO	RGD:1353654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29253318
8784137	Tlr2	toll like receptor 2	gene	DOID:809	cocaine abuse		ISO	RGD:1551003	D	RGD:9068941	20250123	RGD		protein:increased expression:striatum, microglial cell	PMID:26860188|REF_RGD_ID:597538483
8784137	Tlr2	toll like receptor 2	gene	DOID:8283	peritonitis		ISO	RGD:1353654	D	RGD:9068941	20250123	RGD		associated with alcoholic liver cirrhosis	PMID:26493630|REF_RGD_ID:11556962
8784137	Tlr2	toll like receptor 2	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:1551003	D	RGD:9068941	20260115	RGD		protein:increased expression:lung	PMID:25834936|REF_RGD_ID:630350560
8784137	Tlr2	toll like receptor 2	gene	DOID:850	lung disease		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		associated with Mycobacterium avium-intracellulare Infection;DNA:polymorphism:intron (human)	PMID:18602432|REF_RGD_ID:4145340
8784137	Tlr2	toll like receptor 2	gene	DOID:850	lung disease		ISO	RGD:735138	D	RGD:9068941	20200609	RGD		Acute Lung Injury;mRNA:increased expression:lung	PMID:20441697|REF_RGD_ID:4145303
8784137	Tlr2	toll like receptor 2	gene	DOID:850	lung disease		ISO	RGD:735138	D	RGD:9068941	20200609	RGD		associated with Hyperoxia;mRNA, protein:increased expression:lung	PMID:19956717|REF_RGD_ID:4145321
8784137	Tlr2	toll like receptor 2	gene	DOID:850	lung disease		ISO	RGD:735138	D	RGD:9068941	20200609	RGD		associated with Pancreatitis, Acute Necrotizing	PMID:16286274|REF_RGD_ID:2312725
8784137	Tlr2	toll like receptor 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		protein:decreased expression:sputum, macrophage	PMID:21426732|REF_RGD_ID:7240539
8784137	Tlr2	toll like receptor 2	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:735138	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ileum	PMID:19608731|REF_RGD_ID:5128779
8784137	Tlr2	toll like receptor 2	gene	DOID:869	cholesteatoma		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:mucosa:	PMID:22883581|REF_RGD_ID:7800662
8784137	Tlr2	toll like receptor 2	gene	DOID:874	bacterial pneumonia		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:18768871|REF_RGD_ID:4145337
8784137	Tlr2	toll like receptor 2	gene	DOID:874	bacterial pneumonia		ISO	RGD:735138	D	RGD:9068941	20200609	RGD			PMID:19844782|REF_RGD_ID:4889533
8784137	Tlr2	toll like receptor 2	gene	DOID:8741	seborrheic dermatitis	treatment	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD			PMID:21566548|REF_RGD_ID:8553045
8784137	Tlr2	toll like receptor 2	gene	DOID:8867	molluscum contagiosum		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		protein:increased expression,altered expression:cytoplasm,membrane, nucleus:	PMID:24617037|REF_RGD_ID:8553046
8784137	Tlr2	toll like receptor 2	gene	DOID:8893	psoriasis		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mononuclear cell:	PMID:23457721|REF_RGD_ID:7777173
8784137	Tlr2	toll like receptor 2	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:735138	D	RGD:9068941	20250125	RGD			PMID:24966901|REF_RGD_ID:597538512
8784137	Tlr2	toll like receptor 2	gene	DOID:9000113	Pneumococcal Meningitis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD		mRNA:increased expression: :	PMID:12781911|REF_RGD_ID:7794740
8784137	Tlr2	toll like receptor 2	gene	DOID:9000146	Plaque, Atherosclerotic		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		associated with Plaque,Atherosclerotic;mRNA:increased expression:mononuclear cell:	PMID:23457721|REF_RGD_ID:7777173
8784137	Tlr2	toll like receptor 2	gene	DOID:9000471	Vibrio Vulnificus Infection	treatment	ISO	RGD:735138	D	RGD:9068941	20250123	RGD		associated with Alcoholic Liver Diseases	PMID:19781370|REF_RGD_ID:597538490
8784137	Tlr2	toll like receptor 2	gene	DOID:9000641	Pain		ISO	RGD:735138	D	RGD:9068941	20200609	RGD			PMID:24204973|REF_RGD_ID:8553185
8784137	Tlr2	toll like receptor 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1353654	D	RGD:9068941	20250130	RGD		mRNA:increased expression:peripheral blood mononuclear cell	PMID:26497845|REF_RGD_ID:11536351
8784137	Tlr2	toll like receptor 2	gene	DOID:9000889	Escherichia Coli Meningitis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD		mRNA:increased expression: :	PMID:12781911|REF_RGD_ID:7794740
8784137	Tlr2	toll like receptor 2	gene	DOID:9000945	Ventilator-Induced Lung Injury	treatment	ISO	RGD:735138	D	RGD:9068941	20250130	RGD			PMID:25476077|REF_RGD_ID:597538526
8784137	Tlr2	toll like receptor 2	gene	DOID:9000955	Acute Otitis Media		ISO	RGD:1353654	D	RGD:9068941	20260108	RGD		DNA:SNP:cds:p.R753Q (rs5743708)	PMID:28403045|REF_RGD_ID:629146884
8784137	Tlr2	toll like receptor 2	gene	DOID:9000972	Fever		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:22042912|REF_RGD_ID:7241096
8784137	Tlr2	toll like receptor 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:1353654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21549006
8784137	Tlr2	toll like receptor 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:735138	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:18316784|REF_RGD_ID:2312713
8784137	Tlr2	toll like receptor 2	gene	DOID:9001004	Chronic Periodontitis	severity	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		protein:increased expression:gingiva:	PMID:21848608|REF_RGD_ID:7794852
8784137	Tlr2	toll like receptor 2	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD		associated with Chlamydophila Infections;	PMID:20393111|REF_RGD_ID:8552825
8784137	Tlr2	toll like receptor 2	gene	DOID:9001371	Eosinophilia		ISO	RGD:1353654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26882889
8784137	Tlr2	toll like receptor 2	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis;mRNA:increased expression:inferior nasal concha:	PMID:15836755|REF_RGD_ID:8552992
8784137	Tlr2	toll like receptor 2	gene	DOID:9001488	Human Influenza		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		protein:increased expression:monocyte	PMID:18657324|REF_RGD_ID:4145339
8784137	Tlr2	toll like receptor 2	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:27601294|REF_RGD_ID:18182936
8784137	Tlr2	toll like receptor 2	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:735138	D	RGD:9068941	20200609	RGD			PMID:22683883|REF_RGD_ID:7241092
8784137	Tlr2	toll like receptor 2	gene	DOID:9001949	Fungal Eye Infections		ISO	RGD:735138	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cornea	PMID:19474209|REF_RGD_ID:2312502
8784137	Tlr2	toll like receptor 2	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:19956717|REF_RGD_ID:4145321
8784137	Tlr2	toll like receptor 2	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:735138	D	RGD:9068941	20250130	RGD		protein:increased expression:liver	PMID:25780291|REF_RGD_ID:597538537
8784137	Tlr2	toll like receptor 2	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:16038046|REF_RGD_ID:15090805
8784137	Tlr2	toll like receptor 2	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:735138	D	RGD:9068941	20200609	RGD			PMID:25769561|REF_RGD_ID:15090809
8784137	Tlr2	toll like receptor 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21617141|REF_RGD_ID:7241083
8784137	Tlr2	toll like receptor 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:735138	D	RGD:9068941	20250130	RGD		mRNA, protein:increased expression:kidney	PMID:20628242|REF_RGD_ID:7240550
8784137	Tlr2	toll like receptor 2	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:735138	D	RGD:9068941	20250130	RGD			PMID:24739281|REF_RGD_ID:597538539
8784137	Tlr2	toll like receptor 2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:17355971|REF_RGD_ID:8553059
8784137	Tlr2	toll like receptor 2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:735138	D	RGD:9068941	20200609	RGD			PMID:24204973|REF_RGD_ID:8553185
8784137	Tlr2	toll like receptor 2	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:1353654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29959987
8784137	Tlr2	toll like receptor 2	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:20131263|REF_RGD_ID:8552884
8784137	Tlr2	toll like receptor 2	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:735138	D	RGD:9068941	20200609	RGD			PMID:21725847|REF_RGD_ID:7241099
8784137	Tlr2	toll like receptor 2	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:735138	D	RGD:9068941	20250130	RGD			PMID:30841475|PMID:32186105|PMID:32945496|REF_RGD_ID:597538503|REF_RGD_ID:597538518|REF_RGD_ID:597538522
8784137	Tlr2	toll like receptor 2	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:18003835|REF_RGD_ID:2312723
8784137	Tlr2	toll like receptor 2	gene	DOID:9002735	alcohol withdrawal syndrome		ISO	RGD:1353654	D	RGD:9068941	20250123	RGD		mRNA:increased expression:blood, monocyte	PMID:37058088|REF_RGD_ID:597538488
8784137	Tlr2	toll like receptor 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:735138	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:18644848|REF_RGD_ID:2312575
8784137	Tlr2	toll like receptor 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:735138	D	RGD:9068941	20250125	RGD			PMID:33358978|REF_RGD_ID:597538508
8784137	Tlr2	toll like receptor 2	gene	DOID:9002823	Gram-Positive Bacterial Infections		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:18354210|REF_RGD_ID:7240560
8784137	Tlr2	toll like receptor 2	gene	DOID:9003036	Oral Lichen Planus		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		protein:increased expression:monocyte,buccal mucosa:	PMID:21544941|REF_RGD_ID:8553047
8784137	Tlr2	toll like receptor 2	gene	DOID:9003139	Cardiac Fibrosis	treatment	ISO	RGD:735138	D	RGD:9068941	20250125	RGD			PMID:30877771|REF_RGD_ID:597538506
8784137	Tlr2	toll like receptor 2	gene	DOID:9003223	Corneal Graft Rejection	treatment	ISO	RGD:735138	D	RGD:9068941	20250130	RGD			PMID:21918429|REF_RGD_ID:597538536
8784137	Tlr2	toll like receptor 2	gene	DOID:9003321	Bacterial Keratitis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD		associated with Pneumococcal Infections;	PMID:23841825|REF_RGD_ID:8552886
8784137	Tlr2	toll like receptor 2	gene	DOID:9003321	Bacterial Keratitis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD		associated with Staphylococcal Infections;	PMID:16926427|REF_RGD_ID:8552819
8784137	Tlr2	toll like receptor 2	gene	DOID:9003370	Dyslipidemias		ISO	RGD:2138	D	RGD:9068941	20200609	RGD			PMID:23295061|REF_RGD_ID:7241091
8784137	Tlr2	toll like receptor 2	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:28139935|REF_RGD_ID:15090829
8784137	Tlr2	toll like receptor 2	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:735138	D	RGD:9068941	20250206	RGD		mRNA, protein:increased expression:brain	PMID:26475712|REF_RGD_ID:11353246
8784137	Tlr2	toll like receptor 2	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:735138	D	RGD:9068941	20250206	RGD		protein:increased expression:hippocampus	PMID:25530127|REF_RGD_ID:11096611
8784137	Tlr2	toll like receptor 2	gene	DOID:9003819	Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:21190299|REF_RGD_ID:7240543
8784137	Tlr2	toll like receptor 2	gene	DOID:9003870	Herpes Simplex Encephalitis		ISO	RGD:735138	D	RGD:9068941	20200609	RGD			PMID:20806060|REF_RGD_ID:5130178
8784137	Tlr2	toll like receptor 2	gene	DOID:9003870	Herpes Simplex Encephalitis	disease_progression	ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:14739339|REF_RGD_ID:8553026
8784137	Tlr2	toll like receptor 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1353654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25780291
8784137	Tlr2	toll like receptor 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:735138	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney	PMID:15912106|REF_RGD_ID:2312727
8784137	Tlr2	toll like receptor 2	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		kidney	PMID:20628182|REF_RGD_ID:7240551
8784137	Tlr2	toll like receptor 2	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		liver;DNA:SNP: :p.R753Q (human)	PMID:20090572|REF_RGD_ID:7240554
8784137	Tlr2	toll like receptor 2	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:20038715|PMID:22042224|REF_RGD_ID:7207901|REF_RGD_ID:7240555
8784137	Tlr2	toll like receptor 2	gene	DOID:9004283	Transplant Rejection		ISO	RGD:735138	D	RGD:9068941	20200609	RGD		kidney	PMID:20628182|REF_RGD_ID:7240551
8784137	Tlr2	toll like receptor 2	gene	DOID:9004354	Alcohol-Related Disorders	treatment	ISO	RGD:1551003	D	RGD:9068941	20250123	RGD			PMID:26226164|REF_RGD_ID:597538484
8784137	Tlr2	toll like receptor 2	gene	DOID:9004484	Sepsis		ISO	RGD:735138	D	RGD:9068941	20200609	RGD			PMID:14604479|REF_RGD_ID:2312732
8784137	Tlr2	toll like receptor 2	gene	DOID:9004484	Sepsis		ISO	RGD:735138	D	RGD:9068941	20200609	RGD		associated with Burns;mRNA:increased expression:liver, lung, kidney	PMID:12831613|REF_RGD_ID:1302750
8784137	Tlr2	toll like receptor 2	gene	DOID:9004484	Sepsis		ISO	RGD:735138	D	RGD:9068941	20200609	RGD		associated with Liver Diseases;mRNA:increased expression:liver	PMID:19489280|REF_RGD_ID:2312497
8784137	Tlr2	toll like receptor 2	gene	DOID:9004538	Hearing Loss	susceptibility	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		associated with Meningitis,Bacterial; DNA:haplotype: :2477G>A(rs5743708)(human)	PMID:22662111|REF_RGD_ID:7800663
8784137	Tlr2	toll like receptor 2	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:735138	D	RGD:9068941	20250130	RGD			PMID:23428646|PMID:25224460|PMID:25399897|PMID:27959396|PMID:34335089|REF_RGD_ID:597538510|REF_RGD_ID:597538513|REF_RGD_ID:597538514|REF_RGD_ID:597538524|REF_RGD_ID:597538525
8784137	Tlr2	toll like receptor 2	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:735138	D	RGD:9068941	20250206	RGD		associated with Endotoxemia	PMID:22982561|REF_RGD_ID:7204498
8784137	Tlr2	toll like receptor 2	gene	DOID:9005372	Inflammation		ISO	RGD:1353654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22178603
8784137	Tlr2	toll like receptor 2	gene	DOID:9005372	Inflammation		ISO	RGD:1353654	D	RGD:9068941	20250123	RGD		mRNA: increased expression:amnion. choriodecidua	PMID:25048443|REF_RGD_ID:597538464
8784137	Tlr2	toll like receptor 2	gene	DOID:9005372	Inflammation		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD		associated with Respiratory Hypersensitivity	PMID:20016195|REF_RGD_ID:4889537
8784137	Tlr2	toll like receptor 2	gene	DOID:9005372	Inflammation		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD		associated with Ureteral Obstruction	PMID:19479087|REF_RGD_ID:7240558
8784137	Tlr2	toll like receptor 2	gene	DOID:9005372	Inflammation		ISO	RGD:735138	D	RGD:9068941	20200609	RGD			PMID:16154916|REF_RGD_ID:4889539
8784137	Tlr2	toll like receptor 2	gene	DOID:9005473	Bacterial Eye Infections		ISO	RGD:1353654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23661603
8784137	Tlr2	toll like receptor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:17707128|REF_RGD_ID:2312684
8784137	Tlr2	toll like receptor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:735138	D	RGD:9068941	20200609	RGD			PMID:16740310|REF_RGD_ID:2312491
8784137	Tlr2	toll like receptor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:735138	D	RGD:9068941	20250130	RGD		mRNA:increased expression:gingiva	PMID:24878329|REF_RGD_ID:597538517
8784137	Tlr2	toll like receptor 2	gene	DOID:9005930	Endotoxemia		ISO	RGD:1353654	D	RGD:9068941	20250123	RGD		associated with liver cirrhosis	PMID:12610323|REF_RGD_ID:597538466
8784137	Tlr2	toll like receptor 2	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:735138	D	RGD:9068941	20200609	RGD			PMID:22172266|REF_RGD_ID:7241094
8784137	Tlr2	toll like receptor 2	gene	DOID:9005941	Rhinosinusitis		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:paranasal sinus	PMID:22182736|REF_RGD_ID:7800733
8784137	Tlr2	toll like receptor 2	gene	DOID:9005941	Rhinosinusitis	susceptibility	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:: rs3804099,rs3804100(human)	PMID:21493395|REF_RGD_ID:8552975
8784137	Tlr2	toll like receptor 2	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:11801667|PMID:20130923|REF_RGD_ID:7240552|REF_RGD_ID:7241087
8784137	Tlr2	toll like receptor 2	gene	DOID:9006223	Kidney Reperfusion Injury	severity	ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:22750071|REF_RGD_ID:7207896
8784137	Tlr2	toll like receptor 2	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:23023072|REF_RGD_ID:7207894
8784137	Tlr2	toll like receptor 2	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:735138	D	RGD:9068941	20200609	RGD			PMID:23239000|REF_RGD_ID:7207892
8784137	Tlr2	toll like receptor 2	gene	DOID:9006302	Binge Drinking		ISO	RGD:1551003	D	RGD:9068941	20250123	RGD		mRNA, protein:increased expression:brain	PMID:23206318|REF_RGD_ID:7175526
8784137	Tlr2	toll like receptor 2	gene	DOID:9006302	Binge Drinking	sexual_dimorphism	ISO	RGD:1551003	D	RGD:9068941	20250125	RGD		mRNA:increased expression:adipose tissue	PMID:27711160|REF_RGD_ID:407424601
8784137	Tlr2	toll like receptor 2	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:735138	D	RGD:9068941	20250123	RGD			PMID:28684969|PMID:32300366|REF_RGD_ID:597538486|REF_RGD_ID:597538492
8784137	Tlr2	toll like receptor 2	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1353654	D	RGD:9068941	20250130	RGD		mRNA:increased expression:peripheral blood mononuclear cell	PMID:26497845|REF_RGD_ID:11536351
8784137	Tlr2	toll like receptor 2	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:735138	D	RGD:9068941	20250125	RGD			PMID:32151955|REF_RGD_ID:597538509
8784137	Tlr2	toll like receptor 2	gene	DOID:9006647	Experimental Autoimmune Neuritis	severity	ISO	RGD:735138	D	RGD:9068941	20200609	RGD			PMID:19162137|REF_RGD_ID:2312712
8784137	Tlr2	toll like receptor 2	gene	DOID:9006771	Chronic Rhinosinusitis		ISO	RGD:1353654	D	RGD:9068941	20260115	RGD		mRNA, protein:increased expression:nasal cavity mucosa	PMID:26518209|REF_RGD_ID:630350565
8784137	Tlr2	toll like receptor 2	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1353654	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:18466103|PMID:31557154
8784137	Tlr2	toll like receptor 2	gene	DOID:9006844	Streptococcal Infections	severity	ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:19179417|REF_RGD_ID:7240559
8784137	Tlr2	toll like receptor 2	gene	DOID:9006966	Pseudomonas Aeruginosa Keratitis		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:cornea:	PMID:20012880|REF_RGD_ID:8552969
8784137	Tlr2	toll like receptor 2	gene	DOID:9007073	Cough		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		protein:decreased expression:sputum, macrophage	PMID:21426732|REF_RGD_ID:7240539
8784137	Tlr2	toll like receptor 2	gene	DOID:9007389	Acute Tubulointerstitial Nephritis		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:22194975|REF_RGD_ID:7207900
8784137	Tlr2	toll like receptor 2	gene	DOID:9007730	Burns		ISO	RGD:1551003	D	RGD:9068941	20250123	RGD		associated with Alcoholic Intoxication;protein:decreased expressio:mesenteric lymph node, spleen, T cell	PMID:22634720|REF_RGD_ID:597538482
8784137	Tlr2	toll like receptor 2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:735138	D	RGD:9068941	20200609	RGD			PMID:19274437|REF_RGD_ID:2312688
8784137	Tlr2	toll like receptor 2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:735138	D	RGD:9068941	20250206	RGD		protein:increased expression:serum	PMID:32626996|REF_RGD_ID:597621676
8784137	Tlr2	toll like receptor 2	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:735138	D	RGD:9068941	20250206	RGD			PMID:22402367|PMID:32377693|REF_RGD_ID:597538502|REF_RGD_ID:597621678
8784137	Tlr2	toll like receptor 2	gene	DOID:9008091	Optic Nerve Injuries	treatment	ISO	RGD:735138	D	RGD:9068941	20250130	RGD			PMID:19661221|REF_RGD_ID:597538516
8784137	Tlr2	toll like receptor 2	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:28414577|REF_RGD_ID:15090812
8784137	Tlr2	toll like receptor 2	gene	DOID:9008163	Chronic Hepatitis B	disease_progression	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD			PMID:25337250|REF_RGD_ID:15090826
8784137	Tlr2	toll like receptor 2	gene	DOID:9008163	Chronic Hepatitis B	treatment	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD			PMID:25771704|REF_RGD_ID:15090828
8784137	Tlr2	toll like receptor 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1353654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16879199|PMID:17892325
8784137	Tlr2	toll like receptor 2	gene	DOID:9008520	Chronic Pain		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD			PMID:24204973|REF_RGD_ID:8553185
8784137	Tlr2	toll like receptor 2	gene	DOID:9008595	Brain Abscess		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:16239543|REF_RGD_ID:8552881
8784137	Tlr2	toll like receptor 2	gene	DOID:9008821	Otitis Media with Effusion		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:22336013|REF_RGD_ID:7364764
8784137	Tlr2	toll like receptor 2	gene	DOID:9008885	Staphylococcal Infections		ISO	RGD:1353654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23661603
8784137	Tlr2	toll like receptor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8784137	Tlr2	toll like receptor 2	gene	DOID:9009407	rhinovirus infections	severity	ISO	RGD:1353654	D	RGD:9068941	20260115	RGD		associated with cystic fibrosis, or cystic fibrosis and Staphylococcal Infections, or cystic fibrosis and Pseudomonas Infections, or cystic fibrosis and Staphylococcal Infections and Pseudomonas Infections;mRNA: increased expression:sputum	PMID:32712204|REF_RGD_ID:630350557
8784137	Tlr2	toll like receptor 2	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		protein:decreased expression:skin:	PMID:20493664|REF_RGD_ID:7794748
8784137	Tlr2	toll like receptor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8784137	Tlr2	toll like receptor 2	gene	DOID:9146	visceral leishmaniasis	disease_progression	ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:23589575|REF_RGD_ID:15090808
8784137	Tlr2	toll like receptor 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1353654	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:25741868|PMID:28492532
8784137	Tlr2	toll like receptor 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1353654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
8784137	Tlr2	toll like receptor 2	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1353654	D	RGD:7240710	20230505	OMIM			
8784137	Tlr2	toll like receptor 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735138	D	RGD:9068941	20250130	RGD		mRNA:increased expression:gingiva	PMID:24878329|REF_RGD_ID:597538517
8784137	Tlr2	toll like receptor 2	gene	DOID:9368	keratoconjunctivitis		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		protein:increased expression:conjnctival epithelium:	PMID:15875531|REF_RGD_ID:8552813
8784137	Tlr2	toll like receptor 2	gene	DOID:9446	cholangitis	disease_progression	ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:30340822|REF_RGD_ID:15090860
8784137	Tlr2	toll like receptor 2	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:1551003	D	RGD:9068941	20250125	RGD		associated with steatotic liver disease	PMID:31509430|REF_RGD_ID:597538496
8784137	Tlr2	toll like receptor 2	gene	DOID:9675	pulmonary emphysema		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD		protein:increased expression:alveolar macrophage	PMID:18399852|REF_RGD_ID:4145342
8784137	Tlr2	toll like receptor 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:SNP: :1350T>C (human)	PMID:15699513|REF_RGD_ID:2312686
8784137	Tlr2	toll like receptor 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs3804100 (human)	PMID:19148143|REF_RGD_ID:2312679
8784137	Tlr2	toll like receptor 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		protein:increased expression:monocyte	PMID:18029454|REF_RGD_ID:2312683
8784137	Tlr2	toll like receptor 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:17707128|REF_RGD_ID:2312684
8784137	Tlr2	toll like receptor 2	gene	DOID:9744	type 1 diabetes mellitus	no_association	ISO	RGD:1353654	D	RGD:9068941	20200609	RGD		DNA:SNP: :1350T>C (human)	PMID:17130564|REF_RGD_ID:2312687
8784137	Tlr2	toll like receptor 2	gene	DOID:9970	obesity		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:18787058|REF_RGD_ID:2312681
8784137	Tlr2	toll-like receptor 2	gene	DOID:11446	sciatic neuropathy		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD			PMID:21125644|REF_RGD_ID:8553062
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:0051061	stroke		ISO	RGD:3281	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood, leukocyte	PMID:17922411|REF_RGD_ID:2313907
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:0051061	stroke		ISO	RGD:736102	D	RGD:9068941	20200609	RGD			PMID:14517540|PMID:16675738|PMID:16825591|PMID:16914755|REF_RGD_ID:1581003|REF_RGD_ID:1581004|REF_RGD_ID:1581005|REF_RGD_ID:1581007
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:10485	esophageal atresia		ISO	RGD:736102	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:1324	lung cancer		ISO	RGD:736102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:14669	acrodysostosis		ISO	RGD:736102	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:1596	depressive disorder		ISO	RGD:3281	D	RGD:9068941	20200609	RGD			PMID:22487514|REF_RGD_ID:7327149
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:1909	melanoma		ISO	RGD:736102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3281	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus CA1	PMID:22860212|REF_RGD_ID:7327148
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3281	D	RGD:9068941	20260730	RGD		mRNA:altered expression:brain	PMID:33519668|REF_RGD_ID:736802359
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:2841	asthma		ISO	RGD:736102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19426955|PMID:21611147
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:2841	asthma	susceptibility	ISO	RGD:736102	D	RGD:9068941	20260129	RGD		DNA:SNPs: :multiple	PMID:19426955|REF_RGD_ID:631734384
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:3070	high grade glioma		ISO	RGD:736102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:736102	D	RGD:9068941	20260129	RGD		DNA:SNPs, haplotype:exon: rs829260, rs10075508	PMID:17016624|REF_RGD_ID:631734385
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:3275	thymoma		ISO	RGD:736102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:5041	esophageal cancer		ISO	RGD:736102	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:630	genetic disease		ISO	RGD:736102	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:670	amphetamine abuse		ISO	RGD:736102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736102	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:3281	D	RGD:9068941	20240919	RGD			PMID:24970286|REF_RGD_ID:407550181
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:9000998	Brain Injuries		ISO	RGD:3281	D	RGD:9068941	20200609	RGD		mRNA, protein:alternative form, decreased phosphorylation:brain	PMID:23057870|REF_RGD_ID:7327147
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:9001472	Nasal Polyps		ISO	RGD:736102	D	RGD:9068941	20251030	RGD		DNA:SNP: :rs1588265	PMID:24142618|REF_RGD_ID:629006444
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16740699|PMID:29662167
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:9002333	Metaphyseal Acroscyphodysplasia		ISO	RGD:736102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metaphyseal acroscyphodysplasia	PMID:24203977|PMID:25741868|PMID:26763073|PMID:30006632
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:9002649	Acrodysostosis 2, with or without Hormone Resistance		ISO	RGD:736102	D	RGD:7240710	20180130	OMIM			
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:9002649	Acrodysostosis 2, with or without Hormone Resistance		ISO	RGD:736102	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance | ClinVar Annotator: match by term: Acrodysostosis 2, with or without hormone resistance | ClinVar Annotator: match by term: PDE4D-related condition	PMID:15025561|PMID:22464250|PMID:22464252|PMID:23033274|PMID:24203977|PMID:25044890|PMID:25064455|PMID:25741868|PMID:26633542|PMID:28492532|PMID:30006632|PMID:33858404|PMID:38983619|PMID:40917827
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:9005149	Ovary Reperfusion Injury	treatment	ISO	RGD:3281	D	RGD:9068941	20260718	RGD			PMID:38453769|REF_RGD_ID:736797808
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8784150	Pde4d	phosphodiesterase 4D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8784197	Kctd6	potassium channel tetramerization domain containing 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8784210	Cmtr2	cap methyltransferase 2	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1601859	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
8784210	Cmtr2	cap methyltransferase 2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1601859	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8784210	Cmtr2	cap methyltransferase 2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1601859	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27158780
8784227	Klhl28	kelch like family member 28	gene	DOID:1324	lung cancer		ISO	RGD:1322718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8784227	Klhl28	kelch like family member 28	gene	DOID:1909	melanoma		ISO	RGD:1322718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8784227	Klhl28	kelch like family member 28	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8784227	Klhl28	kelch like family member 28	gene	DOID:4362	cervical cancer		ISO	RGD:1322718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8784227	Klhl28	kelch like family member 28	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8784227	Klhl28	kelch like family member 28	gene	DOID:5041	esophageal cancer		ISO	RGD:1322718	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8784227	Klhl28	kelch like family member 28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784227	Klhl28	kelch like family member 28	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8784244	LOC102009660	protein HIRA	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8784244	LOC102009660	protein HIRA	gene	DOID:0111081	Fanconi anemia complementation group T		ISO	RGD:1346310	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Fanconi anemia, complementation group T	PMID:25741868
8784244	LOC102009660	protein HIRA	gene	DOID:10283	prostate cancer		ISO	RGD:1346310	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8784244	LOC102009660	protein HIRA	gene	DOID:10283	prostate cancer		ISO	RGD:1346310	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8784244	LOC102009660	protein HIRA	gene	DOID:10534	stomach cancer		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8784244	LOC102009660	protein HIRA	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8784244	LOC102009660	protein HIRA	gene	DOID:1115	sarcoma		ISO	RGD:1346310	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8784244	LOC102009660	protein HIRA	gene	DOID:1324	lung cancer		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
8784244	LOC102009660	protein HIRA	gene	DOID:3070	high grade glioma		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8784244	LOC102009660	protein HIRA	gene	DOID:3275	thymoma		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8784244	LOC102009660	protein HIRA	gene	DOID:4362	cervical cancer		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8784244	LOC102009660	protein HIRA	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8784244	LOC102009660	protein HIRA	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8784244	LOC102009660	protein HIRA	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346310	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8784244	LOC102009660	protein HIRA	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8784244	LOC102009660	protein HIRA	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868|PMID:32075733|PMID:33417013|PMID:34074949
8784244	LOC102009660	protein HIRA	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
8784244	LOC102009660	protein HIRA	gene	DOID:9003139	Cardiac Fibrosis	disease_progression	ISO	RGD:1556958	D	RGD:9068941	20231102	RGD			PMID:26935106|REF_RGD_ID:11354650
8784244	LOC102009660	protein HIRA	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25363760|PMID:25741868|PMID:33417013|PMID:38511226
8784244	LOC102009660	protein HIRA	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8784244	LOC102009660	protein HIRA	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8784244	LOC102009660	protein HIRA	gene	DOID:9256	colorectal cancer		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8784277	Smyd3	SET and MYND domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8784277	Smyd3	SET and MYND domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8784277	Smyd3	SET and MYND domain containing 3	gene	DOID:0050998	nonprogressive cerebellar ataxia with mental retardation		ISO	RGD:1348508	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities	PMID:25741868
8784277	Smyd3	SET and MYND domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8784277	Smyd3	SET and MYND domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8784277	Smyd3	SET and MYND domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8784277	Smyd3	SET and MYND domain containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8784277	Smyd3	SET and MYND domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8784277	Smyd3	SET and MYND domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8784277	Smyd3	SET and MYND domain containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348508	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8784277	Smyd3	SET and MYND domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784277	Smyd3	SET and MYND domain containing 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8784277	Smyd3	SET and MYND domain containing 3	gene	DOID:670	amphetamine abuse		ISO	RGD:1348508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
8784277	Smyd3	SET and MYND domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8784277	Smyd3	SET and MYND domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8784301	Prelp	proline and arginine rich end leucine rich repeat protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8784301	Prelp	proline and arginine rich end leucine rich repeat protein	gene	DOID:0080010	bone structure disease		ISO	RGD:732559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of bone mineral density	PMID:25741868
8784301	Prelp	proline and arginine rich end leucine rich repeat protein	gene	DOID:13533	osteopetrosis		ISO	RGD:732559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopetrosis	PMID:25741868
8784301	Prelp	proline and arginine rich end leucine rich repeat protein	gene	DOID:13543	hyperparathyroidism		ISO	RGD:732559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperparathyroidism	PMID:25741868
8784301	Prelp	proline and arginine rich end leucine rich repeat protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8784301	Prelp	proline and arginine rich end leucine rich repeat protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784301	Prelp	proline and arginine rich end leucine rich repeat protein	gene	DOID:9000197	Edema		ISO	RGD:732559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema	PMID:25741868
8784301	Prelp	proline and arginine rich end leucine rich repeat protein	gene	DOID:9004538	Hearing Loss		ISO	RGD:732559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8784301	Prelp	proline and arginine rich end leucine rich repeat protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8784308	Dll3	delta like canonical Notch ligand 3	gene	DOID:0060249	scoliosis		ISO	RGD:735462	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17849441
8784308	Dll3	delta like canonical Notch ligand 3	gene	DOID:0112365	spondylocostal dysostosis 1		ISO	RGD:735462	D	RGD:7240710	20180704	OMIM			
8784308	Dll3	delta like canonical Notch ligand 3	gene	DOID:0112365	spondylocostal dysostosis 1		ISO	RGD:735462	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DLL3-related condition | ClinVar Annotator: match by term: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive | ClinVar Annotator: match by term: spondylocostal dysostosis 1, autosomal recessive	PMID:10742114|PMID:12746394|PMID:12791036|PMID:15200511|PMID:17041936|PMID:25741868|PMID:28492532
8784308	Dll3	delta like canonical Notch ligand 3	gene	DOID:11193	syndactyly		ISO	RGD:735462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-syndromic syndactyly	PMID:15717203|PMID:18485326|PMID:25741868|PMID:28492532|PMID:29459493
8784308	Dll3	delta like canonical Notch ligand 3	gene	DOID:1909	melanoma		ISO	RGD:735462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8784308	Dll3	delta like canonical Notch ligand 3	gene	DOID:1934	dysostosis		ISO	RGD:735462	D	RGD:9068941	20200609	RGD		DNA:nonsense mutations, missense mutation	PMID:10742114|REF_RGD_ID:1599775
8784308	Dll3	delta like canonical Notch ligand 3	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:735462	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11146471
8784308	Dll3	delta like canonical Notch ligand 3	gene	DOID:3069	malignant astrocytoma		ISO	RGD:735462	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21127729
8784308	Dll3	delta like canonical Notch ligand 3	gene	DOID:4362	cervical cancer		ISO	RGD:735462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8784308	Dll3	delta like canonical Notch ligand 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784308	Dll3	delta like canonical Notch ligand 3	gene	DOID:630	genetic disease		ISO	RGD:735462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12746394|PMID:28492532
8784308	Dll3	delta like canonical Notch ligand 3	gene	DOID:9005835	Congenital Abnormalities		ISO	RGD:735462	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17849441
8784308	Dll3	delta like canonical Notch ligand 3	gene	DOID:9006006	Spondylocostal Dysostosis, Autosomal Recessive		ISO	RGD:735462	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8784308	Dll3	delta like canonical Notch ligand 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8784308	Dll3	delta like canonical Notch ligand 3	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:735462	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17849441
8784321	Epha5	EPH receptor A5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8784321	Epha5	EPH receptor A5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8784321	Epha5	EPH receptor A5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8784321	Epha5	EPH receptor A5	gene	DOID:1115	sarcoma		ISO	RGD:1605127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8784321	Epha5	EPH receptor A5	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1605127	D	RGD:8554872	20250422	ClinVar		ClinVar Annotator: match by term: Astrocytoma	PMID:25741868
8784321	Epha5	EPH receptor A5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784321	Epha5	EPH receptor A5	gene	DOID:6039	uveal melanoma		ISO	RGD:1605127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8784321	Epha5	EPH receptor A5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348339	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:22366787|PMID:25741868
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1348339	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0060290	Ohdo syndrome, SBBYS variant		ISO	RGD:1348339	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Blepharophimosis intellectual disability syndrome	PMID:32694869
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0060307	autosomal dominant intellectual developmental disorder		ISO	RGD:1348339	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant	
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant epilepsy	PMID:25741868
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0070042	Coffin-Siris syndrome 1		ISO	RGD:1348339	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome 1	PMID:22366787|PMID:22426308|PMID:22426309|PMID:25724810|PMID:25741868
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adenoid cystic carcinoma	
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0081441	Nicolaides-Baraitser syndrome		ISO	RGD:1348339	D	RGD:7240710	20180130	OMIM			
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0081441	Nicolaides-Baraitser syndrome		ISO	RGD:1348339	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability-sparse hair-brachydactyly syndrome | ClinVar Annotator: match by term: NICOLAIDES-BARAITSER SYNDROME | ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome | ClinVar Annotator: match by term: SMARCA2-related BAFopathy | ClinVar Annotator: match by term: SMARCA2-related condition	PMID:17576681|PMID:18414213|PMID:19606471|PMID:22366787|PMID:22426308|PMID:22426309|PMID:23752187|PMID:23906836|PMID:23929686|PMID:24090879|PMID:25169058|PMID:25326637|PMID:25724810|PMID:25741868|PMID:27099726|PMID:27399259|PMID:27479843|PMID:27665729|PMID:28333917|PMID:28424519|PMID:28492532|PMID:28512736|PMID:28824374|PMID:28948053|PMID:30459321|PMID:31031587|PMID:31288860|PMID:31785789|PMID:32657847|PMID:32694869|PMID:32901917|PMID:34906496|PMID:35887114|PMID:37500730|PMID:8287185|PMID:9536098
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0081442	blepharophimosis-impaired intellectual development syndrome		ISO	RGD:1348339	D	RGD:7240710	20230215	OMIM			
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0081442	blepharophimosis-impaired intellectual development syndrome		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Blepharophimosis-impaired intellectual development syndrome	PMID:25533962|PMID:25741868|PMID:27399259|PMID:27479843|PMID:28191890|PMID:28424519|PMID:28492532|PMID:28628100|PMID:32694869
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1348339	D	RGD:9068941	20200609	RGD			PMID:17075831|REF_RGD_ID:2302527
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:10348	blepharophimosis		ISO	RGD:1348339	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:25741868
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: Severe intellectual disability	PMID:22366787|PMID:25169058|PMID:25533962|PMID:25741868|PMID:27399259|PMID:27479843|PMID:28191890|PMID:28424519|PMID:28492532|PMID:28628100|PMID:31785789|PMID:32694869
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:10907	microcephaly		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:22366787|PMID:25741868|PMID:28492532|PMID:31785789
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:1115	sarcoma		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:11383	cryptorchidism		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:22366787|PMID:25741868|PMID:28492532
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:12849	autistic disorder		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:1324	lung cancer		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1348339	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:1826	epilepsy		ISO	RGD:1348339	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22366787|PMID:25169058|PMID:25741868|PMID:28492532|PMID:31288860|PMID:32694869
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:1909	melanoma		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:1925	Coffin-Siris syndrome		ISO	RGD:1348339	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:22426308
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:22366787|PMID:25741868|PMID:28492532
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:2841	asthma		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25533962|PMID:25741868|PMID:28628100|PMID:32694869
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348339	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:630	genetic disease		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:25533962|PMID:25741868|PMID:27399259|PMID:27479843|PMID:28191890|PMID:28263302|PMID:28424519|PMID:28492532|PMID:28628100|PMID:29549119|PMID:31813803|PMID:32694869
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:674	cleft palate		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:22366787|PMID:25741868|PMID:28492532
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25533962|PMID:25741868|PMID:28628100|PMID:32694869
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9004030	Pituitary Stalk Interruption Syndrome		ISO	RGD:1348339	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pituitary stalk interruption syndrome	PMID:25741868
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348339	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9004507	Hirsutism		ISO	RGD:1348339	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:22366787|PMID:25741868
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9004866	Ataxia		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:22366787|PMID:22426308|PMID:22426309|PMID:25724810|PMID:25741868
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	PMID:16738128|PMID:25169058
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9005736	Pallor		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pallor	PMID:22366787|PMID:25741868|PMID:28492532
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:22366787|PMID:25741868|PMID:28492532
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22366787|PMID:22426308|PMID:22426309|PMID:22822383|PMID:25724810|PMID:25741868|PMID:28492532|PMID:30952489|PMID:37500730
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9008582	Developmental Disease		ISO	RGD:1348339	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8784359	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:93	language disorder		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:22366787|PMID:25741868|PMID:28492532
8784428	Rps14	ribosomal protein S14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8784428	Rps14	ribosomal protein S14	gene	DOID:0090016	chromosome 5q deletion syndrome		ISO	RGD:731753	D	RGD:7240710	20180130	OMIM			
8784428	Rps14	ribosomal protein S14	gene	DOID:1227	neutropenia		ISO	RGD:731753	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27725143
8784428	Rps14	ribosomal protein S14	gene	DOID:305	carcinoma		ISO	RGD:731753	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8784428	Rps14	ribosomal protein S14	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8784428	Rps14	ribosomal protein S14	gene	DOID:5041	esophageal cancer		ISO	RGD:731753	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8784428	Rps14	ribosomal protein S14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784428	Rps14	ribosomal protein S14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8784428	Rps14	ribosomal protein S14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8784428	Rps14	ribosomal protein S14	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:731753	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8784428	Rps14	ribosomal protein S14	gene	DOID:9002669	Hypoxia		ISO	RGD:731753	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18258771
8784428	Rps14	ribosomal protein S14	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:731753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8784428	Rps14	ribosomal protein S14	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:731753	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8784428	Rps14	ribosomal protein S14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8784437	Ppp2r1b	protein phosphatase 2 scaffold subunit Abeta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8784437	Ppp2r1b	protein phosphatase 2 scaffold subunit Abeta	gene	DOID:1115	sarcoma		ISO	RGD:1312396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8784437	Ppp2r1b	protein phosphatase 2 scaffold subunit Abeta	gene	DOID:1324	lung cancer		ISO	RGD:1312396	D	RGD:7240710	20240124	OMIM			
8784437	Ppp2r1b	protein phosphatase 2 scaffold subunit Abeta	gene	DOID:1324	lung cancer		ISO	RGD:1312396	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LUNG CANCER, SOMATIC | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: PPP2R1B-related condition	
8784437	Ppp2r1b	protein phosphatase 2 scaffold subunit Abeta	gene	DOID:1909	melanoma		ISO	RGD:1312396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8784437	Ppp2r1b	protein phosphatase 2 scaffold subunit Abeta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8784437	Ppp2r1b	protein phosphatase 2 scaffold subunit Abeta	gene	DOID:4362	cervical cancer		ISO	RGD:1312396	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8784437	Ppp2r1b	protein phosphatase 2 scaffold subunit Abeta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8784437	Ppp2r1b	protein phosphatase 2 scaffold subunit Abeta	gene	DOID:5041	esophageal cancer		ISO	RGD:1312396	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8784437	Ppp2r1b	protein phosphatase 2 scaffold subunit Abeta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784437	Ppp2r1b	protein phosphatase 2 scaffold subunit Abeta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8784437	Ppp2r1b	protein phosphatase 2 scaffold subunit Abeta	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1312396	D	RGD:9068941	20240125	CTD		CTD Direct Evidence: marker/mechanism	
8784437	Ppp2r1b	protein phosphatase 2 scaffold subunit Abeta	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8784437	Ppp2r1b	protein phosphatase 2 scaffold subunit Abeta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:0060058	lymphoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:10283	prostate cancer		ISO	RGD:1314617	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:10283	prostate cancer		ISO	RGD:1314617	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:1059	intellectual disability		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:1314618	D	RGD:9068941	20220311	RGD		mRNA:increased expression:hippocampus (mouse)	PMID:23150673|REF_RGD_ID:151665140
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:1115	sarcoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:1324	lung cancer		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:1324	lung cancer	severity	ISO	RGD:1314617	D	RGD:9068941	20220224	RGD		DNA:mutations: :multiple (human)	PMID:33219256|REF_RGD_ID:150429789
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:31164891|PMID:31493933|PMID:35101336
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:162	cancer		ISO	RGD:1314617	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cancer	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:1909	melanoma		ISO	RGD:1314617	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22197931
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:1909	melanoma	ameliorates	ISO	RGD:1314617	D	RGD:9068941	20211001	RGD		DNA:mutations:multiple: (human)	PMID:31164891|REF_RGD_ID:150429775
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:219	colon cancer		ISO	RGD:1314617	D	RGD:9068941	20211001	RGD		human cells in a mouse moel	PMID:28408316|REF_RGD_ID:150429777
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:2394	ovarian cancer		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:3070	high grade glioma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1314617	D	RGD:9068941	20211001	RGD		associated with lung adenocarcinoma;DNA:mutations:multiple: (human)	PMID:28522810|REF_RGD_ID:150429784
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:3121	gallbladder cancer	ameliorates	ISO	RGD:1314617	D	RGD:9068941	20211001	RGD		DNA:mutations:multiple: (human)	PMID:32898339|REF_RGD_ID:150429787
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:3234	central nervous system lymphoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary central nervous system lymphoma	PMID:27993330
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma	PMID:24332040|PMID:24436047|PMID:27993330|PMID:28408316
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:3275	thymoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:1314617	D	RGD:9068941	20211001	RGD		DNA:mutations:multiple: (human)	PMID:31164891|REF_RGD_ID:150429775
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1314617	D	RGD:9068941	20211001	RGD		DNA:mutations:multiple: (human)	PMID:18948947|REF_RGD_ID:11064706
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1314617	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138691
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:4928	intrahepatic cholangiocarcinoma	exacerbates	ISO	RGD:1314617	D	RGD:9068941	20211001	RGD		DNA:mutations:multiple: (human)	PMID:33014052|REF_RGD_ID:150429786
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1314617	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:630	genetic disease		ISO	RGD:1314617	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1314617	D	RGD:9068941	20211001	RGD		DNA:mutations:multiple: (human)	PMID:33391418|REF_RGD_ID:150429785
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1314617	D	RGD:9068941	20211001	RGD		protein:increased expression:liver (human)	PMID:33324588|REF_RGD_ID:150429776
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:9002189	High Myopia		ISO	RGD:1314617	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314617	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:9003816	Macrocephaly		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1314617	D	RGD:9068941	20211001	RGD		DNA:mutations, haplotype:multiple: (human)	PMID:33836681|REF_RGD_ID:150429788
8784459	Lrp1b	LDL receptor related protein 1B	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1314617	D	RGD:9068941	20211001	RGD		DNA:mutations, hpalotype:multiple (human)	PMID:31693169|REF_RGD_ID:150429790
8784554	Glce	glucuronic acid epimerase	gene	DOID:10534	stomach cancer		ISO	RGD:1607059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8784554	Glce	glucuronic acid epimerase	gene	DOID:10763	hypertension		ISO	RGD:1607059	D	RGD:9068941	20230805	RGD		DNA:SNP: : rs3865014 (human)	PMID:27699767|REF_RGD_ID:401717571
8784554	Glce	glucuronic acid epimerase	gene	DOID:1909	melanoma		ISO	RGD:1607059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8784554	Glce	glucuronic acid epimerase	gene	DOID:5041	esophageal cancer		ISO	RGD:1607059	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8784554	Glce	glucuronic acid epimerase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784554	Glce	glucuronic acid epimerase	gene	DOID:6713	cerebrovascular disease		ISO	RGD:1607059	D	RGD:9068941	20230805	RGD		DNA:SNP: : rs3865014 (human)	PMID:27699767|REF_RGD_ID:401717571
8784554	Glce	glucuronic acid epimerase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8784573	Rnf34	ring finger protein 34	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784573	Rnf34	ring finger protein 34	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1352323	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16270526
8784573	Rnf34	ring finger protein 34	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8784587	Prickle2	prickle planar cell polarity protein 2	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1315504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
8784587	Prickle2	prickle planar cell polarity protein 2	gene	DOID:0060307	autosomal dominant intellectual developmental disorder		ISO	RGD:1315504	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability	
8784587	Prickle2	prickle planar cell polarity protein 2	gene	DOID:0070309	absence epilepsy		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868
8784587	Prickle2	prickle planar cell polarity protein 2	gene	DOID:0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		ISO	RGD:1315504	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28166811|PMID:28492532|PMID:29358611|PMID:9536098
8784587	Prickle2	prickle planar cell polarity protein 2	gene	DOID:0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		ISO	RGD:1315504	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28492532|PMID:29358611|PMID:9536098
8784587	Prickle2	prickle planar cell polarity protein 2	gene	DOID:0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5	PMID:24088041|PMID:26633545|PMID:28492532
8784587	Prickle2	prickle planar cell polarity protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868
8784587	Prickle2	prickle planar cell polarity protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8784587	Prickle2	prickle planar cell polarity protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1315504	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	
8784587	Prickle2	prickle planar cell polarity protein 2	gene	DOID:4428	dyslexia		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	PMID:25741868
8784587	Prickle2	prickle planar cell polarity protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784587	Prickle2	prickle planar cell polarity protein 2	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1315504	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonus epilepsy	PMID:21276947|PMID:23711981|PMID:25741868|PMID:26467025|PMID:26942291|PMID:26942292|PMID:28492532|PMID:29358611
8784587	Prickle2	prickle planar cell polarity protein 2	gene	DOID:9000495	Tremor		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868
8784587	Prickle2	prickle planar cell polarity protein 2	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus epilepsy	PMID:25741868|PMID:26467025|PMID:28492532
8784587	Prickle2	prickle planar cell polarity protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8784587	Prickle2	prickle planar cell polarity protein 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1315504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
8784587	Prickle2	prickle planar cell polarity protein 2	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:1315504	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5	PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28492532|PMID:29358611|PMID:9536098
8784587	Prickle2	prickle planar cell polarity protein 2	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:1315504	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5	PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28492532|PMID:29358611|PMID:31069529|PMID:9536098
8784587	Prickle2	prickle planar cell polarity protein 2	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31069529|PMID:32970752|PMID:9536098
8784605	Rem1	RRAD and GEM like GTPase 1	gene	DOID:1324	lung cancer		ISO	RGD:1315248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8784605	Rem1	RRAD and GEM like GTPase 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1315248	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8784605	Rem1	RRAD and GEM like GTPase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784639	Dusp14	dual specificity phosphatase 14	gene	DOID:2957	pulmonary tuberculosis	onset	ISO	RGD:1316598	D	RGD:9068941	20251002	RGD		DNA:SNP:exon:rs1051838	PMID:26938665|REF_RGD_ID:628360904
8784639	Dusp14	dual specificity phosphatase 14	gene	DOID:3070	high grade glioma		ISO	RGD:1316598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8784639	Dusp14	dual specificity phosphatase 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784639	Dusp14	dual specificity phosphatase 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:0050951	hereditary ataxia		ISO	RGD:733095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:10286	prostate carcinoma		ISO	RGD:733095	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:tumor:in matched malignant and non-malignant sample pairs (p = 0.009)	PMID:16211407|REF_RGD_ID:2301682
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:10534	stomach cancer		ISO	RGD:733095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:10923	sickle cell anemia		ISO	RGD:733095	D	RGD:9068941	20200609	RGD		protein:increased activity:erythrocyte	PMID:900140|REF_RGD_ID:12904674
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:11396	pulmonary edema		ISO	RGD:733095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary edema	PMID:11013452|PMID:28492532|PMID:29360981
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:733095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:11013452|PMID:28492532|PMID:29360981
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:1324	lung cancer		ISO	RGD:733095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:13603	obstructive jaundice		ISO	RGD:2801	D	RGD:9068941	20200609	RGD		Protein:increased activity:liver (rat)	PMID:3963818|REF_RGD_ID:4144803
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:1920	hyperuricemia		ISO	RGD:733095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hyperuricemia	PMID:25741868
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:2018	hyperinsulinism		ISO	RGD:733095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperinsulinemia	PMID:11013452|PMID:28492532|PMID:29360981
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:2030	anxiety disorder		ISO	RGD:733095	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:2801	D	RGD:9068941	20200609	RGD		protein:increased activity:liver (rat)	PMID:3963818|REF_RGD_ID:4144803
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:3133	acute porphyria		ISO	RGD:733095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute Porphyria	PMID:10657149|PMID:11013452|PMID:25741868|PMID:27539938|PMID:28492532|PMID:29360981
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:3650	lactic acidosis		ISO	RGD:733095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:11013452|PMID:28492532|PMID:29360981
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:3890	acute intermittent porphyria		ISO	RGD:733095	D	RGD:7240710	20180130	OMIM			
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:3890	acute intermittent porphyria		ISO	RGD:733095	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Acute Intermittent Porphyria | ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: HMBS-related condition | ClinVar Annotator: match by term: Hydroxymethylbilane Synthase Deficiency | ClinVar Annotator: match by term: PBGD DEFICIENCY | ClinVar Annotator: match by term: PORPHYRIA, ACUTE INTERMITTENT | ClinVar Annotator: match by term: Porphyria, acute intermittent	PMID:10453740|PMID:10657149|PMID:11013452|PMID:11055586|PMID:11399210|PMID:11591889|PMID:11857754|PMID:12357456|PMID:12372055|PMID:1301948|PMID:1427766|PMID:1496994|PMID:15003823|PMID:15469427|PMID:15534187|PMID:15643298|PMID:15669678|PMID:1577472|PMID:16199547|PMID:16211556|PMID:17298216|PMID:17576681|PMID:19138865|PMID:19267997|PMID:19401933|PMID:19460837|PMID:19656452|PMID:20301372|PMID:2243128|PMID:23815679|PMID:25118551|PMID:25445397|PMID:25741868|PMID:26075277|PMID:27507172|PMID:27539938|PMID:27849156|PMID:28492532|PMID:29360981|PMID:30740734|PMID:31044425|PMID:31073229|PMID:31216405|PMID:32806544|PMID:33445488|PMID:7635464|PMID:7757070|PMID:7962538|PMID:8081367|PMID:8262523|PMID:8268934|PMID:8270254|PMID:8270256|PMID:9067752|PMID:9199558|PMID:9225970|PMID:9281416|PMID:9350165|PMID:9463797|PMID:9536098
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:3890	acute intermittent porphyria	severity	ISO	RGD:733096	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds: p.R167Q (c.500G>A) (mouse)	PMID:30615115|REF_RGD_ID:21079460
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:3890	acute intermittent porphyria	susceptibility	ISO	RGD:733095	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon 10: p.R173W (c.517C>T) (human)	PMID:9523350|REF_RGD_ID:19165353
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:3890	acute intermittent porphyria	treatment	ISO	RGD:733095	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:28990424|REF_RGD_ID:21079452
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:3890	acute intermittent porphyria	treatment	ISO	RGD:733095	D	RGD:9068941	20200609	RGD		human mRNA in a mouse model	PMID:30297912|REF_RGD_ID:21079456
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:4440	seminoma		ISO	RGD:733095	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor	PMID:15823405|REF_RGD_ID:2301683
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:4500	hypokalemia		ISO	RGD:733095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypokalemia	PMID:11013452|PMID:28492532|PMID:29360981
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:5041	esophageal cancer		ISO	RGD:733095	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:630	genetic disease		ISO	RGD:733095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:26795593|PMID:28492532
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:686	liver carcinoma	sexual_dimorphism	ISO	RGD:2801	D	RGD:9068941	20200609	RGD		Protein:increased activity:liver (rat)	PMID:1781034|REF_RGD_ID:25440495
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:733095	D	RGD:9068941	20200609	RGD		associated with Porphyria, Acute Intermittent (MeSH:D017118); protein:reduced activity:erythrocytes	PMID:2809566|REF_RGD_ID:2301684
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:9002558	Acute Intermittent Porphyria, Nonerythroid Variant		ISO	RGD:733095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT	PMID:12406973|PMID:16199547|PMID:25923088|PMID:27539938|PMID:28492532|PMID:7757070|PMID:7962538
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:9003752	Persistent Truncus Arteriosus		ISO	RGD:733095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Persistent truncus arteriosus	PMID:11013452|PMID:28492532|PMID:29360981
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:9003823	ENCEPHALOPATHY, PORPHYRIA-RELATED		ISO	RGD:733095	D	RGD:7240710	20240515	OMIM			
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:9003823	ENCEPHALOPATHY, PORPHYRIA-RELATED		ISO	RGD:733095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ENCEPHALOPATHY, PORPHYRIA-RELATED | ClinVar Annotator: match by term: Encephalopathy, porphyria-related	PMID:10657149|PMID:25741868|PMID:28492532
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:9005584	Hepatic Porphyrias		ISO	RGD:2801	D	RGD:9068941	20200609	RGD		protein:increased activity:liver (rat)	PMID:6721832|REF_RGD_ID:4144806
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2801	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver (rat)	PMID:6688350|REF_RGD_ID:4144808
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:9005734	Abdominal Pain		ISO	RGD:733095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:25741868
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:733095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:11013452|PMID:28492532|PMID:29360981
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:9006030	Infant Death		ISO	RGD:733095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Death in infancy	PMID:11013452|PMID:28492532|PMID:29360981
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:9006618	Liver Metastasis		ISO	RGD:2801	D	RGD:9068941	20200609	RGD		associated with colon adenocarcinoma;protein:decreased activity:liver(rat)	PMID:1386052|REF_RGD_ID:25440496
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:9006635	Hyponatremia		ISO	RGD:733095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hyponatremia	PMID:25741868
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:9008385	Vomiting		ISO	RGD:733095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:11013452|PMID:28492532|PMID:29360981
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:9008772	LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED		ISO	RGD:733095	D	RGD:7240710	20240327	OMIM			
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:9008772	LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED		ISO	RGD:733095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED | ClinVar Annotator: match by term: Leukoencephalopathy, porphyria-related	PMID:10657149|PMID:25741868|PMID:28492532
8784657	Hmbs	hydroxymethylbilane synthase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8784682	Cmtm7	CKLF like MARVEL transmembrane domain containing 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8784682	Cmtm7	CKLF like MARVEL transmembrane domain containing 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8784682	Cmtm7	CKLF like MARVEL transmembrane domain containing 7	gene	DOID:1115	sarcoma		ISO	RGD:1313855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8784682	Cmtm7	CKLF like MARVEL transmembrane domain containing 7	gene	DOID:1909	melanoma		ISO	RGD:1313855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8784682	Cmtm7	CKLF like MARVEL transmembrane domain containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784682	Cmtm7	CKLF like MARVEL transmembrane domain containing 7	gene	DOID:6039	uveal melanoma		ISO	RGD:1313855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8784682	Cmtm7	CKLF like MARVEL transmembrane domain containing 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8784714	Stard3	StAR related lipid transfer domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8784714	Stard3	StAR related lipid transfer domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8784714	Stard3	StAR related lipid transfer domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8784714	Stard3	StAR related lipid transfer domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8784714	Stard3	StAR related lipid transfer domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8784714	Stard3	StAR related lipid transfer domain containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8784714	Stard3	StAR related lipid transfer domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8784714	Stard3	StAR related lipid transfer domain containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8784714	Stard3	StAR related lipid transfer domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1347857	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8784714	Stard3	StAR related lipid transfer domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784714	Stard3	StAR related lipid transfer domain containing 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1347857	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8784714	Stard3	StAR related lipid transfer domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8784714	Stard3	StAR related lipid transfer domain containing 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1347857	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881|PMID:17592021
8784714	Stard3	StAR related lipid transfer domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8784714	Stard3	StAR related lipid transfer domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8784714	Stard3	StAR related lipid transfer domain containing 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1347857	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8784743	Ttl	tubulin tyrosine ligase	gene	DOID:1324	lung cancer		ISO	RGD:732112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8784743	Ttl	tubulin tyrosine ligase	gene	DOID:1909	melanoma		ISO	RGD:732112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8784743	Ttl	tubulin tyrosine ligase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8784743	Ttl	tubulin tyrosine ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784743	Ttl	tubulin tyrosine ligase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8784743	Ttl	tubulin tyrosine ligase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8784756	Cep20	centrosomal protein 20	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8784756	Cep20	centrosomal protein 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8784756	Cep20	centrosomal protein 20	gene	DOID:5041	esophageal cancer		ISO	RGD:1606173	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8784756	Cep20	centrosomal protein 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784756	Cep20	centrosomal protein 20	gene	DOID:9000664	Familial Thoracic Aortic Aneurysm 4		ISO	RGD:26891515|RGD:26893177	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus	PMID:22318994|PMID:27884122|PMID:28492532|PMID:29179725
8784756	Cep20	centrosomal protein 20	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8784774	Rpl34	ribosomal protein L34	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8784774	Rpl34	ribosomal protein L34	gene	DOID:10534	stomach cancer		ISO	RGD:1319729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8784774	Rpl34	ribosomal protein L34	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8784774	Rpl34	ribosomal protein L34	gene	DOID:5041	esophageal cancer		ISO	RGD:1319729	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8784774	Rpl34	ribosomal protein L34	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784774	Rpl34	ribosomal protein L34	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8784783	Grk7	G protein-coupled receptor kinase 7	gene	DOID:1115	sarcoma		ISO	RGD:1347561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8784792	Nnt	nicotinamide nucleotide transhydrogenase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8784792	Nnt	nicotinamide nucleotide transhydrogenase	gene	DOID:0061243	glucocorticoid deficiency 4 with or without mineralocorticoid deficiency		ISO	RGD:1351355	D	RGD:7240710	20180130	OMIM			
8784792	Nnt	nicotinamide nucleotide transhydrogenase	gene	DOID:0061243	glucocorticoid deficiency 4 with or without mineralocorticoid deficiency		ISO	RGD:1351355	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GLUCOCORTICOID DEFICIENCY 4 | ClinVar Annotator: match by term: GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY | ClinVar Annotator: match by term: GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY | ClinVar Annotator: match by term: Glucocorticoid deficiency 4 | ClinVar Annotator: match by term: NNT-related condition	PMID:25741868|PMID:26548497|PMID:27129361|PMID:28492532|PMID:33223529
8784792	Nnt	nicotinamide nucleotide transhydrogenase	gene	DOID:0080621	glucocorticoid deficiency 1		ISO	RGD:1351355	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22634753
8784792	Nnt	nicotinamide nucleotide transhydrogenase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8784792	Nnt	nicotinamide nucleotide transhydrogenase	gene	DOID:1324	lung cancer		ISO	RGD:1351355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8784792	Nnt	nicotinamide nucleotide transhydrogenase	gene	DOID:1909	melanoma		ISO	RGD:1351355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8784792	Nnt	nicotinamide nucleotide transhydrogenase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8784792	Nnt	nicotinamide nucleotide transhydrogenase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8784792	Nnt	nicotinamide nucleotide transhydrogenase	gene	DOID:5041	esophageal cancer		ISO	RGD:1351355	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8784792	Nnt	nicotinamide nucleotide transhydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784792	Nnt	nicotinamide nucleotide transhydrogenase	gene	DOID:630	genetic disease		ISO	RGD:1351355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8784792	Nnt	nicotinamide nucleotide transhydrogenase	gene	DOID:9006635	Hyponatremia		ISO	RGD:1351355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyponatremia	
8784792	Nnt	nicotinamide nucleotide transhydrogenase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8784792	Nnt	nicotinamide nucleotide transhydrogenase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8784792	Nnt	nicotinamide nucleotide transhydrogenase	gene	DOID:9970	obesity		ISO	RGD:1587346	D	RGD:9068941	20200609	RGD		protein:decreased expression:gastrocnemius, soleus	PMID:25761734|REF_RGD_ID:13513980
8784824	Nr5a2	nuclear receptor subfamily 5 group A member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8784824	Nr5a2	nuclear receptor subfamily 5 group A member 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:68499	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29515023
8784824	Nr5a2	nuclear receptor subfamily 5 group A member 2	gene	DOID:10603	glucose intolerance		ISO	RGD:68499	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29515023
8784824	Nr5a2	nuclear receptor subfamily 5 group A member 2	gene	DOID:1324	lung cancer		ISO	RGD:68499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8784824	Nr5a2	nuclear receptor subfamily 5 group A member 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:68499	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20101243|PMID:26098869
8784824	Nr5a2	nuclear receptor subfamily 5 group A member 2	gene	DOID:1909	melanoma		ISO	RGD:68499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8784824	Nr5a2	nuclear receptor subfamily 5 group A member 2	gene	DOID:219	colon cancer		ISO	RGD:68499	D	RGD:9068941	20220901	RGD		RNA:increased expression:colon (human)	PMID:28710032|REF_RGD_ID:153344627
8784824	Nr5a2	nuclear receptor subfamily 5 group A member 2	gene	DOID:2237	hepatitis	treatment	ISO	RGD:68500	D	RGD:9068941	20200609	RGD			PMID:28406481|REF_RGD_ID:14401591
8784824	Nr5a2	nuclear receptor subfamily 5 group A member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:68499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8784824	Nr5a2	nuclear receptor subfamily 5 group A member 2	gene	DOID:2843	long QT syndrome		ISO	RGD:68499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8784824	Nr5a2	nuclear receptor subfamily 5 group A member 2	gene	DOID:3275	thymoma		ISO	RGD:68499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8784824	Nr5a2	nuclear receptor subfamily 5 group A member 2	gene	DOID:3781	anovulation		ISO	RGD:68499	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18628394
8784824	Nr5a2	nuclear receptor subfamily 5 group A member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:68499	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8784824	Nr5a2	nuclear receptor subfamily 5 group A member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:68499	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8784824	Nr5a2	nuclear receptor subfamily 5 group A member 2	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:68499	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
8784824	Nr5a2	nuclear receptor subfamily 5 group A member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784824	Nr5a2	nuclear receptor subfamily 5 group A member 2	gene	DOID:9003370	Dyslipidemias		ISO	RGD:68499	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29515023
8784824	Nr5a2	nuclear receptor subfamily 5 group A member 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:68499	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29515023
8784824	Nr5a2	nuclear receptor subfamily 5 group A member 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:68499	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29515023
8784824	Nr5a2	nuclear receptor subfamily 5 group A member 2	gene	DOID:9007456	Female Infertility		ISO	RGD:68499	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17409375
8784824	Nr5a2	nuclear receptor subfamily 5 group A member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8784848	Kctd15	potassium channel tetramerization domain containing 15	gene	DOID:1115	sarcoma		ISO	RGD:1313572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8784848	Kctd15	potassium channel tetramerization domain containing 15	gene	DOID:1324	lung cancer		ISO	RGD:1313572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8784848	Kctd15	potassium channel tetramerization domain containing 15	gene	DOID:1909	melanoma		ISO	RGD:1313572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8784848	Kctd15	potassium channel tetramerization domain containing 15	gene	DOID:4362	cervical cancer		ISO	RGD:1313572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8784848	Kctd15	potassium channel tetramerization domain containing 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784848	Kctd15	potassium channel tetramerization domain containing 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8784848	Kctd15	potassium channel tetramerization domain containing 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8784848	Kctd15	potassium channel tetramerization domain containing 15	gene	DOID:9970	obesity		ISO	RGD:1313572	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19079261
8784868	Wfdc3	WAP four-disulfide core domain 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8784868	Wfdc3	WAP four-disulfide core domain 3	gene	DOID:1324	lung cancer		ISO	RGD:1313240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8784868	Wfdc3	WAP four-disulfide core domain 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1313240	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8784868	Wfdc3	WAP four-disulfide core domain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784868	Wfdc3	WAP four-disulfide core domain 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8784868	Wfdc3	WAP four-disulfide core domain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:0050538	Charcot-Marie-Tooth disease type 1		ISO	RGD:1343012	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I	
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1343012	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4	
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:0051028	autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis		ISO	RGD:1343012	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22781092|PMID:27686364
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:0070481	schwannomatosis 2		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LZTR1-related schwannomatosis	PMID:25741868
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:0110169	Charcot-Marie-Tooth disease axonal type 2P		ISO	RGD:1343012	D	RGD:7240710	20180130	OMIM			
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:0110169	Charcot-Marie-Tooth disease axonal type 2P		ISO	RGD:1343012	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P | ClinVar Annotator: match by term: CMT 2G | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2P	PMID:16199547|PMID:17576681|PMID:20865121|PMID:22012984|PMID:22781092|PMID:24894446|PMID:25133958|PMID:25741868|PMID:26752306|PMID:26900582|PMID:27164712|PMID:27353043|PMID:27462242|PMID:27549087|PMID:27615052|PMID:27686364|PMID:27848944|PMID:28286897|PMID:28335037|PMID:28492532|PMID:29341362|PMID:29417091|PMID:29845787|PMID:30373780|PMID:30996334|PMID:31211173|PMID:31852984|PMID:32376792|PMID:33414056|PMID:33568173|PMID:34060689|PMID:34190362|PMID:35234685|PMID:35922214|PMID:35936615|PMID:9536098
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:16199547|PMID:20865121|PMID:22012984|PMID:24894446|PMID:25741868|PMID:26752306|PMID:28335037|PMID:28492532|PMID:29341362|PMID:29417091|PMID:31211173|PMID:32376792|PMID:33414056
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:12176	goiter		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:1389	polyneuropathy		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868|PMID:33414056
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:1596	depressive disorder		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:1826	epilepsy		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:1909	melanoma		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:1924	hypogonadism		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:2468	psychotic disorder		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:3312	bipolar disorder		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:480	movement disease		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1343012	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:5419	schizophrenia		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:630	genetic disease		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:20865121|PMID:22012984|PMID:25741868|PMID:26752306|PMID:28335037|PMID:28492532|PMID:29417091|PMID:32376792|PMID:33414056|PMID:34190362|PMID:35234685|PMID:9536098
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:870	neuropathy		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9003126	Hallucinations		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:20865121|PMID:28492532
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9007736	Vertigo		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:936	brain disease		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9409	diabetes insipidus		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:25741868|PMID:28492532|PMID:32376792
8784901	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9970	obesity		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532|PMID:32376792
8784938	Pp2d1	protein phosphatase 2C like domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8784945	Fut1	fucosyltransferase 1 (H blood group)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8784945	Fut1	fucosyltransferase 1 (H blood group)	gene	DOID:1520	colon carcinoma	susceptibility	ISO	RGD:2638	D	RGD:9068941	20260409	RGD			PMID:9935164|REF_RGD_ID:645122508
8784945	Fut1	fucosyltransferase 1 (H blood group)	gene	DOID:3275	thymoma		ISO	RGD:737372	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Thymoma	
8784945	Fut1	fucosyltransferase 1 (H blood group)	gene	DOID:4928	intrahepatic cholangiocarcinoma		ISO	RGD:737372	D	RGD:9068941	20260409	RGD		mRNA:increased expression:bile duct	PMID:34558839|REF_RGD_ID:645122509
8784945	Fut1	fucosyltransferase 1 (H blood group)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784945	Fut1	fucosyltransferase 1 (H blood group)	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8784945	Fut1	fucosyltransferase 1 (H blood group)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8784950	G6pc3	glucose-6-phosphatase catalytic subunit 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8784950	G6pc3	glucose-6-phosphatase catalytic subunit 3	gene	DOID:0080600	COVID-19		ISO	RGD:735418	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8784950	G6pc3	glucose-6-phosphatase catalytic subunit 3	gene	DOID:0112136	severe congenital neutropenia 4		ISO	RGD:735418	D	RGD:7240710	20180130	OMIM			
8784950	G6pc3	glucose-6-phosphatase catalytic subunit 3	gene	DOID:0112136	severe congenital neutropenia 4		ISO	RGD:735418	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar Annotator: match by term: G6PC3-related condition | ClinVar Annotator: match by term: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neutropenia, severe congenital 4, autosomal recessive | ClinVar Annotator: match by term: Severe congenital neutropenia 4, autosomal recessive	PMID:16199547|PMID:17576681|PMID:19118303|PMID:19775295|PMID:20220065|PMID:20616219|PMID:20717171|PMID:21264919|PMID:21385794|PMID:22050868|PMID:22469094|PMID:23171239|PMID:23180359|PMID:23298686|PMID:23441086|PMID:23454784|PMID:23758768|PMID:24033266|PMID:24105461|PMID:24549407|PMID:24750412|PMID:25391451|PMID:25491320|PMID:25492228|PMID:25741868|PMID:27571123|PMID:27577878|PMID:27611587|PMID:28492532|PMID:29163546|PMID:30040071|PMID:30386760|PMID:31321910|PMID:32623377|PMID:33259599|PMID:34305938|PMID:35525891|PMID:35838821|PMID:36190223|PMID:9536098
8784950	G6pc3	glucose-6-phosphatase catalytic subunit 3	gene	DOID:1115	sarcoma		ISO	RGD:735418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8784950	G6pc3	glucose-6-phosphatase catalytic subunit 3	gene	DOID:1909	melanoma		ISO	RGD:735418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8784950	G6pc3	glucose-6-phosphatase catalytic subunit 3	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:735418	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:25741868|PMID:31157858
8784950	G6pc3	glucose-6-phosphatase catalytic subunit 3	gene	DOID:630	genetic disease		ISO	RGD:735418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8784950	G6pc3	glucose-6-phosphatase catalytic subunit 3	gene	DOID:9003802	Dursun Syndrome		ISO	RGD:735418	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DURSUN SYNDROME | ClinVar Annotator: match by term: Dursun syndrome	PMID:24033266|PMID:25741868|PMID:28492532
8784985	Usp4	ubiquitin specific peptidase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8784985	Usp4	ubiquitin specific peptidase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8784985	Usp4	ubiquitin specific peptidase 4	gene	DOID:1324	lung cancer		ISO	RGD:1344173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8784985	Usp4	ubiquitin specific peptidase 4	gene	DOID:3070	high grade glioma		ISO	RGD:1344173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8784985	Usp4	ubiquitin specific peptidase 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1344173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8784985	Usp4	ubiquitin specific peptidase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1344173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8784985	Usp4	ubiquitin specific peptidase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8784985	Usp4	ubiquitin specific peptidase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8784985	Usp4	ubiquitin specific peptidase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8784985	Usp4	ubiquitin specific peptidase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8785010	Hnrnpf	heterogeneous nuclear ribonucleoprotein F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785010	Hnrnpf	heterogeneous nuclear ribonucleoprotein F	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785010	Hnrnpf	heterogeneous nuclear ribonucleoprotein F	gene	DOID:9432	renal glycosuria		ISO	RGD:731709	D	RGD:9068941	20220825	MouseDO		OMIM:233100	
8785016	Reck	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8785016	Reck	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:0060058	lymphoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8785016	Reck	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:10534	stomach cancer		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8785016	Reck	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:1115	sarcoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8785016	Reck	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:1909	melanoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8785016	Reck	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8785016	Reck	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:3068	glioblastoma		ISO	RGD:1318851	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20127710
8785016	Reck	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1318851	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17233834
8785016	Reck	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8785016	Reck	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:4362	cervical cancer		ISO	RGD:1318851	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8785016	Reck	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8785016	Reck	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785016	Reck	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8785016	Reck	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1318851	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17233834
8785016	Reck	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318851	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8785016	Reck	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1318851	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17443689
8785016	Reck	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8785016	Reck	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1318851	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20127710
8785040	Nptxr	neuronal pentraxin receptor	gene	DOID:1324	lung cancer		ISO	RGD:1607068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8785040	Nptxr	neuronal pentraxin receptor	gene	DOID:2316	brain ischemia		ISO	RGD:628898	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:neocortex	PMID:12242102|REF_RGD_ID:1642302
8785040	Nptxr	neuronal pentraxin receptor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1607068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8785040	Nptxr	neuronal pentraxin receptor	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1607068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8785040	Nptxr	neuronal pentraxin receptor	gene	DOID:6000	congestive heart failure		ISO	RGD:628898	D	RGD:9068941	20200609	RGD		associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum	PMID:16497176|REF_RGD_ID:1642301
8785040	Nptxr	neuronal pentraxin receptor	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1607068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8785040	Nptxr	neuronal pentraxin receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8785048	Cfap300	cilia and flagella associated protein 300	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:1605606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Transposition of the great arteries	
8785048	Cfap300	cilia and flagella associated protein 300	gene	DOID:0111852	primary ciliary dyskinesia 38		ISO	RGD:1605606	D	RGD:7240710	20190315	OMIM			
8785048	Cfap300	cilia and flagella associated protein 300	gene	DOID:0111852	primary ciliary dyskinesia 38		ISO	RGD:1605606	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: CFAP300-related condition | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 38 | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 38	PMID:25741868|PMID:28492532|PMID:29727692|PMID:29727693
8785048	Cfap300	cilia and flagella associated protein 300	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8785048	Cfap300	cilia and flagella associated protein 300	gene	DOID:3070	high grade glioma		ISO	RGD:1605606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8785048	Cfap300	cilia and flagella associated protein 300	gene	DOID:630	genetic disease		ISO	RGD:1605606	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8785048	Cfap300	cilia and flagella associated protein 300	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785048	Cfap300	cilia and flagella associated protein 300	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1605606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary valve atresia	
8785059	Cep350	centrosomal protein 350	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8785059	Cep350	centrosomal protein 350	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8785059	Cep350	centrosomal protein 350	gene	DOID:10534	stomach cancer		ISO	RGD:1605105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8785059	Cep350	centrosomal protein 350	gene	DOID:1115	sarcoma		ISO	RGD:1605105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8785059	Cep350	centrosomal protein 350	gene	DOID:1324	lung cancer		ISO	RGD:1605105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8785059	Cep350	centrosomal protein 350	gene	DOID:1909	melanoma		ISO	RGD:1605105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8785059	Cep350	centrosomal protein 350	gene	DOID:4362	cervical cancer		ISO	RGD:1605105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8785059	Cep350	centrosomal protein 350	gene	DOID:5041	esophageal cancer		ISO	RGD:1605105	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8785059	Cep350	centrosomal protein 350	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785059	Cep350	centrosomal protein 350	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8785059	Cep350	centrosomal protein 350	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785059	Cep350	centrosomal protein 350	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8785059	Cep350	centrosomal protein 350	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8785103	Vgll1	vestigial like family member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8785103	Vgll1	vestigial like family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352400	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785103	Vgll1	vestigial like family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785103	Vgll1	vestigial like family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8785103	Vgll1	vestigial like family member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8785126	CUNH3orf70	chromosome unknown C3orf70 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8785126	CUNH3orf70	chromosome unknown C3orf70 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1605238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8785126	CUNH3orf70	chromosome unknown C3orf70 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785126	CUNH3orf70	chromosome unknown C3orf70 homolog	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1562339	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8785126	CUNH3orf70	chromosome unknown C3orf70 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:0050868	hepatocellular adenoma	ameliorates	ISO	RGD:731489	D	RGD:9068941	20220224	RGD			PMID:26560698|REF_RGD_ID:11342977
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:10534	stomach cancer	ameliorates	ISO	RGD:731488	D	RGD:9068941	20220224	RGD			PMID:23828905|REF_RGD_ID:151356998
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:13207	proliferative diabetic retinopathy		ISO	RGD:731488	D	RGD:9068941	20220224	RGD		protein:increased activity:serum:	PMID:28724746|REF_RGD_ID:151356966
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:13208	background diabetic retinopathy		ISO	RGD:731488	D	RGD:9068941	20220224	RGD		protein:increased activity:serum:	PMID:28724746|REF_RGD_ID:151356966
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:1324	lung cancer		ISO	RGD:731488	D	RGD:7240710	20240124	OMIM			
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:1324	lung cancer		ISO	RGD:731488	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: MAP3K8-related condition	PMID:25741868|PMID:28492532
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:1324	lung cancer	exacerbates	ISO	RGD:731489	D	RGD:9068941	20220224	RGD			PMID:26300007|REF_RGD_ID:11535492
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:1612	breast cancer		ISO	RGD:731488	D	RGD:9068941	20220217	RGD			PMID:10490831|REF_RGD_ID:151356925
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:1909	melanoma		ISO	RGD:731488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:731488	D	RGD:9068941	20220224	RGD			PMID:23533274|PMID:28393206|REF_RGD_ID:151356965|REF_RGD_ID:151356978
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:731489	D	RGD:9068941	20220224	RGD			PMID:23533274|REF_RGD_ID:151356978
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:4362	cervical cancer		ISO	RGD:731488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:4467	clear cell renal cell carcinoma	ameliorates	ISO	RGD:731488	D	RGD:9068941	20220224	RGD			PMID:23982215|REF_RGD_ID:151356974
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:4467	clear cell renal cell carcinoma	disease_progression	ISO	RGD:731488	D	RGD:9068941	20220224	RGD			PMID:23982215|REF_RGD_ID:151356974
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:5041	esophageal cancer		ISO	RGD:731488	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:731489	D	RGD:9068941	20220224	RGD			PMID:26560698|REF_RGD_ID:11342977
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:9000371	influenza A	exacerbates	ISO	RGD:731489	D	RGD:9068941	20220224	RGD			PMID:26241898|REF_RGD_ID:11055126
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731488	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:9001642	Intestinal Polyps		ISO	RGD:10166	D	RGD:9068941	20220224	RGD			PMID:22451924|REF_RGD_ID:151356977
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:9002245	Intestinal Neoplasms		ISO	RGD:731489	D	RGD:9068941	20220224	RGD			PMID:23064365|REF_RGD_ID:151356997
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:9002869	Schistosomiasis Mansoni	exacerbates	ISO	RGD:731489	D	RGD:9068941	20220224	RGD			PMID:27487182|REF_RGD_ID:151356963
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:731488	D	RGD:9068941	20240125	CTD		CTD Direct Evidence: marker/mechanism	
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620969	D	RGD:9068941	20220224	RGD		protein:increased activity:serum:	PMID:28724746|REF_RGD_ID:151356966
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:731489	D	RGD:9068941	20220224	RGD		protein:increased activity:serum:	PMID:28724746|REF_RGD_ID:151356966
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:731488	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:9007702	Carcinogenesis		ISO	RGD:731488	D	RGD:9068941	20220217	RGD			PMID:15287022|REF_RGD_ID:151356924
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:9007702	Carcinogenesis		ISO	RGD:731489	D	RGD:9068941	20220224	RGD			PMID:23533274|REF_RGD_ID:151356978
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:9009121	lung metastasis	ameliorates	ISO	RGD:731488	D	RGD:9068941	20220224	RGD		associated with clear cell renal cell carcinoma	PMID:23982215|REF_RGD_ID:151356974
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:731488	D	RGD:9068941	20220224	RGD			PMID:23322277|PMID:29763718|REF_RGD_ID:151356994|REF_RGD_ID:151356995
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731489	D	RGD:9068941	20220224	RGD		protein:increased activity:serum:	PMID:28724746|REF_RGD_ID:151356966
8785145	Map3k8	mitogen-activated protein kinase kinase kinase 8	gene	DOID:9452	steatotic liver disease	ameliorates	ISO	RGD:731489	D	RGD:9068941	20220224	RGD			PMID:26560698|REF_RGD_ID:11342977
8785176	Fbxl15	F-box and leucine rich repeat protein 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8785176	Fbxl15	F-box and leucine rich repeat protein 15	gene	DOID:10534	stomach cancer		ISO	RGD:1315065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8785176	Fbxl15	F-box and leucine rich repeat protein 15	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8785176	Fbxl15	F-box and leucine rich repeat protein 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785176	Fbxl15	F-box and leucine rich repeat protein 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8785185	Pdk4	pyruvate dehydrogenase kinase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:69113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8785185	Pdk4	pyruvate dehydrogenase kinase 4	gene	DOID:0060058	lymphoma		ISO	RGD:69113	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8785185	Pdk4	pyruvate dehydrogenase kinase 4	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:69113	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29289645
8785185	Pdk4	pyruvate dehydrogenase kinase 4	gene	DOID:10283	prostate cancer		ISO	RGD:69113	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
8785185	Pdk4	pyruvate dehydrogenase kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:69113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8785185	Pdk4	pyruvate dehydrogenase kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:69113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8785185	Pdk4	pyruvate dehydrogenase kinase 4	gene	DOID:1909	melanoma		ISO	RGD:69113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8785185	Pdk4	pyruvate dehydrogenase kinase 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:69113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8785185	Pdk4	pyruvate dehydrogenase kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69113	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28003426
8785185	Pdk4	pyruvate dehydrogenase kinase 4	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69113	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14563825
8785185	Pdk4	pyruvate dehydrogenase kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785185	Pdk4	pyruvate dehydrogenase kinase 4	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:69113	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8785185	Pdk4	pyruvate dehydrogenase kinase 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:69113	D	RGD:9068941	20260409	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:21182459|PMID:31809757|PMID:40480416
8785212	Mkrn2os	MKRN2 opposite strand	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:6481351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785220	F2r	coagulation factor II thrombin receptor	gene	DOID:10591	pre-eclampsia		ISO	RGD:735960	D	RGD:9068941	20200609	RGD			PMID:12161502|REF_RGD_ID:1581033
8785220	F2r	coagulation factor II thrombin receptor	gene	DOID:10763	hypertension		ISO	RGD:2586	D	RGD:9068941	20200609	RGD			PMID:9168786|REF_RGD_ID:1581034
8785220	F2r	coagulation factor II thrombin receptor	gene	DOID:1909	melanoma		ISO	RGD:735960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8785220	F2r	coagulation factor II thrombin receptor	gene	DOID:2237	hepatitis		ISO	RGD:735960	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21907177
8785220	F2r	coagulation factor II thrombin receptor	gene	DOID:2316	brain ischemia		ISO	RGD:2586	D	RGD:9068941	20200609	RGD			PMID:14705148|REF_RGD_ID:1302269
8785220	F2r	coagulation factor II thrombin receptor	gene	DOID:4724	brain edema		ISO	RGD:2586	D	RGD:9068941	20200609	RGD		associated with Cerebral Hemorrhage	PMID:20541575|REF_RGD_ID:5490126
8785220	F2r	coagulation factor II thrombin receptor	gene	DOID:5082	liver cirrhosis		ISO	RGD:735960	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21037076
8785220	F2r	coagulation factor II thrombin receptor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8785220	F2r	coagulation factor II thrombin receptor	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:735960	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
8785220	F2r	coagulation factor II thrombin receptor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735960	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8785220	F2r	coagulation factor II thrombin receptor	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:735960	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374729
8785220	F2r	coagulation factor II thrombin receptor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:10556	D	RGD:9068941	20200609	RGD			PMID:12717003|REF_RGD_ID:7387270
8785220	F2r	coagulation factor II thrombin receptor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2586	D	RGD:9068941	20200609	RGD			PMID:11877315|REF_RGD_ID:7387271
8785220	F2r	coagulation factor II thrombin receptor	gene	DOID:9002211	Hyperalgesia	severity	ISO	RGD:10556	D	RGD:9068941	20200609	RGD			PMID:19674841|REF_RGD_ID:7387269
8785220	F2r	coagulation factor II thrombin receptor	gene	DOID:9002457	Experimental Arthritis	severity	ISO	RGD:10556	D	RGD:9068941	20200609	RGD			PMID:19674841|REF_RGD_ID:7387269
8785220	F2r	coagulation factor II thrombin receptor	gene	DOID:9005372	Inflammation		ISO	RGD:735960	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20008134
8785220	F2r	coagulation factor II thrombin receptor	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:10556	D	RGD:9068941	20210115	RGD			PMID:24866378|REF_RGD_ID:40924630
8785220	F2r	coagulation factor II thrombin receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8785220	F2r	coagulation factor II thrombin receptor	gene	DOID:9452	steatotic liver disease		ISO	RGD:735960	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20008134|PMID:21907177|PMID:22841818
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:0050851	glomerulosclerosis		ISO	RGD:10126	D	RGD:9068941	20200609	RGD			PMID:20631980|REF_RGD_ID:6903882
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:0050851	glomerulosclerosis		ISO	RGD:2072	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic	PMID:20042458|REF_RGD_ID:6903284
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:0050851	glomerulosclerosis		ISO	RGD:2072	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:12495295|REF_RGD_ID:6903859
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:0050938	breast lobular carcinoma		ISO	RGD:619558	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:8389152
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:0051061	stroke		ISO	RGD:2072	D	RGD:9068941	20200609	RGD			PMID:19246705|REF_RGD_ID:6903905
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:1059	intellectual disability		ISO	RGD:619558	D	RGD:9068941	20200609	RGD			PMID:12089445|REF_RGD_ID:1300276
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:10763	hypertension		ISO	RGD:2072	D	RGD:9068941	20200609	RGD			PMID:19680135|REF_RGD_ID:6903372
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:10763	hypertension		ISO	RGD:2072	D	RGD:9068941	20200609	RGD		associated with Sleep Apnea Syndromes	PMID:21040717|REF_RGD_ID:5129169
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:10763	hypertension		ISO	RGD:2072	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:kidney	PMID:11924718|REF_RGD_ID:6903865
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:10763	hypertension		ISO	RGD:619558	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15710752
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:11049	meconium aspiration syndrome	treatment	ISO	RGD:2072	D	RGD:9068941	20200609	RGD			PMID:14605247|REF_RGD_ID:11039054
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:2072	D	RGD:9068941	20200609	RGD		protein:increased expression:heart	PMID:22120037|REF_RGD_ID:8549486
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:619558	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:heart left ventricle	PMID:9815151|REF_RGD_ID:6903900
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:2072	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney cortex	PMID:21357516|REF_RGD_ID:5129175
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:1591	renovascular hypertension		ISO	RGD:2072	D	RGD:9068941	20200609	RGD			PMID:18158356|PMID:21189405|REF_RGD_ID:6903867|REF_RGD_ID:6903868
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:619558	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas	PMID:11916627|REF_RGD_ID:2325641
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:2841	asthma		ISO	RGD:2072	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:19080339|REF_RGD_ID:5147457
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:2921	glomerulonephritis		ISO	RGD:2072	D	RGD:9068941	20200609	RGD			PMID:19139720|REF_RGD_ID:6903845
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:619558	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney tubule	PMID:15930094|REF_RGD_ID:6903851
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:2986	IgA glomerulonephritis	disease_progression	ISO	RGD:619558	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :1818A>T (human)	PMID:19194560|REF_RGD_ID:6903844
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:10126	D	RGD:9068941	20200609	RGD			PMID:18500976|REF_RGD_ID:5147454
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:2072	D	RGD:9068941	20200609	RGD			PMID:22113494|REF_RGD_ID:6903875
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:619558	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:21102591|REF_RGD_ID:6903280
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:5119	ovarian cyst		ISO	RGD:619558	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:6000	congestive heart failure		ISO	RGD:2072	D	RGD:9068941	20200609	RGD			PMID:18768398|REF_RGD_ID:6903846
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:6000	congestive heart failure		ISO	RGD:2072	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:heart	PMID:21963897|REF_RGD_ID:8549482
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:783	end stage renal disease		ISO	RGD:10126	D	RGD:9068941	20200609	RGD			PMID:19212419|REF_RGD_ID:6903843
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:783	end stage renal disease		ISO	RGD:619558	D	RGD:9068941	20200609	RGD		associated with Vesico-Ureteral Reflux;DNA:SNP: :-1332A>G (human)	PMID:20149750|REF_RGD_ID:6903283
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:784	chronic kidney disease		ISO	RGD:2072	D	RGD:9068941	20200609	RGD			PMID:12089373|REF_RGD_ID:6903863
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:619558	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18059164
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9000352	Vascular System Injuries		ISO	RGD:619558	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16982965
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9000784	Fibrosis		ISO	RGD:10126	D	RGD:9068941	20200609	RGD		associated with Ureteral Obstruction	PMID:18327089|REF_RGD_ID:6903848
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9000784	Fibrosis		ISO	RGD:2072	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:22184331|REF_RGD_ID:6903874
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9000855	Experimental Radiation Injuries		ISO	RGD:2072	D	RGD:9068941	20200609	RGD			PMID:14982483|REF_RGD_ID:6903857
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:2072	D	RGD:9068941	20230720	RGD		associated with hypertension, periodontal disease	PMID:33364953|REF_RGD_ID:329956421
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:619558	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18059164
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9001234	Prenatal Exposure Delayed Effects	treatment	ISO	RGD:2072	D	RGD:9068941	20230817	RGD		associated with maternal adenine induced chronic kidney disease	PMID:32604820|REF_RGD_ID:401793718
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9001611	Urogenital Abnormalities		ISO	RGD:619558	D	RGD:9068941	20200609	RGD		DNA:transition:intron	PMID:16133060|REF_RGD_ID:6903850
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9001611	Urogenital Abnormalities		ISO	RGD:619558	D	RGD:9068941	20200609	RGD		DNA:transition:intron:-1332A>G (human)	PMID:15470205|REF_RGD_ID:6903853
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2072	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney	PMID:18565281|REF_RGD_ID:6903847
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:2072	D	RGD:9068941	20200609	RGD			PMID:21303825|REF_RGD_ID:5129179
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:2072	D	RGD:9068941	20200609	RGD			PMID:22569153|REF_RGD_ID:6903872
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2072	D	RGD:9068941	20200609	RGD			PMID:22920387|REF_RGD_ID:6903870
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:619558	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20467270
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:619558	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8389152
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9005372	Inflammation		ISO	RGD:10126	D	RGD:9068941	20200609	RGD		associated with Ureteral Obstruction	PMID:15153562|REF_RGD_ID:6903855
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2072	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:kidney	PMID:12172324|REF_RGD_ID:6903861
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:619558	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12089445
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9005930	Endotoxemia		ISO	RGD:2072	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney	PMID:16725227|REF_RGD_ID:6903849
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:619558	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15587404|PMID:16025228
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:619558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:2072	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal root ganglion, neuron	PMID:22357959|REF_RGD_ID:6903873
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9008782	AIDS-Associated Nephropathy		ISO	RGD:10126	D	RGD:9068941	20200609	RGD			PMID:2|REF_RGD_ID:1303381
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:10126	D	RGD:9068941	20200609	RGD			PMID:21900645|REF_RGD_ID:6892717
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2072	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:aorta	PMID:18463192|REF_RGD_ID:2313550
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:619558	D	RGD:9068941	20200609	RGD			PMID:11819209|REF_RGD_ID:6903866
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:619558	D	RGD:9068941	20200609	RGD		DNA:transition:intron:-1332A>G (human)	PMID:15470205|REF_RGD_ID:6903853
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9620	vesicoureteral reflux	no_association	ISO	RGD:619558	D	RGD:9068941	20200609	RGD		DNA:transition:intron:-1332A>G (human)	PMID:12187255|REF_RGD_ID:6903860
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9970	obesity		ISO	RGD:10126	D	RGD:9068941	20200609	RGD			PMID:15793237|REF_RGD_ID:2313554
8785225	Agtr2	angiotensin II receptor type 2	gene	DOID:9993	hypoglycemia		ISO	RGD:619558	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :1675G>A (human)	PMID:18328310|REF_RGD_ID:2313551
8785232	Rims2	regulating synaptic membrane exocytosis 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8785232	Rims2	regulating synaptic membrane exocytosis 2	gene	DOID:1324	lung cancer		ISO	RGD:1351338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8785232	Rims2	regulating synaptic membrane exocytosis 2	gene	DOID:1909	melanoma		ISO	RGD:1351338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8785232	Rims2	regulating synaptic membrane exocytosis 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8785232	Rims2	regulating synaptic membrane exocytosis 2	gene	DOID:4362	cervical cancer		ISO	RGD:1351338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8785232	Rims2	regulating synaptic membrane exocytosis 2	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1351338	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
8785232	Rims2	regulating synaptic membrane exocytosis 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8785232	Rims2	regulating synaptic membrane exocytosis 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8785232	Rims2	regulating synaptic membrane exocytosis 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8785232	Rims2	regulating synaptic membrane exocytosis 2	gene	DOID:9003893	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE		ISO	RGD:1351338	D	RGD:7240710	20200910	OMIM			
8785232	Rims2	regulating synaptic membrane exocytosis 2	gene	DOID:9003893	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE		ISO	RGD:1351338	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE | ClinVar Annotator: match by term: Cone-rod synaptic disorder syndrome, congenital nonprogressive	PMID:25741868
8785232	Rims2	regulating synaptic membrane exocytosis 2	gene	DOID:9004066	Congenital Stationary Night Blindness 2B		ISO	RGD:1351338	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: cone-rod synaptic disorder, congenital nonprogressive	PMID:16199547|PMID:25741868|PMID:28492532|PMID:32470375
8785232	Rims2	regulating synaptic membrane exocytosis 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1351338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8785232	Rims2	regulating synaptic membrane exocytosis 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785232	Rims2	regulating synaptic membrane exocytosis 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:0050567	orofacial cleft		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:1304695	D	RGD:9068941	20200609	RGD		protein:increased expression:liver, endoplasmic reticulum (rat)	PMID:25767260|REF_RGD_ID:11553884
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:0080001	bone disease		ISO	RGD:1312289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22228435
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:0080739	Ehlers-Danlos syndrome spondylodysplastic type 3		ISO	RGD:1312289	D	RGD:7240710	20180130	OMIM			
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:0080739	Ehlers-Danlos syndrome spondylodysplastic type 3		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 | ClinVar Annotator: match by term: SLC39A13-related condition	PMID:18513683|PMID:24033266|PMID:25007800|PMID:25741868|PMID:28492532|PMID:32295219
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:10534	stomach cancer		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:1115	sarcoma		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:11830	myopia		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:12176	goiter		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:1324	lung cancer		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:1312289	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:25741868|PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:1596	depressive disorder		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:1826	epilepsy		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:2030	anxiety disorder		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:2841	asthma		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:4667	kyphosis		ISO	RGD:1312289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18985159
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:480	movement disease		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1312289	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:630	genetic disease		ISO	RGD:1312289	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:65	connective tissue disease		ISO	RGD:1312289	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disease	PMID:25741868|PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:7998	hyperthyroidism		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:9000793	Fine-Lubinsky Syndrome		ISO	RGD:1312289	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Fine-Lubinsky Syndrome	PMID:25741868
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:9001733	Tinnitus		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:9003539	Hyperacusis		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:9003566	Mesothelioma		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:9003921	Zinc Deficiency		ISO	RGD:1304695	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung, kidney (rat)	PMID:20859692|REF_RGD_ID:11553849
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:9007573	Flatfoot		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:9007661	Dwarfism		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature	PMID:25741868
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:9007736	Vertigo		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:9008023	Memory Disorders		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:9008421	Epistaxis		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:9009007	Tooth Abnormalities		ISO	RGD:1312289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18985159|PMID:22228435
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:9834	hyperopia		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
8785268	Slc39a13	solute carrier family 39 member 13	gene	DOID:9970	obesity		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
8785285	Slc12a5	solute carrier family 12 member 5	gene	DOID:0080460	developmental and epileptic encephalopathy 34		ISO	RGD:731044	D	RGD:7240710	20260729	OMIM			
8785285	Slc12a5	solute carrier family 12 member 5	gene	DOID:0080460	developmental and epileptic encephalopathy 34		ISO	RGD:731044	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 34 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 34 | ClinVar Annotator: match by term: SLC12A5-related disorder	PMID:16199547|PMID:17576681|PMID:24668262|PMID:24928908|PMID:25741868|PMID:26333769|PMID:27436767|PMID:28106320|PMID:28492532|PMID:31618474|PMID:9536098
8785285	Slc12a5	solute carrier family 12 member 5	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:731044	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: developmental and epileptic encephalopathy	PMID:25741868|PMID:28492532
8785285	Slc12a5	solute carrier family 12 member 5	gene	DOID:11832	visual epilepsy		ISO	RGD:731044	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:20086212
8785285	Slc12a5	solute carrier family 12 member 5	gene	DOID:1824	status epilepticus		ISO	RGD:731044	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20600929
8785285	Slc12a5	solute carrier family 12 member 5	gene	DOID:1826	epilepsy		ISO	RGD:731044	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12000122|PMID:18550034
8785285	Slc12a5	solute carrier family 12 member 5	gene	DOID:1826	epilepsy		ISO	RGD:731045	D	RGD:9068941	20220825	MouseDO			
8785285	Slc12a5	solute carrier family 12 member 5	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:731044	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19674083
8785285	Slc12a5	solute carrier family 12 member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785285	Slc12a5	solute carrier family 12 member 5	gene	DOID:9002211	Hyperalgesia		ISO	RGD:731044	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20086212
8785285	Slc12a5	solute carrier family 12 member 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731044	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: global developmental delay	PMID:25741868|PMID:28492532
8785285	Slc12a5	solute carrier family 12 member 5	gene	DOID:9009306	Idiopathic Generalized Epilepsy 14		ISO	RGD:731044	D	RGD:7240710	20260729	OMIM			
8785285	Slc12a5	solute carrier family 12 member 5	gene	DOID:9009306	Idiopathic Generalized Epilepsy 14		ISO	RGD:731044	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 14 | ClinVar Annotator: match by term: SLC12A5-related disorder	PMID:17576681|PMID:24668262|PMID:24928908|PMID:25741868|PMID:26528127|PMID:28106320|PMID:28492532|PMID:31104500|PMID:9536098
8785285	Slc12a5	solute carrier family 12 member 5	gene	DOID:9009315	Idiopathic Generalized Epilepsy		ISO	RGD:731044	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:0051051	congenital disorder of glycosylation type IIw		ISO	RGD:1351082	D	RGD:7240710	20210929	OMIM			
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:0051051	congenital disorder of glycosylation type IIw		ISO	RGD:1351082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw | ClinVar Annotator: match by term: Congenital disorder of glycosylation,  type IIw | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIw	PMID:21629566|PMID:25741868|PMID:28224733|PMID:28224773|PMID:28492532|PMID:32884905|PMID:33964207|PMID:3728255
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:0081329	glycogen storage disease I		ISO	RGD:1351082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glycogen storage disease, type I	PMID:10923042|PMID:12444104|PMID:15669677|PMID:17994282|PMID:25741868|PMID:26913919|PMID:28492532|PMID:28685844
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:0081330	glycogen storage disease Ib		ISO	RGD:1351082	D	RGD:7240710	20180130	OMIM			
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:0081330	glycogen storage disease Ib		ISO	RGD:1351082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE Ib | ClinVar Annotator: match by term: GSD Ib | ClinVar Annotator: match by term: Glucose-6-phosphate transport defect | ClinVar Annotator: match by term: Glycogen storage disease type Ib	PMID:10026167|PMID:10323254|PMID:10482875|PMID:10482962|PMID:10508514|PMID:10518030|PMID:10874322|PMID:10923042|PMID:10931421|PMID:10940311|PMID:11071391|PMID:11386847|PMID:11949931|PMID:12373566|PMID:12409273|PMID:12444104|PMID:15059622|PMID:15260472|PMID:15757503|PMID:15906092|PMID:16199547|PMID:16490377|PMID:16716283|PMID:17307551|PMID:17576681|PMID:18337460|PMID:18437526|PMID:18835800|PMID:18996862|PMID:19454374|PMID:19938129|PMID:20386986|PMID:21575371|PMID:21629566|PMID:21659346|PMID:22899091|PMID:23046672|PMID:23810759|PMID:24385852|PMID:24565827|PMID:24745989|PMID:25741868|PMID:25804016|PMID:25881301|PMID:25982172|PMID:27066451|PMID:27848944|PMID:28224733|PMID:28224773|PMID:28394482|PMID:28492532|PMID:28685844|PMID:29119402|PMID:29515247|PMID:29549044|PMID:30951856|PMID:30956637|PMID:31508908|PMID:31587472|PMID:31617422|PMID:32005221|PMID:32005694|PMID:32300528|PMID:32772503|PMID:33057194|PMID:33083013|PMID:33344388|PMID:33731098|PMID:33834518|PMID:33977030|PMID:34215305|PMID:34485189|PMID:34989216|PMID:35366317|PMID:35834487|PMID:35982159|PMID:37791580|PMID:38087503|PMID:38531056|PMID:38605407|PMID:38733639|PMID:40009380|PMID:9428641|PMID:9536098|PMID:9675154|PMID:9758626|PMID:9781688|PMID:9856496
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:0081331	glycogen storage disease Ic		ISO	RGD:1351082	D	RGD:7240710	20180130	OMIM			
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:0081331	glycogen storage disease Ic		ISO	RGD:1351082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GSD Ic	PMID:21629566|PMID:25741868|PMID:28224733|PMID:28224773|PMID:28492532
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:1115	sarcoma		ISO	RGD:1351082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:1826	epilepsy		ISO	RGD:1351082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:31508908|PMID:33083013|PMID:33977030
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:2355	anemia		ISO	RGD:1351082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: anemia	PMID:25741868
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:2747	glycogen storage disease		ISO	RGD:1351082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glycogen storage disease	PMID:10482962|PMID:10923042|PMID:10940311|PMID:11071391|PMID:12444104|PMID:18835800|PMID:25741868|PMID:28492532|PMID:32374048|PMID:9428641|PMID:9758626
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1351082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:630	genetic disease		ISO	RGD:1351082	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10026167|PMID:10323254|PMID:10482962|PMID:10923042|PMID:10940311|PMID:15953877|PMID:20301489|PMID:22899091|PMID:24033266|PMID:24646511|PMID:25741868|PMID:26913919|PMID:28224773|PMID:28492532|PMID:9758626|PMID:9781688
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:630	genetic disease		ISO	RGD:1351082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1351082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25741868|PMID:28492532|PMID:31508908|PMID:33083013|PMID:33977030
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1351082	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:9002258	Glucose-6-Phosphate Translocase Deficiency		ISO	RGD:1351082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glucose-6-phosphate translocase deficiency	PMID:25741868|PMID:28492532
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1351082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: hepatomegaly	PMID:25741868
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1351082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:62066	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:10567346|REF_RGD_ID:1625641
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:9008385	Vomiting		ISO	RGD:1351082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868|PMID:28492532|PMID:31508908|PMID:33083013|PMID:33977030
8785323	Slc37a4	solute carrier family 37 member 4	gene	DOID:9993	hypoglycemia		ISO	RGD:1351082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:10482962|PMID:10940311|PMID:12444104|PMID:15906092|PMID:18835800|PMID:25741868|PMID:27848944|PMID:28492532|PMID:35834487|PMID:38531056|PMID:38605407|PMID:40009380|PMID:9781688
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:0060058	lymphoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:10534	stomach cancer		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:1115	sarcoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:1324	lung cancer		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:1909	melanoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:3275	thymoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:4362	cervical cancer		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1606811	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606811	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
8785353	Acot9	acyl-CoA thioesterase 9	gene	DOID:9256	colorectal cancer		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
8785400	Lto1	LTO1 maturation factor of ABCE1	gene	DOID:1324	lung cancer		ISO	RGD:1312190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8785400	Lto1	LTO1 maturation factor of ABCE1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785400	Lto1	LTO1 maturation factor of ABCE1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8785400	Lto1	LTO1 maturation factor of ABCE1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8785429	Abra	actin binding Rho activating protein	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1603582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16243910
8785429	Abra	actin binding Rho activating protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8785435	Rnf6	ring finger protein 6	gene	DOID:1324	lung cancer		ISO	RGD:1314509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8785435	Rnf6	ring finger protein 6	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1314509	D	RGD:9068941	20200609	RGD			PMID:12154016|REF_RGD_ID:1599613
8785435	Rnf6	ring finger protein 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8785435	Rnf6	ring finger protein 6	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1314509	D	RGD:7240710	20240207	OMIM			
8785435	Rnf6	ring finger protein 6	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1314509	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC	
8785435	Rnf6	ring finger protein 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8785435	Rnf6	ring finger protein 6	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1314509	D	RGD:9068941	20220331	RGD			PMID:30496760|REF_RGD_ID:151665757
8785435	Rnf6	ring finger protein 6	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:1314509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8785435	Rnf6	ring finger protein 6	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1314509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
8785449	Kbtbd3	kelch repeat and BTB domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8785449	Kbtbd3	kelch repeat and BTB domain containing 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8785449	Kbtbd3	kelch repeat and BTB domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785472	Qrich2	glutamine rich 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8785472	Qrich2	glutamine rich 2	gene	DOID:0111914	spermatogenic failure 35		ISO	RGD:1604772	D	RGD:7240710	20190315	OMIM			
8785472	Qrich2	glutamine rich 2	gene	DOID:0111914	spermatogenic failure 35		ISO	RGD:1604772	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: QRICH2-related condition | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 35 | ClinVar Annotator: match by term: Spermatogenic failure 35 | ClinVar Annotator: match by term: spermatogenic failure 35	PMID:25741868
8785472	Qrich2	glutamine rich 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8785472	Qrich2	glutamine rich 2	gene	DOID:1115	sarcoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8785472	Qrich2	glutamine rich 2	gene	DOID:1324	lung cancer		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8785472	Qrich2	glutamine rich 2	gene	DOID:1909	melanoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8785472	Qrich2	glutamine rich 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8785472	Qrich2	glutamine rich 2	gene	DOID:3275	thymoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8785472	Qrich2	glutamine rich 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8785472	Qrich2	glutamine rich 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8785472	Qrich2	glutamine rich 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8785472	Qrich2	glutamine rich 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785472	Qrich2	glutamine rich 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8785472	Qrich2	glutamine rich 2	gene	DOID:9001513	Asthenozoospermia		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: asthenoteratozoospermia	PMID:30683861|PMID:31110204|PMID:31292949
8785472	Qrich2	glutamine rich 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8785472	Qrich2	glutamine rich 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785472	Qrich2	glutamine rich 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8785472	Qrich2	glutamine rich 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8785512	Bnip3l	BCL2 interacting protein 3 like	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:621354	D	RGD:9068941	20240912	RGD			PMID:34052187|REF_RGD_ID:407532640
8785512	Bnip3l	BCL2 interacting protein 3 like	gene	DOID:11714	gestational diabetes		ISO	RGD:621354	D	RGD:9068941	20200609	RGD			PMID:26512955|REF_RGD_ID:11564338
8785512	Bnip3l	BCL2 interacting protein 3 like	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1549974	D	RGD:9068941	20200609	RGD			PMID:29440992|REF_RGD_ID:13506949
8785512	Bnip3l	BCL2 interacting protein 3 like	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:621354	D	RGD:9068941	20200609	RGD			PMID:15902200|PMID:21029239|REF_RGD_ID:2314138|REF_RGD_ID:9068917
8785512	Bnip3l	BCL2 interacting protein 3 like	gene	DOID:4989	pancreatitis		ISO	RGD:621354	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:14530762|REF_RGD_ID:7483579
8785512	Bnip3l	BCL2 interacting protein 3 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785512	Bnip3l	BCL2 interacting protein 3 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8785512	Bnip3l	BCL2 interacting protein 3 like	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:621354	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:23637053|REF_RGD_ID:11564330
8785512	Bnip3l	BCL2 interacting protein 3 like	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:621354	D	RGD:9068941	20200609	RGD			PMID:23771482|REF_RGD_ID:7483577
8785512	Bnip3l	BCL2 interacting protein 3 like	gene	DOID:9007970	Chronic Cerebral Hypoperfusion		ISO	RGD:621354	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus	PMID:24072673|REF_RGD_ID:10402542
8785522	Clrn1	clarin 1	gene	DOID:0050439	Usher syndrome		ISO	RGD:737108	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:11524702|PMID:15521980|PMID:17407589|PMID:17893653|PMID:19753315|PMID:21675857|PMID:22135276|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:25472526|PMID:25741868|PMID:25743179|PMID:26338283|PMID:27460420|PMID:28224992|PMID:28492532|PMID:29545425|PMID:31097578|PMID:31836858|PMID:31963381|PMID:35481838|PMID:7407589
8785522	Clrn1	clarin 1	gene	DOID:0050439	Usher syndrome		ISO	RGD:737108	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Usher syndrome	PMID:11524702|PMID:15521980|PMID:17407589|PMID:17893653|PMID:19753315|PMID:21675857|PMID:22135276|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:25472526|PMID:25741868|PMID:25743179|PMID:26338283|PMID:27460420|PMID:28224992|PMID:28492532|PMID:29545425|PMID:31097578|PMID:31836858|PMID:31963381|PMID:31964843|PMID:35481838|PMID:7407589
8785522	Clrn1	clarin 1	gene	DOID:0050439	Usher syndrome		ISO	RGD:737108	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Usher syndrome	PMID:11524702|PMID:15521980|PMID:17407589|PMID:17893653|PMID:19753315|PMID:21675857|PMID:22135276|PMID:22952768|PMID:22964989|PMID:23304067|PMID:24033266|PMID:24498627|PMID:25472526|PMID:25741868|PMID:25743179|PMID:26338283|PMID:27460420|PMID:28224992|PMID:28492532|PMID:29545425|PMID:31097578|PMID:31836858|PMID:31963381|PMID:31964843|PMID:35481838|PMID:7407589
8785522	Clrn1	clarin 1	gene	DOID:0050439	Usher syndrome		ISO	RGD:737108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: USHER Syndrome | ClinVar Annotator: match by term: Usher syndrome	PMID:25741868|PMID:31888296|PMID:35651951|PMID:38219857
8785522	Clrn1	clarin 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:737108	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:11524702|PMID:12145752|PMID:19753315|PMID:22681893|PMID:25741868|PMID:27460420|PMID:28492532|PMID:29068140|PMID:30311386|PMID:37734845
8785522	Clrn1	clarin 1	gene	DOID:0110373	retinitis pigmentosa 61		ISO	RGD:737108	D	RGD:7240710	20180130	OMIM			
8785522	Clrn1	clarin 1	gene	DOID:0110373	retinitis pigmentosa 61		ISO	RGD:737108	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 61 | ClinVar Annotator: match by term: Retinitis pigmentosa 61	PMID:11524702|PMID:12145752|PMID:19753315|PMID:21310491|PMID:22681893|PMID:24033266|PMID:24498627|PMID:25741868|PMID:25743179|PMID:27460420|PMID:28492532|PMID:29068140|PMID:30311386|PMID:32037395|PMID:37734845
8785522	Clrn1	clarin 1	gene	DOID:0110828	Usher syndrome type 3		ISO	RGD:737108	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Usher syndrome type 3 | ClinVar Annotator: match by term: Usher syndrome, type 3	PMID:11524702|PMID:12145752|PMID:17407589|PMID:17576681|PMID:17893653|PMID:19753315|PMID:21675857|PMID:22681893|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:25268133|PMID:25356976|PMID:25472526|PMID:25741868|PMID:25743179|PMID:26338283|PMID:27460420|PMID:27610647|PMID:28471114|PMID:28492532|PMID:29068140|PMID:30311386|PMID:31097578|PMID:31213501|PMID:31231422|PMID:31960602|PMID:31964843|PMID:31968401|PMID:33089500|PMID:35481838|PMID:35640668|PMID:37734845|PMID:38056549|PMID:7407589|PMID:9536098
8785522	Clrn1	clarin 1	gene	DOID:0110841	Usher syndrome type 3A		ISO	RGD:737108	D	RGD:7240710	20180130	OMIM			
8785522	Clrn1	clarin 1	gene	DOID:0110841	Usher syndrome type 3A		ISO	RGD:737108	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CLRN1-related condition | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA | ClinVar Annotator: match by term: Usher syndrome type 3A	PMID:11524702|PMID:12080385|PMID:12145752|PMID:15521980|PMID:19753315|PMID:21310491|PMID:22681893|PMID:23304067|PMID:24033266|PMID:24498627|PMID:24596593|PMID:25741868|PMID:27460420|PMID:28041643|PMID:28492532|PMID:29068140|PMID:30311386|PMID:32037395|PMID:37734845
8785522	Clrn1	clarin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:737108	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:18281613|PMID:19423712|PMID:19753315|PMID:20717163|PMID:22787034|PMID:23304067|PMID:24033266|PMID:24498627|PMID:24596593|PMID:25741868|PMID:26180195|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30311386|PMID:30718709
8785522	Clrn1	clarin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:737108	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:17893653|PMID:18281613|PMID:19423712|PMID:19753315|PMID:20717163|PMID:22681893|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:24596593|PMID:25741868|PMID:26180195|PMID:26338283|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30311386|PMID:30718709|PMID:34906470
8785522	Clrn1	clarin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:737108	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:17893653|PMID:18281613|PMID:19423712|PMID:19753315|PMID:20717163|PMID:22135276|PMID:22681893|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:24596593|PMID:25741868|PMID:26180195|PMID:26338283|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30311386|PMID:30718709|PMID:31964843|PMID:34906470
8785522	Clrn1	clarin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:737108	D	RGD:8554872	20250218	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:18281613|PMID:19423712|PMID:19753315|PMID:20717163|PMID:22135276|PMID:22681893|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:24596593|PMID:25741868|PMID:26180195|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30311386|PMID:30718709|PMID:31964843|PMID:34906470
8785522	Clrn1	clarin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:737108	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:11524702|PMID:12145752|PMID:19753315|PMID:22681893|PMID:25741868|PMID:27460420|PMID:28492532|PMID:29068140|PMID:30311386|PMID:30718709|PMID:37734845
8785522	Clrn1	clarin 1	gene	DOID:14702	branchiootorenal syndrome		ISO	RGD:737108	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Melnick-Fraser syndrome	PMID:28492532|PMID:30311386
8785522	Clrn1	clarin 1	gene	DOID:5679	retinal disease		ISO	RGD:737108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:22135276|PMID:25741868|PMID:31964843
8785522	Clrn1	clarin 1	gene	DOID:5723	optic atrophy		ISO	RGD:737108	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:20717163|PMID:24033266|PMID:25741868|PMID:27460420|PMID:30311386
8785522	Clrn1	clarin 1	gene	DOID:630	genetic disease		ISO	RGD:737108	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8785522	Clrn1	clarin 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:737108	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:18281613|PMID:19423712|PMID:19753315|PMID:22787034|PMID:22952768|PMID:24033266|PMID:24498627|PMID:25741868|PMID:26180195|PMID:28041643|PMID:28492532|PMID:31370859
8785522	Clrn1	clarin 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:737108	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:11524702|PMID:12145752|PMID:19753315|PMID:22681893|PMID:25741868|PMID:27460420|PMID:28492532|PMID:29068140|PMID:30311386|PMID:37734845
8785537	Paip2b	poly(A) binding protein interacting protein 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785537	Paip2b	poly(A) binding protein interacting protein 2B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8785537	Paip2b	poly(A) binding protein interacting protein 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785547	Mllt3	MLLT3 super elongation complex subunit	gene	DOID:1115	sarcoma		ISO	RGD:737507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8785547	Mllt3	MLLT3 super elongation complex subunit	gene	DOID:3275	thymoma		ISO	RGD:737507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8785547	Mllt3	MLLT3 super elongation complex subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785547	Mllt3	MLLT3 super elongation complex subunit	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:620940	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:23077601|REF_RGD_ID:9686143
8785547	Mllt3	MLLT3 super elongation complex subunit	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:737507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8785547	Mllt3	MLLT3 super elongation complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785547	Mllt3	MLLT3 super elongation complex subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8785547	Mllt3	MLLT3 super elongation complex subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8785547	Mllt3	MLLT3 super elongation complex subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:737507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8785575	Phyhip	phytanoyl-CoA 2-hydroxylase interacting protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8785575	Phyhip	phytanoyl-CoA 2-hydroxylase interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785587	Jrkl	JRK like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8785587	Jrkl	JRK like	gene	DOID:1115	sarcoma		ISO	RGD:1319078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8785587	Jrkl	JRK like	gene	DOID:3275	thymoma		ISO	RGD:1319078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8785587	Jrkl	JRK like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785592	Ctbp2	C-terminal binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8785592	Ctbp2	C-terminal binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:68535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8785592	Ctbp2	C-terminal binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8785592	Ctbp2	C-terminal binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:68535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8785592	Ctbp2	C-terminal binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:68535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8785592	Ctbp2	C-terminal binding protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:68535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8785592	Ctbp2	C-terminal binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785592	Ctbp2	C-terminal binding protein 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:68535	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18264096
8785592	Ctbp2	C-terminal binding protein 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:68535	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28414304
8785592	Ctbp2	C-terminal binding protein 2	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:68535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary artery atresia	
8785592	Ctbp2	C-terminal binding protein 2	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:68535	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28414304
8785612	Wdr45	WD repeat domain 45	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8785612	Wdr45	WD repeat domain 45	gene	DOID:0050562	West syndrome		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:28554332|PMID:31665836|PMID:33037762
8785612	Wdr45	WD repeat domain 45	gene	DOID:0060230	basal ganglia calcification		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Basal ganglia calcification	PMID:32581362
8785612	Wdr45	WD repeat domain 45	gene	DOID:0070100	oculocutaneous albinism type VII		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albinism, oculocutaneous, type VII	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25363768|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26467025|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28191889|PMID:28492532|PMID:28554332|PMID:31487502|PMID:31785789|PMID:32382396
8785612	Wdr45	WD repeat domain 45	gene	DOID:0110734	neurodegeneration with brain iron accumulation		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iron accumulation in brain | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation	PMID:16199547|PMID:23176820|PMID:23687123|PMID:24368176|PMID:24621584|PMID:25741868|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:28711740
8785612	Wdr45	WD repeat domain 45	gene	DOID:0110739	neurodegeneration with brain iron accumulation 5		ISO	RGD:1348509	D	RGD:7240710	20180130	OMIM			
8785612	Wdr45	WD repeat domain 45	gene	DOID:0110739	neurodegeneration with brain iron accumulation 5		ISO	RGD:1348509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5	PMID:16199547|PMID:17576681|PMID:23176820|PMID:23435086|PMID:23687123|PMID:24368176|PMID:24621584|PMID:24896178|PMID:25263061|PMID:25356899|PMID:25363768|PMID:25533962|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26467025|PMID:26609730|PMID:26633542|PMID:26790960|PMID:27030146|PMID:27652284|PMID:27681470|PMID:28191889|PMID:28492532|PMID:28554332|PMID:28711740|PMID:28878728|PMID:28932395|PMID:29082105|PMID:29171013|PMID:29389947|PMID:29445477|PMID:29681108|PMID:29682453|PMID:29981852|PMID:30455156|PMID:30542205|PMID:30612247|PMID:30713893|PMID:31293896|PMID:31332960|PMID:31487502|PMID:31665836|PMID:31785789|PMID:32307390|PMID:32382396|PMID:32387008|PMID:32682237|PMID:33504798|PMID:33843443|PMID:34325486|PMID:34368840|PMID:34906502|PMID:36028527|PMID:36076926|PMID:36751498|PMID:36980980|PMID:38703036|PMID:39467646|PMID:9536098
8785612	Wdr45	WD repeat domain 45	gene	DOID:0111181	familial hemiplegic migraine 1		ISO	RGD:1348509	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1	PMID:25741868
8785612	Wdr45	WD repeat domain 45	gene	DOID:0111443	optic atrophy 2		ISO	RGD:1348509	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Optic atrophy 2	
8785612	Wdr45	WD repeat domain 45	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25741868|PMID:25744623|PMID:26633542|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31665836
8785612	Wdr45	WD repeat domain 45	gene	DOID:10534	stomach cancer		ISO	RGD:1348509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
8785612	Wdr45	WD repeat domain 45	gene	DOID:1059	intellectual disability		ISO	RGD:1348509	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:23176820|PMID:23687123|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25533962|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26467025|PMID:26609730|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:29389947|PMID:29981852|PMID:31487502|PMID:32382396|PMID:32387008|PMID:36980980
8785612	Wdr45	WD repeat domain 45	gene	DOID:10892	hypospadias		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:28492532|PMID:36980980
8785612	Wdr45	WD repeat domain 45	gene	DOID:11782	astigmatism		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:28492532|PMID:36980980
8785612	Wdr45	WD repeat domain 45	gene	DOID:11830	myopia		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
8785612	Wdr45	WD repeat domain 45	gene	DOID:12215	oligohydramnios		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
8785612	Wdr45	WD repeat domain 45	gene	DOID:12849	autistic disorder		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26633542|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:31665836|PMID:32382396|PMID:32581362
8785612	Wdr45	WD repeat domain 45	gene	DOID:13250	diarrhea		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
8785612	Wdr45	WD repeat domain 45	gene	DOID:13934	facial paralysis		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial palsy	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
8785612	Wdr45	WD repeat domain 45	gene	DOID:1826	epilepsy		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:23176820|PMID:23687123|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26633542|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:28932395|PMID:29171013|PMID:29981852|PMID:31487502|PMID:31665836|PMID:32382396|PMID:36980980
8785612	Wdr45	WD repeat domain 45	gene	DOID:1827	generalized epilepsy		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25741868|PMID:25744623|PMID:26633542|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31665836
8785612	Wdr45	WD repeat domain 45	gene	DOID:2030	anxiety disorder		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
8785612	Wdr45	WD repeat domain 45	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	
8785612	Wdr45	WD repeat domain 45	gene	DOID:3070	high grade glioma		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8785612	Wdr45	WD repeat domain 45	gene	DOID:4362	cervical cancer		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8785612	Wdr45	WD repeat domain 45	gene	DOID:480	movement disease		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
8785612	Wdr45	WD repeat domain 45	gene	DOID:535	sleep disorder		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
8785612	Wdr45	WD repeat domain 45	gene	DOID:540	strabismus		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
8785612	Wdr45	WD repeat domain 45	gene	DOID:5723	optic atrophy		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25741868|PMID:25744623|PMID:26633542|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31665836
8785612	Wdr45	WD repeat domain 45	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785612	Wdr45	WD repeat domain 45	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8785612	Wdr45	WD repeat domain 45	gene	DOID:630	genetic disease		ISO	RGD:1348509	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23176820|PMID:23687123|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25363768|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26467025|PMID:26609730|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28191889|PMID:28492532|PMID:28554332|PMID:28932395|PMID:29171013|PMID:29389947|PMID:29981852|PMID:31487502|PMID:31785789|PMID:32382396
8785612	Wdr45	WD repeat domain 45	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8785612	Wdr45	WD repeat domain 45	gene	DOID:8501	fundus dystrophy		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25741868|PMID:25744623|PMID:26633542|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31665836
8785612	Wdr45	WD repeat domain 45	gene	DOID:9000197	Edema		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema	
8785612	Wdr45	WD repeat domain 45	gene	DOID:9000495	Tremor		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
8785612	Wdr45	WD repeat domain 45	gene	DOID:9001581	Constipation		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
8785612	Wdr45	WD repeat domain 45	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	
8785612	Wdr45	WD repeat domain 45	gene	DOID:9003133	Hypertelorism		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
8785612	Wdr45	WD repeat domain 45	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889|PMID:29942082
8785612	Wdr45	WD repeat domain 45	gene	DOID:9004507	Hirsutism		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
8785612	Wdr45	WD repeat domain 45	gene	DOID:9005077	Joint Instability		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
8785612	Wdr45	WD repeat domain 45	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
8785612	Wdr45	WD repeat domain 45	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	
8785612	Wdr45	WD repeat domain 45	gene	DOID:9005616	Micrognathism		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
8785612	Wdr45	WD repeat domain 45	gene	DOID:9005923	CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED		ISO	RGD:1348509	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebral-cerebellar-coloboma syndrome, X-linked	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25741868|PMID:25744623|PMID:26609730|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:29389947|PMID:29981852
8785612	Wdr45	WD repeat domain 45	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:23687123|PMID:25533962|PMID:25741868|PMID:28492532|PMID:32387008
8785612	Wdr45	WD repeat domain 45	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:26467025|PMID:27171548
8785612	Wdr45	WD repeat domain 45	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
8785612	Wdr45	WD repeat domain 45	gene	DOID:9007661	Dwarfism		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:27159028
8785612	Wdr45	WD repeat domain 45	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23176820|PMID:23687123|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741886|PMID:25741887|PMID:25744623|PMID:26633542|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:28932395|PMID:29171013|PMID:29981852|PMID:31487502|PMID:31665836|PMID:32382396
8785612	Wdr45	WD repeat domain 45	gene	DOID:9008421	Epistaxis		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
8785612	Wdr45	WD repeat domain 45	gene	DOID:9008582	Developmental Disease		ISO	RGD:1348509	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8785612	Wdr45	WD repeat domain 45	gene	DOID:936	brain disease		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
8785612	Wdr45	WD repeat domain 45	gene	DOID:9775	diastolic heart failure		ISO	RGD:1348509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
8785612	Wdr45	WD repeat domain 45	gene	DOID:9970	obesity		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
8785655	Klc3	kinesin light chain 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8785655	Klc3	kinesin light chain 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8785655	Klc3	kinesin light chain 3	gene	DOID:10534	stomach cancer		ISO	RGD:1604744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8785655	Klc3	kinesin light chain 3	gene	DOID:1324	lung cancer		ISO	RGD:1604744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8785655	Klc3	kinesin light chain 3	gene	DOID:3275	thymoma		ISO	RGD:1604744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8785655	Klc3	kinesin light chain 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8785655	Klc3	kinesin light chain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785655	Klc3	kinesin light chain 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8785655	Klc3	kinesin light chain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8785691	Hykk	hydroxylysine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8785691	Hykk	hydroxylysine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8785691	Hykk	hydroxylysine kinase	gene	DOID:1909	melanoma		ISO	RGD:1606741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8785691	Hykk	hydroxylysine kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606741	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8785691	Hykk	hydroxylysine kinase	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1606741	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Chronic obstructive pulmonary disease	
8785691	Hykk	hydroxylysine kinase	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1606741	D	RGD:9068941	20260205	RGD		DNA: SNP: :rs8034191	PMID:23299987|REF_RGD_ID:632518348
8785691	Hykk	hydroxylysine kinase	gene	DOID:3275	thymoma		ISO	RGD:1606741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8785691	Hykk	hydroxylysine kinase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8785691	Hykk	hydroxylysine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1606741	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8785691	Hykk	hydroxylysine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785691	Hykk	hydroxylysine kinase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606741	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8785691	Hykk	hydroxylysine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785691	Hykk	hydroxylysine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8785691	Hykk	hydroxylysine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8785708	Nfic	nuclear factor I C	gene	DOID:10534	stomach cancer		ISO	RGD:69148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8785708	Nfic	nuclear factor I C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:69148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8785708	Nfic	nuclear factor I C	gene	DOID:1324	lung cancer		ISO	RGD:69148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8785708	Nfic	nuclear factor I C	gene	DOID:1909	melanoma		ISO	RGD:69148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8785708	Nfic	nuclear factor I C	gene	DOID:4362	cervical cancer		ISO	RGD:69148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8785708	Nfic	nuclear factor I C	gene	DOID:5041	esophageal cancer		ISO	RGD:69148	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8785708	Nfic	nuclear factor I C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785708	Nfic	nuclear factor I C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:69148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8785708	Nfic	nuclear factor I C	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:69148	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
8785708	Nfic	nuclear factor I C	gene	DOID:9003566	Mesothelioma		ISO	RGD:69148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8785708	Nfic	nuclear factor I C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785708	Nfic	nuclear factor I C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:69148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8785719	Gtpbp2	GTP binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8785719	Gtpbp2	GTP binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8785719	Gtpbp2	GTP binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8785719	Gtpbp2	GTP binding protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1314943	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8785719	Gtpbp2	GTP binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8785719	Gtpbp2	GTP binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1314943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8785719	Gtpbp2	GTP binding protein 2	gene	DOID:13580	cholestasis		ISO	RGD:1314943	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
8785719	Gtpbp2	GTP binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8785719	Gtpbp2	GTP binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785719	Gtpbp2	GTP binding protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8785719	Gtpbp2	GTP binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:1314943	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8785719	Gtpbp2	GTP binding protein 2	gene	DOID:9005019	JABERI-ELAHI SYNDROME		ISO	RGD:1314943	D	RGD:7240710	20190315	OMIM			
8785719	Gtpbp2	GTP binding protein 2	gene	DOID:9005019	JABERI-ELAHI SYNDROME		ISO	RGD:1314943	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GTPBP2-related condition | ClinVar Annotator: match by term: JABERI-ELAHI SYNDROME | ClinVar Annotator: match by term: Jaberi-Elahi syndrome	PMID:25741868|PMID:28492532
8785719	Gtpbp2	GTP binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785719	Gtpbp2	GTP binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8785742	Brs3	bombesin receptor subtype 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8785742	Brs3	bombesin receptor subtype 3	gene	DOID:10534	stomach cancer		ISO	RGD:733512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8785742	Brs3	bombesin receptor subtype 3	gene	DOID:10763	hypertension		ISO	RGD:733513	D	RGD:9068941	20200609	RGD			PMID:9367152|REF_RGD_ID:734661
8785742	Brs3	bombesin receptor subtype 3	gene	DOID:5041	esophageal cancer		ISO	RGD:733512	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8785742	Brs3	bombesin receptor subtype 3	gene	DOID:9002916	Hyperphagia		ISO	RGD:733513	D	RGD:9068941	20200609	RGD			PMID:9367152|REF_RGD_ID:734661
8785742	Brs3	bombesin receptor subtype 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785742	Brs3	bombesin receptor subtype 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8785742	Brs3	bombesin receptor subtype 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8785742	Brs3	bombesin receptor subtype 3	gene	DOID:9970	obesity		ISO	RGD:733513	D	RGD:9068941	20200609	RGD			PMID:9367152|REF_RGD_ID:734661
8785749	Csnk1d	casein kinase 1 delta	gene	DOID:0110011	advanced sleep phase syndrome 1		ISO	RGD:733311	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8785749	Csnk1d	casein kinase 1 delta	gene	DOID:0110012	advanced sleep phase syndrome 2		ISO	RGD:733311	D	RGD:7240710	20180130	OMIM			
8785749	Csnk1d	casein kinase 1 delta	gene	DOID:0110012	advanced sleep phase syndrome 2		ISO	RGD:733311	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2	
8785749	Csnk1d	casein kinase 1 delta	gene	DOID:10534	stomach cancer		ISO	RGD:733311	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8785749	Csnk1d	casein kinase 1 delta	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733311	D	RGD:9068941	20200609	RGD		protein:increased expression:CA1 field of hippocampus:	PMID:10514399|REF_RGD_ID:10395229
8785749	Csnk1d	casein kinase 1 delta	gene	DOID:10652	Alzheimer's disease	severity	ISO	RGD:733311	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:brain:	PMID:10814741|REF_RGD_ID:10395230
8785749	Csnk1d	casein kinase 1 delta	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:735980	D	RGD:9068941	20240425	MouseDO		OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312	
8785749	Csnk1d	casein kinase 1 delta	gene	DOID:1909	melanoma		ISO	RGD:733311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8785749	Csnk1d	casein kinase 1 delta	gene	DOID:219	colon cancer		ISO	RGD:733311	D	RGD:9068941	20250222	RGD		mRNA:increased expression:colon	PMID:33754069|REF_RGD_ID:597811020
8785749	Csnk1d	casein kinase 1 delta	gene	DOID:3275	thymoma		ISO	RGD:733311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8785749	Csnk1d	casein kinase 1 delta	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8785749	Csnk1d	casein kinase 1 delta	gene	DOID:4362	cervical cancer		ISO	RGD:733311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8785749	Csnk1d	casein kinase 1 delta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785749	Csnk1d	casein kinase 1 delta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8785784	Znf436	zinc finger protein 436	gene	DOID:1909	melanoma		ISO	RGD:1321577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8785784	Znf436	zinc finger protein 436	gene	DOID:4362	cervical cancer		ISO	RGD:1321577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8785784	Znf436	zinc finger protein 436	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8785784	Znf436	zinc finger protein 436	gene	DOID:5041	esophageal cancer		ISO	RGD:1321577	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8785784	Znf436	zinc finger protein 436	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785784	Znf436	zinc finger protein 436	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8785792	Pmaip1	phorbol-12-myristate-13-acetate-induced protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1347426	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8785792	Pmaip1	phorbol-12-myristate-13-acetate-induced protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1347426	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
8785792	Pmaip1	phorbol-12-myristate-13-acetate-induced protein 1	gene	DOID:303	substance-related disorder		ISO	RGD:1347426	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8785792	Pmaip1	phorbol-12-myristate-13-acetate-induced protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347426	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8785792	Pmaip1	phorbol-12-myristate-13-acetate-induced protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785792	Pmaip1	phorbol-12-myristate-13-acetate-induced protein 1	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1347426	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23770605
8785802	Rom1	retinal outer segment membrane protein 1	gene	DOID:0110383	retinitis pigmentosa 7		ISO	RGD:1314474	D	RGD:7240710	20180130	OMIM			
8785802	Rom1	retinal outer segment membrane protein 1	gene	DOID:0110383	retinitis pigmentosa 7		ISO	RGD:1314474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 7, DIGENIC | ClinVar Annotator: match by term: ROM1-related condition	PMID:25741868|PMID:28492532|PMID:8202715
8785802	Rom1	retinal outer segment membrane protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8785802	Rom1	retinal outer segment membrane protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314474	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16799052|PMID:20335603|PMID:24265693|PMID:24938718|PMID:25741868|PMID:28492532|PMID:7904211|PMID:8202715|PMID:8595413|PMID:9187681|PMID:9331261
8785802	Rom1	retinal outer segment membrane protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314474	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16799052|PMID:20335603|PMID:24265693|PMID:24938718|PMID:25741868|PMID:28492532|PMID:33688152|PMID:7904211|PMID:8202715|PMID:8595413|PMID:9187681|PMID:9331261
8785802	Rom1	retinal outer segment membrane protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314474	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16799052|PMID:20335603|PMID:24265693|PMID:24938718|PMID:25741868|PMID:28492532|PMID:33688152|PMID:34148116|PMID:3442652|PMID:35353811|PMID:7904211|PMID:8202715|PMID:8595413|PMID:9187681|PMID:9331261
8785802	Rom1	retinal outer segment membrane protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:24938718|PMID:25741868|PMID:28492532
8785802	Rom1	retinal outer segment membrane protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:24938718|PMID:25741868|PMID:28492532|PMID:31816670|PMID:36819107|PMID:38540785|PMID:8202715|PMID:8595413
8785802	Rom1	retinal outer segment membrane protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8785802	Rom1	retinal outer segment membrane protein 1	gene	DOID:5723	optic atrophy		ISO	RGD:1314474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8785802	Rom1	retinal outer segment membrane protein 1	gene	DOID:8466	retinal degeneration		ISO	RGD:1314475	D	RGD:9068941	20200609	RGD			PMID:10802659|REF_RGD_ID:8553197
8785802	Rom1	retinal outer segment membrane protein 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1314474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11297544|PMID:25741868|PMID:26103963|PMID:28492532|PMID:28912962|PMID:29155698|PMID:30718709|PMID:30820151|PMID:31054281|PMID:34148116|PMID:34426522|PMID:35353811|PMID:8595413|PMID:9331261
8785802	Rom1	retinal outer segment membrane protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785802	Rom1	retinal outer segment membrane protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8785810	Otop2	otopetrin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8785810	Otop2	otopetrin 2	gene	DOID:9849	Meniere's disease		ISO	RGD:1312497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meniere disease	PMID:30311386
8785843	Rgs1	regulator of G protein signaling 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8785843	Rgs1	regulator of G protein signaling 1	gene	DOID:0060058	lymphoma		ISO	RGD:735445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8785843	Rgs1	regulator of G protein signaling 1	gene	DOID:0080600	COVID-19		ISO	RGD:735445	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8785843	Rgs1	regulator of G protein signaling 1	gene	DOID:10534	stomach cancer		ISO	RGD:735445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8785843	Rgs1	regulator of G protein signaling 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:735445	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
8785843	Rgs1	regulator of G protein signaling 1	gene	DOID:3275	thymoma		ISO	RGD:735445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8785843	Rgs1	regulator of G protein signaling 1	gene	DOID:3347	osteosarcoma		ISO	RGD:735445	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14767549
8785843	Rgs1	regulator of G protein signaling 1	gene	DOID:37	skin disease		ISO	RGD:735445	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8785843	Rgs1	regulator of G protein signaling 1	gene	DOID:5041	esophageal cancer		ISO	RGD:735445	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8785843	Rgs1	regulator of G protein signaling 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785843	Rgs1	regulator of G protein signaling 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785843	Rgs1	regulator of G protein signaling 1	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:735445	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8785843	Rgs1	regulator of G protein signaling 1	gene	DOID:9008331	Tendon Injuries	treatment	ISO	RGD:3561	D	RGD:9068941	20200609	RGD			PMID:23519232|REF_RGD_ID:10395300
8785852	Dnajb1	DnaJ heat shock protein family (Hsp40) member B1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8785852	Dnajb1	DnaJ heat shock protein family (Hsp40) member B1	gene	DOID:4362	cervical cancer		ISO	RGD:1312336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8785852	Dnajb1	DnaJ heat shock protein family (Hsp40) member B1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312336	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8785852	Dnajb1	DnaJ heat shock protein family (Hsp40) member B1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8785864	Ms4a12	membrane spanning 4-domains A12	gene	DOID:1115	sarcoma		ISO	RGD:1316189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8785865	Rasd1	ras related dexamethasone induced 1	gene	DOID:1324	lung cancer		ISO	RGD:731548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8785865	Rasd1	ras related dexamethasone induced 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8785865	Rasd1	ras related dexamethasone induced 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:731548	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8785865	Rasd1	ras related dexamethasone induced 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8785871	Ppfia1	PPFI scaffold protein A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8785871	Ppfia1	PPFI scaffold protein A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8785871	Ppfia1	PPFI scaffold protein A1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8785871	Ppfia1	PPFI scaffold protein A1	gene	DOID:1909	melanoma		ISO	RGD:1319111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8785871	Ppfia1	PPFI scaffold protein A1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8785871	Ppfia1	PPFI scaffold protein A1	gene	DOID:4362	cervical cancer		ISO	RGD:1319111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8785871	Ppfia1	PPFI scaffold protein A1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8785871	Ppfia1	PPFI scaffold protein A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8785871	Ppfia1	PPFI scaffold protein A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785871	Ppfia1	PPFI scaffold protein A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785871	Ppfia1	PPFI scaffold protein A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8785913	Slitrk4	SLIT and NTRK like family member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8785913	Slitrk4	SLIT and NTRK like family member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8785913	Slitrk4	SLIT and NTRK like family member 4	gene	DOID:0080600	COVID-19		ISO	RGD:1348582	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8785913	Slitrk4	SLIT and NTRK like family member 4	gene	DOID:1115	sarcoma		ISO	RGD:1348582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8785913	Slitrk4	SLIT and NTRK like family member 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1348582	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8785913	Slitrk4	SLIT and NTRK like family member 4	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1348582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8785913	Slitrk4	SLIT and NTRK like family member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785913	Slitrk4	SLIT and NTRK like family member 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1348582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8785913	Slitrk4	SLIT and NTRK like family member 4	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1348582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
8785922	Adam29	ADAM metallopeptidase domain 29	gene	DOID:3070	high grade glioma		ISO	RGD:1342886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8785922	Adam29	ADAM metallopeptidase domain 29	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785931	Pml	PML nuclear body scaffold	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1345145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25811541
8785931	Pml	PML nuclear body scaffold	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1345145	D	RGD:9068941	20210205	RGD		human PML/RARA gene fusion in a mouse model	PMID:9122233|REF_RGD_ID:41404695
8785931	Pml	PML nuclear body scaffold	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1345145	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:10742073|PMID:14706140|PMID:16788101|PMID:16835227|PMID:16891316|PMID:16935935|PMID:17294898|PMID:17649720|PMID:19029980|PMID:19035177|PMID:19884644|PMID:19887701|PMID:21345080|PMID:21613260|PMID:22213200|PMID:23208507|PMID:23734343|PMID:26285909|PMID:26728337|PMID:32882258|PMID:32929351|PMID:8616088
8785931	Pml	PML nuclear body scaffold	gene	DOID:10591	pre-eclampsia		ISO	RGD:1345145	D	RGD:9068941	20210205	RGD		mRNA:decreased expression:placenta (human)	PMID:20228380|REF_RGD_ID:41404689
8785931	Pml	PML nuclear body scaffold	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8785931	Pml	PML nuclear body scaffold	gene	DOID:1115	sarcoma		ISO	RGD:1345145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8785931	Pml	PML nuclear body scaffold	gene	DOID:1324	lung cancer		ISO	RGD:1345145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8785931	Pml	PML nuclear body scaffold	gene	DOID:1324	lung cancer	ameliorates	ISO	RGD:1557220	D	RGD:9068941	20210205	RGD			PMID:25486572|REF_RGD_ID:41404692
8785931	Pml	PML nuclear body scaffold	gene	DOID:1909	melanoma		ISO	RGD:1345145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8785931	Pml	PML nuclear body scaffold	gene	DOID:3068	glioblastoma		ISO	RGD:1345145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23440206
8785931	Pml	PML nuclear body scaffold	gene	DOID:3275	thymoma		ISO	RGD:1345145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8785931	Pml	PML nuclear body scaffold	gene	DOID:4159	skin cancer	severity	ISO	RGD:1345145	D	RGD:9068941	20210205	RGD		human gene in a mouse model	PMID:19058256|REF_RGD_ID:41404688
8785931	Pml	PML nuclear body scaffold	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345145	D	RGD:9068941	20210205	RGD		protein:decreased expression:kidney (human)	PMID:25293974|REF_RGD_ID:41404694
8785931	Pml	PML nuclear body scaffold	gene	DOID:5408	Paget disease of bone		ISO	RGD:1345145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21623375
8785931	Pml	PML nuclear body scaffold	gene	DOID:5419	schizophrenia		ISO	RGD:1345145	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
8785931	Pml	PML nuclear body scaffold	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785931	Pml	PML nuclear body scaffold	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1557220	D	RGD:9068941	20210205	RGD		mRNA:increased expression:liver (mouse)	PMID:26118777|REF_RGD_ID:41404690
8785931	Pml	PML nuclear body scaffold	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1345145	D	RGD:9068941	20210205	RGD		protein:increased expression:liver (human)	PMID:11511788|REF_RGD_ID:41404685
8785931	Pml	PML nuclear body scaffold	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1557220	D	RGD:9068941	20210205	RGD		associated with hepatitis C	PMID:31144474|REF_RGD_ID:41404687
8785931	Pml	PML nuclear body scaffold	gene	DOID:9000645	Rotavirus Infections		ISO	RGD:1345145	D	RGD:9068941	20210205	RGD		associated with gastroenteritis;mRNA:decreased expression:blood (human)	PMID:31677607|REF_RGD_ID:41404693
8785931	Pml	PML nuclear body scaffold	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1345145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29335545
8785931	Pml	PML nuclear body scaffold	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1345145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20377131
8785931	Pml	PML nuclear body scaffold	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1345145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29335545
8785931	Pml	PML nuclear body scaffold	gene	DOID:9003370	Dyslipidemias		ISO	RGD:1345145	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:32929351
8785931	Pml	PML nuclear body scaffold	gene	DOID:9005715	Neoplasms, Second Primary		ISO	RGD:1345145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19884644
8785931	Pml	PML nuclear body scaffold	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785931	Pml	PML nuclear body scaffold	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8785931	Pml	PML nuclear body scaffold	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8785931	Pml	PML nuclear body scaffold	gene	DOID:9538	multiple myeloma	severity	ISO	RGD:1345145	D	RGD:9068941	20210205	RGD		protein:increased expression:bone marrow (human)	PMID:22906876|REF_RGD_ID:41404686
8785958	Wdr13	WD repeat domain 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8785958	Wdr13	WD repeat domain 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8785958	Wdr13	WD repeat domain 13	gene	DOID:10485	esophageal atresia		ISO	RGD:1347566	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
8785958	Wdr13	WD repeat domain 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8785958	Wdr13	WD repeat domain 13	gene	DOID:1909	melanoma		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8785958	Wdr13	WD repeat domain 13	gene	DOID:4362	cervical cancer		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8785958	Wdr13	WD repeat domain 13	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8785958	Wdr13	WD repeat domain 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785958	Wdr13	WD repeat domain 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8785958	Wdr13	WD repeat domain 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785975	Txndc12	thioredoxin domain containing 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8785975	Txndc12	thioredoxin domain containing 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8785975	Txndc12	thioredoxin domain containing 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8785975	Txndc12	thioredoxin domain containing 12	gene	DOID:3070	high grade glioma		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8785975	Txndc12	thioredoxin domain containing 12	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8785975	Txndc12	thioredoxin domain containing 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1606291	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8785975	Txndc12	thioredoxin domain containing 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785975	Txndc12	thioredoxin domain containing 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8785975	Txndc12	thioredoxin domain containing 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8785989	Pabpc4	poly(A) binding protein cytoplasmic 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8785989	Pabpc4	poly(A) binding protein cytoplasmic 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8785989	Pabpc4	poly(A) binding protein cytoplasmic 4	gene	DOID:3275	thymoma		ISO	RGD:1312792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8785989	Pabpc4	poly(A) binding protein cytoplasmic 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1312792	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8785989	Pabpc4	poly(A) binding protein cytoplasmic 4	gene	DOID:4362	cervical cancer		ISO	RGD:1312792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8785989	Pabpc4	poly(A) binding protein cytoplasmic 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8785989	Pabpc4	poly(A) binding protein cytoplasmic 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8785989	Pabpc4	poly(A) binding protein cytoplasmic 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8785989	Pabpc4	poly(A) binding protein cytoplasmic 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8785989	Pabpc4	poly(A) binding protein cytoplasmic 4	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1312792	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8785989	Pabpc4	poly(A) binding protein cytoplasmic 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8785989	Pabpc4	poly(A) binding protein cytoplasmic 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8786033	Cops7a	COP9 signalosome subunit 7A	gene	DOID:4362	cervical cancer		ISO	RGD:1320761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8786033	Cops7a	COP9 signalosome subunit 7A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8786033	Cops7a	COP9 signalosome subunit 7A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786033	Cops7a	COP9 signalosome subunit 7A	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1320761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8786033	Cops7a	COP9 signalosome subunit 7A	gene	DOID:9000918	Disease Progression		ISO	RGD:1320761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8786033	Cops7a	COP9 signalosome subunit 7A	gene	DOID:9003566	Mesothelioma		ISO	RGD:1320761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8786033	Cops7a	COP9 signalosome subunit 7A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8786056	Sclt1	sodium channel and clathrin linker 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8786056	Sclt1	sodium channel and clathrin linker 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8786056	Sclt1	sodium channel and clathrin linker 1	gene	DOID:0060340	ciliopathy		ISO	RGD:1617550	D	RGD:9068941	20220825	MouseDO			
8786056	Sclt1	sodium channel and clathrin linker 1	gene	DOID:0060382	orofaciodigital syndrome IX		ISO	RGD:731355	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Orofaciodigital syndrome IX	
8786056	Sclt1	sodium channel and clathrin linker 1	gene	DOID:0080171	esophageal atresia/tracheoesophageal fistula		ISO	RGD:731355	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA	PMID:25741868|PMID:28492532
8786056	Sclt1	sodium channel and clathrin linker 1	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1617550	D	RGD:9068941	20220825	MouseDO		OMIM:263200	
8786056	Sclt1	sodium channel and clathrin linker 1	gene	DOID:11782	astigmatism		ISO	RGD:731355	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Astigmatism	
8786056	Sclt1	sodium channel and clathrin linker 1	gene	DOID:1909	melanoma		ISO	RGD:731355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8786056	Sclt1	sodium channel and clathrin linker 1	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:731355	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl Syndrome	PMID:25741868
8786056	Sclt1	sodium channel and clathrin linker 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8786056	Sclt1	sodium channel and clathrin linker 1	gene	DOID:3275	thymoma		ISO	RGD:731355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8786056	Sclt1	sodium channel and clathrin linker 1	gene	DOID:4362	cervical cancer		ISO	RGD:731355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8786056	Sclt1	sodium channel and clathrin linker 1	gene	DOID:5041	esophageal cancer		ISO	RGD:731355	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8786056	Sclt1	sodium channel and clathrin linker 1	gene	DOID:5723	optic atrophy		ISO	RGD:731355	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8786056	Sclt1	sodium channel and clathrin linker 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786056	Sclt1	sodium channel and clathrin linker 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8786056	Sclt1	sodium channel and clathrin linker 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8786056	Sclt1	sodium channel and clathrin linker 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:731355	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:25741868|PMID:28005958|PMID:28492532|PMID:37644014|PMID:40470183
8786056	Sclt1	sodium channel and clathrin linker 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8786056	Sclt1	sodium channel and clathrin linker 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8786056	Sclt1	sodium channel and clathrin linker 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8786096	Cenpp	centromere protein P	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8786096	Cenpp	centromere protein P	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8786096	Cenpp	centromere protein P	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8786096	Cenpp	centromere protein P	gene	DOID:1324	lung cancer		ISO	RGD:1603809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8786096	Cenpp	centromere protein P	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8786096	Cenpp	centromere protein P	gene	DOID:4362	cervical cancer		ISO	RGD:1603809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8786096	Cenpp	centromere protein P	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8786096	Cenpp	centromere protein P	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8786096	Cenpp	centromere protein P	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1316898	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: congenital hypothyroidism	PMID:12706724|PMID:1386607|PMID:1531140|PMID:17237499|PMID:21150067|PMID:22789865|PMID:23127958|PMID:23158871|PMID:23886397|PMID:24263030|PMID:25736553|PMID:25741868|PMID:26769462|PMID:28492532|PMID:29448188|PMID:31847883|PMID:7557963
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:0080600	COVID-19		ISO	RGD:1316898	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:1059	intellectual disability		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:28492532
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:11162	respiratory failure		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1316898	D	RGD:9068941	20200609	RGD		DNA,protein:point_mutations:CDS:compound heterozygosity for A619G/I207V and A1367C/Y456S	PMID:1720305|REF_RGD_ID:1599424
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:1826	epilepsy		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:1891	optic nerve disease		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868|PMID:28492532
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:1969	cerebral palsy		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:28492532
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:2234	focal epilepsy		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:28492532
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:2394	ovarian cancer		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:3021	acute kidney failure		ISO	RGD:1316898	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22005293
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:3323	Sandhoff disease		ISO	RGD:1316898	D	RGD:7240710	20180130	OMIM			
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:3323	Sandhoff disease		ISO	RGD:1316898	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: GM2 gangliosidosis, type 2 | ClinVar Annotator: match by term: Sandhoff disease | ClinVar Annotator: match by term: Sandhoff disease, chronic | ClinVar Annotator: match by term: Sandhoff-Jatzkewitz-Pilz disease	PMID:10724|PMID:10982028|PMID:11329289|PMID:11897243|PMID:12027830|PMID:12166653|PMID:12706724|PMID:1386607|PMID:14724290|PMID:1487253|PMID:1531140|PMID:1532910|PMID:16169011|PMID:16199547|PMID:17015493|PMID:1720305|PMID:1723749|PMID:17237499|PMID:17576681|PMID:18758829|PMID:19595619|PMID:1975561|PMID:19763152|PMID:19823769|PMID:19898952|PMID:20307669|PMID:20798201|PMID:20926324|PMID:21150067|PMID:2139865|PMID:2147027|PMID:2147031|PMID:21483992|PMID:21567908|PMID:2170400|PMID:22191674|PMID:22406018|PMID:22789865|PMID:22848519|PMID:23010210|PMID:23046579|PMID:23113155|PMID:23127958|PMID:23158871|PMID:23418865|PMID:23759947|PMID:24022928|PMID:24033266|PMID:24082139|PMID:24263030|PMID:24356898|PMID:24461908|PMID:24503148|PMID:24613245|PMID:24915922|PMID:2522450|PMID:25525159|PMID:25640679|PMID:25736553|PMID:25741868|PMID:25741905|PMID:26582265|PMID:27021291|PMID:27142713|PMID:27435318|PMID:27629047|PMID:27682710|PMID:27697305|PMID:28281504|PMID:28476546|PMID:28492532|PMID:28895707|PMID:2921040|PMID:29448188|PMID:29451896|PMID:2948136|PMID:2973515|PMID:30065954|PMID:30075786|PMID:3014997|PMID:30548430|PMID:31319225|PMID:31367523|PMID:3156493|PMID:31589614|PMID:31852446|PMID:31974414|PMID:31995250|PMID:32036093|PMID:32860008|PMID:33176815|PMID:33407268|PMID:33673364|PMID:33742171|PMID:33824075|PMID:34210542|PMID:34226107|PMID:34856081|PMID:35186388|PMID:35711818|PMID:36407556|PMID:36628841|PMID:571983|PMID:7550345|PMID:7557963|PMID:7633435|PMID:8045559|PMID:8076944|PMID:8106452|PMID:8162015|PMID:8357844|PMID:8593535|PMID:868875|PMID:8950198|PMID:9401004|PMID:9475608|PMID:9536098|PMID:9562328|PMID:9694901
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:3323	Sandhoff disease		ISO	RGD:1316898	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HEXB-related condition | ClinVar Annotator: match by term: SANDHOFF DISEASE | ClinVar Annotator: match by term: SANDHOFF DISEASE, ADULT | ClinVar Annotator: match by term: Sandhoff disease | ClinVar Annotator: match by term: Sandhoff-Jatzkewitz-Pilz disease	PMID:11329289|PMID:11897243|PMID:12027830|PMID:12166653|PMID:1390948|PMID:14724290|PMID:1532910|PMID:16199547|PMID:17015493|PMID:1720305|PMID:1723749|PMID:17237499|PMID:17576681|PMID:18758829|PMID:18930675|PMID:19595619|PMID:19763152|PMID:19823769|PMID:19898952|PMID:20307669|PMID:20798201|PMID:20926324|PMID:2147031|PMID:21483992|PMID:21567908|PMID:2170400|PMID:22406018|PMID:22789865|PMID:22848519|PMID:23010210|PMID:23046579|PMID:23113155|PMID:23127958|PMID:23158871|PMID:23418865|PMID:23759947|PMID:24022928|PMID:24356898|PMID:24461908|PMID:24503148|PMID:24613245|PMID:24915922|PMID:2522450|PMID:25525159|PMID:25640679|PMID:25736553|PMID:25741868|PMID:26582265|PMID:26769462|PMID:27021291|PMID:27142713|PMID:27391121|PMID:27435318|PMID:27682710|PMID:27697305|PMID:28281504|PMID:28476546|PMID:28492532|PMID:28895707|PMID:2921040|PMID:29448188|PMID:29451896|PMID:30065954|PMID:30075786|PMID:30548430|PMID:30712135|PMID:31319225|PMID:31367523|PMID:31428437|PMID:31515793|PMID:31589614|PMID:31852446|PMID:31919734|PMID:31995250|PMID:32036093|PMID:32860008|PMID:33176815|PMID:33407268|PMID:33547378|PMID:33673364|PMID:33742171|PMID:33824075|PMID:34210542|PMID:34554397|PMID:35186388|PMID:35568357|PMID:35711818|PMID:36194207|PMID:36407556|PMID:36628841|PMID:36709536|PMID:36964972|PMID:37327298|PMID:37344817|PMID:37597066|PMID:38730490|PMID:7550345|PMID:7557963|PMID:7633435|PMID:8076944|PMID:8106452|PMID:8162015|PMID:8357844|PMID:8950198|PMID:9475608|PMID:9536098|PMID:9562328|PMID:9694901
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:4362	cervical cancer		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:5723	optic atrophy		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:630	genetic disease		ISO	RGD:1316898	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17015493|PMID:19595619|PMID:20798201|PMID:2147031|PMID:2170400|PMID:22789865|PMID:24915922|PMID:2522450|PMID:25741868|PMID:27021291|PMID:28492532|PMID:37344817
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:9000052	Breech Presentation		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breech presentation	PMID:25741868|PMID:28492532
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1316898	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:18758829|PMID:19823769|PMID:21483992|PMID:23010210|PMID:23046579|PMID:24613245|PMID:25741868|PMID:26582265|PMID:28492532|PMID:29448188|PMID:7550345|PMID:8162015
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:9002051	Sandhoff Disease, Juvenile Type		ISO	RGD:1316898	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sandhoff disease, juvenile type	PMID:17015493|PMID:20798201|PMID:2147031|PMID:2170400|PMID:22789865|PMID:24915922|PMID:2522450|PMID:25741868|PMID:27021291|PMID:28492532|PMID:37344817
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:9003816	Macrocephaly		ISO	RGD:1316898	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:18758829|PMID:19823769|PMID:21483992|PMID:23010210|PMID:23046579|PMID:24613245|PMID:25741868|PMID:26582265|PMID:28492532|PMID:29448188|PMID:7550345|PMID:8162015
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:9003926	Sandhoff Disease, Infantile Type		ISO	RGD:1316898	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SANDHOFF DISEASE, INFANTILE | ClinVar Annotator: match by term: SANDHOFF DISEASE, INFANTILE TYPE	PMID:18758829|PMID:28492532|PMID:7550345|PMID:8045559
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316898	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:16199547|PMID:18758829|PMID:19823769|PMID:21483992|PMID:23010210|PMID:23046579|PMID:24613245|PMID:25741868|PMID:26582265|PMID:28492532|PMID:29448188|PMID:7550345|PMID:8162015
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:9007105	Hyperemesis Gravidarum		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperemesis gravidarum	PMID:25741868|PMID:28492532
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:9007736	Vertigo		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316898	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16199547|PMID:18758829|PMID:19823769|PMID:21483992|PMID:23010210|PMID:23046579|PMID:24613245|PMID:25741868|PMID:26582265|PMID:28492532|PMID:29448188|PMID:7550345|PMID:8162015
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8786114	Hexb	hexosaminidase subunit beta	gene	DOID:936	brain disease		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:28492532
8786131	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8786131	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:0070491	mitochondrial complex IV deficiency nuclear type 1		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1	PMID:25741868|PMID:28492532|PMID:39214134
8786131	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:0070493	mitochondrial complex IV deficiency nuclear type 4		ISO	RGD:1344696	D	RGD:7240710	20201111	OMIM			
8786131	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:0070493	mitochondrial complex IV deficiency nuclear type 4		ISO	RGD:1344696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 4 | ClinVar Annotator: match by term: SCO1-related condition	PMID:11013136|PMID:23878101|PMID:25741868|PMID:28492532
8786131	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:114	heart disease		ISO	RGD:1344696	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23345593
8786131	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:1324	lung cancer		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8786131	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:3275	thymoma		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8786131	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:3652	Leigh disease		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8786131	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISO	RGD:1344696	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	
8786131	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISO	RGD:1344696	D	RGD:9068941	20260604	RGD			PMID:11013136|REF_RGD_ID:1599513
8786131	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISO	RGD:1617578	D	RGD:9068941	20260604	MouseDO		OMIM:220110	
8786131	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:409	liver disease		ISO	RGD:1344696	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23345593
8786131	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1344696	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8786131	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786131	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:630	genetic disease		ISO	RGD:1344696	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8786131	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1344696	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17182746
8786131	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1344696	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864674
8786131	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8786131	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8786131	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:936	brain disease		ISO	RGD:1344696	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Infantile encephalopathy	PMID:25741868|PMID:28492532
8786141	Tal1	TAL bHLH transcription factor 1, erythroid differentiation factor	gene	DOID:1037	lymphoid leukemia		ISO	RGD:1315544	D	RGD:9068941	20240425	MouseDO			
8786141	Tal1	TAL bHLH transcription factor 1, erythroid differentiation factor	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1315543	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19246562|PMID:24394663
8786141	Tal1	TAL bHLH transcription factor 1, erythroid differentiation factor	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1315543	D	RGD:7240710	20230505	OMIM			
8786141	Tal1	TAL bHLH transcription factor 1, erythroid differentiation factor	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1315543	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: TAL1-related condition	
8786163	Klk8	kallikrein related peptidase 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8786163	Klk8	kallikrein related peptidase 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8786163	Klk8	kallikrein related peptidase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786173	Btf3	basic transcription factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8786173	Btf3	basic transcription factor 3	gene	DOID:0060058	lymphoma		ISO	RGD:1317667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8786173	Btf3	basic transcription factor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1317667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8786173	Btf3	basic transcription factor 3	gene	DOID:1115	sarcoma		ISO	RGD:1317667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8786173	Btf3	basic transcription factor 3	gene	DOID:1324	lung cancer		ISO	RGD:1317667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8786173	Btf3	basic transcription factor 3	gene	DOID:1909	melanoma		ISO	RGD:1317667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8786173	Btf3	basic transcription factor 3	gene	DOID:3275	thymoma		ISO	RGD:1317667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8786173	Btf3	basic transcription factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786173	Btf3	basic transcription factor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8786173	Btf3	basic transcription factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8786173	Btf3	basic transcription factor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8786173	Btf3	basic transcription factor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317667	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8786191	Mrpl40	mitochondrial ribosomal protein L40	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8786191	Mrpl40	mitochondrial ribosomal protein L40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786201	Actr5	actin related protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8786201	Actr5	actin related protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8786201	Actr5	actin related protein 5	gene	DOID:10534	stomach cancer		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8786201	Actr5	actin related protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8786201	Actr5	actin related protein 5	gene	DOID:1909	melanoma		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8786201	Actr5	actin related protein 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8786201	Actr5	actin related protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786201	Actr5	actin related protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8786201	Actr5	actin related protein 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:0110198	Charcot-Marie-Tooth disease recessive intermediate C		ISO	RGD:1603206	D	RGD:7240710	20180130	OMIM			
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:0110198	Charcot-Marie-Tooth disease recessive intermediate C		ISO	RGD:1603206	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, recessive intermediate c	PMID:16199547|PMID:17564964|PMID:17576681|PMID:23777631|PMID:23844677|PMID:25741868|PMID:26392352|PMID:26752306|PMID:28160950|PMID:28166811|PMID:28492532|PMID:31345219|PMID:31589614|PMID:33220101|PMID:34602496|PMID:38112783|PMID:9536098
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:0111213	autosomal recessive distal hereditary motor neuronopathy 4		ISO	RGD:1603206	D	RGD:7240710	20180130	OMIM			
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:0111213	autosomal recessive distal hereditary motor neuronopathy 4		ISO	RGD:1603206	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive lower motor neuron disease with childhood onset | ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 4 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4 | ClinVar Annotator: match by term: PLEKHG5-related condition	PMID:16199547|PMID:17564964|PMID:17576681|PMID:23777631|PMID:25741868|PMID:26392352|PMID:26752306|PMID:28492532|PMID:29177109|PMID:31345219|PMID:31589614|PMID:31827005|PMID:38112783|PMID:9536098
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25741868
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1603206	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:1596	depressive disorder		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:2030	anxiety disorder		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1603206	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:2841	asthma		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:3070	high grade glioma		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:16199547|PMID:17564964|PMID:23777631|PMID:28492532
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:3275	thymoma		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:630	genetic disease		ISO	RGD:1603206	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17564964|PMID:17576681|PMID:23777631|PMID:25741868|PMID:26392352|PMID:26752306|PMID:28492532|PMID:31345219|PMID:31589614|PMID:38112783|PMID:9536098
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9000227	Hypogonadism and Testicular Atrophy		ISO	RGD:1603206	D	RGD:8554872	20230627	ClinVar		ClinVar Annotator: match by term: Testicular atrophy	PMID:25741868|PMID:26392352|PMID:28492532
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9000276	Juvenile Amyotrophic Lateral Sclerosis		ISO	RGD:1603206	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis	PMID:25741868
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9001733	Tinnitus		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:26392352|PMID:28492532
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9003507	Premature Birth		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9004930	Spinal Muscular Atrophy, Facioscapulohumeral Type		ISO	RGD:1603206	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spinal muscular atrophy, facioscapulohumeral type	
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9005077	Joint Instability		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9008023	Memory Disorders		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8786214	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9970	obesity		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
8786245	Smoc2	SPARC related modular calcium binding 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8786245	Smoc2	SPARC related modular calcium binding 2	gene	DOID:0070704	dentin dysplasia type IA		ISO	RGD:1315436	D	RGD:7240710	20180130	OMIM			
8786245	Smoc2	SPARC related modular calcium binding 2	gene	DOID:0070704	dentin dysplasia type IA		ISO	RGD:1315436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE IA | ClinVar Annotator: match by term: Dentin dysplasia type I | ClinVar Annotator: match by term: SMOC2-related condition	PMID:25741868|PMID:28492532
8786245	Smoc2	SPARC related modular calcium binding 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315436	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8786245	Smoc2	SPARC related modular calcium binding 2	gene	DOID:1115	sarcoma		ISO	RGD:1315436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8786245	Smoc2	SPARC related modular calcium binding 2	gene	DOID:1909	melanoma		ISO	RGD:1315436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8786245	Smoc2	SPARC related modular calcium binding 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8786245	Smoc2	SPARC related modular calcium binding 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8786245	Smoc2	SPARC related modular calcium binding 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8786245	Smoc2	SPARC related modular calcium binding 2	gene	DOID:5419	schizophrenia		ISO	RGD:1315436	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8786245	Smoc2	SPARC related modular calcium binding 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8786245	Smoc2	SPARC related modular calcium binding 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315436	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8786245	Smoc2	SPARC related modular calcium binding 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8786245	Smoc2	SPARC related modular calcium binding 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8786271	Eaf1	ELL associated factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8786271	Eaf1	ELL associated factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1320738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8786271	Eaf1	ELL associated factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1320738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8786271	Eaf1	ELL associated factor 1	gene	DOID:1909	melanoma		ISO	RGD:1320738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8786271	Eaf1	ELL associated factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8786271	Eaf1	ELL associated factor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8786271	Eaf1	ELL associated factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8786271	Eaf1	ELL associated factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786271	Eaf1	ELL associated factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8786271	Eaf1	ELL associated factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8786281	Them5	thioesterase superfamily member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786325	Tpr	translocated promoter region, nuclear basket protein	gene	DOID:1059	intellectual disability		ISO	RGD:1321699	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8786325	Tpr	translocated promoter region, nuclear basket protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8786325	Tpr	translocated promoter region, nuclear basket protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1321699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8786325	Tpr	translocated promoter region, nuclear basket protein	gene	DOID:6039	uveal melanoma		ISO	RGD:1321699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8786325	Tpr	translocated promoter region, nuclear basket protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8786325	Tpr	translocated promoter region, nuclear basket protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8786325	Tpr	translocated promoter region, nuclear basket protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8786325	Tpr	translocated promoter region, nuclear basket protein	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1321699	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23811263
8786325	Tpr	translocated promoter region, nuclear basket protein	gene	DOID:9004637	Autosomal Recessive Intellectual Developmental Disorder 79		ISO	RGD:1321699	D	RGD:7240710	20230531	OMIM			
8786325	Tpr	translocated promoter region, nuclear basket protein	gene	DOID:9004637	Autosomal Recessive Intellectual Developmental Disorder 79		ISO	RGD:1321699	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 79	PMID:25741868
8786384	Lnpk	lunapark, ER junction formation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8786384	Lnpk	lunapark, ER junction formation factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8786384	Lnpk	lunapark, ER junction formation factor	gene	DOID:3275	thymoma		ISO	RGD:1323819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8786384	Lnpk	lunapark, ER junction formation factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8786384	Lnpk	lunapark, ER junction formation factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8786384	Lnpk	lunapark, ER junction formation factor	gene	DOID:630	genetic disease		ISO	RGD:1323819	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8786384	Lnpk	lunapark, ER junction formation factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8786384	Lnpk	lunapark, ER junction formation factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8786384	Lnpk	lunapark, ER junction formation factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8786384	Lnpk	lunapark, ER junction formation factor	gene	DOID:9009221	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM		ISO	RGD:1323819	D	RGD:7240710	20190315	OMIM			
8786384	Lnpk	lunapark, ER junction formation factor	gene	DOID:9009221	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM		ISO	RGD:1323819	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LNPK-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM | ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	PMID:25741868|PMID:28492532
8786420	Entpd3	ectonucleoside triphosphate diphosphohydrolase 3	gene	DOID:10283	prostate cancer		ISO	RGD:1346927	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8786420	Entpd3	ectonucleoside triphosphate diphosphohydrolase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:0001816	angiosarcoma		ISO	RGD:732214	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17569031
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:0002116	pterygium		ISO	RGD:732214	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bulbar conjunctiva:	PMID:22801834|REF_RGD_ID:8548457
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:0050580	hereditary lymphedema		ISO	RGD:732215	D	RGD:9068941	20220825	MouseDO		OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907	
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:0070209	hereditary lymphedema ID		ISO	RGD:732214	D	RGD:7240710	20180130	OMIM			
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:732214	D	RGD:9068941	20200609	RGD			PMID:17094484|REF_RGD_ID:2315482
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:1909	melanoma		ISO	RGD:732214	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17562445
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:1936	atherosclerosis		ISO	RGD:732215	D	RGD:9068941	20200609	RGD		associated with hypercholesterolemia;protein:increased expression:serum:	PMID:22206010|REF_RGD_ID:7483588
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:2154	nephroblastoma	disease_progression	ISO	RGD:732214	D	RGD:9068941	20200609	RGD			PMID:17257131|REF_RGD_ID:2315481
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:619800	D	RGD:9068941	20200609	RGD		mRNA:increased expression:colon	PMID:18424890|REF_RGD_ID:2315488
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:732214	D	RGD:9068941	20200609	RGD			PMID:19911196|REF_RGD_ID:2315470
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:3008	invasive ductal carcinoma	disease_progression	ISO	RGD:732214	D	RGD:9068941	20200609	RGD			PMID:19885590|REF_RGD_ID:2315471
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:3113	papillary carcinoma	disease_progression	ISO	RGD:732214	D	RGD:9068941	20200609	RGD		associated with thyroid diseases;mRNA:increased expression:thyroid gland:	PMID:12203051|REF_RGD_ID:7483611
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:3459	breast carcinoma		ISO	RGD:732214	D	RGD:9068941	20200609	RGD			PMID:19382240|REF_RGD_ID:2315477
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:4074	pancreatic adenocarcinoma	exacerbates	ISO	RGD:732214	D	RGD:9068941	20221027	RGD		protein:increased expression:pancreas (human)	PMID:22082308|REF_RGD_ID:155630643
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:4450	renal cell carcinoma		ISO	RGD:732214	D	RGD:9068941	20200609	RGD			PMID:19500329|REF_RGD_ID:2315476
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:5082	liver cirrhosis		ISO	RGD:732214	D	RGD:9068941	20200609	RGD		protein:increased expression:liver:	PMID:18544126|REF_RGD_ID:15003200
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:630	genetic disease		ISO	RGD:732214	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732214	D	RGD:9068941	20200609	RGD		associated with liver cirrhosis; protein:increased expression:liver:	PMID:18544126|REF_RGD_ID:15003200
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:732214	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms	PMID:19923084|REF_RGD_ID:2315469
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:732214	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Transitional Cell;protein:increased expression:urinary bladder	PMID:17034609|REF_RGD_ID:2315484
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:732214	D	RGD:9068941	20200609	RGD		associated with Cervix Neoplasms	PMID:19589137|REF_RGD_ID:2315475
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:732214	D	RGD:9068941	20200609	RGD		associated with Lymphatic Metastasis;	PMID:15289890|REF_RGD_ID:7488946
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:732214	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms	PMID:19608016|REF_RGD_ID:2315474
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:732214	D	RGD:9068941	20200609	RGD		associated with thyroid diseases;mRNA:increased expression:thyroid gland:	PMID:12203051|REF_RGD_ID:7483611
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:9000081	Lymphatic Metastasis	exacerbates	ISO	RGD:732214	D	RGD:9068941	20221027	RGD		associated with pancreatic adenocarcinoma;protein:increased expression:pancreas (human)	PMID:18061373|REF_RGD_ID:155630642
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:9002801	Recurrence		ISO	RGD:732214	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26124351
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:619800	D	RGD:9068941	20200609	RGD			PMID:18704465|REF_RGD_ID:2315487
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:9005873	Tongue Neoplasms	disease_progression	ISO	RGD:732214	D	RGD:9068941	20200609	RGD			PMID:15289890|REF_RGD_ID:7488946
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732214	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18509974|PMID:26124351
8786449	Vegfc	vascular endothelial growth factor C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8786462	LOC102016246	cytochrome c oxidase assembly factor 7	gene	DOID:0070465	autosomal recessive spinocerebellar ataxia with axonal neuropathy 3		ISO	RGD:1606511	D	RGD:7240710	20190515	OMIM			
8786462	LOC102016246	cytochrome c oxidase assembly factor 7	gene	DOID:0070465	autosomal recessive spinocerebellar ataxia with axonal neuropathy 3		ISO	RGD:1606511	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COA7-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	PMID:25741868|PMID:28492532|PMID:29718187
8786462	LOC102016246	cytochrome c oxidase assembly factor 7	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1606511	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8786462	LOC102016246	cytochrome c oxidase assembly factor 7	gene	DOID:630	genetic disease		ISO	RGD:1606511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8786469	Prag1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8786469	Prag1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8786469	Prag1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8786469	Prag1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:1115	sarcoma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8786469	Prag1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:1324	lung cancer		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8786469	Prag1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:1909	melanoma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8786469	Prag1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:3070	high grade glioma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8786469	Prag1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8786469	Prag1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:11554295	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8786469	Prag1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8786469	Prag1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786469	Prag1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8786469	Prag1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8786479	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1605560	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:30763456
8786479	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:0080315	megalencephalic leukoencephalopathy with subcortical cysts		ISO	RGD:1605560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy with swelling and cysts | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts	PMID:25741868|PMID:28492532
8786479	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:0080316	megalencephalic leukoencephalopathy with subcortical cysts 1		ISO	RGD:1605560	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 | ClinVar Annotator: match by term: VAN DER KNAAP DISEASE	PMID:25741868|PMID:28492532
8786479	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:0080317	megalencephalic leukoencephalopathy with subcortical cysts 2B		ISO	RGD:1605560	D	RGD:7240710	20180130	OMIM			
8786479	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:0080317	megalencephalic leukoencephalopathy with subcortical cysts 2B		ISO	RGD:1605560	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability	PMID:21419380|PMID:21624973|PMID:22405205|PMID:23793458|PMID:25044933|PMID:25363768|PMID:25741868|PMID:26402605|PMID:27322623|PMID:27819278|PMID:28191890|PMID:28492532|PMID:28905383|PMID:31372844|PMID:31960914|PMID:34531445|PMID:38487253
8786479	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:0080318	megalencephalic leukoencephalopathy with subcortical cysts 2A		ISO	RGD:1605560	D	RGD:7240710	20180130	OMIM			
8786479	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:0080318	megalencephalic leukoencephalopathy with subcortical cysts 2A		ISO	RGD:1605560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HEPACAM-related condition | ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2A	PMID:21419380|PMID:25044933|PMID:25741868|PMID:28492532|PMID:31960914|PMID:38487253
8786479	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:1059	intellectual disability		ISO	RGD:1605560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8786479	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1605560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
8786479	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:3275	thymoma		ISO	RGD:1605560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8786479	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1605560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8786479	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:630	genetic disease		ISO	RGD:1605560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21419380|PMID:25741868|PMID:28492532|PMID:38487253
8786479	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:720	normocytic anemia		ISO	RGD:1605560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Normocytic anemia	PMID:25741868
8786479	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:9003816	Macrocephaly		ISO	RGD:1605560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:21419380|PMID:25044933|PMID:25741868|PMID:28492532|PMID:31960914
8786479	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:9004866	Ataxia		ISO	RGD:1605560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:29389947
8786494	Crtap	cartilage associated protein	gene	DOID:0110337	osteogenesis imperfecta type 7		ISO	RGD:1320245	D	RGD:7240710	20180130	OMIM			
8786494	Crtap	cartilage associated protein	gene	DOID:0110337	osteogenesis imperfecta type 7		ISO	RGD:1320245	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE VII | ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 | ClinVar Annotator: match by term: Osteogenesis imperfecta, perinatal lethal autosomal recessive | ClinVar Annotator: match by term: osteogenesis imperfecta type 7	PMID:16199547|PMID:17055431|PMID:17192541|PMID:17576681|PMID:18414213|PMID:18566967|PMID:18996919|PMID:19550437|PMID:19846465|PMID:19862557|PMID:21955071|PMID:21964860|PMID:24033266|PMID:24715559|PMID:25604815|PMID:25741868|PMID:26634552|PMID:27509835|PMID:28116328|PMID:28492532|PMID:29150909|PMID:31742715|PMID:32169308|PMID:32922437|PMID:33093841|PMID:34627339|PMID:35186396|PMID:35313637|PMID:9536098
8786494	Crtap	cartilage associated protein	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1320245	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:16199547|PMID:17055431|PMID:17192541|PMID:18996919|PMID:19550437|PMID:24033266|PMID:25741868|PMID:28492532
8786494	Crtap	cartilage associated protein	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1320245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:16199547|PMID:17055431|PMID:18996919|PMID:19550437|PMID:19862557|PMID:24033266|PMID:24715559|PMID:25741868|PMID:26634552|PMID:28492532|PMID:32169308|PMID:35313637
8786494	Crtap	cartilage associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786494	Crtap	cartilage associated protein	gene	DOID:630	genetic disease		ISO	RGD:1320245	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8786494	Crtap	cartilage associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:16199547|PMID:17055431|PMID:18996919|PMID:19550437|PMID:19862557|PMID:24033266|PMID:24715559|PMID:25741868|PMID:28492532
8786494	Crtap	cartilage associated protein	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320245	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8786494	Crtap	cartilage associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8786494	Crtap	cartilage associated protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1320245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16199547|PMID:17055431|PMID:18996919|PMID:19550437|PMID:19862557|PMID:24033266|PMID:24715559|PMID:25741868|PMID:28492532
8786494	Crtap	cartilage associated protein	gene	DOID:9970	obesity		ISO	RGD:1320245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:16199547|PMID:17055431|PMID:18996919|PMID:19550437|PMID:19862557|PMID:24033266|PMID:24715559|PMID:25741868|PMID:28492532
8786506	Tbc1d2	TBC1 domain family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8786506	Tbc1d2	TBC1 domain family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8786506	Tbc1d2	TBC1 domain family member 2	gene	DOID:0080600	COVID-19		ISO	RGD:1315719	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8786506	Tbc1d2	TBC1 domain family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8786506	Tbc1d2	TBC1 domain family member 2	gene	DOID:10941	intracranial aneurysm		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial	PMID:25741868
8786506	Tbc1d2	TBC1 domain family member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8786506	Tbc1d2	TBC1 domain family member 2	gene	DOID:1115	sarcoma		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8786506	Tbc1d2	TBC1 domain family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
8786506	Tbc1d2	TBC1 domain family member 2	gene	DOID:1909	melanoma		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8786506	Tbc1d2	TBC1 domain family member 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8786506	Tbc1d2	TBC1 domain family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315719	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8786506	Tbc1d2	TBC1 domain family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786506	Tbc1d2	TBC1 domain family member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8786506	Tbc1d2	TBC1 domain family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8786506	Tbc1d2	TBC1 domain family member 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
8786506	Tbc1d2	TBC1 domain family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8786506	Tbc1d2	TBC1 domain family member 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8786543	Ebf3	EBF transcription factor 3	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
8786543	Ebf3	EBF transcription factor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8786543	Ebf3	EBF transcription factor 3	gene	DOID:0050591	tooth agenesis		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypodontia	PMID:25741868|PMID:28017370|PMID:28017372
8786543	Ebf3	EBF transcription factor 3	gene	DOID:0050840	cervical dystonia		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	
8786543	Ebf3	EBF transcription factor 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1346410	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8786543	Ebf3	EBF transcription factor 3	gene	DOID:0060135	apraxia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Apraxia	PMID:25741868|PMID:28017370|PMID:28017372
8786543	Ebf3	EBF transcription factor 3	gene	DOID:0070309	absence epilepsy		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Absence seizures	
8786543	Ebf3	EBF transcription factor 3	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868|PMID:28017373|PMID:32637629
8786543	Ebf3	EBF transcription factor 3	gene	DOID:0081176	hypotonia, ataxia, and delayed development syndrome		ISO	RGD:1346410	D	RGD:7240710	20190315	OMIM			
8786543	Ebf3	EBF transcription factor 3	gene	DOID:0081176	hypotonia, ataxia, and delayed development syndrome		ISO	RGD:1346410	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: EBF3-related condition | ClinVar Annotator: match by term: EBF3-related disorder | ClinVar Annotator: match by term: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome	PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:28492532|PMID:29162653|PMID:30577886|PMID:31952901|PMID:32366537|PMID:32581362|PMID:32637629|PMID:33956416|PMID:35340043|PMID:35346031|PMID:36937983|PMID:37090941|PMID:38703036
8786543	Ebf3	EBF transcription factor 3	gene	DOID:0111428	essential tremor 1		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:25741868
8786543	Ebf3	EBF transcription factor 3	gene	DOID:1059	intellectual disability		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28017370|PMID:28017372
8786543	Ebf3	EBF transcription factor 3	gene	DOID:10907	microcephaly		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8786543	Ebf3	EBF transcription factor 3	gene	DOID:10908	hydrocephalus		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28017370|PMID:28017372
8786543	Ebf3	EBF transcription factor 3	gene	DOID:1115	sarcoma		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8786543	Ebf3	EBF transcription factor 3	gene	DOID:11383	cryptorchidism		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:28017370|PMID:28017372
8786543	Ebf3	EBF transcription factor 3	gene	DOID:1143	exotropia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:28017370|PMID:28017372
8786543	Ebf3	EBF transcription factor 3	gene	DOID:11782	astigmatism		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:29162653
8786543	Ebf3	EBF transcription factor 3	gene	DOID:11830	myopia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28017373|PMID:32637629
8786543	Ebf3	EBF transcription factor 3	gene	DOID:12143	neurogenic bladder		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurogenic bladder	PMID:28017373|PMID:32366537
8786543	Ebf3	EBF transcription factor 3	gene	DOID:12215	oligohydramnios		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868|PMID:28017370|PMID:28017372
8786543	Ebf3	EBF transcription factor 3	gene	DOID:12849	autistic disorder		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043
8786543	Ebf3	EBF transcription factor 3	gene	DOID:12849	autistic disorder		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28017370|PMID:28017372
8786543	Ebf3	EBF transcription factor 3	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868
8786543	Ebf3	EBF transcription factor 3	gene	DOID:13501	Moebius syndrome		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum	PMID:25741868|PMID:28017370|PMID:33956416
8786543	Ebf3	EBF transcription factor 3	gene	DOID:13714	anodontia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypodontia	PMID:25741868|PMID:28017370|PMID:28017372
8786543	Ebf3	EBF transcription factor 3	gene	DOID:1909	melanoma		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8786543	Ebf3	EBF transcription factor 3	gene	DOID:3275	thymoma		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8786543	Ebf3	EBF transcription factor 3	gene	DOID:4258	Weissenbacher-Zweymuller syndrome		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate	PMID:25741868|PMID:28017370|PMID:28017372
8786543	Ebf3	EBF transcription factor 3	gene	DOID:540	strabismus		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:29162653|PMID:32637629
8786543	Ebf3	EBF transcription factor 3	gene	DOID:557	kidney disease		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	PMID:28017373|PMID:32366537
8786543	Ebf3	EBF transcription factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786543	Ebf3	EBF transcription factor 3	gene	DOID:630	genetic disease		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19627984|PMID:20300201|PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:29062322|PMID:29162653|PMID:32637629|PMID:33956416|PMID:34177436|PMID:35340043|PMID:36937983
8786543	Ebf3	EBF transcription factor 3	gene	DOID:630	genetic disease		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19627984|PMID:20300201|PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:29062322|PMID:29162653|PMID:32637629|PMID:34177436|PMID:36937983
8786543	Ebf3	EBF transcription factor 3	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28017370|PMID:28017372
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9000495	Tremor		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9001581	Constipation		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9001722	Dysarthria		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:28017370|PMID:28017372
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868|PMID:28017370|PMID:28017372
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28017370|PMID:31952901
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28017373|PMID:32637629
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9004866	Ataxia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Dyssynergia	PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:29162653|PMID:32637629
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9005077	Joint Instability		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:25741868|PMID:28017370|PMID:28017372|PMID:29162653
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868|PMID:28017370|PMID:28017372
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346410	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:20876732|PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:29162653|PMID:32366537|PMID:7796816
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1346410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: walking difficulty	PMID:25741868|PMID:28492532
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9007573	Flatfoot		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28017370|PMID:28017372|PMID:28487885
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pain insensitivity	PMID:25741868|PMID:28017370|PMID:28487885
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28017370|PMID:28017372
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9834	hyperopia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28017373|PMID:32637629
8786543	Ebf3	EBF transcription factor 3	gene	DOID:9840	esotropia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868|PMID:28017370|PMID:28017372
8786586	Vps41	VPS41 subunit of HOPS complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8786586	Vps41	VPS41 subunit of HOPS complex	gene	DOID:0070410	autosomal recessive spinocerebellar ataxia 29		ISO	RGD:1353898	D	RGD:7240710	20210728	OMIM			
8786586	Vps41	VPS41 subunit of HOPS complex	gene	DOID:0070410	autosomal recessive spinocerebellar ataxia 29		ISO	RGD:1353898	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 29	PMID:25741868
8786586	Vps41	VPS41 subunit of HOPS complex	gene	DOID:10534	stomach cancer		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8786586	Vps41	VPS41 subunit of HOPS complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8786586	Vps41	VPS41 subunit of HOPS complex	gene	DOID:1115	sarcoma		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8786586	Vps41	VPS41 subunit of HOPS complex	gene	DOID:1324	lung cancer		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8786586	Vps41	VPS41 subunit of HOPS complex	gene	DOID:1909	melanoma		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8786586	Vps41	VPS41 subunit of HOPS complex	gene	DOID:3275	thymoma		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8786586	Vps41	VPS41 subunit of HOPS complex	gene	DOID:4362	cervical cancer		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8786586	Vps41	VPS41 subunit of HOPS complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786586	Vps41	VPS41 subunit of HOPS complex	gene	DOID:630	genetic disease		ISO	RGD:1353898	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:33764426
8786586	Vps41	VPS41 subunit of HOPS complex	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8786586	Vps41	VPS41 subunit of HOPS complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8786586	Vps41	VPS41 subunit of HOPS complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8786586	Vps41	VPS41 subunit of HOPS complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8786636	Mob1b	MOB kinase activator 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8786636	Mob1b	MOB kinase activator 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1312955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8786636	Mob1b	MOB kinase activator 1B	gene	DOID:1115	sarcoma		ISO	RGD:1312955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8786636	Mob1b	MOB kinase activator 1B	gene	DOID:1324	lung cancer		ISO	RGD:1312955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8786636	Mob1b	MOB kinase activator 1B	gene	DOID:3275	thymoma		ISO	RGD:1312955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8786636	Mob1b	MOB kinase activator 1B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8786636	Mob1b	MOB kinase activator 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786636	Mob1b	MOB kinase activator 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8786646	Kcne4	potassium voltage-gated channel subfamily E regulatory subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8786646	Kcne4	potassium voltage-gated channel subfamily E regulatory subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1346142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8786646	Kcne4	potassium voltage-gated channel subfamily E regulatory subunit 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1346142	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8786646	Kcne4	potassium voltage-gated channel subfamily E regulatory subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786646	Kcne4	potassium voltage-gated channel subfamily E regulatory subunit 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8786653	Fiz1	FLT3 interacting zinc finger 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786653	Fiz1	FLT3 interacting zinc finger 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8786676	Tbc1d4	TBC1 domain family member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8786676	Tbc1d4	TBC1 domain family member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8786676	Tbc1d4	TBC1 domain family member 4	gene	DOID:0060352	Kleefstra syndrome 1		ISO	RGD:1345136	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Kleefstra syndrome 1	
8786676	Tbc1d4	TBC1 domain family member 4	gene	DOID:1115	sarcoma		ISO	RGD:1345136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8786676	Tbc1d4	TBC1 domain family member 4	gene	DOID:1324	lung cancer		ISO	RGD:1345136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8786676	Tbc1d4	TBC1 domain family member 4	gene	DOID:1909	melanoma		ISO	RGD:1345136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8786676	Tbc1d4	TBC1 domain family member 4	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1345136	D	RGD:9068941	20200609	RGD			PMID:19470471|REF_RGD_ID:7248544
8786676	Tbc1d4	TBC1 domain family member 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8786676	Tbc1d4	TBC1 domain family member 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1345136	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8786676	Tbc1d4	TBC1 domain family member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786676	Tbc1d4	TBC1 domain family member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8786676	Tbc1d4	TBC1 domain family member 4	gene	DOID:9005905	Type 2 Diabetes Mellitus 5		ISO	RGD:1345136	D	RGD:7240710	20180130	OMIM			
8786676	Tbc1d4	TBC1 domain family member 4	gene	DOID:9005905	Type 2 Diabetes Mellitus 5		ISO	RGD:1345136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, 5 | ClinVar Annotator: match by term: TBC1D4-related condition	PMID:25741868
8786676	Tbc1d4	TBC1 domain family member 4	gene	DOID:9006828	Congenital Hyperinsulinism		ISO	RGD:1345136	D	RGD:9068941	20200609	RGD			PMID:19470471|REF_RGD_ID:7248544
8786676	Tbc1d4	TBC1 domain family member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8786676	Tbc1d4	TBC1 domain family member 4	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1345136	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Insulin resistance	
8786676	Tbc1d4	TBC1 domain family member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:0050894	ameloblastoma		ISO	RGD:733306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24859340
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:0050902	medulloblastoma		ISO	RGD:735969	D	RGD:9068941	20250109	MouseDO		OMIM:155255	
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:0050902	medulloblastoma	treatment	ISO	RGD:735969	D	RGD:9068941	20211112	RGD			PMID:22084163|REF_RGD_ID:150521622
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:3726	D	RGD:9068941	20211105	RGD			PMID:30537251|REF_RGD_ID:150520178
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:733306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23867347
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:733306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:24651015|PMID:26389418|PMID:27993330|PMID:28726821|PMID:29435664|PMID:33741928|PMID:34409497
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:733306	D	RGD:9068941	20210813	RGD		mRNA:increased expression:liver	PMID:16339184|REF_RGD_ID:150340550
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:733306	D	RGD:9068941	20210813	RGD			PMID:28350784|REF_RGD_ID:150340549
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:735969	D	RGD:9068941	20210813	RGD			PMID:28350784|REF_RGD_ID:150340549
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:10907	microcephaly		ISO	RGD:733306	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:12270	coloboma		ISO	RGD:733306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:1324	lung cancer		ISO	RGD:733306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:733306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25759019|PMID:35101336
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:1793	pancreatic cancer		ISO	RGD:733306	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:19396459|REF_RGD_ID:2324910
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:1793	pancreatic cancer		ISO	RGD:735969	D	RGD:9068941	20200609	RGD			PMID:19460966|REF_RGD_ID:2324978
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:1793	pancreatic cancer	treatment	ISO	RGD:733306	D	RGD:9068941	20210813	RGD			PMID:22859707|REF_RGD_ID:150340554
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:219	colon cancer		ISO	RGD:733306	D	RGD:9068941	20210813	RGD		protein:increased expression:colon	PMID:23098507|REF_RGD_ID:150340555
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:2512	nevoid basal cell carcinoma syndrome		ISO	RGD:733306	D	RGD:9068941	20200609	RGD			PMID:15308259|REF_RGD_ID:12801443
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:2513	basal cell carcinoma		ISO	RGD:733306	D	RGD:7240710	20230505	OMIM			
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:2513	basal cell carcinoma		ISO	RGD:733306	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BASAL CELL CARCINOMA, SOMATIC | ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1	PMID:24651015|PMID:25741868|PMID:25759020|PMID:26389418|PMID:27993330|PMID:28726821|PMID:29435664|PMID:33741928|PMID:34409497|PMID:35101336
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:2513	basal cell carcinoma	disease_progression	ISO	RGD:733306	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin of body	PMID:10504535|REF_RGD_ID:12801453
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:2602	chondroma	treatment	ISO	RGD:735969	D	RGD:9068941	20200609	RGD			PMID:26091072|REF_RGD_ID:12910968
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:3726	D	RGD:9068941	20200609	RGD			PMID:23499832|PMID:23696546|REF_RGD_ID:12832759|REF_RGD_ID:12879404
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:3565	meningioma		ISO	RGD:733306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23334667
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:733306	D	RGD:9068941	20200609	RGD			PMID:16826192|REF_RGD_ID:2324981
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:4362	cervical cancer		ISO	RGD:733306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:4914	esophagus adenocarcinoma	treatment	ISO	RGD:3726	D	RGD:9068941	20210813	RGD			PMID:23108119|REF_RGD_ID:150340553
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:4989	pancreatitis		ISO	RGD:3726	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:20062892|REF_RGD_ID:2324983
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:5082	liver cirrhosis	treatment	ISO	RGD:3726	D	RGD:9068941	20211119	RGD			PMID:22994359|REF_RGD_ID:150521663
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:5593	gastric papillary adenocarcinoma		ISO	RGD:733306	D	RGD:9068941	20210813	RGD		protein:increased expression:stomach	PMID:17259107|REF_RGD_ID:150340552
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:630	genetic disease		ISO	RGD:733306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:6595	gastric tubular adenocarcinoma		ISO	RGD:733306	D	RGD:9068941	20210813	RGD		protein:increased expression:stomach	PMID:17259107|REF_RGD_ID:150340552
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:733306	D	RGD:9068941	20210813	RGD		DNA:SNP: :rs3824 (human)	PMID:25944162|REF_RGD_ID:150340548
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:687	hepatoblastoma		ISO	RGD:733306	D	RGD:9068941	20211112	RGD		protein:increased expression:liver	PMID:21159571|REF_RGD_ID:150521618
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:7474	malignant pleural mesothelioma	disease_progression	ISO	RGD:733306	D	RGD:9068941	20211112	RGD			PMID:23379358|REF_RGD_ID:150521620
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:7474	malignant pleural mesothelioma	disease_progression	ISO	RGD:733306	D	RGD:9068941	20211112	RGD		DNA:missense mutations	PMID:33209614|REF_RGD_ID:150521621
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9000066	Jaw Abnormalities		ISO	RGD:733306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16580747
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:733306	D	RGD:9068941	20211105	RGD		associated with colorectal cancer	PMID:30784110|REF_RGD_ID:150520177
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9000392	Fluoride Poisoning	treatment	ISO	RGD:3726	D	RGD:9068941	20200609	RGD			PMID:24388991|REF_RGD_ID:12879411
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9000438	Subarachnoid Hemorrhage	treatment	ISO	RGD:3726	D	RGD:9068941	20211112	RGD			PMID:28149272|REF_RGD_ID:150521623
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:733306	D	RGD:9068941	20210813	RGD		associated with colon cancer	PMID:23098507|REF_RGD_ID:150340555
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9001441	Adenomatous Polyps		ISO	RGD:735969	D	RGD:9068941	20210813	RGD			PMID:19427313|REF_RGD_ID:150340551
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9002201	Maxillary Neoplasms		ISO	RGD:733306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24859340
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:3726	D	RGD:9068941	20200609	RGD			PMID:25821409|REF_RGD_ID:12879456
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9002904	Primitive Neuroectodermal Tumors		ISO	RGD:733306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9581815
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:733306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9581815
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9005729	Chronic Experimental Pancreatitis		ISO	RGD:3726	D	RGD:9068941	20200609	RGD			PMID:24782623|REF_RGD_ID:12879405
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:733306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374069
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9006151	Choroidal Neovascularization, Experimental	treatment	ISO	RGD:3726	D	RGD:9068941	20200609	RGD			PMID:21063852|REF_RGD_ID:12859045
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9007090	Experimental Seizures		ISO	RGD:3726	D	RGD:9068941	20241214	RGD		mRNA:increased expression:dentate gyrus	PMID:16197497|REF_RGD_ID:2324992
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9007456	Female Infertility		ISO	RGD:733306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28560483
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:733306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9581815
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9007660	Pallister-Hall-like Syndrome		ISO	RGD:733306	D	RGD:7240710	20200812	OMIM			
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9007660	Pallister-Hall-like Syndrome		ISO	RGD:733306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypothalamic hamartoma syndrome | ClinVar Annotator: match by term: PALLISTER-HALL-LIKE SYNDROME	PMID:25741868|PMID:30497210|PMID:32413283
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9007790	Winter Shortland Temple Syndrome		ISO	RGD:733306	D	RGD:7240710	20190315	OMIM			
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9007790	Winter Shortland Temple Syndrome		ISO	RGD:733306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Curry-Jones syndrome	PMID:25741868
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9206	Barrett's esophagus	treatment	ISO	RGD:3726	D	RGD:9068941	20210813	RGD			PMID:23108119|REF_RGD_ID:150340553
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:733306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9256	colorectal cancer		ISO	RGD:733306	D	RGD:9068941	20211105	RGD			PMID:22901214|REF_RGD_ID:150520174
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9282	ocular hypertension		ISO	RGD:3726	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:retinal ganglion cell	PMID:20071678|REF_RGD_ID:2324982
8786703	Smo	smoothened, frizzled class receptor	gene	DOID:9675	pulmonary emphysema		ISO	RGD:735969	D	RGD:9068941	20240425	MouseDO		OMIM:130700	
8786719	Tmem190	transmembrane protein 190	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786719	Tmem190	transmembrane protein 190	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8786719	Tmem190	transmembrane protein 190	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8786730	Cimap3	ciliary microtubule associated protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1604536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8786730	Cimap3	ciliary microtubule associated protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8786730	Cimap3	ciliary microtubule associated protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8786730	Cimap3	ciliary microtubule associated protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1604536	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8786730	Cimap3	ciliary microtubule associated protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786730	Cimap3	ciliary microtubule associated protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8786749	Ctsa	cathepsin A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8786749	Ctsa	cathepsin A	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
8786749	Ctsa	cathepsin A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8786749	Ctsa	cathepsin A	gene	DOID:0061236	brain small vessel disease 6 with leukoencephalopathy		ISO	RGD:1319205	D	RGD:7240710	20251105	OMIM			
8786749	Ctsa	cathepsin A	gene	DOID:0061236	brain small vessel disease 6 with leukoencephalopathy		ISO	RGD:1319205	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 6 WITH LEUKOENCEPHALOPATHY | ClinVar Annotator: match by term: CTSA-related condition	PMID:25741868|PMID:27664989|PMID:28334938|PMID:28492532|PMID:28702507|PMID:35904593
8786749	Ctsa	cathepsin A	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1	PMID:25741868
8786749	Ctsa	cathepsin A	gene	DOID:0070309	absence epilepsy		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868
8786749	Ctsa	cathepsin A	gene	DOID:0080540	galactosialidosis		ISO	RGD:1319205	D	RGD:7240710	20180130	OMIM			
8786749	Ctsa	cathepsin A	gene	DOID:0080540	galactosialidosis		ISO	RGD:1319205	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase | ClinVar Annotator: match by term: GALACTOSIALIDOSIS | ClinVar Annotator: match by term: GALACTOSIALIDOSIS, ADULT | ClinVar Annotator: match by term: GALACTOSIALIDOSIS, EARLY INFANTILE | ClinVar Annotator: match by term: GALACTOSIALIDOSIS, LATE INFANTILE | ClinVar Annotator: match by term: Neuraminidase/beta-galactosidase expression | ClinVar Annotator: match by term: PPCA DEFICIENCY	PMID:10333491|PMID:10571006|PMID:10944848|PMID:12649068|PMID:15110321|PMID:16199547|PMID:16538002|PMID:1756715|PMID:17576681|PMID:18396002|PMID:18937050|PMID:19763152|PMID:20307669|PMID:22386972|PMID:22406018|PMID:23915561|PMID:24767253|PMID:24769197|PMID:24779613|PMID:25075748|PMID:25741868|PMID:26259553|PMID:27848944|PMID:28454995|PMID:28492532|PMID:28603679|PMID:29333829|PMID:29876240|PMID:31044084|PMID:31177426|PMID:32036093|PMID:32774297|PMID:36341164|PMID:8514852|PMID:8968752|PMID:9435242|PMID:9536098|PMID:9603439|PMID:9636645
8786749	Ctsa	cathepsin A	gene	DOID:10376	amblyopia		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868
8786749	Ctsa	cathepsin A	gene	DOID:10534	stomach cancer		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8786749	Ctsa	cathepsin A	gene	DOID:1324	lung cancer		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8786749	Ctsa	cathepsin A	gene	DOID:1826	epilepsy		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8786749	Ctsa	cathepsin A	gene	DOID:1827	generalized epilepsy		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
8786749	Ctsa	cathepsin A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8786749	Ctsa	cathepsin A	gene	DOID:3211	lysosomal storage disease		ISO	RGD:1319205	D	RGD:9068941	20200609	RGD			PMID:8514852|REF_RGD_ID:1599169
8786749	Ctsa	cathepsin A	gene	DOID:3275	thymoma		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8786749	Ctsa	cathepsin A	gene	DOID:4667	kyphosis		ISO	RGD:1319205	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:10944848|PMID:15110321|PMID:23915561|PMID:24769197|PMID:25741868|PMID:28492532|PMID:8968752
8786749	Ctsa	cathepsin A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786749	Ctsa	cathepsin A	gene	DOID:630	genetic disease		ISO	RGD:1319205	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8786749	Ctsa	cathepsin A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8786749	Ctsa	cathepsin A	gene	DOID:8488	polyhydramnios		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:15110321|PMID:23915561|PMID:25741868|PMID:28492532
8786749	Ctsa	cathepsin A	gene	DOID:8986	narcolepsy		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Narcolepsy	PMID:25741868
8786749	Ctsa	cathepsin A	gene	DOID:9000343	Vision Disorders		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
8786749	Ctsa	cathepsin A	gene	DOID:9000495	Tremor		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb tremor	PMID:25741868
8786749	Ctsa	cathepsin A	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868
8786749	Ctsa	cathepsin A	gene	DOID:9002695	Cataplexy		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataplexy	PMID:25741868
8786749	Ctsa	cathepsin A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:27848944|PMID:28454995
8786749	Ctsa	cathepsin A	gene	DOID:9007722	Myoclonus		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868
8786749	Ctsa	cathepsin A	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1319205	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-Immune hydrops fetalis	PMID:26036949
8786768	Btk	Bruton tyrosine kinase	gene	DOID:0040084	Streptococcus pneumonia		ISO	RGD:1551411	D	RGD:9068941	20210326	RGD			PMID:30873567|REF_RGD_ID:124715473
8786768	Btk	Bruton tyrosine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8786768	Btk	Bruton tyrosine kinase	gene	DOID:0050746	mantle cell lymphoma	treatment	ISO	RGD:1342660	D	RGD:9068941	20200609	RGD			PMID:23045577|REF_RGD_ID:11040699
8786768	Btk	Bruton tyrosine kinase	gene	DOID:0050866	oral squamous cell carcinoma	treatment	ISO	RGD:1342660	D	RGD:9068941	20220204	RGD		mRNA:increased expression:oral epithelium (human)	PMID:33640903|REF_RGD_ID:151347851
8786768	Btk	Bruton tyrosine kinase	gene	DOID:0060180	colitis	ameliorates	ISO	RGD:1551411	D	RGD:9068941	20210326	RGD		Associated with candidiasis	PMID:25379804|REF_RGD_ID:124713568
8786768	Btk	Bruton tyrosine kinase	gene	DOID:0060875	isolated growth hormone deficiency type III		ISO	RGD:1342660	D	RGD:7240710	20180130	OMIM			
8786768	Btk	Bruton tyrosine kinase	gene	DOID:0060875	isolated growth hormone deficiency type III		ISO	RGD:1342660	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BTK-related condition | ClinVar Annotator: match by term: Fleisher syndrome | ClinVar Annotator: match by term: Growth hormone deficiency with hypogammaglobulinemia | ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency	PMID:10196129|PMID:10373551|PMID:10612838|PMID:10737994|PMID:10754312|PMID:10844531|PMID:10859027|PMID:10887125|PMID:11027452|PMID:11102316|PMID:11102984|PMID:11206059|PMID:11438999|PMID:11472359|PMID:11555397|PMID:11564824|PMID:11742281|PMID:11892085|PMID:12204007|PMID:12217331|PMID:1240516|PMID:12405164|PMID:12655572|PMID:12768435|PMID:14974089|PMID:15024743|PMID:15082835|PMID:15358621|PMID:15661031|PMID:15661032|PMID:15821893|PMID:16159644|PMID:16199547|PMID:16297664|PMID:16712653|PMID:16729790|PMID:16862044|PMID:16913189|PMID:16943681|PMID:17045652|PMID:17576681|PMID:17765309|PMID:18518992|PMID:18677443|PMID:1880652|PMID:19039656|PMID:19302039|PMID:19419768|PMID:19763152|PMID:19904586|PMID:20301626|PMID:20307669|PMID:20529312|PMID:20721470|PMID:20723125|PMID:21039741|PMID:21397315|PMID:21520333|PMID:22378381|PMID:22406018|PMID:23335184|PMID:23424595|PMID:24001798|PMID:24033266|PMID:24477949|PMID:24586880|PMID:24658450|PMID:24885015|PMID:25270678|PMID:25316352|PMID:25640679|PMID:25741868|PMID:25777788|PMID:26931785|PMID:26960951|PMID:27512878|PMID:27535475|PMID:27593100|PMID:27980540|PMID:28236219|PMID:28359783|PMID:28492532|PMID:29202590|PMID:29424453|PMID:29503650|PMID:29658452|PMID:29709555|PMID:29921932|PMID:30072168|PMID:30240888|PMID:30290665|PMID:30311057|PMID:30564228|PMID:30619340|PMID:30697212|PMID:30882382|PMID:31967259|PMID:32009323|PMID:32067425|PMID:32117230|PMID:32169379|PMID:32441320|PMID:32477911|PMID:32552675|PMID:32888943|PMID:33013854|PMID:33224144|PMID:33225392|PMID:33377626|PMID:33471103|PMID:33584693|PMID:33815962|PMID:34182127|PMID:34262886|PMID:3486747|PMID:35382780|PMID:35482138|PMID:35729272|PMID:36790564|PMID:38046560|PMID:7627183|PMID:7633420|PMID:7633429|PMID:7711734|PMID:7849697|PMID:7849721|PMID:7880320|PMID:7897635|PMID:8013627|PMID:8090769|PMID:8162018|PMID:8162056|PMID:8332900|PMID:8332901|PMID:8562928|PMID:8594569|PMID:8644706|PMID:8695804|PMID:8723128|PMID:8834236|PMID:8851194|PMID:8938104|PMID:8939985|PMID:9106525|PMID:9143921|PMID:9192269|PMID:9260159|PMID:9280283|PMID:9445504|PMID:9536098|PMID:9545398
8786768	Btk	Bruton tyrosine kinase	gene	DOID:0080600	COVID-19		ISO	RGD:1342660	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:32503877
8786768	Btk	Bruton tyrosine kinase	gene	DOID:0080600	COVID-19		ISO	RGD:1342660	D	RGD:9068941	20210326	RGD		protein:increased phosphorylation:blood, monocyte (human)	PMID:32503877|REF_RGD_ID:124713553
8786768	Btk	Bruton tyrosine kinase	gene	DOID:0081136	agammaglobulinemia 1		ISO	RGD:1342660	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT | ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1	PMID:14974089|PMID:15661032|PMID:16862044|PMID:19039656|PMID:19419768|PMID:20301626|PMID:25741868|PMID:27512878|PMID:28492532|PMID:29424453|PMID:29503650|PMID:30072168|PMID:30564228|PMID:32552675|PMID:32888943|PMID:33471103|PMID:35729272|PMID:7849721|PMID:7880320|PMID:8162056|PMID:8695804
8786768	Btk	Bruton tyrosine kinase	gene	DOID:11573	listeriosis	ameliorates	ISO	RGD:1551411	D	RGD:9068941	20210326	RGD			PMID:23544144|REF_RGD_ID:124713555
8786768	Btk	Bruton tyrosine kinase	gene	DOID:12053	cryptococcosis	exacerbates	ISO	RGD:1551411	D	RGD:9068941	20210326	RGD			PMID:23820392|REF_RGD_ID:124715476
8786768	Btk	Bruton tyrosine kinase	gene	DOID:13317	hyperinsulinemic hypoglycemia		ISO	RGD:1342660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia	PMID:11438999|PMID:15661032|PMID:16199547|PMID:16862044|PMID:17765309|PMID:19419768|PMID:20723125|PMID:25741868|PMID:28492532|PMID:8090769
8786768	Btk	Bruton tyrosine kinase	gene	DOID:14179	X-linked agammaglobulinemia		ISO	RGD:1342660	D	RGD:7240710	20180130	OMIM			
8786768	Btk	Bruton tyrosine kinase	gene	DOID:14179	X-linked agammaglobulinemia		ISO	RGD:1342660	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, X-LINKED | ClinVar Annotator: match by term: Bruton-type agammaglobulinemia | ClinVar Annotator: match by term: X-linked Agammaglobulinemia | ClinVar Annotator: match by term: X-linked agammaglobulinemia	PMID:10092645|PMID:10678660|PMID:10737994|PMID:10754312|PMID:10844531|PMID:10887125|PMID:11102984|PMID:11206059|PMID:11410123|PMID:11438999|PMID:11472359|PMID:11527964|PMID:11555397|PMID:11668622|PMID:11742281|PMID:11809909|PMID:12204007|PMID:12217331|PMID:12405164|PMID:12655572|PMID:14974089|PMID:15661032|PMID:15821893|PMID:16053733|PMID:16160918|PMID:16199547|PMID:16712653|PMID:16751014|PMID:16862044|PMID:16913189|PMID:16943681|PMID:16951917|PMID:17045652|PMID:17164954|PMID:17327079|PMID:17765309|PMID:17967562|PMID:18518992|PMID:18677443|PMID:19039656|PMID:19419768|PMID:19904586|PMID:20301626|PMID:20529312|PMID:20723125|PMID:21397315|PMID:23335184|PMID:23424595|PMID:24383975|PMID:24820629|PMID:24885015|PMID:25142992|PMID:25525159|PMID:25741868|PMID:25777788|PMID:26931785|PMID:26981933|PMID:27512878|PMID:27577878|PMID:27980540|PMID:28492532|PMID:29424453|PMID:29503650|PMID:29658452|PMID:30072168|PMID:30240888|PMID:30564228|PMID:30627929|PMID:31803177|PMID:32009323|PMID:32067425|PMID:32552675|PMID:32888943|PMID:33042921|PMID:33471103|PMID:33815962|PMID:34029777|PMID:34182127|PMID:34975878|PMID:35074268|PMID:35729272|PMID:40225173|PMID:7554467|PMID:7633420|PMID:7633429|PMID:7711734|PMID:7809124|PMID:7849697|PMID:7849721|PMID:7880320|PMID:8090769|PMID:8162056|PMID:8164701|PMID:8380905|PMID:8594569|PMID:8644706|PMID:8695804|PMID:8938104|PMID:8939985|PMID:9143921|PMID:9188445|PMID:9445504|PMID:9524120|PMID:9545398|PMID:9880544
8786768	Btk	Bruton tyrosine kinase	gene	DOID:14179	X-linked agammaglobulinemia	ameliorates	ISO	RGD:1342660	D	RGD:9068941	20210326	RGD		Human gene in mouse model	PMID:20574453|REF_RGD_ID:124715475
8786768	Btk	Bruton tyrosine kinase	gene	DOID:14179	X-linked agammaglobulinemia	ameliorates	ISO	RGD:1342660	D	RGD:9068941	20210326	RGD		human gene in a mouse model	PMID:15142874|REF_RGD_ID:124713551
8786768	Btk	Bruton tyrosine kinase	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1342660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336|PMID:9486400
8786768	Btk	Bruton tyrosine kinase	gene	DOID:1556	arthus reaction	treatment	ISO	RGD:1359683	D	RGD:9068941	20200609	RGD			PMID:22228807|REF_RGD_ID:11040701
8786768	Btk	Bruton tyrosine kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342660	D	RGD:9068941	20220204	RGD		mRNA:decreased expression:colon (human)	PMID:31402962|REF_RGD_ID:151347853
8786768	Btk	Bruton tyrosine kinase	gene	DOID:2583	agammaglobulinemia		ISO	RGD:1342660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Agammaglobulinemia	PMID:11438999|PMID:15661032|PMID:16199547|PMID:16862044|PMID:17765309|PMID:19419768|PMID:20723125|PMID:25741868|PMID:28492532|PMID:8090769
8786768	Btk	Bruton tyrosine kinase	gene	DOID:2583	agammaglobulinemia	susceptibility	ISO	RGD:1342660	D	RGD:9068941	20200609	RGD		DNA:insertions, point mutations	PMID:8162018|REF_RGD_ID:1600526
8786768	Btk	Bruton tyrosine kinase	gene	DOID:288	endometriosis of uterus	disease_progression	ISO	RGD:1551411	D	RGD:9068941	20210326	RGD			PMID:31247078|REF_RGD_ID:124715471
8786768	Btk	Bruton tyrosine kinase	gene	DOID:3234	central nervous system lymphoma	ameliorates	ISO	RGD:1342660	D	RGD:9068941	20210326	RGD			PMID:28552327|REF_RGD_ID:124715478
8786768	Btk	Bruton tyrosine kinase	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:1342660	D	RGD:9068941	20220204	RGD		mRNA:increased expression:lung (human)	PMID:32623229|REF_RGD_ID:151347854
8786768	Btk	Bruton tyrosine kinase	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1342660	D	RGD:9068941	20220204	RGD		mRNA:decreased expression:lung (human)	PMID:32351880|REF_RGD_ID:151347848
8786768	Btk	Bruton tyrosine kinase	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1342660	D	RGD:9068941	20220204	RGD		mRNA:decreased expression:lung (human)	PMID:31803536|REF_RGD_ID:151347849
8786768	Btk	Bruton tyrosine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1342660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8786768	Btk	Bruton tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786768	Btk	Bruton tyrosine kinase	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1342660	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:11809909|PMID:12405164|PMID:15661032|PMID:16862044|PMID:17576681|PMID:19419768|PMID:25741868|PMID:28492532|PMID:32499645|PMID:32581362|PMID:7627183|PMID:7849697|PMID:9536098|PMID:9545398
8786768	Btk	Bruton tyrosine kinase	gene	DOID:630	genetic disease		ISO	RGD:1342660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8786768	Btk	Bruton tyrosine kinase	gene	DOID:707	B-cell lymphoma	treatment	ISO	RGD:1342660	D	RGD:9068941	20210326	RGD		human cell in a mouse model	PMID:28348046|REF_RGD_ID:124713554
8786768	Btk	Bruton tyrosine kinase	gene	DOID:707	B-cell lymphoma	treatment	ISO	RGD:1551411	D	RGD:9068941	20200609	RGD			PMID:25662332|REF_RGD_ID:11040764
8786768	Btk	Bruton tyrosine kinase	gene	DOID:8584	Burkitt lymphoma	ameliorates	ISO	RGD:1342660	D	RGD:9068941	20210326	RGD		Human cell line in a mouse model	PMID:30546948|REF_RGD_ID:124715474
8786768	Btk	Bruton tyrosine kinase	gene	DOID:8584	Burkitt lymphoma	treatment	ISO	RGD:1342660	D	RGD:9068941	20210326	RGD		mRNA:increased expression:multiple (human)	PMID:28474336|REF_RGD_ID:124713565
8786768	Btk	Bruton tyrosine kinase	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:1342660	D	RGD:9068941	20220204	RGD		associated with lung adenocarcinoma;protein:increased expression:lung (human)	PMID:31200752|REF_RGD_ID:151347847
8786768	Btk	Bruton tyrosine kinase	gene	DOID:9000371	influenza A	ameliorates	ISO	RGD:1551411	D	RGD:9068941	20210326	RGD		Associated with Acute Lung Injury	PMID:29516781|REF_RGD_ID:124713566
8786768	Btk	Bruton tyrosine kinase	gene	DOID:9000873	Adenoviridae Infections	susceptibility	ISO	RGD:1551411	D	RGD:9068941	20210326	RGD			PMID:15140955|REF_RGD_ID:124713567
8786768	Btk	Bruton tyrosine kinase	gene	DOID:9002106	Pneumococcal Pneumonia	ameliorates	ISO	RGD:1551411	D	RGD:9068941	20210326	RGD			PMID:30646846|REF_RGD_ID:124715470
8786768	Btk	Bruton tyrosine kinase	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	treatment	ISO	RGD:1342660	D	RGD:9068941	20200609	RGD			PMID:23045577|REF_RGD_ID:11040699
8786768	Btk	Bruton tyrosine kinase	gene	DOID:9002395	Hypothermia	exacerbates	ISO	RGD:1323170	D	RGD:9068941	20210326	RGD		Associated with Endotoxemia; with Itk knockout	PMID:26581914|REF_RGD_ID:11533169
8786768	Btk	Bruton tyrosine kinase	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:1359683	D	RGD:9068941	20220311	RGD			PMID:22228807|PMID:32083858|REF_RGD_ID:11040701|REF_RGD_ID:151665122
8786768	Btk	Bruton tyrosine kinase	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:1551411	D	RGD:9068941	20200609	RGD			PMID:22228807|REF_RGD_ID:11040701
8786768	Btk	Bruton tyrosine kinase	gene	DOID:9004143	X-Linked Hypogammaglobulinemia		ISO	RGD:1342660	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA, X-LINKED	
8786768	Btk	Bruton tyrosine kinase	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1342660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:11438999|PMID:15661032|PMID:16199547|PMID:16862044|PMID:17765309|PMID:19419768|PMID:20723125|PMID:25741868|PMID:28492532|PMID:8090769
8786768	Btk	Bruton tyrosine kinase	gene	DOID:9006549	Enterovirus Infections	treatment	ISO	RGD:1551411	D	RGD:9068941	20210326	RGD		Associated with X-linked agammaglobulinemia	PMID:10508272|REF_RGD_ID:124715472
8786768	Btk	Bruton tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:12768435|PMID:15661032|PMID:16199547|PMID:16862044|PMID:19419768|PMID:28492532
8786768	Btk	Bruton tyrosine kinase	gene	DOID:9007278	Anaphylaxis	treatment	ISO	RGD:1359683	D	RGD:9068941	20200609	RGD			PMID:22228807|REF_RGD_ID:11040701
8786768	Btk	Bruton tyrosine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8786768	Btk	Bruton tyrosine kinase	gene	DOID:9065	leishmaniasis	susceptibility	ISO	RGD:1551411	D	RGD:9068941	20210326	RGD			PMID:28783468|REF_RGD_ID:124715477
8786768	Btk	Bruton tyrosine kinase	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1342660	D	RGD:9068941	20220204	RGD		protein:increased expression:colorectum (human)	PMID:31518438|REF_RGD_ID:151347850
8786768	Btk	Bruton tyrosine kinase	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1342660	D	RGD:9068941	20220204	RGD		protein:increased expression:colorectum (human)	PMID:31238520|REF_RGD_ID:151347852
8786768	Btk	Bruton tyrosine kinase	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1342660	D	RGD:9068941	20220204	RGD		mRNA:decreased expression:nasopharynx (human)	PMID:33096113|REF_RGD_ID:151347855
8786793	Actr1b	actin related protein 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8786793	Actr1b	actin related protein 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8786793	Actr1b	actin related protein 1B	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:1316546	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Duane retraction syndrome	PMID:25741868
8786793	Actr1b	actin related protein 1B	gene	DOID:1324	lung cancer		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8786793	Actr1b	actin related protein 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8786793	Actr1b	actin related protein 1B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8786793	Actr1b	actin related protein 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786793	Actr1b	actin related protein 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8786793	Actr1b	actin related protein 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8786808	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8786808	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:10283	prostate cancer		ISO	RGD:1318539	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
8786808	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1318539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8786808	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1318539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8786808	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1318539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8786808	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8786808	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1318539	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8786808	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8786808	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8786808	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8786808	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8786808	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1318539	D	RGD:9068941	20221208	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
8786808	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8786843	Adissp	adipose secreted signaling protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8786843	Adissp	adipose secreted signaling protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8786843	Adissp	adipose secreted signaling protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8786843	Adissp	adipose secreted signaling protein	gene	DOID:1909	melanoma		ISO	RGD:1323352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8786843	Adissp	adipose secreted signaling protein	gene	DOID:3070	high grade glioma		ISO	RGD:1323352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8786843	Adissp	adipose secreted signaling protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8786843	Adissp	adipose secreted signaling protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786843	Adissp	adipose secreted signaling protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8786853	Cxcr6	C-X-C motif chemokine receptor 6	gene	DOID:418	systemic scleroderma		ISO	RGD:1352090	D	RGD:9068941	20200609	RGD		protein:increased expression:skin, endothelial cell	PMID:21303517|REF_RGD_ID:5135279
8786859	Plin3	perilipin 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8786859	Plin3	perilipin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8786859	Plin3	perilipin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1343845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8786859	Plin3	perilipin 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8786859	Plin3	perilipin 3	gene	DOID:1115	sarcoma		ISO	RGD:1343845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8786859	Plin3	perilipin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786859	Plin3	perilipin 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1343845	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8786859	Plin3	perilipin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8786859	Plin3	perilipin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8786886	Tyr	tyrosinase	gene	DOID:0050632	oculocutaneous albinism		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Oculocutaneous albinism	PMID:10671066|PMID:10987646|PMID:11284711|PMID:12028580|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:15885985|PMID:16098056|PMID:1642278|PMID:16907708|PMID:17576681|PMID:18326704|PMID:18463683|PMID:18821858|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:19626598|PMID:19865097|PMID:20861488|PMID:20861851|PMID:2113511|PMID:2120217|PMID:21541274|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:23010199|PMID:23504663|PMID:24033266|PMID:24123366|PMID:24721949|PMID:25216246|PMID:25333069|PMID:25577957|PMID:25703744|PMID:25741868|PMID:25919014|PMID:26167114|PMID:26764160|PMID:26818737|PMID:27537549|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30311386|PMID:30472657|PMID:30679655|PMID:30868578|PMID:31077556|PMID:31719542|PMID:32115698|PMID:32411182|PMID:32849781|PMID:33223529|PMID:34008892|PMID:34838614|PMID:34897530|PMID:35328057|PMID:35729001|PMID:35754085|PMID:35803923|PMID:35870188|PMID:38219857|PMID:38465142|PMID:7704033|PMID:7955413|PMID:8217557|PMID:9163730|PMID:9242509|PMID:9536098
8786886	Tyr	tyrosinase	gene	DOID:0050632	oculocutaneous albinism	treatment	ISO	RGD:11466	D	RGD:9068941	20200609	RGD			PMID:15250938|REF_RGD_ID:8694345
8786886	Tyr	tyrosinase	gene	DOID:0050633	ocular albinism 1		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ocular albinism	PMID:11284711|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:1642278|PMID:18326704|PMID:18463683|PMID:18821858|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:19626598|PMID:19865097|PMID:20861488|PMID:2113511|PMID:2120217|PMID:21541274|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:23504663|PMID:24033266|PMID:24123366|PMID:24721949|PMID:25216246|PMID:25333069|PMID:25577957|PMID:25703744|PMID:25741868|PMID:25919014|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30311386|PMID:30868578|PMID:31077556|PMID:31719542|PMID:32411182|PMID:33223529|PMID:34008892|PMID:34838614|PMID:34897530|PMID:35328057|PMID:35729001|PMID:38219857|PMID:38465142|PMID:7704033|PMID:7955413|PMID:8217557|PMID:9163730|PMID:9242509
8786886	Tyr	tyrosinase	gene	DOID:0070094	oculocutaneous albinism type IA		ISO	RGD:1346000	D	RGD:7240710	20260722	OMIM			
8786886	Tyr	tyrosinase	gene	DOID:0070094	oculocutaneous albinism type IA		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALBINISM I | ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE IA | ClinVar Annotator: match by term: Albinism, oculocutaneous, type IA | ClinVar Annotator: match by term: OCA1 | ClinVar Annotator: match by term: Oculocutaneous albinism type 1 | ClinVar Annotator: match by term: Oculocutaneous albinism type 1A | ClinVar Annotator: match by term: Tyrosinase-negative oculocutaneous albinism	PMID:10671066|PMID:10987646|PMID:11284711|PMID:12028580|PMID:12724309|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:16098056|PMID:16199547|PMID:1642278|PMID:16517127|PMID:1676041|PMID:16907708|PMID:1711223|PMID:17576681|PMID:1820207|PMID:18326704|PMID:18463683|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1900309|PMID:1903591|PMID:1905879|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19533789|PMID:19626598|PMID:19865097|PMID:20301345|PMID:20861488|PMID:20861851|PMID:2113511|PMID:2120217|PMID:21458243|PMID:21541274|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:22981120|PMID:23504663|PMID:24033266|PMID:24123366|PMID:24392141|PMID:24721949|PMID:25216246|PMID:25333069|PMID:25455140|PMID:25577957|PMID:25703744|PMID:25741868|PMID:25919014|PMID:26167114|PMID:26818737|PMID:27537549|PMID:27666373|PMID:27734839|PMID:27775880|PMID:27887888|PMID:27959697|PMID:28112372|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28640309|PMID:28667292|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30311386|PMID:30447237|PMID:30472657|PMID:30868578|PMID:30996339|PMID:31077556|PMID:31199599|PMID:31229681|PMID:31719542|PMID:32115698|PMID:32411182|PMID:32552135|PMID:32581362|PMID:32901917|PMID:32969595|PMID:33223529|PMID:34008892|PMID:34838614|PMID:34897530|PMID:35328057|PMID:35488210|PMID:35729001|PMID:35803923|PMID:36413997|PMID:38030918|PMID:38219857|PMID:38465142|PMID:39218412|PMID:39457547|PMID:41194031|PMID:41292147|PMID:7704033|PMID:7886000|PMID:7955413|PMID:8026428|PMID:8128955|PMID:8217557|PMID:8434585|PMID:9163730|PMID:9242509|PMID:9259202|PMID:9536098
8786886	Tyr	tyrosinase	gene	DOID:0070094	oculocutaneous albinism type IA	treatment	ISO	RGD:1346000	D	RGD:9068941	20200609	RGD			PMID:19436266|REF_RGD_ID:8694335
8786886	Tyr	tyrosinase	gene	DOID:0070095	oculocutaneous albinism type IB		ISO	RGD:1346000	D	RGD:7240710	20260722	OMIM			
8786886	Tyr	tyrosinase	gene	DOID:0070095	oculocutaneous albinism type IB		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE IB | ClinVar Annotator: match by term: Oculocutaneous albinism type 1B | ClinVar Annotator: match by term: YELLOW ALBINISM | ClinVar Annotator: match by term: Yellow albinism	PMID:10671066|PMID:10987646|PMID:11284711|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:16098056|PMID:16199547|PMID:1642278|PMID:1676041|PMID:16907708|PMID:1711223|PMID:17576681|PMID:1820207|PMID:18326704|PMID:18463683|PMID:18821858|PMID:18925668|PMID:1900309|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19533789|PMID:19626598|PMID:19865097|PMID:20301345|PMID:20861488|PMID:20861851|PMID:2113511|PMID:2120217|PMID:21541274|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:23504663|PMID:24033266|PMID:24123366|PMID:24392141|PMID:24721949|PMID:25216246|PMID:25333069|PMID:25577957|PMID:25703744|PMID:25741868|PMID:25919014|PMID:26167114|PMID:26818737|PMID:27537549|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28112372|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30311386|PMID:30472657|PMID:30868578|PMID:30996339|PMID:31077556|PMID:31199599|PMID:31719542|PMID:32115698|PMID:32411182|PMID:32552135|PMID:32581362|PMID:33223529|PMID:34008892|PMID:34838614|PMID:34897530|PMID:35328057|PMID:35729001|PMID:35803923|PMID:37946251|PMID:38219857|PMID:38465142|PMID:7704033|PMID:7955413|PMID:8128955|PMID:8217557|PMID:8434585|PMID:9163730|PMID:9242509|PMID:9536098
8786886	Tyr	tyrosinase	gene	DOID:10376	amblyopia		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25577957|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30868578|PMID:31077556|PMID:32411182|PMID:33223529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:7704033|PMID:7955413|PMID:8217557|PMID:9163730
8786886	Tyr	tyrosinase	gene	DOID:10534	stomach cancer		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25577957|PMID:25741868|PMID:28378818|PMID:28492532|PMID:28976636|PMID:29658579|PMID:31077556|PMID:7704033|PMID:7955413
8786886	Tyr	tyrosinase	gene	DOID:10608	celiac disease		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Celiac disease	PMID:11284711|PMID:13680365|PMID:1429711|PMID:15146472|PMID:1642278|PMID:18463683|PMID:18821858|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:19865097|PMID:20861488|PMID:21541274|PMID:21906913|PMID:22734612|PMID:24033266|PMID:24123366|PMID:25216246|PMID:25333069|PMID:25741868|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28266639|PMID:28492532|PMID:28667292|PMID:30311386|PMID:31719542|PMID:32411182|PMID:34897530|PMID:38219857|PMID:38465142|PMID:9242509
8786886	Tyr	tyrosinase	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1346000	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28629449|PMID:29345414|PMID:30868578|PMID:32411182|PMID:33223529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:8217557|PMID:9163730
8786886	Tyr	tyrosinase	gene	DOID:11211	buphthalmos		ISO	RGD:11466	D	RGD:9068941	20220825	MouseDO		OMIM:231300	
8786886	Tyr	tyrosinase	gene	DOID:11252	microcytic anemia		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcytic anemia	PMID:19865097|PMID:2113511|PMID:2120217|PMID:21985232|PMID:22042571|PMID:22294196|PMID:25703744|PMID:25741868|PMID:28492532|PMID:31077556
8786886	Tyr	tyrosinase	gene	DOID:11782	astigmatism		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25577957|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30868578|PMID:31077556|PMID:32411182|PMID:33223529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:7704033|PMID:7955413|PMID:8217557|PMID:9163730
8786886	Tyr	tyrosinase	gene	DOID:11830	myopia		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25577957|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30868578|PMID:31077556|PMID:32411182|PMID:33223529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:7704033|PMID:7955413|PMID:8217557|PMID:9163730
8786886	Tyr	tyrosinase	gene	DOID:12306	vitiligo		ISO	RGD:1346000	D	RGD:9068941	20200609	RGD			PMID:22834951|REF_RGD_ID:8694387
8786886	Tyr	tyrosinase	gene	DOID:12306	vitiligo	severity	ISO	RGD:1346000	D	RGD:9068941	20200609	RGD			PMID:8697641|REF_RGD_ID:8694409
8786886	Tyr	tyrosinase	gene	DOID:12849	autistic disorder		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autism	PMID:16907708|PMID:1943686|PMID:19865097|PMID:20861851|PMID:25741868|PMID:27734839|PMID:28266639|PMID:28492532|PMID:32115698
8786886	Tyr	tyrosinase	gene	DOID:13620	patent foramen ovale		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:19865097|PMID:2113511|PMID:2120217|PMID:21985232|PMID:22042571|PMID:22294196|PMID:25703744|PMID:25741868|PMID:28492532|PMID:31077556
8786886	Tyr	tyrosinase	gene	DOID:1588	thrombocytopenia		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:19865097|PMID:2113511|PMID:2120217|PMID:21985232|PMID:22042571|PMID:22294196|PMID:25703744|PMID:25741868|PMID:28492532|PMID:31077556
8786886	Tyr	tyrosinase	gene	DOID:1612	breast cancer		ISO	RGD:1346000	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm	PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:666627|PMID:7704033|PMID:9158138
8786886	Tyr	tyrosinase	gene	DOID:1612	breast cancer		ISO	RGD:1346000	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Cancer breast	PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:30472657|PMID:35803923|PMID:666627|PMID:7704033|PMID:9158138
8786886	Tyr	tyrosinase	gene	DOID:1612	breast cancer		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cancer breast	PMID:1429711|PMID:15146472|PMID:1820207|PMID:18326704|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:30472657|PMID:35803923|PMID:7704033
8786886	Tyr	tyrosinase	gene	DOID:1826	epilepsy		ISO	RGD:1346000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16907708|PMID:1943686|PMID:19865097|PMID:20861851|PMID:25741868|PMID:27734839|PMID:28266639|PMID:28492532|PMID:32115698
8786886	Tyr	tyrosinase	gene	DOID:1891	optic nerve disease		ISO	RGD:1346000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:20861488|PMID:25741868|PMID:28492532|PMID:34897530
8786886	Tyr	tyrosinase	gene	DOID:1909	melanoma		ISO	RGD:1346000	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18488027|PMID:19578364|PMID:21559390|PMID:26640592
8786886	Tyr	tyrosinase	gene	DOID:1909	melanoma		ISO	RGD:1346000	D	RGD:9068941	20200609	RGD			PMID:22834951|REF_RGD_ID:8694387
8786886	Tyr	tyrosinase	gene	DOID:1909	melanoma	disease_progression	ISO	RGD:1346000	D	RGD:9068941	20200609	RGD			PMID:8609659|REF_RGD_ID:8694384
8786886	Tyr	tyrosinase	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1346000	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18488027
8786886	Tyr	tyrosinase	gene	DOID:2615	papilloma	treatment	ISO	RGD:11466	D	RGD:9068941	20200609	RGD			PMID:15007389|REF_RGD_ID:8694346
8786886	Tyr	tyrosinase	gene	DOID:2975	cystic kidney disease		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25577957|PMID:25741868|PMID:28378818|PMID:28492532|PMID:28976636|PMID:29658579|PMID:31077556|PMID:7704033|PMID:7955413
8786886	Tyr	tyrosinase	gene	DOID:3459	breast carcinoma		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25577957|PMID:25741868|PMID:28378818|PMID:28492532|PMID:28976636|PMID:29658579|PMID:31077556|PMID:7704033|PMID:7955413
8786886	Tyr	tyrosinase	gene	DOID:4448	macular degeneration		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	PMID:25577957|PMID:25741868|PMID:28378818|PMID:28492532|PMID:28976636|PMID:29658579|PMID:31077556|PMID:7704033|PMID:7955413
8786886	Tyr	tyrosinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1346000	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:18463683|PMID:25216246|PMID:27734839|PMID:28492532
8786886	Tyr	tyrosinase	gene	DOID:630	genetic disease		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11284711|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:1642278|PMID:18326704|PMID:18463683|PMID:18821858|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:19626598|PMID:19865097|PMID:20861488|PMID:21541274|PMID:21906913|PMID:22294196|PMID:22734612|PMID:24033266|PMID:24123366|PMID:24721949|PMID:25216246|PMID:25333069|PMID:25741868|PMID:25919014|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:29345414|PMID:30311386|PMID:30868578|PMID:31719542|PMID:32411182|PMID:33223529|PMID:34008892|PMID:34838614|PMID:34897530|PMID:35328057|PMID:35729001|PMID:38219857|PMID:38465142|PMID:8217557|PMID:9163730|PMID:9242509
8786886	Tyr	tyrosinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8786886	Tyr	tyrosinase	gene	DOID:6846	familial melanoma		ISO	RGD:1346000	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10	PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:666627|PMID:7704033|PMID:9158138
8786886	Tyr	tyrosinase	gene	DOID:6846	familial melanoma		ISO	RGD:1346000	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3	PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:30472657|PMID:35803923|PMID:666627|PMID:7704033|PMID:9158138
8786886	Tyr	tyrosinase	gene	DOID:6846	familial melanoma		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial melanoma	PMID:1429711|PMID:15146472|PMID:1820207|PMID:18326704|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:30472657|PMID:35803923|PMID:7704033
8786886	Tyr	tyrosinase	gene	DOID:8465	retinoschisis	treatment	ISO	RGD:1346000	D	RGD:9068941	20200609	RGD			PMID:20876567|REF_RGD_ID:8694343
8786886	Tyr	tyrosinase	gene	DOID:8923	skin melanoma	susceptibility	ISO	RGD:1346000	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.R402Q(human)	PMID:21906913|REF_RGD_ID:8694390
8786886	Tyr	tyrosinase	gene	DOID:9000307	Presbycusis	onset	ISO	RGD:11466	D	RGD:9068941	20200609	RGD			PMID:19141317|REF_RGD_ID:8694327
8786886	Tyr	tyrosinase	gene	DOID:9000307	Presbycusis	treatment	ISO	RGD:11466	D	RGD:9068941	20200609	RGD		associated with Albinism;	PMID:19843244|REF_RGD_ID:8694324
8786886	Tyr	tyrosinase	gene	DOID:9000570	Skin/Hair/Eye Pigmentation, Variation In, 3		ISO	RGD:1346000	D	RGD:7240710	20260722	OMIM			
8786886	Tyr	tyrosinase	gene	DOID:9000570	Skin/Hair/Eye Pigmentation, Variation In, 3		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 3	PMID:10987646|PMID:11284711|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:16098056|PMID:1642278|PMID:1676041|PMID:16907708|PMID:1711223|PMID:17576681|PMID:1820207|PMID:18326704|PMID:18463683|PMID:18821858|PMID:18925668|PMID:1900309|PMID:1903591|PMID:1905879|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19533789|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20301345|PMID:20861488|PMID:20861851|PMID:2113511|PMID:2120217|PMID:21541274|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:22981120|PMID:23504663|PMID:24033266|PMID:24123366|PMID:24392141|PMID:24721949|PMID:25216246|PMID:25333069|PMID:25577957|PMID:25703744|PMID:25741868|PMID:25919014|PMID:26167114|PMID:26818737|PMID:27537549|PMID:27734839|PMID:27775880|PMID:27887888|PMID:27959697|PMID:28112372|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30311386|PMID:30472657|PMID:30868578|PMID:30996339|PMID:31077556|PMID:31199599|PMID:31719542|PMID:32115698|PMID:32411182|PMID:32581362|PMID:33223529|PMID:33612058|PMID:34008892|PMID:34838614|PMID:34897530|PMID:35328057|PMID:35729001|PMID:35803923|PMID:38219857|PMID:38465142|PMID:7704033|PMID:7955413|PMID:8128955|PMID:8217557|PMID:8434585|PMID:9163730|PMID:9242509|PMID:9259202|PMID:9536098
8786886	Tyr	tyrosinase	gene	DOID:9000965	Neoplasm Metastasis	no_association	ISO	RGD:1346000	D	RGD:9068941	20200609	RGD		associated with melanoma;	PMID:11092039|REF_RGD_ID:8694395
8786886	Tyr	tyrosinase	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Choroidal neovascularization	PMID:1429711|PMID:15146472|PMID:1820207|PMID:18326704|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25577957|PMID:25741868|PMID:28378818|PMID:28492532|PMID:28976636|PMID:29658579|PMID:30472657|PMID:31077556|PMID:35803923|PMID:7704033|PMID:7955413
8786886	Tyr	tyrosinase	gene	DOID:9001386	Albinism		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Albinism	PMID:10987646|PMID:11284711|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:1642278|PMID:1820207|PMID:18326704|PMID:18463683|PMID:18821858|PMID:18925668|PMID:1900309|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:19533789|PMID:19626598|PMID:19865097|PMID:20301345|PMID:20861488|PMID:2113511|PMID:2120217|PMID:21541274|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:23504663|PMID:24033266|PMID:24123366|PMID:24392141|PMID:24721949|PMID:25216246|PMID:25333069|PMID:25577957|PMID:25703744|PMID:25741868|PMID:25919014|PMID:26167114|PMID:26818737|PMID:27537549|PMID:27734839|PMID:27775880|PMID:27887888|PMID:27959697|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30311386|PMID:30472657|PMID:30868578|PMID:31077556|PMID:31719542|PMID:32411182|PMID:32581362|PMID:33223529|PMID:34008892|PMID:34838614|PMID:34897530|PMID:35328057|PMID:35729001|PMID:35803923|PMID:38219857|PMID:38465142|PMID:7704033|PMID:7955413|PMID:8217557|PMID:9163730|PMID:9242509|PMID:9259202
8786886	Tyr	tyrosinase	gene	DOID:9001386	Albinism	treatment	ISO	RGD:11466	D	RGD:9068941	20200609	RGD			PMID:2112453|REF_RGD_ID:8694355
8786886	Tyr	tyrosinase	gene	DOID:9001581	Constipation		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:11284711|PMID:13680365|PMID:1429711|PMID:15146472|PMID:1642278|PMID:1820207|PMID:18326704|PMID:18463683|PMID:18821858|PMID:18925668|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:19533789|PMID:19865097|PMID:20301345|PMID:20861488|PMID:21541274|PMID:21906913|PMID:22734612|PMID:23504663|PMID:24033266|PMID:24123366|PMID:25216246|PMID:25333069|PMID:25741868|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28266639|PMID:28492532|PMID:28667292|PMID:30311386|PMID:30472657|PMID:31719542|PMID:32411182|PMID:34897530|PMID:35803923|PMID:38219857|PMID:38465142|PMID:7704033|PMID:9242509
8786886	Tyr	tyrosinase	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:19865097|PMID:2113511|PMID:2120217|PMID:21985232|PMID:22042571|PMID:22294196|PMID:25703744|PMID:25741868|PMID:28492532|PMID:31077556
8786886	Tyr	tyrosinase	gene	DOID:9001923	Foveal Hypoplasia		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Foveal hypoplasia | ClinVar Annotator: match by term: foveal hypoplasia	PMID:1429711|PMID:15146472|PMID:1820207|PMID:18326704|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25577957|PMID:25741868|PMID:28378818|PMID:28492532|PMID:28976636|PMID:29658579|PMID:30472657|PMID:31077556|PMID:35803923|PMID:7704033|PMID:7955413
8786886	Tyr	tyrosinase	gene	DOID:9003119	Nonsyndromic Oculocutaneous Albinism		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism	PMID:13680365|PMID:15381243|PMID:15937636|PMID:16098056|PMID:16907708|PMID:18326704|PMID:18463683|PMID:19060277|PMID:1943686|PMID:19626598|PMID:19865097|PMID:20861488|PMID:20861851|PMID:22294196|PMID:23504663|PMID:24033266|PMID:24721949|PMID:25216246|PMID:25741868|PMID:25919014|PMID:27734839|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28629449|PMID:29345414|PMID:30868578|PMID:31077556|PMID:32115698|PMID:32411182|PMID:32581362|PMID:33223529|PMID:33800529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:38030918|PMID:8026428|PMID:8217557|PMID:9163730
8786886	Tyr	tyrosinase	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1346000	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18488027
8786886	Tyr	tyrosinase	gene	DOID:9004538	Hearing Loss		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:11284711|PMID:13680365|PMID:1429711|PMID:15146472|PMID:1642278|PMID:18463683|PMID:18821858|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:19865097|PMID:20861488|PMID:21541274|PMID:21906913|PMID:22734612|PMID:24033266|PMID:24123366|PMID:25216246|PMID:25333069|PMID:25741868|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28266639|PMID:28492532|PMID:28667292|PMID:30311386|PMID:31719542|PMID:32411182|PMID:34897530|PMID:38219857|PMID:38465142|PMID:9242509
8786886	Tyr	tyrosinase	gene	DOID:9004595	Diastema		ISO	RGD:1346000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diastema	
8786886	Tyr	tyrosinase	gene	DOID:9005389	Oculocutaneous Albinism Type I, Temperature-Sensitive		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE | ClinVar Annotator: match by term: TYR-related condition	PMID:10823941|PMID:10987646|PMID:11284711|PMID:11295837|PMID:11829136|PMID:12028580|PMID:12753405|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:15635296|PMID:16056219|PMID:16199547|PMID:1642278|PMID:16570240|PMID:1676041|PMID:1711223|PMID:17576681|PMID:1820207|PMID:18326704|PMID:18463683|PMID:18701257|PMID:18821858|PMID:18925668|PMID:1900309|PMID:1903591|PMID:1905879|PMID:19060277|PMID:19208379|PMID:19320745|PMID:19533789|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20301345|PMID:20806075|PMID:20861488|PMID:2113511|PMID:2120217|PMID:21541274|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:23010199|PMID:23085273|PMID:23324268|PMID:2342539|PMID:23504663|PMID:24033266|PMID:24123366|PMID:24461674|PMID:24721949|PMID:2511845|PMID:25216246|PMID:25333069|PMID:25577957|PMID:25703744|PMID:25741868|PMID:25919014|PMID:26165494|PMID:26167114|PMID:26818737|PMID:27537549|PMID:27734839|PMID:27775880|PMID:27829221|PMID:27887888|PMID:27959697|PMID:28112372|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28771251|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30311386|PMID:30472657|PMID:30868578|PMID:30996339|PMID:31077556|PMID:31199599|PMID:31719542|PMID:32411182|PMID:32552135|PMID:32849781|PMID:33124154|PMID:33223529|PMID:34008892|PMID:34838614|PMID:34897530|PMID:35328057|PMID:35379600|PMID:35729001|PMID:35803923|PMID:37327787|PMID:38219857|PMID:38465142|PMID:39251934|PMID:6|PMID:7|PMID:7704033|PMID:7902671|PMID:7955413|PMID:8128955|PMID:8217557|PMID:8430701|PMID:8434585|PMID:8477259|PMID:9163730|PMID:9242509|PMID:9259202|PMID:9536098
8786886	Tyr	tyrosinase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:1429711|PMID:15146472|PMID:1820207|PMID:18326704|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:30472657|PMID:35803923|PMID:7704033
8786886	Tyr	tyrosinase	gene	DOID:9005616	Micrognathism		ISO	RGD:1346000	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28629449|PMID:29345414|PMID:30868578|PMID:32411182|PMID:33223529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:8217557|PMID:9163730
8786886	Tyr	tyrosinase	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:11284711|PMID:13680365|PMID:1429711|PMID:15146472|PMID:1642278|PMID:18463683|PMID:18821858|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:19865097|PMID:20861488|PMID:21541274|PMID:21906913|PMID:22734612|PMID:24033266|PMID:24123366|PMID:25216246|PMID:25333069|PMID:25741868|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28266639|PMID:28492532|PMID:28667292|PMID:30311386|PMID:31719542|PMID:32411182|PMID:34897530|PMID:38219857|PMID:38465142|PMID:9242509
8786886	Tyr	tyrosinase	gene	DOID:9006846	Dysuria		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysuria	PMID:11284711|PMID:13680365|PMID:1429711|PMID:15146472|PMID:1642278|PMID:18463683|PMID:18821858|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:19865097|PMID:20861488|PMID:21541274|PMID:21906913|PMID:22734612|PMID:24033266|PMID:24123366|PMID:25216246|PMID:25333069|PMID:25741868|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28266639|PMID:28492532|PMID:28667292|PMID:30311386|PMID:31719542|PMID:32411182|PMID:34897530|PMID:38219857|PMID:38465142|PMID:9242509
8786886	Tyr	tyrosinase	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1346000	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:16098056|PMID:25216246|PMID:25741868|PMID:28266639|PMID:28492532|PMID:31077556|PMID:33800529|PMID:8026428
8786886	Tyr	tyrosinase	gene	DOID:9008421	Epistaxis		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:11284711|PMID:13680365|PMID:1429711|PMID:15146472|PMID:1642278|PMID:18463683|PMID:18821858|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:19865097|PMID:20861488|PMID:21541274|PMID:21906913|PMID:22734612|PMID:24033266|PMID:24123366|PMID:25216246|PMID:25333069|PMID:25741868|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28266639|PMID:28492532|PMID:28667292|PMID:30311386|PMID:31719542|PMID:32411182|PMID:34897530|PMID:38219857|PMID:38465142|PMID:9242509
8786886	Tyr	tyrosinase	gene	DOID:9009047	Laryngeal Cleft		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Laryngeal cleft	PMID:1429711|PMID:15146472|PMID:1820207|PMID:18326704|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:30472657|PMID:35803923|PMID:7704033
8786886	Tyr	tyrosinase	gene	DOID:9258	Waardenburg syndrome		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ocular albinism with congenital sensorineural hearing loss	PMID:11284711|PMID:13680365|PMID:1429711|PMID:15146472|PMID:1642278|PMID:18463683|PMID:18821858|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:19865097|PMID:20861488|PMID:21541274|PMID:21906913|PMID:22734612|PMID:24033266|PMID:24123366|PMID:25216246|PMID:25333069|PMID:25577957|PMID:25741868|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28266639|PMID:28378818|PMID:28492532|PMID:28667292|PMID:28976636|PMID:29658579|PMID:30311386|PMID:31077556|PMID:31719542|PMID:32411182|PMID:34897530|PMID:38219857|PMID:38465142|PMID:7704033|PMID:7955413|PMID:9242509
8786886	Tyr	tyrosinase	gene	DOID:9649	congenital nystagmus		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital nystagmus	PMID:10987646|PMID:1429711|PMID:15146472|PMID:1820207|PMID:18326704|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:27734839|PMID:27959697|PMID:28492532|PMID:30472657|PMID:35803923|PMID:7704033|PMID:9259202
8786886	Tyr	tyrosinase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus | ClinVar Annotator: match by term: Nystagmus | ClinVar Annotator: match by term: nystagmus	PMID:11284711|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:1642278|PMID:1820207|PMID:18326704|PMID:18463683|PMID:18821858|PMID:18925668|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:19533789|PMID:19626598|PMID:19865097|PMID:20301345|PMID:20861488|PMID:21541274|PMID:21906913|PMID:22294196|PMID:22734612|PMID:23504663|PMID:24033266|PMID:24123366|PMID:24721949|PMID:25216246|PMID:25333069|PMID:25577957|PMID:25741868|PMID:25919014|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30311386|PMID:30472657|PMID:30868578|PMID:31077556|PMID:31719542|PMID:32411182|PMID:33223529|PMID:34008892|PMID:34838614|PMID:34897530|PMID:35328057|PMID:35729001|PMID:35803923|PMID:38219857|PMID:38465142|PMID:7704033|PMID:7955413|PMID:8217557|PMID:9163730|PMID:9242509
8786886	Tyr	tyrosinase	gene	DOID:9834	hyperopia		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25577957|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30868578|PMID:31077556|PMID:32411182|PMID:33223529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:7704033|PMID:7955413|PMID:8217557|PMID:9163730
8786886	Tyr	tyrosinase	gene	DOID:9840	esotropia		ISO	RGD:1346000	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Esophoria	PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28629449|PMID:29345414|PMID:30868578|PMID:32411182|PMID:33223529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:8217557|PMID:9163730
8786886	Tyr	tyrosinase	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Acute lymphoid leukemia	PMID:25577957|PMID:25741868|PMID:28378818|PMID:28492532|PMID:28976636|PMID:29658579|PMID:31077556|PMID:7704033|PMID:7955413
8786895	Crcp	CGRP receptor component	gene	DOID:11446	sciatic neuropathy		ISO	RGD:620753	D	RGD:9068941	20200609	RGD			PMID:12895509|REF_RGD_ID:727768
8786895	Crcp	CGRP receptor component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8786895	Crcp	CGRP receptor component	gene	DOID:4362	cervical cancer		ISO	RGD:1601760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8786895	Crcp	CGRP receptor component	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8786895	Crcp	CGRP receptor component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786895	Crcp	CGRP receptor component	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1601760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8786895	Crcp	CGRP receptor component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8786895	Crcp	CGRP receptor component	gene	DOID:9002211	Hyperalgesia		ISO	RGD:620753	D	RGD:9068941	20200609	RGD			PMID:12895509|REF_RGD_ID:727768
8786895	Crcp	CGRP receptor component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8786895	Crcp	CGRP receptor component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8786929	Ptpn21	protein tyrosine phosphatase non-receptor type 21	gene	DOID:10283	prostate cancer		ISO	RGD:734205	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8786929	Ptpn21	protein tyrosine phosphatase non-receptor type 21	gene	DOID:10283	prostate cancer		ISO	RGD:734205	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8786929	Ptpn21	protein tyrosine phosphatase non-receptor type 21	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8786929	Ptpn21	protein tyrosine phosphatase non-receptor type 21	gene	DOID:1324	lung cancer		ISO	RGD:734205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8786929	Ptpn21	protein tyrosine phosphatase non-receptor type 21	gene	DOID:1909	melanoma		ISO	RGD:734205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8786929	Ptpn21	protein tyrosine phosphatase non-receptor type 21	gene	DOID:2661	myoepithelioma		ISO	RGD:734205	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8786929	Ptpn21	protein tyrosine phosphatase non-receptor type 21	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:734205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8786929	Ptpn21	protein tyrosine phosphatase non-receptor type 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786929	Ptpn21	protein tyrosine phosphatase non-receptor type 21	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8786929	Ptpn21	protein tyrosine phosphatase non-receptor type 21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8786970	Lrrc23	leucine rich repeat containing 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8786970	Lrrc23	leucine rich repeat containing 23	gene	DOID:0070591	spermatogenic failure 92		ISO	RGD:1604054	D	RGD:7240710	20240703	OMIM			
8786970	Lrrc23	leucine rich repeat containing 23	gene	DOID:0070591	spermatogenic failure 92		ISO	RGD:1604054	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 92	
8786970	Lrrc23	leucine rich repeat containing 23	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8786970	Lrrc23	leucine rich repeat containing 23	gene	DOID:1115	sarcoma		ISO	RGD:1604054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8786970	Lrrc23	leucine rich repeat containing 23	gene	DOID:1909	melanoma		ISO	RGD:1604054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8786970	Lrrc23	leucine rich repeat containing 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786970	Lrrc23	leucine rich repeat containing 23	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8786970	Lrrc23	leucine rich repeat containing 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8786970	Lrrc23	leucine rich repeat containing 23	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:0050581	brachydactyly		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1601873	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:0060970	Cornelia de Lange syndrome 6		ISO	RGD:1601873	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cornelia de Lange syndrome 6	PMID:25741868
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:0080006	bone development disease		ISO	RGD:1601873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:10534	stomach cancer		ISO	RGD:1601873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:1059	intellectual disability		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:10907	microcephaly		ISO	RGD:1601873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25730767|PMID:25741868|PMID:28492532
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:1115	sarcoma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:12270	coloboma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:13620	patent foramen ovale		ISO	RGD:1601873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25730767|PMID:25741868|PMID:28492532
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1601873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25730767|PMID:25741868|PMID:28492532
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:1561	cognitive disorder		ISO	RGD:1601873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:1682	congenital heart disease		ISO	RGD:1601873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:4362	cervical cancer		ISO	RGD:1601873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:630	genetic disease		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:83	cataract		ISO	RGD:1601873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25730767|PMID:25741868|PMID:28492532
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:8445	intestinal volvulus		ISO	RGD:1601873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Volvulus	PMID:25730767|PMID:25741868|PMID:28492532
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:850	lung disease		ISO	RGD:1601873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:8923	skin melanoma	disease_progression	ISO	RGD:1601873	D	RGD:9068941	20221028	RGD			PMID:33417923|REF_RGD_ID:155631266
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:9000590	Dyspnea		ISO	RGD:1601873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:25730767|PMID:25741868|PMID:28492532
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:9001487	Facies		ISO	RGD:1601873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:9001581	Constipation		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25730767
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:9004538	Hearing Loss		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:1311694	D	RGD:9068941	20221028	RGD			PMID:31466050|REF_RGD_ID:155631268
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:9006257	Growth Disorders		ISO	RGD:1601873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:9006799	CHOPS Syndrome		ISO	RGD:1601873	D	RGD:7240710	20180130	OMIM			
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:9006799	CHOPS Syndrome		ISO	RGD:1601873	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: AFF4-related condition | ClinVar Annotator: match by term: CHOPS SYNDROME | ClinVar Annotator: match by term: Chops syndrome | ClinVar Annotator: match by term: Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	PMID:17576681|PMID:25730767|PMID:25741868|PMID:28492532|PMID:29758562|PMID:31058441|PMID:34782754|PMID:9536098
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1601873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1601873	D	RGD:9068941	20221028	RGD			PMID:35223479|REF_RGD_ID:155631267
8786989	Aff4	ALF transcription elongation factor 4	gene	DOID:9970	obesity		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441
8787019	Xkr5	XK related 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787019	Xkr5	XK related 5	gene	DOID:1324	lung cancer		ISO	RGD:1604445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8787019	Xkr5	XK related 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1604445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8787019	Xkr5	XK related 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787019	Xkr5	XK related 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8787019	Xkr5	XK related 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787038	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787038	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:10126	keratoconus		ISO	RGD:1314515	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Keratoconus	
8787038	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:10534	stomach cancer		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8787038	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:1115	sarcoma		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8787038	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:1324	lung cancer		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8787038	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:1909	melanoma		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8787038	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8787038	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:3275	thymoma		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8787038	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:4362	cervical cancer		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8787038	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8787038	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:5041	esophageal cancer		ISO	RGD:1314515	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8787038	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787038	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8787038	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8787038	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787038	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8787038	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8787080	Sumo3	small ubiquitin like modifier 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346388	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787080	Sumo3	small ubiquitin like modifier 3	gene	DOID:1909	melanoma		ISO	RGD:1346388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8787094	Efcab11	EF-hand calcium binding domain 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787094	Efcab11	EF-hand calcium binding domain 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787094	Efcab11	EF-hand calcium binding domain 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343471	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787104	Lyg2	lysozyme g2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787114	Zrsr2	zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8787114	Zrsr2	zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1346246	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26457647
8787114	Zrsr2	zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1346246	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27992414
8787114	Zrsr2	zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1346246	D	RGD:9068941	20220114	RGD		DNA:missense mutation:multiple (human)	PMID:25586593|PMID:28942350|REF_RGD_ID:151232290|REF_RGD_ID:151232291
8787114	Zrsr2	zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1346246	D	RGD:9068941	20220114	RGD		DNA:missense mutations:multiple (human)	PMID:22343920|REF_RGD_ID:151232292
8787114	Zrsr2	zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1346246	D	RGD:9068941	20220121	RGD			PMID:28220884|REF_RGD_ID:151347177
8787114	Zrsr2	zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2	gene	DOID:0060058	lymphoma		ISO	RGD:1346246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8787114	Zrsr2	zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787114	Zrsr2	zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2	gene	DOID:9003273	Chromosome 8, Trisomy		ISO	RGD:1346246	D	RGD:9068941	20220121	RGD			PMID:28220884|REF_RGD_ID:151347177
8787114	Zrsr2	zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2	gene	DOID:9003890	X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia		ISO	RGD:1346246	D	RGD:9068941	20220114	RGD		DNA:missense mutation:multiple (human)	PMID:28942350|REF_RGD_ID:151232291
8787114	Zrsr2	zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1346246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8787114	Zrsr2	zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787114	Zrsr2	zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8787114	Zrsr2	zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2	gene	DOID:9009248	Orofaciodigital Syndrome XXI		ISO	RGD:1346246	D	RGD:7240710	20241106	OMIM			
8787114	Zrsr2	zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2	gene	DOID:9009248	Orofaciodigital Syndrome XXI		ISO	RGD:1346246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XXI	PMID:25679214|PMID:25741868|PMID:31680349|PMID:38158857
8787114	Zrsr2	zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346246	D	RGD:9068941	20220121	RGD		DNA:missense mutations:multiple (human)	PMID:25550361|REF_RGD_ID:151232299
8787114	Zrsr2	zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346246	D	RGD:9068941	20220121	RGD		associated with aging	PMID:32027246|REF_RGD_ID:151347178
8787129	Smyd2	SET and MYND domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8787129	Smyd2	SET and MYND domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787129	Smyd2	SET and MYND domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1354091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8787129	Smyd2	SET and MYND domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8787129	Smyd2	SET and MYND domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1354091	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8787129	Smyd2	SET and MYND domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8787129	Smyd2	SET and MYND domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787129	Smyd2	SET and MYND domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8787129	Smyd2	SET and MYND domain containing 2	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:1354091	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25825497
8787129	Smyd2	SET and MYND domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787143	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787143	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:1115	sarcoma		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8787143	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:1324	lung cancer		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8787143	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:3275	thymoma		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8787143	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8787143	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8787143	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8787143	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787143	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:6039	uveal melanoma		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8787143	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8787143	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787143	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8787143	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8787156	Cpvl	carboxypeptidase vitellogenic like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787156	Cpvl	carboxypeptidase vitellogenic like	gene	DOID:10534	stomach cancer		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8787156	Cpvl	carboxypeptidase vitellogenic like	gene	DOID:1115	sarcoma		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8787156	Cpvl	carboxypeptidase vitellogenic like	gene	DOID:1324	lung cancer		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8787156	Cpvl	carboxypeptidase vitellogenic like	gene	DOID:1909	melanoma		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8787156	Cpvl	carboxypeptidase vitellogenic like	gene	DOID:4362	cervical cancer		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8787156	Cpvl	carboxypeptidase vitellogenic like	gene	DOID:5041	esophageal cancer		ISO	RGD:1345667	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8787156	Cpvl	carboxypeptidase vitellogenic like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787156	Cpvl	carboxypeptidase vitellogenic like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8787156	Cpvl	carboxypeptidase vitellogenic like	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1345667	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8787156	Cpvl	carboxypeptidase vitellogenic like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8787156	Cpvl	carboxypeptidase vitellogenic like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8787156	Cpvl	carboxypeptidase vitellogenic like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787156	Cpvl	carboxypeptidase vitellogenic like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8787195	Chst9	carbohydrate sulfotransferase 9	gene	DOID:1324	lung cancer		ISO	RGD:1316417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8787195	Chst9	carbohydrate sulfotransferase 9	gene	DOID:4362	cervical cancer		ISO	RGD:1316417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8787195	Chst9	carbohydrate sulfotransferase 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787213	Zscan18	zinc finger and SCAN domain containing 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8787213	Zscan18	zinc finger and SCAN domain containing 18	gene	DOID:1115	sarcoma		ISO	RGD:1343704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8787213	Zscan18	zinc finger and SCAN domain containing 18	gene	DOID:1324	lung cancer		ISO	RGD:1343704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8787213	Zscan18	zinc finger and SCAN domain containing 18	gene	DOID:3070	high grade glioma		ISO	RGD:1343704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8787213	Zscan18	zinc finger and SCAN domain containing 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787213	Zscan18	zinc finger and SCAN domain containing 18	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8787213	Zscan18	zinc finger and SCAN domain containing 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787224	Dhps	deoxyhypusine synthase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8787224	Dhps	deoxyhypusine synthase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787224	Dhps	deoxyhypusine synthase	gene	DOID:10534	stomach cancer		ISO	RGD:1602903	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8787224	Dhps	deoxyhypusine synthase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8787224	Dhps	deoxyhypusine synthase	gene	DOID:1826	epilepsy		ISO	RGD:1602903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:30661771
8787224	Dhps	deoxyhypusine synthase	gene	DOID:3275	thymoma		ISO	RGD:1602903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8787224	Dhps	deoxyhypusine synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787224	Dhps	deoxyhypusine synthase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8787224	Dhps	deoxyhypusine synthase	gene	DOID:9000463	Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment		ISO	RGD:1602903	D	RGD:7240710	20190807	OMIM			
8787224	Dhps	deoxyhypusine synthase	gene	DOID:9000463	Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment		ISO	RGD:1602903	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: DHPS-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment	PMID:25741868|PMID:30661771
8787224	Dhps	deoxyhypusine synthase	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1602903	D	RGD:9068941	20250206	RGD		protein:increased expression:pulmonary arterial smooth muscle:	PMID:38261723|REF_RGD_ID:597621636
8787224	Dhps	deoxyhypusine synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787248	Spr	sepiapterin reductase	gene	DOID:0050842	oculogyric crisis		ISO	RGD:1346391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oculogyric crisis	PMID:16917893|PMID:18502672|PMID:21431957|PMID:21677200|PMID:24212389|PMID:25741868|PMID:25763508|PMID:28492532|PMID:29116116
8787248	Spr	sepiapterin reductase	gene	DOID:0080600	COVID-19		ISO	RGD:1346391	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8787248	Spr	sepiapterin reductase	gene	DOID:0111168	sepiapterin reductase deficiency		ISO	RGD:1346391	D	RGD:7240710	20180130	OMIM			
8787248	Spr	sepiapterin reductase	gene	DOID:0111168	sepiapterin reductase deficiency		ISO	RGD:1346391	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY | ClinVar Annotator: match by term: Dopa-responsive dystonia due to sepiapterin reductase deficiency | ClinVar Annotator: match by term: SPR DEFICIENCY | ClinVar Annotator: match by term: SPR deficiency | ClinVar Annotator: match by term: Sepiapterin reductase deficiency	PMID:11443547|PMID:16049044|PMID:16917893|PMID:17159114|PMID:17576681|PMID:18414213|PMID:18502672|PMID:19491146|PMID:21431957|PMID:21677200|PMID:22291068|PMID:22522443|PMID:23430877|PMID:24212389|PMID:25741868|PMID:25763508|PMID:28492532|PMID:29116116|PMID:33098801|PMID:33822819|PMID:34324503|PMID:35872528|PMID:35926683|PMID:9536098
8787248	Spr	sepiapterin reductase	gene	DOID:1059	intellectual disability		ISO	RGD:1346391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:16917893|PMID:18502672|PMID:21431957|PMID:21677200|PMID:24212389|PMID:25741868|PMID:25763508|PMID:28492532|PMID:29116116|PMID:32581362
8787248	Spr	sepiapterin reductase	gene	DOID:14330	Parkinson's disease		ISO	RGD:736908	D	RGD:9068941	20220825	MouseDO		OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251	
8787248	Spr	sepiapterin reductase	gene	DOID:543	dystonia		ISO	RGD:1346391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder	PMID:11443547|PMID:15241655|PMID:16917893|PMID:17159114|PMID:17576681|PMID:18502672|PMID:19130291|PMID:19491146|PMID:21431957|PMID:21677200|PMID:22291068|PMID:22522443|PMID:23430877|PMID:23640889|PMID:24212389|PMID:24588500|PMID:25741868|PMID:25763508|PMID:28492532|PMID:29116116|PMID:29147684|PMID:34324503|PMID:34550503|PMID:36964972|PMID:41210864|PMID:9536098
8787248	Spr	sepiapterin reductase	gene	DOID:543	dystonia	susceptibility	ISO	RGD:1346391	D	RGD:9068941	20200609	RGD		DNA:deletion, transitions	PMID:11443547|REF_RGD_ID:1600054
8787248	Spr	sepiapterin reductase	gene	DOID:630	genetic disease		ISO	RGD:1346391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8787248	Spr	sepiapterin reductase	gene	DOID:9000831	Hypokinesia		ISO	RGD:1346391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradykinesia	PMID:16917893|PMID:18502672|PMID:21431957|PMID:21677200|PMID:24212389|PMID:25741868|PMID:25763508|PMID:28492532|PMID:29116116
8787248	Spr	sepiapterin reductase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16917893|PMID:18502672|PMID:21431957|PMID:21677200|PMID:24212389|PMID:25741868|PMID:25763508|PMID:28492532|PMID:29116116
8787248	Spr	sepiapterin reductase	gene	DOID:93	language disorder		ISO	RGD:1346391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:16917893|PMID:18502672|PMID:21431957|PMID:21677200|PMID:24212389|PMID:25741868|PMID:25763508|PMID:28492532|PMID:29116116
8787266	Rrp12	ribosomal RNA processing 12 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787266	Rrp12	ribosomal RNA processing 12 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1343951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8787266	Rrp12	ribosomal RNA processing 12 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1343951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8787266	Rrp12	ribosomal RNA processing 12 homolog	gene	DOID:1909	melanoma		ISO	RGD:1343951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8787266	Rrp12	ribosomal RNA processing 12 homolog	gene	DOID:3275	thymoma		ISO	RGD:1343951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8787266	Rrp12	ribosomal RNA processing 12 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1343951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8787266	Rrp12	ribosomal RNA processing 12 homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8787266	Rrp12	ribosomal RNA processing 12 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787266	Rrp12	ribosomal RNA processing 12 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8787266	Rrp12	ribosomal RNA processing 12 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8787266	Rrp12	ribosomal RNA processing 12 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787266	Rrp12	ribosomal RNA processing 12 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8787266	Rrp12	ribosomal RNA processing 12 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:0050861	colorectal adenocarcinoma	disease_progression	ISO	RGD:1354186	D	RGD:9068941	20220224	RGD			PMID:32359697|REF_RGD_ID:151361139
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:0050865	tongue squamous cell carcinoma	disease_progression	ISO	RGD:1354186	D	RGD:9068941	20220225	RGD			PMID:24762957|REF_RGD_ID:151361157
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:0050866	oral squamous cell carcinoma	severity	ISO	RGD:1354186	D	RGD:9068941	20220303	RGD			PMID:23801167|REF_RGD_ID:151361213
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:0050872	large cell neuroendocrine carcinoma	disease_progression	ISO	RGD:1354186	D	RGD:9068941	20220303	RGD			PMID:18440724|REF_RGD_ID:151361285
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1354186	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:27912058
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:0080202	adenoid cystic carcinoma	disease_progression	ISO	RGD:1354186	D	RGD:9068941	20220303	RGD			PMID:23516127|REF_RGD_ID:151361211
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:0080899	lung pleomorphic carcinoma	disease_progression	ISO	RGD:1354186	D	RGD:9068941	20220303	RGD			PMID:30300664|REF_RGD_ID:151361288
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1354186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1354186	D	RGD:9068941	20220303	RGD			PMID:23809372|REF_RGD_ID:151361296
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:1107	esophageal carcinoma	severity	ISO	RGD:1354186	D	RGD:9068941	20220303	RGD			PMID:15906366|REF_RGD_ID:151361282
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:11963	esophagitis		ISO	RGD:1354186	D	RGD:9068941	20220303	RGD		protein:increased expression:epithelium	PMID:28370814|REF_RGD_ID:151361286
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:1996	rectum adenocarcinoma	treatment	ISO	RGD:1354186	D	RGD:9068941	20220303	RGD			PMID:21036745|REF_RGD_ID:151361202
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:219	colon cancer	treatment	ISO	RGD:1354186	D	RGD:9068941	20220303	RGD			PMID:19900191|REF_RGD_ID:151361295
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1354186	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:3068	glioblastoma	disease_progression	ISO	RGD:1354186	D	RGD:9068941	20220224	RGD			PMID:16496379|REF_RGD_ID:151361115
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:3069	malignant astrocytoma	disease_progression	ISO	RGD:1354186	D	RGD:9068941	20220224	RGD			PMID:16496379|REF_RGD_ID:151361115
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:3070	high grade glioma	ameliorates	ISO	RGD:620639	D	RGD:9068941	20220224	RGD			PMID:16496379|REF_RGD_ID:151361115
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:3495	extrahepatic bile duct adenocarcinoma	disease_progression	ISO	RGD:1354186	D	RGD:9068941	20220303	RGD			PMID:24890221|REF_RGD_ID:151361210
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1354186	D	RGD:9068941	20220303	RGD		protein:increased expression:mucosa:	PMID:21501294|REF_RGD_ID:151361203
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1354186	D	RGD:9068941	20220224	RGD		protein:increased expression:esophagus	PMID:33609949|REF_RGD_ID:151361149
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:1354186	D	RGD:9068941	20220303	RGD			PMID:26936531|PMID:31726270|REF_RGD_ID:11532833|REF_RGD_ID:151361144
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735716	D	RGD:9068941	20220225	RGD			PMID:19068093|REF_RGD_ID:151361158
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1354186	D	RGD:9068941	20220225	RGD			PMID:21187458|REF_RGD_ID:151361159
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1354186	D	RGD:9068941	20220303	RGD			PMID:22110199|REF_RGD_ID:151361206
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1354186	D	RGD:9068941	20220225	RGD			PMID:19171406|PMID:26279756|REF_RGD_ID:151361150|REF_RGD_ID:151361151
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:4362	cervical cancer		ISO	RGD:1354186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:4896	bile duct adenocarcinoma	disease_progression	ISO	RGD:1354186	D	RGD:9068941	20220303	RGD			PMID:24131658|REF_RGD_ID:151361287
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:4897	bile duct carcinoma	disease_progression	ISO	RGD:1354186	D	RGD:9068941	20220303	RGD			PMID:24890221|REF_RGD_ID:151361210
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1354186	D	RGD:9068941	20220303	RGD			PMID:25475870|REF_RGD_ID:151361214
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:4947	cholangiocarcinoma	treatment	ISO	RGD:1354186	D	RGD:9068941	20220303	RGD			PMID:24131658|PMID:28347255|REF_RGD_ID:151361287|REF_RGD_ID:151361294
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:620639	D	RGD:9068941	20220303	RGD		mRNA:increased expression:liver	PMID:7532544|REF_RGD_ID:634202
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1354186	D	RGD:9068941	20220224	RGD			PMID:26389641|REF_RGD_ID:151361140
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1354186	D	RGD:9068941	20220303	RGD			PMID:23696029|PMID:26389641|REF_RGD_ID:151361140|REF_RGD_ID:151361280
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:7474	malignant pleural mesothelioma		ISO	RGD:1354186	D	RGD:9068941	20220303	RGD		protein:increased expression:pleura	PMID:24912849|REF_RGD_ID:151660330
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:7474	malignant pleural mesothelioma	disease_progression	ISO	RGD:1354186	D	RGD:9068941	20220303	RGD			PMID:22199264|REF_RGD_ID:151361201
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:620639	D	RGD:9068941	20220225	RGD		protein:increased expression:spinal cord	PMID:19388351|REF_RGD_ID:151361131
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1354186	D	RGD:9068941	20220303	RGD		associated with gastric adenocarcinoma;protein:increased expression: :	PMID:21501294|REF_RGD_ID:151361203
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:9000081	Lymphatic Metastasis	severity	ISO	RGD:1354186	D	RGD:9068941	20220303	RGD		associated with stomach carcinoma	PMID:25908107|REF_RGD_ID:11052781
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:9000918	Disease Progression	disease_progression	ISO	RGD:1354186	D	RGD:9068941	20220224	RGD		associated with Colorectal Neoplasms	PMID:32359697|REF_RGD_ID:151361139
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1354186	D	RGD:9068941	20220303	RGD			PMID:19018776|REF_RGD_ID:151361278
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:620639	D	RGD:9068941	20220224	RGD		mRNA:increased expression:liver	PMID:17498859|REF_RGD_ID:151357003
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1354186	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26621329
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:9005930	Endotoxemia		ISO	RGD:620639	D	RGD:9068941	20220224	RGD			PMID:26337286|REF_RGD_ID:151361133
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:620639	D	RGD:9068941	20220224	RGD		mRNA:increased expression:right  and left ventricles	PMID:23794090|REF_RGD_ID:151361111
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:9006618	Liver Metastasis	severity	ISO	RGD:620639	D	RGD:9068941	20220224	RGD		associated with colon adenocarcinoma	PMID:11745822|REF_RGD_ID:151361130
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:9006618	Liver Metastasis	severity	ISO	RGD:620639	D	RGD:9068941	20220224	RGD		associated with colon cancer	PMID:11718450|REF_RGD_ID:151361129
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:620639	D	RGD:9068941	20220224	RGD			PMID:9200186|REF_RGD_ID:151357001
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:1354186	D	RGD:9068941	20220303	RGD			PMID:29344181|REF_RGD_ID:151361284
8787312	Slc7a5	solute carrier family 7 member 5	gene	DOID:9281	phenylketonuria		ISO	RGD:1354186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Phenylketonuria	
8787342	Wdr55	WD repeat domain 55	gene	DOID:10534	stomach cancer		ISO	RGD:1603214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8787342	Wdr55	WD repeat domain 55	gene	DOID:1324	lung cancer		ISO	RGD:1603214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8787342	Wdr55	WD repeat domain 55	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787342	Wdr55	WD repeat domain 55	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8787357	Nol4	nucleolar protein 4	gene	DOID:1909	melanoma		ISO	RGD:1321698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8787357	Nol4	nucleolar protein 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8787357	Nol4	nucleolar protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1321698	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8787357	Nol4	nucleolar protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787357	Nol4	nucleolar protein 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8787357	Nol4	nucleolar protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787357	Nol4	nucleolar protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8787380	Smap2	small ArfGAP2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8787380	Smap2	small ArfGAP2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787380	Smap2	small ArfGAP2	gene	DOID:0060058	lymphoma		ISO	RGD:1601981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8787380	Smap2	small ArfGAP2	gene	DOID:10534	stomach cancer		ISO	RGD:1601981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8787380	Smap2	small ArfGAP2	gene	DOID:1324	lung cancer		ISO	RGD:1601981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8787380	Smap2	small ArfGAP2	gene	DOID:3070	high grade glioma		ISO	RGD:1601981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8787380	Smap2	small ArfGAP2	gene	DOID:3275	thymoma		ISO	RGD:1601981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8787380	Smap2	small ArfGAP2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8787380	Smap2	small ArfGAP2	gene	DOID:5041	esophageal cancer		ISO	RGD:1601981	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8787380	Smap2	small ArfGAP2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787380	Smap2	small ArfGAP2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8787400	Eng	endoglin	gene	DOID:0050787	juvenile polyposis syndrome		ISO	RGD:11603654|RGD:11604825|RGD:11634641|RGD:11651852	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome	PMID:28492532
8787400	Eng	endoglin	gene	DOID:0050855	renal fibrosis		ISO	RGD:1593188	D	RGD:9068941	20200609	RGD		associated with Ureteral Obstruction; mRNA, protein:increased expression:kidney (rat)	PMID:16440600|REF_RGD_ID:7248781
8787400	Eng	endoglin	gene	DOID:0050855	renal fibrosis		ISO	RGD:1617632	D	RGD:9068941	20200609	RGD		protein:altered expression:kidney (mouse)	PMID:15033991|REF_RGD_ID:7248783
8787400	Eng	endoglin	gene	DOID:0050855	renal fibrosis	treatment	ISO	RGD:1593188	D	RGD:9068941	20200609	RGD			PMID:15475654|REF_RGD_ID:7248782
8787400	Eng	endoglin	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:1351093	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cerebral arteriovenous malformation	PMID:15879500|PMID:25741868|PMID:28492532|PMID:30120215
8787400	Eng	endoglin	gene	DOID:0060688	arteriovenous malformations of the brain	disease_progression	ISO	RGD:1351093	D	RGD:9068941	20200609	RGD		DNA:polymorphism: : 207G>A(human)	PMID:24876084|REF_RGD_ID:11041171
8787400	Eng	endoglin	gene	DOID:0080718	GNE myopathy		ISO	RGD:1351093	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing	PMID:15266205|PMID:17786384|PMID:22022569
8787400	Eng	endoglin	gene	DOID:10283	prostate cancer	severity	ISO	RGD:1351093	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor, vasculature (human)	PMID:23262399|REF_RGD_ID:7248770
8787400	Eng	endoglin	gene	DOID:1037	lymphoid leukemia	disease_progression	ISO	RGD:1351093	D	RGD:9068941	20200609	RGD			PMID:25030442|REF_RGD_ID:11041170
8787400	Eng	endoglin	gene	DOID:10591	pre-eclampsia		ISO	RGD:1593188	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (rat)	PMID:22763474|REF_RGD_ID:7257530
8787400	Eng	endoglin	gene	DOID:10591	pre-eclampsia		ISO	RGD:1617632	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (mouse)	PMID:23357179|REF_RGD_ID:7248768
8787400	Eng	endoglin	gene	DOID:10591	pre-eclampsia	severity	ISO	RGD:1351093	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:23460287|REF_RGD_ID:7248767
8787400	Eng	endoglin	gene	DOID:10591	pre-eclampsia	treatment	ISO	RGD:1593188	D	RGD:9068941	20200609	RGD			PMID:22308016|REF_RGD_ID:7257524
8787400	Eng	endoglin	gene	DOID:10591	pre-eclampsia	treatment	ISO	RGD:1617632	D	RGD:9068941	20200609	RGD			PMID:20351341|REF_RGD_ID:7248777
8787400	Eng	endoglin	gene	DOID:10604	lactose intolerance		ISO	RGD:1351093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactose intolerance	PMID:17576681|PMID:28492532|PMID:32190976|PMID:9536098
8787400	Eng	endoglin	gene	DOID:10763	hypertension		ISO	RGD:1593188	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney (rat)	PMID:19829664|REF_RGD_ID:4892132
8787400	Eng	endoglin	gene	DOID:10907	microcephaly		ISO	RGD:1351093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:17576681|PMID:28492532|PMID:32190976|PMID:9536098
8787400	Eng	endoglin	gene	DOID:10941	intracranial aneurysm		ISO	RGD:1351093	D	RGD:9068941	20200609	RGD			PMID:10223461|REF_RGD_ID:1580964
8787400	Eng	endoglin	gene	DOID:10941	intracranial aneurysm		ISO	RGD:1351093	D	RGD:9068941	20230525	RGD		DNA:missense mutation:exon 2:c.179-180CC>AA, p.A60E	PMID:19299629|REF_RGD_ID:329845530
8787400	Eng	endoglin	gene	DOID:1115	sarcoma		ISO	RGD:1351093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8787400	Eng	endoglin	gene	DOID:11294	arteriovenous malformation		ISO	RGD:1351093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arteriovenous malformation	PMID:12673790|PMID:16705692|PMID:25741868
8787400	Eng	endoglin	gene	DOID:11294	arteriovenous malformation	susceptibility	ISO	RGD:1351093	D	RGD:9068941	20200609	RGD		associated with Telangiectasia, Hereditary Hemorrhagic;	PMID:8728706|REF_RGD_ID:11041184
8787400	Eng	endoglin	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1351093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrotic range proteinuria	PMID:17576681|PMID:28492532|PMID:32190976|PMID:9536098
8787400	Eng	endoglin	gene	DOID:12361	Graves' disease		ISO	RGD:1351093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Graves disease	PMID:17576681|PMID:28492532|PMID:32190976|PMID:9536098
8787400	Eng	endoglin	gene	DOID:12466	secondary hyperparathyroidism		ISO	RGD:1351093	D	RGD:9068941	20200609	RGD		associated with Renal Insufficiency, Chronic; protein:increased expression:parathyroid gland, vasculature (human)	PMID:18398016|REF_RGD_ID:7248778
8787400	Eng	endoglin	gene	DOID:1270	hereditary hemorrhagic telangiectasia		ISO	RGD:1351093	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia	PMID:10545596|PMID:10625079|PMID:10702408|PMID:10749981|PMID:10751092|PMID:10982033|PMID:11343967|PMID:11440987|PMID:11793473|PMID:12667943|PMID:12673790|PMID:12786761|PMID:12920067|PMID:14526373|PMID:14972453|PMID:15024723|PMID:15115879|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15520401|PMID:15521985|PMID:15712270|PMID:15712271|PMID:15849752|PMID:15879500|PMID:15880681|PMID:15907823|PMID:15993872|PMID:16199547|PMID:16287957|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16542389|PMID:16611099|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16754821|PMID:17384219|PMID:17525106|PMID:17576210|PMID:17576681|PMID:17719943|PMID:17786384|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19270816|PMID:19299629|PMID:19508727|PMID:19767588|PMID:20414677|PMID:20656886|PMID:20719417|PMID:20813596|PMID:20824275|PMID:21158752|PMID:21402931|PMID:21415079|PMID:21967607|PMID:21987708|PMID:22022569|PMID:22192717|PMID:22385575|PMID:22656258|PMID:22722545|PMID:22991266|PMID:23298310|PMID:23399955|PMID:23535011|PMID:23710379|PMID:23722869|PMID:23801935|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24267784|PMID:24603890|PMID:24921008|PMID:25080347|PMID:25312062|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25640679|PMID:25674101|PMID:25741868|PMID:25760803|PMID:25868896|PMID:25970827|PMID:26167679|PMID:26387786|PMID:26395556|PMID:26811476|PMID:26820968|PMID:27146957|PMID:27260700|PMID:28231770|PMID:28492532|PMID:28564608|PMID:28655553|PMID:28989145|PMID:29146883|PMID:29171923|PMID:29339534|PMID:29398197|PMID:29483005|PMID:29631995|PMID:29650961|PMID:29743074|PMID:30029678|PMID:30073140|PMID:30120215|PMID:30251589|PMID:30578383|PMID:30701124|PMID:30763665|PMID:31400083|PMID:31455059|PMID:31630786|PMID:31727138|PMID:32190976|PMID:32300199|PMID:32303606|PMID:32503579|PMID:32573726|PMID:32581362|PMID:33919892|PMID:34377910|PMID:8162075|PMID:8595426|PMID:9157574|PMID:9245986|PMID:9366572|PMID:9536098|PMID:9554745
8787400	Eng	endoglin	gene	DOID:1270	hereditary hemorrhagic telangiectasia		ISO	RGD:1351093	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler-Rendu-Weber disease	PMID:10545596|PMID:10625079|PMID:10702408|PMID:10749981|PMID:10751092|PMID:10982033|PMID:11343967|PMID:11440987|PMID:11793473|PMID:12667943|PMID:12673790|PMID:12786761|PMID:12920067|PMID:14526373|PMID:14972453|PMID:15024723|PMID:15115879|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15520401|PMID:15521985|PMID:15712270|PMID:15712271|PMID:15849752|PMID:15879500|PMID:15880681|PMID:15907823|PMID:15993872|PMID:16199547|PMID:16287957|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16542389|PMID:16611099|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16754821|PMID:17384219|PMID:17525106|PMID:17576210|PMID:17576681|PMID:17719943|PMID:17786384|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19270816|PMID:19299629|PMID:19508727|PMID:19767588|PMID:20412114|PMID:20414677|PMID:20656886|PMID:20719417|PMID:20813596|PMID:20824275|PMID:21158752|PMID:21402931|PMID:21415079|PMID:21967607|PMID:21987708|PMID:22022569|PMID:22192717|PMID:22385575|PMID:22656258|PMID:22722545|PMID:22991266|PMID:23298310|PMID:23399955|PMID:23535011|PMID:23710379|PMID:23722869|PMID:23801935|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24267784|PMID:24603890|PMID:24921008|PMID:25080347|PMID:25312062|PMID:25326635|PMID:25637381|PMID:25640679|PMID:25674101|PMID:25741868|PMID:25760803|PMID:25868896|PMID:25970827|PMID:26167679|PMID:26387786|PMID:26395556|PMID:26811476|PMID:26820968|PMID:27146957|PMID:27260700|PMID:27884767|PMID:28231770|PMID:28492532|PMID:28564608|PMID:28655553|PMID:28989145|PMID:29146883|PMID:29171923|PMID:29339534|PMID:29398197|PMID:29483005|PMID:29631995|PMID:29650961|PMID:29743074|PMID:30029678|PMID:30073140|PMID:30120215|PMID:30251589|PMID:30578383|PMID:30578397|PMID:30665703|PMID:30701124|PMID:30763665|PMID:31019283|PMID:31400083|PMID:31455059|PMID:31630786|PMID:31727138|PMID:32190976|PMID:32300199|PMID:32303606|PMID:32503579|PMID:32573726|PMID:32581362|PMID:33919892|PMID:34377910|PMID:34872578|PMID:8162075|PMID:8595426|PMID:9157574|PMID:9245986|PMID:9366572|PMID:9536098|PMID:9554745
8787400	Eng	endoglin	gene	DOID:1270	hereditary hemorrhagic telangiectasia		ISO	RGD:1351093	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: Osler-Rendu-Weber disease	PMID:10545596|PMID:10625079|PMID:10702408|PMID:10749981|PMID:10751092|PMID:10982033|PMID:11343967|PMID:11440987|PMID:11793473|PMID:12667943|PMID:12673790|PMID:12786761|PMID:12920067|PMID:14526373|PMID:14972453|PMID:15024723|PMID:15115879|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15520401|PMID:15521985|PMID:15712270|PMID:15712271|PMID:15849752|PMID:15879500|PMID:15880681|PMID:15907823|PMID:15993872|PMID:16199547|PMID:16287957|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16542389|PMID:16611099|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16754821|PMID:17384219|PMID:17525106|PMID:17576210|PMID:17576681|PMID:17719943|PMID:17786384|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19270816|PMID:19299629|PMID:19508727|PMID:19767588|PMID:20412114|PMID:20414677|PMID:20656886|PMID:20719417|PMID:20813596|PMID:20824275|PMID:21158752|PMID:21402931|PMID:21415079|PMID:21967607|PMID:21987708|PMID:22022569|PMID:22192717|PMID:22385575|PMID:22656258|PMID:22722545|PMID:22991266|PMID:23298310|PMID:23399955|PMID:23535011|PMID:23710379|PMID:23722869|PMID:23801935|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24267784|PMID:24603890|PMID:24921008|PMID:25080347|PMID:25312062|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25640679|PMID:25674101|PMID:25741868|PMID:25760803|PMID:25868896|PMID:25970827|PMID:26167679|PMID:26387786|PMID:26395556|PMID:26811476|PMID:26820968|PMID:27146957|PMID:27260700|PMID:27884767|PMID:28231770|PMID:28492532|PMID:28564608|PMID:28655553|PMID:28989145|PMID:29146883|PMID:29171923|PMID:29339534|PMID:29398197|PMID:29483005|PMID:29631995|PMID:29650961|PMID:29743074|PMID:30029678|PMID:30073140|PMID:30120215|PMID:30251589|PMID:30578383|PMID:30578397|PMID:30665703|PMID:30701124|PMID:30763665|PMID:31019283|PMID:31400083|PMID:31455059|PMID:31630786|PMID:31727138|PMID:32190976|PMID:32300199|PMID:32303606|PMID:32503579|PMID:32514857|PMID:32573726|PMID:32581362|PMID:32933640|PMID:33919892|PMID:34377910|PMID:34872578|PMID:35346192|PMID:8162075|PMID:8595426|PMID:9157574|PMID:9245986|PMID:9366572|PMID:9536098|PMID:9554745
8787400	Eng	endoglin	gene	DOID:1270	hereditary hemorrhagic telangiectasia		ISO	RGD:1351093	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: Osler-Rendu-Weber disease	PMID:10545596|PMID:10625079|PMID:10702408|PMID:10749981|PMID:10751092|PMID:10982033|PMID:11343967|PMID:11440987|PMID:11793473|PMID:12667943|PMID:12673790|PMID:12786761|PMID:12920067|PMID:13043988|PMID:14526373|PMID:14972453|PMID:15024723|PMID:15115879|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15520401|PMID:15521985|PMID:15712270|PMID:15712271|PMID:15849752|PMID:15879500|PMID:15880681|PMID:15907823|PMID:15993872|PMID:16199547|PMID:16287957|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16542389|PMID:16611099|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16754821|PMID:17384219|PMID:17525106|PMID:17576210|PMID:17576681|PMID:17719943|PMID:17786384|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19270816|PMID:19299629|PMID:19508727|PMID:19767588|PMID:20301525|PMID:20412114|PMID:20414677|PMID:20656886|PMID:20719417|PMID:20813596|PMID:20824275|PMID:21158752|PMID:21402931|PMID:21415079|PMID:21967607|PMID:21987708|PMID:22022569|PMID:22192717|PMID:22347366|PMID:22385575|PMID:22656258|PMID:22722545|PMID:22991266|PMID:23046070|PMID:23298310|PMID:23300529|PMID:23399955|PMID:23535011|PMID:23710379|PMID:23722869|PMID:23801935|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24267784|PMID:24603890|PMID:24921008|PMID:25080347|PMID:25312062|PMID:25326635|PMID:25637381|PMID:25640679|PMID:25674101|PMID:25741868|PMID:25760803|PMID:25868896|PMID:25970827|PMID:26167679|PMID:26395556|PMID:26811476|PMID:26820968|PMID:27146957|PMID:27260700|PMID:27884767|PMID:28231770|PMID:28492532|PMID:28564608|PMID:28655553|PMID:28989145|PMID:29146883|PMID:29171923|PMID:29339534|PMID:29398197|PMID:29483005|PMID:29631995|PMID:29650961|PMID:29743074|PMID:30029678|PMID:30073140|PMID:30120215|PMID:30251589|PMID:30578397|PMID:30665703|PMID:30701124|PMID:30763665|PMID:30946035|PMID:31019283|PMID:31400083|PMID:31455059|PMID:31630786|PMID:31727138|PMID:32165824|PMID:32190976|PMID:32300199|PMID:32303606|PMID:32503579|PMID:32514857|PMID:32573726|PMID:32581362|PMID:32847536|PMID:32933640|PMID:33282178|PMID:33919892|PMID:34377910|PMID:34872578|PMID:34900561|PMID:35346192|PMID:7894484|PMID:8162075|PMID:8595426|PMID:9157574|PMID:9245986|PMID:9366572|PMID:9536098|PMID:9554745
8787400	Eng	endoglin	gene	DOID:1270	hereditary hemorrhagic telangiectasia		ISO	RGD:1351093	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler-Rendu-Weber disease	PMID:10545596|PMID:10625079|PMID:10702408|PMID:10749981|PMID:10751092|PMID:10982033|PMID:11343967|PMID:11440987|PMID:11793473|PMID:12667943|PMID:12673790|PMID:12786761|PMID:12920067|PMID:13043988|PMID:14526373|PMID:14972453|PMID:15024723|PMID:15115879|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15520401|PMID:15521985|PMID:15712270|PMID:15712271|PMID:15849752|PMID:15879500|PMID:15880681|PMID:15907823|PMID:15993872|PMID:16199547|PMID:16287957|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16542389|PMID:16611099|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16754821|PMID:17384219|PMID:17525106|PMID:17576210|PMID:17576681|PMID:17719943|PMID:17786384|PMID:18495117|PMID:18498373|PMID:18607909|PMID:18673552|PMID:19270816|PMID:19299629|PMID:19508727|PMID:19767588|PMID:20067780|PMID:20301525|PMID:20412114|PMID:20414677|PMID:20656886|PMID:20719417|PMID:20813596|PMID:20824275|PMID:21158752|PMID:21270786|PMID:21402931|PMID:21415079|PMID:21967607|PMID:21987708|PMID:22022569|PMID:22192717|PMID:22347366|PMID:22385575|PMID:22656258|PMID:22722545|PMID:22991266|PMID:23046070|PMID:23298310|PMID:23300529|PMID:23399955|PMID:23535011|PMID:23710379|PMID:23722869|PMID:23801935|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24267784|PMID:24336440|PMID:24603890|PMID:24921008|PMID:25080347|PMID:25312062|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25640679|PMID:25674101|PMID:25741868|PMID:25760803|PMID:25868896|PMID:25970827|PMID:26167679|PMID:26395556|PMID:26811476|PMID:26820968|PMID:27146957|PMID:27260700|PMID:27884767|PMID:27981572|PMID:28231770|PMID:28492532|PMID:28564608|PMID:28655553|PMID:28989145|PMID:29146883|PMID:29171923|PMID:29339534|PMID:29398197|PMID:29483005|PMID:29631995|PMID:29650961|PMID:29743074|PMID:30029678|PMID:30073140|PMID:30120215|PMID:30251589|PMID:30578397|PMID:30665703|PMID:30701124|PMID:30763665|PMID:30946035|PMID:31019283|PMID:31220907|PMID:31400083|PMID:31455059|PMID:31630786|PMID:31727138|PMID:32190976|PMID:32300199|PMID:32303606|PMID:32503579|PMID:32514857|PMID:32573726|PMID:32581362|PMID:32847536|PMID:32933640|PMID:33282178|PMID:33919892|PMID:34377910|PMID:34501220|PMID:34530633|PMID:34872578|PMID:34880085|PMID:34900561|PMID:35346192|PMID:35587316|PMID:36588762|PMID:36651276|PMID:37848456|PMID:7894484|PMID:8162075|PMID:8595426|PMID:9157574|PMID:9245986|PMID:9366572|PMID:9536098|PMID:9554745
8787400	Eng	endoglin	gene	DOID:1270	hereditary hemorrhagic telangiectasia		ISO	RGD:1351093	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Hemorrhagic Telangiectasia | ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome	PMID:10545596|PMID:10625079|PMID:10702408|PMID:10749981|PMID:10751092|PMID:11440987|PMID:11793473|PMID:12673790|PMID:12786761|PMID:12920067|PMID:15024723|PMID:15266205|PMID:15517393|PMID:15520401|PMID:15521985|PMID:15712270|PMID:15712271|PMID:15879500|PMID:15880681|PMID:15907823|PMID:16199547|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16542389|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:17384219|PMID:17525106|PMID:17576681|PMID:17786384|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19299629|PMID:19508727|PMID:19767588|PMID:20067780|PMID:20301525|PMID:20414677|PMID:20656886|PMID:20824275|PMID:21158752|PMID:21967607|PMID:22022569|PMID:22385575|PMID:22722545|PMID:22991266|PMID:23046070|PMID:23300529|PMID:23535011|PMID:23710379|PMID:23801935|PMID:23805858|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24267784|PMID:24921008|PMID:25080347|PMID:25312062|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25868896|PMID:25970827|PMID:26395556|PMID:26820968|PMID:27146957|PMID:27260700|PMID:28231770|PMID:28492532|PMID:28564608|PMID:29171923|PMID:29483005|PMID:29631995|PMID:29743074|PMID:30251589|PMID:30578397|PMID:31220907|PMID:31400083|PMID:31455059|PMID:31630786|PMID:32190976|PMID:32300199|PMID:32503579|PMID:32573726|PMID:32847536|PMID:33282178|PMID:34377910|PMID:34872578|PMID:34900561|PMID:36171573|PMID:36250069|PMID:40225928|PMID:8595426|PMID:9157574|PMID:9245986|PMID:9366572|PMID:9536098|PMID:9554745
8787400	Eng	endoglin	gene	DOID:1270	hereditary hemorrhagic telangiectasia	no_association	ISO	RGD:1351093	D	RGD:9068941	20200609	RGD			PMID:10899246|REF_RGD_ID:11041566
8787400	Eng	endoglin	gene	DOID:1272	telangiectasis		ISO	RGD:1351093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telangiectasia	PMID:15879500|PMID:16525724|PMID:16752392|PMID:25741868|PMID:28492532|PMID:31455059|PMID:32300199|PMID:32573726
8787400	Eng	endoglin	gene	DOID:13580	cholestasis		ISO	RGD:1593188	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:21146604|REF_RGD_ID:7257529
8787400	Eng	endoglin	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1351093	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:25741868|PMID:32165824|PMID:32573726
8787400	Eng	endoglin	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1351093	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:25741868|PMID:28492532|PMID:32165824|PMID:32573726
8787400	Eng	endoglin	gene	DOID:1485	cystic fibrosis		ISO	RGD:1351093	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30806029
8787400	Eng	endoglin	gene	DOID:1612	breast cancer	treatment	ISO	RGD:1351093	D	RGD:9068941	20200609	RGD		human tumor in mouse model	PMID:11691802|REF_RGD_ID:7248784
8787400	Eng	endoglin	gene	DOID:1909	melanoma	treatment	ISO	RGD:1617632	D	RGD:9068941	20200609	RGD			PMID:23076642|REF_RGD_ID:7248785
8787400	Eng	endoglin	gene	DOID:3082	interstitial lung disease		ISO	RGD:1351093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Interstitial pneumonitis	PMID:25741868|PMID:28492532
8787400	Eng	endoglin	gene	DOID:3393	coronary artery disease	severity	ISO	RGD:1351093	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (human)	PMID:21667051|REF_RGD_ID:7248776
8787400	Eng	endoglin	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1617632	D	RGD:9068941	20200609	RGD			PMID:24876084|REF_RGD_ID:11041171
8787400	Eng	endoglin	gene	DOID:4467	clear cell renal cell carcinoma	severity	ISO	RGD:1351093	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney, tumor (human)	PMID:16536758|REF_RGD_ID:7248780
8787400	Eng	endoglin	gene	DOID:4467	clear cell renal cell carcinoma	severity	ISO	RGD:1351093	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor, vasculature (human)	PMID:22204709|REF_RGD_ID:7248775
8787400	Eng	endoglin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
8787400	Eng	endoglin	gene	DOID:6000	congestive heart failure		ISO	RGD:1593188	D	RGD:9068941	20200609	RGD		protein:increased expression:heart left ventricle (rat)	PMID:20156938|REF_RGD_ID:7257540
8787400	Eng	endoglin	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:1593188	D	RGD:9068941	20200609	RGD			PMID:20156938|REF_RGD_ID:7257540
8787400	Eng	endoglin	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1617632	D	RGD:9068941	20200609	RGD			PMID:20042709|REF_RGD_ID:11041178
8787400	Eng	endoglin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8787400	Eng	endoglin	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1351093	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma,vitreous body	PMID:16202216|REF_RGD_ID:1580961
8787400	Eng	endoglin	gene	DOID:9000590	Dyspnea		ISO	RGD:1351093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:17576681|PMID:28492532|PMID:32190976|PMID:9536098
8787400	Eng	endoglin	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1617632	D	RGD:9068941	20200609	RGD		protein:increased expression, aortic root, aortic arch, endothelium (mouse)	PMID:17901886|REF_RGD_ID:7257552
8787400	Eng	endoglin	gene	DOID:9000808	Hypercholesterolemia	treatment	ISO	RGD:1617632	D	RGD:9068941	20200609	RGD			PMID:17901886|REF_RGD_ID:7257552
8787400	Eng	endoglin	gene	DOID:9000855	Experimental Radiation Injuries		ISO	RGD:1593188	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung (rat)	PMID:22151990|REF_RGD_ID:7257525
8787400	Eng	endoglin	gene	DOID:9000855	Experimental Radiation Injuries		ISO	RGD:1617632	D	RGD:9068941	20200609	RGD		kidney	PMID:23022174|REF_RGD_ID:7248771
8787400	Eng	endoglin	gene	DOID:9000888	Pregnancy in Diabetics		ISO	RGD:1351093	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression: serum	PMID:18985316|REF_RGD_ID:2313806
8787400	Eng	endoglin	gene	DOID:9001600	Wounds and Injuries	disease_progression	ISO	RGD:1617632	D	RGD:9068941	20200609	RGD			PMID:23349951|REF_RGD_ID:7248769
8787400	Eng	endoglin	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1351093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:17576681|PMID:28492532|PMID:32190976|PMID:9536098
8787400	Eng	endoglin	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1351093	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; mRNA:increased expression:kidney	PMID:19395281|REF_RGD_ID:2313795
8787400	Eng	endoglin	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1351093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:17576681|PMID:28492532|PMID:32190976|PMID:9536098
8787400	Eng	endoglin	gene	DOID:9002350	Hereditary Hemorrhagic Telangiectasia, Type 1		ISO	RGD:1351093	D	RGD:7240710	20180130	OMIM			
8787400	Eng	endoglin	gene	DOID:9002350	Hereditary Hemorrhagic Telangiectasia, Type 1		ISO	RGD:1351093	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ENG-related condition | ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia type 1 | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1	PMID:10625079|PMID:11440987|PMID:12566546|PMID:12673790|PMID:12920067|PMID:14972453|PMID:15024723|PMID:15517393|PMID:15521985|PMID:15712270|PMID:15712271|PMID:15879500|PMID:15907823|PMID:16164574|PMID:16199547|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16611099|PMID:16690726|PMID:16705692|PMID:16752392|PMID:16754821|PMID:17384219|PMID:17576210|PMID:17576681|PMID:17719943|PMID:17786384|PMID:18495117|PMID:18607909|PMID:18673552|PMID:19299629|PMID:20067780|PMID:20301525|PMID:20412114|PMID:20414677|PMID:20656886|PMID:21158752|PMID:22022569|PMID:22385575|PMID:22656258|PMID:22991266|PMID:23046070|PMID:23298310|PMID:23710379|PMID:23801935|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:25080347|PMID:25312062|PMID:25637381|PMID:25741868|PMID:25970827|PMID:27146957|PMID:27323484|PMID:28492532|PMID:28518168|PMID:28564608|PMID:29305977|PMID:29398197|PMID:29483005|PMID:29743074|PMID:30374176|PMID:30665703|PMID:31019283|PMID:31400083|PMID:31455059|PMID:32190976|PMID:32300199|PMID:32461654|PMID:32503579|PMID:32573726|PMID:34008892|PMID:34872578|PMID:34900561|PMID:35587316|PMID:35628811|PMID:36413997|PMID:36588762|PMID:40225928|PMID:8162075|PMID:8595426|PMID:9245986|PMID:9366572|PMID:9536098|PMID:9554745
8787400	Eng	endoglin	gene	DOID:9003674	Chest Pain		ISO	RGD:1351093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chest pain	PMID:17576681|PMID:28492532|PMID:32190976|PMID:9536098
8787400	Eng	endoglin	gene	DOID:9003845	Stress Fractures	disease_progression	ISO	RGD:1593188	D	RGD:9068941	20200609	RGD		protein:increased expression:ulna, vasculature (rat)	PMID:23044046|REF_RGD_ID:7248788
8787400	Eng	endoglin	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1351093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:24033266|PMID:25741868|PMID:28492532
8787400	Eng	endoglin	gene	DOID:9005819	Hereditary Hemorrhagic Telangiectasia, Type 2		ISO	RGD:1351093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oral cavity telangiectasia	PMID:25741868
8787400	Eng	endoglin	gene	DOID:9006065	Arthralgia		ISO	RGD:1351093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:17576681|PMID:28492532|PMID:32190976|PMID:9536098
8787400	Eng	endoglin	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:1617632	D	RGD:9068941	20200609	RGD			PMID:20042709|REF_RGD_ID:11041178
8787400	Eng	endoglin	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1593188	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney (rat)	PMID:16751653|REF_RGD_ID:7248779
8787400	Eng	endoglin	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1617632	D	RGD:9068941	20200609	RGD			PMID:16751653|REF_RGD_ID:7248779
8787400	Eng	endoglin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8787400	Eng	endoglin	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1593188	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:21146604|REF_RGD_ID:7257529
8787400	Eng	endoglin	gene	DOID:9007536	Moyamoya Disease 2		ISO	RGD:1351093	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Moyamoya disease 2	PMID:25741868
8787400	Eng	endoglin	gene	DOID:9008421	Epistaxis		ISO	RGD:1351093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis | ClinVar Annotator: match by term: Spontaneous, recurrent epistaxis	PMID:25741868|PMID:28492532
8787400	Eng	endoglin	gene	DOID:9008939	Breast Neoplasms	treatment	ISO	RGD:1617632	D	RGD:9068941	20200609	RGD			PMID:21431419|REF_RGD_ID:7257526
8787400	Eng	endoglin	gene	DOID:9009117	primary pulmonary hypertension 1		ISO	RGD:1351093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1	PMID:26387786
8787400	Eng	endoglin	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1351093	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Systemic lupus erythematosus	PMID:17576681|PMID:28492532|PMID:32190976|PMID:9536098
8787400	Eng	endoglin	gene	DOID:9256	colorectal cancer		ISO	RGD:1351093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:24033266|PMID:25741868|PMID:28492532
8787400	Eng	endoglin	gene	DOID:9538	multiple myeloma	severity	ISO	RGD:1351093	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:23576184|REF_RGD_ID:11041181
8787400	Eng	endoglin	gene	DOID:9563	bronchiectasis		ISO	RGD:1351093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiectasis	PMID:17576681|PMID:28492532|PMID:32190976|PMID:9536098
8787400	Eng	endoglin	gene	DOID:9952	acute lymphoblastic leukemia	disease_progression	ISO	RGD:1351093	D	RGD:9068941	20200609	RGD			PMID:17572488|REF_RGD_ID:11041565
8787425	Pcolce2	procollagen C-endopeptidase enhancer 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8787425	Pcolce2	procollagen C-endopeptidase enhancer 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8787425	Pcolce2	procollagen C-endopeptidase enhancer 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8787425	Pcolce2	procollagen C-endopeptidase enhancer 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787425	Pcolce2	procollagen C-endopeptidase enhancer 2	gene	DOID:670	amphetamine abuse		ISO	RGD:1346123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
8787425	Pcolce2	procollagen C-endopeptidase enhancer 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8787425	Pcolce2	procollagen C-endopeptidase enhancer 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787441	Slc24a2	solute carrier family 24 member 2	gene	DOID:0060058	lymphoma		ISO	RGD:730928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8787441	Slc24a2	solute carrier family 24 member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8787441	Slc24a2	solute carrier family 24 member 2	gene	DOID:1324	lung cancer		ISO	RGD:730928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8787441	Slc24a2	solute carrier family 24 member 2	gene	DOID:3275	thymoma		ISO	RGD:730928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8787441	Slc24a2	solute carrier family 24 member 2	gene	DOID:4362	cervical cancer		ISO	RGD:730928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8787441	Slc24a2	solute carrier family 24 member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:730928	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8787441	Slc24a2	solute carrier family 24 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787441	Slc24a2	solute carrier family 24 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787441	Slc24a2	solute carrier family 24 member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8787459	Spata21	spermatogenesis associated 21	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787459	Spata21	spermatogenesis associated 21	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1602628	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8787459	Spata21	spermatogenesis associated 21	gene	DOID:1324	lung cancer		ISO	RGD:1602628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8787459	Spata21	spermatogenesis associated 21	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8787459	Spata21	spermatogenesis associated 21	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8787459	Spata21	spermatogenesis associated 21	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1602628	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
8787459	Spata21	spermatogenesis associated 21	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8787493	Bnip1	BCL2 interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8787493	Bnip1	BCL2 interacting protein 1	gene	DOID:0112280	spondyloepiphyseal dysplasia		ISO	RGD:732440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia	PMID:25741868
8787493	Bnip1	BCL2 interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:732440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8787493	Bnip1	BCL2 interacting protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8787493	Bnip1	BCL2 interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:732440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8787493	Bnip1	BCL2 interacting protein 1	gene	DOID:14250	Down syndrome		ISO	RGD:732440	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:amniotic fluid cell:	PMID:15716609|REF_RGD_ID:14398459
8787493	Bnip1	BCL2 interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787493	Bnip1	BCL2 interacting protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8787493	Bnip1	BCL2 interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787493	Bnip1	BCL2 interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8787493	Bnip1	BCL2 interacting protein 1	gene	DOID:9009391	Spondylopeiphyseal dysplasia, Holling type		ISO	RGD:732440	D	RGD:7240710	20251001	OMIM			
8787493	Bnip1	BCL2 interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8787504	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8787504	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787504	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:10534	stomach cancer		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8787504	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8787504	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:1324	lung cancer		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8787504	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:1909	melanoma		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8787504	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604633	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8787504	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:3275	thymoma		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8787504	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:4362	cervical cancer		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8787504	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8787504	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604633	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8787504	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8787504	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787504	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8787504	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787504	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8787504	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8787504	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:9256	colorectal cancer		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8787536	Lpin3	lipin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787536	Lpin3	lipin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1342644	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8787536	Lpin3	lipin 3	gene	DOID:1324	lung cancer		ISO	RGD:1342644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8787536	Lpin3	lipin 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8787536	Lpin3	lipin 3	gene	DOID:4362	cervical cancer		ISO	RGD:1342644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8787536	Lpin3	lipin 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8787536	Lpin3	lipin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1342644	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8787536	Lpin3	lipin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787536	Lpin3	lipin 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8787536	Lpin3	lipin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787536	Lpin3	lipin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8787567	Vwa5a	von Willebrand factor A domain containing 5A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787567	Vwa5a	von Willebrand factor A domain containing 5A	gene	DOID:10534	stomach cancer		ISO	RGD:1323359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8787567	Vwa5a	von Willebrand factor A domain containing 5A	gene	DOID:1115	sarcoma		ISO	RGD:1323359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8787567	Vwa5a	von Willebrand factor A domain containing 5A	gene	DOID:1324	lung cancer		ISO	RGD:1323359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
8787567	Vwa5a	von Willebrand factor A domain containing 5A	gene	DOID:1909	melanoma		ISO	RGD:1323359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8787567	Vwa5a	von Willebrand factor A domain containing 5A	gene	DOID:3275	thymoma		ISO	RGD:1323359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8787567	Vwa5a	von Willebrand factor A domain containing 5A	gene	DOID:4362	cervical cancer		ISO	RGD:1323359	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8787567	Vwa5a	von Willebrand factor A domain containing 5A	gene	DOID:5041	esophageal cancer		ISO	RGD:1323359	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8787567	Vwa5a	von Willebrand factor A domain containing 5A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8787567	Vwa5a	von Willebrand factor A domain containing 5A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787567	Vwa5a	von Willebrand factor A domain containing 5A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787567	Vwa5a	von Willebrand factor A domain containing 5A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8787602	Tnfsf11	TNF superfamily member 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787602	Tnfsf11	TNF superfamily member 11	gene	DOID:0080011	bone resorption disease		ISO	RGD:1347343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26319416
8787602	Tnfsf11	TNF superfamily member 11	gene	DOID:0110943	autosomal recessive osteopetrosis 2		ISO	RGD:1347343	D	RGD:7240710	20180130	OMIM			
8787602	Tnfsf11	TNF superfamily member 11	gene	DOID:0110943	autosomal recessive osteopetrosis 2		ISO	RGD:1347343	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 | ClinVar Annotator: match by term: OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM | ClinVar Annotator: match by term: TNFSF11-related condition	PMID:23762088|PMID:25741868|PMID:28492532
8787602	Tnfsf11	TNF superfamily member 11	gene	DOID:11476	osteoporosis		ISO	RGD:1347343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17882678
8787602	Tnfsf11	TNF superfamily member 11	gene	DOID:11476	osteoporosis		ISO	RGD:1347343	D	RGD:9068941	20200609	RGD			PMID:17002564|REF_RGD_ID:1625350
8787602	Tnfsf11	TNF superfamily member 11	gene	DOID:11476	osteoporosis		ISO	RGD:1551655	D	RGD:9068941	20240425	MouseDO		OMIM:166710	
8787602	Tnfsf11	TNF superfamily member 11	gene	DOID:12678	hypercalcemia		ISO	RGD:1347343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15845617
8787602	Tnfsf11	TNF superfamily member 11	gene	DOID:12800	mucopolysaccharidosis VI	treatment	ISO	RGD:620784	D	RGD:9068941	20210514	RGD			PMID:21887218|REF_RGD_ID:39131283
8787602	Tnfsf11	TNF superfamily member 11	gene	DOID:13533	osteopetrosis		ISO	RGD:1347343	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:17632511
8787602	Tnfsf11	TNF superfamily member 11	gene	DOID:5844	myocardial infarction		ISO	RGD:1347343	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18298349|REF_RGD_ID:2302363
8787602	Tnfsf11	TNF superfamily member 11	gene	DOID:630	genetic disease		ISO	RGD:1347343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8787602	Tnfsf11	TNF superfamily member 11	gene	DOID:820	myocarditis		ISO	RGD:620784	D	RGD:9068941	20200609	RGD		associated with Autoimmune Diseases;mRNA:increased expression:heart myocardium	PMID:18417124|REF_RGD_ID:2302361
8787602	Tnfsf11	TNF superfamily member 11	gene	DOID:9000927	Alveolar Bone Loss		ISO	RGD:1347343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19249596
8787602	Tnfsf11	TNF superfamily member 11	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:620784	D	RGD:9068941	20230720	RGD		associated with periodontal disease	PMID:33364953|REF_RGD_ID:329956421
8787602	Tnfsf11	TNF superfamily member 11	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:1347343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20731768
8787602	Tnfsf11	TNF superfamily member 11	gene	DOID:9001547	Tibial Fractures		ISO	RGD:620784	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:18592139|REF_RGD_ID:2302324
8787602	Tnfsf11	TNF superfamily member 11	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1347343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16270354
8787602	Tnfsf11	TNF superfamily member 11	gene	DOID:9006081	Osteolysis		ISO	RGD:1347343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18606716
8787602	Tnfsf11	TNF superfamily member 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787602	Tnfsf11	TNF superfamily member 11	gene	DOID:9744	type 1 diabetes mellitus	treatment	ISO	RGD:620784	D	RGD:9068941	20250320	RGD			PMID:31096652|REF_RGD_ID:598092496
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:0060058	lymphoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:0111695	familial adult myoclonic epilepsy 3		ISO	RGD:1343716	D	RGD:7240710	20191127	OMIM			
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:0111695	familial adult myoclonic epilepsy 3		ISO	RGD:1343716	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 3	PMID:25741868
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:1115	sarcoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:1324	lung cancer		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:1909	melanoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:3070	high grade glioma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:3275	thymoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:4362	cervical cancer		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1343716	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8787626	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8787657	Timcc	TIM double twin CX3C motif chaperone	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787657	Timcc	TIM double twin CX3C motif chaperone	gene	DOID:10534	stomach cancer		ISO	RGD:1605923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8787657	Timcc	TIM double twin CX3C motif chaperone	gene	DOID:1115	sarcoma		ISO	RGD:1605923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8787657	Timcc	TIM double twin CX3C motif chaperone	gene	DOID:1324	lung cancer		ISO	RGD:1605923	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8787657	Timcc	TIM double twin CX3C motif chaperone	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8787657	Timcc	TIM double twin CX3C motif chaperone	gene	DOID:9849	Meniere's disease		ISO	RGD:1605923	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: MENIERE DISEASE	PMID:25305078
8787685	Hoxa11	homeobox A11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8787685	Hoxa11	homeobox A11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787685	Hoxa11	homeobox A11	gene	DOID:11111	hydronephrosis		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:35253374
8787685	Hoxa11	homeobox A11	gene	DOID:13938	amenorrhea		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:35253374
8787685	Hoxa11	homeobox A11	gene	DOID:2213	hemorrhagic disease		ISO	RGD:735680	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	
8787685	Hoxa11	homeobox A11	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:735680	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:35253374
8787685	Hoxa11	homeobox A11	gene	DOID:4362	cervical cancer		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8787685	Hoxa11	homeobox A11	gene	DOID:557	kidney disease		ISO	RGD:735680	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7596412
8787685	Hoxa11	homeobox A11	gene	DOID:784	chronic kidney disease		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:35253374
8787685	Hoxa11	homeobox A11	gene	DOID:9001611	Urogenital Abnormalities		ISO	RGD:735680	D	RGD:8554872	20240305	ClinVar		ClinVar Annotator: match by term: Inherited genitourinary tract anomalies	PMID:32666543
8787685	Hoxa11	homeobox A11	gene	DOID:9002496	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS	
8787685	Hoxa11	homeobox A11	gene	DOID:9002739	Female Urogenital Diseases		ISO	RGD:735680	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16002989
8787685	Hoxa11	homeobox A11	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1564605	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:verterbra	PMID:18327665|REF_RGD_ID:11354896
8787685	Hoxa11	homeobox A11	gene	DOID:9006251	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1		ISO	RGD:735680	D	RGD:7240710	20190320	OMIM			
8787685	Hoxa11	homeobox A11	gene	DOID:9006251	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1		ISO	RGD:735680	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HOXA11-related condition | ClinVar Annotator: match by term: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 | ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1	PMID:25741868|PMID:28748566
8787685	Hoxa11	homeobox A11	gene	DOID:9006294	Congenital Limb Deformities		ISO	RGD:735680	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7596412
8787685	Hoxa11	homeobox A11	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:735680	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16804899
8787685	Hoxa11	homeobox A11	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:35253374
8787685	Hoxa11	homeobox A11	gene	DOID:9827	radioulnar synostosis		ISO	RGD:735680	D	RGD:9068941	20200609	RGD			PMID:11101832|REF_RGD_ID:11353968
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:0050156	idiopathic pulmonary fibrosis	treatment	ISO	RGD:732419	D	RGD:9068941	20260103	RGD			PMID:35222369|REF_RGD_ID:629142809
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:0050685	small cell carcinoma	severity	ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:15541818|REF_RGD_ID:4892640
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:0080199	colorectal carcinoma	severity	ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:12124825|REF_RGD_ID:4892637
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:0080600	COVID-19		ISO	RGD:732419	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:10286	prostate carcinoma	severity	ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:16372331|REF_RGD_ID:4892641
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:732419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:umbilical cord, serum (human)	PMID:18054022|REF_RGD_ID:4892664
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:10763	hypertension		ISO	RGD:620874	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brainstem, solitary tract nucleus (rat)	PMID:18703386|REF_RGD_ID:4892597
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:11650	bronchopulmonary dysplasia		ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:decreased secretion:lung, secretion (human)	PMID:20558631|REF_RGD_ID:4892651
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:13375	temporal arteritis		ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:10616010|REF_RGD_ID:5024918
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:15763444|REF_RGD_ID:4892634
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:1380	endometrial cancer	severity	ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:17023034|REF_RGD_ID:4892642
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:1612	breast cancer	severity	ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:12889595|REF_RGD_ID:4892603
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:1909	melanoma	severity	ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:16456816|REF_RGD_ID:4892643
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased expression:artery, plaque, macrophage (human)	PMID:10073974|REF_RGD_ID:4892604
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:2378	relapsing-remitting multiple sclerosis		ISO	RGD:732419	D	RGD:9068941	20260122	RGD		protein:increased expression:cerebrospinal fluid	PMID:21159721|REF_RGD_ID:630350389
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:2394	ovarian cancer	severity	ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:plasma (human)	PMID:12883737|REF_RGD_ID:4892638
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:2841	asthma		ISO	RGD:732419	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7	
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:732419	D	RGD:7240710	20190502	OMIM			
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:3068	glioblastoma		ISO	RGD:732419	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21029458
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:3068	glioblastoma		ISO	RGD:732419	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain, tumor (human)	PMID:11161003|REF_RGD_ID:4892621
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:3070	high grade glioma		ISO	RGD:732419	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20506295
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:20656949|REF_RGD_ID:4892658
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:732419	D	RGD:9068941	20260219	RGD		mRNA, protein:increased expression:blood, sputum	PMID:31413557|REF_RGD_ID:632518425
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:3371	chondrosarcoma		ISO	RGD:732419	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor (human)	PMID:12598313|REF_RGD_ID:4892624
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:3393	coronary artery disease		ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:17627189|REF_RGD_ID:4892665
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:3770	pulmonary fibrosis	severity	ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum, lung (human)	PMID:20888745|REF_RGD_ID:4892653
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:20564116|REF_RGD_ID:4892660
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:418	systemic scleroderma		ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:16195162|REF_RGD_ID:4892666
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:5419	schizophrenia		ISO	RGD:732419	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:25741868
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:5419	schizophrenia	susceptibility	ISO	RGD:732419	D	RGD:7240710	20230505	OMIM			
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:5844	myocardial infarction		ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:18480670|REF_RGD_ID:4892633
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:6000	congestive heart failure		ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:plasma (human)	PMID:19961288|REF_RGD_ID:4892629
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:7148	rheumatoid arthritis	severity	ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:10461474|REF_RGD_ID:4892605
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:8398	osteoarthritis		ISO	RGD:732419	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:850	lung disease		ISO	RGD:1552317	D	RGD:9068941	20200609	RGD		Acute Lung Injury	PMID:20558631|REF_RGD_ID:4892651
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:8869	neuromyelitis optica		ISO	RGD:732419	D	RGD:9068941	20260122	RGD		protein:increased expression:cerebrospinal fluid	PMID:21159721|REF_RGD_ID:630350389
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:10515841|REF_RGD_ID:4892626
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:620874	D	RGD:9068941	20260404	RGD		protein:increased expression:condyle of femur, chondrocyte	PMID:25308850|REF_RGD_ID:645122466
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:732419	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor (human)	PMID:11752453|REF_RGD_ID:4892620
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:732419	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21029458
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:9119	acute myeloid leukemia	severity	ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:16361549|REF_RGD_ID:4892644
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:plasma (human)	PMID:21143859|REF_RGD_ID:4892628
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:9470	bacterial meningitis	severity	ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:cerebrospinal fluid (human)	PMID:11986266|REF_RGD_ID:4892662
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:9471	meningitis		ISO	RGD:1552317	D	RGD:9068941	20260404	RGD		associated with angiostrongyliasis;mRNA:increased expression:brain	PMID:29391024|REF_RGD_ID:645122469
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:9471	meningitis		ISO	RGD:620874	D	RGD:9068941	20260404	RGD		associated with angiostrongyliasis;mRNA, protein:increased expression:brain	PMID:29391024|REF_RGD_ID:645122469
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:9538	multiple myeloma	severity	ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:16930142|REF_RGD_ID:4892645
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:9675	pulmonary emphysema		ISO	RGD:1552317	D	RGD:9068941	20200609	RGD			PMID:20656949|REF_RGD_ID:4892658
8787693	Chi3l1	chitinase 3 like 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:732419	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:18957531|REF_RGD_ID:4892627
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:0050562	West syndrome		ISO	RGD:733101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypsarrhythmia	
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:733101	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:0070309	absence epilepsy		ISO	RGD:733101	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:0070435	hyperphosphatasia with impaired intellectual development syndrome 3		ISO	RGD:733101	D	RGD:7240710	20180130	OMIM			
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:0070435	hyperphosphatasia with impaired intellectual development syndrome 3		ISO	RGD:733101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 3	PMID:23561847
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:1059	intellectual disability		ISO	RGD:733101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, profound	
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:10907	microcephaly		ISO	RGD:733101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:12849	autistic disorder		ISO	RGD:733101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:1826	epilepsy		ISO	RGD:733101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:733101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:2234	focal epilepsy		ISO	RGD:733101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733101	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:733101	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:25741868
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:630	genetic disease		ISO	RGD:733101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:38365198|PMID:39687712
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733101	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscle flaccidity	PMID:25741868
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:9005616	Micrognathism		ISO	RGD:733101	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:733101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:9007661	Dwarfism		ISO	RGD:733101	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733101	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:9008675	Dyskinesias		ISO	RGD:733101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:25741868
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:9008972	Hyperammonemia		ISO	RGD:733101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:25741868
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:9008993	Myotonia		ISO	RGD:733101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myotonia	PMID:25741868
8787706	Pgap2	post-GPI attachment to proteins 2	gene	DOID:936	brain disease		ISO	RGD:733101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile encephalopathy	
8787743	CUNH22orf39	chromosome unknown C22orf39 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1606462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8787743	CUNH22orf39	chromosome unknown C22orf39 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787750	Trmt1l	tRNA methyltransferase 1L	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787750	Trmt1l	tRNA methyltransferase 1L	gene	DOID:10534	stomach cancer		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8787750	Trmt1l	tRNA methyltransferase 1L	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8787750	Trmt1l	tRNA methyltransferase 1L	gene	DOID:1909	melanoma		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8787750	Trmt1l	tRNA methyltransferase 1L	gene	DOID:4362	cervical cancer		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8787750	Trmt1l	tRNA methyltransferase 1L	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8787750	Trmt1l	tRNA methyltransferase 1L	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787750	Trmt1l	tRNA methyltransferase 1L	gene	DOID:9003566	Mesothelioma		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8787750	Trmt1l	tRNA methyltransferase 1L	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787750	Trmt1l	tRNA methyltransferase 1L	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8787782	Tctn3	tectonic family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8787782	Tctn3	tectonic family member 3	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1313033	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:22883145|PMID:25118024|PMID:25741868|PMID:26092869|PMID:2692869|PMID:28492532|PMID:35170189|PMID:37217489
8787782	Tctn3	tectonic family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787782	Tctn3	tectonic family member 3	gene	DOID:0060058	lymphoma		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8787782	Tctn3	tectonic family member 3	gene	DOID:0060340	ciliopathy		ISO	RGD:1313033	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: ciliopathy	PMID:22883145|PMID:25118024|PMID:25741868|PMID:2692869|PMID:28492532
8787782	Tctn3	tectonic family member 3	gene	DOID:0060374	orofaciodigital syndrome IV		ISO	RGD:1313033	D	RGD:7240710	20180130	OMIM			
8787782	Tctn3	tectonic family member 3	gene	DOID:0060374	orofaciodigital syndrome IV		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MOHR-MAJEWSKI SYNDROME | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME IV | ClinVar Annotator: match by term: Orofacial-digital syndrome IV	PMID:16199547|PMID:22883145|PMID:24033266|PMID:25118024|PMID:25741868|PMID:26092869|PMID:2692869|PMID:28492532|PMID:35170189|PMID:37217489
8787782	Tctn3	tectonic family member 3	gene	DOID:0110987	Joubert Syndrome 18		ISO	RGD:1313033	D	RGD:7240710	20180130	OMIM			
8787782	Tctn3	tectonic family member 3	gene	DOID:0110987	Joubert Syndrome 18		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 18 | ClinVar Annotator: match by term: Joubert syndrome 18	PMID:16199547|PMID:17576681|PMID:22883145|PMID:25118024|PMID:25741868|PMID:26092869|PMID:2692869|PMID:28333917|PMID:28492532|PMID:35170189|PMID:37217489|PMID:9536098
8787782	Tctn3	tectonic family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8787782	Tctn3	tectonic family member 3	gene	DOID:12849	autistic disorder		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
8787782	Tctn3	tectonic family member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8787782	Tctn3	tectonic family member 3	gene	DOID:2843	long QT syndrome		ISO	RGD:1313033	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8787782	Tctn3	tectonic family member 3	gene	DOID:3275	thymoma		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8787782	Tctn3	tectonic family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8787782	Tctn3	tectonic family member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8787782	Tctn3	tectonic family member 3	gene	DOID:630	genetic disease		ISO	RGD:1313033	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22883145|PMID:25118024|PMID:25741868|PMID:2692869|PMID:28492532
8787782	Tctn3	tectonic family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8787782	Tctn3	tectonic family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787782	Tctn3	tectonic family member 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8787801	Top3b	DNA topoisomerase III beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787801	Top3b	DNA topoisomerase III beta	gene	DOID:10534	stomach cancer		ISO	RGD:1319825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8787801	Top3b	DNA topoisomerase III beta	gene	DOID:1115	sarcoma		ISO	RGD:1319825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8787801	Top3b	DNA topoisomerase III beta	gene	DOID:1909	melanoma		ISO	RGD:1319825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8787801	Top3b	DNA topoisomerase III beta	gene	DOID:3275	thymoma		ISO	RGD:1319825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8787801	Top3b	DNA topoisomerase III beta	gene	DOID:4362	cervical cancer		ISO	RGD:1319825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8787801	Top3b	DNA topoisomerase III beta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8787801	Top3b	DNA topoisomerase III beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1319825	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8787801	Top3b	DNA topoisomerase III beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787801	Top3b	DNA topoisomerase III beta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8787801	Top3b	DNA topoisomerase III beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8787801	Top3b	DNA topoisomerase III beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8787858	Cdk10	cyclin dependent kinase 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787858	Cdk10	cyclin dependent kinase 10	gene	DOID:0070738	Al Kaissi syndrome		ISO	RGD:1312526	D	RGD:7240710	20190315	OMIM			
8787858	Cdk10	cyclin dependent kinase 10	gene	DOID:0070738	Al Kaissi syndrome		ISO	RGD:1312526	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AL KAISSI SYNDROME | ClinVar Annotator: match by term: Al Kaissi syndrome | ClinVar Annotator: match by term: CDK10-related condition | ClinVar Annotator: match by term: GROWTH RETARDATION, SPINE MALFORMATION, DYSMORPHIC FACIES, AND DEVELOPMENTAL DELAY	PMID:25741868|PMID:26539891|PMID:28886341|PMID:29130579
8787858	Cdk10	cyclin dependent kinase 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8787858	Cdk10	cyclin dependent kinase 10	gene	DOID:1115	sarcoma		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8787858	Cdk10	cyclin dependent kinase 10	gene	DOID:1324	lung cancer		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8787858	Cdk10	cyclin dependent kinase 10	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: patent ductus arteriosus	PMID:25741868
8787858	Cdk10	cyclin dependent kinase 10	gene	DOID:1909	melanoma		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8787858	Cdk10	cyclin dependent kinase 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8787858	Cdk10	cyclin dependent kinase 10	gene	DOID:3275	thymoma		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8787858	Cdk10	cyclin dependent kinase 10	gene	DOID:4362	cervical cancer		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8787858	Cdk10	cyclin dependent kinase 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8787858	Cdk10	cyclin dependent kinase 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787858	Cdk10	cyclin dependent kinase 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8787858	Cdk10	cyclin dependent kinase 10	gene	DOID:630	genetic disease		ISO	RGD:1312526	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26539891|PMID:29130579
8787858	Cdk10	cyclin dependent kinase 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787858	Cdk10	cyclin dependent kinase 10	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312526	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8787895	Nog	noggin	gene	DOID:0050788	proximal symphalangism		ISO	RGD:735776	D	RGD:9068941	20201022	RGD			PMID:10080184|REF_RGD_ID:1600234
8787895	Nog	noggin	gene	DOID:0050788	proximal symphalangism		ISO	RGD:735776	D	RGD:9068941	20201022	RGD		DNA:missense mutation:cds:c.499C>T(p.R167C)human	PMID:24326127|REF_RGD_ID:12801479
8787895	Nog	noggin	gene	DOID:0050788	proximal symphalangism		ISO	RGD:735776	D	RGD:9068941	20201022	RGD		DNA:mutations:cds:g.551G>A (p.C184Y),g.386T>A (p.L129X),g.58delC(human)	PMID:11846737|REF_RGD_ID:12801455
8787895	Nog	noggin	gene	DOID:0050788	proximal symphalangism		ISO	RGD:735776	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	
8787895	Nog	noggin	gene	DOID:0050789	tarsal-carpal coalition syndrome		ISO	RGD:735776	D	RGD:7240710	20180130	OMIM			
8787895	Nog	noggin	gene	DOID:0050789	tarsal-carpal coalition syndrome		ISO	RGD:735776	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TARSAL-CARPAL COALITION SYNDROME | ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome	PMID:10080184|PMID:11545688|PMID:17668388|PMID:25741868|PMID:28492532|PMID:29159868
8787895	Nog	noggin	gene	DOID:0061201	Bethlem myopathy 2		ISO	RGD:735776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 2	PMID:25741868
8787895	Nog	noggin	gene	DOID:0080171	esophageal atresia/tracheoesophageal fistula		ISO	RGD:10989	D	RGD:9068941	20200609	RGD			PMID:17260385|REF_RGD_ID:12801454
8787895	Nog	noggin	gene	DOID:0080171	esophageal atresia/tracheoesophageal fistula		ISO	RGD:10989	D	RGD:9068941	20220825	MouseDO		OMIM:189960	
8787895	Nog	noggin	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:735776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:16532400|PMID:25241334
8787895	Nog	noggin	gene	DOID:0080600	COVID-19		ISO	RGD:735776	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8787895	Nog	noggin	gene	DOID:0080787	proximal symphalangism 1		ISO	RGD:735776	D	RGD:7240710	20201021	OMIM			
8787895	Nog	noggin	gene	DOID:0080787	proximal symphalangism 1		ISO	RGD:735776	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Proximal symphalangism 1A | ClinVar Annotator: match by term: SYMPHALANGISM, PROXIMAL, 1A	PMID:10080184|PMID:11545688|PMID:11857750|PMID:17668388|PMID:18440889|PMID:25741868|PMID:28492532
8787895	Nog	noggin	gene	DOID:0081317	multiple synostoses syndrome 1		ISO	RGD:735776	D	RGD:7240710	20180130	OMIM			
8787895	Nog	noggin	gene	DOID:0081317	multiple synostoses syndrome 1		ISO	RGD:735776	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MULTIPLE SYNOSTOSES SYNDROME 1 | ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome	PMID:30311386
8787895	Nog	noggin	gene	DOID:0110975	brachydactyly type B2		ISO	RGD:735776	D	RGD:7240710	20180130	OMIM			
8787895	Nog	noggin	gene	DOID:0110975	brachydactyly type B2		ISO	RGD:735776	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BRACHYDACTYLY, TYPE B2 | ClinVar Annotator: match by term: Brachydactyly type B2	PMID:25741868|PMID:28492532|PMID:34008892
8787895	Nog	noggin	gene	DOID:0110975	brachydactyly type B2	no_association	ISO	RGD:735776	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:p.G92E(human)	PMID:22529972|REF_RGD_ID:12801483
8787895	Nog	noggin	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10989	D	RGD:9068941	20200609	RGD			PMID:19463786|REF_RGD_ID:10414082
8787895	Nog	noggin	gene	DOID:11476	osteoporosis		ISO	RGD:10989	D	RGD:9068941	20200609	RGD			PMID:12975477|REF_RGD_ID:10414323
8787895	Nog	noggin	gene	DOID:12556	acute kidney tubular necrosis		ISO	RGD:3183	D	RGD:9068941	20200609	RGD		associated with Kidney Reperfusion Injury	PMID:16284088|REF_RGD_ID:1601494
8787895	Nog	noggin	gene	DOID:12858	Huntington's disease	treatment	ISO	RGD:735776	D	RGD:9068941	20200609	RGD			PMID:17885687|REF_RGD_ID:10415531
8787895	Nog	noggin	gene	DOID:1882	atrial heart septal defect		ISO	RGD:735776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
8787895	Nog	noggin	gene	DOID:2340	craniosynostosis	treatment	ISO	RGD:735776	D	RGD:9068941	20200609	RGD			PMID:19627528|REF_RGD_ID:8547554
8787895	Nog	noggin	gene	DOID:2378	relapsing-remitting multiple sclerosis		ISO	RGD:735776	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:mononuclear cell"	PMID:21111488|REF_RGD_ID:12801480
8787895	Nog	noggin	gene	DOID:5394	prolactinoma		ISO	RGD:10989	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:pituitary	PMID:12552124|REF_RGD_ID:629544
8787895	Nog	noggin	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:735776	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
8787895	Nog	noggin	gene	DOID:630	genetic disease		ISO	RGD:735776	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16532400|PMID:25241334|PMID:25741868|PMID:28492532
8787895	Nog	noggin	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:10989	D	RGD:9068941	20200609	RGD			PMID:18221366|REF_RGD_ID:10429192
8787895	Nog	noggin	gene	DOID:9001240	Peripheral Nerve Injuries	treatment	ISO	RGD:10989	D	RGD:9068941	20200609	RGD			PMID:17258709|REF_RGD_ID:10428775
8787895	Nog	noggin	gene	DOID:9003133	Hypertelorism		ISO	RGD:735776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:16532400|PMID:25241334
8787895	Nog	noggin	gene	DOID:9003483	Conductive Hearing Loss		ISO	RGD:10989	D	RGD:9068941	20200609	RGD			PMID:18096605|REF_RGD_ID:12801451
8787895	Nog	noggin	gene	DOID:9004538	Hearing Loss		ISO	RGD:735776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:16532400|PMID:25241334
8787895	Nog	noggin	gene	DOID:9004791	Stapes Ankylosis with Broad Thumbs and Toes		ISO	RGD:735776	D	RGD:7240710	20200311	OMIM			
8787895	Nog	noggin	gene	DOID:9004791	Stapes Ankylosis with Broad Thumbs and Toes		ISO	RGD:735776	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM | ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes	PMID:12089654|PMID:25741868|PMID:26474326|PMID:28492532|PMID:38177409
8787895	Nog	noggin	gene	DOID:9005367	Arachnodactyly		ISO	RGD:735776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:16532400|PMID:25241334
8787895	Nog	noggin	gene	DOID:9005616	Micrognathism		ISO	RGD:735776	D	RGD:9068941	20200609	RGD		DNA:SNP:rs1348322(human)	PMID:20645637|REF_RGD_ID:12801465
8787895	Nog	noggin	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced		ISO	RGD:3183	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:lung:	PMID:25740156|REF_RGD_ID:12801489
8787895	Nog	noggin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:735776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16532400|PMID:25241334
8787895	Nog	noggin	gene	DOID:9296	cleft lip	susceptibility	ISO	RGD:735776	D	RGD:9068941	20200609	RGD		DNA:SNP: : rs227727 (human)	PMID:25704602|REF_RGD_ID:11251786
8787895	Nog	noggin	gene	DOID:9296	cleft lip	susceptibility	ISO	RGD:735776	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs227731(human)	PMID:25339627|REF_RGD_ID:12801482
8787895	Nog	noggin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:10989	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:aorta	PMID:21193740|REF_RGD_ID:10430114
8787895	Nog	noggin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:3183	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:aorta	PMID:21193740|REF_RGD_ID:10430114
8787895	Nog	noggin	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:10989	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:aorta	PMID:21193740|REF_RGD_ID:10430114
8787895	Nog	noggin	gene	DOID:9834	hyperopia		ISO	RGD:735776	D	RGD:9068941	20200609	RGD		associated with Multiple Synostoses Syndrome 1; DNA:mutation:cds:1426G>C (P.W205C)(Human)	PMID:16151340|REF_RGD_ID:12801467
8787900	Poc1b	POC1 centriolar protein B	gene	DOID:0070311	oligoasthenoteratozoospermia		ISO	RGD:1621944	D	RGD:9068941	20231005	MouseDO			
8787900	Poc1b	POC1 centriolar protein B	gene	DOID:0111026	cone-rod dystrophy 20		ISO	RGD:1350683	D	RGD:7240710	20180130	OMIM			
8787900	Poc1b	POC1 centriolar protein B	gene	DOID:0111026	cone-rod dystrophy 20		ISO	RGD:1350683	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 20	
8787920	Rai1	retinoic acid induced 1	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1318304	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868
8787920	Rai1	retinoic acid induced 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8787920	Rai1	retinoic acid induced 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20981775
8787920	Rai1	retinoic acid induced 1	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1318304	D	RGD:7240710	20180130	OMIM			
8787920	Rai1	retinoic acid induced 1	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1318304	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Chromosome 17p11.2 deletion syndrome | ClinVar Annotator: match by term: Smith-Magenis syndrome	PMID:12652298|PMID:15788730|PMID:21857958|PMID:22578325|PMID:24033266|PMID:25087610|PMID:25741868|PMID:26467025|PMID:27082237|PMID:27884173|PMID:28135719|PMID:28166811|PMID:28492532|PMID:29758562|PMID:31690835
8787920	Rai1	retinoic acid induced 1	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1318304	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: RAI1-related condition | ClinVar Annotator: match by term: Smith-Magenis syndrome	PMID:12652298|PMID:15788730|PMID:18414213|PMID:21857958|PMID:22578325|PMID:24033266|PMID:24715852|PMID:25087610|PMID:25741868|PMID:26467025|PMID:27082237|PMID:27884173|PMID:28057753|PMID:28135719|PMID:28492532|PMID:29458409|PMID:29758562|PMID:29794985|PMID:31690835|PMID:32343762|PMID:35887114|PMID:8841119
8787920	Rai1	retinoic acid induced 1	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1318304	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: RAI1-related condition | ClinVar Annotator: match by term: Smith-Magenis syndrome	PMID:12652298|PMID:15788730|PMID:18414213|PMID:21857958|PMID:22578325|PMID:24033266|PMID:24715852|PMID:25087610|PMID:25741868|PMID:26467025|PMID:27082237|PMID:27884173|PMID:28057753|PMID:28492532|PMID:29458409|PMID:29758562|PMID:29794985|PMID:31690835|PMID:32343762|PMID:35887114|PMID:8841119
8787920	Rai1	retinoic acid induced 1	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1318304	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHROMOSOME 17p11.2 DELETION SYNDROME | ClinVar Annotator: match by term: Chromosome 17p11.2 deletion syndrome | ClinVar Annotator: match by term: RAI1-related condition | ClinVar Annotator: match by term: SMITH-MAGENIS SYNDROME | ClinVar Annotator: match by term: Smith-Magenis syndrome	PMID:12652290|PMID:15565467|PMID:15788730|PMID:21857958|PMID:24033266|PMID:24715852|PMID:25741868|PMID:26467025|PMID:28057753|PMID:28492532|PMID:29758562|PMID:29794985|PMID:31690835|PMID:35887114|PMID:8401506|PMID:8841119
8787920	Rai1	retinoic acid induced 1	gene	DOID:0060853	Potocki-Lupski syndrome		ISO	RGD:1318304	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:17517686
8787920	Rai1	retinoic acid induced 1	gene	DOID:0060853	Potocki-Lupski syndrome		ISO	RGD:1318305	D	RGD:9068941	20250724	MouseDO		OMIM:610883	
8787920	Rai1	retinoic acid induced 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8787920	Rai1	retinoic acid induced 1	gene	DOID:1059	intellectual disability		ISO	RGD:1318304	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25167861|PMID:25741868
8787920	Rai1	retinoic acid induced 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
8787920	Rai1	retinoic acid induced 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8787920	Rai1	retinoic acid induced 1	gene	DOID:1115	sarcoma		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8787920	Rai1	retinoic acid induced 1	gene	DOID:12849	autistic disorder		ISO	RGD:1318304	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
8787920	Rai1	retinoic acid induced 1	gene	DOID:1324	lung cancer		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8787920	Rai1	retinoic acid induced 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	
8787920	Rai1	retinoic acid induced 1	gene	DOID:178	vascular disease		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vascular disorder	
8787920	Rai1	retinoic acid induced 1	gene	DOID:1826	epilepsy		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8787920	Rai1	retinoic acid induced 1	gene	DOID:1909	melanoma		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8787920	Rai1	retinoic acid induced 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18285828
8787920	Rai1	retinoic acid induced 1	gene	DOID:2769	tic disorder		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Phonic tics	PMID:25741868
8787920	Rai1	retinoic acid induced 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8787920	Rai1	retinoic acid induced 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8787920	Rai1	retinoic acid induced 1	gene	DOID:535	sleep disorder		ISO	RGD:1318304	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sleep disorder	PMID:25741868
8787920	Rai1	retinoic acid induced 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8787920	Rai1	retinoic acid induced 1	gene	DOID:630	genetic disease		ISO	RGD:1318304	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12652298|PMID:15565467|PMID:15788730|PMID:21857958|PMID:24033266|PMID:25741868|PMID:25954003|PMID:26467025|PMID:27618451|PMID:28057753|PMID:28490743|PMID:28492532|PMID:8841119
8787920	Rai1	retinoic acid induced 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8787920	Rai1	retinoic acid induced 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
8787920	Rai1	retinoic acid induced 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
8787920	Rai1	retinoic acid induced 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8787920	Rai1	retinoic acid induced 1	gene	DOID:9001366	Psychomotor Agitation		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18285828
8787920	Rai1	retinoic acid induced 1	gene	DOID:9001722	Dysarthria		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
8787920	Rai1	retinoic acid induced 1	gene	DOID:9002111	Dyssomnias		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19752160
8787920	Rai1	retinoic acid induced 1	gene	DOID:9002320	Neurobehavioral Manifestations		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19116176
8787920	Rai1	retinoic acid induced 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318304	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8787920	Rai1	retinoic acid induced 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8787920	Rai1	retinoic acid induced 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:24715852|PMID:25741868
8787920	Rai1	retinoic acid induced 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318304	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8787920	Rai1	retinoic acid induced 1	gene	DOID:9006257	Growth Disorders		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18285828
8787920	Rai1	retinoic acid induced 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787920	Rai1	retinoic acid induced 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8787920	Rai1	retinoic acid induced 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19116176
8787920	Rai1	retinoic acid induced 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318304	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8787920	Rai1	retinoic acid induced 1	gene	DOID:9970	obesity		ISO	RGD:1318304	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
8787949	Ednrb	endothelin receptor type B	gene	DOID:0050600	ABCD syndrome		ISO	RGD:736090	D	RGD:7240710	20260708	OMIM			
8787949	Ednrb	endothelin receptor type B	gene	DOID:0110953	Waardenburg syndrome type 4A		ISO	RGD:736090	D	RGD:7240710	20260708	OMIM			
8787949	Ednrb	endothelin receptor type B	gene	DOID:0110953	Waardenburg syndrome type 4A		ISO	RGD:736090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Waardenburg syndrome type 4A	PMID:10458491|PMID:10664228|PMID:14633923|PMID:17011274|PMID:18162831|PMID:24033266|PMID:25741868|PMID:28236341|PMID:30311386|PMID:8001158|PMID:8852660
8787949	Ednrb	endothelin receptor type B	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:2536	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:	PMID:21915282|REF_RGD_ID:6480217
8787949	Ednrb	endothelin receptor type B	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:736090	D	RGD:7240710	20260708	OMIM			
8787949	Ednrb	endothelin receptor type B	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:736090	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Recessive | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2	PMID:10090908|PMID:10458491|PMID:10528251|PMID:10664228|PMID:10874640|PMID:12628594|PMID:14633923|PMID:16145050|PMID:16199547|PMID:16518596|PMID:16944573|PMID:16954478|PMID:17011274|PMID:17223014|PMID:17554617|PMID:17618893|PMID:18162831|PMID:18633623|PMID:18758497|PMID:19320733|PMID:20009762|PMID:20127975|PMID:21507037|PMID:22993632|PMID:22995991|PMID:24033266|PMID:24311220|PMID:25741868|PMID:26467025|PMID:27535533|PMID:27639823|PMID:28236341|PMID:28492532|PMID:29106856|PMID:29407415|PMID:30218169|PMID:30303587|PMID:30394532|PMID:30936914|PMID:31240788|PMID:32747562|PMID:33095980|PMID:34422713|PMID:35790984|PMID:8001158|PMID:8001159|PMID:8852658|PMID:8852659|PMID:8852660|PMID:9760196
8787949	Ednrb	endothelin receptor type B	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:736090	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2	PMID:10458491|PMID:10664228|PMID:14633923|PMID:17011274|PMID:18162831|PMID:21507037|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8001158|PMID:8852660|PMID:9760196
8787949	Ednrb	endothelin receptor type B	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:736090	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2	PMID:10458491|PMID:10664228|PMID:14633923|PMID:17011274|PMID:18162831|PMID:21507037|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8852660
8787949	Ednrb	endothelin receptor type B	gene	DOID:10487	Hirschsprung's disease	treatment	ISO	RGD:2536	D	RGD:9068941	20200609	RGD			PMID:9739043|REF_RGD_ID:628516
8787949	Ednrb	endothelin receptor type B	gene	DOID:10534	stomach cancer		ISO	RGD:736090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8787949	Ednrb	endothelin receptor type B	gene	DOID:10608	celiac disease		ISO	RGD:736090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Celiac disease	PMID:25741868|PMID:30311386
8787949	Ednrb	endothelin receptor type B	gene	DOID:10762	portal hypertension		ISO	RGD:2536	D	RGD:9068941	20200609	RGD			PMID:17214938|REF_RGD_ID:4892595
8787949	Ednrb	endothelin receptor type B	gene	DOID:10763	hypertension		ISO	RGD:2536	D	RGD:9068941	20200609	RGD			PMID:10749572|REF_RGD_ID:628518
8787949	Ednrb	endothelin receptor type B	gene	DOID:10763	hypertension		ISO	RGD:2536	D	RGD:9068941	20200609	RGD		associated with Uremia	PMID:20144075|REF_RGD_ID:4892284
8787949	Ednrb	endothelin receptor type B	gene	DOID:11372	megacolon		ISO	RGD:2536	D	RGD:9068941	20200609	RGD			PMID:8570650|REF_RGD_ID:628515
8787949	Ednrb	endothelin receptor type B	gene	DOID:12849	autistic disorder		ISO	RGD:736090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:30311386
8787949	Ednrb	endothelin receptor type B	gene	DOID:2527	nephrosis		ISO	RGD:736090	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7756592
8787949	Ednrb	endothelin receptor type B	gene	DOID:2841	asthma		ISO	RGD:10505	D	RGD:9068941	20200609	RGD			PMID:18632188|REF_RGD_ID:4892288
8787949	Ednrb	endothelin receptor type B	gene	DOID:2841	asthma		ISO	RGD:2536	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bronchus, smooth muscle cell	PMID:15245576|REF_RGD_ID:4892324
8787949	Ednrb	endothelin receptor type B	gene	DOID:2841	asthma		ISO	RGD:736090	D	RGD:9068941	20200609	RGD		DNA:polymorphism (human)	PMID:17470272|REF_RGD_ID:4892321
8787949	Ednrb	endothelin receptor type B	gene	DOID:5041	esophageal cancer		ISO	RGD:736090	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8787949	Ednrb	endothelin receptor type B	gene	DOID:5844	myocardial infarction		ISO	RGD:2536	D	RGD:9068941	20200609	RGD			PMID:12524016|REF_RGD_ID:1580948
8787949	Ednrb	endothelin receptor type B	gene	DOID:6000	congestive heart failure		ISO	RGD:736090	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28095452
8787949	Ednrb	endothelin receptor type B	gene	DOID:614	lymphopenia		ISO	RGD:2536	D	RGD:9068941	20200609	RGD			PMID:22975636|REF_RGD_ID:7207471
8787949	Ednrb	endothelin receptor type B	gene	DOID:630	genetic disease		ISO	RGD:736090	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8787949	Ednrb	endothelin receptor type B	gene	DOID:6432	pulmonary hypertension		ISO	RGD:2536	D	RGD:9068941	20200609	RGD			PMID:15243299|PMID:18091567|REF_RGD_ID:1580949|REF_RGD_ID:4892289
8787949	Ednrb	endothelin receptor type B	gene	DOID:6432	pulmonary hypertension		ISO	RGD:736090	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15927975
8787949	Ednrb	endothelin receptor type B	gene	DOID:6432	pulmonary hypertension		ISO	RGD:736090	D	RGD:9068941	20200609	RGD			PMID:20562228|REF_RGD_ID:4144877
8787949	Ednrb	endothelin receptor type B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
8787949	Ednrb	endothelin receptor type B	gene	DOID:900	hepatopulmonary syndrome		ISO	RGD:2536	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:17110505|REF_RGD_ID:4892290
8787949	Ednrb	endothelin receptor type B	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:736090	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8587695
8787949	Ednrb	endothelin receptor type B	gene	DOID:9003546	Total Intestinal Aganglionosis		ISO	RGD:2536	D	RGD:9068941	20250724	RGD			PMID:21915282|PMID:22132166|REF_RGD_ID:6480215|REF_RGD_ID:6480217
8787949	Ednrb	endothelin receptor type B	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2536	D	RGD:9068941	20200609	RGD			PMID:18722366|REF_RGD_ID:4892577
8787949	Ednrb	endothelin receptor type B	gene	DOID:9004538	Hearing Loss		ISO	RGD:736090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hearing loss	
8787949	Ednrb	endothelin receptor type B	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:736090	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26213588
8787949	Ednrb	endothelin receptor type B	gene	DOID:9005027	Waardenburg Syndrome Type 4		ISO	RGD:2536	D	RGD:9068941	20250703	RGD			PMID:21915282|REF_RGD_ID:6480217
8787949	Ednrb	endothelin receptor type B	gene	DOID:9005660	Hypopigmentation		ISO	RGD:2536	D	RGD:9068941	20210219	RGD		compared to LE/Hkv.AR-Ednrbsl	PMID:26796131|REF_RGD_ID:10755346
8787949	Ednrb	endothelin receptor type B	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:736090	D	RGD:9068941	20200609	RGD			PMID:14729387|REF_RGD_ID:1580946
8787949	Ednrb	endothelin receptor type B	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2536	D	RGD:9068941	20200609	RGD			PMID:21048781|REF_RGD_ID:4892332
8787949	Ednrb	endothelin receptor type B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:30311386
8787949	Ednrb	endothelin receptor type B	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:2536	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina	PMID:18600494|REF_RGD_ID:4892579
8787949	Ednrb	endothelin receptor type B	gene	DOID:9008539	Perinatal Death		ISO	RGD:2536	D	RGD:9068941	20210409	RGD			PMID:8570650|REF_RGD_ID:628515
8787949	Ednrb	endothelin receptor type B	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736090	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16244791
8787949	Ednrb	endothelin receptor type B	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:736090	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10693666
8787949	Ednrb	endothelin receptor type B	gene	DOID:9258	Waardenburg syndrome		ISO	RGD:736090	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Waardenburg syndrome	PMID:25741868|PMID:30311386
8787949	Ednrb	endothelin receptor type B	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2536	D	RGD:9068941	20200609	RGD			PMID:19286964|REF_RGD_ID:2313280
8787949	Ednrb	endothelin receptor type B	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736090	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16387788
8787949	Ednrb	endothelin receptor type B	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:736090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:25741868|PMID:30311386
8787961	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8787961	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:0070486	Parkinson's disease 25		ISO	RGD:1318076	D	RGD:7240710	20230906	OMIM			
8787961	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:0070486	Parkinson's disease 25		ISO	RGD:1318076	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PARKINSON DISEASE 25, AUTOSOMAL RECESSIVE EARLY-ONSET, WITH IMPAIRED INTELLECTUAL DEVELOPMENT	
8787961	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:10534	stomach cancer		ISO	RGD:1318076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8787961	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:1115	sarcoma		ISO	RGD:1318076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8787961	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:3070	high grade glioma		ISO	RGD:1318076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8787961	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:4362	cervical cancer		ISO	RGD:1318076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8787961	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8787961	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1318076	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8787961	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:9000918	Disease Progression		ISO	RGD:1318076	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8787961	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8787961	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8787980	Slc8b1	solute carrier family 8 member B1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1565818	D	RGD:9068941	20200609	RGD			PMID:23564126|REF_RGD_ID:9685494
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:736996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25035110
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:0080011	bone resorption disease		ISO	RGD:736996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16769263
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:0080053	pseudohypoparathyroidism type 1A		ISO	RGD:11188	D	RGD:9068941	20220825	MouseDO		OMIM:103580	
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:0080998	acute necrotizing pancreatitis		ISO	RGD:736996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25035110
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:0110976	brachydactyly type E2		ISO	RGD:736996	D	RGD:7240710	20180130	OMIM			
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:0110976	brachydactyly type E2		ISO	RGD:736996	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BRACHYDACTYLY, TYPE E2 | ClinVar Annotator: match by term: Brachydactyly type E2 | ClinVar Annotator: match by term: PTHLH-related condition	PMID:25741868|PMID:25801215|PMID:26640227|PMID:26763883|PMID:28492532|PMID:29947179|PMID:31283647|PMID:38702915
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:1115	sarcoma		ISO	RGD:736996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:12678	hypercalcemia		ISO	RGD:736996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10638776|PMID:11054717|PMID:12358896|PMID:3616618
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:169	neuroendocrine tumor		ISO	RGD:736996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17625444
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:1793	pancreatic cancer		ISO	RGD:736996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17625444
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:736996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17676588
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:4480	achondroplasia		ISO	RGD:11188	D	RGD:9068941	20220825	MouseDO		OMIM:100800	
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:4988	alcoholic pancreatitis		ISO	RGD:736996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22280800
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:630	genetic disease		ISO	RGD:736996	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20170896|PMID:24028571|PMID:25801215|PMID:26640227|PMID:26733284|PMID:26763883|PMID:28211986|PMID:28492532
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:850	lung disease		ISO	RGD:736996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20857298
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:9000067	Congenital Foot Deformities		ISO	RGD:736996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20170896
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:9000139	Superior Vena Cava Syndrome		ISO	RGD:736996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12358896
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:9000197	Edema		ISO	RGD:736996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25035110
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:9002211	Hyperalgesia		ISO	RGD:736996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16769263
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16243370
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:736996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:9004795	Congenital Hand Deformities		ISO	RGD:736996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20170896
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:9006081	Osteolysis		ISO	RGD:736996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11054717
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:9006257	Growth Disorders		ISO	RGD:736996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20170896
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:9007346	Cachexia		ISO	RGD:736996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17878525
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22267197
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL	
8788001	Pthlh	parathyroid hormone like hormone	gene	DOID:9538	multiple myeloma		ISO	RGD:736996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11054717
8788014	Cep295	centrosomal protein 295	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8788014	Cep295	centrosomal protein 295	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1602084	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	
8788014	Cep295	centrosomal protein 295	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788014	Cep295	centrosomal protein 295	gene	DOID:10534	stomach cancer		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8788014	Cep295	centrosomal protein 295	gene	DOID:1115	sarcoma		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8788014	Cep295	centrosomal protein 295	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8788014	Cep295	centrosomal protein 295	gene	DOID:3275	thymoma		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8788014	Cep295	centrosomal protein 295	gene	DOID:4362	cervical cancer		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8788014	Cep295	centrosomal protein 295	gene	DOID:5041	esophageal cancer		ISO	RGD:1602084	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8788014	Cep295	centrosomal protein 295	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788014	Cep295	centrosomal protein 295	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8788014	Cep295	centrosomal protein 295	gene	DOID:9005900	Seckel syndrome 11		ISO	RGD:1602084	D	RGD:7240710	20240424	OMIM			
8788014	Cep295	centrosomal protein 295	gene	DOID:9005900	Seckel syndrome 11		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SECKEL SYNDROME 11 | ClinVar Annotator: match by term: Seckel syndrome 11	PMID:25741868|PMID:38154379
8788014	Cep295	centrosomal protein 295	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8788014	Cep295	centrosomal protein 295	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8788066	Dlgap4	DLG associated protein 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1331940	D	RGD:9068941	20220825	MouseDO			
8788066	Dlgap4	DLG associated protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1605091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8788066	Dlgap4	DLG associated protein 4	gene	DOID:1909	melanoma		ISO	RGD:1605091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8788066	Dlgap4	DLG associated protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1605091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8788066	Dlgap4	DLG associated protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1605091	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8788066	Dlgap4	DLG associated protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788066	Dlgap4	DLG associated protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8788066	Dlgap4	DLG associated protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8788119	Nexmif	neurite extension and migration factor	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
8788119	Nexmif	neurite extension and migration factor	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
8788119	Nexmif	neurite extension and migration factor	gene	DOID:0050840	cervical dystonia		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
8788119	Nexmif	neurite extension and migration factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788119	Nexmif	neurite extension and migration factor	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1614872	D	RGD:9068941	20220825	MouseDO			
8788119	Nexmif	neurite extension and migration factor	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:0070297	primary microcephaly		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
8788119	Nexmif	neurite extension and migration factor	gene	DOID:0070309	absence epilepsy		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:23615299|PMID:25741868|PMID:27568816|PMID:28492532|PMID:34580403
8788119	Nexmif	neurite extension and migration factor	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease, adult type	PMID:23615299|PMID:25741868|PMID:27568816|PMID:28492532|PMID:34580403
8788119	Nexmif	neurite extension and migration factor	gene	DOID:0080918	polymicrogyria		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868
8788119	Nexmif	neurite extension and migration factor	gene	DOID:0112044	non-syndromic X-linked intellectual disability 98		ISO	RGD:1603497	D	RGD:7240710	20180130	OMIM			
8788119	Nexmif	neurite extension and migration factor	gene	DOID:0112044	non-syndromic X-linked intellectual disability 98		ISO	RGD:1603497	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 98 | ClinVar Annotator: match by term: Mental retardation, X-linked 98 | ClinVar Annotator: match by term: NEXMIF-related condition	PMID:15466006|PMID:23615299|PMID:24307393|PMID:25741868|PMID:26467025|PMID:27358180|PMID:27568816|PMID:28492532|PMID:31164858|PMID:33144681|PMID:33144682|PMID:34580403
8788119	Nexmif	neurite extension and migration factor	gene	DOID:1059	intellectual disability		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:23615299|PMID:25741868|PMID:28492532|PMID:32860008|PMID:33144681
8788119	Nexmif	neurite extension and migration factor	gene	DOID:1059	intellectual disability		ISO	RGD:1603497	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:23615299|PMID:25741868|PMID:28492532|PMID:33144681
8788119	Nexmif	neurite extension and migration factor	gene	DOID:10907	microcephaly		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8788119	Nexmif	neurite extension and migration factor	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:11836	clubfoot		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:12128	pica disease		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pica	PMID:25741868
8788119	Nexmif	neurite extension and migration factor	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	
8788119	Nexmif	neurite extension and migration factor	gene	DOID:12849	autistic disorder		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:12859	choreatic disease		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	
8788119	Nexmif	neurite extension and migration factor	gene	DOID:1324	lung cancer		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8788119	Nexmif	neurite extension and migration factor	gene	DOID:1596	depressive disorder		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:1826	epilepsy		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:23615299|PMID:25741868|PMID:27358180|PMID:27568816|PMID:28492532|PMID:34580403
8788119	Nexmif	neurite extension and migration factor	gene	DOID:1827	generalized epilepsy		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:23615299|PMID:25741868|PMID:28492532|PMID:33144681
8788119	Nexmif	neurite extension and migration factor	gene	DOID:2030	anxiety disorder		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:2468	psychotic disorder		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:2841	asthma		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal motor seizure	PMID:25741868
8788119	Nexmif	neurite extension and migration factor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8788119	Nexmif	neurite extension and migration factor	gene	DOID:4362	cervical cancer		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8788119	Nexmif	neurite extension and migration factor	gene	DOID:4428	dyslexia		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:535	sleep disorder		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788119	Nexmif	neurite extension and migration factor	gene	DOID:630	genetic disease		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:6364	migraine		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:6543	acne		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acne	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:8619	recurrent hypersomnia		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypersomnia	PMID:25741868
8788119	Nexmif	neurite extension and migration factor	gene	DOID:8741	seborrheic dermatitis		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seborrheic dermatitis	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9000053	Headache		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9000419	Benign Familial Neonatal Seizures, 1		ISO	RGD:1603497	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Continuous spike and waves during slow-wave sleep syndrome	PMID:23615299|PMID:25741868|PMID:27358180|PMID:28492532|PMID:29693785|PMID:33144681
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9001031	Retrognathia		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9001224	Striae Distensae		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9001510	Funnel Chest		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9001581	Constipation		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9002510	Focal Epilepsy with Speech Disorder and with or without Mental Retardation		ISO	RGD:1603497	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Continuous spike and waves during slow-wave sleep syndrome	PMID:23615299|PMID:25741868|PMID:27358180|PMID:28492532|PMID:29693785|PMID:33144681
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9002580	Metatarsus Varus		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metatarsus adductus	PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9003133	Hypertelorism		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9003507	Premature Birth		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9003703	Coxa Valga		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coxa valga	PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9003816	Macrocephaly		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9004099	Bulimia		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bulimia	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603497	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9004538	Hearing Loss		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9005077	Joint Instability		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:28492532|PMID:34008892
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:25741868
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9007573	Flatfoot		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Calcaneovalgus deformity	PMID:25741868
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9007722	Myoclonus		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:23615299|PMID:25741868|PMID:27568816|PMID:28492532|PMID:33144681|PMID:34580403
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9008023	Memory Disorders		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23615299|PMID:25741868|PMID:27358180|PMID:27568816|PMID:28492532|PMID:34008892|PMID:34580403
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868|PMID:28492532
8788119	Nexmif	neurite extension and migration factor	gene	DOID:9970	obesity		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
8788127	Plekhg3	pleckstrin homology and RhoGEF domain containing G3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8788127	Plekhg3	pleckstrin homology and RhoGEF domain containing G3	gene	DOID:1324	lung cancer		ISO	RGD:1346378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8788127	Plekhg3	pleckstrin homology and RhoGEF domain containing G3	gene	DOID:1909	melanoma		ISO	RGD:1346378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8788127	Plekhg3	pleckstrin homology and RhoGEF domain containing G3	gene	DOID:4362	cervical cancer		ISO	RGD:1346378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8788127	Plekhg3	pleckstrin homology and RhoGEF domain containing G3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8788127	Plekhg3	pleckstrin homology and RhoGEF domain containing G3	gene	DOID:5041	esophageal cancer		ISO	RGD:1346378	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8788127	Plekhg3	pleckstrin homology and RhoGEF domain containing G3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788127	Plekhg3	pleckstrin homology and RhoGEF domain containing G3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8788127	Plekhg3	pleckstrin homology and RhoGEF domain containing G3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8788127	Plekhg3	pleckstrin homology and RhoGEF domain containing G3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8788145	Gltpd2	glycolipid transfer protein domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8788145	Gltpd2	glycolipid transfer protein domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788145	Gltpd2	glycolipid transfer protein domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8788145	Gltpd2	glycolipid transfer protein domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788145	Gltpd2	glycolipid transfer protein domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8788145	Gltpd2	glycolipid transfer protein domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8788145	Gltpd2	glycolipid transfer protein domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8788162	LOC102028461	chromosome unknown open reading frame, human C1orf162	gene	DOID:0080600	COVID-19		ISO	RGD:1604535	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8788162	LOC102028461	chromosome unknown open reading frame, human C1orf162	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8788162	LOC102028461	chromosome unknown open reading frame, human C1orf162	gene	DOID:1909	melanoma		ISO	RGD:1604535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8788162	LOC102028461	chromosome unknown open reading frame, human C1orf162	gene	DOID:5041	esophageal cancer		ISO	RGD:1604535	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8788162	LOC102028461	chromosome unknown open reading frame, human C1orf162	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788162	LOC102028461	chromosome unknown open reading frame, human C1orf162	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8788169	Sf1	splicing factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8788169	Sf1	splicing factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788169	Sf1	splicing factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8788169	Sf1	splicing factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8788169	Sf1	splicing factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1346504	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8788169	Sf1	splicing factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1346504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8788169	Sf1	splicing factor 1	gene	DOID:1909	melanoma		ISO	RGD:1346504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8788169	Sf1	splicing factor 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1346504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:40987292
8788169	Sf1	splicing factor 1	gene	DOID:3070	high grade glioma		ISO	RGD:1346504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8788169	Sf1	splicing factor 1	gene	DOID:326	ischemia		ISO	RGD:620645	D	RGD:9068941	20200609	RGD			PMID:10103072|REF_RGD_ID:727772
8788169	Sf1	splicing factor 1	gene	DOID:3275	thymoma		ISO	RGD:1346504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8788169	Sf1	splicing factor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8788169	Sf1	splicing factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8788169	Sf1	splicing factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346504	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8788169	Sf1	splicing factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8788169	Sf1	splicing factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788169	Sf1	splicing factor 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346504	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8788169	Sf1	splicing factor 1	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1346504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonic seizure	PMID:25741868|PMID:40987292
8788169	Sf1	splicing factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8788169	Sf1	splicing factor 1	gene	DOID:9008268	Enuresis		ISO	RGD:1346504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enuresis	PMID:25741868|PMID:40987292
8788209	Prkd2	protein kinase D2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788209	Prkd2	protein kinase D2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1342931	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8788209	Prkd2	protein kinase D2	gene	DOID:1909	melanoma		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8788209	Prkd2	protein kinase D2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8788209	Prkd2	protein kinase D2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8788209	Prkd2	protein kinase D2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788209	Prkd2	protein kinase D2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8788209	Prkd2	protein kinase D2	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1342931	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18758461
8788209	Prkd2	protein kinase D2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8788209	Prkd2	protein kinase D2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8788209	Prkd2	protein kinase D2	gene	DOID:9256	colorectal cancer		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:0060058	lymphoma		ISO	RGD:1317850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:10486	intestinal atresia		ISO	RGD:1317850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intestinal atresia	PMID:25741868
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:1115	sarcoma		ISO	RGD:1317850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:1909	melanoma		ISO	RGD:1317850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:3275	thymoma		ISO	RGD:1317850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317850	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:630	genetic disease		ISO	RGD:1317850	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11584022|PMID:15733854
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317850	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:9002230	GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY		ISO	RGD:1317850	D	RGD:7240710	20190315	OMIM			
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:9002230	GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY		ISO	RGD:1317850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | ClinVar Annotator: match by term: IARS1-related condition | ClinVar Annotator: match by term: growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	PMID:24706940|PMID:25741868|PMID:27426735|PMID:27891590|PMID:28492532|PMID:29875423|PMID:30369941
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317850	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8788246	Iars1	isoleucyl-tRNA synthetase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8788277	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8788277	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788277	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1315346	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
8788277	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8788277	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8788277	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:1115	sarcoma		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8788277	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:1324	lung cancer		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8788277	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:1909	melanoma		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8788277	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8788277	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315346	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8788277	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8788277	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788277	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8788277	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8788277	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8788277	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8788277	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8788277	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8788336	Zpbp	zona pellucida binding protein	gene	DOID:0070565	spermatogenic failure 66		ISO	RGD:1351452	D	RGD:7240710	20220406	OMIM			
8788336	Zpbp	zona pellucida binding protein	gene	DOID:0070565	spermatogenic failure 66		ISO	RGD:1351452	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 66 | ClinVar Annotator: match by term: ZPBP-related condition | ClinVar Annotator: match by term: spermatogenic failure 66	PMID:25741868
8788336	Zpbp	zona pellucida binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1351452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8788336	Zpbp	zona pellucida binding protein	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1351452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8788336	Zpbp	zona pellucida binding protein	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1351452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8788336	Zpbp	zona pellucida binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8788348	Mrps15	mitochondrial ribosomal protein S15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8788348	Mrps15	mitochondrial ribosomal protein S15	gene	DOID:10534	stomach cancer		ISO	RGD:1347502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8788348	Mrps15	mitochondrial ribosomal protein S15	gene	DOID:1324	lung cancer		ISO	RGD:1347502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8788348	Mrps15	mitochondrial ribosomal protein S15	gene	DOID:1909	melanoma		ISO	RGD:1347502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8788348	Mrps15	mitochondrial ribosomal protein S15	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8788348	Mrps15	mitochondrial ribosomal protein S15	gene	DOID:4362	cervical cancer		ISO	RGD:1347502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8788348	Mrps15	mitochondrial ribosomal protein S15	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8788348	Mrps15	mitochondrial ribosomal protein S15	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8788348	Mrps15	mitochondrial ribosomal protein S15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788348	Mrps15	mitochondrial ribosomal protein S15	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1347502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8788348	Mrps15	mitochondrial ribosomal protein S15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8788361	Cbr3	carbonyl reductase 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320224	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8788361	Cbr3	carbonyl reductase 3	gene	DOID:9003178	Familial Platelet Disorder with Associated Myeloid Malignancy		ISO	RGD:151796458	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	PMID:17237124|PMID:23512985|PMID:28492532
8788361	Cbr3	carbonyl reductase 3	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1320224	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:oral squamous cell carcinoma (human)	PMID:19088887|REF_RGD_ID:2316291
8788368	Dio1	iodothyronine deiodinase 1	gene	DOID:2855	hyperthyroxinemia		ISO	RGD:735269	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3346351
8788368	Dio1	iodothyronine deiodinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:735269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8788368	Dio1	iodothyronine deiodinase 1	gene	DOID:50	thyroid gland disease		ISO	RGD:735269	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17105838
8788368	Dio1	iodothyronine deiodinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788368	Dio1	iodothyronine deiodinase 1	gene	DOID:655	inherited metabolic disorder		ISO	RGD:735269	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17105838
8788368	Dio1	iodothyronine deiodinase 1	gene	DOID:9000651	Abnormal Thyroid Hormone Metabolism 2		ISO	RGD:735269	D	RGD:7240710	20220427	OMIM			
8788368	Dio1	iodothyronine deiodinase 1	gene	DOID:9000651	Abnormal Thyroid Hormone Metabolism 2		ISO	RGD:735269	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: THYROID HORMONE METABOLISM, ABNORMAL, 2	
8788368	Dio1	iodothyronine deiodinase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735269	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980|PMID:25380136
8788368	Dio1	iodothyronine deiodinase 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:2504	D	RGD:9068941	20200609	RGD			PMID:11765219|REF_RGD_ID:727335
8788377	Pde9a	phosphodiesterase 9A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8788377	Pde9a	phosphodiesterase 9A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788377	Pde9a	phosphodiesterase 9A	gene	DOID:10534	stomach cancer		ISO	RGD:733534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8788377	Pde9a	phosphodiesterase 9A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8788377	Pde9a	phosphodiesterase 9A	gene	DOID:12858	Huntington's disease	treatment	ISO	RGD:621035	D	RGD:9068941	20230330	RGD			PMID:25315303|REF_RGD_ID:243048432
8788377	Pde9a	phosphodiesterase 9A	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:733534	D	RGD:9068941	20230325	RGD		protein:increased expression:heart	PMID:25799991|REF_RGD_ID:240550109
8788377	Pde9a	phosphodiesterase 9A	gene	DOID:1324	lung cancer		ISO	RGD:733534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8788377	Pde9a	phosphodiesterase 9A	gene	DOID:3275	thymoma		ISO	RGD:733534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8788377	Pde9a	phosphodiesterase 9A	gene	DOID:5041	esophageal cancer		ISO	RGD:733534	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8788377	Pde9a	phosphodiesterase 9A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788377	Pde9a	phosphodiesterase 9A	gene	DOID:6000	congestive heart failure	severity	ISO	RGD:733534	D	RGD:9068941	20230325	RGD		mRNA:increased expression:heart, peripheral blood mononuclear cell	PMID:33787083|REF_RGD_ID:240191787
8788377	Pde9a	phosphodiesterase 9A	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:621035	D	RGD:9068941	20230325	RGD			PMID:28649129|REF_RGD_ID:241060360
8788377	Pde9a	phosphodiesterase 9A	gene	DOID:8725	vascular dementia	treatment	ISO	RGD:733535	D	RGD:9068941	20230325	RGD			PMID:30916555|REF_RGD_ID:242905183
8788377	Pde9a	phosphodiesterase 9A	gene	DOID:9000543	Death	sexual_dimorphism	ISO	RGD:733534	D	RGD:9068941	20230325	RGD		associated with coronary artery disease;DNA:SNP: :rs8133010 (human)	PMID:35959094|REF_RGD_ID:242905186
8788377	Pde9a	phosphodiesterase 9A	gene	DOID:9003197	Vaso-occlusive Crisis	treatment	ISO	RGD:733535	D	RGD:9068941	20230325	RGD			PMID:22833547|REF_RGD_ID:242905184
8788377	Pde9a	phosphodiesterase 9A	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:621035	D	RGD:9068941	20230325	RGD			PMID:28649129|REF_RGD_ID:241060360
8788377	Pde9a	phosphodiesterase 9A	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:733535	D	RGD:9068941	20230325	RGD			PMID:25799991|PMID:33464954|REF_RGD_ID:240550109|REF_RGD_ID:242905185
8788377	Pde9a	phosphodiesterase 9A	gene	DOID:9006646	Metabolic Syndrome	treatment	ISO	RGD:733535	D	RGD:9068941	20230325	RGD			PMID:34618683|REF_RGD_ID:242170038
8788377	Pde9a	phosphodiesterase 9A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8788377	Pde9a	phosphodiesterase 9A	gene	DOID:9970	obesity	treatment	ISO	RGD:733535	D	RGD:9068941	20230325	RGD			PMID:34618683|REF_RGD_ID:242170038
8788406	Tspan31	tetraspanin 31	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8788406	Tspan31	tetraspanin 31	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8788406	Tspan31	tetraspanin 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788406	Tspan31	tetraspanin 31	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8788406	Tspan31	tetraspanin 31	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8788406	Tspan31	tetraspanin 31	gene	DOID:6846	familial melanoma		ISO	RGD:1320454	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:9536098
8788406	Tspan31	tetraspanin 31	gene	DOID:6846	familial melanoma		ISO	RGD:1320454	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:9536098
8788406	Tspan31	tetraspanin 31	gene	DOID:6846	familial melanoma		ISO	RGD:1320454	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:35264596|PMID:9536098
8788406	Tspan31	tetraspanin 31	gene	DOID:6846	familial melanoma		ISO	RGD:1320454	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25305755|PMID:25318351|PMID:25344691|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27640074|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31784493|PMID:32980694|PMID:34285288|PMID:35264596|PMID:36095024|PMID:36243179|PMID:9536098
8788406	Tspan31	tetraspanin 31	gene	DOID:6846	familial melanoma		ISO	RGD:1320454	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25305755|PMID:25318351|PMID:25344691|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27640074|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31784493|PMID:32980694|PMID:34285288|PMID:34326862|PMID:35264596|PMID:36095024|PMID:36243179|PMID:9536098
8788406	Tspan31	tetraspanin 31	gene	DOID:6846	familial melanoma		ISO	RGD:1320454	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25186627|PMID:25305755|PMID:25318351|PMID:25344691|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27640074|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31784493|PMID:32980694|PMID:34285288|PMID:34326862|PMID:35264596|PMID:36095024|PMID:36243179|PMID:9536098
8788406	Tspan31	tetraspanin 31	gene	DOID:6846	familial melanoma		ISO	RGD:1320454	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25186627|PMID:25305755|PMID:25318351|PMID:25344691|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27640074|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31784493|PMID:32980694|PMID:34285288|PMID:34326862|PMID:35264596|PMID:36095024|PMID:36243179|PMID:38509102|PMID:9536098
8788406	Tspan31	tetraspanin 31	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320454	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29917049|PMID:30093976|PMID:31159747
8788406	Tspan31	tetraspanin 31	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320454	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:9536098
8788406	Tspan31	tetraspanin 31	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320454	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:35264596|PMID:9536098
8788406	Tspan31	tetraspanin 31	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320454	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25305755|PMID:25318351|PMID:25344691|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27640074|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31784493|PMID:32980694|PMID:34285288|PMID:35264596|PMID:36095024|PMID:36243179|PMID:9536098
8788406	Tspan31	tetraspanin 31	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320454	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25186627|PMID:25305755|PMID:25318351|PMID:25344691|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27640074|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31784493|PMID:32980694|PMID:34285288|PMID:34326862|PMID:35264596|PMID:36095024|PMID:36243179|PMID:9536098
8788406	Tspan31	tetraspanin 31	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320454	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25186627|PMID:25305755|PMID:25318351|PMID:25344691|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27640074|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31784493|PMID:32980694|PMID:34285288|PMID:34326862|PMID:35264596|PMID:36095024|PMID:36243179|PMID:38509102|PMID:9536098
8788420	Mapkap1	MAPK associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8788420	Mapkap1	MAPK associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788420	Mapkap1	MAPK associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8788420	Mapkap1	MAPK associated protein 1	gene	DOID:3275	thymoma		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8788420	Mapkap1	MAPK associated protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313344	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8788420	Mapkap1	MAPK associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788420	Mapkap1	MAPK associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8788420	Mapkap1	MAPK associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8788420	Mapkap1	MAPK associated protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8788450	Trim10	tripartite motif containing 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788450	Trim10	tripartite motif containing 10	gene	DOID:2772	irritant dermatitis		ISO	RGD:1349784	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27258892
8788450	Trim10	tripartite motif containing 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8788450	Trim10	tripartite motif containing 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1349784	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8788450	Trim10	tripartite motif containing 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8788464	Airim	AFG2 interacting ribosome maturation factor	gene	DOID:4362	cervical cancer		ISO	RGD:1606277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8788464	Airim	AFG2 interacting ribosome maturation factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8788464	Airim	AFG2 interacting ribosome maturation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788464	Airim	AFG2 interacting ribosome maturation factor	gene	DOID:6039	uveal melanoma		ISO	RGD:1606277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8788464	Airim	AFG2 interacting ribosome maturation factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8788464	Airim	AFG2 interacting ribosome maturation factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8788473	Tubb6	tubulin beta 6 class V	gene	DOID:0060260	ptosis		ISO	RGD:1343714	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
8788473	Tubb6	tubulin beta 6 class V	gene	DOID:0070743	congenital facial palsy with ptosis and velopharyngeal dysfunction		ISO	RGD:1343714	D	RGD:7240710	20190315	OMIM			
8788473	Tubb6	tubulin beta 6 class V	gene	DOID:0070743	congenital facial palsy with ptosis and velopharyngeal dysfunction		ISO	RGD:1343714	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	PMID:25741868
8788473	Tubb6	tubulin beta 6 class V	gene	DOID:1324	lung cancer		ISO	RGD:1343714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8788473	Tubb6	tubulin beta 6 class V	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788473	Tubb6	tubulin beta 6 class V	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1343714	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8788473	Tubb6	tubulin beta 6 class V	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8788500	Slc16a9	solute carrier family 16 member 9	gene	DOID:10534	stomach cancer		ISO	RGD:1347871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8788500	Slc16a9	solute carrier family 16 member 9	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1347871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8788500	Slc16a9	solute carrier family 16 member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788500	Slc16a9	solute carrier family 16 member 9	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1347871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8788500	Slc16a9	solute carrier family 16 member 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8788525	Sox10	SRY-box transcription factor 10	gene	DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia		ISO	RGD:731681	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: marker/mechanism	
8788525	Sox10	SRY-box transcription factor 10	gene	DOID:0090111	PCWH syndrome		ISO	RGD:731681	D	RGD:7240710	20180130	OMIM			
8788525	Sox10	SRY-box transcription factor 10	gene	DOID:0090111	PCWH syndrome	severity	ISO	RGD:731681	D	RGD:9068941	20200609	RGD			PMID:25959061|REF_RGD_ID:12802339
8788525	Sox10	SRY-box transcription factor 10	gene	DOID:0110955	Waardenburg syndrome type 4C		ISO	RGD:731681	D	RGD:7240710	20180130	OMIM			
8788525	Sox10	SRY-box transcription factor 10	gene	DOID:0110956	Waardenburg syndrome type 2E		ISO	RGD:731681	D	RGD:7240710	20180130	OMIM			
8788525	Sox10	SRY-box transcription factor 10	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:735897	D	RGD:9068941	20250724	RGD		DNA:frameshift:cds:	PMID:9560246|REF_RGD_ID:12802335
8788525	Sox10	SRY-box transcription factor 10	gene	DOID:3614	Kallmann syndrome		ISO	RGD:731681	D	RGD:9068941	20250724	RGD		DNA:mutations:cds:	PMID:23643381|REF_RGD_ID:12832748
8788525	Sox10	SRY-box transcription factor 10	gene	DOID:3614	Kallmann syndrome		ISO	RGD:735897	D	RGD:9068941	20250724	MouseDO			
8788525	Sox10	SRY-box transcription factor 10	gene	DOID:9005027	Waardenburg Syndrome Type 4		ISO	RGD:731681	D	RGD:9068941	20200609	RGD		DNA:missense mutations,insertion,deletion:cds:	PMID:9462749|REF_RGD_ID:12832744
8788533	Nrg4	neuregulin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788533	Nrg4	neuregulin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788569	Yif1b	Yip1 interacting factor homolog B, membrane trafficking protein	gene	DOID:10534	stomach cancer		ISO	RGD:1604767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8788569	Yif1b	Yip1 interacting factor homolog B, membrane trafficking protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8788569	Yif1b	Yip1 interacting factor homolog B, membrane trafficking protein	gene	DOID:1909	melanoma		ISO	RGD:1604767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8788569	Yif1b	Yip1 interacting factor homolog B, membrane trafficking protein	gene	DOID:4362	cervical cancer		ISO	RGD:1604767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8788569	Yif1b	Yip1 interacting factor homolog B, membrane trafficking protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8788569	Yif1b	Yip1 interacting factor homolog B, membrane trafficking protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8788569	Yif1b	Yip1 interacting factor homolog B, membrane trafficking protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1604767	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8788569	Yif1b	Yip1 interacting factor homolog B, membrane trafficking protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8788569	Yif1b	Yip1 interacting factor homolog B, membrane trafficking protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788569	Yif1b	Yip1 interacting factor homolog B, membrane trafficking protein	gene	DOID:630	genetic disease		ISO	RGD:1604767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8788569	Yif1b	Yip1 interacting factor homolog B, membrane trafficking protein	gene	DOID:9003570	Kaya-Barakat-Masson Syndrome		ISO	RGD:1604767	D	RGD:7240710	20201223	OMIM			
8788569	Yif1b	Yip1 interacting factor homolog B, membrane trafficking protein	gene	DOID:9003570	Kaya-Barakat-Masson Syndrome		ISO	RGD:1604767	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KAYA-BARAKAT-MASSON SYNDROME | ClinVar Annotator: match by term: Kaya-Barakat-Masson syndrome	PMID:25741868|PMID:32006098
8788569	Yif1b	Yip1 interacting factor homolog B, membrane trafficking protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8788569	Yif1b	Yip1 interacting factor homolog B, membrane trafficking protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:0002116	pterygium		ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:20198298|REF_RGD_ID:8554855
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:70822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:0080001	bone disease		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:17066631|REF_RGD_ID:2315858
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:0080600	COVID-19	severity	ISO	RGD:70822	D	RGD:9068941	20200619	RGD		protein:increased expression:plasma (human)	PMID:31986264|REF_RGD_ID:30309212
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:27228974|REF_RGD_ID:13801017
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:10017	multiple endocrine neoplasia type 1		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:8098714|REF_RGD_ID:2317763
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:70822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:10763	hypertension		ISO	RGD:2609	D	RGD:9068941	20200609	RGD		associated with Aortic Coarctation	PMID:17562191|REF_RGD_ID:8655614
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:10808	gastric ulcer	treatment	ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:9127818|REF_RGD_ID:8655642
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:10964	cholesteatoma of middle ear		ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:11078065|REF_RGD_ID:8547968
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:11908679|REF_RGD_ID:2290291
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:11382	corneal neovascularization		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9301478
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:11382	corneal neovascularization		ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:11437330|REF_RGD_ID:8655668
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:11664	nephrosclerosis		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30818366
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:11714	gestational diabetes		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20421132
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:11832	visual epilepsy		ISO	RGD:70822	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: therapeutic	PMID:21269288
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:1184	nephrotic syndrome		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21441931
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:127	leiomyoma	disease_progression	ISO	RGD:70822	D	RGD:9068941	20200609	RGD		protein:increased expression:uterus	PMID:16139411|REF_RGD_ID:2290287
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:1324	lung cancer		ISO	RGD:70822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:1380	endometrial cancer	disease_progression	ISO	RGD:70822	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:myometrium	PMID:8685603|REF_RGD_ID:2298516
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:1561	cognitive disorder		ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:17955369|REF_RGD_ID:2315912
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:2609	D	RGD:9068941	20240620	RGD			PMID:28821667|PMID:31375540|REF_RGD_ID:405855870|REF_RGD_ID:405855874
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:1596	depressive disorder		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16861106
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:14715109|REF_RGD_ID:8655549
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:70822	D	RGD:9068941	20200609	RGD		protein:increased expression:mammary gland fluid/secretion	PMID:12184408|REF_RGD_ID:8655587
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:1727	retinal vein occlusion		ISO	RGD:2609	D	RGD:9068941	20200609	RGD			PMID:10342378|REF_RGD_ID:8655593
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:12670449|REF_RGD_ID:2317759
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas	PMID:11562741|REF_RGD_ID:2317760
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		protein:increased expression:bile	PMID:11478488|REF_RGD_ID:2317765
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:1793	pancreatic cancer	severity	ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:9293890|REF_RGD_ID:2317762
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:1875	impotence		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:15758817|REF_RGD_ID:2315866
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:2224	essential thrombocythemia		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15682418
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:70822	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ovary	PMID:14613644|REF_RGD_ID:2290288
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:2526	prostate adenocarcinoma	disease_progression	ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:14522896|REF_RGD_ID:2290290
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		protein:decreased expression:urinary bladder	PMID:7549793|REF_RGD_ID:2298517
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:2723	dermatitis		ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:16507899|REF_RGD_ID:8554852
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:2843	long QT syndrome		ISO	RGD:70822	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:3070	high grade glioma		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10673511
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:3213	demyelinating disease		ISO	RGD:70823	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:11020217|REF_RGD_ID:8655565
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:3393	coronary artery disease		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus	PMID:14585103|REF_RGD_ID:2315879
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:3454	brain infarction		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17524524
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:8532703|REF_RGD_ID:8655550
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:2609	D	RGD:9068941	20230610	RGD			PMID:30531687|REF_RGD_ID:329849008
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:18704599|REF_RGD_ID:2317756
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:3587	pancreatic ductal carcinoma	disease_progression	ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:12717266|REF_RGD_ID:2317758
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:365	bladder disease		ISO	RGD:2609	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:urinary bladder	PMID:17763394|REF_RGD_ID:2315846
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8952537
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:4449	macular retinal edema		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus;protein:increased expression:aqueous humor	PMID:17505145|REF_RGD_ID:8655594
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:70822	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:1718278|REF_RGD_ID:2290303
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		protein:increased expression:bile	PMID:11478488|REF_RGD_ID:2317765
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:29660336|REF_RGD_ID:21409755
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17093919
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:557	kidney disease		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8995747
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:5773	oral submucous fibrosis		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16311067
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:2609	D	RGD:9068941	20200609	RGD			PMID:19197140|REF_RGD_ID:2315911
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:19197140|REF_RGD_ID:2315911
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:674	cleft palate		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17963255
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16023256
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:809	cocaine abuse		ISO	RGD:2609	D	RGD:9068941	20240615	RGD		mRNA:increased expression:nucleus accumbens (rat)	PMID:27114539|REF_RGD_ID:405855871
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:823	periapical periodontitis		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16631837
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:83	cataract		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lens, epithelial cell	PMID:19491954|REF_RGD_ID:8554856
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:8549	chronic ulcer of skin		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus	PMID:19638336|REF_RGD_ID:2315843
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:8717	decubitus ulcer		ISO	RGD:2609	D	RGD:9068941	20200609	RGD			PMID:23740668|REF_RGD_ID:8655548
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:8947	diabetic retinopathy		ISO	RGD:2609	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:14975211|REF_RGD_ID:2315875
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:8947	diabetic retinopathy		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron:g.754C>G(human)	PMID:17997184|REF_RGD_ID:2315845
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:8947	diabetic retinopathy		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promotor:g.-553T>A(human)	PMID:18279437|REF_RGD_ID:2315844
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:8947	diabetic retinopathy		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		associated with Pregnancy in Diabetics	PMID:9141532|REF_RGD_ID:2315885
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		protein:increased expression:bile	PMID:11478488|REF_RGD_ID:2317765
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2609	D	RGD:9068941	20210122	RGD			PMID:24968269|REF_RGD_ID:40924652
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:70823	D	RGD:9068941	20200609	RGD			PMID:22407271|REF_RGD_ID:8554853
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9000528	Coronary Disease		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus	PMID:15451784|REF_RGD_ID:2315870
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9000713	Surgical Wound		ISO	RGD:2609	D	RGD:9068941	20240620	RGD			PMID:10947943|REF_RGD_ID:405866183
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Ductal, Breast	PMID:15491965|REF_RGD_ID:8655598
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9000888	Pregnancy in Diabetics		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent	PMID:14706681|REF_RGD_ID:2315876
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9000918	Disease Progression		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12644816
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21269288
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9001044	Choroidal Neovascularization	treatment	ISO	RGD:2609	D	RGD:9068941	20200609	RGD			PMID:10359334|REF_RGD_ID:8655568
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19014962
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9001384	Kaposiform Hemangioendothelioma		ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:14517397|REF_RGD_ID:8655667
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9001472	Nasal Polyps		ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:16720444|REF_RGD_ID:8655569
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9001553	Spinal Cord Compression		ISO	RGD:2609	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:17244329|REF_RGD_ID:8655633
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16116963
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:2609	D	RGD:9068941	20200609	RGD		protein:increased expression:skin	PMID:12533868|REF_RGD_ID:2292211
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11842932
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:16008728|REF_RGD_ID:2315863
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9001600	Wounds and Injuries	treatment	ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:23603001|REF_RGD_ID:8655580
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9001600	Wounds and Injuries	treatment	ISO	RGD:70823	D	RGD:9068941	20200609	RGD			PMID:21402405|REF_RGD_ID:8655582
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:2609	D	RGD:9068941	20200609	RGD			PMID:9561364|REF_RGD_ID:8554857
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9001725	Retina Reperfusion Injury	treatment	ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:14975212|PMID:8125754|REF_RGD_ID:8655585|REF_RGD_ID:8655591
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9001929	Hypoglossal Nerve Injuries		ISO	RGD:2609	D	RGD:9068941	20200609	RGD			PMID:9183688|REF_RGD_ID:8655640
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:19279131|REF_RGD_ID:2315842
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12644816
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9002514	Neointima		ISO	RGD:2609	D	RGD:9068941	20200609	RGD			PMID:8808969|REF_RGD_ID:8655643
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9002560	Penetrating Eye Injuries		ISO	RGD:70823	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina	PMID:9268592|REF_RGD_ID:8655567
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9002589	Bone Fractures		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:8033826|REF_RGD_ID:2315907
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9002605	Delayed Hypersensitivity		ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:16507899|REF_RGD_ID:8554852
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:2609	D	RGD:9068941	20200609	RGD			PMID:9814819|REF_RGD_ID:9831448
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10203697
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9003219	Invasive Pulmonary Aspergillosis	treatment	ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:23303813|REF_RGD_ID:8655596
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15878867
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:2609	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:18196276|REF_RGD_ID:2289364
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10491406
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16526316
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9004210	Tympanic Membrane Perforation		ISO	RGD:2609	D	RGD:9068941	20200609	RGD			PMID:9840508|REF_RGD_ID:8655577
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9004210	Tympanic Membrane Perforation	disease_progression	ISO	RGD:2609	D	RGD:9068941	20200609	RGD			PMID:20015768|REF_RGD_ID:8655595
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9004210	Tympanic Membrane Perforation	treatment	ISS	RGD:70822	D	RGD:11554033|PMID:8969759	20161019	RGD			
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9004237	Hyperoxic Lung Injury		ISO	RGD:2609	D	RGD:9068941	20200609	RGD			PMID:12626345|REF_RGD_ID:11567262
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9005175	Ulcer		ISO	RGD:2609	D	RGD:9068941	20200609	RGD		protein:increased expression, alternative forms:mucosa of stomach	PMID:21600881|REF_RGD_ID:8655658
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9005372	Inflammation		ISO	RGD:2609	D	RGD:9068941	20200609	RGD		associated with Diabetic retinopathy;protein:increased expression:retina	PMID:19474406|REF_RGD_ID:2315840
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9005372	Inflammation		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21087489
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9005605	Arteriovenous Fistula		ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:10541235|REF_RGD_ID:8655590
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19014962
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2609	D	RGD:9068941	20200609	RGD			PMID:10792180|REF_RGD_ID:8655613
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2609	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous humor	PMID:12663474|REF_RGD_ID:2315880
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9005749	Necrosis	treatment	ISO	RGD:70822	D	RGD:9068941	20200609	RGD		associated with Ischemia	PMID:22924373|REF_RGD_ID:8655615
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9006447	Eye Injuries		ISO	RGD:2609	D	RGD:9068941	20200609	RGD		protein:increased expression:lens	PMID:15273655|REF_RGD_ID:8655664
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9006447	Eye Injuries		ISO	RGD:70823	D	RGD:9068941	20200609	RGD			PMID:15273655|REF_RGD_ID:8655664
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12173832|PMID:14583313
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9007402	Gliosis		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21087489
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9007417	Pseudomonas Infections	treatment	ISO	RGD:70822	D	RGD:9068941	20210604	RGD		human protein in mouse model	PMID:26617350|REF_RGD_ID:126928152
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9008091	Optic Nerve Injuries	treatment	ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:14664816|REF_RGD_ID:8554854
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9008763	Femoral Fractures		ISO	RGD:2609	D	RGD:9068941	20200609	RGD			PMID:11704499|REF_RGD_ID:11567258
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9008861	Wound Infection		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:16008728|REF_RGD_ID:2315863
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10646786
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9296	cleft lip		ISO	RGD:70822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17963255
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18279437|REF_RGD_ID:2315844
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9719	neovascular inflammatory vitreoretinopathy		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		associated with Retinal Detachment	PMID:9613386|REF_RGD_ID:8655597
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9741	biliary tract disease		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		protein:increased expression:bile	PMID:11478488|REF_RGD_ID:2317765
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9743	diabetic neuropathy		ISO	RGD:70822	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:16644707|REF_RGD_ID:2315860
8788599	Fgf2	fibroblast growth factor 2	gene	DOID:9810	polyarteritis nodosa		ISO	RGD:70822	D	RGD:9068941	20200609	RGD			PMID:15965421|REF_RGD_ID:8655581
8788609	Apobec1	apolipoprotein B mRNA editing enzyme catalytic subunit 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:2133	D	RGD:9068941	20200609	RGD			PMID:11116209|REF_RGD_ID:1626277
8788609	Apobec1	apolipoprotein B mRNA editing enzyme catalytic subunit 1	gene	DOID:219	colon cancer		ISO	RGD:2133	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:colon	PMID:12020819|REF_RGD_ID:625559
8788609	Apobec1	apolipoprotein B mRNA editing enzyme catalytic subunit 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736126	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8788609	Apobec1	apolipoprotein B mRNA editing enzyme catalytic subunit 1	gene	DOID:916	liver benign neoplasm		ISO	RGD:2133	D	RGD:9068941	20200609	RGD			PMID:9633945|REF_RGD_ID:10755510
8788609	Apobec1	apolipoprotein B mRNA editing enzyme catalytic subunit 1	gene	DOID:9970	obesity		ISO	RGD:2133	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:8781289|REF_RGD_ID:1626278
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:0050591	tooth agenesis		ISO	RGD:731312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligodontia	PMID:25741868
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:0060387	chondrodysplasia Blomstrand type		ISO	RGD:731312	D	RGD:7240710	20190315	OMIM			
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:0060387	chondrodysplasia Blomstrand type		ISO	RGD:731312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHONDRODYSPLASIA, BLOMSTRAND TYPE | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type	PMID:10523019|PMID:21404329|PMID:23771181|PMID:23910200|PMID:25741868|PMID:28492532|PMID:28643929|PMID:31986066|PMID:9649554
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:0080020	Jansen's metaphyseal chondrodysplasia		ISO	RGD:731312	D	RGD:7240710	20190315	OMIM			
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:0080020	Jansen's metaphyseal chondrodysplasia		ISO	RGD:731312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE | ClinVar Annotator: match by term: Metaphyseal chondrodysplasia Murk Jansen type | ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Jansen type	PMID:10487664|PMID:22278430|PMID:23950054|PMID:25741868|PMID:28492532|PMID:7701349
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:0110972	brachydactyly type E1		ISO	RGD:731312	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Brachydactyly type E1	PMID:25741868|PMID:28492532
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:0111341	primary failure of tooth eruption		ISO	RGD:731312	D	RGD:7240710	20190315	OMIM			
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:0111341	primary failure of tooth eruption		ISO	RGD:731312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FAILURE OF TOOTH ERUPTION, PRIMARY | ClinVar Annotator: match by term: POSTERIOR OPENBITE MALOCCLUSION, FAMILIAL | ClinVar Annotator: match by term: Primary failure of tooth eruption	PMID:22278430|PMID:24058597|PMID:25741868|PMID:28492532|PMID:31730001|PMID:7701349
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:0111732	Eiken syndrome		ISO	RGD:731312	D	RGD:7240710	20190315	OMIM			
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:0111732	Eiken syndrome		ISO	RGD:731312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BONE MODELING DEFECT OF HANDS AND FEET | ClinVar Annotator: match by term: EIKEN SYNDROME | ClinVar Annotator: match by term: Eiken syndrome	PMID:25741868|PMID:28492532
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:10534	stomach cancer		ISO	RGD:731312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:10609	rickets		ISO	RGD:731312	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10375030
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:12678	hypercalcemia		ISO	RGD:3442	D	RGD:9068941	20200609	RGD		protein:increased expression:odontoblast; associated with neoplasms	PMID:16036863|REF_RGD_ID:1599980
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:13543	hyperparathyroidism		ISO	RGD:731312	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11014383
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:2256	osteochondrodysplasia	susceptibility	ISO	RGD:731312	D	RGD:9068941	20200609	RGD		DNA:missense mutations:exon; metaphyseal chondrodysplasia, OMIM:156400	PMID:8703170|REF_RGD_ID:1599978
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:3070	high grade glioma		ISO	RGD:731312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:4184	pseudohypoparathyroidism		ISO	RGD:731312	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Pseudohypoparathyroidism	PMID:25741868|PMID:35846276
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:731312	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:630	genetic disease		ISO	RGD:731312	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:65	connective tissue disease		ISO	RGD:731312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731312	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:850	lung disease		ISO	RGD:731312	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20857298
8788630	Pth1r	parathyroid hormone 1 receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8788659	Mymk	myomaker, myoblast fusion factor	gene	DOID:0061115	Carey-Fineman-Ziter syndrome 1		ISO	RGD:3302829	D	RGD:7240710	20220706	OMIM			
8788659	Mymk	myomaker, myoblast fusion factor	gene	DOID:0061115	Carey-Fineman-Ziter syndrome 1		ISO	RGD:3302829	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1	PMID:25741868|PMID:28681861|PMID:29560417|PMID:30016436|PMID:30065953|PMID:32528171|PMID:32573669
8788659	Mymk	myomaker, myoblast fusion factor	gene	DOID:0080194	Carey-Fineman-Ziter syndrome		ISO	RGD:3302829	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CAREY-FINEMAN-ZITER SYNDROME | ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome | ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences	PMID:25741868|PMID:28681861|PMID:29560417|PMID:30065953|PMID:32528171|PMID:32573669
8788659	Mymk	myomaker, myoblast fusion factor	gene	DOID:327	syringomyelia		ISO	RGD:3302829	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Syringomyelia	PMID:25741868|PMID:28681861|PMID:29560417|PMID:30065953|PMID:32528171|PMID:32573669
8788659	Mymk	myomaker, myoblast fusion factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:3302829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8788659	Mymk	myomaker, myoblast fusion factor	gene	DOID:630	genetic disease		ISO	RGD:3302829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8788659	Mymk	myomaker, myoblast fusion factor	gene	DOID:9003816	Macrocephaly		ISO	RGD:3302829	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28681861|PMID:29560417|PMID:30065953|PMID:32528171|PMID:32573669
8788659	Mymk	myomaker, myoblast fusion factor	gene	DOID:9004538	Hearing Loss		ISO	RGD:3302829	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28681861|PMID:29560417|PMID:30065953|PMID:32528171|PMID:32573669
8788659	Mymk	myomaker, myoblast fusion factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:3302829	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28681861|PMID:29560417|PMID:30065953|PMID:32528171|PMID:32573669
8788659	Mymk	myomaker, myoblast fusion factor	gene	DOID:9005616	Micrognathism		ISO	RGD:3302829	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28681861|PMID:29560417|PMID:30065953|PMID:32528171|PMID:32573669
8788673	Mmab	metabolism of cobalamin associated B	gene	DOID:0050452	mevalonic aciduria		ISO	RGD:10056251	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Mevalonic aciduria	PMID:23707710|PMID:28492532
8788673	Mmab	metabolism of cobalamin associated B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788673	Mmab	metabolism of cobalamin associated B	gene	DOID:0060743	methylmalonic acidemia cblB type		ISO	RGD:1347796	D	RGD:7240710	20180130	OMIM			
8788673	Mmab	metabolism of cobalamin associated B	gene	DOID:0060743	methylmalonic acidemia cblB type		ISO	RGD:1347796	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, cblB TYPE | ClinVar Annotator: match by term: MMAB-related condition | ClinVar Annotator: match by term: Methylmalonic acidemia cblB type | ClinVar Annotator: match by term: Methylmalonic aciduria cblB type | ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type	PMID:12471062|PMID:15044458|PMID:15781192|PMID:16199547|PMID:16311595|PMID:16410054|PMID:16439175|PMID:17176040|PMID:17410422|PMID:17576681|PMID:17948227|PMID:17957493|PMID:18251506|PMID:18452306|PMID:19625202|PMID:20301409|PMID:20549364|PMID:20556797|PMID:20696242|PMID:21048060|PMID:21604717|PMID:22614770|PMID:22695176|PMID:23674520|PMID:23707710|PMID:24033266|PMID:24059531|PMID:24813872|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25760844|PMID:27591164|PMID:28468868|PMID:28492532|PMID:29039164|PMID:29197662|PMID:30022420|PMID:30041674|PMID:30626930|PMID:30712249|PMID:31260114|PMID:31525265|PMID:31622506|PMID:33453710|PMID:33552909|PMID:34056100|PMID:34757128|PMID:34796408|PMID:35614015|PMID:36964972|PMID:39633313|PMID:9536098
8788673	Mmab	metabolism of cobalamin associated B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8788673	Mmab	metabolism of cobalamin associated B	gene	DOID:1324	lung cancer		ISO	RGD:1347796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8788673	Mmab	metabolism of cobalamin associated B	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1347796	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Methylmalonic acidemia | ClinVar Annotator: match by term: Methylmalonic aciduria	PMID:12471062|PMID:15523652|PMID:15781192|PMID:16199547|PMID:16410054|PMID:17948227|PMID:17957493|PMID:23707710|PMID:24516753|PMID:25525159|PMID:25741868|PMID:26589311|PMID:28492532|PMID:30022420|PMID:34796408
8788673	Mmab	metabolism of cobalamin associated B	gene	DOID:3275	thymoma		ISO	RGD:1347796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8788673	Mmab	metabolism of cobalamin associated B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8788673	Mmab	metabolism of cobalamin associated B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788673	Mmab	metabolism of cobalamin associated B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8788673	Mmab	metabolism of cobalamin associated B	gene	DOID:630	genetic disease		ISO	RGD:1347796	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23707710|PMID:25741868|PMID:28468868|PMID:28492532
8788673	Mmab	metabolism of cobalamin associated B	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1347796	D	RGD:9068941	20200609	RGD		methylmalonic aciduria, cblB type, OMIM:251110	PMID:12471062|REF_RGD_ID:1600420
8788673	Mmab	metabolism of cobalamin associated B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8788689	Pygo1	pygopus family PHD finger 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346093	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8788689	Pygo1	pygopus family PHD finger 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788689	Pygo1	pygopus family PHD finger 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8788689	Pygo1	pygopus family PHD finger 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8788689	Pygo1	pygopus family PHD finger 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8788689	Pygo1	pygopus family PHD finger 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346093	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8788689	Pygo1	pygopus family PHD finger 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1346093	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8788695	Slc2a4	solute carrier family 2 member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8788695	Slc2a4	solute carrier family 2 member 4	gene	DOID:1059	intellectual disability		ISO	RGD:731478	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8788695	Slc2a4	solute carrier family 2 member 4	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731478	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24055495
8788695	Slc2a4	solute carrier family 2 member 4	gene	DOID:1115	sarcoma		ISO	RGD:731478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8788695	Slc2a4	solute carrier family 2 member 4	gene	DOID:3393	coronary artery disease		ISO	RGD:731478	D	RGD:9068941	20230601	RGD		mRNA:decreased expression:epicardial fat, subcutaneous adipose tissue (human)	PMID:21645024|REF_RGD_ID:329845584
8788695	Slc2a4	solute carrier family 2 member 4	gene	DOID:5041	esophageal cancer		ISO	RGD:731478	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8788695	Slc2a4	solute carrier family 2 member 4	gene	DOID:6000	congestive heart failure	severity	ISO	RGD:731478	D	RGD:9068941	20200609	RGD		protein:decreased expression:skeletal muscle	PMID:18778861|REF_RGD_ID:2313624
8788695	Slc2a4	solute carrier family 2 member 4	gene	DOID:6432	pulmonary hypertension		ISO	RGD:2711	D	RGD:9068941	20200609	RGD			PMID:19043358|REF_RGD_ID:2313622
8788695	Slc2a4	solute carrier family 2 member 4	gene	DOID:9003936	Cardiomegaly		ISO	RGD:731478	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22221582
8788695	Slc2a4	solute carrier family 2 member 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:731478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8788695	Slc2a4	solute carrier family 2 member 4	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2711	D	RGD:9068941	20200609	RGD			PMID:19252289|REF_RGD_ID:2313621
8788695	Slc2a4	solute carrier family 2 member 4	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:731478	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11947963|PMID:14563825|PMID:18266981|PMID:22138235
8788695	Slc2a4	solute carrier family 2 member 4	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:731479	D	RGD:9068941	20231026	RGD			PMID:31353547|REF_RGD_ID:401850595
8788695	Slc2a4	solute carrier family 2 member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8788695	Slc2a4	solute carrier family 2 member 4	gene	DOID:9007692	Insulin Resistance		ISO	RGD:731478	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11947963
8788695	Slc2a4	solute carrier family 2 member 4	gene	DOID:9007692	Insulin Resistance		ISO	RGD:731478	D	RGD:9068941	20200609	RGD		associated with Heart Failure, Congestive;protein:decreased expression:skeletal muscle	PMID:18778861|REF_RGD_ID:2313624
8788695	Slc2a4	solute carrier family 2 member 4	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2711	D	RGD:9068941	20200609	RGD			PMID:10336852|REF_RGD_ID:12879857
8788695	Slc2a4	solute carrier family 2 member 4	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731478	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:11947963|PMID:17107852|PMID:22384078|PMID:31626838
8788695	Slc2a4	solute carrier family 2 member 4	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731478	D	RGD:9068941	20260521	RGD		DNA:point mutation:exon:p.V383I (human)	PMID:1918382|REF_RGD_ID:1625188
8788695	Slc2a4	solute carrier family 2 member 4	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731479	D	RGD:9068941	20260521	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
8788695	Slc2a4	solute carrier family 2 member 4	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731479	D	RGD:9068941	20260521	RGD			PMID:18653321|REF_RGD_ID:2313625
8788712	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif 16	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8788712	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif 16	gene	DOID:0060058	lymphoma		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8788712	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif 16	gene	DOID:10534	stomach cancer		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8788712	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif 16	gene	DOID:10763	hypertension		ISO	RGD:1310046	D	RGD:9068941	20200609	RGD			PMID:23185005|REF_RGD_ID:9685162
8788712	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif 16	gene	DOID:1115	sarcoma		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8788712	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif 16	gene	DOID:11383	cryptorchidism		ISO	RGD:1310046	D	RGD:9068941	20201211	RGD			PMID:24983376|PMID:32037220|REF_RGD_ID:13434925|REF_RGD_ID:38548917
8788712	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif 16	gene	DOID:12336	male infertility		ISO	RGD:1310046	D	RGD:9068941	20201211	RGD			PMID:24983376|PMID:32037220|REF_RGD_ID:13434925|REF_RGD_ID:38548917
8788712	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif 16	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8788712	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif 16	gene	DOID:4362	cervical cancer		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8788712	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif 16	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8788712	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif 16	gene	DOID:5041	esophageal cancer		ISO	RGD:1320722	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8788712	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif 16	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8788712	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif 16	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8788712	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif 16	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8788712	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8788712	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8788740	Ankdd1b	ankyrin repeat and death domain containing 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2301773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788740	Ankdd1b	ankyrin repeat and death domain containing 1B	gene	DOID:1115	sarcoma		ISO	RGD:2301773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8788740	Ankdd1b	ankyrin repeat and death domain containing 1B	gene	DOID:4362	cervical cancer		ISO	RGD:2301773	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8788740	Ankdd1b	ankyrin repeat and death domain containing 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2301773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8788760	Ficd	FIC domain protein adenylyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788760	Ficd	FIC domain protein adenylyltransferase	gene	DOID:0070644	hereditary spastic paraplegia 92		ISO	RGD:1602333	D	RGD:7240710	20240821	OMIM			
8788760	Ficd	FIC domain protein adenylyltransferase	gene	DOID:0070644	hereditary spastic paraplegia 92		ISO	RGD:1602333	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 92, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 92, autosomal recessive	PMID:25741868
8788760	Ficd	FIC domain protein adenylyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1602333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8788760	Ficd	FIC domain protein adenylyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1602333	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
8788760	Ficd	FIC domain protein adenylyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1602333	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
8788760	Ficd	FIC domain protein adenylyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1602333	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8788760	Ficd	FIC domain protein adenylyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788760	Ficd	FIC domain protein adenylyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602333	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8788760	Ficd	FIC domain protein adenylyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602333	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8788772	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1642765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8788772	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1642765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788772	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1642765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8788772	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:1909	melanoma		ISO	RGD:1642765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8788772	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1642765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8788772	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:3275	thymoma		ISO	RGD:1642765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8788772	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1642765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8788772	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1642765	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8788772	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1642765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788772	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1642765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8788772	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:9005301	Hydatidiform Mole, Recurrent, 3		ISO	RGD:1642765	D	RGD:7240710	20190612	OMIM			
8788772	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:9005301	Hydatidiform Mole, Recurrent, 3		ISO	RGD:1642765	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: HYDATIDIFORM MOLE, RECURRENT, 3 | ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3 | ClinVar Annotator: match by term: MEI1-related condition	PMID:25741868|PMID:28492532|PMID:30388401
8788772	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1642765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8788772	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1642765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8788822	B4galnt2	beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8788822	B4galnt2	beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788822	B4galnt2	beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)	gene	DOID:1115	sarcoma		ISO	RGD:1354479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8788822	B4galnt2	beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)	gene	DOID:1324	lung cancer		ISO	RGD:1354479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8788822	B4galnt2	beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8788822	B4galnt2	beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8788822	B4galnt2	beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8788822	B4galnt2	beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)	gene	DOID:9001500	Sd(a) POLYAGGLUTINATION SYNDROME		ISO	RGD:1354479	D	RGD:7240710	20220209	OMIM			
8788822	B4galnt2	beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)	gene	DOID:9001500	Sd(a) POLYAGGLUTINATION SYNDROME		ISO	RGD:1354479	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BLOOD GROUP, SID SYSTEM	
8788837	Armcx1	armadillo repeat containing X-linked 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8788837	Armcx1	armadillo repeat containing X-linked 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788837	Armcx1	armadillo repeat containing X-linked 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1345943	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8788837	Armcx1	armadillo repeat containing X-linked 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8788837	Armcx1	armadillo repeat containing X-linked 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8788869	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8788869	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788869	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:0060058	lymphoma		ISO	RGD:1352228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8788869	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:10534	stomach cancer		ISO	RGD:1352228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8788869	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:1324	lung cancer		ISO	RGD:1352228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8788869	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:1909	melanoma		ISO	RGD:1352228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8788869	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:1352228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8788869	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8788869	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:5041	esophageal cancer		ISO	RGD:1352228	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8788869	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788869	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:9004912	Hyperoxaluria		ISO	RGD:1359694	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney (rat)	PMID:23091645|REF_RGD_ID:10040961
8788869	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:1359694	D	RGD:9068941	20200609	RGD			PMID:20501665|REF_RGD_ID:10003160
8788869	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:0050450	Gitelman syndrome		ISO	RGD:1557765	D	RGD:9068941	20220825	MouseDO		OMIM:263800	
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:16199547|PMID:28492532
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:10763	hypertension		ISO	RGD:1353270	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22949526
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:10763	hypertension		ISO	RGD:1353270	D	RGD:9068941	20200609	RGD			PMID:15110905|REF_RGD_ID:1580830
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:10763	hypertension	no_association	ISO	RGD:631401	D	RGD:9068941	20200609	RGD			PMID:12642508|REF_RGD_ID:629611
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:1909	melanoma		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:224	transient cerebral ischemia		ISO	RGD:631401	D	RGD:9068941	20200609	RGD			PMID:27798271|REF_RGD_ID:14398833
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:3275	thymoma		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:4479	pseudohypoaldosteronism		ISO	RGD:1353270	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:22949526
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:4479	pseudohypoaldosteronism		ISO	RGD:1353270	D	RGD:9068941	20260521	RGD			PMID:11498583|REF_RGD_ID:1580828
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:4479	pseudohypoaldosteronism		ISO	RGD:1557765	D	RGD:9068941	20260521	MouseDO			
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1353270	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:630	genetic disease		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:65	connective tissue disease		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:9006551	Pseudohypoaldosteronism, Type IIB		ISO	RGD:1353270	D	RGD:7240710	20180130	OMIM			
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:9006551	Pseudohypoaldosteronism, Type IIB		ISO	RGD:1353270	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PSEUDOHYPOALDOSTERONISM, TYPE IIB | ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2B | ClinVar Annotator: match by term: WNK4-related condition	PMID:11498583|PMID:18547946|PMID:21236712|PMID:24641320|PMID:25741868|PMID:27461219|PMID:28492532|PMID:30773290
8788880	Wnk4	WNK lysine deficient protein kinase 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8788903	Cep135	centrosomal protein 135	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788903	Cep135	centrosomal protein 135	gene	DOID:0070282	primary autosomal recessive microcephaly 8		ISO	RGD:1350849	D	RGD:7240710	20180130	OMIM			
8788903	Cep135	centrosomal protein 135	gene	DOID:0070282	primary autosomal recessive microcephaly 8		ISO	RGD:1350849	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CEP135-related condition | ClinVar Annotator: match by term: MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 8, primary, autosomal recessive	PMID:18414213|PMID:22521416|PMID:25741868|PMID:26657937|PMID:28492532|PMID:30214071|PMID:31696992|PMID:32643282|PMID:33889545
8788903	Cep135	centrosomal protein 135	gene	DOID:0110535	autosomal recessive nonsyndromic deafness 9		ISO	RGD:1350849	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder	
8788903	Cep135	centrosomal protein 135	gene	DOID:10534	stomach cancer		ISO	RGD:1350849	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8788903	Cep135	centrosomal protein 135	gene	DOID:1324	lung cancer		ISO	RGD:1350849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8788903	Cep135	centrosomal protein 135	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8788903	Cep135	centrosomal protein 135	gene	DOID:3275	thymoma		ISO	RGD:1350849	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8788903	Cep135	centrosomal protein 135	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8788903	Cep135	centrosomal protein 135	gene	DOID:4362	cervical cancer		ISO	RGD:1350849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8788903	Cep135	centrosomal protein 135	gene	DOID:5041	esophageal cancer		ISO	RGD:1350849	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8788903	Cep135	centrosomal protein 135	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8788903	Cep135	centrosomal protein 135	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788903	Cep135	centrosomal protein 135	gene	DOID:630	genetic disease		ISO	RGD:1350849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22521416|PMID:25741868|PMID:26657937|PMID:28492532|PMID:32677750
8788903	Cep135	centrosomal protein 135	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8788903	Cep135	centrosomal protein 135	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:16199547|PMID:22521416|PMID:26657937|PMID:28492532
8788903	Cep135	centrosomal protein 135	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8788936	CUNH1orf105	chromosome unknown C1orf105 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8788936	CUNH1orf105	chromosome unknown C1orf105 homolog	gene	DOID:6039	uveal melanoma		ISO	RGD:1603371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8788936	CUNH1orf105	chromosome unknown C1orf105 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603371	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8788936	CUNH1orf105	chromosome unknown C1orf105 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8788947	Tmem86b	transmembrane protein 86B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8788954	Polr3gl	RNA polymerase III subunit GL	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8788954	Polr3gl	RNA polymerase III subunit GL	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788954	Polr3gl	RNA polymerase III subunit GL	gene	DOID:1115	sarcoma		ISO	RGD:1353647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8788954	Polr3gl	RNA polymerase III subunit GL	gene	DOID:1324	lung cancer		ISO	RGD:1353647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8788954	Polr3gl	RNA polymerase III subunit GL	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8788954	Polr3gl	RNA polymerase III subunit GL	gene	DOID:5041	esophageal cancer		ISO	RGD:1353647	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8788954	Polr3gl	RNA polymerase III subunit GL	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788954	Polr3gl	RNA polymerase III subunit GL	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8788954	Polr3gl	RNA polymerase III subunit GL	gene	DOID:9000738	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY		ISO	RGD:1353647	D	RGD:7240710	20210421	OMIM			
8788954	Polr3gl	RNA polymerase III subunit GL	gene	DOID:9000738	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY		ISO	RGD:1353647	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: POLR3GL-related condition | ClinVar Annotator: match by term: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY	PMID:25741868
8788954	Polr3gl	RNA polymerase III subunit GL	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8788970	Mtx1	metaxin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8788970	Mtx1	metaxin 1	gene	DOID:1115	sarcoma		ISO	RGD:1351611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8788970	Mtx1	metaxin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1351611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8788970	Mtx1	metaxin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788970	Mtx1	metaxin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8788970	Mtx1	metaxin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8788985	Fdft1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8788985	Fdft1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:731891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8788985	Fdft1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8788985	Fdft1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:61834	D	RGD:9068941	20250619	RGD		mRNA:increased expression:nucleus accumbens, mesencephalon (rat)	PMID:30618609|REF_RGD_ID:616363157
8788985	Fdft1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8788985	Fdft1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:731891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8788985	Fdft1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:731891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8788985	Fdft1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8788985	Fdft1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:731891	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8788985	Fdft1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:5062	phencyclidine abuse		ISO	RGD:731891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
8788985	Fdft1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8788985	Fdft1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21147110
8788985	Fdft1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:83	cataract		ISO	RGD:61834	D	RGD:9068941	20200609	RGD			PMID:16440058|REF_RGD_ID:1626611
8788985	Fdft1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:83	cataract		ISO	RGD:62125	D	RGD:9068941	20200609	RGD			PMID:16440058|REF_RGD_ID:1626611
8788985	Fdft1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:731891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
8788985	Fdft1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:9007732	Squalene Synthase Deficiency		ISO	RGD:731891	D	RGD:7240710	20190626	OMIM			
8788985	Fdft1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:9007732	Squalene Synthase Deficiency		ISO	RGD:731891	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FDFT1-related condition | ClinVar Annotator: match by term: SQUALENE SYNTHASE DEFICIENCY | ClinVar Annotator: match by term: Squalene synthase deficiency | ClinVar Annotator: match by term: squalene synthase deficiency	PMID:25741868|PMID:28492532|PMID:29909962
8788985	Fdft1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8788985	Fdft1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8788985	Fdft1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:9505	cannabis abuse		ISO	RGD:731891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
8789005	Myo6	myosin VI	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8789005	Myo6	myosin VI	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1352294	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness	PMID:12687499|PMID:18348273|PMID:23767834|PMID:24033266|PMID:25080041|PMID:25741868|PMID:25999546|PMID:26969326|PMID:28492532|PMID:30192042|PMID:30582396|PMID:33297549|PMID:39336818|PMID:40592345
8789005	Myo6	myosin VI	gene	DOID:0050564	autosomal dominant nonsyndromic deafness		ISO	RGD:1352294	D	RGD:8554872	20240820	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss	PMID:25741868
8789005	Myo6	myosin VI	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:11589352|RGD:11644648|RGD:11646372|RGD:11647811|RGD:11648978|RGD:11650803|RGD:11653123|RGD:11656120	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive	
8789005	Myo6	myosin VI	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789005	Myo6	myosin VI	gene	DOID:0060058	lymphoma		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8789005	Myo6	myosin VI	gene	DOID:0060733	junctional epidermolysis bullosa with pyloric atresia		ISO	RGD:1352294	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA	PMID:12687499|PMID:18348273|PMID:23767834|PMID:25080041|PMID:25741868|PMID:25999546|PMID:26969326|PMID:28492532|PMID:30582396|PMID:33279834|PMID:33297549
8789005	Myo6	myosin VI	gene	DOID:0060733	junctional epidermolysis bullosa with pyloric atresia		ISO	RGD:1352294	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA	PMID:12687499|PMID:18348273|PMID:23767834|PMID:25080041|PMID:25741868|PMID:25999546|PMID:26969326|PMID:28492532|PMID:30192042|PMID:30582396|PMID:33297549|PMID:39336818|PMID:40592345
8789005	Myo6	myosin VI	gene	DOID:0080600	COVID-19		ISO	RGD:1352294	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8789005	Myo6	myosin VI	gene	DOID:0110495	autosomal recessive nonsyndromic deafness 37		ISO	RGD:1352294	D	RGD:7240710	20180130	OMIM			
8789005	Myo6	myosin VI	gene	DOID:0110495	autosomal recessive nonsyndromic deafness 37		ISO	RGD:1352294	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 37 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 37 | ClinVar Annotator: match by term: MYO6-related condition	PMID:11167014|PMID:12687499|PMID:16199547|PMID:17576681|PMID:18212818|PMID:18348273|PMID:21078986|PMID:23767834|PMID:23990876|PMID:24033266|PMID:25080041|PMID:25741868|PMID:25999546|PMID:26445815|PMID:26467025|PMID:26944241|PMID:26969326|PMID:26971995|PMID:28492532|PMID:29607572|PMID:30192042|PMID:30311386|PMID:30582396|PMID:32143290|PMID:32747562|PMID:33105617|PMID:33297549|PMID:33724713|PMID:36788145|PMID:39336818|PMID:40592345|PMID:9536098
8789005	Myo6	myosin VI	gene	DOID:0110552	autosomal dominant nonsyndromic deafness 22		ISO	RGD:1352294	D	RGD:7240710	20180130	OMIM			
8789005	Myo6	myosin VI	gene	DOID:0110552	autosomal dominant nonsyndromic deafness 22		ISO	RGD:1352294	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 22 | ClinVar Annotator: match by term: DFNA 22	PMID:11167014|PMID:12687499|PMID:18348273|PMID:21078986|PMID:23767834|PMID:24033266|PMID:24123366|PMID:25080041|PMID:25741868|PMID:25999546|PMID:26445815|PMID:26467025|PMID:26969326|PMID:28492532|PMID:28501645|PMID:30192042|PMID:30311386|PMID:30582396|PMID:32143290|PMID:33297549|PMID:39336818|PMID:40592345
8789005	Myo6	myosin VI	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Progressive sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532
8789005	Myo6	myosin VI	gene	DOID:10283	prostate cancer		ISO	RGD:1352294	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland epithelium, perinuclear region of cytoplasm	PMID:18543251|REF_RGD_ID:2314956
8789005	Myo6	myosin VI	gene	DOID:10534	stomach cancer		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:12687499|PMID:25741868|PMID:28492532
8789005	Myo6	myosin VI	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pigmentary retinopathy	
8789005	Myo6	myosin VI	gene	DOID:10763	hypertension		ISO	RGD:1560646	D	RGD:9068941	20200609	RGD		protein:altered localization:renal proximal tubule, microvillus	PMID:16107581|REF_RGD_ID:2314963
8789005	Myo6	myosin VI	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
8789005	Myo6	myosin VI	gene	DOID:1324	lung cancer		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8789005	Myo6	myosin VI	gene	DOID:1826	epilepsy		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8789005	Myo6	myosin VI	gene	DOID:1909	melanoma		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8789005	Myo6	myosin VI	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1352294	D	RGD:9068941	20200609	RGD			PMID:15146066|REF_RGD_ID:2314958
8789005	Myo6	myosin VI	gene	DOID:303	substance-related disorder		ISO	RGD:1352294	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8789005	Myo6	myosin VI	gene	DOID:3275	thymoma		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8789005	Myo6	myosin VI	gene	DOID:3459	breast carcinoma		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	
8789005	Myo6	myosin VI	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8789005	Myo6	myosin VI	gene	DOID:4362	cervical cancer		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8789005	Myo6	myosin VI	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8789005	Myo6	myosin VI	gene	DOID:4990	essential tremor		ISO	RGD:1352294	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Essential tremor	PMID:12687499|PMID:18348273|PMID:23767834|PMID:25080041|PMID:25741868|PMID:25999546|PMID:26969326|PMID:28492532|PMID:30192042|PMID:30582396|PMID:33297549|PMID:39336818|PMID:40592345
8789005	Myo6	myosin VI	gene	DOID:5041	esophageal cancer		ISO	RGD:1352294	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8789005	Myo6	myosin VI	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8789005	Myo6	myosin VI	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8789005	Myo6	myosin VI	gene	DOID:630	genetic disease		ISO	RGD:1352294	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11167014|PMID:18212818|PMID:23967202|PMID:23990876|PMID:24033266|PMID:25741868|PMID:25999546|PMID:26467025|PMID:28492532|PMID:29224747|PMID:29607572|PMID:30582396|PMID:33105617
8789005	Myo6	myosin VI	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8789005	Myo6	myosin VI	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:28492532
8789005	Myo6	myosin VI	gene	DOID:9004538	Hearing Loss		ISO	RGD:1352294	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:9536098
8789005	Myo6	myosin VI	gene	DOID:9004538	Hearing Loss		ISO	RGD:1352294	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:12687499|PMID:18348273|PMID:21078986|PMID:23208854|PMID:23767834|PMID:25080041|PMID:25741868|PMID:25999546|PMID:26969326|PMID:28000701|PMID:28492532|PMID:30192042|PMID:30311386|PMID:30582396|PMID:32143290|PMID:33297549|PMID:39336818|PMID:40592345
8789005	Myo6	myosin VI	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8789005	Myo6	myosin VI	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789005	Myo6	myosin VI	gene	DOID:9008768	Sensorineural Deafness with Hypertrophic Cardiomyopathy		ISO	RGD:1352294	D	RGD:8554872	20240924	ClinVar		ClinVar Annotator: match by term: Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome	PMID:15060111|PMID:18212818|PMID:18348273|PMID:24033266|PMID:28492532
8789005	Myo6	myosin VI	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8789005	Myo6	myosin VI	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8789005	Myo6	myosin VI	gene	DOID:9258	Waardenburg syndrome		ISO	RGD:1352294	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Waardenburg syndrome	PMID:25741868
8789005	Myo6	myosin VI	gene	DOID:9849	Meniere's disease		ISO	RGD:1352294	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Meniere disease | ClinVar Annotator: match by term: Ménière's disease	PMID:24033266|PMID:28492532
8789045	Gpr132	G protein-coupled receptor 132	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789045	Gpr132	G protein-coupled receptor 132	gene	DOID:1115	sarcoma		ISO	RGD:1321937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8789045	Gpr132	G protein-coupled receptor 132	gene	DOID:417	autoimmune disease		ISO	RGD:1321938	D	RGD:9068941	20220825	MouseDO		OMIM:109100 | OMIM:607836 | OMIM:613551	
8789045	Gpr132	G protein-coupled receptor 132	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789045	Gpr132	G protein-coupled receptor 132	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8789045	Gpr132	G protein-coupled receptor 132	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8789063	Daxx	death domain associated protein	gene	DOID:0050866	oral squamous cell carcinoma	ameliorates	ISO	RGD:1345950	D	RGD:9068941	20220428	RGD		human cell line in a mouse model	PMID:26205068|REF_RGD_ID:152025200
8789063	Daxx	death domain associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789063	Daxx	death domain associated protein	gene	DOID:0080521	lung non-squamous non-small cell carcinoma	exacerbates	ISO	RGD:1345950	D	RGD:9068941	20220428	RGD		protein:decreased expression:lung (human)	PMID:28004751|REF_RGD_ID:152025202
8789063	Daxx	death domain associated protein	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1345950	D	RGD:9068941	20200609	RGD			PMID:23642739|REF_RGD_ID:9587815
8789063	Daxx	death domain associated protein	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1345950	D	RGD:9068941	20220428	RGD		protein:decreased expression:stomach (human)	PMID:32203224|REF_RGD_ID:152025201
8789063	Daxx	death domain associated protein	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1345950	D	RGD:9068941	20220428	RGD		protein:decreased expression:cytoplasm (human)	PMID:28812328|REF_RGD_ID:152025197
8789063	Daxx	death domain associated protein	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1345950	D	RGD:9068941	20220428	RGD		protein:altered expression:nucleus, cytoplasm (human)	PMID:32641734|REF_RGD_ID:152025196
8789063	Daxx	death domain associated protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8789063	Daxx	death domain associated protein	gene	DOID:11240	appendiceal neoplasm		ISO	RGD:1345950	D	RGD:9068941	20220429	RGD		DNA:CNV: (human)	PMID:30962504|REF_RGD_ID:152025217
8789063	Daxx	death domain associated protein	gene	DOID:1240	leukemia		ISO	RGD:1345950	D	RGD:9068941	20200609	RGD		protein:increased expression:bone marrow:	PMID:17306074|REF_RGD_ID:9587840
8789063	Daxx	death domain associated protein	gene	DOID:169	neuroendocrine tumor		ISO	RGD:1345950	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21252315
8789063	Daxx	death domain associated protein	gene	DOID:169	neuroendocrine tumor	severity	ISO	RGD:1345950	D	RGD:9068941	20200609	RGD			PMID:23954140|REF_RGD_ID:9587816
8789063	Daxx	death domain associated protein	gene	DOID:1793	pancreatic cancer		ISO	RGD:1345950	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21252315
8789063	Daxx	death domain associated protein	gene	DOID:1798	pancreatic endocrine carcinoma		ISO	RGD:1345950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas	
8789063	Daxx	death domain associated protein	gene	DOID:1798	pancreatic endocrine carcinoma	disease_progression	ISO	RGD:1345950	D	RGD:9068941	20220428	RGD		DNA:frameshift, frameshift mutations, nonsense mutation, missense mutations:CDS:multiple (human)	PMID:29212165|REF_RGD_ID:152025205
8789063	Daxx	death domain associated protein	gene	DOID:1799	islet cell tumor	disease_progression	ISO	RGD:1345950	D	RGD:9068941	20200609	RGD			PMID:21252315|REF_RGD_ID:9587819
8789063	Daxx	death domain associated protein	gene	DOID:1909	melanoma		ISO	RGD:1345950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8789063	Daxx	death domain associated protein	gene	DOID:2152	ovary epithelial cancer		ISO	RGD:1345950	D	RGD:9068941	20200609	RGD			PMID:23539629|REF_RGD_ID:9587820
8789063	Daxx	death domain associated protein	gene	DOID:224	transient cerebral ischemia		ISO	RGD:621227	D	RGD:9068941	20220527	RGD		mRNA,protein:increased expression:cerebral cortex:	PMID:18096138|REF_RGD_ID:4142863
8789063	Daxx	death domain associated protein	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:621227	D	RGD:9068941	20200609	RGD			PMID:17967739|REF_RGD_ID:9587802
8789063	Daxx	death domain associated protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345950	D	RGD:9068941	20200609	RGD		protein:decreased expression:colon:	PMID:16569639|REF_RGD_ID:9587838
8789063	Daxx	death domain associated protein	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1345950	D	RGD:9068941	20200609	RGD			PMID:23819605|REF_RGD_ID:9587843
8789063	Daxx	death domain associated protein	gene	DOID:3070	high grade glioma		ISO	RGD:1345950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8789063	Daxx	death domain associated protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8789063	Daxx	death domain associated protein	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:1345950	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24747642
8789063	Daxx	death domain associated protein	gene	DOID:4468	clear cell adenocarcinoma		ISO	RGD:1345950	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary:	PMID:23539629|REF_RGD_ID:9587820
8789063	Daxx	death domain associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789063	Daxx	death domain associated protein	gene	DOID:9000558	Mucinous Cystadenoma		ISO	RGD:1345950	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary:	PMID:23539629|REF_RGD_ID:9587820
8789063	Daxx	death domain associated protein	gene	DOID:9000659	Heavy Metal Toxicity		ISO	RGD:621227	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver:	PMID:17692352|REF_RGD_ID:9587799
8789063	Daxx	death domain associated protein	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1345950	D	RGD:9068941	20200609	RGD			PMID:23539629|REF_RGD_ID:9587820
8789063	Daxx	death domain associated protein	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:621227	D	RGD:9068941	20200609	RGD			PMID:21843499|REF_RGD_ID:9587791
8789063	Daxx	death domain associated protein	gene	DOID:9004265	Endometrioid Carcinomas		ISO	RGD:1345950	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary:	PMID:23539629|REF_RGD_ID:9587820
8789063	Daxx	death domain associated protein	gene	DOID:9005936	Gastro-Enteropancreatic Neuroendocrine Tumor	severity	ISO	RGD:1345950	D	RGD:9068941	20210618	RGD			PMID:26026117|REF_RGD_ID:127285385
8789063	Daxx	death domain associated protein	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1345950	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney:	PMID:18480747|REF_RGD_ID:9587836
8789063	Daxx	death domain associated protein	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:732822	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney:	PMID:18480747|REF_RGD_ID:9587836
8789063	Daxx	death domain associated protein	gene	DOID:9006618	Liver Metastasis		ISO	RGD:1345950	D	RGD:9068941	20220428	RGD		associated with pancreatic endocrine carcinoma;DNA:mutations:CDS:multiple (human)	PMID:30339629|REF_RGD_ID:152025203
8789063	Daxx	death domain associated protein	gene	DOID:9006618	Liver Metastasis	exacerbates	ISO	RGD:1345950	D	RGD:9068941	20220428	RGD		associated with colon cancer; mRNA:decreased expression:liver (human)	PMID:31942198|REF_RGD_ID:152025194
8789063	Daxx	death domain associated protein	gene	DOID:9006618	Liver Metastasis	exacerbates	ISO	RGD:1345950	D	RGD:9068941	20220428	RGD		associated with neuroendocrine tumor;DNA:mutations:CDS:multiple (human)	PMID:30342802|REF_RGD_ID:152025199
8789063	Daxx	death domain associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789063	Daxx	death domain associated protein	gene	DOID:9008844	Serous Cystadenoma		ISO	RGD:1345950	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary:	PMID:23539629|REF_RGD_ID:9587820
8789063	Daxx	death domain associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8789084	Rrp1	ribosomal RNA processing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789084	Rrp1	ribosomal RNA processing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8789084	Rrp1	ribosomal RNA processing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8789084	Rrp1	ribosomal RNA processing 1	gene	DOID:1324	lung cancer		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8789084	Rrp1	ribosomal RNA processing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8789084	Rrp1	ribosomal RNA processing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8789084	Rrp1	ribosomal RNA processing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605116	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8789084	Rrp1	ribosomal RNA processing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789084	Rrp1	ribosomal RNA processing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8789084	Rrp1	ribosomal RNA processing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8789084	Rrp1	ribosomal RNA processing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789084	Rrp1	ribosomal RNA processing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8789084	Rrp1	ribosomal RNA processing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8789110	Capza1	capping actin protein of muscle Z-line subunit alpha 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8789110	Capza1	capping actin protein of muscle Z-line subunit alpha 1	gene	DOID:0060058	lymphoma		ISO	RGD:1314786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8789110	Capza1	capping actin protein of muscle Z-line subunit alpha 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8789110	Capza1	capping actin protein of muscle Z-line subunit alpha 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8789110	Capza1	capping actin protein of muscle Z-line subunit alpha 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1314786	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
8789110	Capza1	capping actin protein of muscle Z-line subunit alpha 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8789110	Capza1	capping actin protein of muscle Z-line subunit alpha 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8789110	Capza1	capping actin protein of muscle Z-line subunit alpha 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8789110	Capza1	capping actin protein of muscle Z-line subunit alpha 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314786	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8789110	Capza1	capping actin protein of muscle Z-line subunit alpha 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8789110	Capza1	capping actin protein of muscle Z-line subunit alpha 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789110	Capza1	capping actin protein of muscle Z-line subunit alpha 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1314786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8789110	Capza1	capping actin protein of muscle Z-line subunit alpha 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8789110	Capza1	capping actin protein of muscle Z-line subunit alpha 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8789110	Capza1	capping actin protein of muscle Z-line subunit alpha 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8789110	Capza1	capping actin protein of muscle Z-line subunit alpha 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8789110	Capza1	capping actin protein of muscle Z-line subunit alpha 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1314786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8789124	Hdac3	histone deacetylase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789124	Hdac3	histone deacetylase 3	gene	DOID:0070227	intrahepatic cholestasis of pregnancy	severity	ISO	RGD:731326	D	RGD:9068941	20200609	RGD			PMID:28697498|REF_RGD_ID:14696655
8789124	Hdac3	histone deacetylase 3	gene	DOID:10286	prostate carcinoma		ISO	RGD:731326	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:18212746|REF_RGD_ID:2306214
8789124	Hdac3	histone deacetylase 3	gene	DOID:1115	sarcoma		ISO	RGD:731326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8789124	Hdac3	histone deacetylase 3	gene	DOID:114	heart disease		ISO	RGD:731326	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18625706
8789124	Hdac3	histone deacetylase 3	gene	DOID:12858	Huntington's disease		ISO	RGD:731327	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebral cortex	PMID:22965876|REF_RGD_ID:10402189
8789124	Hdac3	histone deacetylase 3	gene	DOID:12858	Huntington's disease		ISO	RGD:731327	D	RGD:9068941	20200609	RGD		protein:increased expression:striatum:	PMID:22918830|REF_RGD_ID:9590098
8789124	Hdac3	histone deacetylase 3	gene	DOID:1324	lung cancer		ISO	RGD:731326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8789124	Hdac3	histone deacetylase 3	gene	DOID:1875	impotence		ISO	RGD:619977	D	RGD:9068941	20200609	RGD		protein:increased expression:penis:	PMID:24636283|REF_RGD_ID:9590194
8789124	Hdac3	histone deacetylase 3	gene	DOID:1909	melanoma		ISO	RGD:731327	D	RGD:9068941	20200609	RGD		associated with Anaphylaxis;	PMID:24619412|REF_RGD_ID:9590165
8789124	Hdac3	histone deacetylase 3	gene	DOID:2394	ovarian cancer		ISO	RGD:731326	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:17387270|REF_RGD_ID:2306215
8789124	Hdac3	histone deacetylase 3	gene	DOID:2871	endometrial carcinoma	disease_progression	ISO	RGD:731326	D	RGD:9068941	20200609	RGD			PMID:18714364|REF_RGD_ID:2306205
8789124	Hdac3	histone deacetylase 3	gene	DOID:289	endometriosis		ISO	RGD:731327	D	RGD:9068941	20220825	MouseDO		OMIM:131200	
8789124	Hdac3	histone deacetylase 3	gene	DOID:299	adenocarcinoma		ISO	RGD:731326	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:34973135
8789124	Hdac3	histone deacetylase 3	gene	DOID:3021	acute kidney failure		ISO	RGD:619977	D	RGD:9068941	20200609	RGD			PMID:21416250|REF_RGD_ID:10047111
8789124	Hdac3	histone deacetylase 3	gene	DOID:3070	high grade glioma		ISO	RGD:731326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8789124	Hdac3	histone deacetylase 3	gene	DOID:3070	high grade glioma	disease_progression	ISO	RGD:731326	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:brain:	PMID:23685192|REF_RGD_ID:9590201
8789124	Hdac3	histone deacetylase 3	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:731326	D	RGD:9068941	20200609	RGD			PMID:24482232|REF_RGD_ID:9588265
8789124	Hdac3	histone deacetylase 3	gene	DOID:4001	ovarian carcinoma	disease_progression	ISO	RGD:731326	D	RGD:9068941	20200609	RGD			PMID:18714364|REF_RGD_ID:2306205
8789124	Hdac3	histone deacetylase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:731326	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8789124	Hdac3	histone deacetylase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789124	Hdac3	histone deacetylase 3	gene	DOID:6432	pulmonary hypertension		ISO	RGD:731326	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung:	PMID:22711276|REF_RGD_ID:9590133
8789124	Hdac3	histone deacetylase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8789124	Hdac3	histone deacetylase 3	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:731326	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:34973135
8789124	Hdac3	histone deacetylase 3	gene	DOID:9000784	Fibrosis		ISO	RGD:619977	D	RGD:9068941	20200609	RGD		protein:increased expression:penis:	PMID:24636283|REF_RGD_ID:9590194
8789124	Hdac3	histone deacetylase 3	gene	DOID:9000918	Disease Progression		ISO	RGD:731326	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:34973135
8789124	Hdac3	histone deacetylase 3	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:731326	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:34973135
8789124	Hdac3	histone deacetylase 3	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:731327	D	RGD:9068941	20200609	RGD		associated with Anaphylaxis;	PMID:24619412|REF_RGD_ID:9590165
8789124	Hdac3	histone deacetylase 3	gene	DOID:9001981	Weight Loss		ISO	RGD:731326	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:34973135
8789124	Hdac3	histone deacetylase 3	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:619977	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain:	PMID:23716065|REF_RGD_ID:9588620
8789124	Hdac3	histone deacetylase 3	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:731326	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:34973135
8789124	Hdac3	histone deacetylase 3	gene	DOID:9005834	Ependymomas		ISO	RGD:731326	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Ependymoma	
8789124	Hdac3	histone deacetylase 3	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:619977	D	RGD:9068941	20200609	RGD			PMID:21763752|REF_RGD_ID:9590183
8789124	Hdac3	histone deacetylase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789124	Hdac3	histone deacetylase 3	gene	DOID:9007278	Anaphylaxis		ISO	RGD:731327	D	RGD:9068941	20200609	RGD			PMID:24619412|REF_RGD_ID:9590165
8789124	Hdac3	histone deacetylase 3	gene	DOID:9007838	Myocardial Reperfusion Injury	ameliorates	ISO	RGD:731327	D	RGD:9068941	20230209	RGD			PMID:33982231|REF_RGD_ID:155883171
8789124	Hdac3	histone deacetylase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8789124	Hdac3	histone deacetylase 3	gene	DOID:9256	colorectal cancer		ISO	RGD:731326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8789124	Hdac3	histone deacetylase 3	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:731326	D	RGD:9068941	20200609	RGD		protein:decreased expression:pancreatic beta cell:	PMID:22772764|REF_RGD_ID:9590127
8789158	Nudt17	nudix hydrolase 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8789158	Nudt17	nudix hydrolase 17	gene	DOID:1324	lung cancer		ISO	RGD:1350013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8789158	Nudt17	nudix hydrolase 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789158	Nudt17	nudix hydrolase 17	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1350013	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
8789158	Nudt17	nudix hydrolase 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8789175	Batf	basic leucine zipper ATF-like transcription factor	gene	DOID:1324	lung cancer		ISO	RGD:1312643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8789175	Batf	basic leucine zipper ATF-like transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789182	Unkl	unk like zinc finger	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789182	Unkl	unk like zinc finger	gene	DOID:1115	sarcoma		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8789182	Unkl	unk like zinc finger	gene	DOID:1909	melanoma		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8789182	Unkl	unk like zinc finger	gene	DOID:3275	thymoma		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8789182	Unkl	unk like zinc finger	gene	DOID:5041	esophageal cancer		ISO	RGD:1604323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8789182	Unkl	unk like zinc finger	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789182	Unkl	unk like zinc finger	gene	DOID:9003566	Mesothelioma		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8789182	Unkl	unk like zinc finger	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789182	Unkl	unk like zinc finger	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8789209	Ube4a	ubiquitination factor E4A	gene	DOID:10534	stomach cancer		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8789209	Ube4a	ubiquitination factor E4A	gene	DOID:1059	intellectual disability		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8789209	Ube4a	ubiquitination factor E4A	gene	DOID:1324	lung cancer		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8789209	Ube4a	ubiquitination factor E4A	gene	DOID:1909	melanoma		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8789209	Ube4a	ubiquitination factor E4A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8789209	Ube4a	ubiquitination factor E4A	gene	DOID:4362	cervical cancer		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8789209	Ube4a	ubiquitination factor E4A	gene	DOID:5041	esophageal cancer		ISO	RGD:1351066	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8789209	Ube4a	ubiquitination factor E4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789209	Ube4a	ubiquitination factor E4A	gene	DOID:630	genetic disease		ISO	RGD:1351066	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8789209	Ube4a	ubiquitination factor E4A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8789209	Ube4a	ubiquitination factor E4A	gene	DOID:9004263	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY		ISO	RGD:1351066	D	RGD:7240710	20220216	OMIM			
8789209	Ube4a	ubiquitination factor E4A	gene	DOID:9004263	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY		ISO	RGD:1351066	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay | ClinVar Annotator: match by term: UBE4A-related condition	PMID:25741868|PMID:33420346
8789209	Ube4a	ubiquitination factor E4A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1351066	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8789209	Ube4a	ubiquitination factor E4A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8789209	Ube4a	ubiquitination factor E4A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8789209	Ube4a	ubiquitination factor E4A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8789255	Irf9	interferon regulatory factor 9	gene	DOID:0111978	immunodeficiency 65		ISO	RGD:1318730	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS | ClinVar Annotator: match by term: IRF9-related condition | ClinVar Annotator: match by term: Immunodeficiency 65, susceptibility to viral infections	PMID:25741868|PMID:28492532
8789255	Irf9	interferon regulatory factor 9	gene	DOID:0111978	immunodeficiency 65	susceptibility	ISO	RGD:1318730	D	RGD:7240710	20191127	OMIM			
8789255	Irf9	interferon regulatory factor 9	gene	DOID:10534	stomach cancer		ISO	RGD:1318730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8789255	Irf9	interferon regulatory factor 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8789255	Irf9	interferon regulatory factor 9	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1308766	D	RGD:9068941	20210402	RGD		associated with acute pancreatitis;protein:increased expression:kidney	PMID:32462510|REF_RGD_ID:125093744
8789255	Irf9	interferon regulatory factor 9	gene	DOID:11984	hypertrophic cardiomyopathy	ameliorates	ISO	RGD:1318731	D	RGD:9068941	20210402	RGD			PMID:24144649|REF_RGD_ID:125093743
8789255	Irf9	interferon regulatory factor 9	gene	DOID:11984	hypertrophic cardiomyopathy	exacerbates	ISO	RGD:1318731	D	RGD:9068941	20210402	RGD			PMID:24144649|REF_RGD_ID:125093743
8789255	Irf9	interferon regulatory factor 9	gene	DOID:12155	lymphocytic choriomeningitis		ISO	RGD:732185	D	RGD:9068941	20210326	RGD			PMID:24760883|REF_RGD_ID:124715479
8789255	Irf9	interferon regulatory factor 9	gene	DOID:12155	lymphocytic choriomeningitis	ameliorates	ISO	RGD:1318731	D	RGD:9068941	20210326	RGD			PMID:22496215|REF_RGD_ID:124715469
8789255	Irf9	interferon regulatory factor 9	gene	DOID:12155	lymphocytic choriomeningitis	disease_progression	ISO	RGD:1318731	D	RGD:9068941	20210326	RGD		DNA:mutation: :	PMID:28878077|REF_RGD_ID:124715467
8789255	Irf9	interferon regulatory factor 9	gene	DOID:1324	lung cancer		ISO	RGD:1318730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8789255	Irf9	interferon regulatory factor 9	gene	DOID:1883	hepatitis C		ISO	RGD:1318730	D	RGD:9068941	20210326	RGD		protein:increased expression:liver	PMID:26216956|REF_RGD_ID:11074283
8789255	Irf9	interferon regulatory factor 9	gene	DOID:2913	acute pancreatitis		ISO	RGD:1308766	D	RGD:9068941	20210402	RGD		mRNA,protein:increased expression:kidney	PMID:32462510|REF_RGD_ID:125093744
8789255	Irf9	interferon regulatory factor 9	gene	DOID:4362	cervical cancer		ISO	RGD:1318730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8789255	Irf9	interferon regulatory factor 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1318730	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8789255	Irf9	interferon regulatory factor 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789255	Irf9	interferon regulatory factor 9	gene	DOID:6039	uveal melanoma		ISO	RGD:1318730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8789255	Irf9	interferon regulatory factor 9	gene	DOID:8704	genital herpes	exacerbates	ISO	RGD:1318731	D	RGD:9068941	20210402	RGD			PMID:28264883|REF_RGD_ID:125093738
8789255	Irf9	interferon regulatory factor 9	gene	DOID:9000099	Experimental Colitis	ameliorates	ISO	RGD:1318731	D	RGD:9068941	20210326	RGD			PMID:25918247|REF_RGD_ID:124715468
8789255	Irf9	interferon regulatory factor 9	gene	DOID:9000438	Subarachnoid Hemorrhage	ameliorates	ISO	RGD:1308766	D	RGD:9068941	20210402	RGD			PMID:29480757|REF_RGD_ID:125093745
8789255	Irf9	interferon regulatory factor 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789255	Irf9	interferon regulatory factor 9	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1318730	D	RGD:9068941	20210402	RGD		protein:increased expression:left ventricular  free wall	PMID:25150882|REF_RGD_ID:125093742
8789255	Irf9	interferon regulatory factor 9	gene	DOID:9007838	Myocardial Reperfusion Injury	ameliorates	ISO	RGD:1318731	D	RGD:9068941	20210402	RGD			PMID:25150882|REF_RGD_ID:125093742
8789255	Irf9	interferon regulatory factor 9	gene	DOID:9007838	Myocardial Reperfusion Injury	exacerbates	ISO	RGD:1318731	D	RGD:9068941	20210402	RGD			PMID:25150882|REF_RGD_ID:125093742
8789255	Irf9	interferon regulatory factor 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8789275	TNF	tumor necrosis factor	gene	DOID:14453	farmer's lung		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter	PMID:11179110|REF_RGD_ID:4143374
8789275	Tnf	tumor necrosis factor	gene	DOID:0040084	Streptococcus pneumonia		ISO	RGD:11429	D	RGD:9068941	20201117	RGD		protein:increased expression:lung,natural killer cell (mouse)	PMID:21887255|REF_RGD_ID:40818252
8789275	Tnf	tumor necrosis factor	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16513158
8789275	Tnf	tumor necrosis factor	gene	DOID:0050152	aspiration pneumonia		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:Bronchoalveolar Lavage Fluid	PMID:18042282|REF_RGD_ID:4142854
8789275	Tnf	tumor necrosis factor	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:11429	D	RGD:9068941	20240425	MouseDO		OMIM:178500	
8789275	Tnf	tumor necrosis factor	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1344192	D	RGD:9068941	20210212	CTD		CTD Direct Evidence: marker/mechanism	PMID:8473757
8789275	Tnf	tumor necrosis factor	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:blister:	PMID:9852250|REF_RGD_ID:7401184
8789275	Tnf	tumor necrosis factor	gene	DOID:0050452	mevalonic aciduria		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:7780142|REF_RGD_ID:9585642
8789275	Tnf	tumor necrosis factor	gene	DOID:0050475	Weill-Marchesani syndrome		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:15223607|REF_RGD_ID:9150949
8789275	Tnf	tumor necrosis factor	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:11429	D	RGD:9068941	20220825	MouseDO			
8789275	Tnf	tumor necrosis factor	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15086448|PMID:27793764
8789275	Tnf	tumor necrosis factor	gene	DOID:0050589	inflammatory bowel disease	treatment	ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:12184521|REF_RGD_ID:10450573
8789275	Tnf	tumor necrosis factor	gene	DOID:0050642	hypochromic microcytic anemia		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Arthritis, Rheumatoid	PMID:18205195|REF_RGD_ID:10450526
8789275	Tnf	tumor necrosis factor	gene	DOID:0050685	small cell carcinoma	severity	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:decreased secretion:whole blood	PMID:8624296|REF_RGD_ID:4142840
8789275	Tnf	tumor necrosis factor	gene	DOID:0050697	chorioamnionitis	no_association	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human)	PMID:15128916|REF_RGD_ID:12904055
8789275	Tnf	tumor necrosis factor	gene	DOID:0050697	chorioamnionitis	severity	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human)	PMID:15128916|REF_RGD_ID:12904055
8789275	Tnf	tumor necrosis factor	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10716473
8789275	Tnf	tumor necrosis factor	gene	DOID:0050700	cardiomyopathy	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:24441175|REF_RGD_ID:10450596
8789275	Tnf	tumor necrosis factor	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:14633242|PMID:20846669|REF_RGD_ID:4142857|REF_RGD_ID:4143435
8789275	Tnf	tumor necrosis factor	gene	DOID:0050848	obstructive sleep apnea	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter: c.-308G>A (human)	PMID:19022640|REF_RGD_ID:4143442
8789275	Tnf	tumor necrosis factor	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:3876	D	RGD:9068941	20220715	RGD		associated with social isolation;protein:increased expression:tongue (rat)	PMID:33411841|REF_RGD_ID:152998999
8789275	Tnf	tumor necrosis factor	gene	DOID:0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:24119107|REF_RGD_ID:10059681
8789275	Tnf	tumor necrosis factor	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow	PMID:10697556|REF_RGD_ID:10450881
8789275	Tnf	tumor necrosis factor	gene	DOID:0050908	myelodysplastic syndrome	disease_progression	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15888251|REF_RGD_ID:10450530
8789275	Tnf	tumor necrosis factor	gene	DOID:0051061	stroke		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10950380
8789275	Tnf	tumor necrosis factor	gene	DOID:0051061	stroke		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:21171972|REF_RGD_ID:4891154
8789275	Tnf	tumor necrosis factor	gene	DOID:0051061	stroke	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Anemia, Sickle Cell;DNA:polymorphism:promoter:-308G>A(rs1800629)(human)	PMID:14615367|REF_RGD_ID:11529997
8789275	Tnf	tumor necrosis factor	gene	DOID:0060180	colitis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23810507|PMID:24548422
8789275	Tnf	tumor necrosis factor	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
8789275	Tnf	tumor necrosis factor	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Heart Valve Diseases;protein:increased expression:right atrium:	PMID:19169931|REF_RGD_ID:7401239
8789275	Tnf	tumor necrosis factor	gene	DOID:0060311	adenoid hypertrophy	treatment	ISO	RGD:3876	D	RGD:9068941	20260409	RGD			PMID:38572767|REF_RGD_ID:645122487
8789275	Tnf	tumor necrosis factor	gene	DOID:0060319	cardiac arrest		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9806674
8789275	Tnf	tumor necrosis factor	gene	DOID:0060319	cardiac arrest		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:18679114|REF_RGD_ID:4889454
8789275	Tnf	tumor necrosis factor	gene	DOID:0060496	respiratory allergy		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18394133
8789275	Tnf	tumor necrosis factor	gene	DOID:0060500	drug allergy		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11294926|PMID:20485159
8789275	Tnf	tumor necrosis factor	gene	DOID:0060643	primary sclerosing cholangitis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:9047083|REF_RGD_ID:14995307
8789275	Tnf	tumor necrosis factor	gene	DOID:0060903	thrombosis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19691487
8789275	Tnf	tumor necrosis factor	gene	DOID:0061092	immunodeficiency 127		ISO	RGD:1344192	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 127	
8789275	Tnf	tumor necrosis factor	gene	DOID:0061092	immunodeficiency 127	susceptibility	ISO	RGD:1344192	D	RGD:7240710	20260603	OMIM			
8789275	Tnf	tumor necrosis factor	gene	DOID:0070227	intrahepatic cholestasis of pregnancy		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23627780
8789275	Tnf	tumor necrosis factor	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-238G>A (human)	PMID:9214463|REF_RGD_ID:14995434
8789275	Tnf	tumor necrosis factor	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	ISO	RGD:3876	D	RGD:9068941	20240801	RGD			PMID:20143470|PMID:29399060|REF_RGD_ID:38508901|REF_RGD_ID:407424599
8789275	Tnf	tumor necrosis factor	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:7556590|REF_RGD_ID:14995472
8789275	Tnf	tumor necrosis factor	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:3876	D	RGD:9068941	20250403	RGD		protein:increased expression:liver	PMID:12878926|REF_RGD_ID:598108047
8789275	Tnf	tumor necrosis factor	gene	DOID:0070658	alcohol-associated liver disease	treatment	ISO	RGD:3876	D	RGD:9068941	20240801	RGD			PMID:15670576|PMID:31116255|PMID:9397994|REF_RGD_ID:14398736|REF_RGD_ID:14995456|REF_RGD_ID:407424600
8789275	Tnf	tumor necrosis factor	gene	DOID:0080158	herpes simplex virus keratitis		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:12162877|REF_RGD_ID:8157603
8789275	Tnf	tumor necrosis factor	gene	DOID:0080158	herpes simplex virus keratitis		ISO	RGD:11429	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cornea	PMID:10624423|REF_RGD_ID:7401196
8789275	Tnf	tumor necrosis factor	gene	DOID:0080160	cytomegalovirus retinitis		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:22072377|REF_RGD_ID:7394768
8789275	Tnf	tumor necrosis factor	gene	DOID:0080160	cytomegalovirus retinitis		ISO	RGD:11429	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:eye:	PMID:17389501|REF_RGD_ID:7394808
8789275	Tnf	tumor necrosis factor	gene	DOID:0080162	lupus nephritis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:glomerular mesangial cell	PMID:7750940|REF_RGD_ID:7394786
8789275	Tnf	tumor necrosis factor	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1344192	D	RGD:9068941	20210709	CTD		CTD Direct Evidence: marker/mechanism	PMID:32613381
8789275	Tnf	tumor necrosis factor	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, liver (rat)	PMID:19034968|REF_RGD_ID:14995482
8789275	Tnf	tumor necrosis factor	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	severity	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with morbid obesity	PMID:25894568|REF_RGD_ID:14975151
8789275	Tnf	tumor necrosis factor	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:25219124|REF_RGD_ID:10450574
8789275	Tnf	tumor necrosis factor	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:11429	D	RGD:9068941	20210702	RGD		mRNA:increased expression:liver (mouse)	PMID:28100771|REF_RGD_ID:127285675
8789275	Tnf	tumor necrosis factor	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	susceptibility	ISO	RGD:3876	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:20606728|REF_RGD_ID:21076282
8789275	Tnf	tumor necrosis factor	gene	DOID:0080599	Coronavirus infectious disease		ISO	RGD:11429	D	RGD:9068941	20200618	RGD			PMID:19906920|REF_RGD_ID:4891446
8789275	Tnf	tumor necrosis factor	gene	DOID:0080600	COVID-19		ISO	RGD:1344192	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease COVID-19	PMID:12759288|PMID:16720636|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668
8789275	Tnf	tumor necrosis factor	gene	DOID:0080600	COVID-19	disease_progression	ISO	RGD:1344192	D	RGD:9068941	20200618	RGD		associated with diabetes mellitus	PMID:32345579|REF_RGD_ID:30296681
8789275	Tnf	tumor necrosis factor	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1344192	D	RGD:9068941	20200619	RGD		protein:increased expression:plasma (human)	PMID:31986264|REF_RGD_ID:30309212
8789275	Tnf	tumor necrosis factor	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1344192	D	RGD:9068941	20200625	RGD		protein:increased expression:serum (human)	PMID:32365221|PMID:32427582|REF_RGD_ID:30309200|REF_RGD_ID:30310229
8789275	Tnf	tumor necrosis factor	gene	DOID:0080642	Middle East respiratory syndrome		ISO	RGD:11429	D	RGD:9068941	20200625	RGD		protein:increased expression:serum:	PMID:30634407|REF_RGD_ID:30309958
8789275	Tnf	tumor necrosis factor	gene	DOID:0080745	polymyositis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7979221
8789275	Tnf	tumor necrosis factor	gene	DOID:0080750	erythema nodosum	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human)	PMID:12198697|REF_RGD_ID:7364926
8789275	Tnf	tumor necrosis factor	gene	DOID:0080820	occupational asthma		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25721048
8789275	Tnf	tumor necrosis factor	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:21831964|PMID:28338241|REF_RGD_ID:13503338|REF_RGD_ID:7247422
8789275	Tnf	tumor necrosis factor	gene	DOID:0081120	Graves ophthalmopathy		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:8444271|REF_RGD_ID:7794734
8789275	Tnf	tumor necrosis factor	gene	DOID:0081120	Graves ophthalmopathy		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-863C>A (human)	PMID:16191343|REF_RGD_ID:12904066
8789275	Tnf	tumor necrosis factor	gene	DOID:0081120	Graves ophthalmopathy	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-238G>A (rs361525) (human)	PMID:15219383|REF_RGD_ID:7365073
8789275	Tnf	tumor necrosis factor	gene	DOID:0081292	traumatic brain injury		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28642177
8789275	Tnf	tumor necrosis factor	gene	DOID:0110429	dilated cardiomyopathy 1H	severity	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:14676433|REF_RGD_ID:7401234
8789275	Tnf	tumor necrosis factor	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:16988499|PMID:23165380|REF_RGD_ID:7387303|REF_RGD_ID:7394704
8789275	Tnf	tumor necrosis factor	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Hearing Loss, Sensorineural;protein:increased expression:serum:	PMID:19684145|REF_RGD_ID:8142347
8789275	Tnf	tumor necrosis factor	gene	DOID:10140	dry eye syndrome	treatment	ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:23211823|REF_RGD_ID:8694422
8789275	Tnf	tumor necrosis factor	gene	DOID:10223	dermatomyositis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19035492
8789275	Tnf	tumor necrosis factor	gene	DOID:1024	leprosy	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:&#8722;308G>A (human)	PMID:20650301|REF_RGD_ID:8694069
8789275	Tnf	tumor necrosis factor	gene	DOID:10241	thalassemia		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:11732868|REF_RGD_ID:10450569
8789275	Tnf	tumor necrosis factor	gene	DOID:10247	pleurisy		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:11161459|REF_RGD_ID:4143474
8789275	Tnf	tumor necrosis factor	gene	DOID:10247	pleurisy		ISO	RGD:1344192	D	RGD:9068941	20240905	CTD		CTD Direct Evidence: marker/mechanism	PMID:11181422
8789275	Tnf	tumor necrosis factor	gene	DOID:10247	pleurisy		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:20141620|REF_RGD_ID:4142808
8789275	Tnf	tumor necrosis factor	gene	DOID:10283	prostate cancer		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:19851870|REF_RGD_ID:2315114
8789275	Tnf	tumor necrosis factor	gene	DOID:10320	asbestosis		ISO	RGD:1344192	D	RGD:9068941	20210212	CTD		CTD Direct Evidence: marker/mechanism	PMID:20486865|PMID:8473757
8789275	Tnf	tumor necrosis factor	gene	DOID:10322	berylliosis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12449171|PMID:15127972|PMID:16980557|PMID:8428540
8789275	Tnf	tumor necrosis factor	gene	DOID:10325	silicosis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :	PMID:11264025|REF_RGD_ID:4142816
8789275	Tnf	tumor necrosis factor	gene	DOID:10325	silicosis	treatment	ISO	RGD:11429	D	RGD:9068941	20260226	RGD			PMID:39550922|REF_RGD_ID:632518405
8789275	Tnf	tumor necrosis factor	gene	DOID:10325	silicosis	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:25199287|REF_RGD_ID:10450591
8789275	Tnf	tumor necrosis factor	gene	DOID:10327	anthracosis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20005085
8789275	Tnf	tumor necrosis factor	gene	DOID:10533	viral pneumonia	treatment	ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:25219125|REF_RGD_ID:10450576
8789275	Tnf	tumor necrosis factor	gene	DOID:10591	pre-eclampsia		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:15901845|REF_RGD_ID:1580314
8789275	Tnf	tumor necrosis factor	gene	DOID:10591	pre-eclampsia	ameliorates	ISO	RGD:3876	D	RGD:9068941	20230323	RGD			PMID:31203154|REF_RGD_ID:213230155
8789275	Tnf	tumor necrosis factor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1344192	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALZHEIMER DISEASE, PROTECTION AGAINST | ClinVar Annotator: match by term: ALZHEIMER DISEASE, SUSCEPTIBILITY TO	
8789275	Tnf	tumor necrosis factor	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-308G>A(human)	PMID:15468911|REF_RGD_ID:13825256
8789275	Tnf	tumor necrosis factor	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:multiple(human)	PMID:18834925|REF_RGD_ID:13825257
8789275	Tnf	tumor necrosis factor	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-308G>A(human)	PMID:16516271|REF_RGD_ID:13825253
8789275	Tnf	tumor necrosis factor	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-308G>A(human)	PMID:18992723|REF_RGD_ID:13825248
8789275	Tnf	tumor necrosis factor	gene	DOID:1067	open-angle glaucoma	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP: :-308G>A(rs1800629)(human)	PMID:20357201|REF_RGD_ID:7387247
8789275	Tnf	tumor necrosis factor	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphisms, haplotype:promoter:-857C>T, -863C>A (human)	PMID:15557444|REF_RGD_ID:7775041
8789275	Tnf	tumor necrosis factor	gene	DOID:1073	renal hypertension		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22188107|REF_RGD_ID:6907405
8789275	Tnf	tumor necrosis factor	gene	DOID:10754	otitis media		IEP		D	RGD:11553900|PMID:10085040	20161017	RGD			
8789275	Tnf	tumor necrosis factor	gene	DOID:10762	portal hypertension		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		mRNA:increased expression:stomach (rat)	PMID:9198288|PMID:9834372|REF_RGD_ID:14688051|REF_RGD_ID:14995426
8789275	Tnf	tumor necrosis factor	gene	DOID:10762	portal hypertension	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:10070045|PMID:7875478|PMID:9537427|REF_RGD_ID:14975128|REF_RGD_ID:14985259|REF_RGD_ID:14995425
8789275	Tnf	tumor necrosis factor	gene	DOID:10763	hypertension		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:16202847|REF_RGD_ID:1580312
8789275	Tnf	tumor necrosis factor	gene	DOID:10763	hypertension		ISO	RGD:1344192	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:18605955|PMID:27292124|PMID:27659729|PMID:27847271|PMID:32147540
8789275	Tnf	tumor necrosis factor	gene	DOID:10763	hypertension		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:9590569|REF_RGD_ID:1357163
8789275	Tnf	tumor necrosis factor	gene	DOID:10763	hypertension	ameliorates	ISO	RGD:3876	D	RGD:9068941	20230831	RGD		associated with Cardiac Fibrosis	PMID:25715999|REF_RGD_ID:401794570
8789275	Tnf	tumor necrosis factor	gene	DOID:10763	hypertension	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:16415373|REF_RGD_ID:1580207
8789275	Tnf	tumor necrosis factor	gene	DOID:10808	gastric ulcer		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15138204
8789275	Tnf	tumor necrosis factor	gene	DOID:10825	essential hypertension		ISO	RGD:1344192	D	RGD:9068941	20221110	CTD		CTD Direct Evidence: marker/mechanism	PMID:34453990
8789275	Tnf	tumor necrosis factor	gene	DOID:10923	sickle cell anemia		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14965870
8789275	Tnf	tumor necrosis factor	gene	DOID:10923	sickle cell anemia		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:8140855|REF_RGD_ID:10449460
8789275	Tnf	tumor necrosis factor	gene	DOID:10941	intracranial aneurysm	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:24628611|REF_RGD_ID:10450592
8789275	Tnf	tumor necrosis factor	gene	DOID:10964	cholesteatoma of middle ear		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Otitis Media;protein:increased expression:ear:	PMID:21311206|REF_RGD_ID:7364848
8789275	Tnf	tumor necrosis factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:1674182
8789275	Tnf	tumor necrosis factor	gene	DOID:1115	sarcoma		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15675481|PMID:16767912|PMID:17203757|PMID:9794839
8789275	Tnf	tumor necrosis factor	gene	DOID:11168	anogenital venereal wart		ISO	RGD:1344192	D	RGD:9068941	20201105	RGD		protein:increased expression:peripheral blood mononuclear cells (human)	PMID:23754510|REF_RGD_ID:40400714
8789275	Tnf	tumor necrosis factor	gene	DOID:1123	spondyloarthropathy		ISO	RGD:11429	D	RGD:9068941	20220825	MouseDO		OMIM:106300	
8789275	Tnf	tumor necrosis factor	gene	DOID:11247	disseminated intravascular coagulation	severity	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Hemorrhagic Fever, Crimean	PMID:16518755|REF_RGD_ID:10450536
8789275	Tnf	tumor necrosis factor	gene	DOID:11263	chlamydia		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19203382
8789275	Tnf	tumor necrosis factor	gene	DOID:11265	trachoma		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotypes:promoter:&#8722;308G>A (human)	PMID:17330135|REF_RGD_ID:8548830
8789275	Tnf	tumor necrosis factor	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated lung injury; DNA:polymorphism:promoter:	PMID:16135717|REF_RGD_ID:4143247
8789275	Tnf	tumor necrosis factor	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21062445|REF_RGD_ID:5128683
8789275	Tnf	tumor necrosis factor	gene	DOID:11396	pulmonary edema		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:Bronchoalveolar Lavage Fluid	PMID:9628235|REF_RGD_ID:4142833
8789275	Tnf	tumor necrosis factor	gene	DOID:11396	pulmonary edema		ISO	RGD:1344192	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:21188088|PMID:34390737
8789275	Tnf	tumor necrosis factor	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:22173123|REF_RGD_ID:7364836
8789275	Tnf	tumor necrosis factor	gene	DOID:11573	listeriosis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16751399
8789275	Tnf	tumor necrosis factor	gene	DOID:11650	bronchopulmonary dysplasia	no_association	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-308G>A (human)	PMID:15286263|REF_RGD_ID:12904049
8789275	Tnf	tumor necrosis factor	gene	DOID:11650	bronchopulmonary dysplasia	severity	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-238A>G (human)	PMID:15286263|REF_RGD_ID:12904049
8789275	Tnf	tumor necrosis factor	gene	DOID:11656	cicatricial pemphigoid		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:Conjunctiva:	PMID:7750940|REF_RGD_ID:7394786
8789275	Tnf	tumor necrosis factor	gene	DOID:11713	diabetic angiopathy	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:c.-308G>A (human)	PMID:18575614|REF_RGD_ID:2313255
8789275	Tnf	tumor necrosis factor	gene	DOID:11758	iron deficiency anemia		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:rs1800629 (human)	PMID:18716131|REF_RGD_ID:10450563
8789275	Tnf	tumor necrosis factor	gene	DOID:1176	bronchial disease	treatment	ISO	RGD:3876	D	RGD:9068941	20260730	RGD			PMID:36152413|REF_RGD_ID:736802360
8789275	Tnf	tumor necrosis factor	gene	DOID:11823	hepatorenal syndrome		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:18093430|REF_RGD_ID:4144102
8789275	Tnf	tumor necrosis factor	gene	DOID:11963	esophagitis	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1799724(human)	PMID:20811626|REF_RGD_ID:5131286
8789275	Tnf	tumor necrosis factor	gene	DOID:1205	allergic disease		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16095146|PMID:21625544
8789275	Tnf	tumor necrosis factor	gene	DOID:12098	trigeminal neuralgia		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
8789275	Tnf	tumor necrosis factor	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:9047083|REF_RGD_ID:14995307
8789275	Tnf	tumor necrosis factor	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1344192	D	RGD:9068941	20200820	RGD		mRNA:increased expression:liver	PMID:17158635|REF_RGD_ID:38501106
8789275	Tnf	tumor necrosis factor	gene	DOID:12236	primary biliary cholangitis	disease_progression	ISO	RGD:1344192	D	RGD:9068941	20240801	RGD		protein:increased expression:blood serum(human)	PMID:21275501|REF_RGD_ID:407420272
8789275	Tnf	tumor necrosis factor	gene	DOID:12241	beta thalassemia		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:3' utr	PMID:19103526|REF_RGD_ID:10449458
8789275	Tnf	tumor necrosis factor	gene	DOID:1227	neutropenia		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:15986200|REF_RGD_ID:1580321
8789275	Tnf	tumor necrosis factor	gene	DOID:12297	Vogt-Koyanagi-Harada disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with uveitis;protein:increased expression:aqueous humor:	PMID:21334264|REF_RGD_ID:8142356
8789275	Tnf	tumor necrosis factor	gene	DOID:12306	vitiligo		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28836394
8789275	Tnf	tumor necrosis factor	gene	DOID:12306	vitiligo		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:skin	PMID:16911396|REF_RGD_ID:7794736
8789275	Tnf	tumor necrosis factor	gene	DOID:12351	alcoholic hepatitis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12586603
8789275	Tnf	tumor necrosis factor	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:3876	D	RGD:9068941	20250417	RGD			PMID:27939985|PMID:35733194|REF_RGD_ID:15036816|REF_RGD_ID:598130075
8789275	Tnf	tumor necrosis factor	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP: :-308G>A(rs1800629)(human)	PMID:15219383|REF_RGD_ID:7365073
8789275	Tnf	tumor necrosis factor	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNPs: :-238G>A(rs361525),419G>A(rs3093661)(human)	PMID:19732761|REF_RGD_ID:7394807
8789275	Tnf	tumor necrosis factor	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :-863A>C	PMID:17348243|REF_RGD_ID:7394790
8789275	Tnf	tumor necrosis factor	gene	DOID:12365	malaria		ISO	RGD:1344192	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MALARIA, CEREBRAL, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to	PMID:12759288|PMID:16720636|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668
8789275	Tnf	tumor necrosis factor	gene	DOID:12365	malaria	susceptibility	ISO	RGD:1344192	D	RGD:7240710	20260603	OMIM			
8789275	Tnf	tumor necrosis factor	gene	DOID:12449	aplastic anemia		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-308G>A (human)	PMID:12941546|REF_RGD_ID:10449452
8789275	Tnf	tumor necrosis factor	gene	DOID:12549	hepatitis A		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:9047083|REF_RGD_ID:14995307
8789275	Tnf	tumor necrosis factor	gene	DOID:12554	hemolytic-uremic syndrome		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15384034
8789275	Tnf	tumor necrosis factor	gene	DOID:12662	paracoccidioidomycosis	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:&#8722;308G>A(human)	PMID:17145373|REF_RGD_ID:7401182
8789275	Tnf	tumor necrosis factor	gene	DOID:12678	hypercalcemia		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10638776
8789275	Tnf	tumor necrosis factor	gene	DOID:1270	hereditary hemorrhagic telangiectasia		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood, lymphocyte	PMID:16611101|REF_RGD_ID:10450733
8789275	Tnf	tumor necrosis factor	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:11429	D	RGD:9068941	20200609	RGD		protein:increased expression:Bronchoalveolar lavage fluid	PMID:15791294|REF_RGD_ID:4145715
8789275	Tnf	tumor necrosis factor	gene	DOID:12732	intermediate uveitis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs361525,rs1800629(human)	PMID:23378732|REF_RGD_ID:7365041
8789275	Tnf	tumor necrosis factor	gene	DOID:12783	migraine without aura		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:14718719|REF_RGD_ID:1580316
8789275	Tnf	tumor necrosis factor	gene	DOID:12800	mucopolysaccharidosis VI	treatment	ISO	RGD:3876	D	RGD:9068941	20210514	RGD			PMID:21887218|REF_RGD_ID:39131283
8789275	Tnf	tumor necrosis factor	gene	DOID:12849	autistic disorder	treatment	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:26418275|REF_RGD_ID:12792236
8789275	Tnf	tumor necrosis factor	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :-1031T>C(human)	PMID:22703762|REF_RGD_ID:7394766
8789275	Tnf	tumor necrosis factor	gene	DOID:12894	Sjogren's syndrome	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:24941846|REF_RGD_ID:10450595
8789275	Tnf	tumor necrosis factor	gene	DOID:12895	keratoconjunctivitis sicca		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Sjogren's Syndrome;mRNA:increased expression:conjunctiva:	PMID:10487957|REF_RGD_ID:7829756
8789275	Tnf	tumor necrosis factor	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:11429	D	RGD:9068941	20240425	MouseDO			
8789275	Tnf	tumor necrosis factor	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:14984724|REF_RGD_ID:7401238
8789275	Tnf	tumor necrosis factor	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:8652010|REF_RGD_ID:12904655
8789275	Tnf	tumor necrosis factor	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:15765524|REF_RGD_ID:1580604
8789275	Tnf	tumor necrosis factor	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:11429	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21221075|REF_RGD_ID:7245511
8789275	Tnf	tumor necrosis factor	gene	DOID:13141	uveitis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:1318867|PMID:20673052|REF_RGD_ID:7394761|REF_RGD_ID:7401178
8789275	Tnf	tumor necrosis factor	gene	DOID:13141	uveitis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Behcet Syndrome; protein:increased expression:serum:	PMID:15209464|REF_RGD_ID:7387294
8789275	Tnf	tumor necrosis factor	gene	DOID:13141	uveitis		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:8125721|REF_RGD_ID:7401166
8789275	Tnf	tumor necrosis factor	gene	DOID:13141	uveitis	disease_progression	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum,Aqueous Humor:	PMID:11586057|REF_RGD_ID:7394806
8789275	Tnf	tumor necrosis factor	gene	DOID:13141	uveitis	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:19440225|REF_RGD_ID:13825264
8789275	Tnf	tumor necrosis factor	gene	DOID:13166	allergic bronchopulmonary aspergillosis		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:8699818|REF_RGD_ID:7794730
8789275	Tnf	tumor necrosis factor	gene	DOID:13241	Behcet's disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:20601837|REF_RGD_ID:7394759
8789275	Tnf	tumor necrosis factor	gene	DOID:13241	Behcet's disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter	PMID:12632436|REF_RGD_ID:12904036
8789275	Tnf	tumor necrosis factor	gene	DOID:13241	Behcet's disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Uveitis;protein:increased expression:aqueous humor:	PMID:21334264|REF_RGD_ID:8142356
8789275	Tnf	tumor necrosis factor	gene	DOID:13241	Behcet's disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:14600787|REF_RGD_ID:7401213
8789275	Tnf	tumor necrosis factor	gene	DOID:13241	Behcet's disease	no_association	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-308G>A (human)	PMID:12770792|REF_RGD_ID:12904048
8789275	Tnf	tumor necrosis factor	gene	DOID:13241	Behcet's disease	no_association	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human)	PMID:15875188|REF_RGD_ID:12904040
8789275	Tnf	tumor necrosis factor	gene	DOID:13258	typhoid fever	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200716	RGD		DNA:SNP:promoter:-308G>A (rs1800629) (human)	PMID:11120931|REF_RGD_ID:36049756
8789275	Tnf	tumor necrosis factor	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20416219|REF_RGD_ID:4145765
8789275	Tnf	tumor necrosis factor	gene	DOID:13378	Kawasaki disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:14703611|PMID:8777922|REF_RGD_ID:1580318|REF_RGD_ID:7401221
8789275	Tnf	tumor necrosis factor	gene	DOID:13378	Kawasaki disease	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP: :-308G>A (human)	PMID:18710885|REF_RGD_ID:9495921
8789275	Tnf	tumor necrosis factor	gene	DOID:13378	Kawasaki disease	treatment	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:14744383|REF_RGD_ID:7401183
8789275	Tnf	tumor necrosis factor	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:15653992|REF_RGD_ID:4143466
8789275	Tnf	tumor necrosis factor	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter	PMID:20070603|REF_RGD_ID:4143236
8789275	Tnf	tumor necrosis factor	gene	DOID:13413	hepatic encephalopathy		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16338762|PMID:9696492
8789275	Tnf	tumor necrosis factor	gene	DOID:13452	scleritis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:23177360|REF_RGD_ID:7394776
8789275	Tnf	tumor necrosis factor	gene	DOID:13544	low tension glaucoma		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphism, haplotype:promoter: -863C>A (human)	PMID:15557444|REF_RGD_ID:7775041
8789275	Tnf	tumor necrosis factor	gene	DOID:13580	cholestasis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20626112
8789275	Tnf	tumor necrosis factor	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28789951
8789275	Tnf	tumor necrosis factor	gene	DOID:13636	Fanconi anemia		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22628295
8789275	Tnf	tumor necrosis factor	gene	DOID:13636	Fanconi anemia		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:24021704|PMID:8438880|REF_RGD_ID:10450524|REF_RGD_ID:11049161
8789275	Tnf	tumor necrosis factor	gene	DOID:13677	SAPHO syndrome		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27108452
8789275	Tnf	tumor necrosis factor	gene	DOID:13949	interstitial cystitis	treatment	ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:16622179|REF_RGD_ID:7245525
8789275	Tnf	tumor necrosis factor	gene	DOID:13976	peptic esophagitis		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:15942680|REF_RGD_ID:1580209
8789275	Tnf	tumor necrosis factor	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23274713
8789275	Tnf	tumor necrosis factor	gene	DOID:14067	Plasmodium falciparum malaria	severity	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:1984482|REF_RGD_ID:10450571
8789275	Tnf	tumor necrosis factor	gene	DOID:1407	anterior uveitis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype:promoter:-857 C>T (human)	PMID:15851552|REF_RGD_ID:8548818
8789275	Tnf	tumor necrosis factor	gene	DOID:14115	toxic shock syndrome		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20054000
8789275	Tnf	tumor necrosis factor	gene	DOID:14115	toxic shock syndrome		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:peritoneal macrophage, cell surface (rat)	PMID:12622907|REF_RGD_ID:1598936
8789275	Tnf	tumor necrosis factor	gene	DOID:14115	toxic shock syndrome	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:2213560|REF_RGD_ID:10449465
8789275	Tnf	tumor necrosis factor	gene	DOID:14330	Parkinson's disease		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21318773
8789275	Tnf	tumor necrosis factor	gene	DOID:14453	farmer's lung		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased secretion:macrophage	PMID:8466130|REF_RGD_ID:4143375
8789275	Tnf	tumor necrosis factor	gene	DOID:14550	root resorption		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:22372265|REF_RGD_ID:13825431
8789275	Tnf	tumor necrosis factor	gene	DOID:1468	labyrinthitis		ISO	RGD:11429	D	RGD:9068941	20200609	RGD		protein:increased expression: cochleas, endolymphatic sac:	PMID:12943369|REF_RGD_ID:7394706
8789275	Tnf	tumor necrosis factor	gene	DOID:1485	cystic fibrosis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum	PMID:7537567|REF_RGD_ID:4142846
8789275	Tnf	tumor necrosis factor	gene	DOID:1485	cystic fibrosis	severity	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphism, haplotype:promoter:&#8722;308G>A (rs1800629) (human)	PMID:21993476|REF_RGD_ID:6767553
8789275	Tnf	tumor necrosis factor	gene	DOID:1555	urticaria		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12121561|PMID:19250144|PMID:20485159
8789275	Tnf	tumor necrosis factor	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:3876	D	RGD:9068941	20250417	RGD			PMID:29685140|PMID:30926569|PMID:31840601|PMID:32664441|REF_RGD_ID:597805903|REF_RGD_ID:598092587|REF_RGD_ID:598092600|REF_RGD_ID:598130077
8789275	Tnf	tumor necrosis factor	gene	DOID:1579	respiratory system disease		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22414385
8789275	Tnf	tumor necrosis factor	gene	DOID:1588	thrombocytopenia		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Hemorrhagic Fever with Renal Syndrome;DNA:SNP:promoter:-238G>A (human)	PMID:16987073|REF_RGD_ID:10449459
8789275	Tnf	tumor necrosis factor	gene	DOID:1588	thrombocytopenia	severity	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Malaria, Vivax	PMID:25128199|REF_RGD_ID:11041893
8789275	Tnf	tumor necrosis factor	gene	DOID:1612	breast cancer		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19967414|REF_RGD_ID:2315111
8789275	Tnf	tumor necrosis factor	gene	DOID:1612	breast cancer	no_association	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:17216494|REF_RGD_ID:8548779
8789275	Tnf	tumor necrosis factor	gene	DOID:1612	breast cancer	no_association	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:multiple	PMID:11841482|REF_RGD_ID:8548791
8789275	Tnf	tumor necrosis factor	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs361525 (human)	PMID:17216494|REF_RGD_ID:8548779
8789275	Tnf	tumor necrosis factor	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphism, haplotype:promoter:-308G>A (human)	PMID:18409070|REF_RGD_ID:8548786
8789275	Tnf	tumor necrosis factor	gene	DOID:1679	cystitis		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		mRNA:increased expression:urinary bladder	PMID:11948286|REF_RGD_ID:6907118
8789275	Tnf	tumor necrosis factor	gene	DOID:1686	glaucoma		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:17151265|REF_RGD_ID:7394785
8789275	Tnf	tumor necrosis factor	gene	DOID:1686	glaucoma		ISO	RGD:11429	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:20574020|REF_RGD_ID:7394760
8789275	Tnf	tumor necrosis factor	gene	DOID:1686	glaucoma		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:22802951|REF_RGD_ID:7394770
8789275	Tnf	tumor necrosis factor	gene	DOID:1686	glaucoma		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:20574020|REF_RGD_ID:7394760
8789275	Tnf	tumor necrosis factor	gene	DOID:1712	aortic valve stenosis		ISO	RGD:11429	D	RGD:9068941	20220825	MouseDO		OMIM:109730 | OMIM:614823	
8789275	Tnf	tumor necrosis factor	gene	DOID:178	vascular disease		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14965870
8789275	Tnf	tumor necrosis factor	gene	DOID:1793	pancreatic cancer		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16211219
8789275	Tnf	tumor necrosis factor	gene	DOID:182	calcinosis		ISO	RGD:1344192	D	RGD:9068941	20201218	CTD		CTD Direct Evidence: marker/mechanism	PMID:30963258
8789275	Tnf	tumor necrosis factor	gene	DOID:1824	status epilepticus		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18455351
8789275	Tnf	tumor necrosis factor	gene	DOID:1824	status epilepticus		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:20649973|REF_RGD_ID:4143383
8789275	Tnf	tumor necrosis factor	gene	DOID:1826	epilepsy		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:brain,plasma	PMID:28303499|REF_RGD_ID:13524859
8789275	Tnf	tumor necrosis factor	gene	DOID:1875	impotence	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:24467772|REF_RGD_ID:9495931
8789275	Tnf	tumor necrosis factor	gene	DOID:1909	melanoma		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10379864|PMID:18388930|PMID:9794839|PMID:9843018
8789275	Tnf	tumor necrosis factor	gene	DOID:1926	Gaucher's disease	severity	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-308G>A (human)	PMID:15919211|REF_RGD_ID:12904037
8789275	Tnf	tumor necrosis factor	gene	DOID:1936	atherosclerosis		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:15823270|REF_RGD_ID:7401235
8789275	Tnf	tumor necrosis factor	gene	DOID:1936	atherosclerosis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20720404
8789275	Tnf	tumor necrosis factor	gene	DOID:1936	atherosclerosis	ameliorates	ISO	RGD:11429	D	RGD:9068941	20230330	RGD			PMID:35854140|REF_RGD_ID:242905195
8789275	Tnf	tumor necrosis factor	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:11429	D	RGD:9068941	20230930	RGD			PMID:29593532|REF_RGD_ID:401827839
8789275	Tnf	tumor necrosis factor	gene	DOID:2018	hyperinsulinism		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29035695
8789275	Tnf	tumor necrosis factor	gene	DOID:2030	anxiety disorder		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20194079
8789275	Tnf	tumor necrosis factor	gene	DOID:2043	hepatitis B	no_association	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-308G>A (rs1800629) (human)	PMID:27644568|REF_RGD_ID:14975150
8789275	Tnf	tumor necrosis factor	gene	DOID:2043	hepatitis B	severity	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-863C>A, -308A>G (human)	PMID:12915457|REF_RGD_ID:14995438
8789275	Tnf	tumor necrosis factor	gene	DOID:2043	hepatitis B	treatment	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-857C>T  (rs1799724) (human)	PMID:27644568|REF_RGD_ID:14975150
8789275	Tnf	tumor necrosis factor	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:9047083|REF_RGD_ID:14995307
8789275	Tnf	tumor necrosis factor	gene	DOID:2237	hepatitis		ISO	RGD:1344192	D	RGD:9068941	20241205	CTD		CTD Direct Evidence: marker/mechanism	PMID:25200604
8789275	Tnf	tumor necrosis factor	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		mRNA:increased expression:striatum,hippocampus:	PMID:11412877|REF_RGD_ID:13825263
8789275	Tnf	tumor necrosis factor	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:24053818|REF_RGD_ID:7364868
8789275	Tnf	tumor necrosis factor	gene	DOID:2280	hidradenitis suppurativa		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphism,haplotype:promoter:-238G>A(human)	PMID:23106544|REF_RGD_ID:7777155
8789275	Tnf	tumor necrosis factor	gene	DOID:2316	brain ischemia		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15756928
8789275	Tnf	tumor necrosis factor	gene	DOID:2352	hemochromatosis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16793930
8789275	Tnf	tumor necrosis factor	gene	DOID:2352	hemochromatosis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-238G>A (rs361525) (human)	PMID:11389006|REF_RGD_ID:12904656
8789275	Tnf	tumor necrosis factor	gene	DOID:2352	hemochromatosis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-308G>A (human)	PMID:16793930|REF_RGD_ID:12904050
8789275	Tnf	tumor necrosis factor	gene	DOID:2355	anemia		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16566752
8789275	Tnf	tumor necrosis factor	gene	DOID:2355	anemia		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Arthritis, Rheumatoid	PMID:14613268|REF_RGD_ID:10450570
8789275	Tnf	tumor necrosis factor	gene	DOID:2355	anemia		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with HIV Infections;protein:increased expression:serum	PMID:2324681|REF_RGD_ID:10450888
8789275	Tnf	tumor necrosis factor	gene	DOID:2377	multiple sclerosis		ISO	RGD:11429	D	RGD:9068941	20240425	MouseDO		OMIM:612594 | OMIM:612595 | OMIM:612596	
8789275	Tnf	tumor necrosis factor	gene	DOID:2377	multiple sclerosis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-308G>A (human)	PMID:8887999|REF_RGD_ID:12904068
8789275	Tnf	tumor necrosis factor	gene	DOID:2377	multiple sclerosis	disease_progression	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:8964914|REF_RGD_ID:7401237
8789275	Tnf	tumor necrosis factor	gene	DOID:2377	multiple sclerosis	no_association	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-308G>A (human)	PMID:9270614|REF_RGD_ID:12904657
8789275	Tnf	tumor necrosis factor	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19825522|REF_RGD_ID:2315115
8789275	Tnf	tumor necrosis factor	gene	DOID:2556	relapsing polychondritis		ISO	RGD:11429	D	RGD:9068941	20200609	RGD		protein:increased expression:ear	PMID:17606507|REF_RGD_ID:6483833
8789275	Tnf	tumor necrosis factor	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:3361654
8789275	Tnf	tumor necrosis factor	gene	DOID:2723	dermatitis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:3171214|REF_RGD_ID:7394823
8789275	Tnf	tumor necrosis factor	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10379864
8789275	Tnf	tumor necrosis factor	gene	DOID:2755	Mycobacterium avium complex disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with HIV Infections	PMID:7640175|REF_RGD_ID:10450731
8789275	Tnf	tumor necrosis factor	gene	DOID:2841	asthma		ISO	RGD:1344192	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Asthma, susceptibility to	PMID:12759288|PMID:16720636|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668
8789275	Tnf	tumor necrosis factor	gene	DOID:2841	asthma	no_association	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:	PMID:12530118|REF_RGD_ID:4143254
8789275	Tnf	tumor necrosis factor	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1344192	D	RGD:7240710	20260603	OMIM			
8789275	Tnf	tumor necrosis factor	gene	DOID:289	endometriosis		ISO	RGD:1344192	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Endometriosis	PMID:12759288|PMID:16720636|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668
8789275	Tnf	tumor necrosis factor	gene	DOID:289	endometriosis	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:21741153|REF_RGD_ID:7247423
8789275	Tnf	tumor necrosis factor	gene	DOID:2917	cryoglobulinemia		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19860001|REF_RGD_ID:10450529
8789275	Tnf	tumor necrosis factor	gene	DOID:2921	glomerulonephritis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10910440|PMID:9403216
8789275	Tnf	tumor necrosis factor	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1344192	D	RGD:9068941	20200625	RGD		protein:increased expression:plasma (human)	PMID:14514395|REF_RGD_ID:30309961
8789275	Tnf	tumor necrosis factor	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1344192	D	RGD:9068941	20200702	RGD		protein:increased expression:bronchoalveolar lavage (human)	PMID:15888207|REF_RGD_ID:34201108
8789275	Tnf	tumor necrosis factor	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:9176116|REF_RGD_ID:4142835
8789275	Tnf	tumor necrosis factor	gene	DOID:2957	pulmonary tuberculosis	disease_progression	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:18212516|REF_RGD_ID:4143395
8789275	Tnf	tumor necrosis factor	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphisms::c.-857 C>T, c. -863 A>C (human)	PMID:20650298|REF_RGD_ID:4143388
8789275	Tnf	tumor necrosis factor	gene	DOID:2986	IgA glomerulonephritis	treatment	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:9844059|REF_RGD_ID:6909132
8789275	Tnf	tumor necrosis factor	gene	DOID:299	adenocarcinoma		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:1733439|PMID:19028472
8789275	Tnf	tumor necrosis factor	gene	DOID:3021	acute kidney failure		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16595132|PMID:18460982|PMID:20623750
8789275	Tnf	tumor necrosis factor	gene	DOID:3021	acute kidney failure	susceptibility	ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:21150875|REF_RGD_ID:7245548
8789275	Tnf	tumor necrosis factor	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15849067
8789275	Tnf	tumor necrosis factor	gene	DOID:3070	high grade glioma		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22199285
8789275	Tnf	tumor necrosis factor	gene	DOID:3070	high grade glioma	treatment	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:11810046|REF_RGD_ID:10450725
8789275	Tnf	tumor necrosis factor	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter	PMID:20352242|REF_RGD_ID:4143273
8789275	Tnf	tumor necrosis factor	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :c. 489G>A (human)	PMID:12537602|REF_RGD_ID:4143421
8789275	Tnf	tumor necrosis factor	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter	PMID:11179116|REF_RGD_ID:4143424
8789275	Tnf	tumor necrosis factor	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20500811|REF_RGD_ID:4143272
8789275	Tnf	tumor necrosis factor	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum	PMID:8564092|REF_RGD_ID:4143270
8789275	Tnf	tumor necrosis factor	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1344192	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: marker/mechanism	PMID:15337792|PMID:29497291
8789275	Tnf	tumor necrosis factor	gene	DOID:3083	chronic obstructive pulmonary disease	disease_progression	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA;polymorphism: :rs361525 (human)	PMID:20299531|REF_RGD_ID:4143391
8789275	Tnf	tumor necrosis factor	gene	DOID:3083	chronic obstructive pulmonary disease	no_association	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:c.-308 G>A (human)	PMID:15820084|REF_RGD_ID:4145714
8789275	Tnf	tumor necrosis factor	gene	DOID:3213	demyelinating disease	treatment	ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:7479982|REF_RGD_ID:12904647
8789275	Tnf	tumor necrosis factor	gene	DOID:3310	atopic dermatitis	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:haplotype:promoter:&#8722;308G>A,-238G>A(human)	PMID:22533231|REF_RGD_ID:7401246
8789275	Tnf	tumor necrosis factor	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:11429	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:13678668|REF_RGD_ID:12904653
8789275	Tnf	tumor necrosis factor	gene	DOID:3393	coronary artery disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-863C>A, in men without Diabetes Mellitus, Type 2 (MeSH:D003924)	PMID:15059615|REF_RGD_ID:1626412
8789275	Tnf	tumor necrosis factor	gene	DOID:3454	brain infarction		ISO	RGD:3876	D	RGD:9068941	20230216	RGD		protein:increased expression:brain (rat)	PMID:19895873|REF_RGD_ID:2325193
8789275	Tnf	tumor necrosis factor	gene	DOID:3458	breast adenocarcinoma		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:12536235|REF_RGD_ID:14995452
8789275	Tnf	tumor necrosis factor	gene	DOID:3492	mixed connective tissue disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:19684145|REF_RGD_ID:8142347
8789275	Tnf	tumor necrosis factor	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:15647744|REF_RGD_ID:13825261
8789275	Tnf	tumor necrosis factor	gene	DOID:3525	middle cerebral artery infarction	ameliorates	ISO	RGD:11429	D	RGD:9068941	20230330	RGD			PMID:28630232|REF_RGD_ID:242905192
8789275	Tnf	tumor necrosis factor	gene	DOID:3525	middle cerebral artery infarction	ameliorates	ISO	RGD:3876	D	RGD:9068941	20230330	RGD			PMID:35322553|REF_RGD_ID:242905190
8789275	Tnf	tumor necrosis factor	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:24916922|PMID:29498696|REF_RGD_ID:10450594|REF_RGD_ID:13792833
8789275	Tnf	tumor necrosis factor	gene	DOID:3526	cerebral infarction		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:16173529|REF_RGD_ID:1580315
8789275	Tnf	tumor necrosis factor	gene	DOID:3526	cerebral infarction	treatment	ISO	RGD:11429	D	RGD:9068941	20220930	RGD			PMID:29111308|REF_RGD_ID:155260331
8789275	Tnf	tumor necrosis factor	gene	DOID:37	skin disease		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8789275	Tnf	tumor necrosis factor	gene	DOID:37	skin disease	severity	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Arsenic Poisoning	PMID:21357384|REF_RGD_ID:7364846
8789275	Tnf	tumor necrosis factor	gene	DOID:37	skin disease	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Arsenic Poisoning;DNA:SNP:promoter:-308G>A (human)	PMID:21357384|REF_RGD_ID:7364846
8789275	Tnf	tumor necrosis factor	gene	DOID:3721	plasmacytoma	treatment	ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:2022919|REF_RGD_ID:10449448
8789275	Tnf	tumor necrosis factor	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:2156165|PMID:7542280|REF_RGD_ID:4142851|REF_RGD_ID:4143417
8789275	Tnf	tumor necrosis factor	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:11429	D	RGD:9068941	20251218	RGD		mRNA:increased expression:lung	PMID:17454104|REF_RGD_ID:629122699
8789275	Tnf	tumor necrosis factor	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11394717|PMID:16324872|PMID:17266442|PMID:25216247|PMID:26368622
8789275	Tnf	tumor necrosis factor	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter	PMID:12030733|REF_RGD_ID:4143258
8789275	Tnf	tumor necrosis factor	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:19154443|REF_RGD_ID:2314537
8789275	Tnf	tumor necrosis factor	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:10541330|REF_RGD_ID:12904053
8789275	Tnf	tumor necrosis factor	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNPs: :	PMID:19505916|REF_RGD_ID:4142793
8789275	Tnf	tumor necrosis factor	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:9669810|REF_RGD_ID:4143264
8789275	Tnf	tumor necrosis factor	gene	DOID:399	tuberculosis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20537163|REF_RGD_ID:4143229
8789275	Tnf	tumor necrosis factor	gene	DOID:4029	gastritis	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:25335260|REF_RGD_ID:10413874
8789275	Tnf	tumor necrosis factor	gene	DOID:4079	heart valve disease		ISO	RGD:11429	D	RGD:9068941	20220825	MouseDO			
8789275	Tnf	tumor necrosis factor	gene	DOID:409	liver disease		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15946935
8789275	Tnf	tumor necrosis factor	gene	DOID:409	liver disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Hemochromatosis;DNA:SNP:promoter:-308G>A (human)	PMID:11389006|REF_RGD_ID:12904656
8789275	Tnf	tumor necrosis factor	gene	DOID:4247	coronary restenosis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16319143
8789275	Tnf	tumor necrosis factor	gene	DOID:4247	coronary restenosis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:16319143|REF_RGD_ID:1580322
8789275	Tnf	tumor necrosis factor	gene	DOID:4306	radiculopathy		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord, dorsal root ganglion	PMID:18848809|REF_RGD_ID:7394750
8789275	Tnf	tumor necrosis factor	gene	DOID:4362	cervical cancer	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-308G>A (human)	PMID:19823053|REF_RGD_ID:2315116
8789275	Tnf	tumor necrosis factor	gene	DOID:4398	pustulosis of palm and sole		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:5' utr:multiple	PMID:12691703|REF_RGD_ID:8548804
8789275	Tnf	tumor necrosis factor	gene	DOID:4398	pustulosis of palm and sole	no_association	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:multiple	PMID:11019918|REF_RGD_ID:8548803
8789275	Tnf	tumor necrosis factor	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:19384924|PMID:19904265|REF_RGD_ID:2315113|REF_RGD_ID:2315119
8789275	Tnf	tumor necrosis factor	gene	DOID:4483	rhinitis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:15120189|REF_RGD_ID:4143470
8789275	Tnf	tumor necrosis factor	gene	DOID:4483	rhinitis		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nose	PMID:20696593|REF_RGD_ID:4145454
8789275	Tnf	tumor necrosis factor	gene	DOID:4692	endophthalmitis		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous:	PMID:16544114|REF_RGD_ID:7829753
8789275	Tnf	tumor necrosis factor	gene	DOID:4724	brain edema		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21276434
8789275	Tnf	tumor necrosis factor	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:21894146|REF_RGD_ID:6218988
8789275	Tnf	tumor necrosis factor	gene	DOID:5082	liver cirrhosis		ISO	RGD:1344192	D	RGD:9068941	20250605	CTD		CTD Direct Evidence: marker/mechanism	PMID:38685136
8789275	Tnf	tumor necrosis factor	gene	DOID:5082	liver cirrhosis		ISO	RGD:3876	D	RGD:9068941	20240125	RGD		associated with chronic intermittent hypoxia; mRNA, protein:increased expression:liver (rat)	PMID:32626927|REF_RGD_ID:401959337
8789275	Tnf	tumor necrosis factor	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:19695831|REF_RGD_ID:14995448
8789275	Tnf	tumor necrosis factor	gene	DOID:5199	ureteral obstruction		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:19541932|REF_RGD_ID:7245519
8789275	Tnf	tumor necrosis factor	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:1768380|REF_RGD_ID:10449449
8789275	Tnf	tumor necrosis factor	gene	DOID:5327	retinal detachment		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:21402953|REF_RGD_ID:5131257
8789275	Tnf	tumor necrosis factor	gene	DOID:5327	retinal detachment	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:21402953|REF_RGD_ID:5131257
8789275	Tnf	tumor necrosis factor	gene	DOID:5419	schizophrenia		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:15927374|REF_RGD_ID:1580313
8789275	Tnf	tumor necrosis factor	gene	DOID:5419	schizophrenia		ISO	RGD:1344192	D	RGD:9068941	20260305	CTD		CTD Direct Evidence: marker/mechanism	PMID:16478754|PMID:39490508
8789275	Tnf	tumor necrosis factor	gene	DOID:5463	cochlear disease		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:29304389|REF_RGD_ID:13792837
8789275	Tnf	tumor necrosis factor	gene	DOID:551	toxic pneumonitis	treatment	ISO	RGD:2905|RGD:2906	D	RGD:9068941	20260718	RGD			PMID:31295064|REF_RGD_ID:736797807
8789275	Tnf	tumor necrosis factor	gene	DOID:551	toxic pneumonitis	treatment	ISO	RGD:620876|RGD:620596	D	RGD:9068941	20260718	RGD			PMID:31295064|REF_RGD_ID:736797807
8789275	Tnf	tumor necrosis factor	gene	DOID:552	pneumonia		ISO	RGD:1344192	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:21625544|PMID:28917655|PMID:34390737
8789275	Tnf	tumor necrosis factor	gene	DOID:552	pneumonia	treatment	ISO	RGD:11429	D	RGD:9068941	20260430	RGD			PMID:37446875|REF_RGD_ID:645122505
8789275	Tnf	tumor necrosis factor	gene	DOID:557	kidney disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Arthritis, Rheumatoid	PMID:14613268|REF_RGD_ID:10450570
8789275	Tnf	tumor necrosis factor	gene	DOID:5614	eye disease	disease_progression	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Thyroid Diseases;protein:increased expression:serum:	PMID:12186498|REF_RGD_ID:7387296
8789275	Tnf	tumor necrosis factor	gene	DOID:5679	retinal disease		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19324842
8789275	Tnf	tumor necrosis factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789275	Tnf	tumor necrosis factor	gene	DOID:5773	oral submucous fibrosis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16311067
8789275	Tnf	tumor necrosis factor	gene	DOID:5844	myocardial infarction		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15883752|PMID:16310260
8789275	Tnf	tumor necrosis factor	gene	DOID:5844	myocardial infarction		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:left ventricle myocardium, plasma	PMID:21362018|REF_RGD_ID:5130892
8789275	Tnf	tumor necrosis factor	gene	DOID:5844	myocardial infarction		ISO	RGD:3876	D	RGD:9068941	20251113	RGD			PMID:11399901|REF_RGD_ID:629006640
8789275	Tnf	tumor necrosis factor	gene	DOID:6000	congestive heart failure		ISO	RGD:11429	D	RGD:9068941	20240425	MouseDO			
8789275	Tnf	tumor necrosis factor	gene	DOID:6000	congestive heart failure		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15135663|PMID:15231041|PMID:17337591|PMID:18034274|PMID:29959987
8789275	Tnf	tumor necrosis factor	gene	DOID:6000	congestive heart failure		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:28939262|REF_RGD_ID:14975271
8789275	Tnf	tumor necrosis factor	gene	DOID:6000	congestive heart failure	severity	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:11100001|REF_RGD_ID:7401241
8789275	Tnf	tumor necrosis factor	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:15210453|REF_RGD_ID:1580213
8789275	Tnf	tumor necrosis factor	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD		associated with Myocardial Infarction;	PMID:11668085|REF_RGD_ID:7401242
8789275	Tnf	tumor necrosis factor	gene	DOID:614	lymphopenia		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with HIV Infections;protein:increased expression:serum	PMID:2324681|REF_RGD_ID:10450888
8789275	Tnf	tumor necrosis factor	gene	DOID:633	myositis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:muscle:	PMID:10399751|REF_RGD_ID:7401187
8789275	Tnf	tumor necrosis factor	gene	DOID:635	acquired immunodeficiency syndrome		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:8548330|REF_RGD_ID:12904035
8789275	Tnf	tumor necrosis factor	gene	DOID:6364	migraine		ISO	RGD:1344192	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Migraine with or without aura, susceptibility to, 1	PMID:25741868
8789275	Tnf	tumor necrosis factor	gene	DOID:6364	migraine	susceptibility	ISO	RGD:1344192	D	RGD:7240710	20260603	OMIM			
8789275	Tnf	tumor necrosis factor	gene	DOID:640	encephalomyelitis		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:9736027|REF_RGD_ID:12904033
8789275	Tnf	tumor necrosis factor	gene	DOID:6432	pulmonary hypertension		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:12391106|REF_RGD_ID:4143422
8789275	Tnf	tumor necrosis factor	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:2518282
8789275	Tnf	tumor necrosis factor	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Pulmonary Edema; protein:increased expression:Bronchoalveolar Lavage Fluid	PMID:9628235|REF_RGD_ID:4142833
8789275	Tnf	tumor necrosis factor	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with pulmonary disease, chronic obstructive; protein:increased expression:serum	PMID:16899829|REF_RGD_ID:4143280
8789275	Tnf	tumor necrosis factor	gene	DOID:6543	acne	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:c.-308 G>A (human)	PMID:18615253|REF_RGD_ID:7394817
8789275	Tnf	tumor necrosis factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27022031
8789275	Tnf	tumor necrosis factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:26890368|REF_RGD_ID:14975171
8789275	Tnf	tumor necrosis factor	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:11429	D	RGD:9068941	20210423	RGD		mRNA, protein:increased expression:liver, blood serum (mouse)	PMID:26569409|REF_RGD_ID:11344640
8789275	Tnf	tumor necrosis factor	gene	DOID:699	mitochondrial myopathy		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7979221
8789275	Tnf	tumor necrosis factor	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:11429	D	RGD:9068941	20220825	MouseDO		OMIM:180300	
8789275	Tnf	tumor necrosis factor	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1344192	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:12566094|PMID:2001072|PMID:22450443|PMID:34459104|PMID:8391952
8789275	Tnf	tumor necrosis factor	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1344192	D	RGD:9068941	20221117	RGD		mRNA:increased expression:synovial (human)	PMID:22660635|REF_RGD_ID:155663483
8789275	Tnf	tumor necrosis factor	gene	DOID:7148	rheumatoid arthritis	no_association	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-238G>A, -308G>A (human)	PMID:25311255|REF_RGD_ID:12904065
8789275	Tnf	tumor necrosis factor	gene	DOID:7148	rheumatoid arthritis	treatment	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:12563673|REF_RGD_ID:10450537
8789275	Tnf	tumor necrosis factor	gene	DOID:7148	rheumatoid arthritis	treatment	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-857C>T (human)	PMID:25311255|REF_RGD_ID:12904065
8789275	Tnf	tumor necrosis factor	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:17046971|REF_RGD_ID:4841878
8789275	Tnf	tumor necrosis factor	gene	DOID:7427	anthrax disease	disease_progression	ISO	RGD:11429	D	RGD:9068941	20201211	RGD		protein:decreased expression:multiple (mouse)	PMID:19075243|REF_RGD_ID:40902812
8789275	Tnf	tumor necrosis factor	gene	DOID:767	muscular atrophy		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24534773
8789275	Tnf	tumor necrosis factor	gene	DOID:769	neuroblastoma		ISO	RGD:1344192	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34626302
8789275	Tnf	tumor necrosis factor	gene	DOID:780	placenta disease		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16007645
8789275	Tnf	tumor necrosis factor	gene	DOID:783	end stage renal disease		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19539174
8789275	Tnf	tumor necrosis factor	gene	DOID:783	end stage renal disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma	PMID:22266663|REF_RGD_ID:7245510
8789275	Tnf	tumor necrosis factor	gene	DOID:813	septic arthritis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19203382
8789275	Tnf	tumor necrosis factor	gene	DOID:820	myocarditis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18627770|PMID:25396421
8789275	Tnf	tumor necrosis factor	gene	DOID:824	periodontitis	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:24586097|REF_RGD_ID:10450598
8789275	Tnf	tumor necrosis factor	gene	DOID:8283	peritonitis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:26601826|REF_RGD_ID:14975296
8789275	Tnf	tumor necrosis factor	gene	DOID:8283	peritonitis		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:20819637|REF_RGD_ID:4143378
8789275	Tnf	tumor necrosis factor	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:11429	D	RGD:9068941	20200609	RGD		protein:increased expression:Bronchoalveolar Lavage Fluid	PMID:10882225|REF_RGD_ID:4142832
8789275	Tnf	tumor necrosis factor	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:15653992|REF_RGD_ID:4143466
8789275	Tnf	tumor necrosis factor	gene	DOID:8463	corneal ulcer		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Arthritis,Rheumatoid;mRNA:increased expression:keratocyte:	PMID:12714388|REF_RGD_ID:7829721
8789275	Tnf	tumor necrosis factor	gene	DOID:8472	localized scleroderma		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9843018
8789275	Tnf	tumor necrosis factor	gene	DOID:8483	retinal artery occlusion		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:19421412|REF_RGD_ID:7829809
8789275	Tnf	tumor necrosis factor	gene	DOID:850	lung disease		ISO	RGD:11429	D	RGD:9068941	20200609	RGD		lung injury	PMID:12377989|REF_RGD_ID:4142809
8789275	Tnf	tumor necrosis factor	gene	DOID:850	lung disease		ISO	RGD:11429	D	RGD:9068941	20200609	RGD		lung injury; mRNA:increased expression:lung	PMID:12745880|REF_RGD_ID:4142805
8789275	Tnf	tumor necrosis factor	gene	DOID:850	lung disease		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11472967
8789275	Tnf	tumor necrosis factor	gene	DOID:850	lung disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with premature birth; protein:increased expression:lung	PMID:9462189|REF_RGD_ID:4143432
8789275	Tnf	tumor necrosis factor	gene	DOID:850	lung disease		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		acute lung injury; mRNA:increased expression:lung	PMID:15461830|REF_RGD_ID:4145512
8789275	Tnf	tumor necrosis factor	gene	DOID:850	lung disease		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		lung injury associated with pancreatitis; protein:increased expression:Bronchoalveolar Lavage Fluid	PMID:10455887|REF_RGD_ID:4143427
8789275	Tnf	tumor necrosis factor	gene	DOID:850	lung disease		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		ventilator-induced lung injury; protein:altered expression:lung:	PMID:11126266|REF_RGD_ID:4143425
8789275	Tnf	tumor necrosis factor	gene	DOID:8505	dermatitis herpetiformis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter	PMID:7914110|REF_RGD_ID:8548777
8789275	Tnf	tumor necrosis factor	gene	DOID:8515	Cor pulmonale		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20669672|REF_RGD_ID:4143386
8789275	Tnf	tumor necrosis factor	gene	DOID:8536	herpes zoster		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression::	PMID:21954956|REF_RGD_ID:8663478
8789275	Tnf	tumor necrosis factor	gene	DOID:8577	ulcerative colitis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19617644|PMID:20452301|PMID:22119283
8789275	Tnf	tumor necrosis factor	gene	DOID:8577	ulcerative colitis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:28120341|REF_RGD_ID:14975153
8789275	Tnf	tumor necrosis factor	gene	DOID:8577	ulcerative colitis		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:24812904|REF_RGD_ID:10450593
8789275	Tnf	tumor necrosis factor	gene	DOID:8577	ulcerative colitis	treatment	ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:25204186|REF_RGD_ID:10450577
8789275	Tnf	tumor necrosis factor	gene	DOID:863	nervous system disease		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:14999072
8789275	Tnf	tumor necrosis factor	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:intestine	PMID:19824106|REF_RGD_ID:4144091
8789275	Tnf	tumor necrosis factor	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:16269520|REF_RGD_ID:1580205
8789275	Tnf	tumor necrosis factor	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19824106|REF_RGD_ID:4144091
8789275	Tnf	tumor necrosis factor	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:3876	D	RGD:9068941	20211126	RGD		mRNA:increased expression:ileum (rat)	PMID:20501441|REF_RGD_ID:2324672
8789275	Tnf	tumor necrosis factor	gene	DOID:8680	alcoholic gastritis	treatment	ISO	RGD:3876	D	RGD:9068941	20250424	RGD			PMID:24972622|REF_RGD_ID:10401897
8789275	Tnf	tumor necrosis factor	gene	DOID:8725	vascular dementia	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-850C>T(human)	PMID:11273064|REF_RGD_ID:13825254
8789275	Tnf	tumor necrosis factor	gene	DOID:874	bacterial pneumonia	disease_progression	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:10650487|REF_RGD_ID:4143476
8789275	Tnf	tumor necrosis factor	gene	DOID:874	bacterial pneumonia	severity	ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:12958055|REF_RGD_ID:10449451
8789275	Tnf	tumor necrosis factor	gene	DOID:874	bacterial pneumonia	treatment	ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:9310939|REF_RGD_ID:10450564
8789275	Tnf	tumor necrosis factor	gene	DOID:874	bacterial pneumonia	treatment	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Agranulocytosis	PMID:7546648|REF_RGD_ID:10755357
8789275	Tnf	tumor necrosis factor	gene	DOID:8778	Crohn's disease		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10700533|PMID:21829567
8789275	Tnf	tumor necrosis factor	gene	DOID:8778	Crohn's disease		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:intestine mucosa	PMID:21359923|REF_RGD_ID:5130893
8789275	Tnf	tumor necrosis factor	gene	DOID:8778	Crohn's disease	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:22531889|REF_RGD_ID:8661753
8789275	Tnf	tumor necrosis factor	gene	DOID:8893	psoriasis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16844318|PMID:7744320
8789275	Tnf	tumor necrosis factor	gene	DOID:8893	psoriasis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:16821276|REF_RGD_ID:7401180
8789275	Tnf	tumor necrosis factor	gene	DOID:8893	psoriasis	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP: :-238G>A(rs361525)(human)	PMID:9326391|REF_RGD_ID:7394813
8789275	Tnf	tumor necrosis factor	gene	DOID:893	Wilson disease		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25002079
8789275	Tnf	tumor necrosis factor	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:22105495|REF_RGD_ID:7364856
8789275	Tnf	tumor necrosis factor	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, vitreous humour	PMID:16284605|REF_RGD_ID:7401212
8789275	Tnf	tumor necrosis factor	gene	DOID:8947	diabetic retinopathy	disease_progression	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1;protein:increased expression:platelet:	PMID:10540181|REF_RGD_ID:7394805
8789275	Tnf	tumor necrosis factor	gene	DOID:8947	diabetic retinopathy	no_association	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:polymorphism:promoter:-302A>G (human)	PMID:16979413|REF_RGD_ID:8548772
8789275	Tnf	tumor necrosis factor	gene	DOID:90	degenerative disc disease		ISO	RGD:1344192	D	RGD:9068941	20211210	CTD		CTD Direct Evidence: marker/mechanism	PMID:34600870
8789275	Tnf	tumor necrosis factor	gene	DOID:900	hepatopulmonary syndrome		ISO	RGD:3876	D	RGD:9068941	20260507	RGD		mRNA, protein:increased expression:lung	PMID:27879294|REF_RGD_ID:645244060
8789275	Tnf	tumor necrosis factor	gene	DOID:900	hepatopulmonary syndrome	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:26236934|REF_RGD_ID:14696802
8789275	Tnf	tumor necrosis factor	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:20633123|REF_RGD_ID:5131936
8789275	Tnf	tumor necrosis factor	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:3876	D	RGD:9068941	20220623	RGD			PMID:21296062|PMID:29572553|REF_RGD_ID:152995414|REF_RGD_ID:8661763
8789275	Tnf	tumor necrosis factor	gene	DOID:9000113	Pneumococcal Meningitis		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:25443778|REF_RGD_ID:9831197
8789275	Tnf	tumor necrosis factor	gene	DOID:9000113	Pneumococcal Meningitis	disease_progression	ISO	RGD:3876	D	RGD:9068941	20210219	RGD		mRNA:increased expression:brain (rat)	PMID:31933824|REF_RGD_ID:40903068
8789275	Tnf	tumor necrosis factor	gene	DOID:9000146	Plaque, Atherosclerotic	ameliorates	ISO	RGD:11429	D	RGD:9068941	20230831	RGD			PMID:28062499|REF_RGD_ID:329955458
8789275	Tnf	tumor necrosis factor	gene	DOID:9000197	Edema		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19874808
8789275	Tnf	tumor necrosis factor	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15201584|PMID:1733439
8789275	Tnf	tumor necrosis factor	gene	DOID:9000220	Coxsackievirus Infections		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25396421
8789275	Tnf	tumor necrosis factor	gene	DOID:9000288	Chronic Intermittent Hypoxia		ISO	RGD:3876	D	RGD:9068941	20240125	RGD		mRNA, protein:increased expression:liver (rat)	PMID:32626927|REF_RGD_ID:401959337
8789275	Tnf	tumor necrosis factor	gene	DOID:9000300	Refractory Anemia		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10870480
8789275	Tnf	tumor necrosis factor	gene	DOID:9000304	Manganese Poisoning		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18041089
8789275	Tnf	tumor necrosis factor	gene	DOID:9000310	Lung Injury		ISO	RGD:1344192	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:2518282|PMID:26243812|PMID:34255241
8789275	Tnf	tumor necrosis factor	gene	DOID:9000310	Lung Injury	ameliorates	ISO	RGD:3876	D	RGD:9068941	20241031	RGD		associated with Intestinal Reperfusion Injury;	PMID:17786556|REF_RGD_ID:408346753
8789275	Tnf	tumor necrosis factor	gene	DOID:9000352	Vascular System Injuries		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19234301
8789275	Tnf	tumor necrosis factor	gene	DOID:9000406	Eosinophilic Asthma		ISO	RGD:1344192	D	RGD:9068941	20260226	RGD		protein:increased expression:blood serum	PMID:34825300|REF_RGD_ID:632518367
8789275	Tnf	tumor necrosis factor	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27157545
8789275	Tnf	tumor necrosis factor	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:19719951|REF_RGD_ID:4144093
8789275	Tnf	tumor necrosis factor	gene	DOID:9000540	HIV Wasting Syndrome		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7979221
8789275	Tnf	tumor necrosis factor	gene	DOID:9000641	Pain		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18582539|PMID:20383154
8789275	Tnf	tumor necrosis factor	gene	DOID:9000656	Penetrating Wounds		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:26101070|REF_RGD_ID:11049529
8789275	Tnf	tumor necrosis factor	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with asthma; DNA:polymorphism:promoter: c. -308A>G (human)	PMID:17196641|REF_RGD_ID:4144784
8789275	Tnf	tumor necrosis factor	gene	DOID:9000784	Fibrosis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18034274
8789275	Tnf	tumor necrosis factor	gene	DOID:9000855	Experimental Radiation Injuries		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11121210
8789275	Tnf	tumor necrosis factor	gene	DOID:9000918	Disease Progression		ISO	RGD:1344192	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34626302
8789275	Tnf	tumor necrosis factor	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:26270535|REF_RGD_ID:11049527
8789275	Tnf	tumor necrosis factor	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:3876	D	RGD:9068941	20230720	RGD		associated with periodontal disease	PMID:33364953|REF_RGD_ID:329956421
8789275	Tnf	tumor necrosis factor	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23431386|PMID:8032535
8789275	Tnf	tumor necrosis factor	gene	DOID:9000972	Fever		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10379864|PMID:11852909|PMID:15384034
8789275	Tnf	tumor necrosis factor	gene	DOID:9000998	Brain Injuries		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19800810|PMID:21549006
8789275	Tnf	tumor necrosis factor	gene	DOID:9000998	Brain Injuries		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:10674461|REF_RGD_ID:13825262
8789275	Tnf	tumor necrosis factor	gene	DOID:9001109	Anorexia		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25392278
8789275	Tnf	tumor necrosis factor	gene	DOID:9001131	stress-related disorder	sexual_dimorphism	ISO	RGD:3876	D	RGD:9068941	20241212	RGD		associated with male; mRNA, protein:increased expression:nucleus accumbens, prefrontal cortex (rat)	PMID:30654007|REF_RGD_ID:596933070
8789275	Tnf	tumor necrosis factor	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:3876	D	RGD:9068941	20250327	RGD		mRNA:increased expression:visceral adipose	PMID:29089335|REF_RGD_ID:21410183
8789275	Tnf	tumor necrosis factor	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal root ganglion:	PMID:19543754|REF_RGD_ID:7394752
8789275	Tnf	tumor necrosis factor	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus accumbens	PMID:24845379|REF_RGD_ID:10450588
8789275	Tnf	tumor necrosis factor	gene	DOID:9001365	Amebic Liver Abscess	treatment	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:10862314|REF_RGD_ID:14928216
8789275	Tnf	tumor necrosis factor	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:	PMID:17638785|REF_RGD_ID:4142855
8789275	Tnf	tumor necrosis factor	gene	DOID:9001488	Human Influenza		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21062445|REF_RGD_ID:5128683
8789275	Tnf	tumor necrosis factor	gene	DOID:9001542	Albuminuria		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17167242
8789275	Tnf	tumor necrosis factor	gene	DOID:9001553	Spinal Cord Compression		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15135227
8789275	Tnf	tumor necrosis factor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:11429	D	RGD:9068941	20201023	RGD		mRNA:increased expression:liver (mouse)	PMID:28465467|REF_RGD_ID:39939037
8789275	Tnf	tumor necrosis factor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16085334
8789275	Tnf	tumor necrosis factor	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:24383550|REF_RGD_ID:10450610
8789275	Tnf	tumor necrosis factor	gene	DOID:9001579	Neurogenic Inflammation		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21570423
8789275	Tnf	tumor necrosis factor	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28100771
8789275	Tnf	tumor necrosis factor	gene	DOID:9001586	Experimental Liver Neoplasms	disease_progression	ISO	RGD:11429	D	RGD:9068941	20210423	RGD		protein:increased expression:blood serum (mouse)	PMID:26569409|REF_RGD_ID:11344640
8789275	Tnf	tumor necrosis factor	gene	DOID:9001586	Experimental Liver Neoplasms	treatment	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		Morris hepatoma	PMID:9063767|REF_RGD_ID:14696818
8789275	Tnf	tumor necrosis factor	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21192278
8789275	Tnf	tumor necrosis factor	gene	DOID:9001650	Pregnancy-Induced Hypertension	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:18981324|REF_RGD_ID:13825265
8789275	Tnf	tumor necrosis factor	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20981132
8789275	Tnf	tumor necrosis factor	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1344192	D	RGD:9068941	20220922	RGD		protein:increased expression:blood serum (human)	PMID:32178736|REF_RGD_ID:155230830
8789275	Tnf	tumor necrosis factor	gene	DOID:9001686	Acute Coronary Syndrome	treatment	ISO	RGD:3876	D	RGD:9068941	20220922	RGD			PMID:32178736|REF_RGD_ID:155230830
8789275	Tnf	tumor necrosis factor	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21192278
8789275	Tnf	tumor necrosis factor	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:3876	D	RGD:9068941	20250424	RGD		associated with Alcoholic Intoxication; protein:increased expression:serum	PMID:24163503|REF_RGD_ID:598148159
8789275	Tnf	tumor necrosis factor	gene	DOID:9001708	Hemorrhagic Shock	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:24315526|REF_RGD_ID:10450602
8789275	Tnf	tumor necrosis factor	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:retina:	PMID:18660426|REF_RGD_ID:7387281
8789275	Tnf	tumor necrosis factor	gene	DOID:9001733	Tinnitus		ISO	RGD:3876	D	RGD:9068941	20231230	RGD		mRNA, protein:increased expression:Cochlear Nucleus	PMID:24092407|REF_RGD_ID:401940125
8789275	Tnf	tumor necrosis factor	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:9032201|REF_RGD_ID:4143479
8789275	Tnf	tumor necrosis factor	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:11429	D	RGD:9068941	20200609	RGD		associated with influenza;protein:increased expression:lung	PMID:17348295|REF_RGD_ID:4145366
8789275	Tnf	tumor necrosis factor	gene	DOID:9002153	Chronic Allograft Dysfunction	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:24598936|REF_RGD_ID:10450586
8789275	Tnf	tumor necrosis factor	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (rat)	PMID:10454827|PMID:17164725|REF_RGD_ID:14696803|REF_RGD_ID:14985258
8789275	Tnf	tumor necrosis factor	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:11429	D	RGD:9068941	20220930	RGD			PMID:32155285|REF_RGD_ID:155260323
8789275	Tnf	tumor necrosis factor	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:3876	D	RGD:9068941	20241024	RGD			PMID:11129814|PMID:11592783|PMID:12131680|PMID:15457564|PMID:19357028|PMID:21125813|PMID:24726586|REF_RGD_ID:10450597|REF_RGD_ID:14985257|REF_RGD_ID:14995447|REF_RGD_ID:14995454|REF_RGD_ID:14995473|REF_RGD_ID:15039406|REF_RGD_ID:2325259
8789275	Tnf	tumor necrosis factor	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:3876	D	RGD:9068941	20250424	RGD		associated with alcoholic hepatitis	PMID:22019745|REF_RGD_ID:598147059
8789275	Tnf	tumor necrosis factor	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:3876	D	RGD:9068941	20250424	RGD		associated with steatotic liver disease	PMID:31483550|REF_RGD_ID:598147058
8789275	Tnf	tumor necrosis factor	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:16141456|REF_RGD_ID:1580311
8789275	Tnf	tumor necrosis factor	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:16336586|REF_RGD_ID:1580208
8789275	Tnf	tumor necrosis factor	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:12969138|REF_RGD_ID:1580296
8789275	Tnf	tumor necrosis factor	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased expression:urine	PMID:21441310|REF_RGD_ID:5135032
8789275	Tnf	tumor necrosis factor	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12627504|PMID:1674182|PMID:3361654
8789275	Tnf	tumor necrosis factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:10825476|PMID:18790011|REF_RGD_ID:7394737|REF_RGD_ID:7394741
8789275	Tnf	tumor necrosis factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:11429	D	RGD:9068941	20200609	RGD		associated with Diabetic Neuropathies;	PMID:21104419|REF_RGD_ID:7401179
8789275	Tnf	tumor necrosis factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:11429	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:spinal cord:	PMID:18790011|REF_RGD_ID:7394737
8789275	Tnf	tumor necrosis factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10401557|PMID:12727271|PMID:16472913|PMID:17320857|PMID:18463260|PMID:18582539|PMID:20383154|PMID:26141506|PMID:27093858|PMID:7582491|PMID:7881729
8789275	Tnf	tumor necrosis factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:16675114|PMID:17304130|PMID:17459378|REF_RGD_ID:7387300|REF_RGD_ID:7387302|REF_RGD_ID:7394757
8789275	Tnf	tumor necrosis factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:lumbar vertebra:	PMID:16675114|REF_RGD_ID:7387300
8789275	Tnf	tumor necrosis factor	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	disease_progression	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:22945689|REF_RGD_ID:11041895
8789275	Tnf	tumor necrosis factor	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	disease_progression	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:bone marrow, blood, lymphocyte	PMID:12010662|REF_RGD_ID:10449463
8789275	Tnf	tumor necrosis factor	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:1344192	D	RGD:9068941	20200910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29959987|PMID:32068018
8789275	Tnf	tumor necrosis factor	gene	DOID:9002395	Hypothermia		ISO	RGD:1344192	D	RGD:9068941	20220707	CTD		CTD Direct Evidence: marker/mechanism	PMID:16369138|PMID:34942311
8789275	Tnf	tumor necrosis factor	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19203382|PMID:19330884|PMID:19765281|PMID:20131233|PMID:20974942|PMID:21452922|PMID:22450443|PMID:7589090|PMID:9598899
8789275	Tnf	tumor necrosis factor	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:24394943|REF_RGD_ID:10450611
8789275	Tnf	tumor necrosis factor	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:19169271|REF_RGD_ID:8662976
8789275	Tnf	tumor necrosis factor	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:21690068|PMID:23052485|PMID:23140046|PMID:24028507|PMID:29408684|REF_RGD_ID:10755447|REF_RGD_ID:13792834|REF_RGD_ID:7193038|REF_RGD_ID:7245941|REF_RGD_ID:8661761
8789275	Tnf	tumor necrosis factor	gene	DOID:9002549	Shock	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:2040364|PMID:7537468|REF_RGD_ID:10450572|REF_RGD_ID:10450732
8789275	Tnf	tumor necrosis factor	gene	DOID:9002554	Tachycardia		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10379864
8789275	Tnf	tumor necrosis factor	gene	DOID:9002676	Cerebral Hemorrhage	ameliorates	ISO	RGD:3876	D	RGD:9068941	20230504	RGD			PMID:31376096|REF_RGD_ID:329337378
8789275	Tnf	tumor necrosis factor	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:11421579|REF_RGD_ID:12904661
8789275	Tnf	tumor necrosis factor	gene	DOID:9002884	Emphysema		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:15805183|REF_RGD_ID:4143415
8789275	Tnf	tumor necrosis factor	gene	DOID:9002906	Multiple Organ Failure		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10890648|PMID:9696492
8789275	Tnf	tumor necrosis factor	gene	DOID:9002909	Oxygen-Induced Retinopathy		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:15681845|PMID:19342600|REF_RGD_ID:7394795|REF_RGD_ID:7394799
8789275	Tnf	tumor necrosis factor	gene	DOID:9002909	Oxygen-Induced Retinopathy	ameliorates	ISO	RGD:11429	D	RGD:9068941	20230525	RGD			PMID:35445044|REF_RGD_ID:329812014
8789275	Tnf	tumor necrosis factor	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cochlea:	PMID:19051071|REF_RGD_ID:7394705
8789275	Tnf	tumor necrosis factor	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:12842827|PMID:19028472
8789275	Tnf	tumor necrosis factor	gene	DOID:9002953	Escherichia Coli Infections		ISO	RGD:3876	D	RGD:9068941	20200820	RGD		protein:increased expression:serum (rat)	PMID:9466473|REF_RGD_ID:38508904
8789275	Tnf	tumor necrosis factor	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15153526|PMID:22921461|PMID:9710261
8789275	Tnf	tumor necrosis factor	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:16322490|REF_RGD_ID:1580310
8789275	Tnf	tumor necrosis factor	gene	DOID:9003291	Aggressive Fibromatosis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19944662
8789275	Tnf	tumor necrosis factor	gene	DOID:9003369	Strongylida Infections		ISO	RGD:1344192	D	RGD:9068941	20260226	RGD		associated with tuberculosis, protein:decreased expression:blood plasma	PMID:26542223|REF_RGD_ID:632518403
8789275	Tnf	tumor necrosis factor	gene	DOID:9003470	Picornaviridae Infections		ISO	RGD:11429	D	RGD:9068941	20200609	RGD		associated with Pulmonary Disease, Chronic Obstructive;mRNA,protein:increased expression:lung	PMID:19748999|REF_RGD_ID:4145626
8789275	Tnf	tumor necrosis factor	gene	DOID:9003505	Venous Thromboembolism		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22473048
8789275	Tnf	tumor necrosis factor	gene	DOID:9003507	Premature Birth		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27748297
8789275	Tnf	tumor necrosis factor	gene	DOID:9003817	Sudden Hearing Loss		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:11189185|REF_RGD_ID:7394753
8789275	Tnf	tumor necrosis factor	gene	DOID:9003819	Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis	severity	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19690440|REF_RGD_ID:7245518
8789275	Tnf	tumor necrosis factor	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15302781|PMID:17337591|PMID:18034274
8789275	Tnf	tumor necrosis factor	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10706834|PMID:12024109|PMID:15829914|PMID:16971220|PMID:17112405|PMID:18460982|PMID:19058328|PMID:23743330|PMID:23875703|PMID:24898700
8789275	Tnf	tumor necrosis factor	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:9047083|REF_RGD_ID:14995307
8789275	Tnf	tumor necrosis factor	gene	DOID:9004017	Chronic Hepatitis C	severity	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (human)	PMID:9440625|REF_RGD_ID:14995439
8789275	Tnf	tumor necrosis factor	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:1344192	D	RGD:9068941	20200813	RGD			PMID:25708446|REF_RGD_ID:38456002
8789275	Tnf	tumor necrosis factor	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:8094579|REF_RGD_ID:7401188
8789275	Tnf	tumor necrosis factor	gene	DOID:9004283	Transplant Rejection		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:2038191|REF_RGD_ID:7394793
8789275	Tnf	tumor necrosis factor	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:2338821|REF_RGD_ID:8548836
8789275	Tnf	tumor necrosis factor	gene	DOID:9004484	Sepsis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15489642|PMID:8741040|PMID:9806674
8789275	Tnf	tumor necrosis factor	gene	DOID:9004484	Sepsis		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:15665729|REF_RGD_ID:5147745
8789275	Tnf	tumor necrosis factor	gene	DOID:9004484	Sepsis		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:19695174|REF_RGD_ID:4144094
8789275	Tnf	tumor necrosis factor	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:27488951|REF_RGD_ID:14975262
8789275	Tnf	tumor necrosis factor	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:24055021|REF_RGD_ID:7364867
8789275	Tnf	tumor necrosis factor	gene	DOID:9004501	Meningeal Tuberculosis		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:10318940|REF_RGD_ID:10449456
8789275	Tnf	tumor necrosis factor	gene	DOID:9004531	Cardiovirus Infections		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10609881
8789275	Tnf	tumor necrosis factor	gene	DOID:9004538	Hearing Loss		ISO	RGD:11429	D	RGD:9068941	20200609	RGD		associated with Cytomegalovirus Infections;protein:increased expression:scala tympani:	PMID:22001951|REF_RGD_ID:7394702
8789275	Tnf	tumor necrosis factor	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26037280
8789275	Tnf	tumor necrosis factor	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22199285|PMID:23431386|PMID:23899529|PMID:24613819
8789275	Tnf	tumor necrosis factor	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19505222
8789275	Tnf	tumor necrosis factor	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:18070011|REF_RGD_ID:4144156
8789275	Tnf	tumor necrosis factor	gene	DOID:9004590	Acute Liver Failure	severity	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:10979906|REF_RGD_ID:14995442
8789275	Tnf	tumor necrosis factor	gene	DOID:9004590	Acute Liver Failure	treatment	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:18946736|REF_RGD_ID:14700674
8789275	Tnf	tumor necrosis factor	gene	DOID:9004590	Acute Liver Failure	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:12960499|REF_RGD_ID:10450538
8789275	Tnf	tumor necrosis factor	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-308G>A (rs1800629) (human)	PMID:30412745|REF_RGD_ID:14975158
8789275	Tnf	tumor necrosis factor	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1344192	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:34390737
8789275	Tnf	tumor necrosis factor	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:21767135|REF_RGD_ID:6480432
8789275	Tnf	tumor necrosis factor	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:19106808|REF_RGD_ID:5147925
8789275	Tnf	tumor necrosis factor	gene	DOID:9004610	Acute Lung Injury	no_association	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:rs1799964 (human)	PMID:30412745|REF_RGD_ID:14975158
8789275	Tnf	tumor necrosis factor	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD		associated with Liver Reperfusion Injury	PMID:11129814|REF_RGD_ID:14995473
8789275	Tnf	tumor necrosis factor	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:3876	D	RGD:9068941	20260219	RGD			PMID:31693211|REF_RGD_ID:632522751
8789275	Tnf	tumor necrosis factor	gene	DOID:9004649	Heat Stroke		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16878031|PMID:24039931
8789275	Tnf	tumor necrosis factor	gene	DOID:9004657	Weight Gain		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20521320
8789275	Tnf	tumor necrosis factor	gene	DOID:9004751	Nausea		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10379864
8789275	Tnf	tumor necrosis factor	gene	DOID:9004786	Carbon Tetrachloride Poisoning	treatment	ISO	RGD:3876	D	RGD:9068941	20250417	RGD			PMID:26081032|REF_RGD_ID:598130074
8789275	Tnf	tumor necrosis factor	gene	DOID:9004914	Postmenopausal Osteoporosis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9032749
8789275	Tnf	tumor necrosis factor	gene	DOID:9004932	Eales Disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:19585364|REF_RGD_ID:7401211
8789275	Tnf	tumor necrosis factor	gene	DOID:9004932	Eales Disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype:promoter	PMID:20720222|REF_RGD_ID:7364860
8789275	Tnf	tumor necrosis factor	gene	DOID:9004932	Eales Disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous fluid:	PMID:21394064|REF_RGD_ID:7387275
8789275	Tnf	tumor necrosis factor	gene	DOID:9004932	Eales Disease	disease_progression	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:21849807|REF_RGD_ID:7394772
8789275	Tnf	tumor necrosis factor	gene	DOID:9004932	Eales Disease	severity	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:21139707|REF_RGD_ID:7387277
8789275	Tnf	tumor necrosis factor	gene	DOID:9004965	opiate withdrawal syndrome	treatment	ISO	RGD:3876	D	RGD:9068941	20250417	RGD			PMID:37112606|REF_RGD_ID:598130076
8789275	Tnf	tumor necrosis factor	gene	DOID:9004974	Painful Neuropathy		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:10825476|PMID:18394803|REF_RGD_ID:7394739|REF_RGD_ID:7394741
8789275	Tnf	tumor necrosis factor	gene	DOID:9004974	Painful Neuropathy		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:Schwann cell	PMID:11376190|REF_RGD_ID:7394735
8789275	Tnf	tumor necrosis factor	gene	DOID:9004974	Painful Neuropathy		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:9514564|REF_RGD_ID:7394740
8789275	Tnf	tumor necrosis factor	gene	DOID:9005020	Brain Contusion	treatment	ISO	RGD:3876	D	RGD:9068941	20241116	RGD			PMID:31654641|REF_RGD_ID:408418727
8789275	Tnf	tumor necrosis factor	gene	DOID:9005149	Ovary Reperfusion Injury	treatment	ISO	RGD:3876	D	RGD:9068941	20260718	RGD			PMID:38453769|REF_RGD_ID:736797808
8789275	Tnf	tumor necrosis factor	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14587096|PMID:22369883
8789275	Tnf	tumor necrosis factor	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:19755514|REF_RGD_ID:7401185
8789275	Tnf	tumor necrosis factor	gene	DOID:9005236	Drug Eruptions		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31150805
8789275	Tnf	tumor necrosis factor	gene	DOID:9005254	Systemic Candidiasis		ISO	RGD:11429	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:spleen, plasma	PMID:11562071|REF_RGD_ID:10449457
8789275	Tnf	tumor necrosis factor	gene	DOID:9005269	Stable Angina		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20981132
8789275	Tnf	tumor necrosis factor	gene	DOID:9005372	Inflammation		ISO	RGD:1344192	D	RGD:9068941	20220707	CTD		CTD Direct Evidence: marker/mechanism	PMID:11181422|PMID:12843254|PMID:14970111|PMID:16001271|PMID:16227999|PMID:19324842|PMID:19803787|PMID:20167660|PMID:20943792|PMID:21146893|PMID:21467745|PMID:22452660|PMID:23348408|PMID:23371441|PMID:23795810|PMID:34942311
8789275	Tnf	tumor necrosis factor	gene	DOID:9005372	Inflammation	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:25706245|PMID:26069367|REF_RGD_ID:11059519|REF_RGD_ID:11059520
8789275	Tnf	tumor necrosis factor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12123627|PMID:12193562|PMID:19478208|PMID:20388520|PMID:22138235|PMID:24513509
8789275	Tnf	tumor necrosis factor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:heart	PMID:20555424|REF_RGD_ID:4142788
8789275	Tnf	tumor necrosis factor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:21481476|REF_RGD_ID:5131250
8789275	Tnf	tumor necrosis factor	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:19220660|PMID:24374093|REF_RGD_ID:10450575|REF_RGD_ID:2312478
8789275	Tnf	tumor necrosis factor	gene	DOID:9005724	Fungal Lung Diseases		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:16544260|REF_RGD_ID:4145506
8789275	Tnf	tumor necrosis factor	gene	DOID:9005749	Necrosis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10631206|PMID:10909967|PMID:22345571|PMID:24548419
8789275	Tnf	tumor necrosis factor	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:11429	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:tongue:	PMID:14747060|REF_RGD_ID:7401243
8789275	Tnf	tumor necrosis factor	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:saliva	PMID:21397550|REF_RGD_ID:7401244
8789275	Tnf	tumor necrosis factor	gene	DOID:9005882	Spine Osteoarthritis		ISO	RGD:1344192	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34697729
8789275	Tnf	tumor necrosis factor	gene	DOID:9005883	Pleural Effusion		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:2518282
8789275	Tnf	tumor necrosis factor	gene	DOID:9005930	Endotoxemia		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:20519137|PMID:21396682|REF_RGD_ID:5147765|REF_RGD_ID:5147779
8789275	Tnf	tumor necrosis factor	gene	DOID:9005930	Endotoxemia		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:17324147|REF_RGD_ID:4891465
8789275	Tnf	tumor necrosis factor	gene	DOID:9005930	Endotoxemia		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:8283134|REF_RGD_ID:14995443
8789275	Tnf	tumor necrosis factor	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:11429	D	RGD:9068941	20210312	RGD		XCO:0000822 JTE-607	PMID:10493164|REF_RGD_ID:40903016
8789275	Tnf	tumor necrosis factor	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:12813371|PMID:18078960|REF_RGD_ID:14995427|REF_RGD_ID:15023464
8789275	Tnf	tumor necrosis factor	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:3876	D	RGD:9068941	20200820	RGD		associated with liver cirrhosis	PMID:15242491|REF_RGD_ID:38501090
8789275	Tnf	tumor necrosis factor	gene	DOID:9005941	Rhinosinusitis		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:20147558|REF_RGD_ID:7401236
8789275	Tnf	tumor necrosis factor	gene	DOID:9005941	Rhinosinusitis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal cavity epithelium	PMID:11197112|REF_RGD_ID:7401169
8789275	Tnf	tumor necrosis factor	gene	DOID:9005968	Neuralgia		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20846523
8789275	Tnf	tumor necrosis factor	gene	DOID:9006024	Hypotension		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10379864|PMID:15384034
8789275	Tnf	tumor necrosis factor	gene	DOID:9006081	Osteolysis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15878362
8789275	Tnf	tumor necrosis factor	gene	DOID:9006086	Intervertebral Disc Displacement		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:24826482|REF_RGD_ID:10450584
8789275	Tnf	tumor necrosis factor	gene	DOID:9006102	Right Ventricular Hypertrophy	treatment	ISO	RGD:3876	D	RGD:9068941	20230803	RGD		associated with Pulmonary Arterial Hypertension	PMID:26959484|REF_RGD_ID:329969898
8789275	Tnf	tumor necrosis factor	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
8789275	Tnf	tumor necrosis factor	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19925291|REF_RGD_ID:2315112
8789275	Tnf	tumor necrosis factor	gene	DOID:9006223	Kidney Reperfusion Injury	ameliorates	ISO	RGD:11429	D	RGD:9068941	20230601	RGD			PMID:24920753|REF_RGD_ID:329845564
8789275	Tnf	tumor necrosis factor	gene	DOID:9006262	Cytomegalovirus Infections		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:7815559|REF_RGD_ID:12904072
8789275	Tnf	tumor necrosis factor	gene	DOID:9006281	Temporomandibular Joint Disorders	severity	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with connective tissue diseases;	PMID:10800908|REF_RGD_ID:7401181
8789275	Tnf	tumor necrosis factor	gene	DOID:9006302	Binge Drinking		ISO	RGD:3876	D	RGD:9068941	20250130	RGD		mRNA:increased expression:frontal cortex	PMID:23867237|REF_RGD_ID:597538460
8789275	Tnf	tumor necrosis factor	gene	DOID:9006302	Binge Drinking		ISO	RGD:3876	D	RGD:9068941	20250322	RGD		protein:increased expression:hypothalamic microglia	PMID:30737481|REF_RGD_ID:598092506
8789275	Tnf	tumor necrosis factor	gene	DOID:9006302	Binge Drinking		ISO	RGD:3876	D	RGD:9068941	20250327	RGD		mRNA:decreased expression:amygdala,prefrontal cortex, PVN, hippocampus	PMID:29458194|REF_RGD_ID:598092572
8789275	Tnf	tumor necrosis factor	gene	DOID:9006358	Postoperative Cognitive Dysfunction		ISO	RGD:3876	D	RGD:9068941	20240208	RGD		protein:increased expression:hippocampus (rat)	PMID:33390808|REF_RGD_ID:401965467
8789275	Tnf	tumor necrosis factor	gene	DOID:9006358	Postoperative Cognitive Dysfunction		ISO	RGD:3876	D	RGD:9068941	20250213	RGD		mRNA, protein:increased expression:hippocampus	PMID:23078219|REF_RGD_ID:597805826
8789275	Tnf	tumor necrosis factor	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:3876	D	RGD:9068941	20240118	RGD			PMID:29571823|REF_RGD_ID:401959211
8789275	Tnf	tumor necrosis factor	gene	DOID:9006388	Vulvar Vestibulitis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:vagina	PMID:9015038|REF_RGD_ID:7394738
8789275	Tnf	tumor necrosis factor	gene	DOID:9006646	Metabolic Syndrome	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:24441717|REF_RGD_ID:10450604
8789275	Tnf	tumor necrosis factor	gene	DOID:9006647	Experimental Autoimmune Neuritis	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:18400050|REF_RGD_ID:7401218
8789275	Tnf	tumor necrosis factor	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:1344192	D	RGD:9068941	20211015	CTD		CTD Direct Evidence: marker/mechanism	PMID:33961948
8789275	Tnf	tumor necrosis factor	gene	DOID:9006709	Primary Graft Dysfunction	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD		liver	PMID:18972563|REF_RGD_ID:15023490
8789275	Tnf	tumor necrosis factor	gene	DOID:9006741	Acute Hepatitis	disease_progression	ISO	RGD:11429	D	RGD:9068941	20210423	RGD		protein:increased expression:blood serum (mouse)	PMID:26569409|REF_RGD_ID:11344640
8789275	Tnf	tumor necrosis factor	gene	DOID:9006741	Acute Hepatitis	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:15476865|REF_RGD_ID:14688052
8789275	Tnf	tumor necrosis factor	gene	DOID:9006771	Chronic Rhinosinusitis		ISO	RGD:1344192	D	RGD:9068941	20251106	RGD		mRNA:increased expression:nasal cavity mucosa	PMID:33115854|REF_RGD_ID:629006538
8789275	Tnf	tumor necrosis factor	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1344192	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:31557154
8789275	Tnf	tumor necrosis factor	gene	DOID:9006827	Lung Reperfusion Injury		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:17294835|REF_RGD_ID:4143397
8789275	Tnf	tumor necrosis factor	gene	DOID:9006827	Lung Reperfusion Injury	ameliorates	ISO	RGD:11429	D	RGD:9068941	20220915	RGD			PMID:34238924|REF_RGD_ID:153350155
8789275	Tnf	tumor necrosis factor	gene	DOID:9006844	Streptococcal Infections		IEP		D	RGD:11554174|PMID:8302123	20161020	RGD		associated with Otitis Media	
8789275	Tnf	tumor necrosis factor	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal lavage fluid	PMID:20088864|REF_RGD_ID:4143440
8789275	Tnf	tumor necrosis factor	gene	DOID:9006928	Viral Bronchiolitis	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1799724(human)	PMID:17703412|REF_RGD_ID:4889847
8789275	Tnf	tumor necrosis factor	gene	DOID:9006928	Viral Bronchiolitis	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter: c. -308A>G (human)	PMID:19849941|REF_RGD_ID:4143441
8789275	Tnf	tumor necrosis factor	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17909696
8789275	Tnf	tumor necrosis factor	gene	DOID:9007039	Ventricular Dysfunction		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20626112
8789275	Tnf	tumor necrosis factor	gene	DOID:9007073	Cough		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum	PMID:10325899|REF_RGD_ID:4143478
8789275	Tnf	tumor necrosis factor	gene	DOID:9007090	Experimental Seizures		ISO	RGD:1344192	D	RGD:9068941	20241212	RGD			PMID:23333565|REF_RGD_ID:7245573
8789275	Tnf	tumor necrosis factor	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533|PMID:16775501
8789275	Tnf	tumor necrosis factor	gene	DOID:9007153	Pediatric Crohn's Disease		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:11321389|REF_RGD_ID:7394742
8789275	Tnf	tumor necrosis factor	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24183702
8789275	Tnf	tumor necrosis factor	gene	DOID:9007346	Cachexia		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17878525
8789275	Tnf	tumor necrosis factor	gene	DOID:9007346	Cachexia		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		associated with hepatocellular carcinoma;mRNA:altered expression:skeletal muscle tissue, adipose tissue (rat)	PMID:16077938|REF_RGD_ID:1624190
8789275	Tnf	tumor necrosis factor	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1344192	D	RGD:9068941	20240111	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:17709330|PMID:19638433|PMID:20623750|PMID:21984482|PMID:37866487|PMID:7532385|PMID:9696492
8789275	Tnf	tumor necrosis factor	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (rat)	PMID:11124822|PMID:17070847|REF_RGD_ID:14696804|REF_RGD_ID:14995429
8789275	Tnf	tumor necrosis factor	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	severity	ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:10801288|REF_RGD_ID:14995437
8789275	Tnf	tumor necrosis factor	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:10801287|PMID:29091898|PMID:31077717|REF_RGD_ID:14975281|REF_RGD_ID:14995435|REF_RGD_ID:15090820
8789275	Tnf	tumor necrosis factor	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:3876	D	RGD:9068941	20250329	RGD			PMID:14686721|PMID:15830285|PMID:29091898|PMID:30926569|PMID:31342809|PMID:9309314|REF_RGD_ID:10450531|REF_RGD_ID:14995432|REF_RGD_ID:14995485|REF_RGD_ID:15036799|REF_RGD_ID:15090820|REF_RGD_ID:598092600
8789275	Tnf	tumor necrosis factor	gene	DOID:9007417	Pseudomonas Infections	treatment	ISO	RGD:11429	D	RGD:9068941	20200702	RGD			PMID:27175332|PMID:8168971|REF_RGD_ID:10450561|REF_RGD_ID:32733623
8789275	Tnf	tumor necrosis factor	gene	DOID:9007417	Pseudomonas Infections	treatment	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Agranulocytosis	PMID:7923933|REF_RGD_ID:10450534
8789275	Tnf	tumor necrosis factor	gene	DOID:9007429	Soft Tissue Neoplasms		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16767912|PMID:17203757
8789275	Tnf	tumor necrosis factor	gene	DOID:9007480	Hyperoxia		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:8679214|REF_RGD_ID:10449454
8789275	Tnf	tumor necrosis factor	gene	DOID:9007558	Acute Experimental Pancreatitis		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:15164724|REF_RGD_ID:1580295
8789275	Tnf	tumor necrosis factor	gene	DOID:9007558	Acute Experimental Pancreatitis		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		associated with Anemia, Hemolytic	PMID:12845374|REF_RGD_ID:10449461
8789275	Tnf	tumor necrosis factor	gene	DOID:9007588	Heart Injuries	ameliorates	ISO	RGD:11429	D	RGD:9068941	20230330	RGD		associated with obesity	PMID:32084395|REF_RGD_ID:242905211
8789275	Tnf	tumor necrosis factor	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16493877|PMID:20943792
8789275	Tnf	tumor necrosis factor	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:16202847|REF_RGD_ID:1580312
8789275	Tnf	tumor necrosis factor	gene	DOID:9007692	Insulin Resistance		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:14764603|REF_RGD_ID:1580214
8789275	Tnf	tumor necrosis factor	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD		associated with Obesity	PMID:25016878|REF_RGD_ID:10450578
8789275	Tnf	tumor necrosis factor	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD		associated with obesity	PMID:9832430|REF_RGD_ID:14995428
8789275	Tnf	tumor necrosis factor	gene	DOID:9007730	Burns		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18277951
8789275	Tnf	tumor necrosis factor	gene	DOID:9007730	Burns	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:26152211|REF_RGD_ID:11049530
8789275	Tnf	tumor necrosis factor	gene	DOID:9007755	Intestinal Reperfusion Injury	treatment	ISO	RGD:3876	D	RGD:9068941	20230824	RGD			PMID:22079846|REF_RGD_ID:401794136
8789275	Tnf	tumor necrosis factor	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:3876	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, heart:	PMID:24157164|REF_RGD_ID:7387274
8789275	Tnf	tumor necrosis factor	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:3876	D	RGD:9068941	20220929	RGD			PMID:31583047|REF_RGD_ID:155230831
8789275	Tnf	tumor necrosis factor	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8789275	Tnf	tumor necrosis factor	gene	DOID:9008	psoriatic arthritis		ISO	RGD:1344192	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to	PMID:12759288|PMID:16720636|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668
8789275	Tnf	tumor necrosis factor	gene	DOID:9008	psoriatic arthritis	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP: :-238G>A(rs361525)(human)	PMID:9326391|REF_RGD_ID:7394813
8789275	Tnf	tumor necrosis factor	gene	DOID:9008261	Chemically-Induced Disorders		ISO	RGD:1344192	D	RGD:9068941	20230907	CTD		CTD Direct Evidence: marker/mechanism	PMID:36108500
8789275	Tnf	tumor necrosis factor	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23431386
8789275	Tnf	tumor necrosis factor	gene	DOID:9008455	High-Frequency Hearing Loss		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:23996384|REF_RGD_ID:7394699
8789275	Tnf	tumor necrosis factor	gene	DOID:9008604	Radiation Pneumonitis	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1799724(human)	PMID:20811626|REF_RGD_ID:5131286
8789275	Tnf	tumor necrosis factor	gene	DOID:9008614	Cardiovascular Pregnancy Complications		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10716473
8789275	Tnf	tumor necrosis factor	gene	DOID:9008680	Respiratory Tract Infections		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		Severe Acute Respiratory Syndrome; protein:increased expression:serum	PMID:14633438|REF_RGD_ID:4145665
8789275	Tnf	tumor necrosis factor	gene	DOID:9008691	Liver Injury	treatment	ISO	RGD:3876	D	RGD:9068941	20250403	RGD			PMID:28358702|REF_RGD_ID:598099567
8789275	Tnf	tumor necrosis factor	gene	DOID:9008821	Otitis Media with Effusion		ISO	RGD:11429	D	RGD:9068941	20200609	RGD		protein:increased expression:middle ear effusion:	PMID:18568516|REF_RGD_ID:7394746
8789275	Tnf	tumor necrosis factor	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037|PMID:17516992|PMID:19446661
8789275	Tnf	tumor necrosis factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8789275	Tnf	tumor necrosis factor	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10541330
8789275	Tnf	tumor necrosis factor	gene	DOID:9065	leishmaniasis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16540374
8789275	Tnf	tumor necrosis factor	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1344192	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to	PMID:12759288|PMID:16720636|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668
8789275	Tnf	tumor necrosis factor	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20102417
8789275	Tnf	tumor necrosis factor	gene	DOID:9111	cutaneous leishmaniasis	no_association	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-308G>A (rs1800629) (human)	PMID:16950634|REF_RGD_ID:8548800
8789275	Tnf	tumor necrosis factor	gene	DOID:9120	amyloidosis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		associated with Arthritis, Rheumatoid	PMID:14613268|REF_RGD_ID:10450570
8789275	Tnf	tumor necrosis factor	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:15579454|REF_RGD_ID:8548789
8789275	Tnf	tumor necrosis factor	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1901333|PMID:22461696
8789275	Tnf	tumor necrosis factor	gene	DOID:9146	visceral leishmaniasis	severity	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:polymorphisms	PMID:12438370|REF_RGD_ID:8548784
8789275	Tnf	tumor necrosis factor	gene	DOID:9155	mucocutaneous leishmaniasis		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-308G>A (human)	PMID:7595196|REF_RGD_ID:8548799
8789275	Tnf	tumor necrosis factor	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12615666
8789275	Tnf	tumor necrosis factor	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24513509
8789275	Tnf	tumor necrosis factor	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:28843383|REF_RGD_ID:14975146
8789275	Tnf	tumor necrosis factor	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:20559450|REF_RGD_ID:5130987
8789275	Tnf	tumor necrosis factor	gene	DOID:9402	epididymitis		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:29311626|REF_RGD_ID:13792835
8789275	Tnf	tumor necrosis factor	gene	DOID:9408	acute myocardial infarction	ameliorates	ISO	RGD:3876	D	RGD:9068941	20230420	RGD			PMID:32068187|REF_RGD_ID:267358468
8789275	Tnf	tumor necrosis factor	gene	DOID:9452	steatotic liver disease		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23348005
8789275	Tnf	tumor necrosis factor	gene	DOID:9538	multiple myeloma	no_association	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-308G>A (human)	PMID:12815949|REF_RGD_ID:10449453
8789275	Tnf	tumor necrosis factor	gene	DOID:9538	multiple myeloma	treatment	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-238G>A (human)	PMID:12200397|REF_RGD_ID:10449450
8789275	Tnf	tumor necrosis factor	gene	DOID:9563	bronchiectasis		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17931847
8789275	Tnf	tumor necrosis factor	gene	DOID:9563	bronchiectasis	severity	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:18221721|REF_RGD_ID:12904660
8789275	Tnf	tumor necrosis factor	gene	DOID:9588	encephalitis		ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:16006567|REF_RGD_ID:5147676
8789275	Tnf	tumor necrosis factor	gene	DOID:9675	pulmonary emphysema		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25106431
8789275	Tnf	tumor necrosis factor	gene	DOID:9743	diabetic neuropathy	treatment	ISO	RGD:3876	D	RGD:9068941	20200609	RGD			PMID:23280817|REF_RGD_ID:7401217
8789275	Tnf	tumor necrosis factor	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23640034
8789275	Tnf	tumor necrosis factor	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	ISO	RGD:1344192	D	RGD:9068941	20200609	RGD		DNA:SNP (human)	PMID:19120272|REF_RGD_ID:2313253
8789275	Tnf	tumor necrosis factor	gene	DOID:9767	myocardial stunning		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11927517
8789275	Tnf	tumor necrosis factor	gene	DOID:9784	trichinosis		ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:19564380|REF_RGD_ID:8548805
8789275	Tnf	tumor necrosis factor	gene	DOID:9884	muscular dystrophy		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:10235436|REF_RGD_ID:10449464
8789275	Tnf	tumor necrosis factor	gene	DOID:9970	obesity		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11328671|PMID:20141834|PMID:29035695|PMID:9502777
8789275	Tnf	tumor necrosis factor	gene	DOID:9970	obesity		ISO	RGD:1344192	D	RGD:9068941	20200609	RGD			PMID:28843383|REF_RGD_ID:14975146
8789275	Tnf	tumor necrosis factor	gene	DOID:9970	obesity	treatment	ISO	RGD:11429	D	RGD:9068941	20200609	RGD			PMID:24146106|REF_RGD_ID:10450599
8789275	Tnf	tumor necrosis factor	gene	DOID:9976	heroin dependence	treatment	ISO	RGD:3876	D	RGD:9068941	20250417	RGD			PMID:37112606|REF_RGD_ID:598130076
8789275	Tnf	tumor necrosis factor	gene	DOID:9993	hypoglycemia		ISO	RGD:1344192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8774068
8789287	Tmem209	transmembrane protein 209	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789287	Tmem209	transmembrane protein 209	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8789287	Tmem209	transmembrane protein 209	gene	DOID:1324	lung cancer		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8789287	Tmem209	transmembrane protein 209	gene	DOID:1909	melanoma		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8789287	Tmem209	transmembrane protein 209	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8789287	Tmem209	transmembrane protein 209	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8789287	Tmem209	transmembrane protein 209	gene	DOID:5041	esophageal cancer		ISO	RGD:1605919	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8789287	Tmem209	transmembrane protein 209	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789287	Tmem209	transmembrane protein 209	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8789287	Tmem209	transmembrane protein 209	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8789287	Tmem209	transmembrane protein 209	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789287	Tmem209	transmembrane protein 209	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8789331	Efhd2	EF-hand domain family member D2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8789331	Efhd2	EF-hand domain family member D2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789331	Efhd2	EF-hand domain family member D2	gene	DOID:9006302	Binge Drinking		ISO	RGD:1316863	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28397836
8789331	Efhd2	EF-hand domain family member D2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8789348	Ist1	IST1 factor associated with ESCRT-III	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789348	Ist1	IST1 factor associated with ESCRT-III	gene	DOID:10534	stomach cancer		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8789348	Ist1	IST1 factor associated with ESCRT-III	gene	DOID:1324	lung cancer		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8789348	Ist1	IST1 factor associated with ESCRT-III	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8789348	Ist1	IST1 factor associated with ESCRT-III	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8789348	Ist1	IST1 factor associated with ESCRT-III	gene	DOID:4362	cervical cancer		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8789348	Ist1	IST1 factor associated with ESCRT-III	gene	DOID:5041	esophageal cancer		ISO	RGD:1605407	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8789348	Ist1	IST1 factor associated with ESCRT-III	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789348	Ist1	IST1 factor associated with ESCRT-III	gene	DOID:6039	uveal melanoma		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8789348	Ist1	IST1 factor associated with ESCRT-III	gene	DOID:9256	colorectal cancer		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8789364	Pemt	phosphatidylethanolamine N-methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789364	Pemt	phosphatidylethanolamine N-methyltransferase	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:3297	D	RGD:9068941	20200609	RGD			PMID:17156888|REF_RGD_ID:1642369
8789364	Pemt	phosphatidylethanolamine N-methyltransferase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:732310	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29416063
8789364	Pemt	phosphatidylethanolamine N-methyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:732310	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8789364	Pemt	phosphatidylethanolamine N-methyltransferase	gene	DOID:5082	liver cirrhosis		ISO	RGD:732310	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29416063
8789364	Pemt	phosphatidylethanolamine N-methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789364	Pemt	phosphatidylethanolamine N-methyltransferase	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:3297	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:7929120|REF_RGD_ID:1642378
8789364	Pemt	phosphatidylethanolamine N-methyltransferase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3297	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:17116711|REF_RGD_ID:1642370
8789364	Pemt	phosphatidylethanolamine N-methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789364	Pemt	phosphatidylethanolamine N-methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8789385	Ftcd	formimidoyltransferase cyclodeaminase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789385	Ftcd	formimidoyltransferase cyclodeaminase	gene	DOID:0111679	glutamate formiminotransferase deficiency		ISO	RGD:733688	D	RGD:7240710	20180130	OMIM			
8789385	Ftcd	formimidoyltransferase cyclodeaminase	gene	DOID:0111679	glutamate formiminotransferase deficiency		ISO	RGD:733688	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Formiminoglutamic aciduria | ClinVar Annotator: match by term: GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY | ClinVar Annotator: match by term: Glutamate formiminotransferase deficiency | ClinVar Annotator: match by term: formiminoglutamic aciduria	PMID:12815595|PMID:16199547|PMID:17576681|PMID:25741868|PMID:26633545|PMID:28492532|PMID:29178637|PMID:29869163|PMID:30679813|PMID:30740726|PMID:9536098
8789385	Ftcd	formimidoyltransferase cyclodeaminase	gene	DOID:1059	intellectual disability		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8789385	Ftcd	formimidoyltransferase cyclodeaminase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8789385	Ftcd	formimidoyltransferase cyclodeaminase	gene	DOID:1115	sarcoma		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8789385	Ftcd	formimidoyltransferase cyclodeaminase	gene	DOID:1324	lung cancer		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8789385	Ftcd	formimidoyltransferase cyclodeaminase	gene	DOID:1909	melanoma		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8789385	Ftcd	formimidoyltransferase cyclodeaminase	gene	DOID:3275	thymoma		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8789385	Ftcd	formimidoyltransferase cyclodeaminase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8789385	Ftcd	formimidoyltransferase cyclodeaminase	gene	DOID:5041	esophageal cancer		ISO	RGD:733688	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8789385	Ftcd	formimidoyltransferase cyclodeaminase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789385	Ftcd	formimidoyltransferase cyclodeaminase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8789385	Ftcd	formimidoyltransferase cyclodeaminase	gene	DOID:630	genetic disease		ISO	RGD:733688	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8789385	Ftcd	formimidoyltransferase cyclodeaminase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8789385	Ftcd	formimidoyltransferase cyclodeaminase	gene	DOID:8584	Burkitt lymphoma		ISO	RGD:733688	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143597
8789385	Ftcd	formimidoyltransferase cyclodeaminase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:733688	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8789385	Ftcd	formimidoyltransferase cyclodeaminase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8789385	Ftcd	formimidoyltransferase cyclodeaminase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789385	Ftcd	formimidoyltransferase cyclodeaminase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8789404	Atp5pf	ATP synthase peripheral stalk subunit F6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789404	Atp5pf	ATP synthase peripheral stalk subunit F6	gene	DOID:10534	stomach cancer		ISO	RGD:735304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8789404	Atp5pf	ATP synthase peripheral stalk subunit F6	gene	DOID:10825	essential hypertension		ISO	RGD:735304	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (human)	PMID:14654753|REF_RGD_ID:13800915
8789404	Atp5pf	ATP synthase peripheral stalk subunit F6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8789404	Atp5pf	ATP synthase peripheral stalk subunit F6	gene	DOID:114	heart disease		ISO	RGD:735304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16844662
8789404	Atp5pf	ATP synthase peripheral stalk subunit F6	gene	DOID:1909	melanoma		ISO	RGD:735304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8789404	Atp5pf	ATP synthase peripheral stalk subunit F6	gene	DOID:4362	cervical cancer		ISO	RGD:735304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8789404	Atp5pf	ATP synthase peripheral stalk subunit F6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789404	Atp5pf	ATP synthase peripheral stalk subunit F6	gene	DOID:6432	pulmonary hypertension		ISO	RGD:621376	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung, plasma (rat)	PMID:27916219|REF_RGD_ID:13800892
8789404	Atp5pf	ATP synthase peripheral stalk subunit F6	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:621376	D	RGD:9068941	20200609	RGD			PMID:27491388|REF_RGD_ID:13800894
8789404	Atp5pf	ATP synthase peripheral stalk subunit F6	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:621376	D	RGD:9068941	20200609	RGD		associated with hypertension;protein:increased expression:heart left ventricle (rat)	PMID:25900768|REF_RGD_ID:11085539
8789404	Atp5pf	ATP synthase peripheral stalk subunit F6	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:735304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8789404	Atp5pf	ATP synthase peripheral stalk subunit F6	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:621376	D	RGD:9068941	20200609	RGD			PMID:28731155|REF_RGD_ID:13800891
8789404	Atp5pf	ATP synthase peripheral stalk subunit F6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789404	Atp5pf	ATP synthase peripheral stalk subunit F6	gene	DOID:9008691	Liver Injury		ISO	RGD:621376	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:25772430|REF_RGD_ID:13800895
8789428	Tfap2e	transcription factor AP-2 epsilon	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789428	Tfap2e	transcription factor AP-2 epsilon	gene	DOID:1115	sarcoma		ISO	RGD:1352189	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8789428	Tfap2e	transcription factor AP-2 epsilon	gene	DOID:305	carcinoma		ISO	RGD:1352189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Carcinoma	PMID:25741868|PMID:37291585
8789428	Tfap2e	transcription factor AP-2 epsilon	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8789428	Tfap2e	transcription factor AP-2 epsilon	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789428	Tfap2e	transcription factor AP-2 epsilon	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352189	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789428	Tfap2e	transcription factor AP-2 epsilon	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8789428	Tfap2e	transcription factor AP-2 epsilon	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8789456	Mettl26	methyltransferase like 26	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789456	Mettl26	methyltransferase like 26	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8789456	Mettl26	methyltransferase like 26	gene	DOID:1324	lung cancer		ISO	RGD:1603944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8789456	Mettl26	methyltransferase like 26	gene	DOID:3070	high grade glioma		ISO	RGD:1603944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8789456	Mettl26	methyltransferase like 26	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8789456	Mettl26	methyltransferase like 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789456	Mettl26	methyltransferase like 26	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8789456	Mettl26	methyltransferase like 26	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8789456	Mettl26	methyltransferase like 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789474	Vat1l	vesicle amine transport 1 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8789474	Vat1l	vesicle amine transport 1 like	gene	DOID:10534	stomach cancer		ISO	RGD:1605968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8789474	Vat1l	vesicle amine transport 1 like	gene	DOID:1324	lung cancer		ISO	RGD:1605968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8789474	Vat1l	vesicle amine transport 1 like	gene	DOID:1909	melanoma		ISO	RGD:1605968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8789474	Vat1l	vesicle amine transport 1 like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8789474	Vat1l	vesicle amine transport 1 like	gene	DOID:3275	thymoma		ISO	RGD:1605968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8789474	Vat1l	vesicle amine transport 1 like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8789474	Vat1l	vesicle amine transport 1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789487	Trappc2	trafficking protein particle complex subunit 2	gene	DOID:0080362	X-linked spondyloepiphyseal dysplasia tarda		ISO	RGD:1350228	D	RGD:7240710	20181219	OMIM			
8789487	Trappc2	trafficking protein particle complex subunit 2	gene	DOID:0080362	X-linked spondyloepiphyseal dysplasia tarda		ISO	RGD:1350228	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked	PMID:25741868
8789487	Trappc2	trafficking protein particle complex subunit 2	gene	DOID:0112284	spondyloepiphyseal dysplasia tarda		ISO	RGD:1350228	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda	PMID:25741868
8789487	Trappc2	trafficking protein particle complex subunit 2	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1350228	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	
8789487	Trappc2	trafficking protein particle complex subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1350228	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8789496	Cntd1	cyclin N-terminal domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1603365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8789496	Cntd1	cyclin N-terminal domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1603365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8789496	Cntd1	cyclin N-terminal domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1603365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8789496	Cntd1	cyclin N-terminal domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789554	Amdhd1	amidohydrolase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789554	Amdhd1	amidohydrolase domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1603900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8789554	Amdhd1	amidohydrolase domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1603900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8789554	Amdhd1	amidohydrolase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789554	Amdhd1	amidohydrolase domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8789554	Amdhd1	amidohydrolase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789554	Amdhd1	amidohydrolase domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8789568	Rpl10	ribosomal protein L10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8789568	Rpl10	ribosomal protein L10	gene	DOID:0080241	syndromic X-linked mental retardation 35		ISO	RGD:1350175	D	RGD:7240710	20260729	OMIM			
8789568	Rpl10	ribosomal protein L10	gene	DOID:0080241	syndromic X-linked mental retardation 35		ISO	RGD:1350175	D	RGD:8554872	20240521	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 35 | ClinVar Annotator: match by term: Intellectual disability, X-linked, syndromic, 35	PMID:18258260|PMID:25316788|PMID:25741868|PMID:25846674|PMID:26290468|PMID:7626060
8789568	Rpl10	ribosomal protein L10	gene	DOID:1059	intellectual disability		ISO	RGD:1350175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate	
8789568	Rpl10	ribosomal protein L10	gene	DOID:10907	microcephaly		ISO	RGD:1350175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
8789568	Rpl10	ribosomal protein L10	gene	DOID:12849	autistic disorder		ISO	RGD:1350175	D	RGD:7240710	20260729	OMIM			
8789568	Rpl10	ribosomal protein L10	gene	DOID:12849	autistic disorder		ISO	RGD:1350175	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AUTISM, SUSCEPTIBILITY TO, X-LINKED 5 | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 5 | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8789568	Rpl10	ribosomal protein L10	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1350175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	
8789568	Rpl10	ribosomal protein L10	gene	DOID:1909	melanoma		ISO	RGD:1350175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8789568	Rpl10	ribosomal protein L10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8789568	Rpl10	ribosomal protein L10	gene	DOID:4362	cervical cancer		ISO	RGD:1350175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8789568	Rpl10	ribosomal protein L10	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1350175	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23263491
8789568	Rpl10	ribosomal protein L10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789568	Rpl10	ribosomal protein L10	gene	DOID:630	genetic disease		ISO	RGD:1350175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25316788|PMID:26290468|PMID:35876338
8789568	Rpl10	ribosomal protein L10	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1350175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8789568	Rpl10	ribosomal protein L10	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1350175	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8789568	Rpl10	ribosomal protein L10	gene	DOID:9003507	Premature Birth		ISO	RGD:1350175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
8789568	Rpl10	ribosomal protein L10	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
8789568	Rpl10	ribosomal protein L10	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1350175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	
8789568	Rpl10	ribosomal protein L10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789568	Rpl10	ribosomal protein L10	gene	DOID:9007661	Dwarfism		ISO	RGD:1350175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8789568	Rpl10	ribosomal protein L10	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8789568	Rpl10	ribosomal protein L10	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1350175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:0060249	scoliosis		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:28867141|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:0060260	ptosis		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:0060500	drug allergy		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Drug allergy	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:0070065	autosomal dominant intellectual developmental disorder 35		ISO	RGD:1315410	D	RGD:7240710	20180130	OMIM			
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:0070065	autosomal dominant intellectual developmental disorder 35		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HOUGE-JANSSENS SYNDROME 1 | ClinVar Annotator: match by term: Houge-Janssens syndrome 1 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 35 | ClinVar Annotator: match by term: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | ClinVar Annotator: match by term: PPP2R5D-related condition	PMID:19344873|PMID:19716788|PMID:24896178|PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:28867141|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32595695|PMID:32743835|PMID:33004838|PMID:33338668|PMID:34490615|PMID:35586607|PMID:35887114|PMID:36216457|PMID:38150499|PMID:38764027|PMID:40712571
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:0070309	absence epilepsy		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:0080380	nephrotic syndrome type 5		ISO	RGD:10448644	D	RGD:9068941	20250410	ClinVar		ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities	PMID:25741868|PMID:30676711|PMID:32295525
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:0110059	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Keratosis pilaris	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:10376	amblyopia		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:10534	stomach cancer		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:1059	intellectual disability		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:30676711|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33098144|PMID:33338668|PMID:34490615|PMID:34906502|PMID:35887114|PMID:36216457|PMID:39169681
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:10604	lactose intolerance		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lactose intolerance	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:26576547|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:33482199|PMID:33727758|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:10754	otitis media		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:1115	sarcoma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:11383	cryptorchidism		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:11782	astigmatism		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:11830	myopia		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:28867141|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:1205	allergic disease		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:12849	autistic disorder		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism, susceptibility to, 15 | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:12849	autistic disorder		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 2 | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:28867141|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:13250	diarrhea		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:1657	ventricular septal defect		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:1826	epilepsy		ISO	RGD:1315410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:19344873|PMID:25741868|PMID:26168268|PMID:27350047|PMID:28492532|PMID:28867141|PMID:31785789|PMID:32074998|PMID:32371413|PMID:35586607|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:1826	epilepsy		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:19344873|PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:27350047|PMID:28492532|PMID:28867141|PMID:29051493|PMID:31785789|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35586607|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:1909	melanoma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:2340	craniosynostosis		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:255	hemangioma		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:2841	asthma		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:3044	food allergy		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Food allergy	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:3070	high grade glioma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:4362	cervical cancer		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:4481	allergic rhinitis		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:26576547|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:535	sleep disorder		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sleep disturbance | ClinVar Annotator: match by term: sleep disturbance	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:540	strabismus		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:28867141|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:552	pneumonia		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:6039	uveal melanoma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:62	aortic valve disease		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aortic valve disorder	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:630	genetic disease		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19344873|PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:28867141|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35586607|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:6364	migraine		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:19344873|PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:35586607
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:6543	acne		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acne	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:680	tauopathy		ISO	RGD:1315411	D	RGD:9068941	20200609	RGD			PMID:21482799|REF_RGD_ID:13515115
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:8488	polyhydramnios		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9001581	Constipation		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9003507	Premature Birth		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9003591	Telecanthus		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9003816	Macrocephaly		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:28867141|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315410	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myoclonus epilepsy	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:19344873|PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:35586607
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:28867141|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9007356	Eczema		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Eczema	PMID:25741868|PMID:28492532
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9007661	Dwarfism		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19344873|PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:28867141|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35586607|PMID:35887114|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:25972378|PMID:26168268|PMID:26576547|PMID:28492532|PMID:32074998|PMID:35813072|PMID:36216457|PMID:36833222|PMID:39201832|PMID:39825153
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:905	Zellweger syndrome		ISO	RGD:1315410	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum	PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:936	brain disease		ISO	RGD:1315410	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
8789582	Ppp2r5d	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
8789620	Tsen15	tRNA splicing endonuclease subunit 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789620	Tsen15	tRNA splicing endonuclease subunit 15	gene	DOID:0112329	pontocerebellar hypoplasia type 2F		ISO	RGD:1318440	D	RGD:7240710	20190315	OMIM			
8789620	Tsen15	tRNA splicing endonuclease subunit 15	gene	DOID:0112329	pontocerebellar hypoplasia type 2F		ISO	RGD:1318440	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 2F	PMID:25741868
8789620	Tsen15	tRNA splicing endonuclease subunit 15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8789620	Tsen15	tRNA splicing endonuclease subunit 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789620	Tsen15	tRNA splicing endonuclease subunit 15	gene	DOID:630	genetic disease		ISO	RGD:1318440	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8789620	Tsen15	tRNA splicing endonuclease subunit 15	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8789620	Tsen15	tRNA splicing endonuclease subunit 15	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318440	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8789620	Tsen15	tRNA splicing endonuclease subunit 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:619563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:619563	D	RGD:9068941	20210423	RGD			PMID:11673832|REF_RGD_ID:126781761
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:0050902	medulloblastoma		ISO	RGD:619563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20168248
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:619563	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:17119686|REF_RGD_ID:2289931
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:0060074	ductal carcinoma in situ	disease_progression	ISO	RGD:619563	D	RGD:9068941	20200609	RGD			PMID:15788662|REF_RGD_ID:2289981
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:10283	prostate cancer		ISO	RGD:619563	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:10283	prostate cancer		ISO	RGD:619563	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:10376	amblyopia		ISO	RGD:2561	D	RGD:9068941	20240411	RGD		protein:increased expression, increased phosphorylation:visual cortex	PMID:34273906|REF_RGD_ID:405649729
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:10533	D	RGD:9068941	20200609	RGD			PMID:12526770|REF_RGD_ID:734940
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:10533	D	RGD:9068941	20220825	MouseDO		OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712	
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:619563	D	RGD:7240710	20220209	OMIM			
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:619563	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:10591	pre-eclampsia		ISO	RGD:619563	D	RGD:9068941	20200609	RGD			PMID:9158311|REF_RGD_ID:1580990
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:619563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25994018|PMID:29533785|PMID:29967253|PMID:35101336
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:619563	D	RGD:9068941	20200609	RGD			PMID:16685269|REF_RGD_ID:2298502
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:619563	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:10533	D	RGD:9068941	20200609	RGD			PMID:12072561|REF_RGD_ID:734939
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:10533	D	RGD:9068941	20220825	MouseDO			
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:619563	D	RGD:9068941	20200609	RGD			PMID:15685397|REF_RGD_ID:1580988
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:13133	HELLP syndrome		ISO	RGD:619563	D	RGD:9068941	20200609	RGD			PMID:9158311|REF_RGD_ID:1580990
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:619563	D	RGD:7240710	20240124	OMIM			
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:619563	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:13949	interstitial cystitis	disease_progression	ISO	RGD:2561	D	RGD:9068941	20240411	RGD			PMID:30989724|REF_RGD_ID:405295490
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:619563	D	RGD:9068941	20200609	RGD		protein:decreased expression:forebrain	PMID:15857400|REF_RGD_ID:2289955
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:619563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:12798140|PMID:22046346|PMID:23220880|PMID:24971884|PMID:28487443|PMID:29533785|PMID:29954840|PMID:29967253|PMID:30449325|PMID:30531871|PMID:31046123|PMID:31588020|PMID:31925410|PMID:35101336|PMID:35503682
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:1612	breast cancer		ISO	RGD:10533	D	RGD:9068941	20240425	MouseDO		OMIM:114480	
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:182	calcinosis		ISO	RGD:619563	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;protein:increased expression:breast	PMID:18256879|REF_RGD_ID:2289923
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:1909	melanoma		ISO	RGD:619563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:2154	nephroblastoma		ISO	RGD:619563	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:16932912|REF_RGD_ID:2289932
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:619563	D	RGD:7240710	20210818	OMIM			
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:619563	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:619563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26950094
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:2615	papilloma		ISO	RGD:619563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8603490
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:619563	D	RGD:9068941	20250109	RGD		mRNA:increased expression:urinary bladder	PMID:14614020|REF_RGD_ID:2298506
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:2671	transitional cell carcinoma	severity	ISO	RGD:619563	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder	PMID:17987577|REF_RGD_ID:2289927
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:2876	laryngeal squamous cell carcinoma	disease_progression	ISO	RGD:619563	D	RGD:9068941	20210423	RGD			PMID:22549618|REF_RGD_ID:126790474
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:299	adenocarcinoma		ISO	RGD:619563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21673877|PMID:22042947
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:619563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28235801
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:3068	glioblastoma		ISO	RGD:619563	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLIOBLASTOMA, SOMATIC	
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:3070	high grade glioma		ISO	RGD:619563	D	RGD:7240710	20230505	OMIM			
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:3070	high grade glioma		ISO	RGD:619563	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:15457249|PMID:24728327|PMID:25741868|PMID:26094658|PMID:28492532|PMID:31115453|PMID:32366937
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:3443	mammary Paget's disease		ISO	RGD:619563	D	RGD:9068941	20200609	RGD		DNA:amplification	PMID:16932067|REF_RGD_ID:2289933
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:3457	invasive lobular carcinoma	severity	ISO	RGD:619563	D	RGD:9068941	20200609	RGD			PMID:16761510|REF_RGD_ID:2289935
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:12834292	D	RGD:9068941	20250109	ClinVar		ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:18413839|PMID:22046346|PMID:23220880|PMID:25157968|PMID:26619011
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:619563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:619563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-small cell lung carcinoma	PMID:15457249|PMID:15753357|PMID:16863509|PMID:22761469|PMID:24033266
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:619563	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADENOCARCINOMA OF LUNG, SOMATIC | ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:15753357|PMID:16638863|PMID:17311002|PMID:18334834|PMID:22325357|PMID:22761469|PMID:24033266|PMID:31588020|PMID:35101336|PMID:35503682
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:619563	D	RGD:9068941	20210423	RGD			PMID:26824984|REF_RGD_ID:126790475
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:4001	ovarian carcinoma		ISO	RGD:619563	D	RGD:9068941	20221215	CTD		CTD Direct Evidence: marker/mechanism	PMID:28811376
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:619563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10897039
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:619563	D	RGD:9068941	20200609	RGD			PMID:17296437|REF_RGD_ID:2289930
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:619563	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney	PMID:15360049|REF_RGD_ID:2289987
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:619563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:619563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16818635
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:619563	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:5517	stomach carcinoma	disease_progression	ISO	RGD:619563	D	RGD:9068941	20210423	RGD			PMID:21709195|REF_RGD_ID:126781768
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:5520	head and neck squamous cell carcinoma	disease_progression	ISO	RGD:619563	D	RGD:9068941	20210423	RGD			PMID:20604875|REF_RGD_ID:126790467
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:571	median neuropathy		ISO	RGD:2561	D	RGD:9068941	20200609	RGD			PMID:19296522|REF_RGD_ID:10449020
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:619563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:2561	D	RGD:9068941	20240418	RGD			PMID:26892146|REF_RGD_ID:11522702
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:6000	congestive heart failure		ISO	RGD:2561	D	RGD:9068941	20200609	RGD			PMID:10421602|REF_RGD_ID:1580989
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:630	genetic disease		ISO	RGD:619563	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:619563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:619563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24997986
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:619563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21532492
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:619563	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;DNA, protein:polymorphism, increased expression:serum:p.I655V	PMID:18237248|REF_RGD_ID:2289925
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:619563	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Transitional Cell;protein:increased expression:urinary bladder	PMID:18097576|REF_RGD_ID:2289926
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:619563	D	RGD:9068941	20220901	RGD		associated with lung adenocarcinoma; protein:increased expression:lung (human)	PMID:21966491|REF_RGD_ID:153344600
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:619563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22042947
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:619563	D	RGD:9068941	20220210	CTD		CTD Direct Evidence: marker/mechanism	PMID:15640503|PMID:21532492|PMID:22042947
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:619563	D	RGD:9068941	20241107	CTD		CTD Direct Evidence: marker/mechanism	PMID:38892447|PMID:8603490
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9000918	Disease Progression		ISO	RGD:619563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10897039|PMID:21638049|PMID:21750559
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9000945	Ventilator-Induced Lung Injury	ameliorates	ISO	RGD:2561	D	RGD:9068941	20240404	RGD			PMID:30813222|REF_RGD_ID:405255647
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:2561	D	RGD:9068941	20200609	RGD		rat gene in a mouse model	PMID:11238891|REF_RGD_ID:734938
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:619563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16984552
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9001131	stress-related disorder		ISO	RGD:2561	D	RGD:9068941	20240425	RGD		protein:decreased expression, decreased phosphorylation:myocardium	PMID:27133902|REF_RGD_ID:405650400
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9001240	Peripheral Nerve Injuries	ameliorates	ISO	RGD:2561	D	RGD:9068941	20240425	RGD			PMID:23437108|REF_RGD_ID:405650403
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:619563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14612517
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:619563	D	RGD:9068941	20200609	RGD			PMID:16771730|REF_RGD_ID:2289934
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:619563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11222871|PMID:16984552|PMID:17363613
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:2561	D	RGD:9068941	20200609	RGD			PMID:9030624|REF_RGD_ID:68774
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:619563	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:10897039|PMID:19896266
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:619563	D	RGD:9068941	20260521	RGD		DNA, protein:amplification, increased expression:ovary	PMID:17987122|REF_RGD_ID:2289928
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:619563	D	RGD:9068941	20260521	RGD		mRNA, protein:increased expression:ovary	PMID:18575766|REF_RGD_ID:2298499
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9002801	Recurrence		ISO	RGD:619563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20079691|PMID:21638049|PMID:26124351
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:619563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11222871
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9003373	Uterine Cervical Neoplasms	disease_progression	ISO	RGD:619563	D	RGD:9068941	20200609	RGD			PMID:16157365|REF_RGD_ID:2298504
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9003373	Uterine Cervical Neoplasms	disease_progression	ISO	RGD:619563	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:17465227|REF_RGD_ID:2289947
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9003774	Familial Visceral Neuropathy 2, Autosomal Recessive		ISO	RGD:619563	D	RGD:7240710	20211103	OMIM			
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9003774	Familial Visceral Neuropathy 2, Autosomal Recessive		ISO	RGD:619563	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Visceral neuropathy, familial, 2, autosomal recessive	
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9004265	Endometrioid Carcinomas		ISO	RGD:619563	D	RGD:9068941	20200609	RGD			PMID:16962163|REF_RGD_ID:2289950
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9004643	Urologic Neoplasms	disease_progression	ISO	RGD:619563	D	RGD:9068941	20200609	RGD			PMID:16360440|REF_RGD_ID:2298503
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:619563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16984552
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:619563	D	RGD:9068941	20240125	CTD		CTD Direct Evidence: marker/mechanism	PMID:12483526
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:2561	D	RGD:9068941	20200609	RGD			PMID:1913683|REF_RGD_ID:2289920
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:2561	D	RGD:9068941	20200609	RGD		Androgen-dependent	PMID:12150826|REF_RGD_ID:6482679
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:619563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25221644|PMID:8603490
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:619563	D	RGD:9068941	20200609	RGD			PMID:17203220|REF_RGD_ID:2289979
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9006205	Animal Disease Models		ISO	RGD:619563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22302033
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9006796	Gastrointestinal Neoplasms		ISO	RGD:619563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21673877
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:2561	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA:decreased expresssion:left ventricle myocardium	PMID:22285193|REF_RGD_ID:10449013
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:619563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:619563	D	RGD:9068941	20200609	RGD			PMID:15685397|REF_RGD_ID:1580988
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:2561	D	RGD:9068941	20200609	RGD		protein:increased expression:oral epithelium	PMID:17704947|REF_RGD_ID:2289941
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9007568	Circulating Neoplastic Cells		ISO	RGD:619563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29044505
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9007702	Carcinogenesis		ISO	RGD:619563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25221644
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9007715	Endometrial Neoplasms	disease_progression	ISO	RGD:619563	D	RGD:9068941	20200609	RGD			PMID:18202752|REF_RGD_ID:2298490
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9007715	Endometrial Neoplasms	severity	ISO	RGD:619563	D	RGD:9068941	20200609	RGD		DNA:amplification	PMID:17945336|REF_RGD_ID:2298491
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9008114	Helicobacter Infections	treatment	ISO	RGD:619563	D	RGD:9068941	20200911	RGD		associated with gastritis;	PMID:25051417|REF_RGD_ID:38599160
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:619563	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:10897039|PMID:11222871|PMID:11248153|PMID:11583189|PMID:11970740|PMID:12006526|PMID:12655533|PMID:12839951|PMID:15581045|PMID:15970926|PMID:15994142|PMID:16091755|PMID:16137437|PMID:16234514|PMID:16446318|PMID:16495393|PMID:16596621|PMID:16682728|PMID:16865596|PMID:16950593|PMID:16978400|PMID:17614302|PMID:18086299|PMID:18768436|PMID:18819904|PMID:18840765|PMID:19075277|PMID:19436038|PMID:19617202|PMID:19801490|PMID:19896266|PMID:20197467|PMID:20332317|PMID:20941507|PMID:21501481|PMID:21638049|PMID:22302033|PMID:25221644|PMID:25358515|PMID:26124351|PMID:35234341
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:619563	D	RGD:9068941	20250109	RGD			PMID:18245541|REF_RGD_ID:2289924
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:619563	D	RGD:9068941	20250109	RGD		DNA:amplification	PMID:18264744|REF_RGD_ID:2289922
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:619563	D	RGD:9068941	20250109	RGD		protein:increased expression:breast	PMID:17119686|PMID:18427947|REF_RGD_ID:2289931|REF_RGD_ID:2292909
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:619563	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood	PMID:18269779|REF_RGD_ID:2289921
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9008939	Breast Neoplasms	treatment	ISO	RGD:619563	D	RGD:9068941	20200609	RGD			PMID:16609042|REF_RGD_ID:10401078
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:619563	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:619563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8789629	Erbb2	erb-b2 receptor tyrosine kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:619563	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
8789659	Myorg	myogenesis regulating glycosidase	gene	DOID:0060230	basal ganglia calcification		ISO	RGD:1320365	D	RGD:9068941	20241226	MouseDO		OMIM:114100 | OMIM:213600 | OMIM:615007 | OMIM:615483	
8789659	Myorg	myogenesis regulating glycosidase	gene	DOID:3275	thymoma		ISO	RGD:1320364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8789659	Myorg	myogenesis regulating glycosidase	gene	DOID:630	genetic disease		ISO	RGD:1320364	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:30649222|PMID:31009047|PMID:31951047|PMID:32211515
8789659	Myorg	myogenesis regulating glycosidase	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1320364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532|PMID:30649222|PMID:31009047|PMID:31951047|PMID:32211515
8789659	Myorg	myogenesis regulating glycosidase	gene	DOID:9001722	Dysarthria		ISO	RGD:1320364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:28492532|PMID:30649222|PMID:31009047|PMID:31951047|PMID:32211515
8789659	Myorg	myogenesis regulating glycosidase	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1320364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:25741868|PMID:28492532|PMID:30649222|PMID:31009047|PMID:31951047|PMID:32211515
8789659	Myorg	myogenesis regulating glycosidase	gene	DOID:9007487	Idiopathic Basal Ganglia Calcification 7		ISO	RGD:1320364	D	RGD:7240710	20190315	OMIM			
8789659	Myorg	myogenesis regulating glycosidase	gene	DOID:9007487	Idiopathic Basal Ganglia Calcification 7		ISO	RGD:1320364	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive | ClinVar Annotator: match by term: MYORG-related condition	PMID:25741868|PMID:28492532|PMID:29910000|PMID:30460687|PMID:30589467|PMID:30649222|PMID:31009047|PMID:31440850|PMID:31951047|PMID:32211515
8789659	Myorg	myogenesis regulating glycosidase	gene	DOID:9007546	Idiopathic Basal Ganglia Calcification 1		ISO	RGD:1320364	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	
8789659	Myorg	myogenesis regulating glycosidase	gene	DOID:9008023	Memory Disorders		ISO	RGD:1320364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532|PMID:30649222|PMID:31009047|PMID:31951047|PMID:32211515
8789692	Mnd1	meiotic nuclear divisions 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789692	Mnd1	meiotic nuclear divisions 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8789692	Mnd1	meiotic nuclear divisions 1	gene	DOID:1909	melanoma		ISO	RGD:1604777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8789692	Mnd1	meiotic nuclear divisions 1	gene	DOID:3070	high grade glioma		ISO	RGD:1604777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8789692	Mnd1	meiotic nuclear divisions 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604777	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8789692	Mnd1	meiotic nuclear divisions 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789692	Mnd1	meiotic nuclear divisions 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8789692	Mnd1	meiotic nuclear divisions 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8789692	Mnd1	meiotic nuclear divisions 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8789735	Cbs	cystathionine beta-synthase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8789735	Cbs	cystathionine beta-synthase	gene	DOID:0050731	vitamin B12 deficiency		ISO	RGD:2287	D	RGD:9068941	20210108	RGD		protein:decreased expression:liver (rat)	PMID:2732804|REF_RGD_ID:40903037
8789735	Cbs	cystathionine beta-synthase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789735	Cbs	cystathionine beta-synthase	gene	DOID:0051062	ischemic stroke		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ischemic stroke	PMID:25741868
8789735	Cbs	cystathionine beta-synthase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:737316	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8789735	Cbs	cystathionine beta-synthase	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:737316	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17119116
8789735	Cbs	cystathionine beta-synthase	gene	DOID:0060249	scoliosis		ISO	RGD:737316	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:10328723|PMID:10338090|PMID:10363126|PMID:10364517|PMID:10807759|PMID:11204591|PMID:11230183|PMID:11359213|PMID:11434706|PMID:1301198|PMID:14722927|PMID:15146473|PMID:16375773|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18805305|PMID:19819175|PMID:19906435|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20601281|PMID:21520339|PMID:22002135|PMID:22069143|PMID:22267502|PMID:23592311|PMID:24033266|PMID:24211323|PMID:25218699|PMID:25516723|PMID:25741868|PMID:26750749|PMID:28492532|PMID:29326875|PMID:29352562|PMID:32769498|PMID:33223529|PMID:6711564|PMID:7611293|PMID:7635485|PMID:7762555|PMID:8803779|PMID:8940271|PMID:8940285|PMID:9361025|PMID:9708897|PMID:9813456|PMID:9864922
8789735	Cbs	cystathionine beta-synthase	gene	DOID:0080074	neural tube defect		ISO	RGD:737316	D	RGD:9068941	20200609	RGD		DNA:polymorphism:677C > T	PMID:12649066|REF_RGD_ID:1600627
8789735	Cbs	cystathionine beta-synthase	gene	DOID:0081337	congenital myopathy		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:10363126|PMID:11204591|PMID:19906435|PMID:20601281|PMID:22002135|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7762555|PMID:8940271|PMID:8940285|PMID:9361025|PMID:9813456
8789735	Cbs	cystathionine beta-synthase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:10363126|PMID:11204591|PMID:19906435|PMID:20601281|PMID:22002135|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7762555|PMID:8940271|PMID:8940285|PMID:9361025|PMID:9813456
8789735	Cbs	cystathionine beta-synthase	gene	DOID:10579	leukodystrophy		ISO	RGD:737316	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:10338090|PMID:10408774|PMID:11359213|PMID:11535567|PMID:12686134|PMID:14722927|PMID:14739681|PMID:16307898|PMID:16479318|PMID:17069888|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:20567906|PMID:22069143|PMID:22267502|PMID:22612060|PMID:22985361|PMID:25087612|PMID:25331909|PMID:25741868|PMID:27959664|PMID:28097321|PMID:28492532|PMID:32232970|PMID:33868930|PMID:34426522|PMID:3746065|PMID:7762555|PMID:8353501|PMID:9587029
8789735	Cbs	cystathionine beta-synthase	gene	DOID:1059	intellectual disability		ISO	RGD:737316	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:10328723|PMID:10338090|PMID:10363126|PMID:10364517|PMID:10807759|PMID:11204591|PMID:11230183|PMID:11359213|PMID:11434706|PMID:11553052|PMID:12686134|PMID:1301198|PMID:14722927|PMID:15146473|PMID:16375773|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18805305|PMID:19819175|PMID:19906435|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20601281|PMID:21520339|PMID:22002135|PMID:22069143|PMID:22267502|PMID:23592311|PMID:24033266|PMID:24211323|PMID:25218699|PMID:25516723|PMID:25741868|PMID:26750749|PMID:28492532|PMID:29326875|PMID:29352562|PMID:32769498|PMID:33223529|PMID:6711564|PMID:7611293|PMID:7635485|PMID:7762555|PMID:8803779|PMID:8940271|PMID:8940285|PMID:9361025|PMID:9708897|PMID:9813456|PMID:9864922
8789735	Cbs	cystathionine beta-synthase	gene	DOID:10629	microphthalmia		ISO	RGD:737316	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:10338090|PMID:10408774|PMID:11359213|PMID:11535567|PMID:12686134|PMID:14722927|PMID:14739681|PMID:16307898|PMID:16479318|PMID:17069888|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:20567906|PMID:22069143|PMID:22267502|PMID:22612060|PMID:22985361|PMID:25087612|PMID:25331909|PMID:25741868|PMID:27959664|PMID:28097321|PMID:28492532|PMID:32232970|PMID:33868930|PMID:34426522|PMID:3746065|PMID:7762555|PMID:8353501|PMID:9587029
8789735	Cbs	cystathionine beta-synthase	gene	DOID:10763	hypertension		ISO	RGD:737316	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18224302
8789735	Cbs	cystathionine beta-synthase	gene	DOID:10892	hypospadias		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
8789735	Cbs	cystathionine beta-synthase	gene	DOID:10907	microcephaly		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:10363126|PMID:11204591|PMID:19906435|PMID:20601281|PMID:22002135|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7762555|PMID:8940271|PMID:8940285|PMID:9361025|PMID:9813456
8789735	Cbs	cystathionine beta-synthase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8789735	Cbs	cystathionine beta-synthase	gene	DOID:1115	sarcoma		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8789735	Cbs	cystathionine beta-synthase	gene	DOID:11364	lens subluxation		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lens subluxation	PMID:11553052|PMID:12686134|PMID:22267502|PMID:25741868|PMID:28492532
8789735	Cbs	cystathionine beta-synthase	gene	DOID:12365	malaria	susceptibility	ISO	RGD:737316	D	RGD:9068941	20210108	RGD		DNA:insertion:cds: (844ins68) (human)	PMID:27198213|REF_RGD_ID:40903062
8789735	Cbs	cystathionine beta-synthase	gene	DOID:12849	autistic disorder		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8789735	Cbs	cystathionine beta-synthase	gene	DOID:12859	choreatic disease		ISO	RGD:737316	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Paroxysmal dyskinesia	PMID:10338090|PMID:10408774|PMID:11359213|PMID:11535567|PMID:12686134|PMID:14722927|PMID:14739681|PMID:16307898|PMID:16479318|PMID:17069888|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:20567906|PMID:22069143|PMID:22267502|PMID:22612060|PMID:22985361|PMID:25087612|PMID:25331909|PMID:25741868|PMID:27959664|PMID:28097321|PMID:28492532|PMID:32232970|PMID:33868930|PMID:34426522|PMID:3746065|PMID:7762555|PMID:8353501|PMID:9587029
8789735	Cbs	cystathionine beta-synthase	gene	DOID:1287	cardiovascular system disease		ISO	RGD:737316	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16791140
8789735	Cbs	cystathionine beta-synthase	gene	DOID:1324	lung cancer		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8789735	Cbs	cystathionine beta-synthase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737316	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10215408|PMID:10328723|PMID:10338090|PMID:10364517|PMID:10408774|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11524006|PMID:11553052|PMID:11748855|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:12815602|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19819175|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20694756|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23934999|PMID:23974653|PMID:24033266|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26464485|PMID:26750749|PMID:27243974|PMID:27604992|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:29158550|PMID:29205322|PMID:29352562|PMID:29590070|PMID:29650765|PMID:30019023|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30556376|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:33223529|PMID:33985475|PMID:34426522|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9675031|PMID:9708897|PMID:9790750|PMID:9864922|PMID:9889017
8789735	Cbs	cystathionine beta-synthase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737316	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10215408|PMID:10328723|PMID:10338090|PMID:10364517|PMID:10408774|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11524006|PMID:11553052|PMID:11748855|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:12815602|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19819175|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20694756|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23934999|PMID:23974653|PMID:24033266|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26464485|PMID:26750749|PMID:27243974|PMID:27604992|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:29158550|PMID:29205322|PMID:29352562|PMID:29590070|PMID:29650765|PMID:30019023|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30380942|PMID:30556376|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:33223529|PMID:33985475|PMID:34426522|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9675031|PMID:9708897|PMID:9790750|PMID:9864922|PMID:9889017
8789735	Cbs	cystathionine beta-synthase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737316	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10215408|PMID:10328723|PMID:10338090|PMID:10364517|PMID:10408774|PMID:10462600|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11524006|PMID:11553052|PMID:11748855|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:12815602|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19429038|PMID:19819175|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20694756|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23934999|PMID:23974653|PMID:24033266|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26464485|PMID:26750749|PMID:26990548|PMID:27243974|PMID:27604992|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:29158550|PMID:29205322|PMID:29352562|PMID:29590070|PMID:29650765|PMID:30019023|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30380942|PMID:30556376|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:33223529|PMID:33985475|PMID:34426522|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:9156316|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9675031|PMID:9708897|PMID:9864922|PMID:9889017
8789735	Cbs	cystathionine beta-synthase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737316	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10215408|PMID:10328723|PMID:10338090|PMID:10364517|PMID:10408774|PMID:10462600|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11524006|PMID:11553052|PMID:11748855|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:12815602|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19429038|PMID:19819175|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20694756|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23934999|PMID:23974653|PMID:24033266|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26132555|PMID:26464485|PMID:26750749|PMID:26990548|PMID:27243974|PMID:27604992|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:29158550|PMID:29205322|PMID:29352562|PMID:29590070|PMID:29650765|PMID:30019023|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30380942|PMID:30556376|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:33223529|PMID:33985475|PMID:34426522|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:9156316|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9675031|PMID:9708897|PMID:9864922|PMID:9889017
8789735	Cbs	cystathionine beta-synthase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737316	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10215408|PMID:10328723|PMID:10338090|PMID:10363126|PMID:10364517|PMID:10408774|PMID:10462600|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11204591|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11524006|PMID:11553052|PMID:11748855|PMID:11774777|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:12815602|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:15993874|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16470595|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19429038|PMID:19819175|PMID:19906435|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20601281|PMID:20694756|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22002135|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23812867|PMID:23934999|PMID:23974653|PMID:24033266|PMID:24138954|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25336647|PMID:25516723|PMID:25741868|PMID:26464485|PMID:26750749|PMID:26990548|PMID:27243974|PMID:27604992|PMID:27681349|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:29158550|PMID:29205322|PMID:29352562|PMID:29650765|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30380942|PMID:30556376|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:32769498|PMID:33057012|PMID:33223529|PMID:33335839|PMID:33985475|PMID:34426522|PMID:35281663|PMID:36588553|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:8940285|PMID:9156316|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9675031|PMID:9708897|PMID:9813456|PMID:9864922|PMID:9889017
8789735	Cbs	cystathionine beta-synthase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737316	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10215408|PMID:10328723|PMID:10338090|PMID:10363126|PMID:10364517|PMID:10408774|PMID:10462600|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11204591|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11524006|PMID:11553052|PMID:11748855|PMID:11774777|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:12815602|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:15993874|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16470595|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19429038|PMID:19819175|PMID:19906435|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20601281|PMID:20694756|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22002135|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23812867|PMID:23934999|PMID:23974653|PMID:24033266|PMID:24138954|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25326637|PMID:25331909|PMID:25336647|PMID:25516723|PMID:25741868|PMID:26464485|PMID:26750749|PMID:26990548|PMID:27243974|PMID:27604992|PMID:27681349|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:29158550|PMID:29205322|PMID:29352562|PMID:29650765|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30380942|PMID:30556376|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:32769498|PMID:33057012|PMID:33223529|PMID:33335839|PMID:33985475|PMID:34426522|PMID:35281663|PMID:36588553|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:8940285|PMID:9156316|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9675031|PMID:9708897|PMID:9813456|PMID:9864922|PMID:9889017
8789735	Cbs	cystathionine beta-synthase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737316	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10215408|PMID:10328723|PMID:10338090|PMID:10363126|PMID:10364517|PMID:10408774|PMID:10462600|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11204591|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11524006|PMID:11553052|PMID:11748855|PMID:11774777|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:12815602|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:15993874|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16470595|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19429038|PMID:19819175|PMID:19906435|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20601281|PMID:20694756|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22002135|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23812867|PMID:23934999|PMID:23974653|PMID:24033266|PMID:24138954|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25336647|PMID:25516723|PMID:25741868|PMID:26464485|PMID:26750749|PMID:26990548|PMID:27243974|PMID:27604992|PMID:27681349|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:29158550|PMID:29205322|PMID:29352562|PMID:29650765|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30380942|PMID:30556376|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31515488|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:33057012|PMID:33223529|PMID:33985475|PMID:34426522|PMID:35281663|PMID:36588553|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:8940285|PMID:9156316|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9675031|PMID:9708897|PMID:9813456|PMID:9864922|PMID:9889017
8789735	Cbs	cystathionine beta-synthase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737316	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10215408|PMID:10328723|PMID:10338090|PMID:10363126|PMID:10364517|PMID:10408774|PMID:10462600|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11204591|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11524006|PMID:11553052|PMID:11748855|PMID:11774777|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:12815602|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:15993874|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16470595|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:18423051|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19429038|PMID:19819175|PMID:19906435|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20601281|PMID:20694756|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22002135|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23812867|PMID:23934999|PMID:23974653|PMID:24033266|PMID:24138954|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25336647|PMID:25516723|PMID:25741868|PMID:26464485|PMID:26750749|PMID:26990548|PMID:27243974|PMID:27604992|PMID:27681349|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:28835823|PMID:28980096|PMID:29158550|PMID:29205322|PMID:29352562|PMID:29508359|PMID:29650765|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30380942|PMID:30556376|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31515488|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:32818659|PMID:33057012|PMID:33223529|PMID:33985475|PMID:34426522|PMID:34449521|PMID:35281663|PMID:36588553|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7849717|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:8940285|PMID:9156316|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9675031|PMID:9708897|PMID:9813456|PMID:9864922|PMID:9889017
8789735	Cbs	cystathionine beta-synthase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737316	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10215408|PMID:10328723|PMID:10338090|PMID:10363126|PMID:10364517|PMID:10408774|PMID:10462600|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11204591|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11524006|PMID:11553052|PMID:11748855|PMID:11774777|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:12815602|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:15993874|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16470595|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:18423051|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19429038|PMID:19819175|PMID:19906435|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20601281|PMID:20694756|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22002135|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23812867|PMID:23934999|PMID:23974653|PMID:24033266|PMID:24138954|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25326637|PMID:25331909|PMID:25336647|PMID:25516723|PMID:25741868|PMID:26464485|PMID:26750749|PMID:26990548|PMID:27243974|PMID:27604992|PMID:27681349|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:28835823|PMID:28980096|PMID:29158550|PMID:29205322|PMID:29352562|PMID:29508359|PMID:29650765|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30380942|PMID:30556376|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31515488|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:32818659|PMID:33057012|PMID:33223529|PMID:33985475|PMID:34426522|PMID:34449521|PMID:35281663|PMID:36588553|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7849717|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:8940285|PMID:9156316|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9675031|PMID:9708897|PMID:9813456|PMID:9864922|PMID:9889017
8789735	Cbs	cystathionine beta-synthase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737316	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10215408|PMID:10328723|PMID:10338090|PMID:10363126|PMID:10364517|PMID:10408774|PMID:10462600|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11204591|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11524006|PMID:11553052|PMID:11748855|PMID:11774777|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:12815602|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:15993874|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16470595|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:1833974|PMID:18423051|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19429038|PMID:19819175|PMID:19906435|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20601281|PMID:20694756|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22002135|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23812867|PMID:23934999|PMID:23974653|PMID:24033266|PMID:24138954|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25326637|PMID:25331909|PMID:25336647|PMID:25516723|PMID:25741868|PMID:26464485|PMID:26750749|PMID:26990548|PMID:27243974|PMID:27604992|PMID:27681349|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:28835823|PMID:28980096|PMID:29158550|PMID:29205322|PMID:29352562|PMID:29508359|PMID:2961848|PMID:29650765|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30380942|PMID:30556376|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31515488|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:32818659|PMID:33057012|PMID:33223529|PMID:33985475|PMID:34426522|PMID:34449521|PMID:35281663|PMID:36588553|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7849717|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:8940285|PMID:9156316|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9675031|PMID:9708897|PMID:9813456|PMID:9864922|PMID:9889017
8789735	Cbs	cystathionine beta-synthase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737316	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10215408|PMID:10328723|PMID:10338090|PMID:10363126|PMID:10364517|PMID:10462600|PMID:10807759|PMID:11204591|PMID:11230183|PMID:11359213|PMID:11434706|PMID:11553052|PMID:11748855|PMID:11774777|PMID:12124992|PMID:12686134|PMID:1301198|PMID:14635102|PMID:14722927|PMID:14739681|PMID:15146473|PMID:15365998|PMID:16205833|PMID:16375773|PMID:16479318|PMID:17072863|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:18708589|PMID:18805305|PMID:19429038|PMID:19819175|PMID:19906435|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20601281|PMID:21308989|PMID:21520339|PMID:21957013|PMID:22002135|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22612060|PMID:23592311|PMID:23812867|PMID:24033266|PMID:24211323|PMID:25218699|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26750749|PMID:27604992|PMID:28303347|PMID:28492532|PMID:28980096|PMID:29326875|PMID:29352562|PMID:30556376|PMID:31301157|PMID:32769498|PMID:33223529|PMID:34449521|PMID:6711564|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7849717|PMID:8803779|PMID:8940271|PMID:8940285|PMID:9156316|PMID:9361025|PMID:9536098|PMID:9708897|PMID:9813456|PMID:9864922
8789735	Cbs	cystathionine beta-synthase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737316	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10215408|PMID:10328723|PMID:10338090|PMID:10363126|PMID:10364517|PMID:10408774|PMID:10462600|PMID:10807759|PMID:11204591|PMID:11230183|PMID:11359213|PMID:11434706|PMID:11535567|PMID:11553052|PMID:11748855|PMID:11774777|PMID:12124992|PMID:12686134|PMID:12815602|PMID:1301198|PMID:14635102|PMID:14722927|PMID:14739681|PMID:15146473|PMID:15365998|PMID:15993874|PMID:16205833|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16470595|PMID:16479318|PMID:17069888|PMID:17072863|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:18708589|PMID:18805305|PMID:19429038|PMID:19819175|PMID:19906435|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20601281|PMID:21308989|PMID:21520339|PMID:21957013|PMID:22002135|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22612060|PMID:22985361|PMID:23592311|PMID:23812867|PMID:24033266|PMID:24211323|PMID:25087612|PMID:25218699|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26750749|PMID:27604992|PMID:27681349|PMID:27959664|PMID:28097321|PMID:28303347|PMID:28492532|PMID:28980096|PMID:29326875|PMID:29352562|PMID:30556376|PMID:31301157|PMID:32232970|PMID:32769498|PMID:33223529|PMID:33868930|PMID:34426522|PMID:34449521|PMID:35281663|PMID:3746065|PMID:39041895|PMID:6711564|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7849717|PMID:8353501|PMID:8803779|PMID:8940271|PMID:8940285|PMID:9156316|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9708897|PMID:9813456|PMID:9864922
8789735	Cbs	cystathionine beta-synthase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737316	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10215408|PMID:10328723|PMID:10338090|PMID:10363126|PMID:10364517|PMID:10408774|PMID:10462600|PMID:10807759|PMID:11204591|PMID:11230183|PMID:11359213|PMID:11434706|PMID:11535567|PMID:11553052|PMID:11748855|PMID:11774777|PMID:12124992|PMID:12686134|PMID:1301198|PMID:14635102|PMID:14722927|PMID:14739681|PMID:15146473|PMID:15365998|PMID:16205833|PMID:16307898|PMID:16375773|PMID:16479318|PMID:17069888|PMID:17072863|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:18708589|PMID:18805305|PMID:19429038|PMID:19819175|PMID:19906435|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20601281|PMID:21308989|PMID:21520339|PMID:22002135|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22612060|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23812867|PMID:23974653|PMID:24033266|PMID:24211323|PMID:25087612|PMID:25218699|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26750749|PMID:27604992|PMID:27959664|PMID:28097321|PMID:28303347|PMID:28421128|PMID:28492532|PMID:28550590|PMID:28980096|PMID:29326875|PMID:29352562|PMID:30556376|PMID:31301157|PMID:32232970|PMID:32769498|PMID:33223529|PMID:33868930|PMID:34426522|PMID:34449521|PMID:3746065|PMID:6711564|PMID:7564249|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7849717|PMID:8353501|PMID:8803779|PMID:8940271|PMID:8940285|PMID:9156316|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9708897|PMID:9813456|PMID:9864922
8789735	Cbs	cystathionine beta-synthase	gene	DOID:1826	epilepsy		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10363126|PMID:11204591|PMID:19906435|PMID:20601281|PMID:22002135|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7762555|PMID:8940271|PMID:8940285|PMID:9361025|PMID:9813456
8789735	Cbs	cystathionine beta-synthase	gene	DOID:1909	melanoma		ISO	RGD:737316	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25205294
8789735	Cbs	cystathionine beta-synthase	gene	DOID:2030	anxiety disorder		ISO	RGD:737316	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:10328723|PMID:10338090|PMID:10364517|PMID:10807759|PMID:11230183|PMID:11359213|PMID:11434706|PMID:1301198|PMID:14722927|PMID:15146473|PMID:16375773|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18805305|PMID:19819175|PMID:20506325|PMID:2056790|PMID:20567906|PMID:21520339|PMID:22069143|PMID:22267502|PMID:23592311|PMID:24033266|PMID:24211323|PMID:25218699|PMID:25516723|PMID:25741868|PMID:26750749|PMID:28492532|PMID:29326875|PMID:29352562|PMID:32769498|PMID:33223529|PMID:6711564|PMID:7611293|PMID:7635485|PMID:8803779|PMID:8940271|PMID:9708897|PMID:9864922
8789735	Cbs	cystathionine beta-synthase	gene	DOID:224	transient cerebral ischemia		ISO	RGD:10297	D	RGD:9068941	20210219	RGD		XCO:0000348	PMID:22212488|REF_RGD_ID:41410880
8789735	Cbs	cystathionine beta-synthase	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:10297	D	RGD:9068941	20210219	RGD		XCO:0000807	PMID:22212488|REF_RGD_ID:41410880
8789735	Cbs	cystathionine beta-synthase	gene	DOID:2452	thrombophilia		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombophilia	PMID:25741868
8789735	Cbs	cystathionine beta-synthase	gene	DOID:2846	bruxism		ISO	RGD:737316	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bruxism	PMID:10338090|PMID:10408774|PMID:11359213|PMID:11535567|PMID:12686134|PMID:14722927|PMID:14739681|PMID:16307898|PMID:16479318|PMID:17069888|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:20567906|PMID:22069143|PMID:22267502|PMID:22612060|PMID:22985361|PMID:25087612|PMID:25331909|PMID:25741868|PMID:27959664|PMID:28097321|PMID:28492532|PMID:32232970|PMID:33868930|PMID:34426522|PMID:3746065|PMID:7762555|PMID:8353501|PMID:9587029
8789735	Cbs	cystathionine beta-synthase	gene	DOID:3275	thymoma		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8789735	Cbs	cystathionine beta-synthase	gene	DOID:3393	coronary artery disease		ISO	RGD:737316	D	RGD:9068941	20200609	RGD		CBS variant c.844ins68	PMID:12855221|REF_RGD_ID:1600626
8789735	Cbs	cystathionine beta-synthase	gene	DOID:3526	cerebral infarction	susceptibility	ISO	RGD:737316	D	RGD:9068941	20230831	RGD		DNA:SNPs,haplotypes:multiple	PMID:20458436|REF_RGD_ID:401794454
8789735	Cbs	cystathionine beta-synthase	gene	DOID:399	tuberculosis		ISO	RGD:10297	D	RGD:9068941	20210108	RGD		protein:increased expression:macrophages (mouse)	PMID:31992699|REF_RGD_ID:40903052
8789735	Cbs	cystathionine beta-synthase	gene	DOID:399	tuberculosis	severity	ISO	RGD:10297	D	RGD:9068941	20210108	RGD			PMID:31992699|REF_RGD_ID:40903052
8789735	Cbs	cystathionine beta-synthase	gene	DOID:423	myopathy		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:10363126|PMID:11204591|PMID:19906435|PMID:20601281|PMID:22002135|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7762555|PMID:8940271|PMID:8940285|PMID:9361025|PMID:9813456
8789735	Cbs	cystathionine beta-synthase	gene	DOID:4362	cervical cancer		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8789735	Cbs	cystathionine beta-synthase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8789735	Cbs	cystathionine beta-synthase	gene	DOID:5041	esophageal cancer		ISO	RGD:737316	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8789735	Cbs	cystathionine beta-synthase	gene	DOID:543	dystonia		ISO	RGD:737316	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:10338090|PMID:10408774|PMID:11359213|PMID:11535567|PMID:12686134|PMID:14722927|PMID:14739681|PMID:16307898|PMID:16479318|PMID:17069888|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:20567906|PMID:22069143|PMID:22267502|PMID:22612060|PMID:22985361|PMID:25087612|PMID:25331909|PMID:25741868|PMID:27959664|PMID:28097321|PMID:28492532|PMID:32232970|PMID:33868930|PMID:34426522|PMID:3746065|PMID:7762555|PMID:8353501|PMID:9587029
8789735	Cbs	cystathionine beta-synthase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:737316	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary breast and ovarian cancer	PMID:10462600|PMID:22267502|PMID:25741868|PMID:28492532
8789735	Cbs	cystathionine beta-synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789735	Cbs	cystathionine beta-synthase	gene	DOID:6132	bronchitis		ISO	RGD:737316	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Chronic bronchitis	PMID:10328723|PMID:10338090|PMID:10364517|PMID:10807759|PMID:11230183|PMID:11359213|PMID:11434706|PMID:1301198|PMID:14722927|PMID:15146473|PMID:16375773|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18805305|PMID:19819175|PMID:20506325|PMID:2056790|PMID:20567906|PMID:21520339|PMID:22069143|PMID:22267502|PMID:23592311|PMID:24033266|PMID:24211323|PMID:25218699|PMID:25516723|PMID:25741868|PMID:26750749|PMID:28492532|PMID:29326875|PMID:29352562|PMID:32769498|PMID:33223529|PMID:6711564|PMID:7611293|PMID:7635485|PMID:8803779|PMID:8940271|PMID:9708897|PMID:9864922
8789735	Cbs	cystathionine beta-synthase	gene	DOID:65	connective tissue disease		ISO	RGD:737316	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder	PMID:10328723|PMID:10338090|PMID:10364517|PMID:10807759|PMID:11230183|PMID:11359213|PMID:11434706|PMID:1301198|PMID:14722927|PMID:15146473|PMID:16375773|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18805305|PMID:19819175|PMID:20506325|PMID:2056790|PMID:20567906|PMID:21520339|PMID:22069143|PMID:22267502|PMID:23592311|PMID:24033266|PMID:24211323|PMID:25218699|PMID:25516723|PMID:25741868|PMID:26750749|PMID:28492532|PMID:29326875|PMID:29352562|PMID:32769498|PMID:33223529|PMID:6711564|PMID:7611293|PMID:7635485|PMID:8803779|PMID:8940271|PMID:9708897|PMID:9864922
8789735	Cbs	cystathionine beta-synthase	gene	DOID:767	muscular atrophy		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:10363126|PMID:11204591|PMID:19906435|PMID:20601281|PMID:22002135|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7762555|PMID:8940271|PMID:8940285|PMID:9361025|PMID:9813456
8789735	Cbs	cystathionine beta-synthase	gene	DOID:865	vasculitis		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasculitis	PMID:10215408|PMID:10364517|PMID:11359213|PMID:12124992|PMID:18708589|PMID:20490928|PMID:20506325|PMID:20567906|PMID:22267502|PMID:25331909|PMID:25741868|PMID:28492532|PMID:7635485
8789735	Cbs	cystathionine beta-synthase	gene	DOID:8927	learning disability		ISO	RGD:737316	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:10328723|PMID:10338090|PMID:10364517|PMID:10807759|PMID:11230183|PMID:11359213|PMID:11434706|PMID:1301198|PMID:14722927|PMID:15146473|PMID:16375773|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18805305|PMID:19819175|PMID:20506325|PMID:2056790|PMID:20567906|PMID:21520339|PMID:22069143|PMID:22267502|PMID:23592311|PMID:24033266|PMID:24211323|PMID:25218699|PMID:25516723|PMID:25741868|PMID:26750749|PMID:28492532|PMID:29326875|PMID:29352562|PMID:32769498|PMID:33223529|PMID:6711564|PMID:7611293|PMID:7635485|PMID:8803779|PMID:8940271|PMID:9708897|PMID:9864922
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9000343	Vision Disorders		ISO	RGD:737316	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:10338090|PMID:10408774|PMID:11359213|PMID:11535567|PMID:12686134|PMID:14722927|PMID:14739681|PMID:16307898|PMID:16479318|PMID:17069888|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:20567906|PMID:22069143|PMID:22267502|PMID:22612060|PMID:22985361|PMID:25087612|PMID:25331909|PMID:25741868|PMID:27959664|PMID:28097321|PMID:28492532|PMID:32232970|PMID:33868930|PMID:34426522|PMID:3746065|PMID:7762555|PMID:8353501|PMID:9587029
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9001224	Striae Distensae		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:11553052|PMID:12686134|PMID:22267502|PMID:25741868|PMID:28492532
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	ISO	RGD:2287	D	RGD:9068941	20240210	RGD		mRNA:altered expression:hippocampus|hypothalamus (rat)	PMID:26180184|REF_RGD_ID:11074449
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9001510	Funnel Chest		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:11553052|PMID:12686134|PMID:22267502|PMID:25741868|PMID:28492532
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:10363126|PMID:11204591|PMID:19906435|PMID:20601281|PMID:22002135|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7762555|PMID:8940271|PMID:8940285|PMID:9361025|PMID:9813456
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9002189	High Myopia		ISO	RGD:737316	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:10328723|PMID:10338090|PMID:10364517|PMID:10807759|PMID:11230183|PMID:11359213|PMID:11434706|PMID:1301198|PMID:14722927|PMID:15146473|PMID:16375773|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18805305|PMID:19819175|PMID:20506325|PMID:2056790|PMID:20567906|PMID:21520339|PMID:22069143|PMID:22267502|PMID:23592311|PMID:24033266|PMID:24211323|PMID:25218699|PMID:25516723|PMID:25741868|PMID:26750749|PMID:28492532|PMID:29326875|PMID:29352562|PMID:32769498|PMID:33223529|PMID:6711564|PMID:7611293|PMID:7635485|PMID:8803779|PMID:8940271|PMID:9708897|PMID:9864922
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9002785	Vitamin B Deficiency		ISO	RGD:2287	D	RGD:9068941	20251218	RGD		protein:decreased activity:liver	PMID:15845641|REF_RGD_ID:1359026
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9003619	Homocystinuria, Pyridoxine-Responsive		ISO	RGD:737316	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-responsive	PMID:10328723|PMID:10338090|PMID:10364517|PMID:10408774|PMID:10807759|PMID:11230183|PMID:11359213|PMID:11434706|PMID:11535567|PMID:12686134|PMID:1301198|PMID:14722927|PMID:14739681|PMID:15146473|PMID:16307898|PMID:16375773|PMID:16479318|PMID:17069888|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18805305|PMID:19819175|PMID:20066033|PMID:20308073|PMID:20455263|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:21520339|PMID:22069143|PMID:22267502|PMID:22612060|PMID:22985361|PMID:23592311|PMID:24033266|PMID:24211323|PMID:25087612|PMID:25218699|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26750749|PMID:27959664|PMID:28097321|PMID:28492532|PMID:29326875|PMID:29352562|PMID:32232970|PMID:32769498|PMID:33223529|PMID:33868930|PMID:34426522|PMID:3746065|PMID:37949228|PMID:38039006|PMID:6711564|PMID:7611293|PMID:7635485|PMID:7762555|PMID:8353501|PMID:8803779|PMID:8940271|PMID:8990018|PMID:9587029|PMID:9708897|PMID:9864922
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deep venous thrombosis	PMID:25741868
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9004201	Ectopia Lentis		ISO	RGD:737316	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ectopia lentis	PMID:10328723|PMID:10338090|PMID:10364517|PMID:10807759|PMID:11230183|PMID:11359213|PMID:11434706|PMID:1301198|PMID:14722927|PMID:15146473|PMID:16375773|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18805305|PMID:19819175|PMID:20506325|PMID:2056790|PMID:20567906|PMID:21520339|PMID:22069143|PMID:22267502|PMID:23592311|PMID:24033266|PMID:24211323|PMID:25218699|PMID:25516723|PMID:25741868|PMID:26750749|PMID:28492532|PMID:29326875|PMID:29352562|PMID:32769498|PMID:33223529|PMID:6711564|PMID:7611293|PMID:7635485|PMID:8803779|PMID:8940271|PMID:9708897|PMID:9864922
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9004484	Sepsis	susceptibility	ISO	RGD:737316	D	RGD:9068941	20210108	RGD		DNA:SNP:intron (rs6586282, rs34758144) (human)	PMID:26508567|REF_RGD_ID:40903018
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9004866	Ataxia		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:10363126|PMID:11204591|PMID:19906435|PMID:20601281|PMID:22002135|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7762555|PMID:8940271|PMID:8940285|PMID:9361025|PMID:9813456
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9005560	Congenital Hip Dislocation		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hip dislocation	PMID:10363126|PMID:11204591|PMID:19906435|PMID:20601281|PMID:22002135|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7762555|PMID:8940271|PMID:8940285|PMID:9361025|PMID:9813456
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:737316	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:10338090|PMID:10408774|PMID:11359213|PMID:11535567|PMID:12686134|PMID:14722927|PMID:14739681|PMID:16307898|PMID:16479318|PMID:17069888|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:20567906|PMID:22069143|PMID:22267502|PMID:22612060|PMID:22985361|PMID:25087612|PMID:25331909|PMID:25741868|PMID:27959664|PMID:28097321|PMID:28492532|PMID:32232970|PMID:33868930|PMID:34426522|PMID:3746065|PMID:7762555|PMID:8353501|PMID:9587029
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2287	D	RGD:9068941	20251218	RGD		mRNA, protein:increased expression, increased enzyme activity:liver	PMID:12198128|REF_RGD_ID:634704
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9005695	Malnutrition		ISO	RGD:737316	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16709328
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9005729	Chronic Experimental Pancreatitis		ISO	RGD:2287	D	RGD:9068941	20210108	RGD		protein:increased expression:arcuate nucleus (rat)	PMID:27778022|REF_RGD_ID:38456012
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9005930	Endotoxemia		ISO	RGD:10297	D	RGD:9068941	20210108	RGD			PMID:27748832|REF_RGD_ID:40903019
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9005930	Endotoxemia		ISO	RGD:2287	D	RGD:9068941	20210108	RGD		mRNA:increased expression:liver (rat)	PMID:16100527|REF_RGD_ID:40903049
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9005930	Endotoxemia	severity	ISO	RGD:10297	D	RGD:9068941	20210108	RGD			PMID:24702258|REF_RGD_ID:40903035
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9005930	Endotoxemia	severity	ISO	RGD:10297	D	RGD:9068941	20210108	RGD		Protein:increased expression:spleen, lung (mouse)	PMID:27748832|REF_RGD_ID:40903019
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9007651	Chronic Bronchitis		ISO	RGD:737316	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Chronic bronchitis	PMID:10328723|PMID:10338090|PMID:10364517|PMID:10807759|PMID:11230183|PMID:11359213|PMID:11434706|PMID:1301198|PMID:14722927|PMID:15146473|PMID:16375773|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18805305|PMID:19819175|PMID:20506325|PMID:2056790|PMID:20567906|PMID:21520339|PMID:22069143|PMID:22267502|PMID:23592311|PMID:24033266|PMID:24211323|PMID:25218699|PMID:25516723|PMID:25741868|PMID:26750749|PMID:28492532|PMID:29326875|PMID:29352562|PMID:32769498|PMID:33223529|PMID:6711564|PMID:7611293|PMID:7635485|PMID:8803779|PMID:8940271|PMID:9708897|PMID:9864922
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:10363126|PMID:11204591|PMID:19906435|PMID:20601281|PMID:22002135|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7762555|PMID:8940271|PMID:8940285|PMID:9361025|PMID:9813456
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9263	homocystinuria		ISO	RGD:737316	D	RGD:7240710	20180130	OMIM			
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9263	homocystinuria		ISO	RGD:737316	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: CBS deficiency | ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | ClinVar Annotator: match by term: Homocystinuria | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive	PMID:10215408|PMID:10328723|PMID:10338090|PMID:10363126|PMID:10364517|PMID:10408774|PMID:10462600|PMID:10531322|PMID:10687314|PMID:10780316|PMID:10807759|PMID:11013450|PMID:11204591|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11522031|PMID:11524006|PMID:11553052|PMID:11748855|PMID:11774777|PMID:11926827|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12379655|PMID:12552044|PMID:12686134|PMID:12815602|PMID:12828591|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:15993874|PMID:16167124|PMID:16199547|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16470595|PMID:16479318|PMID:16619244|PMID:16786517|PMID:17056636|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:17601930|PMID:18194900|PMID:18201569|PMID:18280597|PMID:18423051|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19429038|PMID:19819175|PMID:19906435|PMID:19914636|PMID:20031640|PMID:20051935|PMID:20066033|PMID:20308073|PMID:20455263|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20601281|PMID:20694756|PMID:20821054|PMID:20871414|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:2152033|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22002135|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22353391|PMID:22382802|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22977242|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23812867|PMID:23934999|PMID:23974653|PMID:23981774|PMID:24033266|PMID:24138954|PMID:24211323|PMID:24613005|PMID:24990611|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25326637|PMID:25331909|PMID:25336647|PMID:25455305|PMID:25516723|PMID:25640679|PMID:25741868|PMID:25741914|PMID:25741916|PMID:25939784|PMID:26464485|PMID:26667307|PMID:26750749|PMID:26990548|PMID:27243974|PMID:27604992|PMID:27681349|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:28835823|PMID:28980096|PMID:29158550|PMID:29205322|PMID:29326875|PMID:29352562|PMID:29508359|PMID:29590070|PMID:29600437|PMID:29650765|PMID:30019023|PMID:30050925|PMID:30076350|PMID:30165906|PMID:30202406|PMID:30246729|PMID:30380942|PMID:30556376|PMID:30732165|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31240737|PMID:31279624|PMID:31301157|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:32768567|PMID:32769498|PMID:33057012|PMID:33223529|PMID:33335839|PMID:33616328|PMID:33726816|PMID:33985475|PMID:34426522|PMID:34449519|PMID:34449521|PMID:34818515|PMID:34842599|PMID:35281663|PMID:36588553|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7849717|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:8940285|PMID:8990018|PMID:9156316|PMID:9232191|PMID:9266356|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9590298|PMID:9675031|PMID:9708897|PMID:9813456|PMID:9864922|PMID:9870207|PMID:9889017
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9263	homocystinuria		ISO	RGD:737316	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: CBS deficiency | ClinVar Annotator: match by term: CBS-related condition | ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | ClinVar Annotator: match by term: Homocystinuria | ClinVar Annotator: match by term: Homocystinuria due to CBS deficiency | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive	PMID:10215408|PMID:10328723|PMID:10338090|PMID:10363126|PMID:10364517|PMID:10408774|PMID:10462600|PMID:10531322|PMID:10687314|PMID:10780316|PMID:10807759|PMID:11013450|PMID:11204591|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11483494|PMID:11522031|PMID:11524006|PMID:11553052|PMID:11748855|PMID:11774777|PMID:11926827|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12379655|PMID:12552044|PMID:12686134|PMID:12815602|PMID:12828591|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:15993874|PMID:16167124|PMID:16199547|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16470595|PMID:16479318|PMID:16619244|PMID:16786517|PMID:17056636|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:17601930|PMID:18194900|PMID:18201569|PMID:18280597|PMID:18423051|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19429038|PMID:19819175|PMID:19906435|PMID:19914636|PMID:20031640|PMID:20051935|PMID:20066033|PMID:20308073|PMID:20455263|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20601281|PMID:20694756|PMID:20821054|PMID:20871414|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:2152033|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22002135|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22353391|PMID:22382802|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22977242|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23812867|PMID:23934999|PMID:23974653|PMID:23981774|PMID:24033266|PMID:24138954|PMID:24211323|PMID:24613005|PMID:24990611|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25336647|PMID:25455305|PMID:25516723|PMID:25640679|PMID:25741868|PMID:25939784|PMID:26464485|PMID:26667307|PMID:26750749|PMID:26990548|PMID:27243974|PMID:27604992|PMID:27681349|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:28835823|PMID:28980096|PMID:29158550|PMID:29205322|PMID:29326875|PMID:29352562|PMID:29508359|PMID:29600437|PMID:29650765|PMID:30050925|PMID:30076350|PMID:30165906|PMID:30202406|PMID:30246729|PMID:30380942|PMID:30556376|PMID:30732165|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31240737|PMID:31279624|PMID:31301157|PMID:31515488|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:32295525|PMID:32768567|PMID:32818659|PMID:33057012|PMID:33223529|PMID:33282382|PMID:33616328|PMID:33726816|PMID:33985475|PMID:34426522|PMID:34449519|PMID:34449521|PMID:34818515|PMID:34842599|PMID:35281663|PMID:36588553|PMID:36964972|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7849717|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:8940285|PMID:8990018|PMID:9156316|PMID:9232191|PMID:9266356|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9590298|PMID:9675031|PMID:9708897|PMID:9813456|PMID:9864922|PMID:9870207|PMID:9889017
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9263	homocystinuria		ISO	RGD:737316	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CBS-related condition | ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | ClinVar Annotator: match by term: Homocystinuria | ClinVar Annotator: match by term: Homocystinuria due to CBS deficiency | ClinVar Annotator: match by term: Homocystinuria due to cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive	PMID:10215408|PMID:10328723|PMID:10338090|PMID:10363126|PMID:10364517|PMID:10408774|PMID:10462600|PMID:10531322|PMID:10687314|PMID:10780316|PMID:10807759|PMID:11013450|PMID:11204591|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11522031|PMID:11524006|PMID:11535567|PMID:11553052|PMID:11748855|PMID:11774777|PMID:11926827|PMID:12007221|PMID:12124992|PMID:12686134|PMID:12815602|PMID:12828591|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15146473|PMID:15192637|PMID:1520339|PMID:15365998|PMID:15494741|PMID:15993874|PMID:16167124|PMID:16199547|PMID:16205833|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16470595|PMID:16479318|PMID:16619244|PMID:16786517|PMID:17056636|PMID:17069888|PMID:17072863|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:17601930|PMID:18194900|PMID:18201569|PMID:18280597|PMID:18423051|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19261122|PMID:19370759|PMID:19429038|PMID:19819175|PMID:19906435|PMID:19914636|PMID:20051935|PMID:20066033|PMID:20308073|PMID:20455263|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20601281|PMID:20694756|PMID:20821054|PMID:20871414|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:2152033|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22002135|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22353391|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22977242|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23812867|PMID:23934999|PMID:23974653|PMID:23981774|PMID:24033266|PMID:24138954|PMID:24211323|PMID:24613005|PMID:25044645|PMID:25087612|PMID:25218699|PMID:25331909|PMID:25336647|PMID:25455305|PMID:25516723|PMID:25638462|PMID:25640679|PMID:25689098|PMID:25741868|PMID:25939784|PMID:26464485|PMID:26667307|PMID:26750749|PMID:27243974|PMID:27604992|PMID:27681349|PMID:27959664|PMID:28097321|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28835823|PMID:28980096|PMID:29247206|PMID:29326875|PMID:29352562|PMID:29508359|PMID:29514022|PMID:29600437|PMID:30076350|PMID:30202406|PMID:30246729|PMID:30556376|PMID:30732165|PMID:30838026|PMID:30853492|PMID:30873612|PMID:31240166|PMID:31240737|PMID:31301157|PMID:32000841|PMID:32232970|PMID:32245022|PMID:32768567|PMID:32769498|PMID:32818659|PMID:33057012|PMID:33223529|PMID:33335839|PMID:33616328|PMID:33726816|PMID:33844962|PMID:33868930|PMID:34342182|PMID:34426522|PMID:34449519|PMID:34449521|PMID:34818515|PMID:34842599|PMID:34905667|PMID:35281663|PMID:35658358|PMID:36065636|PMID:36541592|PMID:36787440|PMID:36964972|PMID:3746065|PMID:37718464|PMID:38070950|PMID:38563463|PMID:38563533|PMID:38886735|PMID:39041895|PMID:39322052|PMID:39839200|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7849717|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:8940285|PMID:8990018|PMID:9156316|PMID:9232191|PMID:9266356|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9590298|PMID:9675031|PMID:9708897|PMID:9813456|PMID:9864922|PMID:9870207|PMID:9889017
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:10297	D	RGD:9068941	20260521	MouseDO		OMIM:603174	
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:2287	D	RGD:9068941	20260521	RGD		mRNA:decreased expression, protein:decreased expression	PMID:16636197|REF_RGD_ID:1600624
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:737316	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:17292331|PMID:19028542|PMID:19204075
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9279	hyperhomocysteinemia	susceptibility	ISO	RGD:737316	D	RGD:9068941	20210108	RGD		associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human)	PMID:10704624|REF_RGD_ID:40903036
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737316	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23665415
8789735	Cbs	cystathionine beta-synthase	gene	DOID:936	brain disease		ISO	RGD:737316	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:10328723|PMID:10338090|PMID:10364517|PMID:10807759|PMID:11230183|PMID:11359213|PMID:11434706|PMID:1301198|PMID:14722927|PMID:15146473|PMID:16375773|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18805305|PMID:19819175|PMID:20506325|PMID:2056790|PMID:20567906|PMID:21520339|PMID:22069143|PMID:22267502|PMID:23592311|PMID:24033266|PMID:24211323|PMID:25218699|PMID:25516723|PMID:25741868|PMID:26750749|PMID:28492532|PMID:29326875|PMID:29352562|PMID:32769498|PMID:33223529|PMID:6711564|PMID:7611293|PMID:7635485|PMID:8803779|PMID:8940271|PMID:9708897|PMID:9864922
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:737316	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:10338090|PMID:10408774|PMID:11359213|PMID:11535567|PMID:12686134|PMID:14722927|PMID:14739681|PMID:16307898|PMID:16479318|PMID:17069888|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:20567906|PMID:22069143|PMID:22267502|PMID:22612060|PMID:22985361|PMID:25087612|PMID:25331909|PMID:25741868|PMID:27959664|PMID:28097321|PMID:28492532|PMID:32232970|PMID:33868930|PMID:34426522|PMID:3746065|PMID:7762555|PMID:8353501|PMID:9587029
8789735	Cbs	cystathionine beta-synthase	gene	DOID:9778	irritable bowel syndrome	severity	ISO	RGD:10297	D	RGD:9068941	20210108	RGD			PMID:27472293|REF_RGD_ID:40903054
8789782	LOC102008188	core histone macro-H2A.1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:736206	D	RGD:9068941	20220825	MouseDO		OMIM:614286	
8789782	LOC102008188	core histone macro-H2A.1	gene	DOID:10534	stomach cancer		ISO	RGD:731902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8789782	LOC102008188	core histone macro-H2A.1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8789782	LOC102008188	core histone macro-H2A.1	gene	DOID:4362	cervical cancer		ISO	RGD:731902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8789782	LOC102008188	core histone macro-H2A.1	gene	DOID:5041	esophageal cancer		ISO	RGD:731902	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8789782	LOC102008188	core histone macro-H2A.1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789782	LOC102008188	core histone macro-H2A.1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789782	LOC102008188	core histone macro-H2A.1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731902	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
8789802	Ddx60	DExD/H-box helicase 60	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8789802	Ddx60	DExD/H-box helicase 60	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789802	Ddx60	DExD/H-box helicase 60	gene	DOID:10283	prostate cancer		ISO	RGD:1604355	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
8789802	Ddx60	DExD/H-box helicase 60	gene	DOID:10534	stomach cancer		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8789802	Ddx60	DExD/H-box helicase 60	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8789802	Ddx60	DExD/H-box helicase 60	gene	DOID:1115	sarcoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8789802	Ddx60	DExD/H-box helicase 60	gene	DOID:1324	lung cancer		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8789802	Ddx60	DExD/H-box helicase 60	gene	DOID:1909	melanoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8789802	Ddx60	DExD/H-box helicase 60	gene	DOID:2394	ovarian cancer		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8789802	Ddx60	DExD/H-box helicase 60	gene	DOID:4362	cervical cancer		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8789802	Ddx60	DExD/H-box helicase 60	gene	DOID:5041	esophageal cancer		ISO	RGD:1604355	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8789802	Ddx60	DExD/H-box helicase 60	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789802	Ddx60	DExD/H-box helicase 60	gene	DOID:6039	uveal melanoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8789802	Ddx60	DExD/H-box helicase 60	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8789802	Ddx60	DExD/H-box helicase 60	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8789802	Ddx60	DExD/H-box helicase 60	gene	DOID:9001488	Human Influenza		ISO	RGD:1604355	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
8789802	Ddx60	DExD/H-box helicase 60	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789802	Ddx60	DExD/H-box helicase 60	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8789846	Fndc8	fibronectin type III domain containing 8	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603304	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4	
8789859	Ivl	involucrin	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1314662	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18572023
8789859	Ivl	involucrin	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1314662	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18572023
8789865	Prmt9	protein arginine methyltransferase 9	gene	DOID:0061294	Meckel syndrome 9		ISO	RGD:1601836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meckel syndrome, type 9	PMID:25741868
8789865	Prmt9	protein arginine methyltransferase 9	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1601836	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
8789865	Prmt9	protein arginine methyltransferase 9	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1314612	D	RGD:9068941	20250327	RGD		mRNA:decreased expression:nucleus accumbens (mouse)	PMID:27506785|REF_RGD_ID:11561325
8789881	Plpbp	pyridoxal phosphate binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8789881	Plpbp	pyridoxal phosphate binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789881	Plpbp	pyridoxal phosphate binding protein	gene	DOID:0080768	pyridoxine-dependent epilepsy		ISO	RGD:1319041	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8789881	Plpbp	pyridoxal phosphate binding protein	gene	DOID:0080769	early-onset vitamin B6-dependent epilepsy 1		ISO	RGD:1319041	D	RGD:7240710	20190315	OMIM			
8789881	Plpbp	pyridoxal phosphate binding protein	gene	DOID:0080769	early-onset vitamin B6-dependent epilepsy 1		ISO	RGD:1319041	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: EPILEPSY, EARLY-ONSET, 1, VITAMIN B6-DEPENDENT | ClinVar Annotator: match by term: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT | ClinVar Annotator: match by term: Epilepsy, early-onset, vitamin B6-dependent | ClinVar Annotator: match by term: PLPBP-related condition	PMID:16199547|PMID:25741868|PMID:27912044|PMID:28391250|PMID:28492532|PMID:28914444|PMID:29689137|PMID:30160830|PMID:30525118|PMID:31737911|PMID:31741821|PMID:33728241|PMID:33766999|PMID:33977028
8789881	Plpbp	pyridoxal phosphate binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1319041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8789881	Plpbp	pyridoxal phosphate binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8789881	Plpbp	pyridoxal phosphate binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1319041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8789881	Plpbp	pyridoxal phosphate binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8789881	Plpbp	pyridoxal phosphate binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1319041	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8789881	Plpbp	pyridoxal phosphate binding protein	gene	DOID:630	genetic disease		ISO	RGD:1319041	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8789881	Plpbp	pyridoxal phosphate binding protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8789881	Plpbp	pyridoxal phosphate binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789881	Plpbp	pyridoxal phosphate binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8789901	Alkbh6	alkB homolog 6, nucleotide demethylase	gene	DOID:1324	lung cancer		ISO	RGD:1605913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8789901	Alkbh6	alkB homolog 6, nucleotide demethylase	gene	DOID:3070	high grade glioma		ISO	RGD:1605913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8789901	Alkbh6	alkB homolog 6, nucleotide demethylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789901	Alkbh6	alkB homolog 6, nucleotide demethylase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789921	Mag	myelin associated glycoprotein	gene	DOID:0050256	angiostrongyliasis	disease_progression	ISO	RGD:736776	D	RGD:9068941	20200609	RGD			PMID:20399564|REF_RGD_ID:27226693
8789921	Mag	myelin associated glycoprotein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532|PMID:28832565|PMID:31402626|PMID:32629324|PMID:34426522
8789921	Mag	myelin associated glycoprotein	gene	DOID:0080395	orofacial cleft 1		ISO	RGD:732303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft 1	PMID:25741868
8789921	Mag	myelin associated glycoprotein	gene	DOID:0110820	hereditary spastic paraplegia 75		ISO	RGD:732303	D	RGD:7240710	20180130	OMIM			
8789921	Mag	myelin associated glycoprotein	gene	DOID:0110820	hereditary spastic paraplegia 75		ISO	RGD:732303	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 75, autosomal recessive	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:28832565|PMID:31227335|PMID:31402626|PMID:32629324|PMID:34426522|PMID:9536098
8789921	Mag	myelin associated glycoprotein	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:3035	D	RGD:9068941	20200609	RGD			PMID:17705198|REF_RGD_ID:9685295
8789921	Mag	myelin associated glycoprotein	gene	DOID:12217	Lewy body dementia		ISO	RGD:732303	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276553
8789921	Mag	myelin associated glycoprotein	gene	DOID:1324	lung cancer		ISO	RGD:732303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8789921	Mag	myelin associated glycoprotein	gene	DOID:14330	Parkinson's disease		ISO	RGD:732303	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276553
8789921	Mag	myelin associated glycoprotein	gene	DOID:2377	multiple sclerosis		ISO	RGD:732303	D	RGD:9068941	20200609	RGD			PMID:2419505|REF_RGD_ID:9685292
8789921	Mag	myelin associated glycoprotein	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:732303	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:28492532|PMID:28832565|PMID:31402626|PMID:32629324|PMID:34426522
8789921	Mag	myelin associated glycoprotein	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:3035	D	RGD:9068941	20200609	RGD			PMID:15678116|REF_RGD_ID:9685232
8789921	Mag	myelin associated glycoprotein	gene	DOID:573	nerve compression syndrome		ISO	RGD:3035	D	RGD:9068941	20200609	RGD			PMID:16764860|REF_RGD_ID:9685296
8789921	Mag	myelin associated glycoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789921	Mag	myelin associated glycoprotein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8789921	Mag	myelin associated glycoprotein	gene	DOID:630	genetic disease		ISO	RGD:732303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8789921	Mag	myelin associated glycoprotein	gene	DOID:9000998	Brain Injuries	susceptibility	ISO	RGD:3035	D	RGD:9068941	20200609	RGD			PMID:17156367|REF_RGD_ID:9685230
8789921	Mag	myelin associated glycoprotein	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:3035	D	RGD:9068941	20200609	RGD			PMID:12730963|REF_RGD_ID:9685301
8789921	Mag	myelin associated glycoprotein	gene	DOID:9006973	Acute Experimental Autoimmune Encephalomyelitis		ISO	RGD:3035	D	RGD:9068941	20200609	RGD		protein:decreased expression:optic nerve	PMID:9820787|REF_RGD_ID:9685300
8789943	Stk17a	serine/threonine kinase 17a	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789943	Stk17a	serine/threonine kinase 17a	gene	DOID:10534	stomach cancer		ISO	RGD:1342550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8789943	Stk17a	serine/threonine kinase 17a	gene	DOID:3275	thymoma		ISO	RGD:1342550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8789953	L3mbtl2	L3MBTL histone methyl-lysine binding protein 2	gene	DOID:0050902	medulloblastoma		ISO	RGD:1318418	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
8789953	L3mbtl2	L3MBTL histone methyl-lysine binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789953	L3mbtl2	L3MBTL histone methyl-lysine binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8789953	L3mbtl2	L3MBTL histone methyl-lysine binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1318418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8789953	L3mbtl2	L3MBTL histone methyl-lysine binding protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8789953	L3mbtl2	L3MBTL histone methyl-lysine binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:1318418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8789953	L3mbtl2	L3MBTL histone methyl-lysine binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8789974	Trpc4ap	transient receptor potential cation channel subfamily C member 4 associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8789974	Trpc4ap	transient receptor potential cation channel subfamily C member 4 associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789974	Trpc4ap	transient receptor potential cation channel subfamily C member 4 associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8789974	Trpc4ap	transient receptor potential cation channel subfamily C member 4 associated protein	gene	DOID:1324	lung cancer		ISO	RGD:1320513	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8789974	Trpc4ap	transient receptor potential cation channel subfamily C member 4 associated protein	gene	DOID:1909	melanoma		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8789974	Trpc4ap	transient receptor potential cation channel subfamily C member 4 associated protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8789974	Trpc4ap	transient receptor potential cation channel subfamily C member 4 associated protein	gene	DOID:3275	thymoma		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8789974	Trpc4ap	transient receptor potential cation channel subfamily C member 4 associated protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8789974	Trpc4ap	transient receptor potential cation channel subfamily C member 4 associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8789974	Trpc4ap	transient receptor potential cation channel subfamily C member 4 associated protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1320513	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8789974	Trpc4ap	transient receptor potential cation channel subfamily C member 4 associated protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8789974	Trpc4ap	transient receptor potential cation channel subfamily C member 4 associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8789974	Trpc4ap	transient receptor potential cation channel subfamily C member 4 associated protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8789974	Trpc4ap	transient receptor potential cation channel subfamily C member 4 associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8789974	Trpc4ap	transient receptor potential cation channel subfamily C member 4 associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8789974	Trpc4ap	transient receptor potential cation channel subfamily C member 4 associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8789974	Trpc4ap	transient receptor potential cation channel subfamily C member 4 associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8789999	Zic1	Zic family zinc finger 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:735695	D	RGD:9068941	20220825	MouseDO			
8789999	Zic1	Zic family zinc finger 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8789999	Zic1	Zic family zinc finger 1	gene	DOID:0061008	craniosynostosis 6		ISO	RGD:735694	D	RGD:7240710	20180130	OMIM			
8789999	Zic1	Zic family zinc finger 1	gene	DOID:0061008	craniosynostosis 6		ISO	RGD:735694	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Craniosynostosis 6 | ClinVar Annotator: match by term: ZIC1-related condition	PMID:25741868|PMID:28492532
8789999	Zic1	Zic family zinc finger 1	gene	DOID:0070297	primary microcephaly		ISO	RGD:735694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	
8789999	Zic1	Zic family zinc finger 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:735694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	
8789999	Zic1	Zic family zinc finger 1	gene	DOID:0080708	medulloblastoma non-WNT/non-SHH group 4		ISO	RGD:735694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 4	PMID:27993330
8789999	Zic1	Zic family zinc finger 1	gene	DOID:1059	intellectual disability		ISO	RGD:735694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8789999	Zic1	Zic family zinc finger 1	gene	DOID:10907	microcephaly		ISO	RGD:735694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
8789999	Zic1	Zic family zinc finger 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:735694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
8789999	Zic1	Zic family zinc finger 1	gene	DOID:11830	myopia		ISO	RGD:735694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
8789999	Zic1	Zic family zinc finger 1	gene	DOID:2340	craniosynostosis		ISO	RGD:735694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:25741868
8789999	Zic1	Zic family zinc finger 1	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:735694	D	RGD:9068941	20200609	RGD			PMID:15338008|REF_RGD_ID:1599905
8789999	Zic1	Zic family zinc finger 1	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:735695	D	RGD:9068941	20220825	MouseDO		OMIM:220200	
8789999	Zic1	Zic family zinc finger 1	gene	DOID:540	strabismus		ISO	RGD:735694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
8789999	Zic1	Zic family zinc finger 1	gene	DOID:630	genetic disease		ISO	RGD:735694	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:27884935|PMID:28492532
8789999	Zic1	Zic family zinc finger 1	gene	DOID:8927	learning disability		ISO	RGD:735694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
8789999	Zic1	Zic family zinc finger 1	gene	DOID:9002109	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS		ISO	RGD:735694	D	RGD:7240710	20200226	OMIM			
8789999	Zic1	Zic family zinc finger 1	gene	DOID:9002109	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS		ISO	RGD:735694	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS | ClinVar Annotator: match by term: Structural brain anomalies with impaired intellectual development and craniosynostosis	PMID:25741868
8789999	Zic1	Zic family zinc finger 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:735694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
8789999	Zic1	Zic family zinc finger 1	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:735694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	
8789999	Zic1	Zic family zinc finger 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:735694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8789999	Zic1	Zic family zinc finger 1	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:735694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain insensitivity	
8789999	Zic1	Zic family zinc finger 1	gene	DOID:9834	hyperopia		ISO	RGD:735694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
8790007	Aqp9	aquaporin 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8790007	Aqp9	aquaporin 9	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:735505	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8790007	Aqp9	aquaporin 9	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:735505	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23563754
8790007	Aqp9	aquaporin 9	gene	DOID:10534	stomach cancer		ISO	RGD:735505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8790007	Aqp9	aquaporin 9	gene	DOID:1115	sarcoma		ISO	RGD:735505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8790007	Aqp9	aquaporin 9	gene	DOID:1240	leukemia		ISO	RGD:735505	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15336539
8790007	Aqp9	aquaporin 9	gene	DOID:5041	esophageal cancer		ISO	RGD:735505	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8790007	Aqp9	aquaporin 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790007	Aqp9	aquaporin 9	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:735505	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8790007	Aqp9	aquaporin 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8790007	Aqp9	aquaporin 9	gene	DOID:9005968	Neuralgia	ameliorates	ISO	RGD:68433	D	RGD:9068941	20220623	RGD			PMID:31746418|REF_RGD_ID:152995474
8790007	Aqp9	aquaporin 9	gene	DOID:9006854	MPTP Poisoning		ISO	RGD:735505	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:29566083
8790007	Aqp9	aquaporin 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790007	Aqp9	aquaporin 9	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:735505	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19805235
8790007	Aqp9	aquaporin 9	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:68433	D	RGD:9068941	20200609	RGD			PMID:20216911|REF_RGD_ID:2326035
8790007	Aqp9	aquaporin 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735505	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16968895
8790032	Suds3	SIN3A corepressor complex component SDS3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8790032	Suds3	SIN3A corepressor complex component SDS3	gene	DOID:4362	cervical cancer		ISO	RGD:1605050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8790032	Suds3	SIN3A corepressor complex component SDS3	gene	DOID:5041	esophageal cancer		ISO	RGD:1605050	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8790032	Suds3	SIN3A corepressor complex component SDS3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790032	Suds3	SIN3A corepressor complex component SDS3	gene	DOID:6039	uveal melanoma		ISO	RGD:1605050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8790032	Suds3	SIN3A corepressor complex component SDS3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8790032	Suds3	SIN3A corepressor complex component SDS3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790032	Suds3	SIN3A corepressor complex component SDS3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8790057	Wdr24	WD repeat domain 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8790057	Wdr24	WD repeat domain 24	gene	DOID:10534	stomach cancer		ISO	RGD:1344935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8790057	Wdr24	WD repeat domain 24	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8790057	Wdr24	WD repeat domain 24	gene	DOID:1324	lung cancer		ISO	RGD:1344935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8790057	Wdr24	WD repeat domain 24	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8790057	Wdr24	WD repeat domain 24	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8790087	Abhd17b	abhydrolase domain containing 17B, depalmitoylase	gene	DOID:1115	sarcoma		ISO	RGD:1313162	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8790087	Abhd17b	abhydrolase domain containing 17B, depalmitoylase	gene	DOID:4362	cervical cancer		ISO	RGD:1313162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8790087	Abhd17b	abhydrolase domain containing 17B, depalmitoylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790087	Abhd17b	abhydrolase domain containing 17B, depalmitoylase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8790109	Tekt3	tektin 3	gene	DOID:0070580	spermatogenic failure 81		ISO	RGD:1321573	D	RGD:7240710	20230505	OMIM			
8790109	Tekt3	tektin 3	gene	DOID:0070580	spermatogenic failure 81		ISO	RGD:1321573	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 81 | ClinVar Annotator: match by term: Spermatogenic failure 81	PMID:25741868
8790109	Tekt3	tektin 3	gene	DOID:1324	lung cancer		ISO	RGD:1321573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8790109	Tekt3	tektin 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8790109	Tekt3	tektin 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8790126	Lin37	lin-37 DREAM MuvB core complex component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8790126	Lin37	lin-37 DREAM MuvB core complex component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8790126	Lin37	lin-37 DREAM MuvB core complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790126	Lin37	lin-37 DREAM MuvB core complex component	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8790126	Lin37	lin-37 DREAM MuvB core complex component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790126	Lin37	lin-37 DREAM MuvB core complex component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8790149	Rpl22l1	ribosomal protein L22 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8790149	Rpl22l1	ribosomal protein L22 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1602286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8790149	Rpl22l1	ribosomal protein L22 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1602286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8790149	Rpl22l1	ribosomal protein L22 like 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8790149	Rpl22l1	ribosomal protein L22 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790149	Rpl22l1	ribosomal protein L22 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8790166	Cep44	centrosomal protein 44	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8790166	Cep44	centrosomal protein 44	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8790166	Cep44	centrosomal protein 44	gene	DOID:0060058	lymphoma		ISO	RGD:1318333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8790166	Cep44	centrosomal protein 44	gene	DOID:10534	stomach cancer		ISO	RGD:1318333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8790166	Cep44	centrosomal protein 44	gene	DOID:3070	high grade glioma		ISO	RGD:1318333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8790166	Cep44	centrosomal protein 44	gene	DOID:5041	esophageal cancer		ISO	RGD:1318333	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8790185	Entrep3	endosomal transmembrane epsin interactor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8790185	Entrep3	endosomal transmembrane epsin interactor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8790185	Entrep3	endosomal transmembrane epsin interactor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8790185	Entrep3	endosomal transmembrane epsin interactor 3	gene	DOID:1324	lung cancer		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8790185	Entrep3	endosomal transmembrane epsin interactor 3	gene	DOID:1909	melanoma		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8790185	Entrep3	endosomal transmembrane epsin interactor 3	gene	DOID:3275	thymoma		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8790185	Entrep3	endosomal transmembrane epsin interactor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8790185	Entrep3	endosomal transmembrane epsin interactor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790185	Entrep3	endosomal transmembrane epsin interactor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8790185	Entrep3	endosomal transmembrane epsin interactor 3	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1314529	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor	PMID:28492532
8790201	Tcp11l1	t-complex 11 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8790201	Tcp11l1	t-complex 11 like 1	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1602322	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Exstrophy-epispadias complex	PMID:25741868
8790201	Tcp11l1	t-complex 11 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8790201	Tcp11l1	t-complex 11 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1602322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8790201	Tcp11l1	t-complex 11 like 1	gene	DOID:3275	thymoma		ISO	RGD:1602322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8790201	Tcp11l1	t-complex 11 like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8790201	Tcp11l1	t-complex 11 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790230	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8790230	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa	PMID:23105016|PMID:26355662|PMID:28492532
8790230	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8790230	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:1115	sarcoma		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8790230	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:1324	lung cancer		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8790230	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:3275	thymoma		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8790230	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8790230	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:5041	esophageal cancer		ISO	RGD:1312627	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8790230	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:5723	optic atrophy		ISO	RGD:1312627	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8790230	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790230	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:8501	fundus dystrophy		ISO	RGD:1312627	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532|PMID:28714225|PMID:30718709
8790230	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8790230	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790230	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8790230	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8790255	Tor3a	torsin family 3 member A	gene	DOID:4362	cervical cancer		ISO	RGD:1320812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8790255	Tor3a	torsin family 3 member A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8790255	Tor3a	torsin family 3 member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1320812	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8790255	Tor3a	torsin family 3 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790255	Tor3a	torsin family 3 member A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8790255	Tor3a	torsin family 3 member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790286	Art4	ADP-ribosyltransferase 4 (inactive) (Dombrock blood group)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8790286	Art4	ADP-ribosyltransferase 4 (inactive) (Dombrock blood group)	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315084	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8790286	Art4	ADP-ribosyltransferase 4 (inactive) (Dombrock blood group)	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8790293	Flnc	filamin C	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy	PMID:25741868|PMID:28492532|PMID:32112656|PMID:34587765|PMID:37164047|PMID:38761081
8790293	Flnc	filamin C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25351925|PMID:25741868|PMID:28492532|PMID:30418145|PMID:30919686
8790293	Flnc	filamin C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:16199547|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25741868|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27908349|PMID:28356264|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28781516|PMID:28866788|PMID:29706348|PMID:30086531|PMID:30411535|PMID:30418145|PMID:30847666|PMID:30919686|PMID:30996762|PMID:31245841|PMID:32112656|PMID:34411373|PMID:34587765|PMID:35026164|PMID:35276540|PMID:35470680|PMID:35653365|PMID:37164047|PMID:37280362
8790293	Flnc	filamin C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:16199547|PMID:17576681|PMID:24033266|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25741868|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27908349|PMID:28356264|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28781516|PMID:28866788|PMID:29235529|PMID:29706348|PMID:30086531|PMID:30411535|PMID:30418145|PMID:30847666|PMID:30919686|PMID:30996762|PMID:31245841|PMID:31627847|PMID:32112656|PMID:34411373|PMID:34587765|PMID:35026164|PMID:35276540|PMID:35470680|PMID:35653365|PMID:37164047|PMID:37280362|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:17576681|PMID:24033266|PMID:25208129|PMID:25617006|PMID:25741868|PMID:26467025|PMID:26555887|PMID:26863999|PMID:27908349|PMID:28356264|PMID:28492532|PMID:29235529|PMID:30411535|PMID:31627847|PMID:32112656|PMID:32746448|PMID:34535832|PMID:34587765|PMID:34949102|PMID:37164047|PMID:37466024|PMID:38761081|PMID:39472908|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	PMID:25741868|PMID:27908349|PMID:28492532|PMID:32112656|PMID:32746448
8790293	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:7240710	20180130	OMIM			
8790293	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myofibrillar myopathy 5	PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29030401|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32112656|PMID:32160020|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34935411|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32112656|PMID:32160020|PMID:32165824|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36264615|PMID:36286284|PMID:37280362|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:19472918|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34440373|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35140110|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36264615|PMID:36286284|PMID:37164047|PMID:37280362|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: FLNB-Related Disorders | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:19472918|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33764162|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34440373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35140110|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36264615|PMID:36286284|PMID:36788754|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37477868|PMID:37547072|PMID:37937776|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: FLNB-Related Disorders | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:19472918|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33764162|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34440373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35140110|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36252119|PMID:36264615|PMID:36286284|PMID:36788754|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37477868|PMID:37547072|PMID:37904629|PMID:37937776|PMID:38473809|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:19472918|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33764162|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34440373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35140110|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36252119|PMID:36264615|PMID:36286284|PMID:36578016|PMID:36788754|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37547072|PMID:37904629|PMID:37937776|PMID:38116480|PMID:38473809|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: FLNB-Related Disorders | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:19472918|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28213671|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29030401|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33764162|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34440373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35140110|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36252119|PMID:36264615|PMID:36286284|PMID:36575883|PMID:36578016|PMID:36788754|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37547072|PMID:37904629|PMID:37936669|PMID:37937776|PMID:38116480|PMID:38379651|PMID:38473809|PMID:38476289|PMID:38689299|PMID:38757491|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: FLNB-Related Disorders | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:19472918|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28213671|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29030401|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31069529|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33673806|PMID:33710525|PMID:33764162|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34440373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35140110|PMID:35276540|PMID:35352813|PMID:35463915|PMID:35470680|PMID:35653365|PMID:35838873|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36204818|PMID:36252119|PMID:36264615|PMID:36286284|PMID:36396199|PMID:36575883|PMID:36578016|PMID:36788754|PMID:36864778|PMID:37047781|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37547072|PMID:37904629|PMID:37936669|PMID:37937776|PMID:38002985|PMID:38116480|PMID:38379651|PMID:38473809|PMID:38476289|PMID:38689299|PMID:38757491|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: FLNB-Related Disorders | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:11977176|PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:19472918|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28213671|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:29030401|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31006259|PMID:31069529|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33673806|PMID:33710525|PMID:33764162|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34440373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35140110|PMID:35276540|PMID:35352813|PMID:35463915|PMID:35470680|PMID:35653365|PMID:35838873|PMID:35903116|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36204818|PMID:36252119|PMID:36264615|PMID:36286284|PMID:36396199|PMID:36575883|PMID:36578016|PMID:36788754|PMID:36864778|PMID:37047781|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37547072|PMID:37904629|PMID:37936669|PMID:37937776|PMID:38002985|PMID:38116480|PMID:38379651|PMID:38473809|PMID:38476289|PMID:38489124|PMID:38689299|PMID:38757491|PMID:39260623|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: FLNB-Related Disorders | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:16199547|PMID:17576681|PMID:2|PMID:2018|PMID:23109048|PMID:24033266|PMID:25208129|PMID:25617006|PMID:25741868|PMID:26467025|PMID:26555887|PMID:26863999|PMID:27574918|PMID:27601210|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28436997|PMID:28492532|PMID:28664140|PMID:29144512|PMID:29235529|PMID:29970176|PMID:30067491|PMID:30411535|PMID:30418145|PMID:30847666|PMID:31006259|PMID:31069529|PMID:31245841|PMID:31317183|PMID:31506931|PMID:31627847|PMID:31918855|PMID:32101375|PMID:32112656|PMID:32528171|PMID:32746448|PMID:33764162|PMID:33874732|PMID:34535832|PMID:34949102|PMID:35026164|PMID:35140110|PMID:35463915|PMID:36178741|PMID:36204818|PMID:36252119|PMID:36788754|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37904629|PMID:37937776|PMID:38002985|PMID:38473809|PMID:38476289|PMID:38689299|PMID:38757491|PMID:38895864|PMID:39472908|PMID:39554508|PMID:6|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: FLNB-Related Disorders | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:16199547|PMID:17576681|PMID:2|PMID:2018|PMID:23109048|PMID:24033266|PMID:25208129|PMID:25617006|PMID:25741868|PMID:26467025|PMID:26555887|PMID:26863999|PMID:27574918|PMID:27601210|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28436997|PMID:28492532|PMID:28664140|PMID:29144512|PMID:29235529|PMID:29970176|PMID:30067491|PMID:30411535|PMID:30418145|PMID:30847666|PMID:31069529|PMID:31245841|PMID:31317183|PMID:31506931|PMID:31627847|PMID:31918855|PMID:32101375|PMID:32112656|PMID:32528171|PMID:32746448|PMID:33764162|PMID:33874732|PMID:34535832|PMID:34587765|PMID:34949102|PMID:35026164|PMID:35140110|PMID:35463915|PMID:36178741|PMID:36204818|PMID:36252119|PMID:36788754|PMID:37164047|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37904629|PMID:37937776|PMID:38002985|PMID:38473809|PMID:38476289|PMID:38689299|PMID:38757491|PMID:38761081|PMID:38895864|PMID:39472908|PMID:39554508|PMID:39694818|PMID:41672210|PMID:6|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:0110327	hypertrophic cardiomyopathy 26		ISO	RGD:1318791	D	RGD:7240710	20190315	OMIM			
8790293	Flnc	filamin C	gene	DOID:0110327	hypertrophic cardiomyopathy 26		ISO	RGD:1318791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 | ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5 | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 26 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26	PMID:16199547|PMID:17576681|PMID:2|PMID:2018|PMID:23109048|PMID:24033266|PMID:25208129|PMID:25351925|PMID:25617006|PMID:25741868|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26863999|PMID:27574918|PMID:27601210|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28436997|PMID:28492532|PMID:28664140|PMID:29144512|PMID:29235529|PMID:29858533|PMID:29970176|PMID:30067491|PMID:30411535|PMID:30418145|PMID:30847666|PMID:30935706|PMID:31069529|PMID:31245841|PMID:31317183|PMID:31506931|PMID:31627847|PMID:31918855|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32528171|PMID:32746448|PMID:33764162|PMID:33874732|PMID:34535832|PMID:34587765|PMID:34949102|PMID:35026164|PMID:35140110|PMID:35463915|PMID:35653365|PMID:36178741|PMID:36204818|PMID:36252119|PMID:36286284|PMID:36788754|PMID:37164047|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37904629|PMID:37937776|PMID:38002985|PMID:38473809|PMID:38476289|PMID:38689299|PMID:38757491|PMID:38761081|PMID:38895864|PMID:39180012|PMID:39260623|PMID:39472908|PMID:39554508|PMID:39694818|PMID:41672210|PMID:6|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1318791	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	PMID:25741868
8790293	Flnc	filamin C	gene	DOID:0110443	dilated cardiomyopathy 1B		ISO	RGD:1318791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial	PMID:25741868|PMID:27908349|PMID:28492532|PMID:32112656|PMID:32746448|PMID:34587765|PMID:37164047|PMID:38761081
8790293	Flnc	filamin C	gene	DOID:0111190	distal myopathy 4		ISO	RGD:1318791	D	RGD:7240710	20180130	OMIM			
8790293	Flnc	filamin C	gene	DOID:0111190	distal myopathy 4		ISO	RGD:1318791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement | ClinVar Annotator: match by term: MYOPATHY, DISTAL, 4 | ClinVar Annotator: match by term: WILLIAMS DISTAL MYOPATHY	PMID:16199547|PMID:17576681|PMID:2|PMID:2018|PMID:21520333|PMID:23109048|PMID:24033266|PMID:25208129|PMID:25351925|PMID:25617006|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26863999|PMID:27574918|PMID:27601210|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28798025|PMID:29144512|PMID:29235529|PMID:29551499|PMID:29792937|PMID:29970176|PMID:30067491|PMID:30411535|PMID:30418145|PMID:30685713|PMID:30847666|PMID:30935706|PMID:31069529|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31506931|PMID:31627847|PMID:31918855|PMID:32101375|PMID:32112656|PMID:32528171|PMID:32746448|PMID:33764162|PMID:33874732|PMID:34411373|PMID:34440373|PMID:34535832|PMID:34587765|PMID:34949102|PMID:35026164|PMID:35140110|PMID:35352813|PMID:35463915|PMID:35903116|PMID:36178741|PMID:36204818|PMID:36252119|PMID:36286284|PMID:36788754|PMID:37164047|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37547072|PMID:37904629|PMID:37937776|PMID:38002985|PMID:38473809|PMID:38476289|PMID:38689299|PMID:38757491|PMID:38761081|PMID:38895864|PMID:39472908|PMID:39554508|PMID:39694818|PMID:41672210|PMID:6|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:0111425	familial restrictive cardiomyopathy 1		ISO	RGD:1318791	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1	PMID:28492532
8790293	Flnc	filamin C	gene	DOID:10534	stomach cancer		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:16199547|PMID:27908349|PMID:28492532
8790293	Flnc	filamin C	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:28492532
8790293	Flnc	filamin C	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532
8790293	Flnc	filamin C	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:2|PMID:2018|PMID:25741868|PMID:28492532|PMID:32112656|PMID:34535832|PMID:35026164|PMID:36252119|PMID:6
8790293	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:21520333|PMID:25741868|PMID:26436962|PMID:26666891|PMID:27908349|PMID:28356264|PMID:28492532|PMID:29858533|PMID:31245841|PMID:31627847|PMID:32112656|PMID:32603605
8790293	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29517769|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32160020|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34935411|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Cardiomyopathy, fatal infantile | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29517769|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32160020|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34935411|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29517769|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32160020|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29517769|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32160020|PMID:32165824|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:36104822|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:36104822|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20230718	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:36104822|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32165824|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:36104822|PMID:36129056|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:36104822|PMID:36129056|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36264615|PMID:36286284|PMID:37280362|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36264615|PMID:36286284|PMID:37164047|PMID:37280362|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17576681|PMID:18414213|PMID:19472918|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36264615|PMID:36286284|PMID:37164047|PMID:37280362|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19472918|PMID:21135393|PMID:21520333|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36264615|PMID:36286284|PMID:36788754|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37477868|PMID:37547072|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19472918|PMID:21135393|PMID:21520333|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31712860|PMID:31918855|PMID:31924696|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33764162|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36264615|PMID:36286284|PMID:36788754|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37477868|PMID:37547072|PMID:37937776|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19472918|PMID:21135393|PMID:21520333|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31712860|PMID:31918855|PMID:31924696|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33764162|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36252119|PMID:36264615|PMID:36286284|PMID:36788754|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37477868|PMID:37547072|PMID:37904629|PMID:37937776|PMID:38473809|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19472918|PMID:20124440|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28213671|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29030401|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31627847|PMID:31641117|PMID:31712860|PMID:31918855|PMID:31924696|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33764162|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36252119|PMID:36264615|PMID:36286284|PMID:36575883|PMID:36578016|PMID:36788754|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37547072|PMID:37904629|PMID:37936669|PMID:37937776|PMID:38116480|PMID:38379651|PMID:38473809|PMID:38476289|PMID:38689299|PMID:38757491|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Neonatal cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19472918|PMID:20124440|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28213671|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29030401|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31069529|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31627847|PMID:31641117|PMID:31712860|PMID:31918855|PMID:31924696|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33764162|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35352813|PMID:35463915|PMID:35470680|PMID:35653365|PMID:35838873|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36252119|PMID:36264615|PMID:36286284|PMID:36575883|PMID:36578016|PMID:36788754|PMID:37047781|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37547072|PMID:37904629|PMID:37936669|PMID:37937776|PMID:38002985|PMID:38116480|PMID:38379651|PMID:38473809|PMID:38476289|PMID:38489124|PMID:38689299|PMID:38757491|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11977176|PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19472918|PMID:20124440|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28213671|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:29030401|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31006259|PMID:31069529|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31627847|PMID:31641117|PMID:31712860|PMID:31918855|PMID:31924696|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32870709|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33764162|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35140110|PMID:35276540|PMID:35352813|PMID:35463915|PMID:35470680|PMID:35653365|PMID:35838873|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36252119|PMID:36264615|PMID:36286284|PMID:36575883|PMID:36578016|PMID:36788754|PMID:37047781|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37547072|PMID:37904629|PMID:37936669|PMID:37937776|PMID:38002985|PMID:38116480|PMID:38379651|PMID:38473809|PMID:38476289|PMID:38489124|PMID:38689299|PMID:38757491|PMID:39260623|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:2|PMID:20124440|PMID:2018|PMID:21620354|PMID:23109048|PMID:24033266|PMID:25208129|PMID:25617006|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26555887|PMID:26863999|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28356264|PMID:28403181|PMID:28436997|PMID:28492532|PMID:28664140|PMID:29144512|PMID:29235529|PMID:29970176|PMID:30067491|PMID:30411535|PMID:30418145|PMID:30734317|PMID:30847666|PMID:31006259|PMID:31069529|PMID:31245841|PMID:31317183|PMID:31506931|PMID:31627847|PMID:31918855|PMID:32101375|PMID:32112656|PMID:32528171|PMID:32746448|PMID:33764162|PMID:33874732|PMID:34535832|PMID:34949102|PMID:35026164|PMID:35140110|PMID:35463915|PMID:36204818|PMID:36252119|PMID:36788754|PMID:37188302|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37821546|PMID:37904629|PMID:37937776|PMID:38002985|PMID:38473809|PMID:38476289|PMID:38689299|PMID:38757491|PMID:38895864|PMID:39472908|PMID:39554508|PMID:6|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:20124440|PMID:21620354|PMID:23109048|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26555887|PMID:2781633|PMID:27908349|PMID:28008423|PMID:28166811|PMID:28492532|PMID:29235529|PMID:30734317|PMID:31627847|PMID:31918855|PMID:32112656|PMID:32746448|PMID:34535832|PMID:34949102|PMID:35026164|PMID:36252119|PMID:37188302|PMID:37461109|PMID:37821546|PMID:38473809|PMID:39472908|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular dilatation | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:20124440|PMID:21620354|PMID:23109048|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26555887|PMID:2781633|PMID:27908349|PMID:28008423|PMID:28166811|PMID:28492532|PMID:29235529|PMID:30734317|PMID:31627847|PMID:31918855|PMID:32112656|PMID:32746448|PMID:34535832|PMID:34587765|PMID:34949102|PMID:35026164|PMID:36252119|PMID:37164047|PMID:37188302|PMID:37461109|PMID:37821546|PMID:38473809|PMID:38761081|PMID:39472908|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:13620	patent foramen ovale		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type	PMID:17576681|PMID:28492532|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:1657	ventricular septal defect		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:17576681|PMID:28492532|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:3191	nemaline myopathy		ISO	RGD:1318791	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy	PMID:25741868|PMID:32607581
8790293	Flnc	filamin C	gene	DOID:3275	thymoma		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8790293	Flnc	filamin C	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1318791	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:25741868|PMID:28492532
8790293	Flnc	filamin C	gene	DOID:397	restrictive cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Restrictive cardiomyopathy	PMID:25741868|PMID:28492532
8790293	Flnc	filamin C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8790293	Flnc	filamin C	gene	DOID:5041	esophageal cancer		ISO	RGD:1318791	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532|PMID:30411535
8790293	Flnc	filamin C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790293	Flnc	filamin C	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:27908349|PMID:28492532
8790293	Flnc	filamin C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8790293	Flnc	filamin C	gene	DOID:9003760	Myalgia		ISO	RGD:1318791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868
8790293	Flnc	filamin C	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1318791	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
8790293	Flnc	filamin C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790293	Flnc	filamin C	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:1318791	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sudden infant death syndrome	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:9007033	Ventricular Premature Complexes		ISO	RGD:1318791	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Premature ventricular contraction	PMID:17576681|PMID:25741868|PMID:28492532|PMID:37937776|PMID:9536098
8790293	Flnc	filamin C	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1318791	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278247
8790365	Hoxa5	homeobox A5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:734224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22227861
8790365	Hoxa5	homeobox A5	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:734224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22227861
8790365	Hoxa5	homeobox A5	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:734224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18351244
8790371	Gabrg1	gamma-aminobutyric acid type A receptor subunit gamma1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8790371	Gabrg1	gamma-aminobutyric acid type A receptor subunit gamma1	gene	DOID:10283	prostate cancer		ISO	RGD:732733	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8790371	Gabrg1	gamma-aminobutyric acid type A receptor subunit gamma1	gene	DOID:10283	prostate cancer		ISO	RGD:732733	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8790371	Gabrg1	gamma-aminobutyric acid type A receptor subunit gamma1	gene	DOID:12098	trigeminal neuralgia		ISO	RGD:737444	D	RGD:9068941	20220825	MouseDO		OMIM:190400	
8790371	Gabrg1	gamma-aminobutyric acid type A receptor subunit gamma1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8790371	Gabrg1	gamma-aminobutyric acid type A receptor subunit gamma1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8790398	Usp15	ubiquitin specific peptidase 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8790398	Usp15	ubiquitin specific peptidase 15	gene	DOID:1115	sarcoma		ISO	RGD:733296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8790398	Usp15	ubiquitin specific peptidase 15	gene	DOID:1324	lung cancer		ISO	RGD:733296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8790398	Usp15	ubiquitin specific peptidase 15	gene	DOID:3275	thymoma		ISO	RGD:733296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8790398	Usp15	ubiquitin specific peptidase 15	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8790398	Usp15	ubiquitin specific peptidase 15	gene	DOID:4362	cervical cancer		ISO	RGD:733296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8790398	Usp15	ubiquitin specific peptidase 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790398	Usp15	ubiquitin specific peptidase 15	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:733296	D	RGD:9068941	20220414	RGD		mRNA, protein:decreased expression:PBMC (human)	PMID:31952546|REF_RGD_ID:151667904
8790398	Usp15	ubiquitin specific peptidase 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790398	Usp15	ubiquitin specific peptidase 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8790398	Usp15	ubiquitin specific peptidase 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8790398	Usp15	ubiquitin specific peptidase 15	gene	DOID:9743	diabetic neuropathy		ISO	RGD:733296	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:35478295
8790424	Mmut	methylmalonyl-CoA mutase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8790424	Mmut	methylmalonyl-CoA mutase	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1344450	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: metabolic acidosis	PMID:11528502|PMID:12402345|PMID:15643616|PMID:15781192|PMID:16281286|PMID:16435223|PMID:17113806|PMID:17957493|PMID:22727635|PMID:23430940|PMID:24059531|PMID:25125334|PMID:25741868|PMID:25771389|PMID:26318470|PMID:26454439|PMID:26615597|PMID:26790480|PMID:27167370|PMID:28492532|PMID:32754920
8790424	Mmut	methylmalonyl-CoA mutase	gene	DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency		ISO	RGD:1344450	D	RGD:7240710	20180130	OMIM			
8790424	Mmut	methylmalonyl-CoA mutase	gene	DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency		ISO	RGD:1344450	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(-) TYPE | ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(0) TYPE | ClinVar Annotator: match by term: MMUT-related condition | ClinVar Annotator: match by term: Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	PMID:10923046|PMID:11350191|PMID:11528502|PMID:12402345|PMID:1346616|PMID:1351030|PMID:15643616|PMID:15781192|PMID:15781199|PMID:16199547|PMID:16281286|PMID:16435223|PMID:16451139|PMID:16490061|PMID:1670635|PMID:17075691|PMID:17113806|PMID:17410422|PMID:17432548|PMID:17445044|PMID:17470278|PMID:17576681|PMID:17823972|PMID:17948227|PMID:17957493|PMID:17966092|PMID:19088183|PMID:19375370|PMID:1970180|PMID:1977311|PMID:19955418|PMID:20301409|PMID:20549364|PMID:20603089|PMID:21048060|PMID:21114891|PMID:21671183|PMID:22614770|PMID:22695176|PMID:22727635|PMID:23024777|PMID:23045948|PMID:23430940|PMID:23479330|PMID:23729607|PMID:24033266|PMID:24059531|PMID:24330302|PMID:24464670|PMID:2453061|PMID:24865477|PMID:25087612|PMID:25125334|PMID:25299208|PMID:25525159|PMID:25689098|PMID:25736335|PMID:25741868|PMID:25750861|PMID:25771389|PMID:25959030|PMID:26174677|PMID:26270765|PMID:26318470|PMID:26420839|PMID:26454439|PMID:26483233|PMID:2661559|PMID:26615597|PMID:26790480|PMID:27060300|PMID:27167370|PMID:27233228|PMID:27489777|PMID:27578510|PMID:27591164|PMID:27751223|PMID:27884173|PMID:28101778|PMID:28468868|PMID:28492532|PMID:28811685|PMID:2881300|PMID:28973083|PMID:29158924|PMID:29896740|PMID:30022420|PMID:30041674|PMID:30209273|PMID:30577886|PMID:30712249|PMID:30728829|PMID:31466887|PMID:31525265|PMID:31622506|PMID:31757659|PMID:31813137|PMID:31998365|PMID:32451238|PMID:32754920|PMID:32778825|PMID:33413471|PMID:34668645|PMID:35225935|PMID:35281663|PMID:35361390|PMID:36007526|PMID:36717752|PMID:38455531|PMID:7602808|PMID:7909321|PMID:7912889|PMID:7951229|PMID:8880917|PMID:8990001|PMID:9285782|PMID:9536098|PMID:9554742|PMID:9929975
8790424	Mmut	methylmalonyl-CoA mutase	gene	DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency		ISO	RGD:1344450	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY | ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(-) TYPE | ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(0) TYPE | ClinVar Annotator: match by term: MMUT-related condition | ClinVar Annotator: match by term: Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria, mut type	PMID:10923046|PMID:11350191|PMID:11528502|PMID:12402345|PMID:1346616|PMID:15643616|PMID:15781192|PMID:15781199|PMID:16199547|PMID:16281286|PMID:16435223|PMID:16451139|PMID:16490061|PMID:1670635|PMID:17075691|PMID:17113806|PMID:17432548|PMID:17445044|PMID:17470278|PMID:17576681|PMID:17948227|PMID:17957493|PMID:19088183|PMID:19375370|PMID:1970180|PMID:1977311|PMID:19955418|PMID:20549364|PMID:20603089|PMID:21048060|PMID:21114891|PMID:22614770|PMID:22695176|PMID:22727635|PMID:23024777|PMID:23045948|PMID:23430940|PMID:23479330|PMID:23729607|PMID:24033266|PMID:24059531|PMID:24330302|PMID:24464670|PMID:24865477|PMID:25087612|PMID:25125334|PMID:25299208|PMID:25326637|PMID:25525159|PMID:25689098|PMID:25741868|PMID:25750861|PMID:25959030|PMID:26077484|PMID:26174677|PMID:26270765|PMID:26318470|PMID:26420839|PMID:26454439|PMID:26483233|PMID:2661559|PMID:26615597|PMID:26790480|PMID:26827111|PMID:27060300|PMID:27167370|PMID:27233228|PMID:27489777|PMID:27578510|PMID:27591164|PMID:27751223|PMID:28101778|PMID:28468868|PMID:28492532|PMID:28811685|PMID:2881300|PMID:28973083|PMID:29158924|PMID:29896740|PMID:30022420|PMID:30041674|PMID:30209273|PMID:30577886|PMID:30712249|PMID:31130284|PMID:31466887|PMID:31501239|PMID:31525265|PMID:31622506|PMID:31757659|PMID:31792768|PMID:31813137|PMID:31998365|PMID:32451238|PMID:32719376|PMID:32754920|PMID:32778825|PMID:33413471|PMID:33453710|PMID:33820958|PMID:34668645|PMID:35005816|PMID:35225935|PMID:35281663|PMID:35361390|PMID:36007526|PMID:36105101|PMID:36717752|PMID:36861405|PMID:37305718|PMID:37316190|PMID:37420116|PMID:37597066|PMID:38128819|PMID:38455531|PMID:38863445|PMID:39075538|PMID:39494389|PMID:39523381|PMID:7602808|PMID:7909321|PMID:7912889|PMID:7951229|PMID:8880917|PMID:8990001|PMID:9285782|PMID:9536098|PMID:9554742|PMID:9929975
8790424	Mmut	methylmalonyl-CoA mutase	gene	DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	treatment	ISO	RGD:1558195	D	RGD:9068941	20200609	RGD			PMID:19861951|REF_RGD_ID:13208535
8790424	Mmut	methylmalonyl-CoA mutase	gene	DOID:0080483	peroxisome biogenesis disorder 8A		ISO	RGD:1344450	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A (Zellweger)	PMID:25741868|PMID:28492532
8790424	Mmut	methylmalonyl-CoA mutase	gene	DOID:0081437	Peroxisome biogenesis disorder 8B		ISO	RGD:1344450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8B	PMID:25741868|PMID:28492532
8790424	Mmut	methylmalonyl-CoA mutase	gene	DOID:10534	stomach cancer		ISO	RGD:1344450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8790424	Mmut	methylmalonyl-CoA mutase	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1344450	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Isolated Methylmalonic Acidemia | ClinVar Annotator: match by term: Methylmalonic acidemia | ClinVar Annotator: match by term: Methylmalonic aciduria	PMID:12402345|PMID:15643616|PMID:15781192|PMID:16199547|PMID:16281286|PMID:16490061|PMID:17075691|PMID:17113806|PMID:17957493|PMID:19862841|PMID:21114891|PMID:22614770|PMID:22727635|PMID:23430940|PMID:24961826|PMID:25087612|PMID:25125334|PMID:25525159|PMID:25741868|PMID:26420839|PMID:26615597|PMID:26790480|PMID:27167370|PMID:27233228|PMID:27591164|PMID:27751223|PMID:28492532|PMID:30080956|PMID:31998365|PMID:32451238|PMID:32754920|PMID:33413471|PMID:33453710|PMID:34394177|PMID:34668645|PMID:36717752|PMID:38128819|PMID:39075538|PMID:7909321|PMID:7912889|PMID:8990001|PMID:9285782|PMID:9554742|PMID:9929975
8790424	Mmut	methylmalonyl-CoA mutase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1344450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8790424	Mmut	methylmalonyl-CoA mutase	gene	DOID:4362	cervical cancer		ISO	RGD:1344450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8790424	Mmut	methylmalonyl-CoA mutase	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1344450	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19427250
8790424	Mmut	methylmalonyl-CoA mutase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8790424	Mmut	methylmalonyl-CoA mutase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
8790424	Mmut	methylmalonyl-CoA mutase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790424	Mmut	methylmalonyl-CoA mutase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8790424	Mmut	methylmalonyl-CoA mutase	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1344450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hyperammonemia	PMID:15643616|PMID:15781192|PMID:16281286|PMID:16435223|PMID:23430940|PMID:25741868|PMID:28492532|PMID:31792768
8790424	Mmut	methylmalonyl-CoA mutase	gene	DOID:936	brain disease		ISO	RGD:1344450	D	RGD:8554872	20230502	ClinVar		ClinVar Annotator: match by term: Neonatal encephalopathy	PMID:25741868
8790424	Mmut	methylmalonyl-CoA mutase	gene	DOID:9970	obesity		ISO	RGD:1344450	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
8790446	Krt3	keratin 3	gene	DOID:0080671	Meesmann corneal dystrophy 2		ISO	RGD:1353879	D	RGD:7240710	20200226	OMIM			
8790446	Krt3	keratin 3	gene	DOID:0080671	Meesmann corneal dystrophy 2		ISO	RGD:1353879	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORNEAL DYSTROPHY, MEESMANN, 2 | ClinVar Annotator: match by term: Corneal dystrophy, Meesmann, 2 | ClinVar Annotator: match by term: KRT3-related condition	PMID:25741868|PMID:28492532
8790446	Krt3	keratin 3	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1353879	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8790446	Krt3	keratin 3	gene	DOID:4362	cervical cancer		ISO	RGD:1353879	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8790446	Krt3	keratin 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8790446	Krt3	keratin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1353879	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8790446	Krt3	keratin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790459	Tnfrsf12a	TNF receptor superfamily member 12A	gene	DOID:3021	acute kidney failure		ISO	RGD:1343569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23052191
8790459	Tnfrsf12a	TNF receptor superfamily member 12A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790459	Tnfrsf12a	TNF receptor superfamily member 12A	gene	DOID:5844	myocardial infarction		ISO	RGD:1343569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20082609
8790459	Tnfrsf12a	TNF receptor superfamily member 12A	gene	DOID:9000669	Ventricular Dysfunction, Right	ameliorates	ISO	RGD:1550230	D	RGD:9068941	20241219	RGD			PMID:23325387|REF_RGD_ID:596933101
8790459	Tnfrsf12a	TNF receptor superfamily member 12A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1343569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8790459	Tnfrsf12a	TNF receptor superfamily member 12A	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:631329	D	RGD:9068941	20241219	RGD		mRNA:increased expression:right ventricle	PMID:23325387|REF_RGD_ID:596933101
8790467	Crtac1	cartilage acidic protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8790467	Crtac1	cartilage acidic protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:737274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8790467	Crtac1	cartilage acidic protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8790467	Crtac1	cartilage acidic protein 1	gene	DOID:1324	lung cancer		ISO	RGD:737274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8790467	Crtac1	cartilage acidic protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:737274	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8790467	Crtac1	cartilage acidic protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790467	Crtac1	cartilage acidic protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:737274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8790467	Crtac1	cartilage acidic protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8790467	Crtac1	cartilage acidic protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790467	Crtac1	cartilage acidic protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8790510	Srsf9	serine and arginine rich splicing factor 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8790510	Srsf9	serine and arginine rich splicing factor 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8790510	Srsf9	serine and arginine rich splicing factor 9	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1319864	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8790510	Srsf9	serine and arginine rich splicing factor 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790510	Srsf9	serine and arginine rich splicing factor 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8790510	Srsf9	serine and arginine rich splicing factor 9	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:1319864	D	RGD:9068941	20200609	RGD			PMID:20616573|REF_RGD_ID:11040805
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1323764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia		ISO	RGD:1323764	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:1115	sarcoma		ISO	RGD:1323764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:13938	amenorrhea		ISO	RGD:1323764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:32870266
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1323764	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26206560
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:1323764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:2921	glomerulonephritis		ISO	RGD:620028	D	RGD:9068941	20200609	RGD			PMID:11290560|REF_RGD_ID:1579882
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:3192	neurilemmoma		ISO	RGD:1323764	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25551830
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1323764	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22751098
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1323764	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:5151	plexiform neurofibroma		ISO	RGD:1323764	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25551830
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1323764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1323764	D	RGD:9068941	20200609	RGD		associated Pancreatic Neoplasms	PMID:19252414|REF_RGD_ID:2325833
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1323764	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26206560
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323764	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1323764	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12644472
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1323764	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26206560
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1323764	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25551830
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:9002514	Neointima		ISO	RGD:620028	D	RGD:9068941	20200609	RGD			PMID:9758639|REF_RGD_ID:631894
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1323764	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26206560
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:9008350	NATURAL KILLER CELL ENTEROPATHY		ISO	RGD:1323764	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Natural killer cell enteropathy	
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8790519	Axl	AXL receptor tyrosine kinase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1323764	D	RGD:9068941	20200609	RGD			PMID:10528229|REF_RGD_ID:2325834
8790547	Zswim7	zinc finger SWIM-type containing 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8790547	Zswim7	zinc finger SWIM-type containing 7	gene	DOID:0061014	ovarian dysgenesis 10		ISO	RGD:1606167	D	RGD:7240710	20220427	OMIM			
8790547	Zswim7	zinc finger SWIM-type containing 7	gene	DOID:0061014	ovarian dysgenesis 10		ISO	RGD:1606167	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ovarian dysgenesis 10	
8790547	Zswim7	zinc finger SWIM-type containing 7	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1606167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	
8790547	Zswim7	zinc finger SWIM-type containing 7	gene	DOID:0070570	spermatogenic failure 71		ISO	RGD:1606167	D	RGD:7240710	20220427	OMIM			
8790547	Zswim7	zinc finger SWIM-type containing 7	gene	DOID:0070570	spermatogenic failure 71		ISO	RGD:1606167	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 71	PMID:25741868
8790547	Zswim7	zinc finger SWIM-type containing 7	gene	DOID:3275	thymoma		ISO	RGD:1606167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8790547	Zswim7	zinc finger SWIM-type containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790547	Zswim7	zinc finger SWIM-type containing 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8790547	Zswim7	zinc finger SWIM-type containing 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790547	Zswim7	zinc finger SWIM-type containing 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317065	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:0050669	spastic cerebral palsy		ISO	RGD:1317065	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: spastic cerebral palsy	PMID:25741868
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1317065	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:0060058	lymphoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:0081360	spastic quadriplegic cerebral palsy 2		ISO	RGD:1317065	D	RGD:7240710	20180130	OMIM			
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:0081360	spastic quadriplegic cerebral palsy 2		ISO	RGD:1317065	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 2 | ClinVar Annotator: match by term: KANK1- Related Disorder | ClinVar Annotator: match by term: KANK1-related condition	PMID:16301218|PMID:25741868|PMID:28492532
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:0081360	spastic quadriplegic cerebral palsy 2		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 2 | ClinVar Annotator: match by term: KANK1-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317065	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:1115	sarcoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:13580	cholestasis		ISO	RGD:1317065	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:3070	high grade glioma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317065	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1317065	D	RGD:9068941	20200609	RGD		DNA, mRNA, protein:hypermethylation, decreased expression:kidney	PMID:12133830|REF_RGD_ID:2315654
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317065	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:5419	schizophrenia		ISO	RGD:1317065	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1317065	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:28492532
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317065	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:28492532
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317065	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317065	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
8790556	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8790591	Bdh2	3-hydroxybutyrate dehydrogenase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8790591	Bdh2	3-hydroxybutyrate dehydrogenase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8790591	Bdh2	3-hydroxybutyrate dehydrogenase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8790591	Bdh2	3-hydroxybutyrate dehydrogenase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8790591	Bdh2	3-hydroxybutyrate dehydrogenase 2	gene	DOID:1324	lung cancer		ISO	RGD:1604606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
8790591	Bdh2	3-hydroxybutyrate dehydrogenase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8790591	Bdh2	3-hydroxybutyrate dehydrogenase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790591	Bdh2	3-hydroxybutyrate dehydrogenase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8790591	Bdh2	3-hydroxybutyrate dehydrogenase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8790591	Bdh2	3-hydroxybutyrate dehydrogenase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8790591	Bdh2	3-hydroxybutyrate dehydrogenase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1604606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8790610	Dlgap1	DLG associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8790610	Dlgap1	DLG associated protein 1	gene	DOID:0080036	SOST-related sclerosing bone dysplasia		ISO	RGD:734098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Elevated alkaline phosphatase	PMID:12954649
8790610	Dlgap1	DLG associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:734098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8790610	Dlgap1	DLG associated protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8790610	Dlgap1	DLG associated protein 1	gene	DOID:1324	lung cancer		ISO	RGD:734098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8790610	Dlgap1	DLG associated protein 1	gene	DOID:1909	melanoma		ISO	RGD:734098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8790610	Dlgap1	DLG associated protein 1	gene	DOID:3275	thymoma		ISO	RGD:734098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8790610	Dlgap1	DLG associated protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:734098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8790610	Dlgap1	DLG associated protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:734098	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8790610	Dlgap1	DLG associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790610	Dlgap1	DLG associated protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8790610	Dlgap1	DLG associated protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:734098	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
8790610	Dlgap1	DLG associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790642	Nkapl	NFKB activating protein like	gene	DOID:5419	schizophrenia		ISO	RGD:1323244	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22037552
8790654	Fcrl4	Fc receptor like 4	gene	DOID:0060058	lymphoma		ISO	RGD:1603196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8790654	Fcrl4	Fc receptor like 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8790654	Fcrl4	Fc receptor like 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8790672	Grin3b	glutamate ionotropic receptor NMDA type subunit 3B	gene	DOID:10534	stomach cancer		ISO	RGD:1353575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8790672	Grin3b	glutamate ionotropic receptor NMDA type subunit 3B	gene	DOID:1324	lung cancer		ISO	RGD:1353575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8790672	Grin3b	glutamate ionotropic receptor NMDA type subunit 3B	gene	DOID:3275	thymoma		ISO	RGD:1353575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8790672	Grin3b	glutamate ionotropic receptor NMDA type subunit 3B	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:621705	D	RGD:9068941	20260423	RGD			PMID:30072177|REF_RGD_ID:645123315
8790672	Grin3b	glutamate ionotropic receptor NMDA type subunit 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790672	Grin3b	glutamate ionotropic receptor NMDA type subunit 3B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8790672	Grin3b	glutamate ionotropic receptor NMDA type subunit 3B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1353575	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8790672	Grin3b	glutamate ionotropic receptor NMDA type subunit 3B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8790683	Cdx2	caudal type homeobox 2	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:730914	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29439001
8790683	Cdx2	caudal type homeobox 2	gene	DOID:0080700	caudal regression syndrome		ISO	RGD:730914	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sirenomelia	PMID:25741868
8790683	Cdx2	caudal type homeobox 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:730914	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:35674868
8790683	Cdx2	caudal type homeobox 2	gene	DOID:9000545	Ectromelia		ISO	RGD:730914	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sirenomelia	PMID:25741868
8790683	Cdx2	caudal type homeobox 2	gene	DOID:9001441	Adenomatous Polyps		ISO	RGD:730915	D	RGD:9068941	20200609	RGD			PMID:9052785|REF_RGD_ID:734757
8790683	Cdx2	caudal type homeobox 2	gene	DOID:9001471	Anorectal Malformations		ISO	RGD:730914	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Anorectal malformation	PMID:25741868
8790683	Cdx2	caudal type homeobox 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:730914	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29439001
8790683	Cdx2	caudal type homeobox 2	gene	DOID:9206	Barrett's esophagus	disease_progression	ISO	RGD:730914	D	RGD:9068941	20200609	RGD			PMID:23011828|REF_RGD_ID:7349348
8790700	LOC102016906	chromosome unknown open reading frame, human C19orf33	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1354281	D	RGD:9068941	20240208	CTD		CTD Direct Evidence: marker/mechanism	PMID:35142956
8790700	LOC102016906	chromosome unknown open reading frame, human C19orf33	gene	DOID:9000918	Disease Progression		ISO	RGD:1354281	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35142956
8790708	Frs3	fibroblast growth factor receptor substrate 3	gene	DOID:1115	sarcoma		ISO	RGD:1321005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8790708	Frs3	fibroblast growth factor receptor substrate 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8790708	Frs3	fibroblast growth factor receptor substrate 3	gene	DOID:3275	thymoma		ISO	RGD:1321005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8790708	Frs3	fibroblast growth factor receptor substrate 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8790708	Frs3	fibroblast growth factor receptor substrate 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8790708	Frs3	fibroblast growth factor receptor substrate 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8790708	Frs3	fibroblast growth factor receptor substrate 3	gene	DOID:905	Zellweger syndrome		ISO	RGD:1321005	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Zellweger Spectrum	PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792
8790725	Tent5d	terminal nucleotidyltransferase 5D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8790725	Tent5d	terminal nucleotidyltransferase 5D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790754	Cda	cytidine deaminase	gene	DOID:10534	stomach cancer		ISO	RGD:1322377	D	RGD:9068941	20220616	RGD		protein:increased expression:stomach:	PMID:8076377|REF_RGD_ID:152995290
8790754	Cda	cytidine deaminase	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1322377	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.K27Q (human)	PMID:18347182|REF_RGD_ID:2316365
8790754	Cda	cytidine deaminase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8790754	Cda	cytidine deaminase	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1322377	D	RGD:9068941	20220616	RGD		DNA:SNP:cds:rs1048977|rs12726436|rs2072671 (human)	PMID:28347776|REF_RGD_ID:152995291
8790754	Cda	cytidine deaminase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790754	Cda	cytidine deaminase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1322377	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:10811482|PMID:25330770
8790754	Cda	cytidine deaminase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8790765	Exosc4	exosome component 4	gene	DOID:4362	cervical cancer		ISO	RGD:1322197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8790776	Grsf1	G-rich RNA sequence binding factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8790776	Grsf1	G-rich RNA sequence binding factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8790776	Grsf1	G-rich RNA sequence binding factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8790776	Grsf1	G-rich RNA sequence binding factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8790776	Grsf1	G-rich RNA sequence binding factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1322002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8790776	Grsf1	G-rich RNA sequence binding factor 1	gene	DOID:1909	melanoma		ISO	RGD:1322002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8790776	Grsf1	G-rich RNA sequence binding factor 1	gene	DOID:3070	high grade glioma		ISO	RGD:1322002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8790776	Grsf1	G-rich RNA sequence binding factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790776	Grsf1	G-rich RNA sequence binding factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8790776	Grsf1	G-rich RNA sequence binding factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790776	Grsf1	G-rich RNA sequence binding factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8790792	Mxd4	MAX dimerization protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8790792	Mxd4	MAX dimerization protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8790792	Mxd4	MAX dimerization protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1312919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8790792	Mxd4	MAX dimerization protein 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8790792	Mxd4	MAX dimerization protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790792	Mxd4	MAX dimerization protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790802	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8790802	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8790802	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:10534	stomach cancer		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8790802	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8790802	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:1115	sarcoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8790802	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:1909	melanoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8790802	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8790802	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1319094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
8790802	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:3275	thymoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8790802	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1319094	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8790802	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790802	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8790802	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790802	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1319094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
8790802	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8790802	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8790851	CDH13	cadherin 13	gene	DOID:2394	ovarian cancer		ISO	RGD:734374	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:10493953|REF_RGD_ID:2298987
8790851	Cdh13	cadherin 13	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:734374	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:18387661|REF_RGD_ID:2293539
8790851	Cdh13	cadherin 13	gene	DOID:10534	stomach cancer		ISO	RGD:734374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8790851	Cdh13	cadherin 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734374	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:18094410|REF_RGD_ID:2293014
8790851	Cdh13	cadherin 13	gene	DOID:1115	sarcoma		ISO	RGD:734374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8790851	Cdh13	cadherin 13	gene	DOID:1324	lung cancer		ISO	RGD:734374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8790851	Cdh13	cadherin 13	gene	DOID:1612	breast cancer		ISO	RGD:734374	D	RGD:9068941	20200609	RGD		DNA:hypermethylation	PMID:17764565|REF_RGD_ID:2293542
8790851	Cdh13	cadherin 13	gene	DOID:1612	breast cancer		ISO	RGD:734374	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast duct:	PMID:8673923|REF_RGD_ID:734735
8790851	Cdh13	cadherin 13	gene	DOID:2349	arteriosclerosis		ISO	RGD:734374	D	RGD:9068941	20200609	RGD		protein:increased expression:aorta	PMID:11326751|REF_RGD_ID:2293555
8790851	Cdh13	cadherin 13	gene	DOID:2871	endometrial carcinoma	disease_progression	ISO	RGD:734374	D	RGD:9068941	20200609	RGD		DNA:hypomethylation	PMID:18519763|REF_RGD_ID:2298985
8790851	Cdh13	cadherin 13	gene	DOID:303	substance-related disorder		ISO	RGD:619745	D	RGD:9068941	20200820	RGD			PMID:28387990|REF_RGD_ID:13503340
8790851	Cdh13	cadherin 13	gene	DOID:303	substance-related disorder		ISO	RGD:734374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8790851	Cdh13	cadherin 13	gene	DOID:3459	breast carcinoma		ISO	RGD:734374	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:11389090|REF_RGD_ID:2293545
8790851	Cdh13	cadherin 13	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:734374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18337602
8790851	Cdh13	cadherin 13	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:734374	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:11389090|REF_RGD_ID:2293545
8790851	Cdh13	cadherin 13	gene	DOID:4247	coronary restenosis		ISO	RGD:619745	D	RGD:9068941	20200609	RGD		protein:increased expression:artery, smooth muscle cell	PMID:12376824|REF_RGD_ID:2293553
8790851	Cdh13	cadherin 13	gene	DOID:4362	cervical cancer		ISO	RGD:734374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8790851	Cdh13	cadherin 13	gene	DOID:5041	esophageal cancer		ISO	RGD:734374	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8790851	Cdh13	cadherin 13	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:734374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8790851	Cdh13	cadherin 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790851	Cdh13	cadherin 13	gene	DOID:670	amphetamine abuse		ISO	RGD:734374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
8790851	Cdh13	cadherin 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8790851	Cdh13	cadherin 13	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:734374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18729198
8790851	Cdh13	cadherin 13	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:734374	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:17029216|REF_RGD_ID:2293544
8790851	Cdh13	cadherin 13	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:734374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17288544|PMID:18264096
8790851	Cdh13	cadherin 13	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:619745	D	RGD:9068941	20200609	RGD		associated with Inflammation;DNA:hypermethylation:promoter	PMID:17971904|REF_RGD_ID:2293546
8790851	Cdh13	cadherin 13	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:734374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18337602
8790851	Cdh13	cadherin 13	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:734374	D	RGD:9068941	20200609	RGD			PMID:9737784|REF_RGD_ID:734736
8790851	Cdh13	cadherin 13	gene	DOID:9005233	Experimental Mammary Neoplasms	severity	ISO	RGD:734375	D	RGD:9068941	20200609	RGD			PMID:18316604|REF_RGD_ID:2293540
8790851	Cdh13	cadherin 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790851	Cdh13	cadherin 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8790851	Cdh13	cadherin 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8790851	Cdh13	cadherin 13	gene	DOID:9206	Barrett's esophagus		ISO	RGD:734374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18729198
8790886	Setx	senataxin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8790886	Setx	senataxin	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1347866	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2	PMID:25741868
8790886	Setx	senataxin	gene	DOID:0050754	early-onset ataxia with oculomotor apraxia and hypoalbuminemia		ISO	RGD:1347866	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	PMID:32488064
8790886	Setx	senataxin	gene	DOID:0050755	spinocerebellar ataxia with axonal neuropathy 2		ISO	RGD:1347866	D	RGD:7240710	20180130	OMIM			
8790886	Setx	senataxin	gene	DOID:0050755	spinocerebellar ataxia with axonal neuropathy 2		ISO	RGD:1347866	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia | ClinVar Annotator: match by term: SETX-related disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	PMID:14770181|PMID:15106121|PMID:15258781|PMID:15732101|PMID:16644229|PMID:17096168|PMID:17159128|PMID:17576681|PMID:17720498|PMID:18058631|PMID:18414213|PMID:18625865|PMID:19377860|PMID:19569000|PMID:19696032|PMID:19744353|PMID:20540686|PMID:20981092|PMID:21190393|PMID:21438761|PMID:21576111|PMID:22088787|PMID:22995991|PMID:23129421|PMID:23566282|PMID:23757202|PMID:23806086|PMID:23881933|PMID:23941260|PMID:24030952|PMID:24033266|PMID:24088041|PMID:24105744|PMID:24244371|PMID:24760770|PMID:24814856|PMID:25025039|PMID:25116135|PMID:25174650|PMID:25182519|PMID:25299611|PMID:25326635|PMID:25353622|PMID:25382069|PMID:25525159|PMID:25558065|PMID:25741868|PMID:25802885|PMID:26068213|PMID:26257172|PMID:26467025|PMID:26601740|PMID:26633545|PMID:27013921|PMID:27165006|PMID:27790088|PMID:28130640|PMID:28245518|PMID:28492532|PMID:28642336|PMID:28708278|PMID:28832565|PMID:29170628|PMID:29411640|PMID:29482223|PMID:29525178|PMID:29650794|PMID:30198223|PMID:30220148|PMID:30564185|PMID:30642639|PMID:31325016|PMID:31429931|PMID:31589614|PMID:31692161|PMID:31957062|PMID:32028661|PMID:32166880|PMID:32253937|PMID:32397312|PMID:32409511|PMID:32729724|PMID:33098801|PMID:33770234|PMID:33956305|PMID:34922620|PMID:35309588|PMID:9467005|PMID:9497266|PMID:9536098
8790886	Setx	senataxin	gene	DOID:0050755	spinocerebellar ataxia with axonal neuropathy 2		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia | ClinVar Annotator: match by term: Ataxia-ocular apraxia-2 | ClinVar Annotator: match by term: SETX-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	PMID:14770181|PMID:15258781|PMID:15732101|PMID:16644229|PMID:16717225|PMID:17096168|PMID:17159128|PMID:17576681|PMID:17720498|PMID:18058631|PMID:18414213|PMID:19377860|PMID:19569000|PMID:19696032|PMID:19744353|PMID:20540686|PMID:20981092|PMID:21190393|PMID:21438761|PMID:22088787|PMID:22995991|PMID:23129421|PMID:23447461|PMID:23566282|PMID:23881933|PMID:23941260|PMID:24030952|PMID:24033266|PMID:24088041|PMID:24108619|PMID:24760770|PMID:24814856|PMID:25116135|PMID:25174650|PMID:25299611|PMID:25382069|PMID:25525159|PMID:25741868|PMID:25802885|PMID:25869998|PMID:26068213|PMID:26213621|PMID:26257172|PMID:26467025|PMID:26633545|PMID:27013921|PMID:27790088|PMID:27884173|PMID:28245518|PMID:28430856|PMID:28492532|PMID:28642336|PMID:28708278|PMID:28717666|PMID:28832565|PMID:29170628|PMID:29411640|PMID:29482223|PMID:29525178|PMID:29650794|PMID:30052327|PMID:30198223|PMID:30220148|PMID:30564185|PMID:31325016|PMID:31429931|PMID:31589614|PMID:31692161|PMID:32028661|PMID:32253937|PMID:32397312|PMID:32409511|PMID:32536663|PMID:32987860|PMID:33057194|PMID:33098801|PMID:33414559|PMID:33956305|PMID:34922620|PMID:35052416|PMID:35309588|PMID:35872528|PMID:36549973|PMID:37223130|PMID:37638500|PMID:38137339|PMID:40068357|PMID:9536098
8790886	Setx	senataxin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8790886	Setx	senataxin	gene	DOID:0050952	spastic ataxia		ISO	RGD:1347866	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:28708278
8790886	Setx	senataxin	gene	DOID:0060058	lymphoma		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8790886	Setx	senataxin	gene	DOID:0060196	amyotrophic lateral sclerosis type 4		ISO	RGD:1347866	D	RGD:7240710	20180130	OMIM			
8790886	Setx	senataxin	gene	DOID:0060196	amyotrophic lateral sclerosis type 4		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 4 | ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES	PMID:14770181|PMID:15106121|PMID:16199547|PMID:16644229|PMID:16717225|PMID:17096168|PMID:17159128|PMID:17576681|PMID:18058631|PMID:19569000|PMID:19696032|PMID:19727998|PMID:19744353|PMID:20540686|PMID:20981092|PMID:21190393|PMID:21438761|PMID:21494555|PMID:22088787|PMID:22995991|PMID:23129421|PMID:23447461|PMID:23881933|PMID:23941260|PMID:24030952|PMID:24033266|PMID:24108619|PMID:25116135|PMID:25174650|PMID:25299611|PMID:25382069|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25869998|PMID:26213621|PMID:26467025|PMID:26811093|PMID:27013921|PMID:27790088|PMID:27884173|PMID:28430856|PMID:28492532|PMID:28642336|PMID:28708278|PMID:28717666|PMID:28832565|PMID:29170628|PMID:29411640|PMID:29525178|PMID:29650794|PMID:30052327|PMID:30642639|PMID:31429931|PMID:31656689|PMID:31957062|PMID:32166880|PMID:32253937|PMID:32397312|PMID:32409511|PMID:32536663|PMID:32729724|PMID:32987860|PMID:33057194|PMID:33098801|PMID:33414559|PMID:33956305|PMID:34922620|PMID:35309588|PMID:35426160|PMID:35872528|PMID:36549973|PMID:36553628|PMID:37952009|PMID:38137339|PMID:9536098
8790886	Setx	senataxin	gene	DOID:0111202	autosomal dominant distal hereditary motor neuronopathy 14		ISO	RGD:1347866	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Genetic motor neuron disease	PMID:24533459
8790886	Setx	senataxin	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:15732101|PMID:16717225|PMID:19696032|PMID:25025039|PMID:25741868|PMID:25802885|PMID:26467025|PMID:28492532|PMID:32987860
8790886	Setx	senataxin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8790886	Setx	senataxin	gene	DOID:1115	sarcoma		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8790886	Setx	senataxin	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1347866	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Proximal spinal muscular atrophy	PMID:15106121|PMID:21494555|PMID:25741868|PMID:28492532
8790886	Setx	senataxin	gene	DOID:1389	polyneuropathy		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868|PMID:28492532
8790886	Setx	senataxin	gene	DOID:1909	melanoma		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
8790886	Setx	senataxin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8790886	Setx	senataxin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347866	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:17096168|PMID:17159128|PMID:17576681|PMID:18058631|PMID:19569000|PMID:19696032|PMID:20981092|PMID:21190393|PMID:22088787|PMID:22995991|PMID:23129421|PMID:23881933|PMID:23941260|PMID:25174650|PMID:25382069|PMID:25741868|PMID:26467025|PMID:27013921|PMID:27790088|PMID:28130640|PMID:28492532|PMID:28642336|PMID:28832565|PMID:29411640|PMID:31957062|PMID:32253937|PMID:9536098
8790886	Setx	senataxin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347866	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:17096168|PMID:17159128|PMID:17576681|PMID:18058631|PMID:19569000|PMID:19696032|PMID:20981092|PMID:21190393|PMID:22088787|PMID:22995991|PMID:23129421|PMID:23881933|PMID:23941260|PMID:25174650|PMID:25382069|PMID:25741868|PMID:26467025|PMID:27013921|PMID:27165006|PMID:27487029|PMID:27790088|PMID:28492532|PMID:28642336|PMID:28832565|PMID:29411640|PMID:29525178|PMID:29650794|PMID:31957062|PMID:32253937|PMID:32397312|PMID:32409511|PMID:33770234|PMID:35309588|PMID:36515702|PMID:36549973|PMID:38137339|PMID:9536098
8790886	Setx	senataxin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:17096168|PMID:18058631|PMID:20981092|PMID:21190393|PMID:21438761|PMID:22088787|PMID:22995991|PMID:23129421|PMID:23447461|PMID:23881933|PMID:25174650|PMID:25382069|PMID:25741868|PMID:25802885|PMID:25869998|PMID:26213621|PMID:26467025|PMID:27013921|PMID:27790088|PMID:27884173|PMID:28430856|PMID:28492532|PMID:28642336|PMID:28717666|PMID:28832565|PMID:29525178|PMID:32253937|PMID:32397312|PMID:32409511|PMID:32987860|PMID:33414559|PMID:35309588|PMID:36549973|PMID:38137339
8790886	Setx	senataxin	gene	DOID:3275	thymoma		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8790886	Setx	senataxin	gene	DOID:3310	atopic dermatitis		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dermatitis, atopic	
8790886	Setx	senataxin	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease	PMID:18058631|PMID:21190393|PMID:21438761|PMID:22088787|PMID:23129421|PMID:23447461|PMID:23881933|PMID:25382069|PMID:25741868|PMID:25802885|PMID:25869998|PMID:26213621|PMID:26467025|PMID:27790088|PMID:27884173|PMID:28430856|PMID:28492532|PMID:28717666|PMID:28832565|PMID:29525178|PMID:32253937|PMID:32397312|PMID:32409511|PMID:32987860|PMID:33414559|PMID:36549973|PMID:38137339
8790886	Setx	senataxin	gene	DOID:4362	cervical cancer		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8790886	Setx	senataxin	gene	DOID:5041	esophageal cancer		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8790886	Setx	senataxin	gene	DOID:543	dystonia		ISO	RGD:1347866	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:28492532
8790886	Setx	senataxin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790886	Setx	senataxin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8790886	Setx	senataxin	gene	DOID:630	genetic disease		ISO	RGD:1347866	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:14770181|PMID:15732101|PMID:16644229|PMID:17159128|PMID:17576681|PMID:17720498|PMID:18058631|PMID:19569000|PMID:23129421|PMID:23881933|PMID:25025039|PMID:25174650|PMID:25182519|PMID:25299611|PMID:25353622|PMID:25382069|PMID:25525159|PMID:25741868|PMID:25802885|PMID:26467025|PMID:26752306|PMID:27013921|PMID:27790088|PMID:28245518|PMID:28492532|PMID:28642336|PMID:28708278|PMID:28832565|PMID:29170628|PMID:29411640|PMID:29650794|PMID:30220148|PMID:30564185|PMID:31069529|PMID:31429931|PMID:31589614|PMID:31692161|PMID:31957062|PMID:32028661|PMID:32166880|PMID:32186211|PMID:32253937|PMID:32397312|PMID:9536098
8790886	Setx	senataxin	gene	DOID:630	genetic disease		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17159128|PMID:18058631|PMID:23129421|PMID:23881933|PMID:25174650|PMID:25382069|PMID:25741868|PMID:25802885|PMID:26467025|PMID:27013921|PMID:27790088|PMID:28492532|PMID:28642336|PMID:28708278|PMID:28832565|PMID:29170628|PMID:29411640|PMID:29525178|PMID:29650794|PMID:31069529|PMID:31429931|PMID:32028661|PMID:32253937|PMID:32409511|PMID:32987860|PMID:35309588|PMID:35896380|PMID:36549973|PMID:38137339
8790886	Setx	senataxin	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8790886	Setx	senataxin	gene	DOID:870	neuropathy		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuropathy	PMID:19744353|PMID:25741868
8790886	Setx	senataxin	gene	DOID:9001722	Dysarthria		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:17576681|PMID:28492532|PMID:9536098
8790886	Setx	senataxin	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mental deterioration	PMID:28492532
8790886	Setx	senataxin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8790886	Setx	senataxin	gene	DOID:9004866	Ataxia		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
8790886	Setx	senataxin	gene	DOID:9005077	Joint Instability		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8790886	Setx	senataxin	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868|PMID:28492532
8790886	Setx	senataxin	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:25741868|PMID:28492532
8790886	Setx	senataxin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790886	Setx	senataxin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8790886	Setx	senataxin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8790886	Setx	senataxin	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	PMID:28492532
8790886	Setx	senataxin	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	PMID:25741868|PMID:28492532
8790923	Cage1	cancer antigen 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8790923	Cage1	cancer antigen 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8790923	Cage1	cancer antigen 1	gene	DOID:1324	lung cancer		ISO	RGD:1604175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8790923	Cage1	cancer antigen 1	gene	DOID:1909	melanoma		ISO	RGD:1604175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8790947	Mfsd2b	MFSD2 lysolipid transporter B, sphingolipid	gene	DOID:10534	stomach cancer		ISO	RGD:3476989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8790947	Mfsd2b	MFSD2 lysolipid transporter B, sphingolipid	gene	DOID:5041	esophageal cancer		ISO	RGD:3476989	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8790966	Npdc1	neural proliferation, differentiation and control 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8790966	Npdc1	neural proliferation, differentiation and control 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8790966	Npdc1	neural proliferation, differentiation and control 1	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1353727	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
8790966	Npdc1	neural proliferation, differentiation and control 1	gene	DOID:1115	sarcoma		ISO	RGD:1353727	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8790966	Npdc1	neural proliferation, differentiation and control 1	gene	DOID:1324	lung cancer		ISO	RGD:1353727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8790966	Npdc1	neural proliferation, differentiation and control 1	gene	DOID:1909	melanoma		ISO	RGD:1353727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8790966	Npdc1	neural proliferation, differentiation and control 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8790966	Npdc1	neural proliferation, differentiation and control 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8790966	Npdc1	neural proliferation, differentiation and control 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353727	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8790966	Npdc1	neural proliferation, differentiation and control 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8790966	Npdc1	neural proliferation, differentiation and control 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1353727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8790966	Npdc1	neural proliferation, differentiation and control 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8790966	Npdc1	neural proliferation, differentiation and control 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8790966	Npdc1	neural proliferation, differentiation and control 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353727	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8790990	Thap2	THAP domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8790990	Thap2	THAP domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8790990	Thap2	THAP domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1349583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8790990	Thap2	THAP domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1349583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8790990	Thap2	THAP domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1349583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8790990	Thap2	THAP domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791010	Axin2	axin 2	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:1349667	D	RGD:9068941	20220210	RGD		protein:increased expression:mucosa:	PMID:11809809|REF_RGD_ID:151356508
8791010	Axin2	axin 2	gene	DOID:0050567	orofacial cleft		ISO	RGD:1349667	D	RGD:9068941	20220210	RGD		DNA:SNP:cds:rs2240308(p.P50S)(human)	PMID:19119171|REF_RGD_ID:151356509
8791010	Axin2	axin 2	gene	DOID:0050591	tooth agenesis		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligodontia	PMID:15042511|PMID:21416598|PMID:25637381|PMID:28492532
8791010	Axin2	axin 2	gene	DOID:0050866	oral squamous cell carcinoma	ameliorates	ISO	RGD:1349667	D	RGD:9068941	20220210	RGD			PMID:33046030|REF_RGD_ID:151356656
8791010	Axin2	axin 2	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:1349667	D	RGD:9068941	20220210	RGD			PMID:33046030|REF_RGD_ID:151356656
8791010	Axin2	axin 2	gene	DOID:0050866	oral squamous cell carcinoma	susceptibility	ISO	RGD:1349667	D	RGD:9068941	20211217	RGD		DNA:SNP:intron: C>T (rs3923087)(human)	PMID:21393552|REF_RGD_ID:150530486
8791010	Axin2	axin 2	gene	DOID:0050912	colon adenoma		ISO	RGD:1349667	D	RGD:9068941	20220210	RGD		protein:increased expression::	PMID:11809809|REF_RGD_ID:151356508
8791010	Axin2	axin 2	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1349667	D	RGD:9068941	20260521	RGD		protein,RNA:increased expression:colorectum:	PMID:23702820|REF_RGD_ID:151356501
8791010	Axin2	axin 2	gene	DOID:0110092	short-rib thoracic dysplasia 6 with or without polydactyly		ISO	RGD:1349667	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly	PMID:25741868|PMID:28492532
8791010	Axin2	axin 2	gene	DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J		ISO	RGD:1349667	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J	PMID:25741868|PMID:26467025|PMID:27153395|PMID:27854218|PMID:28492532|PMID:28577310|PMID:28944238|PMID:29212164
8791010	Axin2	axin 2	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:21472303|PMID:24033266|PMID:25741868|PMID:28492532
8791010	Axin2	axin 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1349667	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
8791010	Axin2	axin 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:69259	D	RGD:9068941	20220217	RGD		protein:decreased expression:lung	PMID:33092439|REF_RGD_ID:151356921
8791010	Axin2	axin 2	gene	DOID:1324	lung cancer		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8791010	Axin2	axin 2	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1349667	D	RGD:9068941	20220210	RGD		DNA:SNP:exon:148T>C(rs2240308)(human)	PMID:25091576|REF_RGD_ID:151356659
8791010	Axin2	axin 2	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1349667	D	RGD:9068941	20220210	RGD		DNA:SNPs:exons,introns:	PMID:28378643|REF_RGD_ID:151356504
8791010	Axin2	axin 2	gene	DOID:13714	anodontia		ISO	RGD:1349667	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Non-syndromic oligodontia	
8791010	Axin2	axin 2	gene	DOID:14330	Parkinson's disease	ameliorates	ISO	RGD:69259	D	RGD:9068941	20220217	RGD			PMID:31078578|REF_RGD_ID:151356747
8791010	Axin2	axin 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25741868|PMID:28492532
8791010	Axin2	axin 2	gene	DOID:1520	colon carcinoma		ISO	RGD:1349667	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma	PMID:21472303|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29641532|PMID:37231433
8791010	Axin2	axin 2	gene	DOID:1612	breast cancer		ISO	RGD:1349667	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm	PMID:21541676|PMID:25236910|PMID:26467025|PMID:28492532|PMID:29114927|PMID:29641532|PMID:33558524
8791010	Axin2	axin 2	gene	DOID:1826	epilepsy		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:21472303|PMID:24033266|PMID:25741868|PMID:28492532
8791010	Axin2	axin 2	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia	PMID:15042511|PMID:17373666|PMID:21159886|PMID:21416598|PMID:21626677|PMID:25236910|PMID:25741868|PMID:27993330|PMID:28492532
8791010	Axin2	axin 2	gene	DOID:219	colon cancer		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:15042511|PMID:16199547|PMID:21416598|PMID:25741868|PMID:28492532|PMID:29625052
8791010	Axin2	axin 2	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:69259	D	RGD:9068941	20220217	RGD			PMID:31650542|REF_RGD_ID:151356749
8791010	Axin2	axin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8791010	Axin2	axin 2	gene	DOID:2340	craniosynostosis		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:25741868|PMID:28492532
8791010	Axin2	axin 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8791010	Axin2	axin 2	gene	DOID:2841	asthma		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
8791010	Axin2	axin 2	gene	DOID:2870	endometrial adenocarcinoma		ISO	RGD:733705	D	RGD:9068941	20200609	RGD			PMID:11940574|REF_RGD_ID:13432156
8791010	Axin2	axin 2	gene	DOID:3121	gallbladder cancer	disease_progression	ISO	RGD:1349667	D	RGD:9068941	20220210	RGD		DNA:SNP::s4791171(human)	PMID:26715268|REF_RGD_ID:151356500
8791010	Axin2	axin 2	gene	DOID:3275	thymoma		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8791010	Axin2	axin 2	gene	DOID:3459	breast carcinoma		ISO	RGD:1349667	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8791010	Axin2	axin 2	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1349667	D	RGD:9068941	20220211	RGD		DNA:SNPs::1712 +19 G>A,148 C>T(human)	PMID:30346805|REF_RGD_ID:151356655
8791010	Axin2	axin 2	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1349667	D	RGD:9068941	20220210	RGD		DNA:SNP:cds:p.P50S(human)	PMID:16820935|REF_RGD_ID:151356657
8791010	Axin2	axin 2	gene	DOID:5409	lung small cell carcinoma	disease_progression	ISO	RGD:1349667	D	RGD:9068941	20220211	RGD		DNA:SNP::1386 C>T(human)	PMID:30346805|REF_RGD_ID:151356655
8791010	Axin2	axin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791010	Axin2	axin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8791010	Axin2	axin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8791010	Axin2	axin 2	gene	DOID:687	hepatoblastoma		ISO	RGD:1349667	D	RGD:9068941	20220210	RGD		protein:increased expression:liver:	PMID:11809809|REF_RGD_ID:151356508
8791010	Axin2	axin 2	gene	DOID:9000156	Metaplasia		ISO	RGD:735540	D	RGD:9068941	20200609	RGD		associated with Granulosa Cell Tumor;mRNA:increased expression:ovary	PMID:16488995|REF_RGD_ID:1643593
8791010	Axin2	axin 2	gene	DOID:9000945	Ventilator-Induced Lung Injury		ISO	RGD:69259	D	RGD:9068941	20220217	RGD			PMID:21935365|REF_RGD_ID:9685370
8791010	Axin2	axin 2	gene	DOID:9001642	Intestinal Polyps		ISO	RGD:735540	D	RGD:9068941	20220210	RGD		protein:increased expression:small intestinal polyps:	PMID:11809809|REF_RGD_ID:151356508
8791010	Axin2	axin 2	gene	DOID:9001733	Tinnitus		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:21472303|PMID:24033266|PMID:25741868|PMID:28492532
8791010	Axin2	axin 2	gene	DOID:9001820	Pulmonary Arterial Hypertension	exacerbates	ISO	RGD:69259	D	RGD:9068941	20220217	RGD			PMID:28694128|REF_RGD_ID:151356920
8791010	Axin2	axin 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1349667	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21188121
8791010	Axin2	axin 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532
8791010	Axin2	axin 2	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1349667	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
8791010	Axin2	axin 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:21472303|PMID:24033266|PMID:25741868|PMID:28492532
8791010	Axin2	axin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8791010	Axin2	axin 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349667	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11017067|PMID:12101426|PMID:15042511|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28265457|PMID:28492532|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29446198|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31769227|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34817745|PMID:9536098
8791010	Axin2	axin 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349667	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:22581971|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27153395|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28265457|PMID:28492532|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29446198|PMID:29458332|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31721781|PMID:31769227|PMID:31811167|PMID:31819260|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34196900|PMID:34817745|PMID:35014770|PMID:35904628|PMID:36071541|PMID:36502525|PMID:36672847|PMID:9536098
8791010	Axin2	axin 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349667	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:22581971|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27153395|PMID:27300758|PMID:27491081|PMID:27696107|PMID:27854218|PMID:28265457|PMID:28492532|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29446198|PMID:29458332|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31721781|PMID:31769227|PMID:31811167|PMID:31819260|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34196900|PMID:34817745|PMID:35014770|PMID:35904628|PMID:36071541|PMID:36502525|PMID:36672847|PMID:9536098
8791010	Axin2	axin 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349667	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:22581971|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27153395|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28112737|PMID:28265457|PMID:28492532|PMID:28569743|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29446198|PMID:29458332|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31721781|PMID:31769227|PMID:31811167|PMID:31819260|PMID:31874108|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34196900|PMID:34817745|PMID:35014770|PMID:35904628|PMID:35957908|PMID:36071541|PMID:36502525|PMID:36672847|PMID:37231433|PMID:37762649|PMID:37891325|PMID:38136308|PMID:38170500|PMID:38509102|PMID:38566764|PMID:38887977|PMID:9536098
8791010	Axin2	axin 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349667	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21270786|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:22581971|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27153395|PMID:27300758|PMID:27491081|PMID:27696107|PMID:27981572|PMID:28112737|PMID:28265457|PMID:28492532|PMID:28569743|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29446198|PMID:29458332|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31721781|PMID:31769227|PMID:31811167|PMID:31819260|PMID:31874108|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34196900|PMID:34637023|PMID:34817745|PMID:35014770|PMID:35904628|PMID:35957908|PMID:36017684|PMID:36071541|PMID:36502525|PMID:36672847|PMID:37231433|PMID:37762649|PMID:37891325|PMID:38136308|PMID:38170500|PMID:38509102|PMID:38566764|PMID:38887977|PMID:9536098
8791010	Axin2	axin 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349667	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:15042511|PMID:15735151|PMID:16199547|PMID:16941501|PMID:17373666|PMID:17576681|PMID:21416598|PMID:21472303|PMID:21476993|PMID:24033266|PMID:24581859|PMID:25741868|PMID:26467025|PMID:27009842|PMID:27491081|PMID:27696107|PMID:28195393|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29341116|PMID:29446198|PMID:29458332|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30760879|PMID:31285513|PMID:31769227|PMID:32984025|PMID:33725141|PMID:34817745|PMID:36017684|PMID:36035419|PMID:36502525|PMID:37626374|PMID:9536098
8791010	Axin2	axin 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349667	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15042511|PMID:15735151|PMID:16199547|PMID:16941501|PMID:17373666|PMID:17576681|PMID:21416598|PMID:21472303|PMID:21476993|PMID:24033266|PMID:24581859|PMID:25741868|PMID:26467025|PMID:27009842|PMID:27491081|PMID:27696107|PMID:28195393|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29341116|PMID:29446198|PMID:29458332|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30760879|PMID:31285513|PMID:31769227|PMID:32984025|PMID:33725141|PMID:34817745|PMID:36017684|PMID:36035419|PMID:36502525|PMID:37231433|PMID:37626374|PMID:9536098
8791010	Axin2	axin 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1349667	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
8791010	Axin2	axin 2	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:1349667	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
8791010	Axin2	axin 2	gene	DOID:9007387	Oligodontia-Colorectal Cancer Syndrome		ISO	RGD:1349667	D	RGD:7240710	20180130	OMIM			
8791010	Axin2	axin 2	gene	DOID:9007387	Oligodontia-Colorectal Cancer Syndrome		ISO	RGD:1349667	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: AXIN2-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome | ClinVar Annotator: match by term: TOOTH AGENESIS-COLORECTAL CANCER SYNDROME	PMID:10330403|PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:22581971|PMID:23169527|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27153395|PMID:27234654|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28265457|PMID:28492532|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31721781|PMID:31769227|PMID:31811167|PMID:31819260|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34817745|PMID:35014770|PMID:35904628|PMID:36071541|PMID:36672847|PMID:9536098
8791010	Axin2	axin 2	gene	DOID:9007387	Oligodontia-Colorectal Cancer Syndrome		ISO	RGD:1349667	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AXIN2 related disorder | ClinVar Annotator: match by term: AXIN2-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: AXIN2-related disorder | ClinVar Annotator: match by term: OLIGODONTIA-COLORECTAL CANCER SYNDROME | ClinVar Annotator: match by term: Oligodontia-cancer predisposition syndrome | ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome | ClinVar Annotator: match by term: TOOTH AGENESIS-COLORECTAL CANCER SYNDROME | ClinVar Annotator: match by term: oligodontia-cancer predisposition syndrome	PMID:10330403|PMID:15042511|PMID:15735151|PMID:16199547|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21416598|PMID:21472303|PMID:21476993|PMID:22581971|PMID:23169527|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27009842|PMID:27090353|PMID:27234654|PMID:27491081|PMID:28195393|PMID:28265457|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29341116|PMID:29458332|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31769227|PMID:32807118|PMID:32984025|PMID:33606809|PMID:33725141|PMID:34637023|PMID:34817745|PMID:35014770|PMID:35957908|PMID:36017684|PMID:36035419|PMID:36502525|PMID:36896836|PMID:37189394|PMID:37231433|PMID:38170500|PMID:39120161|PMID:9536098
8791010	Axin2	axin 2	gene	DOID:9007736	Vertigo		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:21472303|PMID:24033266|PMID:25741868|PMID:28492532
8791010	Axin2	axin 2	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1349667	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868|PMID:28492532
8791010	Axin2	axin 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1349667	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	
8791010	Axin2	axin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8791010	Axin2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:7240710	20200226	OMIM			
8791010	Axin2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27696107|PMID:28492532|PMID:29371908|PMID:29641532
8791010	Axin2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:15042511|PMID:21416598|PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27300758|PMID:27696107|PMID:28492532|PMID:28944238|PMID:29371908|PMID:29641532|PMID:30374176|PMID:33558524|PMID:33725141|PMID:34817745
8791010	Axin2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12101426|PMID:15042511|PMID:16941501|PMID:17373666|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27300758|PMID:27696107|PMID:28492532|PMID:28717660|PMID:28944238|PMID:29371908|PMID:29641532|PMID:30374176|PMID:33193653|PMID:33558524|PMID:33725141|PMID:34817745
8791010	Axin2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20230815	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12101426|PMID:15042511|PMID:16941501|PMID:17373666|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27300758|PMID:27696107|PMID:28492532|PMID:28944238|PMID:29371908|PMID:29641532|PMID:30374176|PMID:33193653
8791010	Axin2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:16199547|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27009842|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28492532|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29371908|PMID:29625052|PMID:29641532|PMID:30322717|PMID:30374176|PMID:30822429|PMID:31721781|PMID:31819260|PMID:32984025|PMID:33193653|PMID:9536098
8791010	Axin2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:16199547|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27009842|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28492532|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29371908|PMID:29625052|PMID:29641532|PMID:30322717|PMID:30374176|PMID:30822429|PMID:31721781|PMID:31819260|PMID:32984025|PMID:33193653|PMID:34196900|PMID:34817745|PMID:36502525|PMID:9536098
8791010	Axin2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:11017067|PMID:15042511|PMID:15735151|PMID:16199547|PMID:17373666|PMID:17576681|PMID:21416598|PMID:21520333|PMID:21626677|PMID:23838596|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27009842|PMID:27491081|PMID:27696107|PMID:28492532|PMID:29212164|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30322717|PMID:30822429|PMID:31721781|PMID:31819260|PMID:32984025|PMID:34196900|PMID:34817745|PMID:36502525|PMID:9536098
8791010	Axin2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:11017067|PMID:15042511|PMID:15735151|PMID:16199547|PMID:17373666|PMID:17576681|PMID:21416598|PMID:21520333|PMID:21626677|PMID:23838596|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27009842|PMID:27491081|PMID:27696107|PMID:28112737|PMID:28492532|PMID:29212164|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30322717|PMID:30822429|PMID:31721781|PMID:31819260|PMID:32984025|PMID:34196900|PMID:34817745|PMID:36502525|PMID:38509102|PMID:9536098
8791010	Axin2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:11017067|PMID:15042511|PMID:16199547|PMID:17373666|PMID:17576681|PMID:21416598|PMID:21520333|PMID:21626677|PMID:23838596|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27009842|PMID:27491081|PMID:27696107|PMID:28112737|PMID:28492532|PMID:29212164|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30322717|PMID:30822429|PMID:31721781|PMID:31819260|PMID:32984025|PMID:33725141|PMID:34196900|PMID:34817745|PMID:36017684|PMID:36502525|PMID:38509102|PMID:9536098
8791010	Axin2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:11017067|PMID:15042511|PMID:16199547|PMID:16941501|PMID:17373666|PMID:17576681|PMID:21416598|PMID:21472303|PMID:21476993|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27009842|PMID:27491081|PMID:28492532|PMID:28944238|PMID:29625052|PMID:29641532|PMID:29887214|PMID:30093976|PMID:32984025|PMID:34817745|PMID:36017684|PMID:36035419|PMID:9536098
8791010	Axin2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:15042511|PMID:16199547|PMID:16941501|PMID:17373666|PMID:17576681|PMID:21416598|PMID:21472303|PMID:21476993|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27009842|PMID:27491081|PMID:28492532|PMID:28944238|PMID:29625052|PMID:29641532|PMID:29887214|PMID:30093976|PMID:32984025|PMID:34817745|PMID:36017684|PMID:36035419|PMID:9536098
8791010	Axin2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:15042511|PMID:16199547|PMID:16941501|PMID:17373666|PMID:17576681|PMID:21416598|PMID:21472303|PMID:21476993|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27009842|PMID:27491081|PMID:28492532|PMID:28944238|PMID:29625052|PMID:29641532|PMID:29887214|PMID:30093976|PMID:32984025|PMID:34817745|PMID:36017684|PMID:36035419|PMID:37231433|PMID:9536098
8791010	Axin2	axin 2	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1349667	D	RGD:9068941	20220210	RGD		DNA:SNP::rs2240308, c.148G>A(human)	PMID:31632692|REF_RGD_ID:151356510
8791010	Axin2	axin 2	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:1349667	D	RGD:9068941	20220210	RGD			PMID:29534875|REF_RGD_ID:151356662
8791010	Axin2	axin 2	gene	DOID:9655	oral mucosa leukoplakia	disease_progression	ISO	RGD:1349667	D	RGD:9068941	20220210	RGD			PMID:28939076|REF_RGD_ID:151356661
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:0050884	triosephosphate isomerase deficiency		ISO	RGD:737023	D	RGD:7240710	20180130	OMIM			
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:0050884	triosephosphate isomerase deficiency		ISO	RGD:737023	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY | ClinVar Annotator: match by term: Triose phosphate-isomerase deficiency | ClinVar Annotator: match by term: Triosephosphate isomerase deficiency	PMID:10910933|PMID:25741868|PMID:28492532|PMID:8579052
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:0080600	COVID-19		ISO	RGD:737023	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19374891
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:1115	sarcoma		ISO	RGD:737023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:11476	osteoporosis		ISO	RGD:737023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:737023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:2861	congenital nonspherocytic hemolytic anemia		ISO	RGD:737023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8503454
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:2978	carbohydrate metabolic disorder		ISO	RGD:737023	D	RGD:9068941	20200609	RGD		triosephosphate isomerase deficiency	PMID:9338582|REF_RGD_ID:1599584
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:3275	thymoma		ISO	RGD:737023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:737023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:737023	D	RGD:9068941	20250508	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772|PMID:37676967
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:4362	cervical cancer		ISO	RGD:737023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:440	neuromuscular disease		ISO	RGD:737023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8503454
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:583	hemolytic anemia		ISO	RGD:737023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2876430
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:630	genetic disease		ISO	RGD:737023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:655	inherited metabolic disorder		ISO	RGD:737023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2876430|PMID:8503454
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:9000165	Neuromuscular Manifestations		ISO	RGD:737023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2876430|PMID:8503454
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3896	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina	PMID:17465459|REF_RGD_ID:5147874
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:737023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:737023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
8791026	Tpi1	triosephosphate isomerase 1	gene	DOID:9282	ocular hypertension		ISO	RGD:3896	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina	PMID:18626730|REF_RGD_ID:2303613
8791056	Pbk	PDZ binding kinase	gene	DOID:1115	sarcoma		ISO	RGD:1351038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8791056	Pbk	PDZ binding kinase	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1351038	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8791056	Pbk	PDZ binding kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1351038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8791056	Pbk	PDZ binding kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791056	Pbk	PDZ binding kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351038	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8791056	Pbk	PDZ binding kinase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1351038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8791056	Pbk	PDZ binding kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8791067	Slc7a6os	solute carrier family 7 member 6 opposite strand	gene	DOID:10534	stomach cancer		ISO	RGD:1602091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8791067	Slc7a6os	solute carrier family 7 member 6 opposite strand	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791067	Slc7a6os	solute carrier family 7 member 6 opposite strand	gene	DOID:9003808	Progressive Myoclonus Epilepsy 12		ISO	RGD:1602091	D	RGD:7240710	20210303	OMIM			
8791067	Slc7a6os	solute carrier family 7 member 6 opposite strand	gene	DOID:9003808	Progressive Myoclonus Epilepsy 12		ISO	RGD:1602091	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12	PMID:25741868
8791067	Slc7a6os	solute carrier family 7 member 6 opposite strand	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8791067	Slc7a6os	solute carrier family 7 member 6 opposite strand	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:0080033	craniometaphyseal dysplasia		ISO	RGD:734406	D	RGD:9068941	20220825	MouseDO		OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378	
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:0080801	autosomal dominant craniometaphyseal dysplasia		ISO	RGD:734405	D	RGD:7240710	20180130	OMIM			
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:0080801	autosomal dominant craniometaphyseal dysplasia		ISO	RGD:734405	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant	PMID:25741868|PMID:28492532
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:1059	intellectual disability		ISO	RGD:734405	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:1115	sarcoma		ISO	RGD:734405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:1156	chondrocalcinosis		ISO	RGD:734405	D	RGD:9068941	20260604	RGD			PMID:12297987|REF_RGD_ID:734570
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:1324	lung cancer		ISO	RGD:734405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:227	ankylosis		ISO	RGD:734406	D	RGD:9068941	20240307	CTD		CTD Direct Evidence: marker/mechanism	PMID:32188494
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:2394	ovarian cancer		ISO	RGD:734405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:289	endometriosis		ISO	RGD:734405	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:734405	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:734405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:630	genetic disease		ISO	RGD:734405	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:848	arthritis		ISO	RGD:734406	D	RGD:9068941	20200609	RGD			PMID:10894769|REF_RGD_ID:734569
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:9001031	Retrognathia		ISO	RGD:734405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:734405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:9006590	Chondrocalcinosis 2		ISO	RGD:734405	D	RGD:7240710	20180130	OMIM			
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:9006590	Chondrocalcinosis 2		ISO	RGD:734405	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANKH-related condition | ClinVar Annotator: match by term: CHONDROCALCINOSIS 2 | ClinVar Annotator: match by term: Chondrocalcinosis 2	PMID:12297989|PMID:22647861|PMID:25741868|PMID:28492532|PMID:32860008
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:9007090	Experimental Seizures		ISO	RGD:619925	D	RGD:9068941	20241107	RGD			PMID:12861042|REF_RGD_ID:634632
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:9007661	Dwarfism		ISO	RGD:734405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:9008214	Genu Valgum		ISO	RGD:734405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:25741868
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:734405	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18027777
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:9008739	Athetosis		ISO	RGD:734405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Athetosis	PMID:25741868
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:9009007	Tooth Abnormalities		ISO	RGD:734405	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18027777
8791076	Ankh	ANKH inorganic pyrophosphate transport regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8791098	Exosc10	exosome component 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349336	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8791098	Exosc10	exosome component 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8791098	Exosc10	exosome component 10	gene	DOID:0060058	lymphoma		ISO	RGD:1349336	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8791098	Exosc10	exosome component 10	gene	DOID:10534	stomach cancer		ISO	RGD:1349336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8791098	Exosc10	exosome component 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8791098	Exosc10	exosome component 10	gene	DOID:1115	sarcoma		ISO	RGD:1349336	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8791098	Exosc10	exosome component 10	gene	DOID:1324	lung cancer		ISO	RGD:1349336	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8791098	Exosc10	exosome component 10	gene	DOID:1909	melanoma		ISO	RGD:1349336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8791098	Exosc10	exosome component 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8791098	Exosc10	exosome component 10	gene	DOID:2394	ovarian cancer		ISO	RGD:1349336	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8791098	Exosc10	exosome component 10	gene	DOID:3275	thymoma		ISO	RGD:1349336	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8791098	Exosc10	exosome component 10	gene	DOID:4362	cervical cancer		ISO	RGD:1349336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8791098	Exosc10	exosome component 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349336	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8791098	Exosc10	exosome component 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1349336	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8791098	Exosc10	exosome component 10	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1622350	D	RGD:9068941	20250911	MouseDO			
8791098	Exosc10	exosome component 10	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8791098	Exosc10	exosome component 10	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1349336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8791098	Exosc10	exosome component 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791098	Exosc10	exosome component 10	gene	DOID:6039	uveal melanoma		ISO	RGD:1349336	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8791098	Exosc10	exosome component 10	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1349336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8791098	Exosc10	exosome component 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8791098	Exosc10	exosome component 10	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1349336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8791098	Exosc10	exosome component 10	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8791098	Exosc10	exosome component 10	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1349336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8791098	Exosc10	exosome component 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8791098	Exosc10	exosome component 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8791098	Exosc10	exosome component 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349336	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8791133	Lrrtm1	leucine rich repeat transmembrane neuronal 1	gene	DOID:5419	schizophrenia		ISO	RGD:1622254	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
8791147	Prkch	protein kinase C eta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8791147	Prkch	protein kinase C eta	gene	DOID:0051062	ischemic stroke		ISO	RGD:735345	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ischemic stroke	
8791147	Prkch	protein kinase C eta	gene	DOID:10534	stomach cancer		ISO	RGD:735345	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8791147	Prkch	protein kinase C eta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8791147	Prkch	protein kinase C eta	gene	DOID:1115	sarcoma		ISO	RGD:735345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8791147	Prkch	protein kinase C eta	gene	DOID:1909	melanoma		ISO	RGD:735345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8791147	Prkch	protein kinase C eta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8791147	Prkch	protein kinase C eta	gene	DOID:303	substance-related disorder		ISO	RGD:735345	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8791147	Prkch	protein kinase C eta	gene	DOID:3070	high grade glioma		ISO	RGD:735345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8791147	Prkch	protein kinase C eta	gene	DOID:3275	thymoma		ISO	RGD:735345	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8791147	Prkch	protein kinase C eta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735345	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8791147	Prkch	protein kinase C eta	gene	DOID:5041	esophageal cancer		ISO	RGD:735345	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8791147	Prkch	protein kinase C eta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791147	Prkch	protein kinase C eta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8791147	Prkch	protein kinase C eta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8791147	Prkch	protein kinase C eta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8791147	Prkch	protein kinase C eta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735345	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8791147	Prkch	protein kinase C eta	gene	DOID:9970	obesity		ISO	RGD:735345	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23563609
8791169	Scel	sciellin	gene	DOID:10534	stomach cancer		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8791169	Scel	sciellin	gene	DOID:1115	sarcoma		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8791169	Scel	sciellin	gene	DOID:1324	lung cancer		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8791169	Scel	sciellin	gene	DOID:3275	thymoma		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8791169	Scel	sciellin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8791169	Scel	sciellin	gene	DOID:4362	cervical cancer		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8791169	Scel	sciellin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8791169	Scel	sciellin	gene	DOID:5041	esophageal cancer		ISO	RGD:1312935	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8791169	Scel	sciellin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8791169	Scel	sciellin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791169	Scel	sciellin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8791169	Scel	sciellin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8791222	Cop1	COP1 E3 ubiquitin ligase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8791222	Cop1	COP1 E3 ubiquitin ligase	gene	DOID:10534	stomach cancer		ISO	RGD:1346229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8791222	Cop1	COP1 E3 ubiquitin ligase	gene	DOID:1115	sarcoma		ISO	RGD:1346229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8791222	Cop1	COP1 E3 ubiquitin ligase	gene	DOID:12849	autistic disorder		ISO	RGD:1346229	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19404257
8791222	Cop1	COP1 E3 ubiquitin ligase	gene	DOID:1324	lung cancer		ISO	RGD:1346229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8791222	Cop1	COP1 E3 ubiquitin ligase	gene	DOID:4362	cervical cancer		ISO	RGD:1346229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8791222	Cop1	COP1 E3 ubiquitin ligase	gene	DOID:5041	esophageal cancer		ISO	RGD:1346229	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8791222	Cop1	COP1 E3 ubiquitin ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791222	Cop1	COP1 E3 ubiquitin ligase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8791222	Cop1	COP1 E3 ubiquitin ligase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8791222	Cop1	COP1 E3 ubiquitin ligase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8791222	Cop1	COP1 E3 ubiquitin ligase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8791222	Cop1	COP1 E3 ubiquitin ligase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:733842	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:pancreas	PMID:17114010|REF_RGD_ID:6482236
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:733842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:10283	prostate cancer		ISO	RGD:733842	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:10283	prostate cancer		ISO	RGD:733842	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:1059	intellectual disability		ISO	RGD:733842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:733842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:12849	autistic disorder		ISO	RGD:733842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:13375	temporal arteritis		ISO	RGD:733842	D	RGD:9068941	20200609	RGD		mRNA:increased expression:temporal artery	PMID:21220737|REF_RGD_ID:6482238
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:1826	epilepsy		ISO	RGD:733842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:733842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Head-banging	
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:3275	thymoma		ISO	RGD:733842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:4362	cervical cancer		ISO	RGD:733842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:4621	holoprosencephaly		ISO	RGD:733842	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: alobar holoprosencephaly | ClinVar Annotator: match by term: holoprosencephaly	PMID:28492532
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733842	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:630	genetic disease		ISO	RGD:733842	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31353024|PMID:33057194|PMID:35982159|PMID:35982160
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:9001694	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES		ISO	RGD:733842	D	RGD:7240710	20200115	OMIM			
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:9001694	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES		ISO	RGD:733842	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DLL1-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | ClinVar Annotator: match by term: neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	PMID:17576681|PMID:25741868|PMID:28492532|PMID:31275352|PMID:31353024|PMID:33057194|PMID:34519870|PMID:36590296|PMID:9536098
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:733843	D	RGD:9068941	20200609	RGD			PMID:17947672|REF_RGD_ID:6482235
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:733842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:9005466	Language Development Disorders		ISO	RGD:733842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Speech delay	PMID:25741868
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:9006686	Rajab Interstitial Lung Disease with Brain Calcifications 1		ISO	RGD:733842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1	PMID:25741868
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:9007152	Talipes		ISO	RGD:733842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Talipes	
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:733842	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21127729
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:9007892	Tics		ISO	RGD:733842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Motor tics	PMID:25741868
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8791245	Dll1	delta like canonical Notch ligand 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733842	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21036696
8791260	Qtman	queuosine-tRNA mannosyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8791260	Qtman	queuosine-tRNA mannosyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8791260	Qtman	queuosine-tRNA mannosyltransferase	gene	DOID:2661	myoepithelioma		ISO	RGD:1354274	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8791260	Qtman	queuosine-tRNA mannosyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1354274	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8791260	Qtman	queuosine-tRNA mannosyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791260	Qtman	queuosine-tRNA mannosyltransferase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8791260	Qtman	queuosine-tRNA mannosyltransferase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1354274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8791260	Qtman	queuosine-tRNA mannosyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8791260	Qtman	queuosine-tRNA mannosyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8791291	Ubxn10	UBX domain protein 10	gene	DOID:10534	stomach cancer		ISO	RGD:1318044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8791291	Ubxn10	UBX domain protein 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8791291	Ubxn10	UBX domain protein 10	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8791297	Sdsl	serine dehydratase like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8791297	Sdsl	serine dehydratase like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8791297	Sdsl	serine dehydratase like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8791297	Sdsl	serine dehydratase like	gene	DOID:1115	sarcoma		ISO	RGD:1319395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8791297	Sdsl	serine dehydratase like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8791297	Sdsl	serine dehydratase like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791297	Sdsl	serine dehydratase like	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1319395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8791297	Sdsl	serine dehydratase like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8791335	Trap1	TNF receptor associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8791335	Trap1	TNF receptor associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8791335	Trap1	TNF receptor associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8791335	Trap1	TNF receptor associated protein 1	gene	DOID:14679	VACTERL association		ISO	RGD:1346837	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: VACTERL association	PMID:25741868
8791335	Trap1	TNF receptor associated protein 1	gene	DOID:1909	melanoma		ISO	RGD:1346837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8791335	Trap1	TNF receptor associated protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8791335	Trap1	TNF receptor associated protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1346837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8791335	Trap1	TNF receptor associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8791335	Trap1	TNF receptor associated protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8791335	Trap1	TNF receptor associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791335	Trap1	TNF receptor associated protein 1	gene	DOID:8398	osteoarthritis		ISO	RGD:1346837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8791335	Trap1	TNF receptor associated protein 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1346837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8791335	Trap1	TNF receptor associated protein 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1346837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8791335	Trap1	TNF receptor associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8791335	Trap1	TNF receptor associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8791365	Trim14	tripartite motif containing 14	gene	DOID:10534	stomach cancer		ISO	RGD:1323013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8791365	Trim14	tripartite motif containing 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8791365	Trim14	tripartite motif containing 14	gene	DOID:1909	melanoma		ISO	RGD:1323013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8791365	Trim14	tripartite motif containing 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1323013	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8791365	Trim14	tripartite motif containing 14	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8791365	Trim14	tripartite motif containing 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791365	Trim14	tripartite motif containing 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8791365	Trim14	tripartite motif containing 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8791377	Magt1	magnesium transporter 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8791377	Magt1	magnesium transporter 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731507	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8791377	Magt1	magnesium transporter 1	gene	DOID:0080319	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia		ISO	RGD:731507	D	RGD:7240710	20180130	OMIM			
8791377	Magt1	magnesium transporter 1	gene	DOID:0080319	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia		ISO	RGD:731507	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA | ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia | ClinVar Annotator: match by term: MAGT1-related condition | ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	PMID:16199547|PMID:17576681|PMID:24550228|PMID:25640679|PMID:25741868|PMID:25956530|PMID:27770395|PMID:28353193|PMID:28492532|PMID:31036665|PMID:31993868|PMID:33831577|PMID:9536098
8791377	Magt1	magnesium transporter 1	gene	DOID:0111839	congenital disorder of glycosylation Icc		ISO	RGD:731507	D	RGD:7240710	20190911	OMIM			
8791377	Magt1	magnesium transporter 1	gene	DOID:0111839	congenital disorder of glycosylation Icc		ISO	RGD:731507	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type ICC	PMID:24550228|PMID:25741868|PMID:28492532|PMID:31036665
8791377	Magt1	magnesium transporter 1	gene	DOID:10534	stomach cancer		ISO	RGD:731507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8791377	Magt1	magnesium transporter 1	gene	DOID:13250	diarrhea		ISO	RGD:731507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:28492532
8791377	Magt1	magnesium transporter 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8791377	Magt1	magnesium transporter 1	gene	DOID:4362	cervical cancer		ISO	RGD:731507	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8791377	Magt1	magnesium transporter 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731507	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8791377	Magt1	magnesium transporter 1	gene	DOID:5041	esophageal cancer		ISO	RGD:731507	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8791377	Magt1	magnesium transporter 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8791377	Magt1	magnesium transporter 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:731507	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	
8791377	Magt1	magnesium transporter 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791377	Magt1	magnesium transporter 1	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:731508	D	RGD:9068941	20260521	MouseDO		OMIM:242850	
8791377	Magt1	magnesium transporter 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731507	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8791377	Magt1	magnesium transporter 1	gene	DOID:630	genetic disease		ISO	RGD:731507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8791377	Magt1	magnesium transporter 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731507	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8791377	Magt1	magnesium transporter 1	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:731507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hashimoto thyroiditis	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32499645|PMID:32581362|PMID:9536098
8791377	Magt1	magnesium transporter 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:731507	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: developmental disorder	
8791377	Magt1	magnesium transporter 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8791377	Magt1	magnesium transporter 1	gene	DOID:9256	colorectal cancer		ISO	RGD:731507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8791391	Spint2	serine peptidase inhibitor, Kunitz type 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8791391	Spint2	serine peptidase inhibitor, Kunitz type 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8791391	Spint2	serine peptidase inhibitor, Kunitz type 2	gene	DOID:0060781	congenital secretory sodium diarrhea 3		ISO	RGD:1351424	D	RGD:7240710	20180130	OMIM			
8791391	Spint2	serine peptidase inhibitor, Kunitz type 2	gene	DOID:0060781	congenital secretory sodium diarrhea 3		ISO	RGD:1351424	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital secretory sodium diarrhea 3 | ClinVar Annotator: match by term: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC | ClinVar Annotator: match by term: Diarrhea 3, secretory sodium, congenital, syndromic | ClinVar Annotator: match by term: SPINT2-related condition	PMID:17576681|PMID:19185281|PMID:24142340|PMID:25301953|PMID:25741868|PMID:28492532|PMID:29575628|PMID:30445423|PMID:9536098
8791391	Spint2	serine peptidase inhibitor, Kunitz type 2	gene	DOID:0080074	neural tube defect		ISO	RGD:1351424	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24722141
8791391	Spint2	serine peptidase inhibitor, Kunitz type 2	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1552601	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver:	PMID:21898507|REF_RGD_ID:10043111
8791391	Spint2	serine peptidase inhibitor, Kunitz type 2	gene	DOID:1324	lung cancer		ISO	RGD:1351424	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8791391	Spint2	serine peptidase inhibitor, Kunitz type 2	gene	DOID:13580	cholestasis		ISO	RGD:1552601	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver:	PMID:21898507|REF_RGD_ID:10043111
8791391	Spint2	serine peptidase inhibitor, Kunitz type 2	gene	DOID:13608	biliary atresia		ISO	RGD:1351424	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver:	PMID:21898507|REF_RGD_ID:10043111
8791391	Spint2	serine peptidase inhibitor, Kunitz type 2	gene	DOID:305	carcinoma		ISO	RGD:1351424	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8791391	Spint2	serine peptidase inhibitor, Kunitz type 2	gene	DOID:4362	cervical cancer		ISO	RGD:1351424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8791391	Spint2	serine peptidase inhibitor, Kunitz type 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1351424	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8791391	Spint2	serine peptidase inhibitor, Kunitz type 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791391	Spint2	serine peptidase inhibitor, Kunitz type 2	gene	DOID:630	genetic disease		ISO	RGD:1351424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8791391	Spint2	serine peptidase inhibitor, Kunitz type 2	gene	DOID:780	placenta disease		ISO	RGD:1351424	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24722141
8791391	Spint2	serine peptidase inhibitor, Kunitz type 2	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1351424	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8791391	Spint2	serine peptidase inhibitor, Kunitz type 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1351424	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8791391	Spint2	serine peptidase inhibitor, Kunitz type 2	gene	DOID:9007023	Prenatal Injuries		ISO	RGD:1351424	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24722141
8791391	Spint2	serine peptidase inhibitor, Kunitz type 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1351424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8791405	Ap1s3	adaptor related protein complex 1 subunit sigma 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8791405	Ap1s3	adaptor related protein complex 1 subunit sigma 3	gene	DOID:0111281	psoriasis 15		ISO	RGD:1323403	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AP1S3-related condition	PMID:24033266|PMID:25741868
8791405	Ap1s3	adaptor related protein complex 1 subunit sigma 3	gene	DOID:0111281	psoriasis 15	susceptibility	ISO	RGD:1323403	D	RGD:7240710	20190904	OMIM			
8791405	Ap1s3	adaptor related protein complex 1 subunit sigma 3	gene	DOID:1115	sarcoma		ISO	RGD:1323403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8791405	Ap1s3	adaptor related protein complex 1 subunit sigma 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791405	Ap1s3	adaptor related protein complex 1 subunit sigma 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8791405	Ap1s3	adaptor related protein complex 1 subunit sigma 3	gene	DOID:8893	psoriasis		ISO	RGD:1323403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8791405	Ap1s3	adaptor related protein complex 1 subunit sigma 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8791457	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8791457	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:0060796	hypomyelinating leukodystrophy 12		ISO	RGD:1317575	D	RGD:7240710	20190315	OMIM			
8791457	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:0060796	hypomyelinating leukodystrophy 12		ISO	RGD:1317575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 12 | ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 12	PMID:25741868|PMID:28492532
8791457	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:0060939	dystonia 32		ISO	RGD:1317575	D	RGD:7240710	20211222	OMIM			
8791457	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:0060939	dystonia 32		ISO	RGD:1317575	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Dystonia 32 | ClinVar Annotator: match by term: VPS11-related condition	PMID:25741868|PMID:28492532
8791457	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8791457	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:1324	lung cancer		ISO	RGD:1317575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8791457	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:3275	thymoma		ISO	RGD:1317575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8791457	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8791457	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8791457	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:5041	esophageal cancer		ISO	RGD:1317575	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8791457	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791457	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:630	genetic disease		ISO	RGD:1317575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8791457	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:9004538	Hearing Loss		ISO	RGD:1317575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:26307567|PMID:27120463|PMID:28492532|PMID:32316234
8791480	Kifbp	kinesin family binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317800	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8791480	Kifbp	kinesin family binding protein	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1317800	D	RGD:7240710	20190315	OMIM			
8791480	Kifbp	kinesin family binding protein	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1317800	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: KIFBP-related disorder	PMID:15883926|PMID:18414213|PMID:23427148|PMID:24072599|PMID:24901346|PMID:25741868|PMID:26467025|PMID:28277559|PMID:28492532|PMID:32939943|PMID:39033378
8791480	Kifbp	kinesin family binding protein	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1317800	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GOLDBERG-SHPRINTZEN SYNDROME | ClinVar Annotator: match by term: Goldberg-Shprintzen Syndrome | ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: KIFBP-related disorder	PMID:15883926|PMID:18414213|PMID:23427148|PMID:24901346|PMID:25741868|PMID:28277559|PMID:28492532|PMID:3293994|PMID:32939943
8791480	Kifbp	kinesin family binding protein	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1317800	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15883926
8791480	Kifbp	kinesin family binding protein	gene	DOID:0110488	autosomal recessive nonsyndromic deafness 3		ISO	RGD:1317800	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 3	PMID:25741868|PMID:28492532
8791480	Kifbp	kinesin family binding protein	gene	DOID:1059	intellectual disability		ISO	RGD:1317800	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15883926
8791480	Kifbp	kinesin family binding protein	gene	DOID:10907	microcephaly		ISO	RGD:1317800	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15883926
8791480	Kifbp	kinesin family binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8791480	Kifbp	kinesin family binding protein	gene	DOID:1826	epilepsy		ISO	RGD:1317800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy	
8791480	Kifbp	kinesin family binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1317800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8791480	Kifbp	kinesin family binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791480	Kifbp	kinesin family binding protein	gene	DOID:870	neuropathy		ISO	RGD:1317800	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868
8791480	Kifbp	kinesin family binding protein	gene	DOID:9007185	Shprintzen-Goldberg Craniosynostosis		ISO	RGD:1317800	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GOLDBERG-SHPRINTZEN SYNDROME | ClinVar Annotator: match by term: Goldberg-Shprintzen Syndrome | ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome	PMID:15883926|PMID:18414213|PMID:23427148|PMID:24901346|PMID:25741868|PMID:28492532|PMID:3293994|PMID:32939943
8791480	Kifbp	kinesin family binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8791496	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8791496	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:10534	stomach cancer		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8791496	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8791496	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:1115	sarcoma		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8791496	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:1324	lung cancer		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8791496	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:1909	melanoma		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8791496	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8791496	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:3070	high grade glioma		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8791496	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:3275	thymoma		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8791496	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:4362	cervical cancer		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8791496	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1319556	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8791496	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8791496	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791496	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8791496	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8791496	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8791496	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8791544	Clic1	chloride intracellular channel 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8791544	Clic1	chloride intracellular channel 1	gene	DOID:1115	sarcoma		ISO	RGD:1353337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8791544	Clic1	chloride intracellular channel 1	gene	DOID:1909	melanoma		ISO	RGD:1353337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8791544	Clic1	chloride intracellular channel 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1353337	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
8791544	Clic1	chloride intracellular channel 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8791544	Clic1	chloride intracellular channel 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353337	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8791544	Clic1	chloride intracellular channel 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1353337	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8791544	Clic1	chloride intracellular channel 1	gene	DOID:8398	osteoarthritis		ISO	RGD:1353337	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8791544	Clic1	chloride intracellular channel 1	gene	DOID:9000058	Keloid		ISO	RGD:1353337	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
8791544	Clic1	chloride intracellular channel 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1353337	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20562527
8791544	Clic1	chloride intracellular channel 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1353337	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8791544	Clic1	chloride intracellular channel 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1353337	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20562527
8791544	Clic1	chloride intracellular channel 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8791564	Itga9	integrin subunit alpha 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8791564	Itga9	integrin subunit alpha 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8791564	Itga9	integrin subunit alpha 9	gene	DOID:0060646	congenital chylothorax		ISO	RGD:1322519	D	RGD:9068941	20220825	MouseDO		OMIM:603523	
8791564	Itga9	integrin subunit alpha 9	gene	DOID:10534	stomach cancer		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8791564	Itga9	integrin subunit alpha 9	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:1322518	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs155524(human)	PMID:20479155|REF_RGD_ID:13602005
8791564	Itga9	integrin subunit alpha 9	gene	DOID:1324	lung cancer		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8791564	Itga9	integrin subunit alpha 9	gene	DOID:1793	pancreatic cancer		ISO	RGD:1322518	D	RGD:9068941	20200609	RGD		DNA:mutations:exon	PMID:18772397|REF_RGD_ID:5490966
8791564	Itga9	integrin subunit alpha 9	gene	DOID:1909	melanoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8791564	Itga9	integrin subunit alpha 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8791564	Itga9	integrin subunit alpha 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8791564	Itga9	integrin subunit alpha 9	gene	DOID:3275	thymoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8791564	Itga9	integrin subunit alpha 9	gene	DOID:3526	cerebral infarction	susceptibility	ISO	RGD:1322518	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype:rs189897,rs2212020(human)	PMID:21764681|REF_RGD_ID:13602007
8791564	Itga9	integrin subunit alpha 9	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1322518	D	RGD:9068941	20220908	RGD		mRNA:decreased expression:lung (human)	PMID:22491060|REF_RGD_ID:153350086
8791564	Itga9	integrin subunit alpha 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791564	Itga9	integrin subunit alpha 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8791564	Itga9	integrin subunit alpha 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8791564	Itga9	integrin subunit alpha 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8791564	Itga9	integrin subunit alpha 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8791564	Itga9	integrin subunit alpha 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8791595	Ncapd3	non-SMC condensin II complex subunit D3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8791595	Ncapd3	non-SMC condensin II complex subunit D3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8791595	Ncapd3	non-SMC condensin II complex subunit D3	gene	DOID:0051033	primary autosomal recessive microcephaly 22		ISO	RGD:1603696	D	RGD:7240710	20190315	OMIM			
8791595	Ncapd3	non-SMC condensin II complex subunit D3	gene	DOID:0051033	primary autosomal recessive microcephaly 22		ISO	RGD:1603696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 22, primary, autosomal recessive | ClinVar Annotator: match by term: NCAPD3-related condition	PMID:25741868|PMID:28492532
8791595	Ncapd3	non-SMC condensin II complex subunit D3	gene	DOID:10534	stomach cancer		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8791595	Ncapd3	non-SMC condensin II complex subunit D3	gene	DOID:1059	intellectual disability		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8791595	Ncapd3	non-SMC condensin II complex subunit D3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8791595	Ncapd3	non-SMC condensin II complex subunit D3	gene	DOID:1115	sarcoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8791595	Ncapd3	non-SMC condensin II complex subunit D3	gene	DOID:1324	lung cancer		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8791595	Ncapd3	non-SMC condensin II complex subunit D3	gene	DOID:1909	melanoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8791595	Ncapd3	non-SMC condensin II complex subunit D3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8791595	Ncapd3	non-SMC condensin II complex subunit D3	gene	DOID:3275	thymoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8791595	Ncapd3	non-SMC condensin II complex subunit D3	gene	DOID:4362	cervical cancer		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8791595	Ncapd3	non-SMC condensin II complex subunit D3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8791595	Ncapd3	non-SMC condensin II complex subunit D3	gene	DOID:5041	esophageal cancer		ISO	RGD:1603696	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8791595	Ncapd3	non-SMC condensin II complex subunit D3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791595	Ncapd3	non-SMC condensin II complex subunit D3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8791595	Ncapd3	non-SMC condensin II complex subunit D3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8791595	Ncapd3	non-SMC condensin II complex subunit D3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8791595	Ncapd3	non-SMC condensin II complex subunit D3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8791595	Ncapd3	non-SMC condensin II complex subunit D3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8791634	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8791634	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:2937319	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
8791634	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8791634	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:1115	sarcoma		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8791634	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:2937319	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Autism	
8791634	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:1324	lung cancer		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8791634	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:1909	melanoma		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8791634	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8791634	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:3312	bipolar disorder		ISO	RGD:2937319	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
8791634	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8791634	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8791634	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791634	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8791634	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8791634	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8791634	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8791634	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8791664	Cd99l2	CD99 molecule like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8791664	Cd99l2	CD99 molecule like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8791664	Cd99l2	CD99 molecule like 2	gene	DOID:10534	stomach cancer		ISO	RGD:735542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8791664	Cd99l2	CD99 molecule like 2	gene	DOID:3429	inclusion body myositis		ISO	RGD:735542	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Inclusion body myositis	PMID:25741868
8791664	Cd99l2	CD99 molecule like 2	gene	DOID:4362	cervical cancer		ISO	RGD:735542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8791664	Cd99l2	CD99 molecule like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:735542	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8791664	Cd99l2	CD99 molecule like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791664	Cd99l2	CD99 molecule like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8791664	Cd99l2	CD99 molecule like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8791664	Cd99l2	CD99 molecule like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute Myeloid Leukemia	
8791676	Izumo1	izumo sperm-oocyte fusion 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1603171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome	PMID:26628246|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28188106|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34606182|PMID:34646395|PMID:34653963|PMID:35039564|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome	PMID:9872980|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:26628246|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:26628246|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31403082|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31403082|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35047863|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35710434|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36315919|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25741916|PMID:25742471|PMID:25793145
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29485843|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36790564|PMID:36988593|PMID:37009283|PMID:37262986|PMID:37438524|PMID:37445923|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25793145
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36790564|PMID:36988593|PMID:37009283|PMID:37262986|PMID:37438524|PMID:37445923|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25877891
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36790564|PMID:36988593|PMID:37009283|PMID:37438524|PMID:37445923|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36790564|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37438524|PMID:37445923|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36790564|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37438524|PMID:37445923|PMID:37529773|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36790564|PMID:36898365|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37438524|PMID:37445923|PMID:37529773|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome	PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36790564|PMID:36898365|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37529773|PMID:37581139|PMID:37628581|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38355628|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17923702|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24584352|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25249249|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:25640679|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677030|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30709382|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33916788|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35585550|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36018153|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36703223|PMID:36704080|PMID:36781323|PMID:36790564|PMID:36845387|PMID:36898365|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37529773|PMID:37581139|PMID:37628581|PMID:37656691|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38355628|PMID:38489015|PMID:38509102|PMID:38854973|PMID:39085400|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:25640679|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677030|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27659017|PMID:27664052|PMID:27692705|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30709382|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32366930|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33916788|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35076389|PMID:35078243|PMID:35095854|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35218119|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36018153|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36119527|PMID:36161273|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36703223|PMID:36704080|PMID:36781323|PMID:36790564|PMID:36845387|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37009283|PMID:37013556|PMID:37091313|PMID:37201465|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37529773|PMID:37581139|PMID:37628581|PMID:37656691|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38355628|PMID:38489015|PMID:38496821|PMID:38509102|PMID:38570878|PMID:38854973|PMID:39085400|PMID:39226054|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17923702|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20054297|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21732128|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24120057|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24584352|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24726177|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25249249|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677030|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27659017|PMID:27664052|PMID:27692705|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28625278|PMID:28652578|PMID:28687356|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30709382|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31428572
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32366930|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33916788|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34387910|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35076389|PMID:35078243|PMID:35095854|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35218119|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36018153|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36119527|PMID:36161273|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36703223|PMID:36704080|PMID:36781323|PMID:36790564|PMID:36845387|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37009283|PMID:37013556|PMID:37091313|PMID:37201465|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37529773|PMID:37581139|PMID:37628581|PMID:37656691|PMID:37930190|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38313678|PMID:38355628|PMID:38489015|PMID:38496821|PMID:38509102|PMID:38570878|PMID:38854973|PMID:39085400|PMID:39226054|PMID:39636577|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27978560|PMID:27988859|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28188106|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30128536|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31882575|PMID:31920950|PMID:31921681|PMID:32039725|PMID:32125938|PMID:32183364|PMID:32566746|PMID:32601921|PMID:32832836|PMID:32860008|PMID:32906206|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33558524|PMID:33747920|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9792409|PMID:9887333
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33558524|PMID:33747920|PMID:33919281|PMID:34067464|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9887333
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35264596|PMID:35365198|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35264596|PMID:35365198|PMID:36315919|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29058119|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35154108|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35763645|PMID:36315919|PMID:36704080|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29058119|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33098801
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:33239428|PMID:33280026|PMID:33309985|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35708139|PMID:35734982|PMID:35763645|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36568162|PMID:36704080|PMID:36988593|PMID:37262986|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28495237|PMID:28608266|PMID:28652578|PMID:28724467|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32832836
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33098801|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35402282|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35886069|PMID:36091166|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36704080|PMID:36988593|PMID:37262986|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18497957|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28495237|PMID:28608266|PMID:28652578|PMID:28724467|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35402282|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35886069|PMID:36091166|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36704080|PMID:36988593|PMID:37262986|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18497957|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26270727|PMID:26296696|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28495237|PMID:28608266|PMID:28652578|PMID:28724467|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32295079
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:32338768|PMID:32427313|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35402282|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35886069|PMID:36091166|PMID:36119527|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36704080|PMID:36988593|PMID:37091313|PMID:37262986|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35402282|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:36091166|PMID:36094610|PMID:36119527|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36703223|PMID:36704080|PMID:36845387|PMID:36983044|PMID:36988593|PMID:37091313|PMID:37262986|PMID:38147532|PMID:38489015|PMID:38854973|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:2394	ovarian cancer		ISO	RGD:1603171	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer	PMID:10330348|PMID:11756185|PMID:12552559|PMID:17576681|PMID:21933854|PMID:22585167|PMID:23807571|PMID:25032865|PMID:25326635|PMID:25503501|PMID:25614872|PMID:25741868|PMID:26094658|PMID:26270727|PMID:26467025|PMID:26681312|PMID:28007021|PMID:28008555|PMID:28492532|PMID:30322717|PMID:30549301|PMID:31050087|PMID:8659541|PMID:9463314|PMID:9536098|PMID:9872980
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:3275	thymoma		ISO	RGD:1603171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1603171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1603171	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24451234|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32853339|PMID:33095795|PMID:33134171|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33630411|PMID:33747920|PMID:33850299|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32853339|PMID:33095795|PMID:33134171|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32853339|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32853339|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32853339|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35892882|PMID:35893033|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9887333
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:34755017|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9887333
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:34755017|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9764584|PMID:9887333
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:34755017|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9887333
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25502423|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34117267|PMID:34250417|PMID:34262154|PMID:34299313|PMID:34646395|PMID:34755017|PMID:35039564
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:35047863|PMID:35245693|PMID:35264596|PMID:35708139|PMID:35763645|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25040471|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25502423|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34299313|PMID:34337741|PMID:34646395|PMID:34680878|PMID:34755017|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35245693|PMID:35264596|PMID:35312250|PMID:35708139|PMID:35716007|PMID:35763645|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36243179|PMID:36521553|PMID:36568162|PMID:36988593|PMID:581456|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25741916|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29478780|PMID:29482223|PMID:29485843|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34445196|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35708139|PMID:35716007|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36243179|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36988593|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34445196|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35708139|PMID:35716007|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36243179|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36988593|PMID:38017116|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35708139|PMID:35716007|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36243179|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36988593|PMID:38017116|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35708139|PMID:35716007|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36243179|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36988593|PMID:37091313|PMID:38017116|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35467778|PMID:35708139|PMID:35716007|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27142713|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29478780|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35467778|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25326637|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27142713|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35467778|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35467778|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27142713|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30447919
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30413523|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36703223|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:38489015|PMID:38854973|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27142713|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29958926|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30413523|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35218119|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36703223|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:38489015|PMID:38854973|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27142713|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29958926|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35218119|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36703223|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:38489015|PMID:38496821|PMID:38854973|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12883528|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27142713|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28625278|PMID:28652578|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29522266|PMID:29555025|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:29958926|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35218119|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36703223|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:38313678|PMID:38489015|PMID:38496821|PMID:38854973|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9259193|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12883528|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27142713|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28625278|PMID:28652578|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29522266|PMID:29555025|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:29958926|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35218119|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35358259|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36703223|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:38118367|PMID:38136308|PMID:38313678|PMID:38489015|PMID:38496821|PMID:38673061|PMID:38734904|PMID:38854973|PMID:38896321|PMID:38917355|PMID:39085400|PMID:39122510|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9259193|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24451234|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28188106|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32125938|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33134171|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33747920|PMID:33850299|PMID:34299313|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34350294|PMID:34359559
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:34371384|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35201558|PMID:35260754|PMID:35309086|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250417|PMID:34262154|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35806449|PMID:35892882|PMID:35893033|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:33163394|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35047863|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35710434|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36315919|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35047863|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35710434|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36315919|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35047863|PMID:35154108|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35666082|PMID:35710434|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36315919|PMID:36704080|PMID:36988593|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35047863|PMID:35127508|PMID:35154108|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35534704|PMID:35666082|PMID:35710434|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36315919|PMID:36568162|PMID:36704080|PMID:36988593|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:34949663|PMID:35039564|PMID:35047863|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36568162|PMID:36704080|PMID:36988593|PMID:37262986|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25741916|PMID:25742471|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29485843|PMID:29489040|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36988593|PMID:37009283|PMID:37262986|PMID:37438524|PMID:37445923|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36988593|PMID:37009283|PMID:37262986|PMID:37438524|PMID:37445923|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37438524|PMID:37445923|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37438524|PMID:37445923|PMID:37529773|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37529773|PMID:37581139|PMID:37628581|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38355628|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1603171	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12195425|PMID:12552559|PMID:16958054|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22649200|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32853339|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9537233
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29664460|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30713859|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33916788|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34949663|PMID:34954471|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35585550|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36018153|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36119527|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36703223|PMID:36704080|PMID:36781323|PMID:36845387|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37529773|PMID:37581139|PMID:37628581|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38355628|PMID:38489015|PMID:38509102|PMID:38854973|PMID:39085400|PMID:4012663|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10571946|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24584352|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25249249|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25957637|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10571946|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24584352|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25249249|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25957637|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29664460|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30713859|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33916788|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34949663|PMID:34954471|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35095854|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35218119|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36018153|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36119527|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36703223|PMID:36704080|PMID:36781323|PMID:36845387|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37013556|PMID:37091313|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37529773|PMID:37581139|PMID:37628581|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38355628|PMID:38489015|PMID:38509102|PMID:38854973|PMID:39085400|PMID:4012663|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29664460|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30713859|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32366930|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33916788|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34949663|PMID:34954471|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35095854|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35218119|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36018153|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36119527|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36703223|PMID:36704080|PMID:36781323|PMID:36845387|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37013556|PMID:37091313|PMID:37201465|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37529773|PMID:37581139|PMID:37628581|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38355628|PMID:38489015|PMID:38496821|PMID:38509102|PMID:38570878|PMID:38854973|PMID:39085400|PMID:39226054|PMID:4012663|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9009054	Colorectal Cancer 10		ISO	RGD:11093010	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 10	PMID:25741868|PMID:25980754|PMID:28492532|PMID:33471991
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9009054	Colorectal Cancer 10		ISO	RGD:12898667	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer type X	PMID:17968022|PMID:25741868|PMID:28492532
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9009054	Colorectal Cancer 10		ISO	RGD:9851325	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer type X	PMID:25741868|PMID:26467025|PMID:28492532|PMID:28779002|PMID:30287823
8791690	CUNH11orf65	chromosome unknown C11orf65 homolog	gene	DOID:9256	colorectal cancer		ISO	RGD:1603171	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:10330348|PMID:10817650|PMID:10980530|PMID:12646636|PMID:15039971|PMID:16266405|PMID:21665257|PMID:21833744|PMID:25374739|PMID:25614872|PMID:25741868|PMID:26681312|PMID:27433846|PMID:28492532|PMID:29360161|PMID:30067863|PMID:31159747|PMID:32295079|PMID:9443866|PMID:9887333
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1605671	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:25741868
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:0060466	gingival fibromatosis		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingival fibromatosis	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:0070297	primary microcephaly		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:0110087	asphyxiating thoracic dystrophy 3		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3	PMID:23910462|PMID:28492532|PMID:29068549|PMID:9068549
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:0110094	short-rib thoracic dysplasia 8 with or without polydactyly		ISO	RGD:1605671	D	RGD:7240710	20180130	OMIM			
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:0110094	short-rib thoracic dysplasia 8 with or without polydactyly		ISO	RGD:1605671	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: DYNC2I1-related condition | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 8 with or without polydactyly | ClinVar Annotator: match by term: short-rib thoracic dysplasia 8 with or without polydactyly	PMID:16199547|PMID:17576681|PMID:23910462|PMID:24033266|PMID:25492405|PMID:25640679|PMID:25741868|PMID:28422394|PMID:28492532|PMID:29068549|PMID:30320547|PMID:9068549|PMID:9536098
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:1115	sarcoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:11830	myopia		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:1909	melanoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:2468	psychotic disorder		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:3275	thymoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605671	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:535	sleep disorder		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:630	genetic disease		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:6543	acne		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acne	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:799	varicose veins		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Varicose disease	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:8741	seborrheic dermatitis		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seborrheic dermatitis	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9000053	Headache		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9000363	Hematuria		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematuria	PMID:25741868
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9001224	Striae Distensae		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9003591	Telecanthus		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9004992	Apnea		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9005616	Micrognathism		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9005890	Disproportionate Tall Stature		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate tall stature	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9006617	Fatigue		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9006743	Spasm		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9007152	Talipes		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Talipes	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:28492532
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8791703	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9884	muscular dystrophy		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868|PMID:28492532
8791731	Cbr1	carbonyl reductase 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737546	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11016643
8791731	Cbr1	carbonyl reductase 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:737546	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8791731	Cbr1	carbonyl reductase 1	gene	DOID:0080600	COVID-19		ISO	RGD:737546	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8791731	Cbr1	carbonyl reductase 1	gene	DOID:2772	irritant dermatitis		ISO	RGD:737546	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25818598
8791731	Cbr1	carbonyl reductase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737546	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21056497
8791731	Cbr1	carbonyl reductase 1	gene	DOID:783	end stage renal disease		ISO	RGD:737546	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26282591
8791731	Cbr1	carbonyl reductase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737546	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8791731	Cbr1	carbonyl reductase 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:737546	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21056497
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:28492532
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:0050776	non-syndromic X-linked intellectual disability		ISO	RGD:1342594	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: non-syndromic X-linked intellectual disability	PMID:25741868|PMID:28492532
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:0070309	absence epilepsy		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868|PMID:28492532|PMID:31452935|PMID:35982159|PMID:37359369
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:0080600	COVID-19		ISO	RGD:1342594	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:28492532
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:0112060	Raynaud-Claes syndrome		ISO	RGD:1342594	D	RGD:7240710	20180130	OMIM			
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:0112060	Raynaud-Claes syndrome		ISO	RGD:1342594	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CLCN4-related X-linked intellectual disability syndrome | ClinVar Annotator: match by term: CLCN4-related condition | ClinVar Annotator: match by term: CLCN4-related disorder | ClinVar Annotator: match by term: RAYNAUD-CLAES SYNDROME	PMID:19377476|PMID:25644381|PMID:25741868|PMID:27550844|PMID:28492532|PMID:30919572|PMID:31452935|PMID:31785789|PMID:33504798|PMID:33880059|PMID:35982159|PMID:36385166|PMID:37359369
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:10348	blepharophimosis		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:25741868
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:1059	intellectual disability		ISO	RGD:1342594	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:19377476|PMID:25741868|PMID:27550844|PMID:30919572|PMID:31785789|PMID:33504798|PMID:36385166
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:1059	intellectual disability		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: intellectual disability	PMID:19377476|PMID:25741868|PMID:27550844|PMID:28492532|PMID:30919572|PMID:31452935|PMID:31785789|PMID:33504798|PMID:33880059|PMID:35982159|PMID:36385166|PMID:37359369
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:10907	microcephaly		ISO	RGD:1342594	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:1143	exotropia		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:28492532
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:11782	astigmatism		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:28492532
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:11830	myopia		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:12638	hypertrophic pyloric stenosis		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypertrophic pyloric stenosis	PMID:25741868
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:12849	autistic disorder		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:1682	congenital heart disease		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:1824	status epilepticus		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:25741868
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:1826	epilepsy		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:28972156|PMID:31452935|PMID:35982159|PMID:37359369
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:1909	melanoma		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:1969	cerebral palsy		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:2234	focal epilepsy		ISO	RGD:1342594	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:23647072|PMID:25741868|PMID:28492532|PMID:31452935|PMID:35982159|PMID:37359369
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:2841	asthma		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal clonic seizure	PMID:25741868
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:27550844
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:535	sleep disorder		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:540	strabismus		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:5419	schizophrenia		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:630	genetic disease		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19377476|PMID:25741868|PMID:27550844|PMID:28492532|PMID:30919572|PMID:31785789|PMID:33504798|PMID:35599849|PMID:36385166|PMID:38758281
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:8927	learning disability		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment | ClinVar Annotator: match by term: Mental deterioration	PMID:25741868
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:9003132	Sialorrhea		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:9003133	Hypertelorism		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:9003760	Myalgia		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:28492532
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:9003816	Macrocephaly		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:36385166
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:9004538	Hearing Loss		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:28492532
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:9004866	Ataxia		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1342594	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:23647072|PMID:25741868|PMID:28492532
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:9006065	Arthralgia		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:28492532
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532|PMID:31690835
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:9007573	Flatfoot		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:9008023	Memory Disorders		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532|PMID:31452935|PMID:35982159|PMID:37359369
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1342594	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23647072|PMID:25741868|PMID:28492532
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8791740	Clcn4	Cl-/H+ antiporter 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8791777	Gapt	GRB2 binding adaptor protein, transmembrane	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8791777	Gapt	GRB2 binding adaptor protein, transmembrane	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791785	Msn	moesin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8791785	Msn	moesin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8791785	Msn	moesin	gene	DOID:0112001	immunodeficiency 50		ISO	RGD:732547	D	RGD:7240710	20190315	OMIM			
8791785	Msn	moesin	gene	DOID:0112001	immunodeficiency 50		ISO	RGD:732547	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency due to moesin deficiency | ClinVar Annotator: match by term: MSN-related condition	PMID:25741868|PMID:28492532
8791785	Msn	moesin	gene	DOID:10534	stomach cancer		ISO	RGD:732547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8791785	Msn	moesin	gene	DOID:1115	sarcoma		ISO	RGD:732547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8791785	Msn	moesin	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:621260	D	RGD:9068941	20241226	RGD		protein:increased phosphorylation:liver, blood vessel:	PMID:16492715|REF_RGD_ID:2298879
8791785	Msn	moesin	gene	DOID:12849	autistic disorder		ISO	RGD:732547	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism	
8791785	Msn	moesin	gene	DOID:1324	lung cancer		ISO	RGD:732547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8791785	Msn	moesin	gene	DOID:2394	ovarian cancer		ISO	RGD:732547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8791785	Msn	moesin	gene	DOID:3070	high grade glioma		ISO	RGD:732547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8791785	Msn	moesin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8791785	Msn	moesin	gene	DOID:4362	cervical cancer		ISO	RGD:732547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8791785	Msn	moesin	gene	DOID:5041	esophageal cancer		ISO	RGD:732547	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8791785	Msn	moesin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791785	Msn	moesin	gene	DOID:630	genetic disease		ISO	RGD:732547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8791785	Msn	moesin	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:732547	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8791785	Msn	moesin	gene	DOID:8398	osteoarthritis		ISO	RGD:732547	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8791785	Msn	moesin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:732547	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8791785	Msn	moesin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8791785	Msn	moesin	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:732547	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8791785	Msn	moesin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8791806	Polr2i	RNA polymerase II subunit I	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8791806	Polr2i	RNA polymerase II subunit I	gene	DOID:1324	lung cancer		ISO	RGD:1319717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8791806	Polr2i	RNA polymerase II subunit I	gene	DOID:1909	melanoma		ISO	RGD:1319717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8791806	Polr2i	RNA polymerase II subunit I	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791806	Polr2i	RNA polymerase II subunit I	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8791806	Polr2i	RNA polymerase II subunit I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8791806	Polr2i	RNA polymerase II subunit I	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8791834	Eid1	EP300 interacting inhibitor of differentiation 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1348426	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15920167
8791845	Epha7	EPH receptor A7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8791845	Epha7	EPH receptor A7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8791845	Epha7	EPH receptor A7	gene	DOID:1059	intellectual disability		ISO	RGD:732959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:15996548|PMID:25741868
8791845	Epha7	EPH receptor A7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8791845	Epha7	EPH receptor A7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8791845	Epha7	EPH receptor A7	gene	DOID:3275	thymoma		ISO	RGD:732959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8791845	Epha7	EPH receptor A7	gene	DOID:4362	cervical cancer		ISO	RGD:732959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8791845	Epha7	EPH receptor A7	gene	DOID:5041	esophageal cancer		ISO	RGD:732959	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8791845	Epha7	EPH receptor A7	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:732959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941188
8791845	Epha7	EPH receptor A7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791845	Epha7	EPH receptor A7	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:70957	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:16983667|REF_RGD_ID:2301957
8791845	Epha7	EPH receptor A7	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:732959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30357299
8791845	Epha7	EPH receptor A7	gene	DOID:9008217	Hemorrhage		ISO	RGD:732959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30357299
8791845	Epha7	EPH receptor A7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8791886	Arid3b	AT-rich interaction domain 3B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8791886	Arid3b	AT-rich interaction domain 3B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8791886	Arid3b	AT-rich interaction domain 3B	gene	DOID:1324	lung cancer		ISO	RGD:1314897	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8791886	Arid3b	AT-rich interaction domain 3B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8791886	Arid3b	AT-rich interaction domain 3B	gene	DOID:4362	cervical cancer		ISO	RGD:1314897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8791886	Arid3b	AT-rich interaction domain 3B	gene	DOID:5041	esophageal cancer		ISO	RGD:1314897	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8791886	Arid3b	AT-rich interaction domain 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791886	Arid3b	AT-rich interaction domain 3B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8791910	Myo1e	myosin IE	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8791910	Myo1e	myosin IE	gene	DOID:0080600	COVID-19		ISO	RGD:1350355	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8791910	Myo1e	myosin IE	gene	DOID:0111131	focal segmental glomerulosclerosis 6		ISO	RGD:1350355	D	RGD:7240710	20180130	OMIM			
8791910	Myo1e	myosin IE	gene	DOID:0111131	focal segmental glomerulosclerosis 6		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 | ClinVar Annotator: match by term: MYO1E-related condition	PMID:21756023|PMID:25741868|PMID:28492532|PMID:33532864
8791910	Myo1e	myosin IE	gene	DOID:0111365	benign familial hematuria		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microscopic hematuria	PMID:21756023|PMID:23349334|PMID:24033266|PMID:25741868|PMID:28492532
8791910	Myo1e	myosin IE	gene	DOID:10534	stomach cancer		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8791910	Myo1e	myosin IE	gene	DOID:10908	hydrocephalus		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:28492532
8791910	Myo1e	myosin IE	gene	DOID:10952	nephritis		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephritis	PMID:28492532
8791910	Myo1e	myosin IE	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8791910	Myo1e	myosin IE	gene	DOID:1115	sarcoma		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8791910	Myo1e	myosin IE	gene	DOID:11476	osteoporosis		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:28492532
8791910	Myo1e	myosin IE	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1350355	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:25741868|PMID:29127259
8791910	Myo1e	myosin IE	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1350355	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8791910	Myo1e	myosin IE	gene	DOID:1596	depressive disorder		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
8791910	Myo1e	myosin IE	gene	DOID:2030	anxiety disorder		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8791910	Myo1e	myosin IE	gene	DOID:2841	asthma		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
8791910	Myo1e	myosin IE	gene	DOID:3275	thymoma		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8791910	Myo1e	myosin IE	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8791910	Myo1e	myosin IE	gene	DOID:4362	cervical cancer		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8791910	Myo1e	myosin IE	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8791910	Myo1e	myosin IE	gene	DOID:5041	esophageal cancer		ISO	RGD:1350355	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8791910	Myo1e	myosin IE	gene	DOID:5419	schizophrenia		ISO	RGD:1350355	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8791910	Myo1e	myosin IE	gene	DOID:557	kidney disease		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:21756023|PMID:23349334|PMID:24033266|PMID:25741868|PMID:28492532
8791910	Myo1e	myosin IE	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791910	Myo1e	myosin IE	gene	DOID:576	proteinuria		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:28492532
8791910	Myo1e	myosin IE	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8791910	Myo1e	myosin IE	gene	DOID:630	genetic disease		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8791910	Myo1e	myosin IE	gene	DOID:784	chronic kidney disease		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:28492532
8791910	Myo1e	myosin IE	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
8791910	Myo1e	myosin IE	gene	DOID:9003133	Hypertelorism		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:28492532
8791910	Myo1e	myosin IE	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8791910	Myo1e	myosin IE	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:28492532
8791910	Myo1e	myosin IE	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8791910	Myo1e	myosin IE	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8791910	Myo1e	myosin IE	gene	DOID:9351	diabetes mellitus		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:28492532
8791910	Myo1e	myosin IE	gene	DOID:987	alopecia		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alopecia	PMID:28492532
8791910	Myo1e	myosin IE	gene	DOID:9970	obesity		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
8791941	Serac1	serine active site containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:37432431|PMID:9536098
8791941	Serac1	serine active site containing 1	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1349770	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder	PMID:24033266
8791941	Serac1	serine active site containing 1	gene	DOID:0110001	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome		ISO	RGD:1349770	D	RGD:7240710	20180130	OMIM			
8791941	Serac1	serine active site containing 1	gene	DOID:0110001	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome		ISO	RGD:1349770	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL | ClinVar Annotator: match by term: MEGDEL syndrome | ClinVar Annotator: match by term: SERAC1-related disorder | ClinVar Annotator: match by term: SERAC1-related neurological disorder	PMID:16199547|PMID:17576681|PMID:22683713|PMID:23707711|PMID:24033266|PMID:24997715|PMID:25016221|PMID:25741868|PMID:27604308|PMID:28482397|PMID:28492532|PMID:28778788|PMID:29205472|PMID:29686941|PMID:31251474|PMID:32005694|PMID:32313153|PMID:33613893|PMID:35094435|PMID:36413997|PMID:37432431|PMID:37712079|PMID:38703036|PMID:40714654|PMID:9536098
8791941	Serac1	serine active site containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8791941	Serac1	serine active site containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8791941	Serac1	serine active site containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8791941	Serac1	serine active site containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8791941	Serac1	serine active site containing 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8791941	Serac1	serine active site containing 1	gene	DOID:3146	lipid metabolism disorder		ISO	RGD:1349770	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22683713
8791941	Serac1	serine active site containing 1	gene	DOID:3275	thymoma		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8791941	Serac1	serine active site containing 1	gene	DOID:3652	Leigh disease		ISO	RGD:1349770	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868
8791941	Serac1	serine active site containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8791941	Serac1	serine active site containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349770	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8791941	Serac1	serine active site containing 1	gene	DOID:543	dystonia		ISO	RGD:1349770	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22683713
8791941	Serac1	serine active site containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8791941	Serac1	serine active site containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8791941	Serac1	serine active site containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8791941	Serac1	serine active site containing 1	gene	DOID:630	genetic disease		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:37432431|PMID:9536098
8791941	Serac1	serine active site containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8791941	Serac1	serine active site containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
8791941	Serac1	serine active site containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8791941	Serac1	serine active site containing 1	gene	DOID:9008681	Deafness		ISO	RGD:1349770	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22683713
8791941	Serac1	serine active site containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8791941	Serac1	serine active site containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8791997	Tcea3	transcription elongation factor A3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8791997	Tcea3	transcription elongation factor A3	gene	DOID:5041	esophageal cancer		ISO	RGD:1322790	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8791997	Tcea3	transcription elongation factor A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8791997	Tcea3	transcription elongation factor A3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8791997	Tcea3	transcription elongation factor A3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8791997	Tcea3	transcription elongation factor A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8792043	Kcnip1	potassium voltage-gated channel interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8792043	Kcnip1	potassium voltage-gated channel interacting protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:732298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8792043	Kcnip1	potassium voltage-gated channel interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792043	Kcnip1	potassium voltage-gated channel interacting protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8792043	Kcnip1	potassium voltage-gated channel interacting protein 1	gene	DOID:9009315	Idiopathic Generalized Epilepsy		ISO	RGD:732298	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Idiopathic generalized epilepsy	
8792067	Yae1	YAE1 maturation factor of ABCE1	gene	DOID:1324	lung cancer		ISO	RGD:1315329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8792067	Yae1	YAE1 maturation factor of ABCE1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8792067	Yae1	YAE1 maturation factor of ABCE1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792067	Yae1	YAE1 maturation factor of ABCE1	gene	DOID:6039	uveal melanoma		ISO	RGD:1315329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8792067	Yae1	YAE1 maturation factor of ABCE1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8792067	Yae1	YAE1 maturation factor of ABCE1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8792067	Yae1	YAE1 maturation factor of ABCE1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8792078	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8792078	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:1351997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8071957
8792078	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8792078	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:10283	prostate cancer		ISO	RGD:1351997	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
8792078	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:1059	intellectual disability		ISO	RGD:1351997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8071957
8792078	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:1115	sarcoma		ISO	RGD:1351997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8792078	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:12849	autistic disorder		ISO	RGD:1351997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8071957
8792078	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:1984	rectal benign neoplasm		ISO	RGD:1351997	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8071957
8792078	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:4362	cervical cancer		ISO	RGD:1351997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8792078	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:5041	esophageal cancer		ISO	RGD:1351997	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8792078	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792078	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8792078	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8792078	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1351997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8792078	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8792078	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1351997	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	
8792078	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8792078	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:1351997	D	RGD:7240710	20200226	OMIM			
8792078	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:1351997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8792107	Smim24	small integral membrane protein 24	gene	DOID:234	colon adenocarcinoma		ISO	RGD:3380006	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8792107	Smim24	small integral membrane protein 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3380006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792107	Smim24	small integral membrane protein 24	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:3380006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8792115	Csde1	cold shock domain containing E1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8792115	Csde1	cold shock domain containing E1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8792115	Csde1	cold shock domain containing E1	gene	DOID:0060058	lymphoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:28492532
8792115	Csde1	cold shock domain containing E1	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
8792115	Csde1	cold shock domain containing E1	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1607084	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868
8792115	Csde1	cold shock domain containing E1	gene	DOID:10534	stomach cancer		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8792115	Csde1	cold shock domain containing E1	gene	DOID:1059	intellectual disability		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8792115	Csde1	cold shock domain containing E1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8792115	Csde1	cold shock domain containing E1	gene	DOID:1115	sarcoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
8792115	Csde1	cold shock domain containing E1	gene	DOID:12849	autistic disorder		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	
8792115	Csde1	cold shock domain containing E1	gene	DOID:12849	autistic disorder		ISO	RGD:1607084	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
8792115	Csde1	cold shock domain containing E1	gene	DOID:1324	lung cancer		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8792115	Csde1	cold shock domain containing E1	gene	DOID:1909	melanoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8792115	Csde1	cold shock domain containing E1	gene	DOID:1969	cerebral palsy		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
8792115	Csde1	cold shock domain containing E1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
8792115	Csde1	cold shock domain containing E1	gene	DOID:2394	ovarian cancer		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:28492532
8792115	Csde1	cold shock domain containing E1	gene	DOID:3070	high grade glioma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8792115	Csde1	cold shock domain containing E1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8792115	Csde1	cold shock domain containing E1	gene	DOID:4362	cervical cancer		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8792115	Csde1	cold shock domain containing E1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
8792115	Csde1	cold shock domain containing E1	gene	DOID:5041	esophageal cancer		ISO	RGD:1607084	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
8792115	Csde1	cold shock domain containing E1	gene	DOID:543	dystonia		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	
8792115	Csde1	cold shock domain containing E1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8792115	Csde1	cold shock domain containing E1	gene	DOID:630	genetic disease		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8792115	Csde1	cold shock domain containing E1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8792115	Csde1	cold shock domain containing E1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8792115	Csde1	cold shock domain containing E1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	
8792115	Csde1	cold shock domain containing E1	gene	DOID:9000495	Tremor		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
8792115	Csde1	cold shock domain containing E1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8792115	Csde1	cold shock domain containing E1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8792115	Csde1	cold shock domain containing E1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8792115	Csde1	cold shock domain containing E1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8792115	Csde1	cold shock domain containing E1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8792115	Csde1	cold shock domain containing E1	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	
8792115	Csde1	cold shock domain containing E1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
8792146	Nat14	N-acetyltransferase 14 (putative)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8792146	Nat14	N-acetyltransferase 14 (putative)	gene	DOID:1324	lung cancer		ISO	RGD:1601749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8792146	Nat14	N-acetyltransferase 14 (putative)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792146	Nat14	N-acetyltransferase 14 (putative)	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8792162	Pi16	peptidase inhibitor 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8792162	Pi16	peptidase inhibitor 16	gene	DOID:10534	stomach cancer		ISO	RGD:1312389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8792162	Pi16	peptidase inhibitor 16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8792162	Pi16	peptidase inhibitor 16	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8792162	Pi16	peptidase inhibitor 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8792162	Pi16	peptidase inhibitor 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8792174	Spink2	serine peptidase inhibitor Kazal type 2	gene	DOID:0111930	spermatogenic failure 29		ISO	RGD:1349585	D	RGD:7240710	20190315	OMIM			
8792174	Spink2	serine peptidase inhibitor Kazal type 2	gene	DOID:0111930	spermatogenic failure 29		ISO	RGD:1349585	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 29	PMID:25741868
8792174	Spink2	serine peptidase inhibitor Kazal type 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0050117	disease by infectious agent		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:16250003|PMID:20145306|PMID:20506408|PMID:22881376|PMID:25741868|PMID:25741890|PMID:27050191|PMID:28492532|PMID:30586733|PMID:31589614|PMID:32015373|PMID:32041611|PMID:32522009|PMID:33087929|PMID:33418990|PMID:33740630|PMID:34697415|PMID:34906840|PMID:35910211|PMID:36499307|PMID:41166440
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:10208479|PMID:10735632|PMID:10790219|PMID:11810272|PMID:12205127|PMID:12436241|PMID:14974088|PMID:15200491|PMID:15576851|PMID:16389549|PMID:16542394|PMID:16627557|PMID:17426749|PMID:18096825|PMID:18355452|PMID:19208450|PMID:19411563|PMID:19446849|PMID:19467224|PMID:20145306|PMID:20506408|PMID:25741868|PMID:26327206|PMID:26467025|PMID:27135400|PMID:27765764|PMID:27884173|PMID:28145427|PMID:28492532|PMID:30293936|PMID:34906454
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0050425	restless legs syndrome		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Restless legs	PMID:25741868|PMID:28492532|PMID:36229376
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0050823	third-degree atrioventricular block		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Third degree atrioventricular block	PMID:10422804|PMID:11810272|PMID:11845603|PMID:12124988|PMID:17765246|PMID:19318025|PMID:20506408|PMID:21382890|PMID:21642693|PMID:23375686|PMID:24033266|PMID:25487149|PMID:25647241|PMID:25741868|PMID:26467025|PMID:28161202|PMID:28492532|PMID:28895539|PMID:29353225|PMID:29396260|PMID:30293936|PMID:30312929|PMID:30637778|PMID:32719484|PMID:33418990|PMID:33454241|PMID:33740630|PMID:34037665|PMID:35339733|PMID:35568682|PMID:35910211|PMID:36105085|PMID:36499307|PMID:37409534|PMID:37589137|PMID:39731075|PMID:9712531
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:10208479|PMID:10735632|PMID:10790219|PMID:11810272|PMID:12205127|PMID:12436241|PMID:14974088|PMID:15200491|PMID:15576851|PMID:16389549|PMID:16542394|PMID:16627557|PMID:17426749|PMID:18096825|PMID:18355452|PMID:19208450|PMID:19411563|PMID:19446849|PMID:19467224|PMID:20145306|PMID:20506408|PMID:25741868|PMID:26327206|PMID:26467025|PMID:27135400|PMID:27765764|PMID:27884173|PMID:28145427|PMID:28492532|PMID:30293936|PMID:34906454
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0051061	stroke	susceptibility	ISO	RGD:735594	D	RGD:9068941	20200609	RGD		DNA:SNPs:introns: (rs2738446, rs2738450) (human)	PMID:19589204|REF_RGD_ID:5490232
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0051062	ischemic stroke		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ischemic stroke	PMID:10208479|PMID:10230472|PMID:10407508|PMID:10422803|PMID:10657581|PMID:10735631|PMID:10790219|PMID:10978268|PMID:11005141|PMID:11139254|PMID:11196104|PMID:11317361|PMID:11317362|PMID:11381031|PMID:11641914|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:12113284|PMID:12124988|PMID:12417285|PMID:12436241|PMID:12459547|PMID:12730724|PMID:1301956|PMID:1319734|PMID:1438159|PMID:14508510|PMID:14512370|PMID:14974088|PMID:14993243|PMID:15172466|PMID:15199436|PMID:15241806|PMID:15256764|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15952897|PMID:16250003|PMID:16314194|PMID:16389549|PMID:16542394|PMID:16627557|PMID:17044844|PMID:17094996|PMID:17196209|PMID:17335829|PMID:17347910|PMID:17426749|PMID:17539906|PMID:17765246|PMID:18206115|PMID:18263977|PMID:18279815|PMID:18325082|PMID:18700895|PMID:18718593|PMID:19026292|PMID:19040724|PMID:19118540|PMID:19148831|PMID:19318025|PMID:19446849|PMID:19717150|PMID:19837725|PMID:19843101|PMID:20045108|PMID:20145306|PMID:20236128|PMID:2029498|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:2088165|PMID:21145767|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21475731|PMID:21722902|PMID:21865347|PMID:21925044|PMID:22081141|PMID:22294733|PMID:22390909|PMID:22698793|PMID:22883975|PMID:23375686|PMID:23535506|PMID:24033266|PMID:24284361|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24507775|PMID:24529145|PMID:25014035|PMID:25378237|PMID:25412742|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25637381|PMID:25647241|PMID:2572061|PMID:25741868|PMID:25921077|PMID:25936317|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26238499|PMID:26343872|PMID:26467025|PMID:26608663|PMID:26666465|PMID:26723464|PMID:26748104|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26908947|PMID:2760205|PMID:27680772|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27824480|PMID:27998977|PMID:28008010|PMID:28104544|PMID:28145427|PMID:28161202|PMID:28235710|PMID:28379029|PMID:28492532|PMID:28502495|PMID:28645073|PMID:28965616|PMID:29172679|PMID:29261184|PMID:29292049|PMID:29353225|PMID:29531935|PMID:29593013|PMID:29870584|PMID:29937437|PMID:30512145|PMID:30526649|PMID:30592178|PMID:30592719|PMID:30710474|PMID:30795984|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31153816|PMID:31238984|PMID:31345425|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31947532|PMID:32015373|PMID:32041611|PMID:32143996|PMID:32331935|PMID:32423031|PMID:32660911|PMID:32665702|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32977124|PMID:33087929|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33533259|PMID:33626794|PMID:33740630|PMID:33794673|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34037665|PMID:34074024|PMID:34167030|PMID:34297352|PMID:34407635|PMID:34456049|PMID:34456200|PMID:34834584|PMID:34906454|PMID:35249492|PMID:35339733|PMID:35535697|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35913489|PMID:35929461|PMID:36499307|PMID:36648309|PMID:36901902|PMID:37568561|PMID:37967952|PMID:40769381|PMID:6091915|PMID:7548065|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7894220|PMID:7947594|PMID:7979249|PMID:8096412|PMID:8645371|PMID:8828982|PMID:8850176|PMID:9016531|PMID:9104431|PMID:9157944|PMID:9259195|PMID:9399845|PMID:9452095|PMID:9484998|PMID:9654205|PMID:9763532|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:735594	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0060807	syndromic X-linked intellectual disability Najm type		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND PONTINE AND CEREBELLAR HYPOPLASIA	PMID:11139254|PMID:11317361|PMID:11641914|PMID:11754108|PMID:1301956|PMID:15199436|PMID:15241806|PMID:15864114|PMID:17196209|PMID:17335829|PMID:17539906|PMID:17765246|PMID:18206115|PMID:18263977|PMID:19026292|PMID:19118540|PMID:19446849|PMID:20145306|PMID:20506408|PMID:20663204|PMID:21310417|PMID:21865347|PMID:21925044|PMID:22390909|PMID:22698793|PMID:23375686|PMID:24033266|PMID:24404629|PMID:24507775|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25637381|PMID:25647241|PMID:25741868|PMID:25936317|PMID:26020417|PMID:26036859|PMID:26238499|PMID:26467025|PMID:26723464|PMID:27765764|PMID:27824480|PMID:27998977|PMID:28492532|PMID:28965616|PMID:29261184|PMID:30710474|PMID:31447099|PMID:31617323|PMID:31947532|PMID:32041611|PMID:32660911|PMID:32719484|PMID:32770674|PMID:32977124|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33740630|PMID:33975813|PMID:34037665|PMID:34167030|PMID:34906454|PMID:35535697|PMID:35741760|PMID:9654205
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:11139254|PMID:11317361|PMID:11641914|PMID:11754108|PMID:1301956|PMID:15199436|PMID:15241806|PMID:15864114|PMID:17196209|PMID:17335829|PMID:17539906|PMID:17765246|PMID:18206115|PMID:18263977|PMID:19026292|PMID:19118540|PMID:19446849|PMID:20145306|PMID:20506408|PMID:20663204|PMID:21310417|PMID:21865347|PMID:21925044|PMID:22390909|PMID:22698793|PMID:23375686|PMID:24033266|PMID:24404629|PMID:24507775|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25637381|PMID:25647241|PMID:25741868|PMID:25936317|PMID:26020417|PMID:26036859|PMID:26238499|PMID:26467025|PMID:26723464|PMID:27765764|PMID:27824480|PMID:27998977|PMID:28492532|PMID:28965616|PMID:29261184|PMID:30710474|PMID:31447099|PMID:31617323|PMID:31947532|PMID:32041611|PMID:32660911|PMID:32719484|PMID:32770674|PMID:32977124|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33740630|PMID:33975813|PMID:34037665|PMID:34167030|PMID:34906454|PMID:35535697|PMID:35741760|PMID:9654205
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:10864	D	RGD:9068941	20200609	RGD		protein:decreased expression: liver (rat)	PMID:20028367|REF_RGD_ID:21410185
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:2998	D	RGD:9068941	20200609	RGD		protein:decreased expression: liver (rat)	PMID:20028367|REF_RGD_ID:21410185
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:735594	D	RGD:9068941	20200609	RGD		protein:decreased expression: liver (rat)	PMID:20028367|REF_RGD_ID:21410185
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0080204	renal hypoplasia		ISO	RGD:735594	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:10978268|PMID:11317361|PMID:11462246|PMID:11810272|PMID:1301956|PMID:15015036|PMID:17347910|PMID:19837725|PMID:21925044|PMID:22390909|PMID:23130880|PMID:23375686|PMID:24404629|PMID:25463123|PMID:25741868|PMID:26361156|PMID:26467025|PMID:27578104|PMID:27765764|PMID:27783906|PMID:27824480|PMID:28492532|PMID:28965616|PMID:32719484|PMID:32770674|PMID:32829317|PMID:32977124|PMID:33303402|PMID:33454241|PMID:33794673|PMID:34037665|PMID:34426522|PMID:34496902|PMID:35052492|PMID:35626767|PMID:37409534|PMID:37850379|PMID:9259195|PMID:9544850|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:735594	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20938947|PMID:23127599|PMID:23285030
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0080600	COVID-19		ISO	RGD:735594	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0090105	autosomal recessive hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia - homozygous | ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4	PMID:1000167|PMID:10081189|PMID:10090473|PMID:10090484|PMID:10208479|PMID:10208490|PMID:10357843|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10933493|PMID:10978268|PMID:11005141|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11196104|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11462246|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11933210|PMID:11939787|PMID:12124988|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12459547|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:1301940|PMID:1301956|PMID:1352322|PMID:14209286|PMID:1438159|PMID:14508510|PMID:1453433|PMID:1464748|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15100232|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15321837|PMID:15359125|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15914792|PMID:15952897|PMID:15998910|PMID:16099208|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16257961|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16466730|PMID:16542394|PMID:16627557|PMID:16630895|PMID:16740646|PMID:16792510|PMID:16801348|PMID:17087781|PMID:17094996|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17452316|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18503695|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19040724|PMID:19062533|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19446849|PMID:19487412|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20045108|PMID:20089850|PMID:20145306|PMID:20217239|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20964105|PMID:21145767|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21418584|PMID:21475731|PMID:21511053|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21642693|PMID:21722902|PMID:21865347|PMID:21868016|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22095935|PMID:22294733|PMID:22353362|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:23054246|PMID:23064986|PMID:23155708|PMID:2318961|PMID:23375686|PMID:23510778|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23769672|PMID:23815734|PMID:23833242|PMID:23936638|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24234650|PMID:24281370|PMID:24503134|PMID:24507775|PMID:24561735|PMID:24627126|PMID:24632281|PMID:24916650|PMID:24956927|PMID:2506353|PMID:25154303|PMID:25257073|PMID:25282520|PMID:25378237|PMID:25412742|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25618577|PMID:25637381|PMID:25647241|PMID:25682442|PMID:2569482|PMID:25741862|PMID:25741868|PMID:25741871|PMID:25846081|PMID:25887683|PMID:25911074|PMID:25921077|PMID:25936317|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26228681|PMID:26238499|PMID:26343872
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0090105	autosomal recessive hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia - homozygous | ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4	PMID:26415676|PMID:26433113|PMID:26467025|PMID:26608663|PMID:26633542|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26892515|PMID:26894473|PMID:26927322|PMID:2698793|PMID:27050191|PMID:27185354|PMID:27206935|PMID:27247956|PMID:2726768|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578127|PMID:27578128|PMID:27596133|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27831900|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28169869|PMID:28179607|PMID:28235710|PMID:28290784|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28379029|PMID:28391882|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28874442|PMID:28895539|PMID:28958694|PMID:28964736|PMID:28965616|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29292049|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29502162|PMID:29531935|PMID:29724976|PMID:29870584|PMID:29874871|PMID:30016271|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270083|PMID:30270084|PMID:30270359|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31345425|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31727422|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:32015373|PMID:3202825|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:322919|PMID:32331935|PMID:32423031|PMID:32505727|PMID:32522009|PMID:3263645|PMID:32660911|PMID:32695144|PMID:32710294|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32977124|PMID:32989269|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33211673|PMID:33226606|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33569482|PMID:33599434|PMID:33740630|PMID:33746137|PMID:33794673|PMID:33807407|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34167030|PMID:34234266|PMID:34297352|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34570182|PMID:34573395|PMID:34834584|PMID:34906454|PMID:3494949|PMID:35052492|PMID:35101175|PMID:35137788|PMID:35249492|PMID:35339733|PMID:35480308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35741760|PMID:35795214|PMID:35913489|PMID:35928446|PMID:36011335|PMID:36172582|PMID:36226792|PMID:36325061|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36727130|PMID:36901902|PMID:36960729|PMID:37119068|PMID:37129685|PMID:37719435|PMID:37805670|PMID:3815525|PMID:3816797|PMID:4061491|PMID:4061492|PMID:484703|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7548065|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7903269|PMID:7903864|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8292093|PMID:8314561|PMID:8347689|PMID:8478013|PMID:8535447|PMID:8645371|PMID:8645375|PMID:8697568|PMID:8828981|PMID:8829662|PMID:8831933|PMID:8850176|PMID:8882879|PMID:8911609|PMID:9007329|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9104431|PMID:9157944|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9409298|PMID:9452078|PMID:9452095|PMID:9484998|PMID:9536098|PMID:9544745|PMID:9547893|PMID:9654205
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0090105	autosomal recessive hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia - homozygous | ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4	PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0090105	autosomal recessive hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia - homozygous | ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia	PMID:10090473|PMID:10208479|PMID:10357843|PMID:10487495|PMID:10532689|PMID:10559517|PMID:10657581|PMID:10668928|PMID:10735632|PMID:10790219|PMID:10933493|PMID:10978268|PMID:11005141|PMID:11040093|PMID:11139254|PMID:11196104|PMID:11313767|PMID:11317362|PMID:11373616|PMID:11462246|PMID:11585102|PMID:11668627|PMID:11668640|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11933210|PMID:12124988|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12459547|PMID:12837857|PMID:1301940|PMID:1301956|PMID:1438159|PMID:14508510|PMID:14749324|PMID:14974088|PMID:15100232|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15321837|PMID:15359125|PMID:15556093|PMID:15556094|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15952897|PMID:16159606|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16343504|PMID:16389549|PMID:16542394|PMID:16630895|PMID:16792510|PMID:16801348|PMID:17087781|PMID:17094996|PMID:17142622|PMID:17150201|PMID:17347910|PMID:17406740|PMID:17426749|PMID:17452316|PMID:17539906|PMID:17576681|PMID:17765246|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18325082|PMID:18503695|PMID:18700895|PMID:18718593|PMID:18757057|PMID:18929537|PMID:19007590|PMID:19026292|PMID:19040724|PMID:19208450|PMID:19318025|PMID:19361455|PMID:19446849|PMID:19487412|PMID:19602640|PMID:1978682|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20045108|PMID:20145306|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:20828696|PMID:2088165|PMID:21146822|PMID:21310417|PMID:21376320|PMID:21382890|PMID:2153120|PMID:21531209|PMID:21642693|PMID:21865347|PMID:21868016|PMID:21935675|PMID:21955034|PMID:22081141|PMID:22294733|PMID:22353362|PMID:22390909|PMID:22461740|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:23064986|PMID:2318961|PMID:23375686|PMID:23535506|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23833242|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24507775|PMID:24561735|PMID:24627126|PMID:25257073|PMID:25282520|PMID:25378237|PMID:25412742|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25618577|PMID:25637381|PMID:25647241|PMID:25741868|PMID:25741871|PMID:25911074|PMID:25921077|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26046366|PMID:26077743|PMID:26228681|PMID:26343872|PMID:26433113|PMID:26467025|PMID:26608663|PMID:26632531|PMID:26748104|PMID:26892515|PMID:27050191|PMID:27206935|PMID:27542166|PMID:27578104|PMID:27578127|PMID:27578128|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27821657|PMID:27824480|PMID:28008010|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28169869|PMID:28235710|PMID:28349240|PMID:28353356|PMID:28379029|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28873201|PMID:28874442|PMID:28932795|PMID:28964736|PMID:28965616|PMID:29192238|PMID:29245966|PMID:29261184|PMID:29292049|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29502162|PMID:29531935|PMID:29724976|PMID:29870584|PMID:29874871|PMID:30179711|PMID:30270055|PMID:30270083|PMID:30270359|PMID:30293936|PMID:30400955|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30710474|PMID:31345425|PMID:31371270|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31653860|PMID:31727422|PMID:31947532|PMID:3198114|PMID:32041611|PMID:32044282|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32331935|PMID:32423031|PMID:32522009|PMID:3263645|PMID:32660911|PMID:32675963|PMID:32695144|PMID:32719484|PMID:32770674|PMID:32977124|PMID:33079599|PMID:33087929|PMID:33303402|PMID:33418990|PMID:33461934|PMID:33519890|PMID:33533259|PMID:33569482|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33807407|PMID:33955087|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34167030|PMID:34297352|PMID:34363016|PMID:34407635|PMID:34428338|PMID:34456049|PMID:34834584|PMID:34875256|PMID:34906454|PMID:3494949|PMID:35052492|PMID:35101175|PMID:35339733|PMID:35480308|PMID:35741760|PMID:35913489|PMID:35928446|PMID:36105085|PMID:36226792|PMID:36229376
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0090105	autosomal recessive hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia - homozygous | ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia	PMID:36325061|PMID:36464169|PMID:36499307|PMID:36648309|PMID:36752612|PMID:36901902|PMID:36960729|PMID:36991406|PMID:37119068|PMID:37370883|PMID:37719435|PMID:37739193|PMID:37813054|PMID:37967952|PMID:38014132|PMID:38122934|PMID:38255840|PMID:38311417|PMID:39731075|PMID:39815304|PMID:41166440|PMID:6091915|PMID:7298845|PMID:7548065|PMID:7573037|PMID:7603991|PMID:7616128|PMID:7635461|PMID:7718019|PMID:7749819|PMID:7979249|PMID:8347689|PMID:8535447|PMID:8829662|PMID:8831933|PMID:8882879|PMID:9007329|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9104431|PMID:9254862|PMID:9259195|PMID:9399845|PMID:9409298|PMID:9452095|PMID:9484998|PMID:9536098|PMID:9544745|PMID:9664576|PMID:9678702|PMID:9698020|PMID:9727746|PMID:9763532|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0090105	autosomal recessive hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia - homozygous | ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia	PMID:10090473|PMID:10208479|PMID:10357843|PMID:10422804|PMID:10447263|PMID:10487495|PMID:10532689|PMID:10559517|PMID:10611908|PMID:10657581|PMID:10668928|PMID:10735631|PMID:10735632|PMID:10790219|PMID:10882754|PMID:10933493|PMID:10978268|PMID:11005141|PMID:11040093|PMID:11139254|PMID:11196104|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11373616|PMID:11462246|PMID:11585102|PMID:11641914|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11933210|PMID:12124988|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12459547|PMID:12492446|PMID:12837857|PMID:1301940|PMID:1301956|PMID:1438159|PMID:14508510|PMID:14749324|PMID:14974088|PMID:15100232|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15321837|PMID:15359125|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15701167|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15952897|PMID:16159606|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16343504|PMID:16389549|PMID:16542394|PMID:16792510|PMID:16801348|PMID:17087781|PMID:17094996|PMID:17142622|PMID:17150201|PMID:17196209|PMID:17335829|PMID:17347910|PMID:17406740|PMID:17426749|PMID:17452316|PMID:17539906|PMID:17576681|PMID:17765246|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18263977|PMID:18325082|PMID:18503695|PMID:18700895|PMID:18718593|PMID:18757057|PMID:18929537|PMID:19007590|PMID:19026292|PMID:19040724|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19361455|PMID:19446849|PMID:19487412|PMID:1978682|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20045108|PMID:20089850|PMID:20145306|PMID:20217239|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20964105|PMID:21146822|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21475731|PMID:2153120|PMID:21531209|PMID:21642693|PMID:21722902|PMID:21865347|PMID:21868016|PMID:21925044|PMID:21935675|PMID:21955034|PMID:22081141|PMID:22294733|PMID:22353362|PMID:22390909|PMID:22461740|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:23054246|PMID:23064986|PMID:2318961|PMID:23375686|PMID:23535506|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23769672|PMID:23815734|PMID:23833242|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24234650|PMID:24404629|PMID:24507775|PMID:24561735|PMID:24627126|PMID:25257073|PMID:25378237|PMID:25412742|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25618577|PMID:25637381|PMID:25647241|PMID:25741868|PMID:25741871|PMID:25846081|PMID:25911074|PMID:25921077|PMID:25936317|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26228681|PMID:26238499|PMID:26343872|PMID:26361156|PMID:26433113|PMID:26467025|PMID:26608663|PMID:26632531|PMID:26723464|PMID:26748104|PMID:26892515|PMID:26908947|PMID:27050191|PMID:27206935|PMID:27542166|PMID:27578104|PMID:27578127|PMID:27578128|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28179607|PMID:28235710|PMID:28349240|PMID:28349888|PMID:28353356|PMID:28391882|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28873201|PMID:28874442|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:29172679|PMID:29192238|PMID:29213121|PMID:29261184|PMID:29292049|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29502162|PMID:29531935|PMID:29593013|PMID:29724976|PMID:29870584|PMID:29874871|PMID:30179711|PMID:30270055|PMID:30270083|PMID:30270084|PMID:30270359|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30400955|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30637778|PMID:30710474|PMID:30795984|PMID:30827231|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31345425|PMID:31371270|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31617323
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:0090105	autosomal recessive hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia - homozygous | ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia	PMID:31653860|PMID:31727422|PMID:31947532|PMID:3198114|PMID:32041611|PMID:32044282|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32331935|PMID:32423031|PMID:32522009|PMID:32660911|PMID:32665702|PMID:32675963|PMID:32695144|PMID:32710294|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32977124|PMID:33079599|PMID:33087929|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33454241|PMID:33461934|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33807407|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34100221|PMID:34167030|PMID:34234266|PMID:34297352|PMID:34363016|PMID:34407635|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34834584|PMID:34875256|PMID:34906454|PMID:3494949|PMID:35052492|PMID:35101175|PMID:35137788|PMID:35339733|PMID:35480308|PMID:35535697|PMID:35568682|PMID:35741760|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35928446|PMID:36105085|PMID:36226792|PMID:36229376|PMID:36325061|PMID:36464169|PMID:36499307|PMID:36507290|PMID:36648309|PMID:36752612|PMID:36901902|PMID:36960729|PMID:36991406|PMID:37119068|PMID:37370883|PMID:37409534|PMID:37589137|PMID:37719435|PMID:37739193|PMID:37813054|PMID:37967952|PMID:38014132|PMID:38122934|PMID:38255840|PMID:38311417|PMID:39392848|PMID:39731075|PMID:39815304|PMID:40769381|PMID:41166440|PMID:41287107|PMID:6091915|PMID:7298845|PMID:7489239|PMID:7548065|PMID:7573037|PMID:7603991|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7718019|PMID:7749819|PMID:7903864|PMID:7979249|PMID:8093663|PMID:8347689|PMID:8535447|PMID:8645371|PMID:8697568|PMID:8828981|PMID:8829662|PMID:8831933|PMID:8850176|PMID:8882879|PMID:9007329|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9104431|PMID:9157944|PMID:9254862|PMID:9259195|PMID:9399845|PMID:9409298|PMID:9452095|PMID:9484998|PMID:9536098|PMID:9544745|PMID:9654205|PMID:9664576|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:10230	aortic atherosclerosis		ISO	RGD:2998	D	RGD:9068941	20211112	RGD			PMID:29459263|REF_RGD_ID:13703129
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:10534	stomach cancer		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:10208479|PMID:10735632|PMID:10790219|PMID:11810272|PMID:12205127|PMID:12436241|PMID:14974088|PMID:15200491|PMID:15576851|PMID:16389549|PMID:16542394|PMID:16627557|PMID:17426749|PMID:18096825|PMID:18355452|PMID:19208450|PMID:19411563|PMID:19446849|PMID:19467224|PMID:20145306|PMID:20506408|PMID:25741868|PMID:26327206|PMID:26467025|PMID:27135400|PMID:27765764|PMID:27884173|PMID:28145427|PMID:28492532|PMID:30293936|PMID:34906454
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:1059	intellectual disability		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:10338098|PMID:10978268|PMID:11317361|PMID:11668627|PMID:11810272|PMID:11857755|PMID:12436241|PMID:1301956|PMID:14974088|PMID:15015036|PMID:15199436|PMID:15241806|PMID:15576851|PMID:17539906|PMID:19717150|PMID:19837725|PMID:19843101|PMID:20236128|PMID:2088165|PMID:21865347|PMID:22371747|PMID:22883975|PMID:23375686|PMID:24055113|PMID:24529145|PMID:25487149|PMID:25637381|PMID:25647241|PMID:25682026|PMID:25741868|PMID:25741873|PMID:26467025|PMID:27050191|PMID:27765764|PMID:27783906|PMID:28145427|PMID:28470529|PMID:28492532|PMID:28965616|PMID:29874871|PMID:30586733|PMID:30710474|PMID:31106925|PMID:31447099|PMID:31993549|PMID:32015373|PMID:32041611|PMID:32522009|PMID:32719484|PMID:32770674|PMID:32977124|PMID:33854068|PMID:34029164|PMID:34037665|PMID:34906454|PMID:34906840|PMID:35194765|PMID:35460704|PMID:35795214|PMID:35913489|PMID:37409534|PMID:37443404|PMID:38506081|PMID:38740897|PMID:8683740|PMID:9259195|PMID:9544850|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10864	D	RGD:9068941	20200609	RGD			PMID:21755005|REF_RGD_ID:5490231
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735594	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs5925, rs2738444, rs11669576 (human)	PMID:17239995|REF_RGD_ID:5490239
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735594	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon (human)	PMID:15689450|REF_RGD_ID:5490242
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735594	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon:rs5925, rs5927, rs5930 (human)	PMID:15585340|REF_RGD_ID:5490244
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:735594	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon:rs5925, rs5927, rs5930 (human)	PMID:16378661|REF_RGD_ID:5490243
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:735594	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon:rs5925, rs5930, rs11669576 (human)	PMID:16741934|REF_RGD_ID:5490241
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:10907	microcephaly		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:11139254|PMID:11317361|PMID:11641914|PMID:11754108|PMID:1301956|PMID:15199436|PMID:15241806|PMID:15864114|PMID:17196209|PMID:17335829|PMID:17539906|PMID:17765246|PMID:18206115|PMID:18263977|PMID:19026292|PMID:19118540|PMID:19446849|PMID:20145306|PMID:20506408|PMID:20663204|PMID:21310417|PMID:21865347|PMID:21925044|PMID:22390909|PMID:22698793|PMID:23375686|PMID:24033266|PMID:24404629|PMID:24507775|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25637381|PMID:25647241|PMID:25741868|PMID:25936317|PMID:26020417|PMID:26036859|PMID:26238499|PMID:26467025|PMID:26723464|PMID:27765764|PMID:27824480|PMID:27998977|PMID:28492532|PMID:28965616|PMID:29261184|PMID:30710474|PMID:31447099|PMID:31617323|PMID:31947532|PMID:32041611|PMID:32660911|PMID:32719484|PMID:32770674|PMID:32977124|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33740630|PMID:33975813|PMID:34037665|PMID:34167030|PMID:34906454|PMID:35535697|PMID:35741760|PMID:9654205
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:11100	Q fever		ISO	RGD:735594	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16469060
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:1115	sarcoma		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:10208479|PMID:10735632|PMID:10790219|PMID:11810272|PMID:12205127|PMID:12436241|PMID:14974088|PMID:15200491|PMID:15576851|PMID:16389549|PMID:16542394|PMID:16627557|PMID:17426749|PMID:18096825|PMID:18355452|PMID:19208450|PMID:19411563|PMID:19446849|PMID:19467224|PMID:20145306|PMID:20506408|PMID:25741868|PMID:26327206|PMID:26467025|PMID:27135400|PMID:27765764|PMID:27884173|PMID:28145427|PMID:28492532|PMID:30293936|PMID:34906454
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:11342	arcus senilis		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arcus senilis | ClinVar Annotator: match by term: Corneal arcus	PMID:10206683|PMID:10978268|PMID:11139254|PMID:11295843|PMID:11317361|PMID:11317362|PMID:11462246|PMID:11641914|PMID:11737238|PMID:11754108|PMID:12417285|PMID:12436241|PMID:12492446|PMID:1301956|PMID:14974088|PMID:15199436|PMID:15241806|PMID:15359125|PMID:15864114|PMID:16199547|PMID:16250003|PMID:16465405|PMID:16542394|PMID:17094996|PMID:17196209|PMID:17335829|PMID:17347910|PMID:17539906|PMID:17765246|PMID:18022922|PMID:18206115|PMID:18263977|PMID:18325082|PMID:18503695|PMID:19026292|PMID:19118540|PMID:19318025|PMID:19446849|PMID:19843101|PMID:20145306|PMID:20236128|PMID:20506408|PMID:20663204|PMID:20809525|PMID:20828696|PMID:21310417|PMID:2153120|PMID:21531209|PMID:21865347|PMID:21925044|PMID:22390909|PMID:22698793|PMID:22881376|PMID:22883975|PMID:23375686|PMID:23535506|PMID:24033266|PMID:24404629|PMID:24507775|PMID:24627126|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25637381|PMID:25647241|PMID:25741868|PMID:25936317|PMID:26020417|PMID:26036859|PMID:26220972|PMID:26238499|PMID:26343872|PMID:26467025|PMID:26723464|PMID:27765764|PMID:27824480|PMID:27998977|PMID:28492532|PMID:28645073|PMID:28965616|PMID:29261184|PMID:29353225|PMID:29396260|PMID:29502162|PMID:30415195|PMID:30586733|PMID:30592178|PMID:30710474|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31491741|PMID:31617323|PMID:31947532|PMID:32041611|PMID:32163632|PMID:32331935|PMID:32660911|PMID:32719484|PMID:32770674|PMID:32977124|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33740630|PMID:33955087|PMID:33975813|PMID:34037665|PMID:34100221|PMID:34167030|PMID:34297352|PMID:34456200|PMID:34906454|PMID:35535697|PMID:35741760|PMID:36507290|PMID:39731075|PMID:7548065|PMID:7603991|PMID:7979249|PMID:8697568|PMID:8828981|PMID:9026534|PMID:9654205|PMID:9698020|PMID:9712531|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:1143	exotropia		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:11139254|PMID:11317361|PMID:11641914|PMID:11754108|PMID:1301956|PMID:15199436|PMID:15241806|PMID:15864114|PMID:17196209|PMID:17335829|PMID:17539906|PMID:17765246|PMID:18206115|PMID:18263977|PMID:19026292|PMID:19118540|PMID:19446849|PMID:20145306|PMID:20506408|PMID:20663204|PMID:21310417|PMID:21865347|PMID:21925044|PMID:22390909|PMID:22698793|PMID:23375686|PMID:24033266|PMID:24404629|PMID:24507775|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25637381|PMID:25647241|PMID:25741868|PMID:25936317|PMID:26020417|PMID:26036859|PMID:26238499|PMID:26467025|PMID:26723464|PMID:27765764|PMID:27824480|PMID:27998977|PMID:28492532|PMID:28965616|PMID:29261184|PMID:30710474|PMID:31447099|PMID:31617323|PMID:31947532|PMID:32041611|PMID:32660911|PMID:32719484|PMID:32770674|PMID:32977124|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33740630|PMID:33975813|PMID:34037665|PMID:34167030|PMID:34906454|PMID:35535697|PMID:35741760|PMID:9654205
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:10422804|PMID:11139254|PMID:11196104|PMID:11317361|PMID:11641914|PMID:11668627|PMID:11754108|PMID:11845603|PMID:12436241|PMID:1301956|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15864114|PMID:15952897|PMID:16205024|PMID:17196209|PMID:17335829|PMID:17539906|PMID:1757095|PMID:17765246|PMID:17955342|PMID:18206115|PMID:18263977|PMID:18718593|PMID:18929537|PMID:19007590|PMID:19026292|PMID:19118540|PMID:19208450|PMID:19446849|PMID:1952806|PMID:20145306|PMID:20506408|PMID:20663204|PMID:20809525|PMID:21310417|PMID:21376320|PMID:21865347|PMID:21925044|PMID:22390909|PMID:22698793|PMID:22883975|PMID:23375686|PMID:23538283|PMID:24014831|PMID:24033266|PMID:24075752|PMID:24404629|PMID:24507775|PMID:24561735|PMID:24632287|PMID:25257073|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25741868|PMID:25936317|PMID:26020417|PMID:26036859|PMID:26077743|PMID:26238499|PMID:26342331|PMID:26467025|PMID:26608663|PMID:26723464|PMID:27578104|PMID:27578117|PMID:27680772|PMID:27765764|PMID:27784735|PMID:27824480|PMID:2799589|PMID:27998977|PMID:28492532|PMID:28502495|PMID:28645073|PMID:28965616|PMID:29261184|PMID:30270087|PMID:30400955|PMID:30512145|PMID:30710474|PMID:31447099|PMID:31491741|PMID:31617323|PMID:31947532|PMID:32041611|PMID:32220565|PMID:32331935|PMID:32660911|PMID:32719484|PMID:32770674|PMID:32977124|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33533259|PMID:33569482|PMID:33740630|PMID:33807407|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34037665|PMID:34167030|PMID:3430554|PMID:34456049|PMID:34906454|PMID:35052492|PMID:35101175|PMID:35535697|PMID:35741760|PMID:36325061|PMID:36991406|PMID:37370883|PMID:38255840|PMID:38311417|PMID:39815304|PMID:41166440|PMID:7773731|PMID:9104431|PMID:9409298|PMID:9544745|PMID:9654205|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:11830	myopia		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:10357843|PMID:10559517|PMID:11668627|PMID:11810272|PMID:1301956|PMID:15952897|PMID:16159606|PMID:17539906|PMID:17765246|PMID:18325082|PMID:19837725|PMID:19843101|PMID:20236128|PMID:20828696|PMID:2088165|PMID:22883975|PMID:23375686|PMID:23669246|PMID:24033266|PMID:24627126|PMID:25461735|PMID:25741868|PMID:26467025|PMID:27680772|PMID:27765764|PMID:27824480|PMID:28159968|PMID:28492532|PMID:28873201|PMID:30586733|PMID:31345425|PMID:31447099|PMID:32041611|PMID:32143996|PMID:32331935|PMID:32719484|PMID:33418990|PMID:33740630|PMID:34037665|PMID:34167030|PMID:34297352|PMID:34906454|PMID:36464169|PMID:37739193|PMID:6091915|PMID:7548065|PMID:7603991|PMID:7979249|PMID:9484998|PMID:9678702
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:12783	migraine without aura		ISO	RGD:735594	D	RGD:9068941	20200609	RGD		DNA:repeat:exon (human)	PMID:12873747|REF_RGD_ID:5490245
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:1324	lung cancer		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:10208479|PMID:10735632|PMID:10790219|PMID:11810272|PMID:12205127|PMID:12436241|PMID:14974088|PMID:15200491|PMID:15576851|PMID:16389549|PMID:16542394|PMID:16627557|PMID:17426749|PMID:18096825|PMID:18355452|PMID:19208450|PMID:19411563|PMID:19446849|PMID:19467224|PMID:20145306|PMID:20506408|PMID:25741868|PMID:26327206|PMID:26467025|PMID:27135400|PMID:27765764|PMID:27884173|PMID:28145427|PMID:28492532|PMID:30293936|PMID:34906454
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:7240710	20180130	OMIM			
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20809525|PMID:20828696|PMID:2088165|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21418584|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22220933|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22544571|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23669246|PMID:23680767|PMID:23815734|PMID:23820649|PMID:23833242|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24671153|PMID:24722143|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26361156|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27206935|PMID:27247956|PMID:2726768|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578127|PMID:27578128|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:2831865|PMID:28349240|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:2920733|PMID:29233637|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29874871|PMID:2988123|PMID:29974534|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270359|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31345425|PMID:31371270|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31617323|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31947532|PMID:31980526|PMID:3198114|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32113782|PMID:32143996|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32706999|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33079599|PMID:33087929|PMID:33111339|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33418990|PMID:3343347|PMID:33508743|PMID:33740630|PMID:3391282|PMID:33955087|PMID:33994402|PMID:34037665|PMID:34249980|PMID:3425583|PMID:34297352|PMID:34456200|PMID:3472763|PMID:3475071|PMID:34906454|PMID:34998859|PMID:3549308|PMID:35535697|PMID:3572996|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6324732|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12112655|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15633194|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30332439|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31371270|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34906454|PMID:3494949|PMID:34998859|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:3572996|PMID:35929461|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15633194|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:34970301|PMID:34998859|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:3572996|PMID:35929461|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6091915
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32165824|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:3572996|PMID:35929461|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25786579|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:3572996|PMID:35929461|PMID:36226792|PMID:3627182|PMID:36325061|PMID:36499307
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:3572996|PMID:35929461|PMID:36226792|PMID:36229376|PMID:3627182|PMID:36325061|PMID:36499307|PMID:3815525|PMID:3818645
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:3572996|PMID:35929461|PMID:36226792|PMID:36229376|PMID:3627182|PMID:36325061|PMID:36499307|PMID:3815525|PMID:3818645
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34526433|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35913489|PMID:35929461
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:36226792|PMID:36229376|PMID:3627182|PMID:36325061|PMID:36499307|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29459468|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34176852|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34526433|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35076666|PMID:35177841|PMID:35222550|PMID:35339733|PMID:35379578|PMID:35460704
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:35480308|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35913489|PMID:35928446|PMID:35929461|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36325061|PMID:36499307|PMID:36507290|PMID:37119068|PMID:37397863|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23315997|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24785115|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28587771|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29459468|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30919572|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34176852|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:34511120|PMID:34521694|PMID:34526433|PMID:34570182|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35052492|PMID:35076666|PMID:35130036|PMID:35137788|PMID:35177841|PMID:35222550|PMID:35339733|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:36105085|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36325061|PMID:36499307|PMID:36507290|PMID:36769678|PMID:36901902|PMID:36973604|PMID:37119068|PMID:37397863|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7562961|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:2324680|PMID:23315997|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24785115|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:2506353|PMID:2506357|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28587771|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29459468|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30919572|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32009526|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:3280202|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34521694|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35052492|PMID:35076666|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35626767|PMID:35631530|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36325061|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36727130|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:37119068|PMID:37129685|PMID:37397863|PMID:37719435|PMID:37848354|PMID:3807681|PMID:3815525|PMID:3816797|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503112|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540783|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7562961|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8683740|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9262405|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:2030732|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20717180|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:2324680|PMID:23315997|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24785115|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:2506353|PMID:2506357|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25786579|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27170061|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28587771|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29459468|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30919572|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32009526|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32491301|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:3280202|PMID:32820175|PMID:32829317|PMID:32846800|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33626794|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34521694|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34650182|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35052492|PMID:35074074|PMID:35076666|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36325061|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36727130|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:37119068|PMID:37129685|PMID:37397863|PMID:37607748|PMID:37719435|PMID:37848354|PMID:38003014|PMID:3807681|PMID:3815525|PMID:3816797|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503112|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540783|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7562961|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8683740|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9262405|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:1000167|PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10334477|PMID:10338098|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10631147|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11484166|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:1221619|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:1374151|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14673705|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15321837|PMID:15359125|PMID:1538685|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16257961|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:1653609|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:189940|PMID:19001363|PMID:19007590|PMID:19013141
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33626794|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34521694|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34650182|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35074074|PMID:35076666|PMID:35101175|PMID:35130036|PMID:35131226|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35460704|PMID:35474963|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36325061|PMID:36329474|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37397863|PMID:37409534|PMID:37607748|PMID:37719435|PMID:37805670|PMID:37813054|PMID:37848354|PMID:38003014|PMID:3807681|PMID:3815525|PMID:3816797|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503112|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540783|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7562961|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8683740|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9262405|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:2030732|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:2324680|PMID:23315997|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24785115|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24946816|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:2506353|PMID:2506357|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25278291|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25741890|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25786579|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27170061|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:27989324|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28587771|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28874442|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29459468|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30919572|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31130284|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32009526|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32491301|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:3280202|PMID:32820175|PMID:32829317|PMID:32846800|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33601267|PMID:33626794|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34327453|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34521694|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34650182|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34756585|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35074074|PMID:35076666|PMID:35101175|PMID:35130036|PMID:35131226|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35257483|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35460704|PMID:35474963|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35727495|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35966514|PMID:35999587|PMID:36011335|PMID:36095024|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36325061|PMID:36329474|PMID:36338372|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36648309|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37397863|PMID:37409534|PMID:37568561|PMID:37607748|PMID:37719435|PMID:37805670|PMID:37813054|PMID:37848354|PMID:37937776|PMID:37967952|PMID:38003014|PMID:3807681|PMID:3815525|PMID:3816797|PMID:3818645|PMID:38245461|PMID:38374534|PMID:3924410|PMID:39481677|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503112|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540783|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7562961|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8683740|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9262405|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:2324680|PMID:23315997|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:2463228|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24785115|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24946816|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:2506353|PMID:2506357|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25278291|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25741890|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27006714|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27170061|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28587771|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28874442|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29095814|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29459468|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30545713|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30919572|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31130284|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32009526|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32120369|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:32276786|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32491301|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32675963|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:3280202|PMID:32820175|PMID:32829317|PMID:32846800|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33601267|PMID:33626794|PMID:33668494|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34100221|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34327453|PMID:34363016|PMID:34379075|PMID:34387892|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34497632|PMID:34511120|PMID:34521694|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34650182|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34756585|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35074074|PMID:35076666|PMID:35101175|PMID:35130036|PMID:35131226|PMID:35137788|PMID:35152178|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35257483|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35340792|PMID:35379577|PMID:35460704|PMID:35474963|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35727495|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35966514|PMID:35999587|PMID:36011335|PMID:36095024|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36325061|PMID:36329474|PMID:36338372|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36648309|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37370883|PMID:37397863|PMID:37409534|PMID:37511194|PMID:37568561|PMID:37589137|PMID:37607748|PMID:37719435|PMID:37805670|PMID:37813054|PMID:37848354|PMID:37937776|PMID:37967952|PMID:38003014|PMID:3807681|PMID:38122934|PMID:3815525|PMID:3816797|PMID:3818645|PMID:38203485|PMID:38245461|PMID:38374534|PMID:38523000|PMID:38828125|PMID:3924410|PMID:39481677|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503112|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540783|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7562961|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7981713|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8325082|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8683740|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9262405|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:1000167|PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10334477|PMID:10338098|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10421221|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10631147|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10878268|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11484166|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12181638|PMID:12205127|PMID:1221619|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:1374151|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14673705|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15321837|PMID:15359125|PMID:1538685|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16257961|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:1653609|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17090611|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:189940|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:2324680|PMID:23315997|PMID:23340035|PMID:23345538|PMID:23369702|PMID:233740630|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:2463228|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24785115|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24946816|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:2506353|PMID:2506357|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25278291|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25741890|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27006714|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27170061|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28587771|PMID:28619117|PMID:28645073|PMID:28734274|PMID:28761763|PMID:28873201|PMID:28874442|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29095814|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29459468|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30545713|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30919572|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31130284|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32009526|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32120369|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:32276786|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32491301|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32675963|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:3280202|PMID:32820175|PMID:32829317|PMID:32846800|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33134466|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33601267|PMID:33626794|PMID:33668494|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34100221|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34327453|PMID:34363016|PMID:34379075|PMID:34387892|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34497632|PMID:34511120|PMID:34521694|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34650182|PMID:34692794|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34756585|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35074074|PMID:35076666|PMID:35101175|PMID:35130036|PMID:35131226|PMID:35137788|PMID:35152178|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35257483|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35340792|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35727495|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35966514|PMID:35999587|PMID:36011335|PMID:36095024|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36325061|PMID:36329474|PMID:36338372|PMID:36422519|PMID:36446894|PMID:36464169|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36648309|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37370883|PMID:37397863|PMID:37409534|PMID:37417318|PMID:37511194|PMID:37568561|PMID:37589137|PMID:37607748|PMID:37719435|PMID:37739193|PMID:37813054|PMID:37848354|PMID:37937776|PMID:37967952|PMID:38003014|PMID:3807681|PMID:38122934|PMID:3815525|PMID:3816797|PMID:3818645|PMID:38203485|PMID:38245461|PMID:38258479|PMID:38294787|PMID:38297435|PMID:38374534|PMID:38523000|PMID:38828125|PMID:38939573|PMID:39114568|PMID:3924410|PMID:39481677|PMID:3955657|PMID:40108729|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503112|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540783|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7562961|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7981713|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8325082|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:8678915|PMID:8683740|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9262405|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250610	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33134466|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33601267|PMID:33626794|PMID:33668494|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34100221|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34327453|PMID:34363016|PMID:34379075|PMID:34387892|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34497632|PMID:34511120|PMID:34521694|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34650182|PMID:34692794|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34756585|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35074074|PMID:35076666|PMID:35101175|PMID:35130036|PMID:35131226|PMID:35137788|PMID:35152178|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35257483|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35340792|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35727495|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35966514|PMID:35999587|PMID:36011335|PMID:36095024|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36325061|PMID:36329474|PMID:36338372|PMID:36422519|PMID:36446894|PMID:36464169|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36648309|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37370883|PMID:37397863|PMID:37409534|PMID:37417318|PMID:37496633|PMID:37511194|PMID:37568561|PMID:37589137|PMID:37607748|PMID:37719435|PMID:37739193|PMID:37813054|PMID:37848354|PMID:37937776|PMID:37967952|PMID:38003014|PMID:3807681|PMID:38122934|PMID:3815525|PMID:3816797|PMID:3818645|PMID:38203485|PMID:38245461|PMID:38258479|PMID:38294787|PMID:38297435|PMID:38374534|PMID:38523000|PMID:38828125|PMID:38939573|PMID:39114568|PMID:3924410|PMID:39481677|PMID:3955657|PMID:40108729|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503112|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540783|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7562961|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7981713|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8325082|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250610	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:8664911|PMID:8678915|PMID:8683740|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9262405|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10219664|PMID:10224150|PMID:10230472|PMID:10334477|PMID:10338098|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10421221|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10631147|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10878268|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11484166|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12181638|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14673705|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15321837|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16257961|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17090611|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17727860|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:189940
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:19674976|PMID:1968060|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23315997|PMID:23340035|PMID:23345538|PMID:23369702|PMID:233740630|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:2463228|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24785115|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24946816|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25064003|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25278291|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25741890|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27006714|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27170061|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28502516|PMID:28587771|PMID:28619117|PMID:28645073|PMID:28734274|PMID:28761763|PMID:28873201|PMID:28874442|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29057618|PMID:29083407|PMID:29095814|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29459468|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30545713|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30919572|PMID:30949068|PMID:30971288|PMID:30975109|PMID:3104336|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31130284|PMID:31131953|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32009526|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32120369|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:32276786|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32491301|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:32633265|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32675963|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32846800|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33134466|PMID:33194883
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33408743|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33601267|PMID:33626794|PMID:33668494|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34100221|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34327453|PMID:34363016|PMID:34379075|PMID:34387892|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34497632|PMID:34511120|PMID:34521694|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34650182|PMID:34692794|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34756585|PMID:34774719|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35074074|PMID:35076666|PMID:35101175|PMID:35123858|PMID:35130036|PMID:35131226|PMID:35137788|PMID:35152178|PMID:35177841|PMID:35194765|PMID:35222550|PMID:35249492|PMID:35257483|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35340792|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35727495|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35850704|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35966514|PMID:35999587|PMID:36011335|PMID:36095024|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36299643|PMID:36325061|PMID:36329474|PMID:36338372|PMID:36422519|PMID:36446894|PMID:36464169|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36648309|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37225774|PMID:37370883|PMID:37397863|PMID:37409534|PMID:37417318|PMID:37482509|PMID:37496633|PMID:37511194|PMID:37568561|PMID:37589137|PMID:37607748|PMID:37719435|PMID:37739193|PMID:37805670|PMID:37808210|PMID:37813054|PMID:37848354|PMID:37903942|PMID:37937776|PMID:37967952|PMID:38003014|PMID:38122934|PMID:3815525|PMID:3816797|PMID:3818645|PMID:38203485|PMID:38245461|PMID:38258479|PMID:38294787|PMID:38297435|PMID:38374534|PMID:38523000|PMID:38707657|PMID:38828125|PMID:38939573|PMID:39114568|PMID:3924410|PMID:39407785|PMID:39481677|PMID:39531635|PMID:3955657|PMID:40108729|PMID:40131152|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7298845|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7562961|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7981713|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8325082|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8683740|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9262405|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: APOA2-related condition | ClinVar Annotator: match by term: Familial Hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Familial hypercholesterolemias | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition | ClinVar Annotator: match by term: familial hypercholesterolemia | ClinVar Annotator: match by term: hypercholesterolemia, familial, 1	PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10219664|PMID:10230472|PMID:10334477|PMID:10338098|PMID:10357843|PMID:10412552|PMID:10421221|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10669652|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11373616|PMID:11389828|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11484166|PMID:11491306|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12618273|PMID:12628589|PMID:12673584|PMID:12697994|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1352322|PMID:1362925|PMID:1372927|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14570618|PMID:14624402|PMID:1463746|PMID:14675545|PMID:14749324|PMID:14767901|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15321837|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16257961|PMID:16286607|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17090611|PMID:17094996|PMID:17123536|PMID:1714262|PMID:17142622|PMID:17150201|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17694954|PMID:17727860|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: APOA2-related condition | ClinVar Annotator: match by term: Familial Hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Familial hypercholesterolemias | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition | ClinVar Annotator: match by term: familial hypercholesterolemia | ClinVar Annotator: match by term: hypercholesterolemia, familial, 1	PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:2021|PMID:20217239|PMID:20236128|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21911783|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:22079632|PMID:22081141|PMID:22089669|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23369702|PMID:233740630|PMID:23375686|PMID:23415438|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23769672|PMID:23815734|PMID:23833242|PMID:23881912|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24284361|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24420163|PMID:24450200|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:2463228|PMID:24632281|PMID:24632287|PMID:24671153|PMID:24722143|PMID:24785115|PMID:24798328|PMID:24918045|PMID:24946816|PMID:24956927|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25064003|PMID:25187945|PMID:25234566|PMID:25257073|PMID:25278291|PMID:25282520|PMID:25378237|PMID:25386756|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741873|PMID:25741890|PMID:25775905|PMID:25807990|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26666465|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26820372|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:27017151|PMID:27044878|PMID:27050191|PMID:27062410|PMID:27135400|PMID:27170061|PMID:27206935|PMID:27206941|PMID:27206942|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27830735|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: APOA2-related condition | ClinVar Annotator: match by term: Familial Hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Familial hypercholesterolemias | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition | ClinVar Annotator: match by term: familial hypercholesterolemia | ClinVar Annotator: match by term: hypercholesterolemia, familial, 1	PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28458923|PMID:28470529|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28502516|PMID:28619117|PMID:28645073|PMID:28734274|PMID:28873201|PMID:28874442|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29057618|PMID:29095814|PMID:29172679|PMID:29192238|PMID:29213121|PMID:29233637|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29593013|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270087|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30545713|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30971288|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31238984|PMID:31345425|PMID:31358055|PMID:31371270|PMID:31387896|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31543373|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31685212|PMID:31686828|PMID:31689621|PMID:31691639|PMID:31706281|PMID:31727422|PMID:31737537|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32120369|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32276786|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:32633265|PMID:3263645|PMID:32660911|PMID:32665702|PMID:32675963|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32820175|PMID:32829317|PMID:32846800|PMID:32897268|PMID:32906206|PMID:32911577|PMID:32922439|PMID:32946862|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33134466|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33408743|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33458634|PMID:33461934|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33601267|PMID:33624064|PMID:33626794|PMID:33668494|PMID:33732287|PMID:3374063|PMID:33740630|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33814196|PMID:33854068|PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34100221|PMID:34167030|PMID:34176852|PMID:34182004|PMID:34220717|PMID:34234266|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34327453|PMID:34363016|PMID:34379075|PMID:34387892|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34497632|PMID:34511120|PMID:34521694|PMID:34573395|PMID:34615865|PMID:34692794|PMID:34697415|PMID:3472763|PMID:34756585|PMID:34774719|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34875256|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34991937|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35074074|PMID:35076666|PMID:35101175|PMID:35123858|PMID:35130036|PMID:35131226
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: APOA2-related condition | ClinVar Annotator: match by term: Familial Hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Familial hypercholesterolemias | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition | ClinVar Annotator: match by term: familial hypercholesterolemia | ClinVar Annotator: match by term: hypercholesterolemia, familial, 1	PMID:35137788|PMID:35152178|PMID:35152179|PMID:35177841|PMID:35194765|PMID:35222550|PMID:35249492|PMID:35257483|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35340792|PMID:35379577|PMID:35379578|PMID:35417938|PMID:35441343|PMID:35460704|PMID:35474963|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35727495|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35966514|PMID:36095024|PMID:36105085|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36299643|PMID:3632506|PMID:36325061|PMID:36325897|PMID:36329474|PMID:36338372|PMID:36422519|PMID:36446894|PMID:36464169|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36648309|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37071725|PMID:37119068|PMID:37128917|PMID:37129685|PMID:37185657|PMID:37217153|PMID:37225774|PMID:37370883|PMID:37397863|PMID:37409534|PMID:37417318|PMID:37443404|PMID:37482509|PMID:37496633|PMID:37511194|PMID:37568561|PMID:37589137|PMID:37607748|PMID:37719435|PMID:37728764|PMID:37732177|PMID:37739193|PMID:37805670|PMID:37808210|PMID:37813054|PMID:37848354|PMID:37850379|PMID:37903942|PMID:37937776|PMID:37967952|PMID:38003014|PMID:38014132|PMID:38122934|PMID:38138952|PMID:3815525|PMID:3818645|PMID:38203485|PMID:38243822|PMID:38245461|PMID:38255840|PMID:38258479|PMID:38294787|PMID:38311417|PMID:38374534|PMID:38425725|PMID:38506081|PMID:38507394|PMID:38523000|PMID:38642551|PMID:38658794|PMID:38707657|PMID:38740897|PMID:38759658|PMID:38828125|PMID:38852422|PMID:38879446|PMID:38939573|PMID:38955586|PMID:39020067|PMID:39033325|PMID:39085092|PMID:39114568|PMID:3924410|PMID:39306041|PMID:39331889|PMID:39392848|PMID:39531635|PMID:39535057|PMID:3955657|PMID:39619738|PMID:39731075|PMID:39769230|PMID:39802654|PMID:39815304|PMID:40108729|PMID:40131152|PMID:40157861|PMID:40339360|PMID:4039004|PMID:40428205|PMID:40560421|PMID:40730230|PMID:40769381|PMID:40874855|PMID:41127896|PMID:41166440|PMID:41287107|PMID:41374443|PMID:41542120|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6288770|PMID:6299582|PMID:6324732|PMID:7298845|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7866407|PMID:7903864|PMID:7947594|PMID:7979249|PMID:7981713|PMID:7989866|PMID:8004803|PMID:8093663|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8325082|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8535447|PMID:8546515|PMID:8568489|PMID:8599353|PMID:8634338|PMID:8645371|PMID:8664907|PMID:8678915|PMID:8683740|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9179542|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9262405|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:14692	Smith-Lemli-Opitz syndrome		ISO	RGD:735594	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: RSH syndrome	PMID:10208499|PMID:12730724|PMID:15701167|PMID:17445538|PMID:17694954|PMID:25741868|PMID:28492532|PMID:34906454
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:1827	generalized epilepsy		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:10735632|PMID:11810272|PMID:1301956|PMID:15199436|PMID:16250003|PMID:19026292|PMID:20506408|PMID:21382890|PMID:22390909|PMID:23833242|PMID:25412742|PMID:25741868|PMID:28492532|PMID:28502510|PMID:29724976|PMID:30179711|PMID:33955087|PMID:38014132|PMID:41166440
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:1883	hepatitis C	disease_progression	ISO	RGD:735594	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:exon, 3' utr (human)	PMID:12209363|REF_RGD_ID:5490246
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:1909	melanoma		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:1936	atherosclerosis		ISO	RGD:735594	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atherosclerosis	PMID:10657581|PMID:18247305|PMID:19073363|PMID:20809525|PMID:23375686|PMID:25741868|PMID:25846081|PMID:26467025|PMID:27170061|PMID:27206941|PMID:28235710|PMID:28492532|PMID:28502495|PMID:28645073|PMID:29233637|PMID:30526649|PMID:33994402|PMID:34037665|PMID:34456049|PMID:38003014|PMID:7903864
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:2234	focal epilepsy		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:11668627|PMID:11857755|PMID:15015036|PMID:15199436|PMID:15576851|PMID:17539906|PMID:19843101|PMID:20236128|PMID:22883975|PMID:24055113|PMID:25487149|PMID:25637381|PMID:25682026|PMID:25741868|PMID:26467025|PMID:27050191|PMID:27783906|PMID:28145427|PMID:28492532|PMID:30586733|PMID:31447099|PMID:31993549|PMID:32015373|PMID:32522009|PMID:32719484|PMID:33854068|PMID:34029164|PMID:34037665|PMID:34906454|PMID:34906840|PMID:35460704|PMID:35913489|PMID:37409534|PMID:37443404|PMID:38506081|PMID:38740897
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:10208479|PMID:10735632|PMID:10790219|PMID:11810272|PMID:12205127|PMID:12436241|PMID:14974088|PMID:15200491|PMID:15576851|PMID:16389549|PMID:16542394|PMID:16627557|PMID:17426749|PMID:18096825|PMID:18355452|PMID:19208450|PMID:19411563|PMID:19446849|PMID:19467224|PMID:20145306|PMID:20506408|PMID:25741868|PMID:26327206|PMID:26467025|PMID:27135400|PMID:27765764|PMID:27884173|PMID:28145427|PMID:28492532|PMID:30293936|PMID:34906454
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:2349	arteriosclerosis		ISO	RGD:735594	D	RGD:9068941	20200609	RGD			PMID:12969990|REF_RGD_ID:1581826
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:2355	anemia		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:10668928|PMID:16250003|PMID:17539906|PMID:17576681|PMID:17964958|PMID:19208450|PMID:19446849|PMID:22294733|PMID:23375686|PMID:25463123|PMID:25741868|PMID:26467025|PMID:27578104|PMID:28353356|PMID:28492532|PMID:28964736|PMID:30293936|PMID:30710474|PMID:31345425|PMID:31947532|PMID:32660911|PMID:32977124|PMID:33418990|PMID:33740630|PMID:34037665|PMID:36960729|PMID:7635461|PMID:9536098
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:2841	asthma		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:20145306|PMID:22881376|PMID:25741868|PMID:25741890|PMID:31589614|PMID:32041611|PMID:32522009|PMID:33087929|PMID:33418990|PMID:33740630|PMID:34697415|PMID:34906840|PMID:35910211|PMID:36499307|PMID:41166440
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:3145	hyperlipoproteinemia type III		ISO	RGD:735594	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia	PMID:20809525|PMID:25741868|PMID:28492532|PMID:28645073|PMID:33740630
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:3275	thymoma		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:10208479|PMID:10735632|PMID:10790219|PMID:11810272|PMID:12205127|PMID:12436241|PMID:14974088|PMID:15200491|PMID:15576851|PMID:16389549|PMID:16542394|PMID:16627557|PMID:17426749|PMID:18096825|PMID:18355452|PMID:19208450|PMID:19411563|PMID:19446849|PMID:19467224|PMID:20145306|PMID:20506408|PMID:25741868|PMID:26327206|PMID:26467025|PMID:27135400|PMID:27765764|PMID:27884173|PMID:28145427|PMID:28492532|PMID:30293936|PMID:34906454
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:3345	xanthomatosis		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Xanthomas | ClinVar Annotator: match by term: Xanthomatosis	PMID:11668627|PMID:12436241|PMID:16205024|PMID:19208450|PMID:19318025|PMID:19446849|PMID:20145306|PMID:21865347|PMID:22883975|PMID:23375686|PMID:24075752|PMID:25545329|PMID:25741868|PMID:26077743|PMID:26467025|PMID:26608663|PMID:27578128|PMID:27765764|PMID:27784735|PMID:28492532|PMID:28965616|PMID:30293936|PMID:30400955|PMID:30512145|PMID:32220565|PMID:32757650|PMID:32977124|PMID:33418990|PMID:33569482|PMID:33740630|PMID:33955087|PMID:33994402|PMID:34037665|PMID:34456049|PMID:34906454|PMID:35101175|PMID:36325061|PMID:36991406|PMID:38255840|PMID:38311417|PMID:38523000|PMID:39815304
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:3393	coronary artery disease		ISO	RGD:735594	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378990|PMID:27135400
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:3393	coronary artery disease	no_association	ISO	RGD:735594	D	RGD:9068941	20200609	RGD			PMID:16459141|REF_RGD_ID:1581823
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:4362	cervical cancer		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:10208479|PMID:10735632|PMID:10790219|PMID:11810272|PMID:12205127|PMID:12436241|PMID:14974088|PMID:15200491|PMID:15576851|PMID:16389549|PMID:16542394|PMID:16627557|PMID:17426749|PMID:18096825|PMID:18355452|PMID:19208450|PMID:19411563|PMID:19446849|PMID:19467224|PMID:20145306|PMID:20506408|PMID:25741868|PMID:26327206|PMID:26467025|PMID:27135400|PMID:27765764|PMID:27884173|PMID:28145427|PMID:28492532|PMID:30293936|PMID:34906454
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:4481	allergic rhinitis		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	PMID:20145306|PMID:22881376|PMID:25741868|PMID:25741890|PMID:31589614|PMID:32041611|PMID:32522009|PMID:33087929|PMID:33418990|PMID:33740630|PMID:34697415|PMID:34906840|PMID:35910211|PMID:36499307|PMID:41166440
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:10208479|PMID:10735632|PMID:10790219|PMID:11810272|PMID:12205127|PMID:12436241|PMID:14974088|PMID:15200491|PMID:15576851|PMID:16389549|PMID:16542394|PMID:16627557|PMID:17426749|PMID:18096825|PMID:18355452|PMID:19208450|PMID:19411563|PMID:19446849|PMID:19467224|PMID:20145306|PMID:20506408|PMID:25741868|PMID:26327206|PMID:26467025|PMID:27135400|PMID:27765764|PMID:27884173|PMID:28145427|PMID:28492532|PMID:30293936|PMID:34906454
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:5082	liver cirrhosis		ISO	RGD:735594	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:36108984
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:557	kidney disease		ISO	RGD:735594	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	PMID:10978268|PMID:11317361|PMID:11462246|PMID:11810272|PMID:1301956|PMID:15015036|PMID:17347910|PMID:19837725|PMID:21925044|PMID:22390909|PMID:23130880|PMID:23375686|PMID:24404629|PMID:25463123|PMID:25741868|PMID:26361156|PMID:26467025|PMID:27578104|PMID:27765764|PMID:27783906|PMID:27824480|PMID:28492532|PMID:28965616|PMID:32719484|PMID:32770674|PMID:32829317|PMID:32977124|PMID:33303402|PMID:33454241|PMID:33794673|PMID:34037665|PMID:34426522|PMID:34496902|PMID:35052492|PMID:35626767|PMID:37409534|PMID:37850379|PMID:9259195|PMID:9544850|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:5844	myocardial infarction		ISO	RGD:735594	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myocardial infarction	PMID:10882754|PMID:11810272|PMID:11851376|PMID:1301956|PMID:17196209|PMID:18096825|PMID:19318025|PMID:20045108|PMID:20089850|PMID:20506408|PMID:20809525|PMID:21310417|PMID:21642693|PMID:22390909|PMID:22698793|PMID:23064986|PMID:23375686|PMID:23769672|PMID:24033266|PMID:24507775|PMID:25257073|PMID:25461735|PMID:25487149|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26892515|PMID:27765764|PMID:27824480|PMID:28492532|PMID:28502495|PMID:28645073|PMID:28965616|PMID:29192238|PMID:30586733|PMID:31106297|PMID:31447099|PMID:32041611|PMID:32719484|PMID:32977124|PMID:33303402|PMID:33740630|PMID:33994402|PMID:34037665|PMID:34234266|PMID:34363016|PMID:34456049|PMID:35137788|PMID:35339733|PMID:35480308|PMID:36752612|PMID:37967952|PMID:7489239
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:10208479|PMID:10735632|PMID:10790219|PMID:11810272|PMID:12205127|PMID:12436241|PMID:14974088|PMID:15200491|PMID:15576851|PMID:16389549|PMID:16542394|PMID:16627557|PMID:17426749|PMID:18096825|PMID:18355452|PMID:19208450|PMID:19411563|PMID:19446849|PMID:19467224|PMID:20145306|PMID:20506408|PMID:25741868|PMID:26327206|PMID:26467025|PMID:27135400|PMID:27765764|PMID:27884173|PMID:28145427|PMID:28492532|PMID:30293936|PMID:34906454
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:799	varicose veins		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Varicose disease	PMID:16250003|PMID:20809525|PMID:25741868|PMID:28492532|PMID:28645073|PMID:33418990|PMID:36752612
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:10422804|PMID:11810272|PMID:11845603|PMID:12124988|PMID:17765246|PMID:19318025|PMID:20506408|PMID:21382890|PMID:21642693|PMID:23375686|PMID:24033266|PMID:25487149|PMID:25647241|PMID:25741868|PMID:26467025|PMID:28161202|PMID:28492532|PMID:28895539|PMID:29353225|PMID:29396260|PMID:30293936|PMID:30312929|PMID:30637778|PMID:32719484|PMID:33418990|PMID:33454241|PMID:33740630|PMID:34037665|PMID:35339733|PMID:35568682|PMID:35910211|PMID:36105085|PMID:36499307|PMID:37409534|PMID:37589137|PMID:39731075|PMID:9712531
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9000351	Diarrhea 9		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:20145306|PMID:22881376|PMID:25741868|PMID:25741890|PMID:31589614|PMID:32041611|PMID:32522009|PMID:33087929|PMID:33418990|PMID:33740630|PMID:34697415|PMID:34906840|PMID:35910211|PMID:36499307|PMID:41166440
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9000528	Coronary Disease		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Early-onset coronary artery disease	PMID:10422804|PMID:11810272|PMID:11845603|PMID:12124988|PMID:17765246|PMID:19318025|PMID:20506408|PMID:21382890|PMID:21642693|PMID:23375686|PMID:24033266|PMID:25487149|PMID:25647241|PMID:25741868|PMID:26467025|PMID:28161202|PMID:28492532|PMID:28895539|PMID:29353225|PMID:29396260|PMID:30293936|PMID:30312929|PMID:30637778|PMID:32719484|PMID:33418990|PMID:33454241|PMID:33740630|PMID:34037665|PMID:35339733|PMID:35568682|PMID:35910211|PMID:36105085|PMID:36499307|PMID:37409534|PMID:37589137|PMID:39731075|PMID:9712531
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar Annotator: match by term: Hypercholesterolemia	PMID:10064736|PMID:10066037|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10208479|PMID:10230472|PMID:10338098|PMID:10357843|PMID:10422804|PMID:10447263|PMID:10532689|PMID:10559517|PMID:10611908|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10882754|PMID:10924730|PMID:10933493|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11040093|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11373616|PMID:11462246|PMID:11506462|PMID:11585102|PMID:11641914|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12124988|PMID:12205127|PMID:12406975|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12730724|PMID:12837857|PMID:1301940|PMID:1301956|PMID:1438159|PMID:14508510|PMID:14749324|PMID:14974088|PMID:15015036|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15321837|PMID:15359125|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15952897|PMID:16092059|PMID:16159606|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16466730|PMID:16542394|PMID:16627557|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17150201|PMID:17196209|PMID:17335829|PMID:17347910|PMID:17426749|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17727860|PMID:17765246|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18247305|PMID:18263977|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18503695|PMID:18607183|PMID:18700895|PMID:18718593|PMID:18757057|PMID:18929537|PMID:19007590|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19411563|PMID:19446849|PMID:19520913|PMID:1952806|PMID:19602640|PMID:19717150|PMID:19827648|PMID:19837725|PMID:19843101|PMID:20006333|PMID:20045108|PMID:20089850|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:20428891|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20964105|PMID:21145767|PMID:21252755|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:21475731|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21925044|PMID:21935675|PMID:22081141|PMID:22089669|PMID:22160468|PMID:22294733|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22461740|PMID:22528129|PMID:22544571|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23158915|PMID:2318961|PMID:233740630|PMID:23375686|PMID:23535506|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23769672|PMID:23815734|PMID:23833242|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24163242|PMID:24234650|PMID:24284361|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24420163|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:2463228|PMID:24632281|PMID:24632287|PMID:24785115|PMID:24956927|PMID:25014035|PMID:252092|PMID:25234566|PMID:25257073|PMID:25378237|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25682026|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741871|PMID:25741873|PMID:25741890|PMID:25807990|PMID:25846081|PMID:25911074|PMID:25921077|PMID:25936317|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26077743|PMID:26220972|PMID:26228681|PMID:26238499
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar Annotator: match by term: Hypercholesterolemia	PMID:26332594|PMID:26342331|PMID:26343872|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26433113|PMID:26467025|PMID:26608663|PMID:26632531|PMID:26666465|PMID:26723464|PMID:26748104|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:27017151|PMID:27044878|PMID:27050191|PMID:27170061|PMID:27206935|PMID:27206941|PMID:27294413|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578117|PMID:27578128|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27824480|PMID:27830735|PMID:27919346|PMID:27919364|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28179607|PMID:28235710|PMID:28349240|PMID:28353356|PMID:28379029|PMID:28391882|PMID:28470529|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28502516|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28964736|PMID:28965616|PMID:2901412|PMID:29172679|PMID:29192238|PMID:29213121|PMID:29233637|PMID:29261184|PMID:29269200|PMID:29292049|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29502162|PMID:29531935|PMID:29576406|PMID:29593013|PMID:29724976|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30108616|PMID:30179711|PMID:30241732|PMID:30270055|PMID:30270081|PMID:30270083|PMID:30270084|PMID:30270087|PMID:30270359|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30649024|PMID:30710474|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30971288|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31238984|PMID:31345425|PMID:31371270|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31691639|PMID:31706281|PMID:31893465|PMID:31947532|PMID:31993549|PMID:32015373|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32104752|PMID:32120369|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32331935|PMID:32423031|PMID:32522009|PMID:32629184|PMID:32660911|PMID:32665702|PMID:32675963|PMID:32695144|PMID:32710294|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32829317|PMID:32911577|PMID:32977124|PMID:32989269|PMID:33027386|PMID:33032808|PMID:33079599|PMID:33087929|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33569482|PMID:33599434|PMID:33626794|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34029164|PMID:34037665|PMID:34074024|PMID:34100221|PMID:34167030|PMID:34176852|PMID:34182004|PMID:34234266|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34387892|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34697415|PMID:34774719|PMID:34834584|PMID:34906454|PMID:34906840|PMID:35052492|PMID:35101175|PMID:35130036|PMID:35137788|PMID:35152178|PMID:35194765|PMID:35249492|PMID:35339733|PMID:35460704|PMID:35480308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35741760|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:36105085|PMID:36226792|PMID:36229376|PMID:36325061|PMID:36464169|PMID:36499307|PMID:36507290|PMID:36648309|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36991406|PMID:37119068|PMID:37128917|PMID:37370883|PMID:37397863|PMID:37409534|PMID:37443404|PMID:37511194|PMID:37568561|PMID:37589137|PMID:37607748|PMID:37719435|PMID:37739193|PMID:37813054|PMID:37848354|PMID:37850379|PMID:37967952|PMID:38003014|PMID:38014132|PMID:38122934|PMID:38245461|PMID:38255840|PMID:38311417|PMID:38506081|PMID:38523000|PMID:38740897|PMID:38828125|PMID:39033325|PMID:39306041|PMID:39392848|PMID:39531635|PMID:39731075|PMID:39769230|PMID:39802654|PMID:39815304|PMID:4061491|PMID:4061492|PMID:40769381|PMID:41166440|PMID:41374443|PMID:41542120|PMID:601|PMID:6091915|PMID:6438436|PMID:7489239
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar Annotator: match by term: Hypercholesterolemia	PMID:7548065|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7718019|PMID:7773731|PMID:7820934|PMID:7833932|PMID:7903864|PMID:7979249|PMID:8347689|PMID:8535447|PMID:8568489|PMID:8645371|PMID:8664907|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8829662|PMID:8831933|PMID:8850176|PMID:8882879|PMID:9003505|PMID:9026534|PMID:9104431|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9212177|PMID:9225977|PMID:9237502|PMID:9259195|PMID:9262405|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9536098|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9654205|PMID:9664576|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9001733	Tinnitus		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:10357843|PMID:10559517|PMID:11668627|PMID:11810272|PMID:1301956|PMID:15952897|PMID:16159606|PMID:17539906|PMID:17765246|PMID:18325082|PMID:19837725|PMID:19843101|PMID:20236128|PMID:20828696|PMID:2088165|PMID:22883975|PMID:23375686|PMID:23669246|PMID:24033266|PMID:24627126|PMID:25461735|PMID:25741868|PMID:26467025|PMID:27680772|PMID:27765764|PMID:27824480|PMID:28159968|PMID:28492532|PMID:28873201|PMID:30586733|PMID:31345425|PMID:31447099|PMID:32041611|PMID:32143996|PMID:32331935|PMID:32719484|PMID:33418990|PMID:33740630|PMID:34037665|PMID:34167030|PMID:34297352|PMID:34906454|PMID:36464169|PMID:37739193|PMID:6091915|PMID:7548065|PMID:7603991|PMID:7979249|PMID:9484998|PMID:9678702
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9002221	Hyperplasia		ISO	RGD:735594	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9207284
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9003370	Dyslipidemias		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dyslipidemia	PMID:10066037|PMID:10208479|PMID:10230472|PMID:10338098|PMID:10447263|PMID:10532689|PMID:10657581|PMID:10735632|PMID:10882754|PMID:10978268|PMID:11005141|PMID:11139254|PMID:11194025|PMID:11196104|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11462246|PMID:11585102|PMID:11641914|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11851376|PMID:11857755|PMID:11933210|PMID:12436241|PMID:12553167|PMID:12837857|PMID:1301940|PMID:1301956|PMID:14508510|PMID:14570618|PMID:14749324|PMID:14974088|PMID:15015036|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15321837|PMID:15359125|PMID:15556094|PMID:15701167|PMID:15823288|PMID:15864114|PMID:16205024|PMID:16250003|PMID:16389549|PMID:16630895|PMID:16792510|PMID:16806138|PMID:17094996|PMID:17196209|PMID:17335829|PMID:17347910|PMID:17426749|PMID:17539906|PMID:17576681|PMID:17765246|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18247305|PMID:18263977|PMID:18325082|PMID:18700895|PMID:18718593|PMID:19026292|PMID:19073363|PMID:19118540|PMID:19208450|PMID:19318025|PMID:19411563|PMID:19446849|PMID:19717150|PMID:19837725|PMID:20045108|PMID:20089850|PMID:20145306|PMID:2021|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20964105|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21520341|PMID:21642693|PMID:21865347|PMID:21925044|PMID:21990180|PMID:22160468|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22698793|PMID:22881376|PMID:22883975|PMID:23064986|PMID:23130880|PMID:2318961|PMID:23375686|PMID:23669246|PMID:23680767|PMID:23769672|PMID:23815734|PMID:23833242|PMID:24033266|PMID:24075752|PMID:24234650|PMID:24404629|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24722143|PMID:25014035|PMID:25257073|PMID:25378237|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25637381|PMID:25647241|PMID:25741868|PMID:25741870|PMID:25741873|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26077743|PMID:26220972|PMID:26238499|PMID:26332594|PMID:26343872|PMID:26361156|PMID:26433113|PMID:26467025|PMID:26608663|PMID:26723464|PMID:26748104|PMID:26875521|PMID:26892515|PMID:26894473|PMID:27017151|PMID:27050191|PMID:27170061|PMID:27206941|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27680772|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27998977|PMID:28028493|PMID:28104544|PMID:28161202|PMID:28235710|PMID:28391882|PMID:28470529|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28502516|PMID:28645073|PMID:28932795|PMID:28965616|PMID:29172679|PMID:29192238|PMID:29233637|PMID:29261184|PMID:29292049|PMID:29353225|PMID:29399563|PMID:29502162|PMID:29531935|PMID:29693183|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30270055|PMID:30270083|PMID:30270084|PMID:30270359|PMID:30400955|PMID:30413722|PMID:30512145|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30617148|PMID:30710474|PMID:31106297|PMID:31106925|PMID:31238984|PMID:31345425|PMID:31447099|PMID:31491741|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31947532|PMID:32015373|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32143996|PMID:32220565|PMID:32331935|PMID:32423031|PMID:32660911|PMID:32710294|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32829317|PMID:32977124|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33454241|PMID:33461934|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33626794|PMID:33740630|PMID:33794673|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34037665|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34297352|PMID:34363016|PMID:34407635|PMID:34426522|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34774719|PMID:34834584|PMID:34875256|PMID:34906454|PMID:35052492|PMID:35101175|PMID:35137788|PMID:35152178|PMID:35194765|PMID:35249492|PMID:35319679|PMID:35339733|PMID:35460704|PMID:35480308|PMID:35535697|PMID:35568682|PMID:35626767|PMID:35741760|PMID:35795214
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9003370	Dyslipidemias		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dyslipidemia	PMID:35913489|PMID:35929461|PMID:36229376|PMID:36325061|PMID:36499307|PMID:36752612|PMID:36901902|PMID:36991406|PMID:37119068|PMID:37128917|PMID:37409534|PMID:37496633|PMID:37568561|PMID:37848354|PMID:37850379|PMID:37967952|PMID:38003014|PMID:38245461|PMID:38255840|PMID:38311417|PMID:38523000|PMID:39815304|PMID:41374443|PMID:41542120|PMID:7489239|PMID:7548065|PMID:7603991|PMID:7649549|PMID:7903864|PMID:7979249|PMID:8683740|PMID:8882879|PMID:9026534|PMID:9104431|PMID:9212177|PMID:9259195|PMID:9399845|PMID:9452078|PMID:9452095|PMID:9452118|PMID:9536098|PMID:9544850|PMID:9654205|PMID:9763532|PMID:9767373|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2998	D	RGD:9068941	20200609	RGD			PMID:17288738|REF_RGD_ID:2324630
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9004538	Hearing Loss		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:10735632|PMID:11139254|PMID:11317361|PMID:11641914|PMID:11754108|PMID:11810272|PMID:1301956|PMID:15199436|PMID:15241806|PMID:15864114|PMID:16250003|PMID:17196209|PMID:17335829|PMID:17539906|PMID:17765246|PMID:18206115|PMID:18263977|PMID:19026292|PMID:19118540|PMID:19446849|PMID:20145306|PMID:20506408|PMID:20663204|PMID:21310417|PMID:21382890|PMID:21865347|PMID:21925044|PMID:22390909|PMID:22698793|PMID:23375686|PMID:23833242|PMID:24033266|PMID:24404629|PMID:24507775|PMID:25412742|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25637381|PMID:25647241|PMID:25741868|PMID:25936317|PMID:26020417|PMID:26036859|PMID:26238499|PMID:26467025|PMID:26723464|PMID:27765764|PMID:27824480|PMID:27998977|PMID:28492532|PMID:28502510|PMID:28965616|PMID:29261184|PMID:29724976|PMID:30179711|PMID:30710474|PMID:31447099|PMID:31617323|PMID:31947532|PMID:32041611|PMID:32660911|PMID:32719484|PMID:32770674|PMID:32977124|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33740630|PMID:33955087|PMID:33975813|PMID:34037665|PMID:34167030|PMID:34906454|PMID:35535697|PMID:35741760|PMID:38014132|PMID:41166440|PMID:9654205
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:735594	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Left Ventricular Hypertrophy	PMID:16250003|PMID:20828696|PMID:24033266|PMID:24336170|PMID:24627126|PMID:25487149|PMID:25647241|PMID:25741862|PMID:25741868|PMID:25756439|PMID:25985138|PMID:26467025|PMID:27044878|PMID:27596133|PMID:28492532|PMID:29974534|PMID:32719484|PMID:33508743|PMID:33955087|PMID:34906454|PMID:35474963|PMID:35568682|PMID:35913489|PMID:37719435|PMID:37848354|PMID:37937776
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:10208479|PMID:10735632|PMID:10790219|PMID:11810272|PMID:12205127|PMID:12436241|PMID:12730724|PMID:14974088|PMID:15200491|PMID:15576851|PMID:16389549|PMID:16542394|PMID:16627557|PMID:17426749|PMID:17445538|PMID:18096825|PMID:18355452|PMID:19208450|PMID:19411563|PMID:19446849|PMID:19467224|PMID:20145306|PMID:20506408|PMID:25741868|PMID:26327206|PMID:26467025|PMID:27135400|PMID:27765764|PMID:27884173|PMID:28145427|PMID:28492532|PMID:30293936|PMID:34906454
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005106	Animal Toxoplasmosis		ISO	RGD:10864	D	RGD:9068941	20200609	RGD			PMID:18316222|REF_RGD_ID:5490254
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005369	Hepatomegaly		ISO	RGD:735594	D	RGD:9068941	20231207	CTD		CTD Direct Evidence: therapeutic	PMID:37459939
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:10090473|PMID:10090484|PMID:10208479|PMID:10208489|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10532689|PMID:10559517|PMID:10634824|PMID:10657581|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10978268|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11196104|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11373616|PMID:11381031|PMID:1139254|PMID:11462246|PMID:11491306|PMID:11585102|PMID:11641914|PMID:11668627|PMID:11668640|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11933210|PMID:12113284|PMID:12124988|PMID:12406975|PMID:12417285|PMID:12436241|PMID:12553167|PMID:12730724|PMID:12837857|PMID:1301940|PMID:1301956|PMID:1319734|PMID:1352322|PMID:14209286|PMID:14508510|PMID:14512370|PMID:1453433|PMID:1463746|PMID:1464748|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15100232|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15359125|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15864114|PMID:15936313|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16466730|PMID:16542394|PMID:16627557|PMID:16796766|PMID:17087781|PMID:17094996|PMID:17142622|PMID:17196209|PMID:17335829|PMID:17347910|PMID:1734910|PMID:17406740|PMID:17426749|PMID:17539906|PMID:17576681|PMID:17765246|PMID:17955342|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18503695|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19062533|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19411563|PMID:19446849|PMID:19467224|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:19717150|PMID:1978682|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20045108|PMID:20089850|PMID:20145306|PMID:20236128|PMID:2029498|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:20828696|PMID:2088165|PMID:21145767|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21418584|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21642693|PMID:21722902|PMID:21865347|PMID:21925044|PMID:21935675|PMID:21990180|PMID:220236128|PMID:22095935|PMID:22294733|PMID:22353362|PMID:22390909|PMID:22461740|PMID:22487947|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:23054246|PMID:23064986|PMID:23155708|PMID:2318961|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23669246|PMID:23680767|PMID:23833242|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24281370|PMID:24373485|PMID:24507775|PMID:24627126|PMID:24956927|PMID:25154303|PMID:25257073|PMID:25282520|PMID:25378237|PMID:25412742|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25637381|PMID:25647241|PMID:2569482|PMID:25741868|PMID:25741871|PMID:25911074|PMID:25921077|PMID:25936317|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26238499|PMID:26343872|PMID:26433113|PMID:26467025|PMID:26633542|PMID:26723464|PMID:26748104|PMID:26892515|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27206935|PMID:27247956|PMID:2726768|PMID:27542166|PMID:27578127|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27824480|PMID:27854218|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28169869|PMID:28235710|PMID:28349240|PMID:28379029|PMID:28391882|PMID:28458923|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28958694|PMID:28964736|PMID:28965616|PMID:2901412|PMID:29083407|PMID:2920733|PMID:29233637|PMID:29261184|PMID:29284604|PMID:29353225|PMID:29407885|PMID:29531935|PMID:29874871|PMID:30112042|PMID:3020025|PMID:30241732|PMID:3025214
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:30270055|PMID:30270076|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30710474|PMID:30795984|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31345425|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31727422|PMID:31980526|PMID:3198114|PMID:32015373|PMID:3202825|PMID:32041611|PMID:32143996|PMID:32220565|PMID:32331935|PMID:32522009|PMID:3263645|PMID:32660911|PMID:32719484|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32922439|PMID:32977124|PMID:33087929|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33508743|PMID:33740630|PMID:34037665|PMID:3425583|PMID:3472763|PMID:3815525|PMID:4061492|PMID:6324732|PMID:7489239|PMID:7548065|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7894220|PMID:7903864|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8347689|PMID:8399083|PMID:8535447|PMID:8645371|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9016531|PMID:9026534|PMID:9048913|PMID:9104431|PMID:9157944|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9409298|PMID:9452078|PMID:9452095|PMID:9484998|PMID:9536098|PMID:9544745|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:30312929|PMID:30333156|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30710474|PMID:30795984|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31345425|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31727422|PMID:31980526|PMID:3198114|PMID:32015373|PMID:3202825|PMID:32041611|PMID:32143996|PMID:32220565|PMID:32331935|PMID:32522009|PMID:3263645|PMID:32660911|PMID:32719484|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32922439|PMID:32977124|PMID:33087929|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33508743|PMID:33740630|PMID:34037665|PMID:3425583|PMID:3472763|PMID:3815525|PMID:4061492|PMID:6324732|PMID:7489239|PMID:7548065|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7894220|PMID:7903864|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8347689|PMID:8399083|PMID:8535447|PMID:8645371|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9016531|PMID:9026534|PMID:9048913|PMID:9104431|PMID:9157944|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9409298|PMID:9452078|PMID:9452095|PMID:9484998|PMID:9536098|PMID:9544745|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb	PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11491306|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15633194|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb	PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26833332|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb	PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34906454|PMID:3494949|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35929461|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:2143996|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26833332|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35929461|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:2143996|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042|PMID:30179711|PMID:3020025
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32165824|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35929461|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:35047021|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35631530|PMID:35929461|PMID:36226792|PMID:36229376|PMID:36325061|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:2143996|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042|PMID:30179711
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24916650|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34176852|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34570182|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:35047021|PMID:35052492|PMID:35137788|PMID:35177841|PMID:35222550|PMID:35339733|PMID:35379577|PMID:35460704|PMID:35480308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:36105085|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36267056|PMID:36325061|PMID:36507290|PMID:36769678|PMID:36901902|PMID:36973604|PMID:37119068|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa	PMID:1000167|PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11484166|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:1221619|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:1374151|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:1538685|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:1653609|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:1960926|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa	PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318907|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:2506353|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25637381|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741916|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:27989324|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa	PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:322919|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34998859|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35460704|PMID:35474963|PMID:35480308|PMID:35535697|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36422519|PMID:36499307|PMID:36507290|PMID:36727130|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:37119068|PMID:37129685|PMID:37719435|PMID:37848354|PMID:3815525|PMID:3816797|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa	PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:1000167|PMID:10064736|PMID:10066037|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10338098|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10631147|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11484166|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:1221619|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:1374151|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15321837|PMID:15359125|PMID:1538685|PMID:15477777|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16257961|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:1653609|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:189940|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:2030732|PMID:20428891|PMID:20452591
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:20506408|PMID:20538126|PMID:20663204|PMID:20717180|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:2506353|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25637381|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:322919|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963|PMID:35480308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36727130|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:36980993|PMID:37119068|PMID:37129685|PMID:37397863|PMID:37607748|PMID:37719435|PMID:37848354|PMID:38003014|PMID:3807681|PMID:3815525|PMID:3816797|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240521	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb	PMID:20663204|PMID:20717180|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:2506353|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25637381|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240521	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb	PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:322919|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963|PMID:35480308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36727130|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:37119068|PMID:37129685|PMID:37397863
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240521	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb	PMID:37607748|PMID:37719435|PMID:37848354|PMID:38003014|PMID:3807681|PMID:3815525|PMID:3816797|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240521	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:1000167|PMID:10064736|PMID:10066037|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10338098|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10631147|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11484166|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:1221619|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:1374151|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15321837|PMID:15359125|PMID:1538685|PMID:15477777|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16257961|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:1653609|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:189940|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:2030732|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:20663204|PMID:20717180|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:2506353|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25637381|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:322919|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963|PMID:35480308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36727130|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:37119068|PMID:37129685
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:37397863|PMID:37607748|PMID:37719435|PMID:37848354|PMID:38003014|PMID:3807681|PMID:3815525|PMID:3816797|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8292093|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:1000167|PMID:10064736|PMID:10066037|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10338098|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10631147|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11484166|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:1221619|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:1374151|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14673705|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15321837|PMID:15359125|PMID:1538685|PMID:15477777|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16257961|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:1653609|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:189940|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:2030732|PMID:20428891|PMID:20452591|PMID:20506408
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:20538126|PMID:20663204|PMID:20717180|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:2506353|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25637381|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:322919|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963|PMID:35480308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36727130|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:37119068|PMID:37129685|PMID:37397863|PMID:37409534|PMID:37607748|PMID:37719435|PMID:37848354|PMID:38003014|PMID:3807681|PMID:3815525|PMID:3816797|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8292093|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:1000167|PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10334477|PMID:10338098|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10631147|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11484166|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:1221619|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:1374151|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14673705|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15321837|PMID:15359125|PMID:1538685|PMID:15477777|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16257961|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:1653609|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:189940|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER	PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35460704|PMID:35474963|PMID:35480308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36422519
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER	PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36727130|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37397863|PMID:37409534|PMID:37607748|PMID:37719435|PMID:37805670|PMID:37848354|PMID:38003014|PMID:3807681|PMID:3815525|PMID:3816797|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8292093|PMID:8295321|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:2030732|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:2506353|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25278291|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25637381|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741890|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25786579|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:27989324|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33626794|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34327453|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34756585|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35460704|PMID:35474963|PMID:35480308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37397863|PMID:37409534|PMID:37568561|PMID:37607748|PMID:37719435|PMID:37805670|PMID:37848354|PMID:37937776|PMID:38003014|PMID:3807681|PMID:3815525|PMID:3816797|PMID:38245461|PMID:38374534|PMID:39481677|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8292093|PMID:8295321|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:1000167|PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10334477|PMID:10338098|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10631147|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10878268|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11484166|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:1221619|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:1374151|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14673705|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15321837|PMID:15359125|PMID:1538685|PMID:15477777|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16257961|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:1653609|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:189940|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:2029498|PMID:2030732|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:2463228|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:2506353|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25278291|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25637381|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741890|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:28334946
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29095814|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:32276786|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32675963|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33626794|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34100221|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34327453|PMID:34363016|PMID:34379075|PMID:34387892|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34497632|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34756585|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35460704|PMID:35474963|PMID:35480308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36329474|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36648309|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37370883|PMID:37397863|PMID:37409534|PMID:37568561|PMID:37607748|PMID:37719435|PMID:37805670|PMID:37848354|PMID:37937776|PMID:38003014|PMID:3807681|PMID:3815525|PMID:3816797|PMID:38245461|PMID:38374534|PMID:38523000|PMID:39481677|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8292093|PMID:8295321|PMID:8325082|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:1000167|PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10334477|PMID:10338098|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10631147|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10878268|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11484166|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12181638|PMID:12205127|PMID:1221619|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:1374151|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14673705|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15321837|PMID:15359125|PMID:1538685|PMID:15477777|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16257961|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:1653609|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:189940|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:20217239|PMID:20236128|PMID:2029498|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22095935|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:2463228|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:2506353|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25278291|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25412742|PMID:25414273|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25637381|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741890|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28587771|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29095814|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30545713|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:32276786|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32675963|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33626794|PMID:33668494|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34100221|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34327453|PMID:34363016|PMID:34379075|PMID:34387892|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34497632|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34756585|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35340792|PMID:35379577|PMID:35460704|PMID:35474963|PMID:35480308|PMID:35535697|PMID:35560019
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36329474|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36648309|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37370883|PMID:37397863|PMID:37409534|PMID:37511194|PMID:37568561|PMID:37589137|PMID:37607748|PMID:37719435|PMID:37805670|PMID:37813054|PMID:37848354|PMID:37937776|PMID:38003014|PMID:3807681|PMID:38122934|PMID:3815525|PMID:3816797|PMID:38203485|PMID:38245461|PMID:38374534|PMID:38523000|PMID:38828125|PMID:39481677|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7981713|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8292093|PMID:8295321|PMID:8325082|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:20217239|PMID:20236128|PMID:2029498|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22095935|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:233740630|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:2463228|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:2506353|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25278291|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25412742|PMID:25414273|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25637381|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741890|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:28290784|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28587771|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29095814|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30545713|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:32276786|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32675963|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33626794|PMID:33668494|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34100221|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34327453|PMID:34363016|PMID:34379075|PMID:34387892|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34497632|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34756585|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35340792|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963|PMID:35480308
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36329474|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36648309|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37370883|PMID:37397863|PMID:37409534|PMID:37511194|PMID:37568561|PMID:37589137|PMID:37607748|PMID:37719435|PMID:37805670|PMID:37813054|PMID:37848354|PMID:37937776|PMID:38003014|PMID:3807681|PMID:38122934|PMID:3815525|PMID:3816797|PMID:38203485|PMID:38245461|PMID:38374534|PMID:38523000|PMID:38828125|PMID:39481677|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7981713|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8292093|PMID:8295321|PMID:8325082|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:28235710|PMID:28290784|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28587771|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29095814|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30545713|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:32276786|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32675963|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33626794|PMID:33668494|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34100221|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34327453|PMID:34363016|PMID:34379075|PMID:34387892|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34497632|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34756585|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35340792|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:35480308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36329474|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36648309|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37370883|PMID:37397863|PMID:37409534|PMID:37417318|PMID:37511194|PMID:37568561|PMID:37589137|PMID:37607748|PMID:37719435|PMID:37805670|PMID:37813054|PMID:37848354|PMID:37937776|PMID:38003014|PMID:3807681|PMID:38122934|PMID:3815525|PMID:3816797|PMID:38203485|PMID:38245461|PMID:38374534|PMID:38523000|PMID:38828125|PMID:39481677|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7981713|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8292093|PMID:8295321|PMID:8325082|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:10634824|PMID:10657581|PMID:10978268|PMID:11005141|PMID:11040093|PMID:11196104|PMID:11317362|PMID:11373616|PMID:11641914|PMID:11668627|PMID:11668640|PMID:11810272|PMID:11851376|PMID:11933210|PMID:12124988|PMID:12436241|PMID:12459547|PMID:12730724|PMID:1301956|PMID:14508510|PMID:14974088|PMID:15015036|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15241806|PMID:15321837|PMID:15494314|PMID:15556094|PMID:15823276|PMID:15890894|PMID:15952897|PMID:16159606|PMID:16205024|PMID:16250003|PMID:16389549|PMID:16542394|PMID:16627557|PMID:16630895|PMID:17044844|PMID:17094996|PMID:17150201|PMID:17347910|PMID:17426749|PMID:17539906|PMID:17673191|PMID:17765246|PMID:17955342|PMID:18096825|PMID:18325082|PMID:18700895|PMID:18718593|PMID:18757057|PMID:19007590|PMID:19118540|PMID:19318025|PMID:19446849|PMID:19602640|PMID:19717150|PMID:19843101|PMID:20045108|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:21145767|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21511053|PMID:21642693|PMID:21868016|PMID:22294733|PMID:22390909|PMID:22461740|PMID:22698793|PMID:22859806|PMID:22883975|PMID:23064986|PMID:23375686|PMID:23669246|PMID:23680767|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24284361|PMID:24338390|PMID:24373485|PMID:24507775|PMID:24529145|PMID:24956927|PMID:25282520|PMID:25378237|PMID:25461735|PMID:25487149|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2572061|PMID:25741868|PMID:25911080|PMID:25921077|PMID:25962062|PMID:26020417|PMID:26046366|PMID:26343872|PMID:26467025|PMID:26748104|PMID:26892515|PMID:26927322|PMID:27044878|PMID:27050191|PMID:27680772|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27824480|PMID:27932355|PMID:28008010|PMID:28104544|PMID:28145427|PMID:28166811|PMID:28169869|PMID:28349240|PMID:28379029|PMID:28492532|PMID:28645073|PMID:28965616|PMID:29261184|PMID:29269200|PMID:29306853|PMID:29396260|PMID:29531935|PMID:29572815|PMID:30270055|PMID:30293936|PMID:30312929|PMID:30413722|PMID:30586733|PMID:30592178|PMID:30617148|PMID:30710474|PMID:30778614|PMID:31153816|PMID:31345425|PMID:31447099|PMID:31491741|PMID:31893465|PMID:32015373|PMID:32041611|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32522009|PMID:32675963|PMID:32719484|PMID:32770674|PMID:32977124|PMID:32989269|PMID:33087929|PMID:33303402|PMID:33418990|PMID:33740630|PMID:33807407|PMID:33955087|PMID:33994402|PMID:34037665|PMID:34167030|PMID:34297352|PMID:34407635|PMID:34456049|PMID:34756585|PMID:34834584|PMID:34906454|PMID:34961661|PMID:35222550|PMID:35339733|PMID:35460704|PMID:35568682|PMID:35913489|PMID:35929461|PMID:36105085|PMID:36229376|PMID:36499307|PMID:36769678|PMID:36901902|PMID:37370883|PMID:38122934|PMID:39531635|PMID:41166440|PMID:7548065|PMID:7603991|PMID:7606846|PMID:7649546|PMID:7979249|PMID:8882879|PMID:9026534|PMID:9104431|PMID:9259195|PMID:9409298|PMID:9452095|PMID:9544745|PMID:9664576|PMID:9678702|PMID:9727746
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:10208479|PMID:10230472|PMID:10634824|PMID:10657581|PMID:10978268|PMID:11005141|PMID:11196104|PMID:11317362|PMID:11373616|PMID:11641914|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11810272|PMID:12124988|PMID:12436241|PMID:12459547|PMID:12730724|PMID:1301956|PMID:14508510|PMID:14974088|PMID:15015036|PMID:15172466|PMID:15199436|PMID:15241806|PMID:15321837|PMID:15494314|PMID:15556094|PMID:15823276|PMID:15823288|PMID:15890894|PMID:15952897|PMID:16159606|PMID:16205024|PMID:16250003|PMID:16389549|PMID:16542394|PMID:16627557|PMID:16630895|PMID:17044844|PMID:17094996|PMID:17347910|PMID:17426749|PMID:17539906|PMID:17673191|PMID:17765246|PMID:17955342|PMID:18096825|PMID:18325082|PMID:18700895|PMID:19007590|PMID:19118540|PMID:19318025|PMID:19446849|PMID:19602640|PMID:19717150|PMID:19843101|PMID:20045108|PMID:20236128|PMID:20538126|PMID:20663204|PMID:20809525|PMID:21145767|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21511053|PMID:21868016|PMID:22390909|PMID:22698793|PMID:22859806|PMID:22883975|PMID:23064986|PMID:23375686|PMID:23669246|PMID:23680767|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24284361|PMID:24338390|PMID:24373485|PMID:24507775|PMID:24529145|PMID:24956927|PMID:25014035|PMID:25282520|PMID:25378237|PMID:25461735|PMID:25487149|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2572061|PMID:25741868|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25962062|PMID:26020417|PMID:26046366|PMID:26343872|PMID:26467025|PMID:26748104|PMID:26875521|PMID:26892515|PMID:26927322|PMID:27044878|PMID:27050191|PMID:27680772|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27932355|PMID:28008010|PMID:28104544|PMID:28145427|PMID:28166811|PMID:28169869|PMID:28349240|PMID:28379029|PMID:28492532|PMID:28502495|PMID:28645073|PMID:28965616|PMID:29172679|PMID:29269200|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29531935|PMID:29572815|PMID:29937437|PMID:30293936|PMID:30312929|PMID:30413722|PMID:30526649|PMID:30592178|PMID:30617148|PMID:30710474|PMID:30778614|PMID:31153816|PMID:31238984|PMID:31345425|PMID:31447099|PMID:31491741|PMID:31893465|PMID:32015373|PMID:32041611|PMID:32143996|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32759540|PMID:32977124|PMID:32989269|PMID:33087929|PMID:33303402|PMID:33418990|PMID:33626794|PMID:33740630|PMID:33807407|PMID:33955087|PMID:33994402|PMID:34037665|PMID:34074024|PMID:34167030|PMID:34297352|PMID:34407635|PMID:34456049|PMID:34456200|PMID:34756585|PMID:34834584|PMID:34906454|PMID:34961661|PMID:35222550|PMID:35249492|PMID:35339733|PMID:35460704|PMID:35568682|PMID:35626767|PMID:35913489|PMID:35929461|PMID:36229376|PMID:36499307|PMID:36769678|PMID:36901902|PMID:37370883|PMID:38122934|PMID:39531635|PMID:41166440|PMID:7548065|PMID:7603991|PMID:7606846|PMID:7649546|PMID:7979249|PMID:9026534|PMID:9104431|PMID:9259195|PMID:9409298|PMID:9452095|PMID:9544745|PMID:9664576|PMID:9678702|PMID:9763532
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:10090484|PMID:10208479|PMID:10230472|PMID:10422804|PMID:10634824|PMID:10657581|PMID:10735632|PMID:10978268|PMID:11005141|PMID:11040093|PMID:11196104|PMID:11317362|PMID:11373616|PMID:11585102|PMID:11641914|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11933210|PMID:12124988|PMID:12436241|PMID:12730724|PMID:1301956|PMID:14508510|PMID:14974088|PMID:15015036|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15241806|PMID:15256764|PMID:15321837|PMID:15359125|PMID:15494314|PMID:15556093|PMID:15576851|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15952897|PMID:16159606|PMID:16250003|PMID:16389549|PMID:16542394|PMID:17044844|PMID:17094996|PMID:17150201|PMID:17196209|PMID:17347910|PMID:17426749|PMID:17539906|PMID:17765246|PMID:18096825|PMID:18325082|PMID:18700895|PMID:18718593|PMID:18757057|PMID:19007590|PMID:19118540|PMID:19318025|PMID:19446849|PMID:19602640|PMID:19717150|PMID:19843101|PMID:20045108|PMID:20145306|PMID:20236128|PMID:20428891|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:21145767|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21511053|PMID:21642693|PMID:21868016|PMID:22294733|PMID:22390909|PMID:22461740|PMID:22698793|PMID:22883975|PMID:22923420|PMID:23064986|PMID:23375686|PMID:23680767|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24284361|PMID:24338390|PMID:24373485|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24956927|PMID:25014035|PMID:25282520|PMID:25378237|PMID:25437892|PMID:25461735|PMID:25487149|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2572061|PMID:25741868|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25962062|PMID:26020417|PMID:26046366|PMID:26332594|PMID:26343872|PMID:26467025|PMID:26748104|PMID:26875521|PMID:26892515|PMID:26927322|PMID:27017151|PMID:27044878|PMID:27050191|PMID:27497240|PMID:27680772|PMID:27765764|PMID:27784735|PMID:27816806|PMID:27824480|PMID:27932355|PMID:28008010|PMID:28104544|PMID:28145427|PMID:28161202|PMID:28166811|PMID:28349240|PMID:28492532|PMID:28502495|PMID:28645073|PMID:28895539|PMID:28958694|PMID:28965616|PMID:29172679|PMID:29261184|PMID:29269200|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29531935|PMID:29572815|PMID:29937437|PMID:29974534|PMID:30270055|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30413722|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30617148|PMID:30637778|PMID:30710474|PMID:30778614|PMID:31153816|PMID:31238984|PMID:31345425|PMID:31447099|PMID:31491741|PMID:31893465|PMID:31947532|PMID:32015373|PMID:32041611|PMID:32143996|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32522009|PMID:32675963|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32977124|PMID:32989269|PMID:33079599|PMID:33087929|PMID:33303402|PMID:33418990|PMID:33454241|PMID:33533259|PMID:33626794|PMID:33740630|PMID:33955087|PMID:33994402|PMID:34037665|PMID:34074024|PMID:34167030|PMID:34297352|PMID:34407635|PMID:34456049|PMID:34456200|PMID:34521694|PMID:34756585|PMID:34834584|PMID:34906454|PMID:35222550|PMID:35249492|PMID:35339733|PMID:35460704|PMID:35568682|PMID:35626767|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35929461|PMID:36105085|PMID:36229376|PMID:36325061|PMID:36499307|PMID:36769678|PMID:36901902|PMID:37409534|PMID:37482509|PMID:37589137|PMID:37848354|PMID:38122934|PMID:38523000|PMID:39392848|PMID:39531635|PMID:39731075|PMID:41166440|PMID:7548065|PMID:7603991|PMID:7606846|PMID:7649546|PMID:7820934|PMID:7979249|PMID:8882879|PMID:9026534|PMID:9104431|PMID:9259195|PMID:9409298|PMID:9452095|PMID:9544745|PMID:9664576|PMID:9712531|PMID:9727746|PMID:9763532|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:10338098|PMID:10668928|PMID:10978268|PMID:11317361|PMID:11810272|PMID:12436241|PMID:1301956|PMID:14974088|PMID:15199436|PMID:15241806|PMID:16250003|PMID:17539906|PMID:17576681|PMID:17964958|PMID:19208450|PMID:19446849|PMID:19717150|PMID:19837725|PMID:2088165|PMID:21865347|PMID:22294733|PMID:22371747|PMID:23375686|PMID:24529145|PMID:25463123|PMID:25487149|PMID:25647241|PMID:25741868|PMID:25741873|PMID:26467025|PMID:27578104|PMID:27765764|PMID:28353356|PMID:28470529|PMID:28492532|PMID:28964736|PMID:28965616|PMID:29874871|PMID:30293936|PMID:30710474|PMID:31106925|PMID:31345425|PMID:31947532|PMID:32041611|PMID:32660911|PMID:32770674|PMID:32977124|PMID:33418990|PMID:33740630|PMID:34037665|PMID:35194765|PMID:35795214|PMID:36960729|PMID:7635461|PMID:8683740|PMID:9259195|PMID:9536098|PMID:9544850|PMID:9974426
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2998	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:18054320|REF_RGD_ID:2324626
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9005734	Abdominal Pain		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:10668928|PMID:16250003|PMID:17539906|PMID:17576681|PMID:17964958|PMID:19208450|PMID:19446849|PMID:22294733|PMID:23375686|PMID:25463123|PMID:25741868|PMID:26467025|PMID:27578104|PMID:28353356|PMID:28492532|PMID:28964736|PMID:30293936|PMID:30710474|PMID:31345425|PMID:31947532|PMID:32660911|PMID:32977124|PMID:33418990|PMID:33740630|PMID:34037665|PMID:36960729|PMID:7635461|PMID:9536098
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertriglyceridemia	PMID:25741868|PMID:28492532|PMID:36229376
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:10864	D	RGD:9068941	20231026	RGD			PMID:31353547|REF_RGD_ID:401850595
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:735594	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:36108984
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9007571	Hyperlipoproteinemias		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperlipoproteinemia	PMID:11139254|PMID:11317361|PMID:11641914|PMID:11754108|PMID:1301956|PMID:15199436|PMID:15241806|PMID:15864114|PMID:17196209|PMID:17335829|PMID:17539906|PMID:17765246|PMID:18206115|PMID:18263977|PMID:19026292|PMID:19118540|PMID:19446849|PMID:20145306|PMID:20506408|PMID:20663204|PMID:21310417|PMID:21865347|PMID:21925044|PMID:22390909|PMID:22698793|PMID:23375686|PMID:24033266|PMID:24404629|PMID:24507775|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25637381|PMID:25647241|PMID:25741868|PMID:25936317|PMID:26020417|PMID:26036859|PMID:26238499|PMID:26467025|PMID:26723464|PMID:27765764|PMID:27824480|PMID:27998977|PMID:28492532|PMID:28965616|PMID:29261184|PMID:30710474|PMID:31447099|PMID:31617323|PMID:31947532|PMID:32041611|PMID:32660911|PMID:32719484|PMID:32770674|PMID:32977124|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33740630|PMID:33975813|PMID:34037665|PMID:34167030|PMID:34906454|PMID:35535697|PMID:35741760|PMID:9654205
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11139254|PMID:11317361|PMID:11641914|PMID:11754108|PMID:1301956|PMID:15199436|PMID:15241806|PMID:15864114|PMID:17196209|PMID:17335829|PMID:17539906|PMID:17765246|PMID:18206115|PMID:18263977|PMID:19026292|PMID:19118540|PMID:19446849|PMID:20145306|PMID:20506408|PMID:20663204|PMID:21310417|PMID:21865347|PMID:21925044|PMID:22390909|PMID:22698793|PMID:23375686|PMID:24033266|PMID:24404629|PMID:24507775|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25637381|PMID:25647241|PMID:25741868|PMID:25936317|PMID:26020417|PMID:26036859|PMID:26238499|PMID:26467025|PMID:26723464|PMID:27765764|PMID:27824480|PMID:27998977|PMID:28492532|PMID:28965616|PMID:29261184|PMID:30710474|PMID:31447099|PMID:31617323|PMID:31947532|PMID:32041611|PMID:32660911|PMID:32719484|PMID:32770674|PMID:32977124|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33740630|PMID:33975813|PMID:34037665|PMID:34167030|PMID:34906454|PMID:35535697|PMID:35741760|PMID:9654205
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:10208479|PMID:10735632|PMID:10790219|PMID:11810272|PMID:12205127|PMID:12436241|PMID:14974088|PMID:15200491|PMID:15576851|PMID:16389549|PMID:16542394|PMID:16627557|PMID:17426749|PMID:18096825|PMID:18355452|PMID:19208450|PMID:19411563|PMID:19446849|PMID:19467224|PMID:20145306|PMID:20506408|PMID:25741868|PMID:26327206|PMID:26467025|PMID:27135400|PMID:27765764|PMID:27884173|PMID:28145427|PMID:28492532|PMID:30293936|PMID:34906454
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:735594	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:leukocyte	PMID:19811272|REF_RGD_ID:5490253
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:10208479|PMID:10735632|PMID:10790219|PMID:11810272|PMID:12205127|PMID:12436241|PMID:14974088|PMID:15200491|PMID:15576851|PMID:16389549|PMID:16542394|PMID:16627557|PMID:17426749|PMID:18096825|PMID:18355452|PMID:19208450|PMID:19411563|PMID:19446849|PMID:19467224|PMID:20145306|PMID:20506408|PMID:25741868|PMID:26327206|PMID:26467025|PMID:27135400|PMID:27765764|PMID:27884173|PMID:28145427|PMID:28492532|PMID:30293936|PMID:34906454
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9256	colorectal cancer		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:10208479|PMID:10735632|PMID:10790219|PMID:11810272|PMID:12205127|PMID:12436241|PMID:14974088|PMID:15200491|PMID:15576851|PMID:16389549|PMID:16542394|PMID:16627557|PMID:17426749|PMID:18096825|PMID:18355452|PMID:19208450|PMID:19411563|PMID:19446849|PMID:19467224|PMID:20145306|PMID:20506408|PMID:22881376|PMID:25741868|PMID:26327206|PMID:26467025|PMID:27135400|PMID:27765764|PMID:27884173|PMID:28145427|PMID:28492532|PMID:30293936|PMID:32719484|PMID:34906454|PMID:37568561|PMID:39769230
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9452	steatotic liver disease		ISO	RGD:10864	D	RGD:9068941	20220825	MouseDO		OMIM:228100	
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9452	steatotic liver disease		ISO	RGD:2998	D	RGD:9068941	20211112	RGD			PMID:29459263|REF_RGD_ID:13703129
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9452	steatotic liver disease		ISO	RGD:735594	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:25554529|PMID:36108984
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9563	bronchiectasis		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bronchiectasis	PMID:20145306|PMID:22881376|PMID:25741868|PMID:25741890|PMID:31589614|PMID:32041611|PMID:32522009|PMID:33087929|PMID:33418990|PMID:33740630|PMID:34697415|PMID:34906840|PMID:35910211|PMID:36499307|PMID:41166440
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9834	hyperopia		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:10357843|PMID:10559517|PMID:11668627|PMID:11810272|PMID:1301956|PMID:15952897|PMID:16159606|PMID:17539906|PMID:17765246|PMID:18325082|PMID:19837725|PMID:19843101|PMID:20236128|PMID:20828696|PMID:2088165|PMID:22883975|PMID:23375686|PMID:23669246|PMID:24033266|PMID:24627126|PMID:25461735|PMID:25741868|PMID:26467025|PMID:27680772|PMID:27765764|PMID:27824480|PMID:28159968|PMID:28492532|PMID:28873201|PMID:30586733|PMID:31345425|PMID:31447099|PMID:32041611|PMID:32143996|PMID:32331935|PMID:32719484|PMID:33418990|PMID:33740630|PMID:34037665|PMID:34167030|PMID:34297352|PMID:34906454|PMID:36464169|PMID:37739193|PMID:6091915|PMID:7548065|PMID:7603991|PMID:7979249|PMID:9484998|PMID:9678702
8792209	Ldlr	low density lipoprotein receptor	gene	DOID:9970	obesity		ISO	RGD:735594	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25554529
8792231	Lrrc43	leucine rich repeat containing 43	gene	DOID:0080600	COVID-19		ISO	RGD:1602639	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8792231	Lrrc43	leucine rich repeat containing 43	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8792231	Lrrc43	leucine rich repeat containing 43	gene	DOID:1909	melanoma		ISO	RGD:1602639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8792231	Lrrc43	leucine rich repeat containing 43	gene	DOID:4362	cervical cancer		ISO	RGD:1602639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8792231	Lrrc43	leucine rich repeat containing 43	gene	DOID:5041	esophageal cancer		ISO	RGD:1602639	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8792231	Lrrc43	leucine rich repeat containing 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792231	Lrrc43	leucine rich repeat containing 43	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8792231	Lrrc43	leucine rich repeat containing 43	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8792231	Lrrc43	leucine rich repeat containing 43	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8792252	Rnaseh2b	ribonuclease H2 subunit B	gene	DOID:0050629	Aicardi-Goutieres syndrome		ISO	RGD:1606240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME	PMID:16199547|PMID:16845400|PMID:17846997|PMID:21177858|PMID:25604658|PMID:25741868|PMID:26467025|PMID:27943079|PMID:28492532|PMID:31664448
8792252	Rnaseh2b	ribonuclease H2 subunit B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8792252	Rnaseh2b	ribonuclease H2 subunit B	gene	DOID:10534	stomach cancer		ISO	RGD:1606240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8792252	Rnaseh2b	ribonuclease H2 subunit B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8792252	Rnaseh2b	ribonuclease H2 subunit B	gene	DOID:1115	sarcoma		ISO	RGD:1606240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:26467025|PMID:28492532
8792252	Rnaseh2b	ribonuclease H2 subunit B	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1606240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	
8792252	Rnaseh2b	ribonuclease H2 subunit B	gene	DOID:3275	thymoma		ISO	RGD:1606240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:26467025|PMID:28492532
8792252	Rnaseh2b	ribonuclease H2 subunit B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8792252	Rnaseh2b	ribonuclease H2 subunit B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8792252	Rnaseh2b	ribonuclease H2 subunit B	gene	DOID:630	genetic disease		ISO	RGD:1606240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8792252	Rnaseh2b	ribonuclease H2 subunit B	gene	DOID:9001350	Aicardi-Goutieres Syndrome 1		ISO	RGD:1606240	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1	PMID:25741868
8792252	Rnaseh2b	ribonuclease H2 subunit B	gene	DOID:9003907	Aicardi-Goutieres Syndrome 2		ISO	RGD:1606240	D	RGD:7240710	20180130	OMIM			
8792252	Rnaseh2b	ribonuclease H2 subunit B	gene	DOID:9003907	Aicardi-Goutieres Syndrome 2		ISO	RGD:1606240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aicardi Goutieres syndrome 2 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition	PMID:16199547|PMID:16845400|PMID:17576681|PMID:17846997|PMID:18754903|PMID:19694776|PMID:20131292|PMID:21177858|PMID:24183309|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26633542|PMID:26846091|PMID:26860721|PMID:27943079|PMID:28492532|PMID:29720203|PMID:31664448|PMID:32488064|PMID:33084218|PMID:33482855|PMID:35551623|PMID:36775013|PMID:39630935|PMID:9536098
8792252	Rnaseh2b	ribonuclease H2 subunit B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8792252	Rnaseh2b	ribonuclease H2 subunit B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606240	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8792252	Rnaseh2b	ribonuclease H2 subunit B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8792267	Lrrcc1	leucine rich repeat and coiled-coil centrosomal protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8792267	Lrrcc1	leucine rich repeat and coiled-coil centrosomal protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8792267	Lrrcc1	leucine rich repeat and coiled-coil centrosomal protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1604564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8792267	Lrrcc1	leucine rich repeat and coiled-coil centrosomal protein 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1604564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8792267	Lrrcc1	leucine rich repeat and coiled-coil centrosomal protein 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1604564	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8792267	Lrrcc1	leucine rich repeat and coiled-coil centrosomal protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8792267	Lrrcc1	leucine rich repeat and coiled-coil centrosomal protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8792267	Lrrcc1	leucine rich repeat and coiled-coil centrosomal protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604564	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8792267	Lrrcc1	leucine rich repeat and coiled-coil centrosomal protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8792267	Lrrcc1	leucine rich repeat and coiled-coil centrosomal protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8792267	Lrrcc1	leucine rich repeat and coiled-coil centrosomal protein 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1604564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hepatomegaly	PMID:25741868
8792267	Lrrcc1	leucine rich repeat and coiled-coil centrosomal protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8792317	Sfrp5	secreted frizzled related protein 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8792317	Sfrp5	secreted frizzled related protein 5	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1321235	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17923031
8792317	Sfrp5	secreted frizzled related protein 5	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1321235	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18283316
8792325	Dhx35	DEAH-box helicase 35	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8792325	Dhx35	DEAH-box helicase 35	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8792325	Dhx35	DEAH-box helicase 35	gene	DOID:10534	stomach cancer		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8792325	Dhx35	DEAH-box helicase 35	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8792325	Dhx35	DEAH-box helicase 35	gene	DOID:1115	sarcoma		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8792325	Dhx35	DEAH-box helicase 35	gene	DOID:1324	lung cancer		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8792325	Dhx35	DEAH-box helicase 35	gene	DOID:4362	cervical cancer		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8792325	Dhx35	DEAH-box helicase 35	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8792325	Dhx35	DEAH-box helicase 35	gene	DOID:5041	esophageal cancer		ISO	RGD:1322480	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8792325	Dhx35	DEAH-box helicase 35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792325	Dhx35	DEAH-box helicase 35	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8792325	Dhx35	DEAH-box helicase 35	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8792325	Dhx35	DEAH-box helicase 35	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8792325	Dhx35	DEAH-box helicase 35	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8792355	Tyro3	TYRO3 protein tyrosine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8792355	Tyro3	TYRO3 protein tyrosine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8792355	Tyro3	TYRO3 protein tyrosine kinase	gene	DOID:0060903	thrombosis		ISO	RGD:11467	D	RGD:9068941	20200609	RGD			PMID:15733062|REF_RGD_ID:1580531
8792355	Tyro3	TYRO3 protein tyrosine kinase	gene	DOID:0060903	thrombosis		ISO	RGD:736404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15733062
8792355	Tyro3	TYRO3 protein tyrosine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8792355	Tyro3	TYRO3 protein tyrosine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8792355	Tyro3	TYRO3 protein tyrosine kinase	gene	DOID:1324	lung cancer		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8792355	Tyro3	TYRO3 protein tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8792355	Tyro3	TYRO3 protein tyrosine kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8792355	Tyro3	TYRO3 protein tyrosine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8792355	Tyro3	TYRO3 protein tyrosine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:736404	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8792355	Tyro3	TYRO3 protein tyrosine kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8792355	Tyro3	TYRO3 protein tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792355	Tyro3	TYRO3 protein tyrosine kinase	gene	DOID:6039	uveal melanoma		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8792355	Tyro3	TYRO3 protein tyrosine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8792355	Tyro3	TYRO3 protein tyrosine kinase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8792355	Tyro3	TYRO3 protein tyrosine kinase	gene	DOID:9005851	46, XX Disorders of Sex Development		ISO	RGD:736404	D	RGD:8554872	20230418	ClinVar		ClinVar Annotator: match by term: 46,XX disorder of sex development	
8792355	Tyro3	TYRO3 protein tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8792398	C1qtnf6	C1q and TNF related 6	gene	DOID:3525	middle cerebral artery infarction	ameliorates	ISO	RGD:1307057	D	RGD:9068941	20230330	RGD			PMID:35322553|REF_RGD_ID:242905190
8792398	C1qtnf6	C1q and TNF related 6	gene	DOID:5844	myocardial infarction		ISO	RGD:1307057	D	RGD:9068941	20241205	RGD		protein:decreased expression:heart	PMID:25962701|REF_RGD_ID:529435444
8792398	C1qtnf6	C1q and TNF related 6	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1316024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18978792
8792434	Birc7	baculoviral IAP repeat containing 7	gene	DOID:0050860	colorectal adenoma		ISO	RGD:1345581	D	RGD:9068941	20200609	RGD			PMID:21122381|REF_RGD_ID:13217408
8792434	Birc7	baculoviral IAP repeat containing 7	gene	DOID:0050861	colorectal adenocarcinoma		ISO	RGD:1345581	D	RGD:9068941	20200609	RGD			PMID:21122381|REF_RGD_ID:13217408
8792434	Birc7	baculoviral IAP repeat containing 7	gene	DOID:1107	esophageal carcinoma	disease_progression	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:esophagus (human)	PMID:31964418|REF_RGD_ID:153344516
8792434	Birc7	baculoviral IAP repeat containing 7	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1345581	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
8792434	Birc7	baculoviral IAP repeat containing 7	gene	DOID:2526	prostate adenocarcinoma	exacerbates	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNALincreased expression:prostate gland (human)	PMID:31964418|REF_RGD_ID:153344516
8792434	Birc7	baculoviral IAP repeat containing 7	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:breast (human)	PMID:31964418|REF_RGD_ID:153344516
8792434	Birc7	baculoviral IAP repeat containing 7	gene	DOID:3717	gastric adenocarcinoma	exacerbates	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:stomach (human)	PMID:31964418|REF_RGD_ID:153344516
8792434	Birc7	baculoviral IAP repeat containing 7	gene	DOID:3948	adrenocortical carcinoma	ameliorates	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:adrenal gland (human)	PMID:31964418|REF_RGD_ID:153344516
8792434	Birc7	baculoviral IAP repeat containing 7	gene	DOID:3963	thyroid gland carcinoma	disease_progression	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:thyroid gland (human)	PMID:31964418|REF_RGD_ID:153344516
8792434	Birc7	baculoviral IAP repeat containing 7	gene	DOID:4006	bladder urothelial carcinoma	disease_progression	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:urinary bladder (human)	PMID:31964418|REF_RGD_ID:153344516
8792434	Birc7	baculoviral IAP repeat containing 7	gene	DOID:4074	pancreatic adenocarcinoma	exacerbates	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:pancreas (human)	PMID:31964418|REF_RGD_ID:153344516
8792434	Birc7	baculoviral IAP repeat containing 7	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1345581	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17437058|PMID:25401301
8792434	Birc7	baculoviral IAP repeat containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792434	Birc7	baculoviral IAP repeat containing 7	gene	DOID:6039	uveal melanoma	exacerbates	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:uvea (human)	PMID:31964418|REF_RGD_ID:153344516
8792434	Birc7	baculoviral IAP repeat containing 7	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:liver (human)	PMID:31964418|REF_RGD_ID:153344516
8792434	Birc7	baculoviral IAP repeat containing 7	gene	DOID:7474	malignant pleural mesothelioma	ameliorates	ISO	RGD:1345581	D	RGD:9068941	20220825	RGD		mRNA:increased expression:pleura, lung (human)	PMID:17253596|REF_RGD_ID:153344528
8792434	Birc7	baculoviral IAP repeat containing 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8792445	Ednra	endothelin receptor type A	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:19358946|REF_RGD_ID:4145067
8792445	Ednra	endothelin receptor type A	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20083432
8792445	Ednra	endothelin receptor type A	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:737537	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :-231G>A (human)	PMID:20083432|REF_RGD_ID:4892306
8792445	Ednra	endothelin receptor type A	gene	DOID:0050855	renal fibrosis		ISO	RGD:2535	D	RGD:9068941	20200609	RGD		associated with Ureteral obstruction;mRNA:increased expression:kidney	PMID:11078391|REF_RGD_ID:7244179
8792445	Ednra	endothelin receptor type A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8792445	Ednra	endothelin receptor type A	gene	DOID:0051061	stroke		ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:17597600|REF_RGD_ID:4892584
8792445	Ednra	endothelin receptor type A	gene	DOID:0051061	stroke		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29531354
8792445	Ednra	endothelin receptor type A	gene	DOID:0060365	mandibulofacial dysostosis with alopecia		ISO	RGD:737537	D	RGD:7240710	20180130	OMIM			
8792445	Ednra	endothelin receptor type A	gene	DOID:0060365	mandibulofacial dysostosis with alopecia		ISO	RGD:737537	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA | ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia	PMID:25741868|PMID:28492532
8792445	Ednra	endothelin receptor type A	gene	DOID:10247	pleurisy		ISO	RGD:737538	D	RGD:9068941	20200609	RGD			PMID:15107459|REF_RGD_ID:4892325
8792445	Ednra	endothelin receptor type A	gene	DOID:10534	stomach cancer		ISO	RGD:737537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8792445	Ednra	endothelin receptor type A	gene	DOID:10762	portal hypertension		ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:17214938|REF_RGD_ID:4892595
8792445	Ednra	endothelin receptor type A	gene	DOID:10763	hypertension		ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:16157796|REF_RGD_ID:1581830
8792445	Ednra	endothelin receptor type A	gene	DOID:10763	hypertension		ISO	RGD:2535	D	RGD:9068941	20200609	RGD		associated with Uremia	PMID:20144075|REF_RGD_ID:4892284
8792445	Ednra	endothelin receptor type A	gene	DOID:10763	hypertension		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12600921
8792445	Ednra	endothelin receptor type A	gene	DOID:10763	hypertension		ISO	RGD:737537	D	RGD:9068941	20200609	RGD			PMID:14616768|REF_RGD_ID:1580950
8792445	Ednra	endothelin receptor type A	gene	DOID:1184	nephrotic syndrome		ISO	RGD:2535	D	RGD:9068941	20200609	RGD		mRNA:increased expression:Glomerulus	PMID:12972712|REF_RGD_ID:7244242
8792445	Ednra	endothelin receptor type A	gene	DOID:12583	velocardiofacial syndrome		ISO	RGD:737538	D	RGD:9068941	20220825	MouseDO		OMIM:192430	
8792445	Ednra	endothelin receptor type A	gene	DOID:1682	congenital heart disease		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9811577
8792445	Ednra	endothelin receptor type A	gene	DOID:1875	impotence		ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:17420087|REF_RGD_ID:2292142
8792445	Ednra	endothelin receptor type A	gene	DOID:1875	impotence		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18823320
8792445	Ednra	endothelin receptor type A	gene	DOID:2841	asthma		ISO	RGD:737538	D	RGD:9068941	20200609	RGD			PMID:17448648|PMID:18632188|REF_RGD_ID:4892288|REF_RGD_ID:4892322
8792445	Ednra	endothelin receptor type A	gene	DOID:3275	thymoma		ISO	RGD:737537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8792445	Ednra	endothelin receptor type A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8792445	Ednra	endothelin receptor type A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792445	Ednra	endothelin receptor type A	gene	DOID:5844	myocardial infarction		ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:12524016|REF_RGD_ID:1580948
8792445	Ednra	endothelin receptor type A	gene	DOID:6000	congestive heart failure		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28095452
8792445	Ednra	endothelin receptor type A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8792445	Ednra	endothelin receptor type A	gene	DOID:630	genetic disease		ISO	RGD:737537	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8792445	Ednra	endothelin receptor type A	gene	DOID:6364	migraine		ISO	RGD:737537	D	RGD:7240710	20230505	OMIM			
8792445	Ednra	endothelin receptor type A	gene	DOID:6364	migraine		ISO	RGD:737537	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EDNRA-related condition | ClinVar Annotator: match by term: MIGRAINE, RESISTANCE TO | ClinVar Annotator: match by term: Migraine with or without aura, susceptibility to, 1	PMID:25741868|PMID:28492532
8792445	Ednra	endothelin receptor type A	gene	DOID:6432	pulmonary hypertension		ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:15243299|PMID:20531217|REF_RGD_ID:1580949|REF_RGD_ID:4892283
8792445	Ednra	endothelin receptor type A	gene	DOID:6432	pulmonary hypertension		ISO	RGD:737537	D	RGD:9068941	20200609	RGD			PMID:18506008|PMID:20562228|REF_RGD_ID:4144877|REF_RGD_ID:4892320
8792445	Ednra	endothelin receptor type A	gene	DOID:850	lung disease	severity	ISO	RGD:737537	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis	PMID:20028935|REF_RGD_ID:4892286
8792445	Ednra	endothelin receptor type A	gene	DOID:9000918	Disease Progression		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25194819
8792445	Ednra	endothelin receptor type A	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:737538	D	RGD:9068941	20200609	RGD		associated with Bladder Neoplasms	PMID:21183790|REF_RGD_ID:4892282
8792445	Ednra	endothelin receptor type A	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2535	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21191784|REF_RGD_ID:4892326
8792445	Ednra	endothelin receptor type A	gene	DOID:9002682	Cardiovascular Abnormalities		ISO	RGD:737538	D	RGD:9068941	20200609	RGD			PMID:9649553|REF_RGD_ID:734910
8792445	Ednra	endothelin receptor type A	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25194819
8792445	Ednra	endothelin receptor type A	gene	DOID:9005207	Nasopharyngeal Neoplasms		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17032313
8792445	Ednra	endothelin receptor type A	gene	DOID:9005372	Inflammation		ISO	RGD:737538	D	RGD:9068941	20200609	RGD			PMID:18632188|REF_RGD_ID:4892288
8792445	Ednra	endothelin receptor type A	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:20690982|REF_RGD_ID:4892336
8792445	Ednra	endothelin receptor type A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8792445	Ednra	endothelin receptor type A	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:737537	D	RGD:9068941	20200609	RGD			PMID:14729387|REF_RGD_ID:1580946
8792445	Ednra	endothelin receptor type A	gene	DOID:9007558	Acute Experimental Pancreatitis	treatment	ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:12799311|REF_RGD_ID:1581841
8792445	Ednra	endothelin receptor type A	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:18586023|REF_RGD_ID:4892580
8792445	Ednra	endothelin receptor type A	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:2535	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina	PMID:18600494|REF_RGD_ID:4892579
8792445	Ednra	endothelin receptor type A	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17294360|PMID:9811577
8792445	Ednra	endothelin receptor type A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8792445	Ednra	endothelin receptor type A	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10693666|PMID:9473106
8792445	Ednra	endothelin receptor type A	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:19371338|REF_RGD_ID:4892572
8792445	Ednra	endothelin receptor type A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2535	D	RGD:9068941	20200609	RGD		protein:increased expression:mesenteric artery	PMID:19286964|REF_RGD_ID:2313280
8792445	Ednra	endothelin receptor type A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16387788
8792445	Ednra	endothelin receptor type A	gene	DOID:9675	pulmonary emphysema		ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:19897563|REF_RGD_ID:4892307
8792465	Rbx1	ring-box 1	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1318229	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25811541
8792465	Rbx1	ring-box 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8792465	Rbx1	ring-box 1	gene	DOID:1909	melanoma		ISO	RGD:1318229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8792465	Rbx1	ring-box 1	gene	DOID:1933	Rubinstein-Taybi syndrome		ISO	RGD:405874299	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Rubinstein-Taybi syndrome	PMID:28492532
8792465	Rbx1	ring-box 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8792465	Rbx1	ring-box 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792474	Cibar2	CBY1 interacting BAR domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792474	Cibar2	CBY1 interacting BAR domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603858	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8792474	Cibar2	CBY1 interacting BAR domain containing 2	gene	DOID:8778	Crohn's disease		ISO	RGD:1603858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17435756
8792474	Cibar2	CBY1 interacting BAR domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8792510	Fbxo46	F-box protein 46	gene	DOID:5041	esophageal cancer		ISO	RGD:1318136	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8792510	Fbxo46	F-box protein 46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792510	Fbxo46	F-box protein 46	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8792510	Fbxo46	F-box protein 46	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8792532	Lhx5	LIM homeobox 5	gene	DOID:4362	cervical cancer		ISO	RGD:732692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8792541	Prdm15	PR/SET domain 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8792541	Prdm15	PR/SET domain 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8792541	Prdm15	PR/SET domain 15	gene	DOID:0060058	lymphoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8792541	Prdm15	PR/SET domain 15	gene	DOID:10534	stomach cancer		ISO	RGD:1320736	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8792541	Prdm15	PR/SET domain 15	gene	DOID:1324	lung cancer		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8792541	Prdm15	PR/SET domain 15	gene	DOID:1909	melanoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8792541	Prdm15	PR/SET domain 15	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8792541	Prdm15	PR/SET domain 15	gene	DOID:3070	high grade glioma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8792541	Prdm15	PR/SET domain 15	gene	DOID:3275	thymoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8792541	Prdm15	PR/SET domain 15	gene	DOID:4362	cervical cancer		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8792541	Prdm15	PR/SET domain 15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8792541	Prdm15	PR/SET domain 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1320736	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8792541	Prdm15	PR/SET domain 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792541	Prdm15	PR/SET domain 15	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8792541	Prdm15	PR/SET domain 15	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8792541	Prdm15	PR/SET domain 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8792541	Prdm15	PR/SET domain 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8792541	Prdm15	PR/SET domain 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8792571	Sp7	Sp7 transcription factor	gene	DOID:0110348	osteogenesis imperfecta type 12		ISO	RGD:736995	D	RGD:7240710	20180130	OMIM			
8792571	Sp7	Sp7 transcription factor	gene	DOID:0110348	osteogenesis imperfecta type 12		ISO	RGD:736995	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XII | ClinVar Annotator: match by term: Osteogenesis imperfecta type 12 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type XII | ClinVar Annotator: match by term: SP7-related condition	PMID:25741868|PMID:28492532
8792571	Sp7	Sp7 transcription factor	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:736995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:25741868|PMID:28492532
8792571	Sp7	Sp7 transcription factor	gene	DOID:1712	aortic valve stenosis	severity	ISO	RGD:736995	D	RGD:9068941	20230420	RGD			PMID:23578508|REF_RGD_ID:267010069
8792584	Vsig10	V-set and immunoglobulin domain containing 10	gene	DOID:10534	stomach cancer		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8792584	Vsig10	V-set and immunoglobulin domain containing 10	gene	DOID:1115	sarcoma		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8792584	Vsig10	V-set and immunoglobulin domain containing 10	gene	DOID:1909	melanoma		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8792584	Vsig10	V-set and immunoglobulin domain containing 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8792584	Vsig10	V-set and immunoglobulin domain containing 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8792584	Vsig10	V-set and immunoglobulin domain containing 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1607028	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8792584	Vsig10	V-set and immunoglobulin domain containing 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792584	Vsig10	V-set and immunoglobulin domain containing 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8792584	Vsig10	V-set and immunoglobulin domain containing 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8792584	Vsig10	V-set and immunoglobulin domain containing 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8792603	Cxcr5	C-X-C motif chemokine receptor 5	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1345690	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21399635
8792615	Cylc1	cylicin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8792615	Cylc1	cylicin 1	gene	DOID:0070599	X-linked spermatogenic failure 8		ISO	RGD:1348149	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 8	
8792615	Cylc1	cylicin 1	gene	DOID:0070599	X-linked spermatogenic failure 8	susceptibility	ISO	RGD:1348149	D	RGD:7240710	20240703	OMIM			
8792615	Cylc1	cylicin 1	gene	DOID:1324	lung cancer		ISO	RGD:1348149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8792615	Cylc1	cylicin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8792628	Znf268	zinc finger protein 268	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8792628	Znf268	zinc finger protein 268	gene	DOID:1324	lung cancer		ISO	RGD:1347350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8792628	Znf268	zinc finger protein 268	gene	DOID:1909	melanoma		ISO	RGD:1347350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
8792628	Znf268	zinc finger protein 268	gene	DOID:3275	thymoma		ISO	RGD:1347350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8792628	Znf268	zinc finger protein 268	gene	DOID:4362	cervical cancer		ISO	RGD:1347350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8792628	Znf268	zinc finger protein 268	gene	DOID:5041	esophageal cancer		ISO	RGD:1347350	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8792628	Znf268	zinc finger protein 268	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792628	Znf268	zinc finger protein 268	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8792628	Znf268	zinc finger protein 268	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
8792629	Paip2	poly(A) binding protein interacting protein 2	gene	DOID:1909	melanoma		ISO	RGD:1312240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8792629	Paip2	poly(A) binding protein interacting protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312240	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8792629	Paip2	poly(A) binding protein interacting protein 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1312240	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
8792637	Tarbp2	TARBP2 subunit of RISC loading complex	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8792637	Tarbp2	TARBP2 subunit of RISC loading complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8792637	Tarbp2	TARBP2 subunit of RISC loading complex	gene	DOID:10534	stomach cancer		ISO	RGD:1316539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8792637	Tarbp2	TARBP2 subunit of RISC loading complex	gene	DOID:1324	lung cancer		ISO	RGD:1316539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8792637	Tarbp2	TARBP2 subunit of RISC loading complex	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8792637	Tarbp2	TARBP2 subunit of RISC loading complex	gene	DOID:4362	cervical cancer		ISO	RGD:1316539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8792637	Tarbp2	TARBP2 subunit of RISC loading complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792637	Tarbp2	TARBP2 subunit of RISC loading complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8792637	Tarbp2	TARBP2 subunit of RISC loading complex	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:1316539	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25701956
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:0060260	ptosis		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28492532
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:0060308	autosomal recessive intellectual developmental disorder		ISO	RGD:1605926	D	RGD:8554872	20260721	ClinVar		ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability	
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:0070297	primary microcephaly		ISO	RGD:1605926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:2000476|PMID:20004763|PMID:20004764|PMID:25741868|PMID:28492532|PMID:29187737
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:0081098	autosomal recessive intellectual developmental disorder 13		ISO	RGD:1605926	D	RGD:7240710	20180130	OMIM			
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:0081098	autosomal recessive intellectual developmental disorder 13		ISO	RGD:1605926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 13 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 13 | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 13 | ClinVar Annotator: match by term: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | ClinVar Annotator: match by term: TRAPPC9-related condition	PMID:18414213|PMID:2000476|PMID:20004763|PMID:20004764|PMID:20004765|PMID:25741868|PMID:28440294|PMID:28492532|PMID:28940097|PMID:29187737|PMID:33513295|PMID:33767182
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:1059	intellectual disability		ISO	RGD:1605926	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome	PMID:18414213|PMID:25533962|PMID:25741868|PMID:28492532
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:1059	intellectual disability		ISO	RGD:1605926	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome	PMID:18414213|PMID:25533962|PMID:25741868|PMID:28492532|PMID:29610177
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:1059	intellectual disability		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability | ClinVar Annotator: match by term: intellectual disability	PMID:2000476|PMID:20004763|PMID:20004764|PMID:25741868|PMID:26934580|PMID:28492532|PMID:29187737|PMID:33403770
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:1059	intellectual disability		ISO	RGD:1605926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:2000476|PMID:20004763|PMID:20004764|PMID:25741868|PMID:26934580|PMID:28492532|PMID:29187737
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:1115	sarcoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:12849	autistic disorder		ISO	RGD:1605926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:2000476|PMID:20004763|PMID:20004764|PMID:25741868|PMID:28492532|PMID:29187737
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:1826	epilepsy		ISO	RGD:1605926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:2000476|PMID:20004763|PMID:20004764|PMID:25741868|PMID:28492532|PMID:29187737
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:1827	generalized epilepsy		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868|PMID:28492532
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:1909	melanoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:3275	thymoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:4362	cervical cancer		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1605926	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:5419	schizophrenia		ISO	RGD:1605926	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:6039	uveal melanoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:630	genetic disease		ISO	RGD:1605926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:2000476|PMID:20004763|PMID:20004764|PMID:25741868|PMID:26934580|PMID:28492532|PMID:29187737|PMID:35042660
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1605926	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hip dysplasia	PMID:25741868|PMID:28492532
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:25741868|PMID:28492532
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9007661	Dwarfism		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9256	colorectal cancer		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8792663	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9834	hyperopia		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
8792700	Cab39l	calcium binding protein 39 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8792700	Cab39l	calcium binding protein 39 like	gene	DOID:10534	stomach cancer		ISO	RGD:1319011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8792700	Cab39l	calcium binding protein 39 like	gene	DOID:1909	melanoma		ISO	RGD:1319011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8792700	Cab39l	calcium binding protein 39 like	gene	DOID:3275	thymoma		ISO	RGD:1319011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8792700	Cab39l	calcium binding protein 39 like	gene	DOID:4362	cervical cancer		ISO	RGD:1319011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8792700	Cab39l	calcium binding protein 39 like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8792700	Cab39l	calcium binding protein 39 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1319011	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8792700	Cab39l	calcium binding protein 39 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792700	Cab39l	calcium binding protein 39 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8792736	Ell	elongation factor for RNA polymerase II	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8792736	Ell	elongation factor for RNA polymerase II	gene	DOID:10534	stomach cancer		ISO	RGD:1322410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8792736	Ell	elongation factor for RNA polymerase II	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8792736	Ell	elongation factor for RNA polymerase II	gene	DOID:1115	sarcoma		ISO	RGD:1322410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8792736	Ell	elongation factor for RNA polymerase II	gene	DOID:1324	lung cancer		ISO	RGD:1322410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8792736	Ell	elongation factor for RNA polymerase II	gene	DOID:3275	thymoma		ISO	RGD:1322410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8792736	Ell	elongation factor for RNA polymerase II	gene	DOID:4362	cervical cancer		ISO	RGD:1322410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8792736	Ell	elongation factor for RNA polymerase II	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8792736	Ell	elongation factor for RNA polymerase II	gene	DOID:5041	esophageal cancer		ISO	RGD:1322410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8792736	Ell	elongation factor for RNA polymerase II	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792736	Ell	elongation factor for RNA polymerase II	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8792751	C1ql2	complement C1q like 2	gene	DOID:1115	sarcoma		ISO	RGD:1350440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8792751	C1ql2	complement C1q like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792758	Pfkfb2	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	gene	DOID:10534	stomach cancer		ISO	RGD:69042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8792758	Pfkfb2	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	gene	DOID:1115	sarcoma		ISO	RGD:69042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8792758	Pfkfb2	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	gene	DOID:1324	lung cancer		ISO	RGD:69042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8792758	Pfkfb2	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	gene	DOID:1909	melanoma		ISO	RGD:69042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8792758	Pfkfb2	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:69042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8792758	Pfkfb2	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:69042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8792758	Pfkfb2	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	gene	DOID:4362	cervical cancer		ISO	RGD:69042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8792758	Pfkfb2	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:69042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8792758	Pfkfb2	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792758	Pfkfb2	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8792758	Pfkfb2	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8792797	Tmem9b	TMEM9 domain family member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8792797	Tmem9b	TMEM9 domain family member B	gene	DOID:10534	stomach cancer		ISO	RGD:1321873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8792797	Tmem9b	TMEM9 domain family member B	gene	DOID:1115	sarcoma		ISO	RGD:1321873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8792797	Tmem9b	TMEM9 domain family member B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8792797	Tmem9b	TMEM9 domain family member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792815	Rtkn	rhotekin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8792815	Rtkn	rhotekin	gene	DOID:10534	stomach cancer		ISO	RGD:1354382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8792815	Rtkn	rhotekin	gene	DOID:1324	lung cancer		ISO	RGD:1354382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8792815	Rtkn	rhotekin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8792815	Rtkn	rhotekin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8792815	Rtkn	rhotekin	gene	DOID:5041	esophageal cancer		ISO	RGD:1354382	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8792815	Rtkn	rhotekin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792815	Rtkn	rhotekin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8792815	Rtkn	rhotekin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8792815	Rtkn	rhotekin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8792843	Ppp1r14d	protein phosphatase 1 regulatory inhibitor subunit 14D	gene	DOID:10534	stomach cancer		ISO	RGD:1350290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8792843	Ppp1r14d	protein phosphatase 1 regulatory inhibitor subunit 14D	gene	DOID:4362	cervical cancer		ISO	RGD:1350290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8792843	Ppp1r14d	protein phosphatase 1 regulatory inhibitor subunit 14D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792843	Ppp1r14d	protein phosphatase 1 regulatory inhibitor subunit 14D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8792852	Fam151a	family with sequence similarity 151 member A	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1603341	D	RGD:9068941	20220513	RGD		DNA:SNP:3'utr: (rs11206394) G>C (human)	PMID:27354594|REF_RGD_ID:152177496
8792864	Eif3m	eukaryotic translation initiation factor 3 subunit M	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8792864	Eif3m	eukaryotic translation initiation factor 3 subunit M	gene	DOID:10534	stomach cancer		ISO	RGD:1607072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8792864	Eif3m	eukaryotic translation initiation factor 3 subunit M	gene	DOID:1115	sarcoma		ISO	RGD:1607072	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8792864	Eif3m	eukaryotic translation initiation factor 3 subunit M	gene	DOID:1324	lung cancer		ISO	RGD:1607072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8792864	Eif3m	eukaryotic translation initiation factor 3 subunit M	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8792864	Eif3m	eukaryotic translation initiation factor 3 subunit M	gene	DOID:4362	cervical cancer		ISO	RGD:1607072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8792864	Eif3m	eukaryotic translation initiation factor 3 subunit M	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792864	Eif3m	eukaryotic translation initiation factor 3 subunit M	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8792891	Usf3	upstream transcription factor family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8792891	Usf3	upstream transcription factor family member 3	gene	DOID:0081250	CIC-rearranged sarcoma		ISO	RGD:1602969	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: CIC-DUX Sarcoma	
8792891	Usf3	upstream transcription factor family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1602969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8792891	Usf3	upstream transcription factor family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792891	Usf3	upstream transcription factor family member 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8792891	Usf3	upstream transcription factor family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8792891	Usf3	upstream transcription factor family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8792891	Usf3	upstream transcription factor family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8792891	Usf3	upstream transcription factor family member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8792901	Lztfl1	leucine zipper transcription factor like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8792901	Lztfl1	leucine zipper transcription factor like 1	gene	DOID:0080600	COVID-19		ISO	RGD:1315352	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:32558485|PMID:32998156
8792901	Lztfl1	leucine zipper transcription factor like 1	gene	DOID:0110139	Bardet-Biedl syndrome 17		ISO	RGD:1315352	D	RGD:7240710	20180130	OMIM			
8792901	Lztfl1	leucine zipper transcription factor like 1	gene	DOID:0110139	Bardet-Biedl syndrome 17		ISO	RGD:1315352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 17 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 17 | ClinVar Annotator: match by term: LZTFL1-related condition	PMID:17576681|PMID:22510444|PMID:23692385|PMID:25741868|PMID:28492532|PMID:9536098
8792901	Lztfl1	leucine zipper transcription factor like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8792901	Lztfl1	leucine zipper transcription factor like 1	gene	DOID:11162	respiratory failure		ISO	RGD:1315352	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:32558485
8792901	Lztfl1	leucine zipper transcription factor like 1	gene	DOID:1909	melanoma		ISO	RGD:1315352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8792901	Lztfl1	leucine zipper transcription factor like 1	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1315352	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	
8792901	Lztfl1	leucine zipper transcription factor like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792901	Lztfl1	leucine zipper transcription factor like 1	gene	DOID:630	genetic disease		ISO	RGD:1315352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8792901	Lztfl1	leucine zipper transcription factor like 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1315352	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
8792901	Lztfl1	leucine zipper transcription factor like 1	gene	DOID:9001827	Critical Illness		ISO	RGD:1315352	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:32558485|PMID:32998156
8792901	Lztfl1	leucine zipper transcription factor like 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8792921	Ehbp1l1	EH domain binding protein 1 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8792921	Ehbp1l1	EH domain binding protein 1 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8792921	Ehbp1l1	EH domain binding protein 1 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8792921	Ehbp1l1	EH domain binding protein 1 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8792921	Ehbp1l1	EH domain binding protein 1 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8792921	Ehbp1l1	EH domain binding protein 1 like 1	gene	DOID:3275	thymoma		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8792921	Ehbp1l1	EH domain binding protein 1 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8792921	Ehbp1l1	EH domain binding protein 1 like 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8792921	Ehbp1l1	EH domain binding protein 1 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792921	Ehbp1l1	EH domain binding protein 1 like 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8792921	Ehbp1l1	EH domain binding protein 1 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8792921	Ehbp1l1	EH domain binding protein 1 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8792921	Ehbp1l1	EH domain binding protein 1 like 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1342687	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	PMID:25741868|PMID:34645488
8792921	Ehbp1l1	EH domain binding protein 1 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: RUNX1-related disorder	
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1353044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:23161826|PMID:23708187|PMID:25741868|PMID:26989088|PMID:27334371|PMID:28492532
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:0060320	inguinal hernia		ISO	RGD:1353044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:0070035	autosomal dominant intellectual developmental disorder 5		ISO	RGD:1353044	D	RGD:7240710	20180130	OMIM			
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:0070035	autosomal dominant intellectual developmental disorder 5		ISO	RGD:1353044	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 | ClinVar Annotator: match by term: SYNGAP1-related condition | ClinVar Annotator: match by term: SYNGAP1-related developmental and epileptic encephalopathy	PMID:16199547|PMID:17576681|PMID:20683986|PMID:22692543|PMID:23161826|PMID:23687080|PMID:23708187|PMID:25363768|PMID:25640679|PMID:25741868|PMID:26079862|PMID:26989088|PMID:27334371|PMID:28492532|PMID:30541864|PMID:30572772|PMID:34621295|PMID:35051175|PMID:9536098
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:0070309	absence epilepsy		ISO	RGD:1353044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1353044	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:0081181	autosomal recessive intellectual developmental disorder 5		ISO	RGD:1353044	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 5	PMID:23161826|PMID:23708187|PMID:25741868|PMID:26989088|PMID:27334371|PMID:28492532
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1353044	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome	PMID:21237447|PMID:23161826|PMID:23708187|PMID:25167861|PMID:25741868|PMID:26079862|PMID:26989088|PMID:28492532|PMID:28554332|PMID:30541864|PMID:30581057|PMID:30800045|PMID:33639450
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1353044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:23161826|PMID:23708187|PMID:25741868|PMID:26989088|PMID:27334371|PMID:28492532|PMID:30541864
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:10907	microcephaly		ISO	RGD:1353044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:23161826|PMID:23708187|PMID:25741868|PMID:26989088|PMID:27334371|PMID:28492532
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1353044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 2	
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1353044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1353044	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:535	sleep disorder		ISO	RGD:1353044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:23161826|PMID:23708187|PMID:25741868|PMID:26989088|PMID:27334371|PMID:28492532
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:5419	schizophrenia		ISO	RGD:1617329	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:630	genetic disease		ISO	RGD:1353044	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22692543|PMID:23033978|PMID:23161826|PMID:23708187|PMID:25741868|PMID:26989088|PMID:27334371|PMID:28492532
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1353044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:23161826|PMID:23708187|PMID:25741868|PMID:26989088|PMID:27334371|PMID:28492532
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:9001581	Constipation		ISO	RGD:1353044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1353044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type I malformation	
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1353044	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889|PMID:29942082
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1353044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:23161826|PMID:23708187|PMID:25741868|PMID:26989088|PMID:27334371|PMID:28492532
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1353044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:23161826|PMID:23708187|PMID:25741868|PMID:26989088|PMID:27334371|PMID:28492532
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1353044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:23161826|PMID:23708187|PMID:25741868|PMID:26989088|PMID:27334371|PMID:28492532
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1353044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1353044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23161826|PMID:23708187|PMID:25741868|PMID:26989088|PMID:27334371|PMID:28492532
8792970	Syngap1	synaptic Ras GTPase activating protein 1	gene	DOID:9008421	Epistaxis		ISO	RGD:1353044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:26633542|PMID:28492532|PMID:39039281
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:0050486	exanthem		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skin rash	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:0050581	brachydactyly		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:0050856	oppositional defiant disorder		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oppositional defiant disorder	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:34971082
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1315433	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:0060135	apraxia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apraxia	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:0060249	scoliosis		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:0060260	ptosis		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:17576681|PMID:25741868|PMID:28492532|PMID:35861666|PMID:9536098
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:0070445	early-onset dystonia and/or spastic paraplegia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:10376	amblyopia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: amblyopia	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:10534	stomach cancer		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pigmentary retinopathy	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:1059	intellectual disability		ISO	RGD:1315433	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency	PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:27667800|PMID:28492532|PMID:32581362
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:1059	intellectual disability		ISO	RGD:1315433	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities	PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:32581362
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:1059	intellectual disability		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:17576681|PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25424714|PMID:25652421|PMID:25741868|PMID:26633542|PMID:27667800|PMID:28492532|PMID:29258554|PMID:30544257|PMID:32124548|PMID:32725632|PMID:35330407|PMID:35833929|PMID:35861666|PMID:37586838|PMID:9536098
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:1059	intellectual disability		ISO	RGD:1315433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:17576681|PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25424714|PMID:25652421|PMID:25741868|PMID:26633542|PMID:27605097|PMID:27667800|PMID:28492532|PMID:29258554|PMID:30544257|PMID:32124548|PMID:32725632|PMID:35330407|PMID:35346031|PMID:35599849|PMID:35833929|PMID:35861666|PMID:35970914|PMID:37471090|PMID:37586838|PMID:37658852|PMID:38259611|PMID:9536098
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:1059	intellectual disability		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:17576681|PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:26633542|PMID:27605097|PMID:27667800|PMID:28492532|PMID:29258554|PMID:30544257|PMID:32124548|PMID:34971082|PMID:35330407|PMID:35346031|PMID:35599849|PMID:35833929|PMID:35861666|PMID:35970914|PMID:37471090|PMID:37586838|PMID:37658852|PMID:38259611|PMID:9536098
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:10754	otitis media		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:34971082
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:10892	hypospadias		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:10907	microcephaly		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: microcephaly	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:35330407|PMID:35599849|PMID:37586838
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:29258554|PMID:34971082
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:11111	hydronephrosis		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:11383	cryptorchidism		ISO	RGD:1315433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25413698|PMID:25741868|PMID:26633542|PMID:27605097|PMID:28449295|PMID:28492532|PMID:35346031|PMID:35833929|PMID:35970914|PMID:37471090|PMID:37658852|PMID:38259611
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:11782	astigmatism		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:11830	myopia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:11836	clubfoot		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:12270	coloboma		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:12849	autistic disorder		ISO	RGD:1315433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:17576681|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:26633542|PMID:27605097|PMID:28492532|PMID:32124548|PMID:32581362|PMID:35346031|PMID:35833929|PMID:35861666|PMID:35970914|PMID:37471090|PMID:37658852|PMID:38259611|PMID:9536098
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:13636	Fanconi anemia		ISO	RGD:1315433	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:28492532
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:13922	eosinophilic esophagitis		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Eosinophilic esophagitis	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:1459	hypothyroidism		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:26633542|PMID:28492532|PMID:39039281
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:14780	KBG syndrome		ISO	RGD:1315433	D	RGD:7240710	20180130	OMIM			
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:14780	KBG syndrome		ISO	RGD:1315433	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ANKRD11-related condition | ClinVar Annotator: match by term: KBG syndrome	PMID:1218237|PMID:15378538|PMID:15384099|PMID:15523620|PMID:15955779|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19344873|PMID:19863550|PMID:19920853|PMID:21782149|PMID:23463723|PMID:23494856|PMID:24033266|PMID:24088041|PMID:25125236|PMID:25326635|PMID:25356970|PMID:25413698|PMID:25424714|PMID:25464108|PMID:25533962|PMID:25652421|PMID:25741868|PMID:26467025|PMID:26615199|PMID:26633542|PMID:26633545|PMID:27055092|PMID:27605097|PMID:27620904|PMID:27651234|PMID:27667800|PMID:27900361|PMID:28250421|PMID:28333917|PMID:28449295|PMID:28492532|PMID:28529015|PMID:28708303|PMID:28976722|PMID:29100083|PMID:29258554|PMID:29517769|PMID:29565525|PMID:29758562|PMID:30182498|PMID:30202406|PMID:30544257|PMID:30642272|PMID:30919572|PMID:30945278|PMID:31144778|PMID:31191201|PMID:31337854|PMID:31501239|PMID:31602316|PMID:31607427|PMID:31690835|PMID:32124548|PMID:32222090|PMID:32238909|PMID:32581362|PMID:32725632|PMID:32766464|PMID:33057194|PMID:33144682|PMID:33461977|PMID:33955014|PMID:34012832|PMID:34547584|PMID:34971082|PMID:35330407|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35906703|PMID:35970914|PMID:35982159|PMID:36446582|PMID:36628575|PMID:37964495|PMID:38317675|PMID:39039281|PMID:39825153|PMID:9536098
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:14780	KBG syndrome		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ANKRD11-related condition | ClinVar Annotator: match by term: KBG SYNDROME | ClinVar Annotator: match by term: KBG syndrome	PMID:1218237|PMID:15378538|PMID:15384099|PMID:15523620|PMID:15955779|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19344873|PMID:19920853|PMID:21654729|PMID:21782149|PMID:23463723|PMID:23494856|PMID:24033266|PMID:24828792|PMID:25125236|PMID:25356970|PMID:25413698|PMID:25424714|PMID:25473036|PMID:25533962|PMID:25652421|PMID:25741868|PMID:26467025|PMID:26615199|PMID:26633542|PMID:27055092|PMID:27605097|PMID:27620904|PMID:27667800|PMID:27900361|PMID:28250421|PMID:28333917|PMID:28422132|PMID:28449295|PMID:28492532|PMID:28529015|PMID:28976722|PMID:29258554|PMID:29565525|PMID:29758562|PMID:30544257|PMID:30642272|PMID:30919572|PMID:30945278|PMID:31191201|PMID:31337854|PMID:31501239|PMID:31607427|PMID:31690835|PMID:32005694|PMID:32124548|PMID:32222090|PMID:32238909|PMID:32581362|PMID:32725632|PMID:33057194|PMID:33144682|PMID:33955014|PMID:34012832|PMID:34440431|PMID:34971082|PMID:35175682|PMID:35330407|PMID:35346031|PMID:35599849|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35861666|PMID:35906703|PMID:35970914|PMID:35982159|PMID:36446582|PMID:36628575|PMID:37226940|PMID:37471090|PMID:37586838|PMID:37658852|PMID:37964495|PMID:38259611|PMID:38317675|PMID:39039281|PMID:40127276|PMID:9536098
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:1588	thrombocytopenia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:1657	ventricular septal defect		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:28449295|PMID:28492532
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:1826	epilepsy		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:27605097|PMID:28422132|PMID:28492532|PMID:29565525|PMID:32581362|PMID:34012832|PMID:35330407|PMID:36446582|PMID:38317675
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:1909	melanoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:1969	cerebral palsy		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:28449295|PMID:28492532
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:2030	anxiety disorder		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:34440431|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:2234	focal epilepsy		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:30544257
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:2340	craniosynostosis		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:2355	anemia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:2841	asthma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:2975	cystic kidney disease		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868|PMID:32581362
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:3652	Leigh disease		ISO	RGD:1315433	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Leigh's disease	PMID:25741868|PMID:28492532
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:420	hypertrichosis		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:4362	cervical cancer		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:4428	dyslexia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:4702	mongolian spot		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1315433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:535	sleep disorder		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disorder | ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:27605097
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:540	strabismus		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:557	kidney disease		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:630	genetic disease		ISO	RGD:1315433	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15378538|PMID:15955779|PMID:17576681|PMID:19344873|PMID:21782149|PMID:24828792|PMID:25125236|PMID:25356970|PMID:25413698|PMID:25424714|PMID:25473036|PMID:25652421|PMID:25741868|PMID:25954003|PMID:26467025|PMID:26615199|PMID:26633542|PMID:27605097|PMID:27618451|PMID:27667800|PMID:28490743|PMID:28492532|PMID:28600779|PMID:29258554|PMID:29565525|PMID:30544257|PMID:32124548|PMID:34012832|PMID:34440431|PMID:35346031|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35861666|PMID:35970914|PMID:36413997|PMID:36446582|PMID:37471090|PMID:37658852|PMID:38259611|PMID:38317675|PMID:39039281|PMID:9536098
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:630	genetic disease		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15378538|PMID:15955779|PMID:17576681|PMID:19344873|PMID:21782149|PMID:24828792|PMID:25125236|PMID:25356970|PMID:25413698|PMID:25424714|PMID:25473036|PMID:25533962|PMID:25652421|PMID:25741868|PMID:25954003|PMID:26467025|PMID:26615199|PMID:26633542|PMID:27605097|PMID:27618451|PMID:27667800|PMID:28422132|PMID:28490743|PMID:28492532|PMID:28600779|PMID:29258554|PMID:29565525|PMID:30544257|PMID:32124548|PMID:34012832|PMID:34440431|PMID:34971082|PMID:35330407|PMID:35346031|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35861666|PMID:35906703|PMID:35970914|PMID:36413997|PMID:36446582|PMID:37471090|PMID:37658852|PMID:38259611|PMID:38317675|PMID:39039281|PMID:9536098
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:6364	migraine		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:28492532
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:674	cleft palate		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:83	cataract		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:17576681|PMID:28492532|PMID:35861666|PMID:9536098
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9000343	Vision Disorders		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:32581362
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9000495	Tremor		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9001031	Retrognathia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28449295|PMID:28492532|PMID:32581362
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9001471	Anorectal Malformations		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anorectal anomaly	PMID:28449295|PMID:28492532
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9001510	Funnel Chest		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9001722	Dysarthria		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1315433	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17986521
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1315433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25413698|PMID:25741868|PMID:26633542|PMID:27605097|PMID:35346031|PMID:35833929|PMID:35970914|PMID:37471090|PMID:37658852|PMID:38259611
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9002720	Splenomegaly		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment | ClinVar Annotator: match by term: Mental deterioration	PMID:25741868|PMID:34440431|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9002914	Familial Sudden Death		ISO	RGD:1315433	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death in childhood	PMID:25413698|PMID:25741868|PMID:31191201
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9003133	Hypertelorism		ISO	RGD:1315433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25413698|PMID:25741868|PMID:26633542|PMID:27605097|PMID:35346031|PMID:35833929|PMID:35970914|PMID:37471090|PMID:37658852|PMID:38259611
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9003163	Heart Block		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart block	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9003760	Myalgia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9004147	Anosmia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anosmia	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315433	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9004538	Hearing Loss		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: hearing impairment	PMID:25741868|PMID:32581362
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9005077	Joint Instability		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: speech delay	PMID:25741868|PMID:28492532
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:26633542|PMID:28492532|PMID:39039281
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9005560	Congenital Hip Dislocation		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hip dislocation	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:17576681|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:32124548|PMID:32581362|PMID:34440431|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35861666|PMID:35970914|PMID:9536098
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9005616	Micrognathism		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1315433	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:32581362
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9007573	Flatfoot		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:34440431|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:25356970|PMID:25741868
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9007661	Dwarfism		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:17576681|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25473036|PMID:25652421|PMID:25741868|PMID:26633542|PMID:27605097|PMID:27667800|PMID:28449295|PMID:28492532|PMID:29258554|PMID:35330407|PMID:35346031|PMID:35599849|PMID:35833929|PMID:35861666|PMID:35970914|PMID:37471090|PMID:37586838|PMID:37658852|PMID:38259611|PMID:9536098
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:26633542|PMID:27605097|PMID:28492532|PMID:31607427|PMID:32124548|PMID:32581362|PMID:33955014|PMID:34440431|PMID:35346031|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914|PMID:37471090|PMID:37658852|PMID:38259611|PMID:39039281
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:34971082
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9008327	Bone Cysts		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bone cyst	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9008582	Developmental Disease		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:32124548
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9008681	Deafness		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness | ClinVar Annotator: match by term: deafness	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9008682	Velopharyngeal Insufficiency		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Velopharyngeal insufficiency	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:26633542|PMID:28492532|PMID:39039281
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9008821	Otitis Media with Effusion		ISO	RGD:1315433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Otitis media with effusion	PMID:25413698|PMID:25741868|PMID:26633542|PMID:27605097|PMID:35346031|PMID:35833929|PMID:35970914|PMID:37471090|PMID:37658852|PMID:38259611
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:34971082
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9834	hyperopia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:34440431|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9970	obesity		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
8793056	Ankrd11	ankyrin repeat domain containing 11	gene	DOID:9993	hypoglycemia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
8793106	Adgrf5	adhesion G protein-coupled receptor F5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8793106	Adgrf5	adhesion G protein-coupled receptor F5	gene	DOID:10534	stomach cancer		ISO	RGD:1347693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8793106	Adgrf5	adhesion G protein-coupled receptor F5	gene	DOID:1115	sarcoma		ISO	RGD:1347693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8793106	Adgrf5	adhesion G protein-coupled receptor F5	gene	DOID:1324	lung cancer		ISO	RGD:1347693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8793106	Adgrf5	adhesion G protein-coupled receptor F5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8793106	Adgrf5	adhesion G protein-coupled receptor F5	gene	DOID:3275	thymoma		ISO	RGD:1347693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8793106	Adgrf5	adhesion G protein-coupled receptor F5	gene	DOID:5041	esophageal cancer		ISO	RGD:1347693	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8793106	Adgrf5	adhesion G protein-coupled receptor F5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793106	Adgrf5	adhesion G protein-coupled receptor F5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8793141	N4bp2l2	NEDD4 binding protein 2 like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8793141	N4bp2l2	NEDD4 binding protein 2 like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8793141	N4bp2l2	NEDD4 binding protein 2 like 2	gene	DOID:1115	sarcoma		ISO	RGD:1603408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8793141	N4bp2l2	NEDD4 binding protein 2 like 2	gene	DOID:1909	melanoma		ISO	RGD:1603408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8793141	N4bp2l2	NEDD4 binding protein 2 like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8793141	N4bp2l2	NEDD4 binding protein 2 like 2	gene	DOID:37	skin disease		ISO	RGD:1603408	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8793141	N4bp2l2	NEDD4 binding protein 2 like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8793141	N4bp2l2	NEDD4 binding protein 2 like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793141	N4bp2l2	NEDD4 binding protein 2 like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8793141	N4bp2l2	NEDD4 binding protein 2 like 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1603408	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
8793141	N4bp2l2	NEDD4 binding protein 2 like 2	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1603408	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8793141	N4bp2l2	NEDD4 binding protein 2 like 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1603408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8793157	Tubb4b	tubulin beta 4B class IVb	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1601774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
8793157	Tubb4b	tubulin beta 4B class IVb	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1601774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25741868|PMID:29198720
8793157	Tubb4b	tubulin beta 4B class IVb	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1601774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:25741868
8793157	Tubb4b	tubulin beta 4B class IVb	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8793157	Tubb4b	tubulin beta 4B class IVb	gene	DOID:0112240	Leber congenital amaurosis with early-onset deafness		ISO	RGD:1601774	D	RGD:7240710	20190315	OMIM			
8793157	Tubb4b	tubulin beta 4B class IVb	gene	DOID:0112240	Leber congenital amaurosis with early-onset deafness		ISO	RGD:1601774	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis with early-onset deafness | ClinVar Annotator: match by term: TUBB4B-related condition	PMID:25741868|PMID:28492532|PMID:29198720
8793157	Tubb4b	tubulin beta 4B class IVb	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1601774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
8793157	Tubb4b	tubulin beta 4B class IVb	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8793157	Tubb4b	tubulin beta 4B class IVb	gene	DOID:1909	melanoma		ISO	RGD:1601774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8793157	Tubb4b	tubulin beta 4B class IVb	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793157	Tubb4b	tubulin beta 4B class IVb	gene	DOID:630	genetic disease		ISO	RGD:1601774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17124495|PMID:24526230|PMID:24850488
8793157	Tubb4b	tubulin beta 4B class IVb	gene	DOID:8501	fundus dystrophy		ISO	RGD:1601774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:29198720
8793157	Tubb4b	tubulin beta 4B class IVb	gene	DOID:9000343	Vision Disorders		ISO	RGD:1601774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
8793157	Tubb4b	tubulin beta 4B class IVb	gene	DOID:9000590	Dyspnea		ISO	RGD:1601774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:25741868
8793157	Tubb4b	tubulin beta 4B class IVb	gene	DOID:9003507	Premature Birth		ISO	RGD:1601774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
8793157	Tubb4b	tubulin beta 4B class IVb	gene	DOID:9004538	Hearing Loss		ISO	RGD:1601774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:29198720
8793157	Tubb4b	tubulin beta 4B class IVb	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1601774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8793157	Tubb4b	tubulin beta 4B class IVb	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1601774	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8793157	Tubb4b	tubulin beta 4B class IVb	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1601774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8793157	Tubb4b	tubulin beta 4B class IVb	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1557719	D	RGD:9068941	20260514	MouseDO			
8793157	Tubb4b	tubulin beta 4B class IVb	gene	DOID:9834	hyperopia		ISO	RGD:1601774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
8793174	Stk32a	serine/threonine kinase 32A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8793174	Stk32a	serine/threonine kinase 32A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8793174	Stk32a	serine/threonine kinase 32A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8793174	Stk32a	serine/threonine kinase 32A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793174	Stk32a	serine/threonine kinase 32A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8793174	Stk32a	serine/threonine kinase 32A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318050	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
8793200	Brf2	BRF2 general transcription factor IIIB subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8793200	Brf2	BRF2 general transcription factor IIIB subunit	gene	DOID:0060058	lymphoma		ISO	RGD:1318806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8793200	Brf2	BRF2 general transcription factor IIIB subunit	gene	DOID:10283	prostate cancer		ISO	RGD:1318806	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:25741868
8793200	Brf2	BRF2 general transcription factor IIIB subunit	gene	DOID:10283	prostate cancer		ISO	RGD:1318806	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	PMID:25741868
8793200	Brf2	BRF2 general transcription factor IIIB subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8793200	Brf2	BRF2 general transcription factor IIIB subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793200	Brf2	BRF2 general transcription factor IIIB subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:0050581	brachydactyly		ISO	RGD:734436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25961942|PMID:4774535
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:0051061	stroke		ISO	RGD:734436	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29531354
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:0060903	thrombosis		ISO	RGD:734436	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17482796
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:0111247	hypertension and brachydactyly syndrome		ISO	RGD:734436	D	RGD:7240710	20180130	OMIM			
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:0111247	hypertension and brachydactyly syndrome		ISO	RGD:734436	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bilginturan syndrome | ClinVar Annotator: match by term: HYPERTENSION AND BRACHYDACTYLY SYNDROME | ClinVar Annotator: match by term: PDE3A-related condition	PMID:25741868|PMID:25961942|PMID:28492532
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:10283	prostate cancer		ISO	RGD:734436	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:10534	stomach cancer		ISO	RGD:734436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:1324	lung cancer		ISO	RGD:734436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:3275	thymoma		ISO	RGD:734436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:734436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:5041	esophageal cancer		ISO	RGD:734436	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:5844	myocardial infarction		ISO	RGD:734436	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19027736
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:630	genetic disease		ISO	RGD:734436	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25961942|PMID:28492532|PMID:4774535
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:6364	migraine		ISO	RGD:734436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25961942|PMID:4774535
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:6432	pulmonary hypertension		ISO	RGD:61942	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pulmonary artery	PMID:12466227|REF_RGD_ID:1582528
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:61942	D	RGD:9068941	20200609	RGD			PMID:12834273|REF_RGD_ID:2312523
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:61942	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:mesenteric artery	PMID:12793980|REF_RGD_ID:2300416
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:9007661	Dwarfism		ISO	RGD:734436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25961942|PMID:4774535
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:9256	colorectal cancer		ISO	RGD:734436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8793209	Pde3a	phosphodiesterase 3A	gene	DOID:9970	obesity		ISO	RGD:61942	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:heart	PMID:9648839|REF_RGD_ID:2300415
8793239	Phlda3	pleckstrin homology like domain family A member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8793239	Phlda3	pleckstrin homology like domain family A member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8793239	Phlda3	pleckstrin homology like domain family A member 3	gene	DOID:5844	myocardial infarction		ISO	RGD:1321441	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:34351043
8793239	Phlda3	pleckstrin homology like domain family A member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8793239	Phlda3	pleckstrin homology like domain family A member 3	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1321441	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:34351043
8793245	Rnf169	ring finger protein 169	gene	DOID:10534	stomach cancer		ISO	RGD:1602283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8793245	Rnf169	ring finger protein 169	gene	DOID:1115	sarcoma		ISO	RGD:1602283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8793245	Rnf169	ring finger protein 169	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793245	Rnf169	ring finger protein 169	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8793256	Zgrf1	zinc finger GRF-type containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8793256	Zgrf1	zinc finger GRF-type containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8793256	Zgrf1	zinc finger GRF-type containing 1	gene	DOID:0060058	lymphoma		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8793256	Zgrf1	zinc finger GRF-type containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8793256	Zgrf1	zinc finger GRF-type containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	
8793256	Zgrf1	zinc finger GRF-type containing 1	gene	DOID:1909	melanoma		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8793256	Zgrf1	zinc finger GRF-type containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8793256	Zgrf1	zinc finger GRF-type containing 1	gene	DOID:3275	thymoma		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8793256	Zgrf1	zinc finger GRF-type containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8793256	Zgrf1	zinc finger GRF-type containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8793256	Zgrf1	zinc finger GRF-type containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8793256	Zgrf1	zinc finger GRF-type containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8793256	Zgrf1	zinc finger GRF-type containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8793256	Zgrf1	zinc finger GRF-type containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793256	Zgrf1	zinc finger GRF-type containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8793256	Zgrf1	zinc finger GRF-type containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8793256	Zgrf1	zinc finger GRF-type containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8793319	Med16	mediator complex subunit 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8793319	Med16	mediator complex subunit 16	gene	DOID:10534	stomach cancer		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8793319	Med16	mediator complex subunit 16	gene	DOID:1059	intellectual disability		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: intellectual disability syndrome	
8793319	Med16	mediator complex subunit 16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8793319	Med16	mediator complex subunit 16	gene	DOID:1115	sarcoma		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8793319	Med16	mediator complex subunit 16	gene	DOID:1324	lung cancer		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8793319	Med16	mediator complex subunit 16	gene	DOID:1909	melanoma		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8793319	Med16	mediator complex subunit 16	gene	DOID:289	endometriosis		ISO	RGD:1317518	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
8793319	Med16	mediator complex subunit 16	gene	DOID:3275	thymoma		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8793319	Med16	mediator complex subunit 16	gene	DOID:5041	esophageal cancer		ISO	RGD:1317518	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8793319	Med16	mediator complex subunit 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793319	Med16	mediator complex subunit 16	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8793319	Med16	mediator complex subunit 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8793319	Med16	mediator complex subunit 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8793319	Med16	mediator complex subunit 16	gene	DOID:9009364	Guillouet-Gordon syndrome		ISO	RGD:1317518	D	RGD:7240710	20250730	OMIM			
8793319	Med16	mediator complex subunit 16	gene	DOID:9009364	Guillouet-Gordon syndrome		ISO	RGD:1317518	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GUILLOUET-GORDON SYNDROME | ClinVar Annotator: match by term: Guillouet-Gordon syndrome	PMID:25741868
8793346	Cnot6l	CCR4-NOT transcription complex subunit 6 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8793346	Cnot6l	CCR4-NOT transcription complex subunit 6 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8793346	Cnot6l	CCR4-NOT transcription complex subunit 6 like	gene	DOID:10534	stomach cancer		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8793346	Cnot6l	CCR4-NOT transcription complex subunit 6 like	gene	DOID:1115	sarcoma		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8793346	Cnot6l	CCR4-NOT transcription complex subunit 6 like	gene	DOID:1909	melanoma		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8793346	Cnot6l	CCR4-NOT transcription complex subunit 6 like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8793346	Cnot6l	CCR4-NOT transcription complex subunit 6 like	gene	DOID:3275	thymoma		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8793346	Cnot6l	CCR4-NOT transcription complex subunit 6 like	gene	DOID:4362	cervical cancer		ISO	RGD:1319296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8793346	Cnot6l	CCR4-NOT transcription complex subunit 6 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1319296	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8793346	Cnot6l	CCR4-NOT transcription complex subunit 6 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793346	Cnot6l	CCR4-NOT transcription complex subunit 6 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8793346	Cnot6l	CCR4-NOT transcription complex subunit 6 like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8793346	Cnot6l	CCR4-NOT transcription complex subunit 6 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8793346	Cnot6l	CCR4-NOT transcription complex subunit 6 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8793346	Cnot6l	CCR4-NOT transcription complex subunit 6 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8793365	Rpn2	ribophorin II	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8793365	Rpn2	ribophorin II	gene	DOID:10534	stomach cancer		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8793365	Rpn2	ribophorin II	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8793365	Rpn2	ribophorin II	gene	DOID:1909	melanoma		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8793365	Rpn2	ribophorin II	gene	DOID:3070	high grade glioma		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8793365	Rpn2	ribophorin II	gene	DOID:3275	thymoma		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8793365	Rpn2	ribophorin II	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8793365	Rpn2	ribophorin II	gene	DOID:4362	cervical cancer		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8793365	Rpn2	ribophorin II	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8793365	Rpn2	ribophorin II	gene	DOID:5041	esophageal cancer		ISO	RGD:732277	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8793365	Rpn2	ribophorin II	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:732277	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation	PMID:25741868|PMID:28492532
8793365	Rpn2	ribophorin II	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793365	Rpn2	ribophorin II	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732277	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8793365	Rpn2	ribophorin II	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8793365	Rpn2	ribophorin II	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8793393	Sh3bgrl	SH3 domain binding glutamate rich protein like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8793393	Sh3bgrl	SH3 domain binding glutamate rich protein like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8793393	Sh3bgrl	SH3 domain binding glutamate rich protein like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793393	Sh3bgrl	SH3 domain binding glutamate rich protein like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8793393	Sh3bgrl	SH3 domain binding glutamate rich protein like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8793401	Ppp4r3a	protein phosphatase 4 regulatory subunit 3A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8793401	Ppp4r3a	protein phosphatase 4 regulatory subunit 3A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8793401	Ppp4r3a	protein phosphatase 4 regulatory subunit 3A	gene	DOID:10534	stomach cancer		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8793401	Ppp4r3a	protein phosphatase 4 regulatory subunit 3A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8793401	Ppp4r3a	protein phosphatase 4 regulatory subunit 3A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8793401	Ppp4r3a	protein phosphatase 4 regulatory subunit 3A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8793401	Ppp4r3a	protein phosphatase 4 regulatory subunit 3A	gene	DOID:5041	esophageal cancer		ISO	RGD:1319189	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8793401	Ppp4r3a	protein phosphatase 4 regulatory subunit 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793401	Ppp4r3a	protein phosphatase 4 regulatory subunit 3A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8793401	Ppp4r3a	protein phosphatase 4 regulatory subunit 3A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8793401	Ppp4r3a	protein phosphatase 4 regulatory subunit 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8793424	Gpx8	glutathione peroxidase 8 (putative)	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1603792	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8793424	Gpx8	glutathione peroxidase 8 (putative)	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603792	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8793435	Pmm1	phosphomannomutase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8793435	Pmm1	phosphomannomutase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8793435	Pmm1	phosphomannomutase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8793435	Pmm1	phosphomannomutase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8793435	Pmm1	phosphomannomutase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8793435	Pmm1	phosphomannomutase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:9070917
8793435	Pmm1	phosphomannomutase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8793435	Pmm1	phosphomannomutase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8793469	Bloc1s2	biogenesis of lysosomal organelles complex 1 subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8793469	Bloc1s2	biogenesis of lysosomal organelles complex 1 subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8793469	Bloc1s2	biogenesis of lysosomal organelles complex 1 subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8793469	Bloc1s2	biogenesis of lysosomal organelles complex 1 subunit 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8793469	Bloc1s2	biogenesis of lysosomal organelles complex 1 subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315231	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8793469	Bloc1s2	biogenesis of lysosomal organelles complex 1 subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793469	Bloc1s2	biogenesis of lysosomal organelles complex 1 subunit 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315231	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8793469	Bloc1s2	biogenesis of lysosomal organelles complex 1 subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8793469	Bloc1s2	biogenesis of lysosomal organelles complex 1 subunit 2	gene	DOID:9007194	Sciatica		ISO	RGD:1306551	D	RGD:9068941	20200609	RGD			PMID:16176350|REF_RGD_ID:2302154
8793469	Bloc1s2	biogenesis of lysosomal organelles complex 1 subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8793483	Cflar	CASP8 and FADD like apoptosis regulator	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1347509	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:lung myofibroblast:	PMID:22582174|REF_RGD_ID:11341695
8793483	Cflar	CASP8 and FADD like apoptosis regulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8793483	Cflar	CASP8 and FADD like apoptosis regulator	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1347509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16105982
8793483	Cflar	CASP8 and FADD like apoptosis regulator	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1347509	D	RGD:9068941	20200609	RGD			PMID:14562111|REF_RGD_ID:11341680
8793483	Cflar	CASP8 and FADD like apoptosis regulator	gene	DOID:0080797	nasal type extranodal NK/T-cell lymphoma		ISO	RGD:1347509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15924153
8793483	Cflar	CASP8 and FADD like apoptosis regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8793483	Cflar	CASP8 and FADD like apoptosis regulator	gene	DOID:1240	leukemia		ISO	RGD:1347509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12970779
8793483	Cflar	CASP8 and FADD like apoptosis regulator	gene	DOID:1793	pancreatic cancer		ISO	RGD:1347509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20876774
8793483	Cflar	CASP8 and FADD like apoptosis regulator	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:731977	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:lung myofibroblast:	PMID:22582174|REF_RGD_ID:11341695
8793483	Cflar	CASP8 and FADD like apoptosis regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793483	Cflar	CASP8 and FADD like apoptosis regulator	gene	DOID:6000	congestive heart failure		ISO	RGD:1347509	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:cardiomyocyte:	PMID:11033112|REF_RGD_ID:11341730
8793483	Cflar	CASP8 and FADD like apoptosis regulator	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:1347509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17659339
8793483	Cflar	CASP8 and FADD like apoptosis regulator	gene	DOID:9000146	Plaque, Atherosclerotic		ISO	RGD:1347509	D	RGD:9068941	20200609	RGD		protein:decreased expression:endothelial cell,macrophage:	PMID:10623660|REF_RGD_ID:11341688
8793483	Cflar	CASP8 and FADD like apoptosis regulator	gene	DOID:9006182	Carotid Artery Injuries	disease_progression	ISO	RGD:620847	D	RGD:9068941	20200609	RGD			PMID:10623660|REF_RGD_ID:11341688
8793483	Cflar	CASP8 and FADD like apoptosis regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8793483	Cflar	CASP8 and FADD like apoptosis regulator	gene	DOID:9007480	Hyperoxia		ISO	RGD:620847	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex (rat)	PMID:19107989|REF_RGD_ID:8662854
8793483	Cflar	CASP8 and FADD like apoptosis regulator	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:620847	D	RGD:9068941	20200609	RGD			PMID:18466417|REF_RGD_ID:11341714
8793483	Cflar	CASP8 and FADD like apoptosis regulator	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1347509	D	RGD:9068941	20200609	RGD			PMID:23167276|REF_RGD_ID:11341679
8793518	Soat1	sterol O-acyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8793518	Soat1	sterol O-acyltransferase 1	gene	DOID:10230	aortic atherosclerosis	ameliorates	ISO	RGD:1552527	D	RGD:9068941	20210514	RGD		associated with Hypercholesterolemia	PMID:30282838|REF_RGD_ID:126925208
8793518	Soat1	sterol O-acyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8793518	Soat1	sterol O-acyltransferase 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:731039	D	RGD:9068941	20210514	RGD		DNA:Missense mutations, haplotype:CDS:multiple (mouse)	PMID:22022387|REF_RGD_ID:126925202
8793518	Soat1	sterol O-acyltransferase 1	gene	DOID:12140	Chagas disease	ameliorates	ISO	RGD:731038	D	RGD:9068941	20210514	RGD		DNA:SNP:exon: rs1044925 (human)	PMID:31236660|REF_RGD_ID:126925205
8793518	Soat1	sterol O-acyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8793518	Soat1	sterol O-acyltransferase 1	gene	DOID:1936	atherosclerosis	ameliorates	ISO	RGD:731039	D	RGD:9068941	20210514	RGD		myeloid knockout	PMID:31495784|REF_RGD_ID:126925203
8793518	Soat1	sterol O-acyltransferase 1	gene	DOID:3345	xanthomatosis		ISO	RGD:731039	D	RGD:9068941	20210514	RGD		associated with atherosclerosis	PMID:30354239|REF_RGD_ID:126925206
8793518	Soat1	sterol O-acyltransferase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8793518	Soat1	sterol O-acyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8793518	Soat1	sterol O-acyltransferase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8793518	Soat1	sterol O-acyltransferase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8793518	Soat1	sterol O-acyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:731038	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8793518	Soat1	sterol O-acyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793518	Soat1	sterol O-acyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8793518	Soat1	sterol O-acyltransferase 1	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:731038	D	RGD:9068941	20210514	RGD		associated with hepatitis B;protein:increased expression:liver (human)	PMID:30814741|REF_RGD_ID:126925204
8793518	Soat1	sterol O-acyltransferase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731038	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8793518	Soat1	sterol O-acyltransferase 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8793518	Soat1	sterol O-acyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8793518	Soat1	sterol O-acyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8793518	Soat1	sterol O-acyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8793518	Soat1	sterol O-acyltransferase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731039	D	RGD:9068941	20210514	RGD		mRNA:increased expression:peritoneal macrophage (mouse)	PMID:26606676|REF_RGD_ID:126925207
8793538	Mex3c	mex-3 RNA binding family member C	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1319133	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
8793538	Mex3c	mex-3 RNA binding family member C	gene	DOID:1324	lung cancer		ISO	RGD:1319133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8793538	Mex3c	mex-3 RNA binding family member C	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8793538	Mex3c	mex-3 RNA binding family member C	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1319133	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:10534	stomach cancer		ISO	RGD:731811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:1324	lung cancer		ISO	RGD:731811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:1793	pancreatic cancer		ISO	RGD:731811	D	RGD:9068941	20200609	RGD			PMID:9714055|REF_RGD_ID:2317217
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:219	colon cancer		ISO	RGD:731811	D	RGD:9068941	20200609	RGD		DNA:mutation:polyadenine tract	PMID:14988818|REF_RGD_ID:2301065
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:3883	Lynch syndrome		ISO	RGD:731811	D	RGD:9068941	20220721	RGD		DNA:mutations:cds: (human)	PMID:28218421|REF_RGD_ID:153297765
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:4258	Weissenbacher-Zweymuller syndrome		ISO	RGD:1550139	D	RGD:9068941	20220825	MouseDO		OMIM:261800	
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:4362	cervical cancer		ISO	RGD:731811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:731811	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:5844	myocardial infarction		ISO	RGD:1550139	D	RGD:9068941	20230615	RGD		mRNA:decreased expression:myocardium (mouse)	PMID:32427381|REF_RGD_ID:329849118
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:731811	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25701956
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:9000965	Neoplasm Metastasis	exacerbates	ISO	RGD:731811	D	RGD:9068941	20220224	RGD		associated with colon cancer;mRNA,protein:decreased expression:colon (human)	PMID:30310521|REF_RGD_ID:151361136
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:70911	D	RGD:9068941	20240411	RGD		mRNA:decreased expression:liver	PMID:12706302|REF_RGD_ID:2325237
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:731811	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:16337854|REF_RGD_ID:2301061
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:9008763	Femoral Fractures		ISO	RGD:70911	D	RGD:9068941	20200609	RGD			PMID:9076583|REF_RGD_ID:2325239
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8793544	Acvr2a	activin A receptor type 2A	gene	DOID:9975	cocaine dependence	ameliorates	ISO	RGD:70911	D	RGD:9068941	20250301	RGD			PMID:26030849|REF_RGD_ID:597830060
8793566	Slc39a3	solute carrier family 39 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8793573	Znf217	zinc finger protein 217	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318226	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8793573	Znf217	zinc finger protein 217	gene	DOID:0080909	castration-resistant prostate carcinoma		ISO	RGD:1318226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29581250
8793573	Znf217	zinc finger protein 217	gene	DOID:10534	stomach cancer		ISO	RGD:1318226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8793573	Znf217	zinc finger protein 217	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8793573	Znf217	zinc finger protein 217	gene	DOID:1909	melanoma		ISO	RGD:1318226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8793573	Znf217	zinc finger protein 217	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8793573	Znf217	zinc finger protein 217	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8793580	Rbm42	RNA binding motif protein 42	gene	DOID:1324	lung cancer		ISO	RGD:1601847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8793580	Rbm42	RNA binding motif protein 42	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8793580	Rbm42	RNA binding motif protein 42	gene	DOID:5041	esophageal cancer		ISO	RGD:1601847	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8793580	Rbm42	RNA binding motif protein 42	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793580	Rbm42	RNA binding motif protein 42	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:0080000	muscular disease		ISO	RGD:1353383	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29905857
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:0110660	congenital myasthenic syndrome 12		ISO	RGD:1353383	D	RGD:7240710	20180130	OMIM			
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:0110660	congenital myasthenic syndrome 12		ISO	RGD:1353383	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 12 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 12 | ClinVar Annotator: match by term: Myasthenia, congenital, 12, with tubular aggregates	PMID:16199547|PMID:17576681|PMID:18414213|PMID:21310273|PMID:21975507|PMID:23488891|PMID:23569079|PMID:23794683|PMID:24033266|PMID:25635128|PMID:25741868|PMID:25765662|PMID:26467025|PMID:28464723|PMID:28492532|PMID:28712002|PMID:29054425|PMID:30124556|PMID:30653653|PMID:32140910|PMID:32403337|PMID:32528171|PMID:32754643|PMID:33756069|PMID:34978387|PMID:36188410|PMID:37366078|PMID:37721175|PMID:9536098
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:0110676	congenital myasthenic syndrome 13		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 13	PMID:21310273|PMID:25741868|PMID:28492532
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:0110679	congenital myasthenic syndrome 4C		ISO	RGD:1353383	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	PMID:23794683|PMID:25741868|PMID:28464723|PMID:28492532|PMID:29054425|PMID:32403337|PMID:32528171
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1549703	D	RGD:9068941	20200609	RGD		mRNA:increased expression:gastrocnemius	PMID:16555472|REF_RGD_ID:1624365
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:1324	lung cancer		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:1909	melanoma		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:2018	hyperinsulinism		ISO	RGD:1549703	D	RGD:9068941	20200609	RGD		mRNA:increased expression:gastrocnemius	PMID:16555472|REF_RGD_ID:1624365
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:1353383	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome	PMID:21310273|PMID:23488891|PMID:23794683|PMID:24033266|PMID:25741868|PMID:25765662|PMID:28492532|PMID:28712002|PMID:29054425
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:423	myopathy		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:23794683|PMID:25741868|PMID:28464723|PMID:28492532|PMID:29054425|PMID:32403337|PMID:32528171
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:630	genetic disease		ISO	RGD:1353383	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1353383	D	RGD:9068941	20200609	RGD			PMID:9519709|REF_RGD_ID:2313353
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1549703	D	RGD:9068941	20200609	RGD		protein:decreased expression:epididymal fat pad, liver, skeletal muscle	PMID:7589852|REF_RGD_ID:2313355
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1353383	D	RGD:9068941	20200609	RGD			PMID:11118009|REF_RGD_ID:1625423
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1353383	D	RGD:9068941	20200609	RGD			PMID:11118009|REF_RGD_ID:1625423
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1353383	D	RGD:9068941	20200609	RGD			PMID:17574229|REF_RGD_ID:2313352
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:9970	obesity		ISO	RGD:1353383	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
8793608	Gfpt1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:9970	obesity		ISO	RGD:1353383	D	RGD:9068941	20200609	RGD			PMID:11118009|REF_RGD_ID:1625423
8793634	Tsc1	TSC complex subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736947	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:17304050|PMID:18414213|PMID:21309039|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9242607
8793634	Tsc1	TSC complex subunit 1	gene	DOID:0050486	exanthem		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skin rash	PMID:25741868
8793634	Tsc1	TSC complex subunit 1	gene	DOID:0050562	West syndrome		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868|PMID:28492532
8793634	Tsc1	TSC complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8793634	Tsc1	TSC complex subunit 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:733994	D	RGD:9068941	20260618	MouseDO			
8793634	Tsc1	TSC complex subunit 1	gene	DOID:0060564	spinal disease		ISO	RGD:733994	D	RGD:9068941	20220825	MouseDO			
8793634	Tsc1	TSC complex subunit 1	gene	DOID:0060648	anterior segment dysgenesis		ISO	RGD:733994	D	RGD:9068941	20220825	MouseDO			
8793634	Tsc1	TSC complex subunit 1	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:736947	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Autosomal dominant epilepsy	
8793634	Tsc1	TSC complex subunit 1	gene	DOID:0080324	tuberous sclerosis 1		ISO	RGD:736947	D	RGD:7240710	20180130	OMIM			
8793634	Tsc1	TSC complex subunit 1	gene	DOID:0080324	tuberous sclerosis 1		ISO	RGD:736947	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tuberous sclerosis 1	PMID:00224510|PMID:1|PMID:10205261|PMID:10227394|PMID:10330349|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10533069|PMID:10570911|PMID:10607950|PMID:10942116|PMID:11112665|PMID:11281455|PMID:12015165|PMID:12040899|PMID:12111193|PMID:12112044|PMID:14597398|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15595939|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16225402|PMID:16554133|PMID:16981987|PMID:17287951|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18801034|PMID:18830229|PMID:19254590|PMID:19419980|PMID:19747374|PMID:19763152|PMID:19789314|PMID:19918125|PMID:20082901|PMID:20165957|PMID:20307669|PMID:20399389|PMID:20547222|PMID:20633017|PMID:20877415|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22406018|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22867869|PMID:22903760|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23647917|PMID:23728315|PMID:23857276|PMID:24033266|PMID:24271014|PMID:24633152|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25117416|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25640679|PMID:25722345|PMID:25741868|PMID:25782670|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26493680|PMID:26540169|PMID:26580448|PMID:26786560|PMID:27061015|PMID:27153395|PMID:27174333|PMID:27229674|PMID:27406250|PMID:27425891|PMID:27494029|PMID:27600092|PMID:27859028|PMID:28065512|PMID:28087349|PMID:28250423|PMID:28288225|PMID:28492532|PMID:28623545|PMID:28762286|PMID:28968464|PMID:29052576|PMID:29221145|PMID:29261847|PMID:29286531|PMID:29344138|PMID:29432982|PMID:29458892|PMID:29476190|PMID:29619247|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29909963|PMID:29932062|PMID:30076350|PMID:30093976|PMID:30122538|PMID:30182498|PMID:30476936|PMID:30548481|PMID:30794603|PMID:30842500|PMID:31054281|PMID:31377847|PMID:31484976|PMID:31525612|PMID:31586081|PMID:31664448|PMID:31832524|PMID:31855466|PMID:31856217|PMID:31927531|PMID:32005694|PMID:32091409|PMID:32203225|PMID:32211034|PMID:32313033|PMID:32368696|PMID:32472539|PMID:32555378|PMID:32647919|PMID:32655475|PMID:32917966|PMID:33057194|PMID:33071758|PMID:33181865|PMID:33528079|PMID:33532864|PMID:33679864|PMID:34008892|PMID:34033253|PMID:34252879|PMID:34403804|PMID:34573383|PMID:34799483|PMID:34901059|PMID:35253369|PMID:35571021|PMID:35870981|PMID:35918040|PMID:36115585|PMID:36232477|PMID:37149759|PMID:37264783|PMID:37329172|PMID:37356622|PMID:37937776|PMID:38971859|PMID:39110368|PMID:39352229|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605
8793634	Tsc1	TSC complex subunit 1	gene	DOID:0080324	tuberous sclerosis 1	treatment	ISO	RGD:736947	D	RGD:9068941	20200609	RGD			PMID:26019056|REF_RGD_ID:11570507
8793634	Tsc1	TSC complex subunit 1	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:736947	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:10227394|PMID:10570911|PMID:17304050|PMID:23341583|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28968464
8793634	Tsc1	TSC complex subunit 1	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:733994	D	RGD:9068941	20220825	MouseDO		OMIM:263200	
8793634	Tsc1	TSC complex subunit 1	gene	DOID:0111365	benign familial hematuria		ISO	RGD:736947	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microscopic hematuria	PMID:19789314|PMID:21309039|PMID:23401075|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532
8793634	Tsc1	TSC complex subunit 1	gene	DOID:10126	keratoconus		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Keratoconus	PMID:25741868|PMID:28492532
8793634	Tsc1	TSC complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8793634	Tsc1	TSC complex subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8793634	Tsc1	TSC complex subunit 1	gene	DOID:1074	kidney failure		ISO	RGD:736947	D	RGD:8554872	20250304	ClinVar		ClinVar Annotator: match by term: Renal failure	PMID:10227394|PMID:10570911|PMID:15798777|PMID:17304050|PMID:23341583|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28968464
8793634	Tsc1	TSC complex subunit 1	gene	DOID:1074	kidney failure		ISO	RGD:736947	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Kidney failure | ClinVar Annotator: match by term: Renal failure	PMID:10227394|PMID:10570911|PMID:17304050|PMID:19789314|PMID:21309039|PMID:23341583|PMID:23401075|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28968464
8793634	Tsc1	TSC complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736947	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:10227394|PMID:10363127|PMID:10533067|PMID:14633685|PMID:16114042|PMID:16199547|PMID:16981987|PMID:17304050|PMID:18830229|PMID:20547222|PMID:22707517|PMID:23728315|PMID:24033266|PMID:24271014|PMID:24633152|PMID:25741868|PMID:25782670|PMID:26231267|PMID:26467025|PMID:27061015|PMID:27174333|PMID:27425891|PMID:27494029|PMID:28492532|PMID:29221145|PMID:29758562|PMID:32211034|PMID:32555378|PMID:32917966|PMID:37329172|PMID:9242607
8793634	Tsc1	TSC complex subunit 1	gene	DOID:11111	hydronephrosis		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
8793634	Tsc1	TSC complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8793634	Tsc1	TSC complex subunit 1	gene	DOID:11832	visual epilepsy		ISO	RGD:736947	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:28215400
8793634	Tsc1	TSC complex subunit 1	gene	DOID:12849	autistic disorder		ISO	RGD:736947	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18067135
8793634	Tsc1	TSC complex subunit 1	gene	DOID:13189	gout		ISO	RGD:736947	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gout	PMID:19789314|PMID:21309039|PMID:23401075|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532
8793634	Tsc1	TSC complex subunit 1	gene	DOID:13515	tuberous sclerosis		ISO	RGD:736947	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome	PMID:10090883|PMID:10205261|PMID:10227394|PMID:10330349|PMID:10340649|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10533069|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11112665|PMID:11208653|PMID:11271387|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12040899|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15236319|PMID:15595939|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18801034|PMID:18830229|PMID:18854862|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19419980|PMID:19747374|PMID:19789314|PMID:19918125|PMID:20165957|PMID:20185476|PMID:20399389|PMID:20498439|PMID:20547222|PMID:20633017|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22867869|PMID:22903760|PMID:22923433|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25117416|PMID:25326635|PMID:25498131|PMID:25525159|PMID:25684150|PMID:25722345|PMID:25741868|PMID:25900779|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26493680|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26786560|PMID:27061015|PMID:27153395|PMID:27229674|PMID:27406250|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:27859028|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28291513|PMID:28492532|PMID:28518168|PMID:28614114|PMID:28754097|PMID:28968464|PMID:29101226|PMID:29127155|PMID:29196670|PMID:29221145|PMID:29261847|PMID:29286531|PMID:29344138|PMID:29432982|PMID:29458892|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29941307|PMID:29960980|PMID:30036593|PMID:30076350|PMID:30548481|PMID:30581017|PMID:30794603|PMID:30842500|PMID:31019026|PMID:31054281|PMID:31377847|PMID:31525612|PMID:31564432|PMID:31586081|PMID:31664448|PMID:31855466|PMID:31911633|PMID:31927531|PMID:32211034|PMID:32238909|PMID:32313033|PMID:32368696|PMID:32461654|PMID:32461669|PMID:32555378|PMID:32655475|PMID:32917966|PMID:32939031|PMID:33071758|PMID:33486073|PMID:33528079|PMID:34403804|PMID:34573383|PMID:34598035|PMID:34799483|PMID:34901059|PMID:35710456|PMID:35918040|PMID:36232477|PMID:37149759|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605
8793634	Tsc1	TSC complex subunit 1	gene	DOID:13515	tuberous sclerosis		ISO	RGD:736947	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adenoma sebaceum | ClinVar Annotator: match by term: TSC | ClinVar Annotator: match by term: Tuberous sclerosis | ClinVar Annotator: match by term: Tuberous sclerosis syndrome | ClinVar Annotator: match by term: tuberous sclerosis	PMID:00224510|PMID:1|PMID:10090883|PMID:10205261|PMID:10227394|PMID:10340649|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10533069|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11112665|PMID:11271387|PMID:12015165|PMID:12040899|PMID:12111193|PMID:12112044|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15595939|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18414213|PMID:18772611|PMID:18801034|PMID:18830229|PMID:19254590|PMID:19419980|PMID:19747374|PMID:19789314|PMID:19918125|PMID:20165957|PMID:20185476|PMID:20399389|PMID:20498439|PMID:20547222|PMID:20633017|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22867869|PMID:22903760|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25117416|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25722345|PMID:25741868|PMID:25782670|PMID:25927202|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26540169|PMID:26580448|PMID:26786560|PMID:27061015|PMID:27153395|PMID:27229674|PMID:27406250|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:27859028|PMID:28065512|PMID:28087349|PMID:28250423|PMID:28492532|PMID:28614114|PMID:28754097|PMID:28968464|PMID:29101226|PMID:29127155|PMID:29196670|PMID:29221145|PMID:29261847|PMID:29286531|PMID:29344138|PMID:29432982|PMID:29458892|PMID:29476190|PMID:29500070|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29941307|PMID:29960980|PMID:30036593|PMID:30076350|PMID:30122538|PMID:30476936|PMID:30548481|PMID:30794603|PMID:30842500|PMID:31019026|PMID:31054281|PMID:31377847|PMID:31525612|PMID:31564432|PMID:31586081|PMID:31664448|PMID:31855466|PMID:31927531|PMID:32211034|PMID:32313033|PMID:32368696|PMID:32461669|PMID:32555378|PMID:32917966|PMID:32939031|PMID:33071758|PMID:34403804|PMID:34573383|PMID:34799483|PMID:34901059|PMID:35253369|PMID:35918040|PMID:36232477|PMID:37149759|PMID:37264783|PMID:37937776|PMID:39110368|PMID:39352229|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605
8793634	Tsc1	TSC complex subunit 1	gene	DOID:13515	tuberous sclerosis	susceptibility	ISO	RGD:736947	D	RGD:9068941	20200609	RGD		DNA:nonsense mutations, deletion: :multiple	PMID:9242607|REF_RGD_ID:1624196
8793634	Tsc1	TSC complex subunit 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:736947	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:10227394|PMID:10533067|PMID:10607950|PMID:17304050|PMID:25741868|PMID:28492532|PMID:35101336|PMID:37149759
8793634	Tsc1	TSC complex subunit 1	gene	DOID:1561	cognitive disorder		ISO	RGD:736947	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18067135
8793634	Tsc1	TSC complex subunit 1	gene	DOID:1612	breast cancer		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:25741868|PMID:26467025|PMID:28492532
8793634	Tsc1	TSC complex subunit 1	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:736947	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:breast	PMID:15951164|REF_RGD_ID:11568707
8793634	Tsc1	TSC complex subunit 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:736947	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18538015
8793634	Tsc1	TSC complex subunit 1	gene	DOID:1826	epilepsy		ISO	RGD:736947	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:10227394|PMID:10363127|PMID:17304050|PMID:21520333|PMID:23389244|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29286531|PMID:32211034|PMID:35253369|PMID:9924605
8793634	Tsc1	TSC complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8793634	Tsc1	TSC complex subunit 1	gene	DOID:2234	focal epilepsy		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:28492532
8793634	Tsc1	TSC complex subunit 1	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	
8793634	Tsc1	TSC complex subunit 1	gene	DOID:2394	ovarian cancer		ISO	RGD:736947	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532|PMID:32211034
8793634	Tsc1	TSC complex subunit 1	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:25741868
8793634	Tsc1	TSC complex subunit 1	gene	DOID:2975	cystic kidney disease		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868
8793634	Tsc1	TSC complex subunit 1	gene	DOID:3021	acute kidney failure		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute kidney injury	PMID:25741868
8793634	Tsc1	TSC complex subunit 1	gene	DOID:3070	high grade glioma		ISO	RGD:736947	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Astrocytoma	PMID:25741868
8793634	Tsc1	TSC complex subunit 1	gene	DOID:3275	thymoma		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8793634	Tsc1	TSC complex subunit 1	gene	DOID:3319	lymphangioleiomyomatosis		ISO	RGD:736947	D	RGD:7240710	20180130	OMIM			
8793634	Tsc1	TSC complex subunit 1	gene	DOID:3319	lymphangioleiomyomatosis		ISO	RGD:736947	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LAM | ClinVar Annotator: match by term: LYMPHANGIOLEIOMYOMATOSIS | ClinVar Annotator: match by term: Lung lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis	PMID:10227394|PMID:10363127|PMID:10533067|PMID:11112665|PMID:11208653|PMID:12111193|PMID:16114042|PMID:16199547|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18414213|PMID:18830229|PMID:19747374|PMID:20547222|PMID:21309039|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22558107|PMID:22703879|PMID:22707517|PMID:23389244|PMID:23514105|PMID:24033266|PMID:24633152|PMID:24728327|PMID:25741868|PMID:25782670|PMID:26231267|PMID:26467025|PMID:26580448|PMID:27061015|PMID:27425891|PMID:27494029|PMID:28492532|PMID:29221145|PMID:29286531|PMID:30122538|PMID:30476936|PMID:30842500|PMID:32211034|PMID:32555378|PMID:32917966|PMID:33071758|PMID:34901059|PMID:35253369|PMID:37937776|PMID:9242607|PMID:9536098|PMID:9803264|PMID:9924605
8793634	Tsc1	TSC complex subunit 1	gene	DOID:3840	craniopharyngioma		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniopharyngioma	PMID:22161988|PMID:25741868|PMID:28492532
8793634	Tsc1	TSC complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:736947	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:17304050|PMID:18414213|PMID:21309039|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9242607
8793634	Tsc1	TSC complex subunit 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:736947	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138691
8793634	Tsc1	TSC complex subunit 1	gene	DOID:4852	pleomorphic xanthoastrocytoma		ISO	RGD:736947	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:brain	PMID:16909113|REF_RGD_ID:11570509
8793634	Tsc1	TSC complex subunit 1	gene	DOID:4905	pancreatic carcinoma		ISO	RGD:733994	D	RGD:9068941	20200609	RGD			PMID:25425965|REF_RGD_ID:11570510
8793634	Tsc1	TSC complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793634	Tsc1	TSC complex subunit 1	gene	DOID:576	proteinuria		ISO	RGD:736947	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:19789314|PMID:21309039|PMID:23401075|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532
8793634	Tsc1	TSC complex subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8793634	Tsc1	TSC complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736947	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:17304050|PMID:18414213|PMID:21309039|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9242607
8793634	Tsc1	TSC complex subunit 1	gene	DOID:769	neuroblastoma		ISO	RGD:736947	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neuroblastoma	PMID:25741868
8793634	Tsc1	TSC complex subunit 1	gene	DOID:784	chronic kidney disease		ISO	RGD:736947	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:19789314|PMID:21309039|PMID:23401075|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532
8793634	Tsc1	TSC complex subunit 1	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:736947	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17484760
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9000664	Familial Thoracic Aortic Aneurysm 4		ISO	RGD:736947	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4	PMID:10227394|PMID:10533066|PMID:16199547|PMID:17304050|PMID:20633017|PMID:25525159|PMID:25741868|PMID:26467025|PMID:28492532
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9000915	Angiofibroma		ISO	RGD:736947	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Angiofibromas	PMID:25741868
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9001031	Retrognathia		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:733994	D	RGD:9068941	20200609	RGD			PMID:11438694|REF_RGD_ID:11570508
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9002904	Primitive Neuroectodermal Tumors		ISO	RGD:736947	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primitive neuroectodermal tumor	PMID:16554133|PMID:21309039|PMID:22703879|PMID:23514105|PMID:25077650|PMID:25498131|PMID:25722345|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532|PMID:30076350|PMID:31054281
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9003122	Rhabdomyoma		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhabdomyoma	PMID:10227394|PMID:11112665|PMID:16199547|PMID:17304050|PMID:25741868|PMID:28492532
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9003507	Premature Birth		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9005077	Joint Instability		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:733994	D	RGD:9068941	20200609	RGD			PMID:19966866|REF_RGD_ID:11568678
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736947	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:17304050|PMID:18414213|PMID:21309039|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9242607
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736947	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10607950|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15798777|PMID:16114042|PMID:16554133|PMID:16981987|PMID:17304050|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19918125|PMID:20165957|PMID:20547222|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22791573|PMID:22903760|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23514105|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25498131|PMID:25525159|PMID:25741868|PMID:25900779|PMID:26226092|PMID:26332594|PMID:26467025|PMID:26563443|PMID:26580448|PMID:26786560|PMID:27153395|PMID:27425891|PMID:27470532|PMID:27600092|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28492532|PMID:28968464|PMID:29261847|PMID:29458892|PMID:29706646|PMID:29740858|PMID:30093976|PMID:31856217|PMID:32211034|PMID:32238909|PMID:32917966|PMID:9242607|PMID:9328481|PMID:9803264|PMID:9863590|PMID:9924605
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736947	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15769473|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19918125|PMID:20165957|PMID:20547222|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22903760|PMID:22923433|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25741868|PMID:25900779|PMID:26226092|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26615199|PMID:26786560|PMID:26934580|PMID:27061015|PMID:27153395|PMID:27229674|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28492532|PMID:28614114|PMID:28968464|PMID:29221145|PMID:29261847|PMID:29344138|PMID:29458892|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29960980|PMID:30093976|PMID:30548481|PMID:30842500|PMID:31484976|PMID:31586081|PMID:31832524|PMID:31856217|PMID:31911633|PMID:32091409|PMID:32211034|PMID:32238909|PMID:32461669|PMID:32917966|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736947	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15769473|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19918125|PMID:20165957|PMID:20547222|PMID:20633017|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22923433|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:23999528|PMID:24033266|PMID:24633152|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25722345|PMID:25741868|PMID:25900779|PMID:26226092|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26615199|PMID:26786560|PMID:26934580|PMID:27061015|PMID:27153395|PMID:27229674|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:27854218|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28288225|PMID:28492532|PMID:28614114|PMID:28968464|PMID:29221145|PMID:29261847|PMID:29344138|PMID:29458892|PMID:29619247|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29960980|PMID:30093976|PMID:30548481|PMID:30842500|PMID:31484976|PMID:31525612|PMID:31586081|PMID:31664448|PMID:31832524|PMID:31856217|PMID:31911633|PMID:32091409|PMID:32211034|PMID:32238909|PMID:32313033|PMID:32461669|PMID:32917966|PMID:34799483|PMID:35918040|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736947	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12040899|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15769473|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18801034|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19918125|PMID:20165957|PMID:20547222|PMID:20633017|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22923433|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:23999528|PMID:24033266|PMID:24633152|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25722345|PMID:25741868|PMID:25900779|PMID:26226092|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26615199|PMID:26786560|PMID:26934580|PMID:27061015|PMID:27153395|PMID:27229674|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:27854218|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28288225|PMID:28492532|PMID:28614114|PMID:28968464|PMID:29221145|PMID:29261847|PMID:29344138|PMID:29458892|PMID:29619247|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29960980|PMID:30093976|PMID:30548481|PMID:30842500|PMID:31484976|PMID:31525612|PMID:31586081|PMID:31664448|PMID:31832524|PMID:31856217|PMID:31911633|PMID:32091409|PMID:32203225|PMID:32211034|PMID:32238909|PMID:32313033|PMID:32461669|PMID:32917966|PMID:34799483|PMID:35918040|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736947	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12040899|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15769473|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18801034|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19789314|PMID:19918125|PMID:20165957|PMID:20547222|PMID:20633017|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22923433|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25722345|PMID:25741868|PMID:25741909|PMID:25900779|PMID:26226092|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26615199|PMID:26786560|PMID:26934580|PMID:27061015|PMID:27153395|PMID:27229674|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28288225|PMID:28492532|PMID:28614114|PMID:28968464|PMID:29221145|PMID:29261847|PMID:29344138|PMID:29458892|PMID:29500070|PMID:29619247|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29960980|PMID:30076350|PMID:30093976|PMID:30548481|PMID:30794603|PMID:30842500|PMID:31019026|PMID:31054281|PMID:31484976|PMID:31525612|PMID:31564432|PMID:31586081|PMID:31664448|PMID:31832524|PMID:31856217|PMID:31911633|PMID:31927531|PMID:32091409|PMID:32203225|PMID:32211034|PMID:32238909|PMID:32313033|PMID:32461669|PMID:32917966|PMID:33181865|PMID:34403804|PMID:34573383|PMID:34799483|PMID:35918040|PMID:36232477|PMID:37149759|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736947	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10090883|PMID:10227394|PMID:10330349|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10533069|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12040899|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15769473|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18801034|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19789314|PMID:19918125|PMID:20165957|PMID:20547222|PMID:20633017|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22903760|PMID:22923433|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25722345|PMID:25741868|PMID:25900779|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26493680|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26615199|PMID:26786560|PMID:26934580|PMID:27061015|PMID:27153395|PMID:27229674|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28288225|PMID:28492532|PMID:28518168|PMID:28590052|PMID:28614114|PMID:28754097|PMID:28968464|PMID:29221145|PMID:29261847|PMID:29344138|PMID:29458892|PMID:29476190|PMID:29500070|PMID:29619247|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29758562|PMID:29932062|PMID:29960980|PMID:30076350|PMID:30093976|PMID:30548481|PMID:30794603|PMID:30842500|PMID:31019026|PMID:31054281|PMID:31484976|PMID:31525612|PMID:31564432|PMID:31586081|PMID:31664448|PMID:31832524|PMID:31856217|PMID:31911633|PMID:31927531|PMID:32091409|PMID:32203225|PMID:32211034|PMID:32238909|PMID:32313033|PMID:32461654|PMID:32461669|PMID:32555378|PMID:32917966|PMID:32939031|PMID:33071758|PMID:33181865|PMID:33486073|PMID:33528079|PMID:34403804|PMID:34573383|PMID:34799483|PMID:35571021|PMID:35918040|PMID:36115585|PMID:36232477|PMID:37149759|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736947	D	RGD:8554872	20250218	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10090883|PMID:10227394|PMID:10330349|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10533069|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12040899|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15236319|PMID:15769473|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18801034|PMID:18830229|PMID:18854862|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19789314|PMID:19918125|PMID:20165957|PMID:20547222|PMID:20633017|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22903760|PMID:22923433|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:24033266|PMID:24631838|PMID:24633152|PMID:24690944|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25722345|PMID:25741868|PMID:25900779|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26493680|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26615199|PMID:26786560|PMID:26934580|PMID:27061015|PMID:27153395|PMID:27229674|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28288225|PMID:28492532|PMID:28518168|PMID:28614114|PMID:28754097|PMID:28968464|PMID:29221145|PMID:29261847|PMID:29344138|PMID:29458892|PMID:29476190|PMID:29500070|PMID:29617669|PMID:29619247|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29758562|PMID:29932062|PMID:29960980|PMID:30076350|PMID:30093976|PMID:30548481|PMID:30794603|PMID:30842500|PMID:31019026|PMID:31054281|PMID:31133068|PMID:31484976|PMID:31525612|PMID:31555481|PMID:31564432|PMID:31586081|PMID:31664448|PMID:31832524|PMID:31856217|PMID:31911633|PMID:31927531|PMID:32091409|PMID:32203225|PMID:32211034|PMID:32238909|PMID:32313033|PMID:32461654|PMID:32461669|PMID:32555378|PMID:32655475|PMID:32917966|PMID:32939031|PMID:33071758|PMID:33181865|PMID:33486073|PMID:33528079|PMID:34403804|PMID:34573383|PMID:34598035|PMID:34799483|PMID:34901059|PMID:35571021|PMID:35918040|PMID:35982159|PMID:35982160|PMID:36115585|PMID:36232477|PMID:36315513|PMID:37149759|PMID:38971859|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736947	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10090883|PMID:10227394|PMID:10330349|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10533069|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12040899|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15236319|PMID:15769473|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18801034|PMID:18830229|PMID:18854862|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19789314|PMID:19918125|PMID:20165957|PMID:20547222|PMID:20633017|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22903760|PMID:22923433|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:24033266|PMID:24631838|PMID:24633152|PMID:24690944|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25722345|PMID:25741868|PMID:25900779|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26493680|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26615199|PMID:26786560|PMID:26934580|PMID:27061015|PMID:27153395|PMID:27229674|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28288225|PMID:28492532|PMID:28518168|PMID:28614114|PMID:28754097|PMID:28968464|PMID:29221145|PMID:29261847|PMID:29344138|PMID:29458892|PMID:29476190|PMID:29500070|PMID:29617669|PMID:29619247|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29758562|PMID:29926239|PMID:29932062|PMID:29960980|PMID:30076350|PMID:30093976|PMID:30548481|PMID:30794603|PMID:30842500|PMID:31019026|PMID:31054281|PMID:31133068|PMID:31484976|PMID:31525612|PMID:31555481|PMID:31564432|PMID:31586081|PMID:31664448|PMID:31832524|PMID:31856217|PMID:31911633|PMID:31927531|PMID:32091409|PMID:32203225|PMID:32211034|PMID:32238909|PMID:32313033|PMID:32461654|PMID:32461669|PMID:32555378|PMID:32655475|PMID:32917966|PMID:32939031|PMID:33071758|PMID:33181865|PMID:33486073|PMID:33528079|PMID:34403804|PMID:34573383|PMID:34598035|PMID:34799483|PMID:34901059|PMID:34992632|PMID:35571021|PMID:35918040|PMID:35982159|PMID:35982160|PMID:36115585|PMID:36232477|PMID:36315513|PMID:37149759|PMID:38971859|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736947	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10090883|PMID:10227394|PMID:10330349|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10533069|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12040899|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15236319|PMID:15769473|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18801034|PMID:18830229|PMID:18854862|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19789314|PMID:19918125|PMID:20165957|PMID:20547222|PMID:20633017|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22903760|PMID:22923433|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:24033266|PMID:24631838|PMID:24633152|PMID:24690944|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25722345|PMID:25741868|PMID:25900779|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26493680|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26615199|PMID:26786560|PMID:26934580|PMID:27061015|PMID:27153395|PMID:27229674|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28288225|PMID:28492532|PMID:28518168|PMID:28614114|PMID:28754097|PMID:28968464|PMID:29221145|PMID:29261847|PMID:29344138|PMID:29458892|PMID:29476190|PMID:29500070|PMID:29617669|PMID:29619247|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29758562|PMID:29926239|PMID:29932062|PMID:29960980|PMID:30076350|PMID:30093976|PMID:30122538|PMID:30548481|PMID:30794603|PMID:30842500|PMID:31019026|PMID:31054281|PMID:31133068|PMID:31484976|PMID:31525612|PMID:31555481|PMID:31564432|PMID:31586081|PMID:31664448|PMID:31832524|PMID:31856217|PMID:31911633|PMID:31927531|PMID:32091409|PMID:32203225|PMID:32211034|PMID:32238909|PMID:32313033|PMID:32461654|PMID:32461669|PMID:32472539|PMID:32555378|PMID:32655475|PMID:32917966|PMID:32939031|PMID:33071758|PMID:33181865|PMID:33486073|PMID:33528079|PMID:34252879|PMID:34403804|PMID:34573383|PMID:34598035|PMID:34799483|PMID:34901059|PMID:34992632|PMID:35571021|PMID:35918040|PMID:35982159|PMID:35982160|PMID:36115585|PMID:36232477|PMID:36315513|PMID:37149759|PMID:38971859|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533067|PMID:10570911|PMID:10607950|PMID:11208653|PMID:11329144|PMID:12015165|PMID:12040899|PMID:12111193|PMID:12853839|PMID:14633685|PMID:14756965|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18414213|PMID:18801034|PMID:18830229|PMID:19747374|PMID:20165957|PMID:20498439|PMID:20547222|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21811971|PMID:22161988|PMID:22558107|PMID:22703879|PMID:22867869|PMID:22974335|PMID:23341583|PMID:23514105|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24690944|PMID:24728327|PMID:25401301|PMID:25741868|PMID:26467025|PMID:26540169|PMID:26580448|PMID:26786560|PMID:27061015|PMID:27229674|PMID:27993330|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28492532|PMID:28968464|PMID:29261847|PMID:29344138|PMID:29619247|PMID:29684080|PMID:29926239|PMID:29960980|PMID:30122538|PMID:30548481|PMID:31377847|PMID:31586081|PMID:31856217|PMID:32203225|PMID:32211034|PMID:32368696|PMID:32461669|PMID:32472539|PMID:32555378|PMID:32917966|PMID:33071758|PMID:34403804|PMID:35571021|PMID:37149759|PMID:37264783|PMID:38149783|PMID:38217295|PMID:38971859|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9863590|PMID:9924605
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736947	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10227394|PMID:10363127|PMID:10533067|PMID:10570911|PMID:10607950|PMID:12040899|PMID:12111193|PMID:15798777|PMID:16199547|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18414213|PMID:18801034|PMID:18830229|PMID:19747374|PMID:20165957|PMID:20498439|PMID:20547222|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21811971|PMID:22161988|PMID:22558107|PMID:22703879|PMID:22867869|PMID:22974335|PMID:23341583|PMID:23514105|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24690944|PMID:24728327|PMID:25401301|PMID:25741868|PMID:26467025|PMID:26540169|PMID:26580448|PMID:26786560|PMID:27061015|PMID:27229674|PMID:27993330|PMID:28087349|PMID:28250423|PMID:28492532|PMID:28968464|PMID:29261847|PMID:29344138|PMID:29619247|PMID:29684080|PMID:29926239|PMID:29960980|PMID:30122538|PMID:30548481|PMID:31377847|PMID:31586081|PMID:31856217|PMID:32203225|PMID:32211034|PMID:32368696|PMID:32461669|PMID:32472539|PMID:32555378|PMID:32917966|PMID:33071758|PMID:34403804|PMID:35571021|PMID:37149759|PMID:37264783|PMID:38149783|PMID:38217295|PMID:38971859|PMID:9242607|PMID:9536098
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736947	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:00224510|PMID:1|PMID:10227394|PMID:10363127|PMID:10533067|PMID:10570911|PMID:10607950|PMID:12015165|PMID:12040899|PMID:12111193|PMID:12112044|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18414213|PMID:18801034|PMID:18830229|PMID:19254590|PMID:19747374|PMID:19789314|PMID:19918125|PMID:20165957|PMID:20498439|PMID:20547222|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22867869|PMID:22974335|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24690944|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25401301|PMID:25498131|PMID:25722345|PMID:25741868|PMID:25782670|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26540169|PMID:26580448|PMID:26786560|PMID:27061015|PMID:27153395|PMID:27229674|PMID:27425891|PMID:27494029|PMID:27600092|PMID:27993330|PMID:28087349|PMID:28250423|PMID:28492532|PMID:28968464|PMID:29221145|PMID:29261847|PMID:29344138|PMID:29458892|PMID:29619247|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29926239|PMID:29960980|PMID:30076350|PMID:30122538|PMID:30476936|PMID:30548481|PMID:30794603|PMID:30842500|PMID:31054281|PMID:31377847|PMID:31586081|PMID:31664448|PMID:31856217|PMID:31927531|PMID:32203225|PMID:32211034|PMID:32313033|PMID:32368696|PMID:32461669|PMID:32472539|PMID:32555378|PMID:32917966|PMID:33071758|PMID:34403804|PMID:34469436|PMID:34799483|PMID:34901059|PMID:35571021|PMID:37149759|PMID:37264783|PMID:37937776|PMID:38149783|PMID:38217295|PMID:38971859|PMID:39110368|PMID:39352229|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9863590|PMID:9924605
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:736947	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18538015
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:733994	D	RGD:9068941	20200609	RGD			PMID:15380067|REF_RGD_ID:1624197
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9007993	Dehydration		ISO	RGD:736947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dehydration	PMID:25741868
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9008426	Focal Cortical Dysplasia of Taylor		ISO	RGD:736947	D	RGD:7240710	20180130	OMIM			
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9008426	Focal Cortical Dysplasia of Taylor		ISO	RGD:736947	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CORTICAL DYSPLASIA OF TAYLOR | ClinVar Annotator: match by term: Cortical dysplasia of Taylor | ClinVar Annotator: match by term: FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC | ClinVar Annotator: match by term: Focal cortical dysplasia type II	PMID:10227394|PMID:10363127|PMID:10533067|PMID:12111193|PMID:12112044|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18414213|PMID:18830229|PMID:19747374|PMID:19918125|PMID:20165957|PMID:20547222|PMID:21309039|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22558107|PMID:22703879|PMID:22707517|PMID:23389244|PMID:23514105|PMID:24033266|PMID:24633152|PMID:24728327|PMID:25077650|PMID:25498131|PMID:25722345|PMID:25741868|PMID:25782670|PMID:26231267|PMID:26467025|PMID:27061015|PMID:27153395|PMID:27425891|PMID:27494029|PMID:28215400|PMID:28492532|PMID:29221145|PMID:29286531|PMID:29684080|PMID:29706646|PMID:30076350|PMID:30122538|PMID:30476936|PMID:30842500|PMID:31054281|PMID:31664448|PMID:31856217|PMID:32211034|PMID:32368696|PMID:32555378|PMID:32917966|PMID:33071758|PMID:34799483|PMID:34901059|PMID:35253369|PMID:37937776|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9863590|PMID:9924605
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736947	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17304050|PMID:18414213|PMID:21309039|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9242607
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9009116	Urinary Bladder Neoplasm		ISO	RGD:736947	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Urinary Bladder Neoplasms	PMID:10227394|PMID:10363127|PMID:10533067|PMID:14633685|PMID:16114042|PMID:16981987|PMID:17304050|PMID:18830229|PMID:20547222|PMID:22707517|PMID:23728315|PMID:24033266|PMID:24271014|PMID:24633152|PMID:25741868|PMID:25782670|PMID:26231267|PMID:26467025|PMID:27061015|PMID:27174333|PMID:27425891|PMID:27494029|PMID:28492532|PMID:29221145|PMID:32555378|PMID:32917966|PMID:9242607
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736947	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8793634	Tsc1	TSC complex subunit 1	gene	DOID:936	brain disease		ISO	RGD:736947	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21062901
8793634	Tsc1	TSC complex subunit 1	gene	DOID:9970	obesity		ISO	RGD:620124	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:25807795|REF_RGD_ID:11570513
8793681	Dph6	diphthamine biosynthesis 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8793681	Dph6	diphthamine biosynthesis 6	gene	DOID:1115	sarcoma		ISO	RGD:1603188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8793681	Dph6	diphthamine biosynthesis 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8793681	Dph6	diphthamine biosynthesis 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793681	Dph6	diphthamine biosynthesis 6	gene	DOID:6039	uveal melanoma		ISO	RGD:1603188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8793681	Dph6	diphthamine biosynthesis 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8793681	Dph6	diphthamine biosynthesis 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:0050625	biliary tract benign neoplasm	disease_progression	ISO	RGD:737024	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18475301|REF_RGD_ID:2324916
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:10126	keratoconus		ISO	RGD:737024	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Keratoconus	
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:10140	dry eye syndrome		ISO	RGD:62293	D	RGD:9068941	20200609	RGD			PMID:21283525|PMID:23272068|REF_RGD_ID:7364730|REF_RGD_ID:7364762
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:10140	dry eye syndrome		ISO	RGD:62293	D	RGD:9068941	20220825	MouseDO			
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:10140	dry eye syndrome		ISO	RGD:737024	D	RGD:9068941	20200609	RGD			PMID:23538614|REF_RGD_ID:7349402
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:10140	dry eye syndrome	treatment	ISO	RGD:62001	D	RGD:9068941	20200609	RGD		protein:decreased expression:cornea	PMID:19415319|REF_RGD_ID:2324954
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:10140	dry eye syndrome	treatment	ISO	RGD:737024	D	RGD:9068941	20200609	RGD		associated with Graft vs Host Disease	PMID:17982500|REF_RGD_ID:7364737
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:10754	otitis media		ISO	RGD:1616427	D	RGD:9068941	20200609	RGD		associated with CHARGE Syndrome	PMID:22539951|REF_RGD_ID:7349405
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:10754	otitis media		ISO	RGD:62001	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ear	PMID:11425202|REF_RGD_ID:2324973
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:10808	gastric ulcer		ISO	RGD:62001	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:stomach	PMID:11956390|REF_RGD_ID:2324968
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:10808	gastric ulcer	treatment	ISO	RGD:62001	D	RGD:9068941	20200609	RGD			PMID:16240224|REF_RGD_ID:7364759
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:1176	bronchial disease	treatment	ISO	RGD:62001	D	RGD:9068941	20260730	RGD			PMID:36152413|REF_RGD_ID:736802360
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:62293	D	RGD:9068941	20200609	RGD		associated with Respiratory Hypersensitivity; protein:increased expression:lung	PMID:15130904|REF_RGD_ID:5131205
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:737024	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:conjunctival epithelial cell	PMID:18184611|REF_RGD_ID:7364736
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:12895	keratoconjunctivitis sicca		ISO	RGD:731951	D	RGD:9068941	20200609	RGD			PMID:14507865|REF_RGD_ID:7349377
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:13550	angle-closure glaucoma		ISO	RGD:737024	D	RGD:9068941	20200609	RGD		associated with Cataract;protein:decreased expression:tear	PMID:21139981|REF_RGD_ID:7364742
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:1485	cystic fibrosis		ISO	RGD:737024	D	RGD:9068941	20200609	RGD			PMID:17255563|REF_RGD_ID:5131191
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:1679	cystitis		ISO	RGD:737024	D	RGD:9068941	20200609	RGD			PMID:17659847|REF_RGD_ID:7349345
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:1686	glaucoma		ISO	RGD:737024	D	RGD:9068941	20200609	RGD		protein:increased expression:conjunctival epithelial cell	PMID:16809382|REF_RGD_ID:7364743
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:737024	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:1793	pancreatic cancer		ISO	RGD:737024	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:14654947|REF_RGD_ID:2317984
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:1793	pancreatic cancer		ISO	RGD:737024	D	RGD:9068941	20200609	RGD		protein:increased glycosylation:serum	PMID:19377061|REF_RGD_ID:2325129
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:2841	asthma		ISO	RGD:62001	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:lung	PMID:17590487|REF_RGD_ID:2324962
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:2841	asthma		ISO	RGD:62293	D	RGD:9068941	20200609	RGD			PMID:14594655|REF_RGD_ID:7349354
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:2841	asthma		ISO	RGD:62293	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:21780541|REF_RGD_ID:7349407
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:2841	asthma		ISO	RGD:737024	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:17698377|REF_RGD_ID:5131204
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:2841	asthma	treatment	ISO	RGD:62293	D	RGD:9068941	20200609	RGD			PMID:21549818|REF_RGD_ID:7364729
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:3030	mucinous adenocarcinoma		ISO	RGD:737024	D	RGD:9068941	20200609	RGD		associated with pancreatic diseases;protein:decreased expression:pancreas	PMID:19954814|REF_RGD_ID:2324889
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:3030	mucinous adenocarcinoma		ISO	RGD:737024	D	RGD:9068941	20200609	RGD		associated with pancreatic neoplasms;protein:increased expression:pancreas	PMID:17708554|REF_RGD_ID:2324887
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:3030	mucinous adenocarcinoma	disease_progression	ISO	RGD:737024	D	RGD:9068941	20200609	RGD		associated with pancreatic neoplasms; mRNA:increased expression:pancreas	PMID:10227724|REF_RGD_ID:2324907
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:737024	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:17637221|REF_RGD_ID:4145655
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:737024	D	RGD:9068941	20200609	RGD		protein:increased expression:bronchi	PMID:19723147|REF_RGD_ID:5131190
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:3083	chronic obstructive pulmonary disease	treatment	ISO	RGD:62001	D	RGD:9068941	20200609	RGD			PMID:22282955|REF_RGD_ID:7349406
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:737024	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas	PMID:7657125|REF_RGD_ID:2324986
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:3587	pancreatic ductal carcinoma	disease_progression	ISO	RGD:737024	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas	PMID:10227724|REF_RGD_ID:2324907
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:62001	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:14680076|REF_RGD_ID:5131207
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:62293	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:19154443|REF_RGD_ID:2314537
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:737024	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:4481	allergic rhinitis		ISO	RGD:62001	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:nasal cavity epithelium	PMID:22972875|REF_RGD_ID:7364746
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:4483	rhinitis		ISO	RGD:62001	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nose	PMID:20696593|REF_RGD_ID:4145454
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:4483	rhinitis		ISO	RGD:737024	D	RGD:9068941	20200609	RGD			PMID:15715404|REF_RGD_ID:7364740
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:4608	common bile duct neoplasm		ISO	RGD:737024	D	RGD:9068941	20200609	RGD		protein:altered expression:pancreas	PMID:8143972|REF_RGD_ID:2324890
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737024	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bile duct	PMID:11680592|REF_RGD_ID:2324948
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:737024	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:14508831|REF_RGD_ID:2324990
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:76	stomach disease	treatment	ISO	RGD:62001	D	RGD:9068941	20200609	RGD			PMID:23200466|REF_RGD_ID:7364745
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:8463	corneal ulcer		ISO	RGD:737024	D	RGD:9068941	20200609	RGD		associated with Hypersensitivity;mRNA:decreased expression:eye	PMID:16251127|REF_RGD_ID:7364739
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:737024	D	RGD:9068941	20200609	RGD		protein:decreased expression:gallbladder	PMID:15260848|REF_RGD_ID:2324651
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:737024	D	RGD:9068941	20200609	RGD		associated with chloangiocarcinoma;protein:increased expression:bile duct	PMID:16842244|REF_RGD_ID:2325168
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:9000156	Metaplasia		ISO	RGD:737024	D	RGD:9068941	20200609	RGD		associated with Duodenal Diseases	PMID:12612884|REF_RGD_ID:7364761
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:737024	D	RGD:9068941	20200609	RGD		associated with chloangiocarcinoma;protein:increased expression:bile duct	PMID:16124042|REF_RGD_ID:2324987
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:9001472	Nasal Polyps		ISO	RGD:737024	D	RGD:9068941	20200609	RGD			PMID:15715404|REF_RGD_ID:7364740
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:9002992	Nematode Infections	resistance	ISO	RGD:62001	D	RGD:9068941	20200609	RGD			PMID:22269441|REF_RGD_ID:7364747
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:9002992	Nematode Infections	resistance	ISO	RGD:62293	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cecum	PMID:20138044|REF_RGD_ID:7349349
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:9003470	Picornaviridae Infections		ISO	RGD:62293	D	RGD:9068941	20200609	RGD		associated with Pulmonary Disease, Chronic Obstructive	PMID:19748999|REF_RGD_ID:4145626
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:9003470	Picornaviridae Infections	severity	ISO	RGD:737024	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:20525715|REF_RGD_ID:5131431
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:9005941	Rhinosinusitis	treatment	ISO	RGD:62001	D	RGD:9068941	20200609	RGD			PMID:19389874|PMID:23131200|REF_RGD_ID:7349403|REF_RGD_ID:7364734
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:9007425	Diffuse Panbronchiolitis		ISO	RGD:737024	D	RGD:9068941	20200609	RGD		protein:decreased expression:bronchiole epithelium	PMID:15364771|REF_RGD_ID:7364741
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:9008821	Otitis Media with Effusion		ISO	RGD:1551003	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:ear	PMID:22336013|REF_RGD_ID:7364764
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:9008821	Otitis Media with Effusion		ISO	RGD:737024	D	RGD:9068941	20200609	RGD		mRNA:increased expression:middle ear	PMID:20713760|REF_RGD_ID:7364731
8793705	Muc5ac	mucin 5AC, oligomeric mucus/gel-forming	gene	DOID:9368	keratoconjunctivitis		ISO	RGD:737024	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:conjunctival epithelial cell	PMID:18782111|REF_RGD_ID:7364735
8793760	Atf6	activating transcription factor 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8793760	Atf6	activating transcription factor 6	gene	DOID:0110009	achromatopsia 7		ISO	RGD:1313517	D	RGD:7240710	20180130	OMIM			
8793760	Atf6	activating transcription factor 6	gene	DOID:0110009	achromatopsia 7		ISO	RGD:1313517	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACHROMATOPSIA 7 | ClinVar Annotator: match by term: ATF6-related condition | ClinVar Annotator: match by term: Achromatopsia 7	PMID:25741868|PMID:26029869|PMID:26063662|PMID:26070061|PMID:28028229|PMID:28492532|PMID:31237654
8793760	Atf6	activating transcription factor 6	gene	DOID:10320	asbestosis		ISO	RGD:1313517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25324550
8793760	Atf6	activating transcription factor 6	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26029869
8793760	Atf6	activating transcription factor 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8793760	Atf6	activating transcription factor 6	gene	DOID:1115	sarcoma		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8793760	Atf6	activating transcription factor 6	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:1313517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23349890
8793760	Atf6	activating transcription factor 6	gene	DOID:1324	lung cancer		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8793760	Atf6	activating transcription factor 6	gene	DOID:13399	color blindness		ISO	RGD:1313517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26029869
8793760	Atf6	activating transcription factor 6	gene	DOID:13911	achromatopsia		ISO	RGD:1313517	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Achromatopsia	PMID:16199547|PMID:24033266|PMID:26029869|PMID:26063662|PMID:26070061|PMID:28492532
8793760	Atf6	activating transcription factor 6	gene	DOID:1909	melanoma		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8793760	Atf6	activating transcription factor 6	gene	DOID:4448	macular degeneration		ISO	RGD:1313517	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	
8793760	Atf6	activating transcription factor 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8793760	Atf6	activating transcription factor 6	gene	DOID:5154	borna disease		ISO	RGD:1305471	D	RGD:9068941	20200702	RGD		protein:increased expression:cerebellum,  hippocampus	PMID:16912310|REF_RGD_ID:32733622
8793760	Atf6	activating transcription factor 6	gene	DOID:5434	scrapie		ISO	RGD:1313517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23349890
8793760	Atf6	activating transcription factor 6	gene	DOID:5679	retinal disease		ISO	RGD:1313517	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:25741868|PMID:28492532
8793760	Atf6	activating transcription factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793760	Atf6	activating transcription factor 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8793760	Atf6	activating transcription factor 6	gene	DOID:630	genetic disease		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8793760	Atf6	activating transcription factor 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8793760	Atf6	activating transcription factor 6	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313517	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532|PMID:30202406
8793760	Atf6	activating transcription factor 6	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:1313518	D	RGD:9068941	20230525	RGD			PMID:34144219|REF_RGD_ID:329812011
8793760	Atf6	activating transcription factor 6	gene	DOID:9003137	Photophobia		ISO	RGD:1313517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26029869
8793760	Atf6	activating transcription factor 6	gene	DOID:9006945	Diabetic Cardiomyopathies	ameliorates	ISO	RGD:1313518	D	RGD:9068941	20230302	RGD			PMID:36044268|REF_RGD_ID:156430337
8793760	Atf6	activating transcription factor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8793760	Atf6	activating transcription factor 6	gene	DOID:9008022	Temporomandibular Joint Osteoarthritis		ISO	RGD:1305471	D	RGD:9068941	20200709	RGD		mRNA,protein:increased expression:chondrocyte	PMID:31007149|REF_RGD_ID:34888237
8793760	Atf6	activating transcription factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8793760	Atf6	activating transcription factor 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8793760	Atf6	activating transcription factor 6	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:1313518	D	RGD:9068941	20231019	RGD			PMID:27813192|REF_RGD_ID:401842386
8793760	Atf6	activating transcription factor 6	gene	DOID:9649	congenital nystagmus		ISO	RGD:1313517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26029869
8793780	Jup	junction plakoglobin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8793780	Jup	junction plakoglobin	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:732396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532
8793780	Jup	junction plakoglobin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732396	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:16467215|PMID:19863551|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:25765472|PMID:27532257|PMID:28492532|PMID:29802319|PMID:32789579
8793780	Jup	junction plakoglobin	gene	DOID:0060480	left ventricular noncompaction		ISO	RGD:732396	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction	PMID:25741868|PMID:28492532
8793780	Jup	junction plakoglobin	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:732396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:21859740|PMID:23861362|PMID:25741868|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28831623|PMID:38254962
8793780	Jup	junction plakoglobin	gene	DOID:0080365	endometrial hyperplasia		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		protein:decreased expression:endometrium	PMID:12635138|REF_RGD_ID:2301747
8793780	Jup	junction plakoglobin	gene	DOID:0080551	Naxos disease		ISO	RGD:732396	D	RGD:7240710	20180130	OMIM			
8793780	Jup	junction plakoglobin	gene	DOID:0080551	Naxos disease		ISO	RGD:732396	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease | ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR	PMID:10902626|PMID:16199547|PMID:16467215|PMID:17576681|PMID:18672408|PMID:18937352|PMID:19067702|PMID:19863551|PMID:20031617|PMID:20130592|PMID:20152563|PMID:20525856|PMID:20857253|PMID:20864495|PMID:21320868|PMID:21606396|PMID:21668431|PMID:21859740|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24238504|PMID:24503780|PMID:24704780|PMID:24884844|PMID:25351510|PMID:25363760|PMID:25363768|PMID:25445213|PMID:25616645|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26220970|PMID:26230511|PMID:26272908|PMID:27005929|PMID:27037756|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28098346|PMID:28166811|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28798025|PMID:28831623|PMID:28855170|PMID:29247119|PMID:29334134|PMID:29517769|PMID:29606362|PMID:29619247|PMID:29892012|PMID:30206291|PMID:30453078|PMID:30775854|PMID:30847666|PMID:31275992|PMID:31402444|PMID:31737537|PMID:31983221|PMID:32212272|PMID:32233023|PMID:32268277|PMID:32746448|PMID:32880476|PMID:33500567|PMID:33673806|PMID:34011629|PMID:34026867|PMID:35581137|PMID:9536098
8793780	Jup	junction plakoglobin	gene	DOID:0080551	Naxos disease		ISO	RGD:732396	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease | ClinVar Annotator: match by term: WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES	PMID:10902626|PMID:16199547|PMID:16467215|PMID:16722579|PMID:17576681|PMID:18672408|PMID:18937352|PMID:19067702|PMID:19863551|PMID:20031617|PMID:20130592|PMID:20152563|PMID:20525856|PMID:20857253|PMID:20864495|PMID:21320868|PMID:21606396|PMID:21668431|PMID:21859740|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24238504|PMID:24503780|PMID:24704780|PMID:24884844|PMID:25351510|PMID:25363760|PMID:25363768|PMID:25445213|PMID:25616645|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26220970|PMID:26230511|PMID:26272908|PMID:27005929|PMID:27037756|PMID:27157848|PMID:27532257|PMID:27662471|PMID:27707468|PMID:27930701|PMID:28098346|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28600387|PMID:28798025|PMID:28831623|PMID:28855170|PMID:29247119|PMID:29334134|PMID:29350269|PMID:29517769|PMID:29606362|PMID:29619247|PMID:29892012|PMID:30206291|PMID:30453078|PMID:30615648|PMID:30775854|PMID:30802431|PMID:30844837|PMID:30847666|PMID:31275992|PMID:31402444|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32212272|PMID:32233023|PMID:32268277|PMID:32746448|PMID:32880476|PMID:33500567|PMID:33673806|PMID:33919104|PMID:34011629|PMID:34026867|PMID:34076677|PMID:34500006|PMID:35087879|PMID:35091851|PMID:35581137|PMID:36008935|PMID:36178741|PMID:36788754|PMID:37418234|PMID:37477868|PMID:38254962|PMID:9536098
8793780	Jup	junction plakoglobin	gene	DOID:0080551	Naxos disease		ISO	RGD:732396	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Mal de Naxos | ClinVar Annotator: match by term: NAXOS DISEASE | ClinVar Annotator: match by term: Naxos disease	PMID:10902626|PMID:16467215|PMID:17576681|PMID:19863551|PMID:20130592|PMID:20864495|PMID:21606396|PMID:21668431|PMID:21859740|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25351510|PMID:25363760|PMID:25741868|PMID:25765472|PMID:26220970|PMID:27037756|PMID:27157848|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28600387|PMID:28831623|PMID:28855170|PMID:29247119|PMID:29334134|PMID:29350269|PMID:29517769|PMID:29606362|PMID:29802319|PMID:30206291|PMID:30453078|PMID:30844837|PMID:30847666|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32212272|PMID:32233023|PMID:32789579|PMID:32880476|PMID:33919104|PMID:34076677|PMID:34500006|PMID:35091851|PMID:36008935|PMID:36178741|PMID:36788754|PMID:37198425|PMID:37418234|PMID:38254962|PMID:39180012|PMID:9536098
8793780	Jup	junction plakoglobin	gene	DOID:0110083	arrhythmogenic right ventricular dysplasia 12		ISO	RGD:732396	D	RGD:7240710	20180130	OMIM			
8793780	Jup	junction plakoglobin	gene	DOID:0110083	arrhythmogenic right ventricular dysplasia 12		ISO	RGD:732396	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 | ClinVar Annotator: match by term: JUP-related disorder	PMID:10902626|PMID:16199547|PMID:16467215|PMID:16722579|PMID:17576681|PMID:18937352|PMID:19863551|PMID:20864495|PMID:21606396|PMID:21859740|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25351510|PMID:25363760|PMID:25445213|PMID:25741868|PMID:25765472|PMID:26220970|PMID:26272908|PMID:27157848|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28600387|PMID:28798025|PMID:28831623|PMID:28855170|PMID:29247119|PMID:29334134|PMID:29350269|PMID:29517769|PMID:29606362|PMID:29619247|PMID:29802319|PMID:30206291|PMID:30453078|PMID:30844837|PMID:30847666|PMID:31275992|PMID:31402444|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32233023|PMID:32789579|PMID:32880476|PMID:33303784|PMID:33919104|PMID:34076677|PMID:34500006|PMID:35091851|PMID:36008935|PMID:36178741|PMID:36788754|PMID:37198425|PMID:37418234|PMID:37477868|PMID:37614113|PMID:37781308|PMID:38254962|PMID:39180012|PMID:9536098
8793780	Jup	junction plakoglobin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:732396	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:21859740|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27662471|PMID:28166811|PMID:28492532|PMID:28831623
8793780	Jup	junction plakoglobin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:732396	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:21859740|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28831623
8793780	Jup	junction plakoglobin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:732396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:21859740|PMID:23861362|PMID:25741868|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28831623|PMID:38254962
8793780	Jup	junction plakoglobin	gene	DOID:10283	prostate cancer		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		DNA,mRNA,protein:loss of heterozygosity, decreased expression:tumor:relative to either BPH or normal prostate	PMID:15781623|REF_RGD_ID:2291864
8793780	Jup	junction plakoglobin	gene	DOID:10283	prostate cancer	severity	ISO	RGD:732396	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:significantly associated with capsular invasion (p=0.007 for all cases, p=0.015 for cases with Gleason score 5-7)	PMID:10206308|REF_RGD_ID:2291876
8793780	Jup	junction plakoglobin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8793780	Jup	junction plakoglobin	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:732396	D	RGD:9068941	20200609	RGD		protein:decreased expression:tumor:significant association with tumor grade and stage (p < 0.001)	PMID:17363521|REF_RGD_ID:2289818
8793780	Jup	junction plakoglobin	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:732397	D	RGD:9068941	20200609	RGD		DNA, protein:mutations, increased expression:urinary bladder	PMID:11585741|REF_RGD_ID:2301748
8793780	Jup	junction plakoglobin	gene	DOID:11054	urinary bladder cancer	severity	ISO	RGD:732396	D	RGD:9068941	20200609	RGD		protein:altered localization:tumor:loss of membrane expression associated with higher grade (p<0.05), higher stage (p<0.05), and poor survival (p<0.05)	PMID:9783980|REF_RGD_ID:2291880
8793780	Jup	junction plakoglobin	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:732396	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532
8793780	Jup	junction plakoglobin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732396	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:20031617|PMID:20857253|PMID:21859740|PMID:23861362|PMID:24033266|PMID:25616645|PMID:25741868|PMID:25820315|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28471438|PMID:28492532|PMID:28831623|PMID:31402444|PMID:31983221|PMID:32233023|PMID:34026867|PMID:35581137|PMID:38254962
8793780	Jup	junction plakoglobin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:21859740|PMID:23861362|PMID:25741868|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28831623|PMID:31983221|PMID:32233023|PMID:38254962
8793780	Jup	junction plakoglobin	gene	DOID:1380	endometrial cancer		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		protein:decreased expression:endometrium	PMID:12635138|REF_RGD_ID:2301747
8793780	Jup	junction plakoglobin	gene	DOID:161	keratosis		ISO	RGD:732396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: keratosis	
8793780	Jup	junction plakoglobin	gene	DOID:2154	nephroblastoma	disease_progression	ISO	RGD:732396	D	RGD:9068941	20200609	RGD			PMID:17633921|REF_RGD_ID:2301745
8793780	Jup	junction plakoglobin	gene	DOID:2394	ovarian cancer		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		DNA:loss of heterozygosity:tumor:in individuals carrying the BRCA1 predisposition	PMID:7604000|REF_RGD_ID:2291881
8793780	Jup	junction plakoglobin	gene	DOID:2843	long QT syndrome		ISO	RGD:732396	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:25741868|PMID:28492532
8793780	Jup	junction plakoglobin	gene	DOID:3008	invasive ductal carcinoma	disease_progression	ISO	RGD:732396	D	RGD:9068941	20200609	RGD		protein:decreased expression:tumor:associated with higher Robinson grade (p=0.016) and lymph node metastases (p=0.012)	PMID:16610682|REF_RGD_ID:2291882
8793780	Jup	junction plakoglobin	gene	DOID:3390	palmoplantar keratosis		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		Naxos disease, OMIM:601214    DNA:deletion:CDS:2157delTG	PMID:10902626|REF_RGD_ID:1600286
8793780	Jup	junction plakoglobin	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:732396	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:27532257|PMID:28492532|PMID:31983221|PMID:32233023
8793780	Jup	junction plakoglobin	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:732396	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:25741868|PMID:27532257|PMID:28492532|PMID:31983221|PMID:32233023
8793780	Jup	junction plakoglobin	gene	DOID:409	liver disease		ISO	RGD:732396	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
8793780	Jup	junction plakoglobin	gene	DOID:4440	seminoma		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor:relative to normal tissue (p<0.01)	PMID:11956097|REF_RGD_ID:2291872
8793780	Jup	junction plakoglobin	gene	DOID:4450	renal cell carcinoma		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		DNA:increased methylation:promoter:significantly increased methylation vs normal kidney (p < 0.01)	PMID:15701841|REF_RGD_ID:2291866
8793780	Jup	junction plakoglobin	gene	DOID:4450	renal cell carcinoma		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		protein:decreased expression:tumor:relative to normal kidney (p<0.001), higher expression associated with better survival rate (p<0.05)	PMID:9891472|REF_RGD_ID:2291890
8793780	Jup	junction plakoglobin	gene	DOID:4603	epidermolytic hyperkeratosis		ISO	RGD:732397	D	RGD:9068941	20220825	MouseDO		OMIM:113800	
8793780	Jup	junction plakoglobin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8793780	Jup	junction plakoglobin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793780	Jup	junction plakoglobin	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:732396	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:24033266|PMID:25741868|PMID:28492532
8793780	Jup	junction plakoglobin	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		protein:increased expression:testis	PMID:14670177|REF_RGD_ID:2301235
8793780	Jup	junction plakoglobin	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:732396	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:24033266|PMID:25741868|PMID:26220970|PMID:28492532|PMID:29334134|PMID:29350269
8793780	Jup	junction plakoglobin	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		associated with Ovarian Neoplasms	PMID:15619205|REF_RGD_ID:2301746
8793780	Jup	junction plakoglobin	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732396	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8793780	Jup	junction plakoglobin	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:732396	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:23861362|PMID:25741868|PMID:28492532
8793780	Jup	junction plakoglobin	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:732396	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:24033266|PMID:25741868|PMID:26220970|PMID:28492532|PMID:29334134|PMID:29350269
8793780	Jup	junction plakoglobin	gene	DOID:9005527	No-Reflow Phenomenon		ISO	RGD:732396	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16824628
8793780	Jup	junction plakoglobin	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		Naxos disease, OMIM:601214    DNA:deletion:CDS:2157delTG	PMID:10902626|REF_RGD_ID:1600286
8793780	Jup	junction plakoglobin	gene	DOID:9007288	Left Ventricular Noncompaction 1		ISO	RGD:732396	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction 1	PMID:25741868|PMID:28492532
8793780	Jup	junction plakoglobin	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:732396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sudden cardiac arrest	PMID:25741868|PMID:28492532
8793780	Jup	junction plakoglobin	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		DNA:loss of heterozygosity:tumor:in individuals carrying the BRCA1 predisposition	PMID:7604000|REF_RGD_ID:2291881
8793780	Jup	junction plakoglobin	gene	DOID:9008939	Breast Neoplasms	no_association	ISO	RGD:732396	D	RGD:9068941	20200609	RGD		Protein::tumor:normal expression in both T1 and T2 tumors	PMID:17008277|REF_RGD_ID:2291883
8793780	Jup	junction plakoglobin	gene	DOID:9008939	Breast Neoplasms	severity	ISO	RGD:732396	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor, cell membrane:significantly associated with relapse-free and overall survival (p=0.029 and 0.020, respectively)	PMID:11276001|REF_RGD_ID:2291873
8793780	Jup	junction plakoglobin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8793798	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8793798	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8793798	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:1115	sarcoma		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8793798	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8793798	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:3275	thymoma		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8793798	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1323344	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	
8793798	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323344	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8793798	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8793798	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793798	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8793798	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8793798	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:0050797	peroxisomal acyl-CoA oxidase deficiency		ISO	RGD:1344840	D	RGD:7240710	20180130	OMIM			
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:0050797	peroxisomal acyl-CoA oxidase deficiency		ISO	RGD:1344840	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: ACOX1-related condition | ClinVar Annotator: match by term: ACOX1-related disorder | ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy	PMID:11815777|PMID:16199547|PMID:16773508|PMID:17458872|PMID:17576681|PMID:18536048|PMID:20185470|PMID:24033266|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26965209|PMID:28492532|PMID:2894756|PMID:30561787|PMID:31130284|PMID:32169171|PMID:33510602|PMID:8040306|PMID:8279468|PMID:9536098
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:0050797	peroxisomal acyl-CoA oxidase deficiency		ISO	RGD:1344840	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACOX1-related condition | ClinVar Annotator: match by term: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY | ClinVar Annotator: match by term: Peroxisomal acyl CoA oxidase deficiency | ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy | ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY | ClinVar Annotator: match by term: peroxisomal acyl-CoA oxidase deficiency	PMID:16199547|PMID:17458872|PMID:24033266|PMID:25326637|PMID:25741868|PMID:28492532|PMID:8040306
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:0070234	Loeys-Dietz syndrome 2		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Loeys-Dietz syndrome 2	PMID:25741868
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:0070516	Mitchell syndrome		ISO	RGD:1344840	D	RGD:7240710	20201104	OMIM			
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:0070516	Mitchell syndrome		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitchell syndrome	PMID:16199547|PMID:17458872|PMID:25741868|PMID:28492532|PMID:8040306
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:0080918	polymicrogyria		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:0110167	Charcot-Marie-Tooth disease axonal type 2K		ISO	RGD:1344840	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K	PMID:25326637|PMID:28492532
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:0110201	Charcot-Marie-Tooth disease recessive intermediate A		ISO	RGD:1344840	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate A	PMID:25326637|PMID:28492532
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:10892	hypospadias		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:10907	microcephaly		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:1826	epilepsy		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:3275	thymoma		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1344840	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:630	genetic disease		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:9000590	Dyspnea		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:25741868
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1344840	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Muscle weakness | ClinVar Annotator: match by term: Progressive muscle weakness	PMID:25741868
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1344840	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14563825
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:619757	D	RGD:9068941	20240201	RGD			PMID:30298849|REF_RGD_ID:401960083
8793820	Acox1	acyl-CoA oxidase 1	gene	DOID:9970	obesity	treatment	ISO	RGD:619757	D	RGD:9068941	20240201	RGD			PMID:30298849|REF_RGD_ID:401960083
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1323505	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:10763	hypertension		ISO	RGD:1311838	D	RGD:9068941	20230608	RGD		mRNA, protein:splice variant, increased expression:mesenteric artery (rat)	PMID:28993448|REF_RGD_ID:329848961
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:11722	myotonic dystrophy type 1		ISO	RGD:1323505	D	RGD:9068941	20230608	RGD		protein:increased expression:heart (human)	PMID:32109384|REF_RGD_ID:329848958
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1323506	D	RGD:9068941	20230601	RGD			PMID:25753418|REF_RGD_ID:329845877
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:1324	lung cancer		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:1682	congenital heart disease		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart defect | ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868|PMID:28492532
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:3275	thymoma		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:6000	congestive heart failure		ISO	RGD:1323506	D	RGD:9068941	20230608	RGD		protein:decreased expression:heart (mouse)	PMID:25753418|REF_RGD_ID:329845877
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:630	genetic disease		ISO	RGD:1323505	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1323505	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1323506	D	RGD:9068941	20230601	RGD		mRNA:splice variant: heart (mouse)	PMID:27239029|REF_RGD_ID:329845874
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1323506	D	RGD:9068941	20230608	RGD		protein:increased expression:heart, cytoplasm (mouse)	PMID:24151077|REF_RGD_ID:329848997
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1323505	D	RGD:9068941	20230601	RGD		mRNA:splice variant: heart (human)	PMID:27239029|REF_RGD_ID:329845874
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1323506	D	RGD:9068941	20230601	RGD		mRNA:splice variant: heart (mouse)	PMID:27239029|REF_RGD_ID:329845874
8793884	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1323505	D	RGD:9068941	20260521	RGD		protein:alternative form:heart (human)	PMID:27485310|REF_RGD_ID:329848956
8793980	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8793980	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:10534	stomach cancer		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8793980	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:1115	sarcoma		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8793980	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:1324	lung cancer		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8793980	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:13269	hereditary coproporphyria		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary coproporphyria	PMID:25741868
8793980	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:1909	melanoma		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8793980	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:3070	high grade glioma		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8793980	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8793980	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8793980	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:5041	esophageal cancer		ISO	RGD:1601865	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8793980	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8793980	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8793980	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:674	cleft palate		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
8793980	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8793980	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:9003566	Mesothelioma		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8793980	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8793980	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:9004657	Weight Gain		ISO	RGD:1601865	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8793980	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8793980	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8793980	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601865	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8794002	Elspbp1	epididymal sperm binding protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8794002	Elspbp1	epididymal sperm binding protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1354263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8794019	Rabgap1l	RAB GTPase activating protein 1 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8794019	Rabgap1l	RAB GTPase activating protein 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8794019	Rabgap1l	RAB GTPase activating protein 1 like	gene	DOID:10534	stomach cancer		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8794019	Rabgap1l	RAB GTPase activating protein 1 like	gene	DOID:1909	melanoma		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8794019	Rabgap1l	RAB GTPase activating protein 1 like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8794019	Rabgap1l	RAB GTPase activating protein 1 like	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8794019	Rabgap1l	RAB GTPase activating protein 1 like	gene	DOID:4362	cervical cancer		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8794019	Rabgap1l	RAB GTPase activating protein 1 like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8794019	Rabgap1l	RAB GTPase activating protein 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794019	Rabgap1l	RAB GTPase activating protein 1 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8794019	Rabgap1l	RAB GTPase activating protein 1 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8794019	Rabgap1l	RAB GTPase activating protein 1 like	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1347519	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8794019	Rabgap1l	RAB GTPase activating protein 1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8794019	Rabgap1l	RAB GTPase activating protein 1 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8794019	Rabgap1l	RAB GTPase activating protein 1 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8794086	Rwdd2a	RWD domain containing 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8794086	Rwdd2a	RWD domain containing 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8794096	Syn1	synapsin I	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	
8794096	Syn1	synapsin I	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8794096	Syn1	synapsin I	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:731422	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8794096	Syn1	synapsin I	gene	DOID:0060058	lymphoma		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8794096	Syn1	synapsin I	gene	DOID:0112029	non-syndromic X-linked intellectual disability 50		ISO	RGD:731422	D	RGD:7240710	20190717	OMIM			
8794096	Syn1	synapsin I	gene	DOID:0112029	non-syndromic X-linked intellectual disability 50		ISO	RGD:731422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50	PMID:21441247|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31969655
8794096	Syn1	synapsin I	gene	DOID:0112122	X-linked epilepsy with variable learning disabilities and behavior disorders		ISO	RGD:731422	D	RGD:7240710	20180130	OMIM			
8794096	Syn1	synapsin I	gene	DOID:0112122	X-linked epilepsy with variable learning disabilities and behavior disorders		ISO	RGD:731422	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPILEPSY, X-LINKED 1, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS | ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome	PMID:14985377|PMID:15071120|PMID:16199547|PMID:17576681|PMID:21441247|PMID:25741868|PMID:25741869|PMID:26173895|PMID:26467025|PMID:28492532|PMID:28973667|PMID:31969655|PMID:33057194|PMID:33526774|PMID:33809712|PMID:35982159|PMID:36413997|PMID:36568968|PMID:9536098
8794096	Syn1	synapsin I	gene	DOID:1059	intellectual disability		ISO	RGD:731422	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:36568968
8794096	Syn1	synapsin I	gene	DOID:1115	sarcoma		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8794096	Syn1	synapsin I	gene	DOID:11162	respiratory failure		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	
8794096	Syn1	synapsin I	gene	DOID:12849	autistic disorder		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:15071120|PMID:28492532
8794096	Syn1	synapsin I	gene	DOID:1470	major depressive disorder		ISO	RGD:731422	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:dorsolateral prefrontal cortex	PMID:22885997|REF_RGD_ID:6892958
8794096	Syn1	synapsin I	gene	DOID:1596	depressive disorder		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
8794096	Syn1	synapsin I	gene	DOID:1657	ventricular septal defect		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:15071120|PMID:28492532
8794096	Syn1	synapsin I	gene	DOID:1682	congenital heart disease		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:15071120|PMID:28492532
8794096	Syn1	synapsin I	gene	DOID:1826	epilepsy		ISO	RGD:731422	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:36568968
8794096	Syn1	synapsin I	gene	DOID:2975	cystic kidney disease		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:15071120|PMID:28492532
8794096	Syn1	synapsin I	gene	DOID:3087	gingivitis		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868|PMID:28492532
8794096	Syn1	synapsin I	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:26467025|PMID:28492532
8794096	Syn1	synapsin I	gene	DOID:540	strabismus		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:15071120|PMID:28492532
8794096	Syn1	synapsin I	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794096	Syn1	synapsin I	gene	DOID:630	genetic disease		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15071120|PMID:25741868|PMID:28492532
8794096	Syn1	synapsin I	gene	DOID:83	cataract		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:15071120|PMID:28492532
8794096	Syn1	synapsin I	gene	DOID:9001276	Failure to Thrive		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
8794096	Syn1	synapsin I	gene	DOID:9002134	Heart Murmurs		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:15071120|PMID:28492532
8794096	Syn1	synapsin I	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
8794096	Syn1	synapsin I	gene	DOID:9003816	Macrocephaly		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8794096	Syn1	synapsin I	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:731422	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
8794096	Syn1	synapsin I	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
8794096	Syn1	synapsin I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8794096	Syn1	synapsin I	gene	DOID:9007573	Flatfoot		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:15071120|PMID:28492532
8794096	Syn1	synapsin I	gene	DOID:9007661	Dwarfism		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
8794096	Syn1	synapsin I	gene	DOID:9007692	Insulin Resistance		ISO	RGD:3797	D	RGD:9068941	20200609	RGD			PMID:29566703|REF_RGD_ID:13542091
8794096	Syn1	synapsin I	gene	DOID:9008023	Memory Disorders		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
8794096	Syn1	synapsin I	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8794096	Syn1	synapsin I	gene	DOID:9008214	Genu Valgum		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:15071120|PMID:28492532
8794096	Syn1	synapsin I	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:0050635	alternating hemiplegia of childhood		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alternating hemiplegia of childhood	PMID:25741868
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:16538223|PMID:18957371|PMID:22117059|PMID:28492532|PMID:33880529
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:0050952	spastic ataxia		ISO	RGD:736008	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:0060046	aphasia		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphasia	PMID:30311386
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:0060178	familial hemiplegic migraine		ISO	RGD:736008	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial hemiplegic migraine	PMID:11439943|PMID:12023326|PMID:12953268|PMID:15159495|PMID:15174025|PMID:15286158|PMID:15459825|PMID:16088919|PMID:16110494|PMID:16199547|PMID:16344534|PMID:16538223|PMID:17142831|PMID:17473835|PMID:17576681|PMID:17877748|PMID:17952365|PMID:18056581|PMID:18075585|PMID:18414213|PMID:18498390|PMID:18513263|PMID:18644608|PMID:18728015|PMID:18957371|PMID:19372756|PMID:19455354|PMID:19458722|PMID:19874388|PMID:2|PMID:2019|PMID:20837964|PMID:21352219|PMID:21398422|PMID:21533730|PMID:22117059|PMID:22314763|PMID:23821026|PMID:23838748|PMID:23954377|PMID:24498617|PMID:24704353|PMID:24921013|PMID:25741868|PMID:25948653|PMID:26467025|PMID:26544041|PMID:27066515|PMID:27226003|PMID:27445835|PMID:27790126|PMID:27864847|PMID:28492532|PMID:28811059|PMID:29062094|PMID:29261713|PMID:29343472|PMID:29486580|PMID:29655203|PMID:29867740|PMID:30185235|PMID:30523548|PMID:30690204|PMID:31737037|PMID:32345385|PMID:33057194|PMID:33126486|PMID:33794876|PMID:33880529|PMID:34229663|PMID:34384358|PMID:35231114|PMID:35658369|PMID:35982159|PMID:36035117|PMID:36480001|PMID:36703223|PMID:37142513|PMID:37576133|PMID:38512072|PMID:38674378|PMID:9536098
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:0070384	developmental and epileptic encephalopathy 98		ISO	RGD:736008	D	RGD:7240710	20211201	OMIM			
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:0070384	developmental and epileptic encephalopathy 98		ISO	RGD:736008	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 98	PMID:11439943|PMID:12023326|PMID:15159495|PMID:16088919|PMID:16344534|PMID:17877748|PMID:18028456|PMID:18414213|PMID:18498390|PMID:18513263|PMID:18728015|PMID:2|PMID:2019|PMID:20837964|PMID:21533730|PMID:22117059|PMID:23954377|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30523548|PMID:31737037|PMID:32345385|PMID:33126486|PMID:33794876|PMID:35231114|PMID:36035117
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:0080918	polymicrogyria		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:16088919|PMID:18728015|PMID:22117059|PMID:25741868|PMID:26467025|PMID:28492532
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:0081116	benign familial infantile seizures 3		ISO	RGD:736008	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizures, benign familial infantile, 3	
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:0111182	familial hemiplegic migraine 2		ISO	RGD:736008	D	RGD:7240710	20180130	OMIM			
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:0111182	familial hemiplegic migraine 2		ISO	RGD:736008	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 | ClinVar Annotator: match by term: Migraine, familial hemiplegic, 2	PMID:11439943|PMID:12023326|PMID:12539047|PMID:15159495|PMID:15459825|PMID:16088919|PMID:16344534|PMID:16538223|PMID:17473835|PMID:17576681|PMID:17877748|PMID:18056581|PMID:18414213|PMID:18498390|PMID:18513263|PMID:18728015|PMID:19372756|PMID:2|PMID:2019|PMID:20837964|PMID:21352219|PMID:21398422|PMID:21533730|PMID:22117059|PMID:23821026|PMID:23954377|PMID:24704353|PMID:25741868|PMID:26467025|PMID:27790126|PMID:28492532|PMID:29261713|PMID:30523548|PMID:30690204|PMID:31737037|PMID:32345385|PMID:33126486|PMID:33794876|PMID:34229663|PMID:34384358|PMID:35231114|PMID:35257835|PMID:35658369|PMID:37142513|PMID:37576133|PMID:38674378|PMID:9536098
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:736008	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:25741868|PMID:28492532|PMID:28811059|PMID:38512072
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:10024	migraine with aura		ISO	RGD:736008	D	RGD:9068941	20200609	RGD			PMID:12953268|REF_RGD_ID:1358436
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:10534	stomach cancer		ISO	RGD:736008	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:1059	intellectual disability		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:11439943|PMID:12023326|PMID:16088919|PMID:18728015|PMID:20837964|PMID:22117059|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30690204|PMID:31737037|PMID:32345385|PMID:33794876|PMID:35231114
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:10763	hypertension		ISO	RGD:10206	D	RGD:9068941	20200609	RGD			PMID:16243970|REF_RGD_ID:1601251
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:10763	hypertension		ISO	RGD:2168	D	RGD:9068941	20200609	RGD		protein:decreased expression:adrenal gland cortex zone	PMID:11768735|REF_RGD_ID:1601253
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:10763	hypertension		ISO	RGD:736008	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16166162|PMID:16243970
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:736008	D	RGD:9068941	20200609	RGD			PMID:11257061|REF_RGD_ID:1601254
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:10969	hemiplegia		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiplegia | ClinVar Annotator: match by term: hemiplegia	PMID:25741868|PMID:28492532
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:1115	sarcoma		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:12849	autistic disorder		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:30690204
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:1324	lung cancer		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:14264	benign neonatal seizures		ISO	RGD:736008	D	RGD:9068941	20200609	RGD			PMID:12953268|REF_RGD_ID:1358436
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:1826	epilepsy		ISO	RGD:736008	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizure	PMID:15159495|PMID:16088919|PMID:16538223|PMID:18075585|PMID:18644608|PMID:18728015|PMID:18957371|PMID:19372756|PMID:22117059|PMID:23821026|PMID:24921013|PMID:25741868|PMID:26467025|PMID:27445835|PMID:27790126|PMID:28492532|PMID:29062094|PMID:29261713|PMID:29610157|PMID:33493807|PMID:33880529
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:736008	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:16538223|PMID:17473835|PMID:22117059|PMID:25741868|PMID:28492532|PMID:34384358
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:2316	brain ischemia		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral ischemia	PMID:25741868
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868|PMID:28492532|PMID:29261713
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:3310	atopic dermatitis		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868|PMID:28492532|PMID:29261713
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:5041	esophageal cancer		ISO	RGD:736008	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:630	genetic disease		ISO	RGD:736008	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15159495|PMID:16088919|PMID:16199547|PMID:16538223|PMID:17435187|PMID:17473835|PMID:17576681|PMID:17877748|PMID:18414213|PMID:18513263|PMID:18957371|PMID:19458722|PMID:20720542|PMID:21533730|PMID:22117059|PMID:23954377|PMID:24921013|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29486580|PMID:29655203|PMID:29867740|PMID:30523548|PMID:30690204|PMID:33126486|PMID:33880529|PMID:34384358|PMID:36035117|PMID:9536098
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:6364	migraine		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:16344534|PMID:18498390|PMID:2|PMID:2019|PMID:23954377|PMID:25741868|PMID:28492532
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9000053	Headache		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:25741868|PMID:28492532|PMID:29261713
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9000945	Ventilator-Induced Lung Injury		ISO	RGD:2168	D	RGD:9068941	20200609	RGD			PMID:18424620|REF_RGD_ID:6903342
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9001366	Psychomotor Agitation		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Restlessness	PMID:16538223|PMID:18957371|PMID:22117059|PMID:28492532|PMID:33880529
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9001804	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES		ISO	RGD:736008	D	RGD:7240710	20220209	OMIM			
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9001804	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES		ISO	RGD:736008	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	PMID:15159495|PMID:17142831|PMID:17877748|PMID:18414213|PMID:18513263|PMID:18728015|PMID:21533730|PMID:23954377|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30523548|PMID:30690204|PMID:33126486
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9002079	Paresis		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiparesis	PMID:16088919|PMID:18728015|PMID:22117059|PMID:25741868|PMID:26467025|PMID:28492532
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:2168	D	RGD:9068941	20200609	RGD			PMID:15644428|REF_RGD_ID:6903354
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9005462	Familial Basilar Migraine		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine, familial basilar	PMID:16344534|PMID:18498390|PMID:2|PMID:2019|PMID:23954377|PMID:25741868|PMID:28492532
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9005466	Language Development Disorders		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868|PMID:28492532|PMID:30690204
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9007073	Cough		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cough	PMID:16538223|PMID:18957371|PMID:22117059|PMID:28492532|PMID:33880529
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:16088919|PMID:18728015|PMID:22117059|PMID:25741868|PMID:26467025|PMID:28492532
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9007661	Dwarfism		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:736008	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skeletal muscle	PMID:14576983|REF_RGD_ID:1601252
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9008617	Lethargy		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:16538223|PMID:18957371|PMID:22117059|PMID:28492532|PMID:33880529
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9009197	Alternating Hemiplegia of Childhood 1		ISO	RGD:736008	D	RGD:7240710	20190320	OMIM			
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9009197	Alternating Hemiplegia of Childhood 1		ISO	RGD:736008	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 | ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1	PMID:11439943|PMID:12023326|PMID:15159495|PMID:15174025|PMID:15286158|PMID:15459825|PMID:16437583|PMID:17576681|PMID:17877748|PMID:18414213|PMID:18513263|PMID:18728015|PMID:19372756|PMID:20837964|PMID:21533730|PMID:23821026|PMID:23954377|PMID:25741868|PMID:26467025|PMID:27790126|PMID:28492532|PMID:28717674|PMID:29486580|PMID:29655203|PMID:30423015|PMID:30523548|PMID:31737037|PMID:32345385|PMID:33126486|PMID:33794876|PMID:34384358|PMID:35231114|PMID:9536098
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:2168	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebral cortex	PMID:23467881|REF_RGD_ID:11576285
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:936	brain disease		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:28492532
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9840	esotropia		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9888	alternating esotropia		ISO	RGD:736008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alternating esotropia	PMID:25741868
8794119	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	gene	DOID:9970	obesity	susceptibility	ISO	RGD:10206	D	RGD:9068941	20200609	RGD			PMID:16286513|REF_RGD_ID:1601250
8794146	Pnck	pregnancy up-regulated nonubiquitous CaM kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8794146	Pnck	pregnancy up-regulated nonubiquitous CaM kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8794146	Pnck	pregnancy up-regulated nonubiquitous CaM kinase	gene	DOID:1909	melanoma		ISO	RGD:1605290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8794146	Pnck	pregnancy up-regulated nonubiquitous CaM kinase	gene	DOID:3275	thymoma		ISO	RGD:1605290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8794146	Pnck	pregnancy up-regulated nonubiquitous CaM kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794146	Pnck	pregnancy up-regulated nonubiquitous CaM kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8794174	Eri3	ERI1 exoribonuclease family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8794174	Eri3	ERI1 exoribonuclease family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8794174	Eri3	ERI1 exoribonuclease family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1318310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8794174	Eri3	ERI1 exoribonuclease family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1318310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8794174	Eri3	ERI1 exoribonuclease family member 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8794174	Eri3	ERI1 exoribonuclease family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8794174	Eri3	ERI1 exoribonuclease family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8794174	Eri3	ERI1 exoribonuclease family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8794207	Mppe1	metallophosphoesterase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8794207	Mppe1	metallophosphoesterase 1	gene	DOID:1324	lung cancer		ISO	RGD:1319383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8794207	Mppe1	metallophosphoesterase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794207	Mppe1	metallophosphoesterase 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1319383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8794207	Mppe1	metallophosphoesterase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8794231	Tmprss12	transmembrane serine protease 12	gene	DOID:1909	melanoma		ISO	RGD:1606922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8794231	Tmprss12	transmembrane serine protease 12	gene	DOID:4362	cervical cancer		ISO	RGD:1606922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8794231	Tmprss12	transmembrane serine protease 12	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8794231	Tmprss12	transmembrane serine protease 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8794256	Eif2d	eukaryotic translation initiation factor 2D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8794256	Eif2d	eukaryotic translation initiation factor 2D	gene	DOID:10534	stomach cancer		ISO	RGD:1322883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8794256	Eif2d	eukaryotic translation initiation factor 2D	gene	DOID:1324	lung cancer		ISO	RGD:1322883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8794256	Eif2d	eukaryotic translation initiation factor 2D	gene	DOID:5041	esophageal cancer		ISO	RGD:1322883	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8794256	Eif2d	eukaryotic translation initiation factor 2D	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8794256	Eif2d	eukaryotic translation initiation factor 2D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794256	Eif2d	eukaryotic translation initiation factor 2D	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8794256	Eif2d	eukaryotic translation initiation factor 2D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8794256	Eif2d	eukaryotic translation initiation factor 2D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8794256	Eif2d	eukaryotic translation initiation factor 2D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:0060058	lymphoma		ISO	RGD:1350671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	ISO	RGD:727948	D	RGD:9068941	20250710	RGD			PMID:24814604|REF_RGD_ID:617183686
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:727948	D	RGD:9068941	20230720	RGD			PMID:26394137|REF_RGD_ID:329955565
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:0080600	COVID-19		ISO	RGD:1350671	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:10534	stomach cancer		ISO	RGD:1350671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:1115	sarcoma		ISO	RGD:1350671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1350671	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17932310
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:1324	lung cancer		ISO	RGD:1350671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:1909	melanoma		ISO	RGD:1350671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:2394	ovarian cancer		ISO	RGD:1350671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:3275	thymoma		ISO	RGD:1350671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1350671	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:22975021
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1350671	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:6039	uveal melanoma		ISO	RGD:1350671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:9004484	Sepsis		ISO	RGD:1331978	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:skeletal muscle	PMID:20647557|REF_RGD_ID:6484531
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:9004484	Sepsis		ISO	RGD:727948	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:skeletal muscle	PMID:20647557|REF_RGD_ID:6484531
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1350671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:9006599	Hypertriglyceridemia	treatment	ISO	RGD:727948	D	RGD:9068941	20230720	RGD			PMID:26394137|REF_RGD_ID:329955565
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1350671	D	RGD:9068941	20200609	RGD			PMID:16896940|REF_RGD_ID:1642499
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:727948	D	RGD:9068941	20230720	RGD			PMID:26394137|REF_RGD_ID:329955565
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1350671	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20961995
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:9256	colorectal cancer		ISO	RGD:1350671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:1350671	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:102605C>A	PMID:16759305|REF_RGD_ID:1642500
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:9970	obesity		ISO	RGD:1350671	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:30738174
8794290	Ppargc1b	PPARG coactivator 1 beta	gene	DOID:9970	obesity	resistance	ISO	RGD:1350671	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.A203P	PMID:15863669|REF_RGD_ID:1642501
8794318	Cap2	cyclase associated actin cytoskeleton regulatory protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8794318	Cap2	cyclase associated actin cytoskeleton regulatory protein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:733378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	
8794318	Cap2	cyclase associated actin cytoskeleton regulatory protein 2	gene	DOID:3275	thymoma		ISO	RGD:733378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8794318	Cap2	cyclase associated actin cytoskeleton regulatory protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:733378	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8794318	Cap2	cyclase associated actin cytoskeleton regulatory protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8794318	Cap2	cyclase associated actin cytoskeleton regulatory protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794318	Cap2	cyclase associated actin cytoskeleton regulatory protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8794318	Cap2	cyclase associated actin cytoskeleton regulatory protein 2	gene	DOID:9001926	Dilated Cardiomyopathy 2I		ISO	RGD:733378	D	RGD:7240710	20230809	OMIM			
8794318	Cap2	cyclase associated actin cytoskeleton regulatory protein 2	gene	DOID:9001926	Dilated Cardiomyopathy 2I		ISO	RGD:733378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 2I | ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2I	PMID:25741868|PMID:33083013
8794318	Cap2	cyclase associated actin cytoskeleton regulatory protein 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8794318	Cap2	cyclase associated actin cytoskeleton regulatory protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8794334	APOA1	apolipoprotein A1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:735962	D	RGD:9068941	20200609	RGD		DNA: polymorphism: :G2, G3 and G5	PMID:21410987|REF_RGD_ID:5508220
8794334	Apoa1	apolipoprotein A1	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:735962	D	RGD:9068941	20200609	RGD		protein: decreased expression: respiratory system fluid/secretion	PMID:20463180|REF_RGD_ID:5508222
8794334	Apoa1	apolipoprotein A1	gene	DOID:0050636	hereditary systemic amyloidosis 2		ISO	RGD:735962	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMYLOIDOSIS VIII	PMID:25741868|PMID:28492532
8794334	Apoa1	apolipoprotein A1	gene	DOID:0051061	stroke		ISO	RGD:735962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19433014
8794334	Apoa1	apolipoprotein A1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:10173	D	RGD:9068941	20200609	RGD			PMID:26420354|REF_RGD_ID:25671437
8794334	Apoa1	apolipoprotein A1	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:736547	D	RGD:9068941	20200609	RGD			PMID:19637234|REF_RGD_ID:7241572
8794334	Apoa1	apolipoprotein A1	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:2130	D	RGD:9068941	20200609	RGD		mRNA, protein: increased expression:liver, serum (rat)	PMID:30187493|REF_RGD_ID:25671434
8794334	Apoa1	apolipoprotein A1	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:735962	D	RGD:9068941	20200609	RGD		human gene in mouse model	PMID:24793484|REF_RGD_ID:21408551
8794334	Apoa1	apolipoprotein A1	gene	DOID:0080957	primary hypoalphalipoproteinemia 1		ISO	RGD:735962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1	PMID:25741868|PMID:28492532
8794334	Apoa1	apolipoprotein A1	gene	DOID:0080958	primary hypoalphalipoproteinemia 2		ISO	RGD:735962	D	RGD:7240710	20180130	OMIM			
8794334	Apoa1	apolipoprotein A1	gene	DOID:0080958	primary hypoalphalipoproteinemia 2		ISO	RGD:735962	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: APOA1-related condition | ClinVar Annotator: match by term: APOLIPOPROTEIN A-I DEFICIENCY | ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 | ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate	PMID:21944998|PMID:2512329|PMID:25741868|PMID:26363436|PMID:28492532|PMID:28870971|PMID:30184436|PMID:9012641
8794334	Apoa1	apolipoprotein A1	gene	DOID:0090028	familial isolated deficiency of vitamin E		ISO	RGD:735962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18458655
8794334	Apoa1	apolipoprotein A1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:735962	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
8794334	Apoa1	apolipoprotein A1	gene	DOID:10652	Alzheimer's disease	resistance	ISO	RGD:735962	D	RGD:9068941	20200609	RGD			PMID:19863188|REF_RGD_ID:5508218
8794334	Apoa1	apolipoprotein A1	gene	DOID:10652	Alzheimer's disease	resistance	ISO	RGD:735962	D	RGD:9068941	20200609	RGD		DNA: : :transgenic model	PMID:20847045|REF_RGD_ID:5508212
8794334	Apoa1	apolipoprotein A1	gene	DOID:10763	hypertension		ISO	RGD:2130	D	RGD:9068941	20200609	RGD			PMID:23401751|REF_RGD_ID:7241867
8794334	Apoa1	apolipoprotein A1	gene	DOID:10763	hypertension		ISO	RGD:735962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18224302
8794334	Apoa1	apolipoprotein A1	gene	DOID:10976	membranous glomerulonephritis		ISO	RGD:735962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7900854
8794334	Apoa1	apolipoprotein A1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:2130	D	RGD:9068941	20200609	RGD		protein:increased expression:sciatic nerve:	PMID:2493483|REF_RGD_ID:7495790
8794334	Apoa1	apolipoprotein A1	gene	DOID:11512	Budd-Chiari syndrome		ISO	RGD:735962	D	RGD:9068941	20200609	RGD		protein: decreased expression: plasma (human)	PMID:21145806|REF_RGD_ID:25671435
8794334	Apoa1	apolipoprotein A1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:735962	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:25741868|PMID:28492532
8794334	Apoa1	apolipoprotein A1	gene	DOID:1184	nephrotic syndrome		ISO	RGD:2130	D	RGD:9068941	20200609	RGD			PMID:18614621|REF_RGD_ID:2313652
8794334	Apoa1	apolipoprotein A1	gene	DOID:13241	Behcet's disease		ISO	RGD:735962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12074830
8794334	Apoa1	apolipoprotein A1	gene	DOID:1387	hypolipoproteinemia		ISO	RGD:735962	D	RGD:9068941	20200609	RGD			PMID:9931341|REF_RGD_ID:734583
8794334	Apoa1	apolipoprotein A1	gene	DOID:1391	Norum disease		ISO	RGD:735962	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: APOLIPOPROTEIN A-I (GIESSEN)	PMID:28492532|PMID:6489332
8794334	Apoa1	apolipoprotein A1	gene	DOID:14330	Parkinson's disease		ISO	RGD:735962	D	RGD:9068941	20200609	RGD		protein: altered expression: cerebrospinal fluid: 2 different isoforms	PMID:20085559|REF_RGD_ID:5508216
8794334	Apoa1	apolipoprotein A1	gene	DOID:1470	major depressive disorder	susceptibility	ISO	RGD:2130	D	RGD:9068941	20200609	RGD		protein: increased expression: cerebrospinal fluid	PMID:20580919|REF_RGD_ID:5128563
8794334	Apoa1	apolipoprotein A1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:735962	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:23056237
8794334	Apoa1	apolipoprotein A1	gene	DOID:1793	pancreatic cancer		ISO	RGD:735962	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:17312459|REF_RGD_ID:2325758
8794334	Apoa1	apolipoprotein A1	gene	DOID:1793	pancreatic cancer		ISO	RGD:735962	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:17332923|REF_RGD_ID:2325757
8794334	Apoa1	apolipoprotein A1	gene	DOID:1883	hepatitis C	severity	ISO	RGD:735962	D	RGD:9068941	20200609	RGD		associated with liver cirrhosis; protein:decreased expression:serum (human)	PMID:19818291|REF_RGD_ID:25671441
8794334	Apoa1	apolipoprotein A1	gene	DOID:1936	atherosclerosis		ISO	RGD:735962	D	RGD:9068941	20200609	RGD			PMID:23078847|REF_RGD_ID:7241852
8794334	Apoa1	apolipoprotein A1	gene	DOID:1936	atherosclerosis		ISO	RGD:735962	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:33861588
8794334	Apoa1	apolipoprotein A1	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:735962	D	RGD:9068941	20200609	RGD			PMID:18287885|REF_RGD_ID:7241575
8794334	Apoa1	apolipoprotein A1	gene	DOID:2349	arteriosclerosis	treatment	ISO	RGD:2130	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic	PMID:20639628|REF_RGD_ID:5508221
8794334	Apoa1	apolipoprotein A1	gene	DOID:2377	multiple sclerosis		ISO	RGD:735962	D	RGD:9068941	20200609	RGD		protein:increased expression: serum	PMID:20350318|REF_RGD_ID:5508215
8794334	Apoa1	apolipoprotein A1	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:2130	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:urinary bladder	PMID:19399409|REF_RGD_ID:2325183
8794334	Apoa1	apolipoprotein A1	gene	DOID:2671	transitional cell carcinoma	severity	ISO	RGD:735962	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:21496341|REF_RGD_ID:7241214
8794334	Apoa1	apolipoprotein A1	gene	DOID:299	adenocarcinoma		ISO	RGD:735962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
8794334	Apoa1	apolipoprotein A1	gene	DOID:3146	lipid metabolism disorder		ISO	RGD:735962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:6816881
8794334	Apoa1	apolipoprotein A1	gene	DOID:3393	coronary artery disease		ISO	RGD:735962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27135400
8794334	Apoa1	apolipoprotein A1	gene	DOID:3393	coronary artery disease		ISO	RGD:735962	D	RGD:9068941	20200609	RGD			PMID:2128269|REF_RGD_ID:1601188
8794334	Apoa1	apolipoprotein A1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:10173	D	RGD:9068941	20200609	RGD		protein:decreased expression: respiratory system fluid/secretion	PMID:20463180|REF_RGD_ID:5508222
8794334	Apoa1	apolipoprotein A1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:735962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19381893
8794334	Apoa1	apolipoprotein A1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735962	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:19486127|REF_RGD_ID:2325756
8794334	Apoa1	apolipoprotein A1	gene	DOID:5082	liver cirrhosis		ISO	RGD:735962	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum (human)	PMID:27106140|REF_RGD_ID:25671439
8794334	Apoa1	apolipoprotein A1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:735962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12646808
8794334	Apoa1	apolipoprotein A1	gene	DOID:5409	lung small cell carcinoma	treatment	ISO	RGD:735962	D	RGD:9068941	20220908	RGD			PMID:26996551|REF_RGD_ID:11561502
8794334	Apoa1	apolipoprotein A1	gene	DOID:5844	myocardial infarction		ISO	RGD:735962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myocardial infarction	PMID:25741868
8794334	Apoa1	apolipoprotein A1	gene	DOID:5844	myocardial infarction	no_association	ISO	RGD:735962	D	RGD:9068941	20200609	RGD		DNA:polymorphisms	PMID:10428310|REF_RGD_ID:1578442
8794334	Apoa1	apolipoprotein A1	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:2130	D	RGD:9068941	20241116	RGD			PMID:31734577|REF_RGD_ID:408418726
8794334	Apoa1	apolipoprotein A1	gene	DOID:6000	congestive heart failure		ISO	RGD:735962	D	RGD:9068941	20200609	RGD		protein: decreased expression: serum	PMID:17517342|REF_RGD_ID:5508219
8794334	Apoa1	apolipoprotein A1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
8794334	Apoa1	apolipoprotein A1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:735962	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma (human)	PMID:23935864|REF_RGD_ID:25671438
8794334	Apoa1	apolipoprotein A1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:735962	D	RGD:9068941	20220908	RGD		associated with hepatitis B;	PMID:31211449|REF_RGD_ID:153350082
8794334	Apoa1	apolipoprotein A1	gene	DOID:687	hepatoblastoma		ISO	RGD:735962	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:serum (human)	PMID:27974108|REF_RGD_ID:25671440
8794334	Apoa1	apolipoprotein A1	gene	DOID:783	end stage renal disease		ISO	RGD:735962	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood	PMID:22515595|REF_RGD_ID:7241208
8794334	Apoa1	apolipoprotein A1	gene	DOID:783	end stage renal disease		ISO	RGD:735962	D	RGD:9068941	20200609	RGD		protein:increased expression, increased glycation:plasma	PMID:18079481|REF_RGD_ID:7241576
8794334	Apoa1	apolipoprotein A1	gene	DOID:783	end stage renal disease	treatment	ISO	RGD:10173	D	RGD:9068941	20200609	RGD		associated with Hyperlipidemias	PMID:20488818|REF_RGD_ID:7241571
8794334	Apoa1	apolipoprotein A1	gene	DOID:784	chronic kidney disease		ISO	RGD:735962	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868|PMID:28492532|PMID:32723786
8794334	Apoa1	apolipoprotein A1	gene	DOID:7998	hyperthyroidism		ISO	RGD:2130	D	RGD:9068941	20200609	RGD			PMID:1466661|REF_RGD_ID:1599158
8794334	Apoa1	apolipoprotein A1	gene	DOID:9000197	Edema		ISO	RGD:735962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20972769
8794334	Apoa1	apolipoprotein A1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:735962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696|PMID:19424620
8794334	Apoa1	apolipoprotein A1	gene	DOID:9000543	Death		ISO	RGD:735962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20972769
8794334	Apoa1	apolipoprotein A1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:735962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868
8794334	Apoa1	apolipoprotein A1	gene	DOID:9001512	Familial Amyloid Polyneuropathies		ISO	RGD:735962	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial amyloid polyneuropathy type III	PMID:25741868|PMID:28492532
8794334	Apoa1	apolipoprotein A1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2130	D	RGD:9068941	20200609	RGD			PMID:2123716|REF_RGD_ID:1599161
8794334	Apoa1	apolipoprotein A1	gene	DOID:9002117	Hypoalphalipoproteinemias		ISO	RGD:735962	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY	PMID:25741868|PMID:28492532
8794334	Apoa1	apolipoprotein A1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:735962	D	RGD:9068941	20200609	RGD			PMID:9829487|REF_RGD_ID:2313960
8794334	Apoa1	apolipoprotein A1	gene	DOID:9002513	Hypoproteinemia		ISO	RGD:2130	D	RGD:9068941	20200609	RGD			PMID:2123716|REF_RGD_ID:1599161
8794334	Apoa1	apolipoprotein A1	gene	DOID:9002669	Hypoxia		ISO	RGD:735962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18258771
8794334	Apoa1	apolipoprotein A1	gene	DOID:9004283	Transplant Rejection		ISO	RGD:735962	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:21730889|REF_RGD_ID:7241209
8794334	Apoa1	apolipoprotein A1	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:2130	D	RGD:9068941	20200609	RGD			PMID:19561306|REF_RGD_ID:7241869
8794334	Apoa1	apolipoprotein A1	gene	DOID:9004492	Familial Amyloidosis		ISO	RGD:735962	D	RGD:9068941	20200609	RGD			PMID:22495291|REF_RGD_ID:7241855
8794334	Apoa1	apolipoprotein A1	gene	DOID:9004581	Pediatric Obesity		ISO	RGD:735962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25137265
8794334	Apoa1	apolipoprotein A1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:735962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20972769
8794334	Apoa1	apolipoprotein A1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:735962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19180532
8794334	Apoa1	apolipoprotein A1	gene	DOID:9005236	Drug Eruptions		ISO	RGD:735962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21055120
8794334	Apoa1	apolipoprotein A1	gene	DOID:9005372	Inflammation		ISO	RGD:735962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20972769
8794334	Apoa1	apolipoprotein A1	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735962	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-75G>A (human)	PMID:9699897|REF_RGD_ID:1601186
8794334	Apoa1	apolipoprotein A1	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2130	D	RGD:9068941	20200609	RGD			PMID:17488882|REF_RGD_ID:7241577
8794334	Apoa1	apolipoprotein A1	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:2130	D	RGD:9068941	20200609	RGD			PMID:23227448|REF_RGD_ID:7241868
8794334	Apoa1	apolipoprotein A1	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:735962	D	RGD:9068941	20200609	RGD			PMID:18593575|REF_RGD_ID:7241573
8794334	Apoa1	apolipoprotein A1	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:735962	D	RGD:9068941	20200609	RGD			PMID:18535924|REF_RGD_ID:7241574
8794334	Apoa1	apolipoprotein A1	gene	DOID:9006599	Hypertriglyceridemia	no_association	ISO	RGD:735962	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-75G>A	PMID:7910586|REF_RGD_ID:1601187
8794334	Apoa1	apolipoprotein A1	gene	DOID:9006599	Hypertriglyceridemia	treatment	ISO	RGD:2130	D	RGD:9068941	20230831	RGD			PMID:23644946|REF_RGD_ID:401794573
8794334	Apoa1	apolipoprotein A1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:735962	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum (human)	PMID:17217166|REF_RGD_ID:1601183
8794334	Apoa1	apolipoprotein A1	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:735962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18332268
8794334	Apoa1	apolipoprotein A1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:735962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16099942
8794334	Apoa1	apolipoprotein A1	gene	DOID:9007389	Acute Tubulointerstitial Nephritis		ISO	RGD:735962	D	RGD:9068941	20200609	RGD			PMID:22659101|REF_RGD_ID:7241207
8794334	Apoa1	apolipoprotein A1	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:735962	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver, serum (human)	PMID:27015844|REF_RGD_ID:25671432
8794334	Apoa1	apolipoprotein A1	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:735962	D	RGD:9068941	20200609	RGD		protein:decreased expression	PMID:21726101|REF_RGD_ID:5508214
8794334	Apoa1	apolipoprotein A1	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:735962	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma (human)	PMID:25115832|REF_RGD_ID:25671433
8794334	Apoa1	apolipoprotein A1	gene	DOID:9074	systemic lupus erythematosus	severity	ISO	RGD:735962	D	RGD:9068941	20200609	RGD			PMID:20131231|REF_RGD_ID:7241864
8794334	Apoa1	apolipoprotein A1	gene	DOID:9074	systemic lupus erythematosus	treatment	ISO	RGD:10173	D	RGD:9068941	20200609	RGD			PMID:20482780|REF_RGD_ID:7241863
8794334	Apoa1	apolipoprotein A1	gene	DOID:9246	cerebral amyloid angiopathy		ISO	RGD:10173	D	RGD:9068941	20200609	RGD			PMID:20739292|REF_RGD_ID:5508213
8794334	Apoa1	apolipoprotein A1	gene	DOID:9282	ocular hypertension		ISO	RGD:2130	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:18626730|REF_RGD_ID:2303613
8794334	Apoa1	apolipoprotein A1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset	PMID:25741868|PMID:28492532|PMID:3141894
8794334	Apoa1	apolipoprotein A1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735962	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
8794334	Apoa1	apolipoprotein A1	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:2130	D	RGD:9068941	20200609	RGD			PMID:30231880|REF_RGD_ID:25671436
8794334	Apoa1	apolipoprotein A1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:735962	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:9578960|REF_RGD_ID:2313962
8794334	Apoa1	apolipoprotein A1	gene	DOID:9970	obesity		ISO	RGD:10173	D	RGD:9068941	20200609	RGD			PMID:9933608|REF_RGD_ID:2313959
8794334	Apoa1	apolipoprotein A1	gene	DOID:9970	obesity		ISO	RGD:735962	D	RGD:9068941	20200609	RGD		protein:decreased expression	PMID:12725089|REF_RGD_ID:1601185
8794342	Ythdf3	YTH N6-methyladenosine RNA binding protein F3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8794342	Ythdf3	YTH N6-methyladenosine RNA binding protein F3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8794342	Ythdf3	YTH N6-methyladenosine RNA binding protein F3	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1313142	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868
8794342	Ythdf3	YTH N6-methyladenosine RNA binding protein F3	gene	DOID:1115	sarcoma		ISO	RGD:1313142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8794342	Ythdf3	YTH N6-methyladenosine RNA binding protein F3	gene	DOID:1909	melanoma		ISO	RGD:1313142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8794342	Ythdf3	YTH N6-methyladenosine RNA binding protein F3	gene	DOID:2394	ovarian cancer		ISO	RGD:1313142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8794342	Ythdf3	YTH N6-methyladenosine RNA binding protein F3	gene	DOID:3275	thymoma		ISO	RGD:1313142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8794342	Ythdf3	YTH N6-methyladenosine RNA binding protein F3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794342	Ythdf3	YTH N6-methyladenosine RNA binding protein F3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8794342	Ythdf3	YTH N6-methyladenosine RNA binding protein F3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8794359	Pgam2	phosphoglycerate mutase 2	gene	DOID:0061285	glycogen storage disease X		ISO	RGD:68971	D	RGD:7240710	20180130	OMIM			
8794359	Pgam2	phosphoglycerate mutase 2	gene	DOID:0080108	myoglobinuria		ISO	RGD:68971	D	RGD:9068941	20200609	RGD			PMID:8447317|REF_RGD_ID:1599129
8794359	Pgam2	phosphoglycerate mutase 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:68971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8794366	Znf573	zinc finger protein 573	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8794366	Znf573	zinc finger protein 573	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794366	Znf573	zinc finger protein 573	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8794366	Znf573	zinc finger protein 573	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8794379	Heyl	hes related family bHLH transcription factor with YRPW motif like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8794379	Heyl	hes related family bHLH transcription factor with YRPW motif like	gene	DOID:4362	cervical cancer		ISO	RGD:1312805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8794379	Heyl	hes related family bHLH transcription factor with YRPW motif like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794379	Heyl	hes related family bHLH transcription factor with YRPW motif like	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:1305022	D	RGD:9068941	20200609	RGD			PMID:11971902|REF_RGD_ID:625426
8794379	Heyl	hes related family bHLH transcription factor with YRPW motif like	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1312805	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21036696
8794402	Il1a	interleukin 1 alpha	gene	DOID:0050152	aspiration pneumonia		ISO	RGD:2890	D	RGD:9068941	20200609	RGD		protein:increased expression:Bronchoalveolar Lavage Fluid	PMID:18042282|REF_RGD_ID:4142854
8794402	Il1a	interleukin 1 alpha	gene	DOID:0050697	chorioamnionitis		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21493953
8794402	Il1a	interleukin 1 alpha	gene	DOID:0050700	cardiomyopathy		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7979221
8794402	Il1a	interleukin 1 alpha	gene	DOID:0060496	respiratory allergy		ISO	RGD:10789	D	RGD:9068941	20200609	RGD			PMID:12663678|REF_RGD_ID:4143222
8794402	Il1a	interleukin 1 alpha	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21664615
8794402	Il1a	interleukin 1 alpha	gene	DOID:0080642	Middle East respiratory syndrome	onset	ISO	RGD:10789	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:32364527|REF_RGD_ID:27226699
8794402	Il1a	interleukin 1 alpha	gene	DOID:0080745	polymyositis		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7979221
8794402	Il1a	interleukin 1 alpha	gene	DOID:0080784	urinary tract infection		ISO	RGD:10789	D	RGD:9068941	20200609	RGD			PMID:21690238|REF_RGD_ID:6907113
8794402	Il1a	interleukin 1 alpha	gene	DOID:0080784	urinary tract infection		ISO	RGD:2890	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:19171043|REF_RGD_ID:2311084
8794402	Il1a	interleukin 1 alpha	gene	DOID:0081120	Graves ophthalmopathy		ISO	RGD:735707	D	RGD:9068941	20200609	RGD			PMID:8444271|REF_RGD_ID:7794734
8794402	Il1a	interleukin 1 alpha	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-889T>C (rs1800587) (human)	PMID:23645090|REF_RGD_ID:11049180
8794402	Il1a	interleukin 1 alpha	gene	DOID:1002	endometritis		ISO	RGD:2890	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:25330821|REF_RGD_ID:11059518
8794402	Il1a	interleukin 1 alpha	gene	DOID:10126	keratoconus		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs2071376 (human)	PMID:19043479|REF_RGD_ID:7794709
8794402	Il1a	interleukin 1 alpha	gene	DOID:10223	dermatomyositis		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19035492
8794402	Il1a	interleukin 1 alpha	gene	DOID:10327	anthracosis		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20005085
8794402	Il1a	interleukin 1 alpha	gene	DOID:10459	common cold		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal mucus	PMID:10358201|REF_RGD_ID:4143183
8794402	Il1a	interleukin 1 alpha	gene	DOID:10534	stomach cancer		ISO	RGD:735707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8794402	Il1a	interleukin 1 alpha	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		protein:increased expression:microglial cell, cortical layer:	PMID:9775393|REF_RGD_ID:10046059
8794402	Il1a	interleukin 1 alpha	gene	DOID:10652	Alzheimer's disease	disease_progression	ISO	RGD:735707	D	RGD:9068941	20200609	RGD		DNA:SNP:5'UTR:rs1800587(human)	PMID:11402127|REF_RGD_ID:10045947
8794402	Il1a	interleukin 1 alpha	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:735707	D	RGD:9068941	20200609	RGD		DNA:SNP:5'UTR:rs1800587(human)	PMID:19158434|REF_RGD_ID:10045945
8794402	Il1a	interleukin 1 alpha	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:735707	D	RGD:9068941	20200609	RGD			PMID:10716257|REF_RGD_ID:1358667
8794402	Il1a	interleukin 1 alpha	gene	DOID:10754	otitis media		ISO	RGD:2890	D	RGD:9068941	20200609	RGD		associated with Haemophilus Infections;mRNA, protein:increased expression:middle ear	PMID:18524391|REF_RGD_ID:4891398
8794402	Il1a	interleukin 1 alpha	gene	DOID:10914	amnestic disorder		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:8003924
8794402	Il1a	interleukin 1 alpha	gene	DOID:10964	cholesteatoma of middle ear		ISO	RGD:735707	D	RGD:9068941	20200609	RGD			PMID:12768791|PMID:7503375|REF_RGD_ID:11059515|REF_RGD_ID:7794712
8794402	Il1a	interleukin 1 alpha	gene	DOID:11030	corneal edema		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cornea	PMID:7657553|REF_RGD_ID:7794733
8794402	Il1a	interleukin 1 alpha	gene	DOID:11476	osteoporosis		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		associated with Arthritis, Rheumatoid	PMID:10555884|REF_RGD_ID:6907107
8794402	Il1a	interleukin 1 alpha	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:10789	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain:	PMID:8790403|REF_RGD_ID:10045948
8794402	Il1a	interleukin 1 alpha	gene	DOID:12241	beta thalassemia		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:blood, mononuclear cell	PMID:21576933|REF_RGD_ID:11051969
8794402	Il1a	interleukin 1 alpha	gene	DOID:12306	vitiligo		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28836394
8794402	Il1a	interleukin 1 alpha	gene	DOID:12306	vitiligo		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		protein:increased expression:skin	PMID:16911396|REF_RGD_ID:7794736
8794402	Il1a	interleukin 1 alpha	gene	DOID:12337	varicocele		ISO	RGD:2890	D	RGD:9068941	20200609	RGD		protein:increased expression:testis	PMID:16616101|REF_RGD_ID:2311094
8794402	Il1a	interleukin 1 alpha	gene	DOID:12554	hemolytic-uremic syndrome		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15384034
8794402	Il1a	interleukin 1 alpha	gene	DOID:12558	chronic progressive external ophthalmoplegia		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7979221
8794402	Il1a	interleukin 1 alpha	gene	DOID:12934	Kearns-Sayre syndrome		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7979221
8794402	Il1a	interleukin 1 alpha	gene	DOID:13141	uveitis		ISO	RGD:2890	D	RGD:9068941	20200609	RGD			PMID:8125721|REF_RGD_ID:7401166
8794402	Il1a	interleukin 1 alpha	gene	DOID:13166	allergic bronchopulmonary aspergillosis		ISO	RGD:10789	D	RGD:9068941	20200609	RGD			PMID:8699818|REF_RGD_ID:7794730
8794402	Il1a	interleukin 1 alpha	gene	DOID:13250	diarrhea		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9278552
8794402	Il1a	interleukin 1 alpha	gene	DOID:13580	cholestasis		ISO	RGD:2890	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:19535096|REF_RGD_ID:2311076
8794402	Il1a	interleukin 1 alpha	gene	DOID:14499	Fabry disease		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-889C>T (human)	PMID:17353161|REF_RGD_ID:6907117
8794402	Il1a	interleukin 1 alpha	gene	DOID:1485	cystic fibrosis	severity	ISO	RGD:735707	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:8333775|REF_RGD_ID:4142849
8794402	Il1a	interleukin 1 alpha	gene	DOID:1790	malignant mesothelioma		ISO	RGD:735707	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
8794402	Il1a	interleukin 1 alpha	gene	DOID:1793	pancreatic cancer		ISO	RGD:735707	D	RGD:9068941	20200609	RGD			PMID:7787209|REF_RGD_ID:2311069
8794402	Il1a	interleukin 1 alpha	gene	DOID:2316	brain ischemia		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15829914
8794402	Il1a	interleukin 1 alpha	gene	DOID:2841	asthma		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :	PMID:18763028|REF_RGD_ID:4142802
8794402	Il1a	interleukin 1 alpha	gene	DOID:2921	glomerulonephritis		ISO	RGD:10789	D	RGD:9068941	20200609	RGD		associated with Malaria	PMID:10469263|REF_RGD_ID:6907108
8794402	Il1a	interleukin 1 alpha	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:10789	D	RGD:9068941	20200609	RGD		mRNA:altered expression:lung (mouse)	PMID:32364527|REF_RGD_ID:27226699
8794402	Il1a	interleukin 1 alpha	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:10789	D	RGD:9068941	20200609	RGD			PMID:9176116|REF_RGD_ID:4142835
8794402	Il1a	interleukin 1 alpha	gene	DOID:2986	IgA glomerulonephritis	no_association	ISO	RGD:735707	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter	PMID:21049406|REF_RGD_ID:6907116
8794402	Il1a	interleukin 1 alpha	gene	DOID:3021	acute kidney failure		ISO	RGD:10789	D	RGD:9068941	20200609	RGD			PMID:21716595|REF_RGD_ID:6907069
8794402	Il1a	interleukin 1 alpha	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23178550
8794402	Il1a	interleukin 1 alpha	gene	DOID:3082	interstitial lung disease		ISO	RGD:2890	D	RGD:9068941	20200609	RGD		associated with Immune Complex Diseases	PMID:1826836|REF_RGD_ID:7794767
8794402	Il1a	interleukin 1 alpha	gene	DOID:3082	interstitial lung disease	susceptibility	ISO	RGD:735707	D	RGD:9068941	20200609	RGD		associated with sclerosis: DNA:SNPs:5' UTR, exon, intron:	PMID:12528118|REF_RGD_ID:4142806
8794402	Il1a	interleukin 1 alpha	gene	DOID:310	MERRF Syndrome		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7979221
8794402	Il1a	interleukin 1 alpha	gene	DOID:3687	MELAS syndrome		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7979221
8794402	Il1a	interleukin 1 alpha	gene	DOID:37	skin disease		ISO	RGD:10789	D	RGD:9068941	20200609	RGD			PMID:8524866|REF_RGD_ID:7794729
8794402	Il1a	interleukin 1 alpha	gene	DOID:37	skin disease		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338|PMID:22533443
8794402	Il1a	interleukin 1 alpha	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:2890	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:alveolar macrophage	PMID:9100454|REF_RGD_ID:4142838
8794402	Il1a	interleukin 1 alpha	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		idiopathic pulmonary fibrosis; DNA:polymorphism:promoter:	PMID:17309781|REF_RGD_ID:4142803
8794402	Il1a	interleukin 1 alpha	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		DNA:SNPs: :	PMID:19505916|REF_RGD_ID:4142793
8794402	Il1a	interleukin 1 alpha	gene	DOID:4109	tick infestation		ISO	RGD:10789	D	RGD:9068941	20200609	RGD			PMID:7835923|REF_RGD_ID:7794724
8794402	Il1a	interleukin 1 alpha	gene	DOID:4195	hyperglycemia		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma	PMID:18211631|REF_RGD_ID:2311062
8794402	Il1a	interleukin 1 alpha	gene	DOID:4371	Schnitzler syndrome		ISO	RGD:735707	D	RGD:9068941	20200609	RGD			PMID:1831824|REF_RGD_ID:7794711
8794402	Il1a	interleukin 1 alpha	gene	DOID:4545	mesenchymal chondrosarcoma		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12817616
8794402	Il1a	interleukin 1 alpha	gene	DOID:552	pneumonia		ISO	RGD:2890	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:8806881|REF_RGD_ID:7794765
8794402	Il1a	interleukin 1 alpha	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27738319
8794402	Il1a	interleukin 1 alpha	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8794402	Il1a	interleukin 1 alpha	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-889C>T (human)	PMID:8162643|REF_RGD_ID:7794716
8794402	Il1a	interleukin 1 alpha	gene	DOID:699	mitochondrial myopathy		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7979221
8794402	Il1a	interleukin 1 alpha	gene	DOID:705	Leber hereditary optic neuropathy		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7979221
8794402	Il1a	interleukin 1 alpha	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		associated with lung disease, interstitial	PMID:11192540|REF_RGD_ID:4142818
8794402	Il1a	interleukin 1 alpha	gene	DOID:7148	rheumatoid arthritis	severity	ISO	RGD:735707	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma, synovial fluid	PMID:8162643|REF_RGD_ID:7794716
8794402	Il1a	interleukin 1 alpha	gene	DOID:783	end stage renal disease		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		DNA:SNP, insertion/deletion:intron, 3' utr:rs1516792-3, rs16347-2 (human)	PMID:12837270|REF_RGD_ID:6907105
8794402	Il1a	interleukin 1 alpha	gene	DOID:783	end stage renal disease		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		DNA:SNPs, deletion, haplotypes:3' utr:multiple (human)	PMID:12631337|REF_RGD_ID:6907106
8794402	Il1a	interleukin 1 alpha	gene	DOID:783	end stage renal disease	no_association	ISO	RGD:735707	D	RGD:9068941	20200609	RGD		DNA:SNP	PMID:20551628|REF_RGD_ID:6907070
8794402	Il1a	interleukin 1 alpha	gene	DOID:824	periodontitis		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		mRNA:increased expression:gingiva	PMID:22795294|REF_RGD_ID:6906881
8794402	Il1a	interleukin 1 alpha	gene	DOID:8398	osteoarthritis		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		protein:increased expression:chonodrocyte:	PMID:9497936|REF_RGD_ID:10047053
8794402	Il1a	interleukin 1 alpha	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:10789	D	RGD:9068941	20200609	RGD		protein:increased expression:Bronchoalveolar Lavage Fluid	PMID:10882225|REF_RGD_ID:4142832
8794402	Il1a	interleukin 1 alpha	gene	DOID:850	lung disease		ISO	RGD:10789	D	RGD:9068941	20200609	RGD		lung injury; mRNA:increased expression:lung	PMID:12377989|PMID:12745880|REF_RGD_ID:4142805|REF_RGD_ID:4142809
8794402	Il1a	interleukin 1 alpha	gene	DOID:850	lung disease		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		radiation pneumonitis; protein:increased expression:plasma	PMID:11917281|REF_RGD_ID:4142811
8794402	Il1a	interleukin 1 alpha	gene	DOID:869	cholesteatoma		ISO	RGD:735707	D	RGD:9068941	20200609	RGD			PMID:1384343|REF_RGD_ID:7401205
8794402	Il1a	interleukin 1 alpha	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-899C>T (human)	PMID:21591983|REF_RGD_ID:11051966
8794402	Il1a	interleukin 1 alpha	gene	DOID:8947	diabetic retinopathy		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor	PMID:18978347|REF_RGD_ID:2307061
8794402	Il1a	interleukin 1 alpha	gene	DOID:9000046	Poisoning	treatment	ISO	RGD:10789	D	RGD:9068941	20200609	RGD			PMID:1868253|REF_RGD_ID:11051971
8794402	Il1a	interleukin 1 alpha	gene	DOID:9000046	Poisoning	treatment	ISO	RGD:735707	D	RGD:9068941	20200609	RGD			PMID:2258610|REF_RGD_ID:11059514
8794402	Il1a	interleukin 1 alpha	gene	DOID:9000111	Radiation Injuries		ISO	RGD:2890	D	RGD:9068941	20200609	RGD			PMID:7938676|REF_RGD_ID:7794763
8794402	Il1a	interleukin 1 alpha	gene	DOID:9000540	HIV Wasting Syndrome		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7979221
8794402	Il1a	interleukin 1 alpha	gene	DOID:9000918	Disease Progression		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27738319
8794402	Il1a	interleukin 1 alpha	gene	DOID:9000972	Fever		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15384034
8794402	Il1a	interleukin 1 alpha	gene	DOID:9000998	Brain Injuries		ISO	RGD:2890	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:cerebral cortex	PMID:16024175|REF_RGD_ID:2311098
8794402	Il1a	interleukin 1 alpha	gene	DOID:9000998	Brain Injuries		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21549006
8794402	Il1a	interleukin 1 alpha	gene	DOID:9001109	Anorexia		ISO	RGD:2890	D	RGD:9068941	20200609	RGD		associated with Sarcoma, Experimental;protein:increased expression:cerebrospinal fluid	PMID:8748250|REF_RGD_ID:7794755
8794402	Il1a	interleukin 1 alpha	gene	DOID:9001472	Nasal Polyps		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon:	PMID:17638785|REF_RGD_ID:4142855
8794402	Il1a	interleukin 1 alpha	gene	DOID:9001472	Nasal Polyps	susceptibility	ISO	RGD:735707	D	RGD:9068941	20200609	RGD		associated with asthma; DNA:polymorphism:exon:	PMID:12752325|REF_RGD_ID:4142804
8794402	Il1a	interleukin 1 alpha	gene	DOID:9001488	Human Influenza		ISO	RGD:10789	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:11535264|REF_RGD_ID:4142860
8794402	Il1a	interleukin 1 alpha	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:2890	D	RGD:9068941	20200609	RGD			PMID:18638276|REF_RGD_ID:2311088
8794402	Il1a	interleukin 1 alpha	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:2890	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:15580020|REF_RGD_ID:2311100
8794402	Il1a	interleukin 1 alpha	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:2890	D	RGD:9068941	20200609	RGD			PMID:7890488|REF_RGD_ID:7401191
8794402	Il1a	interleukin 1 alpha	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:2890	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:19595018|REF_RGD_ID:2314952
8794402	Il1a	interleukin 1 alpha	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:2890	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19283466|REF_RGD_ID:6907377
8794402	Il1a	interleukin 1 alpha	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:2890	D	RGD:9068941	20200609	RGD			PMID:9840148|REF_RGD_ID:11059517
8794402	Il1a	interleukin 1 alpha	gene	DOID:9002211	Hyperalgesia		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12727271
8794402	Il1a	interleukin 1 alpha	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:735707	D	RGD:9068941	20200609	RGD			PMID:19074885|REF_RGD_ID:11051968
8794402	Il1a	interleukin 1 alpha	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		mRNA:increased expression:placenta	PMID:11005132|REF_RGD_ID:2311066
8794402	Il1a	interleukin 1 alpha	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:10789	D	RGD:9068941	20200609	RGD			PMID:9497937|REF_RGD_ID:10046057
8794402	Il1a	interleukin 1 alpha	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:2890	D	RGD:9068941	20200609	RGD		protein:increased expression:cartilage cell:	PMID:24534736|REF_RGD_ID:10045944
8794402	Il1a	interleukin 1 alpha	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:735707	D	RGD:9068941	20200609	RGD			PMID:9034998|REF_RGD_ID:10045946
8794402	Il1a	interleukin 1 alpha	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2890	D	RGD:9068941	20200609	RGD			PMID:20379758|REF_RGD_ID:6907373
8794402	Il1a	interleukin 1 alpha	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2890	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:19169271|REF_RGD_ID:8662976
8794402	Il1a	interleukin 1 alpha	gene	DOID:9002805	Enterocolitis		ISO	RGD:2890	D	RGD:9068941	20200609	RGD			PMID:8144001|REF_RGD_ID:2311103
8794402	Il1a	interleukin 1 alpha	gene	DOID:9003036	Oral Lichen Planus	treatment	ISO	RGD:735707	D	RGD:9068941	20200609	RGD			PMID:16476030|REF_RGD_ID:7794728
8794402	Il1a	interleukin 1 alpha	gene	DOID:9003219	Invasive Pulmonary Aspergillosis		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		DNA:polymorphism, haplotype:promoter:-889C>T (human)	PMID:18484169|REF_RGD_ID:4142867
8794402	Il1a	interleukin 1 alpha	gene	DOID:9003657	Perennial Allergic Rhinitis		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:c.4845G>T (human)	PMID:14533660|REF_RGD_ID:4142859
8794402	Il1a	interleukin 1 alpha	gene	DOID:9003730	Chemical Burns		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22533443
8794402	Il1a	interleukin 1 alpha	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:2890	D	RGD:9068941	20200609	RGD			PMID:17651586|REF_RGD_ID:2311092
8794402	Il1a	interleukin 1 alpha	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23875703
8794402	Il1a	interleukin 1 alpha	gene	DOID:9004118	Experimental Melanoma	treatment	ISO	RGD:10789	D	RGD:9068941	20200609	RGD			PMID:8061895|REF_RGD_ID:7794735
8794402	Il1a	interleukin 1 alpha	gene	DOID:9004441	Experimental Leukemia	treatment	ISO	RGD:10789	D	RGD:9068941	20200609	RGD			PMID:2117483|REF_RGD_ID:11051972
8794402	Il1a	interleukin 1 alpha	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8435107
8794402	Il1a	interleukin 1 alpha	gene	DOID:9004486	Drug-induced Neutropenia	treatment	ISO	RGD:735707	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Non-Small-Cell Lung	PMID:7666093|REF_RGD_ID:11051963
8794402	Il1a	interleukin 1 alpha	gene	DOID:9004593	Drug-Induced Immune Thrombocytopenia	treatment	ISO	RGD:735707	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Non-Small-Cell Lung	PMID:7666093|REF_RGD_ID:11051963
8794402	Il1a	interleukin 1 alpha	gene	DOID:9004593	Drug-Induced Immune Thrombocytopenia	treatment	ISO	RGD:735707	D	RGD:9068941	20200609	RGD		associated with Ovarian Neoplasms	PMID:8151314|REF_RGD_ID:11051964
8794402	Il1a	interleukin 1 alpha	gene	DOID:9004649	Heat Stroke		ISO	RGD:2890	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19295493|REF_RGD_ID:6907071
8794402	Il1a	interleukin 1 alpha	gene	DOID:9004649	Heat Stroke		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24039931
8794402	Il1a	interleukin 1 alpha	gene	DOID:9005372	Inflammation		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21467745|PMID:22163019
8794402	Il1a	interleukin 1 alpha	gene	DOID:9005372	Inflammation		ISO	RGD:735707	D	RGD:9068941	20200609	RGD			PMID:2636224|REF_RGD_ID:7794766
8794402	Il1a	interleukin 1 alpha	gene	DOID:9005372	Inflammation	treatment	ISO	RGD:10789	D	RGD:9068941	20200609	RGD			PMID:8761432|REF_RGD_ID:7794725
8794402	Il1a	interleukin 1 alpha	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2890	D	RGD:9068941	20200609	RGD		protein:increased expression:heart	PMID:20555424|REF_RGD_ID:4142788
8794402	Il1a	interleukin 1 alpha	gene	DOID:9005930	Endotoxemia		ISO	RGD:10789	D	RGD:9068941	20200609	RGD			PMID:9636192|REF_RGD_ID:6907109
8794402	Il1a	interleukin 1 alpha	gene	DOID:9005930	Endotoxemia		ISO	RGD:2890	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:22426124|REF_RGD_ID:7794786
8794402	Il1a	interleukin 1 alpha	gene	DOID:9006024	Hypotension		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15384034
8794402	Il1a	interleukin 1 alpha	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8794402	Il1a	interleukin 1 alpha	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:8218930
8794402	Il1a	interleukin 1 alpha	gene	DOID:9007621	Craniocerebral Trauma		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		protein:increased expression:microglial cell	PMID:7830934|REF_RGD_ID:10045949
8794402	Il1a	interleukin 1 alpha	gene	DOID:9007730	Burns		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10431976
8794402	Il1a	interleukin 1 alpha	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2890	D	RGD:9068941	20200609	RGD			PMID:7622355|REF_RGD_ID:7794764
8794402	Il1a	interleukin 1 alpha	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:735707	D	RGD:9068941	20200609	RGD			PMID:8576926|REF_RGD_ID:7794741
8794402	Il1a	interleukin 1 alpha	gene	DOID:9007896	Sclerosis	susceptibility	ISO	RGD:735707	D	RGD:9068941	20200609	RGD		DNA:SNPs:5' UTR, exon, intron:	PMID:12528118|REF_RGD_ID:4142806
8794402	Il1a	interleukin 1 alpha	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:735707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8794402	Il1a	interleukin 1 alpha	gene	DOID:9008217	Hemorrhage		ISO	RGD:2890	D	RGD:9068941	20200609	RGD			PMID:9326742|REF_RGD_ID:11059516
8794402	Il1a	interleukin 1 alpha	gene	DOID:9008604	Radiation Pneumonitis	susceptibility	ISO	RGD:735707	D	RGD:9068941	20200609	RGD		associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1800587,rs17561(human)	PMID:20811626|REF_RGD_ID:5131286
8794402	Il1a	interleukin 1 alpha	gene	DOID:9008763	Femoral Fractures		ISO	RGD:2890	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, serum	PMID:21442011|REF_RGD_ID:5131471
8794402	Il1a	interleukin 1 alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8794402	Il1a	interleukin 1 alpha	gene	DOID:9119	acute myeloid leukemia	treatment	ISO	RGD:735707	D	RGD:9068941	20200609	RGD			PMID:2460157|REF_RGD_ID:11051965
8794402	Il1a	interleukin 1 alpha	gene	DOID:9383	iridocyclitis		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		associated with Arthritis, Juvenile;DNA:SNP:promoter:-889C>T (human)	PMID:8162643|REF_RGD_ID:7794716
8794402	Il1a	interleukin 1 alpha	gene	DOID:9538	multiple myeloma		ISO	RGD:10789	D	RGD:9068941	20200609	RGD			PMID:1777241|REF_RGD_ID:11059513
8794402	Il1a	interleukin 1 alpha	gene	DOID:9538	multiple myeloma		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-511C>T (human)	PMID:25469832|REF_RGD_ID:11049156
8794402	Il1a	interleukin 1 alpha	gene	DOID:9538	multiple myeloma		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-889C>T (human)	PMID:17926179|REF_RGD_ID:11051973
8794402	Il1a	interleukin 1 alpha	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:10789	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreatic islet, leukocyte	PMID:8612552|REF_RGD_ID:2311067
8794402	Il1a	interleukin 1 alpha	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:735707	D	RGD:9068941	20200609	RGD			PMID:17953531|PMID:2405400|REF_RGD_ID:2311064|REF_RGD_ID:2311075
8794402	Il1a	interleukin 1 alpha	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:735707	D	RGD:9068941	20200609	RGD		protein:increased expression:small intestine mucosa	PMID:12941768|REF_RGD_ID:2311065
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:0040084	Streptococcus pneumonia	exacerbates	ISO	RGD:1558468	D	RGD:9068941	20210226	RGD			PMID:15263032|REF_RGD_ID:41412189
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:0080176	meningococcal meningitis		ISO	RGD:1589662	D	RGD:9068941	20210226	RGD		protein:increased expression:sub-cortical, meninges, astrocyte	PMID:21299846|REF_RGD_ID:41412190
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:0080600	COVID-19		ISO	RGD:1349062	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:10325	silicosis	treatment	ISO	RGD:1589662	D	RGD:9068941	20210226	RGD			PMID:30391304|REF_RGD_ID:41412200
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:10534	stomach cancer		ISO	RGD:1349062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:1115	sarcoma		ISO	RGD:1349062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:12053	cryptococcosis	disease_progression	ISO	RGD:1558468	D	RGD:9068941	20210226	RGD			PMID:28298522|REF_RGD_ID:41412191
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:1273	respiratory syncytial virus infectious disease	severity	ISO	RGD:1605396	D	RGD:9068941	20260108	RGD		DNA:SNP:promoter:rs1318645	PMID:32740454|REF_RGD_ID:629146885
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:1273	respiratory syncytial virus infectious disease	severity	ISO	RGD:1605396,RGD:1353561	D	RGD:9068941	20260108	RGD		DNA:SNP:promoter:rs1318645	PMID:32740454|REF_RGD_ID:629146885
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:1324	lung cancer		ISO	RGD:1349062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:1909	melanoma		ISO	RGD:1349062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1349062	D	RGD:9068941	20210226	RGD		DNA:SNP: :rs12998782(human)	PMID:28693442|REF_RGD_ID:41412192
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1349062	D	RGD:9068941	20210226	RGD		DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human)	PMID:27853145|REF_RGD_ID:41412194
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1349062	D	RGD:9068941	20210226	RGD		DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human)	PMID:23617307|REF_RGD_ID:41412195
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:4362	cervical cancer		ISO	RGD:1349062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349062	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:9000113	Pneumococcal Meningitis		ISO	RGD:1589662	D	RGD:9068941	20210226	RGD		protein:increased expression:meninges, astrocyte	PMID:21299846|REF_RGD_ID:41412190
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:9000371	influenza A	ameliorates	ISO	RGD:1558468	D	RGD:9068941	20210226	RGD			PMID:21562316|REF_RGD_ID:41412197
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:9006732	Clostridium Infections	exacerbates	ISO	RGD:1558468	D	RGD:9068941	20210226	RGD			PMID:20810988|REF_RGD_ID:41412193
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:9008559	Bacterial Lung Diseases	disease_progression	ISO	RGD:1558468	D	RGD:9068941	20210226	RGD		association with Cryptococcal neoformans infection.	PMID:28298522|REF_RGD_ID:41412191
8794413	Marco	macrophage receptor with collagenous structure	gene	DOID:9351	diabetes mellitus		ISO	RGD:1558468	D	RGD:9068941	20210226	RGD		protein:decreased expression:Alveolar macrophage	PMID:27630197|REF_RGD_ID:41412199
8794434	Khdrbs2	KH RNA binding domain containing, signal transduction associated 2	gene	DOID:1115	sarcoma		ISO	RGD:1349535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8794434	Khdrbs2	KH RNA binding domain containing, signal transduction associated 2	gene	DOID:1909	melanoma		ISO	RGD:1349535	D	RGD:9068941	20250820	CTD		CTD Direct Evidence: marker/mechanism	PMID:21499247
8794434	Khdrbs2	KH RNA binding domain containing, signal transduction associated 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1349535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8794434	Khdrbs2	KH RNA binding domain containing, signal transduction associated 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1349535	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8794434	Khdrbs2	KH RNA binding domain containing, signal transduction associated 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794446	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8794446	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:0110432	dilated cardiomyopathy 1NN		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1NN	PMID:25741868
8794446	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:0112315	brain small vessel disease 3		ISO	RGD:1344980	D	RGD:7240710	20190911	OMIM			
8794446	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:0112315	brain small vessel disease 3		ISO	RGD:1344980	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 3 | ClinVar Annotator: match by term: Brain small vessel disease 3 | ClinVar Annotator: match by term: COLGALT1-related condition | ClinVar Annotator: match by term: brain small vessel disease 3	PMID:25741868|PMID:28492532
8794446	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8794446	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8794446	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:1115	sarcoma		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8794446	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8794446	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8794446	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1344980	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8794446	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8794446	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794446	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:33077954
8794446	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:8725	vascular dementia		ISO	RGD:1344980	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:35307828
8794446	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8794446	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8794491	Adm2	adrenomedullin 2	gene	DOID:178	vascular disease		ISO	RGD:1348112	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19910445
8794491	Adm2	adrenomedullin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794491	Adm2	adrenomedullin 2	gene	DOID:864	phlebitis		ISO	RGD:1348112	D	RGD:9068941	20230803	CTD		CTD Direct Evidence: therapeutic	PMID:34434487
8794491	Adm2	adrenomedullin 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1348112	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16987513
8794498	Brinp1	BMP/retinoic acid inducible neural specific 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:734244	D	RGD:9068941	20220825	MouseDO			
8794498	Brinp1	BMP/retinoic acid inducible neural specific 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:734244	D	RGD:9068941	20220825	MouseDO		OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003	
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:0060058	lymphoma		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:0060249	scoliosis		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:0060260	ptosis		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:0080572	congenital disorder of glycosylation Iw		ISO	RGD:1342989	D	RGD:7240710	20180130	OMIM			
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:0080572	congenital disorder of glycosylation Iw		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1w | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Iw, autosomal dominant | ClinVar Annotator: match by term: STT3A-related condition	PMID:23842455|PMID:25741868|PMID:28424003|PMID:28492532|PMID:29892012|PMID:34653363
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:0080600	COVID-19		ISO	RGD:1342989	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:10534	stomach cancer		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:10907	microcephaly		ISO	RGD:1342989	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:1324	lung cancer		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:1682	congenital heart disease		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:1826	epilepsy		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:1969	cerebral palsy		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:2841	asthma		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:3070	high grade glioma		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:25741868|PMID:28492532
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:423	myopathy		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:4362	cervical cancer		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:540	strabismus		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:6039	uveal melanoma		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:630	genetic disease		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23842455|PMID:25741868|PMID:28492532|PMID:34653363
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:9003760	Myalgia		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:9007661	Dwarfism		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8794526	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:9840	esotropia		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
8794548	Itgb3bp	integrin subunit beta 3 binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8794548	Itgb3bp	integrin subunit beta 3 binding protein	gene	DOID:1059	intellectual disability		ISO	RGD:1320718	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8794548	Itgb3bp	integrin subunit beta 3 binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8794548	Itgb3bp	integrin subunit beta 3 binding protein	gene	DOID:289	endometriosis		ISO	RGD:1320718	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
8794548	Itgb3bp	integrin subunit beta 3 binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1320718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8794548	Itgb3bp	integrin subunit beta 3 binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1320718	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8794548	Itgb3bp	integrin subunit beta 3 binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794548	Itgb3bp	integrin subunit beta 3 binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8794561	Napb	NSF attachment protein beta	gene	DOID:0070393	developmental and epileptic encephalopathy 107		ISO	RGD:1317299	D	RGD:7240710	20220921	OMIM			
8794561	Napb	NSF attachment protein beta	gene	DOID:0070393	developmental and epileptic encephalopathy 107		ISO	RGD:1317299	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy-107	PMID:25741868
8794561	Napb	NSF attachment protein beta	gene	DOID:10283	prostate cancer		ISO	RGD:1317299	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8794561	Napb	NSF attachment protein beta	gene	DOID:10283	prostate cancer		ISO	RGD:1317299	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8794561	Napb	NSF attachment protein beta	gene	DOID:10534	stomach cancer		ISO	RGD:1317299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8794561	Napb	NSF attachment protein beta	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1317299	D	RGD:9068941	20200609	RGD		protein:decreased expression:temporal cortex	PMID:11244216|REF_RGD_ID:10412652
8794561	Napb	NSF attachment protein beta	gene	DOID:1115	sarcoma		ISO	RGD:1317299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8794561	Napb	NSF attachment protein beta	gene	DOID:1324	lung cancer		ISO	RGD:1317299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8794561	Napb	NSF attachment protein beta	gene	DOID:14250	Down syndrome		ISO	RGD:1317299	D	RGD:9068941	20200609	RGD		protein:decreased expression:temporal cortex	PMID:11244216|REF_RGD_ID:10412652
8794561	Napb	NSF attachment protein beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794561	Napb	NSF attachment protein beta	gene	DOID:630	genetic disease		ISO	RGD:1317299	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8794561	Napb	NSF attachment protein beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8794561	Napb	NSF attachment protein beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8794561	Napb	NSF attachment protein beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8794582	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8794582	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:1115	sarcoma		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8794582	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:1909	melanoma		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8794582	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8794582	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:4362	cervical cancer		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8794582	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8794582	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:5041	esophageal cancer		ISO	RGD:1315485	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8794582	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8794582	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8794582	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8794582	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8794623	Shisa3	shisa family member 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2292184	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8794623	Shisa3	shisa family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2292184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8794629	Spag4	sperm associated antigen 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8794629	Spag4	sperm associated antigen 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8794629	Spag4	sperm associated antigen 4	gene	DOID:3070	high grade glioma		ISO	RGD:734255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8794629	Spag4	sperm associated antigen 4	gene	DOID:4362	cervical cancer		ISO	RGD:734255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8794629	Spag4	sperm associated antigen 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794629	Spag4	sperm associated antigen 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8794662	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8794662	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8794662	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:0080496	ovarian dysgenesis 4		ISO	RGD:1313696	D	RGD:7240710	20180130	OMIM			
8794662	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:0080496	ovarian dysgenesis 4		ISO	RGD:1313696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MCM9-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS 4	PMID:28492532
8794662	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:0080857	primary ovarian insufficiency 1		ISO	RGD:1313696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure 1	PMID:25741868
8794662	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8794662	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:1115	sarcoma		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8794662	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:11476	osteoporosis		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:31042289
8794662	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:1324	lung cancer		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8794662	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:1909	melanoma		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8794662	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:1924	hypogonadism		ISO	RGD:1313696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypergonadotropic hypogonadism	PMID:25741868|PMID:31042289
8794662	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8794662	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1313696	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8794662	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
8794662	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794662	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:630	genetic disease		ISO	RGD:1313696	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8794662	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:630	genetic disease		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8794662	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8794662	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8794662	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8794662	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8794662	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:9256	colorectal cancer		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8794679	Lmtk1	lemur tail kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8794679	Lmtk1	lemur tail kinase 1	gene	DOID:1909	melanoma		ISO	RGD:1317702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8794679	Lmtk1	lemur tail kinase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8794679	Lmtk1	lemur tail kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317702	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8794679	Lmtk1	lemur tail kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794679	Lmtk1	lemur tail kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8794679	Lmtk1	lemur tail kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8794679	Lmtk1	lemur tail kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8794679	Lmtk1	lemur tail kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8794718	Wdr1	WD repeat domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
8794718	Wdr1	WD repeat domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8794718	Wdr1	WD repeat domain 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1314033	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
8794718	Wdr1	WD repeat domain 1	gene	DOID:0061034	autosomal dominant intellectual developmental disorder 61		ISO	RGD:1314033	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61	
8794718	Wdr1	WD repeat domain 1	gene	DOID:1115	sarcoma		ISO	RGD:1314033	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8794718	Wdr1	WD repeat domain 1	gene	DOID:11476	osteoporosis		ISO	RGD:1314033	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
8794718	Wdr1	WD repeat domain 1	gene	DOID:1324	lung cancer		ISO	RGD:1314033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8794718	Wdr1	WD repeat domain 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1314033	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17515402
8794718	Wdr1	WD repeat domain 1	gene	DOID:1909	melanoma		ISO	RGD:1314033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8794718	Wdr1	WD repeat domain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8794718	Wdr1	WD repeat domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794718	Wdr1	WD repeat domain 1	gene	DOID:630	genetic disease		ISO	RGD:1314033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8794718	Wdr1	WD repeat domain 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8794718	Wdr1	WD repeat domain 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8794718	Wdr1	WD repeat domain 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314033	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8794718	Wdr1	WD repeat domain 1	gene	DOID:9005372	Inflammation		ISO	RGD:1314033	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17515402
8794718	Wdr1	WD repeat domain 1	gene	DOID:9005933	Lazy Leukocyte Syndrome		ISO	RGD:1314033	D	RGD:7240710	20200812	OMIM			
8794718	Wdr1	WD repeat domain 1	gene	DOID:9005933	Lazy Leukocyte Syndrome		ISO	RGD:1314033	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Lazy leukocyte syndrome | ClinVar Annotator: match by term: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME | ClinVar Annotator: match by term: WDR1-related condition	PMID:25741868|PMID:27557945|PMID:28492532
8794718	Wdr1	WD repeat domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8794739	Parp8	poly(ADP-ribose) polymerase family member 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8794739	Parp8	poly(ADP-ribose) polymerase family member 8	gene	DOID:10534	stomach cancer		ISO	RGD:1350347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8794739	Parp8	poly(ADP-ribose) polymerase family member 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8794739	Parp8	poly(ADP-ribose) polymerase family member 8	gene	DOID:1115	sarcoma		ISO	RGD:1350347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8794739	Parp8	poly(ADP-ribose) polymerase family member 8	gene	DOID:1324	lung cancer		ISO	RGD:1350347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8794739	Parp8	poly(ADP-ribose) polymerase family member 8	gene	DOID:1909	melanoma		ISO	RGD:1350347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8794739	Parp8	poly(ADP-ribose) polymerase family member 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8794739	Parp8	poly(ADP-ribose) polymerase family member 8	gene	DOID:3275	thymoma		ISO	RGD:1350347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8794739	Parp8	poly(ADP-ribose) polymerase family member 8	gene	DOID:4362	cervical cancer		ISO	RGD:1350347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8794739	Parp8	poly(ADP-ribose) polymerase family member 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8794739	Parp8	poly(ADP-ribose) polymerase family member 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8794739	Parp8	poly(ADP-ribose) polymerase family member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794739	Parp8	poly(ADP-ribose) polymerase family member 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8794739	Parp8	poly(ADP-ribose) polymerase family member 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8794739	Parp8	poly(ADP-ribose) polymerase family member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8794739	Parp8	poly(ADP-ribose) polymerase family member 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8794739	Parp8	poly(ADP-ribose) polymerase family member 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8794771	Polr2k	RNA polymerase II, I and III subunit K	gene	DOID:1324	lung cancer		ISO	RGD:1352672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8794771	Polr2k	RNA polymerase II, I and III subunit K	gene	DOID:2394	ovarian cancer		ISO	RGD:1352672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8794771	Polr2k	RNA polymerase II, I and III subunit K	gene	DOID:4362	cervical cancer		ISO	RGD:1352672	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8794771	Polr2k	RNA polymerase II, I and III subunit K	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8794771	Polr2k	RNA polymerase II, I and III subunit K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0014667	disease of metabolism		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic disease	
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26556829|PMID:27016404|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1347040	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0060197	amyotrophic lateral sclerosis type 5		ISO	RGD:1347040	D	RGD:7240710	20180130	OMIM			
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0060197	amyotrophic lateral sclerosis type 5		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5	PMID:16199547|PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:20110243|PMID:20301389|PMID:20571989|PMID:21035867|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:23221952|PMID:23443022|PMID:23733235|PMID:23881933|PMID:24033266|PMID:24315199|PMID:24451228|PMID:24794856|PMID:24833714|PMID:25299611|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27084228|PMID:27217339|PMID:27790088|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29691679|PMID:29908077|PMID:29934652|PMID:29946510|PMID:29980238|PMID:30363882|PMID:30476097|PMID:30564185|PMID:30574063|PMID:31289639|PMID:31407473|PMID:31589614|PMID:31900114|PMID:32019516|PMID:32397312|PMID:32483926|PMID:32579787|PMID:32671691|PMID:32709422|PMID:32987860|PMID:33059505|PMID:33098801|PMID:33589474|PMID:33600046|PMID:33624863|PMID:34153142|PMID:34906502|PMID:34944995|PMID:35254204|PMID:35617747|PMID:35906604|PMID:36139378|PMID:37223130|PMID:37712079
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0060898	Parkinson's disease 20		ISO	RGD:1347040	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Early-onset Parkinson disease 20	PMID:19105190|PMID:20110243|PMID:22154821|PMID:23733235|PMID:25741868|PMID:26556829|PMID:28492532|PMID:31589614|PMID:33059505
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26556829|PMID:27016404|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0070028	APP-related cerebral amyloid angiopathy		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18835492|PMID:19105190|PMID:19438933|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:24833714|PMID:25741868|PMID:26556829|PMID:27071356|PMID:28492532|PMID:28832565|PMID:29946510|PMID:29980238|PMID:31289639
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0080855	Parkinsonism		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:25741868|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110176	Charcot-Marie-Tooth disease axonal type 2X		ISO	RGD:1347040	D	RGD:7240710	20180130	OMIM			
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110176	Charcot-Marie-Tooth disease axonal type 2X		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2X | ClinVar Annotator: match by term: Charcot-marie-tooth disease, axonal, type 2x	PMID:16199547|PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19513778|PMID:20110243|PMID:20301389|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23121729|PMID:23443022|PMID:23733235|PMID:23881933|PMID:24033266|PMID:24482476|PMID:24794856|PMID:24833714|PMID:25299611|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:27016404|PMID:27071356|PMID:27084228|PMID:27217339|PMID:27544499|PMID:27790088|PMID:28119845|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29691679|PMID:29908077|PMID:29934652|PMID:29946510|PMID:29980238|PMID:30476097|PMID:30564185|PMID:30574063|PMID:31281085|PMID:31289639|PMID:31407473|PMID:31589614|PMID:31900114|PMID:32019516|PMID:32214227|PMID:32383541|PMID:32397312|PMID:32709422|PMID:32987860|PMID:33059505|PMID:33098801|PMID:33581793|PMID:33589474|PMID:33600046|PMID:33624863|PMID:33866115|PMID:34906502|PMID:34944995|PMID:35254204|PMID:35572931|PMID:35906604|PMID:36139378|PMID:37223130|PMID:37712079
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:7240710	20180130	OMIM			
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23443022|PMID:23733235|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:29246610|PMID:29342275|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31589614|PMID:31692161|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32860008|PMID:32989326|PMID:34906502|PMID:9536098
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26742954|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31227335|PMID:31289639|PMID:31407473|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32638105|PMID:32860008|PMID:32989326|PMID:33084218|PMID:33144682|PMID:33414559|PMID:33430805|PMID:33589474|PMID:33624863|PMID:34906502|PMID:35047667|PMID:9536098
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia,  mental retardation and thin corpus callosum	PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:32860008|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33144682|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:34153142|PMID:34906502|PMID:35047667|PMID:9536098
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia,  mental retardation and thin corpus callosum	PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32007754|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:32860008|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:34153142|PMID:34906502|PMID:35047667|PMID:36139378|PMID:9536098
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia,  mental retardation and thin corpus callosum	PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32007754|PMID:32166880|PMID:32214227|PMID:32397312|PMID:32409511|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:32860008|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:34153142|PMID:34906502|PMID:35047667|PMID:35254204|PMID:36028943|PMID:36139378|PMID:9536098
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive	PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32007754|PMID:32166880|PMID:32214227|PMID:32397312|PMID:32409511|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:32860008|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:34153142|PMID:34906502|PMID:35047667|PMID:35254204|PMID:35326432|PMID:36028943|PMID:36139378|PMID:9536098
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive | ClinVar Annotator: match by term: Spastic paraplegia,  mental retardation and thin corpus callosum	PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:20971220|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:22700954|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28132690|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28933964|PMID:28991695|PMID:29246610|PMID:29342275|PMID:29389947|PMID:29482223|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29970488|PMID:29980238|PMID:30081747|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30778698|PMID:31281085|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32007496|PMID:32007754|PMID:32166880|PMID:32214227|PMID:32293029|PMID:32383541|PMID:32397312|PMID:32409511|PMID:32483926|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:3283541|PMID:32860008|PMID:32961396|PMID:32987860|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33397523|PMID:33414559|PMID:33430805|PMID:33589474|PMID:33624863|PMID:33638609|PMID:33669240|PMID:33866115|PMID:34153142|PMID:34284285|PMID:34782662|PMID:34906502|PMID:35047667|PMID:35066644|PMID:35254204|PMID:35326432|PMID:35464835|PMID:35572931|PMID:35752680|PMID:35896380|PMID:35906604|PMID:36028943|PMID:36139378|PMID:37223130|PMID:37712079|PMID:9536098
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM | ClinVar Annotator: match by term: Spastic paraplegia,  mental retardation and thin corpus callosum	PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:20971220|PMID:21035867|PMID:21270786|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:22700954|PMID:22749184|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:27981572|PMID:28119845|PMID:28130640|PMID:28132690|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28933964|PMID:28991695|PMID:29246610|PMID:29342275|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29970488|PMID:29980238|PMID:30081747|PMID:30212743|PMID:30363882|PMID:30367527|PMID:30373780|PMID:30564185|PMID:30574063|PMID:30778698|PMID:31281085|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32007496|PMID:32007754|PMID:32019516|PMID:32166880|PMID:32293029|PMID:32371905|PMID:32383541|PMID:32397312|PMID:32409511|PMID:32483926|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:3283541|PMID:32860008|PMID:32961396|PMID:32987860|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33397523|PMID:33414559|PMID:33430805|PMID:33589474|PMID:33624863|PMID:33638609|PMID:33669240|PMID:34153142|PMID:34284285|PMID:34445196|PMID:34782662|PMID:34906502|PMID:35012964|PMID:35047667|PMID:35066644|PMID:35254204|PMID:35326432|PMID:35464835|PMID:35499206|PMID:35628876|PMID:35752680|PMID:35896380|PMID:35906604|PMID:36028943|PMID:36139378|PMID:36432490|PMID:37223130|PMID:37712079|PMID:38539105|PMID:39044379|PMID:39825153|PMID:9536098
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM | ClinVar Annotator: match by term: Spastic paraplegia,  mental retardation and thin corpus callosum	PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:20971220|PMID:21035867|PMID:21270786|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:22700954|PMID:22749184|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:27981572|PMID:28119845|PMID:28130640|PMID:28132690|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28933964|PMID:28991695|PMID:29246610|PMID:29342275|PMID:29389947|PMID:29482223|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29970488|PMID:29980238|PMID:30081747|PMID:30212743|PMID:30363882|PMID:30367527|PMID:30373780|PMID:30564185|PMID:30574063|PMID:30778698|PMID:31281085|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32007496|PMID:32007754|PMID:32019516|PMID:32166880|PMID:32214227|PMID:32293029|PMID:32371905|PMID:32383541|PMID:32397312|PMID:32409511|PMID:32483926|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:3283541|PMID:32860008|PMID:32961396|PMID:32987860|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33397523|PMID:33414559|PMID:33430805|PMID:33589474|PMID:33624863|PMID:33638609|PMID:33669240|PMID:33866115|PMID:34153142|PMID:34284285|PMID:34445196|PMID:34782662|PMID:34906502|PMID:35012964|PMID:35047667|PMID:35066644|PMID:35254204|PMID:35326432|PMID:35464835|PMID:35499206|PMID:35572931|PMID:35628876|PMID:35752680|PMID:35896380|PMID:35906604|PMID:36028943|PMID:36139378|PMID:36432490|PMID:37223130|PMID:37712079|PMID:38539105|PMID:39044379|PMID:39825153|PMID:9536098
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive | ClinVar Annotator: match by term: Spastic paraplegia,  mental retardation and thin corpus callosum	PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:20971220|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:22700954|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23881933|PMID:24033266|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24794856|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26742954|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27544499|PMID:27790088|PMID:27900367|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28933964|PMID:28991695|PMID:29246610|PMID:29342275|PMID:29389947|PMID:29482223|PMID:29691679|PMID:29732542|PMID:29895855|PMID:29908077|PMID:29934652|PMID:29946510|PMID:29970488|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30367527|PMID:30373780|PMID:30476097|PMID:30564185|PMID:30574063|PMID:30778698|PMID:31281085|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32007496|PMID:32007754|PMID:32019516|PMID:32166880|PMID:32214227|PMID:32383541|PMID:32397312|PMID:32409511|PMID:32483926|PMID:32638105|PMID:32709422|PMID:32729724|PMID:32961396|PMID:32980267|PMID:32987860|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33397523|PMID:33408077|PMID:33414559|PMID:33430805|PMID:33528536|PMID:33581793|PMID:33589474|PMID:33600046|PMID:33624863|PMID:33638609|PMID:33866115|PMID:34153142|PMID:34284285|PMID:34740920|PMID:34782662|PMID:34906502|PMID:34944995|PMID:34946792|PMID:35012964|PMID:35254204|PMID:35326432|PMID:35464835|PMID:35499206|PMID:35572931|PMID:35628876|PMID:35896380|PMID:35906604|PMID:36139378|PMID:36432490|PMID:36923789|PMID:37223130|PMID:37712079|PMID:37952009|PMID:38539105|PMID:38544359|PMID:38850078|PMID:39044379|PMID:9536098
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0111253	neurofibromatosis 1		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurofibromatosis, type 1	PMID:18079167|PMID:19105190|PMID:25588603|PMID:25741868|PMID:26467025|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0111428	essential tremor 1		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:19194956|PMID:20301389|PMID:25741868
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26556829|PMID:27016404|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:10534	stomach cancer		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:10579	leukodystrophy		ISO	RGD:1347040	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22696581|PMID:25299611|PMID:25741868|PMID:26556829|PMID:27217339|PMID:28492532|PMID:28554332|PMID:29246610|PMID:33581793|PMID:35254204
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:1059	intellectual disability		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18717728|PMID:18835492|PMID:19105190|PMID:19194956|PMID:19438933|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:24794856|PMID:24833714|PMID:25588603|PMID:25741868|PMID:26467025|PMID:26556829|PMID:27071356|PMID:27217339|PMID:28492532|PMID:28832565|PMID:29946510|PMID:29980238|PMID:30476097|PMID:30574063|PMID:31289639|PMID:35906604|PMID:37223130|PMID:39044379
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1347040	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25741868
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:1115	sarcoma		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:11162	respiratory failure		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:26467025|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:11830	myopia		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18835492|PMID:19105190|PMID:19438933|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:23443022|PMID:24833714|PMID:25741868|PMID:26556829|PMID:27016404|PMID:27071356|PMID:28492532|PMID:28832565|PMID:29946510|PMID:29980238|PMID:31289639
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:11836	clubfoot		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:19105190|PMID:20110243|PMID:22154821|PMID:26556829|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:12176	goiter		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26556829|PMID:27016404|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:12849	autistic disorder		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25588603|PMID:25741868|PMID:26467025|PMID:26556829|PMID:27016404|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26556829|PMID:27016404|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:1389	polyneuropathy		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Motor polyneuropathy | ClinVar Annotator: match by term: Polyneuropathy	PMID:17322883|PMID:18408091|PMID:19105190|PMID:19196735|PMID:20110243|PMID:20301389|PMID:22154821|PMID:23221952|PMID:23443022|PMID:23733235|PMID:24451228|PMID:24833714|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26556829|PMID:28492532|PMID:29691679|PMID:30564185|PMID:31900114|PMID:33624863
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:1596	depressive disorder		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:26374131|PMID:26467025|PMID:27790088|PMID:28492532|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:19105190|PMID:20110243|PMID:20301389|PMID:20390432|PMID:22154821|PMID:25741868|PMID:26556829|PMID:27217339|PMID:27544499|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:1826	epilepsy		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26374131|PMID:26467025|PMID:27790088|PMID:28492532|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:1924	hypogonadism		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18835492|PMID:19105190|PMID:19438933|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:24833714|PMID:25741868|PMID:26556829|PMID:27071356|PMID:28492532|PMID:28832565|PMID:29946510|PMID:29980238|PMID:31289639
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:2030	anxiety disorder		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18835492|PMID:19105190|PMID:19438933|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:24833714|PMID:25741868|PMID:26556829|PMID:27071356|PMID:28492532|PMID:28832565|PMID:29946510|PMID:29980238|PMID:31289639
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347040	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19466474|PMID:20110243|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23443022|PMID:23733235|PMID:24033266|PMID:24090761|PMID:24833714|PMID:25174650|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27066562|PMID:27071356|PMID:27217339|PMID:27457812|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:31289639|PMID:31407473|PMID:32166880|PMID:32409511|PMID:9536098
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19466474|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:23733235|PMID:24033266|PMID:24090761|PMID:24833714|PMID:25174650|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27066562|PMID:27071356|PMID:27217339|PMID:27457812|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:30609409|PMID:31289639|PMID:31407473|PMID:32166880|PMID:32409511|PMID:32579787|PMID:32671691|PMID:33589474|PMID:33624863|PMID:9536098
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347040	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Complex hereditary spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19466474|PMID:20110243|PMID:20301389|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23121729|PMID:23221952|PMID:23443022|PMID:23733235|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:26755014|PMID:27066562|PMID:27071356|PMID:27180005|PMID:27217339|PMID:27457812|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:30081747|PMID:30212743|PMID:30778698|PMID:31289639|PMID:31407473|PMID:32005694|PMID:32166880|PMID:32397312|PMID:32409511|PMID:32483926|PMID:32579787|PMID:32671691|PMID:33059505|PMID:33098801|PMID:33589474|PMID:33624863|PMID:35066644|PMID:35254204|PMID:35326432|PMID:35464835|PMID:36028943|PMID:36139378|PMID:9536098
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347040	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20390432|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23121729|PMID:23221952|PMID:23443022|PMID:23733235|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:26755014|PMID:27066562|PMID:27071356|PMID:27180005|PMID:27217339|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:30081747|PMID:30212743|PMID:30574063|PMID:30778698|PMID:31281085|PMID:31289639|PMID:31407473|PMID:31589614|PMID:32005694|PMID:32166880|PMID:32293029|PMID:32383541|PMID:32397312|PMID:32409511|PMID:32483926|PMID:32579787|PMID:32671691|PMID:32987860|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33589474|PMID:33624863|PMID:35066644|PMID:35254204|PMID:35326432|PMID:35464835|PMID:36028943|PMID:36139378|PMID:9536098
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347040	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20390432|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23121729|PMID:23221952|PMID:23443022|PMID:23733235|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:26755014|PMID:27066562|PMID:27071356|PMID:27180005|PMID:27217339|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:30081747|PMID:30212743|PMID:30574063|PMID:30778698|PMID:31281085|PMID:31289639|PMID:31407473|PMID:31589614|PMID:32005694|PMID:32166880|PMID:32293029|PMID:32383541|PMID:32397312|PMID:32409511|PMID:32483926|PMID:32579787|PMID:32671691|PMID:32987860|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33589474|PMID:33624863|PMID:35066644|PMID:35254204|PMID:35326432|PMID:35464835|PMID:35906604|PMID:36028943|PMID:36139378|PMID:36432490|PMID:9536098
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia	PMID:16199547|PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:20110243|PMID:20301389|PMID:21035867|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23121729|PMID:23221952|PMID:23443022|PMID:23733235|PMID:24033266|PMID:24451228|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27071356|PMID:27217339|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:28933964|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29980238|PMID:30081747|PMID:30574063|PMID:30778698|PMID:31281085|PMID:31289639|PMID:31407473|PMID:31589614|PMID:32005694|PMID:32019516|PMID:32166880|PMID:32383541|PMID:32397312|PMID:32409511|PMID:32483926|PMID:33059505|PMID:33098801|PMID:33589474|PMID:35066644|PMID:35254204|PMID:35326432|PMID:35464835|PMID:36139378|PMID:39825153
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:16199547|PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:20110243|PMID:20301389|PMID:21035867|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23121729|PMID:23221952|PMID:23443022|PMID:23733235|PMID:24033266|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27066562|PMID:27071356|PMID:27217339|PMID:27790088|PMID:27900367|PMID:28492532|PMID:28832565|PMID:28933964|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29934652|PMID:29946510|PMID:29980238|PMID:30081747|PMID:30574063|PMID:30778698|PMID:31281085|PMID:31289639|PMID:31407473|PMID:31589614|PMID:32005694|PMID:32019516|PMID:32166880|PMID:32214227|PMID:32383541|PMID:32397312|PMID:32409511|PMID:32483926|PMID:32709422|PMID:32980267|PMID:33059505|PMID:33098801|PMID:33589474|PMID:33600046|PMID:33866115|PMID:34946792|PMID:35066644|PMID:35254204|PMID:35326432|PMID:35464835|PMID:35572931|PMID:35906604|PMID:36139378|PMID:38850078
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:2841	asthma		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:26467025|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:3275	thymoma		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:3312	bipolar disorder		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:19194956|PMID:20301389|PMID:25741868
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease	PMID:18337587|PMID:25741868|PMID:26374131|PMID:26467025|PMID:27790088|PMID:28492532|PMID:29946510|PMID:31407473|PMID:32483926|PMID:33098801|PMID:35254204|PMID:36139378
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:4362	cervical cancer		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:480	movement disease		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18835492|PMID:19105190|PMID:19438933|PMID:20110243|PMID:20301389|PMID:20390432|PMID:20571989|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:23443022|PMID:24833714|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:27016404|PMID:27071356|PMID:27217339|PMID:27544499|PMID:27790088|PMID:28492532|PMID:28832565|PMID:29946510|PMID:29980238|PMID:31289639|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:5041	esophageal cancer		ISO	RGD:1347040	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:5419	schizophrenia		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:19194956|PMID:20301389|PMID:25741868
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:543	dystonia		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18361476|PMID:18586399|PMID:18835492|PMID:19105190|PMID:19438933|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:24482476|PMID:24833714|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:27071356|PMID:28492532|PMID:28832565|PMID:29946510|PMID:29980238|PMID:31289639|PMID:32214227|PMID:33098801|PMID:33866115|PMID:35572931|PMID:35906604
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:607	paraplegia		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18361476|PMID:18586399|PMID:18835492|PMID:19105190|PMID:19438933|PMID:20110243|PMID:20301389|PMID:21381113|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:23043354|PMID:23733235|PMID:24482476|PMID:24833714|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:27071356|PMID:27790088|PMID:28492532|PMID:28832565|PMID:29946510|PMID:29980238|PMID:31289639|PMID:31407473|PMID:32214227|PMID:33098801|PMID:33866115|PMID:35254204|PMID:35572931|PMID:35906604|PMID:36139378
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:630	genetic disease		ISO	RGD:1347040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19917823|PMID:20110243|PMID:20301389|PMID:21381113|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:23043354|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24090761|PMID:24482476|PMID:24833714|PMID:25174650|PMID:25588603|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27180005|PMID:27217339|PMID:27318863|PMID:27457812|PMID:28160950|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29908077|PMID:29949766|PMID:29980238|PMID:30564185|PMID:31227335|PMID:31289639|PMID:31900114|PMID:32166880|PMID:32214227|PMID:32409511|PMID:33414559|PMID:33430805|PMID:33589474|PMID:33624863|PMID:35047667|PMID:9536098
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:630	genetic disease		ISO	RGD:1347040	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20571989|PMID:21270786|PMID:21381113|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:22749184|PMID:23043354|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24090761|PMID:24482476|PMID:24833714|PMID:25174650|PMID:25299611|PMID:25588603|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27180005|PMID:27217339|PMID:27318863|PMID:27790088|PMID:27900367|PMID:27981572|PMID:28132690|PMID:28160950|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29949766|PMID:29980238|PMID:30564185|PMID:30574063|PMID:30778698|PMID:31281085|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31900114|PMID:32005694|PMID:32166880|PMID:32214227|PMID:32293029|PMID:32371905|PMID:32383541|PMID:32397312|PMID:32409511|PMID:32483926|PMID:32729724|PMID:32987860|PMID:33098801|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:33866115|PMID:34445196|PMID:35047667|PMID:35254204|PMID:35572931|PMID:35896380|PMID:35906604|PMID:36028943|PMID:36139378|PMID:37223130|PMID:38539105|PMID:39044379|PMID:39825153|PMID:9536098
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:630	genetic disease		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18414213|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:20110243|PMID:20301389|PMID:20571989|PMID:21270786|PMID:21381113|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23043354|PMID:23443022|PMID:23733235|PMID:23812641|PMID:24833714|PMID:25174650|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27016404|PMID:27071356|PMID:27217339|PMID:27790088|PMID:27981572|PMID:28492532|PMID:28832565|PMID:29908077|PMID:29946510|PMID:29980238|PMID:30564185|PMID:30574063|PMID:31281085|PMID:31289639|PMID:31407473|PMID:31900114|PMID:32166880|PMID:32383541|PMID:32409511|PMID:32483926|PMID:32729724|PMID:32987860|PMID:33098801|PMID:33589474|PMID:33624863|PMID:34944995|PMID:35254204|PMID:36139378|PMID:37223130|PMID:38539105|PMID:39044379|PMID:39825153|PMID:9536098
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:630	genetic disease		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:20110243|PMID:20301389|PMID:20571989|PMID:21381113|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23043354|PMID:23443022|PMID:23733235|PMID:24482476|PMID:24833714|PMID:25174650|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27217339|PMID:27790088|PMID:28492532|PMID:28832565|PMID:29908077|PMID:29946510|PMID:29980238|PMID:30564185|PMID:30574063|PMID:31281085|PMID:31289639|PMID:31407473|PMID:31900114|PMID:32166880|PMID:32214227|PMID:32383541|PMID:32409511|PMID:32483926|PMID:32729724|PMID:32980267|PMID:32987860|PMID:33098801|PMID:33589474|PMID:33624863|PMID:33866115|PMID:34944995|PMID:34946792|PMID:35254204|PMID:35572931|PMID:35906604|PMID:36139378|PMID:37223130|PMID:38539105|PMID:39044379|PMID:9536098
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:7319	axonal neuropathy		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral axonal neuropathy	PMID:17322883|PMID:19105190|PMID:19196735|PMID:20110243|PMID:20301389|PMID:22154821|PMID:23443022|PMID:24833714|PMID:25741868|PMID:26556829|PMID:28492532|PMID:30564185|PMID:31900114|PMID:33624863
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:7998	hyperthyroidism		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26467025|PMID:26556829|PMID:27016404|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:83	cataract		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18835492|PMID:19105190|PMID:19438933|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:24833714|PMID:25741868|PMID:26556829|PMID:27071356|PMID:28492532|PMID:28832565|PMID:29946510|PMID:29980238|PMID:31289639
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:870	neuropathy		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18717728|PMID:18835492|PMID:19105190|PMID:19438933|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:24794856|PMID:24833714|PMID:25741868|PMID:26556829|PMID:27071356|PMID:27217339|PMID:28492532|PMID:28832565|PMID:29946510|PMID:29980238|PMID:30476097|PMID:30574063|PMID:31289639|PMID:35906604
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:8927	learning disability		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18835492|PMID:19105190|PMID:19438933|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:24833714|PMID:25741868|PMID:26556829|PMID:27071356|PMID:28492532|PMID:28832565|PMID:29946510|PMID:29980238|PMID:31289639
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9000276	Juvenile Amyotrophic Lateral Sclerosis		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis	PMID:25741868|PMID:26374131|PMID:26467025|PMID:27790088|PMID:28492532|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9000348	Confusion		ISO	RGD:1347040	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Confusion	PMID:19105190|PMID:20110243|PMID:22154821|PMID:25299611|PMID:25741868|PMID:26556829|PMID:28492532|PMID:28554332|PMID:29246610
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9000495	Tremor		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Action tremor | ClinVar Annotator: match by term: Tremor	PMID:18079167|PMID:18361476|PMID:18586399|PMID:19105190|PMID:20110243|PMID:20301389|PMID:22154821|PMID:24482476|PMID:24833714|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:28492532|PMID:32214227|PMID:33098801|PMID:33866115|PMID:35572931|PMID:35906604
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18835492|PMID:19105190|PMID:19438933|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:24833714|PMID:25741868|PMID:26556829|PMID:27071356|PMID:28492532|PMID:28832565|PMID:29946510|PMID:29980238|PMID:31289639
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9001722	Dysarthria		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18361476|PMID:18586399|PMID:18835492|PMID:19105190|PMID:19438933|PMID:20110243|PMID:20301389|PMID:20390432|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:24482476|PMID:24833714|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:27071356|PMID:27217339|PMID:27544499|PMID:28492532|PMID:28832565|PMID:29691679|PMID:29934652|PMID:29946510|PMID:29980238|PMID:31289639|PMID:32214227|PMID:32709422|PMID:33098801|PMID:33600046|PMID:33866115|PMID:35572931|PMID:35906604
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9001733	Tinnitus		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18835492|PMID:19105190|PMID:19438933|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:23443022|PMID:24833714|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:27016404|PMID:27071356|PMID:27790088|PMID:28492532|PMID:28832565|PMID:29946510|PMID:29980238|PMID:31289639|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:18079167|PMID:19105190|PMID:25588603|PMID:25741868|PMID:26467025|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18361476|PMID:18586399|PMID:18835492|PMID:19105190|PMID:19438933|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:24482476|PMID:24833714|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:27071356|PMID:27790088|PMID:28492532|PMID:28832565|PMID:29946510|PMID:29980238|PMID:31289639|PMID:31407473|PMID:32214227|PMID:33098801|PMID:33866115|PMID:35254204|PMID:35572931|PMID:35906604|PMID:36139378
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Progressive spastic paraparesis | ClinVar Annotator: match by term: Spastic paraparesis	PMID:18079167|PMID:18361476|PMID:18586399|PMID:19105190|PMID:19194956|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22696581|PMID:24482476|PMID:24833714|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:27790088|PMID:28492532|PMID:31407473|PMID:32214227|PMID:33098801|PMID:33866115|PMID:35254204|PMID:35572931|PMID:35906604|PMID:36139378
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	PMID:25741868|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1347040	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cognitive impairment | ClinVar Annotator: match by term: Mental deterioration	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18835492|PMID:19105190|PMID:19194956|PMID:19438933|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:24833714|PMID:25299611|PMID:25741868|PMID:26556829|PMID:27071356|PMID:27217339|PMID:28492532|PMID:28554332|PMID:28832565|PMID:29246610|PMID:29946510|PMID:29980238|PMID:31289639|PMID:33581793|PMID:35254204
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9003126	Hallucinations		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18835492|PMID:19105190|PMID:19438933|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:24833714|PMID:25741868|PMID:26556829|PMID:27071356|PMID:28492532|PMID:28832565|PMID:29946510|PMID:29980238|PMID:31289639
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9003507	Premature Birth		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:26374131|PMID:26467025|PMID:27790088|PMID:28492532|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9003539	Hyperacusis		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26556829|PMID:27016404|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9004866	Ataxia		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:18079167|PMID:18361476|PMID:18586399|PMID:19105190|PMID:20110243|PMID:20301389|PMID:21625935|PMID:22154821|PMID:24482476|PMID:24833714|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:28492532|PMID:29691679|PMID:29934652|PMID:32214227|PMID:32709422|PMID:33098801|PMID:33600046|PMID:33866115|PMID:35572931|PMID:35906604
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18835492|PMID:19105190|PMID:19438933|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:24833714|PMID:25741868|PMID:26556829|PMID:27071356|PMID:28492532|PMID:28832565|PMID:29946510|PMID:29980238|PMID:31289639
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26556829|PMID:27016404|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9005968	Neuralgia		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuropathic pain	PMID:17322883|PMID:19105190|PMID:19196735|PMID:20110243|PMID:20301389|PMID:22154821|PMID:23443022|PMID:24833714|PMID:25741868|PMID:26556829|PMID:28492532|PMID:30564185|PMID:31900114|PMID:33624863
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic gait	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22696581|PMID:25741868|PMID:26556829|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18835492|PMID:19105190|PMID:19438933|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:23443022|PMID:24833714|PMID:25741868|PMID:26467025|PMID:26556829|PMID:27016404|PMID:27071356|PMID:28492532|PMID:28832565|PMID:29946510|PMID:29980238|PMID:31289639
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9006743	Spasm		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18835492|PMID:19105190|PMID:19438933|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:24833714|PMID:25741868|PMID:26556829|PMID:27071356|PMID:28492532|PMID:28832565|PMID:29946510|PMID:29980238|PMID:31289639
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:19194956|PMID:20301389|PMID:25741868
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18361476|PMID:18586399|PMID:18717728|PMID:18835492|PMID:19105190|PMID:19438933|PMID:20110243|PMID:20301389|PMID:20390432|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:24482476|PMID:24794856|PMID:24833714|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:27071356|PMID:27217339|PMID:27544499|PMID:28492532|PMID:28832565|PMID:29946510|PMID:29980238|PMID:30476097|PMID:30574063|PMID:31289639|PMID:32214227|PMID:33098801|PMID:33866115|PMID:35572931|PMID:35906604
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26556829|PMID:27016404|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18361476|PMID:18586399|PMID:18835492|PMID:19105190|PMID:19194956|PMID:19438933|PMID:20110243|PMID:20301389|PMID:20390432|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:24482476|PMID:24833714|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:27071356|PMID:27217339|PMID:27544499|PMID:27790088|PMID:28492532|PMID:28832565|PMID:29946510|PMID:29980238|PMID:31289639|PMID:31407473|PMID:32214227|PMID:33098801|PMID:33866115|PMID:35254204|PMID:35572931|PMID:35906604|PMID:36139378
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9007573	Flatfoot		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:19105190|PMID:20110243|PMID:20301389|PMID:20390432|PMID:22154821|PMID:25741868|PMID:26556829|PMID:27217339|PMID:27544499|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9007736	Vertigo		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:26374131|PMID:26467025|PMID:27790088|PMID:28492532|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9008023	Memory Disorders		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18835492|PMID:19105190|PMID:19438933|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:24833714|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:27071356|PMID:27790088|PMID:28492532|PMID:28832565|PMID:29946510|PMID:29980238|PMID:31289639|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19105190|PMID:20110243|PMID:22154821|PMID:25741868|PMID:26556829|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18835492|PMID:19105190|PMID:19438933|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:24833714|PMID:25741868|PMID:26556829|PMID:27071356|PMID:28492532|PMID:28832565|PMID:29946510|PMID:29980238|PMID:31289639
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:93	language disorder		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22696581|PMID:25741868|PMID:26556829|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:18079167|PMID:18361476|PMID:18586399|PMID:19105190|PMID:20110243|PMID:20301389|PMID:21625935|PMID:22154821|PMID:24482476|PMID:24833714|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:28492532|PMID:29691679|PMID:29934652|PMID:32214227|PMID:32709422|PMID:33098801|PMID:33600046|PMID:33866115|PMID:35572931|PMID:35906604
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9834	hyperopia		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:26467025|PMID:28492532
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9970	obesity		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency | ClinVar Annotator: match by term: SIM1-related condition	PMID:19194956|PMID:20301389|PMID:25741868|PMID:26374131|PMID:26467025|PMID:27790088|PMID:28492532|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378|PMID:39825153
8794785	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9970	obesity		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:19194956|PMID:20301389|PMID:25741868|PMID:26374131|PMID:26467025|PMID:27790088|PMID:28492532|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378
8794840	Zc3h13	zinc finger CCCH-type containing 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8794840	Zc3h13	zinc finger CCCH-type containing 13	gene	DOID:10534	stomach cancer		ISO	RGD:1317090	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8794840	Zc3h13	zinc finger CCCH-type containing 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8794840	Zc3h13	zinc finger CCCH-type containing 13	gene	DOID:3275	thymoma		ISO	RGD:1317090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8794840	Zc3h13	zinc finger CCCH-type containing 13	gene	DOID:4362	cervical cancer		ISO	RGD:1317090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8794840	Zc3h13	zinc finger CCCH-type containing 13	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8794840	Zc3h13	zinc finger CCCH-type containing 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794840	Zc3h13	zinc finger CCCH-type containing 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8794840	Zc3h13	zinc finger CCCH-type containing 13	gene	DOID:9002189	High Myopia		ISO	RGD:1317090	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
8794840	Zc3h13	zinc finger CCCH-type containing 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8794918	Vps45	vacuolar protein sorting 45 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8794918	Vps45	vacuolar protein sorting 45 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8794918	Vps45	vacuolar protein sorting 45 homolog	gene	DOID:0112132	severe congenital neutropenia 5		ISO	RGD:732754	D	RGD:7240710	20180130	OMIM			
8794918	Vps45	vacuolar protein sorting 45 homolog	gene	DOID:0112132	severe congenital neutropenia 5		ISO	RGD:732754	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia 5 | ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome | ClinVar Annotator: match by term: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Severe congenital neutropenia 5, autosomal recessive	PMID:17576681|PMID:23599270|PMID:23738510|PMID:25640679|PMID:25741868|PMID:26358756|PMID:28492532|PMID:30294941|PMID:32037586|PMID:9536098
8794918	Vps45	vacuolar protein sorting 45 homolog	gene	DOID:0112133	severe congenital neutropenia 3		ISO	RGD:732754	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:23599270
8794918	Vps45	vacuolar protein sorting 45 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:732754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8794918	Vps45	vacuolar protein sorting 45 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8794918	Vps45	vacuolar protein sorting 45 homolog	gene	DOID:1115	sarcoma		ISO	RGD:732754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8794918	Vps45	vacuolar protein sorting 45 homolog	gene	DOID:1324	lung cancer		ISO	RGD:732754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8794918	Vps45	vacuolar protein sorting 45 homolog	gene	DOID:1909	melanoma		ISO	RGD:732754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8794918	Vps45	vacuolar protein sorting 45 homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8794918	Vps45	vacuolar protein sorting 45 homolog	gene	DOID:3275	thymoma		ISO	RGD:732754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8794918	Vps45	vacuolar protein sorting 45 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:732754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8794918	Vps45	vacuolar protein sorting 45 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:732754	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8794918	Vps45	vacuolar protein sorting 45 homolog	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:25741868|PMID:28492532
8794918	Vps45	vacuolar protein sorting 45 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8794918	Vps45	vacuolar protein sorting 45 homolog	gene	DOID:630	genetic disease		ISO	RGD:732754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8794918	Vps45	vacuolar protein sorting 45 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8794918	Vps45	vacuolar protein sorting 45 homolog	gene	DOID:9006561	Familial Myelofibrosis		ISO	RGD:732754	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23599270
8794918	Vps45	vacuolar protein sorting 45 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8794918	Vps45	vacuolar protein sorting 45 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8794937	Slc35c2	solute carrier family 35 member C2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8794937	Slc35c2	solute carrier family 35 member C2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8794937	Slc35c2	solute carrier family 35 member C2	gene	DOID:4362	cervical cancer		ISO	RGD:1322607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8794937	Slc35c2	solute carrier family 35 member C2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322607	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8794937	Slc35c2	solute carrier family 35 member C2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8794937	Slc35c2	solute carrier family 35 member C2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794965	Traf4	TNF receptor associated factor 4	gene	DOID:1909	melanoma		ISO	RGD:1315478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8794965	Traf4	TNF receptor associated factor 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1315478	D	RGD:9068941	20220310	RGD		mRNA:increased expression:lung (human)	PMID:29254206|REF_RGD_ID:151665107
8794965	Traf4	TNF receptor associated factor 4	gene	DOID:4362	cervical cancer		ISO	RGD:1315478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8794965	Traf4	TNF receptor associated factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794965	Traf4	TNF receptor associated factor 4	gene	DOID:9000998	Brain Injuries		ISO	RGD:1315478	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23159883
8794965	Traf4	TNF receptor associated factor 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:0050952	spastic ataxia		ISO	RGD:1346209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:22833003|PMID:25059390|PMID:25741868|PMID:26354221|PMID:28492532|PMID:33190326|PMID:34445196
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:0060787	hypomyelinating leukodystrophy 2		ISO	RGD:1346209	D	RGD:7240710	20180130	OMIM			
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:0060787	hypomyelinating leukodystrophy 2		ISO	RGD:1346209	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 | ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 2 | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 | ClinVar Annotator: match by term: PELIZAEUS-MERZBACHER-LIKE DISEASE, 1	PMID:15192806|PMID:16707726|PMID:17344063|PMID:18094336|PMID:20442743|PMID:20695017|PMID:21246605|PMID:21959080|PMID:22283455|PMID:22833003|PMID:23142375|PMID:23544880|PMID:2368670|PMID:24374284|PMID:25059390|PMID:25741868|PMID:26354221|PMID:27057822|PMID:27780564|PMID:28492532|PMID:29389947|PMID:31270756|PMID:31912665|PMID:32488064|PMID:33190326|PMID:34055681|PMID:34445196|PMID:38374194
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:0070208	hereditary lymphedema IC		ISO	RGD:1346209	D	RGD:7240710	20180130	OMIM			
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:0070208	hereditary lymphedema IC		ISO	RGD:1346209	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 3 | ClinVar Annotator: match by term: Lymphatic malformation 3	PMID:25741868|PMID:27057822|PMID:28492532|PMID:34055681
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:0110796	hereditary spastic paraplegia 44		ISO	RGD:1346209	D	RGD:7240710	20180130	OMIM			
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:0110796	hereditary spastic paraplegia 44		ISO	RGD:1346209	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 44 | ClinVar Annotator: match by term: Spastic paraplegia 44, autosomal recessive	PMID:18094336|PMID:20695017|PMID:21246605|PMID:21959080|PMID:23142375|PMID:24374284|PMID:25741868|PMID:27057822|PMID:27780564|PMID:28492532|PMID:34055681
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:1059	intellectual disability		ISO	RGD:1346209	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:32581362
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:12849	autistic disorder		ISO	RGD:1346209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:14330	Parkinson's disease	treatment	ISO	RGD:1562712	D	RGD:9068941	20200609	RGD			PMID:21561882|REF_RGD_ID:13208520
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:1909	melanoma		ISO	RGD:1346209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1346209	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:26467025|PMID:28492532
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:3210	Pelizaeus-Merzbacher disease		ISO	RGD:1346209	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease	PMID:15192806|PMID:25741868|PMID:28492532|PMID:31319225
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1623025	D	RGD:9068941	20200609	RGD		protein:decreased expression:lumbar spinal cord ventral horn, oligodendrocyte (mouse)	PMID:24597481|REF_RGD_ID:13208591
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:4977	lymphedema		ISO	RGD:1346209	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:multiple (human)	PMID:20537300|REF_RGD_ID:13208590
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:4977	lymphedema		ISO	RGD:1346209	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.S48L, p.M210R (human)	PMID:21266381|REF_RGD_ID:13208589
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:607	paraplegia		ISO	RGD:1346209	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:15192806|PMID:17576681|PMID:18094336|PMID:20442743|PMID:20513814|PMID:20537300|PMID:20695017|PMID:21246605|PMID:21959080|PMID:22351697|PMID:22833003|PMID:23142375|PMID:23143715|PMID:23544880|PMID:24374284|PMID:25059390|PMID:25741868|PMID:26467025|PMID:27057822|PMID:27780564|PMID:28492532|PMID:29141312|PMID:29451896|PMID:29906362|PMID:31270756|PMID:31912665|PMID:33190326|PMID:33547378|PMID:34055681|PMID:34445196|PMID:38374194|PMID:7057822|PMID:9536098
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:630	genetic disease		ISO	RGD:1346209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22351697|PMID:25741868|PMID:28492532|PMID:29906362
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:1562712	D	RGD:9068941	20200609	RGD			PMID:26415641|REF_RGD_ID:13208513
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:9000495	Tremor		ISO	RGD:1346209	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intention tremor	PMID:25741868
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1346209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:26354221
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1623025	D	RGD:9068941	20200609	RGD		protein:decreased expression:white matter of spinal cord, gap junction (mouse)	PMID:22461072|REF_RGD_ID:13208593
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:9003208	Progressive Psychomotor Deterioration		ISO	RGD:1346209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive psychomotor deterioration	PMID:15192806|PMID:18094336|PMID:25741868|PMID:28492532|PMID:31270756|PMID:38374194
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:9004866	Ataxia		ISO	RGD:1346209	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:27057822|PMID:28492532|PMID:34055681
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1346209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1346209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346209	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1346209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:15192806|PMID:18094336|PMID:25741868|PMID:28492532|PMID:31270756|PMID:38374194
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27057822|PMID:28492532|PMID:34055681
8794980	Gjc2	gap junction protein gamma 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1346209	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nystagmus | ClinVar Annotator: match by term: Pendular nystagmus	PMID:25741868|PMID:26354221|PMID:27057822|PMID:28492532|PMID:34055681
8794988	Proser3	proline and serine rich 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8794988	Proser3	proline and serine rich 3	gene	DOID:1909	melanoma		ISO	RGD:1603570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8794988	Proser3	proline and serine rich 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8794988	Proser3	proline and serine rich 3	gene	DOID:4362	cervical cancer		ISO	RGD:1603570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8794988	Proser3	proline and serine rich 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603570	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8794988	Proser3	proline and serine rich 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1603570	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8794988	Proser3	proline and serine rich 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8794988	Proser3	proline and serine rich 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1603570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8794988	Proser3	proline and serine rich 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8795030	Pou4f1	POU class 4 homeobox 1	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1346307	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21928122
8795030	Pou4f1	POU class 4 homeobox 1	gene	DOID:9006096	Uterine Cervical Dysplasia		ISO	RGD:1346307	D	RGD:9068941	20250417	CTD		CTD Direct Evidence: marker/mechanism	PMID:20190800
8795030	Pou4f1	POU class 4 homeobox 1	gene	DOID:9006671	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET		ISO	RGD:1346307	D	RGD:7240710	20210811	OMIM			
8795030	Pou4f1	POU class 4 homeobox 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346307	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18206229
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1318847	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:0060415	chromosome 2p16.1-p15 deletion syndrome		ISO	RGD:1318847	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chromosome 2p16.1-p15 deletion syndrome	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:10534	stomach cancer		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:1115	sarcoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:1324	lung cancer		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:1909	melanoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:3275	thymoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:4362	cervical cancer		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:5041	esophageal cancer		ISO	RGD:1318847	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:6039	uveal melanoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8795038	Usp34	ubiquitin specific peptidase 34	gene	DOID:9256	colorectal cancer		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8795119	Zc3hc1	zinc finger C3HC-type containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8795119	Zc3hc1	zinc finger C3HC-type containing 1	gene	DOID:1909	melanoma		ISO	RGD:1347342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8795119	Zc3hc1	zinc finger C3HC-type containing 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1347342	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378990
8795119	Zc3hc1	zinc finger C3HC-type containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8795119	Zc3hc1	zinc finger C3HC-type containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795119	Zc3hc1	zinc finger C3HC-type containing 1	gene	DOID:9000528	Coronary Disease		ISO	RGD:1347342	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
8795119	Zc3hc1	zinc finger C3HC-type containing 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1347342	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
8795140	Usp14	ubiquitin specific peptidase 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8795140	Usp14	ubiquitin specific peptidase 14	gene	DOID:0050453	lissencephaly		ISO	RGD:1323483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lissencephaly	PMID:25741868
8795140	Usp14	ubiquitin specific peptidase 14	gene	DOID:0050646	distal arthrogryposis		ISO	RGD:1323483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Distal arthrogryposis and CNS involvement	PMID:25741868
8795140	Usp14	ubiquitin specific peptidase 14	gene	DOID:0111568	congenital vertical talus		ISO	RGD:1323483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital vertical talus	PMID:25741868
8795140	Usp14	ubiquitin specific peptidase 14	gene	DOID:10485	esophageal atresia		ISO	RGD:1323483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	PMID:25741868
8795140	Usp14	ubiquitin specific peptidase 14	gene	DOID:10534	stomach cancer		ISO	RGD:1323483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8795140	Usp14	ubiquitin specific peptidase 14	gene	DOID:1324	lung cancer		ISO	RGD:1323483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8795140	Usp14	ubiquitin specific peptidase 14	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8795140	Usp14	ubiquitin specific peptidase 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8795140	Usp14	ubiquitin specific peptidase 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795140	Usp14	ubiquitin specific peptidase 14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8795140	Usp14	ubiquitin specific peptidase 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8795140	Usp14	ubiquitin specific peptidase 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8795159	Epc2	enhancer of polycomb 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8795159	Epc2	enhancer of polycomb 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8795159	Epc2	enhancer of polycomb 2	gene	DOID:1324	lung cancer		ISO	RGD:1316366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8795159	Epc2	enhancer of polycomb 2	gene	DOID:1909	melanoma		ISO	RGD:1316366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8795159	Epc2	enhancer of polycomb 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8795159	Epc2	enhancer of polycomb 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8795159	Epc2	enhancer of polycomb 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8795159	Epc2	enhancer of polycomb 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795159	Epc2	enhancer of polycomb 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8795159	Epc2	enhancer of polycomb 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1316366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30718926
8795181	Znf668	zinc finger protein 668	gene	DOID:10907	microcephaly		ISO	RGD:1605939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive microcephaly	PMID:34313816
8795181	Znf668	zinc finger protein 668	gene	DOID:10907	microcephaly		ISO	RGD:1605939	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive microcephaly	
8795181	Znf668	zinc finger protein 668	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8795181	Znf668	zinc finger protein 668	gene	DOID:2661	myoepithelioma		ISO	RGD:1605939	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8795181	Znf668	zinc finger protein 668	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8795181	Znf668	zinc finger protein 668	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1605939	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive | ClinVar Annotator: match by term: failure to thrive	
8795181	Znf668	zinc finger protein 668	gene	DOID:9005566	NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES		ISO	RGD:1605939	D	RGD:7240710	20230505	OMIM			
8795181	Znf668	zinc finger protein 668	gene	DOID:9005566	NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES		ISO	RGD:1605939	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies | ClinVar Annotator: match by term: ZNF668-related condition	PMID:25741868
8795181	Znf668	zinc finger protein 668	gene	DOID:9005834	Ependymomas		ISO	RGD:1605939	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075792
8795196	Tmem150a	transmembrane protein 150A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8795196	Tmem150a	transmembrane protein 150A	gene	DOID:10534	stomach cancer		ISO	RGD:1605297	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8795196	Tmem150a	transmembrane protein 150A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795196	Tmem150a	transmembrane protein 150A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8795196	Tmem150a	transmembrane protein 150A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8795196	Tmem150a	transmembrane protein 150A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8795211	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8795211	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:0050645	arterial tortuosity syndrome		ISO	RGD:1323680	D	RGD:9068941	20220825	MouseDO		OMIM:208050	
8795211	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8795211	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1323679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8795211	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8795211	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:14323	Marfan syndrome		ISO	RGD:1323680	D	RGD:9068941	20220825	MouseDO		OMIM:154700	
8795211	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:1909	melanoma		ISO	RGD:1323679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8795211	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:3275	thymoma		ISO	RGD:1323679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8795211	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1323679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8795211	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1323679	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8795211	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795211	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:6039	uveal melanoma		ISO	RGD:1323679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8795211	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8795211	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:9675	pulmonary emphysema		ISO	RGD:1323680	D	RGD:9068941	20220825	MouseDO		OMIM:130700	
8795245	Cimip1	ciliary microtubule inner protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8795245	Cimip1	ciliary microtubule inner protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8795245	Cimip1	ciliary microtubule inner protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8795267	Galnt10	polypeptide N-acetylgalactosaminyltransferase 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8795267	Galnt10	polypeptide N-acetylgalactosaminyltransferase 10	gene	DOID:10534	stomach cancer		ISO	RGD:1348778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8795267	Galnt10	polypeptide N-acetylgalactosaminyltransferase 10	gene	DOID:1909	melanoma		ISO	RGD:1348778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8795267	Galnt10	polypeptide N-acetylgalactosaminyltransferase 10	gene	DOID:4362	cervical cancer		ISO	RGD:1348778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8795267	Galnt10	polypeptide N-acetylgalactosaminyltransferase 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8795267	Galnt10	polypeptide N-acetylgalactosaminyltransferase 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1348778	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8795267	Galnt10	polypeptide N-acetylgalactosaminyltransferase 10	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348778	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:0050634	alopecia universalis		ISO	RGD:1344984	D	RGD:7240710	20180130	OMIM			
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:0050634	alopecia universalis		ISO	RGD:1344984	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALOPECIA UNIVERSALIS CONGENITA | ClinVar Annotator: match by term: Alopecia universalis congenita | ClinVar Annotator: match by term: HR-related condition	PMID:11966690|PMID:17609203|PMID:20087431|PMID:20512917|PMID:25741868|PMID:26680117|PMID:28492532|PMID:9736769
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:0060689	atrichia with papular lesions		ISO	RGD:1344984	D	RGD:7240710	20180130	OMIM			
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:0060689	atrichia with papular lesions		ISO	RGD:1344984	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATRICHIA WITH PAPULAR LESIONS | ClinVar Annotator: match by term: Atrichia with papular lesions	PMID:17869066|PMID:18164595|PMID:21747609|PMID:22584530|PMID:25741868|PMID:28492532|PMID:9856480
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:0110701	hypotrichosis 4		ISO	RGD:1344984	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:19122663
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:0110701	hypotrichosis 4		ISO	RGD:735796	D	RGD:9068941	20250724	MouseDO		OMIM:146550	
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:10534	stomach cancer		ISO	RGD:1344984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:1115	sarcoma		ISO	RGD:1344984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:620634	D	RGD:9068941	20211022	RGD			PMID:21325752|REF_RGD_ID:150520024
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:1909	melanoma		ISO	RGD:1344984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:3275	thymoma		ISO	RGD:1344984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:4535	hypotrichosis		ISO	RGD:1344984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotrichosis	PMID:25741868
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:5041	esophageal cancer		ISO	RGD:1344984	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:576	proteinuria		ISO	RGD:620634	D	RGD:9068941	20211022	RGD			PMID:21325752|REF_RGD_ID:150520024
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:6039	uveal melanoma		ISO	RGD:1344984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:630	genetic disease		ISO	RGD:1344984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:9001946	Skin Abnormalities		ISO	RGD:1344984	D	RGD:9068941	20200609	RGD		atrichia with papular lesions, OMIM:209500    DNA:deletion:exon:2147delC	PMID:9856480|REF_RGD_ID:1599576
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8795283	Hr	HR lysine demethylase and nuclear receptor corepressor	gene	DOID:987	alopecia		ISO	RGD:1344984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alopecia	PMID:25741868
8795307	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8795307	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:10283	prostate cancer		ISO	RGD:1347923	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8795307	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:10283	prostate cancer		ISO	RGD:1347923	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8795307	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:10534	stomach cancer		ISO	RGD:1347923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8795307	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:1115	sarcoma		ISO	RGD:1347923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8795307	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:1324	lung cancer		ISO	RGD:1347923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8795307	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:3275	thymoma		ISO	RGD:1347923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8795307	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8795307	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:4362	cervical cancer		ISO	RGD:1347923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8795307	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1347923	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8795307	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795307	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8795307	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8795307	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8795352	Uba5	ubiquitin like modifier activating enzyme 5	gene	DOID:0080424	developmental and epileptic encephalopathy 44		ISO	RGD:1323296	D	RGD:7240710	20190315	OMIM			
8795352	Uba5	ubiquitin like modifier activating enzyme 5	gene	DOID:0080424	developmental and epileptic encephalopathy 44		ISO	RGD:1323296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 44	PMID:25741868
8795352	Uba5	ubiquitin like modifier activating enzyme 5	gene	DOID:0111615	autosomal recessive spinocerebellar ataxia 24		ISO	RGD:1323296	D	RGD:7240710	20190315	OMIM			
8795352	Uba5	ubiquitin like modifier activating enzyme 5	gene	DOID:13580	cholestasis		ISO	RGD:1323296	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
8795352	Uba5	ubiquitin like modifier activating enzyme 5	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1323296	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8795352	Uba5	ubiquitin like modifier activating enzyme 5	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1323296	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
8795371	Slc39a4	solute carrier family 39 member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8795371	Slc39a4	solute carrier family 39 member 4	gene	DOID:0050605	acrodermatitis enteropathica		ISO	RGD:1315470	D	RGD:7240710	20180130	OMIM			
8795371	Slc39a4	solute carrier family 39 member 4	gene	DOID:0050605	acrodermatitis enteropathica		ISO	RGD:1315470	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACRODERMATITIS ENTEROPATHICA | ClinVar Annotator: match by term: Acrodermatitis enteropathica | ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica | ClinVar Annotator: match by term: SLC39A4-related condition	PMID:12032886|PMID:12068297|PMID:12787121|PMID:12955721|PMID:14709598|PMID:16199547|PMID:16819703|PMID:19370757|PMID:19416242|PMID:20981092|PMID:21165302|PMID:21762381|PMID:24033266|PMID:25741868|PMID:26351177|PMID:27321477|PMID:28188634|PMID:28492532|PMID:28604961|PMID:28717982|PMID:30174688|PMID:31130284|PMID:31979155|PMID:32442281|PMID:33837739|PMID:34625996|PMID:36479285|PMID:38831989
8795371	Slc39a4	solute carrier family 39 member 4	gene	DOID:0060496	respiratory allergy		ISO	RGD:1315470	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085522
8795371	Slc39a4	solute carrier family 39 member 4	gene	DOID:2722	acrodermatitis		ISO	RGD:1315470	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16714095|PMID:16819703|PMID:16889938|PMID:17190629|PMID:17202136
8795371	Slc39a4	solute carrier family 39 member 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8795371	Slc39a4	solute carrier family 39 member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1315470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8795371	Slc39a4	solute carrier family 39 member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795371	Slc39a4	solute carrier family 39 member 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8795371	Slc39a4	solute carrier family 39 member 4	gene	DOID:630	genetic disease		ISO	RGD:1315470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8795371	Slc39a4	solute carrier family 39 member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8795371	Slc39a4	solute carrier family 39 member 4	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1315470	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20957146
8795371	Slc39a4	solute carrier family 39 member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8795371	Slc39a4	solute carrier family 39 member 4	gene	DOID:9007023	Prenatal Injuries		ISO	RGD:1315470	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17483098
8795371	Slc39a4	solute carrier family 39 member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8795403	Znf181	zinc finger protein 181	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8795416	Dchs2	dachsous cadherin-related 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8795416	Dchs2	dachsous cadherin-related 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8795416	Dchs2	dachsous cadherin-related 2	gene	DOID:10283	prostate cancer		ISO	RGD:1603301	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8795416	Dchs2	dachsous cadherin-related 2	gene	DOID:10283	prostate cancer		ISO	RGD:1603301	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8795416	Dchs2	dachsous cadherin-related 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8795416	Dchs2	dachsous cadherin-related 2	gene	DOID:1115	sarcoma		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8795416	Dchs2	dachsous cadherin-related 2	gene	DOID:1324	lung cancer		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8795416	Dchs2	dachsous cadherin-related 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8795416	Dchs2	dachsous cadherin-related 2	gene	DOID:3275	thymoma		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8795416	Dchs2	dachsous cadherin-related 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8795416	Dchs2	dachsous cadherin-related 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8795416	Dchs2	dachsous cadherin-related 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1603301	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8795416	Dchs2	dachsous cadherin-related 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795416	Dchs2	dachsous cadherin-related 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8795416	Dchs2	dachsous cadherin-related 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8795416	Dchs2	dachsous cadherin-related 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8795416	Dchs2	dachsous cadherin-related 2	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1603301	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:25741868
8795468	Ipo13	importin 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8795468	Ipo13	importin 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8795468	Ipo13	importin 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8795468	Ipo13	importin 13	gene	DOID:1115	sarcoma		ISO	RGD:731320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8795468	Ipo13	importin 13	gene	DOID:1909	melanoma		ISO	RGD:731320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8795468	Ipo13	importin 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8795468	Ipo13	importin 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8795468	Ipo13	importin 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795468	Ipo13	importin 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8795468	Ipo13	importin 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8795510	Arf3	ARF GTPase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8795510	Arf3	ARF GTPase 3	gene	DOID:0060249	scoliosis		ISO	RGD:1354397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
8795510	Arf3	ARF GTPase 3	gene	DOID:1059	intellectual disability		ISO	RGD:1354397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:36369169
8795510	Arf3	ARF GTPase 3	gene	DOID:10907	microcephaly		ISO	RGD:1354397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:36369169
8795510	Arf3	ARF GTPase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8795510	Arf3	ARF GTPase 3	gene	DOID:12849	autistic disorder		ISO	RGD:1354397	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868|PMID:36369169
8795510	Arf3	ARF GTPase 3	gene	DOID:1826	epilepsy		ISO	RGD:1354397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:36369169
8795510	Arf3	ARF GTPase 3	gene	DOID:4667	kyphosis		ISO	RGD:1354397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:25741868
8795510	Arf3	ARF GTPase 3	gene	DOID:543	dystonia		ISO	RGD:1354397	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
8795510	Arf3	ARF GTPase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795510	Arf3	ARF GTPase 3	gene	DOID:630	genetic disease		ISO	RGD:1354397	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8795510	Arf3	ARF GTPase 3	gene	DOID:9001510	Funnel Chest		ISO	RGD:1354397	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:36369169
8795510	Arf3	ARF GTPase 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1354397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:36369169
8795510	Arf3	ARF GTPase 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1354397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:36369169
8795510	Arf3	ARF GTPase 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1354397	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:36369169
8795529	Paqr7	progestin and adipoQ receptor family member 7	gene	DOID:1324	lung cancer		ISO	RGD:1606437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8795529	Paqr7	progestin and adipoQ receptor family member 7	gene	DOID:3275	thymoma		ISO	RGD:1606437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8795529	Paqr7	progestin and adipoQ receptor family member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795529	Paqr7	progestin and adipoQ receptor family member 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8795536	LOC102011029	chromosome unknown open reading frame, human C10orf67	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8795536	LOC102011029	chromosome unknown open reading frame, human C10orf67	gene	DOID:4362	cervical cancer		ISO	RGD:1350054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8795536	LOC102011029	chromosome unknown open reading frame, human C10orf67	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795536	LOC102011029	chromosome unknown open reading frame, human C10orf67	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8795560	Calb1	calbindin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8795560	Calb1	calbindin 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:732083	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
8795560	Calb1	calbindin 1	gene	DOID:11714	gestational diabetes		ISO	RGD:732083	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
8795560	Calb1	calbindin 1	gene	DOID:1324	lung cancer		ISO	RGD:732083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8795560	Calb1	calbindin 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:69340	D	RGD:9068941	20231221	RGD		mRNA:decreased expression:hippocampus (rat)	PMID:30277635|REF_RGD_ID:401938665
8795560	Calb1	calbindin 1	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:69340	D	RGD:9068941	20200609	RGD			PMID:12204357|REF_RGD_ID:633843
8795560	Calb1	calbindin 1	gene	DOID:3275	thymoma		ISO	RGD:732083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8795560	Calb1	calbindin 1	gene	DOID:4362	cervical cancer		ISO	RGD:732083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8795560	Calb1	calbindin 1	gene	DOID:557	kidney disease		ISO	RGD:732083	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21258088|PMID:21865292
8795560	Calb1	calbindin 1	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:69340	D	RGD:9068941	20231230	RGD			PMID:22428005|REF_RGD_ID:401940127
8795560	Calb1	calbindin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8795575	Csrnp3	cysteine and serine rich nuclear protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1605039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8795575	Csrnp3	cysteine and serine rich nuclear protein 3	gene	DOID:303	substance-related disorder		ISO	RGD:1605039	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8795575	Csrnp3	cysteine and serine rich nuclear protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795575	Csrnp3	cysteine and serine rich nuclear protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8795575	Csrnp3	cysteine and serine rich nuclear protein 3	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1605039	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8795588	Dctd	dCMP deaminase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8795588	Dctd	dCMP deaminase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8795588	Dctd	dCMP deaminase	gene	DOID:1324	lung cancer		ISO	RGD:1349899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8795588	Dctd	dCMP deaminase	gene	DOID:4362	cervical cancer		ISO	RGD:1349899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8795588	Dctd	dCMP deaminase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795588	Dctd	dCMP deaminase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8795598	Pdk1	pyruvate dehydrogenase kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:69480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8795598	Pdk1	pyruvate dehydrogenase kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:69480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8795598	Pdk1	pyruvate dehydrogenase kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:69480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8795598	Pdk1	pyruvate dehydrogenase kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:69480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8795598	Pdk1	pyruvate dehydrogenase kinase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:69480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8795598	Pdk1	pyruvate dehydrogenase kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795598	Pdk1	pyruvate dehydrogenase kinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:69480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8795598	Pdk1	pyruvate dehydrogenase kinase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:69480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8795598	Pdk1	pyruvate dehydrogenase kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8795598	Pdk1	pyruvate dehydrogenase kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:69480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8795640	Spem2	SPEM family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8795656	Guk1	guanylate kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8795656	Guk1	guanylate kinase 1	gene	DOID:0051029	mitochondrial DNA depletion syndrome-21		ISO	RGD:1320084	D	RGD:7240710	20250129	OMIM			
8795656	Guk1	guanylate kinase 1	gene	DOID:0051029	mitochondrial DNA depletion syndrome-21		ISO	RGD:1320084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 21	PMID:25741868|PMID:39230499
8795656	Guk1	guanylate kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8795656	Guk1	guanylate kinase 1	gene	DOID:1909	melanoma		ISO	RGD:1320084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8795656	Guk1	guanylate kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8795656	Guk1	guanylate kinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320084	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8795656	Guk1	guanylate kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320084	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8795656	Guk1	guanylate kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795656	Guk1	guanylate kinase 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1320084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8795656	Guk1	guanylate kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8795656	Guk1	guanylate kinase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1309638	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina (rat)	PMID:17465459|REF_RGD_ID:5147874
8795656	Guk1	guanylate kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8795656	Guk1	guanylate kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8795656	Guk1	guanylate kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8795674	Yrdc	yrdC N6-threonylcarbamoyltransferase domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8795674	Yrdc	yrdC N6-threonylcarbamoyltransferase domain containing	gene	DOID:0061293	Galloway-Mowat syndrome 10		ISO	RGD:1606217	D	RGD:7240710	20211201	OMIM			
8795674	Yrdc	yrdC N6-threonylcarbamoyltransferase domain containing	gene	DOID:0061293	Galloway-Mowat syndrome 10		ISO	RGD:1606217	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 10 | ClinVar Annotator: match by term: YRDC-related condition	PMID:28492532
8795674	Yrdc	yrdC N6-threonylcarbamoyltransferase domain containing	gene	DOID:9003566	Mesothelioma		ISO	RGD:1606217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8795674	Yrdc	yrdC N6-threonylcarbamoyltransferase domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8795674	Yrdc	yrdC N6-threonylcarbamoyltransferase domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8795683	Bik	BCL2 interacting killer	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8795683	Bik	BCL2 interacting killer	gene	DOID:10283	prostate cancer		ISO	RGD:1347683	D	RGD:9068941	20200609	RGD			PMID:14633680|REF_RGD_ID:14394816
8795683	Bik	BCL2 interacting killer	gene	DOID:12704	ataxia telangiectasia	susceptibility	ISO	RGD:1347683	D	RGD:9068941	20200609	RGD		DNA:deletion:intron:IVS4-12delTC(human)	PMID:19898928|REF_RGD_ID:14394817
8795683	Bik	BCL2 interacting killer	gene	DOID:1612	breast cancer		ISO	RGD:1347683	D	RGD:9068941	20200609	RGD			PMID:14633680|REF_RGD_ID:14394816
8795683	Bik	BCL2 interacting killer	gene	DOID:1909	melanoma		ISO	RGD:1347683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8795683	Bik	BCL2 interacting killer	gene	DOID:219	colon cancer	treatment	ISO	RGD:1347683	D	RGD:9068941	20200609	RGD			PMID:17636408|REF_RGD_ID:14394819
8795683	Bik	BCL2 interacting killer	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1347683	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney	PMID:16322756|REF_RGD_ID:14394818
8795683	Bik	BCL2 interacting killer	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8795683	Bik	BCL2 interacting killer	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1347683	D	RGD:9068941	20200609	RGD		associated with cholangiocarcinoma;DNA:CNV::	PMID:16865775|REF_RGD_ID:14394820
8795683	Bik	BCL2 interacting killer	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8795683	Bik	BCL2 interacting killer	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8795692	Slmap	sarcolemma associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8795692	Slmap	sarcolemma associated protein	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1317000	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)	PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098
8795692	Slmap	sarcolemma associated protein	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1317000	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:28492532|PMID:30689869|PMID:30847666|PMID:9536098
8795692	Slmap	sarcolemma associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8795692	Slmap	sarcolemma associated protein	gene	DOID:0060058	lymphoma		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8795692	Slmap	sarcolemma associated protein	gene	DOID:0060319	cardiac arrest		ISO	RGD:1317000	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiac arrest	
8795692	Slmap	sarcolemma associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8795692	Slmap	sarcolemma associated protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8795692	Slmap	sarcolemma associated protein	gene	DOID:1324	lung cancer		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8795692	Slmap	sarcolemma associated protein	gene	DOID:2843	long QT syndrome		ISO	RGD:1317000	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:28492532
8795692	Slmap	sarcolemma associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8795692	Slmap	sarcolemma associated protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8795692	Slmap	sarcolemma associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795692	Slmap	sarcolemma associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8795692	Slmap	sarcolemma associated protein	gene	DOID:9002919	Sudden Unexpected Nocturnal Death Syndrome		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome	PMID:25741868|PMID:28492532
8795692	Slmap	sarcolemma associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8795692	Slmap	sarcolemma associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8795692	Slmap	sarcolemma associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8795745	Arsi	arylsulfatase family member I	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1604953	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8795745	Arsi	arylsulfatase family member I	gene	DOID:12365	malaria		ISO	RGD:1604953	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Malaria, susceptibility to	
8795745	Arsi	arylsulfatase family member I	gene	DOID:1909	melanoma		ISO	RGD:1604953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8795745	Arsi	arylsulfatase family member I	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1604953	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:28492532|PMID:28832565
8795745	Arsi	arylsulfatase family member I	gene	DOID:607	paraplegia		ISO	RGD:1604953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:25741868|PMID:28492532|PMID:34983064
8795766	Rbm43	RNA binding motif protein 43	gene	DOID:10534	stomach cancer		ISO	RGD:1604694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8795766	Rbm43	RNA binding motif protein 43	gene	DOID:4362	cervical cancer		ISO	RGD:1604694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8795766	Rbm43	RNA binding motif protein 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:69136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:10672455|PMID:11085914|PMID:11845238|PMID:12148114|PMID:12161522|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:16249435|PMID:17576681|PMID:17878605|PMID:18528323|PMID:19639018|PMID:20378641|PMID:21163139|PMID:21775974|PMID:22051731|PMID:22706971|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:27234567|PMID:27615128|PMID:28215227|PMID:28420700|PMID:28492532|PMID:29764441|PMID:29927023|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30666461|PMID:31131422|PMID:31198537|PMID:31291970|PMID:31498910|PMID:32266039|PMID:33305128|PMID:33434175|PMID:33532864|PMID:34974531|PMID:35846334|PMID:36613572|PMID:41009948|PMID:9398836|PMID:9536098
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:69136	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young	PMID:10868855|PMID:11845238|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16249435|PMID:16971658|PMID:17337496|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19639018|PMID:20378641|PMID:20603712|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741868|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:28274157|PMID:28492532|PMID:29927023|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:31198537|PMID:31365591|PMID:31825128|PMID:32266039|PMID:33259036|PMID:33532864
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:69136	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young	PMID:10868855|PMID:11845238|PMID:12478351|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16249435|PMID:16801329|PMID:16971658|PMID:17337496|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19639018|PMID:20378641|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24097065|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27913849|PMID:28166811|PMID:28215227|PMID:28251383|PMID:28274157|PMID:28420700|PMID:28492532|PMID:29207974|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:30666461|PMID:31198537|PMID:31365591|PMID:31825128|PMID:32266039|PMID:33259036|PMID:33434175|PMID:33532864|PMID:9398836
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:69136	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young	PMID:10868855|PMID:11845238|PMID:12148114|PMID:12478351|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16249435|PMID:16801329|PMID:16971658|PMID:17337496|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19639018|PMID:20378641|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24097065|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27913849|PMID:28166811|PMID:28215227|PMID:28251383|PMID:28274157|PMID:28420700|PMID:28492532|PMID:29100090|PMID:29207974|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:30666461|PMID:31057226|PMID:31198537|PMID:31365591|PMID:31825128|PMID:32164334|PMID:32266039|PMID:33259036|PMID:33434175|PMID:33532864|PMID:9398836
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:69136	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young	PMID:10868855|PMID:11845238|PMID:12148114|PMID:12478351|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16249435|PMID:16801329|PMID:16971658|PMID:17337496|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19639018|PMID:20378641|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24097065|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27913849|PMID:28215227|PMID:28251383|PMID:28274157|PMID:28420700|PMID:28492532|PMID:29100090|PMID:29207974|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:30666461|PMID:31057226|PMID:31198537|PMID:31365591|PMID:31825128|PMID:32164334|PMID:32266039|PMID:33259036|PMID:33434175|PMID:33532864|PMID:9398836
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:69136	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young	PMID:10868855|PMID:11845238|PMID:12148114|PMID:12478351|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16249435|PMID:16801329|PMID:16971658|PMID:17337496|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19417042|PMID:19639018|PMID:20378641|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24097065|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27913849|PMID:28215227|PMID:28251383|PMID:28274157|PMID:28420700|PMID:28492532|PMID:29100090|PMID:29207974|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:30666461|PMID:31057226|PMID:31198537|PMID:31365591|PMID:31498910|PMID:31825128|PMID:32164334|PMID:32266039|PMID:33259036|PMID:33434175|PMID:33532864|PMID:9398836
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:69136	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young	PMID:10868855|PMID:11845238|PMID:12148114|PMID:12478351|PMID:14583183|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16249435|PMID:16801329|PMID:16971658|PMID:17337496|PMID:18065799|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19417042|PMID:19639018|PMID:20378641|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22114815|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24041679|PMID:24097065|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27913849|PMID:28215227|PMID:28251383|PMID:28274157|PMID:28420700|PMID:28492532|PMID:29100090|PMID:29207974|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30548481|PMID:30655312|PMID:30663027|PMID:30666461|PMID:31057226|PMID:31198537|PMID:31365591|PMID:31498910|PMID:31825128|PMID:32164334|PMID:32266039|PMID:33259036|PMID:33434175|PMID:33532864|PMID:35643372|PMID:36090499|PMID:36549658|PMID:36793123|PMID:9398836
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:69136	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young	PMID:10868855|PMID:11845238|PMID:12148114|PMID:12161522|PMID:12478351|PMID:14583183|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16249435|PMID:16801329|PMID:16971658|PMID:17337496|PMID:17878605|PMID:18065799|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19417042|PMID:19639018|PMID:20378641|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22034641|PMID:22051731|PMID:22114815|PMID:22432796|PMID:22706971|PMID:23979948|PMID:24033266|PMID:24041679|PMID:24097065|PMID:24254850|PMID:24429398|PMID:24476040|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:26319241|PMID:26340261|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27913849|PMID:28215227|PMID:28251383|PMID:28274157|PMID:28420700|PMID:28492532|PMID:29100090|PMID:29207974|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30548481|PMID:30655312|PMID:30663027|PMID:30666461|PMID:31057226|PMID:31131422|PMID:31198537|PMID:31291970|PMID:31365591|PMID:31498910|PMID:31825128|PMID:32164334|PMID:32266039|PMID:33259036|PMID:33434175|PMID:33532864|PMID:35643372|PMID:35846334|PMID:36090499|PMID:36549658|PMID:36793123|PMID:9398836
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:69136	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young	PMID:10868855|PMID:11845238|PMID:12148114|PMID:12161522|PMID:12478351|PMID:14583183|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16249435|PMID:16801329|PMID:16971658|PMID:17337496|PMID:17878605|PMID:18065799|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19417042|PMID:19639018|PMID:20378641|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22034641|PMID:22051731|PMID:22114815|PMID:22432796|PMID:22706971|PMID:23979948|PMID:24033266|PMID:24041679|PMID:24097065|PMID:24254850|PMID:24429398|PMID:24476040|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:26319241|PMID:26340261|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27913849|PMID:28215227|PMID:28251383|PMID:28274157|PMID:28420700|PMID:28453780|PMID:28492532|PMID:29100090|PMID:29207974|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30191644|PMID:30259503|PMID:30476936|PMID:30481753|PMID:30548481|PMID:30655312|PMID:30663027|PMID:30666461|PMID:31057226|PMID:31131422|PMID:31198537|PMID:31291970|PMID:31365591|PMID:31498910|PMID:31825128|PMID:32041611|PMID:32164334|PMID:32266039|PMID:32939031|PMID:33259036|PMID:33305128|PMID:33434175|PMID:33532864|PMID:35643372|PMID:35846334|PMID:36090499|PMID:36208030|PMID:36549658|PMID:36572455|PMID:36613572|PMID:36793123|PMID:9398836
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:69136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Maturity-onset diabetes of the young	PMID:12148114|PMID:12161522|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:16249435|PMID:17878605|PMID:18528323|PMID:19417042|PMID:19639018|PMID:20378641|PMID:21163139|PMID:21775974|PMID:22034641|PMID:22051731|PMID:22706971|PMID:23979948|PMID:24254850|PMID:24476040|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25741167|PMID:25741868|PMID:26319241|PMID:26340261|PMID:26467025|PMID:26552609|PMID:27234567|PMID:27615128|PMID:27913849|PMID:28215227|PMID:28274157|PMID:28420700|PMID:28492532|PMID:29764441|PMID:29927023|PMID:30481753|PMID:30655312|PMID:30666461|PMID:31057226|PMID:31131422|PMID:31198537|PMID:31291970|PMID:31498910|PMID:31825128|PMID:32266039|PMID:33259036|PMID:33434175|PMID:33532864|PMID:33574344|PMID:34974531|PMID:35846334|PMID:36090499|PMID:36522156|PMID:36793123|PMID:37078890|PMID:41009948|PMID:9398836
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:0061118	autosomal dominant tubulointerstitial kidney disease 2		ISO	RGD:69136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal dominant medullary cystic kidney disease with or without hyperuricemia	PMID:12148114|PMID:12161522|PMID:15068978|PMID:17878605|PMID:20378641|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31131422|PMID:33532864|PMID:35846334|PMID:9398836
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:0070732	familial juvenile hyperuricemic nephropathy 3		ISO	RGD:69136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperuricemic nephropathy, familial juvenile type 3	PMID:19639018|PMID:24897035|PMID:25536396|PMID:25741167|PMID:26340261|PMID:27615128|PMID:28215227|PMID:28492532|PMID:33434175
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:0080171	esophageal atresia/tracheoesophageal fistula		ISO	RGD:69136	D	RGD:9068941	20251218	RGD		DNA:SNP:5'UTR: rs3094503	PMID:35199045|REF_RGD_ID:629136806
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:0080204	renal hypoplasia		ISO	RGD:69136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:12148114|PMID:12161522|PMID:15068978|PMID:17878605|PMID:19639018|PMID:20378641|PMID:24897035|PMID:25536396|PMID:25700310|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:27615128|PMID:28215227|PMID:28492532|PMID:31131422|PMID:33434175|PMID:33532864|PMID:35846334|PMID:9398836
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:69136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: TYPE 2 DIABETES MELLITUS | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10672455|PMID:11085914|PMID:11845238|PMID:12148114|PMID:12161522|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:16249435|PMID:17576681|PMID:17878605|PMID:18528323|PMID:19639018|PMID:20378641|PMID:21163139|PMID:21775974|PMID:22051731|PMID:22706971|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:27234567|PMID:27615128|PMID:28215227|PMID:28420700|PMID:28492532|PMID:29764441|PMID:29927023|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30666461|PMID:31131422|PMID:31198537|PMID:31291970|PMID:31498910|PMID:32266039|PMID:33305128|PMID:33434175|PMID:33532864|PMID:34974531|PMID:35846334|PMID:36613572|PMID:41009948|PMID:9398836|PMID:9536098
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:0111101	renal cysts and diabetes syndrome		ISO	RGD:69136	D	RGD:7240710	20180130	OMIM			
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:0111101	renal cysts and diabetes syndrome		ISO	RGD:69136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney | ClinVar Annotator: match by term: MODY5 | ClinVar Annotator: match by term: RENAL CYSTS AND DIABETES SYNDROME | ClinVar Annotator: match by term: Renal cysts and diabetes syndrome	PMID:10484768|PMID:10672455|PMID:10720943|PMID:11085914|PMID:11317673|PMID:11562418|PMID:11845238|PMID:11918730|PMID:12148114|PMID:12161522|PMID:12453420|PMID:12460054|PMID:12478351|PMID:12675839|PMID:15001636|PMID:15068978|PMID:15085338|PMID:15168014|PMID:15181075|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16199547|PMID:16249435|PMID:16371430|PMID:16801329|PMID:16971658|PMID:17116179|PMID:17267738|PMID:17576681|PMID:17878605|PMID:17924661|PMID:18065799|PMID:18249217|PMID:18528323|PMID:18644064|PMID:19389850|PMID:19639018|PMID:20378641|PMID:20543213|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21617276|PMID:21775974|PMID:22034641|PMID:22051731|PMID:22060211|PMID:22114815|PMID:22432796|PMID:22641569|PMID:22706971|PMID:23520208|PMID:23539225|PMID:23926411|PMID:23979948|PMID:24041679|PMID:24097065|PMID:24254850|PMID:24382792|PMID:24387224|PMID:24429398|PMID:24476040|PMID:24897035|PMID:25041077|PMID:25265965|PMID:25367728|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:25754277|PMID:26319241|PMID:26340261|PMID:26467025|PMID:26489027|PMID:26489029|PMID:26899772|PMID:26946416|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27657687|PMID:27913849|PMID:28215227|PMID:28251383|PMID:28420700|PMID:28492532|PMID:28502589|PMID:28593362|PMID:28912863|PMID:29100090|PMID:29207974|PMID:29406598|PMID:29491316|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30143558|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30666461|PMID:30773290|PMID:30791938|PMID:31131422|PMID:31198537|PMID:31291970|PMID:31498910|PMID:31604004|PMID:31825128|PMID:32164334|PMID:32266039|PMID:32708349|PMID:32939031|PMID:33305128|PMID:33434175|PMID:33532864|PMID:33574344|PMID:33663443|PMID:33851123|PMID:34136434|PMID:34462253|PMID:34974531|PMID:35474932|PMID:35733065|PMID:35846334|PMID:36090499|PMID:36294752|PMID:36522156|PMID:36549658|PMID:36573973|PMID:36613572|PMID:36672242|PMID:36777702|PMID:36793123|PMID:37597176|PMID:38054414|PMID:39156164|PMID:40774958|PMID:41009948|PMID:7151342|PMID:9398836|PMID:9536098|PMID:9703339
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:1074	kidney failure		ISO	RGD:69136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:25741868|PMID:28492532|PMID:36090499
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:1115	sarcoma		ISO	RGD:69136	D	RGD:9068941	20250403	CTD		CTD Direct Evidence: marker/mechanism	PMID:39887605
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:11400	pyelonephritis		ISO	RGD:69136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pyelonephritis	PMID:25741868|PMID:37597176|PMID:38054414
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:11664	nephrosclerosis		ISO	RGD:69136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrosclerosis	PMID:25741868|PMID:37597176|PMID:38054414
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:12712	nephronophthisis		ISO	RGD:69136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:16249435|PMID:20378641|PMID:21775974|PMID:22051731|PMID:24254850|PMID:24897035|PMID:25441779|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29927023|PMID:30481753|PMID:30655312|PMID:31198537|PMID:32266039|PMID:33532864|PMID:34974531
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:1793	pancreatic cancer		ISO	RGD:69136	D	RGD:9068941	20250403	CTD		CTD Direct Evidence: marker/mechanism	PMID:39887605
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:2237	hepatitis		ISO	RGD:69136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hepatitis	PMID:11845238|PMID:12453420|PMID:15068978|PMID:15509593|PMID:15930087|PMID:16249435|PMID:17924661|PMID:23979948|PMID:24652735|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26467025|PMID:27838256|PMID:28492532|PMID:31131422|PMID:31595705|PMID:31825128|PMID:33305128|PMID:33574344|PMID:37205953
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:2394	ovarian cancer		ISO	RGD:69136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:26	pancreas disease		ISO	RGD:69136	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:missense, nonsense mutations:cds:multiple (human)	PMID:15068978|REF_RGD_ID:2312751
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:2975	cystic kidney disease		ISO	RGD:69136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868|PMID:37597176|PMID:38054414
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:3068	glioblastoma		ISO	RGD:69136	D	RGD:9068941	20250403	CTD		CTD Direct Evidence: marker/mechanism	PMID:39887605
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:314	tenosynovial giant cell tumor		ISO	RGD:69136	D	RGD:9068941	20250403	CTD		CTD Direct Evidence: marker/mechanism	PMID:39887605
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:4450	renal cell carcinoma		ISO	RGD:69136	D	RGD:7240710	20180130	OMIM			
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:69136	D	RGD:9068941	20250403	CTD		CTD Direct Evidence: marker/mechanism	PMID:39887605
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:557	kidney disease		ISO	RGD:69136	D	RGD:9068941	20200609	RGD		DNA:mutation, deletions::multiple	PMID:16971658|REF_RGD_ID:10402549
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:557	kidney disease		ISO	RGD:69136	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:deletion:cds:multiple (human)	PMID:17971380|REF_RGD_ID:2312749
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:576	proteinuria		ISO	RGD:69136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:19639018|PMID:24897035|PMID:25536396|PMID:25741167|PMID:25741868|PMID:26340261|PMID:27615128|PMID:28215227|PMID:33434175
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:784	chronic kidney disease		ISO	RGD:69136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868|PMID:37597176|PMID:38054414
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:69136	D	RGD:9068941	20250403	CTD		CTD Direct Evidence: marker/mechanism	PMID:39887605
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:69136	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18264096|PMID:18758462
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:69136	D	RGD:9068941	20250403	CTD		CTD Direct Evidence: marker/mechanism	PMID:39887605
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:69136	D	RGD:9068941	20250403	CTD		CTD Direct Evidence: marker/mechanism	PMID:39887605
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:9005161	Thymus Neoplasms		ISO	RGD:69136	D	RGD:9068941	20250403	CTD		CTD Direct Evidence: marker/mechanism	PMID:39887605
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:69136	D	RGD:9068941	20250403	CTD		CTD Direct Evidence: marker/mechanism	PMID:39887605
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:69136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	PMID:19639018|PMID:24897035|PMID:25536396|PMID:25741167|PMID:25741868|PMID:26340261|PMID:27615128|PMID:28215227|PMID:33434175
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:9006727	Polydipsia		ISO	RGD:69136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Polydipsia	PMID:25741868|PMID:28492532|PMID:32440168|PMID:33205868|PMID:39816627
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:69136	D	RGD:9068941	20250403	CTD		CTD Direct Evidence: marker/mechanism	PMID:39887605
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:9008189	Pyelectasis		ISO	RGD:69136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:16249435|PMID:20378641|PMID:21775974|PMID:22051731|PMID:24254850|PMID:24897035|PMID:25441779|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29927023|PMID:30481753|PMID:30655312|PMID:31198537|PMID:32266039|PMID:33532864|PMID:34974531
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:9351	diabetes mellitus		ISO	RGD:69136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:19639018|PMID:24897035|PMID:25536396|PMID:25741167|PMID:25741868|PMID:26340261|PMID:27615128|PMID:28215227|PMID:28492532|PMID:33434175
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69136	D	RGD:7240710	20180130	OMIM			
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69136	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: PPP1R3A-related condition | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus	PMID:12148114|PMID:12161522|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16249435|PMID:17116179|PMID:18249217|PMID:18528323|PMID:18644064|PMID:19639018|PMID:20378641|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24097065|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:27234567|PMID:27615128|PMID:28215227|PMID:28420700|PMID:28453780|PMID:28492532|PMID:29764441|PMID:29927023|PMID:30143558|PMID:30191644|PMID:30476936|PMID:30481753|PMID:30655312|PMID:30666461|PMID:31198537|PMID:31291970|PMID:31498910|PMID:31825128|PMID:32041611|PMID:32266039|PMID:32708349|PMID:33046911|PMID:33434175|PMID:33532864|PMID:33663443|PMID:33851123|PMID:34974531|PMID:36208030|PMID:36613572|PMID:9398836
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: TYPE 2 DIABETES MELLITUS | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus	PMID:10672455|PMID:11085914|PMID:11845238|PMID:12148114|PMID:12161522|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:16249435|PMID:17576681|PMID:17878605|PMID:18528323|PMID:19639018|PMID:20378641|PMID:21163139|PMID:21775974|PMID:22051731|PMID:22706971|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:27234567|PMID:27615128|PMID:28215227|PMID:28420700|PMID:28492532|PMID:29764441|PMID:29927023|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30666461|PMID:31131422|PMID:31198537|PMID:31291970|PMID:31498910|PMID:32266039|PMID:33305128|PMID:33434175|PMID:33532864|PMID:34974531|PMID:35846334|PMID:36613572|PMID:41009948|PMID:9398836|PMID:9536098
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:69136	D	RGD:9068941	20200609	RGD			PMID:15883474|REF_RGD_ID:2312750
8795773	Hnf1b	HNF1 homeobox B	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:69136	D	RGD:9068941	20200609	RGD		renal cysts and diabetes syndrome, OMIM:137920;DNA:splice-site mutation:intron:IVS2+1G>A	PMID:11317673|REF_RGD_ID:1601484
8795800	Sbf2	SET binding factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8795800	Sbf2	SET binding factor 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1354184	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy	PMID:10932274|PMID:12687498|PMID:15304601|PMID:16199547|PMID:17576681|PMID:25741868|PMID:25873783|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532|PMID:32376792|PMID:9536098
8795800	Sbf2	SET binding factor 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1354184	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV	PMID:12687498|PMID:16199547|PMID:17576681|PMID:25741868|PMID:25873783|PMID:26467025|PMID:28492532|PMID:9536098
8795800	Sbf2	SET binding factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8795800	Sbf2	SET binding factor 2	gene	DOID:0110190	Charcot-Marie-Tooth disease type 4B2		ISO	RGD:1354184	D	RGD:7240710	20180130	OMIM			
8795800	Sbf2	SET binding factor 2	gene	DOID:0110190	Charcot-Marie-Tooth disease type 4B2		ISO	RGD:1354184	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4B2	PMID:12687498|PMID:25741868|PMID:25873783|PMID:26467025|PMID:28492532
8795800	Sbf2	SET binding factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8795800	Sbf2	SET binding factor 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1354184	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10932274|PMID:12687498|PMID:15304601|PMID:15477569|PMID:17576681|PMID:21840889|PMID:22730194|PMID:24627108|PMID:25231362|PMID:25741868|PMID:25873783|PMID:26467025|PMID:28440294|PMID:28492532|PMID:29590070|PMID:31070812|PMID:32376792|PMID:32906206|PMID:33726816|PMID:34169998|PMID:37091313|PMID:9521281|PMID:9536098
8795800	Sbf2	SET binding factor 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:12687498|PMID:17576681|PMID:21840889|PMID:24627108|PMID:25231362|PMID:25741868|PMID:25873783|PMID:26467025|PMID:28492532|PMID:31070812|PMID:32376792|PMID:9536098
8795800	Sbf2	SET binding factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8795800	Sbf2	SET binding factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8795800	Sbf2	SET binding factor 2	gene	DOID:12849	autistic disorder		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
8795800	Sbf2	SET binding factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8795800	Sbf2	SET binding factor 2	gene	DOID:1909	melanoma		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
8795800	Sbf2	SET binding factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8795800	Sbf2	SET binding factor 2	gene	DOID:3275	thymoma		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8795800	Sbf2	SET binding factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1354184	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8795800	Sbf2	SET binding factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795800	Sbf2	SET binding factor 2	gene	DOID:630	genetic disease		ISO	RGD:1354184	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12687498|PMID:25741868|PMID:25873783|PMID:26467025|PMID:28492532
8795800	Sbf2	SET binding factor 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8795800	Sbf2	SET binding factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8795800	Sbf2	SET binding factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8795800	Sbf2	SET binding factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8795844	Fnbp1	formin binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8795844	Fnbp1	formin binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1350700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8795844	Fnbp1	formin binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1350700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8795844	Fnbp1	formin binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8795844	Fnbp1	formin binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350700	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8795844	Fnbp1	formin binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795844	Fnbp1	formin binding protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1350700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8795844	Fnbp1	formin binding protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350700	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8795844	Fnbp1	formin binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8795844	Fnbp1	formin binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8795844	Fnbp1	formin binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8795844	Fnbp1	formin binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:0050473	Alstrom syndrome		ISO	RGD:737465	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Alstrom syndrome	PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30250467
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:737465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437031
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:0060025	immunoglobulin alpha deficiency	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype: :rs231770,rs16840252,rs231775(human)	PMID:19020530|REF_RGD_ID:11344917
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:0060060	non-Hodgkin lymphoma	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:49G>A(human)	PMID:15114591|REF_RGD_ID:11352244
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:737465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26258847
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:0060180	colitis		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colitis	PMID:25741868|PMID:28492532|PMID:29375547|PMID:31156616|PMID:31396201
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:0060704	lymphoproliferative syndrome		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoproliferative disorder	PMID:25741868
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:0070658	alcohol-associated liver disease	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP::-318 T>C(rs5742909)(human)	PMID:15208156|REF_RGD_ID:14398728
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:0080162	lupus nephritis		ISO	RGD:737465	D	RGD:9068941	20200609	RGD			PMID:15146424|REF_RGD_ID:7204726
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:0080846	latent autoimmune diabetes in adults		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP: :49A>G (human)	PMID:12021137|REF_RGD_ID:2301997
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:0081120	Graves ophthalmopathy		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		associated with Graves Disease; DNA:SNP:promoter:-318C>T (human)	PMID:16893393|REF_RGD_ID:7421511
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:0081120	Graves ophthalmopathy	no_association	ISO	RGD:737465	D	RGD:9068941	20200609	RGD			PMID:22663548|REF_RGD_ID:7421521
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:0081120	Graves ophthalmopathy	severity	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:19734241|REF_RGD_ID:7421523
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:737465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:14642129
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:0081267	graft-versus-host disease	treatment	ISO	RGD:737465	D	RGD:9068941	20200609	RGD			PMID:7515723|REF_RGD_ID:11344912
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:0081267	graft-versus-host disease	treatment	ISO	RGD:737466	D	RGD:9068941	20200609	RGD			PMID:7515723|REF_RGD_ID:11344912
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:0110751	type 1 diabetes mellitus 12		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 1 diabetes mellitus 12	PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614|PMID:34329649
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:10325	silicosis		ISO	RGD:737465	D	RGD:9068941	20200609	RGD			PMID:16831302|REF_RGD_ID:4891515
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:10608	celiac disease		ISO	RGD:737465	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Celiac disease, susceptibility to, 3 | ClinVar Annotator: match by term: GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 3	PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614|PMID:34329649
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:10608	celiac disease	susceptibility	ISO	RGD:737465	D	RGD:9068941	20250925	RGD		DNA:SNPs,haplotype: :rs231770,rs231775(human)	PMID:19020530|REF_RGD_ID:11344917
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:11168	anogenital venereal wart		ISO	RGD:737465	D	RGD:9068941	20201105	RGD		mRNA,protein:increased expression:multiple (human)	PMID:23754510|REF_RGD_ID:40400714
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:11335	sarcoidosis		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon (human)	PMID:14620161|REF_RGD_ID:4891520
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12132	granulomatosis with polyangiitis		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:promoter,exon::-318C>T, (AT)repeats (human)	PMID:12022356|REF_RGD_ID:7204724
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12236	primary biliary cholangitis	disease_progression	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs231775, rs3087243, rs231725 (human)	PMID:21594562|REF_RGD_ID:14398743
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12236	primary biliary cholangitis	no_association	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:49A>G(human)	PMID:17482523|REF_RGD_ID:14398725
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12236	primary biliary cholangitis	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:60G>A(rs3087243)(human)	PMID:16584111|REF_RGD_ID:14398744
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12236	primary biliary cholangitis	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002)	PMID:10782900|REF_RGD_ID:2301998
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12306	vitiligo		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		associated with Autoimmune Diseases;DNA:polymorphisms: :	PMID:15649153|REF_RGD_ID:7411687
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12306	vitiligo	no_association	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNPs:multiple:	PMID:18200060|REF_RGD_ID:7411697
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12306	vitiligo	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP:3'UTR:rs3087243(human)	PMID:21794098|REF_RGD_ID:7411696
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12306	vitiligo	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:+49A>G rs231775)(human)	PMID:19129082|REF_RGD_ID:7411699
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12361	Graves' disease		ISO	RGD:737465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19731979|PMID:21841780|PMID:23104008
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12361	Graves' disease		ISO	RGD:737465	D	RGD:9068941	20200609	RGD			PMID:10369864|REF_RGD_ID:1300388
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12361	Graves' disease		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-318C>T (human)	PMID:9672157|REF_RGD_ID:2302001
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12361	Graves' disease	no_association	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-318C>T (human)	PMID:9861324|REF_RGD_ID:2302000
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP: :-318C>T(rs11571302)(human)	PMID:14986169|REF_RGD_ID:7421515
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs231779(human)	PMID:20352109|REF_RGD_ID:7421517
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNPs: :49G>A (rs231775),rs3087243,(AT)n-3'UTR(human)	PMID:15785242|REF_RGD_ID:7421507
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon,intron:49A>G (rs231775),1822C>T(human)	PMID:12780750|REF_RGD_ID:7421505
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:49G>A(human)	PMID:10404810|REF_RGD_ID:11352245
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12365	malaria	disease_progression	ISO	RGD:737465	D	RGD:9068941	20200807	RGD			PMID:28892065|REF_RGD_ID:38455986
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12365	malaria	treatment	ISO	RGD:737466	D	RGD:9068941	20200807	RGD			PMID:28892065|REF_RGD_ID:38455986
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12549	hepatitis A	disease_progression	ISO	RGD:737465	D	RGD:9068941	20201127	RGD			PMID:26347518|REF_RGD_ID:40818419
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		mRNA:increased expression:salivary gland:	PMID:12528117|REF_RGD_ID:7421519
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:12894	Sjogren's syndrome	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype: :+49A/G (rs231775),(rs3087243)(human)	PMID:16869018|REF_RGD_ID:7421506
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:13241	Behcet's disease		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNPs: :1661A>G,49C>A(human)	PMID:19563524|REF_RGD_ID:7411682
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:13250	diarrhea		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:31156616
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:13316	exocrine pancreatic insufficiency		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exocrine pancreatic insufficiency	PMID:27908448|PMID:28492532|PMID:35999394|PMID:37740092
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:1394	urinary schistosomiasis	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNPs:multiple:Gabonese(human)	PMID:22288822|REF_RGD_ID:7204674
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:1612	breast cancer		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SPNs:multiple:	PMID:17825114|REF_RGD_ID:7421502
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:1612	breast cancer		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:20482250|REF_RGD_ID:7411684
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:1749	squamous cell carcinoma	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs3087243(human)	PMID:19622768|REF_RGD_ID:7411686
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:1909	melanoma		ISO	RGD:737465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21802280
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:1909	melanoma	treatment	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNPs: :-11577G>A,rs3087243(human)	PMID:23641913|REF_RGD_ID:7411681
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:2043	hepatitis B	disease_progression	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNPs: :-1722T>C(rs733618), 49A>G(rs231775)6230G>A(rs3087243)(human)	PMID:15452244|REF_RGD_ID:14398731
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:2048	autoimmune hepatitis	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNPs:exons:49A>G (rs231775), CT60 C > T(rs3087243)(human)	PMID:30320190|REF_RGD_ID:14398726
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:2237	hepatitis		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatitis	PMID:25741868|PMID:28492532|PMID:29375547|PMID:31396201
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:224	transient cerebral ischemia		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Transient ischemic attack	PMID:27908448|PMID:28492532|PMID:35999394|PMID:37740092
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:2377	multiple sclerosis		ISO	RGD:737465	D	RGD:9068941	20200609	RGD			PMID:10082437|REF_RGD_ID:1358538
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:2377	multiple sclerosis		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs3087243,rs11571302(human)	PMID:19740340|REF_RGD_ID:7411672
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:2377	multiple sclerosis	no_association	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:49A>G (human)	PMID:17942509|REF_RGD_ID:2301975
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:2513	basal cell carcinoma	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs3087243(human)	PMID:19622768|REF_RGD_ID:7411686
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:2773	contact dermatitis		ISO	RGD:737466	D	RGD:9068941	20200609	RGD			PMID:11348467|REF_RGD_ID:7421503
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:2841	asthma		ISO	RGD:737465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28807506
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:2841	asthma		ISO	RGD:737465	D	RGD:9068941	20200609	RGD			PMID:16708626|PMID:18699801|REF_RGD_ID:4891510|REF_RGD_ID:4891516
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:2841	asthma		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs3087243 (human)	PMID:19895365|REF_RGD_ID:4891526
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:2841	asthma		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple (human)	PMID:15316504|REF_RGD_ID:4891519
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:2841	asthma		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:promoter, exon:-318C>T 49A>G (human)	PMID:17469155|REF_RGD_ID:4891527
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:2841	asthma		ISO	RGD:737466	D	RGD:9068941	20200609	RGD			PMID:12956753|PMID:16677453|PMID:17237396|REF_RGD_ID:4891514|REF_RGD_ID:4891517|REF_RGD_ID:4891521
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:2841	asthma	no_association	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter, exon:-1147C>T, -318C>T, 49A>G (human)	PMID:16926542|REF_RGD_ID:4891528
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:2841	asthma	severity	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-318C>T (human)	PMID:12114354|REF_RGD_ID:4891522
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:2841	asthma	severity	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15871446|REF_RGD_ID:4891529
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:2841	asthma	treatment	ISO	RGD:737466	D	RGD:9068941	20200609	RGD			PMID:11726402|REF_RGD_ID:11344922
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:737465	D	RGD:9068941	20200609	RGD			PMID:21129004|REF_RGD_ID:4891499
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP: :-318C>T (rs5742909) (human)	PMID:20732370|REF_RGD_ID:4891504
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:321	HTLV-1-associated myelopathy/tropical spastic paraparesis		ISO	RGD:737465	D	RGD:9068941	20200831	RGD		mRNA:decreased expression: T cell	PMID:20945034|REF_RGD_ID:38549361
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:3310	atopic dermatitis		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood:	PMID:22357516|REF_RGD_ID:7411700
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:3310	atopic dermatitis	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP,haplotype:exon,3'UTR:rs3087243,rs231775 (human)	PMID:16445777|REF_RGD_ID:7411698
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:4029	gastritis		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic gastritis	PMID:25741868|PMID:28492532|PMID:29375547|PMID:31396201
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:4450	renal cell carcinoma		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNPs:exons:rs3087243, rs231775 (human)	PMID:17678726|REF_RGD_ID:7204723
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:4481	allergic rhinitis		ISO	RGD:737465	D	RGD:9068941	20260305	RGD		DNA:SNPs: :multiple	PMID:23663310|REF_RGD_ID:635060375
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:4481	allergic rhinitis	treatment	ISO	RGD:737466	D	RGD:9068941	20200609	RGD			PMID:10436391|REF_RGD_ID:11344920
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:4483	rhinitis		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		protein:increased expression:T cell	PMID:17625281|REF_RGD_ID:4891512
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:737465	D	RGD:9068941	20200609	RGD			PMID:10712436|REF_RGD_ID:6902936
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:737466	D	RGD:9068941	20200609	RGD			PMID:10712436|REF_RGD_ID:6902936
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:4780	anti-basement membrane glomerulonephritis	treatment	ISO	RGD:737465	D	RGD:9068941	20200609	RGD			PMID:8206086|REF_RGD_ID:11352257
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:552	pneumonia		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:25741868|PMID:28492532|PMID:29375547|PMID:31396201
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:557	kidney disease	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		associated with Purpura, Schoenlein-Henoch;DNA:polymorphism:exon:49A>G(human)	PMID:22700162|REF_RGD_ID:11344910
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:574	peripheral nervous system disease		ISO	RGD:737465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21228734
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:5773	oral submucous fibrosis		ISO	RGD:737465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16311067
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:5844	myocardial infarction		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:49A>G (human)	PMID:17652883|REF_RGD_ID:2301976
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:737465	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:25329329|PMID:25741868|PMID:28492532|PMID:30250467|PMID:32499645|PMID:35753512|PMID:35999394
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:630	genetic disease		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27908448|PMID:28492532|PMID:35999394|PMID:37740092
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:737465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		protein:increased expression:CD4+ and CD8+ T cells:	PMID:28648905|REF_RGD_ID:14398741
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs231775,rs231725(human)	PMID:23432218|REF_RGD_ID:14398742
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:737465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20453842|PMID:23143596
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:718	autoimmune hemolytic anemia		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoimmune hemolytic anemia	PMID:25741868|PMID:28492532|PMID:29375547|PMID:31156616|PMID:31396201
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:718	autoimmune hemolytic anemia	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:49G>A(p.T17A)(human)	PMID:12555221|REF_RGD_ID:11352242
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hashimoto thyroiditis	PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614|PMID:34329649
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:7188	autoimmune thyroiditis	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP: :-318C>T(rs11571302)(human)	PMID:14986169|REF_RGD_ID:7421515
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:7442	monoclonal gammopathy of uncertain significance	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:microsatellite polymorphism:exon: :	PMID:11167807|REF_RGD_ID:11352247
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:783	end stage renal disease		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		associated with Wegener Granulomatosis;DNA:polymorphisms:promoter,exon::-318C>T, (AT)repeats (human)	PMID:15708894|REF_RGD_ID:7204725
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:820	myocarditis		ISO	RGD:61975	D	RGD:9068941	20200609	RGD			PMID:16198253|REF_RGD_ID:7204512
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:850	lung disease		ISO	RGD:737466	D	RGD:9068941	20200609	RGD		Acute Lung Injury	PMID:20385880|REF_RGD_ID:4891507
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:8544	chronic fatigue syndrome		ISO	RGD:737465	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: chronic fatigue syndrome with infection-triggered onset	PMID:25741868|PMID:28492532
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:8893	psoriasis	treatment	ISO	RGD:737465	D	RGD:9068941	20200609	RGD			PMID:10974034|REF_RGD_ID:7411683
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:737466	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms	PMID:10611340|REF_RGD_ID:4891523
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9000351	Diarrhea 9		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25213377|PMID:25741868|PMID:28492532|PMID:29375547|PMID:31396201
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:49A>G (human)	PMID:12114354|REF_RGD_ID:4891522
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:27908448|PMID:28492532|PMID:35999394|PMID:37740092
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:737465	D	RGD:9068941	20200609	RGD			PMID:18049334|REF_RGD_ID:7204722
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:737466	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Experimental	PMID:15701862|REF_RGD_ID:4891518
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9001981	Weight Loss		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:28492532
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:plasma:	PMID:18026823|REF_RGD_ID:2312302
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:737465	D	RGD:9068941	20200609	RGD			PMID:15914560|REF_RGD_ID:11352246
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		protein:increased expression:T cell	PMID:16094420|REF_RGD_ID:11344923
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737466	D	RGD:9068941	20200609	RGD			PMID:9223321|REF_RGD_ID:4891524
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:737465	D	RGD:9068941	20200609	RGD			PMID:7543497|REF_RGD_ID:7204519
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:61975	D	RGD:9068941	20200609	RGD			PMID:22354915|REF_RGD_ID:7204500
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9002524	Asparagine Synthetase Deficiency		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asparagine synthetase deficiency	PMID:25741868|PMID:28492532|PMID:29729943|PMID:33864888
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9002720	Splenomegaly		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:27102614|PMID:28492532|PMID:28960754|PMID:29729943|PMID:30443250|PMID:31955317|PMID:31993940|PMID:32623363|PMID:36160072
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9002720	Splenomegaly	treatment	ISO	RGD:737466	D	RGD:9068941	20200609	RGD			PMID:10676886|REF_RGD_ID:14398737
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:737465	D	RGD:9068941	20200609	RGD			PMID:9379015|REF_RGD_ID:6902906
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9002805	Enterocolitis	treatment	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		associated with cancers;	PMID:16710025|REF_RGD_ID:14398729
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9003819	Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNPs:exons:rs3087243, rs231775 Caucasian(human)	PMID:19815671|REF_RGD_ID:7204687
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP,haplotype:exon,promoter:49A>G,-318 T>C(human)	PMID:12696006|REF_RGD_ID:14398739
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9004118	Experimental Melanoma	treatment	ISO	RGD:737465	D	RGD:9068941	20200609	RGD			PMID:24041689|REF_RGD_ID:7411680
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9004150	Lymphadenopathy		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphadenopathy	PMID:25741868|PMID:28492532|PMID:29375547|PMID:31396201
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9004150	Lymphadenopathy	treatment	ISO	RGD:737466	D	RGD:9068941	20200609	RGD			PMID:10676886|REF_RGD_ID:14398737
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9004236	Autoimmune Hypothyroidism		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HYPOTHYROIDISM, AUTOIMMUNE	PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614|PMID:34329649
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9004283	Transplant Rejection		ISO	RGD:61975	D	RGD:9068941	20200609	RGD			PMID:18074399|REF_RGD_ID:7204518
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9004283	Transplant Rejection		ISO	RGD:737465	D	RGD:9068941	20200609	RGD			PMID:14551031|REF_RGD_ID:7204516
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9004283	Transplant Rejection		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs733618, chinese(human)	PMID:22418270|REF_RGD_ID:7204671
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9004283	Transplant Rejection		ISO	RGD:737466	D	RGD:9068941	20200609	RGD			PMID:12096784|REF_RGD_ID:7204515
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9004283	Transplant Rejection	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs231775, korean(human)	PMID:20940051|REF_RGD_ID:7204678
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:27908448|PMID:28492532|PMID:35999394|PMID:37740092
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9005167	Cryptogenic Cirrhosis	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP: :-318C>T(human)	PMID:18049163|REF_RGD_ID:14398738
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9005372	Inflammation		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		associated with Silicosis;protein:increased expression:T cell	PMID:21072213|REF_RGD_ID:4891500
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9005647	Experimental Autoimmune Uveitis		ISO	RGD:737465	D	RGD:9068941	20200609	RGD			PMID:11481266|REF_RGD_ID:7421509
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9005647	Experimental Autoimmune Uveitis		ISO	RGD:737466	D	RGD:9068941	20200609	RGD			PMID:14528321|REF_RGD_ID:7204514
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:737465	D	RGD:9068941	20200609	RGD			PMID:9407517|REF_RGD_ID:7204727
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:737466	D	RGD:9068941	20200609	RGD			PMID:22189844|REF_RGD_ID:7204675
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9007355	Hashimoto Disease		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hashimoto Disease	PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614|PMID:34329649
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9007355	Hashimoto Disease	susceptibility	ISO	RGD:737465	D	RGD:9068941	20250925	RGD		DNA:SNP:cds:+49A/G (rs231775)(human)	PMID:18752454|REF_RGD_ID:7421513
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9007445	Autoimmune Lymphoproliferative Syndrome, Type V		ISO	RGD:737465	D	RGD:7240710	20250924	OMIM			
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9007445	Autoimmune Lymphoproliferative Syndrome, Type V		ISO	RGD:737465	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V | ClinVar Annotator: match by term: CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION | ClinVar Annotator: match by term: CTLA4-related condition | ClinVar Annotator: match by term: IMMUNE DYSREGULATION WITH AUTOIMMUNITY, IMMUNODEFICIENCY, AND LYMPHOPROLIFERATION	PMID:16199547|PMID:24033266|PMID:25213377|PMID:25329329|PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:29200144|PMID:29330115|PMID:29729943|PMID:30250467|PMID:30377434|PMID:30940614|PMID:32181586|PMID:32499327|PMID:32499645|PMID:34234304|PMID:34975878|PMID:35753512|PMID:35999394
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9007651	Chronic Bronchitis		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple (human)	PMID:19386687|REF_RGD_ID:4891509
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9007661	Dwarfism		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9008163	Chronic Hepatitis B	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP: :-318C>T(human)	PMID:16489681|REF_RGD_ID:14398727
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Systemic lupus erythematosus	PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614|PMID:34329649
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9074	systemic lupus erythematosus	disease_progression	ISO	RGD:737466	D	RGD:9068941	20200609	RGD			PMID:19966213|REF_RGD_ID:7204684
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP:3'UTR:rs3087243(human)	PMID:19092854|REF_RGD_ID:11344911
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9383	iridocyclitis		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :-318C>T,(AT)16(human)	PMID:17287608|REF_RGD_ID:7421512
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9538	multiple myeloma	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:microsatellite polymorphism:exon: :	PMID:11167807|REF_RGD_ID:11352247
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:737465	D	RGD:9068941	20200609	RGD			PMID:9259273|REF_RGD_ID:1300385
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS, 3' utr:49G>A (rs231775), rs3087243 (human)	PMID:18443194|REF_RGD_ID:2301974
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:49A>G, G allele significantly associated with T1DM in  Italian and Spanish populations (p=0.004 for individual populations, p=0.0001 for combined I+S)	PMID:8817351|REF_RGD_ID:2301958
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1661A>G (human)	PMID:16671945|REF_RGD_ID:2301995
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:986	alopecia areata		ISO	RGD:737465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20596022
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:986	alopecia areata	susceptibility	ISO	RGD:737465	D	RGD:9068941	20200609	RGD		DNA:SNP:3'UTR:rs3087243(human)	PMID:23567921|REF_RGD_ID:7411701
8795868	Ctla4	cytotoxic T-lymphocyte associated protein 4	gene	DOID:9970	obesity		ISO	RGD:737465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:27908448|PMID:28492532|PMID:35999394|PMID:37740092
8795894	Fcamr	Fc alpha and mu receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605024	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8795894	Fcamr	Fc alpha and mu receptor	gene	DOID:1909	melanoma		ISO	RGD:1605024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8795894	Fcamr	Fc alpha and mu receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8795894	Fcamr	Fc alpha and mu receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8795894	Fcamr	Fc alpha and mu receptor	gene	DOID:9256	colorectal cancer		ISO	RGD:1605024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8795904	Saxo1	stabilizer of axonemal microtubules 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8795904	Saxo1	stabilizer of axonemal microtubules 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8795904	Saxo1	stabilizer of axonemal microtubules 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8795915	Ubtd2	ubiquitin domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8795915	Ubtd2	ubiquitin domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8795915	Ubtd2	ubiquitin domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1601834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8795915	Ubtd2	ubiquitin domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1601834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8795915	Ubtd2	ubiquitin domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8795915	Ubtd2	ubiquitin domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1601834	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8795915	Ubtd2	ubiquitin domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795915	Ubtd2	ubiquitin domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8795922	Hgh1	HGH1 cochaperone	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8795922	Hgh1	HGH1 cochaperone	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8795932	Rarres1	retinoic acid receptor responder 1	gene	DOID:0050873	follicular lymphoma		ISO	RGD:1551283	D	RGD:9068941	20220825	MouseDO		OMIM:151430	
8795932	Rarres1	retinoic acid receptor responder 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8795932	Rarres1	retinoic acid receptor responder 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8795932	Rarres1	retinoic acid receptor responder 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8795932	Rarres1	retinoic acid receptor responder 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795932	Rarres1	retinoic acid receptor responder 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8795932	Rarres1	retinoic acid receptor responder 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1319886	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16134180
8795932	Rarres1	retinoic acid receptor responder 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1319886	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8795932	Rarres1	retinoic acid receptor responder 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:0050331	lacrimoauriculodentodigital syndrome 1		ISO	RGD:734330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LADD syndrome 1	PMID:25741868
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:0080395	orofacial cleft 1		ISO	RGD:734330	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Orofacial cleft 1	PMID:25741868
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:0081370	LADD syndrome		ISO	RGD:734330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Levy-Hollister syndrome	PMID:17213838|PMID:25741868
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:0081372	lacrimoauriculodentodigital syndrome 3		ISO	RGD:734330	D	RGD:7240710	20230125	OMIM			
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:0081372	lacrimoauriculodentodigital syndrome 3		ISO	RGD:734330	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LADD SYNDROME 3 | ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3	PMID:25741868
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:0111549	aplasia of lacrimal and salivary glands		ISO	RGD:734330	D	RGD:7240710	20180130	OMIM			
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:0111549	aplasia of lacrimal and salivary glands		ISO	RGD:734330	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: APLASIA OF LACRIMAL AND SALIVARY GLANDS | ClinVar Annotator: match by term: FGF10-related condition	PMID:15654336|PMID:25741868
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:10486	intestinal atresia		ISO	RGD:10578	D	RGD:9068941	20220825	MouseDO			
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:10533	viral pneumonia		ISO	RGD:10578	D	RGD:9068941	20210611	RGD			PMID:27322618|REF_RGD_ID:127284849
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:10533	viral pneumonia	treatment	ISO	RGD:10578	D	RGD:9068941	20210611	RGD			PMID:27322618|REF_RGD_ID:127284849
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:10787	premature menopause	treatment	ISO	RGD:10578	D	RGD:9068941	20210528	RGD			PMID:27679811|REF_RGD_ID:126928135
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:10892	hypospadias		ISO	RGD:2606	D	RGD:9068941	20200609	RGD			PMID:19464577|REF_RGD_ID:2314151
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:3082	interstitial lung disease		ISO	RGD:734330	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Interstitial lung disease specific to childhood	PMID:25741868
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:3151	skin squamous cell carcinoma		ISO	RGD:10578	D	RGD:9068941	20210528	RGD		Pten conditional KO mouse	PMID:24582960|REF_RGD_ID:126928134
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:3178	skin papilloma		ISO	RGD:10578	D	RGD:9068941	20210528	RGD		protein:increased expression:skin (mouse)	PMID:24582960|REF_RGD_ID:126928134
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:734330	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:630	genetic disease		ISO	RGD:734330	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17213838|PMID:25741868|PMID:28492532
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:674	cleft palate		ISO	RGD:734330	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17963255
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:2606	D	RGD:9068941	20210618	RGD			PMID:11952999|REF_RGD_ID:127284874
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:734330	D	RGD:9068941	20210528	RGD		human protein in mouse model	PMID:10381813|REF_RGD_ID:126928132
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:734330	D	RGD:9068941	20210528	RGD		human protein in mouse model with bacterial delivery system	PMID:19736360|REF_RGD_ID:126928133
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:734330	D	RGD:9068941	20210611	RGD		human gene product in mouse model	PMID:23676805|REF_RGD_ID:127284855
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:9000656	Penetrating Wounds	treatment	ISO	RGD:734330	D	RGD:9068941	20210528	RGD		human protein in rat model	PMID:10417753|REF_RGD_ID:126928129
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:9000955	Acute Otitis Media		ISO	RGD:10578	D	RGD:9068941	20210611	RGD		mRNA:decreased expression:middle ear (mouse)	PMID:21889218|REF_RGD_ID:127284853
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:734330	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743467
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:9002488	Peritoneal Fibrosis		ISO	RGD:10578	D	RGD:9068941	20210528	RGD		mRNA:decreased expression:peritoneum (mouse)	PMID:31431501|REF_RGD_ID:126928131
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:9002488	Peritoneal Fibrosis	treatment	ISO	RGD:10578	D	RGD:9068941	20210528	RGD		miR-145 inhibitor	PMID:31431501|REF_RGD_ID:126928131
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:2606	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mammary gland	PMID:18421211|REF_RGD_ID:2292665
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:734330	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438407
8795955	Fgf10	fibroblast growth factor 10	gene	DOID:9296	cleft lip		ISO	RGD:734330	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17963255
8795970	Miox	myo-inositol oxygenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8795970	Miox	myo-inositol oxygenase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8795970	Miox	myo-inositol oxygenase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8795970	Miox	myo-inositol oxygenase	gene	DOID:5041	esophageal cancer		ISO	RGD:737368	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8795970	Miox	myo-inositol oxygenase	gene	DOID:557	kidney disease		ISO	RGD:737368	D	RGD:9068941	20251009	CTD		CTD Direct Evidence: marker/mechanism	PMID:35100813
8795989	Clec19a	C-type lectin domain containing 19A	gene	DOID:4362	cervical cancer		ISO	RGD:5484502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8795989	Clec19a	C-type lectin domain containing 19A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:5484502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795989	Clec19a	C-type lectin domain containing 19A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:5484502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8795990	Egfr	epidermal growth factor receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:69152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8795990	Egfr	epidermal growth factor receptor	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25200834
8795990	Egfr	epidermal growth factor receptor	gene	DOID:0050657	Cowden syndrome 1		ISO	RGD:69152	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cowden syndrome 1	
8795990	Egfr	epidermal growth factor receptor	gene	DOID:0050742	nicotine dependence		ISO	RGD:2543	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung (rat)	PMID:21475988|REF_RGD_ID:5131452
8795990	Egfr	epidermal growth factor receptor	gene	DOID:0050865	tongue squamous cell carcinoma	treatment	ISO	RGD:10511	D	RGD:9068941	20200609	RGD			PMID:19380367|REF_RGD_ID:8551769
8795990	Egfr	epidermal growth factor receptor	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:69152	D	RGD:9068941	20210423	RGD			PMID:11673832|REF_RGD_ID:126781761
8795990	Egfr	epidermal growth factor receptor	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:69152	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebral arteriovenous malformation	PMID:25741868
8795990	Egfr	epidermal growth factor receptor	gene	DOID:0061191	neonatal nephrocutaneous inflammatory syndrome		ISO	RGD:69152	D	RGD:7240710	20260729	OMIM			
8795990	Egfr	epidermal growth factor receptor	gene	DOID:0061191	neonatal nephrocutaneous inflammatory syndrome		ISO	RGD:69152	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal, 2 | ClinVar Annotator: match by term: NEONATAL NEPHROCUTANEOUS INFLAMMATORY SYNDROME	PMID:20823418|PMID:21531810|PMID:21573507|PMID:21841502|PMID:24691054|PMID:25741868|PMID:26070531|PMID:26436111|PMID:26467025|PMID:26773740|PMID:28492532|PMID:28676220|PMID:28726809|PMID:29899996|PMID:30429037|PMID:31175009|PMID:32190291|PMID:32602142|PMID:35982160|PMID:7630400
8795990	Egfr	epidermal growth factor receptor	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:10511	D	RGD:9068941	20200917	RGD			PMID:30502657|REF_RGD_ID:38599215
8795990	Egfr	epidermal growth factor receptor	gene	DOID:0080599	Coronavirus infectious disease		ISO	RGD:10511	D	RGD:9068941	20220825	MouseDO			
8795990	Egfr	epidermal growth factor receptor	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:69152	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27-altered	PMID:25741868|PMID:28492532|PMID:33326033|PMID:35980532
8795990	Egfr	epidermal growth factor receptor	gene	DOID:0080855	Parkinsonism		ISO	RGD:2543	D	RGD:9068941	20200609	RGD		protein:decreased expression:striatum	PMID:15857400|REF_RGD_ID:2289955
8795990	Egfr	epidermal growth factor receptor	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:69152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:15788655|PMID:17177598|PMID:17236554|PMID:24705251|PMID:27993330|PMID:28912153|PMID:28966033|PMID:29141884|PMID:29533785|PMID:29763623|PMID:32303840|PMID:33130881|PMID:35332262|PMID:36882456
8795990	Egfr	epidermal growth factor receptor	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9486961
8795990	Egfr	epidermal growth factor receptor	gene	DOID:10283	prostate cancer		ISO	RGD:69152	D	RGD:9068941	20200609	RGD			PMID:18467313|REF_RGD_ID:2293731
8795990	Egfr	epidermal growth factor receptor	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:10511	D	RGD:9068941	20200917	RGD		associated with  Helicobacter Infections	PMID:28473630|REF_RGD_ID:38599214
8795990	Egfr	epidermal growth factor receptor	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:10511	D	RGD:9068941	20200609	RGD			PMID:23019586|REF_RGD_ID:10059684
8795990	Egfr	epidermal growth factor receptor	gene	DOID:10763	hypertension		ISO	RGD:2543	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:renal cortex	PMID:15827348|REF_RGD_ID:1580953
8795990	Egfr	epidermal growth factor receptor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:69152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8795990	Egfr	epidermal growth factor receptor	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:69152	D	RGD:9068941	20200609	RGD			PMID:16685269|REF_RGD_ID:2298502
8795990	Egfr	epidermal growth factor receptor	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:69152	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder	PMID:18006009|REF_RGD_ID:2289943
8795990	Egfr	epidermal growth factor receptor	gene	DOID:11166	Human papillomavirus infectious disease	disease_progression	ISO	RGD:69152	D	RGD:9068941	20200911	RGD		associated with squamous cell carcinoma	PMID:31430224|REF_RGD_ID:38599177
8795990	Egfr	epidermal growth factor receptor	gene	DOID:127	leiomyoma		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31468104
8795990	Egfr	epidermal growth factor receptor	gene	DOID:12858	Huntington's disease		ISO	RGD:10511	D	RGD:9068941	20200609	RGD			PMID:12890790|REF_RGD_ID:10047165
8795990	Egfr	epidermal growth factor receptor	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:2543	D	RGD:9068941	20200609	RGD			PMID:22646904|REF_RGD_ID:7204501
8795990	Egfr	epidermal growth factor receptor	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18599591
8795990	Egfr	epidermal growth factor receptor	gene	DOID:1307	dementia		ISO	RGD:69152	D	RGD:9068941	20200609	RGD			PMID:2354367|REF_RGD_ID:10059682
8795990	Egfr	epidermal growth factor receptor	gene	DOID:1324	lung cancer		ISO	RGD:69152	D	RGD:7240710	20260729	OMIM			
8795990	Egfr	epidermal growth factor receptor	gene	DOID:1324	lung cancer		ISO	RGD:69152	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: EGFR-related condition | ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15604253|PMID:15623594|PMID:15625347|PMID:15710947|PMID:15728811|PMID:15737014|PMID:15741570|PMID:15746034|PMID:15897572|PMID:15901872|PMID:15998907|PMID:16011858|PMID:16105816|PMID:16115929|PMID:16166444|PMID:16187797|PMID:16199108|PMID:16199547|PMID:16203769|PMID:16204011|PMID:16204070|PMID:16258541|PMID:16467080|PMID:16467085|PMID:16533793|PMID:16857818|PMID:16865253|PMID:16912157|PMID:16956694|PMID:17020982|PMID:17047654|PMID:17085664|PMID:17106442|PMID:17177598|PMID:17192902|PMID:17285735|PMID:17317677|PMID:17332364|PMID:17387341|PMID:17429313|PMID:17473653|PMID:17473659|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:17904685|PMID:18093943|PMID:18176089|PMID:18193092|PMID:18227510|PMID:18303429|PMID:18325048|PMID:18334834|PMID:18355544|PMID:18379371|PMID:18495026|PMID:18497962|PMID:18528899|PMID:18550579|PMID:18596266|PMID:18948947|PMID:18981003|PMID:18992959|PMID:19059670|PMID:19060236|PMID:19096301|PMID:19096302|PMID:19096324|PMID:19147750|PMID:19381876|PMID:19455431|PMID:19536777|PMID:19589612|PMID:19671738|PMID:19692680|PMID:19692684|PMID:19844187|PMID:19922469|PMID:20022809|PMID:20033049|PMID:20038723|PMID:20068085|PMID:20129249|PMID:20479403|PMID:20559149|PMID:20573926|PMID:20808254|PMID:20823418|PMID:20942962|PMID:21057810|PMID:21172876|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21274259|PMID:21317742|PMID:21430269|PMID:21527506|PMID:21531810|PMID:21592614|PMID:21670455|PMID:21783417|PMID:21841502|PMID:21899495|PMID:21900837|PMID:21921847|PMID:22019513|PMID:22215752|PMID:22270724|PMID:22285168|PMID:22370314|PMID:22452895|PMID:22452896|PMID:22588155|PMID:22753918|PMID:22760226|PMID:22809298|PMID:22848293|PMID:22980975|PMID:22992668|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23371856|PMID:23380224|PMID:23468066|PMID:23468851|PMID:23540867|PMID:23800712|PMID:23816960|PMID:23816963|PMID:23908693|PMID:23912954|PMID:23948351|PMID:24033266|PMID:24039832|PMID:24065731|PMID:24202392|PMID:24212795|PMID:24326041|PMID:24406864|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24691054|PMID:24712396|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24743239|PMID:24788590|PMID:24893891|PMID:24894453|PMID:25057940|PMID:25061320|PMID:25111073|PMID:25130612|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25498243|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25939061|PMID:25948633|PMID:25969368|PMID:26066407|PMID:26070531|PMID:26101090|PMID:26280531|PMID:26436111|PMID:26467025|PMID:26490356|PMID:26515464|PMID:26619011|PMID:26700910|PMID:26720284|PMID:26773740|PMID:26870997|PMID:26901136|PMID:26987750|PMID:27294619|PMID:27993330|PMID:28135048|PMID:28229982|PMID:28286242|PMID:28492532|PMID:28676220|PMID:28726809|PMID:28835699|PMID:28838405|PMID:28874603|PMID:28947568|PMID:28979142|PMID:29100434|PMID:29228562|PMID:29290256|PMID:29576263|PMID:29587953|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30405134|PMID:30429037|PMID:30588029|PMID:30610926|PMID:30796031|PMID:30981987|PMID:31175009|PMID:31175917|PMID:31290142|PMID:31314158|PMID:31721094|PMID:32171629|PMID:32190291|PMID:32191290|PMID:32512509|PMID:32602142|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:33858029|PMID:33874989|PMID:33898318|PMID:34012789|PMID:34308104|PMID:34555730|PMID:34869019|PMID:35264596|PMID:36315513|PMID:36451132|PMID:36698436|PMID:7630400|PMID:9536098
8795990	Egfr	epidermal growth factor receptor	gene	DOID:1324	lung cancer		ISO	RGD:69152	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic | ClinVar Annotator: match by term: EGFR-related condition | ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic | ClinVar Annotator: match by term: MAP3K8-related condition	PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15604253|PMID:15623594|PMID:15625347|PMID:15728811|PMID:15737014|PMID:15741570|PMID:15746034|PMID:15897572|PMID:15901872|PMID:15998907|PMID:16105816|PMID:16115929|PMID:16166444|PMID:16199108|PMID:16199547|PMID:16203769|PMID:16204011|PMID:16258541|PMID:16467080|PMID:16467085|PMID:16533793|PMID:16857818|PMID:16865253|PMID:16912157|PMID:16956694|PMID:17020982|PMID:17047654|PMID:17085664|PMID:17106442|PMID:17177598|PMID:17192902|PMID:17285735|PMID:17317677|PMID:17387341|PMID:17429313|PMID:17473653|PMID:17473659|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:17904685|PMID:18093943|PMID:18176089|PMID:18193092|PMID:18227510|PMID:18325048|PMID:18334834|PMID:18355544|PMID:18379371|PMID:18495026|PMID:18497962|PMID:18528899|PMID:18550579|PMID:18596266|PMID:18948947|PMID:18981003|PMID:18992959|PMID:19059670|PMID:19060236|PMID:19096301|PMID:19096324|PMID:19147750|PMID:19381876|PMID:19536777|PMID:19589612|PMID:19671738|PMID:19692680|PMID:19844187|PMID:20022809|PMID:20033049|PMID:20038723|PMID:20068085|PMID:20129249|PMID:20479403|PMID:20559149|PMID:20573926|PMID:20808254|PMID:20823418|PMID:20942962|PMID:21057810|PMID:21172876|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21317742|PMID:21430269|PMID:21527506|PMID:21531810|PMID:21592614|PMID:21841502|PMID:21899495|PMID:21900837|PMID:21921847|PMID:22019513|PMID:22215752|PMID:22370314|PMID:22588155|PMID:22760226|PMID:22809298|PMID:22848293|PMID:22980975|PMID:22992668|PMID:23242437|PMID:23358982|PMID:23371856|PMID:23380224|PMID:23468066|PMID:23468851|PMID:23540867|PMID:23908693|PMID:23912954|PMID:24033266|PMID:24039832|PMID:24202392|PMID:24212795|PMID:24326041|PMID:24406864|PMID:24453288|PMID:24478319|PMID:24691054|PMID:24712396|PMID:24728327|PMID:24736066|PMID:24736080|PMID:24743239|PMID:24788590|PMID:24894453|PMID:25057940|PMID:25061320|PMID:25111073|PMID:25130612|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25498243|PMID:25640679|PMID:25741868|PMID:25939061|PMID:25948633|PMID:25969368|PMID:26066407|PMID:26070531|PMID:26101090|PMID:26280531|PMID:26436111|PMID:26467025|PMID:26490356|PMID:26700910|PMID:26773740|PMID:26870997|PMID:26901136|PMID:26987750|PMID:27294619|PMID:27993330|PMID:28135048|PMID:28229982|PMID:28286242|PMID:28492532|PMID:28676220|PMID:28726809|PMID:28835699|PMID:28838405|PMID:28874603|PMID:28947568|PMID:28979142|PMID:29100434|PMID:29228562|PMID:29290256|PMID:29576263|PMID:29587953|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30405134|PMID:30429037|PMID:30588029|PMID:30610926|PMID:30796031|PMID:30981987|PMID:31175009|PMID:31175917|PMID:31290142|PMID:31314158|PMID:31721094|PMID:32171629|PMID:32190291|PMID:32191290|PMID:32250467|PMID:32512509|PMID:32602142|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:33835358|PMID:33858029|PMID:33874989|PMID:33898318|PMID:34012789|PMID:34308104|PMID:34555730|PMID:34869019|PMID:35264596|PMID:35980532|PMID:36017778|PMID:36315513|PMID:36451132|PMID:36698436|PMID:37769218|PMID:38729783|PMID:38868164|PMID:38874686|PMID:7630400|PMID:9536098
8795990	Egfr	epidermal growth factor receptor	gene	DOID:1324	lung cancer		ISO	RGD:69152	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic | ClinVar Annotator: match by term: EGFR-related condition | ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: LUNG CANCER, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15604253|PMID:15623594|PMID:15625347|PMID:15728811|PMID:15737014|PMID:15741570|PMID:15746034|PMID:15897572|PMID:15901872|PMID:15998907|PMID:16105816|PMID:16115929|PMID:16166444|PMID:16199108|PMID:16199547|PMID:16203769|PMID:16204011|PMID:16258541|PMID:16467080|PMID:16467085|PMID:16533793|PMID:16857818|PMID:16865253|PMID:16912157|PMID:16956694|PMID:17020982|PMID:17047654|PMID:17085664|PMID:17106442|PMID:17177598|PMID:17192902|PMID:17285735|PMID:17317677|PMID:17387341|PMID:17429313|PMID:17473653|PMID:17473659|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:17904685|PMID:18093943|PMID:18176089|PMID:18193092|PMID:18227510|PMID:18325048|PMID:18334834|PMID:18355544|PMID:18379371|PMID:18495026|PMID:18497962|PMID:18528899|PMID:18550579|PMID:18596266|PMID:18948947|PMID:18981003|PMID:18992959|PMID:19059670|PMID:19060236|PMID:19096301|PMID:19096324|PMID:19147750|PMID:19381876|PMID:19536777|PMID:19589612|PMID:19671738|PMID:19692680|PMID:19844187|PMID:20022809|PMID:20033049|PMID:20038723|PMID:20068085|PMID:20129249|PMID:20479403|PMID:20559149|PMID:20573926|PMID:20808254|PMID:20823418|PMID:20942962|PMID:21057810|PMID:21172876|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21317742|PMID:21430269|PMID:21527506|PMID:21531810|PMID:21592614|PMID:21841502|PMID:21899495|PMID:21900837|PMID:21921847|PMID:22019513|PMID:22215752|PMID:22370314|PMID:22588155|PMID:22760226|PMID:22809298|PMID:22848293|PMID:22980975|PMID:22992668|PMID:23242437|PMID:23358982|PMID:23371856|PMID:23380224|PMID:23468066|PMID:23468851|PMID:23540867|PMID:23908693|PMID:23912954|PMID:24033266|PMID:24039832|PMID:24202392|PMID:24212795|PMID:24326041|PMID:24406864|PMID:24453288|PMID:24478319|PMID:24691054|PMID:24728327|PMID:24736066|PMID:24736080|PMID:24743239|PMID:24788590|PMID:24894453|PMID:25057940|PMID:25061320|PMID:25111073|PMID:25130612|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25498243|PMID:25640679|PMID:25741868|PMID:25939061|PMID:25948633|PMID:25969368|PMID:26066407|PMID:26070531|PMID:26101090|PMID:26280531|PMID:26436111|PMID:26467025|PMID:26490356|PMID:26580448|PMID:26700910|PMID:26773740|PMID:26870997|PMID:26901136|PMID:26987750|PMID:27294619|PMID:27993330|PMID:28135048|PMID:28229982|PMID:28286242|PMID:28492532|PMID:28676220|PMID:28726809|PMID:28835699|PMID:28838405|PMID:28874603|PMID:28947568|PMID:28979142|PMID:29100434|PMID:29228562|PMID:29290256|PMID:29576263|PMID:29587953|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30405134|PMID:30429037|PMID:30588029|PMID:30610926|PMID:30796031|PMID:30981987|PMID:31175009|PMID:31175917|PMID:31290142|PMID:31314158|PMID:31721094|PMID:32171629|PMID:32190291|PMID:32191290|PMID:32250467|PMID:32512509|PMID:32602142|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:33835358|PMID:33858029|PMID:33874989|PMID:33898318|PMID:34012789|PMID:34308104|PMID:34555730|PMID:34754157|PMID:34869019|PMID:35264596|PMID:35980532|PMID:36017778|PMID:36315513|PMID:36451132|PMID:36698436|PMID:37769218|PMID:38729783|PMID:38868164|PMID:38874686|PMID:7630400|PMID:9536098
8795990	Egfr	epidermal growth factor receptor	gene	DOID:1324	lung cancer		ISO	RGD:69152	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic | ClinVar Annotator: match by term: EGFR-related condition | ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	PMID:1111234672|PMID:15118073|PMID:15118125|PMID:15329413|PMID:15604253|PMID:15625347|PMID:15741570|PMID:15897572|PMID:15901872|PMID:15998907|PMID:16105816|PMID:16115929|PMID:16166444|PMID:16199108|PMID:16199547|PMID:16203769|PMID:16204011|PMID:16467085|PMID:16533793|PMID:16857818|PMID:16865253|PMID:16956694|PMID:17047654|PMID:17106442|PMID:17177598|PMID:17192902|PMID:17285735|PMID:17317677|PMID:17387341|PMID:17429313|PMID:17473653|PMID:17473659|PMID:17576681|PMID:17877814|PMID:17904685|PMID:18176089|PMID:18325048|PMID:18334834|PMID:18355544|PMID:18550579|PMID:18948947|PMID:19536777|PMID:19671738|PMID:19692680|PMID:19844187|PMID:20022809|PMID:20038723|PMID:20479403|PMID:20559149|PMID:20573926|PMID:20808254|PMID:20823418|PMID:20942962|PMID:21057810|PMID:21172876|PMID:21317742|PMID:21527506|PMID:21531810|PMID:21592614|PMID:21841502|PMID:21899495|PMID:21900837|PMID:22019513|PMID:22215752|PMID:22370314|PMID:22760226|PMID:22809298|PMID:22848293|PMID:22992668|PMID:23380224|PMID:23468066|PMID:24033266|PMID:24039832|PMID:24212795|PMID:24326041|PMID:24691054|PMID:24728327|PMID:24743239|PMID:24894453|PMID:25057940|PMID:25061320|PMID:25111073|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25640679|PMID:25741868|PMID:26066407|PMID:26070531|PMID:26280531|PMID:26436111|PMID:26467025|PMID:26490356|PMID:26580448|PMID:26773740|PMID:26870997|PMID:26901136|PMID:26987750|PMID:27294619|PMID:27993330|PMID:28135048|PMID:28229982|PMID:28286242|PMID:28492532|PMID:28676220|PMID:28726809|PMID:28835699|PMID:28838405|PMID:28979142|PMID:29100434|PMID:29228562|PMID:29290256|PMID:29625052|PMID:29899996|PMID:30098700|PMID:30325992|PMID:30405134|PMID:30429037|PMID:30588029|PMID:30610926|PMID:30796031|PMID:31175009|PMID:31290142|PMID:31314158|PMID:31721094|PMID:32171629|PMID:32190291|PMID:32191290|PMID:32250467|PMID:32512509|PMID:32602142|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33835358|PMID:33874989|PMID:33898318|PMID:34012789|PMID:34308104|PMID:34754157|PMID:34869019|PMID:35264596|PMID:35980532|PMID:36017778|PMID:36315513|PMID:36451132|PMID:37769218|PMID:38874686|PMID:7630400|PMID:9536098
8795990	Egfr	epidermal growth factor receptor	gene	DOID:1324	lung cancer		ISO	RGD:69152	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EGFR-related condition | ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung Cancer | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	PMID:15118073|PMID:15118125|PMID:15623594|PMID:15788655|PMID:16199547|PMID:16373402|PMID:16912195|PMID:17177598|PMID:17236554|PMID:17576681|PMID:18355544|PMID:19671738|PMID:20823418|PMID:21172876|PMID:21531810|PMID:21573507|PMID:21841502|PMID:23026641|PMID:23380224|PMID:23578570|PMID:23912954|PMID:24033266|PMID:24691054|PMID:24705251|PMID:24743239|PMID:25057940|PMID:25111073|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25640679|PMID:25741868|PMID:26066407|PMID:26070531|PMID:26244656|PMID:26280531|PMID:26436111|PMID:26467025|PMID:26580448|PMID:26619011|PMID:26773740|PMID:26901136|PMID:26987750|PMID:27294619|PMID:27556186|PMID:27993330|PMID:28135048|PMID:28229982|PMID:28492532|PMID:28676220|PMID:28726809|PMID:28835699|PMID:28912153|PMID:28966033|PMID:28979142|PMID:29228562|PMID:29247016|PMID:29290256|PMID:29533785|PMID:29625052|PMID:29763623|PMID:29899996|PMID:30325992|PMID:30429037|PMID:30610926|PMID:31175009|PMID:31290142|PMID:31314158|PMID:32190291|PMID:32191290|PMID:32303840|PMID:32512509|PMID:32602142|PMID:32914005|PMID:33130881|PMID:33326033|PMID:33835358|PMID:33874989|PMID:33898318|PMID:34012789|PMID:34308104|PMID:34754157|PMID:34869019|PMID:35101336|PMID:35140400|PMID:35332262|PMID:35982160|PMID:36315513|PMID:36451132|PMID:37209596|PMID:7630400|PMID:9536098
8795990	Egfr	epidermal growth factor receptor	gene	DOID:13976	peptic esophagitis		ISO	RGD:2543	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:esophagus, basal cell	PMID:11966524|REF_RGD_ID:10395244
8795990	Egfr	epidermal growth factor receptor	gene	DOID:14330	Parkinson's disease		ISO	RGD:69152	D	RGD:9068941	20200609	RGD		protein:decreased expression:forebrain	PMID:15857400|REF_RGD_ID:2289955
8795990	Egfr	epidermal growth factor receptor	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:69152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:15118073|PMID:15118125|PMID:15681531|PMID:16373402|PMID:16533793|PMID:16912195|PMID:16931592|PMID:17177598|PMID:18509184|PMID:22588883|PMID:24033266|PMID:24705251|PMID:24743239|PMID:24747966|PMID:25219808|PMID:26066407|PMID:26619011|PMID:27478040|PMID:27993330|PMID:28401334|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29141884|PMID:29228562|PMID:29247016|PMID:29533785|PMID:29763623|PMID:29990498|PMID:30952700|PMID:31290142|PMID:32303840|PMID:33130881|PMID:35101336|PMID:35140400|PMID:35304574|PMID:35332262|PMID:36044040|PMID:37842288|PMID:40063504|PMID:5981777
8795990	Egfr	epidermal growth factor receptor	gene	DOID:1612	breast cancer		ISO	RGD:69152	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:17465220|REF_RGD_ID:2289949
8795990	Egfr	epidermal growth factor receptor	gene	DOID:1712	aortic valve stenosis		ISO	RGD:10511	D	RGD:9068941	20200609	RGD			PMID:10700187|REF_RGD_ID:734918
8795990	Egfr	epidermal growth factor receptor	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:69152	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
8795990	Egfr	epidermal growth factor receptor	gene	DOID:1790	malignant mesothelioma		ISO	RGD:69152	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:27032653
8795990	Egfr	epidermal growth factor receptor	gene	DOID:1793	pancreatic cancer		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27720938
8795990	Egfr	epidermal growth factor receptor	gene	DOID:1793	pancreatic cancer		ISO	RGD:69152	D	RGD:9068941	20200609	RGD			PMID:17452677|REF_RGD_ID:5131631
8795990	Egfr	epidermal growth factor receptor	gene	DOID:1984	rectal benign neoplasm		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16839708
8795990	Egfr	epidermal growth factor receptor	gene	DOID:2394	ovarian cancer		ISO	RGD:69152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer | ClinVar Annotator: match by term: ovarian cancer	PMID:25741868|PMID:28492532
8795990	Egfr	epidermal growth factor receptor	gene	DOID:2615	papilloma		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8603490
8795990	Egfr	epidermal growth factor receptor	gene	DOID:2615	papilloma	susceptibility	ISO	RGD:10511	D	RGD:9068941	20200609	RGD			PMID:10943841|REF_RGD_ID:734919
8795990	Egfr	epidermal growth factor receptor	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:69152	D	RGD:9068941	20200609	RGD			PMID:3499520|REF_RGD_ID:10395259
8795990	Egfr	epidermal growth factor receptor	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:69152	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:urinary bladder	PMID:16469638|REF_RGD_ID:2289980
8795990	Egfr	epidermal growth factor receptor	gene	DOID:2723	dermatitis		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27206134
8795990	Egfr	epidermal growth factor receptor	gene	DOID:2841	asthma		ISO	RGD:10511	D	RGD:9068941	20260604	RGD			PMID:21224214|REF_RGD_ID:5131633
8795990	Egfr	epidermal growth factor receptor	gene	DOID:2841	asthma		ISO	RGD:10511	D	RGD:9068941	20260604	RGD		protein:increased expression:lung epithelium (mouse)	PMID:21072743|REF_RGD_ID:5131642
8795990	Egfr	epidermal growth factor receptor	gene	DOID:2841	asthma		ISO	RGD:2543	D	RGD:9068941	20260604	RGD		protein:increased expression:lung epithelium (rat)	PMID:19954006|REF_RGD_ID:5131870
8795990	Egfr	epidermal growth factor receptor	gene	DOID:2841	asthma	severity	ISO	RGD:69152	D	RGD:9068941	20200609	RGD		protein:increased expression:bronchial epithelium (human)	PMID:12580917|REF_RGD_ID:5131468
8795990	Egfr	epidermal growth factor receptor	gene	DOID:2871	endometrial carcinoma		ISO	RGD:69152	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:28492532
8795990	Egfr	epidermal growth factor receptor	gene	DOID:2876	laryngeal squamous cell carcinoma	disease_progression	ISO	RGD:69152	D	RGD:9068941	20210423	RGD			PMID:22549618|REF_RGD_ID:126790474
8795990	Egfr	epidermal growth factor receptor	gene	DOID:289	endometriosis		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
8795990	Egfr	epidermal growth factor receptor	gene	DOID:2945	severe acute respiratory syndrome	severity	ISO	RGD:10511	D	RGD:9068941	20200911	RGD			PMID:28404843|REF_RGD_ID:38599178
8795990	Egfr	epidermal growth factor receptor	gene	DOID:2957	pulmonary tuberculosis	disease_progression	ISO	RGD:69152	D	RGD:9068941	20200911	RGD		associated with lung adenocarcinoma;	PMID:22173705|PMID:29621876|REF_RGD_ID:38599162|REF_RGD_ID:38599176
8795990	Egfr	epidermal growth factor receptor	gene	DOID:299	adenocarcinoma		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20934974|PMID:21541241|PMID:22042947|PMID:2523869|PMID:27720938
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3021	acute kidney failure		ISO	RGD:2543	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:11340354|REF_RGD_ID:10395241
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3021	acute kidney failure		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:14638913
8795990	Egfr	epidermal growth factor receptor	gene	DOID:305	carcinoma		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15302576
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3068	glioblastoma		ISO	RGD:69152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioblastoma multiforme, somatic	
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3070	high grade glioma		ISO	RGD:69152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:28492532
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3070	high grade glioma	treatment	ISO	RGD:2543	D	RGD:9068941	20200917	RGD			PMID:10616092|REF_RGD_ID:38599219
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:2543	D	RGD:9068941	20200609	RGD			PMID:22732689|REF_RGD_ID:7204496
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:69152	D	RGD:9068941	20200609	RGD		protein:increased expression:bronchial epithelium (human)	PMID:16393673|REF_RGD_ID:5131627
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3275	thymoma		ISO	RGD:69152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3347	osteosarcoma		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22235915
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3459	breast carcinoma		ISO	RGD:69152	D	RGD:9068941	20200609	RGD		DNA:amplification:cds, 3' utr (human)	PMID:18413808|REF_RGD_ID:2293732
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:69152	D	RGD:9068941	20200609	RGD			PMID:18522728|REF_RGD_ID:2293728
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:69152	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:21947696
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3748	esophagus squamous cell carcinoma	severity	ISO	RGD:69152	D	RGD:9068941	20200609	RGD		protein:increased expression:esophagus (human)	PMID:10385363|REF_RGD_ID:5131486
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:10511	D	RGD:9068941	20200609	RGD			PMID:21177177|PMID:8879184|REF_RGD_ID:5131634|REF_RGD_ID:5131638
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:2543	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (rat)	PMID:7524566|REF_RGD_ID:5131873
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3905	lung carcinoma		ISO	RGD:69152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung carcinoma	PMID:25741868|PMID:28492532|PMID:35264596|PMID:35980532
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:69152	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung Non-small Cell Carcinoma | ClinVar Annotator: match by term: NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN, SOMATIC | ClinVar Annotator: match by term: Non-Small Cell Lung Cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma	PMID:15118073|PMID:15118125|PMID:15710947|PMID:15738541|PMID:15897572|PMID:16115929|PMID:16187797|PMID:16203769|PMID:16204011|PMID:16865253|PMID:16956694|PMID:17047654|PMID:17106442|PMID:17192902|PMID:17285735|PMID:17317677|PMID:17387341|PMID:17429313|PMID:17473659|PMID:17877814|PMID:18408761|PMID:18450321|PMID:19147750|PMID:19536777|PMID:19692680|PMID:20022809|PMID:20038723|PMID:20479403|PMID:20573926|PMID:21132006|PMID:21531810|PMID:21841502|PMID:21900837|PMID:22215752|PMID:22285168|PMID:22370314|PMID:22452895|PMID:22760226|PMID:22992668|PMID:23816960|PMID:23982599|PMID:24033266|PMID:24439929|PMID:24736073|PMID:24868098|PMID:26206867|PMID:26490356|PMID:26515464|PMID:27032107|PMID:27102076|PMID:27993330|PMID:28979142|PMID:29533785|PMID:30952700|PMID:31396478|PMID:35101336
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:69152	D	RGD:9068941	20220901	RGD		human cells in mouse model	PMID:31205511|PMID:32276600|REF_RGD_ID:151357000|REF_RGD_ID:153344584
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:69152	D	RGD:9068941	20210423	RGD			PMID:11789762|REF_RGD_ID:126790479
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:69152	D	RGD:9068941	20200609	RGD		protein:decreased expression:tumor (human)	PMID:21124077|REF_RGD_ID:5131640
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:69152	D	RGD:9068941	20200609	RGD			PMID:27040853|REF_RGD_ID:13464349
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:69152	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Adenocarcinoma of lung, somatic | ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:15118073|PMID:15118125|PMID:15329413|PMID:15604253|PMID:15623594|PMID:15625347|PMID:15625379|PMID:15741570|PMID:15788655|PMID:15897572|PMID:15998907|PMID:16105816|PMID:16199108|PMID:16204070|PMID:16373402|PMID:16467085|PMID:16533793|PMID:16863509|PMID:16912195|PMID:17177598|PMID:17192902|PMID:17236554|PMID:17285735|PMID:17473653|PMID:17904685|PMID:17941001|PMID:18176089|PMID:18261621|PMID:18325048|PMID:18334834|PMID:18573086|PMID:18948947|PMID:19096301|PMID:19147750|PMID:19536777|PMID:20479403|PMID:20559149|PMID:20808254|PMID:21057810|PMID:21317742|PMID:21527506|PMID:21592614|PMID:21841502|PMID:21899495|PMID:22019513|PMID:22483783|PMID:22809298|PMID:23371856|PMID:23468066|PMID:24033266|PMID:24039832|PMID:24212795|PMID:24705251|PMID:24894453|PMID:25061320|PMID:25741868|PMID:26066407|PMID:26619011|PMID:27993330|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29100434|PMID:29141884|PMID:29228562|PMID:29247016|PMID:29533785|PMID:29763623|PMID:30610926|PMID:31314158|PMID:35101336|PMID:35332262
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:69152	D	RGD:9068941	20210423	RGD			PMID:26824984|REF_RGD_ID:126790475
8795990	Egfr	epidermal growth factor receptor	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23585556
8795990	Egfr	epidermal growth factor receptor	gene	DOID:4362	cervical cancer		ISO	RGD:69152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8795990	Egfr	epidermal growth factor receptor	gene	DOID:4450	renal cell carcinoma		ISO	RGD:69152	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor	PMID:18467719|REF_RGD_ID:2293730
8795990	Egfr	epidermal growth factor receptor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:69152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
8795990	Egfr	epidermal growth factor receptor	gene	DOID:4500	hypokalemia		ISO	RGD:69152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypokalemia	PMID:25741868|PMID:28492532
8795990	Egfr	epidermal growth factor receptor	gene	DOID:4926	bronchiolo-alveolar adenocarcinoma		ISO	RGD:10511	D	RGD:9068941	20200609	RGD		DNA:mutations:exons:	PMID:26059825|REF_RGD_ID:11075076
8795990	Egfr	epidermal growth factor receptor	gene	DOID:4926	bronchiolo-alveolar adenocarcinoma		ISO	RGD:2543	D	RGD:9068941	20200609	RGD		DNA:mutations:exons:	PMID:26059825|REF_RGD_ID:11075076
8795990	Egfr	epidermal growth factor receptor	gene	DOID:4926	bronchiolo-alveolar adenocarcinoma		ISO	RGD:69152	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.T790M (human)	PMID:15737014|REF_RGD_ID:5131465
8795990	Egfr	epidermal growth factor receptor	gene	DOID:4926	bronchiolo-alveolar adenocarcinoma		ISO	RGD:69152	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor (human)	PMID:21419590|REF_RGD_ID:5131630
8795990	Egfr	epidermal growth factor receptor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:69152	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: therapeutic	PMID:17341899
8795990	Egfr	epidermal growth factor receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:69152	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8795990	Egfr	epidermal growth factor receptor	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:69152	D	RGD:9068941	20200609	RGD		associated with non-alcoholic fatty liver disease;protein:increased expression:plasma	PMID:28650518|REF_RGD_ID:14401722
8795990	Egfr	epidermal growth factor receptor	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20837450
8795990	Egfr	epidermal growth factor receptor	gene	DOID:5419	schizophrenia		ISO	RGD:69152	D	RGD:9068941	20200609	RGD		protein:increased expression:prefrontal cortex (human)	PMID:12192610|REF_RGD_ID:5131451
8795990	Egfr	epidermal growth factor receptor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:69152	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:15118073|PMID:15118125|PMID:15788655|PMID:17177598|PMID:20415598|PMID:21531084|PMID:23242437|PMID:23358982|PMID:24712396|PMID:25157968|PMID:25382819|PMID:25969368|PMID:26101090|PMID:26619011|PMID:28492532|PMID:28874603|PMID:29945477|PMID:31775759|PMID:34555730
8795990	Egfr	epidermal growth factor receptor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:69152	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:15118073|PMID:15118125|PMID:15788655|PMID:17177598|PMID:17285735|PMID:19060236|PMID:19096301|PMID:20415598|PMID:21531084|PMID:22980975|PMID:23242437|PMID:23358982|PMID:23371856|PMID:24712396|PMID:24788590|PMID:25130612|PMID:25157968|PMID:25382819|PMID:25741868|PMID:25969368|PMID:26101090|PMID:26619011|PMID:28492532|PMID:28874603|PMID:29576263|PMID:29945477|PMID:31775759|PMID:33644199|PMID:33898318|PMID:34555730|PMID:36698436
8795990	Egfr	epidermal growth factor receptor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:69152	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:15118073|PMID:15118125|PMID:15788655
8795990	Egfr	epidermal growth factor receptor	gene	DOID:571	median neuropathy		ISO	RGD:2543	D	RGD:9068941	20210423	RGD			PMID:18845940|REF_RGD_ID:126790486
8795990	Egfr	epidermal growth factor receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8795990	Egfr	epidermal growth factor receptor	gene	DOID:62	aortic valve disease		ISO	RGD:10511	D	RGD:9068941	20220825	MouseDO			
8795990	Egfr	epidermal growth factor receptor	gene	DOID:6432	pulmonary hypertension		ISO	RGD:10511	D	RGD:9068941	20200609	RGD			PMID:12896876|REF_RGD_ID:5131639
8795990	Egfr	epidermal growth factor receptor	gene	DOID:6432	pulmonary hypertension		ISO	RGD:69152	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, arteriole (human)	PMID:21492463|REF_RGD_ID:5131626
8795990	Egfr	epidermal growth factor receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8795990	Egfr	epidermal growth factor receptor	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:69152	D	RGD:9068941	20210423	RGD			PMID:11355950|REF_RGD_ID:126781769
8795990	Egfr	epidermal growth factor receptor	gene	DOID:850	lung disease		ISO	RGD:2543	D	RGD:9068941	20200609	RGD		Acute Lung Injury; mRNA:increased expression:lung (rat)	PMID:9700116|REF_RGD_ID:1578630
8795990	Egfr	epidermal growth factor receptor	gene	DOID:8947	diabetic retinopathy		ISO	RGD:69152	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:7947554|REF_RGD_ID:1580957
8795990	Egfr	epidermal growth factor receptor	gene	DOID:8947	diabetic retinopathy	treatment	ISO	RGD:10511	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:23831329|REF_RGD_ID:10059675
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24997986
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2543	D	RGD:9068941	20200609	RGD			PMID:20869112|REF_RGD_ID:5131525
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2543	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:spinal cord, astrocyte (rat)	PMID:21402118|REF_RGD_ID:5131454
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9000081	Lymphatic Metastasis	treatment	ISO	RGD:10511	D	RGD:9068941	20200609	RGD		associated with Squamous Cell Carcinoma of the Tongue	PMID:19380367|REF_RGD_ID:8551769
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21298351|PMID:21468131|PMID:22042947
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:69152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9000184	Ventricular Fibrillation	treatment	ISO	RGD:2543	D	RGD:9068941	20200917	RGD			PMID:22028338|REF_RGD_ID:38676260
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15723263|PMID:21173787|PMID:22042947
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8603490
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9000918	Disease Progression		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20859196
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17369752|PMID:17575224|PMID:23867902
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:69152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9001341	Chloracne		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21237254
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9002221	Hyperplasia		ISO	RGD:2543	D	RGD:9068941	20200609	RGD		protein:increased expression:carotid artery (rat)	PMID:21357274|REF_RGD_ID:5131466
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:69152	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15302576|PMID:17136230|PMID:17914592
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:7589090
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16211241|PMID:21909139
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:69152	D	RGD:9068941	20200609	RGD		protein:decreased expression:ovary	PMID:18575766|REF_RGD_ID:2298499
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9002762	Ovarian Neoplasms	severity	ISO	RGD:69152	D	RGD:9068941	20200609	RGD		protein:increased expression:mammary tumor cell, nucleus (human)	PMID:19058255|REF_RGD_ID:5131867
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9002802	Acidoses		ISO	RGD:69152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acidosis	PMID:25741868|PMID:28492532
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9002850	Immediate Hypersensitivity		ISO	RGD:69152	D	RGD:9068941	20200609	RGD		DNA:snps:multiple (human)	PMID:20357714|REF_RGD_ID:5131868
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14569062|PMID:25200834
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9002936	Bile Duct Neoplasms		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17341899
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18703609|PMID:20859196|PMID:21329967
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9003373	Uterine Cervical Neoplasms	disease_progression	ISO	RGD:69152	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:17465227|REF_RGD_ID:2289947
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9003566	Mesothelioma		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21787763
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9003613	Laryngeal Neoplasms	severity	ISO	RGD:69152	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor (human)	PMID:8883413|REF_RGD_ID:5131485
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9003936	Cardiomegaly		ISO	RGD:10511	D	RGD:9068941	20200609	RGD			PMID:15652507|REF_RGD_ID:1580954
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9004240	Phyllodes Tumor	disease_progression	ISO	RGD:69152	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor	PMID:11206334|REF_RGD_ID:2289951
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9004265	Endometrioid Carcinomas		ISO	RGD:69152	D	RGD:9068941	20250109	RGD		mRNA:decreased expression:endometrium	PMID:16962163|REF_RGD_ID:2289950
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18844224|PMID:23867902
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:10511	D	RGD:9068941	20200609	RGD			PMID:20935109|REF_RGD_ID:5131862
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:2543	D	RGD:9068941	20200609	RGD			PMID:12624003|REF_RGD_ID:1580955
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9004771	Vascular Remodeling	treatment	ISO	RGD:2543	D	RGD:9068941	20200917	RGD			PMID:31264901|REF_RGD_ID:38599217
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21786012|PMID:22277784
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:69152	D	RGD:9068941	20240201	CTD		CTD Direct Evidence: marker/mechanism	PMID:18927287|PMID:19336973|PMID:20934974|PMID:21541241|PMID:23523951|PMID:27935865|PMID:29106415
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:69152	D	RGD:9068941	20240201	RGD		protein:increased expression:tumor (human)	PMID:11894009|REF_RGD_ID:5131628
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9005207	Nasopharyngeal Neoplasms		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21786012
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2523869|PMID:8603490
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:69152	D	RGD:9068941	20200609	RGD			PMID:17203220|REF_RGD_ID:2289979
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9005372	Inflammation		ISO	RGD:2543	D	RGD:9068941	20200609	RGD		associated with Spinal Cord Injuries	PMID:22824323|REF_RGD_ID:7204495
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2543	D	RGD:9068941	20200609	RGD		protein:decreased tyrosine phosphorylation:cornea	PMID:21330660|REF_RGD_ID:5131482
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9006102	Right Ventricular Hypertrophy	treatment	ISO	RGD:2543	D	RGD:9068941	20200917	RGD			PMID:31264901|REF_RGD_ID:38599217
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced	treatment	ISO	RGD:2543	D	RGD:9068941	20200917	RGD			PMID:31264901|REF_RGD_ID:38599217
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9006169	Head and Neck Neoplasms		ISO	RGD:69152	D	RGD:9068941	20220901	CTD		CTD Direct Evidence: marker/mechanism	PMID:12942316|PMID:15342401|PMID:23917044
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9006169	Head and Neck Neoplasms		ISO	RGD:69152	D	RGD:9068941	20220901	RGD			PMID:16467544|REF_RGD_ID:5131641
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69152	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15901872|PMID:16199547|PMID:16258541|PMID:16467080|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17285735|PMID:17332364|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18495026|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096324|PMID:19381876|PMID:19589612|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20942962|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21921847|PMID:22215752|PMID:22452896|PMID:22588155|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23540867|PMID:23816963|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24326041|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24893891|PMID:25111073|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:26515464|PMID:26700910|PMID:26720284|PMID:27294619|PMID:28166811|PMID:28492532|PMID:28726809|PMID:28835699|PMID:28947568|PMID:29290256|PMID:29625052|PMID:29899996|PMID:30098700|PMID:30325992|PMID:30610926|PMID:30981987|PMID:31314158|PMID:32171629|PMID:32512509|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33707471|PMID:7630400|PMID:9536098
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69152	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15901872|PMID:16199547|PMID:16258541|PMID:16467080|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17285735|PMID:17332364|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18495026|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096324|PMID:19381876|PMID:19589612|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20942962|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21921847|PMID:22215752|PMID:22452896|PMID:22588155|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23540867|PMID:23816963|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24326041|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24712396|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24893891|PMID:25111073|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25969368|PMID:26101090|PMID:26467025|PMID:26515464|PMID:26700910|PMID:26720284|PMID:26870997|PMID:27294619|PMID:28492532|PMID:28726809|PMID:28835699|PMID:28874603|PMID:28947568|PMID:29290256|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30610926|PMID:30981987|PMID:31314158|PMID:32171629|PMID:32512509|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:34555730|PMID:7630400|PMID:9536098
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69152	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15901872|PMID:16199547|PMID:16258541|PMID:16467080|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17285735|PMID:17332364|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18495026|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096324|PMID:19381876|PMID:19589612|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20942962|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21921847|PMID:22215752|PMID:22452896|PMID:22588155|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23540867|PMID:23816963|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24326041|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24712396|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24893891|PMID:25111073|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25969368|PMID:26101090|PMID:26467025|PMID:26515464|PMID:26700910|PMID:26720284|PMID:26870997|PMID:27294619|PMID:28492532|PMID:28726809|PMID:28835699|PMID:28874603|PMID:28947568|PMID:29290256|PMID:29576263|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30610926|PMID:30981987|PMID:31314158|PMID:32171629|PMID:32512509|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:33858029|PMID:33898318|PMID:34555730|PMID:36698436|PMID:7630400|PMID:9536098
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69152	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15901872|PMID:16199547|PMID:16258541|PMID:16467080|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17285735|PMID:17332364|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18495026|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096324|PMID:19381876|PMID:19589612|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20942962|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21921847|PMID:22215752|PMID:22452896|PMID:22588155|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23540867|PMID:23816963|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24326041|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24712396|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24893891|PMID:25111073|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25969368|PMID:26101090|PMID:26467025|PMID:26515464|PMID:26700910|PMID:26720284|PMID:26870997|PMID:27294619|PMID:28492532|PMID:28726809|PMID:28835699|PMID:28874603|PMID:28947568|PMID:29290256|PMID:29576263|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30610926|PMID:30981987|PMID:31314158|PMID:31721094|PMID:32171629|PMID:32191290|PMID:32512509|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:33858029|PMID:33898318|PMID:34308104|PMID:34555730|PMID:35264596|PMID:36698436|PMID:7630400|PMID:9536098
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69152	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15901872|PMID:16199547|PMID:16258541|PMID:16467080|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17285735|PMID:17332364|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18495026|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19060236|PMID:19096301|PMID:19096324|PMID:19381876|PMID:19589612|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20942962|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21921847|PMID:22215752|PMID:22452896|PMID:22588155|PMID:22848293|PMID:22980975|PMID:22992668|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23371856|PMID:23540867|PMID:23816963|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24326041|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24712396|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24788590|PMID:24893891|PMID:25111073|PMID:25130612|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25969368|PMID:26101090|PMID:26467025|PMID:26515464|PMID:26700910|PMID:26720284|PMID:26870997|PMID:27294619|PMID:28492532|PMID:28726809|PMID:28835699|PMID:28874603|PMID:28947568|PMID:29290256|PMID:29576263|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30610926|PMID:30981987|PMID:31314158|PMID:31721094|PMID:32171629|PMID:32191290|PMID:32512509|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:33858029|PMID:33898318|PMID:34308104|PMID:34555730|PMID:35264596|PMID:36698436|PMID:7630400|PMID:9536098
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69152	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1111234672|PMID:11423618|PMID:15272417|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15901872|PMID:16199547|PMID:16258541|PMID:16467080|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17285735|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18495026|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19060236|PMID:19096301|PMID:19096324|PMID:19381876|PMID:19589612|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20942962|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21921847|PMID:22215752|PMID:22588155|PMID:22848293|PMID:22980975|PMID:22992668|PMID:23242437|PMID:23358982|PMID:23371856|PMID:23540867|PMID:24033266|PMID:24202392|PMID:24326041|PMID:24453288|PMID:24478319|PMID:24712396|PMID:24728327|PMID:24736066|PMID:24736080|PMID:24788590|PMID:25111073|PMID:25130612|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25741868|PMID:25969368|PMID:26101090|PMID:26467025|PMID:26700910|PMID:26870997|PMID:27294619|PMID:28492532|PMID:28726809|PMID:28835699|PMID:28874603|PMID:28947568|PMID:29290256|PMID:29576263|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30610926|PMID:30981987|PMID:31314158|PMID:31721094|PMID:32171629|PMID:32191290|PMID:32512509|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:33858029|PMID:33898318|PMID:34308104|PMID:34555730|PMID:35264596|PMID:36698436|PMID:7630400|PMID:9536098
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69152	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1111234672|PMID:11423618|PMID:15272417|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15901872|PMID:16199547|PMID:16258541|PMID:16467080|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17285735|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18495026|PMID:18550579|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19060236|PMID:19096301|PMID:19096324|PMID:19381876|PMID:19589612|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20823418|PMID:20942962|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21841502|PMID:21921847|PMID:22215752|PMID:22588155|PMID:22848293|PMID:22980975|PMID:22992668|PMID:23242437|PMID:23358982|PMID:23371856|PMID:23540867|PMID:23908693|PMID:24033266|PMID:24202392|PMID:24326041|PMID:24453288|PMID:24478319|PMID:24712396|PMID:24728327|PMID:24736066|PMID:24736080|PMID:24788590|PMID:25111073|PMID:25130612|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25741868|PMID:25969368|PMID:26070531|PMID:26101090|PMID:26467025|PMID:26700910|PMID:26773740|PMID:26870997|PMID:26901136|PMID:26987750|PMID:27294619|PMID:28135048|PMID:28492532|PMID:28676220|PMID:28726809|PMID:28835699|PMID:28874603|PMID:28947568|PMID:28979142|PMID:29290256|PMID:29576263|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30429037|PMID:30610926|PMID:30981987|PMID:31175009|PMID:31314158|PMID:31721094|PMID:32171629|PMID:32190291|PMID:32191290|PMID:32512509|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:33858029|PMID:33898318|PMID:34308104|PMID:34555730|PMID:34869019|PMID:35264596|PMID:35980532|PMID:36315513|PMID:36451132|PMID:36698436|PMID:38729783|PMID:38868164|PMID:7630400|PMID:9536098
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69152	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15897572|PMID:15901872|PMID:16115929|PMID:16166444|PMID:16199547|PMID:16203769|PMID:16204011|PMID:16258541|PMID:16467080|PMID:16533793|PMID:16857818|PMID:16865253|PMID:16912157|PMID:16956694|PMID:17020982|PMID:17047654|PMID:17085664|PMID:17106442|PMID:17177598|PMID:17192902|PMID:17285735|PMID:17317677|PMID:17387341|PMID:17429313|PMID:17473659|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18193092|PMID:18227510|PMID:18379371|PMID:18495026|PMID:18528899|PMID:18550579|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19059670|PMID:19060236|PMID:19096301|PMID:19096324|PMID:19381876|PMID:19589612|PMID:19671738|PMID:19692680|PMID:19844187|PMID:20022809|PMID:20033049|PMID:20038723|PMID:20068085|PMID:20129249|PMID:20573926|PMID:20823418|PMID:20942962|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21841502|PMID:21900837|PMID:21921847|PMID:22215752|PMID:22370314|PMID:22588155|PMID:22760226|PMID:22848293|PMID:22980975|PMID:22992668|PMID:23242437|PMID:23358982|PMID:23371856|PMID:23468851|PMID:23540867|PMID:23908693|PMID:23912954|PMID:24033266|PMID:24202392|PMID:24212795|PMID:24326041|PMID:24406864|PMID:24453288|PMID:24478319|PMID:24712396|PMID:24728327|PMID:24736066|PMID:24736080|PMID:24743239|PMID:24788590|PMID:24894453|PMID:25111073|PMID:25130612|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25498243|PMID:25741868|PMID:25969368|PMID:26070531|PMID:26101090|PMID:26467025|PMID:26490356|PMID:26580448|PMID:26700910|PMID:26773740|PMID:26870997|PMID:26901136|PMID:26987750|PMID:27294619|PMID:27993330|PMID:28135048|PMID:28229982|PMID:28286242|PMID:28492532|PMID:28676220|PMID:28726809|PMID:28835699|PMID:28838405|PMID:28874603|PMID:28947568|PMID:28979142|PMID:29290256|PMID:29576263|PMID:29587953|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30405134|PMID:30429037|PMID:30588029|PMID:30610926|PMID:30796031|PMID:30981987|PMID:31175009|PMID:31175917|PMID:31290142|PMID:31314158|PMID:31721094|PMID:32171629|PMID:32190291|PMID:32191290|PMID:32512509|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:33858029|PMID:33898318|PMID:34308104|PMID:34555730|PMID:34754157|PMID:34869019|PMID:35264596|PMID:35980532|PMID:36315513|PMID:36451132|PMID:36698436|PMID:38729783|PMID:38868164|PMID:38874686|PMID:7630400|PMID:9536098
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69152	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1111234672|PMID:15118073|PMID:15118125|PMID:15329413|PMID:15897572|PMID:15901872|PMID:16115929|PMID:16166444|PMID:16199547|PMID:16203769|PMID:16204011|PMID:16533793|PMID:16857818|PMID:16865253|PMID:16956694|PMID:17047654|PMID:17106442|PMID:17177598|PMID:17192902|PMID:17285735|PMID:17317677|PMID:17387341|PMID:17429313|PMID:17473659|PMID:17576681|PMID:17877814|PMID:18550579|PMID:19671738|PMID:19692680|PMID:19844187|PMID:20022809|PMID:20038723|PMID:20573926|PMID:20823418|PMID:20942962|PMID:21531810|PMID:21841502|PMID:21900837|PMID:22215752|PMID:22370314|PMID:22760226|PMID:22848293|PMID:22992668|PMID:24033266|PMID:24212795|PMID:24326041|PMID:24728327|PMID:24743239|PMID:24894453|PMID:25111073|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25741868|PMID:26070531|PMID:26467025|PMID:26490356|PMID:26580448|PMID:26773740|PMID:26870997|PMID:26901136|PMID:26987750|PMID:27294619|PMID:27993330|PMID:28135048|PMID:28229982|PMID:28286242|PMID:28492532|PMID:28676220|PMID:28726809|PMID:28835699|PMID:28838405|PMID:28979142|PMID:29290256|PMID:29625052|PMID:29899996|PMID:30098700|PMID:30325992|PMID:30405134|PMID:30429037|PMID:30588029|PMID:30610926|PMID:30796031|PMID:31175009|PMID:31290142|PMID:31314158|PMID:31721094|PMID:32171629|PMID:32190291|PMID:32191290|PMID:32512509|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33898318|PMID:34308104|PMID:34754157|PMID:34869019|PMID:35264596|PMID:35980532|PMID:36315513|PMID:36451132|PMID:38874686|PMID:7630400|PMID:9536098
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69152	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:20823418|PMID:21531810|PMID:21573507|PMID:21841502|PMID:24033266|PMID:25741868|PMID:26070531|PMID:26467025|PMID:26773740|PMID:28492532|PMID:28676220|PMID:30429037|PMID:30610926|PMID:31175009|PMID:32190291|PMID:35264596|PMID:35982160|PMID:9536098
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9007692	Insulin Resistance		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22238402
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9008114	Helicobacter Infections	treatment	ISO	RGD:10511	D	RGD:9068941	20200917	RGD			PMID:28473630|REF_RGD_ID:38599214
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9008114	Helicobacter Infections	treatment	ISO	RGD:69152	D	RGD:9068941	20200911	RGD		associated with gastritis;	PMID:25051417|REF_RGD_ID:38599160
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:69152	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:17575224|PMID:18998757
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10319864
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16950593|PMID:18768436|PMID:19075277|PMID:20135347|PMID:20941507|PMID:23867902
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:10511	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung, tumor (mouse)	PMID:21107114|REF_RGD_ID:5037225
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9256	colorectal cancer		ISO	RGD:69152	D	RGD:9068941	20200609	RGD			PMID:15269313|REF_RGD_ID:5131632
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9256	colorectal cancer		ISO	RGD:69152	D	RGD:9068941	20200609	RGD		human tumor in mouse model	PMID:21398618|REF_RGD_ID:5131455
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9256	colorectal cancer	resistance	ISO	RGD:69152	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression (human)	PMID:20010090|REF_RGD_ID:5131871
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9351	diabetes mellitus		ISO	RGD:69152	D	RGD:9068941	20220527	RGD		associated with lung squamous cell carcinoma; protein:increased expression:lung (human)	PMID:27411924|REF_RGD_ID:152975631
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22238402
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:2543	D	RGD:9068941	20200609	RGD		protein:decreased phosphorylation:liver (rat)	PMID:2833110|REF_RGD_ID:5131531
8795990	Egfr	epidermal growth factor receptor	gene	DOID:9970	obesity		ISO	RGD:10511	D	RGD:9068941	20260604	RGD		protein:decreased phosphorylation:liver (mouse)	PMID:3624263|REF_RGD_ID:5131534
8796034	Shox	SHOX homeobox	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8796034	Shox	SHOX homeobox	gene	DOID:0060847	Leri-Weill dyschondrosteosis		ISO	RGD:1349053	D	RGD:7240710	20180130	OMIM			
8796034	Shox	SHOX homeobox	gene	DOID:0060847	Leri-Weill dyschondrosteosis		ISO	RGD:1349053	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LERI-WEILL DYSCHONDROSTEOSIS | ClinVar Annotator: match by term: Leri-Weill dyschondrosteosis | ClinVar Annotator: match by term: Léri-Weill dyschondrosteosis	PMID:11403039|PMID:11735031|PMID:11889214|PMID:12116253|PMID:15173321|PMID:15356038|PMID:15931687|PMID:23426818|PMID:23636926|PMID:25659810|PMID:25741868|PMID:26467025|PMID:26984564|PMID:27959697|PMID:28973083|PMID:30192042|PMID:34627339|PMID:36307859
8796034	Shox	SHOX homeobox	gene	DOID:0112120	SHOX-related short stature		ISO	RGD:1349053	D	RGD:7240710	20180130	OMIM			
8796034	Shox	SHOX homeobox	gene	DOID:0112120	SHOX-related short stature		ISO	RGD:1349053	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SHOX-related short stature | ClinVar Annotator: match by term: Short stature, idiopathic, X-linked	PMID:24051572|PMID:25741868|PMID:26467025
8796034	Shox	SHOX homeobox	gene	DOID:10534	stomach cancer		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:12362035|PMID:22020182|PMID:25741868|PMID:26467025
8796034	Shox	SHOX homeobox	gene	DOID:12849	autistic disorder		ISO	RGD:1349053	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 17	PMID:21681106|PMID:30208311
8796034	Shox	SHOX homeobox	gene	DOID:13620	patent foramen ovale		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:21681106
8796034	Shox	SHOX homeobox	gene	DOID:2355	anemia		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:21681106
8796034	Shox	SHOX homeobox	gene	DOID:5419	schizophrenia		ISO	RGD:1349053	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
8796034	Shox	SHOX homeobox	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:12362035|PMID:22020182|PMID:25741868|PMID:26467025
8796034	Shox	SHOX homeobox	gene	DOID:65	connective tissue disease		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25659810|PMID:25741868|PMID:26467025
8796034	Shox	SHOX homeobox	gene	DOID:9001031	Retrognathia		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:21681106
8796034	Shox	SHOX homeobox	gene	DOID:9004538	Hearing Loss		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:21681106
8796034	Shox	SHOX homeobox	gene	DOID:9005842	Langer Mesomelic Dysplasia		ISO	RGD:1349053	D	RGD:7240710	20180130	OMIM			
8796034	Shox	SHOX homeobox	gene	DOID:9005842	Langer Mesomelic Dysplasia		ISO	RGD:1349053	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LANGER MESOMELIC DYSPLASIA | ClinVar Annotator: match by term: Langer mesomelic dysplasia | ClinVar Annotator: match by term: Langer mesomelic dysplasia syndrome	PMID:11735031|PMID:11889214|PMID:15356038|PMID:23636926|PMID:25741868|PMID:26467025
8796034	Shox	SHOX homeobox	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8796034	Shox	SHOX homeobox	gene	DOID:9007661	Dwarfism		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short Stature | ClinVar Annotator: match by term: Short stature	PMID:11889216|PMID:12362035|PMID:12424438|PMID:21681106|PMID:25741868
8796034	Shox	SHOX homeobox	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21681106
8796034	Shox	SHOX homeobox	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8796034	Shox	SHOX homeobox	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8796034	Shox	SHOX homeobox	gene	DOID:9840	esotropia		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:21681106
8796043	Pex26	peroxisomal biogenesis factor 26	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
8796043	Pex26	peroxisomal biogenesis factor 26	gene	DOID:0050444	infantile Refsum disease		ISO	RGD:1350248	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)	PMID:12851857|PMID:16257970|PMID:19877282|PMID:21031596|PMID:25741868|PMID:28492532
8796043	Pex26	peroxisomal biogenesis factor 26	gene	DOID:0050453	lissencephaly		ISO	RGD:1350248	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lissencephaly	PMID:12851857|PMID:16257970|PMID:19877282|PMID:21031596|PMID:25741868|PMID:28492532
8796043	Pex26	peroxisomal biogenesis factor 26	gene	DOID:0080377	peroxisomal biogenesis disorder		ISO	RGD:1350248	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12851857
8796043	Pex26	peroxisomal biogenesis factor 26	gene	DOID:0080482	peroxisome biogenesis disorder 7A		ISO	RGD:1350248	D	RGD:7240710	20180130	OMIM			
8796043	Pex26	peroxisomal biogenesis factor 26	gene	DOID:0080482	peroxisome biogenesis disorder 7A		ISO	RGD:1350248	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger)	PMID:12851857|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16257970|PMID:17576681|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25640679|PMID:25741868|PMID:27392320|PMID:28492532|PMID:28823628|PMID:28944237|PMID:29947050|PMID:30446579|PMID:30979466|PMID:32140910|PMID:38323187|PMID:40273470|PMID:9536098
8796043	Pex26	peroxisomal biogenesis factor 26	gene	DOID:0080623	Heimler syndrome 1		ISO	RGD:1350248	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Heimler syndrome	PMID:28492532|PMID:33926089
8796043	Pex26	peroxisomal biogenesis factor 26	gene	DOID:0081436	Peroxisome biogenesis disorder 7B		ISO	RGD:1350248	D	RGD:7240710	20180130	OMIM			
8796043	Pex26	peroxisomal biogenesis factor 26	gene	DOID:0081436	Peroxisome biogenesis disorder 7B		ISO	RGD:1350248	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 7B | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7B	PMID:12851857|PMID:15542397|PMID:15858711|PMID:16257970|PMID:19877282|PMID:21031596|PMID:25016021|PMID:25741868|PMID:28492532|PMID:28944237|PMID:30446579|PMID:30979466|PMID:32140910|PMID:38323187|PMID:40273470
8796043	Pex26	peroxisomal biogenesis factor 26	gene	DOID:10588	adrenoleukodystrophy		ISO	RGD:1350248	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12851857
8796043	Pex26	peroxisomal biogenesis factor 26	gene	DOID:1115	sarcoma		ISO	RGD:1350248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8796043	Pex26	peroxisomal biogenesis factor 26	gene	DOID:11836	clubfoot		ISO	RGD:1350248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:12851857|PMID:16257970|PMID:19877282|PMID:21031596|PMID:25741868|PMID:28492532
8796043	Pex26	peroxisomal biogenesis factor 26	gene	DOID:12215	oligohydramnios		ISO	RGD:1350248	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:12851857|PMID:16257970|PMID:19877282|PMID:21031596|PMID:25741868|PMID:28492532
8796043	Pex26	peroxisomal biogenesis factor 26	gene	DOID:1826	epilepsy		ISO	RGD:1350248	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:12851857|PMID:16257970|PMID:19877282|PMID:21031596|PMID:25741868|PMID:28492532
8796043	Pex26	peroxisomal biogenesis factor 26	gene	DOID:5723	optic atrophy		ISO	RGD:1350248	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8796043	Pex26	peroxisomal biogenesis factor 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796043	Pex26	peroxisomal biogenesis factor 26	gene	DOID:630	genetic disease		ISO	RGD:1350248	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8796043	Pex26	peroxisomal biogenesis factor 26	gene	DOID:8501	fundus dystrophy		ISO	RGD:1350248	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
8796043	Pex26	peroxisomal biogenesis factor 26	gene	DOID:9003133	Hypertelorism		ISO	RGD:1350248	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:12851857|PMID:16257970|PMID:19877282|PMID:21031596|PMID:25741868|PMID:28492532
8796043	Pex26	peroxisomal biogenesis factor 26	gene	DOID:9005616	Micrognathism		ISO	RGD:1350248	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:12851857|PMID:16257970|PMID:19877282|PMID:21031596|PMID:25741868|PMID:28492532
8796043	Pex26	peroxisomal biogenesis factor 26	gene	DOID:905	Zellweger syndrome		ISO	RGD:1350248	D	RGD:9068941	20250703	CTD		CTD Direct Evidence: marker/mechanism	PMID:12851857|PMID:26319495
8796055	Tmem135	transmembrane protein 135	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796055	Tmem135	transmembrane protein 135	gene	DOID:10534	stomach cancer		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8796055	Tmem135	transmembrane protein 135	gene	DOID:1059	intellectual disability		ISO	RGD:1603382	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
8796055	Tmem135	transmembrane protein 135	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8796055	Tmem135	transmembrane protein 135	gene	DOID:1115	sarcoma		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8796055	Tmem135	transmembrane protein 135	gene	DOID:1324	lung cancer		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8796055	Tmem135	transmembrane protein 135	gene	DOID:1909	melanoma		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8796055	Tmem135	transmembrane protein 135	gene	DOID:3068	glioblastoma		ISO	RGD:1603382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
8796055	Tmem135	transmembrane protein 135	gene	DOID:3070	high grade glioma		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8796055	Tmem135	transmembrane protein 135	gene	DOID:3275	thymoma		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8796055	Tmem135	transmembrane protein 135	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1603382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
8796055	Tmem135	transmembrane protein 135	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8796055	Tmem135	transmembrane protein 135	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8796055	Tmem135	transmembrane protein 135	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796055	Tmem135	transmembrane protein 135	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8796055	Tmem135	transmembrane protein 135	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8796055	Tmem135	transmembrane protein 135	gene	DOID:9256	colorectal cancer		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:735777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:16713920|PMID:17347258|PMID:19589774
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy	PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:1868258|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25576396|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26252084|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28492532|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31069529|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy	PMID:32581296|PMID:32581362|PMID:9126059|PMID:9536098
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy	PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:1868258|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26252084|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28492532|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31069529|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy	PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:9126059|PMID:9536098
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:15805193|PMID:16199547|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25741868|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26236192|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26763045|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28525652|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29145747|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31487502|PMID:31730442|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:33391346|PMID:9126059|PMID:9536098
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy	PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11823106|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:15880351|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18251839|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18621678|PMID:18632234|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19220312|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301562|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21488303|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22028529|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22525008|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22944210|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23032131|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23485646|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25108116|PMID:25206388|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25569746|PMID:25576396|PMID:25590135|PMID:25640679|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25795284|PMID:25818041|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26716362|PMID:26763045|PMID:26845707|PMID:26863999|PMID:26934580|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27458797|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27734276|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28379373|PMID:28387369|PMID:28469861|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28518218|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28837158|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29095814|PMID:29100083|PMID:29141279
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy	PMID:29142202|PMID:29145747|PMID:29186148|PMID:29188601|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29573403|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30011152|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30795902|PMID:30805006|PMID:30868114|PMID:30945278|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31175295|PMID:31273778|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31618753|PMID:31677916|PMID:31720899|PMID:31730442|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:31880072|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32276107|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33391346|PMID:33674996|PMID:33895391|PMID:34015165|PMID:34055682|PMID:34338318|PMID:34379890|PMID:34489640|PMID:34539730|PMID:9126059|PMID:9536098|PMID:9573403
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy	PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11823106|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15133511|PMID:15263074|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:15880351|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16359470|PMID:16380441|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18251839|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18566737|PMID:18621678|PMID:18632234|PMID:18755274|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19220312|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19783390|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301562|PMID:20307669|PMID:20358599|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20619928|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21426328|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21775168|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22028529|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22525008|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22944210|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23032131|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23485646|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24412860|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24848745|PMID:24876116|PMID:25108116|PMID:25206388|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25356970|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25569746|PMID:25576396|PMID:25590135|PMID:25640679|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25795284|PMID:25818041|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26763045|PMID:26795593|PMID:26845707|PMID:26863999|PMID:26934580|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27155821|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27458797|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27582020|PMID:27652284|PMID:27734276|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28379373|PMID:28387369|PMID:28469861|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28518218
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy	PMID:28525652|PMID:28544625|PMID:28554332|PMID:28664031|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28837158|PMID:28842445|PMID:28864458|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29095814|PMID:29100083|PMID:29141279|PMID:29141311|PMID:29142202|PMID:29145747|PMID:29186148|PMID:29188601|PMID:29190809|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29455050|PMID:29460957|PMID:29573403|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:29930392|PMID:29933521|PMID:29948376|PMID:29981888|PMID:29986598|PMID:30011152|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30526861|PMID:30558019|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30660939|PMID:30795902|PMID:30805006|PMID:30868114|PMID:30921204|PMID:30945278|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31019026|PMID:31031587|PMID:31054490|PMID:31069529|PMID:31139143|PMID:31164858|PMID:31175295|PMID:31273778|PMID:31302675|PMID:31439038|PMID:31440721|PMID:31487502|PMID:31618474|PMID:31618753|PMID:31677916|PMID:31720899|PMID:31730442|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:31880072|PMID:32031527|PMID:32056211|PMID:32090326|PMID:32139178|PMID:32238909|PMID:32276107|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:32593896|PMID:32613771|PMID:32702657|PMID:32845893|PMID:33067208|PMID:33084218|PMID:33108073|PMID:33278787|PMID:33391346|PMID:33411788|PMID:33674996|PMID:33895391|PMID:34015165|PMID:34055682|PMID:34106054|PMID:34107977|PMID:34163418|PMID:34268891|PMID:34338318|PMID:34379890|PMID:34489640|PMID:34539730|PMID:34645491|PMID:34712263|PMID:34938262|PMID:35072530|PMID:35074891|PMID:35087721|PMID:35231114|PMID:35571373|PMID:35627257|PMID:35663268|PMID:36158059|PMID:36229510|PMID:36636894|PMID:36684540|PMID:9126059|PMID:9536098|PMID:9573403
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:18804930|PMID:25348405|PMID:28492532
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:735777	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21572417
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:735778	D	RGD:9068941	20220825	MouseDO			
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:735777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0060170	generalized epilepsy with febrile seizures plus		ISO	RGD:735777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus	PMID:27781031|PMID:27959697|PMID:28202706|PMID:28492532|PMID:32090326|PMID:32427350|PMID:35074891
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0060178	familial hemiplegic migraine		ISO	RGD:735777	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial hemiplegic migraine	PMID:18621678|PMID:19220312|PMID:28492532|PMID:31880072
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0060249	scoliosis		ISO	RGD:735777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:17347258|PMID:18930999|PMID:20110217|PMID:20522430|PMID:24502503|PMID:25206388|PMID:25741868|PMID:26096185|PMID:26501104|PMID:28492532|PMID:34145886|PMID:39181834
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:735777	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy	PMID:10486327|PMID:10742094|PMID:11118488|PMID:11940708|PMID:12083760|PMID:12086636|PMID:14702334|PMID:14738421|PMID:16458823|PMID:18930999|PMID:20100831|PMID:20522430|PMID:21844054|PMID:21864321|PMID:22151702|PMID:23195492|PMID:23808377|PMID:24277604|PMID:25378155|PMID:25741868|PMID:26096185|PMID:26467025|PMID:27267376|PMID:28084635|PMID:28150151|PMID:28492532|PMID:28842445|PMID:29655203|PMID:29760947|PMID:30525188|PMID:30659983|PMID:31782251
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:735777	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy	PMID:10486327|PMID:10742094|PMID:11118488|PMID:11940708|PMID:12083760|PMID:12086636|PMID:14702334|PMID:14738421|PMID:16458823|PMID:17347258|PMID:17903680|PMID:18930999|PMID:19585586|PMID:19586930|PMID:20522430|PMID:21248271|PMID:21844054|PMID:21864321|PMID:22151702|PMID:22156295|PMID:23195492|PMID:23527921|PMID:23808377|PMID:23917401|PMID:24277604|PMID:24328833|PMID:25378155|PMID:25741868|PMID:26096185|PMID:26188943|PMID:26467025|PMID:26680202|PMID:27267376|PMID:27465585|PMID:27781031|PMID:28084635|PMID:28150151|PMID:28492532|PMID:28735751|PMID:28842445|PMID:29760947|PMID:30525188|PMID:30659983|PMID:30868114|PMID:31782251|PMID:32238909
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:735777	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autosomal dominant epilepsy	PMID:10486327|PMID:10742094|PMID:11118488|PMID:11940708|PMID:12083760|PMID:12086636|PMID:14702334|PMID:14738421|PMID:16458823|PMID:16525050|PMID:17054684|PMID:17347258|PMID:17576681|PMID:17903680|PMID:18930999|PMID:19585586|PMID:19586930|PMID:20100831|PMID:20522430|PMID:21248271|PMID:21719429|PMID:21844054|PMID:21864321|PMID:22151702|PMID:22156295|PMID:23195492|PMID:23527921|PMID:23808377|PMID:23917401|PMID:24277604|PMID:24328833|PMID:25378155|PMID:25576396|PMID:25669891|PMID:25741868|PMID:26096185|PMID:26188943|PMID:26467025|PMID:26544041|PMID:26680202|PMID:27267376|PMID:27465585|PMID:27781031|PMID:28079314|PMID:28084635|PMID:28150151|PMID:28387369|PMID:28492532|PMID:28735751|PMID:28842445|PMID:29100083|PMID:29655203|PMID:29760947|PMID:30525188|PMID:30659983|PMID:30868114|PMID:31782251|PMID:32056211|PMID:32238909|PMID:9536098
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:735777	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy	PMID:10486327|PMID:10742094|PMID:11118488|PMID:11940708|PMID:12083760|PMID:12086636|PMID:14702334|PMID:14738421|PMID:16458823|PMID:16525050|PMID:17054684|PMID:17347258|PMID:17576681|PMID:17903680|PMID:18930999|PMID:19585586|PMID:19586930|PMID:20100831|PMID:20522430|PMID:21248271|PMID:21426328|PMID:21719429|PMID:21844054|PMID:21864321|PMID:22151702|PMID:22156295|PMID:23195492|PMID:23527921|PMID:23808377|PMID:23917401|PMID:24277604|PMID:24328833|PMID:25378155|PMID:25576396|PMID:25669891|PMID:25741868|PMID:26096185|PMID:26188943|PMID:26467025|PMID:26544041|PMID:26680202|PMID:27267376|PMID:27465585|PMID:27781031|PMID:28079314|PMID:28084635|PMID:28150151|PMID:28387369|PMID:28492532|PMID:28735751|PMID:28842445|PMID:29100083|PMID:29655203|PMID:29760947|PMID:30525188|PMID:30659983|PMID:30868114|PMID:31782251|PMID:32056211|PMID:32090326|PMID:32238909|PMID:9536098
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:735777	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Autosomal dominant epilepsy	PMID:10486327|PMID:10742094|PMID:11118488|PMID:11940708|PMID:12083760|PMID:12086636|PMID:14702334|PMID:14738421|PMID:16458823|PMID:16525050|PMID:17054684|PMID:17347258|PMID:17576681|PMID:17903680|PMID:18804930|PMID:18930999|PMID:19585586|PMID:19586930|PMID:19589774|PMID:20100831|PMID:20522430|PMID:20562086|PMID:21248271|PMID:21426328|PMID:21719429|PMID:21844054|PMID:21864321|PMID:22151702|PMID:22156295|PMID:23195492|PMID:23527921|PMID:23662938|PMID:23808377|PMID:23917401|PMID:24277604|PMID:24328833|PMID:25378155|PMID:25459968|PMID:25576396|PMID:25669891|PMID:25741868|PMID:26096185|PMID:26188943|PMID:26467025|PMID:26544041|PMID:26680202|PMID:27267376|PMID:27465585|PMID:27781031|PMID:28012175|PMID:28079314|PMID:28084635|PMID:28150151|PMID:28387369|PMID:28492532|PMID:28735751|PMID:28842445|PMID:29100083|PMID:29141279|PMID:29655203|PMID:29760947|PMID:30525188|PMID:30659983|PMID:30868114|PMID:31440721|PMID:31782251|PMID:31864146|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32581296|PMID:32613771|PMID:35072530|PMID:35571373|PMID:38081334|PMID:9536098
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:735777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal dominant epilepsy	
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0070309	absence epilepsy		ISO	RGD:735777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:17054684|PMID:17347258|PMID:18930999|PMID:19589774|PMID:20562086|PMID:23662938|PMID:25459968|PMID:25741868|PMID:28012175|PMID:28492532|PMID:29141279|PMID:30868114|PMID:31440721|PMID:32613771|PMID:35072530|PMID:38081334
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0070379	developmental and epileptic encephalopathy 6B		ISO	RGD:735777	D	RGD:7240710	20210526	OMIM			
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0070379	developmental and epileptic encephalopathy 6B		ISO	RGD:735777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 6B | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 6B, non-Dravet	PMID:11254445|PMID:12083760|PMID:12610651|PMID:12754708|PMID:15087100|PMID:16199547|PMID:17054684|PMID:17347258|PMID:17576681|PMID:18755274|PMID:18804930|PMID:18930999|PMID:19200853|PMID:19522081|PMID:19585586|PMID:19589774|PMID:20196795|PMID:20431604|PMID:20562086|PMID:21868258|PMID:22092154|PMID:22848613|PMID:23195492|PMID:23662938|PMID:23821540|PMID:23934111|PMID:24412860|PMID:24502503|PMID:24776920|PMID:25459968|PMID:25525159|PMID:25741868|PMID:26096185|PMID:26467025|PMID:26501104|PMID:26680202|PMID:26990884|PMID:27652284|PMID:27781031|PMID:28012175|PMID:28084635|PMID:28202706|PMID:28469861|PMID:28492532|PMID:28664031|PMID:29141279|PMID:29186148|PMID:29358611|PMID:29655203|PMID:29745119|PMID:29852413|PMID:30619928|PMID:30868114|PMID:31054490|PMID:31440721|PMID:31755124|PMID:31782251|PMID:31864146|PMID:31875159|PMID:32090326|PMID:32538476|PMID:32613771|PMID:33067208|PMID:33278787|PMID:33391346|PMID:35072530|PMID:35074891|PMID:35087721|PMID:35627257|PMID:36684540|PMID:38081334|PMID:38250573|PMID:9536098
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:735777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:17576681|PMID:28492532|PMID:9536098
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0080422	Dravet syndrome		ISO	RGD:735777	D	RGD:7240710	20180228	OMIM			
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0080422	Dravet syndrome		ISO	RGD:735777	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 6 | ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy 6 | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy	PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15263074|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17000989|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18566737|PMID:18680191|PMID:18804930|PMID:1893009|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301494|PMID:20431604|PMID:20452746|PMID:20491869|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20831750|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21753172|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:22944210|PMID:23086956|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23773995|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24328833|PMID:24502503|PMID:24656210|PMID:24679980|PMID:24776920|PMID:25206388|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25459969|PMID:25525159|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25741869|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:28864458|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30034362|PMID:30142967|PMID:30146492|PMID:30182498|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30735520|PMID:30868114|PMID:30945278|PMID:31001185|PMID:31009440|PMID:31031587|PMID:31069529|PMID:31102827|PMID:31139143|PMID:31164858|PMID:31439038|PMID:31765958|PMID:31780880|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32238909|PMID:32461654|PMID:32488064|PMID:32538476|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33674996|PMID:34015165|PMID:34379890|PMID:34489640|PMID:34539730|PMID:35074891|PMID:35087721|PMID:35663268|PMID:36229510|PMID:9536098|PMID:9573403
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0080422	Dravet syndrome		ISO	RGD:735777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A | ClinVar Annotator: match by term: DRAVET SYNDROME | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 6 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 6A | ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: SEVERE MYOCLONIC EPILEPSY OF INFANCY | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy	PMID:10742094|PMID:11254445|PMID:11359211|PMID:11422459|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12837571|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16541393|PMID:16713920|PMID:17054684|PMID:17054685|PMID:17347258|PMID:17561957|PMID:17576681|PMID:18076640|PMID:18554359|PMID:18566737|PMID:18755274|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19522081|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19782004|PMID:20110217|PMID:20301494|PMID:20431604|PMID:20491869|PMID:20522430|PMID:20562086|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21713554|PMID:21719429|PMID:21868258|PMID:22050978|PMID:22092154|PMID:22147323|PMID:22151702|PMID:22409937|PMID:22780858|PMID:22848613|PMID:22944210|PMID:23086956|PMID:23195492|PMID:23662938|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23934111|PMID:24136861|PMID:24168886|PMID:24328833|PMID:24412860|PMID:24502503|PMID:24656210|PMID:24776920|PMID:25206388|PMID:25243660|PMID:25348405|PMID:25459968|PMID:25525159|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25741869|PMID:25754450|PMID:25885068|PMID:26096185|PMID:26467025|PMID:26501104|PMID:26544041|PMID:26845707|PMID:26990884|PMID:27113213|PMID:27231140|PMID:27236449|PMID:27465585|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28837158|PMID:28864458|PMID:28951233|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29573403|PMID:29655203|PMID:29745119|PMID:29852413|PMID:30146492|PMID:30185235|PMID:30311386|PMID:30619928|PMID:30735520|PMID:30868114|PMID:30921204|PMID:31031587|PMID:31054490|PMID:31400703|PMID:31440721|PMID:31445158|PMID:31487502|PMID:31755124|PMID:31780880|PMID:31864146|PMID:32056211|PMID:32090326|PMID:32414541|PMID:32538476|PMID:32581296|PMID:32613771|PMID:32702657|PMID:32845893|PMID:33067208|PMID:33108073|PMID:33278787|PMID:33391346|PMID:34145886|PMID:34174751|PMID:34379890|PMID:34539730|PMID:34917021|PMID:35072530|PMID:35074891|PMID:35087721|PMID:35571373|PMID:35627257|PMID:35786744|PMID:36198807|PMID:36684540|PMID:36868483|PMID:36964972|PMID:37524782|PMID:38081334|PMID:38221827|PMID:38250573|PMID:39181834|PMID:39202364|PMID:9536098
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:735777	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome	PMID:11940708|PMID:12083760|PMID:16458823|PMID:20522430|PMID:22151702|PMID:23195492|PMID:23808377|PMID:25741868|PMID:26096185|PMID:26467025|PMID:28492532
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:735777	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome	PMID:11940708|PMID:12083760|PMID:16458823|PMID:17347258|PMID:18804930|PMID:18930999|PMID:20522430|PMID:21248271|PMID:22151702|PMID:23195492|PMID:23808377|PMID:25741868|PMID:26096185|PMID:26467025|PMID:26544041|PMID:28079314|PMID:28387369|PMID:28492532|PMID:29100083|PMID:30619928|PMID:31864146|PMID:32056211|PMID:32090326|PMID:35571373
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0111183	familial hemiplegic migraine 3		ISO	RGD:735777	D	RGD:7240710	20180130	OMIM			
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0111183	familial hemiplegic migraine 3		ISO	RGD:735777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Migraine, familial hemiplegic, 3	PMID:11254445|PMID:12083760|PMID:12610651|PMID:12754708|PMID:16199547|PMID:16458823|PMID:17054684|PMID:17347258|PMID:17576681|PMID:18076640|PMID:18755274|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19522081|PMID:19585586|PMID:19589774|PMID:20431604|PMID:20879882|PMID:21248271|PMID:21713554|PMID:21719429|PMID:21868258|PMID:22050978|PMID:22092154|PMID:22409937|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23808377|PMID:23821540|PMID:23934111|PMID:24168886|PMID:24328833|PMID:24412860|PMID:24502503|PMID:25243660|PMID:25525159|PMID:25741868|PMID:25885068|PMID:26096185|PMID:26467025|PMID:26501104|PMID:26845707|PMID:26990884|PMID:27113213|PMID:27231140|PMID:27236449|PMID:28079314|PMID:28492532|PMID:28951233|PMID:29186148|PMID:29358611|PMID:29655203|PMID:29745119|PMID:29852413|PMID:30619928|PMID:31054490|PMID:31755124|PMID:31864146|PMID:32090326|PMID:33067208|PMID:33278787|PMID:33391346|PMID:34645491|PMID:35074891|PMID:36684540|PMID:36964972|PMID:38250573|PMID:9536098
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0111294	generalized epilepsy with febrile seizures plus 2		ISO	RGD:735777	D	RGD:7240710	20180130	OMIM			
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0111294	generalized epilepsy with febrile seizures plus 2		ISO	RGD:735777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GEFS+, TYPE 2 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2	PMID:10742094|PMID:11254445|PMID:11422459|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:14702334|PMID:14738421|PMID:16199547|PMID:16458823|PMID:17054684|PMID:17347258|PMID:17576681|PMID:18076640|PMID:18755274|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19522081|PMID:19585586|PMID:19589774|PMID:20110217|PMID:20301494|PMID:20431604|PMID:20522430|PMID:20562086|PMID:20879882|PMID:21248271|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22151702|PMID:22409937|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23662938|PMID:23808377|PMID:23821540|PMID:23934111|PMID:24412860|PMID:24502503|PMID:25243660|PMID:25348405|PMID:25459968|PMID:25525159|PMID:25741868|PMID:26096185|PMID:26169758|PMID:26467025|PMID:26501104|PMID:26544041|PMID:26845707|PMID:26990884|PMID:27231140|PMID:27236449|PMID:27734276|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28951233|PMID:29100083|PMID:29141279|PMID:29186148|PMID:29358611|PMID:29573403|PMID:29655203|PMID:29745119|PMID:29778030|PMID:29852413|PMID:30500825|PMID:30558019|PMID:30619928|PMID:30868114|PMID:31054490|PMID:31440721|PMID:31487502|PMID:31677916|PMID:31755124|PMID:31782251|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32276107|PMID:32613771|PMID:32875726|PMID:33067208|PMID:33278787|PMID:33391346|PMID:33895391|PMID:34293681|PMID:34489640|PMID:34645491|PMID:35072530|PMID:35074891|PMID:35571373|PMID:35627257|PMID:35663268|PMID:35944423|PMID:36158059|PMID:36374051|PMID:36684540|PMID:36964972|PMID:37209046|PMID:38081334|PMID:38250573|PMID:9536098
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0111302	generalized epilepsy with febrile seizures plus 1		ISO	RGD:735777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1	PMID:10742094|PMID:11254444|PMID:11422459|PMID:11567038|PMID:12086636|PMID:12576172|PMID:12919402|PMID:14702334|PMID:16075041|PMID:17347258|PMID:17561957|PMID:17679682|PMID:18804930|PMID:18930999|PMID:19464195|PMID:20522430|PMID:20550552|PMID:22780858|PMID:23195492|PMID:25348405|PMID:25576396|PMID:25741868|PMID:28192756|PMID:28202706|PMID:28492532|PMID:30619928|PMID:30977726|PMID:31440721|PMID:35074891
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0111307	familial febrile seizures 1		ISO	RGD:735777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Febrile seizures, familial, 1	PMID:17347258|PMID:18930999|PMID:28492532
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:1868258|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26252084|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28492532|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31069529|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:9126059|PMID:9536098
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:15805193|PMID:16199547|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25741868|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26236192|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26763045|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28387369|PMID:28492532|PMID:28525652|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29145747|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29852413|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31487502|PMID:31730442|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:33391346|PMID:9126059|PMID:9536098
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy	PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:15805193|PMID:15880351|PMID:16199547|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25741868|PMID:25754450|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26314341|PMID:26339958|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26763045|PMID:26845707|PMID:26934580|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518218|PMID:28525652|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29145747|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31487502|PMID:31730442|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:33391346|PMID:9126059|PMID:9536098
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: KCNA3-associated developmental and epileptic encephalopathy	PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11823106|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15133511|PMID:15263074|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:15880351|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16359470|PMID:16380441|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:17928445|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18251839|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18566737|PMID:18621678|PMID:18632234|PMID:18755274|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19220312|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19783390|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301494|PMID:20301562|PMID:20307669|PMID:20358599|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20619928|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21426328|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21775168|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22028529|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22525008|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22944210|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23032131|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23485646|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24412860|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24848745|PMID:24876116|PMID:25108116|PMID:25206388|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25356970|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25569746|PMID:25576396|PMID:25590135|PMID:25640679|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25795284|PMID:25818041|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26763045|PMID:26795593|PMID:26845707|PMID:26863999|PMID:26934580|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27155821|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27458797|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27582020|PMID:27652284|PMID:27734276|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28379373|PMID:28387369|PMID:28469861|PMID:28488083|PMID:28492532
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:28518168|PMID:28518218|PMID:28525652|PMID:28544625|PMID:28554332|PMID:28664031|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28837158|PMID:28842445|PMID:28864458|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29095814|PMID:29100083|PMID:29141279|PMID:29141311|PMID:29142202|PMID:29145747|PMID:29186148|PMID:29188601|PMID:29190809|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29455050|PMID:29460957|PMID:29573403|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:29930392|PMID:29933521|PMID:29948376|PMID:29981888|PMID:29986598|PMID:30011152|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30526861|PMID:30558019|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30660939|PMID:30779207|PMID:30795902|PMID:30805006|PMID:30868114|PMID:30921204|PMID:30945278|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31019026|PMID:31031587|PMID:31054490|PMID:31069529|PMID:31139143|PMID:31164858|PMID:31175295|PMID:31273778|PMID:31302675|PMID:31439038|PMID:31440721|PMID:31487502|PMID:31618474|PMID:31618753|PMID:31677916|PMID:31720899|PMID:31730442|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:31880072|PMID:32031527|PMID:32056211|PMID:32090326|PMID:32139178|PMID:32238909|PMID:32276107|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:32593896|PMID:32613771|PMID:32702657|PMID:32845893|PMID:33067208|PMID:33084218|PMID:33108073|PMID:33278787|PMID:33391346|PMID:33411788|PMID:33674996|PMID:33895391|PMID:34015165|PMID:34055682|PMID:34106054|PMID:34107977|PMID:34163418|PMID:34174751|PMID:34268891|PMID:34338318|PMID:34379890|PMID:34489640|PMID:34539730|PMID:34645491|PMID:34712263|PMID:34917021|PMID:34938262|PMID:35072530|PMID:35074891|PMID:35087721|PMID:35231114|PMID:35571373|PMID:35627257|PMID:35663268|PMID:36158059|PMID:36229510|PMID:36287100|PMID:36636894|PMID:36684540|PMID:39033378|PMID:9126059|PMID:9536098|PMID:9573403
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: KCNA3-associated developmental and epileptic encephalopathy	PMID:28518168|PMID:28518218|PMID:28525652|PMID:28544625|PMID:28554332|PMID:28664031|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28837158|PMID:28842445|PMID:28864458|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29095814|PMID:29100083|PMID:29141279|PMID:29141311|PMID:29142202|PMID:29145747|PMID:29186148|PMID:29188601|PMID:29190809|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29455050|PMID:29460957|PMID:29573403|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:29930392|PMID:29933521|PMID:29948376|PMID:29981888|PMID:29986598|PMID:30011152|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30526861|PMID:30558019|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30660939|PMID:30779207|PMID:30795902|PMID:30805006|PMID:30868114|PMID:30921204|PMID:30945278|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31019026|PMID:31031587|PMID:31054490|PMID:31069529|PMID:31139143|PMID:31164858|PMID:31175295|PMID:31273778|PMID:31302675|PMID:31439038|PMID:31440721|PMID:31487502|PMID:31618474|PMID:31618753|PMID:31677916|PMID:31720899|PMID:31730442|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:31880072|PMID:32031527|PMID:32056211|PMID:32090326|PMID:32139178|PMID:32238909|PMID:32276107|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:32593896|PMID:32613771|PMID:32702657|PMID:32845893|PMID:33067208|PMID:33084218|PMID:33108073|PMID:33278787|PMID:33391346|PMID:33411788|PMID:33674996|PMID:33895391|PMID:34015165|PMID:34055682|PMID:34106054|PMID:34107977|PMID:34163418|PMID:34174751|PMID:34268891|PMID:34338318|PMID:34379890|PMID:34489640|PMID:34539730|PMID:34645491|PMID:34712263|PMID:34917021|PMID:34938262|PMID:35072530|PMID:35074891|PMID:35087721|PMID:35231114|PMID:35571373|PMID:35627257|PMID:35663268|PMID:36158059|PMID:36229510|PMID:36287100|PMID:36636894|PMID:36684540|PMID:37524782|PMID:39033378|PMID:9126059|PMID:9536098|PMID:9573403
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11823106|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15133511|PMID:15263074|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:15880351|PMID:16054936|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16359470|PMID:16380441|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17020904|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:17928445|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18251839|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18566737|PMID:18621678|PMID:18632234|PMID:18632931|PMID:18755274|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19220312|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19783390|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20196795|PMID:20301494|PMID:20301562|PMID:20307669|PMID:20358599|PMID:20410126|PMID:20431604|PMID:20452746|PMID:20522430|PMID:2052243023195492|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20619928|PMID:20707984|PMID:20729507|PMID:20738378|PMID:20875856|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21426328|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21775168|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22028529|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22525008|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22944210|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23032131|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23485646|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24412860|PMID:24422737|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24776920|PMID:24848745|PMID:24876116|PMID:25108116|PMID:25206388|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25356970|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25569746|PMID:25576396|PMID:25590135|PMID:25640679|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25795284|PMID:25818041|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26394714|PMID:26438699|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26747084|PMID:26763045|PMID:26795593|PMID:26845707|PMID:26863999|PMID:26934580|PMID:26986070|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27155821|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27457812|PMID:27458797|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27582020|PMID:27652284|PMID:27734276|PMID:27781031|PMID:27843123|PMID:27864847|PMID:27959697|PMID:28012175
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28379373|PMID:28387369|PMID:28469861|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28518218|PMID:28525652|PMID:28544625|PMID:28554332|PMID:28664031|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28837158|PMID:28842445|PMID:28864458|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29095814|PMID:29100083|PMID:29141279|PMID:29141311|PMID:29142202|PMID:29145747|PMID:29186148|PMID:29188601|PMID:29190809|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29455050|PMID:29460957|PMID:29573403|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:29930392|PMID:29933521|PMID:29948376|PMID:29981888|PMID:29986598|PMID:30008475|PMID:30011152|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30526861|PMID:30558019|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30660939|PMID:30779207|PMID:30795902|PMID:30805006|PMID:30868114|PMID:30921204|PMID:30945278|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31019026|PMID:31031587|PMID:31054490|PMID:31069529|PMID:31139143|PMID:31164858|PMID:31175295|PMID:31273778|PMID:31302675|PMID:31439038|PMID:31440721|PMID:31487502|PMID:31618474|PMID:31618753|PMID:31677916|PMID:31720899|PMID:31730442|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:31880072|PMID:32031527|PMID:32056211|PMID:32090326|PMID:32139178|PMID:32238909|PMID:32276107|PMID:32347949|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:32593896|PMID:32613771|PMID:32702657|PMID:32845893|PMID:33067208|PMID:33084218|PMID:33108073|PMID:33156843|PMID:33278787|PMID:33391346|PMID:33411788|PMID:33674996|PMID:33767182|PMID:33895391|PMID:34015165|PMID:34055682|PMID:34106054|PMID:34107977|PMID:34145886|PMID:34163418|PMID:34174751|PMID:34268891|PMID:34293681|PMID:34338318|PMID:34365615|PMID:34379890|PMID:34469436|PMID:34489640|PMID:34539730|PMID:34645491|PMID:34712263|PMID:34816733|PMID:34917021|PMID:34938262|PMID:35002916|PMID:35072530|PMID:35074891|PMID:35087721|PMID:35231114|PMID:35571373|PMID:35586607|PMID:35627257|PMID:35663268|PMID:35813073|PMID:35886038|PMID:35944423|PMID:36158059|PMID:36229510|PMID:36287100|PMID:36480001|PMID:36636894|PMID:36672823|PMID:36684540|PMID:36820031|PMID:37209046|PMID:37524782|PMID:37955180|PMID:38891831|PMID:39033378|PMID:9126059|PMID:9536098|PMID:9573403
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28379373|PMID:28387369|PMID:28469861|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28518218|PMID:28525652|PMID:28544625|PMID:28554332|PMID:28664031|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28837158|PMID:28842445|PMID:28864458|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29095814|PMID:29100083|PMID:29141279|PMID:29141311|PMID:29142202|PMID:29145747|PMID:29186148|PMID:29188601|PMID:29190809|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29455050|PMID:29460957|PMID:29573403|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:29930392|PMID:29933521|PMID:29948376|PMID:29981888|PMID:29986598|PMID:30008475|PMID:30011152|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30500825|PMID:30525188|PMID:30526861|PMID:30558019|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30660939|PMID:30779207|PMID:30795902|PMID:30805006|PMID:30868114|PMID:30921204|PMID:30945278|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31019026|PMID:31031587|PMID:31054490|PMID:31069529|PMID:31139143|PMID:31164858|PMID:31175295|PMID:31273778|PMID:31302675|PMID:31439038|PMID:31440721|PMID:31487502|PMID:31618474|PMID:31618753|PMID:31677916|PMID:31720899|PMID:31730442|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:31880072|PMID:32031527|PMID:32056211|PMID:32090326|PMID:32139178|PMID:32238909|PMID:32276107|PMID:32347949|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:32593896|PMID:32613771|PMID:32702657|PMID:32845893|PMID:32875726|PMID:33067208|PMID:33084218|PMID:33108073|PMID:33156843|PMID:33278787|PMID:33391346|PMID:33411788|PMID:33674996|PMID:33767182|PMID:33895391|PMID:34015165|PMID:34055682|PMID:34106054|PMID:34107977|PMID:34145886|PMID:34163418|PMID:34174751|PMID:34268891|PMID:34293681|PMID:34338318|PMID:34365615|PMID:34379890|PMID:34469436|PMID:34489640|PMID:34539730|PMID:34645491|PMID:34712263|PMID:34816733|PMID:34917021|PMID:34938262|PMID:35002916|PMID:35072530|PMID:35074891|PMID:35087721|PMID:35231114|PMID:35571373|PMID:35586607|PMID:35627257|PMID:35663268|PMID:35813073|PMID:35886038|PMID:35944423|PMID:36158059|PMID:36229510|PMID:36287100|PMID:36374051|PMID:36480001|PMID:36636894|PMID:36672823|PMID:36684540|PMID:36820031|PMID:37209046|PMID:37524782|PMID:37955180|PMID:38891831|PMID:39033378|PMID:9126059|PMID:9536098|PMID:9573403
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11823106|PMID:11940708|PMID:11977178|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15133511|PMID:15263074|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:15880351|PMID:16054936|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16359470|PMID:16380441|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17020904|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:17928445|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18251839|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18566737|PMID:18621678|PMID:18632234|PMID:18632931|PMID:18755274|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19220312|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19783390|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20196795|PMID:20301494|PMID:20301562|PMID:20307669|PMID:20358599|PMID:20410126|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20619928|PMID:20707984|PMID:20729507|PMID:20738378|PMID:20875856|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21426328|PMID:21555645|PMID:21600797|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21775168|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22028529|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22525008|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22944210|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23032131|PMID:23055484|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23485646|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24412860|PMID:24422737|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24776920|PMID:24805083|PMID:24848745|PMID:24876116|PMID:25108116|PMID:25206388|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25356970|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25569746|PMID:25576396|PMID:25590135|PMID:25640679|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25795284|PMID:25818041|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26394714|PMID:26438699|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26747084|PMID:26763045|PMID:26795593|PMID:26845707|PMID:26863999|PMID:26934580|PMID:26986070|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27155821|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27457812|PMID:27458797|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27582020|PMID:27652284|PMID:27734276|PMID:27781031|PMID:27843123
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy	PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28379373|PMID:28387369|PMID:28469861|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28518218|PMID:28525652|PMID:28544625|PMID:28554332|PMID:28664031|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28837158|PMID:28842445|PMID:28864458|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29095814|PMID:29096607|PMID:29100083|PMID:29141279|PMID:29141311|PMID:29142202|PMID:29145747|PMID:29186148|PMID:29188601|PMID:29190809|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29455050|PMID:29460957|PMID:29573403|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:29930392|PMID:29933521|PMID:29948376|PMID:29981888|PMID:29986598|PMID:30008475|PMID:30011152|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30500825|PMID:30525188|PMID:30526861|PMID:30558019|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30660939|PMID:30779207|PMID:30795902|PMID:30805006|PMID:30868114|PMID:30921204|PMID:30945278|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31019026|PMID:31031587|PMID:31054490|PMID:31069529|PMID:31139143|PMID:31164858|PMID:31175295|PMID:31273778|PMID:31302675|PMID:31439038|PMID:31440721|PMID:31487502|PMID:31618474|PMID:31618753|PMID:31677916|PMID:31720899|PMID:31730442|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31786370|PMID:31791873|PMID:31864146|PMID:31875159|PMID:31880072|PMID:32031527|PMID:32056211|PMID:32090326|PMID:32139178|PMID:32238909|PMID:32276107|PMID:32347949|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:32593896|PMID:32613771|PMID:32702657|PMID:32845893|PMID:32875726|PMID:33067208|PMID:33084218|PMID:33108073|PMID:33156843|PMID:33278787|PMID:33391346|PMID:33411788|PMID:33658306|PMID:33674996|PMID:33767182|PMID:33895391|PMID:34015165|PMID:34055682|PMID:34106054|PMID:34107977|PMID:34145886|PMID:34163418|PMID:34174751|PMID:34268891|PMID:34293681|PMID:34338318|PMID:34365615|PMID:34379890|PMID:34469436|PMID:34489640|PMID:34539730|PMID:34645491|PMID:34712263|PMID:34816733|PMID:34917021|PMID:34938262|PMID:35002916|PMID:35072530|PMID:35074891|PMID:35087721|PMID:35231114|PMID:35571373|PMID:35586607|PMID:35627257|PMID:35663268|PMID:35813073|PMID:35886038|PMID:35944423|PMID:36158059|PMID:36229510|PMID:36287100|PMID:36374051|PMID:36480001|PMID:36636894|PMID:36672823|PMID:36684540|PMID:36820031|PMID:37209046|PMID:37524782|PMID:37955180|PMID:38891831|PMID:39033378|PMID:9126059|PMID:9288758|PMID:9536098|PMID:9573403
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:14738421|PMID:16199547|PMID:17054684|PMID:17347258|PMID:17561957|PMID:17576681|PMID:18930999|PMID:19400878|PMID:19522081|PMID:19589774|PMID:20522430|PMID:21248271|PMID:21416599|PMID:21692795|PMID:21868258|PMID:22848613|PMID:23016767|PMID:23184456|PMID:23195492|PMID:23708187|PMID:25640679|PMID:25741868|PMID:26068938|PMID:26339958|PMID:28012175|PMID:28356460|PMID:28492532|PMID:29188601|PMID:29745119|PMID:29933521|PMID:35571373|PMID:9536098
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:735777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:26467025|PMID:28492532
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:735777	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: intellectual disabilities	PMID:11254445|PMID:11359211|PMID:12610651|PMID:12821740|PMID:14738421|PMID:17054684|PMID:17347258|PMID:17561957|PMID:18930999|PMID:19200853|PMID:19522081|PMID:19585586|PMID:20879882|PMID:21868258|PMID:22150645|PMID:22612257|PMID:22848613|PMID:23195492|PMID:23934111|PMID:24168886|PMID:24502503|PMID:25741868|PMID:26096185|PMID:26990884|PMID:28084635|PMID:28492532|PMID:29100083|PMID:29186148|PMID:29358611|PMID:29655203|PMID:29948376|PMID:32090326|PMID:32538476
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:735777	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:11254445|PMID:12610651|PMID:12754708|PMID:17054684|PMID:17347258|PMID:18930999|PMID:19200853|PMID:19522081|PMID:19585586|PMID:20431604|PMID:21868258|PMID:22848613|PMID:23195492|PMID:23808377|PMID:23934111|PMID:24168886|PMID:24328833|PMID:24502503|PMID:25741868|PMID:25885068|PMID:26096185|PMID:26990884|PMID:27113213|PMID:27236449|PMID:28084635|PMID:28492532|PMID:29186148|PMID:29358611|PMID:29655203|PMID:32090326|PMID:32538476
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:735777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:11254445|PMID:12610651|PMID:12754708|PMID:17054684|PMID:17347258|PMID:18930999|PMID:19200853|PMID:19522081|PMID:19585586|PMID:19589774|PMID:20110217|PMID:20431604|PMID:20522430|PMID:20562086|PMID:21868258|PMID:22848613|PMID:23195492|PMID:23662938|PMID:23808377|PMID:23934111|PMID:24168886|PMID:24328833|PMID:24502503|PMID:25206388|PMID:25459968|PMID:25741868|PMID:25885068|PMID:26096185|PMID:26501104|PMID:26990884|PMID:27113213|PMID:27236449|PMID:28012175|PMID:28084635|PMID:28492532|PMID:29141279|PMID:29186148|PMID:29358611|PMID:29655203|PMID:30868114|PMID:31440721|PMID:32090326|PMID:32538476|PMID:32613771|PMID:34145886|PMID:35072530|PMID:38081334|PMID:39181834
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:10907	microcephaly		ISO	RGD:735777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:17347258|PMID:18930999|PMID:20110217|PMID:20522430|PMID:24502503|PMID:25206388|PMID:25741868|PMID:26096185|PMID:26501104|PMID:28492532|PMID:34145886|PMID:39181834
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:735777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:17054684|PMID:17347258|PMID:18930999|PMID:23808377|PMID:25741868|PMID:26096185|PMID:27465585|PMID:28492532
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:12849	autistic disorder		ISO	RGD:735777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:11254445|PMID:12610651|PMID:18930999|PMID:19200853|PMID:19522081|PMID:23195492|PMID:25741868|PMID:26990884|PMID:28492532|PMID:29358611
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:735777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:14738421|PMID:23195492|PMID:28492532
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:13994	cleidocranial dysplasia		ISO	RGD:735777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Large fontanelles	PMID:25741868|PMID:28492532
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:1824	status epilepticus		ISO	RGD:735777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:17054684|PMID:17347258|PMID:18930999|PMID:19589774|PMID:20562086|PMID:23662938|PMID:25459968|PMID:25741868|PMID:28012175|PMID:28492532|PMID:29141279|PMID:30868114|PMID:31440721|PMID:32613771|PMID:35072530|PMID:38081334
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:1826	epilepsy		ISO	RGD:735777	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:11254444|PMID:11254445|PMID:12083760|PMID:12566275|PMID:12610651|PMID:14504318|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16525050|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17166794|PMID:17347258|PMID:17561957|PMID:18021921|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19522081|PMID:19585586|PMID:19589774|PMID:20431604|PMID:20522430|PMID:20550552|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21713554|PMID:21864321|PMID:21868258|PMID:22011963|PMID:22071555|PMID:22409937|PMID:22550089|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398611|PMID:23808377|PMID:23895530|PMID:23934111|PMID:24168886|PMID:24277604|PMID:24337656|PMID:24464349|PMID:24656210|PMID:24679980|PMID:25401298|PMID:25576396|PMID:25741868|PMID:26096185|PMID:26232052|PMID:26467025|PMID:26845707|PMID:26990884|PMID:27236449|PMID:27465585|PMID:27781031|PMID:28012175|PMID:28084635|PMID:28148630|PMID:28150151|PMID:28492532|PMID:28794249|PMID:29141311|PMID:29186148|PMID:29358611|PMID:29852413|PMID:30735520|PMID:31302675|PMID:31765958|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32090326|PMID:32581362
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:1826	epilepsy		ISO	RGD:735777	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Convulsions | ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder	PMID:10521305|PMID:10742094|PMID:11254444|PMID:11254445|PMID:11567038|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:14504318|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16525050|PMID:16713913|PMID:16713920|PMID:17020904|PMID:17054684|PMID:17166794|PMID:17347258|PMID:17561957|PMID:18021921|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19522081|PMID:19585586|PMID:19589774|PMID:20431604|PMID:20522430|PMID:20550552|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21713554|PMID:21864321|PMID:21868258|PMID:22011963|PMID:22071555|PMID:22409937|PMID:22550089|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398611|PMID:23808377|PMID:23895530|PMID:23934111|PMID:24168886|PMID:24277604|PMID:24337656|PMID:24464349|PMID:24502503|PMID:24656210|PMID:24679980|PMID:25401298|PMID:25576396|PMID:25741868|PMID:26096185|PMID:26232052|PMID:26467025|PMID:26845707|PMID:26990884|PMID:27236449|PMID:27465585|PMID:27781031|PMID:27843123|PMID:28012175|PMID:28084635|PMID:28148630|PMID:28150151|PMID:28192756|PMID:28492532|PMID:28794249|PMID:29141311|PMID:29186148|PMID:29190809|PMID:29358611|PMID:29852413|PMID:30735520|PMID:30779207|PMID:31031587|PMID:31302675|PMID:31755124|PMID:31765958|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32090326|PMID:32276107|PMID:32347949|PMID:32581362|PMID:34645491
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:1826	epilepsy		ISO	RGD:735777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: epilepsy | ClinVar Annotator: match by term: seizure	PMID:10742094|PMID:11254445|PMID:11422459|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:14702334|PMID:16199547|PMID:16458823|PMID:17054684|PMID:17347258|PMID:17576681|PMID:18804930|PMID:18930999|PMID:19200853|PMID:19522081|PMID:19585586|PMID:19589774|PMID:20431604|PMID:20522430|PMID:20562086|PMID:21248271|PMID:21868258|PMID:22071555|PMID:22151702|PMID:22409937|PMID:22848613|PMID:23195492|PMID:23662938|PMID:23808377|PMID:23821540|PMID:23934111|PMID:24168886|PMID:24328833|PMID:24502503|PMID:25459968|PMID:25741868|PMID:25885068|PMID:26096185|PMID:26467025|PMID:26501104|PMID:26544041|PMID:26990884|PMID:27113213|PMID:27236449|PMID:27465585|PMID:28012175|PMID:28079314|PMID:28148630|PMID:28192756|PMID:28387369|PMID:28492532|PMID:29100083|PMID:29141279|PMID:29186148|PMID:29190809|PMID:29358611|PMID:30868114|PMID:31440721|PMID:31864146|PMID:32056211|PMID:32090326|PMID:32581362|PMID:32613771|PMID:33067208|PMID:33278787|PMID:34293681|PMID:35072530|PMID:35074891|PMID:35359575|PMID:35571373|PMID:37541188|PMID:38081334|PMID:38250573|PMID:9536098
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:735777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:24776920|PMID:25741868|PMID:28492532
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:2394	ovarian cancer		ISO	RGD:735777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:26467025|PMID:28492532
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe	PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20110217|PMID:20117752|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24328833|PMID:24502503|PMID:24656210|PMID:24679980|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25525159|PMID:25590135|PMID:25741868|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26467025|PMID:26544041|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28084635|PMID:28148630|PMID:28150151|PMID:28192756|PMID:28202706|PMID:28488083|PMID:28492532|PMID:28708303|PMID:28794249|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29358611|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:30182498|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30868114|PMID:31031587|PMID:31765958|PMID:31780880|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669|PMID:32581362|PMID:9536098
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe	PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:22944210|PMID:23086956|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24328833|PMID:24502503|PMID:24656210|PMID:24679980|PMID:25206388|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25459969|PMID:25525159|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26467025|PMID:26544041|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30868114|PMID:30945278|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31765958|PMID:31780880|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32238909|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33674996|PMID:34015165|PMID:34379890|PMID:34489640|PMID:34539730|PMID:9536098|PMID:9573403
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe	PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18566737|PMID:18755274|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:22944210|PMID:23086956|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24328833|PMID:24412860|PMID:24502503|PMID:24656210|PMID:24679980|PMID:25206388|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25459969|PMID:25525159|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26467025|PMID:26544041|PMID:26633542|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29190809|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30868114|PMID:30945278|PMID:31001185|PMID:31009440|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32238909|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33674996|PMID:34015165|PMID:34268891|PMID:34338318|PMID:34379890|PMID:34489640|PMID:34539730|PMID:35074891|PMID:36684540|PMID:9536098|PMID:9573403
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe	PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11823106|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15263074|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16210358|PMID:16359470|PMID:16380441|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:17928445|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18566737|PMID:18621678|PMID:18755274|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19220312|PMID:19236456|PMID:19332696|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301562|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22525008|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:22944210|PMID:23086956|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24412860|PMID:24502503|PMID:24656210|PMID:24679980|PMID:24776920|PMID:25206388|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25459969|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26467025|PMID:26544041|PMID:26633542|PMID:26699486|PMID:26763045|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27652284|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28544625|PMID:28554332|PMID:28590052|PMID:28664031|PMID:28708303|PMID:28794249|PMID:28837158|PMID:28864458|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29141311|PMID:29142202|PMID:29145747|PMID:29186148|PMID:29190809|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:29933521|PMID:29948376|PMID:29981888|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30185235|PMID:30258939|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30526861|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30779207|PMID:30868114|PMID:30921204|PMID:30945278|PMID:31001185|PMID:31009440|PMID:31019026|PMID:31031587|PMID:31054490|PMID:31069529|PMID:31164858|PMID:31440721|PMID:31487502|PMID:31618474|PMID:31730442|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:31880072|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:32593896|PMID:32613771|PMID:32702657|PMID:32845893|PMID:33067208|PMID:33084218|PMID:33278787|PMID:33391346|PMID:33411788|PMID:33674996|PMID:34015165|PMID:34107977|PMID:34163418|PMID:34268891|PMID:34338318|PMID:34379890|PMID:34489640|PMID:34539730|PMID:35072530|PMID:35074891|PMID:35087721|PMID:35571373
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe	PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11823106|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15263074|PMID:15277629|PMID:15508916|PMID:15880351|PMID:16199547|PMID:16210358|PMID:16359470|PMID:16380441|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:17928445|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18566737|PMID:18621678|PMID:18755274|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19220312|PMID:19236456|PMID:19332696|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301494|PMID:20301562|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22525008|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:22944210|PMID:23086956|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24412860|PMID:24422737|PMID:24502503|PMID:24656210|PMID:24679980|PMID:24776920|PMID:25206388|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25459969|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26467025|PMID:26544041|PMID:26633542|PMID:26699486|PMID:26747084|PMID:26763045|PMID:26845707|PMID:26934580|PMID:26986070|PMID:26990884|PMID:26993267|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27457812|PMID:27465585|PMID:27652284|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28544625|PMID:28554332|PMID:28664031|PMID:28708303|PMID:28794249|PMID:28837158|PMID:28864458|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29141311|PMID:29142202|PMID:29145747|PMID:29186148|PMID:29190809|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29573403|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:29933521|PMID:29948376|PMID:29981888|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30185235|PMID:30258939|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30526861|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30779207|PMID:30805006|PMID:30868114|PMID:30921204|PMID:30945278|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31019026|PMID:31031587|PMID:31054490|PMID:31069529|PMID:31164858|PMID:31302675|PMID:31440721|PMID:31487502|PMID:31618474|PMID:31730442|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:31880072|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32276107|PMID:32347949|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:32593896|PMID:32613771|PMID:32702657|PMID:32845893|PMID:33067208|PMID:33084218|PMID:33156843|PMID:33278787|PMID:33391346
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe	PMID:33411788|PMID:33674996|PMID:34015165|PMID:34107977|PMID:34163418|PMID:34174751|PMID:34268891|PMID:34338318|PMID:34379890|PMID:34489640|PMID:34539730|PMID:34816733|PMID:34917021|PMID:35002916|PMID:35072530|PMID:35074891|PMID:35087721|PMID:35571373|PMID:35627257|PMID:35663268|PMID:35944423|PMID:36158059|PMID:36287100|PMID:36684540|PMID:36820031|PMID:37209046|PMID:37524782|PMID:38891831|PMID:39033378|PMID:9536098|PMID:9573403
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe	PMID:10521305|PMID:10742094|PMID:11254445|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:14702334|PMID:16199547|PMID:16458823|PMID:16525050|PMID:17347258|PMID:17561957|PMID:18076640|PMID:18804930|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19522081|PMID:19589774|PMID:20110217|PMID:20522430|PMID:20879882|PMID:21248271|PMID:21713554|PMID:21864321|PMID:21868258|PMID:22071555|PMID:22151702|PMID:22409937|PMID:22848613|PMID:23195492|PMID:23808377|PMID:23934111|PMID:24277604|PMID:24502503|PMID:24776920|PMID:25206388|PMID:25243660|PMID:25326635|PMID:25576396|PMID:25741868|PMID:26096185|PMID:26467025|PMID:26544041|PMID:26845707|PMID:26990884|PMID:27231140|PMID:27236449|PMID:28079314|PMID:28084635|PMID:28148630|PMID:28150151|PMID:28192756|PMID:28387369|PMID:28492532|PMID:29056246|PMID:29100083|PMID:29190809|PMID:29358611|PMID:29573403|PMID:29852413|PMID:30311386|PMID:30619928|PMID:31782251|PMID:31864146|PMID:32056211|PMID:32090326|PMID:32581362|PMID:35571373
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe	PMID:10521305|PMID:10742094|PMID:11567038|PMID:12086636|PMID:14702334|PMID:16326807|PMID:16525050|PMID:17054685|PMID:17347258|PMID:18076640|PMID:18804930|PMID:18930999|PMID:20301494|PMID:20522430|PMID:21248271|PMID:21864321|PMID:22848613|PMID:23195492|PMID:24277604|PMID:25348405|PMID:25576396|PMID:25741868|PMID:26990884|PMID:28084635|PMID:28150151|PMID:28192756|PMID:28488083|PMID:28492532|PMID:29655203|PMID:30619928|PMID:31054490|PMID:31487502|PMID:31780880|PMID:31782251|PMID:32090326|PMID:32538476|PMID:32581296|PMID:33391346|PMID:37524782|PMID:39202364
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe	PMID:10742094|PMID:11567038|PMID:12086636|PMID:14702334|PMID:16525050|PMID:17347258|PMID:18076640|PMID:18804930|PMID:18930999|PMID:20301494|PMID:20522430|PMID:21248271|PMID:21864321|PMID:22848613|PMID:23195492|PMID:24277604|PMID:25348405|PMID:25576396|PMID:25741868|PMID:26990884|PMID:28084635|PMID:28150151|PMID:28192756|PMID:28488083|PMID:28492532|PMID:29655203|PMID:30619928|PMID:31054490|PMID:31487502|PMID:31780880|PMID:31782251|PMID:32090326|PMID:32538476|PMID:32581296|PMID:33391346|PMID:37524782|PMID:39202364
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Early Myoclonic Encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe	PMID:10742094|PMID:11254445|PMID:11567038|PMID:12086636|PMID:12610651|PMID:14702334|PMID:16525050|PMID:17347258|PMID:18076640|PMID:18804930|PMID:18930999|PMID:19200853|PMID:19522081|PMID:20301494|PMID:20522430|PMID:21248271|PMID:21864321|PMID:22848613|PMID:23195492|PMID:24277604|PMID:25348405|PMID:25576396|PMID:25741868|PMID:26990884|PMID:28084635|PMID:28150151|PMID:28192756|PMID:28488083|PMID:28492532|PMID:29358611|PMID:29655203|PMID:30619928|PMID:31054490|PMID:31487502|PMID:31780880|PMID:31782251|PMID:32090326|PMID:32538476|PMID:32581296|PMID:33391346|PMID:37524782|PMID:39202364
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:735777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe	PMID:10742094|PMID:11254445|PMID:11422459|PMID:11567038|PMID:12083760|PMID:12086636|PMID:12610651|PMID:14702334|PMID:17347258|PMID:18076640|PMID:18755274|PMID:18804930|PMID:18930999|PMID:19200853|PMID:19522081|PMID:20301494|PMID:20522430|PMID:21248271|PMID:22092154|PMID:22848613|PMID:23195492|PMID:24412860|PMID:25525159|PMID:25741868|PMID:26990884|PMID:28084635|PMID:28192756|PMID:28488083|PMID:28492532|PMID:29358611|PMID:29655203|PMID:29852413|PMID:30619928|PMID:31054490|PMID:31440721|PMID:31487502|PMID:31755124|PMID:31780880|PMID:31864146|PMID:32090326|PMID:32538476|PMID:32581296|PMID:33278787|PMID:33391346|PMID:35074891|PMID:36684540|PMID:37524782|PMID:39202364
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:3329	benign epilepsy with centrotemporal spikes		ISO	RGD:735777	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Rolandic epilepsy	PMID:11254445|PMID:12610651|PMID:19200853|PMID:19522081|PMID:23195492|PMID:25741868|PMID:26990884|PMID:28492532|PMID:29358611
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:480	movement disease		ISO	RGD:735777	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12907273
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:735777	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:630	genetic disease		ISO	RGD:735777	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10742094|PMID:11254444|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12576172|PMID:12610651|PMID:14504318|PMID:14702334|PMID:15087100|PMID:16199547|PMID:16458823|PMID:16541393|PMID:17020904|PMID:17054684|PMID:17347258|PMID:17576681|PMID:18804930|PMID:18930999|PMID:19339291|PMID:19585586|PMID:20110217|PMID:20301494|PMID:20431604|PMID:20522430|PMID:21248271|PMID:22151702|PMID:23056405|PMID:23195492|PMID:23808377|PMID:24097157|PMID:24168886|PMID:24502503|PMID:24848745|PMID:25206388|PMID:25348405|PMID:25741868|PMID:25795284|PMID:26096185|PMID:26467025|PMID:26501104|PMID:26544041|PMID:27843123|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28183995|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28469861|PMID:28488083|PMID:28492532|PMID:28664031|PMID:28735751|PMID:29096607|PMID:29100083|PMID:29429461|PMID:29601086|PMID:29655203|PMID:29852413|PMID:30558019|PMID:31440721|PMID:31755124|PMID:31780880|PMID:31782251|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32090326|PMID:32276107|PMID:32347949|PMID:32613771|PMID:33895391|PMID:34145886|PMID:34926809|PMID:35074891|PMID:35087721|PMID:35571373|PMID:35696452|PMID:37524782|PMID:38438125|PMID:39181834|PMID:39202364|PMID:9536098
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:630	genetic disease		ISO	RGD:735777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10742094|PMID:11254444|PMID:11254445|PMID:11422459|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12576172|PMID:12610651|PMID:14702334|PMID:15087100|PMID:16199547|PMID:16458823|PMID:17054684|PMID:17347258|PMID:17576681|PMID:18755274|PMID:18804930|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19339291|PMID:19522081|PMID:19585586|PMID:19589774|PMID:20110217|PMID:20301494|PMID:20522430|PMID:20562086|PMID:20879882|PMID:21248271|PMID:21713554|PMID:22092154|PMID:22151702|PMID:23056405|PMID:23195492|PMID:23662938|PMID:23808377|PMID:24097157|PMID:24412860|PMID:24502503|PMID:24848745|PMID:25206388|PMID:25348405|PMID:25459968|PMID:25525159|PMID:25741868|PMID:25795284|PMID:26096185|PMID:26467025|PMID:26501104|PMID:26544041|PMID:26845707|PMID:26990884|PMID:27236449|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28183995|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28469861|PMID:28488083|PMID:28492532|PMID:28664031|PMID:28735751|PMID:29096607|PMID:29100083|PMID:29141279|PMID:29358611|PMID:29429461|PMID:29601086|PMID:29655203|PMID:29852413|PMID:30558019|PMID:30868114|PMID:31440721|PMID:31755124|PMID:31780880|PMID:31782251|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32090326|PMID:32276107|PMID:32613771|PMID:33278787|PMID:33895391|PMID:34145886|PMID:34926809|PMID:35072530|PMID:35074891|PMID:35087721|PMID:35571373|PMID:35696452|PMID:36684540|PMID:37524782|PMID:38081334|PMID:38438125|PMID:39181834|PMID:39202364|PMID:9536098
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:735777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized tonic-clonic seizures	
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:9001716	Hip Contracture		ISO	RGD:735777	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hip contracture	PMID:30311386
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:735777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment | ClinVar Annotator: match by term: Mental deterioration	
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:9002914	Familial Sudden Death		ISO	RGD:735777	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death in childhood	PMID:25741868
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:735777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:735777	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:29942082
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:735777	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myoclonic absence seizure | ClinVar Annotator: match by term: myoclonic epilepsy	PMID:17347258|PMID:20431604|PMID:23195492|PMID:23808377|PMID:24168886|PMID:24328833|PMID:25741868|PMID:25885068|PMID:26096185|PMID:27113213|PMID:27236449|PMID:28492532
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:735777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:17347258|PMID:20431604|PMID:23195492|PMID:23808377|PMID:24168886|PMID:24328833|PMID:25741868|PMID:25885068|PMID:26096185|PMID:27113213|PMID:27236449|PMID:28492532
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:9005616	Micrognathism		ISO	RGD:735777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28492532
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:735777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:17054684|PMID:17347258|PMID:18930999|PMID:19589774|PMID:20562086|PMID:23662938|PMID:25459968|PMID:25741868|PMID:28012175|PMID:28492532|PMID:29141279|PMID:29655203|PMID:30868114|PMID:31440721|PMID:32613771|PMID:35072530|PMID:38081334
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:9006942	Familial Febrile Seizures 3A		ISO	RGD:735777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Febrile seizures, familial, 3a	PMID:15805193|PMID:17054684|PMID:17347258|PMID:18930999|PMID:19589774|PMID:20562086|PMID:22188362|PMID:22292851|PMID:22591328|PMID:22992668|PMID:23662938|PMID:25459968|PMID:25741868|PMID:26314341|PMID:26555147|PMID:28012175|PMID:28492532|PMID:29141279|PMID:30868114|PMID:31440721|PMID:32613771|PMID:35072530|PMID:38081334
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:735777	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME	PMID:25741868|PMID:29601086
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:9007956	Febrile Seizures		ISO	RGD:735777	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Complex febrile seizure | ClinVar Annotator: match by term: Febrile seizures	PMID:11940708|PMID:12083760|PMID:16458823|PMID:17347258|PMID:18804930|PMID:18930999|PMID:20522430|PMID:21248271|PMID:22151702|PMID:23195492|PMID:23808377|PMID:25741868|PMID:26096185|PMID:26467025|PMID:26544041|PMID:28079314|PMID:28387369|PMID:28492532|PMID:29100083|PMID:31864146|PMID:32056211|PMID:32090326|PMID:35571373
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:9007956	Febrile Seizures	susceptibility	ISO	RGD:69364	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.E539A,p.N1417H(rat)	PMID:20410126|REF_RGD_ID:12792282
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:735777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11940708|PMID:12083760|PMID:16458823|PMID:17054684|PMID:17347258|PMID:17576681|PMID:18804930|PMID:18930999|PMID:19589774|PMID:20431604|PMID:20522430|PMID:20562086|PMID:21248271|PMID:22151702|PMID:23195492|PMID:23662938|PMID:23808377|PMID:23821540|PMID:25459968|PMID:25741868|PMID:26096185|PMID:26467025|PMID:26501104|PMID:26544041|PMID:27465585|PMID:28012175|PMID:28079314|PMID:28387369|PMID:28492532|PMID:29100083|PMID:29141279|PMID:30868114|PMID:31440721|PMID:31864146|PMID:32056211|PMID:32090326|PMID:32613771|PMID:33067208|PMID:33278787|PMID:35072530|PMID:35571373|PMID:38081334|PMID:38250573|PMID:9536098
8796089	Scn1a	sodium voltage-gated channel alpha subunit 1	gene	DOID:936	brain disease		ISO	RGD:735777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:17347258|PMID:18930999|PMID:25741868|PMID:28202706|PMID:28492532
8796131	Med7	mediator complex subunit 7	gene	DOID:3275	thymoma		ISO	RGD:1321085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8796143	Klhl25	kelch like family member 25	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796143	Klhl25	kelch like family member 25	gene	DOID:10534	stomach cancer		ISO	RGD:1605054	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8796143	Klhl25	kelch like family member 25	gene	DOID:1909	melanoma		ISO	RGD:1605054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8796143	Klhl25	kelch like family member 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796143	Klhl25	kelch like family member 25	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8796179	Ptrh2	peptidyl-tRNA hydrolase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796179	Ptrh2	peptidyl-tRNA hydrolase 2	gene	DOID:630	genetic disease		ISO	RGD:1602115	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8796179	Ptrh2	peptidyl-tRNA hydrolase 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1602115	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
8796179	Ptrh2	peptidyl-tRNA hydrolase 2	gene	DOID:9005516	Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1		ISO	RGD:1602115	D	RGD:7240710	20180130	OMIM			
8796179	Ptrh2	peptidyl-tRNA hydrolase 2	gene	DOID:9005516	Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1		ISO	RGD:1602115	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 1 | ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | ClinVar Annotator: match by term: PTRH2-related condition | ClinVar Annotator: match by term: neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1	PMID:25741868|PMID:28492532
8796179	Ptrh2	peptidyl-tRNA hydrolase 2	gene	DOID:9006461	Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease		ISO	RGD:1602115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	
8796179	Ptrh2	peptidyl-tRNA hydrolase 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1602115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
8796179	Ptrh2	peptidyl-tRNA hydrolase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8796185	Mllt10	MLLT10 histone lysine methyltransferase DOT1L cofactor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796185	Mllt10	MLLT10 histone lysine methyltransferase DOT1L cofactor	gene	DOID:10534	stomach cancer		ISO	RGD:1322026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8796185	Mllt10	MLLT10 histone lysine methyltransferase DOT1L cofactor	gene	DOID:1115	sarcoma		ISO	RGD:1322026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8796185	Mllt10	MLLT10 histone lysine methyltransferase DOT1L cofactor	gene	DOID:1324	lung cancer		ISO	RGD:1322026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8796185	Mllt10	MLLT10 histone lysine methyltransferase DOT1L cofactor	gene	DOID:1909	melanoma		ISO	RGD:1322026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8796185	Mllt10	MLLT10 histone lysine methyltransferase DOT1L cofactor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8796185	Mllt10	MLLT10 histone lysine methyltransferase DOT1L cofactor	gene	DOID:3565	meningioma		ISO	RGD:1322026	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21804547
8796185	Mllt10	MLLT10 histone lysine methyltransferase DOT1L cofactor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8796185	Mllt10	MLLT10 histone lysine methyltransferase DOT1L cofactor	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1322026	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23797736
8796185	Mllt10	MLLT10 histone lysine methyltransferase DOT1L cofactor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796185	Mllt10	MLLT10 histone lysine methyltransferase DOT1L cofactor	gene	DOID:8864	acute monocytic leukemia		ISO	RGD:1322026	D	RGD:9068941	20200609	RGD			PMID:7662954|REF_RGD_ID:1598771
8796185	Mllt10	MLLT10 histone lysine methyltransferase DOT1L cofactor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8796185	Mllt10	MLLT10 histone lysine methyltransferase DOT1L cofactor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8796185	Mllt10	MLLT10 histone lysine methyltransferase DOT1L cofactor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322026	D	RGD:7240710	20190315	OMIM			
8796185	Mllt10	MLLT10 histone lysine methyltransferase DOT1L cofactor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322026	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:0051064	left ventricular failure		ISO	RGD:732660	D	RGD:9068941	20230608	CTD		CTD Direct Evidence: marker/mechanism	PMID:36462176
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:732660	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:29940770|REF_RGD_ID:14985218
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:10283	prostate cancer		ISO	RGD:732660	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:10283	prostate cancer		ISO	RGD:732660	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:10534	stomach cancer		ISO	RGD:732660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732660	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15750215
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:1115	sarcoma		ISO	RGD:732660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:12217	Lewy body dementia		ISO	RGD:732660	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276553
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:12932	endomyocardial fibrosis		ISO	RGD:732660	D	RGD:9068941	20230608	CTD		CTD Direct Evidence: marker/mechanism	PMID:30450786|PMID:36462176
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:1324	lung cancer		ISO	RGD:732660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:14330	Parkinson's disease		ISO	RGD:732660	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276553
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:1520	colon carcinoma		ISO	RGD:732660	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:29940770|REF_RGD_ID:14985218
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:1909	melanoma		ISO	RGD:732660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:2154	nephroblastoma		ISO	RGD:732660	D	RGD:9068941	20200609	RGD			PMID:9070652|REF_RGD_ID:7242956
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:2661	myoepithelioma		ISO	RGD:732660	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:3275	thymoma		ISO	RGD:732660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:2871	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord, astrocyte	PMID:18441505|REF_RGD_ID:2311519
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:3459	breast carcinoma		ISO	RGD:732660	D	RGD:9068941	20200609	RGD		protein:increased expression:serum,urine:	PMID:29940770|REF_RGD_ID:14985218
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:732660	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20620343|PMID:21433279
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:2871	D	RGD:9068941	20200609	RGD		mRNA:deletions: :c.3698_4902del, c.3366_4902del, c.3817_4697del (rat)	PMID:12503077|REF_RGD_ID:1298968
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:4362	cervical cancer		ISO	RGD:732660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:732660	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:732660	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:5572	Beckwith-Wiedemann syndrome		ISO	RGD:732660	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome	PMID:25741868
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:732660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732660	D	RGD:7240710	20180130	OMIM			
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732660	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:732660	D	RGD:9068941	20200609	RGD		DNA:loss of heterozygosity:liver	PMID:18322954|REF_RGD_ID:14985219
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:684	hepatocellular carcinoma	no_association	ISO	RGD:732660	D	RGD:9068941	20200609	RGD		DNA:loss of heterozygosity,mutations:liver:	PMID:10347113|REF_RGD_ID:14985220
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:732660	D	RGD:9068941	20200609	RGD			PMID:30720132|REF_RGD_ID:14985221
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:850	lung disease		ISO	RGD:732660	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20620343|PMID:21433279
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:8719	in situ carcinoma		ISO	RGD:732660	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;DNA:loss of heterozygosity, missense mutations (human)	PMID:8649861|REF_RGD_ID:2311631
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:8791	breast carcinoma in situ		ISO	RGD:732660	D	RGD:9068941	20200609	RGD		DNA:loss of heterozygosity	PMID:8649861|REF_RGD_ID:2311631
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:9000040	Hypertrophy		ISO	RGD:732660	D	RGD:9068941	20250508	CTD		CTD Direct Evidence: marker/mechanism	PMID:39109785
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:732660	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:2871	D	RGD:9068941	20200609	RGD			PMID:15057872|PMID:9652747|REF_RGD_ID:2311623|REF_RGD_ID:2311630
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:2871	D	RGD:9068941	20200609	RGD		mRNA:increased expresssion:fetus:	PMID:1408464|REF_RGD_ID:14985247
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732660	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:732660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:732661	D	RGD:9068941	20200609	RGD		protein:increased expression:oviduct	PMID:18676006|REF_RGD_ID:2311502
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:9006487	Reoviridae Infections	resistance	ISO	RGD:2871	D	RGD:9068941	20200609	RGD			PMID:15333144|REF_RGD_ID:2311622
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:732660	D	RGD:9068941	20230608	CTD		CTD Direct Evidence: marker/mechanism	PMID:36462176
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:9007039	Ventricular Dysfunction		ISO	RGD:732660	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30450786
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:732660	D	RGD:9068941	20200609	RGD		DNA:insertion, deletion:3' utr (human)	PMID:16868148|REF_RGD_ID:2311514
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:9538	multiple myeloma		ISO	RGD:732660	D	RGD:9068941	20200609	RGD		protein:increased expression:serum,urine:	PMID:29940770|REF_RGD_ID:14985218
8796210	Igf2r	insulin like growth factor 2 receptor	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:732660	D	RGD:9068941	20200609	RGD		DNA:SNP (human)	PMID:15531531|REF_RGD_ID:2311611
8796263	Sc5d	sterol-C5-desaturase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8796263	Sc5d	sterol-C5-desaturase	gene	DOID:10534	stomach cancer		ISO	RGD:1351356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8796263	Sc5d	sterol-C5-desaturase	gene	DOID:1059	intellectual disability		ISO	RGD:1351356	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12189593
8796263	Sc5d	sterol-C5-desaturase	gene	DOID:1115	sarcoma		ISO	RGD:1351356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8796263	Sc5d	sterol-C5-desaturase	gene	DOID:1324	lung cancer		ISO	RGD:1351356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8796263	Sc5d	sterol-C5-desaturase	gene	DOID:13580	cholestasis		ISO	RGD:1351356	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: cholestasis	PMID:25741868
8796263	Sc5d	sterol-C5-desaturase	gene	DOID:409	liver disease		ISO	RGD:1351356	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12189593
8796263	Sc5d	sterol-C5-desaturase	gene	DOID:5041	esophageal cancer		ISO	RGD:1351356	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8796263	Sc5d	sterol-C5-desaturase	gene	DOID:630	genetic disease		ISO	RGD:1351356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8796263	Sc5d	sterol-C5-desaturase	gene	DOID:9001858	Lathosterolosis		ISO	RGD:1351356	D	RGD:7240710	20190315	OMIM			
8796263	Sc5d	sterol-C5-desaturase	gene	DOID:9001858	Lathosterolosis		ISO	RGD:1351356	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LATHOSTEROLOSIS | ClinVar Annotator: match by term: Lathosterolosis | ClinVar Annotator: match by term: SC5D-related condition | ClinVar Annotator: match by term: lathosterolosis	PMID:24142275|PMID:25741868|PMID:28492532
8796283	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796283	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:10534	stomach cancer		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8796283	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:1115	sarcoma		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8796283	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:1324	lung cancer		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8796283	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:1909	melanoma		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8796283	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:3275	thymoma		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8796283	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8796283	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8796283	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1318892	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8796283	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796283	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8796283	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8796283	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8796283	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8796283	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8796332	Trnau1ap	tRNA selenocysteine 1 associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8796332	Trnau1ap	tRNA selenocysteine 1 associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796332	Trnau1ap	tRNA selenocysteine 1 associated protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8796332	Trnau1ap	tRNA selenocysteine 1 associated protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8796332	Trnau1ap	tRNA selenocysteine 1 associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:733380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8796332	Trnau1ap	tRNA selenocysteine 1 associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796332	Trnau1ap	tRNA selenocysteine 1 associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8796371	Shisa4	shisa family member 4	gene	DOID:0060058	lymphoma		ISO	RGD:1323817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8796371	Shisa4	shisa family member 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8796371	Shisa4	shisa family member 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8796371	Shisa4	shisa family member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8796371	Shisa4	shisa family member 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1323817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8796380	Klhdc7a	kelch domain containing 7A	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1606164	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
8796399	Top3a	DNA topoisomerase III alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796399	Top3a	DNA topoisomerase III alpha	gene	DOID:0111524	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5		ISO	RGD:1319604	D	RGD:7240710	20190821	OMIM			
8796399	Top3a	DNA topoisomerase III alpha	gene	DOID:0111524	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5		ISO	RGD:1319604	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	PMID:25741868|PMID:28492532|PMID:29290614|PMID:30057030|PMID:37013609
8796399	Top3a	DNA topoisomerase III alpha	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1319604	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
8796399	Top3a	DNA topoisomerase III alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8796399	Top3a	DNA topoisomerase III alpha	gene	DOID:1115	sarcoma		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8796399	Top3a	DNA topoisomerase III alpha	gene	DOID:1909	melanoma		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8796399	Top3a	DNA topoisomerase III alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8796399	Top3a	DNA topoisomerase III alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1319604	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8796399	Top3a	DNA topoisomerase III alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796399	Top3a	DNA topoisomerase III alpha	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8796399	Top3a	DNA topoisomerase III alpha	gene	DOID:630	genetic disease		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8796399	Top3a	DNA topoisomerase III alpha	gene	DOID:9003566	Mesothelioma		ISO	RGD:1319604	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8796399	Top3a	DNA topoisomerase III alpha	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	PMID:24509834|PMID:25741868|PMID:37013609
8796399	Top3a	DNA topoisomerase III alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8796399	Top3a	DNA topoisomerase III alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8796399	Top3a	DNA topoisomerase III alpha	gene	DOID:9009217	Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2		ISO	RGD:1319604	D	RGD:7240710	20190315	OMIM			
8796399	Top3a	DNA topoisomerase III alpha	gene	DOID:9009217	Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 | ClinVar Annotator: match by term: Microcephaly, growth restriction, and increased sister chromatid exchange 2 | ClinVar Annotator: match by term: TOP3A-related condition	PMID:25741868|PMID:28492532|PMID:30057030|PMID:37013609
8796425	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796425	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:10534	stomach cancer		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8796425	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8796425	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:1115	sarcoma		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8796425	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:1324	lung cancer		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8796425	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:14250	Down syndrome		ISO	RGD:1318653	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebellum (human)	PMID:9328467|REF_RGD_ID:5143983
8796425	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8796425	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:3070	high grade glioma		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8796425	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1318653	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8796425	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:4297	scimitar syndrome		ISO	RGD:1318653	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: total anomalous pulmonary venous return	PMID:32641753
8796425	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796425	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:6039	uveal melanoma		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8796425	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8796425	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8796425	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1318653	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23897011
8796425	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1318653	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8796425	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8796425	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8796425	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8796460	Far1	fatty acyl-CoA reductase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796460	Far1	fatty acyl-CoA reductase 1	gene	DOID:0070309	absence epilepsy		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868|PMID:28492532|PMID:33239752
8796460	Far1	fatty acyl-CoA reductase 1	gene	DOID:0081243	rhizomelic chondrodysplasia punctate type 4		ISO	RGD:1315381	D	RGD:7240710	20200603	OMIM			
8796460	Far1	fatty acyl-CoA reductase 1	gene	DOID:0081243	rhizomelic chondrodysplasia punctate type 4		ISO	RGD:1315381	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER	
8796460	Far1	fatty acyl-CoA reductase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8796460	Far1	fatty acyl-CoA reductase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8796460	Far1	fatty acyl-CoA reductase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8796460	Far1	fatty acyl-CoA reductase 1	gene	DOID:1324	lung cancer		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8796460	Far1	fatty acyl-CoA reductase 1	gene	DOID:1826	epilepsy		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:33239752
8796460	Far1	fatty acyl-CoA reductase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315381	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8796460	Far1	fatty acyl-CoA reductase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796460	Far1	fatty acyl-CoA reductase 1	gene	DOID:630	genetic disease		ISO	RGD:1315381	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8796460	Far1	fatty acyl-CoA reductase 1	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:25741868|PMID:33239752
8796460	Far1	fatty acyl-CoA reductase 1	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic gait	PMID:25741868|PMID:28492532|PMID:33239752
8796460	Far1	fatty acyl-CoA reductase 1	gene	DOID:9006244	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY		ISO	RGD:1315381	D	RGD:7240710	20210616	OMIM			
8796460	Far1	fatty acyl-CoA reductase 1	gene	DOID:9006244	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY		ISO	RGD:1315381	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FAR1-related condition	PMID:25741868|PMID:28492532
8796460	Far1	fatty acyl-CoA reductase 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532|PMID:33239752
8796460	Far1	fatty acyl-CoA reductase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:735648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia	PMID:17332249|PMID:17517660|PMID:18375819|PMID:19681119|PMID:19775298|PMID:23487764|PMID:23634996|PMID:24332040|PMID:24436047|PMID:24705254|PMID:24803665|PMID:25741868|PMID:25768946|PMID:26037647|PMID:2680062|PMID:27276561|PMID:27288520|PMID:27993330|PMID:28152414|PMID:28492532|PMID:28966033|PMID:2989702|PMID:31412876|PMID:31681616|PMID:34166060|PMID:34525976|PMID:35101336|PMID:36130886|PMID:36699461|PMID:37872685|PMID:38212634|PMID:39273062
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0050523	adult T-cell leukemia/lymphoma	disease_progression	ISO	RGD:11018	D	RGD:9068941	20200609	RGD			PMID:21586752|REF_RGD_ID:11535055
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0050908	myelodysplastic syndrome	disease_progression	ISO	RGD:735648	D	RGD:9068941	20200609	RGD			PMID:23708912|REF_RGD_ID:11535060
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0060058	lymphoma		ISO	RGD:735648	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9205081
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:735648	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26285909
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0060578	Noonan syndrome 1		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Noonan syndrome 1	PMID:17671181|PMID:19966803|PMID:21263000|PMID:22220252|PMID:22887781|PMID:23325582|PMID:23708912|PMID:24806883|PMID:25741868|PMID:26467218|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28492532|PMID:28594414|PMID:29692343
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0060584	Noonan syndrome 6		ISO	RGD:735648	D	RGD:7240710	20180130	OMIM			
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0060584	Noonan syndrome 6		ISO	RGD:735648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NOONAN SYNDROME 6 | ClinVar Annotator: match by term: Noonan syndrome 6	PMID:12727991|PMID:12788883|PMID:14508525|PMID:16281072|PMID:16434186|PMID:16434492|PMID:1654209|PMID:16818621|PMID:17332249|PMID:17517660|PMID:17671181|PMID:18375819|PMID:19075190|PMID:19681119|PMID:19773259|PMID:19775298|PMID:19808697|PMID:19880792|PMID:19966803|PMID:20371679|PMID:2056968|PMID:21263000|PMID:22220252|PMID:22499344|PMID:22589270|PMID:22650231|PMID:22683711|PMID:22773810|PMID:22855653|PMID:22887781|PMID:22976956|PMID:23325582|PMID:23334668|PMID:23487764|PMID:23634996|PMID:23667841|PMID:23708912|PMID:24033266|PMID:24332040|PMID:24436047|PMID:24452629|PMID:24705254|PMID:24803665|PMID:24806883|PMID:24820091|PMID:24896186|PMID:25252692|PMID:25741868|PMID:25768946|PMID:25795251|PMID:26037647|PMID:26467218|PMID:26566875|PMID:26661077|PMID:26727948|PMID:2680062|PMID:2691018|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27145535|PMID:27276561|PMID:27288520|PMID:27391150|PMID:27494611|PMID:27664710|PMID:27993330|PMID:28152414|PMID:28492532|PMID:28537899|PMID:28594414|PMID:28864536|PMID:28966033|PMID:29397482|PMID:29692343|PMID:29720485|PMID:29726952|PMID:29752777|PMID:2989702|PMID:29967352|PMID:30232126|PMID:30287508|PMID:30417923|PMID:3043178|PMID:30542204|PMID:30992690|PMID:31077238|PMID:31219622|PMID:31412876|PMID:31681616|PMID:31768065|PMID:32581362|PMID:32601132|PMID:32852896|PMID:32888943|PMID:34117033|PMID:34166060|PMID:34525976|PMID:35101336|PMID:35202574|PMID:35246606|PMID:35391614|PMID:3540608|PMID:35705558|PMID:35705560|PMID:35944066|PMID:36130886|PMID:36699461|PMID:37872685|PMID:38212634|PMID:38736183|PMID:39273062|PMID:39434542|PMID:39572526|PMID:6587382|PMID:9219684
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0070004	myeloid neoplasm	disease_progression	ISO	RGD:11018	D	RGD:9068941	20200609	RGD			PMID:21586752|REF_RGD_ID:11535055
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0080188	chronic myelomonocytic leukemia	onset	ISO	RGD:11018	D	RGD:9068941	20200609	RGD			PMID:26082490|REF_RGD_ID:11535058
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:735648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27M-mutant	PMID:12727991|PMID:12788883|PMID:14508525|PMID:16281072|PMID:16434492|PMID:1654209|PMID:16818621|PMID:19075190|PMID:19681119|PMID:19773259|PMID:19808697|PMID:19880792|PMID:19966803|PMID:21263000|PMID:22499344|PMID:22589270|PMID:22650231|PMID:22773810|PMID:22976956|PMID:23667841|PMID:24033266|PMID:24332040|PMID:24436047|PMID:24452629|PMID:24705254|PMID:24820091|PMID:24896186|PMID:25252692|PMID:25741868|PMID:25768946|PMID:26727948|PMID:2680062|PMID:27145535|PMID:27391150|PMID:27494611|PMID:27664710|PMID:27993330|PMID:28537899|PMID:28864536|PMID:28966033|PMID:29397482|PMID:29726952|PMID:29967352|PMID:30232126|PMID:30287508|PMID:30542204|PMID:30992690|PMID:31077238|PMID:32852896|PMID:34117033|PMID:34166060|PMID:35101336|PMID:35246606|PMID:35391614|PMID:35705558|PMID:35705560|PMID:35944066|PMID:39434542|PMID:39572526|PMID:6587382
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0080690	RASopathy		ISO	RGD:735648	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:10598665|PMID:10821536|PMID:12460918|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:17332249|PMID:17384584|PMID:17576681|PMID:17671181|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:2278970|PMID:22855653|PMID:23325582|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24033266|PMID:24148783|PMID:24284627|PMID:24671188|PMID:24806883|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26467218|PMID:26619011|PMID:26661077|PMID:2674680|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:29692343|PMID:3122217|PMID:8120410|PMID:9536098
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0080690	RASopathy		ISO	RGD:735648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies	PMID:16434492|PMID:17332249|PMID:17517660|PMID:17576681|PMID:17671181|PMID:18375819|PMID:19681119|PMID:19775298|PMID:19966803|PMID:21263000|PMID:22220252|PMID:22855653|PMID:22887781|PMID:23325582|PMID:23487764|PMID:23634996|PMID:23708912|PMID:24033266|PMID:24332040|PMID:24436047|PMID:24705254|PMID:24803665|PMID:24806883|PMID:25741868|PMID:25768946|PMID:26037647|PMID:26467218|PMID:26661077|PMID:2680062|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:27288520|PMID:27993330|PMID:28152414|PMID:28492532|PMID:28594414|PMID:28966033|PMID:29692343|PMID:2989702|PMID:31412876|PMID:31681616|PMID:32620824|PMID:34117033|PMID:34166060|PMID:34525976|PMID:35101336|PMID:36130886|PMID:36699461|PMID:37872685|PMID:38212634|PMID:39273062|PMID:9536098
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0080707	medulloblastoma non-WNT/non-SHH group 3		ISO	RGD:735648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 3	PMID:16434186|PMID:19681119|PMID:19775298|PMID:20371679|PMID:2056968|PMID:24332040|PMID:24436047|PMID:25741868|PMID:25768946|PMID:2680062|PMID:2691018|PMID:27993330|PMID:34166060|PMID:38736183|PMID:9219684
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0080798	myeloid leukemia associated with Down Syndrome		ISO	RGD:735648	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome	PMID:17332249|PMID:17517660|PMID:18375819|PMID:19681119|PMID:19775298|PMID:23487764|PMID:23634996|PMID:24332040|PMID:24436047|PMID:24705254|PMID:24803665|PMID:25741868|PMID:25768946|PMID:26037647|PMID:2680062|PMID:27276561|PMID:27288520|PMID:27993330|PMID:28152414|PMID:28492532|PMID:28966033|PMID:2989702|PMID:31412876|PMID:31681616|PMID:34166060|PMID:34525976|PMID:35101336|PMID:36130886|PMID:36699461|PMID:37872685|PMID:38212634|PMID:39273062
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:735648	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:17332249|PMID:17517660|PMID:18375819|PMID:19681119|PMID:19775298|PMID:23487764|PMID:23634996|PMID:24332040|PMID:24436047|PMID:24705254|PMID:24803665|PMID:25741868|PMID:25768946|PMID:26037647|PMID:2680062|PMID:27276561|PMID:27288520|PMID:27993330|PMID:28152414|PMID:28492532|PMID:28966033|PMID:2989702|PMID:31412876|PMID:31681616|PMID:34166060|PMID:34525976|PMID:35101336|PMID:36130886|PMID:36699461|PMID:37872685|PMID:38212634|PMID:39273062
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0110117	autoimmune lymphoproliferative syndrome type 4		ISO	RGD:735648	D	RGD:7240710	20180130	OMIM			
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0110117	autoimmune lymphoproliferative syndrome type 4		ISO	RGD:735648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 4	PMID:17332249|PMID:17517660|PMID:18375819|PMID:19681119|PMID:19775298|PMID:23487764|PMID:23634996|PMID:24332040|PMID:24436047|PMID:24705254|PMID:24803665|PMID:25741868|PMID:25768946|PMID:26037647|PMID:2680062|PMID:27276561|PMID:27288520|PMID:27993330|PMID:28152414|PMID:28492532|PMID:28966033|PMID:2989702|PMID:31412876|PMID:31681616|PMID:34166060|PMID:34525976|PMID:35101336|PMID:36130886|PMID:36699461|PMID:37872685|PMID:38212634|PMID:39273062
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0111162	epidermal nevus		ISO	RGD:735648	D	RGD:7240710	20180130	OMIM			
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0111162	epidermal nevus		ISO	RGD:735648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epidermal nevus	PMID:12727991|PMID:12788883|PMID:14508525|PMID:16281072|PMID:16434492|PMID:1654209|PMID:16818621|PMID:19075190|PMID:19681119|PMID:19773259|PMID:19808697|PMID:19880792|PMID:19966803|PMID:21263000|PMID:22499344|PMID:22589270|PMID:22650231|PMID:22773810|PMID:22976956|PMID:23667841|PMID:24033266|PMID:24332040|PMID:24436047|PMID:24452629|PMID:24705254|PMID:24820091|PMID:24896186|PMID:25252692|PMID:25741868|PMID:25768946|PMID:26727948|PMID:2680062|PMID:27145535|PMID:27391150|PMID:27494611|PMID:27664710|PMID:27993330|PMID:28537899|PMID:28864536|PMID:28966033|PMID:29397482|PMID:29726952|PMID:29967352|PMID:30232126|PMID:30287508|PMID:30542204|PMID:30992690|PMID:31077238|PMID:32852896|PMID:34117033|PMID:34166060|PMID:35101336|PMID:35246606|PMID:35391614|PMID:35705558|PMID:35705560|PMID:35944066|PMID:39434542|PMID:39572526|PMID:6587382
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0111359	large congenital melanocytic nevus		ISO	RGD:735648	D	RGD:7240710	20180130	OMIM			
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0111359	large congenital melanocytic nevus		ISO	RGD:735648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus	PMID:12727991|PMID:12788883|PMID:14508525|PMID:16281072|PMID:16434492|PMID:1654209|PMID:16818621|PMID:19075190|PMID:19681119|PMID:19773259|PMID:19808697|PMID:19880792|PMID:19966803|PMID:21263000|PMID:22499344|PMID:22589270|PMID:22650231|PMID:22683711|PMID:22773810|PMID:22976956|PMID:23667841|PMID:24033266|PMID:24332040|PMID:24436047|PMID:24452629|PMID:24705254|PMID:24820091|PMID:24896186|PMID:25252692|PMID:25741868|PMID:25768946|PMID:25795251|PMID:26727948|PMID:2680062|PMID:27145535|PMID:27391150|PMID:27494611|PMID:27664710|PMID:27993330|PMID:28537899|PMID:28864536|PMID:28966033|PMID:29397482|PMID:29726952|PMID:29967352|PMID:30232126|PMID:30287508|PMID:30542204|PMID:30992690|PMID:31077238|PMID:32852896|PMID:34117033|PMID:34166060|PMID:35101336|PMID:35246606|PMID:35391614|PMID:35705558|PMID:35705560|PMID:35944066|PMID:39434542|PMID:39572526|PMID:6587382
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0111530	linear nevus sebaceous syndrome		ISO	RGD:735648	D	RGD:7240710	20180130	OMIM			
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:0111530	linear nevus sebaceous syndrome		ISO	RGD:735648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Linear nevus sebaceous	PMID:12727991|PMID:12788883|PMID:14508525|PMID:16281072|PMID:16434492|PMID:1654209|PMID:16818621|PMID:19075190|PMID:19681119|PMID:19773259|PMID:19808697|PMID:19880792|PMID:19966803|PMID:21263000|PMID:22499344|PMID:22589270|PMID:22650231|PMID:22683711|PMID:22773810|PMID:22976956|PMID:23667841|PMID:24033266|PMID:24332040|PMID:24436047|PMID:24452629|PMID:24705254|PMID:24820091|PMID:24896186|PMID:25252692|PMID:25741868|PMID:25768946|PMID:25795251|PMID:26727948|PMID:2680062|PMID:27145535|PMID:27391150|PMID:27494611|PMID:27664710|PMID:27993330|PMID:28537899|PMID:28864536|PMID:28966033|PMID:29397482|PMID:29726952|PMID:29967352|PMID:30232126|PMID:30287508|PMID:30542204|PMID:30992690|PMID:31077238|PMID:32852896|PMID:34117033|PMID:34166060|PMID:35101336|PMID:35246606|PMID:35391614|PMID:35705558|PMID:35705560|PMID:35944066|PMID:39434542|PMID:39572526|PMID:6587382
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:735648	D	RGD:9068941	20200609	RGD			PMID:18334737|REF_RGD_ID:2314837
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:10534	stomach cancer		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:1240	leukemia	onset	ISO	RGD:11018	D	RGD:9068941	20200609	RGD			PMID:27109513|REF_RGD_ID:11535059
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:1324	lung cancer		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:735648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:12727991|PMID:12788883|PMID:14508525|PMID:16281072|PMID:16434492|PMID:1654209|PMID:16818621|PMID:17332249|PMID:17517660|PMID:18375819|PMID:19075190|PMID:19681119|PMID:19773259|PMID:19775298|PMID:19808697|PMID:19880792|PMID:19966803|PMID:21263000|PMID:22499344|PMID:22589270|PMID:22650231|PMID:22773810|PMID:22976956|PMID:23103856|PMID:23487764|PMID:23634996|PMID:23667841|PMID:24033266|PMID:24332040|PMID:24436047|PMID:24452629|PMID:24705254|PMID:24803665|PMID:24820091|PMID:24896186|PMID:25252692|PMID:25741868|PMID:25768946|PMID:26037647|PMID:26727948|PMID:2680062|PMID:27145535|PMID:27276561|PMID:27288520|PMID:27391150|PMID:27494611|PMID:27664710|PMID:27993330|PMID:28152414|PMID:28492532|PMID:28537899|PMID:28864536|PMID:28966033|PMID:29397482|PMID:29726952|PMID:2989702|PMID:29967352|PMID:30232126|PMID:30287508|PMID:30542204|PMID:30992690|PMID:31077238|PMID:31412876|PMID:31681616|PMID:32852896|PMID:34117033|PMID:34166060|PMID:34525976|PMID:35101336|PMID:35246606|PMID:35391614|PMID:35705558|PMID:35705560|PMID:35944066|PMID:36130886|PMID:36699461|PMID:37872685|PMID:38212634|PMID:39273062|PMID:39434542|PMID:39572526|PMID:6587382
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:1475	lymphangioma		ISO	RGD:735648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphangioma	PMID:12727991|PMID:12788883|PMID:14508525|PMID:16281072|PMID:16434492|PMID:1654209|PMID:16818621|PMID:19075190|PMID:19681119|PMID:19773259|PMID:19808697|PMID:19880792|PMID:19966803|PMID:21263000|PMID:22499344|PMID:22589270|PMID:22650231|PMID:22773810|PMID:22976956|PMID:23667841|PMID:24033266|PMID:24332040|PMID:24436047|PMID:24452629|PMID:24705254|PMID:24820091|PMID:24896186|PMID:25252692|PMID:25741868|PMID:25768946|PMID:26727948|PMID:2680062|PMID:27145535|PMID:27391150|PMID:27494611|PMID:27664710|PMID:27993330|PMID:28537899|PMID:28864536|PMID:28966033|PMID:29397482|PMID:29726952|PMID:29967352|PMID:30232126|PMID:30287508|PMID:30542204|PMID:30992690|PMID:31077238|PMID:32852896|PMID:34117033|PMID:34166060|PMID:35101336|PMID:35246606|PMID:35391614|PMID:35705558|PMID:35705560|PMID:35944066|PMID:39434542|PMID:39572526|PMID:6587382
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:1826	epilepsy		ISO	RGD:735648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:1909	melanoma		ISO	RGD:735648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CDKN2A-related disorder | ClinVar Annotator: match by term: Melanoma	PMID:12727991|PMID:12788883|PMID:14508525|PMID:16281072|PMID:16434492|PMID:1654209|PMID:16818621|PMID:17332249|PMID:17517660|PMID:18375819|PMID:19075190|PMID:19681119|PMID:19773259|PMID:19775298|PMID:19808697|PMID:19880792|PMID:19966803|PMID:21263000|PMID:22499344|PMID:22589270|PMID:22650231|PMID:22773810|PMID:22976956|PMID:23487764|PMID:23634996|PMID:23667841|PMID:24033266|PMID:24332040|PMID:24436047|PMID:24452629|PMID:24705254|PMID:24803665|PMID:24820091|PMID:24896186|PMID:25252692|PMID:25741868|PMID:25768946|PMID:26037647|PMID:26727948|PMID:2680062|PMID:27145535|PMID:27276561|PMID:27288520|PMID:27391150|PMID:27494611|PMID:27664710|PMID:27993330|PMID:28152414|PMID:28492532|PMID:28537899|PMID:28864536|PMID:28966033|PMID:29397482|PMID:29726952|PMID:2989702|PMID:29967352|PMID:30232126|PMID:30287508|PMID:30542204|PMID:30992690|PMID:31077238|PMID:31412876|PMID:31681616|PMID:32852896|PMID:34117033|PMID:34166060|PMID:34525976|PMID:35101336|PMID:35246606|PMID:35391614|PMID:35705558|PMID:35705560|PMID:35944066|PMID:36130886|PMID:36699461|PMID:37872685|PMID:38212634|PMID:39273062|PMID:39434542|PMID:39572526|PMID:6587382
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:1984	rectal benign neoplasm		ISO	RGD:735648	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3102434
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:1993	rectum cancer		ISO	RGD:735648	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Malignant tumor of rectum	PMID:19681119|PMID:22683711|PMID:24332040|PMID:24436047|PMID:25741868|PMID:25768946|PMID:25795251|PMID:2680062|PMID:27993330|PMID:34166060|PMID:39434542
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:2234	focal epilepsy		ISO	RGD:735648	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:29493581
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:2355	anemia		ISO	RGD:735648	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:32581362
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:735648	D	RGD:9068941	20250109	RGD		mRNA:increased expression:urinary bladder	PMID:19303097|REF_RGD_ID:2314836
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:3068	glioblastoma		ISO	RGD:735648	D	RGD:9068941	20250109	RGD		DNA:amplication::	PMID:11351043|REF_RGD_ID:13702876
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:3068	glioblastoma		ISO	RGD:735648	D	RGD:9068941	20250109	RGD		DNA:mutation:cds:c.35G>A, p.G12D(human)	PMID:15517309|REF_RGD_ID:13702875
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:735648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma	PMID:12727991|PMID:12788883|PMID:14508525|PMID:16281072|PMID:16434186|PMID:16434492|PMID:1654209|PMID:16818621|PMID:17332249|PMID:17517660|PMID:18375819|PMID:19075190|PMID:19681119|PMID:19773259|PMID:19775298|PMID:19808697|PMID:19880792|PMID:19966803|PMID:20371679|PMID:2056968|PMID:21263000|PMID:22499344|PMID:22589270|PMID:22650231|PMID:22773810|PMID:22976956|PMID:23487764|PMID:23634996|PMID:23667841|PMID:24033266|PMID:24332040|PMID:24436047|PMID:24452629|PMID:24705254|PMID:24803665|PMID:24820091|PMID:24896186|PMID:25252692|PMID:25741868|PMID:25768946|PMID:26037647|PMID:26727948|PMID:2680062|PMID:2691018|PMID:27145535|PMID:27276561|PMID:27288520|PMID:27391150|PMID:27494611|PMID:27664710|PMID:27993330|PMID:28152414|PMID:28492532|PMID:28537899|PMID:28864536|PMID:28966033|PMID:29397482|PMID:29726952|PMID:2989702|PMID:29967352|PMID:30232126|PMID:30287508|PMID:30542204|PMID:30992690|PMID:31077238|PMID:31412876|PMID:31681616|PMID:32852896|PMID:34117033|PMID:34166060|PMID:34525976|PMID:35101336|PMID:35246606|PMID:35391614|PMID:35705558|PMID:35705560|PMID:35944066|PMID:36130886|PMID:36699461|PMID:37872685|PMID:38212634|PMID:38736183|PMID:39273062|PMID:39434542|PMID:39572526|PMID:6587382|PMID:9219684
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:735648	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma	PMID:10574788|PMID:16291983|PMID:19681119|PMID:20147967|PMID:20194776|PMID:22683711|PMID:22817889|PMID:23103856|PMID:24332040|PMID:24436047|PMID:25741868|PMID:25768946|PMID:25795251|PMID:26037647|PMID:26091043|PMID:2680062|PMID:27993330|PMID:28467829|PMID:30181563|PMID:30201956|PMID:34166060|PMID:34755412|PMID:3510078|PMID:35101336|PMID:35121978|PMID:35944066|PMID:36098958|PMID:39434542|PMID:9219684
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:3304	germinoma		ISO	RGD:735648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Germinoma	PMID:12727991|PMID:12788883|PMID:14508525|PMID:16281072|PMID:16434492|PMID:1654209|PMID:16818621|PMID:19075190|PMID:19681119|PMID:19773259|PMID:19808697|PMID:19880792|PMID:19966803|PMID:21263000|PMID:22499344|PMID:22589270|PMID:22650231|PMID:22773810|PMID:22976956|PMID:23667841|PMID:24033266|PMID:24332040|PMID:24436047|PMID:24452629|PMID:24705254|PMID:24820091|PMID:24896186|PMID:25252692|PMID:25741868|PMID:25768946|PMID:26727948|PMID:2680062|PMID:27145535|PMID:27391150|PMID:27494611|PMID:27664710|PMID:27993330|PMID:28537899|PMID:28864536|PMID:28966033|PMID:29397482|PMID:29726952|PMID:29967352|PMID:30232126|PMID:30287508|PMID:30542204|PMID:30992690|PMID:31077238|PMID:32852896|PMID:34117033|PMID:34166060|PMID:35101336|PMID:35246606|PMID:35391614|PMID:35705558|PMID:35705560|PMID:35944066|PMID:39434542|PMID:39572526|PMID:6587382
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:3490	Noonan syndrome		ISO	RGD:735648	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome	PMID:10598665|PMID:12460918|PMID:14982869|PMID:15046639|PMID:15831708|PMID:16273091|PMID:16291983|PMID:16518851|PMID:17384584|PMID:17671181|PMID:17699718|PMID:18390968|PMID:18794081|PMID:18952898|PMID:19047918|PMID:19657110|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21263000|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22220252|PMID:22855653|PMID:23325582|PMID:23414587|PMID:23708912|PMID:24033266|PMID:24806883|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28492532|PMID:28594414|PMID:29692343|PMID:29752777|PMID:31219622|PMID:32581362|PMID:8120410
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:3490	Noonan syndrome		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome	PMID:17671181|PMID:19966803|PMID:21263000|PMID:22220252|PMID:22887781|PMID:23325582|PMID:23708912|PMID:24806883|PMID:25741868|PMID:26467218|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28492532|PMID:28594414|PMID:29692343
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:3512	neurofibrosarcoma		ISO	RGD:735648	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16239399
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:735648	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach	PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:735648	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach	PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17671181|PMID:17699718|PMID:17823240|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21163920|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23325582|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:24806883|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27276561|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:29692343|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:33681212|PMID:36130886|PMID:6587382|PMID:8120410
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:735648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Non-small cell lung carcinoma	PMID:12727991|PMID:12788883|PMID:14508525|PMID:16281072|PMID:16434492|PMID:1654209|PMID:16818621|PMID:19075190|PMID:19681119|PMID:19773259|PMID:19808697|PMID:19880792|PMID:19966803|PMID:21263000|PMID:22499344|PMID:22589270|PMID:22650231|PMID:22773810|PMID:22976956|PMID:23667841|PMID:24033266|PMID:24332040|PMID:24436047|PMID:24452629|PMID:24705254|PMID:24820091|PMID:24896186|PMID:25252692|PMID:25741868|PMID:25768946|PMID:26727948|PMID:2680062|PMID:27145535|PMID:27391150|PMID:27494611|PMID:27664710|PMID:27993330|PMID:28537899|PMID:28864536|PMID:28966033|PMID:29397482|PMID:29726952|PMID:29967352|PMID:30232126|PMID:30287508|PMID:30542204|PMID:30992690|PMID:31077238|PMID:32852896|PMID:34117033|PMID:34166060|PMID:35101336|PMID:35246606|PMID:35391614|PMID:35705558|PMID:35705560|PMID:35944066|PMID:39434542|PMID:39572526|PMID:6587382
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:3962	follicular thyroid carcinoma		ISO	RGD:735648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Follicular thyroid carcinoma	PMID:12727991|PMID:12788883|PMID:14508525|PMID:16281072|PMID:16434492|PMID:1654209|PMID:16818621|PMID:19075190|PMID:19681119|PMID:19773259|PMID:19808697|PMID:19880792|PMID:19966803|PMID:21263000|PMID:22499344|PMID:22589270|PMID:22650231|PMID:22773810|PMID:22976956|PMID:23667841|PMID:24033266|PMID:24332040|PMID:24436047|PMID:24452629|PMID:24705254|PMID:24820091|PMID:24896186|PMID:25252692|PMID:25741868|PMID:25768946|PMID:26727948|PMID:2680062|PMID:27145535|PMID:27391150|PMID:27494611|PMID:27664710|PMID:27993330|PMID:28537899|PMID:28864536|PMID:28966033|PMID:29397482|PMID:29726952|PMID:29967352|PMID:30232126|PMID:30287508|PMID:30542204|PMID:30992690|PMID:31077238|PMID:32852896|PMID:34117033|PMID:34166060|PMID:35101336|PMID:35246606|PMID:35391614|PMID:35705558|PMID:35705560|PMID:35944066|PMID:39434542|PMID:39572526|PMID:6587382
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:4362	cervical cancer		ISO	RGD:735648	D	RGD:9068941	20200609	RGD		mRNA:increased expression:uterine cervix	PMID:14984964|REF_RGD_ID:2314838
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:480	movement disease		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:6688	autoimmune lymphoproliferative syndrome		ISO	RGD:735648	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17517660
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:732909	D	RGD:9068941	20200609	RGD		human gene in mouse model	PMID:21993994|REF_RGD_ID:14696775
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:735648	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver (mouse, human)	PMID:30685691|REF_RGD_ID:14696793
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:686	liver carcinoma		ISO	RGD:735648	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:3018923|REF_RGD_ID:14975106
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:707	B-cell lymphoma		ISO	RGD:735648	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14633661
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:769	neuroblastoma		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuroblastoma	PMID:23334666|PMID:26121087|PMID:26821351|PMID:27993330|PMID:27997549|PMID:35689207
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:8488	polyhydramnios		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:23334668|PMID:25741868|PMID:28594414|PMID:30417923|PMID:32888943
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:865	vasculitis		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasculitis	PMID:25741868|PMID:28492532|PMID:34117033
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9001039	Leukocytosis		ISO	RGD:735648	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leukocytosis	PMID:19681119|PMID:24332040|PMID:24436047|PMID:25768946|PMID:26037647|PMID:2680062|PMID:27993330|PMID:34166060|PMID:35101336|PMID:6092966
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:735648	D	RGD:9068941	20200609	RGD		human gene in mouse model	PMID:16286660|REF_RGD_ID:14975105
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9001866	Pyogenic Granuloma		ISO	RGD:735648	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Pyogenic granuloma	PMID:25741868
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9001904	Sinus Histiocytosis		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sinus histiocytosis with massive lymphadenopathy	PMID:25741868|PMID:26566875|PMID:27993330|PMID:28594414|PMID:29720485|PMID:3043178|PMID:31768065|PMID:32581362|PMID:32601132|PMID:35202574|PMID:3540608
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:735648	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9205081
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:3205	D	RGD:9068941	20200609	RGD			PMID:18706093|REF_RGD_ID:2300006
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9002650	Sebaceous Nevus Syndrome and Hemimegalencephaly		ISO	RGD:735648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly	PMID:12727991|PMID:12788883|PMID:14508525|PMID:16281072|PMID:16434492|PMID:1654209|PMID:16818621|PMID:19075190|PMID:19681119|PMID:19773259|PMID:19808697|PMID:19880792|PMID:19966803|PMID:21263000|PMID:22499344|PMID:22589270|PMID:22650231|PMID:22683711|PMID:22773810|PMID:22976956|PMID:23667841|PMID:24033266|PMID:24332040|PMID:24436047|PMID:24452629|PMID:24705254|PMID:24820091|PMID:24896186|PMID:25252692|PMID:25741868|PMID:25768946|PMID:25795251|PMID:26727948|PMID:2680062|PMID:27145535|PMID:27391150|PMID:27494611|PMID:27664710|PMID:27993330|PMID:28537899|PMID:28864536|PMID:28966033|PMID:29397482|PMID:29726952|PMID:29967352|PMID:30232126|PMID:30287508|PMID:30542204|PMID:30992690|PMID:31077238|PMID:32852896|PMID:34117033|PMID:34166060|PMID:35101336|PMID:35246606|PMID:35391614|PMID:35705558|PMID:35705560|PMID:35944066|PMID:39434542|PMID:39572526|PMID:6587382
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9002720	Splenomegaly		ISO	RGD:735648	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27725143
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intracranial hemorrhage	PMID:23334668|PMID:25741868|PMID:28594414|PMID:30417923|PMID:32888943
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9003191	Vascular Malformations		ISO	RGD:735648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vascular malformations	PMID:12727991|PMID:12788883|PMID:14508525|PMID:16281072|PMID:16434492|PMID:1654209|PMID:16818621|PMID:19075190|PMID:19681119|PMID:19773259|PMID:19808697|PMID:19880792|PMID:19966803|PMID:21263000|PMID:22499344|PMID:22589270|PMID:22650231|PMID:22773810|PMID:22976956|PMID:23667841|PMID:24033266|PMID:24332040|PMID:24436047|PMID:24452629|PMID:24705254|PMID:24820091|PMID:24896186|PMID:25252692|PMID:25741868|PMID:25768946|PMID:26727948|PMID:2680062|PMID:27145535|PMID:27391150|PMID:27494611|PMID:27664710|PMID:27993330|PMID:28537899|PMID:28864536|PMID:28966033|PMID:29397482|PMID:29726952|PMID:29967352|PMID:30232126|PMID:30287508|PMID:30542204|PMID:30992690|PMID:31077238|PMID:32852896|PMID:34117033|PMID:34166060|PMID:35101336|PMID:35246606|PMID:35391614|PMID:35705558|PMID:35705560|PMID:35944066|PMID:39434542|PMID:39572526|PMID:6587382
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9003507	Premature Birth		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9003816	Macrocephaly		ISO	RGD:735648	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:17332249|PMID:17517660|PMID:18375819|PMID:19681119|PMID:19775298|PMID:23334668|PMID:23487764|PMID:23634996|PMID:24332040|PMID:24436047|PMID:24705254|PMID:24803665|PMID:25741868|PMID:25768946|PMID:26037647|PMID:2680062|PMID:27276561|PMID:27288520|PMID:27993330|PMID:28152414|PMID:28492532|PMID:28594414|PMID:28966033|PMID:2989702|PMID:30417923|PMID:31412876|PMID:31681616|PMID:32888943|PMID:34166060|PMID:34525976|PMID:35101336|PMID:36130886|PMID:36699461|PMID:37872685|PMID:38212634|PMID:39273062
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:735648	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9004441	Experimental Leukemia	induces	ISO	RGD:3205	D	RGD:9068941	20200609	RGD		DNA:transversion mutation, loss of heterozygosity:cds:	PMID:9142215|REF_RGD_ID:11535063
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9004672	Neurocutaneous Melanosis		ISO	RGD:735648	D	RGD:7240710	20180130	OMIM			
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9004672	Neurocutaneous Melanosis		ISO	RGD:735648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEUROMELANOSIS	PMID:12727991|PMID:12788883|PMID:14508525|PMID:16281072|PMID:16434492|PMID:1654209|PMID:16818621|PMID:19075190|PMID:19681119|PMID:19773259|PMID:19808697|PMID:19880792|PMID:19966803|PMID:21263000|PMID:22499344|PMID:22589270|PMID:22650231|PMID:22773810|PMID:22976956|PMID:23667841|PMID:24033266|PMID:24332040|PMID:24436047|PMID:24452629|PMID:24705254|PMID:24820091|PMID:24896186|PMID:25252692|PMID:25741868|PMID:25768946|PMID:26727948|PMID:2680062|PMID:27145535|PMID:27391150|PMID:27494611|PMID:27664710|PMID:27993330|PMID:28537899|PMID:28864536|PMID:28966033|PMID:29397482|PMID:29726952|PMID:29967352|PMID:30232126|PMID:30287508|PMID:30542204|PMID:30992690|PMID:31077238|PMID:32852896|PMID:34117033|PMID:34166060|PMID:35101336|PMID:35246606|PMID:35391614|PMID:35705558|PMID:35705560|PMID:35944066|PMID:39434542|PMID:39572526|PMID:6587382
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9005062	Prostate Cancer, Hereditary, 1		ISO	RGD:735648	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Prostate cancer, hereditary, 1	
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9005474	Experimental Sarcoma		ISO	RGD:3205	D	RGD:9068941	20200609	RGD		DNA:transversion:exon p.Q61L (human)	PMID:11295286|REF_RGD_ID:1598680
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9006494	Follicular Thyroid Cancer		ISO	RGD:735648	D	RGD:7240710	20180130	OMIM			
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9006494	Follicular Thyroid Cancer		ISO	RGD:735648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2	PMID:12727991|PMID:12788883|PMID:14508525|PMID:16281072|PMID:16434492|PMID:1654209|PMID:16818621|PMID:19075190|PMID:19681119|PMID:19773259|PMID:19808697|PMID:19880792|PMID:19966803|PMID:21263000|PMID:22499344|PMID:22589270|PMID:22650231|PMID:22773810|PMID:22976956|PMID:23667841|PMID:24033266|PMID:24332040|PMID:24436047|PMID:24452629|PMID:24705254|PMID:24820091|PMID:24896186|PMID:25252692|PMID:25741868|PMID:25768946|PMID:26727948|PMID:2680062|PMID:27145535|PMID:27391150|PMID:27494611|PMID:27664710|PMID:27993330|PMID:28537899|PMID:28864536|PMID:28966033|PMID:29397482|PMID:29726952|PMID:29967352|PMID:30232126|PMID:30287508|PMID:30542204|PMID:30992690|PMID:31077238|PMID:32852896|PMID:34117033|PMID:34166060|PMID:35101336|PMID:35246606|PMID:35391614|PMID:35705558|PMID:35705560|PMID:35944066|PMID:39434542|PMID:39572526|PMID:6587382
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9006618	Liver Metastasis		ISO	RGD:735648	D	RGD:9068941	20200609	RGD		human gene in a mouse model;DNA:missense mutations:cds:p.G12V, p.Q61K (human)	PMID:26799184|REF_RGD_ID:14696774
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9006618	Liver Metastasis	susceptibility	ISO	RGD:735648	D	RGD:9068941	20200609	RGD		associated with colorectal cancer;DNA:mutations:exons (human)	PMID:28011498|REF_RGD_ID:14696792
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9006618	Liver Metastasis	susceptibility	ISO	RGD:735648	D	RGD:9068941	20200609	RGD		associated with melanoma;DNA:mutations: exons (human)	PMID:28787433|REF_RGD_ID:14696791
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9007364	Mouth Neoplasms	disease_progression	ISO	RGD:3205	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:17708355|REF_RGD_ID:2303822
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:735648	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Brain Neoplasms	PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:735648	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:23334668|PMID:25741868|PMID:28594414|PMID:30417923|PMID:32888943
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735648	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult	PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735648	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:17332249|PMID:17517660|PMID:18375819|PMID:19681119|PMID:19775298|PMID:22683711|PMID:23487764|PMID:23634996|PMID:24332040|PMID:24436047|PMID:24705254|PMID:24803665|PMID:25741868|PMID:25768946|PMID:25795251|PMID:26037647|PMID:2680062|PMID:27276561|PMID:27288520|PMID:27993330|PMID:28152414|PMID:28492532|PMID:28966033|PMID:2989702|PMID:31412876|PMID:31681616|PMID:34166060|PMID:34525976|PMID:35101336|PMID:36130886|PMID:36699461|PMID:37872685|PMID:38212634|PMID:39273062|PMID:39434542
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:11018	D	RGD:9068941	20200609	RGD			PMID:18952898|REF_RGD_ID:11070616
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:735648	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:	PMID:25204082|REF_RGD_ID:11535045
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9256	colorectal cancer		ISO	RGD:735648	D	RGD:7240710	20200226	OMIM			
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9256	colorectal cancer		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:12788883|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15517309|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16096402|PMID:16434492|PMID:16462768|PMID:16518851|PMID:1654209|PMID:16818621|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17671181|PMID:17823240|PMID:18375819|PMID:18633438|PMID:18668139|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19681119|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20194776|PMID:20301303|PMID:20736745|PMID:2105846|PMID:21079152|PMID:21163920|PMID:21263000|PMID:21305640|PMID:21478863|PMID:21586752|PMID:21850009|PMID:22220252|PMID:22499344|PMID:22589270|PMID:22614978|PMID:22650231|PMID:22718121|PMID:22773810|PMID:2278970|PMID:23303902|PMID:23325582|PMID:23334666|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23487764|PMID:23634996|PMID:23708912|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24224811|PMID:24284627|PMID:24332040|PMID:24436047|PMID:24452629|PMID:24641407|PMID:24671188|PMID:24705254|PMID:24803665|PMID:24806883|PMID:24820091|PMID:24896186|PMID:25252692|PMID:25256166|PMID:25339142|PMID:25348872|PMID:25534128|PMID:25695684|PMID:25741868|PMID:25768946|PMID:25796376|PMID:26037647|PMID:26121087|PMID:26138366|PMID:26619011|PMID:26727948|PMID:2674680|PMID:2680062|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27251789|PMID:27276561|PMID:27288520|PMID:27391150|PMID:27494611|PMID:27664710|PMID:27993330|PMID:27997549|PMID:28098151|PMID:28152414|PMID:28186096|PMID:28492532|PMID:28537899|PMID:28594414|PMID:28668077|PMID:28717400|PMID:28780248|PMID:28797232|PMID:28864536|PMID:28966033|PMID:29118384|PMID:29156659|PMID:29692343|PMID:29726952|PMID:2989702|PMID:29967352|PMID:30287508|PMID:30523111|PMID:31077238|PMID:3122217|PMID:31412876|PMID:31681616|PMID:31900433|PMID:32004563|PMID:32100585|PMID:32888943|PMID:33056981|PMID:33431353|PMID:33681212|PMID:34117033|PMID:34135599|PMID:34166060|PMID:34525976|PMID:3510078|PMID:35101336|PMID:35391614|PMID:3550423|PMID:35672316|PMID:35689207|PMID:35705558|PMID:35705560|PMID:35944066|PMID:36130886|PMID:36699461|PMID:37872685|PMID:38212634|PMID:39273062|PMID:39434542|PMID:6330729|PMID:6587382
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9256	colorectal cancer		ISO	RGD:735648	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:12788883|PMID:14508525|PMID:15517309|PMID:15899789|PMID:15951308|PMID:16096402|PMID:16281072|PMID:16434492|PMID:16462768|PMID:16518851|PMID:1654209|PMID:16818621|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17671181|PMID:17823240|PMID:18375819|PMID:18668139|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19681119|PMID:19773259|PMID:19775298|PMID:19808697|PMID:19880792|PMID:19966803|PMID:20194776|PMID:20301303|PMID:20736745|PMID:2105846|PMID:21163920|PMID:21263000|PMID:21305640|PMID:21586752|PMID:21850009|PMID:22220252|PMID:22499344|PMID:22589270|PMID:22614978|PMID:22650231|PMID:22718121|PMID:22773810|PMID:2278970|PMID:22976956|PMID:23303902|PMID:23325582|PMID:23334666|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23487764|PMID:23634996|PMID:23667841|PMID:23708912|PMID:24033266|PMID:24148783|PMID:24224811|PMID:24332040|PMID:24436047|PMID:24452629|PMID:24641407|PMID:24671188|PMID:24705254|PMID:24803665|PMID:24806883|PMID:24820091|PMID:24896186|PMID:25252692|PMID:25256166|PMID:25339142|PMID:25348872|PMID:25534128|PMID:25695684|PMID:25741868|PMID:25768946|PMID:25796376|PMID:26037647|PMID:26121087|PMID:26138366|PMID:26727948|PMID:2674680|PMID:2680062|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27145535|PMID:27251789|PMID:27276561|PMID:27288520|PMID:27391150|PMID:27494611|PMID:27664710|PMID:27993330|PMID:27997549|PMID:28098151|PMID:28152414|PMID:28186096|PMID:28492532|PMID:28537899|PMID:28594414|PMID:28668077|PMID:28717400|PMID:28780248|PMID:28797232|PMID:28864536|PMID:28966033|PMID:29118384|PMID:29156659|PMID:29397482|PMID:29692343|PMID:29726952|PMID:2989702|PMID:29967352|PMID:30232126|PMID:30287508|PMID:30523111|PMID:30542204|PMID:30992690|PMID:31077238|PMID:3122217|PMID:31412876|PMID:31681616|PMID:31900433|PMID:32004563|PMID:32100585|PMID:32852896|PMID:32888943|PMID:33056981|PMID:33431353|PMID:33681212|PMID:34117033|PMID:34135599|PMID:34166060|PMID:34525976|PMID:3510078|PMID:35101336|PMID:35246606|PMID:35391614|PMID:35672316|PMID:35689207|PMID:35705558|PMID:35705560|PMID:35944066|PMID:36130886|PMID:36699461|PMID:37872685|PMID:38212634|PMID:39273062|PMID:39434542|PMID:39572526|PMID:6330729|PMID:6587382
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:936	brain disease		ISO	RGD:735648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9446	cholangitis		ISO	RGD:735648	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cd4-positive helper T cells (human)	PMID:30690835|REF_RGD_ID:14975104
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9538	multiple myeloma		ISO	RGD:735648	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis	PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17671181|PMID:17699718|PMID:17823240|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21163920|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23325582|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:24806883|PMID:25073507|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27276561|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:29692343|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:33681212|PMID:36130886|PMID:6587382|PMID:8120410
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9538	multiple myeloma	treatment	ISO	RGD:735648	D	RGD:9068941	20200609	RGD		DNA:mutation: :	PMID:24335104|REF_RGD_ID:11535049
8796510	Nras	NRAS proto-oncogene, GTPase	gene	DOID:9952	acute lymphoblastic leukemia	disease_progression	ISO	RGD:735648	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:	PMID:25204082|REF_RGD_ID:11535045
8796521	Tomm22	translocase of outer mitochondrial membrane 22	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796521	Tomm22	translocase of outer mitochondrial membrane 22	gene	DOID:1115	sarcoma		ISO	RGD:1342792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8796521	Tomm22	translocase of outer mitochondrial membrane 22	gene	DOID:5041	esophageal cancer		ISO	RGD:1342792	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8796521	Tomm22	translocase of outer mitochondrial membrane 22	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8796521	Tomm22	translocase of outer mitochondrial membrane 22	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8796542	Ca7	carbonic anhydrase 7	gene	DOID:1909	melanoma		ISO	RGD:1315686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8796542	Ca7	carbonic anhydrase 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8796556	Rac1	Rac family small GTPase 1	gene	DOID:0050861	colorectal adenocarcinoma	disease_progression	ISO	RGD:1605432	D	RGD:9068941	20220922	RGD		mRNA, protein:increased expression:colorectum (human)	PMID:30926638|REF_RGD_ID:155230818
8796556	Rac1	Rac family small GTPase 1	gene	DOID:0050912	colon adenoma		ISO	RGD:1605432	D	RGD:9068941	20200609	RGD			PMID:12865273|REF_RGD_ID:13432048
8796556	Rac1	Rac family small GTPase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796556	Rac1	Rac family small GTPase 1	gene	DOID:0051064	left ventricular failure		ISO	RGD:1605432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28710503
8796556	Rac1	Rac family small GTPase 1	gene	DOID:0060249	scoliosis		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
8796556	Rac1	Rac family small GTPase 1	gene	DOID:0080199	colorectal carcinoma	ameliorates	ISO	RGD:1605432	D	RGD:9068941	20220908	RGD		human cell line in a mouse model	PMID:23559092|REF_RGD_ID:153350124
8796556	Rac1	Rac family small GTPase 1	gene	DOID:0080199	colorectal carcinoma	exacerbates	ISO	RGD:1605432	D	RGD:9068941	20220804	RGD		protein:increased expression:colorectum (human)	PMID:30064309|REF_RGD_ID:153298972
8796556	Rac1	Rac family small GTPase 1	gene	DOID:0080199	colorectal carcinoma	exacerbates	ISO	RGD:1605432	D	RGD:9068941	20220909	RGD		protein:increased activity:colorectal mucosa (human)	PMID:25529012|REF_RGD_ID:153350139
8796556	Rac1	Rac family small GTPase 1	gene	DOID:0080235	autosomal dominant intellectual developmental disorder 48		ISO	RGD:1605432	D	RGD:7240710	20190315	OMIM			
8796556	Rac1	Rac family small GTPase 1	gene	DOID:0080235	autosomal dominant intellectual developmental disorder 48		ISO	RGD:1605432	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: RAC1-related condition	PMID:25741868|PMID:28492532
8796556	Rac1	Rac family small GTPase 1	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:22588877|PMID:26619011|PMID:27993330|PMID:28115009|PMID:29489754
8796556	Rac1	Rac family small GTPase 1	gene	DOID:0080833	laryngomalacia		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
8796556	Rac1	Rac family small GTPase 1	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	
8796556	Rac1	Rac family small GTPase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8796556	Rac1	Rac family small GTPase 1	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1605432	D	RGD:9068941	20220908	RGD		protein:increased expression:mucosa of stomach (human)	PMID:23298303|REF_RGD_ID:153350128
8796556	Rac1	Rac family small GTPase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8796556	Rac1	Rac family small GTPase 1	gene	DOID:10608	celiac disease		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Celiac disease	PMID:25741868
8796556	Rac1	Rac family small GTPase 1	gene	DOID:1115	sarcoma		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8796556	Rac1	Rac family small GTPase 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unilateral cryptorchidism	PMID:25741868
8796556	Rac1	Rac family small GTPase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
8796556	Rac1	Rac family small GTPase 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16155095
8796556	Rac1	Rac family small GTPase 1	gene	DOID:1324	lung cancer	treatment	ISO	RGD:1605432	D	RGD:9068941	20220922	RGD		DNA:SNPs:enhancers, intron: (rs836554, rs4720672, rs12536544) (human)	PMID:27299748|REF_RGD_ID:155230814
8796556	Rac1	Rac family small GTPase 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25056119|PMID:29533785|PMID:35101336
8796556	Rac1	Rac family small GTPase 1	gene	DOID:1612	breast cancer		ISO	RGD:1605432	D	RGD:9068941	20220922	RGD		protein:increased expression:breast (human)	PMID:22345078|REF_RGD_ID:155230815
8796556	Rac1	Rac family small GTPase 1	gene	DOID:1612	breast cancer	exacerbates	ISO	RGD:1605432	D	RGD:9068941	20220818	RGD		protein:increased expression:breast (human)	PMID:25557791|REF_RGD_ID:153323321
8796556	Rac1	Rac family small GTPase 1	gene	DOID:1909	melanoma		ISO	RGD:1605432	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:22842228
8796556	Rac1	Rac family small GTPase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605432	D	RGD:9068941	20200609	RGD		mRNA:alternative form	PMID:10597294|REF_RGD_ID:13432049
8796556	Rac1	Rac family small GTPase 1	gene	DOID:234	colon adenocarcinoma	treatment	ISO	RGD:1605432	D	RGD:9068941	20200609	RGD			PMID:19561401|REF_RGD_ID:13432051
8796556	Rac1	Rac family small GTPase 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	
8796556	Rac1	Rac family small GTPase 1	gene	DOID:3304	germinoma		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germinoma	PMID:27993330|PMID:32721511
8796556	Rac1	Rac family small GTPase 1	gene	DOID:3495	extrahepatic bile duct adenocarcinoma		ISO	RGD:1605432	D	RGD:9068941	20220908	RGD		protein:increased expression:mucosa (human)	PMID:21537609|REF_RGD_ID:153350126
8796556	Rac1	Rac family small GTPase 1	gene	DOID:3498	pancreatic ductal adenocarcinoma		ISO	RGD:1553531	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:pancreas (mouse)	PMID:21684285|REF_RGD_ID:14392816
8796556	Rac1	Rac family small GTPase 1	gene	DOID:3498	pancreatic ductal adenocarcinoma		ISO	RGD:1605432	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas (human)	PMID:23334332|REF_RGD_ID:14392806
8796556	Rac1	Rac family small GTPase 1	gene	DOID:3717	gastric adenocarcinoma	exacerbates	ISO	RGD:1605432	D	RGD:9068941	20220811	RGD		protein:increased expression:stomach (human)	PMID:23485997|REF_RGD_ID:153300951
8796556	Rac1	Rac family small GTPase 1	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1316840	D	RGD:9068941	20220908	RGD			PMID:32366477|REF_RGD_ID:153345550
8796556	Rac1	Rac family small GTPase 1	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1605432	D	RGD:9068941	20220707	RGD		mRNA:increased expression:lung (human)	PMID:31779616|REF_RGD_ID:152998910
8796556	Rac1	Rac family small GTPase 1	gene	DOID:4074	pancreatic adenocarcinoma	treatment	ISO	RGD:1605432	D	RGD:9068941	20200609	RGD		human cells in a mouse model	PMID:21037555|REF_RGD_ID:14392805
8796556	Rac1	Rac family small GTPase 1	gene	DOID:409	liver disease		ISO	RGD:1605432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17058265
8796556	Rac1	Rac family small GTPase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8796556	Rac1	Rac family small GTPase 1	gene	DOID:4948	gallbladder carcinoma	exacerbates	ISO	RGD:1605432	D	RGD:9068941	20220922	RGD		protein:increased expression:gallbladder (human)	PMID:21853342|REF_RGD_ID:155230819
8796556	Rac1	Rac family small GTPase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8796556	Rac1	Rac family small GTPase 1	gene	DOID:6000	congestive heart failure		ISO	RGD:1605432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16155095
8796556	Rac1	Rac family small GTPase 1	gene	DOID:6000	congestive heart failure		ISO	RGD:619755	D	RGD:9068941	20200609	RGD			PMID:12642504|REF_RGD_ID:1581295
8796556	Rac1	Rac family small GTPase 1	gene	DOID:630	genetic disease		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10462759|PMID:14676270|PMID:16549782|PMID:25741868|PMID:25741888|PMID:28886345|PMID:29330095
8796556	Rac1	Rac family small GTPase 1	gene	DOID:674	cleft palate		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
8796556	Rac1	Rac family small GTPase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8796556	Rac1	Rac family small GTPase 1	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1605432	D	RGD:9068941	20220804	RGD		mRNA:increased expression:liver (human)	PMID:33482578|REF_RGD_ID:153298967
8796556	Rac1	Rac family small GTPase 1	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1605432	D	RGD:9068941	20220908	RGD		protein:increased expression:liver (human)	PMID:20522449|REF_RGD_ID:153350129
8796556	Rac1	Rac family small GTPase 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1605432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18506888
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:1605432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28710503
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:25741868
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9003242	Paresthesia		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paresthesia	PMID:25741868
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9003591	Telecanthus		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1553531	D	RGD:9068941	20200609	RGD			PMID:16651530|PMID:16698001|REF_RGD_ID:1581293|REF_RGD_ID:1581294
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9004484	Sepsis		ISO	RGD:1605432	D	RGD:9068941	20220707	RGD		mRNA:increased expression:blood serum (human)	PMID:33174038|REF_RGD_ID:152998912
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:619755	D	RGD:9068941	20200609	RGD			PMID:12642504|REF_RGD_ID:1581295
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1605432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22011395
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605432	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:25741888|PMID:28886345
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1605432	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1605432	D	RGD:9068941	20200609	RGD			PMID:17597401|REF_RGD_ID:13432052
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9256	colorectal cancer	ameliorates	ISO	RGD:1605432	D	RGD:9068941	20220707	RGD		human cell line in a mouse model	PMID:29884911|REF_RGD_ID:152998911
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1605432	D	RGD:9068941	20200609	RGD		mRNA:alternative form	PMID:24833563|REF_RGD_ID:13432050
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9261	nasopharynx carcinoma	exacerbates	ISO	RGD:1605432	D	RGD:9068941	20220908	RGD		protein:increased expression:nasopharynx (human)	PMID:19506399|REF_RGD_ID:153350125
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9296	cleft lip		ISO	RGD:1605432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:25741868
8796556	Rac1	Rac family small GTPase 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:1605432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23723366
8796603	Adgrd1	adhesion G protein-coupled receptor D1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796603	Adgrd1	adhesion G protein-coupled receptor D1	gene	DOID:10534	stomach cancer		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8796603	Adgrd1	adhesion G protein-coupled receptor D1	gene	DOID:1115	sarcoma		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8796603	Adgrd1	adhesion G protein-coupled receptor D1	gene	DOID:1324	lung cancer		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8796603	Adgrd1	adhesion G protein-coupled receptor D1	gene	DOID:1909	melanoma		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8796603	Adgrd1	adhesion G protein-coupled receptor D1	gene	DOID:4362	cervical cancer		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8796603	Adgrd1	adhesion G protein-coupled receptor D1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8796603	Adgrd1	adhesion G protein-coupled receptor D1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8796603	Adgrd1	adhesion G protein-coupled receptor D1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8796603	Adgrd1	adhesion G protein-coupled receptor D1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796603	Adgrd1	adhesion G protein-coupled receptor D1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8796603	Adgrd1	adhesion G protein-coupled receptor D1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8796603	Adgrd1	adhesion G protein-coupled receptor D1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8796603	Adgrd1	adhesion G protein-coupled receptor D1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8796659	Vkorc1l1	vitamin K epoxide reductase complex subunit 1L1	gene	DOID:10283	prostate cancer		ISO	RGD:1353419	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8796665	Rnf24	ring finger protein 24	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8796665	Rnf24	ring finger protein 24	gene	DOID:3070	high grade glioma		ISO	RGD:1319703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8796665	Rnf24	ring finger protein 24	gene	DOID:5041	esophageal cancer		ISO	RGD:1319703	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8796665	Rnf24	ring finger protein 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796665	Rnf24	ring finger protein 24	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8796675	Spmip3	sperm microtubule inner protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796675	Spmip3	sperm microtubule inner protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1603542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8796675	Spmip3	sperm microtubule inner protein 3	gene	DOID:3275	thymoma		ISO	RGD:1603542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8796675	Spmip3	sperm microtubule inner protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1603542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8796704	Anxa2	annexin A2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8796704	Anxa2	annexin A2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796704	Anxa2	annexin A2	gene	DOID:0080600	COVID-19		ISO	RGD:736099	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8796704	Anxa2	annexin A2	gene	DOID:10159	osteonecrosis		ISO	RGD:736099	D	RGD:9068941	20200609	RGD			PMID:15784727|REF_RGD_ID:1578382
8796704	Anxa2	annexin A2	gene	DOID:10534	stomach cancer		ISO	RGD:736099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8796704	Anxa2	annexin A2	gene	DOID:1115	sarcoma		ISO	RGD:736099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8796704	Anxa2	annexin A2	gene	DOID:11476	osteoporosis		ISO	RGD:736099	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
8796704	Anxa2	annexin A2	gene	DOID:1350	paranasal sinus benign neoplasm	disease_progression	ISO	RGD:736099	D	RGD:9068941	20200609	RGD			PMID:20970165|REF_RGD_ID:7421559
8796704	Anxa2	annexin A2	gene	DOID:1459	hypothyroidism		ISO	RGD:621170	D	RGD:9068941	20200609	RGD		protein:increased expression:thyroid gland:	PMID:9022675|REF_RGD_ID:2306952
8796704	Anxa2	annexin A2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:736099	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
8796704	Anxa2	annexin A2	gene	DOID:1790	malignant mesothelioma		ISO	RGD:736099	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:20682992
8796704	Anxa2	annexin A2	gene	DOID:1909	melanoma		ISO	RGD:736099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8796704	Anxa2	annexin A2	gene	DOID:3008	invasive ductal carcinoma	treatment	ISO	RGD:736099	D	RGD:9068941	20200609	RGD			PMID:19171478|REF_RGD_ID:7421560
8796704	Anxa2	annexin A2	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:736099	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, altered localization:pancreas, plasma membrane	PMID:16450333|REF_RGD_ID:2325731
8796704	Anxa2	annexin A2	gene	DOID:3587	pancreatic ductal carcinoma	disease_progression	ISO	RGD:736099	D	RGD:9068941	20200609	RGD			PMID:19260470|REF_RGD_ID:2317307
8796704	Anxa2	annexin A2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:736099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8796704	Anxa2	annexin A2	gene	DOID:4362	cervical cancer		ISO	RGD:736099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8796704	Anxa2	annexin A2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:621170	D	RGD:9068941	20200609	RGD			PMID:14587099|REF_RGD_ID:7421570
8796704	Anxa2	annexin A2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8796704	Anxa2	annexin A2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8796704	Anxa2	annexin A2	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:736099	D	RGD:9068941	20200609	RGD			PMID:20493868|REF_RGD_ID:2325728
8796704	Anxa2	annexin A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796704	Anxa2	annexin A2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8796704	Anxa2	annexin A2	gene	DOID:7998	hyperthyroidism		ISO	RGD:621170	D	RGD:9068941	20200609	RGD		protein:decreased expression:thyroid gland:	PMID:9022675|REF_RGD_ID:2306952
8796704	Anxa2	annexin A2	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:621170	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:neuron,glial cell	PMID:15248295|REF_RGD_ID:10053688
8796704	Anxa2	annexin A2	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:736099	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22248470
8796704	Anxa2	annexin A2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736099	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8796704	Anxa2	annexin A2	gene	DOID:9002331	Knee Osteoarthritis	disease_progression	ISO	RGD:736099	D	RGD:9068941	20200609	RGD		protein:increased expression:chondrocyte:	PMID:10903884|REF_RGD_ID:10053727
8796704	Anxa2	annexin A2	gene	DOID:9002457	Experimental Arthritis	ameliorates	ISO	RGD:621170	D	RGD:9068941	20211015	RGD			PMID:24819400|REF_RGD_ID:150519886
8796704	Anxa2	annexin A2	gene	DOID:9002514	Neointima		ISO	RGD:736099	D	RGD:9068941	20241107	CTD		CTD Direct Evidence: marker/mechanism	PMID:21204247
8796704	Anxa2	annexin A2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:621170	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart:	PMID:10603972|REF_RGD_ID:10053694
8796704	Anxa2	annexin A2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:736099	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15654357
8796704	Anxa2	annexin A2	gene	DOID:9004657	Weight Gain		ISO	RGD:736099	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8796704	Anxa2	annexin A2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:736099	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20682992
8796704	Anxa2	annexin A2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:621170	D	RGD:9068941	20200609	RGD		protein:increased glycation:respiratory system blood vessel endothelium	PMID:11423489|REF_RGD_ID:2306888
8796704	Anxa2	annexin A2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8796704	Anxa2	annexin A2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:736099	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
8796704	Anxa2	annexin A2	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:736099	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
8796704	Anxa2	annexin A2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736099	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8796704	Anxa2	annexin A2	gene	DOID:9007417	Pseudomonas Infections	severity	ISO	RGD:731825	D	RGD:9068941	20200924	RGD			PMID:26371245|REF_RGD_ID:38676497
8796704	Anxa2	annexin A2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8796704	Anxa2	annexin A2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736099	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
8796704	Anxa2	annexin A2	gene	DOID:9256	colorectal cancer		ISO	RGD:736099	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
8796731	Rcn1	reticulocalbin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796731	Rcn1	reticulocalbin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8796731	Rcn1	reticulocalbin 1	gene	DOID:1324	lung cancer		ISO	RGD:1322672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8796731	Rcn1	reticulocalbin 1	gene	DOID:305	carcinoma		ISO	RGD:1322672	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8796731	Rcn1	reticulocalbin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8796731	Rcn1	reticulocalbin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796731	Rcn1	reticulocalbin 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1322672	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8796731	Rcn1	reticulocalbin 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322672	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8796731	Rcn1	reticulocalbin 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1322672	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8796731	Rcn1	reticulocalbin 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8796741	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8796741	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796741	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:10534	stomach cancer		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8796741	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8796741	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:1115	sarcoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8796741	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:1909	melanoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8796741	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:3070	high grade glioma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8796741	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8796741	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:4362	cervical cancer		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8796741	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1320938	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8796741	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8796741	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796741	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:6039	uveal melanoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8796741	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8796741	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8796741	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8796741	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8796741	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:9256	colorectal cancer		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8796778	Adgrf3	adhesion G protein-coupled receptor F3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8796778	Adgrf3	adhesion G protein-coupled receptor F3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796778	Adgrf3	adhesion G protein-coupled receptor F3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8796778	Adgrf3	adhesion G protein-coupled receptor F3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796778	Adgrf3	adhesion G protein-coupled receptor F3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8796778	Adgrf3	adhesion G protein-coupled receptor F3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8796808	Ell3	elongation factor for RNA polymerase II 3	gene	DOID:0060058	lymphoma		ISO	RGD:1320517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8796808	Ell3	elongation factor for RNA polymerase II 3	gene	DOID:1324	lung cancer		ISO	RGD:1320517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8796808	Ell3	elongation factor for RNA polymerase II 3	gene	DOID:1909	melanoma		ISO	RGD:1320517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8796808	Ell3	elongation factor for RNA polymerase II 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8796808	Ell3	elongation factor for RNA polymerase II 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8796808	Ell3	elongation factor for RNA polymerase II 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1320517	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8796808	Ell3	elongation factor for RNA polymerase II 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:0051064	left ventricular failure		ISO	RGD:737223	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: therapeutic	PMID:34310909
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:0081292	traumatic brain injury		ISO	RGD:3651	D	RGD:9068941	20230727	RGD		protein:increased expression:cerebral cortex	PMID:27614125|REF_RGD_ID:329961568
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:10283	prostate cancer	ameliorates	ISO	RGD:737223	D	RGD:9068941	20220429	RGD		human cells in mouse model	PMID:30537000|REF_RGD_ID:152025215
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:11664	nephrosclerosis		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30818366
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:11713	diabetic angiopathy	susceptibility	ISO	RGD:737223	D	RGD:9068941	20200609	RGD		associated with Diabetic Foot;DNA:polymorphism:3' utr (human)	PMID:16723689|REF_RGD_ID:2306558
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:12932	endomyocardial fibrosis		ISO	RGD:737223	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: therapeutic	PMID:34310909
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:1790	malignant mesothelioma		ISO	RGD:737223	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:1824	status epilepticus		ISO	RGD:3651	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:19054393|REF_RGD_ID:2306568
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:1909	melanoma		ISO	RGD:737223	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3651	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus:	PMID:24924806|REF_RGD_ID:11352662
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:2316	brain ischemia		ISO	RGD:3651	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain	PMID:18206136|REF_RGD_ID:2306577
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:2596	larynx cancer	exacerbates	ISO	RGD:737223	D	RGD:9068941	20220512	RGD		protein:increased expression: mucosa of larynx (human)	PMID:23259294|REF_RGD_ID:152177474
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:2723	dermatitis		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27206134
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:326	ischemia		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18227068
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:3393	coronary artery disease		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378990
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:3459	breast carcinoma	susceptibility	ISO	RGD:737223	D	RGD:9068941	20200609	RGD		DNA:polymorphism (human)	PMID:15978329|REF_RGD_ID:2317609
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:3892	insulinoma		ISO	RGD:737223	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:19013212|REF_RGD_ID:2317608
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737223	D	RGD:9068941	20230128	RGD		mRNA:decreased expression:kidney:	PMID:29218250|REF_RGD_ID:155804290
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:3651	D	RGD:9068941	20200609	RGD		mRNA:increased expression:glomerulus	PMID:17557270|REF_RGD_ID:2306579
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:737223	D	RGD:7240710	20230505	OMIM			
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:737223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CXCL12-related condition	PMID:25741868
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:5844	myocardial infarction		ISO	RGD:3651	D	RGD:9068941	20200609	RGD			PMID:19187644|REF_RGD_ID:2306567
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:5844	myocardial infarction		ISO	RGD:3651	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart left ventricle	PMID:11820456|REF_RGD_ID:632503
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19363144|PMID:28284560
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:824	periodontitis		ISO	RGD:737223	D	RGD:9068941	20200609	RGD			PMID:18454663|REF_RGD_ID:2306575
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:8947	diabetic retinopathy	severity	ISO	RGD:737223	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous humor	PMID:15630447|REF_RGD_ID:2306559
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:737223	D	RGD:9068941	20220422	RGD		associated with stomach cancer;mRNA:increased expression:stomach (human)	PMID:21633638|REF_RGD_ID:152023624
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9000641	Pain		ISO	RGD:3651	D	RGD:9068941	20200609	RGD			PMID:11438578|REF_RGD_ID:2306307
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9000656	Penetrating Wounds		ISO	RGD:11280	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus	PMID:17950070|REF_RGD_ID:2306556
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21312072|PMID:23743303
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:737223	D	RGD:9068941	20200609	RGD		associated with Pancreatic Neoplasms	PMID:12761880|REF_RGD_ID:2317610
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:737223	D	RGD:9068941	20200609	RGD		associated with Pancreatic Carcinoma	PMID:26330165|REF_RGD_ID:10398726
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20731768
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:737223	D	RGD:9068941	20200609	RGD		mRNA:increased expression:gingival tissues	PMID:21382035|REF_RGD_ID:6480655
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:3651	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:ligament	PMID:19327017|REF_RGD_ID:2306564
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9002138	Spinal Cord Reperfusion Injury		ISO	RGD:3651	D	RGD:9068941	20200609	RGD			PMID:27760212|REF_RGD_ID:12910551
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9002211	Hyperalgesia		ISO	RGD:3651	D	RGD:9068941	20200609	RGD			PMID:28638088|REF_RGD_ID:13838657
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17785557
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9002801	Recurrence		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22607768
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3651	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:18709383|REF_RGD_ID:2306570
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19700239|PMID:25231984|PMID:25753200
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9004994	Embryo Loss		ISO	RGD:11280	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent	PMID:18384776|REF_RGD_ID:2306554
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:11280	D	RGD:9068941	20200609	RGD			PMID:17878289|REF_RGD_ID:2306557
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3651	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:18201529|REF_RGD_ID:2306555
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9006618	Liver Metastasis	ameliorates	ISO	RGD:737223	D	RGD:9068941	20220421	RGD		associated with colorectal cancer; human cells in mouse model	PMID:30789971|REF_RGD_ID:151893289
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9008763	Femoral Fractures	treatment	ISO	RGD:3651	D	RGD:9068941	20200609	RGD			PMID:25181476|REF_RGD_ID:11352664
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18521742
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737223	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:18451752|REF_RGD_ID:2306553
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:11280	D	RGD:9068941	20200609	RGD			PMID:12383202|REF_RGD_ID:2306562
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9744	type 1 diabetes mellitus	no_association	ISO	RGD:737223	D	RGD:9068941	20200609	RGD		DNA:polymorphism:3' utr (human)	PMID:14679085|REF_RGD_ID:2306561
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9744	type 1 diabetes mellitus	onset	ISO	RGD:11280	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow	PMID:18793419|REF_RGD_ID:2301942
8796823	Cxcl12	C-X-C motif chemokine ligand 12	gene	DOID:9744	type 1 diabetes mellitus	onset	ISO	RGD:737223	D	RGD:9068941	20200609	RGD		DNA:polymorphism:3' utr (human)	PMID:11334429|PMID:14522095|REF_RGD_ID:2306560|REF_RGD_ID:2306563
8796837	Bcar3	BCAR3 adaptor protein, NSP family member	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:36174057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796837	Bcar3	BCAR3 adaptor protein, NSP family member	gene	DOID:1115	sarcoma		ISO	RGD:36174057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8796837	Bcar3	BCAR3 adaptor protein, NSP family member	gene	DOID:1324	lung cancer		ISO	RGD:36174057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8796837	Bcar3	BCAR3 adaptor protein, NSP family member	gene	DOID:1909	melanoma		ISO	RGD:36174057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8796837	Bcar3	BCAR3 adaptor protein, NSP family member	gene	DOID:303	substance-related disorder		ISO	RGD:36174057	D	RGD:9068941	20210129	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8796837	Bcar3	BCAR3 adaptor protein, NSP family member	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:36174057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796837	Bcar3	BCAR3 adaptor protein, NSP family member	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:36174057	D	RGD:9068941	20210129	CTD		CTD Direct Evidence: marker/mechanism	PMID:19075277
8796837	Bcar3	BCAR3 adaptor protein, NSP family member	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:36174057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8796890	Znf821	zinc finger protein 821	gene	DOID:10534	stomach cancer		ISO	RGD:1604613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8796890	Znf821	zinc finger protein 821	gene	DOID:1324	lung cancer		ISO	RGD:1604613	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8796890	Znf821	zinc finger protein 821	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8796890	Znf821	zinc finger protein 821	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796890	Znf821	zinc finger protein 821	gene	DOID:9003566	Mesothelioma		ISO	RGD:1604613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8796911	LOC102015452	chromosome unknown open reading frame, human C14orf132	gene	DOID:10534	stomach cancer		ISO	RGD:1350098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8796911	LOC102015452	chromosome unknown open reading frame, human C14orf132	gene	DOID:1324	lung cancer		ISO	RGD:1350098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8796911	LOC102015452	chromosome unknown open reading frame, human C14orf132	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796917	Prkab2	protein kinase AMP-activated non-catalytic subunit beta 2	gene	DOID:1115	sarcoma		ISO	RGD:735943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8796917	Prkab2	protein kinase AMP-activated non-catalytic subunit beta 2	gene	DOID:1324	lung cancer		ISO	RGD:735943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8796917	Prkab2	protein kinase AMP-activated non-catalytic subunit beta 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:735943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8796917	Prkab2	protein kinase AMP-activated non-catalytic subunit beta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796917	Prkab2	protein kinase AMP-activated non-catalytic subunit beta 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8796933	Ube2l3	ubiquitin conjugating enzyme E2 L3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796933	Ube2l3	ubiquitin conjugating enzyme E2 L3	gene	DOID:10534	stomach cancer		ISO	RGD:1318085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8796933	Ube2l3	ubiquitin conjugating enzyme E2 L3	gene	DOID:1909	melanoma		ISO	RGD:1318085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8796933	Ube2l3	ubiquitin conjugating enzyme E2 L3	gene	DOID:5041	esophageal cancer		ISO	RGD:1318085	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8796933	Ube2l3	ubiquitin conjugating enzyme E2 L3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796933	Ube2l3	ubiquitin conjugating enzyme E2 L3	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1318085	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24162738
8796948	Atp9a	ATPase phospholipid transporting 9A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796948	Atp9a	ATPase phospholipid transporting 9A	gene	DOID:0081444	neurodevelopmental disorder with poor growth and behavioral abnormalities		ISO	RGD:735480	D	RGD:7240710	20230505	OMIM			
8796948	Atp9a	ATPase phospholipid transporting 9A	gene	DOID:0081444	neurodevelopmental disorder with poor growth and behavioral abnormalities		ISO	RGD:735480	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and behavioral abnormalities	PMID:25741868|PMID:34379057|PMID:36604604|PMID:40226306
8796948	Atp9a	ATPase phospholipid transporting 9A	gene	DOID:1059	intellectual disability		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8796948	Atp9a	ATPase phospholipid transporting 9A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8796948	Atp9a	ATPase phospholipid transporting 9A	gene	DOID:1115	sarcoma		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8796948	Atp9a	ATPase phospholipid transporting 9A	gene	DOID:12849	autistic disorder		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8796948	Atp9a	ATPase phospholipid transporting 9A	gene	DOID:1826	epilepsy		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8796948	Atp9a	ATPase phospholipid transporting 9A	gene	DOID:1909	melanoma		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8796948	Atp9a	ATPase phospholipid transporting 9A	gene	DOID:3275	thymoma		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8796948	Atp9a	ATPase phospholipid transporting 9A	gene	DOID:4362	cervical cancer		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8796948	Atp9a	ATPase phospholipid transporting 9A	gene	DOID:5041	esophageal cancer		ISO	RGD:735480	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8796948	Atp9a	ATPase phospholipid transporting 9A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8796948	Atp9a	ATPase phospholipid transporting 9A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796948	Atp9a	ATPase phospholipid transporting 9A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8796948	Atp9a	ATPase phospholipid transporting 9A	gene	DOID:630	genetic disease		ISO	RGD:735480	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8796948	Atp9a	ATPase phospholipid transporting 9A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8796948	Atp9a	ATPase phospholipid transporting 9A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8796948	Atp9a	ATPase phospholipid transporting 9A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8796948	Atp9a	ATPase phospholipid transporting 9A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8796980	Ebf1	EBF transcription factor 1	gene	DOID:0050873	follicular lymphoma		ISO	RGD:1349579	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24362818
8796980	Ebf1	EBF transcription factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8796980	Ebf1	EBF transcription factor 1	gene	DOID:0060058	lymphoma		ISO	RGD:1349579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8796980	Ebf1	EBF transcription factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8796980	Ebf1	EBF transcription factor 1	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1349579	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
8796980	Ebf1	EBF transcription factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1349579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8796980	Ebf1	EBF transcription factor 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1349579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:19996307|PMID:32364535|PMID:35101336|PMID:35609565
8796980	Ebf1	EBF transcription factor 1	gene	DOID:1909	melanoma		ISO	RGD:1349579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8796980	Ebf1	EBF transcription factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8796980	Ebf1	EBF transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8796980	Ebf1	EBF transcription factor 1	gene	DOID:811	lipodystrophy		ISO	RGD:732633	D	RGD:9068941	20220825	MouseDO		OMIM:608709	
8796980	Ebf1	EBF transcription factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8796980	Ebf1	EBF transcription factor 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1349579	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24362818
8797004	Ints1	integrator complex subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8797004	Ints1	integrator complex subunit 1	gene	DOID:0050581	brachydactyly		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	
8797004	Ints1	integrator complex subunit 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	
8797004	Ints1	integrator complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8797004	Ints1	integrator complex subunit 1	gene	DOID:0060058	lymphoma		ISO	RGD:1606801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8797004	Ints1	integrator complex subunit 1	gene	DOID:0070346	neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies		ISO	RGD:1606801	D	RGD:7240710	20191016	OMIM			
8797004	Ints1	integrator complex subunit 1	gene	DOID:0070346	neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies		ISO	RGD:1606801	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTS1-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	PMID:16199547|PMID:25741868|PMID:28492532|PMID:28542170|PMID:30622326|PMID:31428919|PMID:38177409
8797004	Ints1	integrator complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8797004	Ints1	integrator complex subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8797004	Ints1	integrator complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8797004	Ints1	integrator complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8797004	Ints1	integrator complex subunit 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	
8797004	Ints1	integrator complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8797004	Ints1	integrator complex subunit 1	gene	DOID:1826	epilepsy		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8797004	Ints1	integrator complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8797004	Ints1	integrator complex subunit 1	gene	DOID:1925	Coffin-Siris syndrome		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome	
8797004	Ints1	integrator complex subunit 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
8797004	Ints1	integrator complex subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8797004	Ints1	integrator complex subunit 1	gene	DOID:2355	anemia		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	
8797004	Ints1	integrator complex subunit 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1606801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8797004	Ints1	integrator complex subunit 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8797004	Ints1	integrator complex subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8797004	Ints1	integrator complex subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8797004	Ints1	integrator complex subunit 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8797004	Ints1	integrator complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8797004	Ints1	integrator complex subunit 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8797004	Ints1	integrator complex subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606801	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8797004	Ints1	integrator complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797004	Ints1	integrator complex subunit 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1606801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8797004	Ints1	integrator complex subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8797004	Ints1	integrator complex subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1606801	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8797004	Ints1	integrator complex subunit 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8797004	Ints1	integrator complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8797004	Ints1	integrator complex subunit 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
8797004	Ints1	integrator complex subunit 1	gene	DOID:9003591	Telecanthus		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	
8797004	Ints1	integrator complex subunit 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8797004	Ints1	integrator complex subunit 1	gene	DOID:9004108	Fused Kidney		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	
8797004	Ints1	integrator complex subunit 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
8797004	Ints1	integrator complex subunit 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8797004	Ints1	integrator complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8797004	Ints1	integrator complex subunit 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8797004	Ints1	integrator complex subunit 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8797004	Ints1	integrator complex subunit 1	gene	DOID:9008421	Epistaxis		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spontaneous, recurrent epistaxis	
8797004	Ints1	integrator complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8797004	Ints1	integrator complex subunit 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
8797004	Ints1	integrator complex subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8797004	Ints1	integrator complex subunit 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8797063	Zbtb45	zinc finger and BTB domain containing 45	gene	DOID:4362	cervical cancer		ISO	RGD:1322100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8797063	Zbtb45	zinc finger and BTB domain containing 45	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797063	Zbtb45	zinc finger and BTB domain containing 45	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8797070	Samd5	sterile alpha motif domain containing 5	gene	DOID:3275	thymoma		ISO	RGD:1353343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8797070	Samd5	sterile alpha motif domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797070	Samd5	sterile alpha motif domain containing 5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1353343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8797074	Tdrd9	tudor domain containing 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8797074	Tdrd9	tudor domain containing 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8797074	Tdrd9	tudor domain containing 9	gene	DOID:0080600	COVID-19		ISO	RGD:1315843	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8797074	Tdrd9	tudor domain containing 9	gene	DOID:0111913	spermatogenic failure 30		ISO	RGD:1315843	D	RGD:7240710	20190410	OMIM			
8797074	Tdrd9	tudor domain containing 9	gene	DOID:0111913	spermatogenic failure 30		ISO	RGD:1315843	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 30 | ClinVar Annotator: match by term: TDRD9-related condition	PMID:25741868|PMID:28492532
8797074	Tdrd9	tudor domain containing 9	gene	DOID:1115	sarcoma		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8797074	Tdrd9	tudor domain containing 9	gene	DOID:12336	male infertility		ISO	RGD:1315843	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Male infertility	
8797074	Tdrd9	tudor domain containing 9	gene	DOID:14227	azoospermia		ISO	RGD:1315843	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Azoospermia	
8797074	Tdrd9	tudor domain containing 9	gene	DOID:1909	melanoma		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8797074	Tdrd9	tudor domain containing 9	gene	DOID:4362	cervical cancer		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8797074	Tdrd9	tudor domain containing 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8797074	Tdrd9	tudor domain containing 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1315843	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8797074	Tdrd9	tudor domain containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797074	Tdrd9	tudor domain containing 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8797074	Tdrd9	tudor domain containing 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8797119	Cacybp	calcyclin binding protein	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:1346732	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:pancreas	PMID:18765951|REF_RGD_ID:2326146
8797119	Cacybp	calcyclin binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8797119	Cacybp	calcyclin binding protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8797119	Cacybp	calcyclin binding protein	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1346732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8797119	Cacybp	calcyclin binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797119	Cacybp	calcyclin binding protein	gene	DOID:5844	myocardial infarction		ISO	RGD:1303146	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:16440310|REF_RGD_ID:2326117
8797119	Cacybp	calcyclin binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8797119	Cacybp	calcyclin binding protein	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1346732	D	RGD:9068941	20200609	RGD		associated with pancreatic neoplasms	PMID:18765951|REF_RGD_ID:2326146
8797119	Cacybp	calcyclin binding protein	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1346732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8797130	Fem1c	fem-1 homolog C	gene	DOID:3275	thymoma		ISO	RGD:1319607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8797130	Fem1c	fem-1 homolog C	gene	DOID:4362	cervical cancer		ISO	RGD:1319607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8797130	Fem1c	fem-1 homolog C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797130	Fem1c	fem-1 homolog C	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319607	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28135719|PMID:36336956
8797130	Fem1c	fem-1 homolog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319607	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
8797137	Endov	endonuclease V	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8797137	Endov	endonuclease V	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8797137	Endov	endonuclease V	gene	DOID:0060058	lymphoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8797137	Endov	endonuclease V	gene	DOID:1115	sarcoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8797137	Endov	endonuclease V	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8797137	Endov	endonuclease V	gene	DOID:3070	high grade glioma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8797137	Endov	endonuclease V	gene	DOID:3275	thymoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8797137	Endov	endonuclease V	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8797137	Endov	endonuclease V	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8797137	Endov	endonuclease V	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797137	Endov	endonuclease V	gene	DOID:6039	uveal melanoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8797137	Endov	endonuclease V	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8797137	Endov	endonuclease V	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8797137	Endov	endonuclease V	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8797137	Endov	endonuclease V	gene	DOID:9256	colorectal cancer		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8797150	Ctnna1	catenin alpha 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8797150	Ctnna1	catenin alpha 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
8797150	Ctnna1	catenin alpha 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1348842	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
8797150	Ctnna1	catenin alpha 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8797150	Ctnna1	catenin alpha 1	gene	DOID:0060863	patterned macular dystrophy		ISO	RGD:1348842	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26691986
8797150	Ctnna1	catenin alpha 1	gene	DOID:0060864	patterned macular dystrophy 2		ISO	RGD:1348842	D	RGD:7240710	20190315	OMIM			
8797150	Ctnna1	catenin alpha 1	gene	DOID:0060864	patterned macular dystrophy 2		ISO	RGD:1348842	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CTNNA1-related condition | ClinVar Annotator: match by term: MACULAR DYSTROPHY, PATTERNED, 2 | ClinVar Annotator: match by term: Patterned macular dystrophy 2	PMID:25741868|PMID:26691986|PMID:28492532|PMID:32051609|PMID:34425242|PMID:37734845
8797150	Ctnna1	catenin alpha 1	gene	DOID:0080143	congenital fibrosis of the extraocular muscles		ISO	RGD:1348842	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles	PMID:25741868
8797150	Ctnna1	catenin alpha 1	gene	DOID:0080764	hereditary diffuse gastric cancer		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
8797150	Ctnna1	catenin alpha 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
8797150	Ctnna1	catenin alpha 1	gene	DOID:0111685	hereditary mixed polyposis syndrome 1		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1	PMID:28492532
8797150	Ctnna1	catenin alpha 1	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1348842	D	RGD:9068941	20200609	RGD			PMID:17639504|REF_RGD_ID:2289791
8797150	Ctnna1	catenin alpha 1	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1348842	D	RGD:9068941	20200609	RGD		protein:decreased expression:prostate gland	PMID:16334164|REF_RGD_ID:2289793
8797150	Ctnna1	catenin alpha 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8797150	Ctnna1	catenin alpha 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8797150	Ctnna1	catenin alpha 1	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1348842	D	RGD:9068941	20200609	RGD			PMID:17760743|REF_RGD_ID:2289491
8797150	Ctnna1	catenin alpha 1	gene	DOID:11162	respiratory failure		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532
8797150	Ctnna1	catenin alpha 1	gene	DOID:11830	myopia		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8797150	Ctnna1	catenin alpha 1	gene	DOID:12176	goiter		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:28492532
8797150	Ctnna1	catenin alpha 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
8797150	Ctnna1	catenin alpha 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
8797150	Ctnna1	catenin alpha 1	gene	DOID:1324	lung cancer		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8797150	Ctnna1	catenin alpha 1	gene	DOID:1612	breast cancer		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
8797150	Ctnna1	catenin alpha 1	gene	DOID:1909	melanoma		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8797150	Ctnna1	catenin alpha 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
8797150	Ctnna1	catenin alpha 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
8797150	Ctnna1	catenin alpha 1	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1348842	D	RGD:9068941	20200609	RGD			PMID:16426728|REF_RGD_ID:2298486
8797150	Ctnna1	catenin alpha 1	gene	DOID:2841	asthma		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
8797150	Ctnna1	catenin alpha 1	gene	DOID:3275	thymoma		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8797150	Ctnna1	catenin alpha 1	gene	DOID:3457	invasive lobular carcinoma		ISO	RGD:1348842	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast	PMID:12047765|REF_RGD_ID:2289795
8797150	Ctnna1	catenin alpha 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:25741868|PMID:27153395|PMID:28492532|PMID:30515673|PMID:32051609|PMID:34425242
8797150	Ctnna1	catenin alpha 1	gene	DOID:3905	lung carcinoma		ISO	RGD:1359485	D	RGD:9068941	20200609	RGD			PMID:15195114|REF_RGD_ID:2289804
8797150	Ctnna1	catenin alpha 1	gene	DOID:420	hypertrichosis		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
8797150	Ctnna1	catenin alpha 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8797150	Ctnna1	catenin alpha 1	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:1348842	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney	PMID:9355975|REF_RGD_ID:2289799
8797150	Ctnna1	catenin alpha 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8797150	Ctnna1	catenin alpha 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348842	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8797150	Ctnna1	catenin alpha 1	gene	DOID:5041	esophageal cancer	disease_progression	ISO	RGD:1359485	D	RGD:9068941	20200609	RGD			PMID:9863006|REF_RGD_ID:2289811
8797150	Ctnna1	catenin alpha 1	gene	DOID:5374	pilomatrixoma		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pilomatrixoma	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
8797150	Ctnna1	catenin alpha 1	gene	DOID:5419	schizophrenia		ISO	RGD:1348842	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8797150	Ctnna1	catenin alpha 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797150	Ctnna1	catenin alpha 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
8797150	Ctnna1	catenin alpha 1	gene	DOID:7765	Coats disease		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exudative retinopathy	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
8797150	Ctnna1	catenin alpha 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
8797150	Ctnna1	catenin alpha 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28041643|PMID:28492532|PMID:32051609|PMID:32581362|PMID:33137351|PMID:38219857
8797150	Ctnna1	catenin alpha 1	gene	DOID:8991	cervix uteri carcinoma in situ	disease_progression	ISO	RGD:1348842	D	RGD:9068941	20200609	RGD		protein:decreased expression:uterine cervix	PMID:11161853|REF_RGD_ID:2289797
8797150	Ctnna1	catenin alpha 1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1348842	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms	PMID:12047765|REF_RGD_ID:2289795
8797150	Ctnna1	catenin alpha 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
8797150	Ctnna1	catenin alpha 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
8797150	Ctnna1	catenin alpha 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
8797150	Ctnna1	catenin alpha 1	gene	DOID:9002189	High Myopia		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
8797150	Ctnna1	catenin alpha 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1348842	D	RGD:9068941	20200609	RGD		protein:decreased expression:ovary	PMID:9522220|REF_RGD_ID:2289798
8797150	Ctnna1	catenin alpha 1	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1348842	D	RGD:9068941	20200609	RGD		protein:decreased expression:uterine cervix	PMID:11161853|REF_RGD_ID:2289797
8797150	Ctnna1	catenin alpha 1	gene	DOID:9004692	Fused Teeth		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Teeth, fused	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
8797150	Ctnna1	catenin alpha 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
8797150	Ctnna1	catenin alpha 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8797150	Ctnna1	catenin alpha 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348842	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:18487285|PMID:19279422|PMID:21643010|PMID:23208944|PMID:25741868|PMID:26182300|PMID:26691986|PMID:26845104|PMID:28166811|PMID:28455161|PMID:28492532|PMID:29330337|PMID:9536098
8797150	Ctnna1	catenin alpha 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348842	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17576681|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:25741868|PMID:26691986|PMID:26845104|PMID:28041643|PMID:28492532|PMID:29330337|PMID:30515673|PMID:32051609|PMID:32717343|PMID:33137351|PMID:33435129|PMID:9536098
8797150	Ctnna1	catenin alpha 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348842	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:25741868|PMID:26691986|PMID:26845104|PMID:27153395|PMID:28041643|PMID:28492532|PMID:29330337|PMID:30515673|PMID:32051609|PMID:32717343|PMID:33137351|PMID:33435129|PMID:33497368|PMID:9536098
8797150	Ctnna1	catenin alpha 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348842	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:25741868|PMID:26182300|PMID:26689913|PMID:26691986|PMID:26845104|PMID:27153395|PMID:28041643|PMID:28492532|PMID:29330337|PMID:30515673|PMID:32051609|PMID:32717343|PMID:33137351|PMID:33435129|PMID:33497368|PMID:34326862|PMID:34425242|PMID:9536098
8797150	Ctnna1	catenin alpha 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348842	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:25741868|PMID:26182300|PMID:26689913|PMID:26691986|PMID:26845104|PMID:27153395|PMID:28041643|PMID:28106320|PMID:28492532|PMID:29330337|PMID:30515673|PMID:32051609|PMID:32581362|PMID:32717343|PMID:33137351|PMID:33435129|PMID:33497368|PMID:34326862|PMID:34425242|PMID:35957908|PMID:37734845|PMID:9536098
8797150	Ctnna1	catenin alpha 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:17576681|PMID:25741868|PMID:26691986|PMID:26845104|PMID:28492532|PMID:32051609|PMID:34425242|PMID:38127826|PMID:9536098
8797150	Ctnna1	catenin alpha 1	gene	DOID:9007715	Endometrial Neoplasms	disease_progression	ISO	RGD:1348842	D	RGD:9068941	20200609	RGD			PMID:16803534|REF_RGD_ID:2298485
8797150	Ctnna1	catenin alpha 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
8797150	Ctnna1	catenin alpha 1	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1348842	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:31292255
8797150	Ctnna1	catenin alpha 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1348842	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast	PMID:17223851|REF_RGD_ID:2289792
8797150	Ctnna1	catenin alpha 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1348842	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:11431364|REF_RGD_ID:2289796
8797150	Ctnna1	catenin alpha 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8797150	Ctnna1	catenin alpha 1	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1348842	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
8797150	Ctnna1	catenin alpha 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1348842	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
8797150	Ctnna1	catenin alpha 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1348842	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532|PMID:32051609|PMID:34425242
8797150	Ctnna1	catenin alpha 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
8797150	Ctnna1	catenin alpha 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
8797150	Ctnna1	catenin alpha 1	gene	DOID:9970	obesity		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
8797197	Fam200c	family with sequence similarity 200 member C	gene	DOID:10534	stomach cancer		ISO	RGD:1606516	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8797197	Fam200c	family with sequence similarity 200 member C	gene	DOID:1324	lung cancer		ISO	RGD:1606516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8797197	Fam200c	family with sequence similarity 200 member C	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8797210	Tmeff2	transmembrane protein with EGF like and two follistatin like domains 2	gene	DOID:10283	prostate cancer		ISO	RGD:1318843	D	RGD:9068941	20200609	RGD			PMID:15299075|REF_RGD_ID:2290490
8797210	Tmeff2	transmembrane protein with EGF like and two follistatin like domains 2	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1318843	D	RGD:9068941	20200609	RGD			PMID:16500022|REF_RGD_ID:2290485
8797210	Tmeff2	transmembrane protein with EGF like and two follistatin like domains 2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1318843	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8797210	Tmeff2	transmembrane protein with EGF like and two follistatin like domains 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318843	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23405127
8797223	Trim71	tripartite motif containing 71	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1606726	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868
8797223	Trim71	tripartite motif containing 71	gene	DOID:0070681	congenital hydrocephalus		ISO	RGD:1606726	D	RGD:8554872	20260505	ClinVar		ClinVar Annotator: match by term: Congenital hydrocephalus	PMID:25741868|PMID:29983323
8797223	Trim71	tripartite motif containing 71	gene	DOID:0070685	congenital hydrocephalus 4		ISO	RGD:1606726	D	RGD:7240710	20200422	OMIM			
8797223	Trim71	tripartite motif containing 71	gene	DOID:0070685	congenital hydrocephalus 4		ISO	RGD:1606726	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL, 4 | ClinVar Annotator: match by term: Hydrocephalus, congenital communicating, 1 | ClinVar Annotator: match by term: TRIM71-related condition	PMID:25741868|PMID:29983323
8797223	Trim71	tripartite motif containing 71	gene	DOID:0080600	COVID-19		ISO	RGD:1606726	D	RGD:9068941	20220523	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8797223	Trim71	tripartite motif containing 71	gene	DOID:10908	hydrocephalus		ISO	RGD:1613794	D	RGD:9068941	20260507	MouseDO		OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219	
8797223	Trim71	tripartite motif containing 71	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8797223	Trim71	tripartite motif containing 71	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606726	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8797223	Trim71	tripartite motif containing 71	gene	DOID:9003436	CRYPTOZOOSPERMIA		ISO	RGD:1606726	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cryptozoospermia	PMID:25741868
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:736969	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC	PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:736969	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10807545|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:29625280|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:8899564|PMID:9445165
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:736969	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10807545|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:29625280|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:32429735|PMID:8899564|PMID:9445165
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:736969	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:10807545|PMID:10973849|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:21907427|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24710009|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:28807990|PMID:29625280|PMID:30245029|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:32429735|PMID:8899564|PMID:9445165
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:736969	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10807545|PMID:10973849|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:21907427|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23098067|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24710009|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:28807990|PMID:29625280|PMID:30245029|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31941373|PMID:32429735|PMID:8899564|PMID:9445165
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:736969	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:10973849|PMID:16922724|PMID:17341399|PMID:19907016|PMID:23098067|PMID:24033266|PMID:24561134|PMID:25741868|PMID:28492532|PMID:30530868|PMID:31941373|PMID:38218330|PMID:38816749
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:736969	D	RGD:9068941	20200609	RGD			PMID:12228786|REF_RGD_ID:1580498
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:0080600	COVID-19		ISO	RGD:736969	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:736969	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:736969	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:736969	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:736969	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:736969	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:736969	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:31983240|PMID:32058015|PMID:32344329|PMID:32429735|PMID:34403091|PMID:34426522|PMID:35373836|PMID:38816749|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:736969	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:31983240|PMID:32058015|PMID:32344329|PMID:32429735|PMID:32451364|PMID:34403091|PMID:34426522|PMID:35373836|PMID:38816749|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:736969	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:15051636|PMID:16414944|PMID:16914890|PMID:16945797|PMID:19008479|PMID:19219384|PMID:19716085|PMID:19907016|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31941373|PMID:32058015|PMID:9354802|PMID:9834138
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:0110647	long QT syndrome 5		ISO	RGD:736969	D	RGD:7240710	20180130	OMIM			
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:0110647	long QT syndrome 5		ISO	RGD:736969	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: KCNE1-related condition | ClinVar Annotator: match by term: Long QT syndrome 5	PMID:10400998|PMID:10973849|PMID:11692163|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15840476|PMID:16155735|PMID:16379539|PMID:16414944|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17130521|PMID:17341399|PMID:18752142|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:21070882|PMID:21152909|PMID:21576493|PMID:21967835|PMID:22429796|PMID:22934933|PMID:23098067|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24217263|PMID:24314077|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25351510|PMID:25637381|PMID:25741868|PMID:25956966|PMID:25998140|PMID:26159999|PMID:26467025|PMID:26675252|PMID:27871843|PMID:28018021|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28616568|PMID:29032884|PMID:29247119|PMID:29255176|PMID:29261713|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30461122|PMID:30530868|PMID:30975432|PMID:31337358|PMID:31447099|PMID:31737537|PMID:31941373|PMID:32058015|PMID:32145446|PMID:33693037|PMID:34930020|PMID:35352813|PMID:38218330|PMID:38489124|PMID:38816749|PMID:39073097|PMID:39082327|PMID:7828904|PMID:9354802|PMID:9445165|PMID:9834138
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:736969	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:24217263|PMID:28492532|PMID:29255176|PMID:38816749
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:2842	Jervell-Lange Nielsen syndrome		ISO	RGD:736969	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome | ClinVar Annotator: match by term: Surdo-cardiac syndrome	PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:2842	Jervell-Lange Nielsen syndrome		ISO	RGD:736969	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome | ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1	PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30311386|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:31983240|PMID:32058015|PMID:32344329|PMID:35373836|PMID:38816749|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:2843	long QT syndrome		ISO	RGD:736969	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32164657|PMID:32344329|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:2843	long QT syndrome		ISO	RGD:736969	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:21907427|PMID:21967835|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24314077|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25351510|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28616568|PMID:28767663|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30245029|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:30975432|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32164657|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:2843	long QT syndrome		ISO	RGD:736969	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17130521|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:21907427|PMID:21967835|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24217263|PMID:24314077|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25351510|PMID:25535795|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27076034|PMID:27784853|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28616568|PMID:28767663|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30079003|PMID:30123799|PMID:30245029|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:30975432|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32145446|PMID:32164657|PMID:32344329|PMID:32429735|PMID:32470535|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:2843	long QT syndrome		ISO	RGD:736969	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17130521|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:1939241|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:21907427|PMID:21967835|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24217263|PMID:24314077|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25351510|PMID:25535795|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27076034|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28616568|PMID:28767663|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30079003|PMID:30123799|PMID:30245029|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:30975432|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32145446|PMID:32164657|PMID:32344329|PMID:32429735|PMID:32470535|PMID:34403091|PMID:34426522|PMID:35027292|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:2843	long QT syndrome		ISO	RGD:736969	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17130521|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:1939241|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:21907427|PMID:21967835|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24217263|PMID:24314077|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25351510|PMID:25535795|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27076034|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28616568|PMID:28767663|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30079003|PMID:30123799|PMID:30245029|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:30975432|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:31983240|PMID:32058015|PMID:32145446|PMID:32164657|PMID:32344329|PMID:32429735|PMID:32451364|PMID:32470535|PMID:34395343|PMID:34403091|PMID:34426522|PMID:34930020|PMID:35027292|PMID:35373836|PMID:38489124|PMID:38816749|PMID:39082327|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:2843	long QT syndrome		ISO	RGD:736969	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12566567|PMID:14499862|PMID:14661677|PMID:15051636|PMID:15840476|PMID:16155735|PMID:16379539|PMID:16414944|PMID:16818210|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17130521|PMID:17341399|PMID:18752142|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19340287|PMID:1939241|PMID:19521339|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:21070882|PMID:21152909|PMID:21576493|PMID:21854832|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24217263|PMID:24314077|PMID:24400172|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25351510|PMID:25535795|PMID:25637381|PMID:25741868|PMID:25956966|PMID:25998140|PMID:26159999|PMID:26187847|PMID:26410412|PMID:26675252|PMID:27076034|PMID:28018021|PMID:28176637|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28616568|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29255176|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30079003|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30975432|PMID:31043699|PMID:31337358|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:31983240|PMID:32058015|PMID:32344329|PMID:32451364|PMID:32470535|PMID:34930020|PMID:35352813|PMID:35373836|PMID:38218330|PMID:38489124|PMID:38816749|PMID:39073097|PMID:39082327|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:2843	long QT syndrome	susceptibility	ISO	RGD:736969	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.D85N(human)	PMID:19695459|REF_RGD_ID:11072353
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:4440	seminoma		ISO	RGD:736969	D	RGD:9068941	20200609	RGD			PMID:15389592|REF_RGD_ID:1580497
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:6000	congestive heart failure		ISO	RGD:2956	D	RGD:9068941	20200609	RGD		associated with Myocardial Infarction (RDO:0006167); mRNA:increased expression:heart left ventricle, septum	PMID:16497176|REF_RGD_ID:1642301
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:6000	congestive heart failure		ISO	RGD:736969	D	RGD:9068941	20200609	RGD		mRNA:increased expression:endocardium of right ventricle:	PMID:17384445|REF_RGD_ID:12910696
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:736969	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arrhythmia	
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:736969	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:16823764
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:9004730	Romano-Ward Syndrome		ISO	RGD:736969	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:15051636|PMID:16414944|PMID:16914890|PMID:16945797|PMID:19008479|PMID:19219384|PMID:19716085|PMID:19907016|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31941373|PMID:32058015|PMID:9354802|PMID:9834138
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:9005444	Torsades de Pointes		ISO	RGD:736969	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:p.D85N (rs1805128)(human)	PMID:22100668|REF_RGD_ID:11066279
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:736969	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sudden infant death syndrome	PMID:25741868|PMID:28492532|PMID:30461122|PMID:35027292
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:9007577	Jervell And Lange-Nielsen Syndrome 2		ISO	RGD:736969	D	RGD:7240710	20180130	OMIM			
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:9007577	Jervell And Lange-Nielsen Syndrome 2		ISO	RGD:736969	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: JERVELL AND LANGE-NIELSEN SYNDROME 2 | ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 2	PMID:10973849|PMID:11692163|PMID:15051636|PMID:16379539|PMID:16414944|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17341399|PMID:18752142|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:21070882|PMID:21576493|PMID:22429796|PMID:22934933|PMID:23098067|PMID:23174487|PMID:24033266|PMID:24561134|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25741868|PMID:25956966|PMID:25998140|PMID:26159999|PMID:26675252|PMID:28018021|PMID:28492532|PMID:29032884|PMID:29247119|PMID:30020974|PMID:30461122|PMID:30530868|PMID:31337358|PMID:31941373|PMID:32058015|PMID:38218330|PMID:38816749|PMID:39082327|PMID:9354783|PMID:9354802|PMID:9834138
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:9008681	Deafness		ISO	RGD:736969	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:10973849|PMID:16922724|PMID:17341399|PMID:19716085|PMID:21070882|PMID:28492532|PMID:30311386|PMID:30461122|PMID:30530868|PMID:31941373|PMID:32058015|PMID:40377830
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:9009383	Jervell And Lange-Nielsen Syndrome 1		ISO	RGD:736969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1	PMID:30311386
8797242	Kcne1	potassium voltage-gated channel subfamily E regulatory subunit 1	gene	DOID:988	mitral valve prolapse		ISO	RGD:736969	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	PMID:19716085|PMID:19862833|PMID:21576493|PMID:24033266|PMID:24631775|PMID:25741868|PMID:28018021|PMID:28492532|PMID:29247119|PMID:30020974|PMID:30461122|PMID:31941373|PMID:32058015
8797248	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1319743	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:28492532
8797248	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8797248	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:0080946	retinal dystrophy with leukodystrophy		ISO	RGD:1319743	D	RGD:7240710	20200819	OMIM			
8797248	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:0080946	retinal dystrophy with leukodystrophy		ISO	RGD:1319743	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACBD5-related condition | ClinVar Annotator: match by term: RETINAL DYSTROPHY WITH LEUKODYSTROPHY | ClinVar Annotator: match by term: Retinal dystrophy with leukodystrophy	PMID:25741868|PMID:28492532
8797248	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8797248	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:1324	lung cancer		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8797248	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:3070	high grade glioma		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8797248	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8797248	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8797248	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:5679	retinal disease		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	
8797248	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797248	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8797248	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:630	genetic disease		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8797248	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:8501	fundus dystrophy		ISO	RGD:1319743	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
8797248	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:9000343	Vision Disorders		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:23105016|PMID:25741868|PMID:27799409|PMID:28492532|PMID:33427402
8797248	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:936	brain disease		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:23105016|PMID:25741868|PMID:27799409|PMID:28492532|PMID:33427402
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:10534	stomach cancer		ISO	RGD:735807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:1115	sarcoma		ISO	RGD:735807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:11832	visual epilepsy		ISO	RGD:735807	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:19815072
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:1324	lung cancer		ISO	RGD:735807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:1459	hypothyroidism		ISO	RGD:3252	D	RGD:9068941	20200609	RGD		mRNA:increased stability:pituitary gland	PMID:8940376|REF_RGD_ID:2302427
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:1909	melanoma		ISO	RGD:735807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:2030	anxiety disorder		ISO	RGD:735807	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19815072
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:2394	ovarian cancer		ISO	RGD:735807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:2526	prostate adenocarcinoma		ISO	RGD:735807	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate gland (human)	PMID:11221851|REF_RGD_ID:6483769
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:4362	cervical cancer		ISO	RGD:735807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:9002221	Hyperplasia		ISO	RGD:3252	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, alveolus (rat)	PMID:11742033|REF_RGD_ID:6483575
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:3252	D	RGD:9068941	20200609	RGD			PMID:17138865|REF_RGD_ID:6483527
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:9004756	Brain Hypoxia		ISO	RGD:3252	D	RGD:9068941	20200609	RGD		protein:increased activity:brain stem (rat)	PMID:18818385|REF_RGD_ID:6483514
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:735807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735807	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:9256	colorectal cancer		ISO	RGD:735807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8797280	Pam	peptidylglycine alpha-amidating monooxygenase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735807	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24464100|PMID:30054598
8797314	Epb41l2	erythrocyte membrane protein band 4.1 like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8797314	Epb41l2	erythrocyte membrane protein band 4.1 like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8797314	Epb41l2	erythrocyte membrane protein band 4.1 like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8797314	Epb41l2	erythrocyte membrane protein band 4.1 like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8797314	Epb41l2	erythrocyte membrane protein band 4.1 like 2	gene	DOID:1115	sarcoma		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8797314	Epb41l2	erythrocyte membrane protein band 4.1 like 2	gene	DOID:1324	lung cancer		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8797314	Epb41l2	erythrocyte membrane protein band 4.1 like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8797314	Epb41l2	erythrocyte membrane protein band 4.1 like 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8797314	Epb41l2	erythrocyte membrane protein band 4.1 like 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8797314	Epb41l2	erythrocyte membrane protein band 4.1 like 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8797314	Epb41l2	erythrocyte membrane protein band 4.1 like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8797314	Epb41l2	erythrocyte membrane protein band 4.1 like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348118	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8797314	Epb41l2	erythrocyte membrane protein band 4.1 like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797314	Epb41l2	erythrocyte membrane protein band 4.1 like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8797314	Epb41l2	erythrocyte membrane protein band 4.1 like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8797314	Epb41l2	erythrocyte membrane protein band 4.1 like 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8797314	Epb41l2	erythrocyte membrane protein band 4.1 like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8797314	Epb41l2	erythrocyte membrane protein band 4.1 like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8797341	Egln2	egl-9 family hypoxia inducible factor 2	gene	DOID:0050742	nicotine dependence		ISO	RGD:736328	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:20418890
8797341	Egln2	egl-9 family hypoxia inducible factor 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:736328	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:20978146|REF_RGD_ID:13504705
8797369	Nmu	neuromedin U	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8797369	Nmu	neuromedin U	gene	DOID:1115	sarcoma		ISO	RGD:68564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8797369	Nmu	neuromedin U	gene	DOID:3275	thymoma		ISO	RGD:68564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8797369	Nmu	neuromedin U	gene	DOID:4362	cervical cancer		ISO	RGD:68564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8797369	Nmu	neuromedin U	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797369	Nmu	neuromedin U	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:68564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8797369	Nmu	neuromedin U	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8797369	Nmu	neuromedin U	gene	DOID:9970	obesity		ISO	RGD:68388	D	RGD:9068941	20200609	RGD			PMID:17706946|REF_RGD_ID:1642093
8797369	Nmu	neuromedin U	gene	DOID:9970	obesity		ISO	RGD:68565	D	RGD:9068941	20200609	RGD			PMID:15448684|REF_RGD_ID:1642095
8797369	Nmu	neuromedin U	gene	DOID:9970	obesity	susceptibility	ISO	RGD:68564	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:cds:p.R165W,p.A19E	PMID:16984985|REF_RGD_ID:1642094
8797383	LOC102003847	NADH-cytochrome b5 reductase-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:2302325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8797383	LOC102003847	NADH-cytochrome b5 reductase-like	gene	DOID:1909	melanoma		ISO	RGD:2302325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8797383	LOC102003847	NADH-cytochrome b5 reductase-like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:2302325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8797383	LOC102003847	NADH-cytochrome b5 reductase-like	gene	DOID:5041	esophageal cancer		ISO	RGD:2302325	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8797383	LOC102003847	NADH-cytochrome b5 reductase-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2302325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8797403	Hnrnpa3	heterogeneous nuclear ribonucleoprotein A3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8797403	Hnrnpa3	heterogeneous nuclear ribonucleoprotein A3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8797403	Hnrnpa3	heterogeneous nuclear ribonucleoprotein A3	gene	DOID:10325	silicosis		ISO	RGD:727807	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:19534998|REF_RGD_ID:10059658
8797403	Hnrnpa3	heterogeneous nuclear ribonucleoprotein A3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8797403	Hnrnpa3	heterogeneous nuclear ribonucleoprotein A3	gene	DOID:1115	sarcoma		ISO	RGD:1343696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8797403	Hnrnpa3	heterogeneous nuclear ribonucleoprotein A3	gene	DOID:1324	lung cancer		ISO	RGD:1343696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8797403	Hnrnpa3	heterogeneous nuclear ribonucleoprotein A3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8797403	Hnrnpa3	heterogeneous nuclear ribonucleoprotein A3	gene	DOID:4362	cervical cancer		ISO	RGD:1343696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8797403	Hnrnpa3	heterogeneous nuclear ribonucleoprotein A3	gene	DOID:5041	esophageal cancer		ISO	RGD:1343696	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8797403	Hnrnpa3	heterogeneous nuclear ribonucleoprotein A3	gene	DOID:5419	schizophrenia		ISO	RGD:1343696	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16223876
8797403	Hnrnpa3	heterogeneous nuclear ribonucleoprotein A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797403	Hnrnpa3	heterogeneous nuclear ribonucleoprotein A3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8797403	Hnrnpa3	heterogeneous nuclear ribonucleoprotein A3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8797403	Hnrnpa3	heterogeneous nuclear ribonucleoprotein A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8797403	Hnrnpa3	heterogeneous nuclear ribonucleoprotein A3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8797424	Myh2	myosin heavy chain 2	gene	DOID:0080719	congenital myopathy 6		ISO	RGD:1347033	D	RGD:7240710	20180221	OMIM			
8797424	Myh2	myosin heavy chain 2	gene	DOID:0080719	congenital myopathy 6		ISO	RGD:1347033	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Inclusion body myopathy autosomal dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia	PMID:11114175|PMID:11889243|PMID:15548556|PMID:15741996|PMID:16130113|PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:20418530|PMID:22349865|PMID:22406018|PMID:23388406|PMID:23489661|PMID:24033266|PMID:24193343|PMID:24948216|PMID:25399751|PMID:25617006|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27066573|PMID:28492532|PMID:29934118|PMID:31127727|PMID:31321302|PMID:31407473|PMID:32578970|PMID:33250842|PMID:34459418|PMID:35239206|PMID:36774715|PMID:9536098
8797424	Myh2	myosin heavy chain 2	gene	DOID:0080719	congenital myopathy 6		ISO	RGD:1347033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia	PMID:16199547|PMID:20418530|PMID:23388406|PMID:24193343|PMID:25640679|PMID:25741868|PMID:28492532
8797424	Myh2	myosin heavy chain 2	gene	DOID:3429	inclusion body myositis		ISO	RGD:1347033	D	RGD:9068941	20230615	RGD		IBM3, OMIM:605637, DNA:point mutation:exon:E706K	PMID:11114175|REF_RGD_ID:1600532
8797424	Myh2	myosin heavy chain 2	gene	DOID:630	genetic disease		ISO	RGD:1347033	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:34459418
8797466	Igf2	insulin like growth factor 2	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:2870	D	RGD:9068941	20200609	RGD			PMID:20683203|REF_RGD_ID:5509948
8797466	Igf2	insulin like growth factor 2	gene	DOID:0050589	inflammatory bowel disease	disease_progression	ISO	RGD:737149	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:12548059|REF_RGD_ID:5509968
8797466	Igf2	insulin like growth factor 2	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16092956
8797466	Igf2	insulin like growth factor 2	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:18505416|REF_RGD_ID:5510002
8797466	Igf2	insulin like growth factor 2	gene	DOID:0080006	bone development disease		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9349812
8797466	Igf2	insulin like growth factor 2	gene	DOID:0080552	congenital disorder of glycosylation Ia		ISO	RGD:737149	D	RGD:9068941	20200609	RGD			PMID:19207313|REF_RGD_ID:12910858
8797466	Igf2	insulin like growth factor 2	gene	DOID:0110741	type 1 diabetes mellitus 2		ISO	RGD:10770	D	RGD:9068941	20240425	MouseDO		OMIM:125852	
8797466	Igf2	insulin like growth factor 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10770	D	RGD:9068941	20200609	RGD			PMID:24887203|REF_RGD_ID:10045934
8797466	Igf2	insulin like growth factor 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:brain	PMID:16627931|REF_RGD_ID:5509963
8797466	Igf2	insulin like growth factor 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15750215
8797466	Igf2	insulin like growth factor 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737149	D	RGD:9068941	20200609	RGD			PMID:24685003|REF_RGD_ID:10402559
8797466	Igf2	insulin like growth factor 2	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:10770	D	RGD:9068941	20200609	RGD			PMID:21040071|REF_RGD_ID:10402558
8797466	Igf2	insulin like growth factor 2	gene	DOID:11476	osteoporosis	treatment	ISO	RGD:2870	D	RGD:9068941	20200609	RGD			PMID:12162999|REF_RGD_ID:10402555
8797466	Igf2	insulin like growth factor 2	gene	DOID:12217	Lewy body dementia		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276553
8797466	Igf2	insulin like growth factor 2	gene	DOID:12217	Lewy body dementia		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:frontal cortex	PMID:19276553|REF_RGD_ID:5129515
8797466	Igf2	insulin like growth factor 2	gene	DOID:12849	autistic disorder		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17547689
8797466	Igf2	insulin like growth factor 2	gene	DOID:14183	alcoholic neuropathy		ISO	RGD:2870	D	RGD:9068941	20200609	RGD			PMID:23016131|REF_RGD_ID:10402569
8797466	Igf2	insulin like growth factor 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276553
8797466	Igf2	insulin like growth factor 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:frontal cortex	PMID:19276553|REF_RGD_ID:5129515
8797466	Igf2	insulin like growth factor 2	gene	DOID:14681	Silver-Russell syndrome		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19066168
8797466	Igf2	insulin like growth factor 2	gene	DOID:1561	cognitive disorder		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21270887
8797466	Igf2	insulin like growth factor 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:737149	D	RGD:9068941	20231221	RGD		protein:decreased expression:plasma (human)	PMID:30277635|REF_RGD_ID:401938665
8797466	Igf2	insulin like growth factor 2	gene	DOID:1612	breast cancer		ISO	RGD:737149	D	RGD:9068941	20200609	RGD			PMID:18719053|REF_RGD_ID:2311512
8797466	Igf2	insulin like growth factor 2	gene	DOID:1657	ventricular septal defect	treatment	ISO	RGD:737149	D	RGD:9068941	20200609	RGD			PMID:21238444|REF_RGD_ID:13204804
8797466	Igf2	insulin like growth factor 2	gene	DOID:1936	atherosclerosis		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11726660
8797466	Igf2	insulin like growth factor 2	gene	DOID:2154	nephroblastoma		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8252039
8797466	Igf2	insulin like growth factor 2	gene	DOID:2355	anemia		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12090760
8797466	Igf2	insulin like growth factor 2	gene	DOID:2377	multiple sclerosis		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		protein:increased expression:macrophage	PMID:10417663|REF_RGD_ID:5510017
8797466	Igf2	insulin like growth factor 2	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7981680
8797466	Igf2	insulin like growth factor 2	gene	DOID:3454	brain infarction		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain	PMID:7770004|REF_RGD_ID:5509999
8797466	Igf2	insulin like growth factor 2	gene	DOID:3594	choriocarcinoma	disease_progression	ISO	RGD:737149	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR	PMID:17556377|REF_RGD_ID:2290454
8797466	Igf2	insulin like growth factor 2	gene	DOID:3827	congenital diaphragmatic hernia	treatment	ISO	RGD:2870	D	RGD:9068941	20200609	RGD			PMID:24352370|REF_RGD_ID:10402563
8797466	Igf2	insulin like growth factor 2	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21521927|PMID:23417626
8797466	Igf2	insulin like growth factor 2	gene	DOID:4752	multiple system atrophy	severity	ISO	RGD:737149	D	RGD:9068941	20200609	RGD			PMID:20683839|REF_RGD_ID:5509960
8797466	Igf2	insulin like growth factor 2	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:737149	D	RGD:9068941	20200609	RGD		associated with non-alcoholic fatty liver disease;protein:decreased expression:plasma	PMID:28650518|REF_RGD_ID:14401722
8797466	Igf2	insulin like growth factor 2	gene	DOID:5572	Beckwith-Wiedemann syndrome		ISO	RGD:38597876|RGD:598199134	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: KCNQ1-related condition	PMID:25741868
8797466	Igf2	insulin like growth factor 2	gene	DOID:5572	Beckwith-Wiedemann syndrome		ISO	RGD:737149	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:8252039|PMID:9349812
8797466	Igf2	insulin like growth factor 2	gene	DOID:635	acquired immunodeficiency syndrome		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:11232005|REF_RGD_ID:5509969
8797466	Igf2	insulin like growth factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2870	D	RGD:9068941	20200609	RGD			PMID:17554210|REF_RGD_ID:2311523
8797466	Igf2	insulin like growth factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12532445|PMID:16092956
8797466	Igf2	insulin like growth factor 2	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:737149	D	RGD:9068941	20200609	RGD		associated with hepatitis B;DNA:SNPs:intron, 3'utr:+2482A>C, +820A>G (human)	PMID:16750516|REF_RGD_ID:14401723
8797466	Igf2	insulin like growth factor 2	gene	DOID:687	hepatoblastoma		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23958494
8797466	Igf2	insulin like growth factor 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		DNA:loss of imprinting:synovial cell	PMID:19556211|REF_RGD_ID:5510001
8797466	Igf2	insulin like growth factor 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:11247331|REF_RGD_ID:5510014
8797466	Igf2	insulin like growth factor 2	gene	DOID:77	gastrointestinal system disease		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:16477536|REF_RGD_ID:5509964
8797466	Igf2	insulin like growth factor 2	gene	DOID:780	placenta disease		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12087403
8797466	Igf2	insulin like growth factor 2	gene	DOID:8398	osteoarthritis		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cartilage	PMID:22527881|REF_RGD_ID:10402552
8797466	Igf2	insulin like growth factor 2	gene	DOID:8488	polyhydramnios		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9349812
8797466	Igf2	insulin like growth factor 2	gene	DOID:8577	ulcerative colitis	disease_progression	ISO	RGD:737149	D	RGD:9068941	20200609	RGD			PMID:16088202|REF_RGD_ID:5509966
8797466	Igf2	insulin like growth factor 2	gene	DOID:9000310	Lung Injury		ISO	RGD:2870	D	RGD:9068941	20200609	RGD			PMID:9160836|REF_RGD_ID:5509974
8797466	Igf2	insulin like growth factor 2	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mammary gland	PMID:18421211|REF_RGD_ID:2292665
8797466	Igf2	insulin like growth factor 2	gene	DOID:9000855	Experimental Radiation Injuries		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:11213353|REF_RGD_ID:5509971
8797466	Igf2	insulin like growth factor 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:10770	D	RGD:9068941	20200609	RGD		associated with Arthritis, Experimental; protein:increased expression:lung, bone, serum:	PMID:21859454|REF_RGD_ID:5510000
8797466	Igf2	insulin like growth factor 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:brain	PMID:11123717|REF_RGD_ID:5509972
8797466	Igf2	insulin like growth factor 2	gene	DOID:9001586	Experimental Liver Neoplasms	treatment	ISO	RGD:2870	D	RGD:9068941	20200609	RGD			PMID:22425635|REF_RGD_ID:10402567
8797466	Igf2	insulin like growth factor 2	gene	DOID:9002163	Silver-Russell Syndrome 3		ISO	RGD:737149	D	RGD:7240710	20180130	OMIM			
8797466	Igf2	insulin like growth factor 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2; mRNA:decreased expression:neural tissue, liver:	PMID:9336345|REF_RGD_ID:5510019
8797466	Igf2	insulin like growth factor 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		associates with Diabetes Mellitus; mRNA:decreased expression:brain:	PMID:8764603|REF_RGD_ID:5510022
8797466	Igf2	insulin like growth factor 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;	PMID:9336345|REF_RGD_ID:5510019
8797466	Igf2	insulin like growth factor 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		mRNA:altered expresssion:liver,placenta:	PMID:1408464|REF_RGD_ID:14985247
8797466	Igf2	insulin like growth factor 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12087403|PMID:16040806
8797466	Igf2	insulin like growth factor 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15057734
8797466	Igf2	insulin like growth factor 2	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24667322
8797466	Igf2	insulin like growth factor 2	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8797466	Igf2	insulin like growth factor 2	gene	DOID:9003676	Brain Hypoxia-Ischemia	disease_progression	ISO	RGD:737149	D	RGD:9068941	20200609	RGD			PMID:16787587|REF_RGD_ID:5510005
8797466	Igf2	insulin like growth factor 2	gene	DOID:9004017	Chronic Hepatitis C	severity	ISO	RGD:737149	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:multiple	PMID:16750516|REF_RGD_ID:14401723
8797466	Igf2	insulin like growth factor 2	gene	DOID:9004914	Postmenopausal Osteoporosis	treatment	ISO	RGD:737149	D	RGD:9068941	20200609	RGD			PMID:16753016|REF_RGD_ID:10402556
8797466	Igf2	insulin like growth factor 2	gene	DOID:9004994	Embryo Loss		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		DNA:methylation: :	PMID:18778817|REF_RGD_ID:5509951
8797466	Igf2	insulin like growth factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:10770	D	RGD:9068941	20200609	RGD		DNA, mRNA:hypermethylation, decreased expression	PMID:18724775|REF_RGD_ID:2311511
8797466	Igf2	insulin like growth factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:10770	D	RGD:9068941	20200609	RGD		protein:increased expression:oviduct	PMID:18676006|REF_RGD_ID:2311502
8797466	Igf2	insulin like growth factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:brain	PMID:10686593|REF_RGD_ID:5509973
8797466	Igf2	insulin like growth factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		protein:increased expression:multiple	PMID:17184497|REF_RGD_ID:2311513
8797466	Igf2	insulin like growth factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:737149	D	RGD:9068941	20200609	RGD			PMID:23364485|REF_RGD_ID:10402565
8797466	Igf2	insulin like growth factor 2	gene	DOID:9005834	Ependymomas		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebellum	PMID:18478565|REF_RGD_ID:5509961
8797466	Igf2	insulin like growth factor 2	gene	DOID:9006257	Growth Disorders		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9349812
8797466	Igf2	insulin like growth factor 2	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		DNA:insertion	PMID:18418699|REF_RGD_ID:2311520
8797466	Igf2	insulin like growth factor 2	gene	DOID:9006925	Hepatic Echinococcosis		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:12927688|REF_RGD_ID:5509967
8797466	Igf2	insulin like growth factor 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12127304
8797466	Igf2	insulin like growth factor 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21270887
8797466	Igf2	insulin like growth factor 2	gene	DOID:9008023	Memory Disorders	treatment	ISO	RGD:2870	D	RGD:9068941	20200609	RGD			PMID:24012657|REF_RGD_ID:10402554
8797466	Igf2	insulin like growth factor 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12637750
8797466	Igf2	insulin like growth factor 2	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10370016
8797466	Igf2	insulin like growth factor 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:10770	D	RGD:9068941	20200609	RGD			PMID:10727441|REF_RGD_ID:5510004
8797466	Igf2	insulin like growth factor 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		protein:decreased expression:pancreas	PMID:17476475|REF_RGD_ID:2311504
8797466	Igf2	insulin like growth factor 2	gene	DOID:9471	meningitis		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:7521338|REF_RGD_ID:5510023
8797466	Igf2	insulin like growth factor 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:thymus	PMID:11307180|REF_RGD_ID:5510007
8797466	Igf2	insulin like growth factor 2	gene	DOID:9970	obesity		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11528401
8797466	Igf2	insulin like growth factor 2	gene	DOID:9993	hypoglycemia		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3185662
8797486	Nelfe	negative elongation factor complex member E	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8797486	Nelfe	negative elongation factor complex member E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8797486	Nelfe	negative elongation factor complex member E	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8797486	Nelfe	negative elongation factor complex member E	gene	DOID:1909	melanoma		ISO	RGD:1344973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8797486	Nelfe	negative elongation factor complex member E	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8797486	Nelfe	negative elongation factor complex member E	gene	DOID:3275	thymoma		ISO	RGD:1344973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8797486	Nelfe	negative elongation factor complex member E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797486	Nelfe	negative elongation factor complex member E	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8797486	Nelfe	negative elongation factor complex member E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8797503	Eri1	exoribonuclease 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8797503	Eri1	exoribonuclease 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8797503	Eri1	exoribonuclease 1	gene	DOID:0080019	metaphyseal dysplasia		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metaphyseal dysplasia	PMID:25741868|PMID:37352860
8797503	Eri1	exoribonuclease 1	gene	DOID:1115	sarcoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8797503	Eri1	exoribonuclease 1	gene	DOID:11193	syndactyly		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndactyly	PMID:25741868|PMID:37352860
8797503	Eri1	exoribonuclease 1	gene	DOID:13938	amenorrhea		ISO	RGD:1605015	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
8797503	Eri1	exoribonuclease 1	gene	DOID:1909	melanoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8797503	Eri1	exoribonuclease 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8797503	Eri1	exoribonuclease 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8797503	Eri1	exoribonuclease 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797503	Eri1	exoribonuclease 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8797503	Eri1	exoribonuclease 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8797503	Eri1	exoribonuclease 1	gene	DOID:9002288	Hoxha-Aliu syndrome		ISO	RGD:1605015	D	RGD:7240710	20240306	OMIM			
8797503	Eri1	exoribonuclease 1	gene	DOID:9002288	Hoxha-Aliu syndrome		ISO	RGD:1605015	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: HOXHA-ALIU SYNDROME | ClinVar Annotator: match by term: Hoxha-Aliu syndrome	PMID:25741868|PMID:36208065|PMID:37352860
8797503	Eri1	exoribonuclease 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8797503	Eri1	exoribonuclease 1	gene	DOID:9005650	Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type		ISO	RGD:1605015	D	RGD:7240710	20240124	OMIM			
8797503	Eri1	exoribonuclease 1	gene	DOID:9005650	Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type		ISO	RGD:1605015	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: ERI1-associated disorder | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Guo-Campeau type	PMID:37352860
8797503	Eri1	exoribonuclease 1	gene	DOID:9005650	Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type		ISO	RGD:1605015	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: ERI1-associated disorder | ClinVar Annotator: match by term: ERI1-related condition | ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Guo-Campeau type	PMID:25741868|PMID:28492532|PMID:37352860
8797503	Eri1	exoribonuclease 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605015	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8797503	Eri1	exoribonuclease 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8797503	Eri1	exoribonuclease 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8797517	Ap3b2	adaptor related protein complex 3 subunit beta 2	gene	DOID:0080448	developmental and epileptic encephalopathy 48		ISO	RGD:1319021	D	RGD:7240710	20190315	OMIM			
8797517	Ap3b2	adaptor related protein complex 3 subunit beta 2	gene	DOID:0080448	developmental and epileptic encephalopathy 48		ISO	RGD:1319021	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: AP3B2-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 48	PMID:25741868|PMID:28492532
8797517	Ap3b2	adaptor related protein complex 3 subunit beta 2	gene	DOID:630	genetic disease		ISO	RGD:1319021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1348499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:10652	Alzheimer's disease		ISO	RGD:62277	D	RGD:9068941	20200609	RGD		DNA: deletion: exons 7,8: heterozygote	PMID:18522748|REF_RGD_ID:5688375
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:10763	hypertension		ISO	RGD:61985	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart left ventricle, kidney (rat)	PMID:26248277|REF_RGD_ID:11535540
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1348499	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26032411
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:1324	lung cancer		ISO	RGD:1348499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:14330	Parkinson's disease		ISO	RGD:1348499	D	RGD:9068941	20200609	RGD		protein: decreased expression: brain	PMID:17125886|REF_RGD_ID:5688384
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:14330	Parkinson's disease		ISO	RGD:61985	D	RGD:9068941	20200609	RGD		protein: decreased expression: brain	PMID:17996024|REF_RGD_ID:5685370
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:14330	Parkinson's disease	no_association	ISO	RGD:1348499	D	RGD:9068941	20211126	RGD		DNA: snps: :rs871196, rs2420616, rs7069375, rs4752293	PMID:21184589|REF_RGD_ID:5688382
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:1909	melanoma		ISO	RGD:1348499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:2320	obstructive lung disease		ISO	RGD:62277	D	RGD:9068941	20200609	RGD			PMID:14565944|REF_RGD_ID:5688385
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:409	liver disease		ISO	RGD:1348499	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:6000	congestive heart failure		ISO	RGD:1348499	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:26248277|REF_RGD_ID:11535540
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:6000	congestive heart failure	severity	ISO	RGD:1348499	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:heart left ventricle (human)	PMID:22685168|REF_RGD_ID:13506835
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:7148	rheumatoid arthritis	no_association	ISO	RGD:1348499	D	RGD:9068941	20200609	RGD		protein: : mononuclear blood cells	PMID:10094932|REF_RGD_ID:5688380
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:7148	rheumatoid arthritis	no_association	ISO	RGD:62277	D	RGD:9068941	20200609	RGD		DNA: deletion::GRK2 and GRK6 deletions resulted in more severe arthritis	PMID:18662895|REF_RGD_ID:5688373
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:9004484	Sepsis		ISO	RGD:1348499	D	RGD:9068941	20200609	RGD		protein: increased expression: neutrophils	PMID:16849637|REF_RGD_ID:5688378
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:9005372	Inflammation		ISO	RGD:62277	D	RGD:9068941	20200609	RGD		DNA: deletions	PMID:20945396|REF_RGD_ID:5688355
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1348499	D	RGD:9068941	20200609	RGD		protein:decreased expression:prefrontal cortex (human)	PMID:23727505|REF_RGD_ID:13792719
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:9006281	Temporomandibular Joint Disorders		ISO	RGD:1348499	D	RGD:9068941	20200609	RGD		DNA: SNP: rs12415832	PMID:22074755|REF_RGD_ID:5688353
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8797552	Grk5	G protein-coupled receptor kinase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8797575	Cldn9	claudin 9	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1319096	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness	PMID:25741868
8797575	Cldn9	claudin 9	gene	DOID:0060744	Pendred syndrome		ISO	RGD:1319096	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Pendred syndrome	PMID:30311386|PMID:35802133|PMID:36633841
8797575	Cldn9	claudin 9	gene	DOID:0112162	autosomal recessive nonsyndromic deafness 116		ISO	RGD:1319096	D	RGD:7240710	20201202	OMIM			
8797575	Cldn9	claudin 9	gene	DOID:0112162	autosomal recessive nonsyndromic deafness 116		ISO	RGD:1319096	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CLDN9-related condition | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 116	PMID:25741868|PMID:31175426
8797575	Cldn9	claudin 9	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319096	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8797575	Cldn9	claudin 9	gene	DOID:9004538	Hearing Loss		ISO	RGD:1319096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:30311386
8797586	Lap3	leucine aminopeptidase 3	gene	DOID:0080600	COVID-19		ISO	RGD:1317491	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8797586	Lap3	leucine aminopeptidase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1317491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8797586	Lap3	leucine aminopeptidase 3	gene	DOID:1324	lung cancer		ISO	RGD:1317491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8797586	Lap3	leucine aminopeptidase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797586	Lap3	leucine aminopeptidase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8797586	Lap3	leucine aminopeptidase 3	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1317491	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8797586	Lap3	leucine aminopeptidase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8797631	Dut	deoxyuridine triphosphatase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8797631	Dut	deoxyuridine triphosphatase	gene	DOID:10534	stomach cancer		ISO	RGD:1349758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8797631	Dut	deoxyuridine triphosphatase	gene	DOID:1909	melanoma		ISO	RGD:1349758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8797631	Dut	deoxyuridine triphosphatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797631	Dut	deoxyuridine triphosphatase	gene	DOID:9002189	High Myopia		ISO	RGD:1349758	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
8797631	Dut	deoxyuridine triphosphatase	gene	DOID:9007502	Brain Neoplasms	severity	ISO	RGD:1349758	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor (human)	PMID:16325515|REF_RGD_ID:5133680
8797631	Dut	deoxyuridine triphosphatase	gene	DOID:9009085	Bone Marrow Failure and Diabetes Mellitus Syndrome		ISO	RGD:1349758	D	RGD:7240710	20221116	OMIM			
8797631	Dut	deoxyuridine triphosphatase	gene	DOID:9009085	Bone Marrow Failure and Diabetes Mellitus Syndrome		ISO	RGD:1349758	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME | ClinVar Annotator: match by term: Bone marrow failure and diabetes mellitus syndrome	PMID:25741868|PMID:28073829|PMID:35611808|PMID:35931051
8797648	Clstn3	calsyntenin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8797648	Clstn3	calsyntenin 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:732033	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
8797648	Clstn3	calsyntenin 3	gene	DOID:10534	stomach cancer		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8797648	Clstn3	calsyntenin 3	gene	DOID:1324	lung cancer		ISO	RGD:732033	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8797648	Clstn3	calsyntenin 3	gene	DOID:1909	melanoma		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8797648	Clstn3	calsyntenin 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8797648	Clstn3	calsyntenin 3	gene	DOID:3275	thymoma		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8797648	Clstn3	calsyntenin 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8797648	Clstn3	calsyntenin 3	gene	DOID:4362	cervical cancer		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8797648	Clstn3	calsyntenin 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8797648	Clstn3	calsyntenin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797648	Clstn3	calsyntenin 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8797648	Clstn3	calsyntenin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8797648	Clstn3	calsyntenin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8797648	Clstn3	calsyntenin 3	gene	DOID:9256	colorectal cancer		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8797676	Pear1	platelet endothelial aggregation receptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1642918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8797676	Pear1	platelet endothelial aggregation receptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1642918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8797676	Pear1	platelet endothelial aggregation receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1642918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8797676	Pear1	platelet endothelial aggregation receptor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1642918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8797676	Pear1	platelet endothelial aggregation receptor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1642918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8797676	Pear1	platelet endothelial aggregation receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1642918	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8797676	Pear1	platelet endothelial aggregation receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1642918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797676	Pear1	platelet endothelial aggregation receptor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1642918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8797676	Pear1	platelet endothelial aggregation receptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1642918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8797676	Pear1	platelet endothelial aggregation receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1642918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8797676	Pear1	platelet endothelial aggregation receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1642918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8797716	Lonrf3	LON peptidase N-terminal domain and ring finger 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8797716	Lonrf3	LON peptidase N-terminal domain and ring finger 3	gene	DOID:10534	stomach cancer		ISO	RGD:1351493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8797716	Lonrf3	LON peptidase N-terminal domain and ring finger 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8797716	Lonrf3	LON peptidase N-terminal domain and ring finger 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8797755	Coch	cochlin	gene	DOID:0110593	autosomal dominant nonsyndromic deafness 9		ISO	RGD:1318365	D	RGD:7240710	20180130	OMIM			
8797755	Coch	cochlin	gene	DOID:0110593	autosomal dominant nonsyndromic deafness 9		ISO	RGD:1318365	D	RGD:8554872	20250723	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 9 | ClinVar Annotator: match by term: COCH-related condition	PMID:16078052|PMID:25741868|PMID:32562050
8797755	Coch	cochlin	gene	DOID:0111644	autosomal recessive nonsyndromic deafness 110		ISO	RGD:1318365	D	RGD:7240710	20200129	OMIM			
8797755	Coch	cochlin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797755	Coch	cochlin	gene	DOID:630	genetic disease		ISO	RGD:1318365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8797755	Coch	cochlin	gene	DOID:9008681	Deafness	susceptibility	ISO	RGD:1318365	D	RGD:9068941	20200609	RGD		deafness, autosomal dominant nonsyndromic sensorineural 9, OMIM:9601369;DNA:missense mutations	PMID:9806553|REF_RGD_ID:1600878
8797777	Htr5a	5-hydroxytryptamine receptor 5A	gene	DOID:10283	prostate cancer		ISO	RGD:735325	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8797777	Htr5a	5-hydroxytryptamine receptor 5A	gene	DOID:12849	autistic disorder		ISO	RGD:735325	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:17203304
8797777	Htr5a	5-hydroxytryptamine receptor 5A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797777	Htr5a	5-hydroxytryptamine receptor 5A	gene	DOID:9428	intracranial hypertension		ISO	RGD:735325	D	RGD:9068941	20230727	RGD		mRNA:increased expression:neocortex,Pyramidal cells (human)	PMID:27487831|REF_RGD_ID:329969876
8797806	Coro1b	coronin 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8797806	Coro1b	coronin 1B	gene	DOID:10534	stomach cancer		ISO	RGD:736068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8797806	Coro1b	coronin 1B	gene	DOID:1115	sarcoma		ISO	RGD:736068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8797806	Coro1b	coronin 1B	gene	DOID:1324	lung cancer		ISO	RGD:736068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8797806	Coro1b	coronin 1B	gene	DOID:1909	melanoma		ISO	RGD:736068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8797806	Coro1b	coronin 1B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8797806	Coro1b	coronin 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:736068	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8797806	Coro1b	coronin 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797806	Coro1b	coronin 1B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8797806	Coro1b	coronin 1B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8797830	Tnfrsf19	TNF receptor superfamily member 19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8797830	Tnfrsf19	TNF receptor superfamily member 19	gene	DOID:10534	stomach cancer		ISO	RGD:1344271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8797830	Tnfrsf19	TNF receptor superfamily member 19	gene	DOID:1909	melanoma		ISO	RGD:1344271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8797830	Tnfrsf19	TNF receptor superfamily member 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1344271	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8797830	Tnfrsf19	TNF receptor superfamily member 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797830	Tnfrsf19	TNF receptor superfamily member 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8797830	Tnfrsf19	TNF receptor superfamily member 19	gene	DOID:9005207	Nasopharyngeal Neoplasms		ISO	RGD:1344271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20512145
8797830	Tnfrsf19	TNF receptor superfamily member 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8797830	Tnfrsf19	TNF receptor superfamily member 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8797851	Dnajc4	DnaJ heat shock protein family (Hsp40) member C4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8797851	Dnajc4	DnaJ heat shock protein family (Hsp40) member C4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8797851	Dnajc4	DnaJ heat shock protein family (Hsp40) member C4	gene	DOID:1115	sarcoma		ISO	RGD:1318614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8797851	Dnajc4	DnaJ heat shock protein family (Hsp40) member C4	gene	DOID:4362	cervical cancer		ISO	RGD:1318614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8797851	Dnajc4	DnaJ heat shock protein family (Hsp40) member C4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8797851	Dnajc4	DnaJ heat shock protein family (Hsp40) member C4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797851	Dnajc4	DnaJ heat shock protein family (Hsp40) member C4	gene	DOID:6039	uveal melanoma		ISO	RGD:1318614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8797851	Dnajc4	DnaJ heat shock protein family (Hsp40) member C4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8797851	Dnajc4	DnaJ heat shock protein family (Hsp40) member C4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8797876	Cog7	component of oligomeric golgi complex 7	gene	DOID:0070257	congenital disorder of glycosylation type IIe		ISO	RGD:1349178	D	RGD:7240710	20180130	OMIM			
8797876	Cog7	component of oligomeric golgi complex 7	gene	DOID:0070257	congenital disorder of glycosylation type IIe		ISO	RGD:1349178	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CDG IIe | ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe	PMID:16199547|PMID:17576681|PMID:19577670|PMID:19763152|PMID:20307669|PMID:21811164|PMID:22406018|PMID:25741868|PMID:25741869|PMID:28492532|PMID:30653653|PMID:31785789|PMID:9536098
8797876	Cog7	component of oligomeric golgi complex 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8797876	Cog7	component of oligomeric golgi complex 7	gene	DOID:1324	lung cancer		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8797876	Cog7	component of oligomeric golgi complex 7	gene	DOID:3275	thymoma		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8797876	Cog7	component of oligomeric golgi complex 7	gene	DOID:4195	hyperglycemia		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperglycemia	PMID:21811164|PMID:28492532
8797876	Cog7	component of oligomeric golgi complex 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1349178	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8797876	Cog7	component of oligomeric golgi complex 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797876	Cog7	component of oligomeric golgi complex 7	gene	DOID:630	genetic disease		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:21811164|PMID:25741868|PMID:28492532|PMID:30653653
8797876	Cog7	component of oligomeric golgi complex 7	gene	DOID:630	genetic disease	susceptibility	ISO	RGD:1349178	D	RGD:9068941	20200609	RGD		congenital disorder of glycosylation, type IIe, OMIM:608779;DNA:transversion:intron:IVS1+4A>C	PMID:15107842|REF_RGD_ID:1600879
8797876	Cog7	component of oligomeric golgi complex 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8797876	Cog7	component of oligomeric golgi complex 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8797907	Ccdc172	coiled-coil domain containing 172	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1346141	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	
8797907	Ccdc172	coiled-coil domain containing 172	gene	DOID:10534	stomach cancer		ISO	RGD:1346141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8797907	Ccdc172	coiled-coil domain containing 172	gene	DOID:1324	lung cancer		ISO	RGD:1346141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8797907	Ccdc172	coiled-coil domain containing 172	gene	DOID:5041	esophageal cancer		ISO	RGD:1346141	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8797907	Ccdc172	coiled-coil domain containing 172	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8797907	Ccdc172	coiled-coil domain containing 172	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:0050746	mantle cell lymphoma		ISO	RGD:733891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18787224
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:0050850	diabetic encephalopathy	treatment	ISO	RGD:70982	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:26970304|REF_RGD_ID:13792771
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:0050861	colorectal adenocarcinoma		ISO	RGD:733891	D	RGD:9068941	20200609	RGD			PMID:21609933|REF_RGD_ID:13210767
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:0050866	oral squamous cell carcinoma	susceptibility	ISO	RGD:733891	D	RGD:9068941	20211217	RGD		DNA:SNP:intron: (rs9879992) (human)	PMID:21393552|REF_RGD_ID:150530486
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:0110729	neuronal ceroid lipofuscinosis 6A		ISO	RGD:733891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23516525
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:10534	stomach cancer		ISO	RGD:733891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:1059	intellectual disability		ISO	RGD:733891	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: intellectual disability	PMID:25741868
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:10652	Alzheimer's disease		ISO	RGD:70982	D	RGD:9068941	20200609	RGD			PMID:22982863|REF_RGD_ID:10045670
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17409235|PMID:22944069
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733891	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:rs334558 (human)	PMID:19154537|REF_RGD_ID:13782364
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733891	D	RGD:9068941	20200609	RGD		DNA:altered methylation:CpG island:	PMID:24101602|REF_RGD_ID:10045668
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733892	D	RGD:9068941	20200609	RGD			PMID:11226152|REF_RGD_ID:1302533
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:70982	D	RGD:9068941	20200609	RGD			PMID:27893738|PMID:29257340|REF_RGD_ID:13792736|REF_RGD_ID:13792777
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:733892	D	RGD:9068941	20200609	RGD			PMID:22623685|REF_RGD_ID:10401801
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:733892	D	RGD:9068941	20200609	RGD		protein:decreased phosphorylation:hippocampus:	PMID:22048123|REF_RGD_ID:10045669
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:10763	hypertension		ISO	RGD:733891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22982863
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:10763	hypertension	treatment	ISO	RGD:70982	D	RGD:9068941	20200609	RGD			PMID:22982863|REF_RGD_ID:10045670
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733891	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:36115647
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:114	heart disease	treatment	ISO	RGD:70982	D	RGD:9068941	20200609	RGD		associated with hypertension	PMID:28440874|REF_RGD_ID:13792734
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:11446	sciatic neuropathy		ISO	RGD:70982	D	RGD:9068941	20200609	RGD			PMID:27125978|REF_RGD_ID:13792740
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:733891	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:1324	lung cancer		ISO	RGD:733891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:14330	Parkinson's disease	treatment	ISO	RGD:70982	D	RGD:9068941	20200609	RGD			PMID:23094836|REF_RGD_ID:10045553
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:1561	cognitive disorder		ISO	RGD:733891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24634145
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:1596	depressive disorder		ISO	RGD:733891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20357757|PMID:20534517
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:70982	D	RGD:9068941	20200609	RGD			PMID:19815943|REF_RGD_ID:10045564
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:1824	status epilepticus	treatment	ISO	RGD:70982	D	RGD:9068941	20200609	RGD			PMID:22761705|REF_RGD_ID:10045560
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:1909	melanoma		ISO	RGD:733891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:219	colon cancer	treatment	ISO	RGD:70982	D	RGD:9068941	20200609	RGD			PMID:22561258|REF_RGD_ID:10045586
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:2871	endometrial carcinoma	severity	ISO	RGD:733891	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium (human)	PMID:27050373|REF_RGD_ID:13524565
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:3021	acute kidney failure		ISO	RGD:733891	D	RGD:9068941	20240808	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:22785175|PMID:38014886
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:303	substance-related disorder	treatment	ISO	RGD:70982	D	RGD:9068941	20200609	RGD			PMID:30188517|REF_RGD_ID:13792724
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:3275	thymoma		ISO	RGD:733891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:3312	bipolar disorder		ISO	RGD:733891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20357757
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:3312	bipolar disorder		ISO	RGD:733891	D	RGD:9068941	20200609	RGD			PMID:16397405|PMID:17357145|REF_RGD_ID:1641929|REF_RGD_ID:1641931
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:733891	D	RGD:9068941	20200609	RGD			PMID:12675919|REF_RGD_ID:2301741
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:70982	D	RGD:9068941	20200609	RGD			PMID:28440874|REF_RGD_ID:13792734
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:4362	cervical cancer		ISO	RGD:733891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:5419	schizophrenia		ISO	RGD:70982	D	RGD:9068941	20200609	RGD		protein:decreased expression,decreased activity:brain:	PMID:12644246|REF_RGD_ID:10045563
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:5419	schizophrenia		ISO	RGD:733891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14745448|PMID:31563592
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:5419	schizophrenia		ISO	RGD:733891	D	RGD:9068941	20200609	RGD			PMID:16397405|REF_RGD_ID:1641931
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:5419	schizophrenia		ISO	RGD:733891	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebrospinal fluid (human)	PMID:15254796|REF_RGD_ID:1358650
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:5419	schizophrenia		ISO	RGD:733891	D	RGD:9068941	20200609	RGD		protein:decreased serine phosphorylation:frontal cortex	PMID:14745448|REF_RGD_ID:1358369
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:5844	myocardial infarction		ISO	RGD:733891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16716347
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:70982	D	RGD:9068941	20200609	RGD			PMID:16565311|REF_RGD_ID:10045368
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:6000	congestive heart failure		ISO	RGD:733891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17901358
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:680	tauopathy		ISO	RGD:733891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26945731
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:767	muscular atrophy		ISO	RGD:733891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18467435
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:8283	peritonitis		ISO	RGD:733891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16713974
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:8725	vascular dementia	treatment	ISO	RGD:70982	D	RGD:9068941	20200609	RGD			PMID:27118553|REF_RGD_ID:13792766
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:90	degenerative disc disease		ISO	RGD:733891	D	RGD:9068941	20200609	RGD			PMID:29393545|REF_RGD_ID:13792726
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9000046	Poisoning		ISO	RGD:733891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22975441
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9000438	Subarachnoid Hemorrhage	treatment	ISO	RGD:70982	D	RGD:9068941	20200609	RGD			PMID:27026509|REF_RGD_ID:13792767
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9000998	Brain Injuries		ISO	RGD:70982	D	RGD:9068941	20200609	RGD			PMID:22643085|REF_RGD_ID:10045646
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9000998	Brain Injuries		ISO	RGD:733891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24675465
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:70982	D	RGD:9068941	20200609	RGD		associated with nonalcoholic fatty liver disease	PMID:28807209|REF_RGD_ID:13792730
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:70982	D	RGD:9068941	20200609	RGD			PMID:26888388|REF_RGD_ID:13792773
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9002245	Intestinal Neoplasms	treatment	ISO	RGD:733892	D	RGD:9068941	20200609	RGD			PMID:24670930|REF_RGD_ID:13210772
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16421604|PMID:25246272
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:733891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16713974
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9002554	Tachycardia	treatment	ISO	RGD:70982	D	RGD:9068941	20200609	RGD			PMID:28446231|REF_RGD_ID:13792733
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9002762	Ovarian Neoplasms	severity	ISO	RGD:733891	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary (human)	PMID:22455883|REF_RGD_ID:13441553
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9002928	Colonic Neoplasms	disease_progression	ISO	RGD:733891	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus	PMID:23389968|REF_RGD_ID:13210769
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9002928	Colonic Neoplasms	treatment	ISO	RGD:733891	D	RGD:9068941	20200609	RGD			PMID:23729362|REF_RGD_ID:13210765
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9003936	Cardiomegaly		ISO	RGD:70982	D	RGD:9068941	20200609	RGD			PMID:19318234|REF_RGD_ID:10045585
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9003936	Cardiomegaly		ISO	RGD:733891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17901358
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9004484	Sepsis		ISO	RGD:70982	D	RGD:9068941	20200609	RGD		protein:decreased phosphorylation,increased activity: :	PMID:20926980|REF_RGD_ID:10045370
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9004673	Hearing Loss, Cisplatin-Induced	treatment	ISO	RGD:733892	D	RGD:9068941	20200609	RGD			PMID:19666099|REF_RGD_ID:10045579
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9005100	Aberrant Crypt Foci	treatment	ISO	RGD:70982	D	RGD:9068941	20200609	RGD			PMID:23554136|REF_RGD_ID:13210771
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:70982	D	RGD:9068941	20200609	RGD			PMID:28810530|REF_RGD_ID:13792729
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:733891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29626521
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:733891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22975441
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9007715	Endometrial Neoplasms	treatment	ISO	RGD:733891	D	RGD:9068941	20200609	RGD		human cells in a mouse xenograft model	PMID:23941783|REF_RGD_ID:13441554
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9007730	Burns		ISO	RGD:70982	D	RGD:9068941	20200609	RGD		protein:increased activity,altered phosphorylation:skeletal muscle:	PMID:17686886|REF_RGD_ID:10045647
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:70982	D	RGD:9068941	20200609	RGD			PMID:20217242|PMID:26918336|PMID:29978610|REF_RGD_ID:13792725|REF_RGD_ID:13792772|REF_RGD_ID:5509104
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9008394	Drug-Induced Dyskinesia	treatment	ISO	RGD:70982	D	RGD:9068941	20200609	RGD		associated with Parkinsonian Disorders	PMID:26997328|REF_RGD_ID:13792768
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733891	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:35639300
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:733892	D	RGD:9068941	20200609	RGD			PMID:20821187|REF_RGD_ID:10045562
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:70982	D	RGD:9068941	20200609	RGD			PMID:27164497|REF_RGD_ID:13792739
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9408	acute myocardial infarction	ameliorates	ISO	RGD:70982	D	RGD:9068941	20230420	RGD			PMID:32068187|REF_RGD_ID:267358468
8797936	Gsk3b	glycogen synthase kinase 3 beta	gene	DOID:9408	acute myocardial infarction	treatment	ISO	RGD:70982	D	RGD:9068941	20200609	RGD			PMID:26591365|REF_RGD_ID:13792778
8797975	Pax9	paired box 9	gene	DOID:0050591	tooth agenesis		ISO	RGD:1352334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypodontia | ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Tooth agenesis, selective | ClinVar Annotator: match by term: oligodontia	PMID:11827258|PMID:12605438|PMID:14571272|PMID:14607846|PMID:15615874|PMID:16199547|PMID:16236760|PMID:16479262|PMID:17576681|PMID:19429910|PMID:22581971|PMID:24436340|PMID:25741868|PMID:26571067|PMID:28166811|PMID:28492532|PMID:28847717|PMID:28910570|PMID:33078491|PMID:35182440|PMID:37056289|PMID:9536098
8797975	Pax9	paired box 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8797975	Pax9	paired box 9	gene	DOID:1205	allergic disease		ISO	RGD:1352334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	
8797975	Pax9	paired box 9	gene	DOID:13714	anodontia		ISO	RGD:1352334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anodontia | ClinVar Annotator: match by term: Hypodontia | ClinVar Annotator: match by term: Partial congenital absence of teeth	PMID:11827258|PMID:12605438|PMID:14571272|PMID:14607846|PMID:15615874|PMID:16199547|PMID:16236760|PMID:16479262|PMID:17576681|PMID:19429910|PMID:22581971|PMID:24436340|PMID:25741868|PMID:26571067|PMID:28166811|PMID:28492532|PMID:28847717|PMID:28910570|PMID:33078491|PMID:35182440|PMID:37056289|PMID:9536098
8797975	Pax9	paired box 9	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1352334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia	
8797975	Pax9	paired box 9	gene	DOID:630	genetic disease		ISO	RGD:1352334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8797975	Pax9	paired box 9	gene	DOID:674	cleft palate		ISO	RGD:733158	D	RGD:9068941	20200609	RGD			PMID:17097601|REF_RGD_ID:12801424
8797975	Pax9	paired box 9	gene	DOID:9001581	Constipation		ISO	RGD:1352334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
8797975	Pax9	paired box 9	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1352334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
8797975	Pax9	paired box 9	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1352334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
8797975	Pax9	paired box 9	gene	DOID:9007839	Selective Tooth Agenesis 3		ISO	RGD:1352334	D	RGD:7240710	20180130	OMIM			
8797975	Pax9	paired box 9	gene	DOID:9007839	Selective Tooth Agenesis 3		ISO	RGD:1352334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPODONTIA/OLIGODONTIA 3 | ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 3 | ClinVar Annotator: match by term: Tooth agenesis, selective, 3	PMID:12605438|PMID:12786960|PMID:14571272|PMID:16479262|PMID:18414213|PMID:19429910|PMID:25741868|PMID:28492532|PMID:28910570|PMID:29023497|PMID:30417976|PMID:35897718|PMID:36071541
8797975	Pax9	paired box 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8797993	Dact2	dishevelled binding antagonist of beta catenin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8797993	Dact2	dishevelled binding antagonist of beta catenin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8797993	Dact2	dishevelled binding antagonist of beta catenin 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1321823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25058030
8798004	Pth2r	parathyroid hormone 2 receptor	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:730965	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Syndromic Intellectual Disability	
8798004	Pth2r	parathyroid hormone 2 receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8798004	Pth2r	parathyroid hormone 2 receptor	gene	DOID:3275	thymoma		ISO	RGD:730965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8798004	Pth2r	parathyroid hormone 2 receptor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:730965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8798004	Pth2r	parathyroid hormone 2 receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798004	Pth2r	parathyroid hormone 2 receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798004	Pth2r	parathyroid hormone 2 receptor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:730965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8798004	Pth2r	parathyroid hormone 2 receptor	gene	DOID:9256	colorectal cancer		ISO	RGD:730965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8798030	Rps21	ribosomal protein S21	gene	DOID:10534	stomach cancer		ISO	RGD:1348628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8798030	Rps21	ribosomal protein S21	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8798030	Rps21	ribosomal protein S21	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1348628	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
8798030	Rps21	ribosomal protein S21	gene	DOID:1909	melanoma		ISO	RGD:1348628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8798030	Rps21	ribosomal protein S21	gene	DOID:3070	high grade glioma		ISO	RGD:1348628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8798030	Rps21	ribosomal protein S21	gene	DOID:4362	cervical cancer		ISO	RGD:1348628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8798030	Rps21	ribosomal protein S21	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8798030	Rps21	ribosomal protein S21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798030	Rps21	ribosomal protein S21	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1348628	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8798030	Rps21	ribosomal protein S21	gene	DOID:9000918	Disease Progression		ISO	RGD:1348628	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8798051	Abcd2	ATP binding cassette subfamily D member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8798051	Abcd2	ATP binding cassette subfamily D member 2	gene	DOID:1324	lung cancer		ISO	RGD:730967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8798051	Abcd2	ATP binding cassette subfamily D member 2	gene	DOID:1459	hypothyroidism	treatment	ISO	RGD:730968	D	RGD:9068941	20200609	RGD			PMID:28200172|REF_RGD_ID:13673918
8798051	Abcd2	ATP binding cassette subfamily D member 2	gene	DOID:1909	melanoma		ISO	RGD:730967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8798051	Abcd2	ATP binding cassette subfamily D member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:730967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8798051	Abcd2	ATP binding cassette subfamily D member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798051	Abcd2	ATP binding cassette subfamily D member 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:730967	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
8798051	Abcd2	ATP binding cassette subfamily D member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8798068	Pde6g	phosphodiesterase 6G	gene	DOID:0110407	retinitis pigmentosa 57		ISO	RGD:735391	D	RGD:7240710	20180130	OMIM			
8798068	Pde6g	phosphodiesterase 6G	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:735391	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:28492532
8798068	Pde6g	phosphodiesterase 6G	gene	DOID:8501	fundus dystrophy		ISO	RGD:735391	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532|PMID:36819107
8798081	Fetub	fetuin B	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1348659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8798107	Rinl	Ras and Rab interactor like	gene	DOID:10534	stomach cancer		ISO	RGD:1602985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8798107	Rinl	Ras and Rab interactor like	gene	DOID:1115	sarcoma		ISO	RGD:1602985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8798107	Rinl	Ras and Rab interactor like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798107	Rinl	Ras and Rab interactor like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798141	Dhx8	DEAH-box helicase 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8798141	Dhx8	DEAH-box helicase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8798141	Dhx8	DEAH-box helicase 8	gene	DOID:10534	stomach cancer		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8798141	Dhx8	DEAH-box helicase 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8798141	Dhx8	DEAH-box helicase 8	gene	DOID:1115	sarcoma		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8798141	Dhx8	DEAH-box helicase 8	gene	DOID:1324	lung cancer		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8798141	Dhx8	DEAH-box helicase 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8798141	Dhx8	DEAH-box helicase 8	gene	DOID:3275	thymoma		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8798141	Dhx8	DEAH-box helicase 8	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8798141	Dhx8	DEAH-box helicase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798141	Dhx8	DEAH-box helicase 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8798141	Dhx8	DEAH-box helicase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798141	Dhx8	DEAH-box helicase 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8798141	Dhx8	DEAH-box helicase 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:0060058	lymphoma		ISO	RGD:1313818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:0060448	Fleck corneal dystrophy		ISO	RGD:1313818	D	RGD:7240710	20180130	OMIM			
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:0060448	Fleck corneal dystrophy		ISO	RGD:1313818	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FLECK CORNEAL DYSTROPHY | ClinVar Annotator: match by term: Fleck corneal dystrophy | ClinVar Annotator: match by term: PIKFYVE-related condition | ClinVar Annotator: match by term: fleck corneal dystrophy	PMID:15902656|PMID:25741868|PMID:28492532
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:10534	stomach cancer		ISO	RGD:1313818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:1909	melanoma		ISO	RGD:1313818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:3070	high grade glioma		ISO	RGD:1313818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:3275	thymoma		ISO	RGD:1313818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:4362	cervical cancer		ISO	RGD:1313818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1313818	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:630	genetic disease		ISO	RGD:1313818	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:8778	Crohn's disease		ISO	RGD:1313819	D	RGD:9068941	20220825	MouseDO			
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8798180	Pikfyve	phosphoinositide kinase, FYVE-type zinc finger containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8798244	Ndufaf3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:0060058	lymphoma		ISO	RGD:1601767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8798244	Ndufaf3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1601767	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency	PMID:19463981|PMID:24033266|PMID:25741868|PMID:28492532
8798244	Ndufaf3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:0080600	COVID-19		ISO	RGD:1601767	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8798244	Ndufaf3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:0112070	nuclear type mitochondrial complex I deficiency 18		ISO	RGD:1601767	D	RGD:7240710	20190315	OMIM			
8798244	Ndufaf3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:0112070	nuclear type mitochondrial complex I deficiency 18		ISO	RGD:1601767	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 18	PMID:25741868|PMID:27986404|PMID:28492532|PMID:34656053
8798244	Ndufaf3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1601767	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:25741868|PMID:28492532
8798244	Ndufaf3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:12849	autistic disorder		ISO	RGD:1601767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:34656053
8798244	Ndufaf3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8798244	Ndufaf3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1601767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8798244	Ndufaf3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8798244	Ndufaf3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798244	Ndufaf3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:630	genetic disease		ISO	RGD:1601767	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:34656053
8798244	Ndufaf3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1601767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8798244	Ndufaf3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:0051064	left ventricular failure		ISO	RGD:734431	D	RGD:9068941	20260305	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:29353218|PMID:40885409
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:0060180	colitis	treatment	ISO	RGD:734432	D	RGD:9068941	20210312	RGD			PMID:30142311|REF_RGD_ID:42724458
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:0070658	alcohol-associated liver disease	severity	ISO	RGD:734431	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:rs35652124(human)	PMID:31340446|REF_RGD_ID:21201311
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:0070658	alcohol-associated liver disease	treatment	ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:31906014|REF_RGD_ID:21201307
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:0070747	immunodeficiency, developmental delay, and hypohomocysteinemia		ISO	RGD:734431	D	RGD:7240710	20190315	OMIM			
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:0070747	immunodeficiency, developmental delay, and hypohomocysteinemia		ISO	RGD:734431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA | ClinVar Annotator: match by term: Immunodeficiency, developmental delay, and hypohomocysteinemia | ClinVar Annotator: match by term: NFE2L2-related condition | ClinVar Annotator: match by term: immunodeficiency, developmental delay, and hypohomocysteinemia	PMID:24130096|PMID:25741868|PMID:28492532|PMID:29018201|PMID:31107239
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25294219
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:23592516|REF_RGD_ID:10412712
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:25385666|REF_RGD_ID:21201312
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:0081292	traumatic brain injury		ISO	RGD:620360	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:30855558|REF_RGD_ID:26884463
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:10247	pleurisy		ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:14673141|REF_RGD_ID:6893408
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:734431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:10603	glucose intolerance		ISO	RGD:734431	D	RGD:9068941	20240404	CTD		CTD Direct Evidence: therapeutic	PMID:33933676
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:734432	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, nucleus	PMID:23771816|REF_RGD_ID:10412683
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:734431	D	RGD:9068941	20200609	RGD		DNA:snps, haplotype:5' utr, intron:multiple (human)	PMID:20064547|REF_RGD_ID:6893326
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:22913737|REF_RGD_ID:10412685
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:734431	D	RGD:9068941	20200609	RGD			PMID:19805328|REF_RGD_ID:10412689
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:10763	hypertension		ISO	RGD:734431	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:32165127
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:10763	hypertension	treatment	ISO	RGD:620360	D	RGD:9068941	20230817	RGD			PMID:23528973|PMID:23775684|REF_RGD_ID:10412717|REF_RGD_ID:401793732
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:10923	sickle cell anemia		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29255069
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026087
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:12306	vitiligo		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28836394
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:12858	Huntington's disease		ISO	RGD:620360	D	RGD:9068941	20200609	RGD		mRNA:increased expression:striatum	PMID:24008671|REF_RGD_ID:10412688
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:1324	lung cancer		ISO	RGD:734431	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:13580	cholestasis		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20977460
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026087
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:13619	extrahepatic cholestasis	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:31900718|REF_RGD_ID:21201303
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:734431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:18757741|PMID:23936606|PMID:24366543|PMID:25135868|PMID:29615460|PMID:30150714|PMID:34069882|PMID:35101336
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:161	keratosis		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20404090
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18572023
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:28	endocrine system disease		ISO	RGD:734431	D	RGD:9068941	20241205	CTD		CTD Direct Evidence: marker/mechanism	PMID:38043716
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:2841	asthma	severity	ISO	RGD:734431	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bronchoalveolar lavage cell, peripheral blood mononuclear cell (human)	PMID:21514635|REF_RGD_ID:6893376
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:3021	acute kidney failure		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24958931
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:24291173|REF_RGD_ID:10412697
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23564646
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:620360	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:22737924|REF_RGD_ID:10412732
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:734431	D	RGD:9068941	20260430	RGD		associated with smoking habit; DNA:SNP: :c.-1946A>G (rs35652124)	PMID:30641209|REF_RGD_ID:645238739
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:734431	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:primary motor cortex, spinal cord (human)	PMID:18957896|REF_RGD_ID:6893397
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:734431	D	RGD:9068941	20210604	CTD		CTD Direct Evidence: therapeutic	PMID:27012417
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:332	amyotrophic lateral sclerosis	treatment	ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:22056419|REF_RGD_ID:10412690
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:23880501|PMID:24466583|REF_RGD_ID:10412696|REF_RGD_ID:10412714
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21489257
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:3602	toxic encephalopathy		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20211941
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151357
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:19138753|REF_RGD_ID:6893396
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23570914
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:734431	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:22684020|PMID:26482881|PMID:33148531
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:399	tuberculosis	treatment	ISO	RGD:734431	D	RGD:9068941	20210305	RGD		DNA:SNPs,haplotype: :rs4243387,rs2001350,rs6726395(human)	PMID:31586142|REF_RGD_ID:42722614
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:4195	hyperglycemia		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20086057
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:4448	macular degeneration		ISO	RGD:734431	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype:intron:28312647A>G (rs6726395) (human)	PMID:23276910|REF_RGD_ID:7771558
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:4448	macular degeneration		ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:21559389|REF_RGD_ID:10412682
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:734431	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Renal adenocarcinoma	PMID:26619011
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:734431	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:734431	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:23793039|PMID:39938575
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:5082	liver cirrhosis	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:22732220|REF_RGD_ID:10412731
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26247513
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:557	kidney disease		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20605904
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:5844	myocardial infarction		ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:24915518|REF_RGD_ID:10412738
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:23290949|REF_RGD_ID:10412734
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:6000	congestive heart failure		ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:29373037|REF_RGD_ID:26923905
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:6000	congestive heart failure		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:28373008
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734431	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561517
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734431	D	RGD:9068941	20250109	RGD			PMID:31546024|REF_RGD_ID:21201310
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:77	gastrointestinal system disease		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20404090
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:784	chronic kidney disease	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:23174956|REF_RGD_ID:10412711
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:83	cataract	disease_progression	ISO	RGD:734431	D	RGD:9068941	20200609	RGD		DNA:snps, haplotype:5' utr, intron:multiple (human)	PMID:20064547|REF_RGD_ID:6893326
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:850	lung disease		ISO	RGD:734431	D	RGD:9068941	20250306	CTD		CTD Direct Evidence: marker/mechanism	PMID:39038764
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:850	lung disease		ISO	RGD:734432	D	RGD:9068941	20200609	RGD		acute lung injury associated with brain injuries	PMID:19176347|REF_RGD_ID:5134977
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:8704	genital herpes	ameliorates	ISO	RGD:734432	D	RGD:9068941	20210305	RGD			PMID:31555293|REF_RGD_ID:42722615
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:8947	diabetic retinopathy		ISO	RGD:620360	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:decreased activity:retina	PMID:23633659|REF_RGD_ID:10412733
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:24747453|REF_RGD_ID:10412730
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9000041	Fetal Weight		ISO	RGD:734431	D	RGD:9068941	20250206	CTD		CTD Direct Evidence: marker/mechanism	PMID:35204234
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:22350949|REF_RGD_ID:10412739
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9000352	Vascular System Injuries		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19234301
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9000438	Subarachnoid Hemorrhage	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:22304528|REF_RGD_ID:10412722
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9000918	Disease Progression		ISO	RGD:734431	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32621833
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:734431	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32682831
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:25089700|REF_RGD_ID:11576302
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:620360	D	RGD:9068941	20200609	RGD		protein:increased expression:lung:	PMID:18787991|REF_RGD_ID:5134971
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23341968
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9001614	Chronic Tubulointerstitial Nephropathy		ISO	RGD:620360	D	RGD:9068941	20200609	RGD		protein:decreased localization:nucleus	PMID:23512109|REF_RGD_ID:10412728
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9001916	Fetal Death		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29255069
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:22288937|PMID:31952110|REF_RGD_ID:10403073|REF_RGD_ID:21201304
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:21439372|REF_RGD_ID:6893386
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20103708
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:23064900|REF_RGD_ID:10412718
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9002221	Hyperplasia		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19234301
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:620360	D	RGD:9068941	20200609	RGD		protein:decreased expression:placenta	PMID:25171874|REF_RGD_ID:26884462
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:734431	D	RGD:9068941	20200609	RGD		protein:decreased expression:placenta	PMID:25171874|REF_RGD_ID:26884462
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9002231	Fetal Growth Retardation	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:23910525|REF_RGD_ID:10412716
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20124447|PMID:23441843
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9002644	Premature Aging	treatment	ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:19443193|REF_RGD_ID:10412691
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9002720	Splenomegaly		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29255069
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19910389
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9002802	Acidoses		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29618784
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9002884	Emphysema		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20133372
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9003139	Cardiac Fibrosis	treatment	ISO	RGD:620360	D	RGD:9068941	20230817	RGD			PMID:23528973|REF_RGD_ID:401793732
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9003386	Sunburn		ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:18200051|REF_RGD_ID:6893371
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:620360	D	RGD:9068941	20230817	RGD			PMID:23528973|REF_RGD_ID:401793732
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9003996	Birth Weight		ISO	RGD:734431	D	RGD:9068941	20250306	CTD		CTD Direct Evidence: marker/mechanism	PMID:39038764
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9004203	Chromosome Breakage		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27774770
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9004250	Hepatic Insufficiency		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026087
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:734431	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18572023
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:734431	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32682831
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24812154
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9004634	Cardiac Output, Low		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30096613
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9004657	Weight Gain		ISO	RGD:734431	D	RGD:9068941	20250206	CTD		CTD Direct Evidence: marker/mechanism	PMID:35204086
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:734431	D	RGD:9068941	20231005	CTD		CTD Direct Evidence: marker/mechanism	PMID:31227482
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:22072621|REF_RGD_ID:10412719
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026087
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:32105670|REF_RGD_ID:21201282
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620360	D	RGD:9068941	20200609	RGD		protein:increased localization:blood, mononuclear cell, nucleus	PMID:23331247|REF_RGD_ID:7244270
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:22869588|REF_RGD_ID:10412694
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:24740568|REF_RGD_ID:10412720
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9005749	Necrosis		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24813929
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:620360	D	RGD:9068941	20210305	RGD			PMID:26646455|REF_RGD_ID:42722616
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9006205	Animal Disease Models		ISO	RGD:734431	D	RGD:9068941	20210604	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:27012417|PMID:29255069
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:620360	D	RGD:9068941	20230128	RGD			PMID:31089916|REF_RGD_ID:155882543
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27774770
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20605904
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9006945	Diabetic Cardiomyopathies	ameliorates	ISO	RGD:734432	D	RGD:9068941	20230302	RGD			PMID:36044268|REF_RGD_ID:156430337
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9006945	Diabetic Cardiomyopathies	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:23453443|REF_RGD_ID:10412713
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9006945	Diabetic Cardiomyopathies	treatment	ISO	RGD:734432	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:23353773|REF_RGD_ID:10412721
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9007090	Experimental Seizures		ISO	RGD:734432	D	RGD:9068941	20241205	RGD			PMID:24333359|REF_RGD_ID:10412723
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9007090	Experimental Seizures	treatment	ISO	RGD:620360	D	RGD:9068941	20241205	RGD			PMID:24333359|REF_RGD_ID:10412723
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:29353218
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:734431	D	RGD:9068941	20240404	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:20722399|PMID:35523338
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22491424|PMID:22627062|PMID:24813929|PMID:26958860|PMID:30215777
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:18417483|REF_RGD_ID:6893370
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:29091898|PMID:31972209|PMID:32066295|REF_RGD_ID:15090820|REF_RGD_ID:21201280|REF_RGD_ID:21201283
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD		induced by methotrexate (CHEBI:44185), treated by ferulic acid (CHEBI:17620)	PMID:31889292|REF_RGD_ID:21201308
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:29091898|PMID:31927046|REF_RGD_ID:15090820|REF_RGD_ID:21201305
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:734431	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: therapeutic	PMID:35124418
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:734431	D	RGD:9068941	20200609	RGD		associated with  obesity; protein:decreased expression:hepatocyte:	PMID:32102936|REF_RGD_ID:21201281
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:734431	D	RGD:9068941	20240404	CTD		CTD Direct Evidence: therapeutic	PMID:33933676
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9007702	Carcinogenesis		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29228771
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20530669
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:24915518|REF_RGD_ID:10412738
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:734431	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32621833
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9146	visceral leishmaniasis	treatment	ISO	RGD:734431	D	RGD:9068941	20210312	RGD			PMID:23729024|REF_RGD_ID:42724459
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9256	colorectal cancer		ISO	RGD:734431	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12	PMID:29018201
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:22859375|REF_RGD_ID:10412740
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:23954466|REF_RGD_ID:10412692
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9452	steatotic liver disease		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28555106
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9452	steatotic liver disease		ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:22367278|REF_RGD_ID:6893372
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9675	pulmonary emphysema		ISO	RGD:734431	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung:	PMID:18559366|REF_RGD_ID:5134973
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9970	obesity		ISO	RGD:734431	D	RGD:9068941	20200609	RGD		protein:decreased expression:hepatocyte:	PMID:32102936|REF_RGD_ID:21201281
8798257	Nfe2l2	NFE2 like bZIP transcription factor 2	gene	DOID:9970	obesity		ISO	RGD:734432	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver macrophage:	PMID:32102936|REF_RGD_ID:21201281
8798281	Slc19a3	solute carrier family 19 member 3	gene	DOID:0050659	biotin-responsive basal ganglia disease		ISO	RGD:1322863	D	RGD:7240710	20180130	OMIM			
8798281	Slc19a3	solute carrier family 19 member 3	gene	DOID:0050659	biotin-responsive basal ganglia disease		ISO	RGD:1322863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE | ClinVar Annotator: match by term: Biotin-responsive basal ganglia disease | ClinVar Annotator: match by term: Biotin-thiamine-responsive basal ganglia disease | ClinVar Annotator: match by term: thiamine-responsive encephalopathy	PMID:15871139|PMID:16199547|PMID:16790503|PMID:17576681|PMID:20065143|PMID:22777947|PMID:23423671|PMID:23482991|PMID:23589815|PMID:23742248|PMID:24099834|PMID:24166474|PMID:24372704|PMID:24667528|PMID:24957181|PMID:25741868|PMID:26077850|PMID:26443248|PMID:26467025|PMID:26657515|PMID:26863430|PMID:26938784|PMID:26975589|PMID:27290639|PMID:27629047|PMID:27749535|PMID:27841215|PMID:27896110|PMID:27905264|PMID:28402605|PMID:28492532|PMID:28518168|PMID:28671688|PMID:28677371|PMID:28696212|PMID:28856750|PMID:29101630|PMID:29287834|PMID:31061755|PMID:31130284|PMID:31967322|PMID:32020600|PMID:32034746|PMID:32461654|PMID:32600842|PMID:32679198|PMID:34077649|PMID:34276785|PMID:34302356|PMID:34490615|PMID:34631424|PMID:34992632|PMID:35094435|PMID:36175418|PMID:36544340|PMID:36657988|PMID:37597066|PMID:37628588|PMID:37645600|PMID:37670342|PMID:38053933|PMID:38129218|PMID:38279250|PMID:38703036|PMID:40336053|PMID:9536098
8798281	Slc19a3	solute carrier family 19 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8798281	Slc19a3	solute carrier family 19 member 3	gene	DOID:0111253	neurofibromatosis 1		ISO	RGD:1322863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurofibromatosis, type 1	PMID:23423671|PMID:23482991|PMID:25741868|PMID:28492532|PMID:32020600|PMID:32600842|PMID:34077649|PMID:34490615
8798281	Slc19a3	solute carrier family 19 member 3	gene	DOID:12849	autistic disorder		ISO	RGD:1322863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:23423671|PMID:23482991|PMID:25741868|PMID:28492532|PMID:32020600|PMID:32600842|PMID:34077649|PMID:34490615
8798281	Slc19a3	solute carrier family 19 member 3	gene	DOID:1324	lung cancer		ISO	RGD:1322863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8798281	Slc19a3	solute carrier family 19 member 3	gene	DOID:1826	epilepsy		ISO	RGD:1322863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26863430|PMID:26938784|PMID:28492532|PMID:34631424
8798281	Slc19a3	solute carrier family 19 member 3	gene	DOID:3070	high grade glioma		ISO	RGD:1322863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8798281	Slc19a3	solute carrier family 19 member 3	gene	DOID:3652	Leigh disease		ISO	RGD:12390482	D	RGD:9068941	20250116	OMIA		Necrotising encephalopathy, subacute, of Leigh	PMID:10664957|PMID:10912920|PMID:19466433|PMID:23469184|PMID:25117056|PMID:33081289|PMID:34544496|PMID:38003185|PMID:8844603
8798281	Slc19a3	solute carrier family 19 member 3	gene	DOID:543	dystonia		ISO	RGD:1322863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:28492532
8798281	Slc19a3	solute carrier family 19 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798281	Slc19a3	solute carrier family 19 member 3	gene	DOID:630	genetic disease		ISO	RGD:1322863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15871139|PMID:23423671|PMID:23482991|PMID:23742248|PMID:24166474|PMID:25741868|PMID:27629047|PMID:27749535|PMID:27905264|PMID:28402605|PMID:28492532|PMID:28518168|PMID:32461654
8798281	Slc19a3	solute carrier family 19 member 3	gene	DOID:679	basal ganglia disease		ISO	RGD:1322863	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19387023
8798281	Slc19a3	solute carrier family 19 member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8798281	Slc19a3	solute carrier family 19 member 3	gene	DOID:784	chronic kidney disease		ISO	RGD:1311413	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver, heart, jejunum (rat)	PMID:21149507|REF_RGD_ID:7327184
8798281	Slc19a3	solute carrier family 19 member 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:23423671|PMID:23482991|PMID:24957181|PMID:25741868|PMID:26863430|PMID:26938784|PMID:28492532|PMID:34631424
8798281	Slc19a3	solute carrier family 19 member 3	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1322863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip dislocation	PMID:25741868|PMID:28492532
8798281	Slc19a3	solute carrier family 19 member 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23423671|PMID:23482991|PMID:24957181|PMID:25741868|PMID:26863430|PMID:26938784|PMID:28492532|PMID:34631424
8798305	Prnd	prion like protein doppel	gene	DOID:10534	stomach cancer		ISO	RGD:1315338	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8798305	Prnd	prion like protein doppel	gene	DOID:3275	thymoma		ISO	RGD:1315338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8798305	Prnd	prion like protein doppel	gene	DOID:4362	cervical cancer		ISO	RGD:1315338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8798305	Prnd	prion like protein doppel	gene	DOID:5041	esophageal cancer		ISO	RGD:1315338	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8798305	Prnd	prion like protein doppel	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798305	Prnd	prion like protein doppel	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8798320	Lrrc8b	leucine rich repeat containing 8 VRAC subunit B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606820	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8798320	Lrrc8b	leucine rich repeat containing 8 VRAC subunit B	gene	DOID:3070	high grade glioma		ISO	RGD:1606820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8798320	Lrrc8b	leucine rich repeat containing 8 VRAC subunit B	gene	DOID:4362	cervical cancer		ISO	RGD:1606820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8798320	Lrrc8b	leucine rich repeat containing 8 VRAC subunit B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798320	Lrrc8b	leucine rich repeat containing 8 VRAC subunit B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8798337	Rnf139	ring finger protein 139	gene	DOID:1909	melanoma		ISO	RGD:1315417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8798337	Rnf139	ring finger protein 139	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1315417	D	RGD:7240710	20180130	OMIM			
8798337	Rnf139	ring finger protein 139	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798355	Trim29	tripartite motif containing 29	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8798355	Trim29	tripartite motif containing 29	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8798355	Trim29	tripartite motif containing 29	gene	DOID:3070	high grade glioma		ISO	RGD:1317296	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30929997
8798355	Trim29	tripartite motif containing 29	gene	DOID:5041	esophageal cancer		ISO	RGD:1317296	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8798355	Trim29	tripartite motif containing 29	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798355	Trim29	tripartite motif containing 29	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798371	Ap3m2	adaptor related protein complex 3 subunit mu 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8798371	Ap3m2	adaptor related protein complex 3 subunit mu 2	gene	DOID:10534	stomach cancer		ISO	RGD:735940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8798371	Ap3m2	adaptor related protein complex 3 subunit mu 2	gene	DOID:1324	lung cancer		ISO	RGD:735940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8798371	Ap3m2	adaptor related protein complex 3 subunit mu 2	gene	DOID:1909	melanoma		ISO	RGD:735940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8798371	Ap3m2	adaptor related protein complex 3 subunit mu 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8798371	Ap3m2	adaptor related protein complex 3 subunit mu 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798371	Ap3m2	adaptor related protein complex 3 subunit mu 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798371	Ap3m2	adaptor related protein complex 3 subunit mu 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8798371	Ap3m2	adaptor related protein complex 3 subunit mu 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8798402	Il15	interleukin 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8798402	Il15	interleukin 15	gene	DOID:0060496	respiratory allergy		ISO	RGD:737535	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18394133
8798402	Il15	interleukin 15	gene	DOID:10247	pleurisy		ISO	RGD:737535	D	RGD:9068941	20200609	RGD			PMID:10823416|REF_RGD_ID:4990464
8798402	Il15	interleukin 15	gene	DOID:10533	viral pneumonia		ISO	RGD:10786	D	RGD:9068941	20200609	RGD			PMID:20335267|REF_RGD_ID:4892670
8798402	Il15	interleukin 15	gene	DOID:10608	celiac disease		ISO	RGD:737535	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23269601
8798402	Il15	interleukin 15	gene	DOID:11162	respiratory failure		ISO	RGD:737535	D	RGD:9068941	20200609	RGD		associated with Influenza	PMID:20003352|REF_RGD_ID:4888530
8798402	Il15	interleukin 15	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:737535	D	RGD:9068941	20200609	RGD		associated with Influenza;protein:increased expression:serum	PMID:21062445|REF_RGD_ID:5128683
8798402	Il15	interleukin 15	gene	DOID:11573	listeriosis		ISO	RGD:2887	D	RGD:9068941	20200609	RGD		protein:increased expression:epithelial cell, intestine	PMID:9826341|REF_RGD_ID:1626618
8798402	Il15	interleukin 15	gene	DOID:11716	prediabetes syndrome		ISO	RGD:10786	D	RGD:9068941	20200609	RGD			PMID:11832994|REF_RGD_ID:2313578
8798402	Il15	interleukin 15	gene	DOID:12849	autistic disorder		ISO	RGD:737535	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18929414
8798402	Il15	interleukin 15	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:737535	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:11742275|REF_RGD_ID:4990461
8798402	Il15	interleukin 15	gene	DOID:13564	aspergillosis		ISO	RGD:737535	D	RGD:9068941	20200609	RGD		DNA:polymorphism (human)	PMID:16893395|REF_RGD_ID:4981337
8798402	Il15	interleukin 15	gene	DOID:178	vascular disease		ISO	RGD:10786	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:carotid artery	PMID:16321364|REF_RGD_ID:1626609
8798402	Il15	interleukin 15	gene	DOID:1909	melanoma		ISO	RGD:737535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8798402	Il15	interleukin 15	gene	DOID:2349	arteriosclerosis		ISO	RGD:10786	D	RGD:9068941	20200609	RGD		mRNA:increased expression:macrophage, aorta	PMID:11485899|REF_RGD_ID:1626612
8798402	Il15	interleukin 15	gene	DOID:2349	arteriosclerosis		ISO	RGD:737535	D	RGD:9068941	20200609	RGD		mRNA:increased expression:carotid	PMID:11485899|REF_RGD_ID:1626612
8798402	Il15	interleukin 15	gene	DOID:2841	asthma		ISO	RGD:10786	D	RGD:9068941	20200609	RGD			PMID:11160248|PMID:15843549|REF_RGD_ID:4990462|REF_RGD_ID:5000757
8798402	Il15	interleukin 15	gene	DOID:2841	asthma		ISO	RGD:737535	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple (human)	PMID:15131572|PMID:16629787|REF_RGD_ID:4984421|REF_RGD_ID:5000758
8798402	Il15	interleukin 15	gene	DOID:2841	asthma	no_association	ISO	RGD:737535	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple (human)	PMID:19133918|REF_RGD_ID:5000760
8798402	Il15	interleukin 15	gene	DOID:289	endometriosis		ISO	RGD:737535	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
8798402	Il15	interleukin 15	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:737535	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:11742275|REF_RGD_ID:4990461
8798402	Il15	interleukin 15	gene	DOID:3388	periodontal disease		ISO	RGD:2887	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:B cell	PMID:20618701|REF_RGD_ID:5024938
8798402	Il15	interleukin 15	gene	DOID:3393	coronary artery disease		ISO	RGD:737535	D	RGD:9068941	20200609	RGD		associated with Hypertension;protein:increased expression:serum	PMID:16109314|REF_RGD_ID:1626610
8798402	Il15	interleukin 15	gene	DOID:3454	brain infarction		ISO	RGD:737535	D	RGD:9068941	20200609	RGD		associated with Hypertension;protein:increased expression:serum	PMID:16109314|REF_RGD_ID:1626610
8798402	Il15	interleukin 15	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:737535	D	RGD:9068941	20200609	RGD			PMID:21309737|REF_RGD_ID:5147438
8798402	Il15	interleukin 15	gene	DOID:399	tuberculosis		ISO	RGD:10786	D	RGD:9068941	20200609	RGD		mRNA:altered expression:lung, spleen	PMID:16367949|REF_RGD_ID:4987456
8798402	Il15	interleukin 15	gene	DOID:4362	cervical cancer		ISO	RGD:737535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8798402	Il15	interleukin 15	gene	DOID:4483	rhinitis		ISO	RGD:10786	D	RGD:9068941	20200609	RGD			PMID:16750998|REF_RGD_ID:5000756
8798402	Il15	interleukin 15	gene	DOID:4989	pancreatitis		ISO	RGD:2887	D	RGD:9068941	20200609	RGD			PMID:20332642|REF_RGD_ID:4892671
8798402	Il15	interleukin 15	gene	DOID:5041	esophageal cancer		ISO	RGD:737535	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8798402	Il15	interleukin 15	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:737535	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:20028198|REF_RGD_ID:4892672
8798402	Il15	interleukin 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798402	Il15	interleukin 15	gene	DOID:850	lung disease		ISO	RGD:737535	D	RGD:9068941	20200609	RGD		associated with Scleroderma, Systemic;protein:increased expression:serum	PMID:17784951|REF_RGD_ID:4974390
8798402	Il15	interleukin 15	gene	DOID:874	bacterial pneumonia		ISO	RGD:10786	D	RGD:9068941	20200609	RGD			PMID:17911627|REF_RGD_ID:5000754
8798402	Il15	interleukin 15	gene	DOID:9000386	Polyomavirus Infections		ISO	RGD:737535	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
8798402	Il15	interleukin 15	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:737535	D	RGD:9068941	20200609	RGD			PMID:18394133|REF_RGD_ID:4943853
8798402	Il15	interleukin 15	gene	DOID:9001049	Staphylococcal Pneumonia		ISO	RGD:10786	D	RGD:9068941	20200609	RGD			PMID:18390740|REF_RGD_ID:4996474
8798402	Il15	interleukin 15	gene	DOID:9001488	Human Influenza		ISO	RGD:10786	D	RGD:9068941	20200609	RGD			PMID:21098221|REF_RGD_ID:4994196
8798402	Il15	interleukin 15	gene	DOID:9001488	Human Influenza		ISO	RGD:10786	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:20212069|REF_RGD_ID:4996471
8798402	Il15	interleukin 15	gene	DOID:9001488	Human Influenza		ISO	RGD:737535	D	RGD:9068941	20200609	RGD			PMID:19234203|REF_RGD_ID:4996472
8798402	Il15	interleukin 15	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:10786	D	RGD:9068941	20200609	RGD		protein:increased expression:alveolar macrophage, bronchial epithelial cell	PMID:17611121|REF_RGD_ID:5000755
8798402	Il15	interleukin 15	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:737535	D	RGD:9068941	20200609	RGD			PMID:20188418|REF_RGD_ID:5000761
8798402	Il15	interleukin 15	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:737535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8798402	Il15	interleukin 15	gene	DOID:9004283	Transplant Rejection		ISO	RGD:2887	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:17532783|REF_RGD_ID:10402939
8798402	Il15	interleukin 15	gene	DOID:9005372	Inflammation		ISO	RGD:2887	D	RGD:9068941	20200609	RGD			PMID:12572774|REF_RGD_ID:1626616
8798402	Il15	interleukin 15	gene	DOID:9005883	Pleural Effusion		ISO	RGD:737535	D	RGD:9068941	20200609	RGD			PMID:15072171|REF_RGD_ID:4990458
8798402	Il15	interleukin 15	gene	DOID:9006928	Viral Bronchiolitis	severity	ISO	RGD:737535	D	RGD:9068941	20201218	RGD		mRNA,protein:increased expression:peripheral blood mononuclear cell,serum,dendritic cell (human)	PMID:26541527|REF_RGD_ID:40902860
8798402	Il15	interleukin 15	gene	DOID:9007651	Chronic Bronchitis		ISO	RGD:737535	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:11742275|REF_RGD_ID:4990461
8798402	Il15	interleukin 15	gene	DOID:9008212	Diabetic Foot		ISO	RGD:737535	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:dermis, endothelial cell	PMID:17014667|REF_RGD_ID:2313575
8798402	Il15	interleukin 15	gene	DOID:9008286	Experimental Autoimmune Myasthenia Gravis		ISO	RGD:2887	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle	PMID:11585642|REF_RGD_ID:1626617
8798402	Il15	interleukin 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8798402	Il15	interleukin 15	gene	DOID:934	viral infectious disease		ISO	RGD:737535	D	RGD:9068941	20200609	RGD		associated with Pulmonary Disease, Chronic Obstructive	PMID:21235417|REF_RGD_ID:4892668
8798402	Il15	interleukin 15	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:737535	D	RGD:9068941	20200609	RGD			PMID:17670937|REF_RGD_ID:2313574
8798402	Il15	interleukin 15	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:737535	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16098919|REF_RGD_ID:2313577
8798402	Il15	interleukin 15	gene	DOID:9970	obesity		ISO	RGD:737535	D	RGD:9068941	20200609	RGD		mRNA, protein:altered expression:skeletal muscle, plasma	PMID:18697873|REF_RGD_ID:2313573
8798418	Inpp5f	inositol polyphosphate-5-phosphatase F	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8798418	Inpp5f	inositol polyphosphate-5-phosphatase F	gene	DOID:10534	stomach cancer		ISO	RGD:1314013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8798418	Inpp5f	inositol polyphosphate-5-phosphatase F	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8798418	Inpp5f	inositol polyphosphate-5-phosphatase F	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1314013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia	
8798418	Inpp5f	inositol polyphosphate-5-phosphatase F	gene	DOID:1909	melanoma		ISO	RGD:1314013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8798418	Inpp5f	inositol polyphosphate-5-phosphatase F	gene	DOID:4362	cervical cancer		ISO	RGD:1314013	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8798418	Inpp5f	inositol polyphosphate-5-phosphatase F	gene	DOID:5041	esophageal cancer		ISO	RGD:1314013	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8798418	Inpp5f	inositol polyphosphate-5-phosphatase F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798418	Inpp5f	inositol polyphosphate-5-phosphatase F	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798443	Epha8	EPH receptor A8	gene	DOID:10534	stomach cancer		ISO	RGD:1350663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8798443	Epha8	EPH receptor A8	gene	DOID:5041	esophageal cancer		ISO	RGD:1350663	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8798443	Epha8	EPH receptor A8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798443	Epha8	EPH receptor A8	gene	DOID:9002189	High Myopia		ISO	RGD:1350663	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
8798443	Epha8	EPH receptor A8	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8798443	Epha8	EPH receptor A8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798443	Epha8	EPH receptor A8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8798465	Sfi1	SFI1 centrin binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8798465	Sfi1	SFI1 centrin binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8798465	Sfi1	SFI1 centrin binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8798465	Sfi1	SFI1 centrin binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8798465	Sfi1	SFI1 centrin binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8798465	Sfi1	SFI1 centrin binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8798465	Sfi1	SFI1 centrin binding protein	gene	DOID:1909	melanoma		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8798465	Sfi1	SFI1 centrin binding protein	gene	DOID:3275	thymoma		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8798465	Sfi1	SFI1 centrin binding protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8798465	Sfi1	SFI1 centrin binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8798465	Sfi1	SFI1 centrin binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8798465	Sfi1	SFI1 centrin binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1347387	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8798465	Sfi1	SFI1 centrin binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798465	Sfi1	SFI1 centrin binding protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8798465	Sfi1	SFI1 centrin binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8798465	Sfi1	SFI1 centrin binding protein	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8798465	Sfi1	SFI1 centrin binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798465	Sfi1	SFI1 centrin binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8798465	Sfi1	SFI1 centrin binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8798524	Homer1	homer scaffold protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8798524	Homer1	homer scaffold protein 1	gene	DOID:1909	melanoma		ISO	RGD:1354218	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
8798524	Homer1	homer scaffold protein 1	gene	DOID:2030	anxiety disorder		ISO	RGD:628725	D	RGD:9068941	20250717	RGD			PMID:15691715|REF_RGD_ID:617212668
8798524	Homer1	homer scaffold protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354218	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8798524	Homer1	homer scaffold protein 1	gene	DOID:3275	thymoma		ISO	RGD:1354218	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8798524	Homer1	homer scaffold protein 1	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:628725	D	RGD:9068941	20250717	RGD			PMID:15691715|REF_RGD_ID:617212668
8798524	Homer1	homer scaffold protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1354218	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8798524	Homer1	homer scaffold protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354218	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8798524	Homer1	homer scaffold protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8798524	Homer1	homer scaffold protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798524	Homer1	homer scaffold protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354218	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8798524	Homer1	homer scaffold protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354218	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8798524	Homer1	homer scaffold protein 1	gene	DOID:9003126	Hallucinations		ISO	RGD:1354218	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24126708
8798524	Homer1	homer scaffold protein 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1354218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8798524	Homer1	homer scaffold protein 1	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1354218	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:16160706|PMID:16314758
8798524	Homer1	homer scaffold protein 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1354218	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24126708
8798524	Homer1	homer scaffold protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798524	Homer1	homer scaffold protein 1	gene	DOID:9008394	Drug-Induced Dyskinesia		ISO	RGD:1354218	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24126708
8798524	Homer1	homer scaffold protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8798524	Homer1	homer scaffold protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1354218	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8798524	Homer1	homer scaffold protein 1	gene	DOID:9975	cocaine dependence		ISO	RGD:1354218	D	RGD:9068941	20250717	RGD		DNA:SNP:intron:rs6871510(human)	PMID:16314758|REF_RGD_ID:617212666
8798524	Homer1	homer scaffold protein 1	gene	DOID:9975	cocaine dependence		ISO	RGD:628725	D	RGD:9068941	20250717	RGD			PMID:24118426|REF_RGD_ID:617212670
8798537	Golim4	golgi integral membrane protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8798537	Golim4	golgi integral membrane protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8798537	Golim4	golgi integral membrane protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8798537	Golim4	golgi integral membrane protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8798537	Golim4	golgi integral membrane protein 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8798537	Golim4	golgi integral membrane protein 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8798537	Golim4	golgi integral membrane protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1322138	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8798537	Golim4	golgi integral membrane protein 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8798537	Golim4	golgi integral membrane protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798537	Golim4	golgi integral membrane protein 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8798537	Golim4	golgi integral membrane protein 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8798537	Golim4	golgi integral membrane protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798537	Golim4	golgi integral membrane protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
8798562	Dip2c	disco interacting protein 2 homolog C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8798562	Dip2c	disco interacting protein 2 homolog C	gene	DOID:10534	stomach cancer		ISO	RGD:1346607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8798562	Dip2c	disco interacting protein 2 homolog C	gene	DOID:1115	sarcoma		ISO	RGD:1346607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8798562	Dip2c	disco interacting protein 2 homolog C	gene	DOID:11830	myopia		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
8798562	Dip2c	disco interacting protein 2 homolog C	gene	DOID:1909	melanoma		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8798562	Dip2c	disco interacting protein 2 homolog C	gene	DOID:3070	high grade glioma		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8798562	Dip2c	disco interacting protein 2 homolog C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8798562	Dip2c	disco interacting protein 2 homolog C	gene	DOID:4362	cervical cancer		ISO	RGD:1346607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8798562	Dip2c	disco interacting protein 2 homolog C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8798562	Dip2c	disco interacting protein 2 homolog C	gene	DOID:5041	esophageal cancer		ISO	RGD:1346607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8798562	Dip2c	disco interacting protein 2 homolog C	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1346607	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
8798562	Dip2c	disco interacting protein 2 homolog C	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8798562	Dip2c	disco interacting protein 2 homolog C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798562	Dip2c	disco interacting protein 2 homolog C	gene	DOID:630	genetic disease		ISO	RGD:1346607	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8798562	Dip2c	disco interacting protein 2 homolog C	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346607	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8798562	Dip2c	disco interacting protein 2 homolog C	gene	DOID:9004538	Hearing Loss		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8798562	Dip2c	disco interacting protein 2 homolog C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798562	Dip2c	disco interacting protein 2 homolog C	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:38421105
8798562	Dip2c	disco interacting protein 2 homolog C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8798562	Dip2c	disco interacting protein 2 homolog C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8798562	Dip2c	disco interacting protein 2 homolog C	gene	DOID:93	language disorder		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:25741868
8798562	Dip2c	disco interacting protein 2 homolog C	gene	DOID:9970	obesity		ISO	RGD:1346607	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
8798605	Ube2g1	ubiquitin conjugating enzyme E2 G1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353011	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8798605	Ube2g1	ubiquitin conjugating enzyme E2 G1	gene	DOID:1115	sarcoma		ISO	RGD:1353011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8798605	Ube2g1	ubiquitin conjugating enzyme E2 G1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353011	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8798605	Ube2g1	ubiquitin conjugating enzyme E2 G1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798615	Mmp20	matrix metallopeptidase 20	gene	DOID:0110060	amelogenesis imperfecta hypomaturation type 2A2		ISO	RGD:1318675	D	RGD:7240710	20180130	OMIM			
8798615	Mmp20	matrix metallopeptidase 20	gene	DOID:0110060	amelogenesis imperfecta hypomaturation type 2A2		ISO	RGD:1318675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2 | ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IIA2	PMID:15744043|PMID:16246936|PMID:18096894|PMID:19966041|PMID:21597265|PMID:22243262|PMID:23355523|PMID:23625376|PMID:25741868|PMID:26124219|PMID:26502894|PMID:28473773|PMID:28492532|PMID:28659819|PMID:31999931|PMID:32495503|PMID:33600052|PMID:37228816
8798615	Mmp20	matrix metallopeptidase 20	gene	DOID:10534	stomach cancer		ISO	RGD:1318675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:15744043|PMID:18096894|PMID:21597265|PMID:22243262|PMID:23625376|PMID:25741868|PMID:26502894|PMID:28492532|PMID:32495503|PMID:33600052|PMID:37228816
8798615	Mmp20	matrix metallopeptidase 20	gene	DOID:12849	autistic disorder		ISO	RGD:1318675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:15744043|PMID:16246936|PMID:18096894|PMID:19966041|PMID:22243262|PMID:23355523|PMID:23625376|PMID:25741868|PMID:26124219
8798615	Mmp20	matrix metallopeptidase 20	gene	DOID:1324	lung cancer		ISO	RGD:1318675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8798615	Mmp20	matrix metallopeptidase 20	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1318675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta	PMID:15744043|PMID:18096894|PMID:21597265|PMID:22243262|PMID:23625376|PMID:25741868|PMID:26502894|PMID:28492532|PMID:32495503|PMID:33600052|PMID:37228816
8798615	Mmp20	matrix metallopeptidase 20	gene	DOID:3070	high grade glioma		ISO	RGD:1318675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8798615	Mmp20	matrix metallopeptidase 20	gene	DOID:5419	schizophrenia		ISO	RGD:1318675	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8798615	Mmp20	matrix metallopeptidase 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798615	Mmp20	matrix metallopeptidase 20	gene	DOID:630	genetic disease		ISO	RGD:1318675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15744043|PMID:18096894|PMID:21597265|PMID:22243262|PMID:23625376|PMID:25741868|PMID:26502894|PMID:28492532|PMID:32495503|PMID:33600052|PMID:37228816
8798615	Mmp20	matrix metallopeptidase 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798615	Mmp20	matrix metallopeptidase 20	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:15744043|PMID:16246936|PMID:18096894|PMID:19966041|PMID:22243262|PMID:23355523|PMID:23625376|PMID:25741868|PMID:26124219
8798634	Carmil3	capping protein regulator and myosin 1 linker 3	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1349280	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8798634	Carmil3	capping protein regulator and myosin 1 linker 3	gene	DOID:1324	lung cancer		ISO	RGD:1349280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8798634	Carmil3	capping protein regulator and myosin 1 linker 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8798634	Carmil3	capping protein regulator and myosin 1 linker 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798634	Carmil3	capping protein regulator and myosin 1 linker 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798634	Carmil3	capping protein regulator and myosin 1 linker 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8798634	Carmil3	capping protein regulator and myosin 1 linker 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome		ISO	RGD:1323128	D	RGD:7240710	20180130	OMIM			
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome		ISO	RGD:1323128	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome	PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18414213|PMID:19763152|PMID:20307669|PMID:21157496|PMID:21877133|PMID:21897446|PMID:21901789|PMID:21943378|PMID:22406018|PMID:22447358|PMID:22533542|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23188138|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24462884|PMID:24503146|PMID:24595103|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25533962|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26566502|PMID:26633542|PMID:26636822|PMID:27178444|PMID:27665122|PMID:28402684|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28717663|PMID:29079548|PMID:29193673|PMID:29345162|PMID:29588463|PMID:29610177|PMID:29715191|PMID:30029497|PMID:30064963|PMID:30311386|PMID:30488743|PMID:31607746|PMID:31630094|PMID:31638414|PMID:31755649|PMID:32531870|PMID:32581362|PMID:32944671|PMID:32973878|PMID:9063741|PMID:9409865|PMID:9536098
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome		ISO	RGD:1323128	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome	PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18195218|PMID:18414213|PMID:18654604|PMID:19283855|PMID:19763152|PMID:20307669|PMID:21128906|PMID:21157496|PMID:21877133|PMID:21897446|PMID:21901789|PMID:21943378|PMID:22406018|PMID:22447358|PMID:22498418|PMID:22533542|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23033341|PMID:23188138|PMID:23661369|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24257694|PMID:24400638|PMID:24462884|PMID:24503146|PMID:24595103|PMID:24690487|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25469153|PMID:25533962|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26066530|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26566502|PMID:26633542|PMID:26636822|PMID:26704672|PMID:26992781|PMID:27178444|PMID:27486776|PMID:27665122|PMID:28112973|PMID:28145517|PMID:28402684|PMID:28432734|PMID:28456785|PMID:28492532|PMID:28502102|PMID:28573831|PMID:28717663|PMID:28724398|PMID:28912962|PMID:29079548|PMID:29193673|PMID:29302074|PMID:29345162|PMID:29588463|PMID:29590070|PMID:29610177|PMID:29681726|PMID:29715191|PMID:29718281|PMID:29961767|PMID:29970176|PMID:29976977|PMID:30029497|PMID:30054919|PMID:30064963|PMID:30311386|PMID:30421101|PMID:30488743|PMID:30513137|PMID:30532227|PMID:30600744|PMID:31106028|PMID:31456290|PMID:31607746|PMID:31624253|PMID:31630094|PMID:31638414|PMID:31755649|PMID:31810438|PMID:31898538|PMID:32349990|PMID:32483926|PMID:32503575|PMID:32531858|PMID:32531870|PMID:32581362|PMID:32682410|PMID:32746448|PMID:32856788|PMID:32867697|PMID:32944671|PMID:32973878|PMID:33179747|PMID:33502066|PMID:33669459|PMID:33924909|PMID:33981653|PMID:34147365|PMID:34148947|PMID:34547244|PMID:34906470|PMID:34935411|PMID:9063741|PMID:9409865|PMID:9536098
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome		ISO	RGD:1323128	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome	PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18195218|PMID:18414213|PMID:18654604|PMID:19283855|PMID:19763152|PMID:20307669|PMID:21128906|PMID:21157496|PMID:21158358|PMID:21541333|PMID:21877133|PMID:21897446|PMID:21901789|PMID:21943378|PMID:22406018|PMID:22447358|PMID:22498418|PMID:22533542|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23033341|PMID:23188138|PMID:23661369|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24257694|PMID:2440063|PMID:24400638|PMID:24462884|PMID:24503146|PMID:24534407|PMID:24595103|PMID:24690487|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25469153|PMID:25533962|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25864795|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26066530|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26496393|PMID:26566502|PMID:26633542|PMID:26636822|PMID:26704672|PMID:26992781|PMID:27178444|PMID:27375279|PMID:27486776|PMID:27523285|PMID:27665122|PMID:28112973|PMID:28145517|PMID:28224992|PMID:28402684|PMID:28432734|PMID:28456785|PMID:28492532|PMID:28502102|PMID:28518168|PMID:28573831|PMID:2871766|PMID:28717663|PMID:28724398|PMID:28912962|PMID:29079548|PMID:29193673|PMID:29302074|PMID:29345162|PMID:29588463|PMID:29590070|PMID:29610177|PMID:29681726|PMID:29715191|PMID:29718281|PMID:29961767|PMID:29970176|PMID:30029497|PMID:30054919|PMID:30064963|PMID:30311386|PMID:30421101|PMID:30488743|PMID:30513137|PMID:30532227|PMID:30600744|PMID:30826590|PMID:31106028|PMID:31308072|PMID:31456290|PMID:31607746|PMID:31624253|PMID:31630094|PMID:31638414|PMID:31755649|PMID:31810438|PMID:31898538|PMID:31980526|PMID:32037395|PMID:32349990|PMID:32396277|PMID:32451492|PMID:32461654|PMID:32483926|PMID:32503575|PMID:32531858|PMID:32531870|PMID:32581362|PMID:32682410|PMID:32746448|PMID:32856788|PMID:32867697|PMID:32870709|PMID:32944671|PMID:32945434|PMID:32973878|PMID:33179747|PMID:33502066|PMID:33608557|PMID:33669459|PMID:33782391|PMID:33924909|PMID:33981653|PMID:34147365|PMID:34148116|PMID:34148947|PMID:34547244|PMID:34716235|PMID:34795310|PMID:34906470|PMID:34935411|PMID:35140360|PMID:35211159|PMID:35352813|PMID:35764379|PMID:35786123|PMID:36109815|PMID:36162988|PMID:36178741|PMID:36252119|PMID:36413997|PMID:36460718|PMID:36646731|PMID:36685911|PMID:36927560|PMID:37321834|PMID:38546151|PMID:38674329|PMID:9063741|PMID:9409865|PMID:9536098
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome		ISO	RGD:1323128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: ALSTROM SYNDROME | ClinVar Annotator: match by term: Alstrom Syndrome | ClinVar Annotator: match by term: Alstrom syndrome	PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18195218|PMID:18414213|PMID:18654604|PMID:19283855|PMID:19763152|PMID:20307669|PMID:21128906|PMID:21157496|PMID:21158358|PMID:21518413|PMID:21541333|PMID:21897446|PMID:22406018|PMID:22447358|PMID:22498418|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23033341|PMID:23188138|PMID:23652376|PMID:23661369|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24257694|PMID:2440063|PMID:24400638|PMID:24462884|PMID:24503146|PMID:24534407|PMID:24595103|PMID:24690487|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25864795|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26066530|PMID:26077327|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26496393|PMID:26535225|PMID:26566502|PMID:26633542|PMID:26704672|PMID:26992781|PMID:27375279|PMID:27486776|PMID:27523285|PMID:27665122|PMID:27788217|PMID:28112973|PMID:28224992|PMID:28402684|PMID:28407410|PMID:28432734|PMID:28453600|PMID:28456785|PMID:28492532|PMID:28518168|PMID:28573831|PMID:28610912|PMID:28717663|PMID:28724398|PMID:28912962|PMID:29079548|PMID:29193673|PMID:29302074|PMID:29345162|PMID:29588463|PMID:29590070|PMID:29681726|PMID:29715191|PMID:29718281|PMID:29961767|PMID:29970176|PMID:30029497|PMID:30054919|PMID:30064963|PMID:30311386|PMID:30421101|PMID:30484169|PMID:30488743|PMID:30513137|PMID:30532227|PMID:30600744|PMID:30826590|PMID:31106028|PMID:31308072|PMID:31456290|PMID:31607746|PMID:31624253|PMID:31630094|PMID:31638414|PMID:31755649|PMID:31980526|PMID:32349990|PMID:32451492|PMID:32461654|PMID:32483926|PMID:32503575|PMID:32531858|PMID:32531870|PMID:32682410|PMID:32746448|PMID:32856788|PMID:32867697|PMID:32870709|PMID:32944671|PMID:32973878|PMID:33179747|PMID:33363936|PMID:33410256|PMID:33502066|PMID:33608557|PMID:33669459|PMID:33782391|PMID:33924909|PMID:33969109|PMID:33980730|PMID:33981653|PMID:34147365|PMID:34148116|PMID:34148947|PMID:34547244|PMID:34716235|PMID:34795310|PMID:34828430|PMID:34906470|PMID:35140360|PMID:35211159|PMID:35321175|PMID:35352813|PMID:35702577|PMID:35756836|PMID:35764379|PMID:35786123|PMID:36162988|PMID:36178741|PMID:36206858|PMID:36252119|PMID:36413997|PMID:36440223|PMID:36460718|PMID:36646731|PMID:36685911|PMID:36927560|PMID:37321834|PMID:37439038|PMID:37798099|PMID:38378129|PMID:38546151|PMID:38576930|PMID:38674329|PMID:38806112|PMID:39138584|PMID:39264219|PMID:39884403|PMID:40676683|PMID:9536098
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome	susceptibility	ISO	RGD:1323128	D	RGD:9068941	20200609	RGD		DNA:frameshift mutations, nonsense mutations	PMID:11941369|REF_RGD_ID:1601169
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1323128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:11941370|PMID:17594715|PMID:18414213|PMID:23188138|PMID:24462884|PMID:25296579|PMID:25706677|PMID:25741868|PMID:26047050|PMID:26077327|PMID:28112973|PMID:28402684|PMID:28432734|PMID:28492532|PMID:29588463|PMID:29718281
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050578	occult macular dystrophy		ISO	RGD:1323128	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Occult maculopathy	PMID:25741868|PMID:28492532
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:24595103|PMID:25741868
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:0060249	scoliosis		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532|PMID:39138584
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:0060260	ptosis		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:28492532
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:0080046	Stickler syndrome		ISO	RGD:1323128	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Stickler syndrome	PMID:17594715|PMID:28492532|PMID:30311386
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1323128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:22876109|PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:17594715|PMID:25741868|PMID:25846608|PMID:28492532|PMID:30718709|PMID:32037395|PMID:34906470
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:1059	intellectual disability		ISO	RGD:1323128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:11941369|PMID:11941370|PMID:16720663|PMID:17594715|PMID:21157496|PMID:21897446|PMID:23188138|PMID:25296579|PMID:25706677|PMID:25741868|PMID:25846608|PMID:26066530|PMID:28112973|PMID:28432734|PMID:28492532|PMID:28610912|PMID:29718281|PMID:30064963|PMID:35764379|PMID:40676683
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:1074	kidney failure		ISO	RGD:1323128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:17594715|PMID:23188138|PMID:25296579|PMID:25706677|PMID:25741868|PMID:28112973|PMID:28432734|PMID:28492532
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:22876109|PMID:25741868|PMID:25846608|PMID:28492532|PMID:32483926
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:11782	astigmatism		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:11830	myopia		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1323128	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:28492532
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1323128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy	PMID:25741868|PMID:28145517|PMID:28492532
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:1324	lung cancer		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:14250	Down syndrome		ISO	RGD:1323128	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Down syndrome	PMID:28492532|PMID:30311386
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:1459	hypothyroidism		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868|PMID:28492532|PMID:39138584
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:25741868
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:1596	depressive disorder		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:1891	optic nerve disease		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:28492532
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:1909	melanoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1323128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:11941369|PMID:11941370|PMID:16720663|PMID:17594715|PMID:21157496|PMID:21897446|PMID:25741868|PMID:25846608|PMID:26066530|PMID:28492532|PMID:30064963|PMID:35764379
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:2030	anxiety disorder		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:2841	asthma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:3070	high grade glioma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1323128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	PMID:17594715|PMID:23188138|PMID:25296579|PMID:25706677|PMID:25741868|PMID:28112973|PMID:28432734|PMID:28492532|PMID:31607746
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:3275	thymoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:24400638|PMID:25741868|PMID:25846608|PMID:28492532
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:535	sleep disorder		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:5723	optic atrophy		ISO	RGD:1323128	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:7998	hyperthyroidism		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:83	cataract		ISO	RGD:1323128	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:17594715|PMID:25741868|PMID:28492532|PMID:28610912|PMID:29718281|PMID:30064963|PMID:40676683
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:8501	fundus dystrophy		ISO	RGD:1323128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11941369|PMID:11941370|PMID:16720663|PMID:17594715|PMID:18414213|PMID:21157496|PMID:21518413|PMID:21897446|PMID:22498418|PMID:23188138|PMID:23847139|PMID:24033266|PMID:24462884|PMID:24595103|PMID:25296579|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25864795|PMID:26066530|PMID:26566502|PMID:27375279|PMID:28112973|PMID:28402684|PMID:28432734|PMID:28492532|PMID:28573831|PMID:28610912|PMID:29193673|PMID:29718281|PMID:30054919|PMID:30064963|PMID:30421101|PMID:30513137|PMID:31456290|PMID:31810438|PMID:31898538|PMID:32451492|PMID:32531858|PMID:32870709|PMID:32944671|PMID:33669459|PMID:34148116|PMID:34148947|PMID:34795310|PMID:35764379|PMID:38674329|PMID:40676683
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9000343	Vision Disorders		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:11941370|PMID:17594715|PMID:18414213|PMID:24462884|PMID:25741868|PMID:28112973|PMID:28402684|PMID:28492532|PMID:28610912|PMID:29718281|PMID:30064963|PMID:31607746|PMID:40676683
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9001733	Tinnitus		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9002916	Hyperphagia		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9003137	Photophobia		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Photophobia	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9003507	Premature Birth		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9003539	Hyperacusis		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9003591	Telecanthus		ISO	RGD:1323128	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:17594715|PMID:25741868|PMID:28492532|PMID:28610912|PMID:29718281|PMID:30064963|PMID:40676683
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9004538	Hearing Loss		ISO	RGD:1323128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:11941370|PMID:17594715|PMID:18414213|PMID:23188138|PMID:24462884|PMID:25296579|PMID:25706677|PMID:25741868|PMID:28112973|PMID:28402684|PMID:28432734|PMID:28492532|PMID:29718281|PMID:30311386
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertriglyceridemia	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insulin resistance	PMID:11941370|PMID:17594715|PMID:18414213|PMID:24462884|PMID:25741868|PMID:28112973|PMID:28402684|PMID:28492532|PMID:29718281
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9007736	Vertigo		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9007874	Liver Failure		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Liver failure	PMID:25741868|PMID:28492532
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323128	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17594715|PMID:25741868|PMID:28492532|PMID:28610912|PMID:29718281|PMID:30064963|PMID:31607746|PMID:39138584|PMID:40676683
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1323128	D	RGD:8554872	20220426	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9008617	Lethargy		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:25741868|PMID:28492532|PMID:39138584
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9008818	Retinal Dystrophy, Early Onset Severe		ISO	RGD:1323128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Early-onset severe retinal dystrophy	
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9351	diabetes mellitus		ISO	RGD:1323128	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:18154657|PMID:21157496|PMID:21943378|PMID:22876109|PMID:24033266|PMID:24503146|PMID:24830966|PMID:25296579|PMID:25533962|PMID:25741868|PMID:25846608|PMID:26082521|PMID:26104972|PMID:26239645|PMID:26283575|PMID:26467025|PMID:26636822|PMID:27178444|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28717663|PMID:29610177
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9351	diabetes mellitus		ISO	RGD:1323128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes	PMID:21943378|PMID:22876109|PMID:23033341|PMID:24033266|PMID:25533962|PMID:25741868|PMID:25846608|PMID:26239645|PMID:26467025|PMID:26636822|PMID:28432734|PMID:28492532|PMID:29610177|PMID:30421101|PMID:32483926|PMID:32746448|PMID:33669459|PMID:34148947
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1323128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:22876109|PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:1323128	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs1320374, rs1881245, rs3820700 (human)	PMID:16601972|REF_RGD_ID:8696017
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9452	steatotic liver disease		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:17594715|PMID:22876109|PMID:25741868|PMID:25846608|PMID:28492532|PMID:31607746
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus | ClinVar Annotator: match by term: Vertical nystagmus	PMID:11941370|PMID:17594715|PMID:18414213|PMID:24462884|PMID:25741868|PMID:28112973|PMID:28402684|PMID:28492532|PMID:29718281|PMID:31607746
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9834	hyperopia		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9840	esotropia		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
8798678	Alms1	ALMS1 centrosome and basal body associated protein	gene	DOID:9970	obesity		ISO	RGD:1323128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:11941369|PMID:11941370|PMID:16720663|PMID:17594715|PMID:18414213|PMID:21157496|PMID:21897446|PMID:23188138|PMID:24462884|PMID:25296579|PMID:25706677|PMID:25741868|PMID:25846608|PMID:26066530|PMID:28112973|PMID:28402684|PMID:28432734|PMID:28492532|PMID:28610912|PMID:29718281|PMID:30064963|PMID:31607746|PMID:35764379|PMID:40676683
8798707	Dus1l	dihydrouridine synthase 1 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8798707	Dus1l	dihydrouridine synthase 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8798707	Dus1l	dihydrouridine synthase 1 like	gene	DOID:10534	stomach cancer		ISO	RGD:1605962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8798707	Dus1l	dihydrouridine synthase 1 like	gene	DOID:10907	microcephaly		ISO	RGD:1605962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8798707	Dus1l	dihydrouridine synthase 1 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8798707	Dus1l	dihydrouridine synthase 1 like	gene	DOID:1909	melanoma		ISO	RGD:1605962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8798707	Dus1l	dihydrouridine synthase 1 like	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8798707	Dus1l	dihydrouridine synthase 1 like	gene	DOID:4362	cervical cancer		ISO	RGD:1605962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8798707	Dus1l	dihydrouridine synthase 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798707	Dus1l	dihydrouridine synthase 1 like	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1605962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8798707	Dus1l	dihydrouridine synthase 1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798707	Dus1l	dihydrouridine synthase 1 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8798737	Fam186a	family with sequence similarity 186 member A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2301117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8798737	Fam186a	family with sequence similarity 186 member A	gene	DOID:5041	esophageal cancer		ISO	RGD:2301117	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8798737	Fam186a	family with sequence similarity 186 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2301117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798737	Fam186a	family with sequence similarity 186 member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2301117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8798770	Cep41	centrosomal protein 41	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1346248	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:25741868|PMID:28492532
8798770	Cep41	centrosomal protein 41	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial Autism Spectrum Disorder	PMID:25741868|PMID:28492532|PMID:30664616
8798770	Cep41	centrosomal protein 41	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:22246503|PMID:28492532
8798770	Cep41	centrosomal protein 41	gene	DOID:0110984	Joubert syndrome 15		ISO	RGD:1346248	D	RGD:7240710	20180130	OMIM			
8798770	Cep41	centrosomal protein 41	gene	DOID:0110984	Joubert syndrome 15		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CEP41-related condition | ClinVar Annotator: match by term: JOUBERT SYNDROME 15 | ClinVar Annotator: match by term: Joubert syndrome 15	PMID:16199547|PMID:17576681|PMID:21438139|PMID:22246503|PMID:25741868|PMID:28492532|PMID:30664616|PMID:9536098
8798770	Cep41	centrosomal protein 41	gene	DOID:0111004	Joubert syndrome 9		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 9/15, DIGENIC	PMID:22246503|PMID:28492532
8798770	Cep41	centrosomal protein 41	gene	DOID:1059	intellectual disability		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8798770	Cep41	centrosomal protein 41	gene	DOID:1324	lung cancer		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8798770	Cep41	centrosomal protein 41	gene	DOID:1909	melanoma		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8798770	Cep41	centrosomal protein 41	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8798770	Cep41	centrosomal protein 41	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8798770	Cep41	centrosomal protein 41	gene	DOID:4362	cervical cancer		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8798770	Cep41	centrosomal protein 41	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798770	Cep41	centrosomal protein 41	gene	DOID:630	genetic disease		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22246503|PMID:28492532
8798770	Cep41	centrosomal protein 41	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8798770	Cep41	centrosomal protein 41	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:22246503|PMID:28492532
8798770	Cep41	centrosomal protein 41	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8798770	Cep41	centrosomal protein 41	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:28492532
8798770	Cep41	centrosomal protein 41	gene	DOID:9005077	Joint Instability		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:22246503|PMID:28492532
8798770	Cep41	centrosomal protein 41	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:22246503|PMID:28492532
8798770	Cep41	centrosomal protein 41	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798770	Cep41	centrosomal protein 41	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8798770	Cep41	centrosomal protein 41	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8798770	Cep41	centrosomal protein 41	gene	DOID:9250	acrocallosal syndrome		ISO	RGD:1346248	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 12/15, DIGENIC	PMID:22246503|PMID:28492532
8798770	Cep41	centrosomal protein 41	gene	DOID:9256	colorectal cancer		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:17576681|PMID:28492532|PMID:9536098
8798793	Srm	spermidine synthase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8798793	Srm	spermidine synthase	gene	DOID:10534	stomach cancer		ISO	RGD:732806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8798793	Srm	spermidine synthase	gene	DOID:1909	melanoma		ISO	RGD:732806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8798793	Srm	spermidine synthase	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:732806	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8798793	Srm	spermidine synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798793	Srm	spermidine synthase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8798793	Srm	spermidine synthase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:732806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8798793	Srm	spermidine synthase	gene	DOID:9006205	Animal Disease Models		ISO	RGD:732806	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8798793	Srm	spermidine synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798793	Srm	spermidine synthase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8798820	Plcb4	phospholipase C beta 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8798820	Plcb4	phospholipase C beta 4	gene	DOID:0050700	cardiomyopathy		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:31186267|PMID:31395954|PMID:32826208|PMID:33258288
8798820	Plcb4	phospholipase C beta 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8798820	Plcb4	phospholipase C beta 4	gene	DOID:0060387	chondrodysplasia Blomstrand type		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type	PMID:25741868
8798820	Plcb4	phospholipase C beta 4	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:733727	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12	PMID:28492532|PMID:32733715
8798820	Plcb4	phospholipase C beta 4	gene	DOID:10283	prostate cancer		ISO	RGD:733727	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8798820	Plcb4	phospholipase C beta 4	gene	DOID:10283	prostate cancer		ISO	RGD:733727	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8798820	Plcb4	phospholipase C beta 4	gene	DOID:10534	stomach cancer		ISO	RGD:733727	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8798820	Plcb4	phospholipase C beta 4	gene	DOID:10907	microcephaly		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:31186267|PMID:31395954|PMID:32826208|PMID:33258288
8798820	Plcb4	phospholipase C beta 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8798820	Plcb4	phospholipase C beta 4	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:31186267|PMID:31395954|PMID:32826208|PMID:33258288
8798820	Plcb4	phospholipase C beta 4	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia	
8798820	Plcb4	phospholipase C beta 4	gene	DOID:1909	melanoma		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8798820	Plcb4	phospholipase C beta 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8798820	Plcb4	phospholipase C beta 4	gene	DOID:2843	long QT syndrome		ISO	RGD:733727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8798820	Plcb4	phospholipase C beta 4	gene	DOID:3275	thymoma		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8798820	Plcb4	phospholipase C beta 4	gene	DOID:4362	cervical cancer		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8798820	Plcb4	phospholipase C beta 4	gene	DOID:5041	esophageal cancer		ISO	RGD:733727	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8798820	Plcb4	phospholipase C beta 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798820	Plcb4	phospholipase C beta 4	gene	DOID:6039	uveal melanoma		ISO	RGD:733727	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:31186267
8798820	Plcb4	phospholipase C beta 4	gene	DOID:630	genetic disease		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31186267|PMID:31395954|PMID:32826208|PMID:33258288
8798820	Plcb4	phospholipase C beta 4	gene	DOID:9000208	Auriculocondylar Syndrome		ISO	RGD:733727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Auriculocondylar syndrome	PMID:18314001|PMID:22560091|PMID:23315542|PMID:25741868|PMID:28492532|PMID:32201334|PMID:33131036|PMID:35170830
8798820	Plcb4	phospholipase C beta 4	gene	DOID:9002492	Auriculocondylar Syndrome 1		ISO	RGD:733727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Auriculocondylar syndrome 1	PMID:22560091|PMID:28492532|PMID:35170830
8798820	Plcb4	phospholipase C beta 4	gene	DOID:9004538	Hearing Loss		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:31186267|PMID:31395954|PMID:32826208|PMID:33258288
8798820	Plcb4	phospholipase C beta 4	gene	DOID:9005616	Micrognathism		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:31186267|PMID:31395954|PMID:32826208|PMID:33258288
8798820	Plcb4	phospholipase C beta 4	gene	DOID:9006036	Auriculocondylar Syndrome 2		ISO	RGD:733727	D	RGD:7240710	20180130	OMIM			
8798820	Plcb4	phospholipase C beta 4	gene	DOID:9006036	Auriculocondylar Syndrome 2		ISO	RGD:733727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AURICULOCONDYLAR SYNDROME 2 | ClinVar Annotator: match by term: AURICULOCONDYLAR SYNDROME 2A | ClinVar Annotator: match by term: Auriculocondylar syndrome 2 | ClinVar Annotator: match by term: Auriculocondylar syndrome 2B | ClinVar Annotator: match by term: PLCB4-related condition | ClinVar Annotator: match by term: auriculocondylar syndrome 2	PMID:22560091|PMID:25741868|PMID:28492532|PMID:31186267|PMID:31395954|PMID:32826208|PMID:33258288|PMID:35284927|PMID:38703036
8798820	Plcb4	phospholipase C beta 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798820	Plcb4	phospholipase C beta 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:31186267|PMID:31395954|PMID:32826208|PMID:33258288
8798820	Plcb4	phospholipase C beta 4	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868|PMID:31186267|PMID:31395954|PMID:32826208|PMID:33258288
8798820	Plcb4	phospholipase C beta 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8798820	Plcb4	phospholipase C beta 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8798820	Plcb4	phospholipase C beta 4	gene	DOID:9256	colorectal cancer		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8798867	Dnajb14	DnaJ heat shock protein family (Hsp40) member B14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8798867	Dnajb14	DnaJ heat shock protein family (Hsp40) member B14	gene	DOID:10534	stomach cancer		ISO	RGD:1605332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8798867	Dnajb14	DnaJ heat shock protein family (Hsp40) member B14	gene	DOID:1115	sarcoma		ISO	RGD:1605332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8798867	Dnajb14	DnaJ heat shock protein family (Hsp40) member B14	gene	DOID:1324	lung cancer		ISO	RGD:1605332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8798867	Dnajb14	DnaJ heat shock protein family (Hsp40) member B14	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8798867	Dnajb14	DnaJ heat shock protein family (Hsp40) member B14	gene	DOID:3275	thymoma		ISO	RGD:1605332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8798867	Dnajb14	DnaJ heat shock protein family (Hsp40) member B14	gene	DOID:4362	cervical cancer		ISO	RGD:1605332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8798867	Dnajb14	DnaJ heat shock protein family (Hsp40) member B14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8798891	Dnajc24	DnaJ heat shock protein family (Hsp40) member C24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8798891	Dnajc24	DnaJ heat shock protein family (Hsp40) member C24	gene	DOID:3275	thymoma		ISO	RGD:1350551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8798891	Dnajc24	DnaJ heat shock protein family (Hsp40) member C24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8798891	Dnajc24	DnaJ heat shock protein family (Hsp40) member C24	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8798891	Dnajc24	DnaJ heat shock protein family (Hsp40) member C24	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1350551	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8798891	Dnajc24	DnaJ heat shock protein family (Hsp40) member C24	gene	DOID:9256	colorectal cancer		ISO	RGD:1350551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8798923	Casq2	calsequestrin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737298	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:20530761|PMID:23861362|PMID:24033266|PMID:25163546|PMID:25741868|PMID:28404607|PMID:28492532|PMID:30847666|PMID:39062601
8798923	Casq2	calsequestrin 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:737298	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
8798923	Casq2	calsequestrin 2	gene	DOID:0060674	catecholaminergic polymorphic ventricular tachycardia		ISO	RGD:737298	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC	PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:23286974|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:9536098
8798923	Casq2	calsequestrin 2	gene	DOID:0060674	catecholaminergic polymorphic ventricular tachycardia		ISO	RGD:737298	D	RGD:8554872	20250624	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia	PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22290197|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25651173|PMID:25691538|PMID:25741868|PMID:25741872|PMID:25741873|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29178653|PMID:29255176|PMID:29544605|PMID:29766881|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30700137|PMID:30775854|PMID:30821013|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36203036|PMID:36291626|PMID:37347419|PMID:37477868|PMID:39481677|PMID:9536098
8798923	Casq2	calsequestrin 2	gene	DOID:0060674	catecholaminergic polymorphic ventricular tachycardia		ISO	RGD:737298	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: catecholaminergic polymorphic ventricular tachycardia	PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:17881003|PMID:18469084|PMID:18583715|PMID:19709828|PMID:20353949|PMID:21063088|PMID:21076409|PMID:21265816|PMID:23861362|PMID:24033266|PMID:25741868|PMID:25741872|PMID:25741873|PMID:28492532|PMID:31482657|PMID:32693635
8798923	Casq2	calsequestrin 2	gene	DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1		ISO	RGD:737298	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC	PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25640679|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30729048|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:9536098
8798923	Casq2	calsequestrin 2	gene	DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1		ISO	RGD:737298	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC	PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25640679|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30729048|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626|PMID:9536098
8798923	Casq2	calsequestrin 2	gene	DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1		ISO	RGD:737298	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC	PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25640679|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29766881|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30729048|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626|PMID:37477868|PMID:9536098
8798923	Casq2	calsequestrin 2	gene	DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1		ISO	RGD:737298	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY	PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25640679|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29178653|PMID:29255176|PMID:29544605|PMID:29766881|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30729048|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626|PMID:37477868|PMID:9536098
8798923	Casq2	calsequestrin 2	gene	DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1		ISO	RGD:737298	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY	PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25640679|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29178653|PMID:29255176|PMID:29544605|PMID:29766881|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30729048|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626|PMID:37347419|PMID:37477868|PMID:9536098
8798923	Casq2	calsequestrin 2	gene	DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1		ISO	RGD:737298	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1	PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25640679|PMID:25651173|PMID:25691538|PMID:25741868|PMID:25741873|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29178653|PMID:29255176|PMID:29544605|PMID:29766881|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30729048|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626|PMID:37347419|PMID:37477868|PMID:39481677|PMID:9536098
8798923	Casq2	calsequestrin 2	gene	DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1		ISO	RGD:737298	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY	PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22290197|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25640679|PMID:25651173|PMID:25691538|PMID:25741868|PMID:25741873|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29178653|PMID:29255176|PMID:29544605|PMID:29766881|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30729048|PMID:30775854|PMID:30821013|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36203036|PMID:36291626|PMID:37347419|PMID:37477868|PMID:39481677|PMID:9536098
8798923	Casq2	calsequestrin 2	gene	DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1		ISO	RGD:737298	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY	PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22290197|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25640679|PMID:25651173|PMID:25691538|PMID:25741868|PMID:25741873|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29048771|PMID:29178653|PMID:29255176|PMID:29544605|PMID:29766881|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30700137|PMID:30729048|PMID:30775854|PMID:30821013|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36203036|PMID:36291626|PMID:37347419|PMID:37477868|PMID:39481677|PMID:9536098
8798923	Casq2	calsequestrin 2	gene	DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1		ISO	RGD:737298	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1	PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22290197|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25640679|PMID:25651173|PMID:25691538|PMID:25741868|PMID:25741873|PMID:26230511|PMID:26671417|PMID:26695698|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29048771|PMID:29178653|PMID:29255176|PMID:29544605|PMID:29766881|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30700137|PMID:30729048|PMID:30775854|PMID:30821013|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36203036|PMID:36291626|PMID:37347419|PMID:37477868|PMID:39481677|PMID:9536098
8798923	Casq2	calsequestrin 2	gene	DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1		ISO	RGD:737298	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1	PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22290197|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25640679|PMID:25651173|PMID:25691538|PMID:25741868|PMID:25741873|PMID:26230511|PMID:26671417|PMID:26695698|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29048771|PMID:29178653|PMID:29255176|PMID:29544605|PMID:29766881|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30700137|PMID:30729048|PMID:30775854|PMID:30821013|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32693635|PMID:32746448|PMID:33093545|PMID:35932045|PMID:36203036|PMID:36291626|PMID:37347419|PMID:37477868|PMID:39481677|PMID:9536098
8798923	Casq2	calsequestrin 2	gene	DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1		ISO	RGD:737298	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1	PMID:11401939|PMID:11704930|PMID:12386154|PMID:14571276|PMID:14715535|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17607358|PMID:17881003|PMID:18469084|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21618644|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23595086|PMID:23861362|PMID:24033266|PMID:25163546|PMID:25640679|PMID:25741868|PMID:26695698|PMID:27114410|PMID:27538377|PMID:28158428|PMID:28404607|PMID:28492532|PMID:29048771|PMID:29178653|PMID:29511324|PMID:29544605|PMID:29766881|PMID:30600839|PMID:30615648|PMID:30700137|PMID:30729048|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32693635|PMID:32746448|PMID:33046906|PMID:36203036|PMID:37347419|PMID:37477868|PMID:38900490|PMID:39900885|PMID:9536098
8798923	Casq2	calsequestrin 2	gene	DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1		ISO	RGD:737298	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1	PMID:11401939|PMID:11704930|PMID:12386154|PMID:14571276|PMID:14715535|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17607358|PMID:17881003|PMID:18469084|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21618644|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23595086|PMID:23861362|PMID:24033266|PMID:25163546|PMID:25640679|PMID:25741868|PMID:26695698|PMID:27114410|PMID:27538377|PMID:28158428|PMID:28404607|PMID:28492532|PMID:29048771|PMID:29178653|PMID:29511324|PMID:29544605|PMID:29766881|PMID:30600839|PMID:30615648|PMID:30700137|PMID:30729048|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32693635|PMID:32746448|PMID:33046906|PMID:36203036|PMID:37347419|PMID:37477868|PMID:38900490|PMID:39900885|PMID:9536098
8798923	Casq2	calsequestrin 2	gene	DOID:0060676	catecholaminergic polymorphic ventricular tachycardia 2		ISO	RGD:737298	D	RGD:7240710	20180130	OMIM			
8798923	Casq2	calsequestrin 2	gene	DOID:0060676	catecholaminergic polymorphic ventricular tachycardia 2		ISO	RGD:737298	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 2	PMID:12386154|PMID:14571276|PMID:16199547|PMID:16908766|PMID:17576681|PMID:18684293|PMID:19709828|PMID:20301466|PMID:20530761|PMID:21076409|PMID:21265816|PMID:21618644|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23861362|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26695698|PMID:27114410|PMID:27157848|PMID:27538377|PMID:28158428|PMID:28404607|PMID:28492532|PMID:29255176|PMID:29766881|PMID:30600839|PMID:30615648|PMID:30847666|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32693635|PMID:32746448|PMID:33046906|PMID:36203036|PMID:37347419|PMID:37937776|PMID:38900490|PMID:39900885|PMID:9536098
8798923	Casq2	calsequestrin 2	gene	DOID:0111073	progressive familial heart block		ISO	RGD:737298	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Progressive familial heart block	PMID:23861362|PMID:25741868|PMID:28404607|PMID:28492532|PMID:30615648
8798923	Casq2	calsequestrin 2	gene	DOID:11830	myopia		ISO	RGD:737298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:12386154|PMID:20301466|PMID:25741868|PMID:26695698|PMID:28492532|PMID:30600839
8798923	Casq2	calsequestrin 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:737298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532
8798923	Casq2	calsequestrin 2	gene	DOID:1909	melanoma		ISO	RGD:737298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8798923	Casq2	calsequestrin 2	gene	DOID:1929	supravalvular aortic stenosis	onset	ISO	RGD:2276	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:left ventricle myocardium	PMID:1531837|REF_RGD_ID:6771235
8798923	Casq2	calsequestrin 2	gene	DOID:2843	long QT syndrome		ISO	RGD:737298	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:12386154|PMID:20301466|PMID:24033266|PMID:25741868|PMID:26695698|PMID:28492532|PMID:29915098|PMID:30600839|PMID:30775854
8798923	Casq2	calsequestrin 2	gene	DOID:3275	thymoma		ISO	RGD:737298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8798923	Casq2	calsequestrin 2	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:737298	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:18684293|PMID:21618644|PMID:28492532|PMID:32693635
8798923	Casq2	calsequestrin 2	gene	DOID:6000	congestive heart failure		ISO	RGD:2276	D	RGD:9068941	20200609	RGD		mRNA:increased expression:sinoatrial node	PMID:21565973|REF_RGD_ID:6771208
8798923	Casq2	calsequestrin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8798923	Casq2	calsequestrin 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:737298	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:20530761|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
8798923	Casq2	calsequestrin 2	gene	DOID:9000727	Syncope		ISO	RGD:737298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:23861362|PMID:25741868|PMID:28404607|PMID:28492532|PMID:30615648
8798923	Casq2	calsequestrin 2	gene	DOID:9003163	Heart Block		ISO	RGD:737298	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Conduction disorder of the heart	PMID:25741868|PMID:27114410|PMID:28492532
8798923	Casq2	calsequestrin 2	gene	DOID:9003717	nonischemic cardiomyopathy		ISO	RGD:737298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonischemic cardiomyopathy	PMID:25741868|PMID:28492532|PMID:31589614|PMID:36203036
8798923	Casq2	calsequestrin 2	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:737298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:25741868|PMID:28492532|PMID:31589614|PMID:36203036
8798923	Casq2	calsequestrin 2	gene	DOID:9005141	Ventricular Tachycardia	susceptibility	ISO	RGD:737298	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.D307H (human)	PMID:11704930|REF_RGD_ID:734697
8798923	Casq2	calsequestrin 2	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:2276	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21441944|REF_RGD_ID:6771209
8798923	Casq2	calsequestrin 2	gene	DOID:9007001	Bradycardia		ISO	RGD:737298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:23861362|PMID:25741868|PMID:28404607|PMID:28492532|PMID:30615648
8798923	Casq2	calsequestrin 2	gene	DOID:9007215	Familial Ventricular Tachycardia		ISO	RGD:737298	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia	PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:17576681|PMID:17881003|PMID:18543230|PMID:18684293|PMID:19709828|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:23286974|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26671417|PMID:27114410|PMID:27538377|PMID:27930701|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29255176|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30775854|PMID:30847666|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:9536098
8798923	Casq2	calsequestrin 2	gene	DOID:9007820	Sudden Death		ISO	RGD:737298	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death	PMID:12034872|PMID:18543230|PMID:21063088|PMID:21454795|PMID:22421959|PMID:24025405|PMID:24033266|PMID:25651173|PMID:25741868|PMID:26671417|PMID:28492532
8798923	Casq2	calsequestrin 2	gene	DOID:9008421	Epistaxis		ISO	RGD:737298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:12386154|PMID:20301466|PMID:25741868|PMID:26695698|PMID:28492532|PMID:30600839
8798923	Casq2	calsequestrin 2	gene	DOID:9008830	Vasovagal Syncope		ISO	RGD:737298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasovagal syncope	PMID:23861362|PMID:25741868|PMID:28404607|PMID:28492532|PMID:30615648
8798923	Casq2	calsequestrin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8798923	Casq2	calsequestrin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8798923	Casq2	calsequestrin 2	gene	DOID:9997	peripartum cardiomyopathy		ISO	RGD:737298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripartum cardiomyopathy	PMID:25741868|PMID:28492532
8798948	Lgalsl	galectin like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8798948	Lgalsl	galectin like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8798948	Lgalsl	galectin like	gene	DOID:10534	stomach cancer		ISO	RGD:1606012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8798948	Lgalsl	galectin like	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606012	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8798948	Lgalsl	galectin like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798948	Lgalsl	galectin like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8798974	Cdhr1	cadherin related family member 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:737398	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:16199547|PMID:17576681|PMID:23044944|PMID:23233793|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:27353947|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32681094|PMID:33546218|PMID:9536098
8798974	Cdhr1	cadherin related family member 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:737398	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:16199547|PMID:17576681|PMID:23044944|PMID:23233793|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:27353947|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:31456290|PMID:32681094|PMID:33546218|PMID:34795310|PMID:34906470|PMID:35260635|PMID:35627310|PMID:9536098
8798974	Cdhr1	cadherin related family member 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:737398	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:16199547|PMID:17576681|PMID:23044944|PMID:23233793|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:27353947|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:31456290|PMID:32037395|PMID:32531858|PMID:32681094|PMID:33546218|PMID:34327195|PMID:34426522|PMID:34795310|PMID:34906470|PMID:35260635|PMID:35627310|PMID:35836572|PMID:36259723|PMID:36460718|PMID:9536098
8798974	Cdhr1	cadherin related family member 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:737398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod degeneration	PMID:23044944|PMID:23591405|PMID:25741868|PMID:26103963|PMID:26261414|PMID:28492532|PMID:31456290|PMID:32681094|PMID:35260635
8798974	Cdhr1	cadherin related family member 1	gene	DOID:0080600	COVID-19		ISO	RGD:737398	D	RGD:9068941	20200611	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8798974	Cdhr1	cadherin related family member 1	gene	DOID:0111019	cone-rod dystrophy 12		ISO	RGD:737398	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy 12	PMID:25741868
8798974	Cdhr1	cadherin related family member 1	gene	DOID:0111021	cone-rod dystrophy 15		ISO	RGD:737398	D	RGD:7240710	20180130	OMIM			
8798974	Cdhr1	cadherin related family member 1	gene	DOID:0111021	cone-rod dystrophy 15		ISO	RGD:737398	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CDHR1-related condition | ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 15 | ClinVar Annotator: match by term: Cone-rod dystrophy 15 | ClinVar Annotator: match by term: MACULAR DYSTROPHY, RETINAL, 5 | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 65 | ClinVar Annotator: match by term: cone-rod dystrophy 15	PMID:16199547|PMID:17576681|PMID:20087419|PMID:20805371|PMID:23044944|PMID:23233793|PMID:23591405|PMID:24154662|PMID:25741868|PMID:26103963|PMID:26261414|PMID:26306921|PMID:27623334|PMID:28418496|PMID:28492532|PMID:30576320|PMID:30718709|PMID:30992995|PMID:31816670|PMID:31964843|PMID:32037395|PMID:32681094|PMID:33691693|PMID:33946315|PMID:34906470|PMID:36284670|PMID:9536098
8798974	Cdhr1	cadherin related family member 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:737398	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:17576681|PMID:20805371|PMID:23044944|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26766544|PMID:27353947|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32681094|PMID:33546218|PMID:9536098
8798974	Cdhr1	cadherin related family member 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:737398	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:17576681|PMID:20805371|PMID:23044944|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26766544|PMID:27353947|PMID:27623334|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31130284|PMID:31387115|PMID:31816670|PMID:31964843|PMID:32037395|PMID:32531858|PMID:32581362|PMID:32681094|PMID:33546218|PMID:33576794|PMID:33749171|PMID:34229535|PMID:34327195|PMID:34426522|PMID:34795310|PMID:34906470|PMID:35260635|PMID:35627310|PMID:35656873|PMID:35836572|PMID:36259723|PMID:36460718|PMID:37510321|PMID:37734845|PMID:38219857|PMID:9536098
8798974	Cdhr1	cadherin related family member 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:737398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:23044944|PMID:23591405|PMID:25741868|PMID:26103963|PMID:26261414|PMID:28041643|PMID:28492532
8798974	Cdhr1	cadherin related family member 1	gene	DOID:1826	epilepsy		ISO	RGD:737398	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:20087419|PMID:23044944|PMID:23591405|PMID:26103963|PMID:26261414|PMID:27623334|PMID:28418496|PMID:28492532
8798974	Cdhr1	cadherin related family member 1	gene	DOID:4448	macular degeneration		ISO	RGD:737398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	PMID:23044944|PMID:23591405|PMID:25741868|PMID:26103963|PMID:26261414|PMID:28492532
8798974	Cdhr1	cadherin related family member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8798974	Cdhr1	cadherin related family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:737398	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8798974	Cdhr1	cadherin related family member 1	gene	DOID:5679	retinal disease		ISO	RGD:737398	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:17576681|PMID:23591405|PMID:24033266|PMID:25741868|PMID:27353947|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32037395|PMID:32531858|PMID:32681094|PMID:33546218|PMID:34327195|PMID:34426522|PMID:34795310|PMID:34906470|PMID:35260635|PMID:35836572|PMID:36259723|PMID:36460718|PMID:37510321|PMID:37734845|PMID:38219857|PMID:9536098
8798974	Cdhr1	cadherin related family member 1	gene	DOID:5723	optic atrophy		ISO	RGD:737398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8798974	Cdhr1	cadherin related family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8798974	Cdhr1	cadherin related family member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8798974	Cdhr1	cadherin related family member 1	gene	DOID:630	genetic disease		ISO	RGD:737398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8798974	Cdhr1	cadherin related family member 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:737398	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:20087419|PMID:23044944|PMID:23233793|PMID:23591405|PMID:25741868|PMID:26103963|PMID:26261414|PMID:26350383|PMID:26766544|PMID:27623334|PMID:28041643|PMID:28418496|PMID:28492532|PMID:28765526|PMID:29555955|PMID:29785639|PMID:30718709|PMID:31130284|PMID:31387115|PMID:31785789|PMID:31964843|PMID:32531858|PMID:32581362|PMID:32681094|PMID:33546218|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33946315|PMID:34229535|PMID:34426522|PMID:3511945|PMID:35260635|PMID:35627310|PMID:35656873|PMID:35836572|PMID:36460718|PMID:37734845
8798974	Cdhr1	cadherin related family member 1	gene	DOID:9006690	Vitelliform Macular Dystrophy 5		ISO	RGD:737398	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MACULAR DYSTROPHY, RETINAL, 5	PMID:25741868|PMID:34906470
8798974	Cdhr1	cadherin related family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8798995	Hoxb3	homeobox B3	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
8798995	Hoxb3	homeobox B3	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1321880	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34652879
8798995	Hoxb3	homeobox B3	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:1321880	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18351244
8798995	Hoxb3	homeobox B3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:0060249	scoliosis		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:24656866|PMID:25471517|PMID:28492532
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868|PMID:28492532
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:0070073	autosomal dominant intellectual developmental disorder 43		ISO	RGD:1346181	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 43	PMID:24656866|PMID:25741868|PMID:28492532
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:0070297	primary microcephaly		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:28492532
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868|PMID:28492532
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1346181	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:10892	hypospadias		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868|PMID:28492532
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:10907	microcephaly		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1346181	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADHD | ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:24656866|PMID:25741868|PMID:28492532
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:1359448	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:dorsal root ganglion:	PMID:25467976|REF_RGD_ID:12910554
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:1324	lung cancer		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:1826	epilepsy		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:24656866|PMID:25471517|PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:1909	melanoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:3275	thymoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:16199547|PMID:24656866|PMID:25471517|PMID:28492532
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:540	strabismus		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:630	genetic disease		ISO	RGD:1346181	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:24656866|PMID:25471517|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32042906|PMID:33256324|PMID:9536098
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:9001585	Intraventricular Hemorrhage		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intraventricular hemorrhage	PMID:28492532
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1346181	D	RGD:9068941	20230803	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:9002795	Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy		ISO	RGD:1346181	D	RGD:7240710	20180130	OMIM			
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:9002795	Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy		ISO	RGD:1346181	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY | ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | ClinVar Annotator: match by term: QARS1-related condition	PMID:17576681|PMID:24656866|PMID:25471517|PMID:25741868|PMID:26467025|PMID:26869582|PMID:27572814|PMID:28492532|PMID:28620870|PMID:30755392|PMID:31618474|PMID:32042906|PMID:33057194|PMID:33256324|PMID:35304488|PMID:35982159|PMID:36672771|PMID:9536098
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:9004866	Ataxia		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:24656866|PMID:25471517|PMID:28492532
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:24656866|PMID:25471517|PMID:28492532
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:9007001	Bradycardia		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:28492532
8799028	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24656866|PMID:25471517|PMID:25741868|PMID:28492532
8799060	Cd79a	CD79a molecule	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1346600	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25049379
8799060	Cd79a	CD79a molecule	gene	DOID:0080600	COVID-19		ISO	RGD:1346600	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:antibody secreting B cells (human)	PMID:32377375|REF_RGD_ID:32716422
8799060	Cd79a	CD79a molecule	gene	DOID:0081137	agammaglobulinemia 3		ISO	RGD:1346600	D	RGD:7240710	20190327	OMIM			
8799060	Cd79a	CD79a molecule	gene	DOID:0081137	agammaglobulinemia 3		ISO	RGD:1346600	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA 3 | ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive | ClinVar Annotator: match by term: CD79A-related condition	PMID:10525050|PMID:11920841|PMID:16199547|PMID:17576681|PMID:24481606|PMID:25741868|PMID:28492532|PMID:33046446|PMID:34060650|PMID:9536098
8799060	Cd79a	CD79a molecule	gene	DOID:14176	selective IgG deficiency disease		ISO	RGD:1346600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IgG deficiency	PMID:25741868
8799060	Cd79a	CD79a molecule	gene	DOID:1682	congenital heart disease		ISO	RGD:1346600	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: congenital heart defects	PMID:25741868|PMID:28492532
8799060	Cd79a	CD79a molecule	gene	DOID:1909	melanoma		ISO	RGD:1346600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8799060	Cd79a	CD79a molecule	gene	DOID:2583	agammaglobulinemia		ISO	RGD:1346600	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8799060	Cd79a	CD79a molecule	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1346600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8799060	Cd79a	CD79a molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8799060	Cd79a	CD79a molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8799090	Znf2	zinc finger protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8799090	Znf2	zinc finger protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8799090	Znf2	zinc finger protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1320138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8799090	Znf2	zinc finger protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799090	Znf2	zinc finger protein 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8799099	Acer3	alkaline ceramidase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8799099	Acer3	alkaline ceramidase 3	gene	DOID:0070744	early childhood-onset progressive leukodystrophy		ISO	RGD:1346570	D	RGD:7240710	20190315	OMIM			
8799099	Acer3	alkaline ceramidase 3	gene	DOID:0070744	early childhood-onset progressive leukodystrophy		ISO	RGD:1346570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ACER3-related condition | ClinVar Annotator: match by term: Alkaline ceramidase 3 deficiency | ClinVar Annotator: match by term: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	PMID:25741868|PMID:26792856|PMID:28492532|PMID:30575723|PMID:36939041
8799099	Acer3	alkaline ceramidase 3	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:1346570	D	RGD:9068941	20200716	RGD		mRNA:increased expression:liver	PMID:31949129|REF_RGD_ID:35673324
8799099	Acer3	alkaline ceramidase 3	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	disease_progression	ISO	RGD:1558553	D	RGD:9068941	20200716	RGD			PMID:31949129|REF_RGD_ID:35673324
8799099	Acer3	alkaline ceramidase 3	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:1558553	D	RGD:9068941	20200716	RGD			PMID:31949129|REF_RGD_ID:35673324
8799099	Acer3	alkaline ceramidase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1346570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8799099	Acer3	alkaline ceramidase 3	gene	DOID:1115	sarcoma		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8799099	Acer3	alkaline ceramidase 3	gene	DOID:1324	lung cancer		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8799099	Acer3	alkaline ceramidase 3	gene	DOID:1909	melanoma		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8799099	Acer3	alkaline ceramidase 3	gene	DOID:219	colon cancer	severity	ISO	RGD:1558553	D	RGD:9068941	20200716	RGD		associated with colitis	PMID:26938296|REF_RGD_ID:35673322
8799099	Acer3	alkaline ceramidase 3	gene	DOID:440	neuromuscular disease		ISO	RGD:1346570	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
8799099	Acer3	alkaline ceramidase 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8799099	Acer3	alkaline ceramidase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1346570	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8799099	Acer3	alkaline ceramidase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8799099	Acer3	alkaline ceramidase 3	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1346570	D	RGD:9068941	20200716	RGD			PMID:30097213|REF_RGD_ID:35673325
8799099	Acer3	alkaline ceramidase 3	gene	DOID:9000099	Experimental Colitis		ISO	RGD:1558553	D	RGD:9068941	20200716	RGD		mRNA,protein:decreased expression, decreased activity:colon:	PMID:26938296|REF_RGD_ID:35673322
8799099	Acer3	alkaline ceramidase 3	gene	DOID:9000099	Experimental Colitis	severity	ISO	RGD:1558553	D	RGD:9068941	20200716	RGD			PMID:26938296|REF_RGD_ID:35673322
8799099	Acer3	alkaline ceramidase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8799099	Acer3	alkaline ceramidase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8799099	Acer3	alkaline ceramidase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8799119	Musk	muscle associated receptor tyrosine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8799119	Musk	muscle associated receptor tyrosine kinase	gene	DOID:0110670	congenital myasthenic syndrome 9		ISO	RGD:731781	D	RGD:7240710	20180130	OMIM			
8799119	Musk	muscle associated receptor tyrosine kinase	gene	DOID:0110670	congenital myasthenic syndrome 9		ISO	RGD:731781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 9 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	PMID:15184594|PMID:15496425|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20371544|PMID:23326516|PMID:24122059|PMID:24183479|PMID:25537362|PMID:25562515|PMID:25612909|PMID:25640679|PMID:25695962|PMID:25741868|PMID:25900532|PMID:26467025|PMID:27544236|PMID:27588369|PMID:28492532|PMID:28518170|PMID:29663639|PMID:29704306|PMID:29947050|PMID:30429133|PMID:30719842|PMID:31750350|PMID:31920924|PMID:31974414|PMID:32253145|PMID:32453097|PMID:32732226|PMID:35587316|PMID:37091828|PMID:8653786|PMID:9536098
8799119	Musk	muscle associated receptor tyrosine kinase	gene	DOID:0110679	congenital myasthenic syndrome 4C		ISO	RGD:731781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C	PMID:16199547|PMID:25612909|PMID:25695962|PMID:25741868|PMID:25900532|PMID:28492532|PMID:30429133|PMID:31920924|PMID:37091828|PMID:8653786
8799119	Musk	muscle associated receptor tyrosine kinase	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:731781	D	RGD:7240710	20180130	OMIM			
8799119	Musk	muscle associated receptor tyrosine kinase	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:731781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 1 | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence | ClinVar Annotator: match by term: MUSK-related condition | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I	PMID:15184594|PMID:16199547|PMID:17576681|PMID:18414213|PMID:24183479|PMID:25537362|PMID:25612909|PMID:25695962|PMID:25741868|PMID:25900532|PMID:26467025|PMID:28492532|PMID:28518170|PMID:29663639|PMID:30429133|PMID:30719842|PMID:31920924|PMID:31974414|PMID:32070632|PMID:32453097|PMID:35587316|PMID:37091828|PMID:8653786|PMID:9536098
8799119	Musk	muscle associated receptor tyrosine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:731781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8799119	Musk	muscle associated receptor tyrosine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8799119	Musk	muscle associated receptor tyrosine kinase	gene	DOID:1115	sarcoma		ISO	RGD:731781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8799119	Musk	muscle associated receptor tyrosine kinase	gene	DOID:11720	distal myopathy		ISO	RGD:731781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	
8799119	Musk	muscle associated receptor tyrosine kinase	gene	DOID:1324	lung cancer		ISO	RGD:731781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
8799119	Musk	muscle associated receptor tyrosine kinase	gene	DOID:437	myasthenia gravis		ISO	RGD:731781	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22981737|PMID:27119269
8799119	Musk	muscle associated receptor tyrosine kinase	gene	DOID:437	myasthenia gravis	severity	ISO	RGD:731781	D	RGD:9068941	20200911	RGD		protein:increased expression:serum (human)	PMID:26025053|REF_RGD_ID:38599165
8799119	Musk	muscle associated receptor tyrosine kinase	gene	DOID:437	myasthenia gravis	treatment	ISO	RGD:731781	D	RGD:9068941	20200911	RGD			PMID:22218276|REF_RGD_ID:38599166
8799119	Musk	muscle associated receptor tyrosine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:731781	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8799119	Musk	muscle associated receptor tyrosine kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8799119	Musk	muscle associated receptor tyrosine kinase	gene	DOID:630	genetic disease		ISO	RGD:731781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8799119	Musk	muscle associated receptor tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8799119	Musk	muscle associated receptor tyrosine kinase	gene	DOID:9008286	Experimental Autoimmune Myasthenia Gravis		ISO	RGD:3211	D	RGD:9068941	20200609	RGD			PMID:17081697|REF_RGD_ID:2317084
8799119	Musk	muscle associated receptor tyrosine kinase	gene	DOID:9008585	Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency		ISO	RGD:731781	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8799146	Ift122	intraflagellar transport 122	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8799146	Ift122	intraflagellar transport 122	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25741868
8799146	Ift122	intraflagellar transport 122	gene	DOID:0050577	cranioectodermal dysplasia		ISO	RGD:1349473	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sensenbrenner syndrome	PMID:25741868
8799146	Ift122	intraflagellar transport 122	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8799146	Ift122	intraflagellar transport 122	gene	DOID:0080803	cranioectodermal dysplasia 1		ISO	RGD:1349473	D	RGD:7240710	20190327	OMIM			
8799146	Ift122	intraflagellar transport 122	gene	DOID:0080803	cranioectodermal dysplasia 1		ISO	RGD:1349473	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CRANIOECTODERMAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 | ClinVar Annotator: match by term: LEVIN SYNDROME I	PMID:16199547|PMID:17576681|PMID:20493458|PMID:23826986|PMID:24027799|PMID:25640679|PMID:25741868|PMID:26792575|PMID:28370949|PMID:28492532|PMID:29037998|PMID:33532864|PMID:38318288|PMID:9536098
8799146	Ift122	intraflagellar transport 122	gene	DOID:10907	microcephaly		ISO	RGD:1349473	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8799146	Ift122	intraflagellar transport 122	gene	DOID:10908	hydrocephalus		ISO	RGD:1349473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20493458
8799146	Ift122	intraflagellar transport 122	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8799146	Ift122	intraflagellar transport 122	gene	DOID:1115	sarcoma		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8799146	Ift122	intraflagellar transport 122	gene	DOID:12849	autistic disorder		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
8799146	Ift122	intraflagellar transport 122	gene	DOID:1909	melanoma		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8799146	Ift122	intraflagellar transport 122	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8799146	Ift122	intraflagellar transport 122	gene	DOID:2340	craniosynostosis		ISO	RGD:1349473	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:23826986|PMID:24027799|PMID:25741868
8799146	Ift122	intraflagellar transport 122	gene	DOID:5041	esophageal cancer		ISO	RGD:1349473	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8799146	Ift122	intraflagellar transport 122	gene	DOID:557	kidney disease		ISO	RGD:1349473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20493458
8799146	Ift122	intraflagellar transport 122	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8799146	Ift122	intraflagellar transport 122	gene	DOID:6039	uveal melanoma		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
8799146	Ift122	intraflagellar transport 122	gene	DOID:630	genetic disease		ISO	RGD:1349473	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8799146	Ift122	intraflagellar transport 122	gene	DOID:65	connective tissue disease		ISO	RGD:1349473	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
8799146	Ift122	intraflagellar transport 122	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8799146	Ift122	intraflagellar transport 122	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1349473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20493458
8799146	Ift122	intraflagellar transport 122	gene	DOID:9002608	Spinal Curvatures		ISO	RGD:1349473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20493458
8799146	Ift122	intraflagellar transport 122	gene	DOID:9002860	Cardiac Edema		ISO	RGD:1349473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20493458
8799146	Ift122	intraflagellar transport 122	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1349473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20493458
8799146	Ift122	intraflagellar transport 122	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8799213	Tmem127	transmembrane protein 127	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8799213	Tmem127	transmembrane protein 127	gene	DOID:0050771	pheochromocytoma		ISO	RGD:1601991	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Susceptibility to pheochromocytoma	PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:22136840|PMID:22419703|PMID:22517557|PMID:22541004|PMID:24334765|PMID:25389632|PMID:25741868|PMID:26269449|PMID:26467025|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29282712|PMID:29625052|PMID:30680046|PMID:32575117|PMID:33051659|PMID:34439168|PMID:34870338|PMID:9536098
8799213	Tmem127	transmembrane protein 127	gene	DOID:0050771	pheochromocytoma	susceptibility	ISO	RGD:1601991	D	RGD:7240710	20230505	OMIM			
8799213	Tmem127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata	PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29909963|PMID:30877234|PMID:31666924|PMID:32877928|PMID:33051659|PMID:9536098
8799213	Tmem127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:9536098
8799213	Tmem127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098
8799213	Tmem127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098
8799213	Tmem127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:9536098
8799213	Tmem127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:9536098
8799213	Tmem127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:9536098
8799213	Tmem127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas	PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28717660|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30246500|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:35189708|PMID:36451132|PMID:36655350|PMID:9536098
8799213	Tmem127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28717660|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30246500|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:35189708|PMID:36451132|PMID:36655350|PMID:38874686|PMID:9536098
8799213	Tmem127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: PARAGANGLIOMATA | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28567294|PMID:28717660|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30246500|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:34308366|PMID:34439168|PMID:34870338|PMID:35189708|PMID:36451132|PMID:36655350|PMID:38874686|PMID:9536098
8799213	Tmem127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:20154675|PMID:21156949|PMID:22541004|PMID:25741868|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29625052|PMID:33051659
8799213	Tmem127	transmembrane protein 127	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8799213	Tmem127	transmembrane protein 127	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1601991	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Acute promyelocytic leukemia	PMID:25741868|PMID:28492532|PMID:32575117
8799213	Tmem127	transmembrane protein 127	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1601991	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Chromosome 17p11.2 deletion syndrome	PMID:16266984|PMID:17576681|PMID:20154675|PMID:25389632|PMID:25741868|PMID:28492532|PMID:9536098
8799213	Tmem127	transmembrane protein 127	gene	DOID:11830	myopia		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:20154675|PMID:21156949|PMID:22541004|PMID:25741868|PMID:26269449|PMID:28492532|PMID:33051659
8799213	Tmem127	transmembrane protein 127	gene	DOID:1324	lung cancer		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8799213	Tmem127	transmembrane protein 127	gene	DOID:1596	depressive disorder		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:20154675|PMID:21156949|PMID:22541004|PMID:25741868|PMID:26269449|PMID:28492532|PMID:33051659
8799213	Tmem127	transmembrane protein 127	gene	DOID:2030	anxiety disorder		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:20154675|PMID:21156949|PMID:22541004|PMID:25741868|PMID:26269449|PMID:28492532|PMID:33051659
8799213	Tmem127	transmembrane protein 127	gene	DOID:2394	ovarian cancer		ISO	RGD:1601991	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8799213	Tmem127	transmembrane protein 127	gene	DOID:3312	bipolar disorder		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:20154675|PMID:21156949|PMID:22541004|PMID:25741868|PMID:26269449|PMID:28492532|PMID:33051659
8799213	Tmem127	transmembrane protein 127	gene	DOID:4362	cervical cancer		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8799213	Tmem127	transmembrane protein 127	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799213	Tmem127	transmembrane protein 127	gene	DOID:6039	uveal melanoma		ISO	RGD:1601991	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
8799213	Tmem127	transmembrane protein 127	gene	DOID:9005607	Hereditary Paraganglioma-Pheochromocytoma Syndromes		ISO	RGD:1601991	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	PMID:20154675|PMID:21156949|PMID:22541004|PMID:25741868|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29625052|PMID:33051659
8799213	Tmem127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30877234|PMID:31666924|PMID:32575117|PMID:33051659
8799213	Tmem127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338
8799213	Tmem127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098
8799213	Tmem127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23551308|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098
8799213	Tmem127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23551308|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:9536098
8799213	Tmem127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23551308|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28717660|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30246500|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:35189708|PMID:36451132|PMID:36655350|PMID:9536098
8799213	Tmem127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23551308|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28717660|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30246500|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:35189708|PMID:36451132|PMID:36655350|PMID:38874686|PMID:9536098
8799213	Tmem127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:23551308|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28567294|PMID:28717660|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30246500|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:34308366|PMID:34439168|PMID:34870338|PMID:35189708|PMID:36451132|PMID:36655350|PMID:38874686|PMID:9536098
8799213	Tmem127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23551308|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28717660|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30246500|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:34308366|PMID:34439168|PMID:34870338|PMID:35189708|PMID:36451132|PMID:36655350|PMID:38874686|PMID:9536098
8799213	Tmem127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22517557|PMID:22541004|PMID:23551308|PMID:24033266|PMID:25741868|PMID:25800244|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28855235|PMID:29282712|PMID:29625052|PMID:30680046|PMID:32575117|PMID:33051659|PMID:34308366|PMID:34439168|PMID:9536098
8799213	Tmem127	transmembrane protein 127	gene	DOID:9834	hyperopia		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:20154675|PMID:21156949|PMID:22541004|PMID:25741868|PMID:26269449|PMID:28492532|PMID:33051659
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:731273	D	RGD:9068941	20260205	RGD		mRNA:decreased expression:buccal mucosa	PMID:23448392|REF_RGD_ID:632517891
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:10534	stomach cancer		ISO	RGD:731273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:10763	hypertension		ISO	RGD:731273	D	RGD:9068941	20210903	RGD		mRNA:increased expression:alveolar system (human)	PMID:32496587|REF_RGD_ID:150383342
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:12506	Bell's palsy	exacerbates	ISO	RGD:731273	D	RGD:9068941	20210910	RGD		protein:increased expression:blood serum (human)	PMID:32149981|REF_RGD_ID:150429625
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:1474	aggressive periodontitis		ISO	RGD:731273	D	RGD:9068941	20210910	RGD		protein:increased expression:gingiva (human)	PMID:27176139|REF_RGD_ID:150429628
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:731273	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:1826	epilepsy		ISO	RGD:3372	D	RGD:9068941	20200609	RGD			PMID:20626060|REF_RGD_ID:4890972
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:1883	hepatitis C	ameliorates	ISO	RGD:11131	D	RGD:9068941	20210910	RGD			PMID:23903655|REF_RGD_ID:150429630
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:3310	atopic dermatitis		ISO	RGD:731273	D	RGD:9068941	20210903	RGD		mRNA:increased expression:zone of skin (human)	PMID:32496587|REF_RGD_ID:150383342
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:731273	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17094902
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:4947	cholangiocarcinoma	ameliorates	ISO	RGD:731273	D	RGD:9068941	20210910	RGD		human cell line and construct in a mouse model	PMID:21871105|REF_RGD_ID:150429623
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:526	human immunodeficiency virus infectious disease	disease_progression	ISO	RGD:731273	D	RGD:9068941	20210903	RGD		DNA:SNPs:promotor, intron 1: 1604C>G,  2653A>C (rs8177826, rs3735481) (human)	PMID:17590083|REF_RGD_ID:150383341
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:649	prion disease	exacerbates	ISO	RGD:11131	D	RGD:9068941	20210903	RGD			PMID:31181281|REF_RGD_ID:150383343
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:731273	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19424620
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:9000371	influenza A	ameliorates	ISO	RGD:731273	D	RGD:9068941	20210910	RGD		human gene in a mouse model	PMID:27354005|REF_RGD_ID:150429624
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:9000469	Viral Myocarditis	ameliorates	ISO	RGD:11131	D	RGD:9068941	20210910	RGD		associated with Coxsackievirus Infections	PMID:22446162|REF_RGD_ID:150429627
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:731273	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21956400
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:11131	D	RGD:9068941	20210910	RGD			PMID:29680745|REF_RGD_ID:150429626
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:731273	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:9008225	Respirovirus Infections	exacerbates	ISO	RGD:11131	D	RGD:9068941	20210910	RGD			PMID:28594325|REF_RGD_ID:150429629
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:731273	D	RGD:9068941	20210910	RGD		mRNA, protein:increased expression:blood serum, nasopharynx, extracellular exosome (human)	PMID:31063269|REF_RGD_ID:150429622
8799221	Ppia	peptidylprolyl isomerase A	gene	DOID:9970	obesity		ISO	RGD:731273	D	RGD:9068941	20210903	RGD		mRNA:increased expression:blood (human)	PMID:32496587|REF_RGD_ID:150383342
8799229	Arsk	arylsulfatase family member K	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606445	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8799229	Arsk	arylsulfatase family member K	gene	DOID:0061128	mucopolysaccharidosis X		ISO	RGD:1606445	D	RGD:7240710	20220112	OMIM			
8799229	Arsk	arylsulfatase family member K	gene	DOID:0061128	mucopolysaccharidosis X		ISO	RGD:1606445	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARSK-related condition | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE X	PMID:34916232
8799229	Arsk	arylsulfatase family member K	gene	DOID:1115	sarcoma		ISO	RGD:1606445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8799229	Arsk	arylsulfatase family member K	gene	DOID:1909	melanoma		ISO	RGD:1606445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8799229	Arsk	arylsulfatase family member K	gene	DOID:4362	cervical cancer		ISO	RGD:1606445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8799229	Arsk	arylsulfatase family member K	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8799229	Arsk	arylsulfatase family member K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799229	Arsk	arylsulfatase family member K	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8799229	Arsk	arylsulfatase family member K	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8799229	Arsk	arylsulfatase family member K	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8799243	Dbf4	DBF4-CDC7 kinase regulatory subunit	gene	DOID:1115	sarcoma		ISO	RGD:1605697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8799243	Dbf4	DBF4-CDC7 kinase regulatory subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1605697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8799243	Dbf4	DBF4-CDC7 kinase regulatory subunit	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8799243	Dbf4	DBF4-CDC7 kinase regulatory subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799243	Dbf4	DBF4-CDC7 kinase regulatory subunit	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8799243	Dbf4	DBF4-CDC7 kinase regulatory subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8799243	Dbf4	DBF4-CDC7 kinase regulatory subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1605697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8799261	Rnf222	ring finger protein 222	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2299989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8799297	Hsdl1	hydroxysteroid dehydrogenase like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1354077	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8799297	Hsdl1	hydroxysteroid dehydrogenase like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8799297	Hsdl1	hydroxysteroid dehydrogenase like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1354077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8799297	Hsdl1	hydroxysteroid dehydrogenase like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1354077	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8799297	Hsdl1	hydroxysteroid dehydrogenase like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799297	Hsdl1	hydroxysteroid dehydrogenase like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:0050562	West syndrome		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868|PMID:32581362
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:0060043	sexual health disorder		ISO	RGD:737336	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19295509
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:737336	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15264227
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:0060260	ptosis		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:29016847
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:0060475	myoclonic-atonic epilepsy		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasm	PMID:25741868|PMID:32581362
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:0060823	syndromic X-linked intellectual disability 94		ISO	RGD:737336	D	RGD:7240710	20180130	OMIM			
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:0060823	syndromic X-linked intellectual disability 94		ISO	RGD:737336	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Disrupted sleep-wake cycle with developmental delay and learning difficulty | ClinVar Annotator: match by term: GRIA3-Related Disorder | ClinVar Annotator: match by term: GRIA3-related condition | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 29 | ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Wu type | ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, wu type | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 94	PMID:19022251|PMID:20716669|PMID:25741868|PMID:25985138|PMID:26467025|PMID:28492532|PMID:29016847|PMID:29758562|PMID:31209962|PMID:31780880|PMID:32977175|PMID:33818783|PMID:36368352|PMID:37921875|PMID:38038360
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:737336	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Developmental and Epileptic Encephalopathy	PMID:25741868
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:10534	stomach cancer		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:1059	intellectual disability		ISO	RGD:737336	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:28492532|PMID:32581362|PMID:33818783
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:10907	microcephaly		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:20716669
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:1115	sarcoma		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:11782	astigmatism		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:29016847
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:11830	myopia		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:20716669
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:12859	choreatic disease		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:1289	neurodegenerative disease		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: neurodegenerative disorder	PMID:25741868|PMID:32581362
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:1432	blindness		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:20716669
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:1826	epilepsy		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:20716669|PMID:25741868|PMID:28492532|PMID:33818783
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:1827	generalized epilepsy		ISO	RGD:737336	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868|PMID:32581362
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:1909	melanoma		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:2234	focal epilepsy		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:32581362
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:3275	thymoma		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:423	myopathy		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:29016847
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:4667	kyphosis		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:29016847
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:543	dystonia		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder	PMID:20716669|PMID:25741868|PMID:32581362
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:57	aortic valve insufficiency		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic regurgitation	PMID:25741868
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:630	genetic disease		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20716669|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29016847
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:26467025|PMID:28492532
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:20716669
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:20716669
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:9001276	Failure to Thrive		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:20716669
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:737336	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:9005077	Joint Instability		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:29016847
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:9005532	Muscle Weakness		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:20716669
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:20716669|PMID:25741868|PMID:29016847|PMID:32581362
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:9005616	Micrognathism		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:20716669
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:9005713	Ectopia Cordis		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectopia cordis	PMID:25741868
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:29016847
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:20716669|PMID:25741868|PMID:32581362
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:9007722	Myoclonus		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:20716669
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:9007892	Tics		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tics	PMID:20716669
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:20716669|PMID:25741868|PMID:25741907|PMID:29016847
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:9008675	Dyskinesias		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskinesia	
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8799325	Gria3	glutamate ionotropic receptor AMPA type subunit 3	gene	DOID:9976	heroin dependence		ISO	RGD:70958	D	RGD:9068941	20241205	RGD		protein:decreased expression:medial prefrontal cortex (rat)	PMID:19160503|REF_RGD_ID:529195970
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:0111780	TARP syndrome		ISO	RGD:732878	D	RGD:7240710	20180130	OMIM			
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:0111780	TARP syndrome		ISO	RGD:732878	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pierre Robin syndrome with congenital heart malformation and clubfoot | ClinVar Annotator: match by term: RBM10-related condition | ClinVar Annotator: match by term: TARP SYNDROME | ClinVar Annotator: match by term: TARP syndrome	PMID:20451169|PMID:21910224|PMID:24259342|PMID:25741868|PMID:28492532|PMID:30462380|PMID:32812661|PMID:35991558
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:1059	intellectual disability		ISO	RGD:732878	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:1324	lung cancer		ISO	RGD:732878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:1324	lung cancer	onset	ISO	RGD:732878	D	RGD:9068941	20220224	RGD			PMID:33219256|REF_RGD_ID:150429789
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:732878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:26853560|PMID:28091594|PMID:35101336
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:1909	melanoma		ISO	RGD:732878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:3070	high grade glioma		ISO	RGD:732878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:732878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma	PMID:21910224|PMID:22980975|PMID:24530524|PMID:27993330|PMID:28091594|PMID:33718153
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:732878	D	RGD:9068941	20220224	RGD			PMID:30955253|REF_RGD_ID:151356984
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:732878	D	RGD:9068941	20220224	RGD		DNA:missense mutations, protein-truncating variants: :multiple	PMID:22980975|REF_RGD_ID:11097386
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:732878	D	RGD:9068941	20220224	RGD		mRNA, protein:decreased expression:lung	PMID:29085465|REF_RGD_ID:151356983
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:4362	cervical cancer		ISO	RGD:732878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:6000	congestive heart failure		ISO	RGD:631366	D	RGD:9068941	20220414	RGD		protein:decreased expression:heart	PMID:30257214|REF_RGD_ID:151667449
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:630	genetic disease		ISO	RGD:732878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15853797|PMID:28492532
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:732878	D	RGD:9068941	20220224	RGD		mRNA:decreased expression:liver	PMID:32572914|REF_RGD_ID:151356975
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:732878	D	RGD:9068941	20220224	RGD		associated with lung adenocarcinoma;DNA:missense mutation:exon:p.R241C (c.763C>T) (human)	PMID:30405763|REF_RGD_ID:151356993
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:9003936	Cardiomegaly		ISO	RGD:631366	D	RGD:9068941	20220414	RGD		protein:decreased expression:heart	PMID:30257214|REF_RGD_ID:151667449
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8799360	Rbm10	RNA binding motif protein 10	gene	DOID:9256	colorectal cancer	onset	ISO	RGD:732878	D	RGD:9068941	20220224	RGD			PMID:33194656|REF_RGD_ID:151356979
8799405	Rec114	REC114 meiotic recombination protein	gene	DOID:4362	cervical cancer		ISO	RGD:2307386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8799405	Rec114	REC114 meiotic recombination protein	gene	DOID:9002039	Oocyte/Zygote/Embryo Maturation Arrest 10		ISO	RGD:2307386	D	RGD:7240710	20210303	OMIM			
8799405	Rec114	REC114 meiotic recombination protein	gene	DOID:9002039	Oocyte/Zygote/Embryo Maturation Arrest 10		ISO	RGD:2307386	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 10 | ClinVar Annotator: match by term: REC114-related condition	PMID:25741868|PMID:28492532
8799422	Alg3	ALG3 alpha-1,3- mannosyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8799422	Alg3	ALG3 alpha-1,3- mannosyltransferase	gene	DOID:0080556	congenital disorder of glycosylation Id		ISO	RGD:1314369	D	RGD:7240710	20180130	OMIM			
8799422	Alg3	ALG3 alpha-1,3- mannosyltransferase	gene	DOID:0080556	congenital disorder of glycosylation Id		ISO	RGD:1314369	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALG3-related condition | ClinVar Annotator: match by term: CDGS, TYPE IV | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id	PMID:12357336|PMID:17551933|PMID:25741868|PMID:28492532
8799422	Alg3	ALG3 alpha-1,3- mannosyltransferase	gene	DOID:10579	leukodystrophy		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868
8799422	Alg3	ALG3 alpha-1,3- mannosyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual Disability | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:30167849|PMID:33583022
8799422	Alg3	ALG3 alpha-1,3- mannosyltransferase	gene	DOID:10907	microcephaly		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8799422	Alg3	ALG3 alpha-1,3- mannosyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8799422	Alg3	ALG3 alpha-1,3- mannosyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1314369	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizures	
8799422	Alg3	ALG3 alpha-1,3- mannosyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:33583022
8799422	Alg3	ALG3 alpha-1,3- mannosyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1314369	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8799422	Alg3	ALG3 alpha-1,3- mannosyltransferase	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1314369	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation	PMID:25741868
8799422	Alg3	ALG3 alpha-1,3- mannosyltransferase	gene	DOID:540	strabismus		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:33583022
8799422	Alg3	ALG3 alpha-1,3- mannosyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799422	Alg3	ALG3 alpha-1,3- mannosyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1314369	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8799422	Alg3	ALG3 alpha-1,3- mannosyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8799422	Alg3	ALG3 alpha-1,3- mannosyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8799422	Alg3	ALG3 alpha-1,3- mannosyltransferase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8799422	Alg3	ALG3 alpha-1,3- mannosyltransferase	gene	DOID:9008385	Vomiting		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868
8799422	Alg3	ALG3 alpha-1,3- mannosyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8799422	Alg3	ALG3 alpha-1,3- mannosyltransferase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
8799462	Wrnip1	WRN helicase interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8799462	Wrnip1	WRN helicase interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1346094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8799462	Wrnip1	WRN helicase interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1346094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8799462	Wrnip1	WRN helicase interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8799473	Cracr2a	calcium release activated channel regulator 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8799473	Cracr2a	calcium release activated channel regulator 2A	gene	DOID:1115	sarcoma		ISO	RGD:1603191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8799473	Cracr2a	calcium release activated channel regulator 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1603191	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8799473	Cracr2a	calcium release activated channel regulator 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799473	Cracr2a	calcium release activated channel regulator 2A	gene	DOID:6039	uveal melanoma		ISO	RGD:1603191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8799473	Cracr2a	calcium release activated channel regulator 2A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8799473	Cracr2a	calcium release activated channel regulator 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8799473	Cracr2a	calcium release activated channel regulator 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8799509	Gcsaml	germinal center associated signaling and motility like	gene	DOID:3275	thymoma		ISO	RGD:1605281	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8799509	Gcsaml	germinal center associated signaling and motility like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8799521	Lamtor5	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8799521	Lamtor5	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5	gene	DOID:10603	glucose intolerance		ISO	RGD:1312775	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:29259128
8799521	Lamtor5	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8799521	Lamtor5	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799521	Lamtor5	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1312775	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26229107
8799521	Lamtor5	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8799538	Timm8b	translocase of inner mitochondrial membrane 8 homolog B	gene	DOID:0080600	COVID-19		ISO	RGD:734090	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8799538	Timm8b	translocase of inner mitochondrial membrane 8 homolog B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799544	Srpx	sushi repeat containing protein X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8799544	Srpx	sushi repeat containing protein X-linked	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8799544	Srpx	sushi repeat containing protein X-linked	gene	DOID:4362	cervical cancer		ISO	RGD:733583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8799544	Srpx	sushi repeat containing protein X-linked	gene	DOID:5041	esophageal cancer		ISO	RGD:733583	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8799544	Srpx	sushi repeat containing protein X-linked	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799544	Srpx	sushi repeat containing protein X-linked	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733583	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8799544	Srpx	sushi repeat containing protein X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8799544	Srpx	sushi repeat containing protein X-linked	gene	DOID:9007661	Dwarfism		ISO	RGD:733583	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
8799566	Plxna2	plexin A2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8799566	Plxna2	plexin A2	gene	DOID:10534	stomach cancer		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8799566	Plxna2	plexin A2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8799566	Plxna2	plexin A2	gene	DOID:1115	sarcoma		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8799566	Plxna2	plexin A2	gene	DOID:12849	autistic disorder		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532|PMID:33749153
8799566	Plxna2	plexin A2	gene	DOID:1909	melanoma		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
8799566	Plxna2	plexin A2	gene	DOID:3070	high grade glioma		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8799566	Plxna2	plexin A2	gene	DOID:4362	cervical cancer		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8799566	Plxna2	plexin A2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8799566	Plxna2	plexin A2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313288	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8799566	Plxna2	plexin A2	gene	DOID:5419	schizophrenia		ISO	RGD:1313288	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18583979
8799566	Plxna2	plexin A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799566	Plxna2	plexin A2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8799566	Plxna2	plexin A2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8799566	Plxna2	plexin A2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8799566	Plxna2	plexin A2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8799605	Slc4a3	solute carrier family 4 member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8799605	Slc4a3	solute carrier family 4 member 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868
8799605	Slc4a3	solute carrier family 4 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8799605	Slc4a3	solute carrier family 4 member 3	gene	DOID:10534	stomach cancer		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8799605	Slc4a3	solute carrier family 4 member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8799605	Slc4a3	solute carrier family 4 member 3	gene	DOID:114	heart disease		ISO	RGD:733142	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16844662
8799605	Slc4a3	solute carrier family 4 member 3	gene	DOID:1909	melanoma		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8799605	Slc4a3	solute carrier family 4 member 3	gene	DOID:3275	thymoma		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8799605	Slc4a3	solute carrier family 4 member 3	gene	DOID:4362	cervical cancer		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8799605	Slc4a3	solute carrier family 4 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799605	Slc4a3	solute carrier family 4 member 3	gene	DOID:630	genetic disease		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:29167417|PMID:36806574
8799605	Slc4a3	solute carrier family 4 member 3	gene	DOID:8466	retinal degeneration		ISO	RGD:12107555	D	RGD:9068941	20250501	OMIA		Retinal atrophy, progressive, SLC4A3-related	PMID:21738669|PMID:22065099|PMID:36325094|PMID:38028226|PMID:38334230
8799605	Slc4a3	solute carrier family 4 member 3	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:733142	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868
8799605	Slc4a3	solute carrier family 4 member 3	gene	DOID:9004002	Short QT Syndrome 7		ISO	RGD:733142	D	RGD:7240710	20230215	OMIM			
8799605	Slc4a3	solute carrier family 4 member 3	gene	DOID:9004002	Short QT Syndrome 7		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SHORT QT SYNDROME 7 | ClinVar Annotator: match by term: SLC4A3-related condition | ClinVar Annotator: match by term: Short QT syndrome 7	PMID:25741868|PMID:29167417|PMID:30420954|PMID:31315195|PMID:36806574
8799605	Slc4a3	solute carrier family 4 member 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8799605	Slc4a3	solute carrier family 4 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8799605	Slc4a3	solute carrier family 4 member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:0050952	spastic ataxia		ISO	RGD:1316232	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:0111743	cerebellar ataxia type 47		ISO	RGD:1316232	D	RGD:7240710	20250604	OMIM			
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:0111743	cerebellar ataxia type 47		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PUM1-associated developmental disability-ataxia-seizure syndrome | ClinVar Annotator: match by term: PUM1-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 47 | ClinVar Annotator: match by term: Spinocerebellar ataxia 47	PMID:25741868|PMID:29474920|PMID:31859446
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:1059	intellectual disability		ISO	RGD:1316232	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:1909	melanoma		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:3275	thymoma		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316232	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:630	genetic disease		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1316232	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Late-onset spinocerebellar ataxia	PMID:25741868|PMID:29474920|PMID:40191983
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1316232	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: global developmental delay	
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:9008128	NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM		ISO	RGD:1316232	D	RGD:7240710	20240306	OMIM			
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:9008128	NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM	PMID:25741868|PMID:29474920|PMID:30903679|PMID:31859446|PMID:35386260
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	PMID:25741868
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8799652	Pum1	pumilio RNA binding family member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:0050606	acrokeratosis verruciformis		ISO	RGD:731733	D	RGD:7240710	20260722	OMIM			
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:0050606	acrokeratosis verruciformis		ISO	RGD:731733	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACROKERATOSIS VERRUCIFORMIS | ClinVar Annotator: match by term: ATP2A2-related condition | ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf	PMID:11244492|PMID:12542527|PMID:22814319|PMID:25622760|PMID:25741868|PMID:26467025|PMID:28035777|PMID:28492532|PMID:28498512
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:0051064	left ventricular failure		ISO	RGD:731733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21217071
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:10825	essential hypertension	susceptibility	ISO	RGD:731733	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:p.A724A (c.2171G>A)(human)	PMID:20687374|REF_RGD_ID:13507310
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:1115	sarcoma		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:114	heart disease		ISO	RGD:2174	D	RGD:9068941	20200609	RGD		associated with Metabolic Syndrome X	PMID:23458196|REF_RGD_ID:7327178
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:114	heart disease		ISO	RGD:731733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19328205
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:14221	abdominal obesity-metabolic syndrome 1		ISO	RGD:2174	D	RGD:9068941	20200609	RGD		protein:increased oxidation:cardiac muscle cell	PMID:23997093|REF_RGD_ID:13782087
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:1459	hypothyroidism		ISO	RGD:2174	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:heart left ventricle	PMID:21217071|REF_RGD_ID:6904140
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:1824	status epilepticus		ISO	RGD:731733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15288437
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:2734	keratosis follicularis		ISO	RGD:731733	D	RGD:7240710	20260722	OMIM			
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:2734	keratosis follicularis		ISO	RGD:731733	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DARIER DISEASE | ClinVar Annotator: match by term: Darier disease | ClinVar Annotator: match by term: Darier's disease | ClinVar Annotator: match by term: Keratosis follicularis	PMID:10441323|PMID:10441324|PMID:12975374|PMID:15186327|PMID:16467572|PMID:16766529|PMID:17635506|PMID:19528419|PMID:21519848|PMID:21527373|PMID:23356892|PMID:25741868|PMID:28492532|PMID:30345710|PMID:39434542
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:2856	euthyroid sick syndrome	treatment	ISO	RGD:2174	D	RGD:9068941	20200609	RGD		associated with congestive heart failure	PMID:27737323|REF_RGD_ID:13782084
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:3070	high grade glioma		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:4362	cervical cancer		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:6000	congestive heart failure		ISO	RGD:2174	D	RGD:9068941	20200609	RGD			PMID:21691940|REF_RGD_ID:6903963
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:6000	congestive heart failure		ISO	RGD:731733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19776660
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:630	genetic disease		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:2174	D	RGD:9068941	20200609	RGD			PMID:27144451|REF_RGD_ID:13782086
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:731733	D	RGD:9068941	20200609	RGD			PMID:23804254|REF_RGD_ID:13782089
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2174	D	RGD:9068941	20200609	RGD		protein:decreased expression:tail, skeletal muscle	PMID:21930674|REF_RGD_ID:13782071
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9001636	Darier Disease, Segmental		ISO	RGD:731733	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DARIER DISEASE, SEGMENTAL	
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9001956	Darier Disease, Acral Hemorrhagic Type		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DARIER DISEASE, ACRAL HEMORRHAGIC TYPE | ClinVar Annotator: match by term: Darier disease, acral hemorrhagic type	PMID:10441324|PMID:16467572|PMID:16766529|PMID:17635506|PMID:23356892|PMID:25741868|PMID:28492532
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9002514	Neointima	treatment	ISO	RGD:731733	D	RGD:9068941	20200609	RGD			PMID:23535897|REF_RGD_ID:13782090
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:731733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11679415
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:2174	D	RGD:9068941	20200609	RGD			PMID:29792884|REF_RGD_ID:13782078
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9005141	Ventricular Tachycardia	susceptibility	ISO	RGD:731733	D	RGD:9068941	20200609	RGD		associated with heart failure;DNA:SNP: :rs186056(human)	PMID:24048583|REF_RGD_ID:13507307
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2174	D	RGD:9068941	20200609	RGD			PMID:20122173|PMID:28483572|REF_RGD_ID:12910731|REF_RGD_ID:13782130
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2174	D	RGD:9068941	20200609	RGD		protein:increased carbonylation:heart	PMID:21300842|REF_RGD_ID:6904139
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:731733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9005725	Iron Overload		ISO	RGD:2174	D	RGD:9068941	20200609	RGD		associated with type 2 diabetes mellitus	PMID:27222135|REF_RGD_ID:13782085
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:2174	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21441944|REF_RGD_ID:6771209
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:731733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16685413
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9007346	Cachexia		ISO	RGD:2174	D	RGD:9068941	20200609	RGD		associated with hepatocellular carcinoma	PMID:23200745|REF_RGD_ID:13782066
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9007558	Acute Experimental Pancreatitis	treatment	ISO	RGD:2174	D	RGD:9068941	20200609	RGD			PMID:18416460|REF_RGD_ID:13782074
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:731733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10734148
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:2174	D	RGD:9068941	20200609	RGD			PMID:28637456|REF_RGD_ID:13782080
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9009352	Rhabdomyolysis 2		ISO	RGD:731733	D	RGD:7240710	20260722	OMIM			
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9009352	Rhabdomyolysis 2		ISO	RGD:731733	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RHABDOMYOLYSIS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Rhabdomyolysis, susceptibility to, 2	PMID:25741868
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2174	D	RGD:9068941	20200609	RGD			PMID:22009485|PMID:27222135|REF_RGD_ID:13782085|REF_RGD_ID:6771327
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2174	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:heart left ventricle	PMID:21216827|REF_RGD_ID:6892953
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
8799698	Atp2a2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9767	myocardial stunning		ISO	RGD:731733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16317512
8799725	Has3	hyaluronan synthase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8799725	Has3	hyaluronan synthase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350380	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8799725	Has3	hyaluronan synthase 3	gene	DOID:3275	thymoma		ISO	RGD:1350380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8799725	Has3	hyaluronan synthase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1350380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8799725	Has3	hyaluronan synthase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1350380	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8799725	Has3	hyaluronan synthase 3	gene	DOID:6432	pulmonary hypertension		ISO	RGD:628656	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung	PMID:19915162|REF_RGD_ID:9588633
8799725	Has3	hyaluronan synthase 3	gene	DOID:9452	steatotic liver disease		ISO	RGD:1350380	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27042213
8799737	Shisa6	shisa family member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799737	Shisa6	shisa family member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8799751	Agps	alkylglycerone phosphate synthase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8799751	Agps	alkylglycerone phosphate synthase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8799751	Agps	alkylglycerone phosphate synthase	gene	DOID:0110853	rhizomelic chondrodysplasia punctata type 3		ISO	RGD:732011	D	RGD:7240710	20180130	OMIM			
8799751	Agps	alkylglycerone phosphate synthase	gene	DOID:0110853	rhizomelic chondrodysplasia punctata type 3		ISO	RGD:732011	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AGPS-related condition | ClinVar Annotator: match by term: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3 | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 3 | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata, type 3	PMID:11152660|PMID:17576681|PMID:21990100|PMID:24033266|PMID:25197626|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9553082
8799751	Agps	alkylglycerone phosphate synthase	gene	DOID:10534	stomach cancer		ISO	RGD:732011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8799751	Agps	alkylglycerone phosphate synthase	gene	DOID:1324	lung cancer		ISO	RGD:732011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8799751	Agps	alkylglycerone phosphate synthase	gene	DOID:1909	melanoma		ISO	RGD:732011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8799751	Agps	alkylglycerone phosphate synthase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8799751	Agps	alkylglycerone phosphate synthase	gene	DOID:2580	rhizomelic chondrodysplasia punctata		ISO	RGD:732011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8799751	Agps	alkylglycerone phosphate synthase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8799751	Agps	alkylglycerone phosphate synthase	gene	DOID:4362	cervical cancer		ISO	RGD:732011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8799751	Agps	alkylglycerone phosphate synthase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8799751	Agps	alkylglycerone phosphate synthase	gene	DOID:5041	esophageal cancer		ISO	RGD:732011	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8799751	Agps	alkylglycerone phosphate synthase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8799751	Agps	alkylglycerone phosphate synthase	gene	DOID:630	genetic disease		ISO	RGD:732011	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8799751	Agps	alkylglycerone phosphate synthase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8799751	Agps	alkylglycerone phosphate synthase	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:620364	D	RGD:9068941	20200609	RGD			PMID:7407223|REF_RGD_ID:1598794
8799751	Agps	alkylglycerone phosphate synthase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8799751	Agps	alkylglycerone phosphate synthase	gene	DOID:9005474	Experimental Sarcoma		ISO	RGD:620364	D	RGD:9068941	20200609	RGD			PMID:7407223|REF_RGD_ID:1598794
8799751	Agps	alkylglycerone phosphate synthase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8799751	Agps	alkylglycerone phosphate synthase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8799775	Ube2j1	ubiquitin conjugating enzyme E2 J1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8799775	Ube2j1	ubiquitin conjugating enzyme E2 J1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8799775	Ube2j1	ubiquitin conjugating enzyme E2 J1	gene	DOID:0080600	COVID-19		ISO	RGD:1312877	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
8799775	Ube2j1	ubiquitin conjugating enzyme E2 J1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8799775	Ube2j1	ubiquitin conjugating enzyme E2 J1	gene	DOID:4362	cervical cancer		ISO	RGD:1312877	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8799775	Ube2j1	ubiquitin conjugating enzyme E2 J1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312877	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8799775	Ube2j1	ubiquitin conjugating enzyme E2 J1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799775	Ube2j1	ubiquitin conjugating enzyme E2 J1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8799775	Ube2j1	ubiquitin conjugating enzyme E2 J1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8799775	Ube2j1	ubiquitin conjugating enzyme E2 J1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8799775	Ube2j1	ubiquitin conjugating enzyme E2 J1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8799775	Ube2j1	ubiquitin conjugating enzyme E2 J1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312877	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8799775	Ube2j1	ubiquitin conjugating enzyme E2 J1	gene	DOID:9256	colorectal cancer		ISO	RGD:1312877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8799804	Efna2	ephrin A2	gene	DOID:4362	cervical cancer		ISO	RGD:1314277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8799804	Efna2	ephrin A2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8799820	Nherf2	NHERF family PDZ scaffold protein 2	gene	DOID:10763	hypertension		ISO	RGD:620380	D	RGD:9068941	20200609	RGD			PMID:15311100|REF_RGD_ID:1580741
8799820	Nherf2	NHERF family PDZ scaffold protein 2	gene	DOID:10763	hypertension		ISO	RGD:733001	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:22228705
8799820	Nherf2	NHERF family PDZ scaffold protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8799820	Nherf2	NHERF family PDZ scaffold protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799820	Nherf2	NHERF family PDZ scaffold protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8799841	Idh3a	isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8799841	Idh3a	isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha	gene	DOID:0112147	retinitis pigmentosa 90		ISO	RGD:733177	D	RGD:7240710	20200930	OMIM			
8799841	Idh3a	isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha	gene	DOID:0112147	retinitis pigmentosa 90		ISO	RGD:733177	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IDH3A-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 90 | ClinVar Annotator: match by term: Retinitis pigmentosa 90	PMID:25741868|PMID:28058510|PMID:28412069|PMID:28492532|PMID:31012789|PMID:31456290|PMID:34906470|PMID:40244231
8799841	Idh3a	isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha	gene	DOID:10534	stomach cancer		ISO	RGD:733177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8799841	Idh3a	isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:733177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:28412069|PMID:28492532|PMID:31456290|PMID:34906470
8799841	Idh3a	isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8799841	Idh3a	isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799841	Idh3a	isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8799841	Idh3a	isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha	gene	DOID:8398	osteoarthritis		ISO	RGD:733177	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8799841	Idh3a	isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha	gene	DOID:8501	fundus dystrophy		ISO	RGD:733177	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
8799841	Idh3a	isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8799862	Cd164l2	CD164 molecule like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799862	Cd164l2	CD164 molecule like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8799876	Gpr33	G protein-coupled receptor 33	gene	DOID:9001254	Epidermolysis Bullosa Simplex 5D with Nail Dystrophy		ISO	RGD:1351733	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy	
8799887	Zfp3	ZFP3 zinc finger protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8799887	Zfp3	ZFP3 zinc finger protein	gene	DOID:1909	melanoma		ISO	RGD:1346211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8799887	Zfp3	ZFP3 zinc finger protein	gene	DOID:4362	cervical cancer		ISO	RGD:1346211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8799887	Zfp3	ZFP3 zinc finger protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8799887	Zfp3	ZFP3 zinc finger protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8799895	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:0050120	hemophagocytic lymphohistiocytosis		ISO	RGD:1313140	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374066
8799895	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8799895	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:0070662	subcutaneous panniculitis-like T-cell lymphoma		ISO	RGD:1313140	D	RGD:7240710	20190515	OMIM			
8799895	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:0070662	subcutaneous panniculitis-like T-cell lymphoma		ISO	RGD:1313140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HAVCR2-related condition | ClinVar Annotator: match by term: Subcutaneous panniculitis-like T-cell lymphoma	PMID:25741868|PMID:28492532
8799895	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:1115	sarcoma		ISO	RGD:1313140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8799895	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:1485	cystic fibrosis		ISO	RGD:1313140	D	RGD:9068941	20200609	RGD			PMID:21263071|REF_RGD_ID:5135530
8799895	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:1305233	D	RGD:9068941	20200609	RGD			PMID:24771108|REF_RGD_ID:9686115
8799895	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:2841	asthma		ISO	RGD:1313141	D	RGD:9068941	20200609	RGD			PMID:17517968|REF_RGD_ID:5135525
8799895	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1313140	D	RGD:9068941	20200609	RGD			PMID:21382414|REF_RGD_ID:5135524
8799895	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:3275	thymoma		ISO	RGD:1313140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8799895	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:4450	renal cell carcinoma	susceptibility	ISO	RGD:1313140	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :-574G>T, +4259T>G (human)	PMID:22472081|REF_RGD_ID:7245505
8799895	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799895	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1313140	D	RGD:9068941	20201117	RGD		associated with hepatitis B;DNA:SNP: :  ���1516  G>T (human)	PMID:27034168|REF_RGD_ID:40818257
8799895	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:1313140	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: : +4259T>G (human)	PMID:22472081|REF_RGD_ID:7245505
8799895	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1305233	D	RGD:9068941	20200609	RGD		mRNA,protein:altered expression:bone:	PMID:25264706|REF_RGD_ID:9686117
8799895	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1305233	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord:	PMID:15913792|REF_RGD_ID:9686113
8799895	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1313141	D	RGD:9068941	20200609	RGD			PMID:11823861|REF_RGD_ID:9686086
8799895	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1305233	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:lung:	PMID:24508263|REF_RGD_ID:9686116
8799895	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1313140	D	RGD:9068941	20200609	RGD		mRNA:increased expression:Leukocytes, Mononuclear:	PMID:22172823|REF_RGD_ID:7245954
8799895	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:9006647	Experimental Autoimmune Neuritis	disease_progression	ISO	RGD:1305233	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:sciatic nerve:	PMID:21784136|REF_RGD_ID:9686114
8799895	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:9007356	Eczema		ISO	RGD:1313140	D	RGD:9068941	20200609	RGD			PMID:16159638|REF_RGD_ID:5128852
8799895	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL	PMID:25741868
8799917	Surf4	surfeit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8799917	Surf4	surfeit 4	gene	DOID:1909	melanoma		ISO	RGD:1322534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8799917	Surf4	surfeit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799917	Surf4	surfeit 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1322534	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8799917	Surf4	surfeit 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:0060058	lymphoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:0070455	hereditary spastic paraplegia 79A		ISO	RGD:733510	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA | ClinVar Annotator: match by term: Spastic paraplegia 79A, autosomal dominant | ClinVar Annotator: match by term: Spastic paraplegia 79A, autosomal dominant, with ataxia	PMID:25741868|PMID:28492532|PMID:35986737|PMID:39030458|PMID:41503587
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:0070455	hereditary spastic paraplegia 79A	susceptibility	ISO	RGD:733510	D	RGD:7240710	20260729	OMIM			
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:0112344	hereditary spastic paraplegia 79B		ISO	RGD:733510	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 79B, AUTOSOMAL RECESSIVE	PMID:10563640|PMID:17287139|PMID:19683447|PMID:19864305|PMID:21251915|PMID:22839974|PMID:23359680|PMID:25741868|PMID:28492532
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:0112344	hereditary spastic paraplegia 79B	susceptibility	ISO	RGD:733510	D	RGD:7240710	20260729	OMIM			
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:10534	stomach cancer		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stomach cancer	
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733510	D	RGD:9068941	20200609	RGD			PMID:14722078|REF_RGD_ID:1580538
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:1324	lung cancer		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:1891	optic nerve disease		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic neuropathy	
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:2367	neuroaxonal dystrophy		ISO	RGD:736277	D	RGD:9068941	20200609	RGD		DNA:deletion	PMID:11555633|REF_RGD_ID:1302546
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:2394	ovarian cancer		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:3275	thymoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:733510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17094902
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:4866	salivary gland adenoid cystic carcinoma		ISO	RGD:733510	D	RGD:9068941	20260618	RGD		DNA:hypermethylation:promoter	PMID:32120844|REF_RGD_ID:736668111
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:5679	retinal disease		ISO	RGD:3928	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:retina	PMID:18836575|REF_RGD_ID:5490154
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:574	peripheral nervous system disease		ISO	RGD:733510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16797537
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:6039	uveal melanoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:630	genetic disease		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:733510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16965602
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:733510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15930319
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:736277	D	RGD:9068941	20200609	RGD		DNA:deletion	PMID:11555633|REF_RGD_ID:1302546
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:9000495	Tremor		ISO	RGD:733510	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Action tremor	PMID:25741868
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:9002563	Gait Ataxia		ISO	RGD:733510	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:9004866	Ataxia		ISO	RGD:733510	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:9006626	Parkinson's Disease 5		ISO	RGD:733510	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Parkinson disease 5, autosomal dominant, susceptibility to	PMID:10563640|PMID:17287139|PMID:19683447|PMID:19864305|PMID:21251915|PMID:22839974|PMID:25741868|PMID:28492532
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:9006626	Parkinson's Disease 5	susceptibility	ISO	RGD:733510	D	RGD:7240710	20260729	OMIM			
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8799930	Uchl1	ubiquitin C-terminal hydrolase L1	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:733510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18958481
8799943	Htr6	5-hydroxytryptamine receptor 6	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:733226	D	RGD:9068941	20200806	RGD		DNA:silent mutation:cds: 267C>T (human)	PMID:10624811|REF_RGD_ID:1358662
8799943	Htr6	5-hydroxytryptamine receptor 6	gene	DOID:5419	schizophrenia		ISO	RGD:733226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12165372
8799943	Htr6	5-hydroxytryptamine receptor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799943	Htr6	5-hydroxytryptamine receptor 6	gene	DOID:670	amphetamine abuse		ISO	RGD:733226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20705401
8799943	Htr6	5-hydroxytryptamine receptor 6	gene	DOID:8646	substance-induced psychosis		ISO	RGD:733226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20705401
8799943	Htr6	5-hydroxytryptamine receptor 6	gene	DOID:9008023	Memory Disorders		ISO	RGD:733226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19733250
8799971	Cer1	cerberus 1, DAN family BMP antagonist	gene	DOID:2394	ovarian cancer		ISO	RGD:1347243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8799971	Cer1	cerberus 1, DAN family BMP antagonist	gene	DOID:9002407	Spinal Fractures	susceptibility	ISO	RGD:1347243	D	RGD:9068941	20200716	RGD		DNA:SNPs: :rs3747532, rs1494360(human)	PMID:19113921|REF_RGD_ID:35673321
8799990	Adi1	acireductone dioxygenase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8799990	Adi1	acireductone dioxygenase 1	gene	DOID:1324	lung cancer		ISO	RGD:1602478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8799990	Adi1	acireductone dioxygenase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602478	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8799990	Adi1	acireductone dioxygenase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8799990	Adi1	acireductone dioxygenase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799990	Adi1	acireductone dioxygenase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1602478	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17786183
8799990	Adi1	acireductone dioxygenase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602478	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8799990	Adi1	acireductone dioxygenase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8799998	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313339	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8799998	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8799998	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:1115	sarcoma		ISO	RGD:1313339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8799998	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1313339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8799998	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:1909	melanoma		ISO	RGD:1313339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8799998	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:3275	thymoma		ISO	RGD:1313339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8799998	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8799998	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8799998	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8799998	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8799998	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8799998	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800031	Acod1	aconitate decarboxylase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2292071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8800031	Acod1	aconitate decarboxylase 1	gene	DOID:1107	esophageal carcinoma		ISO	RGD:2292071	D	RGD:9068941	20250116	RGD		mRNA:increased expression:esophagus (human)	PMID:37793345|REF_RGD_ID:596992333
8800031	Acod1	aconitate decarboxylase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:2292071	D	RGD:9068941	20250116	RGD		mRNA:increased expression:cranioceervical (human)	PMID:37793345|REF_RGD_ID:596992333
8800031	Acod1	aconitate decarboxylase 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:2292071	D	RGD:9068941	20250116	RGD		mRNA:increased expression:macrophage (human)	PMID:37793345|REF_RGD_ID:596992333
8800031	Acod1	aconitate decarboxylase 1	gene	DOID:9008344	Invasive Breast Carcinoma		ISO	RGD:2292071	D	RGD:9068941	20250116	RGD		mRNA, protein:increased expression:breast cancer tumor (human)	PMID:37793345|REF_RGD_ID:596992333
8800045	Stc1	stanniocalcin 1	gene	DOID:3275	thymoma		ISO	RGD:730961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8800045	Stc1	stanniocalcin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:730961	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8800045	Stc1	stanniocalcin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800045	Stc1	stanniocalcin 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:730961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8800045	Stc1	stanniocalcin 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:621776	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebral cortex	PMID:15485913|REF_RGD_ID:2324700
8800045	Stc1	stanniocalcin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800053	Palm	paralemmin	gene	DOID:1324	lung cancer		ISO	RGD:1344376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8800053	Palm	paralemmin	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1344376	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8800053	Palm	paralemmin	gene	DOID:3275	thymoma		ISO	RGD:1344376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8800053	Palm	paralemmin	gene	DOID:4362	cervical cancer		ISO	RGD:1344376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8800053	Palm	paralemmin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800053	Palm	paralemmin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800067	Iqcf3	IQ motif containing F3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8800074	Akirin1	akirin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800074	Akirin1	akirin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8800074	Akirin1	akirin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800101	Btbd2	BTB domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8800101	Btbd2	BTB domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1344972	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8800101	Btbd2	BTB domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1344972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8800101	Btbd2	BTB domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1344972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8800101	Btbd2	BTB domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1344972	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8800101	Btbd2	BTB domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1344972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8800101	Btbd2	BTB domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800101	Btbd2	BTB domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344972	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8800101	Btbd2	BTB domain containing 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:14698817	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
8800101	Btbd2	BTB domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800101	Btbd2	BTB domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8800117	Polr2d	RNA polymerase II subunit D	gene	DOID:1909	melanoma		ISO	RGD:1318411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8800117	Polr2d	RNA polymerase II subunit D	gene	DOID:3275	thymoma		ISO	RGD:1318411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8800117	Polr2d	RNA polymerase II subunit D	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8800117	Polr2d	RNA polymerase II subunit D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800130	Psors1c2	psoriasis susceptibility 1 candidate 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8800130	Psors1c2	psoriasis susceptibility 1 candidate 2	gene	DOID:9538	multiple myeloma		ISO	RGD:1349813	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23955597
8800139	Ca6	carbonic anhydrase 6	gene	DOID:4362	cervical cancer		ISO	RGD:1323700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8800139	Ca6	carbonic anhydrase 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:14698802	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
8800139	Ca6	carbonic anhydrase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800139	Ca6	carbonic anhydrase 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1323700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8800159	Derl1	derlin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8800159	Derl1	derlin 1	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1346784	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25811541
8800159	Derl1	derlin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8800159	Derl1	derlin 1	gene	DOID:1324	lung cancer		ISO	RGD:1346784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8800159	Derl1	derlin 1	gene	DOID:1909	melanoma		ISO	RGD:1346784	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
8800159	Derl1	derlin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8800159	Derl1	derlin 1	gene	DOID:3275	thymoma		ISO	RGD:1346784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8800159	Derl1	derlin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8800159	Derl1	derlin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800159	Derl1	derlin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8800159	Derl1	derlin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8800159	Derl1	derlin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800159	Derl1	derlin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8800184	Hspa2	heat shock protein family A (Hsp70) member 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:735843	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
8800184	Hspa2	heat shock protein family A (Hsp70) member 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:735843	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8800190	Erh	ERH mRNA splicing and mitosis factor	gene	DOID:10534	stomach cancer		ISO	RGD:1320463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8800190	Erh	ERH mRNA splicing and mitosis factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8800190	Erh	ERH mRNA splicing and mitosis factor	gene	DOID:1115	sarcoma		ISO	RGD:1320463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8800190	Erh	ERH mRNA splicing and mitosis factor	gene	DOID:1909	melanoma		ISO	RGD:1320463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8800190	Erh	ERH mRNA splicing and mitosis factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800213	Drc12	dynein regulatory complex subunit 12 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800213	Drc12	dynein regulatory complex subunit 12 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8800213	Drc12	dynein regulatory complex subunit 12 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1350049	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:0070513	neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities		ISO	RGD:1350049	D	RGD:7240710	20231220	OMIM			
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:0070513	neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities		ISO	RGD:1350049	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities	PMID:25741868|PMID:35468861|PMID:37071997
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1350049	D	RGD:9068941	20200609	RGD		mRNA:increased expression:stomach (human)	PMID:20938052|REF_RGD_ID:11038731
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1350049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:37071997
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:1591	renovascular hypertension	treatment	ISO	RGD:1587490	D	RGD:9068941	20240118	RGD			PMID:26619200|REF_RGD_ID:401940196
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:219	colon cancer		ISO	RGD:1350049	D	RGD:9068941	20200609	RGD		protein:increased expression:colon (human)	PMID:17310252|REF_RGD_ID:11038730
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350049	D	RGD:9068941	20210917	RGD		protein:increased expression:lung epithelium	PMID:23071587|REF_RGD_ID:150429662
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1350049	D	RGD:9068941	20200609	RGD		protein:increased expression:lung (human)	PMID:20682707|REF_RGD_ID:11038729
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1350049	D	RGD:9068941	20210917	RGD			PMID:23071587|REF_RGD_ID:150429662
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1350049	D	RGD:9068941	20210917	RGD			PMID:23071587|REF_RGD_ID:150429662
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1350049	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:5419	schizophrenia		ISO	RGD:1350049	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16223876
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:1587490	D	RGD:9068941	20231221	RGD		protein:increased phosphorylation:heart left ventricle(rat)	PMID:26067684|REF_RGD_ID:11097969
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:630	genetic disease		ISO	RGD:1350049	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:633	myositis		ISO	RGD:1350049	D	RGD:9068941	20200609	RGD		protein:decreased expression:muscle (human)	PMID:16574722|REF_RGD_ID:11038773
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1587490	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:23633480|REF_RGD_ID:9685423
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1350049	D	RGD:9068941	20200609	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:23228155|REF_RGD_ID:11038774
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:8692	myeloid leukemia		ISO	RGD:1350049	D	RGD:9068941	20200609	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:23228155|REF_RGD_ID:11038774
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:8991	cervix uteri carcinoma in situ	disease_progression	ISO	RGD:1350049	D	RGD:9068941	20200609	RGD		associated with Papillomavirus Infections;protein:altered expression:uterine cervix (human)	PMID:19718710|REF_RGD_ID:11039410
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1350049	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085005
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:9002234	Pituitary Neoplasms		ISO	RGD:1350049	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pituitary gland (human)	PMID:23462647|REF_RGD_ID:11038736
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1350049	D	RGD:9068941	20200609	RGD		mRNA:increased expression:epithelium of female gonad (human)	PMID:23748175|REF_RGD_ID:11039469
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1350049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:1587490	D	RGD:9068941	20240118	RGD			PMID:26619200|REF_RGD_ID:401940196
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1621394	D	RGD:9068941	20200609	RGD		protein:increased expression:lung (mouse)	PMID:15390079|REF_RGD_ID:11038777
8800240	Srsf1	serine and arginine rich splicing factor 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1350049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:0080696	Winchester syndrome		ISO	RGD:734118	D	RGD:7240710	20180130	OMIM			
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:0080696	Winchester syndrome		ISO	RGD:734118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MMP14-related condition | ClinVar Annotator: match by term: WINCHESTER SYNDROME | ClinVar Annotator: match by term: Winchester syndrome	PMID:25741868|PMID:28492532
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:10941	intracranial aneurysm		ISO	RGD:734118	D	RGD:9068941	20200609	RGD			PMID:9724118|REF_RGD_ID:1582590
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:1115	sarcoma		ISO	RGD:734118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:11713	diabetic angiopathy		ISO	RGD:734118	D	RGD:9068941	20200609	RGD			PMID:12477149|REF_RGD_ID:1582581
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:734118	D	RGD:9068941	20200609	RGD			PMID:11034943|REF_RGD_ID:1582586
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:734119	D	RGD:9068941	20200609	RGD			PMID:16037568|REF_RGD_ID:1582576
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:13001	carotid stenosis		ISO	RGD:734119	D	RGD:9068941	20200609	RGD			PMID:16147977|REF_RGD_ID:1582575
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:734118	D	RGD:9068941	20200609	RGD		protein:decreased expression:aorta (human)	PMID:16820601|REF_RGD_ID:1582351
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:14323	Marfan syndrome		ISO	RGD:734118	D	RGD:9068941	20200609	RGD		associated with thoracic aortic aneurysm;protein:increased expression:aorta (human)	PMID:16820601|REF_RGD_ID:1582351
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:2316	brain ischemia		ISO	RGD:620198	D	RGD:9068941	20200609	RGD			PMID:15963646|REF_RGD_ID:1582577
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:2349	arteriosclerosis		ISO	RGD:620198	D	RGD:9068941	20200609	RGD			PMID:12526080|REF_RGD_ID:1582580
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:2349	arteriosclerosis		ISO	RGD:734118	D	RGD:9068941	20200609	RGD			PMID:10731924|PMID:12526080|REF_RGD_ID:1582580|REF_RGD_ID:1582588
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:2349	arteriosclerosis		ISO	RGD:734119	D	RGD:9068941	20200609	RGD			PMID:12526080|REF_RGD_ID:1582580
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:734118	D	RGD:9068941	20200609	RGD			PMID:9751409|REF_RGD_ID:2314950
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:620198	D	RGD:9068941	20200609	RGD		mRNA:increased expression:glomerulus	PMID:9848780|REF_RGD_ID:2314955
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:299	adenocarcinoma		ISO	RGD:734118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472143
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:734118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19661247
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:326	ischemia		ISO	RGD:620198	D	RGD:9068941	20200609	RGD			PMID:16077081|REF_RGD_ID:1582563
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:3275	thymoma		ISO	RGD:734118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:3454	brain infarction		ISO	RGD:620198	D	RGD:9068941	20230527	RGD		mRNA:increased expression:brain (rat)	PMID:23251410|REF_RGD_ID:329845556
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:734118	D	RGD:9068941	20200609	RGD			PMID:9158005|REF_RGD_ID:2314951
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:734118	D	RGD:9068941	20220526	RGD		protein:increased expression: esophagus	PMID:24789592|REF_RGD_ID:152600903
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:4362	cervical cancer		ISO	RGD:734118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:620198	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney, macrophage	PMID:10878552|REF_RGD_ID:2314954
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:4914	esophagus adenocarcinoma	onset	ISO	RGD:734118	D	RGD:9068941	20210521	RGD		DNA:SNP:5'utr: (rs2236302) (human)	PMID:21472143|REF_RGD_ID:126925218
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:734118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:5844	myocardial infarction		ISO	RGD:620198	D	RGD:9068941	20200609	RGD			PMID:10773235|REF_RGD_ID:1582587
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:5844	myocardial infarction		ISO	RGD:734118	D	RGD:9068941	20200609	RGD			PMID:16461815|REF_RGD_ID:1582569
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:6000	congestive heart failure	disease_progression	ISO	RGD:620198	D	RGD:9068941	20200609	RGD		protein:increased expression:left ventricle (rat)	PMID:10773235|REF_RGD_ID:1582587
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:630	genetic disease		ISO	RGD:734118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734118	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:33010264
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:734119	D	RGD:9068941	20220825	MouseDO		OMIM:180300	
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:620198	D	RGD:9068941	20200609	RGD			PMID:15300177|REF_RGD_ID:1582579
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:734118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19010778
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:734118	D	RGD:9068941	20200609	RGD			PMID:11877705|REF_RGD_ID:1582584
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:734118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472143
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:9002522	Embolism		ISO	RGD:734118	D	RGD:9068941	20200609	RGD			PMID:15920147|REF_RGD_ID:1582578
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:734119	D	RGD:9068941	20200609	RGD			PMID:16171603|REF_RGD_ID:1582570
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:734118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24014025
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:9005175	Ulcer		ISO	RGD:734118	D	RGD:9068941	20200609	RGD			PMID:12452868|REF_RGD_ID:1582583
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:734118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:734118	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:33010264
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:734118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23804419
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:9008527	Chlamydophila Infections		ISO	RGD:620198	D	RGD:9068941	20200609	RGD			PMID:12526080|REF_RGD_ID:1582580
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:9008527	Chlamydophila Infections		ISO	RGD:734118	D	RGD:9068941	20200609	RGD			PMID:12526080|REF_RGD_ID:1582580
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:9008527	Chlamydophila Infections		ISO	RGD:734119	D	RGD:9068941	20200609	RGD			PMID:12526080|REF_RGD_ID:1582580
8800252	Mmp14	matrix metallopeptidase 14	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:734118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24014025
8800273	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314601	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
8800273	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:1115	sarcoma		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8800273	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:12849	autistic disorder		ISO	RGD:1314601	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:12851639
8800273	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:1324	lung cancer		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8800273	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:1909	melanoma		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8800273	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8800273	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8800273	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:4362	cervical cancer		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8800273	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8800273	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8800273	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:5041	esophageal cancer		ISO	RGD:1314601	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8800273	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8800273	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800273	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:6039	uveal melanoma		ISO	RGD:1314601	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8800273	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800273	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800273	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8800297	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8800297	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1318766	D	RGD:8554872	20220927	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
8800297	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8800297	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8800297	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:1115	sarcoma		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8800297	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:1324	lung cancer		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8800297	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8800297	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:2661	myoepithelioma		ISO	RGD:1318766	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8800297	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:3275	thymoma		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8800297	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8800297	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1318766	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8800297	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318766	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
8800297	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800297	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800297	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800297	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8800326	Slc5a9	solute carrier family 5 member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8800326	Slc5a9	solute carrier family 5 member 9	gene	DOID:1115	sarcoma		ISO	RGD:1322816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8800326	Slc5a9	solute carrier family 5 member 9	gene	DOID:1324	lung cancer		ISO	RGD:1322816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8800326	Slc5a9	solute carrier family 5 member 9	gene	DOID:1909	melanoma		ISO	RGD:1322816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8800326	Slc5a9	solute carrier family 5 member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8800326	Slc5a9	solute carrier family 5 member 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8800326	Slc5a9	solute carrier family 5 member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800357	Mcam	melanoma cell adhesion molecule	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8800357	Mcam	melanoma cell adhesion molecule	gene	DOID:10534	stomach cancer		ISO	RGD:732868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8800357	Mcam	melanoma cell adhesion molecule	gene	DOID:1324	lung cancer		ISO	RGD:732868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8800357	Mcam	melanoma cell adhesion molecule	gene	DOID:1790	malignant mesothelioma		ISO	RGD:732868	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:22784439|PMID:23621518
8800357	Mcam	melanoma cell adhesion molecule	gene	DOID:1790	malignant mesothelioma	disease_progression	ISO	RGD:620463	D	RGD:9068941	20200609	RGD			PMID:23621518|REF_RGD_ID:7364782
8800357	Mcam	melanoma cell adhesion molecule	gene	DOID:1875	impotence		ISO	RGD:620463	D	RGD:9068941	20200609	RGD		protein:decreased expression:penis erectile tissue	PMID:24023647|REF_RGD_ID:7364777
8800357	Mcam	melanoma cell adhesion molecule	gene	DOID:1909	melanoma		ISO	RGD:732868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8800357	Mcam	melanoma cell adhesion molecule	gene	DOID:2377	multiple sclerosis		ISO	RGD:732868	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23595028
8800357	Mcam	melanoma cell adhesion molecule	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:732868	D	RGD:9068941	20200609	RGD			PMID:23649916|REF_RGD_ID:7364780
8800357	Mcam	melanoma cell adhesion molecule	gene	DOID:4362	cervical cancer		ISO	RGD:732868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8800357	Mcam	melanoma cell adhesion molecule	gene	DOID:438	autoimmune disease of the nervous system		ISO	RGD:732868	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23595028
8800357	Mcam	melanoma cell adhesion molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800357	Mcam	melanoma cell adhesion molecule	gene	DOID:6039	uveal melanoma	disease_progression	ISO	RGD:732868	D	RGD:9068941	20200609	RGD			PMID:19958117|REF_RGD_ID:7364775
8800357	Mcam	melanoma cell adhesion molecule	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8800357	Mcam	melanoma cell adhesion molecule	gene	DOID:9001579	Neurogenic Inflammation		ISO	RGD:732868	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23595028
8800357	Mcam	melanoma cell adhesion molecule	gene	DOID:9001834	Peritoneal Neoplasms		ISO	RGD:732868	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22784439|PMID:23621518
8800357	Mcam	melanoma cell adhesion molecule	gene	DOID:9001929	Hypoglossal Nerve Injuries		ISO	RGD:620463	D	RGD:9068941	20200609	RGD			PMID:10076889|REF_RGD_ID:7364787
8800357	Mcam	melanoma cell adhesion molecule	gene	DOID:9002884	Emphysema		ISO	RGD:620463	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:23649916|REF_RGD_ID:7364780
8800357	Mcam	melanoma cell adhesion molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800357	Mcam	melanoma cell adhesion molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800379	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8800379	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8800379	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8800379	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:1909	melanoma		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8800379	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8800379	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:3275	thymoma		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8800379	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8800379	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8800379	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8800379	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800379	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8800379	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800379	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800397	Guf1	GTP binding elongation factor GUF1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8800397	Guf1	GTP binding elongation factor GUF1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8800397	Guf1	GTP binding elongation factor GUF1	gene	DOID:0080427	developmental and epileptic encephalopathy 40		ISO	RGD:1602319	D	RGD:7240710	20190315	OMIM			
8800397	Guf1	GTP binding elongation factor GUF1	gene	DOID:0080427	developmental and epileptic encephalopathy 40		ISO	RGD:1602319	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 40 | ClinVar Annotator: match by term: GUF1-related condition	PMID:25741868|PMID:28492532|PMID:30945278
8800397	Guf1	GTP binding elongation factor GUF1	gene	DOID:10534	stomach cancer		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8800397	Guf1	GTP binding elongation factor GUF1	gene	DOID:1115	sarcoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8800397	Guf1	GTP binding elongation factor GUF1	gene	DOID:1324	lung cancer		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	
8800397	Guf1	GTP binding elongation factor GUF1	gene	DOID:1909	melanoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8800397	Guf1	GTP binding elongation factor GUF1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8800397	Guf1	GTP binding elongation factor GUF1	gene	DOID:2843	long QT syndrome		ISO	RGD:1602319	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8800397	Guf1	GTP binding elongation factor GUF1	gene	DOID:3070	high grade glioma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8800397	Guf1	GTP binding elongation factor GUF1	gene	DOID:4362	cervical cancer		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8800397	Guf1	GTP binding elongation factor GUF1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8800397	Guf1	GTP binding elongation factor GUF1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8800397	Guf1	GTP binding elongation factor GUF1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800397	Guf1	GTP binding elongation factor GUF1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8800397	Guf1	GTP binding elongation factor GUF1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8800397	Guf1	GTP binding elongation factor GUF1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800397	Guf1	GTP binding elongation factor GUF1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8800425	Evx2	even-skipped homeobox 2	gene	DOID:9005586	Synpolydactyly 1		ISO	RGD:1348415	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Synpolydactyly type 1	PMID:25741868
8800431	Il33	interleukin 33	gene	DOID:0050256	angiostrongyliasis		ISO	RGD:1322462	D	RGD:9068941	20201105	RGD			PMID:24076431|REF_RGD_ID:40400715
8800431	Il33	interleukin 33	gene	DOID:0050256	angiostrongyliasis		ISO	RGD:1322462	D	RGD:9068941	20201105	RGD		protein:increased expression:brain:	PMID:23148283|REF_RGD_ID:40400713
8800431	Il33	interleukin 33	gene	DOID:0050589	inflammatory bowel disease	severity	ISO	RGD:1322461	D	RGD:9068941	20201015	RGD			PMID:24491821|REF_RGD_ID:39938952
8800431	Il33	interleukin 33	gene	DOID:0050848	obstructive sleep apnea	severity	ISO	RGD:1322461	D	RGD:9068941	20251218	RGD		protein:increased expression:blood serum	PMID:28960823|REF_RGD_ID:629122708
8800431	Il33	interleukin 33	gene	DOID:0050865	tongue squamous cell carcinoma	disease_progression	ISO	RGD:1322461	D	RGD:9068941	20201016	RGD			PMID:25193287|REF_RGD_ID:39938972
8800431	Il33	interleukin 33	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8800431	Il33	interleukin 33	gene	DOID:0060180	colitis	severity	ISO	RGD:1322461	D	RGD:9068941	20201023	RGD			PMID:28423665|REF_RGD_ID:39939041
8800431	Il33	interleukin 33	gene	DOID:0060180	colitis	severity	ISO	RGD:1322462	D	RGD:9068941	20201030	RGD			PMID:23172891|REF_RGD_ID:40400694
8800431	Il33	interleukin 33	gene	DOID:0060185	Clostridium difficile colitis	severity	ISO	RGD:1322462	D	RGD:9068941	20201105	RGD			PMID:32156806|REF_RGD_ID:40400894
8800431	Il33	interleukin 33	gene	DOID:0060185	Clostridium difficile colitis	treatment	ISO	RGD:1322462	D	RGD:9068941	20201105	RGD			PMID:32156806|REF_RGD_ID:40400894
8800431	Il33	interleukin 33	gene	DOID:0060496	respiratory allergy	treatment	ISO	RGD:1322462	D	RGD:9068941	20201030	RGD			PMID:25424936|REF_RGD_ID:40400692
8800431	Il33	interleukin 33	gene	DOID:0110922	familial hemophagocytic lymphohistiocytosis 2		ISO	RGD:1322462	D	RGD:9068941	20201030	RGD		associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen:	PMID:26518437|REF_RGD_ID:11343232
8800431	Il33	interleukin 33	gene	DOID:10230	aortic atherosclerosis		ISO	RGD:1322461	D	RGD:9068941	20230420	RGD		protein:increased expression:artery:	PMID:31043075|REF_RGD_ID:267986209
8800431	Il33	interleukin 33	gene	DOID:10283	prostate cancer		ISO	RGD:1322461	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8800431	Il33	interleukin 33	gene	DOID:10283	prostate cancer		ISO	RGD:1322461	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8800431	Il33	interleukin 33	gene	DOID:10459	common cold		ISO	RGD:1322461	D	RGD:9068941	20201023	RGD		protein:increased expression:nasal mucus	PMID:28471975|REF_RGD_ID:38596342
8800431	Il33	interleukin 33	gene	DOID:106	pleural tuberculosis		ISO	RGD:1322461	D	RGD:9068941	20201023	RGD		protein:increased expression:pleural fluid:	PMID:23301222|REF_RGD_ID:39939042
8800431	Il33	interleukin 33	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1322462	D	RGD:9068941	20220825	MouseDO		OMIM:608907	
8800431	Il33	interleukin 33	gene	DOID:1115	sarcoma		ISO	RGD:1322461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8800431	Il33	interleukin 33	gene	DOID:11266	Hantavirus hemorrhagic fever with renal syndrome	severity	ISO	RGD:1322461	D	RGD:9068941	20201105	RGD			PMID:25658420|REF_RGD_ID:40400702
8800431	Il33	interleukin 33	gene	DOID:11339	pneumocystosis	treatment	ISO	RGD:1322462	D	RGD:9068941	20201105	RGD			PMID:21220696|REF_RGD_ID:40400892
8800431	Il33	interleukin 33	gene	DOID:11396	pulmonary edema		ISO	RGD:1322461	D	RGD:9068941	20201105	RGD		associated with Plasmodium falciparum malaria;protein:increased expression:lung	PMID:26437894|REF_RGD_ID:11342349
8800431	Il33	interleukin 33	gene	DOID:11573	listeriosis	treatment	ISO	RGD:1322462	D	RGD:9068941	20201030	RGD			PMID:25577440|REF_RGD_ID:40400693
8800431	Il33	interleukin 33	gene	DOID:12053	cryptococcosis		ISO	RGD:1322462	D	RGD:9068941	20200827	RGD		mRNA:increased expression:lung (mouse)	PMID:27596810|REF_RGD_ID:38549345
8800431	Il33	interleukin 33	gene	DOID:12205	dengue disease	severity	ISO	RGD:1322462	D	RGD:9068941	20201015	RGD			PMID:30098206|REF_RGD_ID:39938828
8800431	Il33	interleukin 33	gene	DOID:12365	malaria		ISO	RGD:1322462	D	RGD:9068941	20201015	RGD		protein:increased expression:serum:	PMID:28359899|REF_RGD_ID:39938859
8800431	Il33	interleukin 33	gene	DOID:12662	paracoccidioidomycosis	treatment	ISO	RGD:1322461	D	RGD:9068941	20201015	RGD			PMID:28992214|REF_RGD_ID:39938858
8800431	Il33	interleukin 33	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1322462	D	RGD:9068941	20201105	RGD			PMID:26044350|PMID:28771101|REF_RGD_ID:11342984|REF_RGD_ID:39939029
8800431	Il33	interleukin 33	gene	DOID:13189	gout		ISO	RGD:1322461	D	RGD:9068941	20201105	RGD			PMID:30863362|REF_RGD_ID:40400717
8800431	Il33	interleukin 33	gene	DOID:13767	clonorchiasis		ISO	RGD:1322461	D	RGD:9068941	20201022	RGD		protein:increased expression:serum:	PMID:26944417|REF_RGD_ID:39939001
8800431	Il33	interleukin 33	gene	DOID:13767	clonorchiasis		ISO	RGD:1322462	D	RGD:9068941	20201022	RGD		mRNA,protein:increased expression:liver, serum:	PMID:26944417|REF_RGD_ID:39939001
8800431	Il33	interleukin 33	gene	DOID:1395	schistosomiasis		ISO	RGD:1322462	D	RGD:9068941	20201015	RGD		mRNA,protein:increased expression:liver	PMID:29554131|REF_RGD_ID:39938854
8800431	Il33	interleukin 33	gene	DOID:14069	cerebral malaria		ISO	RGD:1322462	D	RGD:9068941	20201105	RGD		protein:increased expression:brain	PMID:25682948|REF_RGD_ID:40400741
8800431	Il33	interleukin 33	gene	DOID:14069	cerebral malaria	treatment	ISO	RGD:1322462	D	RGD:9068941	20201015	RGD			PMID:25659095|REF_RGD_ID:39938955
8800431	Il33	interleukin 33	gene	DOID:1508	candidiasis	treatment	ISO	RGD:1322461	D	RGD:9068941	20201105	RGD			PMID:22661085|REF_RGD_ID:40400896
8800431	Il33	interleukin 33	gene	DOID:219	colon cancer	treatment	ISO	RGD:1311155	D	RGD:9068941	20201023	RGD		associated with colitis;	PMID:31407335|REF_RGD_ID:39939040
8800431	Il33	interleukin 33	gene	DOID:2841	asthma		ISO	RGD:1322461	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19198610|PMID:21804549|PMID:24241537|PMID:27472835|PMID:29067999
8800431	Il33	interleukin 33	gene	DOID:2841	asthma		ISO	RGD:1322461	D	RGD:9068941	20260131	RGD		protein:increased expression:blood serum	PMID:24960440|REF_RGD_ID:632517872
8800431	Il33	interleukin 33	gene	DOID:2841	asthma	severity	ISO	RGD:1322461	D	RGD:9068941	20201016	RGD		associated with fungal infectious disease	PMID:25746970|REF_RGD_ID:39938968
8800431	Il33	interleukin 33	gene	DOID:2841	asthma	treatment	ISO	RGD:1322462	D	RGD:9068941	20201022	RGD		associated with viral pneumonia;	PMID:28947081|REF_RGD_ID:39939002
8800431	Il33	interleukin 33	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1322462	D	RGD:9068941	20201016	RGD			PMID:28128217|REF_RGD_ID:39938965
8800431	Il33	interleukin 33	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1322462	D	RGD:9068941	20201105	RGD		mRNA,protein:increased expression:lung:	PMID:30952808|REF_RGD_ID:40400740
8800431	Il33	interleukin 33	gene	DOID:3310	atopic dermatitis		ISO	RGD:1322461	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437
8800431	Il33	interleukin 33	gene	DOID:399	tuberculosis		ISO	RGD:1322461	D	RGD:9068941	20201105	RGD		associated with Pleural Effusion;protein:increased expression:pleural biopsy	PMID:25755791|REF_RGD_ID:40400701
8800431	Il33	interleukin 33	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:1322461	D	RGD:9068941	20201030	RGD			PMID:31053540|REF_RGD_ID:40400690
8800431	Il33	interleukin 33	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:1322462	D	RGD:9068941	20201015	RGD		associated with Schistosomiasis Japonica	PMID:31200771|REF_RGD_ID:39938956
8800431	Il33	interleukin 33	gene	DOID:552	pneumonia		ISO	RGD:1322461	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24453940
8800431	Il33	interleukin 33	gene	DOID:557	kidney disease		ISO	RGD:1322461	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21949094
8800431	Il33	interleukin 33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800431	Il33	interleukin 33	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1322461	D	RGD:9068941	20251218	RGD		associated with bronchiectasis;protein:increased expression:lung	PMID:29921553|REF_RGD_ID:629122707
8800431	Il33	interleukin 33	gene	DOID:646	viral encephalitis		ISO	RGD:1322462	D	RGD:9068941	20201008	RGD		mRNA,protein:increased expression:brain,F4/80+ cell	PMID:27334012|REF_RGD_ID:39457934
8800431	Il33	interleukin 33	gene	DOID:750	peptic ulcer disease	susceptibility	ISO	RGD:1322461	D	RGD:9068941	20201015	RGD		associated with Helicobacter Infections;DNA:SNP: : rs1929992(human)	PMID:31491552|REF_RGD_ID:39938849
8800431	Il33	interleukin 33	gene	DOID:824	periodontitis		ISO	RGD:1322462	D	RGD:9068941	20201015	RGD		associated with Gram-Negative Bacterial Infections;mRNA:increased expression:gingvia	PMID:25808546|REF_RGD_ID:39938855
8800431	Il33	interleukin 33	gene	DOID:824	periodontitis	severity	ISO	RGD:1322462	D	RGD:9068941	20201015	RGD		associated with Gram-Negative Bacterial Infections;	PMID:25808546|REF_RGD_ID:39938855
8800431	Il33	interleukin 33	gene	DOID:8469	influenza		ISO	RGD:1322462	D	RGD:9068941	20201105	RGD			PMID:28401938|REF_RGD_ID:40400699
8800431	Il33	interleukin 33	gene	DOID:8566	herpes simplex		ISO	RGD:1322461	D	RGD:9068941	20201022	RGD		protein:increased expression:skin	PMID:26872602|REF_RGD_ID:39939003
8800431	Il33	interleukin 33	gene	DOID:8566	herpes simplex		ISO	RGD:1322462	D	RGD:9068941	20201022	RGD		protein:increased expression:skin	PMID:26872602|REF_RGD_ID:39939003
8800431	Il33	interleukin 33	gene	DOID:8577	ulcerative colitis		ISO	RGD:1322461	D	RGD:9068941	20201015	RGD		mRNA:increased expression:sigmoid colon	PMID:25112700|REF_RGD_ID:39938951
8800431	Il33	interleukin 33	gene	DOID:8577	ulcerative colitis	severity	ISO	RGD:1322461	D	RGD:9068941	20201112	RGD			PMID:21037074|REF_RGD_ID:40813742
8800431	Il33	interleukin 33	gene	DOID:8577	ulcerative colitis	treatment	ISO	RGD:1322462	D	RGD:9068941	20201016	RGD			PMID:28802904|REF_RGD_ID:39938966
8800431	Il33	interleukin 33	gene	DOID:883	parasitic helminthiasis infectious disease	treatment	ISO	RGD:1322462	D	RGD:9068941	20201022	RGD			PMID:25912172|REF_RGD_ID:39939026
8800431	Il33	interleukin 33	gene	DOID:9000099	Experimental Colitis	severity	ISO	RGD:1322462	D	RGD:9068941	20201015	RGD			PMID:25112700|REF_RGD_ID:39938951
8800431	Il33	interleukin 33	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:1322462	D	RGD:9068941	20201023	RGD			PMID:28423665|REF_RGD_ID:39939041
8800431	Il33	interleukin 33	gene	DOID:9000469	Viral Myocarditis	treatment	ISO	RGD:1322462	D	RGD:9068941	20201105	RGD			PMID:28041873|REF_RGD_ID:40400900
8800431	Il33	interleukin 33	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:1322461	D	RGD:9068941	20201015	RGD		mRNA, protein:increased expression:gingiva	PMID:25808546|REF_RGD_ID:39938855
8800431	Il33	interleukin 33	gene	DOID:9001049	Staphylococcal Pneumonia		ISO	RGD:1322462	D	RGD:9068941	20201105	RGD		mRNA:increased expression:lung:	PMID:28401938|REF_RGD_ID:40400699
8800431	Il33	interleukin 33	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322461	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8800431	Il33	interleukin 33	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1322462	D	RGD:9068941	20251218	RGD		protein:increased expression:lung	PMID:29921553|REF_RGD_ID:629122707
8800431	Il33	interleukin 33	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1311155	D	RGD:9068941	20201105	RGD			PMID:29329586|REF_RGD_ID:40400909
8800431	Il33	interleukin 33	gene	DOID:9002433	Schistosomiasis Japonica		ISO	RGD:1322461	D	RGD:9068941	20201022	RGD		protein:increased expression:serum	PMID:22590860|REF_RGD_ID:39939027
8800431	Il33	interleukin 33	gene	DOID:9002433	Schistosomiasis Japonica	severity	ISO	RGD:1322462	D	RGD:9068941	20201105	RGD			PMID:25944738|REF_RGD_ID:40400890
8800431	Il33	interleukin 33	gene	DOID:9002433	Schistosomiasis Japonica	treatment	ISO	RGD:1322462	D	RGD:9068941	20201105	RGD			PMID:25944738|REF_RGD_ID:40400890
8800431	Il33	interleukin 33	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1322461	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20472598
8800431	Il33	interleukin 33	gene	DOID:9002850	Immediate Hypersensitivity		ISO	RGD:1322461	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22967010
8800431	Il33	interleukin 33	gene	DOID:9002992	Nematode Infections		ISO	RGD:1322462	D	RGD:9068941	20201105	RGD		associated with Nippostrongylus brasiliensis infection; mRNA:increased expression:lung	PMID:22331917|REF_RGD_ID:40400742
8800431	Il33	interleukin 33	gene	DOID:9003369	Strongylida Infections		ISO	RGD:1322462	D	RGD:9068941	20201105	RGD		mRNA:increased expression:lung	PMID:22331917|REF_RGD_ID:40400742
8800431	Il33	interleukin 33	gene	DOID:9003603	Hemolysis		ISO	RGD:1322461	D	RGD:9068941	20201030	RGD		associated with sickle cell anemia;protein:increased expression:plasma:	PMID:26107423|REF_RGD_ID:40400691
8800431	Il33	interleukin 33	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1322462	D	RGD:9068941	20201112	RGD		protein:increased expression:cardiomyocyte	PMID:17492053|REF_RGD_ID:40813740
8800431	Il33	interleukin 33	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:1311155	D	RGD:9068941	20201112	RGD			PMID:17492053|REF_RGD_ID:40813740
8800431	Il33	interleukin 33	gene	DOID:9004036	Superinfection		ISO	RGD:1322462	D	RGD:9068941	20201105	RGD		influenza and Pneumonia, Staphylococcal	PMID:28401938|REF_RGD_ID:40400699
8800431	Il33	interleukin 33	gene	DOID:9004484	Sepsis		ISO	RGD:1322461	D	RGD:9068941	20201105	RGD		protein:increased expression:plasma:	PMID:29935165|REF_RGD_ID:40400895
8800431	Il33	interleukin 33	gene	DOID:9004484	Sepsis		ISO	RGD:1322462	D	RGD:9068941	20201022	RGD		protein:increased expression:plasma,lung	PMID:29672927|REF_RGD_ID:39939028
8800431	Il33	interleukin 33	gene	DOID:9004484	Sepsis		ISO	RGD:1322462	D	RGD:9068941	20201105	RGD		protein:increased expression:plasma, peritoneal fluid:	PMID:29935165|REF_RGD_ID:40400895
8800431	Il33	interleukin 33	gene	DOID:9004484	Sepsis	severity	ISO	RGD:1322461	D	RGD:9068941	20201105	RGD			PMID:25665614|REF_RGD_ID:40400739
8800431	Il33	interleukin 33	gene	DOID:9004531	Cardiovirus Infections		ISO	RGD:1322462	D	RGD:9068941	20201105	RGD		mRNA:increased expression:brain:	PMID:18552204|REF_RGD_ID:40400716
8800431	Il33	interleukin 33	gene	DOID:9005724	Fungal Lung Diseases		ISO	RGD:1322462	D	RGD:9068941	20201016	RGD		protein:increased expression:lung	PMID:25746970|REF_RGD_ID:39938968
8800431	Il33	interleukin 33	gene	DOID:9005966	Staphylococcal Skin Infections		ISO	RGD:1322462	D	RGD:9068941	20201105	RGD		mRNA,protein:increased expression:skin	PMID:23892028|REF_RGD_ID:40400893
8800431	Il33	interleukin 33	gene	DOID:9005966	Staphylococcal Skin Infections	treatment	ISO	RGD:1322462	D	RGD:9068941	20201105	RGD			PMID:23892028|REF_RGD_ID:40400893
8800431	Il33	interleukin 33	gene	DOID:9006086	Intervertebral Disc Displacement		ISO	RGD:1311155	D	RGD:9068941	20201105	RGD		protein:increased expression:spinal cord:	PMID:29329586|REF_RGD_ID:40400909
8800431	Il33	interleukin 33	gene	DOID:9006535	Hookworm Infections		ISO	RGD:1322462	D	RGD:9068941	20201015	RGD		mRNA,protein:increased expression:Bronchoalveolar lavage, epithelium, macrophage	PMID:22329990|REF_RGD_ID:39938827
8800431	Il33	interleukin 33	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:1322461	D	RGD:9068941	20201023	RGD		protein:increased expression:nasal mucus	PMID:28471975|REF_RGD_ID:38596342
8800431	Il33	interleukin 33	gene	DOID:9007417	Pseudomonas Infections		ISO	RGD:1322462	D	RGD:9068941	20201105	RGD		mRNA:increased expression:lung:	PMID:28401938|REF_RGD_ID:40400699
8800431	Il33	interleukin 33	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:1322461	D	RGD:9068941	20201022	RGD		mRNA:increased expression:stomach	PMID:31320834|REF_RGD_ID:39939030
8800431	Il33	interleukin 33	gene	DOID:9008114	Helicobacter Infections	severity	ISO	RGD:1322461	D	RGD:9068941	20201015	RGD		associated with Helicobacter Infections;DNA:SNP: : rs1929992(human)	PMID:31491552|REF_RGD_ID:39938849
8800431	Il33	interleukin 33	gene	DOID:9008163	Chronic Hepatitis B	severity	ISO	RGD:1322461	D	RGD:9068941	20201008	RGD			PMID:27180842|REF_RGD_ID:39457933
8800431	Il33	interleukin 33	gene	DOID:9008163	Chronic Hepatitis B	treatment	ISO	RGD:1322462	D	RGD:9068941	20201015	RGD			PMID:25714983|REF_RGD_ID:39938954
8800431	Il33	interleukin 33	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800431	Il33	interleukin 33	gene	DOID:9351	diabetes mellitus		ISO	RGD:1311155	D	RGD:9068941	20201105	RGD		protein:increased expression:serum,ovary	PMID:28412870|REF_RGD_ID:40400904
8800431	Il33	interleukin 33	gene	DOID:9408	acute myocardial infarction		ISO	RGD:1311155	D	RGD:9068941	20201112	RGD			PMID:24837094|REF_RGD_ID:40813741
8800431	Il33	interleukin 33	gene	DOID:9415	allergic asthma		ISO	RGD:1322461	D	RGD:9068941	20251218	RGD		DNA:SNP: :rs7037276	PMID:28266165|REF_RGD_ID:629122693
8800431	Il33	interleukin 33	gene	DOID:9778	irritable bowel syndrome	severity	ISO	RGD:1322461	D	RGD:9068941	20201030	RGD			PMID:23172891|REF_RGD_ID:40400694
8800445	A3galt2	alpha 1,3-galactosyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8800445	A3galt2	alpha 1,3-galactosyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8800445	A3galt2	alpha 1,3-galactosyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800445	A3galt2	alpha 1,3-galactosyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800445	A3galt2	alpha 1,3-galactosyltransferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800458	Syap1	synapse associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8800458	Syap1	synapse associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8800458	Syap1	synapse associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8800458	Syap1	synapse associated protein 1	gene	DOID:3275	thymoma		ISO	RGD:1353710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8800458	Syap1	synapse associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8800458	Syap1	synapse associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800458	Syap1	synapse associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800480	Rtl9	retrotransposon Gag like 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8800480	Rtl9	retrotransposon Gag like 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8800480	Rtl9	retrotransposon Gag like 9	gene	DOID:0111829	X-linked spinocerebellar ataxia 1		ISO	RGD:1352806	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked	PMID:26242992
8800480	Rtl9	retrotransposon Gag like 9	gene	DOID:1909	melanoma		ISO	RGD:1352806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8800480	Rtl9	retrotransposon Gag like 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8800480	Rtl9	retrotransposon Gag like 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800480	Rtl9	retrotransposon Gag like 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800487	Wdr6	WD repeat domain 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8800487	Wdr6	WD repeat domain 6	gene	DOID:10534	stomach cancer		ISO	RGD:1316962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8800487	Wdr6	WD repeat domain 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8800487	Wdr6	WD repeat domain 6	gene	DOID:4362	cervical cancer		ISO	RGD:1316962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8800487	Wdr6	WD repeat domain 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8800487	Wdr6	WD repeat domain 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800487	Wdr6	WD repeat domain 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800487	Wdr6	WD repeat domain 6	gene	DOID:9007661	Dwarfism		ISO	RGD:1316962	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:0051064	left ventricular failure		ISO	RGD:732557	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25488258
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:0080600	COVID-19		ISO	RGD:732557	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:732557	D	RGD:9068941	20200609	RGD			PMID:24825319|REF_RGD_ID:13504672
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:10283	prostate cancer		ISO	RGD:732557	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs7250897 (human)	PMID:28977864|REF_RGD_ID:13504673
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:10534	stomach cancer		ISO	RGD:732557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:732557	D	RGD:9068941	20200609	RGD			PMID:24825319|REF_RGD_ID:13504672
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:1826	epilepsy		ISO	RGD:732557	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17893921
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:4362	cervical cancer		ISO	RGD:732557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:5041	esophageal cancer		ISO	RGD:732557	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:5844	myocardial infarction		ISO	RGD:732557	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25488258
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:699	mitochondrial myopathy		ISO	RGD:732557	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8726225
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:732557	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19634143
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:621575	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:19634143|REF_RGD_ID:10003054
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:9007090	Experimental Seizures	treatment	ISO	RGD:621575	D	RGD:9068941	20241214	RGD			PMID:17893921|REF_RGD_ID:10003051
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:732557	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25488258
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:9008514	Psychomotor Disorders		ISO	RGD:732557	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8726225
8800499	Vdac1	voltage dependent anion channel 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800511	Atxn7l3	ataxin 7 like 3	gene	DOID:0070711	Harel-Tora neurodevelopmental syndrome		ISO	RGD:1342958	D	RGD:7240710	20260603	OMIM			
8800511	Atxn7l3	ataxin 7 like 3	gene	DOID:0070711	Harel-Tora neurodevelopmental syndrome		ISO	RGD:1342958	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HAREL-TORA NEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: Harel-Tora neurodevelopmental syndrome	PMID:25741868
8800511	Atxn7l3	ataxin 7 like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8800511	Atxn7l3	ataxin 7 like 3	gene	DOID:3275	thymoma		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8800511	Atxn7l3	ataxin 7 like 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8800511	Atxn7l3	ataxin 7 like 3	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1342958	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
8800511	Atxn7l3	ataxin 7 like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800511	Atxn7l3	ataxin 7 like 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8800511	Atxn7l3	ataxin 7 like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800511	Atxn7l3	ataxin 7 like 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8800511	Atxn7l3	ataxin 7 like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0050567	orofacial cleft		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0050646	distal arthrogryposis		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal arthrogryposis	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314918	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:23033978|PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0060260	ptosis		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0061011	craniosynostosis 3		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coronal craniosynostosis	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0080231	autosomal dominant intellectual developmental disorder 52		ISO	RGD:1314918	D	RGD:7240710	20190315	OMIM			
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0080231	autosomal dominant intellectual developmental disorder 52		ISO	RGD:1314918	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ASH1L-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 52	PMID:25741868|PMID:28492532|PMID:29276005
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0080855	Parkinsonism		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1314918	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:23033978|PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:10907	microcephaly		ISO	RGD:1314918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25363760|PMID:25741868|PMID:28191889|PMID:28263302
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:11155	hypohidrosis		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:11830	myopia		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:11836	clubfoot		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:12176	goiter		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:12270	coloboma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:12849	autistic disorder		ISO	RGD:1314918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25363760|PMID:25741868|PMID:28191889|PMID:28263302
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1596	depressive disorder		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1682	congenital heart disease		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1757	facial hemiatrophy		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hemiatrophy	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1314918	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:29300386
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1891	optic nerve disease		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1924	hypogonadism		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1969	cerebral palsy		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:2030	anxiety disorder		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:2468	psychotic disorder		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:2841	asthma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:3070	high grade glioma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:3087	gingivitis		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:3144	cutis laxa		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:3312	bipolar disorder		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal motor seizure	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:3459	breast carcinoma		ISO	RGD:1314918	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:23033978|PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:480	movement disease		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1314918	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:540	strabismus		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:5419	schizophrenia		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:30564305
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:7998	hyperthyroidism		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:8927	learning disability		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9000053	Headache		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9001031	Retrognathia		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1314918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25363760|PMID:25741868|PMID:28191889|PMID:28263302
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9001471	Anorectal Malformations		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anorectal anomaly	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9001510	Funnel Chest		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9001528	ARTERIAL DISSECTION		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arterial dissection	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9001575	IRIS COLOBOMA		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iris coloboma	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9001733	Tinnitus		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type I malformation	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314918	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1314918	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9003126	Hallucinations		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9003507	Premature Birth		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9003539	Hyperacusis		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9003816	Macrocephaly		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314918	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: syndromic complex neurodevelopmental disorder	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9004538	Hearing Loss		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9004581	Pediatric Obesity		ISO	RGD:1314918	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Childhood obesity	PMID:23033978|PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9004866	Ataxia		ISO	RGD:1314918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25363760|PMID:25741868|PMID:28191889|PMID:28263302
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9005077	Joint Instability		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314918	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:23033978|PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1314918	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27064257
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9007573	Flatfoot		ISO	RGD:1314918	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9007661	Dwarfism		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9007736	Vertigo		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9008023	Memory Disorders		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314918	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9008421	Epistaxis		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9008582	Developmental Disease		ISO	RGD:1314918	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9008589	Hallux Valgus		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:936	brain disease		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9409	diabetes insipidus		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9834	hyperopia		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9840	esotropia		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868
8800539	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9970	obesity		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:0070658	alcohol-associated liver disease	sexual_dimorphism	ISO	RGD:3269	D	RGD:9068941	20250403	RGD		protein:increased expression:liver	PMID:12878926|REF_RGD_ID:598108047
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:0080178	mucositis		ISO	RGD:3269	D	RGD:9068941	20200609	RGD		protein:decreased expression:intestine:	PMID:21080177|REF_RGD_ID:10448991
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:0081385	ataxia-telangiectasia-like disorder 2		ISO	RGD:732094	D	RGD:7240710	20180130	OMIM			
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:0081385	ataxia-telangiectasia-like disorder 2		ISO	RGD:732094	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 | ClinVar Annotator: match by term: PCNA-related condition	PMID:25741868|PMID:28492532
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:10534	stomach cancer	ameliorates	ISO	RGD:732094	D	RGD:9068941	20211029	RGD		human cells in mouse model	PMID:26432329|REF_RGD_ID:150520156
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:11446	sciatic neuropathy		ISO	RGD:3269	D	RGD:9068941	20200609	RGD			PMID:23014974|REF_RGD_ID:10448976
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:11476	osteoporosis		ISO	RGD:3269	D	RGD:9068941	20200609	RGD		protein:increased expression:osteoblast:	PMID:22550338|REF_RGD_ID:10045656
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:12217	Lewy body dementia		ISO	RGD:732094	D	RGD:9068941	20200609	RGD		protein:increased expression:Hippocampal sub ventricular zone,Subgranular layer:	PMID:20665591|REF_RGD_ID:10448971
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:127	leiomyoma		ISO	RGD:732094	D	RGD:9068941	20200609	RGD		protein:increased expression:myometrium	PMID:18000229|REF_RGD_ID:2292498
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:127	leiomyoma	treatment	ISO	RGD:3269	D	RGD:9068941	20200609	RGD			PMID:21896544|REF_RGD_ID:10413890
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:732094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17121042
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:13603	obstructive jaundice	treatment	ISO	RGD:3269	D	RGD:9068941	20200609	RGD			PMID:12917765|REF_RGD_ID:10448973
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:1459	hypothyroidism		ISO	RGD:3269	D	RGD:9068941	20200609	RGD			PMID:21273639|REF_RGD_ID:10448988
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:2154	nephroblastoma	disease_progression	ISO	RGD:732094	D	RGD:9068941	20200609	RGD			PMID:11869017|REF_RGD_ID:2315007
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3269	D	RGD:9068941	20200609	RGD			PMID:9757027|REF_RGD_ID:10448974
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:2316	brain ischemia		ISO	RGD:3269	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:12099899|REF_RGD_ID:729592
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:299	adenocarcinoma		ISO	RGD:732094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19028472
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:3008	invasive ductal carcinoma	severity	ISO	RGD:732094	D	RGD:9068941	20200609	RGD			PMID:8102204|REF_RGD_ID:2315014
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:326	ischemia		ISO	RGD:732094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19458120
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:3571	liver cancer	disease_progression	ISO	RGD:3269	D	RGD:9068941	20220224	RGD		protein:increased expression:liver (rat)	PMID:11797828|REF_RGD_ID:151356973
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:4362	cervical cancer		ISO	RGD:732094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:4440	seminoma	disease_progression	ISO	RGD:732094	D	RGD:9068941	20200609	RGD			PMID:7474604|REF_RGD_ID:2315012
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:4450	renal cell carcinoma	severity	ISO	RGD:732094	D	RGD:9068941	20200609	RGD			PMID:11369057|REF_RGD_ID:2315008
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:3269	D	RGD:9068941	20200609	RGD		protein:increased expression:liver:	PMID:23219601|REF_RGD_ID:10448993
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:3269	D	RGD:9068941	20220520	RGD			PMID:25999787|REF_RGD_ID:152177911
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:687	hepatoblastoma		ISO	RGD:732094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11560253
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:8893	psoriasis		ISO	RGD:732094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10384915
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms	disease_progression	ISO	RGD:732094	D	RGD:9068941	20200609	RGD			PMID:10533299|REF_RGD_ID:2315009
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:9000855	Experimental Radiation Injuries		ISO	RGD:732094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21931560
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:732094	D	RGD:9068941	20200609	RGD		associated with Seminoma	PMID:9143022|REF_RGD_ID:2315011
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:732094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20932960
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:732094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19028472|PMID:19723570
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:9004207	Testicular Neoplasms	disease_progression	ISO	RGD:732094	D	RGD:9068941	20200609	RGD			PMID:7474604|REF_RGD_ID:2315012
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:9004240	Phyllodes Tumor	disease_progression	ISO	RGD:732094	D	RGD:9068941	20200609	RGD			PMID:10374321|REF_RGD_ID:2315010
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:9004422	Chagas Cardiomyopathy		ISO	RGD:3269	D	RGD:9068941	20200609	RGD		protein:increased expression:myocardium:	PMID:12435130|REF_RGD_ID:10448990
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:9004583	Ataxia Telangiectasia Like Disorder		ISO	RGD:732094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:732094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11884234
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:3269	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:mammary gland:	PMID:2567593|REF_RGD_ID:10448972
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:9005396	Intimal Hyperplasia	treatment	ISO	RGD:3269	D	RGD:9068941	20200609	RGD			PMID:8104336|REF_RGD_ID:10448975
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced		ISO	RGD:3269	D	RGD:9068941	20230216	RGD		protein:increased expression:lung (rat)	PMID:26485208|REF_RGD_ID:12910856
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:732095	D	RGD:9068941	20230427	RGD		protein:increased expression:vascular smooth muscle cell carotid artery (mouse)	PMID:25751394|REF_RGD_ID:329328927
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:732094	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20932960
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:9008691	Liver Injury		ISO	RGD:3269	D	RGD:9068941	20200609	RGD			PMID:7906221|REF_RGD_ID:10448980
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:732094	D	RGD:9068941	20200609	RGD			PMID:8098267|REF_RGD_ID:2315013
8800572	Pcna	proliferating cell nuclear antigen	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:1316940	D	RGD:9068941	20200609	RGD		protein:increased expression:mouth mucosa:	PMID:22882088|REF_RGD_ID:9587477
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:10283	prostate cancer		ISO	RGD:1316940	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:10283	prostate cancer		ISO	RGD:1316940	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1316940	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate:	PMID:19309489|REF_RGD_ID:9587461
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:10534	stomach cancer		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:1115	sarcoma		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:3068	glioblastoma		ISO	RGD:1316940	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:24039914|REF_RGD_ID:9587472
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:3070	high grade glioma	disease_progression	ISO	RGD:1316940	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:24039914|REF_RGD_ID:9587472
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:403	mouth disease		ISO	RGD:1316940	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17682004
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:5041	esophageal cancer		ISO	RGD:1316940	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316940	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:8923	skin melanoma	severity	ISO	RGD:1316940	D	RGD:9068941	20200609	RGD		protein:increased expression:skin:	PMID:20178651|REF_RGD_ID:9587476
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:9003216	Salivary Gland Neoplasms	disease_progression	ISO	RGD:1316940	D	RGD:9068941	20200609	RGD		protein:increased expression:salivary gland:	PMID:21109952|REF_RGD_ID:9587467
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316940	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:9008192	Neoplastic Processes		ISO	RGD:1316940	D	RGD:9068941	20200609	RGD		protein:increased expression::	PMID:22882088|REF_RGD_ID:9587477
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800582	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8800610	Cpox	coproporphyrinogen oxidase	gene	DOID:13269	hereditary coproporphyria		ISO	RGD:1323470	D	RGD:7240710	20180130	OMIM			
8800610	Cpox	coproporphyrinogen oxidase	gene	DOID:13269	hereditary coproporphyria		ISO	RGD:1323470	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COPROPORPHYRIA | ClinVar Annotator: match by term: COPROPORPHYRIA, DIGENIC | ClinVar Annotator: match by term: CPOX-related condition | ClinVar Annotator: match by term: CPOX-related disorders | ClinVar Annotator: match by term: Hereditary coproporphyria	PMID:11309681|PMID:12181641|PMID:15896662|PMID:17576681|PMID:21103937|PMID:21231929|PMID:24078084|PMID:25741868|PMID:27959697|PMID:28492532|PMID:30476629|PMID:31589614|PMID:33763395|PMID:9536098|PMID:9888388
8800610	Cpox	coproporphyrinogen oxidase	gene	DOID:3132	porphyria cutanea tarda		ISO	RGD:1323470	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11831056
8800610	Cpox	coproporphyrinogen oxidase	gene	DOID:409	liver disease	susceptibility	ISO	RGD:1323470	D	RGD:9068941	20200609	RGD		Hereditary coproporphyria, OMIM:121300;DNA:transition: :p.G89S	PMID:7849704|REF_RGD_ID:1600955
8800610	Cpox	coproporphyrinogen oxidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800610	Cpox	coproporphyrinogen oxidase	gene	DOID:630	genetic disease		ISO	RGD:1323470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8800610	Cpox	coproporphyrinogen oxidase	gene	DOID:9001983	Harderoporphyria		ISO	RGD:1323470	D	RGD:7240710	20200805	OMIM			
8800610	Cpox	coproporphyrinogen oxidase	gene	DOID:9001983	Harderoporphyria		ISO	RGD:1323470	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HARDEROPORPHYRIA | ClinVar Annotator: match by term: Harderoporphyria	PMID:11309681|PMID:12181641|PMID:17576681|PMID:21231929|PMID:25741868|PMID:27959697|PMID:28492532|PMID:31589614|PMID:33763395|PMID:9454777|PMID:9536098
8800610	Cpox	coproporphyrinogen oxidase	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1311817	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver (rat)	PMID:9173682|REF_RGD_ID:1600958
8800610	Cpox	coproporphyrinogen oxidase	gene	DOID:9005584	Hepatic Porphyrias		ISO	RGD:1311817	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver, mitochondrial inner membrane (rat)	PMID:19482825|REF_RGD_ID:4144824
8800610	Cpox	coproporphyrinogen oxidase	gene	DOID:9005584	Hepatic Porphyrias		ISO	RGD:1323471	D	RGD:9068941	20240127	RGD		protein:decreased activity:liver (mouse)	PMID:2079105|REF_RGD_ID:19165350
8800610	Cpox	coproporphyrinogen oxidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800610	Cpox	coproporphyrinogen oxidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800610	Cpox	coproporphyrinogen oxidase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8800621	Dnajc16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8800621	Dnajc16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8800621	Dnajc16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8800621	Dnajc16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:1909	melanoma		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8800621	Dnajc16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1603691	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	
8800621	Dnajc16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:3070	high grade glioma		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8800621	Dnajc16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800621	Dnajc16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800621	Dnajc16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800621	Dnajc16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8800680	Agk	acylglycerol kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8800680	Agk	acylglycerol kinase	gene	DOID:0080132	Sengers syndrome		ISO	RGD:1352363	D	RGD:7240710	20180130	OMIM			
8800680	Agk	acylglycerol kinase	gene	DOID:0080132	Sengers syndrome		ISO	RGD:1352363	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AGK-related disorder | ClinVar Annotator: match by term: Cardiomyopathy and cataract | ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE) | ClinVar Annotator: match by term: SENGERS SYNDROME | ClinVar Annotator: match by term: Sengers syndrome	PMID:16199547|PMID:17576681|PMID:22277967|PMID:22284826|PMID:23266196|PMID:24088041|PMID:25208612|PMID:25741868|PMID:26633545|PMID:28492532|PMID:28868593|PMID:30634555|PMID:34164355|PMID:34440436|PMID:34948281|PMID:38703036|PMID:9536098
8800680	Agk	acylglycerol kinase	gene	DOID:0110245	cataract 38		ISO	RGD:1352363	D	RGD:7240710	20180130	OMIM			
8800680	Agk	acylglycerol kinase	gene	DOID:0110245	cataract 38		ISO	RGD:1352363	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AGK-Related Disorders | ClinVar Annotator: match by term: AGK-related disorder | ClinVar Annotator: match by term: CATARACT 38 | ClinVar Annotator: match by term: Cataract 38 | ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 5	PMID:16199547|PMID:17576681|PMID:22277967|PMID:22284826|PMID:23266196|PMID:24088041|PMID:25208612|PMID:25640679|PMID:25741868|PMID:26633545|PMID:28492532|PMID:28868593|PMID:29625556|PMID:30634555|PMID:31303091|PMID:34440436|PMID:34948281|PMID:9536098
8800680	Agk	acylglycerol kinase	gene	DOID:0111414	trichohepatoenteric syndrome		ISO	RGD:1352363	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA	PMID:22284826|PMID:23266196|PMID:24088041|PMID:25208612|PMID:25741868|PMID:26633545|PMID:28492532|PMID:28868593
8800680	Agk	acylglycerol kinase	gene	DOID:0111415	trichohepatoenteric syndrome 1		ISO	RGD:1352363	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1	PMID:22284826|PMID:23266196|PMID:24088041|PMID:25208612|PMID:25741868|PMID:26633545|PMID:28492532|PMID:28868593
8800680	Agk	acylglycerol kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8800680	Agk	acylglycerol kinase	gene	DOID:1115	sarcoma		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8800680	Agk	acylglycerol kinase	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	
8800680	Agk	acylglycerol kinase	gene	DOID:1324	lung cancer		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8800680	Agk	acylglycerol kinase	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
8800680	Agk	acylglycerol kinase	gene	DOID:2030	anxiety disorder		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
8800680	Agk	acylglycerol kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8800680	Agk	acylglycerol kinase	gene	DOID:2394	ovarian cancer		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8800680	Agk	acylglycerol kinase	gene	DOID:3650	lactic acidosis		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868|PMID:30634555|PMID:34440436|PMID:34948281
8800680	Agk	acylglycerol kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8800680	Agk	acylglycerol kinase	gene	DOID:480	movement disease		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
8800680	Agk	acylglycerol kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1352363	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8800680	Agk	acylglycerol kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8800680	Agk	acylglycerol kinase	gene	DOID:630	genetic disease		ISO	RGD:1352363	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8800680	Agk	acylglycerol kinase	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1352363	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868|PMID:28492532
8800680	Agk	acylglycerol kinase	gene	DOID:9003132	Sialorrhea		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	
8800680	Agk	acylglycerol kinase	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
8800680	Agk	acylglycerol kinase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8800680	Agk	acylglycerol kinase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:22415731|PMID:24088041|PMID:25741868|PMID:26582918|PMID:26633545
8800680	Agk	acylglycerol kinase	gene	DOID:9008189	Pyelectasis		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:25741868|PMID:30634555|PMID:34440436|PMID:34948281
8800680	Agk	acylglycerol kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800706	Prr11	proline rich 11	gene	DOID:0080600	COVID-19		ISO	RGD:1601861	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8800706	Prr11	proline rich 11	gene	DOID:10534	stomach cancer		ISO	RGD:1601861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8800706	Prr11	proline rich 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8800706	Prr11	proline rich 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8800706	Prr11	proline rich 11	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8800706	Prr11	proline rich 11	gene	DOID:4362	cervical cancer		ISO	RGD:1601861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8800706	Prr11	proline rich 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8800706	Prr11	proline rich 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800706	Prr11	proline rich 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800706	Prr11	proline rich 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8800725	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8800725	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8800725	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:10534	stomach cancer		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8800725	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8800725	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:12556	acute kidney tubular necrosis		ISO	RGD:1315027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31825490
8800725	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:3021	acute kidney failure		ISO	RGD:1315027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31825490
8800725	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:3070	high grade glioma		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8800725	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8800725	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:4362	cervical cancer		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8800725	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1315027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8800725	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800725	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:5844	myocardial infarction		ISO	RGD:1315027	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myocardial infarction, susceptibility to, 1	PMID:24213632
8800725	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8800725	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1315027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8800725	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:9000918	Disease Progression		ISO	RGD:1315027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8800725	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800725	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0002116	pterygium		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pterygium	PMID:17551924|PMID:17555829|PMID:19206169|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:16474404|PMID:25463315|PMID:25741868|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0050469	Costello syndrome		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:25741868
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0050700	cardiomyopathy		ISO	RGD:735645	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:24033266|PMID:24728327|PMID:25741868|PMID:26260725|PMID:26530882|PMID:26580448|PMID:26848617|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:735645	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Diffuse large B cell lymphoma	
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:17551924|PMID:17555829|PMID:19206169|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0050861	colorectal adenocarcinoma	disease_progression	ISO	RGD:735645	D	RGD:9068941	20200609	RGD			PMID:24500602|REF_RGD_ID:11567230
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0050894	ameloblastoma		ISO	RGD:735645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24859340
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:735645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Non-Hodgkin lymphoma	PMID:12068308|PMID:14612909|PMID:17603483|PMID:19010912|PMID:19206169|PMID:20179705|PMID:22142829|PMID:22510884|PMID:23833300|PMID:24033266|PMID:24303953|PMID:24446311|PMID:24920063|PMID:25109408|PMID:26121087|PMID:26343582|PMID:26619011|PMID:27236105|PMID:27276561|PMID:27993330|PMID:28098136|PMID:28581676|PMID:28947956|PMID:29533785|PMID:29933636|PMID:30115695|PMID:33056981|PMID:34331515|PMID:35101336|PMID:36973454
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:735645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0060233	cardiofaciocutaneous syndrome		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome	PMID:11313766|PMID:14612909|PMID:15035987|PMID:16007634|PMID:16439621|PMID:16474404|PMID:16523510|PMID:16804887|PMID:16825433|PMID:16953233|PMID:17366577|PMID:17437909|PMID:17496923|PMID:17551924|PMID:17603483|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18451217|PMID:18794803|PMID:18953432|PMID:19206169|PMID:19376813|PMID:19416762|PMID:19953625|PMID:20186801|PMID:20224900|PMID:20301365|PMID:20301557|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22142829|PMID:22190897|PMID:22495831|PMID:22698809|PMID:22907230|PMID:23026937|PMID:23093928|PMID:23273605|PMID:23644139|PMID:23763990|PMID:23875798|PMID:23907581|PMID:23950000|PMID:24033266|PMID:24283439|PMID:24303953|PMID:24446311|PMID:24451042|PMID:24719372|PMID:24775816|PMID:24800029|PMID:24803665|PMID:24920063|PMID:25348715|PMID:25463315|PMID:25533962|PMID:25741868|PMID:25754625|PMID:26361991|PMID:26582644|PMID:26619011|PMID:26732095|PMID:26795593|PMID:27236105|PMID:27276561|PMID:27329734|PMID:27478040|PMID:27521173|PMID:27993330|PMID:28404629|PMID:28492532|PMID:28512244|PMID:28524057|PMID:28650561|PMID:28783719|PMID:28832562|PMID:28947956|PMID:28991257|PMID:29084544|PMID:29493581|PMID:29522538|PMID:29533785|PMID:29540830|PMID:29907801|PMID:30094826|PMID:30141192|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30820351|PMID:31263281|PMID:31292302|PMID:31474318|PMID:31560489|PMID:31785789|PMID:32005694|PMID:32368696|PMID:33040082|PMID:33128510|PMID:33644862|PMID:33683002|PMID:33795686|PMID:34643321|PMID:34755412|PMID:35101336|PMID:35418823|PMID:35524774|PMID:37392767|PMID:4386970|PMID:5771505
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0060260	ptosis		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:16439621|PMID:17496923|PMID:17551924|PMID:17555829|PMID:17704260|PMID:18042262|PMID:18451217|PMID:19206169|PMID:19416762|PMID:22190897|PMID:23093928|PMID:24033266|PMID:24803665|PMID:25741868|PMID:28492532|PMID:29084544|PMID:30290804|PMID:30581057|PMID:31263281|PMID:31560489
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0060578	Noonan syndrome 1		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Noonan syndrome 1	PMID:11313766|PMID:15035987|PMID:16007634|PMID:16804887|PMID:17437909|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:19206169|PMID:19416762|PMID:20224900|PMID:20774|PMID:20859831|PMID:21063443|PMID:22190897|PMID:22495831|PMID:22698809|PMID:22907230|PMID:23093928|PMID:23644139|PMID:23875798|PMID:23950000|PMID:24033266|PMID:24088041|PMID:24446311|PMID:24803665|PMID:24920063|PMID:25741868|PMID:25754625|PMID:26361991|PMID:26633545|PMID:27276561|PMID:27329734|PMID:27391121|PMID:27940666|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28947956|PMID:28991257|PMID:29095811|PMID:29493581|PMID:29522538|PMID:30290804|PMID:30414707|PMID:30581057|PMID:31069529|PMID:31217210|PMID:31560489|PMID:32368696|PMID:32369273|PMID:33040082|PMID:33128510|PMID:33300679|PMID:33644862|PMID:34573299|PMID:34643321|PMID:35524774|PMID:37138575|PMID:37510243|PMID:37645600
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0060585	Noonan syndrome 7		ISO	RGD:735645	D	RGD:7240710	20180130	OMIM			
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0060585	Noonan syndrome 7		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Noonan syndrome 7	PMID:11313766|PMID:12068308|PMID:14749708|PMID:15035987|PMID:16007634|PMID:16439621|PMID:16804887|PMID:16953233|PMID:17344846|PMID:17437909|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:19206169|PMID:19376813|PMID:19416762|PMID:20224900|PMID:20301557|PMID:20774|PMID:20859831|PMID:21063443|PMID:22190897|PMID:22495831|PMID:22698809|PMID:22907230|PMID:23026937|PMID:23093928|PMID:23644139|PMID:23763990|PMID:23875798|PMID:23907581|PMID:23950000|PMID:24033266|PMID:24088041|PMID:24446311|PMID:24451042|PMID:24728327|PMID:24803665|PMID:24920063|PMID:25741868|PMID:25754625|PMID:26361991|PMID:26619011|PMID:26633545|PMID:26732095|PMID:27276561|PMID:27329734|PMID:27391121|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28650561|PMID:28783719|PMID:28832562|PMID:28947956|PMID:28991257|PMID:29084544|PMID:29493581|PMID:29522538|PMID:29540830|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30820351|PMID:31560489|PMID:32368696|PMID:33040082|PMID:33128510|PMID:33274568|PMID:33300679|PMID:33644862|PMID:34573299|PMID:34643321|PMID:37645600
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral arteriovenous malformation	PMID:31891627
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0080550	Noonan syndrome with multiple lentigines 3		ISO	RGD:735645	D	RGD:7240710	20180130	OMIM			
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0080550	Noonan syndrome with multiple lentigines 3		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LEOPARD syndrome 3	PMID:11313766|PMID:12068308|PMID:12960123|PMID:14749708|PMID:15035987|PMID:15578519|PMID:16007634|PMID:16619251|PMID:16804887|PMID:16953233|PMID:17344846|PMID:17437909|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:19206169|PMID:19416762|PMID:20224900|PMID:20859831|PMID:21063443|PMID:22190897|PMID:22495831|PMID:22698809|PMID:22907230|PMID:23026937|PMID:23644139|PMID:23875798|PMID:23950000|PMID:24033266|PMID:24446311|PMID:24451042|PMID:24728327|PMID:24803665|PMID:24920063|PMID:25741868|PMID:25754625|PMID:26361991|PMID:26619011|PMID:27276561|PMID:27329734|PMID:27391121|PMID:28492532|PMID:28650561|PMID:28832562|PMID:28947956|PMID:28991257|PMID:29493581|PMID:29522538|PMID:30290804|PMID:30414707|PMID:30581057|PMID:31560489|PMID:32368696|PMID:33040082|PMID:33644862
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0080690	RASopathy		ISO	RGD:735645	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:11313766|PMID:12068308|PMID:12198537|PMID:12414817|PMID:12447372|PMID:12460918|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12692057|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14688025|PMID:14749708|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15488754|PMID:15578519|PMID:15687339|PMID:15998781|PMID:16007634|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16199547|PMID:16372351|PMID:16439621|PMID:16474404|PMID:16611712|PMID:16619251|PMID:16772349|PMID:16804887|PMID:16825433|PMID:16953233|PMID:17088437|PMID:17314276|PMID:17344846|PMID:17366577|PMID:17374713|PMID:17437909|PMID:17483702|PMID:17488796|PMID:17496923|PMID:17551924|PMID:17555829|PMID:17576681|PMID:17603482|PMID:17603483|PMID:17703371|PMID:17704260|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18398503|PMID:18413255|PMID:18451217|PMID:18456719|PMID:18470943|PMID:18794803|PMID:18854871|PMID:18953432|PMID:19206169|PMID:19376813|PMID:19416762|PMID:19571295|PMID:19593635|PMID:19735675|PMID:19953625|PMID:20141835|PMID:20186801|PMID:20224900|PMID:20301365|PMID:20301557|PMID:20395089|PMID:20523244|PMID:20735442|PMID:20818844|PMID:20823850|PMID:20859831|PMID:2102266|PMID:21062266|PMID:21063443|PMID:21107320|PMID:21107323|PMID:21135229|PMID:21204800|PMID:21784453|PMID:21871821|PMID:22039425|PMID:22113612|PMID:22190897|PMID:22281684|PMID:22301711|PMID:22495831|PMID:22675565|PMID:22698809|PMID:22876591|PMID:22892241|PMID:22907230|PMID:23026937|PMID:23093928|PMID:23273605|PMID:23302800|PMID:23312806|PMID:23321623|PMID:23352452|PMID:23564332|PMID:23644139|PMID:23680146|PMID:23685455|PMID:23756559|PMID:23763990|PMID:23875798|PMID:23907581|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24037001|PMID:24066114|PMID:24088041|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24458522|PMID:24512911|PMID:24524299|PMID:24670642|PMID:24717435|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24920063|PMID:25035421|PMID:25079330|PMID:25155755|PMID:25180280|PMID:25337068|PMID:25348715|PMID:25463315|PMID:25533962|PMID:25741868|PMID:25754625|PMID:25950823|PMID:26242988|PMID:26260725|PMID:26361991|PMID:26530882|PMID:26580448|PMID:26582644|PMID:26619011|PMID:26633545|PMID:26732095|PMID:26795593|PMID:26848617|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27329734|PMID:27391121|PMID:27478040|PMID:27521173|PMID:27640074|PMID:27940666|PMID:28027327|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28524057|PMID:28650561|PMID:28687512|PMID:28783719|PMID:28832562|PMID:28854169|PMID:28911804|PMID:28947956|PMID:28991257|PMID:29084544|PMID:29095811|PMID:29453417|PMID:29493581|PMID:29522538|PMID:29533785|PMID:29540830|PMID:29595366|PMID:29752777|PMID:29907801|PMID:29925953|PMID:29945942|PMID:30094826|PMID:30181556|PMID:30290804|PMID:30414707|PMID:30525188|PMID:30581057|PMID:30732632|PMID:30820351|PMID:30986545|PMID:31015455|PMID:31069529|PMID:31158244|PMID:31217210|PMID:31263281|PMID:31336229|PMID:31475041|PMID:31515458|PMID:31560489|PMID:31785789|PMID:31891627|PMID:32005694|PMID:32185055|PMID:32368696|PMID:32369273|PMID:3265306|PMID:32746448|PMID:32810930|PMID:32978145|PMID:33004838|PMID:33027564|PMID:33040082|PMID:33128510|PMID:33300679|PMID:33318624|PMID:33522658|PMID:33644862|PMID:33683002|PMID:34411415|PMID:34476331|PMID:34495297|PMID:34573299|PMID:34643321|PMID:35078985|PMID:35524774|PMID:37138575|PMID:37510243|PMID:5586607|PMID:8042262|PMID:9536098
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0080690	RASopathy		ISO	RGD:735645	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:11313766|PMID:12068308|PMID:12198537|PMID:12414817|PMID:12447372|PMID:12460918|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12692057|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14688025|PMID:14749708|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15488754|PMID:15578519|PMID:15687339|PMID:15998781|PMID:16007634|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16199547|PMID:16372351|PMID:16439621|PMID:16474404|PMID:16611712|PMID:16619251|PMID:16772349|PMID:16804887|PMID:16825433|PMID:16953233|PMID:17088437|PMID:17314276|PMID:17344846|PMID:17366577|PMID:17374713|PMID:17437909|PMID:17483702|PMID:17488796|PMID:17496923|PMID:17551924|PMID:17555829|PMID:17576681|PMID:17603482|PMID:17603483|PMID:17703371|PMID:17704260|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18398503|PMID:18413255|PMID:18451217|PMID:18456719|PMID:18470943|PMID:18794803|PMID:18854871|PMID:18953432|PMID:19206169|PMID:19376813|PMID:19416762|PMID:19571295|PMID:19593635|PMID:19735675|PMID:19953625|PMID:20141835|PMID:20186801|PMID:20224900|PMID:20301365|PMID:20301557|PMID:20395089|PMID:20523244|PMID:20735442|PMID:20818844|PMID:20823850|PMID:20859831|PMID:2102266|PMID:21062266|PMID:21063443|PMID:21107320|PMID:21107323|PMID:21135229|PMID:21204800|PMID:21784453|PMID:21871821|PMID:22039425|PMID:22113612|PMID:22190897|PMID:22281684|PMID:22301711|PMID:22495831|PMID:22675565|PMID:22698809|PMID:22876591|PMID:22892241|PMID:22907230|PMID:23026937|PMID:23093928|PMID:23273605|PMID:23302800|PMID:23312806|PMID:23321623|PMID:23352452|PMID:23564332|PMID:23644139|PMID:23680146|PMID:23685455|PMID:23756559|PMID:23763990|PMID:23875798|PMID:23907581|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24037001|PMID:24066114|PMID:24088041|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24458522|PMID:24512911|PMID:24524299|PMID:24670642|PMID:24717435|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24920063|PMID:25035421|PMID:25079330|PMID:25155755|PMID:25180280|PMID:25337068|PMID:25348715|PMID:25463315|PMID:25533962|PMID:25741868|PMID:25754625|PMID:25950823|PMID:26242988|PMID:26260725|PMID:26361991|PMID:26530882|PMID:26580448|PMID:26582644|PMID:26619011|PMID:26633545|PMID:26732095|PMID:26795593|PMID:26848617|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27329734|PMID:27391121|PMID:27478040|PMID:27521173|PMID:27640074|PMID:27940666|PMID:28027327|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28524057|PMID:28650561|PMID:28687512|PMID:28783719|PMID:28832562|PMID:28854169|PMID:28911804|PMID:28947956|PMID:28991257|PMID:29084544|PMID:29095811|PMID:29453417|PMID:29493581|PMID:29522538|PMID:29533785|PMID:29540830|PMID:29595366|PMID:29752777|PMID:29907801|PMID:29925953|PMID:29945942|PMID:30094826|PMID:30181556|PMID:30290804|PMID:30414707|PMID:30525188|PMID:30581057|PMID:30732632|PMID:30820351|PMID:30986545|PMID:31015455|PMID:31069529|PMID:31158244|PMID:31217210|PMID:31263281|PMID:31336229|PMID:31475041|PMID:31515458|PMID:31560489|PMID:31785789|PMID:31891627|PMID:32005694|PMID:32185055|PMID:32368696|PMID:32369273|PMID:3265306|PMID:32746448|PMID:32810930|PMID:32978145|PMID:33004838|PMID:33027564|PMID:33040082|PMID:33128510|PMID:33300679|PMID:33318624|PMID:33522658|PMID:33644862|PMID:33683002|PMID:34411415|PMID:34476331|PMID:34495297|PMID:34573299|PMID:34643321|PMID:35078985|PMID:35524774|PMID:37138575|PMID:37510243|PMID:39434542|PMID:5586607|PMID:8042262|PMID:9536098
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0080690	RASopathy		ISO	RGD:735645	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:11313766|PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12692057|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14688025|PMID:14749708|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15488754|PMID:15578519|PMID:15687339|PMID:15998781|PMID:16007634|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16199547|PMID:16372351|PMID:16439621|PMID:16474404|PMID:16619251|PMID:16772349|PMID:16804887|PMID:16825433|PMID:16953233|PMID:17088437|PMID:17314276|PMID:17344846|PMID:17366577|PMID:17374713|PMID:17437909|PMID:17483702|PMID:17488796|PMID:17496923|PMID:17551924|PMID:17555829|PMID:17576681|PMID:17603482|PMID:17603483|PMID:17703371|PMID:17704260|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18398503|PMID:18413255|PMID:18451217|PMID:18456719|PMID:18470943|PMID:18794803|PMID:18854871|PMID:18953432|PMID:19206169|PMID:19376813|PMID:19416762|PMID:19571295|PMID:19593635|PMID:19735675|PMID:19953625|PMID:20141835|PMID:20186801|PMID:20224900|PMID:20301365|PMID:20301557|PMID:20395089|PMID:20523244|PMID:20735442|PMID:20818844|PMID:20823850|PMID:20859831|PMID:2102266|PMID:21062266|PMID:21063443|PMID:21107320|PMID:21107323|PMID:21135229|PMID:21204800|PMID:21784453|PMID:21871821|PMID:22039425|PMID:22113612|PMID:22190897|PMID:22281684|PMID:22301711|PMID:22495831|PMID:22675565|PMID:22698809|PMID:22876591|PMID:22892241|PMID:22907230|PMID:23026937|PMID:23093928|PMID:23273605|PMID:23302800|PMID:23312806|PMID:23321623|PMID:23352452|PMID:23564332|PMID:23644139|PMID:23680146|PMID:23685455|PMID:23756559|PMID:23763990|PMID:23875798|PMID:23907581|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24037001|PMID:24066114|PMID:24088041|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24458522|PMID:24512911|PMID:24524299|PMID:24670642|PMID:24717435|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24920063|PMID:25035421|PMID:25079330|PMID:25155755|PMID:25180280|PMID:25337068|PMID:25348715|PMID:25463315|PMID:25533962|PMID:25741868|PMID:25754625|PMID:25950823|PMID:26242988|PMID:26260725|PMID:26361991|PMID:26530882|PMID:26580448|PMID:26582644|PMID:26619011|PMID:26633545|PMID:26732095|PMID:26795593|PMID:26848617|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27329734|PMID:27391121|PMID:27478040|PMID:27521173|PMID:27640074|PMID:27940666|PMID:28027327|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28524057|PMID:28650561|PMID:28687512|PMID:28783719|PMID:28832562|PMID:28854169|PMID:28911804|PMID:28947956|PMID:28991257|PMID:29084544|PMID:29095811|PMID:29453417|PMID:29493581|PMID:29522538|PMID:29533785|PMID:29540830|PMID:29595366|PMID:29752777|PMID:29907801|PMID:29925953|PMID:29945942|PMID:30094826|PMID:30181556|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30732632|PMID:30820351|PMID:30986545|PMID:31015455|PMID:31069529|PMID:31158244|PMID:31217210|PMID:31263281|PMID:31336229|PMID:31475041|PMID:31515458|PMID:31560489|PMID:31785789|PMID:31891627|PMID:32005694|PMID:32185055|PMID:32368696|PMID:32369273|PMID:3265306|PMID:32746448|PMID:32810930|PMID:32978145|PMID:33004838|PMID:33027564|PMID:33040082|PMID:33128510|PMID:33300679|PMID:33318624|PMID:33522658|PMID:33644862|PMID:33683002|PMID:34411415|PMID:34476331|PMID:34495297|PMID:34573299|PMID:34643321|PMID:35078985|PMID:35524774|PMID:36303204|PMID:37138575|PMID:37510243|PMID:39434542|PMID:5586607|PMID:8042262|PMID:9536098
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0080690	RASopathy		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies	PMID:11313766|PMID:12068308|PMID:12960123|PMID:14749708|PMID:15035987|PMID:15150094|PMID:15488754|PMID:15578519|PMID:16007634|PMID:16199547|PMID:16439621|PMID:16474404|PMID:16619251|PMID:16804887|PMID:16825433|PMID:16953233|PMID:17314276|PMID:17344846|PMID:17366577|PMID:17437909|PMID:17496923|PMID:17551924|PMID:17555829|PMID:17576681|PMID:17603482|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18451217|PMID:18456719|PMID:18470943|PMID:18953432|PMID:19206169|PMID:19376813|PMID:19416762|PMID:19593635|PMID:19735675|PMID:19953625|PMID:20141835|PMID:20224900|PMID:20301557|PMID:20523244|PMID:20774|PMID:20859831|PMID:2102266|PMID:21062266|PMID:21063443|PMID:21135229|PMID:22142829|PMID:22190897|PMID:22495831|PMID:22675565|PMID:22698809|PMID:22876591|PMID:22907230|PMID:23026937|PMID:23093928|PMID:23644139|PMID:23680146|PMID:23763990|PMID:23833300|PMID:23875798|PMID:23907581|PMID:23950000|PMID:24033266|PMID:24037001|PMID:24066114|PMID:24088041|PMID:24446311|PMID:24451042|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24920063|PMID:25155755|PMID:25348715|PMID:25463315|PMID:25741868|PMID:25754625|PMID:26361991|PMID:26619011|PMID:26633545|PMID:26732095|PMID:26795593|PMID:27276561|PMID:27329734|PMID:27391121|PMID:27478040|PMID:27521173|PMID:27640074|PMID:27993330|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28524057|PMID:28650561|PMID:28783719|PMID:28832562|PMID:28911804|PMID:28947956|PMID:28991257|PMID:29084544|PMID:29493581|PMID:29522538|PMID:29907801|PMID:30094826|PMID:30290804|PMID:30414707|PMID:30525188|PMID:30581057|PMID:30732632|PMID:30820351|PMID:31015455|PMID:31158244|PMID:31263281|PMID:31292302|PMID:31336229|PMID:31475041|PMID:31560489|PMID:31785789|PMID:32005694|PMID:32185055|PMID:32368696|PMID:32746448|PMID:33040082|PMID:33128510|PMID:33300679|PMID:33644862|PMID:34495297|PMID:34573299|PMID:34643321|PMID:34755412|PMID:35078985|PMID:35101336|PMID:35524774|PMID:36303204|PMID:37392767|PMID:37645600|PMID:39434542|PMID:5586607|PMID:9536098
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0080829	low grade glioma		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Low grade glioma	PMID:20156809|PMID:23583981|PMID:27993330|PMID:28679432|PMID:28912153|PMID:30575814|PMID:32164789|PMID:32289278|PMID:40335748
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0110059	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Keratosis pilaris	PMID:16439621|PMID:16474404|PMID:16825433|PMID:18039235|PMID:18413255|PMID:19376813|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532|PMID:33040082
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0110310	hypertrophic cardiomyopathy 4		ISO	RGD:735645	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4	PMID:25741868
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:735645	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:25741868|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:17551924|PMID:17555829|PMID:19206169|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0111460	cardiofaciocutaneous syndrome 1		ISO	RGD:735645	D	RGD:7240710	20191106	OMIM			
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:0111460	cardiofaciocutaneous syndrome 1		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1	PMID:11313766|PMID:15035987|PMID:16007634|PMID:16439621|PMID:16474404|PMID:16523510|PMID:16804887|PMID:16825433|PMID:16953233|PMID:17437909|PMID:17496923|PMID:17551924|PMID:17555829|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18451217|PMID:18953432|PMID:19206169|PMID:19376813|PMID:19416762|PMID:19953625|PMID:20224900|PMID:20774|PMID:20859831|PMID:21063443|PMID:22190897|PMID:22495831|PMID:22698809|PMID:22907230|PMID:23026937|PMID:23093928|PMID:23644139|PMID:23875798|PMID:23950000|PMID:24033266|PMID:24283439|PMID:24446311|PMID:24451042|PMID:24728327|PMID:24803665|PMID:24920063|PMID:25348715|PMID:25463315|PMID:25741868|PMID:25754625|PMID:26361991|PMID:26619011|PMID:26732095|PMID:27276561|PMID:27329734|PMID:27391121|PMID:27478040|PMID:27993330|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28524057|PMID:28650561|PMID:28832562|PMID:28947956|PMID:28991257|PMID:29084544|PMID:29493581|PMID:29522538|PMID:29907801|PMID:30094826|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30732632|PMID:31263281|PMID:31292302|PMID:31474318|PMID:31560489|PMID:32185055|PMID:32368696|PMID:33040082|PMID:33128510|PMID:33644862|PMID:35524774|PMID:36854806|PMID:4386970|PMID:5771505
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:25741868
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:10041	dysplastic nevus syndrome		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: B-K MOLE SYNDROME	PMID:16953233|PMID:19206169|PMID:22495831|PMID:23026937|PMID:24033266|PMID:24446311|PMID:24451042|PMID:24920063|PMID:25741868|PMID:26619011|PMID:27276561|PMID:28492532|PMID:28650561|PMID:28832562|PMID:28947956
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:10376	amblyopia		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:17551924|PMID:17555829|PMID:19206169|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1059	intellectual disability		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:11313766|PMID:16007634|PMID:17437909|PMID:17704260|PMID:18042262|PMID:19206169|PMID:20224900|PMID:22698809|PMID:22907230|PMID:23644139|PMID:23950000|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25754625|PMID:26361991|PMID:27329734|PMID:28492532|PMID:28991257|PMID:29493581|PMID:29522538|PMID:30414707|PMID:32368696|PMID:33040082|PMID:33644862
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1089	tethered spinal cord syndrome		ISO	RGD:735645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Occult spinal dysraphism sequence	PMID:16523510|PMID:16804887|PMID:16825433|PMID:17551924|PMID:18039235|PMID:18413255|PMID:19206169|PMID:23875798|PMID:24033266|PMID:24283439|PMID:25741868|PMID:31474318|PMID:4386970|PMID:5771505
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:11111	hydronephrosis		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:16439621|PMID:17496923|PMID:17551924|PMID:17704260|PMID:18042262|PMID:18451217|PMID:23093928|PMID:24033266|PMID:24803665|PMID:25741868|PMID:28492532|PMID:29084544|PMID:31263281
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1115	sarcoma		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:11162	respiratory failure		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:17366577|PMID:22495831|PMID:24033266|PMID:24719372|PMID:26795593|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:11502	mitral valve insufficiency		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral regurgitation	PMID:19206169|PMID:19416762|PMID:22190897|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30290804|PMID:30581057|PMID:31560489
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:11830	myopia		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:24033266|PMID:25741868
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:11963	esophagitis		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophagitis	PMID:17551924|PMID:17555829|PMID:19206169|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1240	leukemia		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukemia	PMID:16474404|PMID:18042262|PMID:19206169|PMID:25741868
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:12678	hypercalcemia		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercalcemia	PMID:25741868|PMID:27478040|PMID:28492532|PMID:35524774
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome	PMID:16439621|PMID:16474404|PMID:18039235|PMID:18413255|PMID:18953432|PMID:19206169|PMID:22495831|PMID:24446311|PMID:24920063|PMID:25348715|PMID:25741868|PMID:26732095|PMID:27276561|PMID:28492532|PMID:28524057|PMID:28947956|PMID:31292302|PMID:31475041
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:12849	autistic disorder		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:16439621|PMID:16474404|PMID:16825433|PMID:18039235|PMID:18413255|PMID:19376813|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532|PMID:33040082
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1324	lung cancer		ISO	RGD:735645	D	RGD:7240710	20240124	OMIM			
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1324	lung cancer		ISO	RGD:735645	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28783719|PMID:29540830|PMID:30986545|PMID:34411415
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1324	lung cancer		ISO	RGD:735645	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Lung cancer, somatic	PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20186801|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28783719|PMID:29540830|PMID:30986545|PMID:34411415
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1324	lung cancer		ISO	RGD:735645	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20186801|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28783719|PMID:29493581|PMID:29540830|PMID:30986545|PMID:34411415
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1324	lung cancer		ISO	RGD:735645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	PMID:15035987|PMID:16804887|PMID:16953233|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:19206169|PMID:19416762|PMID:20301557|PMID:20395089|PMID:20859831|PMID:21063443|PMID:21871821|PMID:22190897|PMID:22495831|PMID:23026937|PMID:23875798|PMID:23950000|PMID:24033266|PMID:24446311|PMID:24451042|PMID:24920063|PMID:25741868|PMID:26619011|PMID:27276561|PMID:27391121|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28650561|PMID:28832562|PMID:28947956|PMID:30290804|PMID:30581057|PMID:31560489
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1324	lung cancer		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	PMID:11313766|PMID:15035987|PMID:16007634|PMID:16804887|PMID:16953233|PMID:17437909|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:19206169|PMID:19416762|PMID:20224900|PMID:20859831|PMID:21063443|PMID:22190897|PMID:22495831|PMID:22698809|PMID:22907230|PMID:23026937|PMID:23644139|PMID:23875798|PMID:23950000|PMID:24033266|PMID:24446311|PMID:24451042|PMID:24803665|PMID:24920063|PMID:25741868|PMID:25754625|PMID:26361991|PMID:26619011|PMID:27276561|PMID:27329734|PMID:27391121|PMID:28492532|PMID:28650561|PMID:28832562|PMID:28947956|PMID:28991257|PMID:29493581|PMID:29522538|PMID:30290804|PMID:30414707|PMID:30581057|PMID:31560489|PMID:32368696|PMID:33040082|PMID:33644862
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:13620	patent foramen ovale		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:17551924|PMID:17555829|PMID:19206169|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:16439621|PMID:17496923|PMID:17551924|PMID:17704260|PMID:18042262|PMID:18451217|PMID:23093928|PMID:24033266|PMID:24803665|PMID:25741868|PMID:28492532|PMID:29084544|PMID:31263281
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:14175	von Hippel-Lindau disease		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Von Hippel-Lindau syndrome	PMID:25741868
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:14291	Noonan syndrome with multiple lentigines		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines	PMID:19206169|PMID:19416762|PMID:20301557|PMID:22190897|PMID:23763990|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30820351
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:735645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:12068308|PMID:15035987|PMID:18697864|PMID:19010912|PMID:19735675|PMID:20179705|PMID:22142829|PMID:22510884|PMID:23833300|PMID:24033266|PMID:25109408|PMID:26121087|PMID:26343582|PMID:26732095|PMID:27034005|PMID:27993330|PMID:28098136|PMID:28581676|PMID:28783719|PMID:28947956|PMID:29533785|PMID:29933636|PMID:30115695|PMID:30224342|PMID:30867592|PMID:31519698|PMID:32540409|PMID:32553555|PMID:33056981|PMID:34331515|PMID:35101336|PMID:36275468|PMID:36759117|PMID:36973454|PMID:37656784|PMID:38333370|PMID:38479107
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1459	hypothyroidism		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1520	colon carcinoma		ISO	RGD:735645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon	
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1520	colon carcinoma	treatment	ISO	RGD:735645	D	RGD:9068941	20200609	RGD			PMID:22319199|REF_RGD_ID:11567267
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1664	pineoblastoma		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pineoblastoma	PMID:14508525|PMID:21878896|PMID:22142829|PMID:24436047|PMID:27993330|PMID:28912153
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:169	neuroendocrine tumor		ISO	RGD:735645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17341847
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1793	pancreatic cancer		ISO	RGD:735645	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:22871572|REF_RGD_ID:13461863
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1793	pancreatic cancer		ISO	RGD:735646	D	RGD:9068941	20200609	RGD			PMID:22628411|REF_RGD_ID:13462040
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:735646	D	RGD:9068941	20200609	RGD			PMID:18490924|REF_RGD_ID:13451537
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1826	epilepsy		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:15035987|PMID:16372351|PMID:16474404|PMID:16804887|PMID:17551924|PMID:17555829|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:19206169|PMID:20301557|PMID:20859831|PMID:21063443|PMID:22495831|PMID:23875798|PMID:23950000|PMID:24033266|PMID:25741868|PMID:27391121|PMID:28404629|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1826	epilepsy		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11313766|PMID:15035987|PMID:16007634|PMID:16474404|PMID:16804887|PMID:17437909|PMID:17551924|PMID:17555829|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:19206169|PMID:20224900|PMID:20859831|PMID:21063443|PMID:22495831|PMID:22698809|PMID:22907230|PMID:23644139|PMID:23875798|PMID:23950000|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25754625|PMID:26361991|PMID:27329734|PMID:27391121|PMID:28492532|PMID:28991257|PMID:29493581|PMID:29522538|PMID:30414707|PMID:32368696|PMID:33040082|PMID:33644862
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1882	atrial heart septal defect		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:16439621|PMID:17496923|PMID:17551924|PMID:17704260|PMID:18042262|PMID:18451217|PMID:23093928|PMID:24033266|PMID:24803665|PMID:25741868|PMID:28492532|PMID:29084544|PMID:31263281
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1909	melanoma		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Melanoma	PMID:16953233|PMID:17551924|PMID:19206169|PMID:22495831|PMID:23026937|PMID:24033266|PMID:24446311|PMID:24451042|PMID:24920063|PMID:25741868|PMID:26619011|PMID:27276561|PMID:28492532|PMID:28650561|PMID:28832562|PMID:28947956
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1909	melanoma	onset	ISO	RGD:735645	D	RGD:9068941	20200609	RGD		DNA:mutations: :	PMID:25623140|REF_RGD_ID:11567259
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:1909	melanoma	treatment	ISO	RGD:735645	D	RGD:9068941	20200609	RGD			PMID:22319199|REF_RGD_ID:11567267
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:2030	anxiety disorder		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:16439621|PMID:16474404|PMID:16825433|PMID:17551924|PMID:17555829|PMID:18039235|PMID:18042262|PMID:18413255|PMID:19206169|PMID:19376813|PMID:20186801|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532|PMID:33040082
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:2154	nephroblastoma		ISO	RGD:735645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Wilms Tumor	PMID:12068308|PMID:12970315|PMID:14508525|PMID:15035987|PMID:17496922|PMID:19251651|PMID:20008640|PMID:20156809|PMID:21274720|PMID:21479234|PMID:21502544|PMID:21641636|PMID:21878896|PMID:22039425|PMID:22142829|PMID:23020132|PMID:23442159|PMID:23552385|PMID:23583981|PMID:23817572|PMID:24112392|PMID:24127995|PMID:24238153|PMID:24366910|PMID:24436047|PMID:24594804|PMID:25265492|PMID:25346165|PMID:25399551|PMID:25417114|PMID:25741868|PMID:25752754|PMID:25950823|PMID:26014474|PMID:26121087|PMID:26343582|PMID:26796506|PMID:26810070|PMID:26994902|PMID:27404270|PMID:27769870|PMID:27812792|PMID:27993330|PMID:28492532|PMID:28891408|PMID:28912153|PMID:28966033|PMID:28990704|PMID:29105198|PMID:29532523|PMID:29533785|PMID:29615459|PMID:29701169|PMID:29742974|PMID:29763623|PMID:29880043|PMID:30051528|PMID:30099373|PMID:30926558|PMID:31520766|PMID:31617914|PMID:31891627|PMID:32164789|PMID:32289278|PMID:32371339|PMID:32476297|PMID:32605662|PMID:32619305|PMID:33029242|PMID:33056981|PMID:34185076|PMID:34331515|PMID:34476331|PMID:34718782|PMID:35101336|PMID:36067829|PMID:36382112|PMID:37059834
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:16474404|PMID:25463315|PMID:25741868|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:2526	prostate adenocarcinoma		ISO	RGD:735645	D	RGD:9068941	20250116	RGD			PMID:19079609|REF_RGD_ID:2315868
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:2571	Langerhans-cell histiocytosis		ISO	RGD:735646	D	RGD:9068941	20220825	MouseDO		OMIM:246400 | OMIM:604856	
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:12185039	D	RGD:9068941	20260702	OMIA		Transitional cell carcinoma	PMID:15112777|PMID:24936033|PMID:25747698|PMID:25767210|PMID:2593174|PMID:26649430|PMID:30008848|PMID:31627222|PMID:32039002|PMID:34433660|PMID:34878687|PMID:36439482|PMID:37079639|PMID:37570213|PMID:37733700|PMID:38076555|PMID:38088189|PMID:38659202|PMID:38778091|PMID:39047791|PMID:39272320|PMID:40351767|PMID:40360131|PMID:40463261|PMID:40502636|PMID:40636686|PMID:40872680|PMID:41594407|PMID:41879030|PMID:41889014|PMID:41915130|PMID:42188929|PMID:42359562|PMID:998613
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:2679	dysembryoplastic neuroepithelial tumor		ISO	RGD:735645	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:p.V600E(human)	PMID:25346165|REF_RGD_ID:11567238
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:735645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:16523510|PMID:16804887|PMID:16825433|PMID:17551924|PMID:18039235|PMID:18413255|PMID:19206169|PMID:23875798|PMID:24033266|PMID:24283439|PMID:25741868|PMID:31474318|PMID:4386970|PMID:5771505
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:2841	asthma		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:16474404|PMID:20774|PMID:25463315|PMID:25741868|PMID:28492532|PMID:2851224|PMID:28512244|PMID:33128510
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:2843	long QT syndrome		ISO	RGD:735645	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:25741868|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:2871	endometrial carcinoma		ISO	RGD:735645	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3069	malignant astrocytoma		ISO	RGD:735645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23817572
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3069	malignant astrocytoma		ISO	RGD:735645	D	RGD:9068941	20200609	RGD		DNA:rearrangement: :	PMID:19794125|REF_RGD_ID:11069832
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3069	malignant astrocytoma	onset	ISO	RGD:735645	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:p.V600E(human)	PMID:25346165|REF_RGD_ID:11567238
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3070	high grade glioma		ISO	RGD:735645	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:23583981
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3121	gallbladder cancer		ISO	RGD:735645	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gallbladder cancer	
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3234	central nervous system lymphoma		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary central nervous system lymphoma	PMID:27993330
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma	PMID:17551924|PMID:18042262|PMID:18413255|PMID:19206169|PMID:19416762|PMID:22142829|PMID:24033266|PMID:27521173|PMID:27993330|PMID:28492532|PMID:29907801|PMID:34755412|PMID:37392767
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3275	thymoma		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3304	germinoma		ISO	RGD:735645	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.V600E (human)	PMID:19289622|REF_RGD_ID:2315865
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3490	Noonan syndrome		ISO	RGD:735645	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome	PMID:11313766|PMID:12068308|PMID:12198537|PMID:12460918|PMID:12460919|PMID:12692057|PMID:12960123|PMID:15035987|PMID:16007634|PMID:16439621|PMID:16474404|PMID:16825433|PMID:16953233|PMID:17366577|PMID:17437909|PMID:17551924|PMID:17603482|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18456719|PMID:18854871|PMID:18953432|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19416762|PMID:20224900|PMID:20395089|PMID:20523244|PMID:21483012|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22495831|PMID:22649091|PMID:22698809|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22907230|PMID:23026937|PMID:23093928|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23680146|PMID:23715574|PMID:23833300|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24920063|PMID:25035421|PMID:25155755|PMID:25157968|PMID:25348715|PMID:25463315|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26361991|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26732095|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27329734|PMID:28492532|PMID:28512244|PMID:28524057|PMID:28687512|PMID:28911804|PMID:28947956|PMID:29522538|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30732632|PMID:30986545|PMID:31560489|PMID:3265306|PMID:33040082
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3490	Noonan syndrome		ISO	RGD:735645	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome | ClinVar Annotator: match by term: Turner phenotype with normal karyotype	PMID:11313766|PMID:12068308|PMID:12198537|PMID:12460918|PMID:12460919|PMID:12692057|PMID:12960123|PMID:15035987|PMID:16007634|PMID:16439621|PMID:16474404|PMID:16825433|PMID:16953233|PMID:17366577|PMID:17437909|PMID:17551924|PMID:17603482|PMID:17603483|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18186519|PMID:18413255|PMID:18456719|PMID:18794803|PMID:18854871|PMID:18953432|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19416762|PMID:19537845|PMID:19953625|PMID:20186801|PMID:20224900|PMID:20350999|PMID:20395089|PMID:20523244|PMID:20859831|PMID:21062266|PMID:21129611|PMID:21204800|PMID:21483012|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22310681|PMID:22495831|PMID:22649091|PMID:22698809|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22907230|PMID:23026937|PMID:23093928|PMID:23273605|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23680146|PMID:23715574|PMID:23756559|PMID:23833300|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25155755|PMID:25157968|PMID:25337068|PMID:25348715|PMID:25463315|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26361991|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26732095|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27329734|PMID:27478040|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28524057|PMID:28650561|PMID:28687512|PMID:28783719|PMID:28832562|PMID:28911804|PMID:28947956|PMID:28991257|PMID:29453417|PMID:29522538|PMID:29540830|PMID:29907801|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30732632|PMID:30986545|PMID:31560489|PMID:31785789|PMID:32005694|PMID:32368696|PMID:3265306|PMID:32978145|PMID:33040082|PMID:33128510|PMID:33522658|PMID:33644862
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3490	Noonan syndrome		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome	PMID:11313766|PMID:15035987|PMID:16007634|PMID:16439621|PMID:16474404|PMID:16804887|PMID:16825433|PMID:16953233|PMID:17366577|PMID:17437909|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18953432|PMID:19206169|PMID:19376813|PMID:19416762|PMID:19953625|PMID:20224900|PMID:20523244|PMID:20774|PMID:20859831|PMID:21063443|PMID:22190897|PMID:22495831|PMID:22698809|PMID:22907230|PMID:23026937|PMID:23093928|PMID:23644139|PMID:23875798|PMID:23950000|PMID:24033266|PMID:24088041|PMID:24446311|PMID:24451042|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24920063|PMID:25348715|PMID:25463315|PMID:25741868|PMID:25754625|PMID:26361991|PMID:26619011|PMID:26633545|PMID:26732095|PMID:27276561|PMID:27329734|PMID:27391121|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28524057|PMID:28650561|PMID:28832562|PMID:28911804|PMID:28947956|PMID:28991257|PMID:29493581|PMID:29522538|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30732632|PMID:31292302|PMID:31560489|PMID:31785789|PMID:32005694|PMID:32368696|PMID:33040082|PMID:33128510|PMID:33300679|PMID:33644862|PMID:34573299|PMID:34643321|PMID:37645600|PMID:5586607
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:735645	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach	PMID:12068308|PMID:12198537|PMID:12960123|PMID:14679157|PMID:15035987|PMID:16187918|PMID:19206169|PMID:21639808|PMID:22048237|PMID:22495831|PMID:22663011|PMID:22972589|PMID:24033266|PMID:24451042|PMID:25157968|PMID:26619011|PMID:28492532|PMID:28832562
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3840	craniopharyngioma		ISO	RGD:735645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413733
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3905	lung carcinoma		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung carcinoma	PMID:11313766|PMID:15035987|PMID:16007634|PMID:16804887|PMID:17437909|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:19206169|PMID:19416762|PMID:20224900|PMID:20859831|PMID:21063443|PMID:22190897|PMID:22495831|PMID:22698809|PMID:22907230|PMID:23644139|PMID:23875798|PMID:23950000|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25754625|PMID:26361991|PMID:27329734|PMID:27391121|PMID:28492532|PMID:28991257|PMID:29493581|PMID:29522538|PMID:30290804|PMID:30414707|PMID:30581057|PMID:31560489|PMID:32368696|PMID:33040082|PMID:33644862
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735645	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:12068308|PMID:12460918|PMID:12460919|PMID:12960123|PMID:14612909|PMID:15035987|PMID:16439621|PMID:16474404|PMID:17603483|PMID:18042262|PMID:18186519|PMID:18794803|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19537845|PMID:20350999|PMID:21062266|PMID:21129611|PMID:21483012|PMID:21784453|PMID:22310681|PMID:22649091|PMID:22773810|PMID:23273605|PMID:23833300|PMID:24033266|PMID:24303953|PMID:24446311|PMID:24920063|PMID:25157968|PMID:25463315|PMID:25741868|PMID:26619011|PMID:27236105|PMID:27276561|PMID:28492532|PMID:29907801|PMID:31336229
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Non-small cell lung carcinoma	PMID:12068308|PMID:14681681|PMID:15016963|PMID:15046639|PMID:15753399|PMID:19010912|PMID:20179705|PMID:22142829|PMID:22510884|PMID:23442159|PMID:23833300|PMID:24033266|PMID:25109408|PMID:25741868|PMID:26121087|PMID:26343582|PMID:26810070|PMID:27993330|PMID:28098136|PMID:28581676|PMID:28947956|PMID:29533785|PMID:29933636|PMID:30115695|PMID:31617914|PMID:32289278|PMID:33040082|PMID:33056981|PMID:33585982|PMID:34331515|PMID:35101336|PMID:36973454|PMID:40664146
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:735645	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:16825433|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22876591|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24451042|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28832562|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:735645	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:16825433|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24451042|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28832562|PMID:28854169|PMID:28891408|PMID:29453417|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:735645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADENOCARCINOMA OF LUNG, SOMATIC | ClinVar Annotator: match by term: Adenocarcinoma of lung	PMID:12068308|PMID:12460919|PMID:14688025|PMID:17096326|PMID:17119447|PMID:17311103|PMID:18368129|PMID:18697864|PMID:18794803|PMID:19383316|PMID:19913317|PMID:22142829|PMID:22798288|PMID:23352452|PMID:23583981|PMID:23609006|PMID:24033266|PMID:24238153|PMID:24705251|PMID:25785246|PMID:26121087|PMID:26343582|PMID:27993330|PMID:28492532|PMID:28783719|PMID:28912153|PMID:28947956|PMID:28966033|PMID:29533785|PMID:29540830|PMID:29595366|PMID:30006355|PMID:30115695|PMID:31929109|PMID:32059434|PMID:32289278|PMID:33056981|PMID:34331515|PMID:35101336|PMID:35977349|PMID:39434542
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:735645	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:23585556
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:619908	D	RGD:9068941	20260521	RGD		DNA:missense mutation:cds;p.V600E(rat)	PMID:31953036|REF_RGD_ID:32716372
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:735645	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:27222248|PMID:28030816
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:735646	D	RGD:9068941	20260521	MouseDO		OMIM:188550	
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:3969	papillary thyroid carcinoma	onset	ISO	RGD:735645	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:p.V600E(human)	PMID:22702340|REF_RGD_ID:7241798
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:397	restrictive cardiomyopathy		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Restrictive cardiomyopathy	PMID:17366577|PMID:22495831|PMID:24033266|PMID:24719372|PMID:26795593|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:4001	ovarian carcinoma		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian carcinoma	PMID:19010816|PMID:22930283|PMID:26257827|PMID:27141073|PMID:27993330|PMID:31158244|PMID:32556513|PMID:38768941
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:4465	papillary renal cell carcinoma		ISO	RGD:735645	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1	PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22876591|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:480	movement disease		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:16439621|PMID:16474404|PMID:16825433|PMID:18039235|PMID:18413255|PMID:19376813|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532|PMID:33040082
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:4845	pilomyxoid astrocytoma		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pilomyxoid astrocytoma	PMID:22159586|PMID:23817572|PMID:27993330|PMID:32289278|PMID:34185076
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:4851	pilocytic astrocytoma		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pilocytic astrocytoma	PMID:16501605|PMID:19363522|PMID:20156809|PMID:21190184|PMID:21274720|PMID:23583981|PMID:27993330|PMID:28912153|PMID:29880043|PMID:30575814|PMID:32289278
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:4852	pleomorphic xanthoastrocytoma	onset	ISO	RGD:735645	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:p.V600E(human)	PMID:25346165|REF_RGD_ID:11567238
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:4928	intrahepatic cholangiocarcinoma	severity	ISO	RGD:619908	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.V600E (human)	PMID:24139215|REF_RGD_ID:14398746
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:4928	intrahepatic cholangiocarcinoma	severity	ISO	RGD:735645	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.V600E (human)	PMID:24139215|REF_RGD_ID:14398746
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:4928	intrahepatic cholangiocarcinoma	severity	ISO	RGD:735646	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.V600E (human)	PMID:24139215|REF_RGD_ID:14398746
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:619908	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.V600E (human)	PMID:12692057|REF_RGD_ID:11073239
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735645	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.V600E (human)	PMID:12692057|REF_RGD_ID:11073239
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735646	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.V600E (human)	PMID:12692057|REF_RGD_ID:11073239
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:735645	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:5078	ganglioglioma		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ganglioglioma	PMID:12068308|PMID:19010912|PMID:20156809|PMID:20179705|PMID:22142829|PMID:22510884|PMID:23833300|PMID:24033266|PMID:25109408|PMID:26121087|PMID:26343582|PMID:27993330|PMID:28098136|PMID:28581676|PMID:28947956|PMID:29533785|PMID:29880043|PMID:29933636|PMID:30115695|PMID:32289278|PMID:33056981|PMID:34331515|PMID:35101336|PMID:36973454
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:535	sleep disorder		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:17551924|PMID:17555829|PMID:19206169|PMID:25741868|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:5381	bile duct adenoma		ISO	RGD:619908	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.V600E (human)	PMID:25704541|REF_RGD_ID:11521169
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:5381	bile duct adenoma		ISO	RGD:735645	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.V600E (human)	PMID:25704541|REF_RGD_ID:11521169
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:5381	bile duct adenoma		ISO	RGD:735646	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.V600E (human)	PMID:25704541|REF_RGD_ID:11521169
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:540	strabismus		ISO	RGD:735645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:15035987|PMID:16804887|PMID:18039235|PMID:18413255|PMID:19206169|PMID:20859831|PMID:21063443|PMID:22495831|PMID:23875798|PMID:25741868|PMID:27391121|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:543	dystonia		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:17551924|PMID:17555829|PMID:19206169|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma	
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:5742	pancreatic acinar cell adenocarcinoma		ISO	RGD:735645	D	RGD:9068941	20200609	RGD		DNA:missense mutation, gene fusions:multiple (human)	PMID:25266736|REF_RGD_ID:13462041
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:630	genetic disease		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15035987|PMID:16439621|PMID:16474404|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17366577|PMID:17551924|PMID:17555829|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:19206169|PMID:19376813|PMID:20859831|PMID:21063443|PMID:22495831|PMID:23875798|PMID:24033266|PMID:24283439|PMID:24719372|PMID:24775816|PMID:25463315|PMID:25741868|PMID:26795593|PMID:27391121|PMID:27478040|PMID:28492532|PMID:31474318|PMID:33040082|PMID:34573299|PMID:35524774|PMID:4386970|PMID:5771505
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:16439621|PMID:17496923|PMID:17551924|PMID:17704260|PMID:18042262|PMID:18451217|PMID:23093928|PMID:24033266|PMID:24803665|PMID:25741868|PMID:28492532|PMID:29084544|PMID:31263281
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:674	cleft palate		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:17551924|PMID:17555829|PMID:19206169|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:6846	familial melanoma		ISO	RGD:735645	D	RGD:7240710	20240221	OMIM			
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:6846	familial melanoma		ISO	RGD:735645	D	RGD:8554872	20240220	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1	PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:2500657|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26472072|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:30986545
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:6846	familial melanoma		ISO	RGD:735645	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10	PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:30986545|PMID:34411415
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:6846	familial melanoma		ISO	RGD:735645	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1	PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28783719|PMID:29540830|PMID:30986545|PMID:34411415
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:6846	familial melanoma		ISO	RGD:735645	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20186801|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28783719|PMID:29540830|PMID:30986545|PMID:34411415
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:6846	familial melanoma		ISO	RGD:735645	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10	PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20186801|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28783719|PMID:29540830|PMID:30986545|PMID:32165824|PMID:34411415
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:6846	familial melanoma		ISO	RGD:735645	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20186801|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28783719|PMID:29493581|PMID:29540830|PMID:30986545|PMID:34411415
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:6846	familial melanoma		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1	PMID:16953233|PMID:18039235|PMID:18413255|PMID:19206169|PMID:20395089|PMID:21871821|PMID:22495831|PMID:23026937|PMID:24033266|PMID:24446311|PMID:24451042|PMID:24920063|PMID:25741868|PMID:26619011|PMID:27276561|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28650561|PMID:28832562|PMID:28947956
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:6846	familial melanoma		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1	PMID:16953233|PMID:19206169|PMID:22495831|PMID:23026937|PMID:24033266|PMID:24446311|PMID:24451042|PMID:24920063|PMID:25741868|PMID:26619011|PMID:27276561|PMID:28492532|PMID:28650561|PMID:28832562|PMID:28947956
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:769	neuroblastoma		ISO	RGD:735645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neuroblastoma	PMID:12068308|PMID:19010912|PMID:20179705|PMID:22142829|PMID:22510884|PMID:23833300|PMID:24033266|PMID:25109408|PMID:26121087|PMID:26343582|PMID:27993330|PMID:28098136|PMID:28581676|PMID:28947956|PMID:29533785|PMID:29933636|PMID:30115695|PMID:33056981|PMID:34331515|PMID:35101336|PMID:36973454
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:17551924|PMID:17555829|PMID:19206169|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:8541	Sezary's disease		ISO	RGD:735645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26551667
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:870	neuropathy		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:8923	skin melanoma		ISO	RGD:735645	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17366577|PMID:17374713|PMID:17488796|PMID:17551924|PMID:17603483|PMID:17703371|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18456719|PMID:18794803|PMID:18854871|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22301711|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23312806|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23564332|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24508103|PMID:24512911|PMID:24524299|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24719372|PMID:24775816|PMID:24920063|PMID:2493360|PMID:2500657|PMID:25024077|PMID:25035421|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26242988|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26678033|PMID:27146152|PMID:27236105|PMID:27276561|PMID:27322245|PMID:27404270|PMID:27478040|PMID:27480103|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28832562|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:30986545|PMID:31277584|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:8923	skin melanoma		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY	PMID:16953233|PMID:19206169|PMID:22495831|PMID:23026937|PMID:24033266|PMID:24446311|PMID:24451042|PMID:24920063|PMID:25741868|PMID:26619011|PMID:27276561|PMID:28492532|PMID:28650561|PMID:28832562|PMID:28947956
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:735645	D	RGD:9068941	20260305	CTD		CTD Direct Evidence: marker/mechanism	PMID:25701956|PMID:37400750
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:735645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29426936
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9000965	Neoplasm Metastasis	onset	ISO	RGD:735645	D	RGD:9068941	20200609	RGD		associated with Melanoma; DNA:mutations: :	PMID:25623140|REF_RGD_ID:11567259
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9000972	Fever		ISO	RGD:735645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fever	PMID:16523510|PMID:16804887|PMID:16825433|PMID:17551924|PMID:18039235|PMID:18413255|PMID:19206169|PMID:23875798|PMID:24033266|PMID:24283439|PMID:25741868|PMID:31474318|PMID:4386970|PMID:5771505
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9001239	Delayed Puberty		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25741868
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:11313766|PMID:15035987|PMID:16007634|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17366577|PMID:17437909|PMID:17551924|PMID:17555829|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:19206169|PMID:20224900|PMID:20859831|PMID:21063443|PMID:22495831|PMID:22698809|PMID:22907230|PMID:23644139|PMID:23875798|PMID:23950000|PMID:24033266|PMID:24283439|PMID:24719372|PMID:24803665|PMID:25741868|PMID:25754625|PMID:26361991|PMID:26795593|PMID:27329734|PMID:27391121|PMID:28492532|PMID:28991257|PMID:29493581|PMID:29522538|PMID:30414707|PMID:31474318|PMID:32368696|PMID:33040082|PMID:33644862|PMID:4386970|PMID:5771505
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9001581	Constipation		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus flammeus	PMID:19206169|PMID:19416762|PMID:22190897|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30290804|PMID:30581057|PMID:31560489
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:735645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:735645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21813464
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25735316|PMID:29610475
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:16439621|PMID:16474404|PMID:16825433|PMID:18039235|PMID:18413255|PMID:19376813|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532|PMID:33040082
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:735645	D	RGD:9068941	20250116	RGD			PMID:18060073|REF_RGD_ID:2298686
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:735645	D	RGD:9068941	20250116	RGD		DNA:missense mutation:exon:p.V599E (human)	PMID:19955937|REF_RGD_ID:2315855
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:16439621|PMID:16474404|PMID:16825433|PMID:18039235|PMID:18413255|PMID:19376813|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532|PMID:33040082
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9002883	Aortic Aneurysm, Giant Congenital		ISO	RGD:735645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, giant congenital	PMID:16523510|PMID:16804887|PMID:16825433|PMID:17551924|PMID:18039235|PMID:18413255|PMID:19206169|PMID:23875798|PMID:24033266|PMID:24283439|PMID:25741868|PMID:31474318|PMID:4386970|PMID:5771505
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9002969	Nevus		ISO	RGD:735645	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:p.V600E(human)	PMID:25490715|REF_RGD_ID:11567234
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9002969	Nevus	no_association	ISO	RGD:735645	D	RGD:9068941	20200609	RGD		DNA:mutation: :T1796A(human)	PMID:14984580|REF_RGD_ID:11567261
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9003191	Vascular Malformations		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vascular malformation | ClinVar Annotator: match by term: Vascular malformations	PMID:14681681|PMID:15046639|PMID:24033266|PMID:25741868|PMID:33040082
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9003507	Premature Birth		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:16474404|PMID:17366577|PMID:19206169|PMID:20774|PMID:22495831|PMID:24033266|PMID:24451042|PMID:24719372|PMID:25463315|PMID:25741868|PMID:26795593|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28832562|PMID:29453417|PMID:33128510
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9003566	Mesothelioma		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9003806	PHACE Association		ISO	RGD:735645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PHACE ASSOCIATION	PMID:16523510|PMID:16804887|PMID:16825433|PMID:17551924|PMID:18039235|PMID:18413255|PMID:19206169|PMID:23875798|PMID:24033266|PMID:24283439|PMID:25741868|PMID:31474318|PMID:4386970|PMID:5771505
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9003816	Macrocephaly		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:16439621|PMID:16474404|PMID:16825433|PMID:18039235|PMID:18413255|PMID:19376813|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532|PMID:33040082
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9004118	Experimental Melanoma		ISO	RGD:735645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29179997|PMID:29438700
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:16439621|PMID:17496923|PMID:17551924|PMID:17704260|PMID:18042262|PMID:18451217|PMID:23093928|PMID:24033266|PMID:24803665|PMID:25741868|PMID:28492532|PMID:29084544|PMID:31263281
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9004538	Hearing Loss		ISO	RGD:735645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:15035987|PMID:16804887|PMID:18039235|PMID:18413255|PMID:19206169|PMID:20859831|PMID:21063443|PMID:22495831|PMID:23875798|PMID:25741868|PMID:27391121|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:735645	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:16940797|PMID:19878585|PMID:21185263|PMID:26751190|PMID:30621213|PMID:30935902
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9004547	Thyroid Neoplasms	treatment	ISO	RGD:735645	D	RGD:9068941	20200609	RGD			PMID:21355020|REF_RGD_ID:11567260
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9004730	Romano-Ward Syndrome		ISO	RGD:735645	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:25741868|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9005062	Prostate Cancer, Hereditary, 1		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Prostate cancer, hereditary, 1	PMID:17704260|PMID:18039235|PMID:18413255|PMID:19376813|PMID:23907581|PMID:25741868|PMID:28492532|PMID:29493581|PMID:33128510
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9005077	Joint Instability		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:24033266
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:735645	D	RGD:9068941	20240125	CTD		CTD Direct Evidence: marker/mechanism	
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9005446	Mandibular Neoplasms		ISO	RGD:735645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24859340
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:16439621|PMID:16474404|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17366577|PMID:17496923|PMID:17551924|PMID:17555829|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18451217|PMID:19206169|PMID:19376813|PMID:19416762|PMID:20774|PMID:22190897|PMID:22495831|PMID:23093928|PMID:23875798|PMID:24033266|PMID:24283439|PMID:24719372|PMID:24803665|PMID:25463315|PMID:25741868|PMID:26795593|PMID:28492532|PMID:2851224|PMID:28512244|PMID:29084544|PMID:30290804|PMID:30581057|PMID:31263281|PMID:31474318|PMID:31560489|PMID:33040082|PMID:33128510|PMID:4386970|PMID:5771505
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9005616	Micrognathism		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:17366577|PMID:17704260|PMID:18039235|PMID:22495831|PMID:24033266|PMID:24719372|PMID:25741868|PMID:26795593|PMID:28492532|PMID:30094826
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:16439621|PMID:16474404|PMID:16825433|PMID:18039235|PMID:18413255|PMID:19376813|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532|PMID:33040082
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9006618	Liver Metastasis		ISO	RGD:619908	D	RGD:9068941	20200609	RGD		associated with skin melanoma;DNA:missense mutations:cds:	PMID:28787433|REF_RGD_ID:14696791
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9006618	Liver Metastasis		ISO	RGD:735645	D	RGD:9068941	20200609	RGD		associated with skin melanoma;DNA:missense mutations:cds:	PMID:28787433|REF_RGD_ID:14696791
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9006618	Liver Metastasis		ISO	RGD:735646	D	RGD:9068941	20200609	RGD		associated with skin melanoma;DNA:missense mutations:cds:	PMID:28787433|REF_RGD_ID:14696791
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9006618	Liver Metastasis	severity	ISO	RGD:619908	D	RGD:9068941	20200609	RGD		associated with colorectal cancer;DNA:missense mutation:cds:p.V600E (human)	PMID:23010994|REF_RGD_ID:15039394
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9006618	Liver Metastasis	severity	ISO	RGD:619908	D	RGD:9068941	20200609	RGD		associated with colorectal cancer;DNA:missense mutations:cds:pV599E,p.V600E (human)	PMID:22331825|REF_RGD_ID:18337265
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9006618	Liver Metastasis	severity	ISO	RGD:619908	D	RGD:9068941	20200609	RGD		associated with colorectal cancer;DNA:mutation:cds:	PMID:27737491|REF_RGD_ID:18337264
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9006618	Liver Metastasis	severity	ISO	RGD:619908	D	RGD:9068941	20200609	RGD		associated with colorectal cancer;DNA:mutations:multiple	PMID:26775732|REF_RGD_ID:11554843
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9006618	Liver Metastasis	severity	ISO	RGD:735645	D	RGD:9068941	20200609	RGD		associated with colorectal cancer;DNA:missense mutation:cds:p.V600E (human)	PMID:23010994|REF_RGD_ID:15039394
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9006618	Liver Metastasis	severity	ISO	RGD:735645	D	RGD:9068941	20200609	RGD		associated with colorectal cancer;DNA:missense mutations:cds:pV599E,p.V600E (human)	PMID:22331825|REF_RGD_ID:18337265
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9006618	Liver Metastasis	severity	ISO	RGD:735645	D	RGD:9068941	20200609	RGD		associated with colorectal cancer;DNA:mutation:cds:	PMID:27737491|REF_RGD_ID:18337264
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9006618	Liver Metastasis	severity	ISO	RGD:735645	D	RGD:9068941	20200609	RGD		associated with colorectal cancer;DNA:mutations:multiple	PMID:26775732|REF_RGD_ID:11554843
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9006618	Liver Metastasis	severity	ISO	RGD:735646	D	RGD:9068941	20200609	RGD		associated with colorectal cancer;DNA:missense mutation:cds:p.V600E (human)	PMID:23010994|REF_RGD_ID:15039394
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9006618	Liver Metastasis	severity	ISO	RGD:735646	D	RGD:9068941	20200609	RGD		associated with colorectal cancer;DNA:missense mutations:cds:pV599E,p.V600E (human)	PMID:22331825|REF_RGD_ID:18337265
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9006618	Liver Metastasis	severity	ISO	RGD:735646	D	RGD:9068941	20200609	RGD		associated with colorectal cancer;DNA:mutation:cds:	PMID:27737491|REF_RGD_ID:18337264
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9006618	Liver Metastasis	severity	ISO	RGD:735646	D	RGD:9068941	20200609	RGD		associated with colorectal cancer;DNA:mutations:multiple	PMID:26775732|REF_RGD_ID:11554843
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:735645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17514646
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9007284	Precocious Puberty		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:17551924|PMID:17555829|PMID:19206169|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9007661	Dwarfism		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:11313766|PMID:16007634|PMID:16439621|PMID:17437909|PMID:17496923|PMID:17551924|PMID:17555829|PMID:17704260|PMID:18042262|PMID:18451217|PMID:19206169|PMID:20224900|PMID:22698809|PMID:22907230|PMID:23093928|PMID:23644139|PMID:23950000|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25754625|PMID:26361991|PMID:27329734|PMID:28492532|PMID:28991257|PMID:29084544|PMID:29493581|PMID:29522538|PMID:30414707|PMID:31263281|PMID:32368696|PMID:33040082|PMID:33644862
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9007702	Carcinogenesis		ISO	RGD:735645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24717435
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9007736	Vertigo		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9008023	Memory Disorders		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:16439621|PMID:16474404|PMID:16825433|PMID:18039235|PMID:18413255|PMID:19376813|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532|PMID:33040082
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:11313766|PMID:16007634|PMID:16474404|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17366577|PMID:17437909|PMID:17551924|PMID:17555829|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:19206169|PMID:19416762|PMID:20224900|PMID:22190897|PMID:22495831|PMID:22698809|PMID:22907230|PMID:23644139|PMID:23875798|PMID:23950000|PMID:24033266|PMID:24283439|PMID:24719372|PMID:24803665|PMID:25741868|PMID:25754625|PMID:26361991|PMID:26795593|PMID:27329734|PMID:28492532|PMID:28991257|PMID:29493581|PMID:29522538|PMID:30290804|PMID:30414707|PMID:30581057|PMID:31474318|PMID:31560489|PMID:32368696|PMID:33040082|PMID:33644862|PMID:4386970|PMID:5771505
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:735645	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:18718023|PMID:25280562|PMID:25701956|PMID:27222248
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:735645	D	RGD:9068941	20250116	RGD		DNA:mutation:cds:p.V600E(human)	PMID:18098337|REF_RGD_ID:2298531
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9008617	Lethargy		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:17551924|PMID:17555829|PMID:19206169|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9008675	Dyskinesias		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:17551924|PMID:17555829|PMID:19206169|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:735645	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast neoplasm	PMID:12068308|PMID:15035987|PMID:17314276|PMID:18039235|PMID:18413255|PMID:19376813|PMID:19593635|PMID:2102266|PMID:22538770|PMID:23680146|PMID:23907581|PMID:24033266|PMID:25155755|PMID:25157968|PMID:25741868|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9009050	Hypocalcemia		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	PMID:17704260|PMID:18039235|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30094826
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:735645	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma	PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:735645	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31779674|PMID:31891627|PMID:34476331
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:735645	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21639808|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25079330|PMID:25157968|PMID:25370471|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:28854169|PMID:29925953|PMID:31891627|PMID:34476331
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:735645	D	RGD:7240710	20210303	OMIM			
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:735645	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12	PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:735645	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18039235|PMID:18398503|PMID:18413255|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27478040|PMID:27480103|PMID:28404629|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:735645	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17366577|PMID:17374713|PMID:17488796|PMID:17551924|PMID:17703371|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18398503|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22301711|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23312806|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23564332|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24409384|PMID:24508103|PMID:24512911|PMID:24524299|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24719372|PMID:24775816|PMID:2500657|PMID:25024077|PMID:25035421|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26242988|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26678033|PMID:27146152|PMID:27322245|PMID:27404270|PMID:27478040|PMID:27480103|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28854169|PMID:28891408|PMID:29925953|PMID:30986545|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:735645	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17366577|PMID:17374713|PMID:17488796|PMID:17551924|PMID:17703371|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18398503|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22301711|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23312806|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23564332|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24409384|PMID:24508103|PMID:24512911|PMID:24524299|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24719372|PMID:24775816|PMID:2500657|PMID:25024077|PMID:25035421|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26242988|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26678033|PMID:27146152|PMID:27322245|PMID:27404270|PMID:27478040|PMID:27480103|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28854169|PMID:28891408|PMID:29925953|PMID:30986545|PMID:31779674|PMID:31891627|PMID:34476331
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:735645	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:2500657|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26472072|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:30986545
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:735645	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:30986545|PMID:34411415
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:735645	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20186801|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28783719|PMID:29540830|PMID:30986545|PMID:32165824|PMID:34411415
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:735645	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20186801|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28783719|PMID:29540830|PMID:30986545|PMID:33300679|PMID:34411415|PMID:34643321
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:735645	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20186801|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28783719|PMID:29493581|PMID:29540830|PMID:30986545|PMID:33300679|PMID:34411415|PMID:34643321
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12198537|PMID:12960123|PMID:16953233|PMID:18039235|PMID:18413255|PMID:19206169|PMID:20395089|PMID:21871821|PMID:22495831|PMID:23026937|PMID:24033266|PMID:24446311|PMID:24451042|PMID:24920063|PMID:25741868|PMID:26619011|PMID:27276561|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28650561|PMID:28832562|PMID:28947956|PMID:33300679|PMID:34643321
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:735645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:16953233|PMID:18039235|PMID:18413255|PMID:19206169|PMID:20395089|PMID:21871821|PMID:22495831|PMID:23026937|PMID:24033266|PMID:24446311|PMID:24451042|PMID:24920063|PMID:25741868|PMID:26619011|PMID:27276561|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28650561|PMID:28832562|PMID:28947956|PMID:33300679|PMID:34643321
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:16953233|PMID:19206169|PMID:22495831|PMID:23026937|PMID:24033266|PMID:24446311|PMID:24451042|PMID:24920063|PMID:25741868|PMID:26619011|PMID:27276561|PMID:28492532|PMID:28650561|PMID:28832562|PMID:28947956|PMID:33300679|PMID:34643321
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:735645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nasopharyngeal carcinoma	PMID:12068308|PMID:19010912|PMID:20179705|PMID:22142829|PMID:22510884|PMID:23833300|PMID:24033266|PMID:25109408|PMID:26121087|PMID:26343582|PMID:27993330|PMID:28098136|PMID:28581676|PMID:28947956|PMID:29533785|PMID:29933636|PMID:30115695|PMID:33056981|PMID:34331515|PMID:35101336|PMID:36973454
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9538	multiple myeloma		ISO	RGD:12834436	D	RGD:9068941	20260521	ClinVar		ClinVar Annotator: match by term: Myelomatosis	PMID:12068308|PMID:19537845|PMID:20350999|PMID:21129611|PMID:22180495|PMID:22310681|PMID:25157968|PMID:26619011
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus | ClinVar Annotator: match by term: Nystagmus	PMID:15035987|PMID:16372351|PMID:16804887|PMID:17551924|PMID:17555829|PMID:18039235|PMID:18413255|PMID:19206169|PMID:20859831|PMID:21063443|PMID:22495831|PMID:23875798|PMID:25741868|PMID:27391121|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:735645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:15035987|PMID:16804887|PMID:17551924|PMID:17555829|PMID:18039235|PMID:18413255|PMID:19206169|PMID:20859831|PMID:21063443|PMID:22495831|PMID:23875798|PMID:25741868|PMID:27391121|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:25741868
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9834	hyperopia		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:16474404|PMID:25463315|PMID:25741868|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9840	esotropia		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:17551924|PMID:17555829|PMID:19206169|PMID:28492532
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:988	mitral valve prolapse		ISO	RGD:735645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	PMID:19206169|PMID:19416762|PMID:22190897|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30290804|PMID:30581057|PMID:31560489
8800749	Braf	B-Raf proto-oncogene, serine/threonine kinase	gene	DOID:9970	obesity		ISO	RGD:735645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:16439621|PMID:16474404|PMID:16825433|PMID:18039235|PMID:18413255|PMID:19376813|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532|PMID:33040082
8800805	Oasl	2'-5'-oligoadenylate synthetase like	gene	DOID:1909	melanoma		ISO	RGD:1318443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8800805	Oasl	2'-5'-oligoadenylate synthetase like	gene	DOID:4362	cervical cancer		ISO	RGD:1318443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8800805	Oasl	2'-5'-oligoadenylate synthetase like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8800805	Oasl	2'-5'-oligoadenylate synthetase like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8800805	Oasl	2'-5'-oligoadenylate synthetase like	gene	DOID:9001488	Human Influenza		ISO	RGD:1318443	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
8800829	Hemgn	hemogen	gene	DOID:12712	nephronophthisis		ISO	RGD:1351335	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:12872123|PMID:28492532
8800829	Hemgn	hemogen	gene	DOID:1324	lung cancer		ISO	RGD:1351335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8800829	Hemgn	hemogen	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8800844	Gps2	G protein pathway suppressor 2	gene	DOID:0080706	medulloblastoma non-WNT/non-SHH		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH	PMID:27993330
8800844	Gps2	G protein pathway suppressor 2	gene	DOID:0080707	medulloblastoma non-WNT/non-SHH group 3		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 3	PMID:22820256|PMID:25030029|PMID:27993330
8800844	Gps2	G protein pathway suppressor 2	gene	DOID:0080708	medulloblastoma non-WNT/non-SHH group 4		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 4	PMID:22820256|PMID:25030029|PMID:27993330
8800844	Gps2	G protein pathway suppressor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8800844	Gps2	G protein pathway suppressor 2	gene	DOID:1115	sarcoma		ISO	RGD:1317604	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8800844	Gps2	G protein pathway suppressor 2	gene	DOID:1909	melanoma		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8800844	Gps2	G protein pathway suppressor 2	gene	DOID:3275	thymoma		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8800844	Gps2	G protein pathway suppressor 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8800844	Gps2	G protein pathway suppressor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8800844	Gps2	G protein pathway suppressor 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8800844	Gps2	G protein pathway suppressor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317604	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8800844	Gps2	G protein pathway suppressor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800844	Gps2	G protein pathway suppressor 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8800844	Gps2	G protein pathway suppressor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800844	Gps2	G protein pathway suppressor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800868	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:10283	prostate cancer		ISO	RGD:1349074	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
8800868	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8800868	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:1349074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8800868	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1349074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8800868	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1349074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8800868	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1349074	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8800868	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8800868	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:630	genetic disease		ISO	RGD:1349074	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19204719|PMID:9724608
8800868	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8800868	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800868	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800868	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8800933	Ckap2l	cytoskeleton associated protein 2 like	gene	DOID:0112194	Filippi syndrome		ISO	RGD:1602064	D	RGD:7240710	20180130	OMIM			
8800933	Ckap2l	cytoskeleton associated protein 2 like	gene	DOID:0112194	Filippi syndrome		ISO	RGD:1602064	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CKAP2L-related condition | ClinVar Annotator: match by term: FILIPPI SYNDROME | ClinVar Annotator: match by term: Filippi syndrome	PMID:25439729|PMID:25741868|PMID:28492532
8800933	Ckap2l	cytoskeleton associated protein 2 like	gene	DOID:10534	stomach cancer		ISO	RGD:1602064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8800933	Ckap2l	cytoskeleton associated protein 2 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8800933	Ckap2l	cytoskeleton associated protein 2 like	gene	DOID:1909	melanoma		ISO	RGD:1602064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8800933	Ckap2l	cytoskeleton associated protein 2 like	gene	DOID:1924	hypogonadism		ISO	RGD:1602064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868|PMID:38738944
8800933	Ckap2l	cytoskeleton associated protein 2 like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8800933	Ckap2l	cytoskeleton associated protein 2 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8800933	Ckap2l	cytoskeleton associated protein 2 like	gene	DOID:630	genetic disease		ISO	RGD:1602064	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8800933	Ckap2l	cytoskeleton associated protein 2 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602064	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8800944	Ntsr1	neurotensin receptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8800944	Ntsr1	neurotensin receptor 1	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1314483	D	RGD:9068941	20250111	RGD		DNA:SNPs,haplotype::rs6011914,rs2427422(human)	PMID:23743782|REF_RGD_ID:596948429
8800944	Ntsr1	neurotensin receptor 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24781735
8800944	Ntsr1	neurotensin receptor 1	gene	DOID:0080600	COVID-19		ISO	RGD:1314483	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8800944	Ntsr1	neurotensin receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1314483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8800944	Ntsr1	neurotensin receptor 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:1314483	D	RGD:9068941	20200609	RGD			PMID:7700529|REF_RGD_ID:9743906
8800944	Ntsr1	neurotensin receptor 1	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1314483	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
8800944	Ntsr1	neurotensin receptor 1	gene	DOID:2559	opiate dependence	susceptibility	ISO	RGD:1314483	D	RGD:9068941	20250116	RGD		DNA:SNP:intron:rs3915568(human)	PMID:26384852|REF_RGD_ID:11522680
8800944	Ntsr1	neurotensin receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314483	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8800944	Ntsr1	neurotensin receptor 1	gene	DOID:5419	schizophrenia		ISO	RGD:1314483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20659557
8800944	Ntsr1	neurotensin receptor 1	gene	DOID:5419	schizophrenia		ISO	RGD:1314483	D	RGD:9068941	20200806	RGD		DNA:repeat:enhancer:	
8800944	Ntsr1	neurotensin receptor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8800944	Ntsr1	neurotensin receptor 1	gene	DOID:9000641	Pain		ISO	RGD:1314483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20727387
8800944	Ntsr1	neurotensin receptor 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1306076	D	RGD:9068941	20200609	RGD			PMID:22396077|REF_RGD_ID:9743902
8800952	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:0112119	combined oxidative phosphorylation deficiency 41		ISO	RGD:1317305	D	RGD:7240710	20200520	OMIM			
8800952	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:0112119	combined oxidative phosphorylation deficiency 41		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 41 | ClinVar Annotator: match by term: GATB-related condition	PMID:25741868|PMID:30283131|PMID:38703036
8800952	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:10534	stomach cancer		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8800952	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8800952	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:1115	sarcoma		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8800952	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:1324	lung cancer		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8800952	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:3070	high grade glioma		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8800952	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:3275	thymoma		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8800952	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8800952	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800952	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8800952	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:9000777	Mitochondrial Cardiomyopathy		ISO	RGD:1317305	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial	PMID:30283131
8800952	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8800952	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800952	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8800969	Urm1	ubiquitin related modifier 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8800969	Urm1	ubiquitin related modifier 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8800969	Urm1	ubiquitin related modifier 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8800969	Urm1	ubiquitin related modifier 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315307	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8800969	Urm1	ubiquitin related modifier 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8800969	Urm1	ubiquitin related modifier 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1315307	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8800969	Urm1	ubiquitin related modifier 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1315307	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8800969	Urm1	ubiquitin related modifier 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8800992	Lbx1	ladybird homeobox 1	gene	DOID:9002001	Congenital Central Hypoventilation Syndrome 3		ISO	RGD:1606568	D	RGD:7240710	20211006	OMIM			
8800992	Lbx1	ladybird homeobox 1	gene	DOID:9002001	Congenital Central Hypoventilation Syndrome 3		ISO	RGD:1606568	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 3	PMID:25741868
8800992	Lbx1	ladybird homeobox 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1606568	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19651985
8801000	Gbx1	gastrulation brain homeobox 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1352199	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532
8801006	Mtmr1	myotubularin related protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8801006	Mtmr1	myotubularin related protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801006	Mtmr1	myotubularin related protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1315259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8801006	Mtmr1	myotubularin related protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1315259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8801006	Mtmr1	myotubularin related protein 1	gene	DOID:1909	melanoma		ISO	RGD:1315259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8801006	Mtmr1	myotubularin related protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8801006	Mtmr1	myotubularin related protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8801006	Mtmr1	myotubularin related protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315259	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8801006	Mtmr1	myotubularin related protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801006	Mtmr1	myotubularin related protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8801006	Mtmr1	myotubularin related protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8801006	Mtmr1	myotubularin related protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8801040	Fanci	FA complementation group I	gene	DOID:0050671	female breast cancer	susceptibility	ISO	RGD:1605380	D	RGD:9068941	20220609	RGD		DNA:missense mutation:cds: (human)	PMID:30303537|REF_RGD_ID:152995259
8801040	Fanci	FA complementation group I	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:1605380	D	RGD:9068941	20200609	RGD			PMID:17409780|REF_RGD_ID:11049143
8801040	Fanci	FA complementation group I	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605380	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801040	Fanci	FA complementation group I	gene	DOID:0111091	Fanconi anemia complementation group I		ISO	RGD:1605380	D	RGD:7240710	20180130	OMIM			
8801040	Fanci	FA complementation group I	gene	DOID:0111091	Fanconi anemia complementation group I		ISO	RGD:1605380	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FANCI-related disorder | ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP I | ClinVar Annotator: match by term: Fanconi anemia complementation group I	PMID:16199547|PMID:17412408|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:18414213|PMID:18931676|PMID:19561358|PMID:20971953|PMID:21324748|PMID:22720145|PMID:23093618|PMID:23613520|PMID:24623813|PMID:24989076|PMID:25741868|PMID:26296701|PMID:26590883|PMID:28492532|PMID:28678401|PMID:28878254|PMID:29439820|PMID:30792206|PMID:32054657|PMID:32546565|PMID:32868804|PMID:36513378|PMID:36915884|PMID:38483614|PMID:9536098
8801040	Fanci	FA complementation group I	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:1605380	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group A	PMID:25741868|PMID:28492532
8801040	Fanci	FA complementation group I	gene	DOID:0111991	immunodeficiency 62		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 62	PMID:25741868
8801040	Fanci	FA complementation group I	gene	DOID:10534	stomach cancer		ISO	RGD:1605380	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:17452773|PMID:17460694|PMID:25741868|PMID:28492532|PMID:28875981
8801040	Fanci	FA complementation group I	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8801040	Fanci	FA complementation group I	gene	DOID:1115	sarcoma		ISO	RGD:1605380	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8801040	Fanci	FA complementation group I	gene	DOID:13636	Fanconi anemia		ISO	RGD:1605380	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16199547|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:19737859|PMID:19763152|PMID:20307669|PMID:20691285|PMID:20971953|PMID:21038416|PMID:21228398|PMID:21324748|PMID:22406018|PMID:22720145|PMID:23093618|PMID:23613520|PMID:23783014|PMID:24033266|PMID:24989076|PMID:25462018|PMID:25741868|PMID:25877891|PMID:25927356|PMID:26104464|PMID:26296701|PMID:26467025|PMID:26590883|PMID:28492532|PMID:28678401|PMID:28878254|PMID:29439820|PMID:29891941|PMID:30076350|PMID:30303537|PMID:30333958|PMID:30773290|PMID:31470354|PMID:32054657|PMID:32235514|PMID:32546565|PMID:33558524|PMID:34585473|PMID:34861889|PMID:9536098
8801040	Fanci	FA complementation group I	gene	DOID:13636	Fanconi anemia		ISO	RGD:1605380	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16199547|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:19737859|PMID:19763152|PMID:20307669|PMID:20691285|PMID:20971953|PMID:21038416|PMID:21228398|PMID:21324748|PMID:22406018|PMID:22720145|PMID:23093618|PMID:23613520|PMID:23783014|PMID:24033266|PMID:24989076|PMID:25462018|PMID:25741868|PMID:25877891|PMID:25927356|PMID:26104464|PMID:26296701|PMID:26467025|PMID:26590883|PMID:28492532|PMID:28678401|PMID:28878254|PMID:29439820|PMID:29625052|PMID:29891941|PMID:30076350|PMID:30303537|PMID:30333958|PMID:30773290|PMID:31470354|PMID:32054657|PMID:32235514|PMID:32546565|PMID:33558524|PMID:34585473|PMID:34601666|PMID:34861889|PMID:36356413|PMID:36513378|PMID:9536098
8801040	Fanci	FA complementation group I	gene	DOID:13636	Fanconi anemia		ISO	RGD:1605380	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16199547|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18546365|PMID:18991199|PMID:19010300|PMID:19737859|PMID:19763152|PMID:20307669|PMID:20691285|PMID:20971953|PMID:21038416|PMID:21228398|PMID:21324748|PMID:22406018|PMID:22720145|PMID:23093618|PMID:23430898|PMID:23613520|PMID:23783014|PMID:24033266|PMID:24989076|PMID:25462018|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25927356|PMID:26104464|PMID:26296701|PMID:26467025|PMID:26590883|PMID:28492532|PMID:28678401|PMID:28875981|PMID:28878254|PMID:29439820|PMID:29625052|PMID:29891941|PMID:30076350|PMID:30303537|PMID:30333958|PMID:30773290|PMID:30792206|PMID:31300551|PMID:31470354|PMID:32054657|PMID:32235514|PMID:32546565|PMID:33558524|PMID:34585473|PMID:34601666|PMID:34861889|PMID:36356413|PMID:36513378|PMID:9536098
8801040	Fanci	FA complementation group I	gene	DOID:13636	Fanconi anemia		ISO	RGD:1605380	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:16199547|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:19737859|PMID:19763152|PMID:20307669|PMID:20971953|PMID:21324748|PMID:22406018|PMID:23613520|PMID:25640679|PMID:25741868|PMID:25877891|PMID:26094658|PMID:26590883|PMID:28492532|PMID:28678401|PMID:28878254|PMID:29625052|PMID:29891941|PMID:30076350|PMID:30303537|PMID:30333958|PMID:30773290|PMID:31822006|PMID:32054657|PMID:32235514|PMID:32546565|PMID:34308104|PMID:34585473|PMID:34601666|PMID:35099770|PMID:36307859|PMID:37216690|PMID:37277882|PMID:9536098
8801040	Fanci	FA complementation group I	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8801040	Fanci	FA complementation group I	gene	DOID:1612	breast cancer		ISO	RGD:1605380	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast Cancer	PMID:25741868|PMID:28492532|PMID:33558524
8801040	Fanci	FA complementation group I	gene	DOID:1826	epilepsy		ISO	RGD:1605380	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:15477547|PMID:16177225|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532
8801040	Fanci	FA complementation group I	gene	DOID:1909	melanoma		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8801040	Fanci	FA complementation group I	gene	DOID:3070	high grade glioma		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8801040	Fanci	FA complementation group I	gene	DOID:3275	thymoma		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8801040	Fanci	FA complementation group I	gene	DOID:4362	cervical cancer		ISO	RGD:1605380	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8801040	Fanci	FA complementation group I	gene	DOID:5041	esophageal cancer		ISO	RGD:1605380	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8801040	Fanci	FA complementation group I	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801040	Fanci	FA complementation group I	gene	DOID:630	genetic disease		ISO	RGD:1605380	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8801040	Fanci	FA complementation group I	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8801040	Fanci	FA complementation group I	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1605380	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: mitochondrial disorder	PMID:15477547|PMID:16177225|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532
8801040	Fanci	FA complementation group I	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8801040	Fanci	FA complementation group I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8801040	Fanci	FA complementation group I	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868
8801040	Fanci	FA complementation group I	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8801040	Fanci	FA complementation group I	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8801040	Fanci	FA complementation group I	gene	DOID:9256	colorectal cancer		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
8801086	Mrpl2	mitochondrial ribosomal protein L2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801086	Mrpl2	mitochondrial ribosomal protein L2	gene	DOID:10534	stomach cancer		ISO	RGD:1316168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8801086	Mrpl2	mitochondrial ribosomal protein L2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8801086	Mrpl2	mitochondrial ribosomal protein L2	gene	DOID:3275	thymoma		ISO	RGD:1316168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8801086	Mrpl2	mitochondrial ribosomal protein L2	gene	DOID:4362	cervical cancer		ISO	RGD:1316168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8801086	Mrpl2	mitochondrial ribosomal protein L2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8801086	Mrpl2	mitochondrial ribosomal protein L2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316168	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8801086	Mrpl2	mitochondrial ribosomal protein L2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801086	Mrpl2	mitochondrial ribosomal protein L2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8801097	Tnfaip6	TNF alpha induced protein 6	gene	DOID:11382	corneal neovascularization	treatment	ISO	RGD:1345645	D	RGD:9068941	20200609	RGD			PMID:20837529|REF_RGD_ID:7777186
8801097	Tnfaip6	TNF alpha induced protein 6	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1345645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404|PMID:17374397
8801097	Tnfaip6	TNF alpha induced protein 6	gene	DOID:3310	atopic dermatitis		ISO	RGD:1345645	D	RGD:9068941	20200609	RGD		mRNA:altered expression:fibroblast	PMID:16650051|REF_RGD_ID:7777183
8801097	Tnfaip6	TNF alpha induced protein 6	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1345645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12374626
8801097	Tnfaip6	TNF alpha induced protein 6	gene	DOID:37	skin disease		ISO	RGD:1345645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8801097	Tnfaip6	TNF alpha induced protein 6	gene	DOID:4251	conjunctival disease		ISO	RGD:1345645	D	RGD:9068941	20200609	RGD			PMID:22297496|REF_RGD_ID:7777184
8801097	Tnfaip6	TNF alpha induced protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801097	Tnfaip6	TNF alpha induced protein 6	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1345645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8801097	Tnfaip6	TNF alpha induced protein 6	gene	DOID:9001488	Human Influenza		ISO	RGD:1345645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
8801097	Tnfaip6	TNF alpha induced protein 6	gene	DOID:9002488	Peritoneal Fibrosis	treatment	ISO	RGD:621359	D	RGD:9068941	20200609	RGD			PMID:22912904|REF_RGD_ID:7777188
8801097	Tnfaip6	TNF alpha induced protein 6	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1345645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:26313688
8801097	Tnfaip6	TNF alpha induced protein 6	gene	DOID:9005372	Inflammation	treatment	ISO	RGD:1345645	D	RGD:9068941	20200609	RGD		associated with Corneal Diseases	PMID:21837654|REF_RGD_ID:7777185
8801097	Tnfaip6	TNF alpha induced protein 6	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1345645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8801097	Tnfaip6	TNF alpha induced protein 6	gene	DOID:9008606	Corneal Opacity	treatment	ISO	RGD:1345645	D	RGD:9068941	20200609	RGD			PMID:20837529|REF_RGD_ID:7777186
8801106	Map3k2	mitogen-activated protein kinase kinase kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8801106	Map3k2	mitogen-activated protein kinase kinase kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801106	Map3k2	mitogen-activated protein kinase kinase kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1354206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8801106	Map3k2	mitogen-activated protein kinase kinase kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1354206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8801106	Map3k2	mitogen-activated protein kinase kinase kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1354206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8801106	Map3k2	mitogen-activated protein kinase kinase kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1354206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8801106	Map3k2	mitogen-activated protein kinase kinase kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1354206	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8801106	Map3k2	mitogen-activated protein kinase kinase kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801106	Map3k2	mitogen-activated protein kinase kinase kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8801106	Map3k2	mitogen-activated protein kinase kinase kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8801106	Map3k2	mitogen-activated protein kinase kinase kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8801106	Map3k2	mitogen-activated protein kinase kinase kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8801106	Map3k2	mitogen-activated protein kinase kinase kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8801141	Sorcs2	sortilin related VPS10 domain containing receptor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8801141	Sorcs2	sortilin related VPS10 domain containing receptor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801141	Sorcs2	sortilin related VPS10 domain containing receptor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8801141	Sorcs2	sortilin related VPS10 domain containing receptor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8801141	Sorcs2	sortilin related VPS10 domain containing receptor 2	gene	DOID:1115	sarcoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8801141	Sorcs2	sortilin related VPS10 domain containing receptor 2	gene	DOID:1324	lung cancer		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8801141	Sorcs2	sortilin related VPS10 domain containing receptor 2	gene	DOID:1909	melanoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8801141	Sorcs2	sortilin related VPS10 domain containing receptor 2	gene	DOID:3275	thymoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8801141	Sorcs2	sortilin related VPS10 domain containing receptor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8801141	Sorcs2	sortilin related VPS10 domain containing receptor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321631	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8801141	Sorcs2	sortilin related VPS10 domain containing receptor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801141	Sorcs2	sortilin related VPS10 domain containing receptor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8801141	Sorcs2	sortilin related VPS10 domain containing receptor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8801141	Sorcs2	sortilin related VPS10 domain containing receptor 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8801141	Sorcs2	sortilin related VPS10 domain containing receptor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8801141	Sorcs2	sortilin related VPS10 domain containing receptor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8801171	Clrn2	clarin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2291757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8801171	Clrn2	clarin 2	gene	DOID:0070671	autosomal recessive nonsyndromic deafness 117		ISO	RGD:2291757	D	RGD:7240710	20210303	OMIM			
8801171	Clrn2	clarin 2	gene	DOID:0070671	autosomal recessive nonsyndromic deafness 117		ISO	RGD:2291757	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CLRN2-related condition | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 117	PMID:25741868
8801171	Clrn2	clarin 2	gene	DOID:9001733	Tinnitus		ISO	RGD:2291757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868
8801171	Clrn2	clarin 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:2291757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:0050581	brachydactyly		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:37091313
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317236	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:0110330	Leber congenital amaurosis 13		ISO	RGD:1317236	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis 13	PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23847139|PMID:24265693|PMID:24474277|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25561519|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26667666|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28512305|PMID:2855908|PMID:28559085|PMID:29178642|PMID:30372751|PMID:30718709|PMID:9536098
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:0110330	Leber congenital amaurosis 13		ISO	RGD:1317236	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis 13	PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:24265693|PMID:24474277|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25561519|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28512305|PMID:2855908|PMID:28559085|PMID:29178642|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31456290|PMID:31630094|PMID:31801355|PMID:31816670|PMID:32014858|PMID:32141364|PMID:32322264|PMID:32790509|PMID:34001834|PMID:35006499|PMID:35119454|PMID:35994252|PMID:36284670|PMID:36690427|PMID:36909829|PMID:9536098
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:0110768	hereditary spastic paraplegia 15		ISO	RGD:1317236	D	RGD:7240710	20180130	OMIM			
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:0110768	hereditary spastic paraplegia 15		ISO	RGD:1317236	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 | ClinVar Annotator: match by term: Kjellin syndrome | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA AND RETINAL DEGENERATION | ClinVar Annotator: match by term: Spastic paraplegia 15, autosomal recessive | ClinVar Annotator: match by term: ZFYVE26-related condition	PMID:16199547|PMID:17576681|PMID:18394578|PMID:19805727|PMID:19917823|PMID:23733235|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25497598|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26492578|PMID:26633545|PMID:26944241|PMID:27544497|PMID:28213671|PMID:28362824|PMID:28492532|PMID:29246610|PMID:29858556|PMID:30555096|PMID:31048186|PMID:31069529|PMID:31108397|PMID:31690835|PMID:33144682|PMID:36315648|PMID:37091313|PMID:6944241|PMID:9536098
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:0111428	essential tremor 1		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:25741868|PMID:37091313
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:10534	stomach cancer		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:26467025|PMID:28492532
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1317236	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:18779497|PMID:19011012|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31456290|PMID:32141364|PMID:32790509|PMID:34001834
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:1115	sarcoma		ISO	RGD:1317236	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:26467025|PMID:28492532
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:1324	lung cancer		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:26467025|PMID:28492532
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:1826	epilepsy		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:18394578|PMID:19805727|PMID:25741868|PMID:28492532
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:1909	melanoma		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317236	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1317236	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:16199547|PMID:17576681|PMID:18394578|PMID:19805727|PMID:19917823|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25741868|PMID:26467025|PMID:26633545|PMID:28492532|PMID:28832565|PMID:31108397|PMID:6944241|PMID:9536098
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1317236	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:16199547|PMID:17576681|PMID:18394578|PMID:19805727|PMID:19917823|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26944241|PMID:28492532|PMID:28832565|PMID:29246610|PMID:29590070|PMID:31108397|PMID:33144682|PMID:36315648|PMID:37091313|PMID:6944241|PMID:9536098
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1317236	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:16199547|PMID:17576681|PMID:18394578|PMID:19805727|PMID:19917823|PMID:24088041|PMID:25133958|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26944241|PMID:28213671|PMID:28362824|PMID:28492532|PMID:28832565|PMID:29246610|PMID:31048186|PMID:31108397|PMID:33144682|PMID:36315648|PMID:37091313|PMID:6944241|PMID:9536098
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:3275	thymoma		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:26467025|PMID:28492532
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:4362	cervical cancer		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:26467025|PMID:28492532
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:5041	esophageal cancer		ISO	RGD:1317236	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:26467025|PMID:28492532
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317236	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:607	paraplegia		ISO	RGD:1317236	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:16199547|PMID:17576681|PMID:18394578|PMID:19084844|PMID:19763152|PMID:19805727|PMID:19917823|PMID:20307669|PMID:21462267|PMID:22406018|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25497598|PMID:25741868|PMID:26467025|PMID:26492578|PMID:26633545|PMID:26944241|PMID:27217339|PMID:28213671|PMID:28362824|PMID:28492532|PMID:29246610|PMID:29254223|PMID:29858556|PMID:29908077|PMID:30555096|PMID:31048186|PMID:31069529|PMID:31108397|PMID:33144682|PMID:36315648|PMID:36964972|PMID:37041082|PMID:37091313|PMID:6944241|PMID:9536098
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:630	genetic disease		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:18394578|PMID:19805727|PMID:24030950|PMID:24833714|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29254223|PMID:29908077|PMID:31069529|PMID:37091313
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:6364	migraine		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:18394578|PMID:19805727|PMID:25741868|PMID:28492532
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:8501	fundus dystrophy		ISO	RGD:1317236	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:9000053	Headache		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:18394578|PMID:19805727|PMID:25741868|PMID:28492532
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:9000641	Pain		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	PMID:18394578|PMID:19805727|PMID:25741868|PMID:28492532
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:9003507	Premature Birth		ISO	RGD:1317236	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:26467025|PMID:28492532|PMID:31108397
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:26467025|PMID:28492532
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:9006617	Fatigue		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:18394578|PMID:19805727|PMID:25741868|PMID:28492532
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317236	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:26467025|PMID:28492532
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:37091313
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:9008589	Hallux Valgus		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	PMID:25741868|PMID:37091313
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	PMID:25741868|PMID:26467025|PMID:28492532
8801198	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532
8801249	Rpa2	replication protein A2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8801249	Rpa2	replication protein A2	gene	DOID:1115	sarcoma		ISO	RGD:1344829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8801249	Rpa2	replication protein A2	gene	DOID:4362	cervical cancer		ISO	RGD:1344829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8801249	Rpa2	replication protein A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801249	Rpa2	replication protein A2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8801249	Rpa2	replication protein A2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8801249	Rpa2	replication protein A2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8801262	Znf783	zinc finger protein 783	gene	DOID:10534	stomach cancer		ISO	RGD:4140607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8801262	Znf783	zinc finger protein 783	gene	DOID:11054	urinary bladder cancer		ISO	RGD:4140607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8801262	Znf783	zinc finger protein 783	gene	DOID:3275	thymoma		ISO	RGD:4140607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8801262	Znf783	zinc finger protein 783	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:4140607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8801262	Znf783	zinc finger protein 783	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:4140607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801262	Znf783	zinc finger protein 783	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:4140607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8801262	Znf783	zinc finger protein 783	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:4140607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8801262	Znf783	zinc finger protein 783	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:4140607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8801279	Slamf9	SLAM family member 9	gene	DOID:10534	stomach cancer		ISO	RGD:1314275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8801279	Slamf9	SLAM family member 9	gene	DOID:1324	lung cancer		ISO	RGD:1314275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8801279	Slamf9	SLAM family member 9	gene	DOID:1909	melanoma		ISO	RGD:1314275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8801279	Slamf9	SLAM family member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8801279	Slamf9	SLAM family member 9	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1314275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8801302	Rnf151	ring finger protein 151	gene	DOID:1115	sarcoma		ISO	RGD:1319576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8801313	Il1rap	interleukin 1 receptor accessory protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8801313	Il1rap	interleukin 1 receptor accessory protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801313	Il1rap	interleukin 1 receptor accessory protein	gene	DOID:10534	stomach cancer		ISO	RGD:732294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8801313	Il1rap	interleukin 1 receptor accessory protein	gene	DOID:1115	sarcoma		ISO	RGD:732294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8801313	Il1rap	interleukin 1 receptor accessory protein	gene	DOID:1324	lung cancer		ISO	RGD:732294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8801313	Il1rap	interleukin 1 receptor accessory protein	gene	DOID:2394	ovarian cancer		ISO	RGD:732294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8801313	Il1rap	interleukin 1 receptor accessory protein	gene	DOID:409	liver disease		ISO	RGD:732294	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
8801313	Il1rap	interleukin 1 receptor accessory protein	gene	DOID:4362	cervical cancer		ISO	RGD:732294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8801313	Il1rap	interleukin 1 receptor accessory protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8801313	Il1rap	interleukin 1 receptor accessory protein	gene	DOID:5041	esophageal cancer		ISO	RGD:732294	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8801313	Il1rap	interleukin 1 receptor accessory protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732294	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27738319
8801313	Il1rap	interleukin 1 receptor accessory protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801313	Il1rap	interleukin 1 receptor accessory protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8801313	Il1rap	interleukin 1 receptor accessory protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732294	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8801313	Il1rap	interleukin 1 receptor accessory protein	gene	DOID:9000918	Disease Progression		ISO	RGD:732294	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27738319
8801313	Il1rap	interleukin 1 receptor accessory protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8801313	Il1rap	interleukin 1 receptor accessory protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8801337	Asb1	ankyrin repeat and SOCS box containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801337	Asb1	ankyrin repeat and SOCS box containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321850	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8801337	Asb1	ankyrin repeat and SOCS box containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8801337	Asb1	ankyrin repeat and SOCS box containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1321850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8801337	Asb1	ankyrin repeat and SOCS box containing 1	gene	DOID:1909	melanoma		ISO	RGD:1321850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8801337	Asb1	ankyrin repeat and SOCS box containing 1	gene	DOID:3275	thymoma		ISO	RGD:1321850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8801337	Asb1	ankyrin repeat and SOCS box containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321850	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8801337	Asb1	ankyrin repeat and SOCS box containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801337	Asb1	ankyrin repeat and SOCS box containing 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8801345	Ankrd44	ankyrin repeat domain 44	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8801345	Ankrd44	ankyrin repeat domain 44	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801345	Ankrd44	ankyrin repeat domain 44	gene	DOID:1115	sarcoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8801345	Ankrd44	ankyrin repeat domain 44	gene	DOID:1324	lung cancer		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8801345	Ankrd44	ankyrin repeat domain 44	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8801345	Ankrd44	ankyrin repeat domain 44	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8801345	Ankrd44	ankyrin repeat domain 44	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8801345	Ankrd44	ankyrin repeat domain 44	gene	DOID:5041	esophageal cancer		ISO	RGD:1605602	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8801345	Ankrd44	ankyrin repeat domain 44	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801345	Ankrd44	ankyrin repeat domain 44	gene	DOID:9000211	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE		ISO	RGD:1605602	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language	PMID:25741868
8801345	Ankrd44	ankyrin repeat domain 44	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8801345	Ankrd44	ankyrin repeat domain 44	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8801345	Ankrd44	ankyrin repeat domain 44	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8801345	Ankrd44	ankyrin repeat domain 44	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8801385	Slc17a7	solute carrier family 17 member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801385	Slc17a7	solute carrier family 17 member 7	gene	DOID:11446	sciatic neuropathy		ISO	RGD:620101	D	RGD:9068941	20200609	RGD		protein:decreased expression:nucleus accumbens	PMID:23835161|REF_RGD_ID:9999206
8801385	Slc17a7	solute carrier family 17 member 7	gene	DOID:11832	visual epilepsy		ISO	RGD:733841	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:18495095
8801385	Slc17a7	solute carrier family 17 member 7	gene	DOID:224	transient cerebral ischemia		ISO	RGD:620101	D	RGD:9068941	20200609	RGD			PMID:23458738|REF_RGD_ID:9999193
8801385	Slc17a7	solute carrier family 17 member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801385	Slc17a7	solute carrier family 17 member 7	gene	DOID:8927	learning disability		ISO	RGD:733841	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21295146
8801385	Slc17a7	solute carrier family 17 member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8801385	Slc17a7	solute carrier family 17 member 7	gene	DOID:9008023	Memory Disorders		ISO	RGD:733841	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21295146
8801405	Prpf38b	pre-mRNA processing factor 38B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801405	Prpf38b	pre-mRNA processing factor 38B	gene	DOID:0060058	lymphoma		ISO	RGD:1605670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8801405	Prpf38b	pre-mRNA processing factor 38B	gene	DOID:1324	lung cancer		ISO	RGD:1605670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8801405	Prpf38b	pre-mRNA processing factor 38B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8801405	Prpf38b	pre-mRNA processing factor 38B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801405	Prpf38b	pre-mRNA processing factor 38B	gene	DOID:9002189	High Myopia		ISO	RGD:1605670	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
8801405	Prpf38b	pre-mRNA processing factor 38B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8801468	Apoc3	apolipoprotein C3	gene	DOID:0080162	lupus nephritis		ISO	RGD:737569	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17957542|REF_RGD_ID:7207211
8801468	Apoc3	apolipoprotein C3	gene	DOID:0111368	cholesterol-ester transfer protein deficiency		ISO	RGD:737569	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: cholesterol-ester transfer protein deficiency	PMID:24941081|PMID:25741868|PMID:28492532
8801468	Apoc3	apolipoprotein C3	gene	DOID:0111370	apolipoprotein C-III deficiency		ISO	RGD:737569	D	RGD:7240710	20180130	OMIM			
8801468	Apoc3	apolipoprotein C3	gene	DOID:0111370	apolipoprotein C-III deficiency		ISO	RGD:737569	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: APOC3-related condition | ClinVar Annotator: match by term: APOLIPOPROTEIN C-III DEFICIENCY | ClinVar Annotator: match by term: Apolipoprotein c-III deficiency	PMID:11060345|PMID:20097930|PMID:23701270|PMID:24941081|PMID:24941082|PMID:25225788|PMID:25741868|PMID:27114411|PMID:28492532|PMID:28825717|PMID:29237685|PMID:30255797|PMID:32041611|PMID:34548093|PMID:36876364
8801468	Apoc3	apolipoprotein C3	gene	DOID:10603	glucose intolerance		ISO	RGD:737569	D	RGD:9068941	20200609	RGD			PMID:11959336|REF_RGD_ID:1578441
8801468	Apoc3	apolipoprotein C3	gene	DOID:10608	celiac disease		ISO	RGD:737569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
8801468	Apoc3	apolipoprotein C3	gene	DOID:1067	open-angle glaucoma		ISO	RGD:737569	D	RGD:9068941	20200609	RGD		protein:increased expression: aqueous humor:	PMID:23860758|REF_RGD_ID:10054092
8801468	Apoc3	apolipoprotein C3	gene	DOID:11266	Hantavirus hemorrhagic fever with renal syndrome	disease_progression	ISO	RGD:737569	D	RGD:9068941	20200609	RGD			PMID:20797315|REF_RGD_ID:7207210
8801468	Apoc3	apolipoprotein C3	gene	DOID:1168	familial hyperlipidemia	treatment	ISO	RGD:10179	D	RGD:9068941	20200609	RGD			PMID:23542898|REF_RGD_ID:10054091
8801468	Apoc3	apolipoprotein C3	gene	DOID:1184	nephrotic syndrome		ISO	RGD:737569	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:8366982|REF_RGD_ID:2313970
8801468	Apoc3	apolipoprotein C3	gene	DOID:1287	cardiovascular system disease		ISO	RGD:737569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16544732
8801468	Apoc3	apolipoprotein C3	gene	DOID:13580	cholestasis		ISO	RGD:2136	D	RGD:9068941	20200609	RGD			PMID:17201892|REF_RGD_ID:10054045
8801468	Apoc3	apolipoprotein C3	gene	DOID:13809	familial combined hyperlipidemia		ISO	RGD:10179	D	RGD:9068941	20200609	RGD			PMID:15863838|REF_RGD_ID:1601225
8801468	Apoc3	apolipoprotein C3	gene	DOID:13809	familial combined hyperlipidemia		ISO	RGD:737569	D	RGD:9068941	20200609	RGD		DNA:haplotype, snp:3' utr:g.3175G>C (human)	PMID:9062353|REF_RGD_ID:5685674
8801468	Apoc3	apolipoprotein C3	gene	DOID:13809	familial combined hyperlipidemia	no_association	ISO	RGD:737569	D	RGD:9068941	20200609	RGD		DNA:haplotype, snp:3' utr:g.3175G>C (human)	PMID:9812922|REF_RGD_ID:5685676
8801468	Apoc3	apolipoprotein C3	gene	DOID:1459	hypothyroidism		ISO	RGD:2136	D	RGD:9068941	20200609	RGD			PMID:8429259|REF_RGD_ID:1599190
8801468	Apoc3	apolipoprotein C3	gene	DOID:1561	cognitive disorder		ISO	RGD:737569	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus;	PMID:19424489|REF_RGD_ID:10054096
8801468	Apoc3	apolipoprotein C3	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:737569	D	RGD:9068941	20220908	RGD			PMID:28715644|REF_RGD_ID:153350084
8801468	Apoc3	apolipoprotein C3	gene	DOID:2154	nephroblastoma		ISO	RGD:737569	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22160518|REF_RGD_ID:7207220
8801468	Apoc3	apolipoprotein C3	gene	DOID:2972	renal artery obstruction		ISO	RGD:737569	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:21613792|REF_RGD_ID:7207208
8801468	Apoc3	apolipoprotein C3	gene	DOID:3145	hyperlipoproteinemia type III		ISO	RGD:737569	D	RGD:9068941	20200609	RGD			PMID:2879788|REF_RGD_ID:1578447
8801468	Apoc3	apolipoprotein C3	gene	DOID:3393	coronary artery disease		ISO	RGD:737569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24097064
8801468	Apoc3	apolipoprotein C3	gene	DOID:3393	coronary artery disease		ISO	RGD:737569	D	RGD:9068941	20200609	RGD			PMID:14709372|REF_RGD_ID:1578443
8801468	Apoc3	apolipoprotein C3	gene	DOID:3393	coronary artery disease		ISO	RGD:737569	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-482C>T, in women without Diabetes Mellitus, Type 2 (MeSH:D003924)	PMID:15059615|REF_RGD_ID:1626412
8801468	Apoc3	apolipoprotein C3	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:737569	D	RGD:9068941	20220901	RGD		protein:decreased expression:serum	PMID:21267442|REF_RGD_ID:153344621
8801468	Apoc3	apolipoprotein C3	gene	DOID:3717	gastric adenocarcinoma	disease_progression	ISO	RGD:737569	D	RGD:9068941	20220908	RGD			PMID:27002935|REF_RGD_ID:153350083
8801468	Apoc3	apolipoprotein C3	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:737569	D	RGD:9068941	20220901	RGD		protein:altered glycosylation::	PMID:19322776|REF_RGD_ID:153344619
8801468	Apoc3	apolipoprotein C3	gene	DOID:5409	lung small cell carcinoma	treatment	ISO	RGD:737569	D	RGD:9068941	20220908	RGD			PMID:26996551|REF_RGD_ID:11561502
8801468	Apoc3	apolipoprotein C3	gene	DOID:5844	myocardial infarction		ISO	RGD:737569	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Myocardial infarction, susceptibility to	PMID:25741868
8801468	Apoc3	apolipoprotein C3	gene	DOID:5844	myocardial infarction	no_association	ISO	RGD:737569	D	RGD:9068941	20200609	RGD			PMID:10428310|REF_RGD_ID:1578442
8801468	Apoc3	apolipoprotein C3	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:737569	D	RGD:9068941	20220908	RGD		associated with hepatitis B;	PMID:31211449|REF_RGD_ID:153350082
8801468	Apoc3	apolipoprotein C3	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:737569	D	RGD:9068941	20220901	RGD		associated with Chronic Hepatitis B;DNA:SNP: :rs2854116(human)	PMID:27547913|REF_RGD_ID:153344620
8801468	Apoc3	apolipoprotein C3	gene	DOID:783	end stage renal disease		ISO	RGD:737569	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent	PMID:8139482|REF_RGD_ID:2313968
8801468	Apoc3	apolipoprotein C3	gene	DOID:783	end stage renal disease		ISO	RGD:737569	D	RGD:9068941	20200609	RGD		protein:increased expression: :	PMID:10822722|REF_RGD_ID:7207212
8801468	Apoc3	apolipoprotein C3	gene	DOID:784	chronic kidney disease		ISO	RGD:737569	D	RGD:9068941	20200609	RGD			PMID:21297177|REF_RGD_ID:7207209
8801468	Apoc3	apolipoprotein C3	gene	DOID:784	chronic kidney disease		ISO	RGD:737569	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:21829457|REF_RGD_ID:7207207
8801468	Apoc3	apolipoprotein C3	gene	DOID:7998	hyperthyroidism		ISO	RGD:2136	D	RGD:9068941	20200609	RGD			PMID:8429259|REF_RGD_ID:1599190
8801468	Apoc3	apolipoprotein C3	gene	DOID:8947	diabetic retinopathy	severity	ISO	RGD:737569	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15642486|REF_RGD_ID:2306768
8801468	Apoc3	apolipoprotein C3	gene	DOID:9000528	Coronary Disease		ISO	RGD:737569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Coronary heart disease	PMID:11060345|PMID:20097930|PMID:23701270|PMID:24941081|PMID:24941082|PMID:28492532|PMID:28825717|PMID:29237685
8801468	Apoc3	apolipoprotein C3	gene	DOID:9000528	Coronary Disease	no_association	ISO	RGD:737569	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-482C>T	PMID:16321685|REF_RGD_ID:1601224
8801468	Apoc3	apolipoprotein C3	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:737569	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:17654446|REF_RGD_ID:2306754
8801468	Apoc3	apolipoprotein C3	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:737569	D	RGD:9068941	20200609	RGD			PMID:2879788|REF_RGD_ID:1578447
8801468	Apoc3	apolipoprotein C3	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:737569	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-455T>C	PMID:16813599|REF_RGD_ID:2306755
8801468	Apoc3	apolipoprotein C3	gene	DOID:9004968	Yin Deficiency		ISO	RGD:2136	D	RGD:9068941	20220908	RGD		protein:decreased expression:serum	PMID:27843478|REF_RGD_ID:153350089
8801468	Apoc3	apolipoprotein C3	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:737569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19180532
8801468	Apoc3	apolipoprotein C3	gene	DOID:9005236	Drug Eruptions		ISO	RGD:737569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21055120
8801468	Apoc3	apolipoprotein C3	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:737569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16030523
8801468	Apoc3	apolipoprotein C3	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:737569	D	RGD:9068941	20200609	RGD			PMID:7705829|REF_RGD_ID:1578444
8801468	Apoc3	apolipoprotein C3	gene	DOID:9006599	Hypertriglyceridemia	susceptibility	ISO	RGD:737569	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent or Coronary Disease;DNA:polymorphism	PMID:15715433|REF_RGD_ID:2306767
8801468	Apoc3	apolipoprotein C3	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:737569	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:16298371|REF_RGD_ID:2306766
8801468	Apoc3	apolipoprotein C3	gene	DOID:9006646	Metabolic Syndrome	susceptibility	ISO	RGD:737569	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-482C>T, -455T>C	PMID:17416293|REF_RGD_ID:1601223
8801468	Apoc3	apolipoprotein C3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8801468	Apoc3	apolipoprotein C3	gene	DOID:9007571	Hyperlipoproteinemias		ISO	RGD:737569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2022742
8801468	Apoc3	apolipoprotein C3	gene	DOID:9007692	Insulin Resistance	susceptibility	ISO	RGD:10179	D	RGD:9068941	20200609	RGD			PMID:15734841|REF_RGD_ID:1601226
8801468	Apoc3	apolipoprotein C3	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:2136	D	RGD:9068941	20200609	RGD			PMID:15007394|REF_RGD_ID:1580750
8801468	Apoc3	apolipoprotein C3	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:737569	D	RGD:9068941	20220901	RGD			PMID:31502404|REF_RGD_ID:153344612
8801468	Apoc3	apolipoprotein C3	gene	DOID:9351	diabetes mellitus		ISO	RGD:737569	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:2352345|REF_RGD_ID:2313973
8801468	Apoc3	apolipoprotein C3	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:2136	D	RGD:9068941	20200609	RGD			PMID:21670290|REF_RGD_ID:7207205
8801468	Apoc3	apolipoprotein C3	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:737569	D	RGD:9068941	20200609	RGD			PMID:1579407|REF_RGD_ID:2313972
8801468	Apoc3	apolipoprotein C3	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	ISO	RGD:737569	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :multiple	PMID:16505251|REF_RGD_ID:2306765
8801468	Apoc3	apolipoprotein C3	gene	DOID:9970	obesity		ISO	RGD:737569	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:9002300|REF_RGD_ID:1601191
8801481	Faxc	failed axon connections homolog, metaxin like GST domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801481	Faxc	failed axon connections homolog, metaxin like GST domain containing	gene	DOID:10283	prostate cancer		ISO	RGD:1347110	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8801481	Faxc	failed axon connections homolog, metaxin like GST domain containing	gene	DOID:10283	prostate cancer		ISO	RGD:1347110	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8801481	Faxc	failed axon connections homolog, metaxin like GST domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801481	Faxc	failed axon connections homolog, metaxin like GST domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8801481	Faxc	failed axon connections homolog, metaxin like GST domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:10534	stomach cancer		ISO	RGD:1312318	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:1059	intellectual disability		ISO	RGD:1312318	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:35982160
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:10907	microcephaly		ISO	RGD:1312318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:10908	hydrocephalus		ISO	RGD:1312318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:11162	respiratory failure		ISO	RGD:1312318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:1143	exotropia		ISO	RGD:1312318	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:35982160
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1312318	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868|PMID:35982160
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:1324	lung cancer		ISO	RGD:1312318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:1826	epilepsy		ISO	RGD:1312318	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:35982160
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:1909	melanoma		ISO	RGD:1312318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:3086	gingival overgrowth		ISO	RGD:1312318	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gingival overgrowth	PMID:25741868|PMID:35982160
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:3275	thymoma		ISO	RGD:1312318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:4362	cervical cancer		ISO	RGD:1312318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:5041	esophageal cancer		ISO	RGD:1312318	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:543	dystonia		ISO	RGD:1312318	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:35982160
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:630	genetic disease		ISO	RGD:1312318	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1312318	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:35982160
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:9000495	Tremor		ISO	RGD:1312318	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868|PMID:35982160
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:9001064	Hao-Fountain Syndrome		ISO	RGD:1312318	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES	PMID:25741868|PMID:35982160
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1312318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:9003132	Sialorrhea		ISO	RGD:1312318	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868|PMID:35982160
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:9003816	Macrocephaly		ISO	RGD:1312318	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:35982160
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1312318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:9005501	Abnormal Cortical Gyration		ISO	RGD:1312318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal cortical gyration	
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312318	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:35982160
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312318	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:35982160
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8801495	Ppfia3	PPFI scaffold protein A3	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1312318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:0050952	spastic ataxia		ISO	RGD:731981	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:731981	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:27569545
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:0070442	paroxysmal nonkinesigenic dyskinesia 3		ISO	RGD:731981	D	RGD:7240710	20260722	OMIM			
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:0070442	paroxysmal nonkinesigenic dyskinesia 3		ISO	RGD:731981	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized epilepsy and paroxysmal dyskinesia | ClinVar Annotator: match by term: PAROXYSMAL NONKINESIGENIC DYSKINESIA 3 WITH OR WITHOUT GENERALIZED EPILEPSY | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy	PMID:18414213|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:0070740	cerebellar atrophy, developmental delay, and seizures		ISO	RGD:731981	D	RGD:7240710	20260722	OMIM			
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:0070740	cerebellar atrophy, developmental delay, and seizures		ISO	RGD:731981	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34224328
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:0080600	COVID-19		ISO	RGD:731981	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:10534	stomach cancer		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:1059	intellectual disability		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:731981	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs16934131 (human)	PMID:21480501|REF_RGD_ID:10412025
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:10907	microcephaly		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:10908	hydrocephalus		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:28492532
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:1115	sarcoma		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:11981	morbid obesity		ISO	RGD:731981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21708048
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:12849	autistic disorder		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:1324	lung cancer		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:1824	status epilepticus		ISO	RGD:731981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18695509
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:1826	epilepsy		ISO	RGD:731981	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:28492532
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:1826	epilepsy		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizure	PMID:25741868|PMID:26467025|PMID:28492532
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:731981	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:1909	melanoma		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:3275	thymoma		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:731981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23797736
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:5041	esophageal cancer		ISO	RGD:731981	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:535	sleep disorder		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:28492532
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:630	genetic disease		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29330545|PMID:31152168|PMID:34224328|PMID:35156297|PMID:35231114|PMID:35982160|PMID:37273706|PMID:38042986
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:6364	migraine		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:28492532
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:731981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28090300
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:9000099	Experimental Colitis		ISO	RGD:620715	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:colon	PMID:23986198|REF_RGD_ID:10412026
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:731981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21695131
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:9002362	Hyperkinesis		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkinetic movements	PMID:25741868
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:9004657	Weight Gain		ISO	RGD:731981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27605626
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:9004866	Ataxia		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:9004958	Idiopathic Generalized Epilepsy 16		ISO	RGD:731981	D	RGD:7240710	20260722	OMIM			
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:9004958	Idiopathic Generalized Epilepsy 16		ISO	RGD:731981	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 16	PMID:25741868|PMID:28492532
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620715	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:aorta, smooth muscle	PMID:24589593|REF_RGD_ID:10412030
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:9006257	Growth Disorders		ISO	RGD:731981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28242822
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:9008539	Perinatal Death		ISO	RGD:731981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28242822
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:9008959	Liang-Wang Syndrome		ISO	RGD:731981	D	RGD:7240710	20260722	OMIM			
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:9008959	Liang-Wang Syndrome		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIANG-WANG SYNDROME | ClinVar Annotator: match by term: Liang-Wang syndrome	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29330545|PMID:31152168
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:731981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15088113
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8801529	Kcnma1	potassium calcium-activated channel subfamily M alpha 1	gene	DOID:9970	obesity		ISO	RGD:731981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27605626
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:0060254	Robinow syndrome		ISO	RGD:733042	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Acral dysostosis with facial and genital abnormalities | ClinVar Annotator: match by term: Robinow syndrome	PMID:25741868|PMID:28492532
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:0060765	autosomal dominant Robinow syndrome 2		ISO	RGD:733042	D	RGD:7240710	20180130	OMIM			
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:0060765	autosomal dominant Robinow syndrome 2		ISO	RGD:733042	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 | ClinVar Annotator: match by term: DVL1-related condition | ClinVar Annotator: match by term: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 | ClinVar Annotator: match by term: autosomal dominant Robinow syndrome 2	PMID:25741868|PMID:25817014|PMID:25817016|PMID:26924530|PMID:28492532|PMID:29276006|PMID:32564284|PMID:35047859|PMID:35137569
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:0060766	autosomal dominant Robinow syndrome 1		ISO	RGD:733042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1	PMID:25741868|PMID:28492532
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:0111853	primary ciliary dyskinesia 40		ISO	RGD:733042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 40	PMID:25741868|PMID:25817014|PMID:25817016|PMID:26924530
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:733042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:10907	microcephaly		ISO	RGD:733042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:733042	D	RGD:9068941	20200609	RGD			PMID:8644734|REF_RGD_ID:1580898
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:11830	myopia		ISO	RGD:733042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:1324	lung cancer		ISO	RGD:733042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:150	disease of mental health		ISO	RGD:733043	D	RGD:9068941	20200609	RGD			PMID:9298901|REF_RGD_ID:734906
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:733042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:5844	myocardial infarction		ISO	RGD:620632	D	RGD:9068941	20200609	RGD			PMID:15256074|REF_RGD_ID:1580899
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:630	genetic disease		ISO	RGD:733042	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:733042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:733042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:733042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:733042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868|PMID:28492532
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:9005077	Joint Instability		ISO	RGD:733042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:733042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:9007661	Dwarfism		ISO	RGD:733042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
8801573	Dvl1	dishevelled segment polarity protein 1	gene	DOID:93	language disorder		ISO	RGD:733042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:25741868
8801590	Rhbdl3	rhomboid like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801590	Rhbdl3	rhomboid like 3	gene	DOID:1909	melanoma		ISO	RGD:1352464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8801590	Rhbdl3	rhomboid like 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8801590	Rhbdl3	rhomboid like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8801590	Rhbdl3	rhomboid like 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8801604	Oxr1	oxidation resistance 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8801604	Oxr1	oxidation resistance 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801604	Oxr1	oxidation resistance 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:736990	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	PMID:25741868|PMID:31785787
8801604	Oxr1	oxidation resistance 1	gene	DOID:0070339	cerebellar hyplasia/atrophy, epilepsy, and global developmental delay		ISO	RGD:736990	D	RGD:7240710	20200325	OMIM			
8801604	Oxr1	oxidation resistance 1	gene	DOID:0070339	cerebellar hyplasia/atrophy, epilepsy, and global developmental delay		ISO	RGD:736990	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: OXR1-related condition	PMID:25741868
8801604	Oxr1	oxidation resistance 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:736990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:36130215
8801604	Oxr1	oxidation resistance 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:736990	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
8801604	Oxr1	oxidation resistance 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8801604	Oxr1	oxidation resistance 1	gene	DOID:1115	sarcoma		ISO	RGD:736990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8801604	Oxr1	oxidation resistance 1	gene	DOID:1324	lung cancer		ISO	RGD:736990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8801604	Oxr1	oxidation resistance 1	gene	DOID:3275	thymoma		ISO	RGD:736990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8801604	Oxr1	oxidation resistance 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:736990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8801604	Oxr1	oxidation resistance 1	gene	DOID:4362	cervical cancer		ISO	RGD:736990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8801604	Oxr1	oxidation resistance 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8801604	Oxr1	oxidation resistance 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736990	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8801604	Oxr1	oxidation resistance 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8801604	Oxr1	oxidation resistance 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801604	Oxr1	oxidation resistance 1	gene	DOID:630	genetic disease		ISO	RGD:736990	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8801604	Oxr1	oxidation resistance 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8801604	Oxr1	oxidation resistance 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8801604	Oxr1	oxidation resistance 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:736990	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
8801604	Oxr1	oxidation resistance 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8801604	Oxr1	oxidation resistance 1	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps		ISO	RGD:736990	D	RGD:9068941	20260430	RGD		mRNA:decreased expression:nasal mucosa	PMID:23136082|REF_RGD_ID:645238743
8801604	Oxr1	oxidation resistance 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8801654	Itih1	inter-alpha-trypsin inhibitor heavy chain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8801654	Itih1	inter-alpha-trypsin inhibitor heavy chain 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1314518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8801654	Itih1	inter-alpha-trypsin inhibitor heavy chain 1	gene	DOID:3312	bipolar disorder		ISO	RGD:1314518	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
8801654	Itih1	inter-alpha-trypsin inhibitor heavy chain 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8801654	Itih1	inter-alpha-trypsin inhibitor heavy chain 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8801654	Itih1	inter-alpha-trypsin inhibitor heavy chain 1	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:1314518	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374069
8801654	Itih1	inter-alpha-trypsin inhibitor heavy chain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8801654	Itih1	inter-alpha-trypsin inhibitor heavy chain 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1314518	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17114358
8801683	Doc2a	double C2 domain alpha	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:731423	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:70833	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:2395	D	RGD:9068941	20241121	RGD		protein:increased expression:cytosol	PMID:25684186|REF_RGD_ID:408418736
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:10534	stomach cancer		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:1059	intellectual disability		ISO	RGD:70833	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868|PMID:28492532
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:10763	hypertension		ISO	RGD:2395	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver, mitochondrion	PMID:19135993|REF_RGD_ID:2303405
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:1115	sarcoma		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:21120950|PMID:25741868|PMID:28492532
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:13042	persistent fetal circulation syndrome		ISO	RGD:70833	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11407344
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:13042	persistent fetal circulation syndrome		ISO	RGD:70833	D	RGD:9068941	20200609	RGD		CACD, OMIM:265380, DNA:polymorphism:T1405N	PMID:11407344|REF_RGD_ID:1600716
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:1324	lung cancer		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:1596	depressive disorder		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:21120950|PMID:25741868|PMID:28492532
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:178	vascular disease		ISO	RGD:70833	D	RGD:9068941	20200609	RGD		venoocclusive disease, DNA:polymorphism:T1405N	PMID:14718356|REF_RGD_ID:1600717
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:1909	melanoma		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:21120950|PMID:25741868|PMID:28492532
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:2234	focal epilepsy		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:3070	high grade glioma		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:22173106|PMID:25741868|PMID:28492532
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:70833	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:22173106|PMID:25741868|PMID:28492532
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:630	genetic disease		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21120950|PMID:25741868|PMID:28492532
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:16199547|PMID:21120950|PMID:25741868|PMID:28492532
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:70833	D	RGD:9068941	20220616	RGD		associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human)	PMID:30901224|REF_RGD_ID:152995286
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9000722	Animal Hepatitis		ISO	RGD:2395	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:8821709|REF_RGD_ID:2303519
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2395	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:17539997|REF_RGD_ID:2303515
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:70833	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15650968
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9001586	Experimental Liver Neoplasms	severity	ISO	RGD:2395	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:3387993|REF_RGD_ID:2303406
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9001733	Tinnitus		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:21120950|PMID:25741868|PMID:28492532
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:2395	D	RGD:9068941	20200609	RGD			PMID:3973436|REF_RGD_ID:2303532
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9002802	Acidoses		ISO	RGD:2395	D	RGD:9068941	20200609	RGD		protein:increased activity:liver (rat)	PMID:9472964|REF_RGD_ID:4144071
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9002957	CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO	treatment	ISO	RGD:10389	D	RGD:9068941	20200609	RGD			PMID:29801986|REF_RGD_ID:13628400
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9003515	Neonatal Pulmonary Hypertension		ISO	RGD:70833	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM | ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to	PMID:12655559|PMID:15164414|PMID:16199547|PMID:16737834|PMID:19793055|PMID:20800523|PMID:21120950|PMID:22173106|PMID:23649895|PMID:24813853|PMID:25741868|PMID:28492532|PMID:32154057|PMID:33309754
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:21120950|PMID:25741868|PMID:28492532
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2395	D	RGD:9068941	20200609	RGD		protein:increased activity:liver (rat)	PMID:2882780|REF_RGD_ID:4144110
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:70833	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16741687
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9006462	Coma		ISO	RGD:70833	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8438805
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:70833	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9007736	Vertigo		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:21120950|PMID:25741868|PMID:28492532
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9007874	Liver Failure		ISO	RGD:2395	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:8836904|REF_RGD_ID:4140432
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9007874	Liver Failure		ISO	RGD:2395	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:11779202|REF_RGD_ID:70249
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9008972	Hyperammonemia		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hyperammonemia	PMID:21120950|PMID:22173106|PMID:25741868|PMID:28492532|PMID:29888426|PMID:31507628
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9280	carbamoyl phosphate synthetase I deficiency disease		ISO	RGD:70833	D	RGD:7240710	20251015	OMIM			
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9280	carbamoyl phosphate synthetase I deficiency disease		ISO	RGD:70833	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY | ClinVar Annotator: match by term: Carbamoyl-phosphate synthase I deficiency | ClinVar Annotator: match by term: Congenital hyperammonemia, type I | ClinVar Annotator: match by term: Hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency | ClinVar Annotator: match by term: carbamoyl phosphate synthetase I deficiency disease	PMID:10471838|PMID:11388595|PMID:11536261|PMID:12655559|PMID:12955727|PMID:15050969|PMID:15164414|PMID:15617192|PMID:15876373|PMID:16199547|PMID:16737834|PMID:17310273|PMID:17357079|PMID:17576681|PMID:18666241|PMID:19167850|PMID:19309799|PMID:19684305|PMID:19793055|PMID:20578160|PMID:20800523|PMID:20855223|PMID:21068339|PMID:21108709|PMID:21120950|PMID:22173106|PMID:22494545|PMID:22575620|PMID:23649895|PMID:24813853|PMID:24880889|PMID:25640679|PMID:25741868|PMID:26059772|PMID:26322415|PMID:26440671|PMID:26666653|PMID:27121329|PMID:27150549|PMID:27290639|PMID:27436290|PMID:28007335|PMID:28444906|PMID:28492532|PMID:28526534|PMID:28658158|PMID:30285816|PMID:31392111|PMID:31392117|PMID:31435610|PMID:31507628|PMID:31749211|PMID:32154057|PMID:32280145|PMID:32447331|PMID:32537019|PMID:32670798|PMID:32718099|PMID:32934962|PMID:33057194|PMID:33190319|PMID:33240318|PMID:33309754|PMID:33309854|PMID:33489762|PMID:33551825|PMID:33611823|PMID:33726816|PMID:33851512|PMID:33924653|PMID:34014557|PMID:34298581|PMID:34440436|PMID:34670888|PMID:34970092|PMID:34973183|PMID:35003817|PMID:35982159|PMID:36340787|PMID:36703223|PMID:37365635|PMID:37427576|PMID:38394969|PMID:38582244|PMID:39174957|PMID:39469307|PMID:8486760|PMID:8831077|PMID:9536098|PMID:9686343|PMID:9711878
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:936	brain disease		ISO	RGD:70833	D	RGD:8554872	20230502	ClinVar		ClinVar Annotator: match by term: Neonatal encephalopathy	PMID:25741868
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:2395	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:20347174|REF_RGD_ID:4144089
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9834	hyperopia		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:21120950|PMID:25741868|PMID:28492532
8801714	Cps1	carbamoyl-phosphate synthase 1	gene	DOID:9970	obesity		ISO	RGD:2395	D	RGD:9068941	20200609	RGD			PMID:15481768|REF_RGD_ID:2303517
8801756	Wdr19	WD repeat domain 19	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness	PMID:23683095|PMID:28492532
8801756	Wdr19	WD repeat domain 19	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:23683095|PMID:28492532
8801756	Wdr19	WD repeat domain 19	gene	DOID:0050576	Senior-Loken syndrome		ISO	RGD:1353133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Senior-Loken syndrome	PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24027799|PMID:24027800|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:28559085|PMID:29068549|PMID:33517396|PMID:34529350|PMID:36909829
8801756	Wdr19	WD repeat domain 19	gene	DOID:0050577	cranioectodermal dysplasia		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cranioectodermal dysplasia	
8801756	Wdr19	WD repeat domain 19	gene	DOID:0050581	brachydactyly		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549
8801756	Wdr19	WD repeat domain 19	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1353133	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome	PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:28973083|PMID:29068549
8801756	Wdr19	WD repeat domain 19	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1353133	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24504730|PMID:25726036|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:28973083|PMID:29068549|PMID:33875766
8801756	Wdr19	WD repeat domain 19	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1353133	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24504730|PMID:25726036|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:28973083|PMID:29068549|PMID:31216405|PMID:33875766
8801756	Wdr19	WD repeat domain 19	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy | ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short ribs | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24504730|PMID:25726036|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:29068549|PMID:34716235|PMID:35368817|PMID:35372954|PMID:36653407
8801756	Wdr19	WD repeat domain 19	gene	DOID:0050795	cone dystrophy		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone dystrophy	PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549|PMID:40183892
8801756	Wdr19	WD repeat domain 19	gene	DOID:0050876	Caroli disease		ISO	RGD:1353133	D	RGD:9068941	20200609	RGD		associated with Nephronophthisis 13;DNA:missense mutations:cds:multiple (human)	PMID:25726036|REF_RGD_ID:11528287
8801756	Wdr19	WD repeat domain 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801756	Wdr19	WD repeat domain 19	gene	DOID:0060340	ciliopathy		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliopathy	PMID:25741868|PMID:32037395
8801756	Wdr19	WD repeat domain 19	gene	DOID:0061282	Senior-Loken syndrome 8		ISO	RGD:1353133	D	RGD:7240710	20180130	OMIM			
8801756	Wdr19	WD repeat domain 19	gene	DOID:0061282	Senior-Loken syndrome 8		ISO	RGD:1353133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SENIOR-LOKEN SYNDROME 8 | ClinVar Annotator: match by term: Senior-Loken syndrome 8	PMID:16199547|PMID:17576681|PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549|PMID:29801666|PMID:32483926|PMID:33532864|PMID:38062428|PMID:9536098
8801756	Wdr19	WD repeat domain 19	gene	DOID:0070571	spermatogenic failure 72		ISO	RGD:1353133	D	RGD:7240710	20220518	OMIM			
8801756	Wdr19	WD repeat domain 19	gene	DOID:0070571	spermatogenic failure 72		ISO	RGD:1353133	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 72	PMID:16199547|PMID:17576681|PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549|PMID:32483926|PMID:38062428|PMID:9536098
8801756	Wdr19	WD repeat domain 19	gene	DOID:0080806	cranioectodermal dysplasia 4		ISO	RGD:1353133	D	RGD:7240710	20180130	OMIM			
8801756	Wdr19	WD repeat domain 19	gene	DOID:0080806	cranioectodermal dysplasia 4		ISO	RGD:1353133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CRANIOECTODERMAL DYSPLASIA 4 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 4	PMID:16199547|PMID:17576681|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24027799|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549|PMID:32483926|PMID:38062428|PMID:9536098
8801756	Wdr19	WD repeat domain 19	gene	DOID:0110089	asphyxiating thoracic dystrophy 5		ISO	RGD:1353133	D	RGD:7240710	20180130	OMIM			
8801756	Wdr19	WD repeat domain 19	gene	DOID:0110089	asphyxiating thoracic dystrophy 5		ISO	RGD:1353133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY	PMID:16199547|PMID:17576681|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24504730|PMID:25726036|PMID:25741868|PMID:26275793|PMID:27241786|PMID:27596865|PMID:28492532|PMID:28621010|PMID:29068549|PMID:29121203|PMID:31054281|PMID:31725169|PMID:32037395|PMID:32483926|PMID:33532864|PMID:34529350|PMID:34906470|PMID:35140360|PMID:36729443|PMID:36909829|PMID:38062428|PMID:9536098
8801756	Wdr19	WD repeat domain 19	gene	DOID:0110097	short-rib thoracic dysplasia 9 with or without polydactyly		ISO	RGD:1353133	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY	PMID:25741868|PMID:33532864
8801756	Wdr19	WD repeat domain 19	gene	DOID:0111121	nephronophthisis 13		ISO	RGD:1353133	D	RGD:7240710	20180130	OMIM			
8801756	Wdr19	WD repeat domain 19	gene	DOID:0111121	nephronophthisis 13		ISO	RGD:1353133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEPHRONOPHTHISIS 13 | ClinVar Annotator: match by term: Nephronophthisis 13	PMID:16199547|PMID:17576681|PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549|PMID:32483926|PMID:33532864|PMID:38062428|PMID:9536098
8801756	Wdr19	WD repeat domain 19	gene	DOID:10534	stomach cancer		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8801756	Wdr19	WD repeat domain 19	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868
8801756	Wdr19	WD repeat domain 19	gene	DOID:1059	intellectual disability		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:23683095|PMID:28492532
8801756	Wdr19	WD repeat domain 19	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:23683095|PMID:28492532
8801756	Wdr19	WD repeat domain 19	gene	DOID:1115	sarcoma		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8801756	Wdr19	WD repeat domain 19	gene	DOID:12678	hypercalcemia		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercalcemia	PMID:23683095|PMID:28492532
8801756	Wdr19	WD repeat domain 19	gene	DOID:12712	nephronophthisis		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549|PMID:33875766
8801756	Wdr19	WD repeat domain 19	gene	DOID:1909	melanoma		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8801756	Wdr19	WD repeat domain 19	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1353133	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:25741868|PMID:28492532
8801756	Wdr19	WD repeat domain 19	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8801756	Wdr19	WD repeat domain 19	gene	DOID:2355	anemia		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:23683095|PMID:28492532
8801756	Wdr19	WD repeat domain 19	gene	DOID:2841	asthma		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:23683095|PMID:28492532
8801756	Wdr19	WD repeat domain 19	gene	DOID:2921	glomerulonephritis		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glomerulonephritis	PMID:23683095|PMID:28492532
8801756	Wdr19	WD repeat domain 19	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	PMID:23683095|PMID:28492532
8801756	Wdr19	WD repeat domain 19	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8801756	Wdr19	WD repeat domain 19	gene	DOID:4362	cervical cancer		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8801756	Wdr19	WD repeat domain 19	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8801756	Wdr19	WD repeat domain 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1353133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8801756	Wdr19	WD repeat domain 19	gene	DOID:5679	retinal disease		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:22019273|PMID:23559409|PMID:23683095|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549|PMID:30266093
8801756	Wdr19	WD repeat domain 19	gene	DOID:5723	optic atrophy		ISO	RGD:1353133	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8801756	Wdr19	WD repeat domain 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801756	Wdr19	WD repeat domain 19	gene	DOID:576	proteinuria		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:23683095|PMID:28492532
8801756	Wdr19	WD repeat domain 19	gene	DOID:630	genetic disease		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23683095|PMID:25741868|PMID:28492532
8801756	Wdr19	WD repeat domain 19	gene	DOID:65	connective tissue disease		ISO	RGD:1353133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32483926|PMID:9536098
8801756	Wdr19	WD repeat domain 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8801756	Wdr19	WD repeat domain 19	gene	DOID:784	chronic kidney disease		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:23683095|PMID:28492532
8801756	Wdr19	WD repeat domain 19	gene	DOID:8499	night blindness		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Night blindness | ClinVar Annotator: match by term: Nyctalopia	PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549
8801756	Wdr19	WD repeat domain 19	gene	DOID:8501	fundus dystrophy		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:26355662|PMID:26489029|PMID:28492532|PMID:29620724|PMID:30586318|PMID:32055034|PMID:38057357
8801756	Wdr19	WD repeat domain 19	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:23683095|PMID:28492532
8801756	Wdr19	WD repeat domain 19	gene	DOID:9004507	Hirsutism		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:23683095|PMID:28492532
8801756	Wdr19	WD repeat domain 19	gene	DOID:9005077	Joint Instability		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:23683095|PMID:28492532
8801756	Wdr19	WD repeat domain 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8801756	Wdr19	WD repeat domain 19	gene	DOID:9007573	Flatfoot		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:23683095|PMID:28492532
8801756	Wdr19	WD repeat domain 19	gene	DOID:9007661	Dwarfism		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:23683095|PMID:28492532
8801756	Wdr19	WD repeat domain 19	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23683095|PMID:28492532
8801756	Wdr19	WD repeat domain 19	gene	DOID:9008421	Epistaxis		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:23683095|PMID:28492532
8801756	Wdr19	WD repeat domain 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8801756	Wdr19	WD repeat domain 19	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8801756	Wdr19	WD repeat domain 19	gene	DOID:9249	Beemer-Langer syndrome		ISO	RGD:1353133	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: short-rib polydactyly syndrome type IV	PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549
8801756	Wdr19	WD repeat domain 19	gene	DOID:9970	obesity		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:23683095|PMID:28492532
8801802	Mgat5	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801802	Mgat5	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:737363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8801802	Mgat5	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase	gene	DOID:2513	basal cell carcinoma		ISO	RGD:737363	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8801802	Mgat5	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase	gene	DOID:3275	thymoma		ISO	RGD:737363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8801802	Mgat5	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:737363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8801802	Mgat5	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:737363	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8801802	Mgat5	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801802	Mgat5	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase	gene	DOID:576	proteinuria		ISO	RGD:620100	D	RGD:9068941	20200609	RGD			PMID:21257920|REF_RGD_ID:12798539
8801802	Mgat5	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase	gene	DOID:6039	uveal melanoma		ISO	RGD:737363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8801802	Mgat5	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8801802	Mgat5	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737363	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23798564
8801802	Mgat5	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase	gene	DOID:9006549	Enterovirus Infections		ISO	RGD:737363	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28446605
8801802	Mgat5	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8801802	Mgat5	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8801845	Rai14	retinoic acid induced 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801845	Rai14	retinoic acid induced 14	gene	DOID:10534	stomach cancer		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8801845	Rai14	retinoic acid induced 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8801845	Rai14	retinoic acid induced 14	gene	DOID:1115	sarcoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8801845	Rai14	retinoic acid induced 14	gene	DOID:1324	lung cancer		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8801845	Rai14	retinoic acid induced 14	gene	DOID:1909	melanoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8801845	Rai14	retinoic acid induced 14	gene	DOID:3275	thymoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8801845	Rai14	retinoic acid induced 14	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8801845	Rai14	retinoic acid induced 14	gene	DOID:4362	cervical cancer		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8801845	Rai14	retinoic acid induced 14	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8801845	Rai14	retinoic acid induced 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8801845	Rai14	retinoic acid induced 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1314269	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8801845	Rai14	retinoic acid induced 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801845	Rai14	retinoic acid induced 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8801845	Rai14	retinoic acid induced 14	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8801845	Rai14	retinoic acid induced 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8801845	Rai14	retinoic acid induced 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8801874	Zhx3	zinc fingers and homeoboxes 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801874	Zhx3	zinc fingers and homeoboxes 3	gene	DOID:10534	stomach cancer		ISO	RGD:1342474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8801874	Zhx3	zinc fingers and homeoboxes 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8801874	Zhx3	zinc fingers and homeoboxes 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801874	Zhx3	zinc fingers and homeoboxes 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8801909	Pou2f2	POU class 2 homeobox 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8801909	Pou2f2	POU class 2 homeobox 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801909	Pou2f2	POU class 2 homeobox 2	gene	DOID:1324	lung cancer		ISO	RGD:1347223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8801909	Pou2f2	POU class 2 homeobox 2	gene	DOID:4362	cervical cancer		ISO	RGD:1347223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8801909	Pou2f2	POU class 2 homeobox 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347223	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8801909	Pou2f2	POU class 2 homeobox 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801909	Pou2f2	POU class 2 homeobox 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8801909	Pou2f2	POU class 2 homeobox 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1347223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
8801909	Pou2f2	POU class 2 homeobox 2	gene	DOID:9005936	Gastro-Enteropancreatic Neuroendocrine Tumor		ISO	RGD:1347223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915428
8801909	Pou2f2	POU class 2 homeobox 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8801909	Pou2f2	POU class 2 homeobox 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8801941	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8801941	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801941	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:1115	sarcoma		ISO	RGD:1342649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8801941	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:1909	melanoma		ISO	RGD:1342649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8801941	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8801941	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:5041	esophageal cancer		ISO	RGD:1342649	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8801941	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801941	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8801941	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8801941	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1342649	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8801941	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8801941	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8801941	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8801966	Ghitm	growth hormone inducible transmembrane protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8801966	Ghitm	growth hormone inducible transmembrane protein	gene	DOID:1115	sarcoma		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8801966	Ghitm	growth hormone inducible transmembrane protein	gene	DOID:1324	lung cancer		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8801966	Ghitm	growth hormone inducible transmembrane protein	gene	DOID:1909	melanoma		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8801966	Ghitm	growth hormone inducible transmembrane protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8801966	Ghitm	growth hormone inducible transmembrane protein	gene	DOID:4362	cervical cancer		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8801966	Ghitm	growth hormone inducible transmembrane protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801966	Ghitm	growth hormone inducible transmembrane protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8801966	Ghitm	growth hormone inducible transmembrane protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8801985	Xrra1	X-ray radiation resistance associated 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8801985	Xrra1	X-ray radiation resistance associated 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8801985	Xrra1	X-ray radiation resistance associated 1	gene	DOID:1324	lung cancer		ISO	RGD:1313568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8801985	Xrra1	X-ray radiation resistance associated 1	gene	DOID:1909	melanoma		ISO	RGD:1313568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8801985	Xrra1	X-ray radiation resistance associated 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8801985	Xrra1	X-ray radiation resistance associated 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8801985	Xrra1	X-ray radiation resistance associated 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313568	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8801985	Xrra1	X-ray radiation resistance associated 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8801985	Xrra1	X-ray radiation resistance associated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8801985	Xrra1	X-ray radiation resistance associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8801985	Xrra1	X-ray radiation resistance associated 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8802023	Hoxb7	homeobox B7	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1349103	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast epithelium (human)	PMID:17018609|REF_RGD_ID:10402178
8802023	Hoxb7	homeobox B7	gene	DOID:3748	esophagus squamous cell carcinoma	severity	ISO	RGD:1349103	D	RGD:9068941	20200609	RGD		protein:increased expression:esophageal mucosa (human)	PMID:26076456|REF_RGD_ID:10402177
8802023	Hoxb7	homeobox B7	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1349103	D	RGD:9068941	20200609	RGD		protein:increased expression:lung epithelium (human)	PMID:22911672|REF_RGD_ID:10402176
8802023	Hoxb7	homeobox B7	gene	DOID:4362	cervical cancer		ISO	RGD:1349103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8802023	Hoxb7	homeobox B7	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1349103	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
8802036	Snx2	sorting nexin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8802036	Snx2	sorting nexin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802036	Snx2	sorting nexin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8802036	Snx2	sorting nexin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8802036	Snx2	sorting nexin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321108	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8802036	Snx2	sorting nexin 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8802036	Snx2	sorting nexin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802036	Snx2	sorting nexin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8802036	Snx2	sorting nexin 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8802036	Snx2	sorting nexin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802036	Snx2	sorting nexin 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
8802036	Snx2	sorting nexin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8802036	Snx2	sorting nexin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8802055	Lancl3	LanC like family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8802055	Lancl3	LanC like family member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8802055	Lancl3	LanC like family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802067	Luzp1	leucine zipper protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8802067	Luzp1	leucine zipper protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802067	Luzp1	leucine zipper protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8802067	Luzp1	leucine zipper protein 1	gene	DOID:3275	thymoma		ISO	RGD:736317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8802067	Luzp1	leucine zipper protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802067	Luzp1	leucine zipper protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802081	Creb3l1	cAMP responsive element binding protein 3 like 1	gene	DOID:0110345	osteogenesis imperfecta type 16		ISO	RGD:1342471	D	RGD:7240710	20190315	OMIM			
8802081	Creb3l1	cAMP responsive element binding protein 3 like 1	gene	DOID:0110345	osteogenesis imperfecta type 16		ISO	RGD:1342471	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CREB3L1-related condition | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XVI | ClinVar Annotator: match by term: Osteogenesis imperfecta type 16 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type xvi	PMID:24033266|PMID:25741868|PMID:28492532
8802081	Creb3l1	cAMP responsive element binding protein 3 like 1	gene	DOID:3275	thymoma		ISO	RGD:1342471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8802081	Creb3l1	cAMP responsive element binding protein 3 like 1	gene	DOID:3307	teratoma		ISO	RGD:1342471	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Teratoma	
8802081	Creb3l1	cAMP responsive element binding protein 3 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802081	Creb3l1	cAMP responsive element binding protein 3 like 1	gene	DOID:630	genetic disease		ISO	RGD:1342471	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8802081	Creb3l1	cAMP responsive element binding protein 3 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8802081	Creb3l1	cAMP responsive element binding protein 3 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802081	Creb3l1	cAMP responsive element binding protein 3 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8802097	Krt1	keratin 1	gene	DOID:0050428	nonepidermolytic palmoplantar keratoderma		ISO	RGD:1346930	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse nonepidermolytic palmoplantar keratoderma | ClinVar Annotator: match by term: Nonepidermolytic palmoplantar keratoderma | ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC	PMID:19470048|PMID:25741868|PMID:28492532
8802097	Krt1	keratin 1	gene	DOID:0060877	bullous congenital ichthyosiform erythroderma		ISO	RGD:1346930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital bullous ichthyosiform erythroderma	PMID:25741868|PMID:28492532
8802097	Krt1	keratin 1	gene	DOID:0070550	KRT1-related nonepidermolytic palmoplantar keratoderma		ISO	RGD:1346930	D	RGD:7240710	20240703	OMIM			
8802097	Krt1	keratin 1	gene	DOID:0070551	epidermolytic palmoplantar keratoderma 2		ISO	RGD:1346930	D	RGD:7240710	20230614	OMIM			
8802097	Krt1	keratin 1	gene	DOID:0070551	epidermolytic palmoplantar keratoderma 2		ISO	RGD:1346930	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, 2	PMID:11286630|PMID:16227096|PMID:25741868|PMID:28492532|PMID:33081034|PMID:37122192
8802097	Krt1	keratin 1	gene	DOID:0070552	epidermolytic palmoplantar keratoderma 1		ISO	RGD:1346930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma, 1	PMID:25741868
8802097	Krt1	keratin 1	gene	DOID:0080223	epidermolytic palmoplantar keratoderma		ISO	RGD:1346930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Palmoplantar keratoderma, epidermolytic	PMID:25741868
8802097	Krt1	keratin 1	gene	DOID:0081110	keratosis palmoplantaris striata 3		ISO	RGD:1346930	D	RGD:7240710	20180130	OMIM			
8802097	Krt1	keratin 1	gene	DOID:0081110	keratosis palmoplantaris striata 3		ISO	RGD:1346930	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: STRIATE PALMOPLANTAR KERATODERMA III	PMID:25741868
8802097	Krt1	keratin 1	gene	DOID:0081358	epidermolytic hyperkeratosis 1		ISO	RGD:1346930	D	RGD:7240710	20230517	OMIM			
8802097	Krt1	keratin 1	gene	DOID:0081358	epidermolytic hyperkeratosis 1		ISO	RGD:1346930	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYTIC HYPERKERATOSIS 1 | ClinVar Annotator: match by term: Epidermolytic hyperkeratosis 1	PMID:10232403|PMID:12406348|PMID:1284546|PMID:1381288|PMID:22930352|PMID:25741868|PMID:26581228|PMID:28492532|PMID:33363884|PMID:7512983
8802097	Krt1	keratin 1	gene	DOID:10283	prostate cancer		ISO	RGD:1346930	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8802097	Krt1	keratin 1	gene	DOID:10283	prostate cancer		ISO	RGD:1346930	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8802097	Krt1	keratin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8802097	Krt1	keratin 1	gene	DOID:161	keratosis		ISO	RGD:1346930	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35363433
8802097	Krt1	keratin 1	gene	DOID:1697	ichthyosis		ISO	RGD:1346930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis	PMID:25741868|PMID:28492532
8802097	Krt1	keratin 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1346930	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18572023
8802097	Krt1	keratin 1	gene	DOID:3275	thymoma		ISO	RGD:1346930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8802097	Krt1	keratin 1	gene	DOID:4603	epidermolytic hyperkeratosis		ISO	RGD:1346930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma | ClinVar Annotator: match by term: Epidermolytic ichthyosis	PMID:25741868|PMID:28492532
8802097	Krt1	keratin 1	gene	DOID:4603	epidermolytic hyperkeratosis	susceptibility	ISO	RGD:1346930	D	RGD:9068941	20200609	RGD		DNA:mutation: ; 5191/5192GG>A	PMID:11286616|REF_RGD_ID:1600166
8802097	Krt1	keratin 1	gene	DOID:630	genetic disease		ISO	RGD:1346930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8802097	Krt1	keratin 1	gene	DOID:9002744	Ichthyosis Hystrix, Curth Macklin Type		ISO	RGD:1346930	D	RGD:7240710	20180130	OMIM			
8802097	Krt1	keratin 1	gene	DOID:9002744	Ichthyosis Hystrix, Curth Macklin Type		ISO	RGD:1346930	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE | ClinVar Annotator: match by term: Ichthyosis hystrix of Curth-Macklin	PMID:25741868
8802097	Krt1	keratin 1	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1346930	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18572023
8802097	Krt1	keratin 1	gene	DOID:9004887	Annular Epidermolytic Ichthyosis 1		ISO	RGD:1346930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic 1	PMID:14708600|PMID:25741868|PMID:31046801|PMID:8751983
8802097	Krt1	keratin 1	gene	DOID:9005778	Annular Epidermolytic Ichthyosis		ISO	RGD:1346930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Annular epidermolytic ichthyosis	PMID:25741868
8802097	Krt1	keratin 1	gene	DOID:9006224	Reticular Erythrokeratoderma		ISO	RGD:1346930	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ichthyosis with confetti	PMID:25774499
8802097	Krt1	keratin 1	gene	DOID:9006935	Annular Epidermolytic Ichthyosis 2		ISO	RGD:1346930	D	RGD:7240710	20221214	OMIM			
8802097	Krt1	keratin 1	gene	DOID:9006935	Annular Epidermolytic Ichthyosis 2		ISO	RGD:1346930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ICHTHYOSIS, ANNULAR EPIDERMOLYTIC, 2	PMID:10053007|PMID:15214894|PMID:22250628|PMID:25741868|PMID:28492532|PMID:30152556
8802097	Krt1	keratin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8802108	Ermp1	endoplasmic reticulum metallopeptidase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802108	Ermp1	endoplasmic reticulum metallopeptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8802108	Ermp1	endoplasmic reticulum metallopeptidase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8802108	Ermp1	endoplasmic reticulum metallopeptidase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8802108	Ermp1	endoplasmic reticulum metallopeptidase 1	gene	DOID:3275	thymoma		ISO	RGD:1348332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8802108	Ermp1	endoplasmic reticulum metallopeptidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8802108	Ermp1	endoplasmic reticulum metallopeptidase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8802108	Ermp1	endoplasmic reticulum metallopeptidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802108	Ermp1	endoplasmic reticulum metallopeptidase 1	gene	DOID:784	chronic kidney disease		ISO	RGD:1614936	D	RGD:9068941	20250313	MouseDO			
8802108	Ermp1	endoplasmic reticulum metallopeptidase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802108	Ermp1	endoplasmic reticulum metallopeptidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8802130	Phyhipl	phytanoyl-CoA 2-hydroxylase interacting protein like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:0050453	lissencephaly		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lissencephaly	
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:0080918	polymicrogyria		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:10907	microcephaly		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:1143	exotropia		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:11782	astigmatism		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:12143	neurogenic bladder		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurogenic bladder	
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1347703	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:305	carcinoma		ISO	RGD:1347703	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:630	genetic disease		ISO	RGD:1347703	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1347703	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1347703	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8802150	Basp1	brain abundant membrane attached signal protein 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
8802160	Zbtb7a	zinc finger and BTB domain containing 7A	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1350408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: recurrent infections	
8802160	Zbtb7a	zinc finger and BTB domain containing 7A	gene	DOID:0070059	autosomal dominant intellectual developmental disorder 29		ISO	RGD:1350408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 29	PMID:25741868
8802160	Zbtb7a	zinc finger and BTB domain containing 7A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8802160	Zbtb7a	zinc finger and BTB domain containing 7A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8802160	Zbtb7a	zinc finger and BTB domain containing 7A	gene	DOID:3068	glioblastoma		ISO	RGD:1350408	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25875864
8802160	Zbtb7a	zinc finger and BTB domain containing 7A	gene	DOID:630	genetic disease		ISO	RGD:1350408	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8802160	Zbtb7a	zinc finger and BTB domain containing 7A	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1350408	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23727861
8802160	Zbtb7a	zinc finger and BTB domain containing 7A	gene	DOID:9002875	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN		ISO	RGD:1350408	D	RGD:7240710	20220504	OMIM			
8802160	Zbtb7a	zinc finger and BTB domain containing 7A	gene	DOID:9002875	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN		ISO	RGD:1350408	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN | ClinVar Annotator: match by term: Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | ClinVar Annotator: match by term: macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin	PMID:25741868|PMID:31645653|PMID:34515416
8802160	Zbtb7a	zinc finger and BTB domain containing 7A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802160	Zbtb7a	zinc finger and BTB domain containing 7A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350408	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27798625
8802173	Anxa9	annexin A9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802173	Anxa9	annexin A9	gene	DOID:10534	stomach cancer		ISO	RGD:1352405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8802173	Anxa9	annexin A9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8802173	Anxa9	annexin A9	gene	DOID:1909	melanoma		ISO	RGD:1352405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8802173	Anxa9	annexin A9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802173	Anxa9	annexin A9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8802173	Anxa9	annexin A9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802192	Aph1a	aph-1A gamma-secretase subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8802192	Aph1a	aph-1A gamma-secretase subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802192	Aph1a	aph-1A gamma-secretase subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1349695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8802192	Aph1a	aph-1A gamma-secretase subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8802192	Aph1a	aph-1A gamma-secretase subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802192	Aph1a	aph-1A gamma-secretase subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8802192	Aph1a	aph-1A gamma-secretase subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802192	Aph1a	aph-1A gamma-secretase subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8802192	Aph1a	aph1 homolog A, gamma secretase subunit	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:1550286	D	RGD:9068941	20260801	RGD			PMID:29926633|REF_RGD_ID:13703123
8802218	Cisd3	CDGSH iron sulfur domain 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1626692	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802218	Cisd3	CDGSH iron sulfur domain 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1626692	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8802218	Cisd3	CDGSH iron sulfur domain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1626692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802225	Ccna2	cyclin A2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802225	Ccna2	cyclin A2	gene	DOID:0080600	COVID-19		ISO	RGD:1348754	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8802225	Ccna2	cyclin A2	gene	DOID:10534	stomach cancer		ISO	RGD:1348754	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8802225	Ccna2	cyclin A2	gene	DOID:1059	intellectual disability		ISO	RGD:1348754	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
8802225	Ccna2	cyclin A2	gene	DOID:1324	lung cancer		ISO	RGD:1348754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8802225	Ccna2	cyclin A2	gene	DOID:1909	melanoma		ISO	RGD:1348754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8802225	Ccna2	cyclin A2	gene	DOID:3275	thymoma		ISO	RGD:1348754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8802225	Ccna2	cyclin A2	gene	DOID:3308	embryonal carcinoma		ISO	RGD:1348754	D	RGD:9068941	20200609	RGD		protein:increased expression:testis	PMID:14696091|REF_RGD_ID:2293346
8802225	Ccna2	cyclin A2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8802225	Ccna2	cyclin A2	gene	DOID:4362	cervical cancer		ISO	RGD:1348754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8802225	Ccna2	cyclin A2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348754	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29464035
8802225	Ccna2	cyclin A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802225	Ccna2	cyclin A2	gene	DOID:5844	myocardial infarction		ISO	RGD:621059	D	RGD:9068941	20200609	RGD		protein:increased expression:cardiomyocyte:	PMID:23634243|REF_RGD_ID:10054471
8802225	Ccna2	cyclin A2	gene	DOID:6000	congestive heart failure		ISO	RGD:1550849	D	RGD:9068941	20200609	RGD			PMID:16820573|REF_RGD_ID:2293348
8802225	Ccna2	cyclin A2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1348754	D	RGD:9068941	20200609	RGD		associated with Seminoma;protein:increased expression:testis	PMID:14696091|REF_RGD_ID:2293346
8802225	Ccna2	cyclin A2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348754	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8802225	Ccna2	cyclin A2	gene	DOID:9002304	Prostatic Neoplasms	severity	ISO	RGD:1550849	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:16452231|REF_RGD_ID:2293344
8802225	Ccna2	cyclin A2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1550849	D	RGD:9068941	20200609	RGD		protein:increased expression:mammary gland	PMID:10713672|REF_RGD_ID:2293347
8802225	Ccna2	cyclin A2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:621059	D	RGD:9068941	20200609	RGD			PMID:20031167|REF_RGD_ID:2316310
8802225	Ccna2	cyclin A2	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:621059	D	RGD:9068941	20200609	RGD		mRNA:increased expression:artery:	PMID:18667424|REF_RGD_ID:10054494
8802225	Ccna2	cyclin A2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1550849	D	RGD:9068941	20200609	RGD			PMID:17382628|REF_RGD_ID:10054468
8802225	Ccna2	cyclin A2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8802237	Dnai4	dynein axonemal intermediate chain 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8802237	Dnai4	dynein axonemal intermediate chain 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802237	Dnai4	dynein axonemal intermediate chain 4	gene	DOID:1115	sarcoma		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8802237	Dnai4	dynein axonemal intermediate chain 4	gene	DOID:4362	cervical cancer		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8802237	Dnai4	dynein axonemal intermediate chain 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8802237	Dnai4	dynein axonemal intermediate chain 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8802237	Dnai4	dynein axonemal intermediate chain 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1605635	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8802237	Dnai4	dynein axonemal intermediate chain 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802237	Dnai4	dynein axonemal intermediate chain 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8802237	Dnai4	dynein axonemal intermediate chain 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802265	Krt25	keratin 25	gene	DOID:0111574	autosomal recessive woolly hair 3		ISO	RGD:1353851	D	RGD:7240710	20190315	OMIM			
8802265	Krt25	keratin 25	gene	DOID:0111574	autosomal recessive woolly hair 3		ISO	RGD:1353851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: KRT25-related condition | ClinVar Annotator: match by term: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3, WITH HYPOTRICHOSIS | ClinVar Annotator: match by term: Woolly hair, autosomal recessive 3	PMID:26902920|PMID:28492532
8802265	Krt25	keratin 25	gene	DOID:9001083	Autosomal Recessive Woolly Hair		ISO	RGD:1353851	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive woolly hair	PMID:26160856
8802277	Tmem200b	transmembrane protein 200B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802281	Elf2	E74 like ETS transcription factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8802281	Elf2	E74 like ETS transcription factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802281	Elf2	E74 like ETS transcription factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8802281	Elf2	E74 like ETS transcription factor 2	gene	DOID:1909	melanoma		ISO	RGD:1321579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8802281	Elf2	E74 like ETS transcription factor 2	gene	DOID:3275	thymoma		ISO	RGD:1321579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8802281	Elf2	E74 like ETS transcription factor 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8802281	Elf2	E74 like ETS transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802281	Elf2	E74 like ETS transcription factor 2	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1321579	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8802316	Dipk1a	divergent protein kinase domain 1A	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:11350498|RGD:11351670|RGD:11580345|RGD:11581319|RGD:11582280|RGD:126740499|RGD:126756251|RGD:126756884|RGD:126769003|RGD:126909314|RGD:127237074|RGD:127247823|RGD:127258301|RGD:127283747|RGD:127288413|RGD:127291544|RGD:127328892|RGD:12884606|RGD:12890396|RGD:12892560|RGD:13606920|RGD:13813125|RGD:13815660|RGD:14719418|RGD:14742221|RGD:15101190|RGD:15110305|RGD:151793196|RGD:151794930|RGD:151795489|RGD:151817285|RGD:151819763|RGD:151827351|RGD:151829982|RGD:151831091|RGD:152047758|RGD:152051610|RGD:152051820|RGD:152054341|RGD:152054411|RGD:152054521|RGD:152055223|RGD:152057252|RGD:152058398|RGD:155725835|RGD:155945599|RGD:155945832|RGD:155947761|RGD:155948260|RGD:155989089|RGD:155992752|RGD:155997879|RGD:156023385|RGD:156025231|RGD:156062216|RGD:156074282|RGD:156092750|RGD:156104956|RGD:156126560|RGD:156157784|RGD:156182634|RGD:156194830|RGD:156239985|RGD:156307719|RGD:156311131|RGD:156315171|RGD:156319230|RGD:156351107|RGD:156359484|RGD:156362560|RGD:156382227|RGD:156396860|RGD:156402069|RGD:156417749|RGD:156435648|RGD:156435718|RGD:26920232|RGD:38485898|RGD:38487191|RGD:38489852|RGD:38491263|RGD:402475023|RGD:402484339|RGD:402484347|RGD:402484768|RGD:402484779|RGD:402484813|RGD:402484829|RGD:402484836|RGD:402484848|RGD:402484861|RGD:402484870|RGD:402484884|RGD:402484895|RGD:402484928|RGD:402484957|RGD:402484968|RGD:402484979|RGD:404981030|RGD:405031218|RGD:405031235|RGD:405031244|RGD:405031265|RGD:405031282|RGD:405031312|RGD:405031360|RGD:405031499|RGD:405031511|RGD:405031551|RGD:405031566|RGD:405031578|RGD:405031623|RGD:405031666|RGD:405031679|RGD:405031708|RGD:405031721|RGD:405031732|RGD:405031749|RGD:405032055|RGD:405064360|RGD:405072188|RGD:405075550	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:28492532
8802316	Dipk1a	divergent protein kinase domain 1A	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:11351670|RGD:11580345|RGD:11581319|RGD:11582280|RGD:126740499|RGD:126756251|RGD:126756884|RGD:126769003|RGD:126909314|RGD:127237074|RGD:127247823|RGD:127258301|RGD:127283747|RGD:127288413|RGD:127291544|RGD:127328892|RGD:12884606|RGD:12890396|RGD:12892560|RGD:13606920|RGD:13813125|RGD:13815660|RGD:14719418|RGD:14742221|RGD:15101190|RGD:15110305|RGD:151793196|RGD:151794930|RGD:151795489|RGD:151817285|RGD:151819763|RGD:151827351|RGD:151829982|RGD:151831091|RGD:152047758|RGD:152051610|RGD:152051820|RGD:152054341|RGD:152054411|RGD:152054521|RGD:152055223|RGD:152057252|RGD:152058398|RGD:155725835|RGD:155945599|RGD:155945832|RGD:155947761|RGD:155948260|RGD:155989089|RGD:155992752|RGD:155997879|RGD:156023385|RGD:156025231|RGD:156062216|RGD:156074282|RGD:156092750|RGD:156104956|RGD:156126560|RGD:156157784|RGD:156182634|RGD:156194830|RGD:156239985|RGD:156307719|RGD:156311131|RGD:156315171|RGD:156319230|RGD:156351107|RGD:156359484|RGD:156362560|RGD:156382227|RGD:156396860|RGD:156402069|RGD:156417749|RGD:156435648|RGD:156435718|RGD:26920232|RGD:38485898|RGD:38487191|RGD:38489852|RGD:38491263|RGD:402475023|RGD:402484339|RGD:402484347|RGD:402484768|RGD:402484779|RGD:402484813|RGD:402484829|RGD:402484836|RGD:402484848|RGD:402484861|RGD:402484870|RGD:402484884|RGD:402484895|RGD:402484928|RGD:402484957|RGD:402484968|RGD:402484979|RGD:404981030|RGD:405031218|RGD:405031235|RGD:405031244|RGD:405031265|RGD:405031282|RGD:405031312|RGD:405031360|RGD:405031499|RGD:405031511|RGD:405031551|RGD:405031566|RGD:405031578|RGD:405031623|RGD:405031666|RGD:405031679|RGD:405031708|RGD:405031721|RGD:405031732|RGD:405031749|RGD:405032055|RGD:405064360|RGD:405072188|RGD:405075550|RGD:405096143	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:28492532
8802316	Dipk1a	divergent protein kinase domain 1A	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:405096143|RGD:405210278|RGD:405235776|RGD:405252026	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:28492532
8802316	Dipk1a	divergent protein kinase domain 1A	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:405210278|RGD:405235776|RGD:405252026|RGD:405873568	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:28492532
8802316	Dipk1a	divergent protein kinase domain 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:1603475	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8802316	Dipk1a	divergent protein kinase domain 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonmedullary thyroid carcinoma 1	
8802328	Cldn11	claudin 11	gene	DOID:0070402	hypomyelinating leukodystrophy 22		ISO	RGD:732844	D	RGD:7240710	20210526	OMIM			
8802328	Cldn11	claudin 11	gene	DOID:0070402	hypomyelinating leukodystrophy 22		ISO	RGD:732844	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 22 | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 22	PMID:25741868|PMID:33313762
8802328	Cldn11	claudin 11	gene	DOID:10534	stomach cancer		ISO	RGD:732844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8802328	Cldn11	claudin 11	gene	DOID:1324	lung cancer		ISO	RGD:732844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8802328	Cldn11	claudin 11	gene	DOID:2377	multiple sclerosis		ISO	RGD:732844	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25911099
8802328	Cldn11	claudin 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8802328	Cldn11	claudin 11	gene	DOID:9006205	Animal Disease Models		ISO	RGD:732844	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25911099
8802328	Cldn11	claudin 11	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:732844	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
8802335	Padi3	peptidyl arginine deiminase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802335	Padi3	peptidyl arginine deiminase 3	gene	DOID:10907	microcephaly		ISO	RGD:732756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:27866708|PMID:36044230|PMID:36541401
8802335	Padi3	peptidyl arginine deiminase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8802335	Padi3	peptidyl arginine deiminase 3	gene	DOID:1909	melanoma		ISO	RGD:732756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8802335	Padi3	peptidyl arginine deiminase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732756	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8802335	Padi3	peptidyl arginine deiminase 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8802335	Padi3	peptidyl arginine deiminase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802335	Padi3	peptidyl arginine deiminase 3	gene	DOID:630	genetic disease		ISO	RGD:732756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27866708|PMID:36044230|PMID:36541401
8802335	Padi3	peptidyl arginine deiminase 3	gene	DOID:9000619	Uncombable Hair Syndrome 1		ISO	RGD:732756	D	RGD:7240710	20220601	OMIM			
8802335	Padi3	peptidyl arginine deiminase 3	gene	DOID:9000619	Uncombable Hair Syndrome 1		ISO	RGD:732756	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PADI3-related condition | ClinVar Annotator: match by term: UNCOMBABLE HAIR SYNDROME 1 | ClinVar Annotator: match by term: Uncombable hair syndrome 1	PMID:25741868|PMID:27866708|PMID:28492532|PMID:35279260|PMID:36044230|PMID:36541401
8802335	Padi3	peptidyl arginine deiminase 3	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:27866708|PMID:36044230|PMID:36541401
8802335	Padi3	peptidyl arginine deiminase 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:27866708|PMID:36044230|PMID:36541401
8802335	Padi3	peptidyl arginine deiminase 3	gene	DOID:9005997	Uncombable Hair Syndrome		ISO	RGD:732756	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uncombable hair syndrome	PMID:25741868|PMID:27866708|PMID:28492532|PMID:35279260|PMID:36044230|PMID:36541401
8802335	Padi3	peptidyl arginine deiminase 3	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:732756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868|PMID:27866708|PMID:36044230|PMID:36541401
8802335	Padi3	peptidyl arginine deiminase 3	gene	DOID:9007442	Central Centrifugal Cicatricial Alopecia		ISO	RGD:732756	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Central centrifugal cicatricial alopecia	PMID:25741868|PMID:30763140
8802335	Padi3	peptidyl arginine deiminase 3	gene	DOID:9007573	Flatfoot		ISO	RGD:732756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:27866708|PMID:36044230|PMID:36541401
8802364	Pnliprp2	pancreatic lipase related protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:733600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8802364	Pnliprp2	pancreatic lipase related protein 2	gene	DOID:1909	melanoma		ISO	RGD:733600	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
8802364	Pnliprp2	pancreatic lipase related protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:733600	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8802364	Pnliprp2	pancreatic lipase related protein 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:733600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8802380	Abi3bp	ABI family member 3 binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8802380	Abi3bp	ABI family member 3 binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802380	Abi3bp	ABI family member 3 binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8802380	Abi3bp	ABI family member 3 binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8802380	Abi3bp	ABI family member 3 binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
8802380	Abi3bp	ABI family member 3 binding protein	gene	DOID:1909	melanoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8802380	Abi3bp	ABI family member 3 binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8802380	Abi3bp	ABI family member 3 binding protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8802380	Abi3bp	ABI family member 3 binding protein	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1349467	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8802380	Abi3bp	ABI family member 3 binding protein	gene	DOID:289	endometriosis		ISO	RGD:1349467	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
8802380	Abi3bp	ABI family member 3 binding protein	gene	DOID:3275	thymoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8802380	Abi3bp	ABI family member 3 binding protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8802380	Abi3bp	ABI family member 3 binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8802380	Abi3bp	ABI family member 3 binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1349467	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8802380	Abi3bp	ABI family member 3 binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802380	Abi3bp	ABI family member 3 binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802380	Abi3bp	ABI family member 3 binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8802460	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:0080245	Galloway-Mowat syndrome 3		ISO	RGD:1318432	D	RGD:7240710	20190315	OMIM			
8802460	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:0080245	Galloway-Mowat syndrome 3		ISO	RGD:1318432	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 3 | ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 | ClinVar Annotator: match by term: OSGEP-related condition	PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:29127259|PMID:30141175|PMID:30558655|PMID:31481669|PMID:31564459|PMID:33333793|PMID:33532864|PMID:34666032|PMID:35709690|PMID:35783322|PMID:36063408|PMID:36587794|PMID:36658419|PMID:36856752|PMID:37229200|PMID:37845138
8802460	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:0080694	Galloway-Mowat syndrome		ISO	RGD:1318432	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:28805828
8802460	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:1115	sarcoma		ISO	RGD:1318432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8802460	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:1324	lung cancer		ISO	RGD:1318432	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8802460	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802460	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:630	genetic disease		ISO	RGD:1318432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:25741868|PMID:28492532|PMID:28805828|PMID:34666032
8802460	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1318432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:30141175
8802460	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:9001581	Constipation		ISO	RGD:1318432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:28492532|PMID:28805828
8802475	Dnal4	dynein axonemal light chain 4	gene	DOID:0070639	mirror movements 3		ISO	RGD:1319248	D	RGD:7240710	20180130	OMIM			
8802475	Dnal4	dynein axonemal light chain 4	gene	DOID:0070639	mirror movements 3		ISO	RGD:1319248	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mirror movements 3	
8802475	Dnal4	dynein axonemal light chain 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8802475	Dnal4	dynein axonemal light chain 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1319248	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8802475	Dnal4	dynein axonemal light chain 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8802492	Msx1	msh homeobox 1	gene	DOID:0050460	Wolf-Hirschhorn syndrome		ISO	RGD:731562	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14630905
8802492	Msx1	msh homeobox 1	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:731562	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27356075
8802492	Msx1	msh homeobox 1	gene	DOID:0050567	orofacial cleft		ISO	RGD:731563	D	RGD:9068941	20220825	MouseDO		OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892	
8802492	Msx1	msh homeobox 1	gene	DOID:0050591	tooth agenesis		ISO	RGD:731562	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oligodontia	
8802492	Msx1	msh homeobox 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802492	Msx1	msh homeobox 1	gene	DOID:0080399	orofacial cleft 5		ISO	RGD:731562	D	RGD:7240710	20180130	OMIM			
8802492	Msx1	msh homeobox 1	gene	DOID:0080399	orofacial cleft 5		ISO	RGD:731562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: OROFACIAL CLEFT 5 | ClinVar Annotator: match by term: Orofacial cleft 5	PMID:12807959|PMID:21448236|PMID:25741868|PMID:28492532
8802492	Msx1	msh homeobox 1	gene	DOID:11383	cryptorchidism		ISO	RGD:620929	D	RGD:9068941	20200609	RGD			PMID:18222913|REF_RGD_ID:5132606
8802492	Msx1	msh homeobox 1	gene	DOID:13714	anodontia		ISO	RGD:731562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Partial congenital absence of teeth	PMID:24914010|PMID:8696335
8802492	Msx1	msh homeobox 1	gene	DOID:2340	craniosynostosis		ISO	RGD:731562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:25741868|PMID:28492532|PMID:31837199
8802492	Msx1	msh homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802492	Msx1	msh homeobox 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8802492	Msx1	msh homeobox 1	gene	DOID:630	genetic disease		ISO	RGD:731562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8802492	Msx1	msh homeobox 1	gene	DOID:6678	tooth and nail syndrome		ISO	RGD:731562	D	RGD:7240710	20180130	OMIM			
8802492	Msx1	msh homeobox 1	gene	DOID:6678	tooth and nail syndrome		ISO	RGD:731562	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar Annotator: match by term: Tooth-and-Nail Syndrome | ClinVar Annotator: match by term: WITKOP SYNDROME	PMID:10742093|PMID:11369996|PMID:12807959|PMID:21448236|PMID:23991204|PMID:25741868|PMID:25874811|PMID:26030286|PMID:27917906|PMID:28492532|PMID:30192788|PMID:33419968|PMID:33725141|PMID:36071541|PMID:36294409|PMID:39408781|PMID:9742121
8802492	Msx1	msh homeobox 1	gene	DOID:674	cleft palate		ISO	RGD:731562	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12163415|PMID:12701100|PMID:15301380
8802492	Msx1	msh homeobox 1	gene	DOID:674	cleft palate		ISO	RGD:731562	D	RGD:9068941	20200609	RGD		DNA:mutations, SNPs:multiple (human)	PMID:12807959|REF_RGD_ID:5132609
8802492	Msx1	msh homeobox 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:731562	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
8802492	Msx1	msh homeobox 1	gene	DOID:9005151	Selective Tooth Agenesis 1		ISO	RGD:731562	D	RGD:7240710	20190315	OMIM			
8802492	Msx1	msh homeobox 1	gene	DOID:9005151	Selective Tooth Agenesis 1		ISO	RGD:731562	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SECOND PREMOLARS AND THIRD MOLARS, ABSENCE OF | ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 1 | ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 1, WITH OR WITHOUT OROFACIAL CLEFT | ClinVar Annotator: match by term: Tooth agenesis, selective, 1	PMID:12807959|PMID:21448236|PMID:25741868|PMID:28492532
8802492	Msx1	msh homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802492	Msx1	msh homeobox 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:731562	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12163415|PMID:14630905|PMID:14654219|PMID:15301380
8802492	Msx1	msh homeobox 1	gene	DOID:9008763	Femoral Fractures		ISO	RGD:620929	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:bone, osteoblast, chondrocyte	PMID:16451220|REF_RGD_ID:5132608
8802492	Msx1	msh homeobox 1	gene	DOID:9009007	Tooth Abnormalities		ISO	RGD:731562	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14630905
8802492	Msx1	msh homeobox 1	gene	DOID:9296	cleft lip		ISO	RGD:731562	D	RGD:9068941	20200609	RGD		DNA:mutations, SNPs:multiple (human)	PMID:12807959|REF_RGD_ID:5132609
8802499	Prr35	proline rich 35	gene	DOID:5041	esophageal cancer		ISO	RGD:1602296	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8802499	Prr35	proline rich 35	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8802510	Arl11	ARF like GTPase 11	gene	DOID:1909	melanoma		ISO	RGD:1317649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8802510	Arl11	ARF like GTPase 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8802510	Arl11	ARF like GTPase 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8802510	Arl11	ARF like GTPase 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8802510	Arl11	ARF like GTPase 11	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317649	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8802510	Arl11	ARF like GTPase 11	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1317649	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17079447
8802521	Ppp2r2a	protein phosphatase 2 regulatory subunit Balpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8802521	Ppp2r2a	protein phosphatase 2 regulatory subunit Balpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802521	Ppp2r2a	protein phosphatase 2 regulatory subunit Balpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8802521	Ppp2r2a	protein phosphatase 2 regulatory subunit Balpha	gene	DOID:1324	lung cancer		ISO	RGD:733714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8802521	Ppp2r2a	protein phosphatase 2 regulatory subunit Balpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8802521	Ppp2r2a	protein phosphatase 2 regulatory subunit Balpha	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8802521	Ppp2r2a	protein phosphatase 2 regulatory subunit Balpha	gene	DOID:5041	esophageal cancer		ISO	RGD:733714	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8802521	Ppp2r2a	protein phosphatase 2 regulatory subunit Balpha	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733714	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
8802521	Ppp2r2a	protein phosphatase 2 regulatory subunit Balpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802521	Ppp2r2a	protein phosphatase 2 regulatory subunit Balpha	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733714	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
8802521	Ppp2r2a	protein phosphatase 2 regulatory subunit Balpha	gene	DOID:9002884	Emphysema		ISO	RGD:733714	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22223484
8802521	Ppp2r2a	protein phosphatase 2 regulatory subunit Balpha	gene	DOID:9003882	Chromosomal Instability		ISO	RGD:733714	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25772433
8802521	Ppp2r2a	protein phosphatase 2 regulatory subunit Balpha	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:733714	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25772433
8802521	Ppp2r2a	protein phosphatase 2 regulatory subunit Balpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802521	Ppp2r2a	protein phosphatase 2 regulatory subunit Balpha	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868
8802521	Ppp2r2a	protein phosphatase 2 regulatory subunit Balpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8802541	Lgmn	legumain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8802541	Lgmn	legumain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802541	Lgmn	legumain	gene	DOID:10534	stomach cancer		ISO	RGD:731860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8802541	Lgmn	legumain	gene	DOID:1115	sarcoma		ISO	RGD:731860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8802541	Lgmn	legumain	gene	DOID:4362	cervical cancer		ISO	RGD:731860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8802541	Lgmn	legumain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8802541	Lgmn	legumain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802541	Lgmn	legumain	gene	DOID:75	lymphatic system disease		ISO	RGD:1552555	D	RGD:9068941	20220825	MouseDO			
8802541	Lgmn	legumain	gene	DOID:9001499	Orthomyxoviridae Infections		ISO	RGD:731860	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22916010
8802541	Lgmn	legumain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731860	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8802541	Lgmn	legumain	gene	DOID:9002189	High Myopia		ISO	RGD:731860	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
8802541	Lgmn	legumain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802541	Lgmn	legumain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8802559	Egfl6	EGF like domain multiple 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8802559	Egfl6	EGF like domain multiple 6	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1354247	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Exstrophy-epispadias complex	PMID:25741868
8802559	Egfl6	EGF like domain multiple 6	gene	DOID:10534	stomach cancer		ISO	RGD:1354247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8802559	Egfl6	EGF like domain multiple 6	gene	DOID:3275	thymoma		ISO	RGD:1354247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8802559	Egfl6	EGF like domain multiple 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802559	Egfl6	EGF like domain multiple 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802581	Cstpp1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802581	Cstpp1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8802581	Cstpp1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8802581	Cstpp1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:1909	melanoma		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8802581	Cstpp1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8802581	Cstpp1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8802581	Cstpp1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8802581	Cstpp1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604290	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8802581	Cstpp1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802581	Cstpp1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8802597	LOC102029370	cytochrome P450 20A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8802597	LOC102029370	cytochrome P450 20A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802597	LOC102029370	cytochrome P450 20A1	gene	DOID:10534	stomach cancer		ISO	RGD:1606532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8802597	LOC102029370	cytochrome P450 20A1	gene	DOID:1324	lung cancer		ISO	RGD:1606532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8802597	LOC102029370	cytochrome P450 20A1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8802597	LOC102029370	cytochrome P450 20A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606532	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8802597	LOC102029370	cytochrome P450 20A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802597	LOC102029370	cytochrome P450 20A1	gene	DOID:6039	uveal melanoma		ISO	RGD:1606532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8802597	LOC102029370	cytochrome P450 20A1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8802597	LOC102029370	cytochrome P450 20A1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8802597	LOC102029370	cytochrome P450 20A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802597	LOC102029370	cytochrome P450 20A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8802619	Tmed3	transmembrane p24 trafficking protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8802619	Tmed3	transmembrane p24 trafficking protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8802619	Tmed3	transmembrane p24 trafficking protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802628	Bpifb4	BPI fold containing family B member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8802628	Bpifb4	BPI fold containing family B member 4	gene	DOID:1115	sarcoma		ISO	RGD:1344811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8802628	Bpifb4	BPI fold containing family B member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1344811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8802628	Bpifb4	BPI fold containing family B member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802628	Bpifb4	BPI fold containing family B member 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1320334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:0060058	lymphoma		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:10534	stomach cancer		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:1059	intellectual disability		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:31999386
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:1059	intellectual disability		ISO	RGD:1320334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:10892	hypospadias		ISO	RGD:1320334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypospadias	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:12849	autistic disorder		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:1596	depressive disorder		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:1682	congenital heart disease		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:1826	epilepsy		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:2034	encephalomalacia		ISO	RGD:1320334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Encephalomalacia	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:2394	ovarian cancer		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:3275	thymoma		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1320334	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:540	strabismus		ISO	RGD:1320334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:630	genetic disease		ISO	RGD:1320334	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:9000053	Headache		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:9001031	Retrognathia		ISO	RGD:1320334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retrognathia	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:9003816	Macrocephaly		ISO	RGD:1320334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320334	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:31999386|PMID:37872713
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320334	D	RGD:8554872	20250527	ClinVar		ClinVar Annotator: match by term: BAZ2B-associated neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental Disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532|PMID:31999386|PMID:37872713
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:9005616	Micrognathism		ISO	RGD:1320334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8802648	Baz2b	bromodomain adjacent to zinc finger domain 2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8802709	Gan	gigaxonin	gene	DOID:0090068	giant axonal neuropathy 1		ISO	RGD:1317147	D	RGD:7240710	20180221	OMIM			
8802709	Gan	gigaxonin	gene	DOID:0090068	giant axonal neuropathy 1		ISO	RGD:1317147	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GIANT AXONAL NEUROPATHY 1 | ClinVar Annotator: match by term: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Giant axonal neuropathy 1	PMID:11062483|PMID:11971098|PMID:12655563|PMID:12668605|PMID:14718689|PMID:15897506|PMID:16199547|PMID:17576681|PMID:17587580|PMID:19231187|PMID:19295179|PMID:20949505|PMID:23248352|PMID:23585478|PMID:23699708|PMID:23890932|PMID:25025039|PMID:25741868|PMID:26392352|PMID:28492532|PMID:29876741|PMID:30246730|PMID:30373780|PMID:30532362|PMID:31655922|PMID:32158379|PMID:32999401|PMID:34114613|PMID:36539320|PMID:37273706|PMID:37648479|PMID:38703036|PMID:9536098
8802709	Gan	gigaxonin	gene	DOID:1059	intellectual disability		ISO	RGD:1317147	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual Disability	PMID:30167849
8802709	Gan	gigaxonin	gene	DOID:1059	intellectual disability		ISO	RGD:1317147	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual Disability	
8802709	Gan	gigaxonin	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1317147	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:24627108|PMID:25025039|PMID:25741868|PMID:28492532
8802709	Gan	gigaxonin	gene	DOID:11720	distal myopathy		ISO	RGD:1317147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:15897506|PMID:25741868|PMID:28492532
8802709	Gan	gigaxonin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8802709	Gan	gigaxonin	gene	DOID:4362	cervical cancer		ISO	RGD:1317147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8802709	Gan	gigaxonin	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1317147	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: marker/mechanism	PMID:19398414
8802709	Gan	gigaxonin	gene	DOID:630	genetic disease		ISO	RGD:1317147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11062483|PMID:12655563|PMID:23248352|PMID:23890932|PMID:25025039|PMID:25741868|PMID:28492532|PMID:32999401|PMID:36539320
8802709	Gan	gigaxonin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8802709	Gan	gigaxonin	gene	DOID:9000462	Giant Axonal Neuropathy		ISO	RGD:1317147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Giant axonal neuropathy	PMID:11053687|PMID:11062483|PMID:12655563|PMID:14718689|PMID:15897506|PMID:16565160|PMID:17331252|PMID:17578852|PMID:17587580|PMID:19295179|PMID:21356581|PMID:23248352|PMID:23316953|PMID:23332420|PMID:23890932|PMID:24464710|PMID:24758703|PMID:25040701|PMID:25741868|PMID:28492532|PMID:30532362|PMID:32158379|PMID:32999401|PMID:37273706|PMID:37712079
8802709	Gan	gigaxonin	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1317147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:17587580|PMID:19295179|PMID:23248352|PMID:25741868|PMID:28492532|PMID:30246730|PMID:31771860
8802709	Gan	gigaxonin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317147	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hypotonia	
8802709	Gan	gigaxonin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8802709	Gan	gigaxonin	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1317147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:15897506|PMID:25741868|PMID:28492532
8802733	Fmnl3	formin like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802733	Fmnl3	formin like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1606996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8802733	Fmnl3	formin like 3	gene	DOID:1115	sarcoma		ISO	RGD:1606996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8802733	Fmnl3	formin like 3	gene	DOID:1909	melanoma		ISO	RGD:1606996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8802733	Fmnl3	formin like 3	gene	DOID:3275	thymoma		ISO	RGD:1606996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8802733	Fmnl3	formin like 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8802733	Fmnl3	formin like 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8802733	Fmnl3	formin like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802733	Fmnl3	formin like 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8802733	Fmnl3	formin like 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8802733	Fmnl3	formin like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802773	Znf215	zinc finger protein 215	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802773	Znf215	zinc finger protein 215	gene	DOID:1115	sarcoma		ISO	RGD:1344334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8802773	Znf215	zinc finger protein 215	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8802796	LOC102006450	cytochrome c oxidase assembly factor 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802796	LOC102006450	cytochrome c oxidase assembly factor 5	gene	DOID:0080357	mitochondrial complex IV deficiency nuclear type 2		ISO	RGD:1604134	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8802796	LOC102006450	cytochrome c oxidase assembly factor 5	gene	DOID:0080359	mitochondrial complex IV deficiency nuclear type 9		ISO	RGD:1604134	D	RGD:7240710	20180130	OMIM			
8802796	LOC102006450	cytochrome c oxidase assembly factor 5	gene	DOID:0080359	mitochondrial complex IV deficiency nuclear type 9		ISO	RGD:1604134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3	
8802828	Habp2	hyaluronan binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802828	Habp2	hyaluronan binding protein 2	gene	DOID:0111907	thrombophilia due to thrombin defect	susceptibility	ISO	RGD:1350340	D	RGD:7240710	20260729	OMIM			
8802828	Habp2	hyaluronan binding protein 2	gene	DOID:2452	thrombophilia		ISO	RGD:1350340	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	
8802828	Habp2	hyaluronan binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:1350340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8802828	Habp2	hyaluronan binding protein 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1302979	D	RGD:9068941	20200609	RGD			PMID:20818495|REF_RGD_ID:11353855
8802828	Habp2	hyaluronan binding protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8802828	Habp2	hyaluronan binding protein 2	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:1302979	D	RGD:9068941	20200609	RGD		associated with Thyroid Neoplasms	PMID:22715430|REF_RGD_ID:11353856
8802828	Habp2	hyaluronan binding protein 2	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1350340	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8802828	Habp2	hyaluronan binding protein 2	gene	DOID:9003505	Venous Thromboembolism		ISO	RGD:1350340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Venous thromboembolism, susceptibility to	PMID:25741868
8802828	Habp2	hyaluronan binding protein 2	gene	DOID:9003505	Venous Thromboembolism	disease_progression	ISO	RGD:1350340	D	RGD:9068941	20200609	RGD		DNA:SNP: :p.G534E (rs7080536) (human)	PMID:22421107|REF_RGD_ID:11353820
8802828	Habp2	hyaluronan binding protein 2	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1350340	D	RGD:9068941	20200609	RGD		DNA:SNP: :p.G534E (rs7080536) (human)	PMID:22421107|REF_RGD_ID:11353820
8802828	Habp2	hyaluronan binding protein 2	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1302979	D	RGD:9068941	20200609	RGD			PMID:22715430|REF_RGD_ID:11353856
8802828	Habp2	hyaluronan binding protein 2	gene	DOID:9007597	Thyroid Cancer, Nonmedullary, 5		ISO	RGD:1350340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HABP2-related condition | ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 5	PMID:25741868
8802828	Habp2	hyaluronan binding protein 2	gene	DOID:9007597	Thyroid Cancer, Nonmedullary, 5	susceptibility	ISO	RGD:1350340	D	RGD:7240710	20260729	OMIM			
8802845	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8802845	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:10534	stomach cancer		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8802845	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8802845	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:1324	lung cancer		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8802845	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:1909	melanoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8802845	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:3275	thymoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8802845	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8802845	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:4362	cervical cancer		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8802845	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8802845	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802845	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8802845	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8802845	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8802845	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:9002801	Recurrence		ISO	RGD:1315462	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35837087
8802845	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8802845	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1315462	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35837087
8802845	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8802845	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802845	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8802845	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:905	Zellweger syndrome		ISO	RGD:1315462	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum	PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792
8802845	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:9256	colorectal cancer		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8802871	Rpl39	ribosomal protein L39	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8802871	Rpl39	ribosomal protein L39	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8802871	Rpl39	ribosomal protein L39	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8802871	Rpl39	ribosomal protein L39	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802871	Rpl39	ribosomal protein L39	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8802879	Mmp15	matrix metallopeptidase 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802879	Mmp15	matrix metallopeptidase 15	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1318995	D	RGD:9068941	20200609	RGD			PMID:15928670|REF_RGD_ID:2290417
8802879	Mmp15	matrix metallopeptidase 15	gene	DOID:1115	sarcoma		ISO	RGD:1318995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8802879	Mmp15	matrix metallopeptidase 15	gene	DOID:1324	lung cancer		ISO	RGD:1318995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8802879	Mmp15	matrix metallopeptidase 15	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1318995	D	RGD:9068941	20200609	RGD			PMID:9751409|REF_RGD_ID:2314950
8802879	Mmp15	matrix metallopeptidase 15	gene	DOID:3275	thymoma		ISO	RGD:1318995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8802879	Mmp15	matrix metallopeptidase 15	gene	DOID:4362	cervical cancer		ISO	RGD:1318995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8802879	Mmp15	matrix metallopeptidase 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802879	Mmp15	matrix metallopeptidase 15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8802879	Mmp15	matrix metallopeptidase 15	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318995	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8802879	Mmp15	matrix metallopeptidase 15	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:1308937	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:19595018|REF_RGD_ID:2314952
8802879	Mmp15	matrix metallopeptidase 15	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1318995	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8802879	Mmp15	matrix metallopeptidase 15	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1318996	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mammary gland	PMID:15895410|REF_RGD_ID:2314949
8802879	Mmp15	matrix metallopeptidase 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802879	Mmp15	matrix metallopeptidase 15	gene	DOID:9008582	Developmental Disease		ISO	RGD:1318995	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8802893	Ppdpf	pancreatic progenitor cell differentiation and proliferation factor	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1321694	D	RGD:9068941	20220825	MouseDO		OMIM:613282 | OMIM:613387	
8802893	Ppdpf	pancreatic progenitor cell differentiation and proliferation factor	gene	DOID:0080600	COVID-19		ISO	RGD:1321693	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:CD8+ T cells (human)	PMID:32377375|REF_RGD_ID:32716422
8802893	Ppdpf	pancreatic progenitor cell differentiation and proliferation factor	gene	DOID:1324	lung cancer		ISO	RGD:1321693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8802893	Ppdpf	pancreatic progenitor cell differentiation and proliferation factor	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1321693	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
8802893	Ppdpf	pancreatic progenitor cell differentiation and proliferation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802893	Ppdpf	pancreatic progenitor cell differentiation and proliferation factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8802893	Ppdpf	pancreatic progenitor cell differentiation and proliferation factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8802901	Lin9	lin-9 DREAM MuvB core complex component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802901	Lin9	lin-9 DREAM MuvB core complex component	gene	DOID:1115	sarcoma		ISO	RGD:1348970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8802901	Lin9	lin-9 DREAM MuvB core complex component	gene	DOID:1909	melanoma		ISO	RGD:1348970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8802901	Lin9	lin-9 DREAM MuvB core complex component	gene	DOID:4362	cervical cancer		ISO	RGD:1348970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8802901	Lin9	lin-9 DREAM MuvB core complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802901	Lin9	lin-9 DREAM MuvB core complex component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8802901	Lin9	lin-9 DREAM MuvB core complex component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8802924	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8802924	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802924	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U like 1	gene	DOID:1324	lung cancer		ISO	RGD:1316659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8802924	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U like 1	gene	DOID:1909	melanoma		ISO	RGD:1316659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8802924	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U like 1	gene	DOID:3275	thymoma		ISO	RGD:1316659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8802924	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8802924	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316659	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8802924	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802924	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8802924	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802924	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8802924	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8802969	Fam210b	family with sequence similarity 210 member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8802969	Fam210b	family with sequence similarity 210 member B	gene	DOID:1909	melanoma		ISO	RGD:1322807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8802969	Fam210b	family with sequence similarity 210 member B	gene	DOID:4362	cervical cancer		ISO	RGD:1322807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8802969	Fam210b	family with sequence similarity 210 member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802969	Fam210b	family with sequence similarity 210 member B	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1322808	D	RGD:9068941	20240808	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
8802981	Gm2a	GM2 ganglioside activator	gene	DOID:1115	sarcoma		ISO	RGD:1353976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8802981	Gm2a	GM2 ganglioside activator	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1353976	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy	PMID:25558065|PMID:25741868|PMID:26203402|PMID:28417072|PMID:28492532|PMID:33456446
8802981	Gm2a	GM2 ganglioside activator	gene	DOID:3320	Tay-Sachs disease		ISO	RGD:1353976	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Tay-Sachs disease	PMID:10364519|PMID:24767253|PMID:28492532|PMID:8900233
8802981	Gm2a	GM2 ganglioside activator	gene	DOID:3321	GM2 gangliosidosis		ISO	RGD:1353976	D	RGD:9068941	20200609	RGD		Tay-Sachs Disease, AB Variant	PMID:10364519|REF_RGD_ID:1598993
8802981	Gm2a	GM2 ganglioside activator	gene	DOID:4795	GM2 gangliosidosis, AB variant		ISO	RGD:1353976	D	RGD:7240710	20180130	OMIM			
8802981	Gm2a	GM2 ganglioside activator	gene	DOID:4795	GM2 gangliosidosis, AB variant		ISO	RGD:1353976	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GM2-GANGLIOSIDOSIS, AB VARIANT | ClinVar Annotator: match by term: Gm2-gangliosidosis, ab variant | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB	PMID:10364519|PMID:17576681|PMID:24767253|PMID:25741868|PMID:26082327|PMID:27402091|PMID:28192816|PMID:28417072|PMID:28492532|PMID:8900233|PMID:9536098
8802981	Gm2a	GM2 ganglioside activator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802981	Gm2a	GM2 ganglioside activator	gene	DOID:630	genetic disease		ISO	RGD:1353976	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8802981	Gm2a	GM2 ganglioside activator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:0050773	paraganglioma		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1323653	D	RGD:9068941	20220825	MouseDO		OMIM:614286	
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532|PMID:29684080
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1323652	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Adenocystic carcinoma	PMID:21642991|PMID:24894717|PMID:26166446|PMID:26452128|PMID:28492532
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adenoid cystic carcinoma	
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:16199547|PMID:21874000|PMID:23684012|PMID:28492532
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:1240	leukemia		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:38969833
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25741868|PMID:26011428|PMID:28492532|PMID:33240524|PMID:35101336|PMID:37556531
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:169	neuroendocrine tumor		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1323652	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:24928783|PMID:25231345|PMID:26463840|PMID:26928227|PMID:29112861
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1323653	D	RGD:9068941	20200609	RGD			PMID:24928783|REF_RGD_ID:9586039
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:1791	peritoneal carcinoma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary peritoneal carcinoma	PMID:25741868
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:1909	melanoma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26719535
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1323652	D	RGD:9068941	20200609	RGD			PMID:25080371|REF_RGD_ID:9586038
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:263	kidney cancer		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: kidney cancer	PMID:21874000|PMID:23684012|PMID:26845104|PMID:28492532
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:2841	asthma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astrocytoma	PMID:25741868|PMID:28560743|PMID:38969833
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:3275	thymoma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:3315	lipoma		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:3369	Ewing sarcoma		ISO	RGD:1323652	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ewing sarcoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:3495	extrahepatic bile duct adenocarcinoma	disease_progression	ISO	RGD:1323652	D	RGD:9068941	20210827	RGD			PMID:25536104|REF_RGD_ID:150340631
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:3565	meningioma		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:3651	pyruvate carboxylase deficiency disease		ISO	RGD:1323652	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Pyruvate carboxylase deficiency	PMID:21874000|PMID:23684012|PMID:25687217|PMID:25741868|PMID:26556299|PMID:26683624|PMID:26719535|PMID:28492532|PMID:28793149|PMID:32002398
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian carcinoma	PMID:25741868
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138691|PMID:22683710|PMID:23797736|PMID:25231345
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney | ClinVar Annotator: match by term: clear cell renal cell carcinoma	PMID:25741868|PMID:28492532|PMID:35483881|PMID:35992853|PMID:38969833|PMID:41015595
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:4531	mucoepidermoid carcinoma		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:4928	intrahepatic cholangiocarcinoma	disease_progression	ISO	RGD:1323652	D	RGD:9068941	20210827	RGD			PMID:27864835|REF_RGD_ID:150340628
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24185509|PMID:25231345
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:5374	pilomatrixoma		ISO	RGD:1323652	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pilomatrixoma	PMID:25741868
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1323652	D	RGD:7240710	20260729	OMIM			
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 2 | ClinVar Annotator: match by term: Uveal melanoma	PMID:21874000|PMID:23684012|PMID:25741868|PMID:26409435|PMID:26467025|PMID:26683624|PMID:27718540|PMID:28034829|PMID:28492532|PMID:28560743|PMID:30306255|PMID:31186267|PMID:33240524|PMID:35101336|PMID:35777164|PMID:35885614|PMID:36513904|PMID:38969833
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:6039	uveal melanoma	disease_progression	ISO	RGD:1323652	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression: :	PMID:25147369|REF_RGD_ID:9586037
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323652	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:7474	malignant pleural mesothelioma	disease_progression	ISO	RGD:1323652	D	RGD:9068941	20210604	RGD			PMID:27422796|REF_RGD_ID:127229946
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:8923	skin melanoma		ISO	RGD:1323652	D	RGD:9068941	20241226	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345|PMID:26719535
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345|PMID:26719535
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24928783
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9001326	Nevus, Epithelioid and Spindle Cell		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9002089	Tumor Predisposition Syndrome 1		ISO	RGD:1323652	D	RGD:7240710	20260729	OMIM			
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9002089	Tumor Predisposition Syndrome 1		ISO	RGD:1323652	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BAP1 tumor predisposition syndrome | ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 | ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations	PMID:1189319|PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:19763152|PMID:20307669|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22406018|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23550303|PMID:23585512|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24187051|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25830670|PMID:25889843|PMID:25929848|PMID:25974357|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:26928227|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27507853|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28170043|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28767674|PMID:28793149|PMID:28873162|PMID:28900502|PMID:29122566|PMID:29212164|PMID:29351919|PMID:29368341|PMID:29478780|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:29978187|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30374176|PMID:30376426|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30639226|PMID:30850667|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31409087|PMID:31447071|PMID:31465090|PMID:31635116|PMID:31721094|PMID:31761620|PMID:31887429|PMID:31895725|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32583627|PMID:32649346|PMID:32782288|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:34426522|PMID:34628055|PMID:34976173|PMID:35032816|PMID:35051358|PMID:35171259|PMID:35360426|PMID:35441217|PMID:35483881|PMID:35534704|PMID:35777164|PMID:35849291|PMID:35885614|PMID:35957908|PMID:35980532|PMID:35988656|PMID:35992853|PMID:36031433|PMID:36451132|PMID:36513904|PMID:36653904|PMID:36863448|PMID:37265265|PMID:38969833|PMID:9536098
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9002089	Tumor Predisposition Syndrome 1		ISO	RGD:1323652	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: BAP1 Cancer Syndrome | ClinVar Annotator: match by term: BAP1 tumor predisposition syndrome | ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 | ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations	PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:19763152|PMID:20307669|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22406018|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23550303|PMID:23585512|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24187051|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25830670|PMID:25889843|PMID:25929848|PMID:25974357|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26416890|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:26928227|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27507853|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28170043|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28767674|PMID:28793149|PMID:28873162|PMID:28900502|PMID:29122566|PMID:29212164|PMID:29351919|PMID:29368341|PMID:29478780|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:29978187|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30374176|PMID:30376426|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30639226|PMID:30850667|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31409087|PMID:31447071|PMID:31465090|PMID:31635116|PMID:31721094|PMID:31761620|PMID:31887429|PMID:31895725|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32583627|PMID:32649346|PMID:32782288|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:34426522|PMID:34628055|PMID:34976173|PMID:35032816|PMID:35051358|PMID:35171259|PMID:35360426|PMID:35441217|PMID:35483881|PMID:35534704|PMID:35700825|PMID:35777164|PMID:35849291|PMID:35885614|PMID:35957908|PMID:35980532|PMID:35988656|PMID:35992853|PMID:36031433|PMID:36451132|PMID:36513904|PMID:36653904|PMID:36863448|PMID:37265265|PMID:38969833|PMID:9536098
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9002089	Tumor Predisposition Syndrome 1		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BAP1 tumor predisposition syndrome | ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 | ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations	PMID:16199547|PMID:21874000|PMID:21874003|PMID:23171164|PMID:23684012|PMID:24243779|PMID:25741868|PMID:25787093|PMID:25974357|PMID:26011428|PMID:26140217|PMID:26452128|PMID:26467025|PMID:26719535|PMID:28062663|PMID:28492532|PMID:28767289|PMID:28793149|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30306255|PMID:30338612|PMID:30477459|PMID:30517737|PMID:30639226|PMID:30980208|PMID:31058963|PMID:31382929|PMID:31635116|PMID:31921681|PMID:32068069|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:35051358|PMID:35101336|PMID:35441217|PMID:35534704|PMID:35885614|PMID:35988656|PMID:36451132|PMID:37265265|PMID:37556531|PMID:38824259|PMID:38833603|PMID:38969833
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26719535
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9002969	Nevus		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus	
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9004207	Testicular Neoplasms		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9004268	Uterine Neoplasms		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9004389	Bone Neoplasms		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532|PMID:28665402|PMID:28935764|PMID:29284740|PMID:35051358|PMID:35101336
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9004799	KURY-ISIDOR SYNDROME		ISO	RGD:1323652	D	RGD:7240710	20260729	OMIM			
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9004799	KURY-ISIDOR SYNDROME		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kury-Isidor syndrome	PMID:21874000|PMID:23684012|PMID:24347639|PMID:25741868|PMID:26409435|PMID:26467025|PMID:26683624|PMID:27718540|PMID:28034829|PMID:28492532|PMID:28560743|PMID:30306255|PMID:33240524|PMID:35051358|PMID:35101336|PMID:35777164|PMID:35885614|PMID:36513904|PMID:38506155|PMID:38969833
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26719535
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9005825	Nevi and Melanomas		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21874003
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9006169	Head and Neck Neoplasms		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9006617	Fatigue		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:25741868|PMID:28492532|PMID:38969833
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323652	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1189319|PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28767674|PMID:28793149|PMID:28873162|PMID:28900502|PMID:29061454|PMID:29122566|PMID:29212164|PMID:29351919|PMID:29368341|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30374176|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30850667|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31465090|PMID:31761620|PMID:31887429|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32583627|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:34426522|PMID:34628055|PMID:35051358|PMID:35171259|PMID:35441217|PMID:35483881|PMID:35777164|PMID:35849291|PMID:35885614|PMID:35992853|PMID:36031433|PMID:36513904|PMID:36653904|PMID:9536098
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323652	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1189319|PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28767674|PMID:28793149|PMID:28873162|PMID:28900502|PMID:29061454|PMID:29122566|PMID:29212164|PMID:29351919|PMID:29368341|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30374176|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30850667|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31465090|PMID:31761620|PMID:31887429|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32583627|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:34426522|PMID:34628055|PMID:35051358|PMID:35114507|PMID:35171259|PMID:35360426|PMID:35441217|PMID:35483881|PMID:35777164|PMID:35849291|PMID:35885614|PMID:35920959|PMID:35992853|PMID:36031433|PMID:36451132|PMID:36513904|PMID:36653904|PMID:37556141|PMID:9536098
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323652	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1189319|PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23585512|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26096145|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:26928227|PMID:27015033|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27507853|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28767674|PMID:28793149|PMID:28873162|PMID:28900502|PMID:29061454|PMID:29122566|PMID:29212164|PMID:29351919|PMID:29368341|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30374176|PMID:30376426|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30639226|PMID:30850667|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31447071|PMID:31465090|PMID:31635116|PMID:31721094|PMID:31761620|PMID:31887429|PMID:31895725|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32583627|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:34426522|PMID:34628055|PMID:34976173|PMID:35051358|PMID:35114507|PMID:35171259|PMID:35360426|PMID:35441217|PMID:35483881|PMID:35777164|PMID:35849291|PMID:35885614|PMID:35920959|PMID:35980532|PMID:35992853|PMID:36031433|PMID:36451132|PMID:36513904|PMID:36653904|PMID:37265265|PMID:37556141|PMID:38969833|PMID:9536098
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323652	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1189319|PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23585512|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24243779|PMID:24705312|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26096145|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:26928227|PMID:27015033|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27507853|PMID:27718540|PMID:27749792|PMID:27854218|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28767674|PMID:28793149|PMID:28873162|PMID:28900502|PMID:29061454|PMID:29122566|PMID:29212164|PMID:29351919|PMID:29368341|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30374176|PMID:30376426|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30639226|PMID:30850667|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31447071|PMID:31465090|PMID:31635116|PMID:31721094|PMID:31761620|PMID:31887429|PMID:31895725|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32509949|PMID:32583627|PMID:32649346|PMID:32782288|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:34426522|PMID:34628055|PMID:34661178|PMID:34976173|PMID:35032816|PMID:35051358|PMID:35114507|PMID:35171259|PMID:35360426|PMID:35441217|PMID:35483881|PMID:35534704|PMID:35700825|PMID:35777164|PMID:35849291|PMID:35885614|PMID:35920959|PMID:35957908|PMID:35980532|PMID:35988656|PMID:35992853|PMID:36031433|PMID:36451132|PMID:36513904|PMID:36653904|PMID:36773602|PMID:36863448|PMID:37265265|PMID:37556141|PMID:38969833|PMID:9536098
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323652	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23585512|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24243779|PMID:24705312|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26096145|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26416890|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:26928227|PMID:27015033|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27507853|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28767674|PMID:28793149|PMID:28873162|PMID:28900502|PMID:29061454|PMID:29122566|PMID:29212164|PMID:29351919|PMID:29368341|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30374176|PMID:30376426|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30639226|PMID:30850667|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31447071|PMID:31465090|PMID:31635116|PMID:31721094|PMID:31761620|PMID:31887429|PMID:31895725|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32509949|PMID:32583627|PMID:32649346|PMID:32782288|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:34426522|PMID:34628055|PMID:34661178|PMID:34976173|PMID:35032816|PMID:35051358|PMID:35114507|PMID:35171259|PMID:35360426|PMID:35441217|PMID:35483881|PMID:35534704|PMID:35700825|PMID:35777164|PMID:35849291|PMID:35885614|PMID:35920959|PMID:35957908|PMID:35980532|PMID:35988656|PMID:35992853|PMID:36031433|PMID:36451132|PMID:36513904|PMID:36653904|PMID:36773602|PMID:36863448|PMID:37265265|PMID:37556141|PMID:38969833|PMID:9536098
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323652	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1058963|PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21642991|PMID:21874000|PMID:21874003|PMID:22545102|PMID:22683710|PMID:22935333|PMID:23171164|PMID:23585512|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24243779|PMID:24705312|PMID:24894717|PMID:25501392|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25974357|PMID:26096145|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26416890|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26719535|PMID:26876698|PMID:26928227|PMID:27015033|PMID:27123562|PMID:27181379|PMID:27507853|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29061454|PMID:29351919|PMID:29368341|PMID:29641532|PMID:29684080|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30113886|PMID:30306255|PMID:30338612|PMID:30376426|PMID:30414346|PMID:30477459|PMID:30517737|PMID:30548481|PMID:30639226|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31635116|PMID:31721094|PMID:31887429|PMID:31895725|PMID:31921681|PMID:32068069|PMID:32325837|PMID:32509949|PMID:32583627|PMID:32649346|PMID:32782288|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:34661178|PMID:34976173|PMID:35032816|PMID:35051358|PMID:35101336|PMID:35114507|PMID:35360426|PMID:35441217|PMID:35534704|PMID:35777164|PMID:35885614|PMID:35920959|PMID:35988656|PMID:36031433|PMID:36451132|PMID:36513904|PMID:36773602|PMID:37265265|PMID:37556141|PMID:37556531|PMID:37956408|PMID:38824259|PMID:38833603|PMID:38969833|PMID:9536098
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9007701	Central Nervous System Neoplasms		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:38969833
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1323652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345|PMID:26719535
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9538	multiple myeloma		ISO	RGD:1323652	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
8802989	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9993	hypoglycemia		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868|PMID:28492532|PMID:38969833
8803011	Kcnk6	potassium two pore domain channel subfamily K member 6	gene	DOID:10534	stomach cancer		ISO	RGD:735903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8803011	Kcnk6	potassium two pore domain channel subfamily K member 6	gene	DOID:1115	sarcoma		ISO	RGD:735903	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8803011	Kcnk6	potassium two pore domain channel subfamily K member 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8803011	Kcnk6	potassium two pore domain channel subfamily K member 6	gene	DOID:3454	brain infarction		ISO	RGD:621450	D	RGD:9068941	20230527	RGD		mRNA:increased expression:brain (rat)	PMID:23251410|REF_RGD_ID:329845556
8803011	Kcnk6	potassium two pore domain channel subfamily K member 6	gene	DOID:4362	cervical cancer		ISO	RGD:735903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8803011	Kcnk6	potassium two pore domain channel subfamily K member 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735903	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8803011	Kcnk6	potassium two pore domain channel subfamily K member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8803018	Arhgap23	Rho GTPase activating protein 23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8803018	Arhgap23	Rho GTPase activating protein 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8803018	Arhgap23	Rho GTPase activating protein 23	gene	DOID:0080600	COVID-19		ISO	RGD:1320244	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8803018	Arhgap23	Rho GTPase activating protein 23	gene	DOID:10534	stomach cancer		ISO	RGD:1320244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8803018	Arhgap23	Rho GTPase activating protein 23	gene	DOID:1115	sarcoma		ISO	RGD:1320244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8803018	Arhgap23	Rho GTPase activating protein 23	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1320244	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8803018	Arhgap23	Rho GTPase activating protein 23	gene	DOID:3275	thymoma		ISO	RGD:1320244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8803018	Arhgap23	Rho GTPase activating protein 23	gene	DOID:4362	cervical cancer		ISO	RGD:1320244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8803018	Arhgap23	Rho GTPase activating protein 23	gene	DOID:5041	esophageal cancer		ISO	RGD:1320244	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8803018	Arhgap23	Rho GTPase activating protein 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803018	Arhgap23	Rho GTPase activating protein 23	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8803018	Arhgap23	Rho GTPase activating protein 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8803018	Arhgap23	Rho GTPase activating protein 23	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8803046	Phox2a	paired like homeobox 2A	gene	DOID:0081016	congenital fibrosis of the extraocular muscles 2		ISO	RGD:733682	D	RGD:7240710	20180130	OMIM			
8803046	Phox2a	paired like homeobox 2A	gene	DOID:0081016	congenital fibrosis of the extraocular muscles 2		ISO	RGD:733682	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2	PMID:25741868
8803046	Phox2a	paired like homeobox 2A	gene	DOID:630	genetic disease		ISO	RGD:733682	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8803046	Phox2a	paired like homeobox 2A	gene	DOID:9000784	Fibrosis		ISO	RGD:733682	D	RGD:9068941	20200609	RGD			PMID:11600883|REF_RGD_ID:1599902
8803046	Phox2a	paired like homeobox 2A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:733683	D	RGD:9068941	20220825	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:0070390	developmental and epileptic encephalopathy 104		ISO	RGD:1605737	D	RGD:7240710	20220810	OMIM			
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:0070390	developmental and epileptic encephalopathy 104		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 104 | ClinVar Annotator: match by term: developmental and epileptic encephalopathy 104	PMID:21832060|PMID:25741868|PMID:32001091|PMID:33833240|PMID:34909687
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:10283	prostate cancer		ISO	RGD:1605737	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:10283	prostate cancer		ISO	RGD:1605737	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:10485	esophageal atresia		ISO	RGD:1605737	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:10534	stomach cancer		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:1115	sarcoma		ISO	RGD:1605737	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:1324	lung cancer		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:3275	thymoma		ISO	RGD:1605737	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:4362	cervical cancer		ISO	RGD:1605737	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605737	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:630	genetic disease		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:9008621	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY		ISO	RGD:1605737	D	RGD:7240710	20221214	OMIM			
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:9008621	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY		ISO	RGD:1605737	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY | ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and brain atrophy	PMID:25741868|PMID:33833240|PMID:34909687
8803053	Atp6v0a1	ATPase H+ transporting V0 subunit a1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8803107	Cd48	CD48 molecule	gene	DOID:1909	melanoma		ISO	RGD:1352782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8803107	Cd48	CD48 molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1352782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8803107	Cd48	CD48 molecule	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8803107	Cd48	CD48 molecule	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1352782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8803121	Gpaa1	glycosylphosphatidylinositol anchor attachment 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8803121	Gpaa1	glycosylphosphatidylinositol anchor attachment 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8803121	Gpaa1	glycosylphosphatidylinositol anchor attachment 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353728	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8803121	Gpaa1	glycosylphosphatidylinositol anchor attachment 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8803121	Gpaa1	glycosylphosphatidylinositol anchor attachment 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803121	Gpaa1	glycosylphosphatidylinositol anchor attachment 1	gene	DOID:630	genetic disease		ISO	RGD:1353728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8803121	Gpaa1	glycosylphosphatidylinositol anchor attachment 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8803121	Gpaa1	glycosylphosphatidylinositol anchor attachment 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8803121	Gpaa1	glycosylphosphatidylinositol anchor attachment 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8803121	Gpaa1	glycosylphosphatidylinositol anchor attachment 1	gene	DOID:9009067	Glycosylphosphatidylinositol Biosynthesis Defect 15		ISO	RGD:1353728	D	RGD:7240710	20190315	OMIM			
8803121	Gpaa1	glycosylphosphatidylinositol anchor attachment 1	gene	DOID:9009067	Glycosylphosphatidylinositol Biosynthesis Defect 15		ISO	RGD:1353728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | ClinVar Annotator: match by term: GPAA1-related condition | ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 15	PMID:25741868|PMID:28492532|PMID:29100095|PMID:32637629|PMID:34703884
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:68964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:0061165	proximal renal tubular acidosis		ISO	RGD:1332483	D	RGD:9068941	20260528	MouseDO		OMIM:179830	
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:0061167	autosomal recessive proximal renal tubular acidosis		ISO	RGD:68964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive proximal renal tubular acidosis	PMID:18658147|PMID:20197274|PMID:23362273|PMID:25741868|PMID:28492532|PMID:35132093|PMID:40794449
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:0061195	proximal renal tubular acidosis-ocular anomaly syndrome		ISO	RGD:68964	D	RGD:7240710	20180130	OMIM			
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:0061195	proximal renal tubular acidosis-ocular anomaly syndrome		ISO	RGD:68964	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PROXIMAL RENAL TUBULAR ACIDOSIS-OCULAR ANOMALY SYNDROME | ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION | ClinVar Annotator: match by term: SLC4A4-related condition	PMID:15471865|PMID:15713912|PMID:23362273|PMID:25741868|PMID:28492532
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:0080600	COVID-19		ISO	RGD:68964	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:10534	stomach cancer		ISO	RGD:68964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:10763	hypertension		ISO	RGD:68936	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney cortex	PMID:15340004|REF_RGD_ID:1600028
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:12387	nephrogenic diabetes insipidus		ISO	RGD:68936	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney cortex	PMID:12944321|REF_RGD_ID:1600034
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:1324	lung cancer		ISO	RGD:68964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:14219	renal tubular acidosis		ISO	RGD:1332483	D	RGD:9068941	20220825	MouseDO		OMIM:179830 | OMIM:267200 | OMIM:602722	
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:14219	renal tubular acidosis		ISO	RGD:68964	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18614622
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:14219	renal tubular acidosis	susceptibility	ISO	RGD:68964	D	RGD:9068941	20200609	RGD		DNA:point mutations: ; 1043A>C, 1678G>A	PMID:10545938|REF_RGD_ID:61794
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:1686	glaucoma		ISO	RGD:68964	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18614622
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:1909	melanoma		ISO	RGD:68964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:3070	high grade glioma		ISO	RGD:68964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:68964	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:4362	cervical cancer		ISO	RGD:68964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:68964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:68964	D	RGD:9068941	20220714	RGD		mRNA:altered expression:liver (human)	PMID:31687280|REF_RGD_ID:152998978
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:630	genetic disease		ISO	RGD:68964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:83	cataract		ISO	RGD:68964	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18614622
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:68964	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:9006205	Animal Disease Models		ISO	RGD:68964	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:68964	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18614622
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:9008606	Corneal Opacity		ISO	RGD:68964	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18614622
8803140	Slc4a4	solute carrier family 4 member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8803177	Ccdc32	coiled-coil domain containing 32	gene	DOID:1909	melanoma		ISO	RGD:1605016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8803177	Ccdc32	coiled-coil domain containing 32	gene	DOID:3070	high grade glioma		ISO	RGD:1605016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8803177	Ccdc32	coiled-coil domain containing 32	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8803177	Ccdc32	coiled-coil domain containing 32	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8803177	Ccdc32	coiled-coil domain containing 32	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8803177	Ccdc32	coiled-coil domain containing 32	gene	DOID:9007327	Cardiofacioneurodevelopmental Syndrome		ISO	RGD:1605016	D	RGD:7240710	20201230	OMIM			
8803177	Ccdc32	coiled-coil domain containing 32	gene	DOID:9007327	Cardiofacioneurodevelopmental Syndrome		ISO	RGD:1605016	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARDIOFACIONEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome	PMID:25741868
8803216	Plcxd1	phosphatidylinositol specific phospholipase C X domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8803216	Plcxd1	phosphatidylinositol specific phospholipase C X domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8803216	Plcxd1	phosphatidylinositol specific phospholipase C X domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8803216	Plcxd1	phosphatidylinositol specific phospholipase C X domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8803216	Plcxd1	phosphatidylinositol specific phospholipase C X domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8803216	Plcxd1	phosphatidylinositol specific phospholipase C X domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8803216	Plcxd1	phosphatidylinositol specific phospholipase C X domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803216	Plcxd1	phosphatidylinositol specific phospholipase C X domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8803216	Plcxd1	phosphatidylinositol specific phospholipase C X domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8803216	Plcxd1	phosphatidylinositol specific phospholipase C X domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8803216	Plcxd1	phosphatidylinositol specific phospholipase C X domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8803216	Plcxd1	phosphatidylinositol specific phospholipase C X domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8803226	Rtbdn	retbindin	gene	DOID:10534	stomach cancer		ISO	RGD:1606213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8803226	Rtbdn	retbindin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803226	Rtbdn	retbindin	gene	DOID:9005834	Ependymomas		ISO	RGD:1606213	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075792
8803236	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8803236	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8803236	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:10534	stomach cancer		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8803236	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8803236	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:1115	sarcoma		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8803236	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:1909	melanoma		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8803236	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:3275	thymoma		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8803236	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8803236	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8803236	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:4362	cervical cancer		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8803236	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8803236	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:5041	esophageal cancer		ISO	RGD:1343086	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8803236	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803236	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8803236	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:630	genetic disease		ISO	RGD:1343086	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8803236	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8803236	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:9003687	Multisystem Autoimmune Disease with Facial Dysmorphism		ISO	RGD:1343086	D	RGD:7240710	20180130	OMIM			
8803236	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:9003687	Multisystem Autoimmune Disease with Facial Dysmorphism		ISO	RGD:1343086	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM | ClinVar Annotator: match by term: ITCH-related condition	PMID:20170897|PMID:25741868|PMID:28492532
8803236	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8803236	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8803236	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8803236	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:9256	colorectal cancer		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8803265	Ssb	small RNA binding exonuclease protection factor La	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8803265	Ssb	small RNA binding exonuclease protection factor La	gene	DOID:0080600	COVID-19		ISO	RGD:1348902	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8803265	Ssb	small RNA binding exonuclease protection factor La	gene	DOID:1115	sarcoma		ISO	RGD:1348902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8803265	Ssb	small RNA binding exonuclease protection factor La	gene	DOID:1324	lung cancer		ISO	RGD:1348902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8803265	Ssb	small RNA binding exonuclease protection factor La	gene	DOID:1909	melanoma		ISO	RGD:1348902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8803265	Ssb	small RNA binding exonuclease protection factor La	gene	DOID:4362	cervical cancer		ISO	RGD:1348902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8803265	Ssb	small RNA binding exonuclease protection factor La	gene	DOID:5041	esophageal cancer		ISO	RGD:1348902	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8803265	Ssb	small RNA binding exonuclease protection factor La	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803265	Ssb	small RNA binding exonuclease protection factor La	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1348902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8803265	Ssb	small RNA binding exonuclease protection factor La	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8803265	Ssb	small RNA binding exonuclease protection factor La	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8803265	Ssb	small RNA binding exonuclease protection factor La	gene	DOID:9256	colorectal cancer		ISO	RGD:1348902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8803293	Adcy3	adenylate cyclase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8803293	Adcy3	adenylate cyclase 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:71009	D	RGD:9068941	20240926	RGD		associated with Liver Cirrhosis;mRNA:decreased expression:cardiac myocyte:	PMID:19003918|REF_RGD_ID:10449440
8803293	Adcy3	adenylate cyclase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8803293	Adcy3	adenylate cyclase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8803293	Adcy3	adenylate cyclase 3	gene	DOID:1115	sarcoma		ISO	RGD:732499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8803293	Adcy3	adenylate cyclase 3	gene	DOID:11713	diabetic angiopathy		ISO	RGD:732499	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25381014
8803293	Adcy3	adenylate cyclase 3	gene	DOID:11981	morbid obesity		ISO	RGD:732499	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29311637
8803293	Adcy3	adenylate cyclase 3	gene	DOID:1324	lung cancer		ISO	RGD:732499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8803293	Adcy3	adenylate cyclase 3	gene	DOID:1470	major depressive disorder		ISO	RGD:732499	D	RGD:9068941	20260305	RGD		DNA:SNP:intron:rs2384061	PMID:21042317|REF_RGD_ID:11251504
8803293	Adcy3	adenylate cyclase 3	gene	DOID:1470	major depressive disorder		ISO	RGD:732499	D	RGD:9068941	20260305	RGD		mRNA:decreased expression:blood	PMID:25226551|REF_RGD_ID:634888054
8803293	Adcy3	adenylate cyclase 3	gene	DOID:1470	major depressive disorder		ISO	RGD:732500	D	RGD:9068941	20220825	MouseDO		OMIM:608520 | OMIM:608691	
8803293	Adcy3	adenylate cyclase 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8803293	Adcy3	adenylate cyclase 3	gene	DOID:4362	cervical cancer		ISO	RGD:732499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8803293	Adcy3	adenylate cyclase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8803293	Adcy3	adenylate cyclase 3	gene	DOID:4989	pancreatitis		ISO	RGD:732499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent pancreatitis	PMID:25741868
8803293	Adcy3	adenylate cyclase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8803293	Adcy3	adenylate cyclase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803293	Adcy3	adenylate cyclase 3	gene	DOID:630	genetic disease		ISO	RGD:732499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8803293	Adcy3	adenylate cyclase 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:732499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8803293	Adcy3	adenylate cyclase 3	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:71009	D	RGD:9068941	20240919	RGD			PMID:24970286|REF_RGD_ID:407550181
8803293	Adcy3	adenylate cyclase 3	gene	DOID:9002569	Overweight		ISO	RGD:732499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:25741868
8803293	Adcy3	adenylate cyclase 3	gene	DOID:9002916	Hyperphagia		ISO	RGD:732499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	PMID:25741868
8803293	Adcy3	adenylate cyclase 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8803293	Adcy3	adenylate cyclase 3	gene	DOID:9004099	Bulimia		ISO	RGD:732499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bulimia	PMID:25741868
8803293	Adcy3	adenylate cyclase 3	gene	DOID:9004581	Pediatric Obesity		ISO	RGD:732499	D	RGD:9068941	20260312	RGD		DNA:missense mutation: :rs11676272	PMID:25953783|REF_RGD_ID:11055817
8803293	Adcy3	adenylate cyclase 3	gene	DOID:9004581	Pediatric Obesity		ISO	RGD:732499	D	RGD:9068941	20260312	RGD		mRNA:altered expression:multiple	PMID:33627773|REF_RGD_ID:640476585
8803293	Adcy3	adenylate cyclase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8803293	Adcy3	adenylate cyclase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8803293	Adcy3	adenylate cyclase 3	gene	DOID:9351	diabetes mellitus	treatment	ISO	RGD:71009	D	RGD:9068941	20240919	RGD			PMID:23018249|REF_RGD_ID:407550180
8803293	Adcy3	adenylate cyclase 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732499	D	RGD:9068941	20260312	RGD		DNA:missense mutation:exon 14:c.2433-1G>A	PMID:29311636|REF_RGD_ID:640476581
8803293	Adcy3	adenylate cyclase 3	gene	DOID:9970	obesity		ISO	RGD:732499	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: ADCY3-related condition | ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity due to melanocortin 4 receptor deficiency	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8803293	Adcy3	adenylate cyclase 3	gene	DOID:9970	obesity		ISO	RGD:732499	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: ADCY3-related condition | ClinVar Annotator: match by term: Monogenic Obesity	PMID:25741868|PMID:28492532
8803293	Adcy3	adenylate cyclase 3	gene	DOID:9970	obesity		ISO	RGD:732499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ADCY3-related condition | ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532|PMID:35753512
8803293	Adcy3	adenylate cyclase 3	gene	DOID:9970	obesity	onset	ISO	RGD:732499	D	RGD:9068941	20260312	RGD		DNA:SNP: :rs753529	PMID:21079816|REF_RGD_ID:640476573
8803293	Adcy3	adenylate cyclase 3	gene	DOID:9970	obesity	treatment	ISO	RGD:732499	D	RGD:9068941	20260312	RGD		DNA:SNP: :rs10182181	PMID:29921800|REF_RGD_ID:640476579
8803293	Adcy3	adenylate cyclase 3	gene	DOID:9970	obesity	treatment	ISO	RGD:732500	D	RGD:9068941	20240919	RGD			PMID:30568259|REF_RGD_ID:407550184
8803293	Adcy3	adenylate cyclase 3	gene	DOID:9974	drug dependence		ISO	RGD:732499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drug dependence	PMID:25741868
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:0060249	scoliosis		ISO	RGD:735355	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532|PMID:31036916|PMID:31785789
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:0080471	developmental and epileptic encephalopathy 92		ISO	RGD:735355	D	RGD:7240710	20190315	OMIM			
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:0080471	developmental and epileptic encephalopathy 92		ISO	RGD:735355	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 92 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood, 2	PMID:25741868|PMID:26633542|PMID:28492532|PMID:29100083|PMID:30033060|PMID:31036916|PMID:31785789|PMID:32686847|PMID:33325057|PMID:34489640|PMID:35605087
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:10283	prostate cancer		ISO	RGD:735355	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:25741868|PMID:28492532
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:10376	amblyopia		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:10534	stomach cancer		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1059	intellectual disability		ISO	RGD:735355	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities	PMID:12140781|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31036916|PMID:31785789|PMID:9536098
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1059	intellectual disability		ISO	RGD:735355	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:12140781|PMID:17576681|PMID:23265383|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:30033060|PMID:31036916|PMID:31785789|PMID:32533790|PMID:33325057|PMID:9536098
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1059	intellectual disability		ISO	RGD:735355	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:12140781|PMID:17576681|PMID:23265383|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:29758562|PMID:30033060|PMID:31036916|PMID:31785789|PMID:32533790|PMID:33325057|PMID:9536098
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1059	intellectual disability		ISO	RGD:735355	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:12140781|PMID:17576681|PMID:23265383|PMID:25124326|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:29758562|PMID:30033060|PMID:31036916|PMID:31785789|PMID:32533790|PMID:32686847|PMID:33325057|PMID:9536098
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1059	intellectual disability		ISO	RGD:735355	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities	PMID:12140781|PMID:17576681|PMID:23265383|PMID:25124326|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:29758562|PMID:30033060|PMID:30851244|PMID:31036916|PMID:31785789|PMID:32533790|PMID:32686847|PMID:33325057|PMID:35355020|PMID:9536098
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1059	intellectual disability		ISO	RGD:735355	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Severe intellectual deficiency	PMID:12140781|PMID:17576681|PMID:23265383|PMID:25124326|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:29758562|PMID:30033060|PMID:30851244|PMID:31036916|PMID:31785789|PMID:32533790|PMID:32686847|PMID:32725632|PMID:33325057|PMID:35355020|PMID:9536098
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1059	intellectual disability		ISO	RGD:735355	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:12140781|PMID:16199547|PMID:17576681|PMID:25124326|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:29758562|PMID:30033060|PMID:30552426|PMID:30851244|PMID:31036916|PMID:31269553|PMID:31785789|PMID:32533790|PMID:32686847|PMID:32725632|PMID:33325057|PMID:35355020|PMID:9536098
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1059	intellectual disability		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:16199547|PMID:17576681|PMID:25124326|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:29758562|PMID:30033060|PMID:30552426|PMID:30851244|PMID:31036916|PMID:31269553|PMID:31785789|PMID:32533790|PMID:32686847|PMID:32725632|PMID:33325057|PMID:35355020|PMID:9536098
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:10907	microcephaly		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:11111	hydronephrosis		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1115	sarcoma		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:11836	clubfoot		ISO	RGD:735355	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:28492532|PMID:31036916|PMID:31785789
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:12849	autistic disorder		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1824	status epilepticus		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:25741868
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1826	epilepsy		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:27622563|PMID:28492532|PMID:29100083|PMID:30033060|PMID:31036916|PMID:31785789|PMID:32533790|PMID:33325057
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1909	melanoma		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:2030	anxiety disorder		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:2234	focal epilepsy		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:28492532|PMID:31036916|PMID:31785789
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:3275	thymoma		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:4362	cervical cancer		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:480	movement disease		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:540	strabismus		ISO	RGD:735355	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532|PMID:31036916|PMID:31785789
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:5419	schizophrenia		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:25741868|PMID:28492532|PMID:29100083|PMID:30033060
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:543	dystonia		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:630	genetic disease		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:29100083|PMID:31785789|PMID:32725632
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9000343	Vision Disorders		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:735355	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29942082
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9004866	Ataxia		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Truncal ataxia	PMID:25741868
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9005077	Joint Instability		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9005335	Cerebral Visual Impairment and Intellectual Disability		ISO	RGD:735355	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability	PMID:26350515
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9005367	Arachnodactyly		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:25741868
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:25741868
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay | ClinVar Annotator: match by term: global developmental delay	PMID:25741868|PMID:28492532|PMID:31036916|PMID:31785789
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9008268	Enuresis		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enuresis	PMID:25741868
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:936	brain disease		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9840	esotropia		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868
8803324	Gabrb2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9970	obesity		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532|PMID:29100083|PMID:30033060
8803342	Il5	interleukin 5	gene	DOID:0050256	angiostrongyliasis		ISO	RGD:10799	D	RGD:9068941	20200609	RGD			PMID:8361777|REF_RGD_ID:11354948
8803342	Il5	interleukin 5	gene	DOID:0050523	adult T-cell leukemia/lymphoma	disease_progression	ISO	RGD:730927	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16425276|REF_RGD_ID:11354942
8803342	Il5	interleukin 5	gene	DOID:0050589	inflammatory bowel disease	susceptibility	ISO	RGD:10799	D	RGD:9068941	20200609	RGD			PMID:22018693|REF_RGD_ID:5687148
8803342	Il5	interleukin 5	gene	DOID:0060180	colitis		ISO	RGD:10799	D	RGD:9068941	20200609	RGD		protein: increased expression	PMID:22018693|REF_RGD_ID:5687148
8803342	Il5	interleukin 5	gene	DOID:0080599	Coronavirus infectious disease		ISO	RGD:10799	D	RGD:9068941	20200618	RGD			PMID:19906920|REF_RGD_ID:4891446
8803342	Il5	interleukin 5	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:10799	D	RGD:9068941	20200609	RGD			PMID:15368290|REF_RGD_ID:7241068
8803342	Il5	interleukin 5	gene	DOID:1040	chronic lymphocytic leukemia		ISO	RGD:730927	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21911837|REF_RGD_ID:11354912
8803342	Il5	interleukin 5	gene	DOID:10534	stomach cancer	susceptibility	ISO	RGD:730927	D	RGD:9068941	20220204	RGD		DNA:SNP::745 C>T (rs2069812)(human)	PMID:18687755|REF_RGD_ID:151347690
8803342	Il5	interleukin 5	gene	DOID:10923	sickle cell anemia		ISO	RGD:10799	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:25843670|REF_RGD_ID:11354938
8803342	Il5	interleukin 5	gene	DOID:10955	strongyloidiasis	severity	ISO	RGD:10799	D	RGD:9068941	20200609	RGD			PMID:9824515|REF_RGD_ID:11354934
8803342	Il5	interleukin 5	gene	DOID:11123	IgA vasculitis		ISO	RGD:730927	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16787590|REF_RGD_ID:11354946
8803342	Il5	interleukin 5	gene	DOID:11132	prostatic hypertrophy	treatment	ISO	RGD:2900	D	RGD:9068941	20200609	RGD			PMID:20945403|REF_RGD_ID:5684375
8803342	Il5	interleukin 5	gene	DOID:1184	nephrotic syndrome		ISO	RGD:730927	D	RGD:9068941	20200609	RGD			PMID:22665336|REF_RGD_ID:7240715
8803342	Il5	interleukin 5	gene	DOID:1273	respiratory syncytial virus infectious disease	severity	ISO	RGD:10799	D	RGD:9068941	20200609	RGD			PMID:25410867|REF_RGD_ID:11354937
8803342	Il5	interleukin 5	gene	DOID:12849	autistic disorder		ISO	RGD:730927	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16360218
8803342	Il5	interleukin 5	gene	DOID:13891	bird fancier's lung		ISO	RGD:10799	D	RGD:9068941	20260207	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:31830693|REF_RGD_ID:632518366
8803342	Il5	interleukin 5	gene	DOID:13922	eosinophilic esophagitis		ISO	RGD:10799	D	RGD:9068941	20200609	RGD			PMID:23161496|REF_RGD_ID:11354947
8803342	Il5	interleukin 5	gene	DOID:1394	urinary schistosomiasis	resistance	ISO	RGD:730927	D	RGD:9068941	20200609	RGD			PMID:9697734|REF_RGD_ID:7241010
8803342	Il5	interleukin 5	gene	DOID:13976	peptic esophagitis		ISO	RGD:2900	D	RGD:9068941	20200609	RGD		associated with asthma; mRNA:increased expression:esophagus	PMID:18222984|REF_RGD_ID:2307110
8803342	Il5	interleukin 5	gene	DOID:1470	major depressive disorder		ISO	RGD:730927	D	RGD:9068941	20200609	RGD		protein: increased expression: serum	PMID:22230487|REF_RGD_ID:5687135
8803342	Il5	interleukin 5	gene	DOID:1496	echinococcosis		ISO	RGD:10799	D	RGD:9068941	20200609	RGD		mRNA: increased expression: : peritoneal lavage cells	PMID:21912714|REF_RGD_ID:5687176
8803342	Il5	interleukin 5	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:730927	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21227906
8803342	Il5	interleukin 5	gene	DOID:2841	asthma		ISO	RGD:10799	D	RGD:9068941	20200609	RGD			PMID:11159041|PMID:9182686|REF_RGD_ID:4890963|REF_RGD_ID:5687189
8803342	Il5	interleukin 5	gene	DOID:2841	asthma		ISO	RGD:10799	D	RGD:9068941	20200609	RGD		protein:increased expression:lungs, respiratory system fluid/secretion	PMID:22085848|REF_RGD_ID:5687144
8803342	Il5	interleukin 5	gene	DOID:2841	asthma		ISO	RGD:10799	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:15626484|REF_RGD_ID:4890947
8803342	Il5	interleukin 5	gene	DOID:2841	asthma		ISO	RGD:2900	D	RGD:9068941	20260409	RGD			PMID:17074272|REF_RGD_ID:4145461
8803342	Il5	interleukin 5	gene	DOID:2841	asthma		ISO	RGD:730927	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23266719|PMID:7540862
8803342	Il5	interleukin 5	gene	DOID:2841	asthma		ISO	RGD:730927	D	RGD:9068941	20200609	RGD			PMID:15502111|REF_RGD_ID:4890948
8803342	Il5	interleukin 5	gene	DOID:2841	asthma		ISO	RGD:730927	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-703C>T (human)	PMID:18629290|REF_RGD_ID:4890940
8803342	Il5	interleukin 5	gene	DOID:2841	asthma		ISO	RGD:730927	D	RGD:9068941	20200609	RGD		protein: increased levels: sputum	PMID:22186238|REF_RGD_ID:5687140
8803342	Il5	interleukin 5	gene	DOID:2841	asthma	disease_progression	ISO	RGD:730927	D	RGD:9068941	20200609	RGD			PMID:9493449|REF_RGD_ID:4890962
8803342	Il5	interleukin 5	gene	DOID:2841	asthma	treatment	ISO	RGD:2900	D	RGD:9068941	20200609	RGD			PMID:25008888|REF_RGD_ID:11354973
8803342	Il5	interleukin 5	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:730927	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15347381
8803342	Il5	interleukin 5	gene	DOID:3044	food allergy		ISO	RGD:730927	D	RGD:9068941	20200609	RGD			PMID:22077487|REF_RGD_ID:5687145
8803342	Il5	interleukin 5	gene	DOID:3049	Churg-Strauss syndrome	severity	ISO	RGD:730927	D	RGD:9068941	20200609	RGD			PMID:22772323|REF_RGD_ID:6892720
8803342	Il5	interleukin 5	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:730927	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20858153|REF_RGD_ID:4890939
8803342	Il5	interleukin 5	gene	DOID:3310	atopic dermatitis		ISO	RGD:730927	D	RGD:9068941	20200609	RGD		mRNA: increased expression: skin	PMID:22299064|REF_RGD_ID:5687175
8803342	Il5	interleukin 5	gene	DOID:3310	atopic dermatitis		ISO	RGD:730927	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:11886533|PMID:18249437|PMID:33274957
8803342	Il5	interleukin 5	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:2900	D	RGD:9068941	20200609	RGD			PMID:23028794|REF_RGD_ID:7204480
8803342	Il5	interleukin 5	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:10799	D	RGD:9068941	20200609	RGD			PMID:14975941|REF_RGD_ID:4890954
8803342	Il5	interleukin 5	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:10799	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:17986108|REF_RGD_ID:4890942
8803342	Il5	interleukin 5	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:730927	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17620002
8803342	Il5	interleukin 5	gene	DOID:4031	eosinophilic gastroenteritis		ISO	RGD:730927	D	RGD:9068941	20200609	RGD		protein:increased expression:intestine, eosinophil	PMID:8608886|REF_RGD_ID:11354940
8803342	Il5	interleukin 5	gene	DOID:4481	allergic rhinitis	treatment	ISO	RGD:2900	D	RGD:9068941	20200609	RGD			PMID:23934070|PMID:24620662|REF_RGD_ID:11354976|REF_RGD_ID:11522769
8803342	Il5	interleukin 5	gene	DOID:4483	rhinitis		ISO	RGD:10799	D	RGD:9068941	20200609	RGD			PMID:11884474|REF_RGD_ID:5128622
8803342	Il5	interleukin 5	gene	DOID:5041	esophageal cancer	treatment	ISO	RGD:2900	D	RGD:9068941	20200609	RGD			PMID:20232121|REF_RGD_ID:5134997
8803342	Il5	interleukin 5	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:730927	D	RGD:9068941	20200609	RGD			PMID:22293286|REF_RGD_ID:5687156
8803342	Il5	interleukin 5	gene	DOID:8398	osteoarthritis		ISO	RGD:730927	D	RGD:9068941	20200609	RGD			PMID:22035391|REF_RGD_ID:5687147
8803342	Il5	interleukin 5	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:10799	D	RGD:9068941	20200609	RGD		protein:increased expression:lung,respiratory system fluid/secretion	PMID:19151189|REF_RGD_ID:4889106
8803342	Il5	interleukin 5	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:10799	D	RGD:9068941	20200609	RGD			PMID:9712797|REF_RGD_ID:4890961
8803342	Il5	interleukin 5	gene	DOID:9000772	Bronchial Hyperreactivity	treatment	ISO	RGD:10799	D	RGD:9068941	20200609	RGD			PMID:10471622|REF_RGD_ID:11354935
8803342	Il5	interleukin 5	gene	DOID:9000998	Brain Injuries		ISO	RGD:2900	D	RGD:9068941	20200609	RGD			PMID:24602693|REF_RGD_ID:11522766
8803342	Il5	interleukin 5	gene	DOID:9000998	Brain Injuries	treatment	ISO	RGD:2900	D	RGD:9068941	20200609	RGD			PMID:24530657|REF_RGD_ID:11522770
8803342	Il5	interleukin 5	gene	DOID:9001371	Eosinophilia		ISO	RGD:10799	D	RGD:9068941	20200609	RGD			PMID:1988543|REF_RGD_ID:11354921
8803342	Il5	interleukin 5	gene	DOID:9001371	Eosinophilia		ISO	RGD:2900	D	RGD:9068941	20200609	RGD			PMID:11884473|REF_RGD_ID:625643
8803342	Il5	interleukin 5	gene	DOID:9001371	Eosinophilia		ISO	RGD:730927	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11006010|PMID:1988543
8803342	Il5	interleukin 5	gene	DOID:9001371	Eosinophilia		ISO	RGD:730927	D	RGD:9068941	20200609	RGD		associated with Dermatitis, Atopic;DNA:polymorphism:promoter:-703C>T (human)	PMID:14581138|REF_RGD_ID:11354913
8803342	Il5	interleukin 5	gene	DOID:9001371	Eosinophilia	severity	ISO	RGD:730927	D	RGD:9068941	20200609	RGD		associated with Lymphoma, T-Cell	PMID:18395252|REF_RGD_ID:11354898
8803342	Il5	interleukin 5	gene	DOID:9001371	Eosinophilia	treatment	ISO	RGD:10799	D	RGD:9068941	20200609	RGD		associated with Toxocariasis	PMID:1699772|REF_RGD_ID:11354933
8803342	Il5	interleukin 5	gene	DOID:9002892	Parasitic Intestinal Diseases		ISO	RGD:730927	D	RGD:9068941	20200609	RGD			PMID:15534922|REF_RGD_ID:11354941
8803342	Il5	interleukin 5	gene	DOID:9003657	Perennial Allergic Rhinitis		ISO	RGD:730927	D	RGD:9068941	20200609	RGD		protein: increased levels: sputum	PMID:22186238|REF_RGD_ID:5687140
8803342	Il5	interleukin 5	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:2900	D	RGD:9068941	20200609	RGD			PMID:11267027|REF_RGD_ID:11354977
8803342	Il5	interleukin 5	gene	DOID:9006262	Cytomegalovirus Infections		ISO	RGD:730927	D	RGD:9068941	20200609	RGD			PMID:22293286|REF_RGD_ID:5687156
8803342	Il5	interleukin 5	gene	DOID:9006647	Experimental Autoimmune Neuritis	treatment	ISO	RGD:2900	D	RGD:9068941	20200609	RGD			PMID:22310911|REF_RGD_ID:11522768
8803342	Il5	interleukin 5	gene	DOID:9007073	Cough	treatment	ISO	RGD:730927	D	RGD:9068941	20200609	RGD			PMID:9525446|REF_RGD_ID:10449525
8803342	Il5	interleukin 5	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps	treatment	ISO	RGD:10799	D	RGD:9068941	20250904	RGD			PMID:23751068|REF_RGD_ID:626419675
8803342	Il5	interleukin 5	gene	DOID:9008865	Entamoebiasis		ISO	RGD:730927	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16374615
8803342	Il5	interleukin 5	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:730927	D	RGD:9068941	20200609	RGD			PMID:23054011|REF_RGD_ID:7241039
8803342	Il5	interleukin 5	gene	DOID:9362	status asthmaticus		ISO	RGD:730927	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:10934091|REF_RGD_ID:4890960
8803342	Il5	interleukin 5	gene	DOID:9415	allergic asthma		ISO	RGD:2900	D	RGD:9068941	20260409	RGD			PMID:19947994|REF_RGD_ID:4890938
8803342	Il5	interleukin 5	gene	DOID:9498	pulmonary eosinophilia		ISO	RGD:10799	D	RGD:9068941	20200609	RGD			PMID:9712797|REF_RGD_ID:4890961
8803342	Il5	interleukin 5	gene	DOID:9498	pulmonary eosinophilia		ISO	RGD:10799	D	RGD:9068941	20200609	RGD		associated with respiratory syncytial virus infection	PMID:18519743|REF_RGD_ID:4890941
8803342	Il5	interleukin 5	gene	DOID:9498	pulmonary eosinophilia		ISO	RGD:730927	D	RGD:9068941	20200609	RGD		associated with Pulmonary Fibrosis;protein:increased expression:respiratory system fluid/secretion	PMID:17597386|REF_RGD_ID:11354949
8803342	Il5	interleukin 5	gene	DOID:9498	pulmonary eosinophilia		ISO	RGD:730927	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:12765419|REF_RGD_ID:4890956
8803342	Il5	interleukin 5	gene	DOID:9498	pulmonary eosinophilia	treatment	ISO	RGD:10799	D	RGD:9068941	20200609	RGD			PMID:10471622|REF_RGD_ID:11354935
8803359	Slc6a19	solute carrier family 6 member 19	gene	DOID:0112265	iminoglycinuria		ISO	RGD:1604954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iminoglycinuria	PMID:25741868|PMID:28492532|PMID:30626930
8803359	Slc6a19	solute carrier family 6 member 19	gene	DOID:1059	intellectual disability		ISO	RGD:1604954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8803359	Slc6a19	solute carrier family 6 member 19	gene	DOID:1060	Hartnup disease		ISO	RGD:1604954	D	RGD:7240710	20180130	OMIM			
8803359	Slc6a19	solute carrier family 6 member 19	gene	DOID:1060	Hartnup disease		ISO	RGD:1604954	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: HARTNUP DISORDER | ClinVar Annotator: match by term: Hartnup disease | ClinVar Annotator: match by term: Hartnup disorder | ClinVar Annotator: match by term: Neutral 1 amino acid transport defect | ClinVar Annotator: match by term: SLC6A19-related condition	PMID:15286787|PMID:15286788|PMID:16199547|PMID:18484095|PMID:19185582|PMID:19472175|PMID:20399395|PMID:25741868|PMID:28492532|PMID:28924877|PMID:30626930|PMID:39611136
8803359	Slc6a19	solute carrier family 6 member 19	gene	DOID:10763	hypertension		ISO	RGD:1594328	D	RGD:9068941	20200609	RGD		mRNA:increased expression	PMID:17264310|REF_RGD_ID:1600036
8803359	Slc6a19	solute carrier family 6 member 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1604954	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8803359	Slc6a19	solute carrier family 6 member 19	gene	DOID:630	genetic disease		ISO	RGD:1604954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8803359	Slc6a19	solute carrier family 6 member 19	gene	DOID:9002189	High Myopia		ISO	RGD:1604954	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Severe Myopia	PMID:15286788|PMID:17576681|PMID:18484095|PMID:25741868|PMID:28492532|PMID:9536098
8803359	Slc6a19	solute carrier family 6 member 19	gene	DOID:9008487	hyperglycinuria		ISO	RGD:1604954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperglycinuria | ClinVar Annotator: match by term: IMINOGLYCINURIA TYPE II	PMID:25741868|PMID:28492532|PMID:30626930
8803378	Sipa1l2	signal induced proliferation associated 1 like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8803378	Sipa1l2	signal induced proliferation associated 1 like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8803378	Sipa1l2	signal induced proliferation associated 1 like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8803378	Sipa1l2	signal induced proliferation associated 1 like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8803378	Sipa1l2	signal induced proliferation associated 1 like 2	gene	DOID:1324	lung cancer		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8803378	Sipa1l2	signal induced proliferation associated 1 like 2	gene	DOID:1909	melanoma		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8803378	Sipa1l2	signal induced proliferation associated 1 like 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8803378	Sipa1l2	signal induced proliferation associated 1 like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8803378	Sipa1l2	signal induced proliferation associated 1 like 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8803378	Sipa1l2	signal induced proliferation associated 1 like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803378	Sipa1l2	signal induced proliferation associated 1 like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8803378	Sipa1l2	signal induced proliferation associated 1 like 2	gene	DOID:9002189	High Myopia		ISO	RGD:1314792	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
8803378	Sipa1l2	signal induced proliferation associated 1 like 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8803378	Sipa1l2	signal induced proliferation associated 1 like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8803378	Sipa1l2	signal induced proliferation associated 1 like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8803409	Prlhr	prolactin releasing hormone receptor	gene	DOID:10534	stomach cancer		ISO	RGD:732732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8803409	Prlhr	prolactin releasing hormone receptor	gene	DOID:10763	hypertension		ISO	RGD:732732	D	RGD:9068941	20200609	RGD		DNA:SNP, missense mutation:promoter, cds:-62G>A, 914C>T (p.P305L) (human)	PMID:14691196|REF_RGD_ID:1641832
8803409	Prlhr	prolactin releasing hormone receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:732732	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8803409	Prlhr	prolactin releasing hormone receptor	gene	DOID:9970	obesity		ISO	RGD:71037	D	RGD:9068941	20200609	RGD			PMID:15854142|REF_RGD_ID:1641829
8803441	Rlf	RLF zinc finger	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8803441	Rlf	RLF zinc finger	gene	DOID:1115	sarcoma		ISO	RGD:1313242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8803441	Rlf	RLF zinc finger	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8803441	Rlf	RLF zinc finger	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803441	Rlf	RLF zinc finger	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8803459	Rbmx2	RNA binding motif protein X-linked 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8803459	Rbmx2	RNA binding motif protein X-linked 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8803459	Rbmx2	RNA binding motif protein X-linked 2	gene	DOID:1324	lung cancer		ISO	RGD:1345969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8803459	Rbmx2	RNA binding motif protein X-linked 2	gene	DOID:1909	melanoma		ISO	RGD:1345969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8803459	Rbmx2	RNA binding motif protein X-linked 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1345969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8803459	Rbmx2	RNA binding motif protein X-linked 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8803459	Rbmx2	RNA binding motif protein X-linked 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803459	Rbmx2	RNA binding motif protein X-linked 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8803459	Rbmx2	RNA binding motif protein X-linked 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345969	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8803469	Tmco5a	transmembrane and coiled-coil domains 5A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8803469	Tmco5a	transmembrane and coiled-coil domains 5A	gene	DOID:10283	prostate cancer		ISO	RGD:1606151	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8803469	Tmco5a	transmembrane and coiled-coil domains 5A	gene	DOID:10283	prostate cancer		ISO	RGD:1606151	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8803513	Mtcl3	MTCL family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8803523	Arpc4	actin related protein 2/3 complex subunit 4	gene	DOID:14250	Down syndrome		ISO	RGD:1320803	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebral cortex (human)	PMID:12054546|REF_RGD_ID:11570562
8803523	Arpc4	actin related protein 2/3 complex subunit 4	gene	DOID:8893	psoriasis		ISO	RGD:1320804	D	RGD:9068941	20220825	MouseDO		OMIM:177900 | OMIM:601454 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106	
8803523	Arpc4	actin related protein 2/3 complex subunit 4	gene	DOID:9000955	Acute Otitis Media		IEP		D	RGD:11553828|PMID:26711468	20161013	RGD		mRNA, protein:increased expression:mucosa of middle ear	
8803523	Arpc4	actin related protein 2/3 complex subunit 4	gene	DOID:9005464	Developmental Delay, Language Impairment, and Ocular Abnormalities		ISO	RGD:1320803	D	RGD:7240710	20221214	OMIM			
8803533	Arhgap29	Rho GTPase activating protein 29	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8803533	Arhgap29	Rho GTPase activating protein 29	gene	DOID:0050746	mantle cell lymphoma		ISO	RGD:1606326	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17488656
8803533	Arhgap29	Rho GTPase activating protein 29	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8803533	Arhgap29	Rho GTPase activating protein 29	gene	DOID:0060782	EEC syndrome		ISO	RGD:1552150	D	RGD:9068941	20250724	MouseDO			
8803533	Arhgap29	Rho GTPase activating protein 29	gene	DOID:0080600	COVID-19		ISO	RGD:1606326	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8803533	Arhgap29	Rho GTPase activating protein 29	gene	DOID:0110213	isolated cleft palate		ISO	RGD:1606326	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Isolated cleft palate	PMID:25741868
8803533	Arhgap29	Rho GTPase activating protein 29	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606326	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	
8803533	Arhgap29	Rho GTPase activating protein 29	gene	DOID:10534	stomach cancer		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8803533	Arhgap29	Rho GTPase activating protein 29	gene	DOID:1324	lung cancer		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8803533	Arhgap29	Rho GTPase activating protein 29	gene	DOID:1909	melanoma		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8803533	Arhgap29	Rho GTPase activating protein 29	gene	DOID:4362	cervical cancer		ISO	RGD:1606326	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8803533	Arhgap29	Rho GTPase activating protein 29	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803533	Arhgap29	Rho GTPase activating protein 29	gene	DOID:630	genetic disease		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8803533	Arhgap29	Rho GTPase activating protein 29	gene	DOID:674	cleft palate		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
8803533	Arhgap29	Rho GTPase activating protein 29	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8803533	Arhgap29	Rho GTPase activating protein 29	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8803533	Arhgap29	Rho GTPase activating protein 29	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8803533	Arhgap29	Rho GTPase activating protein 29	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8803533	Arhgap29	Rho GTPase activating protein 29	gene	DOID:9296	cleft lip		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate	
8803571	Ostm1	osteoclastogenesis associated transmembrane protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8803571	Ostm1	osteoclastogenesis associated transmembrane protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8803571	Ostm1	osteoclastogenesis associated transmembrane protein 1	gene	DOID:0110939	autosomal recessive osteopetrosis 5		ISO	RGD:1345018	D	RGD:7240710	20180130	OMIM			
8803571	Ostm1	osteoclastogenesis associated transmembrane protein 1	gene	DOID:0110939	autosomal recessive osteopetrosis 5		ISO	RGD:1345018	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: OSTM1-related condition	PMID:25741868|PMID:28492532|PMID:34753502
8803571	Ostm1	osteoclastogenesis associated transmembrane protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1345018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8803571	Ostm1	osteoclastogenesis associated transmembrane protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8803571	Ostm1	osteoclastogenesis associated transmembrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803571	Ostm1	osteoclastogenesis associated transmembrane protein 1	gene	DOID:630	genetic disease		ISO	RGD:1345018	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8803571	Ostm1	osteoclastogenesis associated transmembrane protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8803571	Ostm1	osteoclastogenesis associated transmembrane protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8803593	Plekhg6	pleckstrin homology and RhoGEF domain containing G6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8803593	Plekhg6	pleckstrin homology and RhoGEF domain containing G6	gene	DOID:10534	stomach cancer		ISO	RGD:1605382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8803593	Plekhg6	pleckstrin homology and RhoGEF domain containing G6	gene	DOID:1324	lung cancer		ISO	RGD:1605382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8803593	Plekhg6	pleckstrin homology and RhoGEF domain containing G6	gene	DOID:1485	cystic fibrosis	severity	ISO	RGD:737288,RGD:736324,RGD:619566	D	RGD:9068941	20260101	RGD		DNA:SNP, haplotype:35T>A (rs740842)	PMID:16463024|REF_RGD_ID:629142775
8803593	Plekhg6	pleckstrin homology and RhoGEF domain containing G6	gene	DOID:3275	thymoma		ISO	RGD:1605382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8803593	Plekhg6	pleckstrin homology and RhoGEF domain containing G6	gene	DOID:4362	cervical cancer		ISO	RGD:1605382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8803593	Plekhg6	pleckstrin homology and RhoGEF domain containing G6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803593	Plekhg6	pleckstrin homology and RhoGEF domain containing G6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8803593	Plekhg6	pleckstrin homology and RhoGEF domain containing G6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8803616	Glrx	glutaredoxin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8803616	Glrx	glutaredoxin	gene	DOID:0080600	COVID-19		ISO	RGD:736383	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8803616	Glrx	glutaredoxin	gene	DOID:1324	lung cancer		ISO	RGD:736383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8803616	Glrx	glutaredoxin	gene	DOID:224	transient cerebral ischemia		ISO	RGD:70951	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:brain:	PMID:10329397|REF_RGD_ID:9686043
8803616	Glrx	glutaredoxin	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:70951	D	RGD:9068941	20200609	RGD		protein:increase activity:retina:	PMID:17324929|REF_RGD_ID:9686046
8803616	Glrx	glutaredoxin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8803616	Glrx	glutaredoxin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8803616	Glrx	glutaredoxin	gene	DOID:9970	obesity		ISO	RGD:70951	D	RGD:9068941	20200609	RGD		protein:increased expression:renal visceral adipose:	PMID:23404913|REF_RGD_ID:9686064
8803642	Bfar	bifunctional apoptosis regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1312438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8803642	Bfar	bifunctional apoptosis regulator	gene	DOID:1115	sarcoma		ISO	RGD:1312438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8803642	Bfar	bifunctional apoptosis regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1312438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8803642	Bfar	bifunctional apoptosis regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803642	Bfar	bifunctional apoptosis regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8803685	Srl	sarcalumenin	gene	DOID:1115	sarcoma		ISO	RGD:1315254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8803685	Srl	sarcalumenin	gene	DOID:1933	Rubinstein-Taybi syndrome		ISO	RGD:126758770	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Broad thumb-hallux syndrome	PMID:15706485|PMID:28492532
8803685	Srl	sarcalumenin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8803685	Srl	sarcalumenin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803685	Srl	sarcalumenin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8803705	Aplp1	amyloid beta precursor like protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8803705	Aplp1	amyloid beta precursor like protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736696	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8803705	Aplp1	amyloid beta precursor like protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:736696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8803705	Aplp1	amyloid beta precursor like protein 1	gene	DOID:1324	lung cancer		ISO	RGD:736696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8803705	Aplp1	amyloid beta precursor like protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8803705	Aplp1	amyloid beta precursor like protein 1	gene	DOID:3275	thymoma		ISO	RGD:736696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8803705	Aplp1	amyloid beta precursor like protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8803705	Aplp1	amyloid beta precursor like protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8803705	Aplp1	amyloid beta precursor like protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736696	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8803705	Aplp1	amyloid beta precursor like protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803705	Aplp1	amyloid beta precursor like protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:736696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8803705	Aplp1	amyloid beta precursor like protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8803705	Aplp1	amyloid beta precursor like protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8803705	Aplp1	amyloid beta precursor like protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8803705	Aplp1	amyloid beta precursor like protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8803732	Msh6	mutS homolog 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:27363726|PMID:28492532
8803732	Msh6	mutS homolog 6	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ductal carcinoma in situ	PMID:25741868|PMID:26845104|PMID:28492532|PMID:28874130
8803732	Msh6	mutS homolog 6	gene	DOID:0060104	cerebellar medulloblastoma		ISO	RGD:1321738	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebellar medulloblastoma	
8803732	Msh6	mutS homolog 6	gene	DOID:0060358	multiple acyl-CoA dehydrogenase deficiency		ISO	RGD:1321738	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Glutaric Acidemia type 2	PMID:21437237|PMID:25326637|PMID:25503501|PMID:25741868|PMID:26467025|PMID:26580448|PMID:28492532|PMID:29945567|PMID:33471991
8803732	Msh6	mutS homolog 6	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:15483016|PMID:16418736|PMID:16525781|PMID:18409202|PMID:18566915|PMID:19072991|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22886683|PMID:22949379|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29785566|PMID:29922827|PMID:30322717|PMID:30521064|PMID:31589614|PMID:31830689|PMID:31997046|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33422121|PMID:34271781|PMID:34637943|PMID:34873480|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
8803732	Msh6	mutS homolog 6	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1321738	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:10348829|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11807791|PMID:12376507|PMID:12732731|PMID:14520694|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15184898|PMID:15236168|PMID:15340264|PMID:1548301|PMID:15483016|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16771955|PMID:16813607|PMID:17117178|PMID:17453009|PMID:17531815|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18409202|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19723918|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21239990|PMID:21520333|PMID:21671081|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22691310|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23621914|PMID:23733757|PMID:23755103|PMID:23990280|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24710284|PMID:24728189|PMID:24728327|PMID:25117503|PMID:25142776|PMID:25307252|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26440929|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26832770|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27329137|PMID:27498913|PMID:27601186|PMID:27696107|PMID:28153049|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28878254|PMID:28944238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29785566|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30128536|PMID:30152102|PMID:30267214|PMID:30322717|PMID:30324682|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30608896|PMID:30702970|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31159747|PMID:31391288|PMID:31422818|PMID:31730237|PMID:31965077|PMID:32019284|PMID:32156018|PMID:32661327|PMID:32885271|PMID:33087929|PMID:33422027|PMID:33467402|PMID:33471991|PMID:34519692|PMID:35430768|PMID:35535697|PMID:36073783|PMID:5559809|PMID:8838326|PMID:9354786|PMID:9510473
8803732	Msh6	mutS homolog 6	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1321738	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:10348829|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11807791|PMID:12376507|PMID:12732731|PMID:14520694|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340264|PMID:1548301|PMID:15483016|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16771955|PMID:16813607|PMID:17117178|PMID:17453009|PMID:17531815|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18409202|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19723918|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21239990|PMID:21520333|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22691310|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23598716|PMID:23621914|PMID:23733757|PMID:23755103|PMID:23990280|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24710284|PMID:24728189|PMID:24728327|PMID:25085752|PMID:25117503|PMID:25142776|PMID:25307252|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26440929|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26832770|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27329137|PMID:27363726|PMID:27398995|PMID:27498913|PMID:27601186|PMID:27696107|PMID:27884168|PMID:28153049|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28528517|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29212164|PMID:29345684|PMID:29360161|PMID:29368341|PMID:29489754|PMID:29625052|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29785566|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30128536|PMID:30152102|PMID:30267214|PMID:30322717|PMID:30324682|PMID:30376427|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30608896|PMID:30702970|PMID:30787465|PMID:30917047|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31391288|PMID:31422818|PMID:31447099|PMID:31589614|PMID:31730237|PMID:31742824|PMID:31830689|PMID:31965077|PMID:31997046|PMID:32019284|PMID:32156018|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33087929|PMID:33309985|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33693762|PMID:34086170|PMID:34178123|PMID:34271781|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34637943|PMID:35128723|PMID:35372080|PMID:35430768|PMID:35449176|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36073783|PMID:36988593|PMID:551112|PMID:5559809|PMID:580251|PMID:8838326|PMID:9354786|PMID:9510473|PMID:9774676
8803732	Msh6	mutS homolog 6	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1321738	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:11153917|PMID:11807791|PMID:14974087|PMID:15483016|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18566915|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:20937110|PMID:21520333|PMID:21642682|PMID:21671081|PMID:22102614|PMID:22290698|PMID:23104009|PMID:23403630|PMID:23621914|PMID:23733757|PMID:23755103|PMID:24033266|PMID:24323032|PMID:24362816|PMID:25142776|PMID:25479140|PMID:25525159|PMID:25617771|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26552419|PMID:26845104|PMID:26898890|PMID:27363726|PMID:28153049|PMID:28492532|PMID:28514183|PMID:28528517|PMID:28767289|PMID:28944238|PMID:29107668|PMID:29345684|PMID:29360161|PMID:29489754|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29922827|PMID:29967336|PMID:30128536|PMID:30267214|PMID:30322717|PMID:30324682|PMID:30376427|PMID:30702970|PMID:30787465|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31391288|PMID:31422818|PMID:31447099|PMID:31742824|PMID:31965077|PMID:32060697|PMID:32156018|PMID:32661327|PMID:32720330|PMID:32875559|PMID:32885271|PMID:33087929|PMID:33422027|PMID:33467402|PMID:33471991|PMID:34178123|PMID:34326862|PMID:34426522|PMID:35372080|PMID:35430768|PMID:35449176|PMID:36243179|PMID:36356413|PMID:36451132|PMID:36988593
8803732	Msh6	mutS homolog 6	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:14520694|PMID:14974087|PMID:15184898|PMID:15483016|PMID:16237223|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16813607|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18566915|PMID:19072991|PMID:19723918|PMID:20007843|PMID:20176959|PMID:20301390|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21520333|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22703879|PMID:22886683|PMID:22949379|PMID:22949387|PMID:23104009|PMID:23621914|PMID:23755103|PMID:24033266|PMID:24055113|PMID:24323032|PMID:24362816|PMID:25142776|PMID:25637381|PMID:25741868|PMID:25985138|PMID:26467025|PMID:26832770|PMID:26845104|PMID:27153395|PMID:27363726|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28153049|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28591191|PMID:28767289|PMID:29107668|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29785566|PMID:29922827|PMID:30128536|PMID:30267214|PMID:30322717|PMID:30521064|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31391288|PMID:31589614|PMID:31830689|PMID:31965077|PMID:31997046|PMID:32060697|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32832836|PMID:32875559|PMID:32885271|PMID:32980694|PMID:33309985|PMID:33422121|PMID:33467402|PMID:33471991|PMID:34271781|PMID:34326862|PMID:34637943|PMID:34873480|PMID:35372080|PMID:35430768|PMID:35449176|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36356413|PMID:36451132|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
8803732	Msh6	mutS homolog 6	gene	DOID:0070272	hereditary nonpolyposis colorectal cancer type 5		ISO	RGD:1321738	D	RGD:7240710	20180130	OMIM			
8803732	Msh6	mutS homolog 6	gene	DOID:0070272	hereditary nonpolyposis colorectal cancer type 5		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer type 5 | ClinVar Annotator: match by term: LYNCH SYNDROME 5 | ClinVar Annotator: match by term: Lynch syndrome 5	PMID:10471527|PMID:10508506|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12732731|PMID:14520694|PMID:14871975|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15354210|PMID:15483016|PMID:15713769|PMID:15805151|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16813607|PMID:16885385|PMID:16940983|PMID:17498565|PMID:17531815|PMID:17576681|PMID:17653898|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18566915|PMID:18625694|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19250818|PMID:19685281|PMID:19723918|PMID:19851131|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:20924129|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21155762|PMID:21239990|PMID:21437237|PMID:21520333|PMID:21642682|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22886683|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23464690|PMID:23523604|PMID:23621914|PMID:23652311|PMID:23729658|PMID:23733757|PMID:23755103|PMID:23773459|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24100870|PMID:24244552|PMID:24307375|PMID:24323032|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24549055|PMID:24689082|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24933100|PMID:25006859|PMID:25085752|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25231023|PMID:25303977|PMID:25318351|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25617771|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25910913|PMID:25980754|PMID:25985138|PMID:26099011|PMID:26181448|PMID:26270727|PMID:26300997|PMID:26333163|PMID:26436112|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26648449|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26934580|PMID:26976419|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27329137|PMID:27363726|PMID:27372833|PMID:27398995|PMID:27432916|PMID:27449771|PMID:27601186|PMID:27696107|PMID:27863258|PMID:27930734|PMID:27965287|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28423363|PMID:28449805|PMID:28466842|PMID:28471861|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28528517|PMID:28531214|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28912153|PMID:28932927|PMID:28944238|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29245953|PMID:29263802|PMID:29345684|PMID:29348823|PMID:29368341|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29717530|PMID:29750335|PMID:29755653|PMID:29758562|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30019097|PMID:30093976|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30202019|PMID:30217226|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30608896|PMID:30630526|PMID:30702970|PMID:30787465|PMID:30877237|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31589614|PMID:31642931|PMID:31721781|PMID:31830689|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31965077|PMID:31997046|PMID:32060697|PMID:32068069|PMID:32113160|PMID:32123317|PMID:32234730|PMID:32427313|PMID:32459922|PMID:32540221|PMID:32547938|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32875559|PMID:32885271
8803732	Msh6	mutS homolog 6	gene	DOID:0070272	hereditary nonpolyposis colorectal cancer type 5		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer type 5 | ClinVar Annotator: match by term: LYNCH SYNDROME 5 | ClinVar Annotator: match by term: Lynch syndrome 5	PMID:32949329|PMID:32980694|PMID:32997692|PMID:33007869|PMID:33094597|PMID:33309985|PMID:33393477|PMID:33422121|PMID:33467402|PMID:33471991|PMID:33647816|PMID:33693762|PMID:33809641|PMID:34115236|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34873480|PMID:34897210|PMID:34994648|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35171259|PMID:35264596|PMID:35372080|PMID:35430768|PMID:35449176|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35884469|PMID:35886069|PMID:35980532|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36451132|PMID:36691871|PMID:36699461|PMID:36744932|PMID:36793599|PMID:36845387|PMID:36863448|PMID:36988593|PMID:37013556|PMID:37030500|PMID:37153042|PMID:37743058|PMID:37751191|PMID:37751715|PMID:37833309|PMID:37894291|PMID:37937776|PMID:37965459|PMID:38060977|PMID:38327772|PMID:38350919|PMID:38789506|PMID:38887977|PMID:38893230|PMID:39004446|PMID:39272843|PMID:39437510|PMID:39626160|PMID:40118241|PMID:6329717|PMID:9345684|PMID:9390556|PMID:9536098|PMID:9819445
8803732	Msh6	mutS homolog 6	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1321738	D	RGD:9068941	20200609	RGD			PMID:9401011|REF_RGD_ID:1625103
8803732	Msh6	mutS homolog 6	gene	DOID:0080502	GM1 gangliosidosis type 1		ISO	RGD:1321738	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1	PMID:23621914|PMID:24033266|PMID:25142776|PMID:25326637|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26689913|PMID:28492532|PMID:29684080|PMID:29945567|PMID:30267214|PMID:31159747|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31921681|PMID:33471991|PMID:34326862|PMID:34445333|PMID:35980532
8803732	Msh6	mutS homolog 6	gene	DOID:0080643	B-lymphoblastic leukemia/lymphoma with BCR-ABL1		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1	PMID:22658618|PMID:25741868|PMID:28492532|PMID:30267214
8803732	Msh6	mutS homolog 6	gene	DOID:0110276	autosomal recessive limb-girdle muscular dystrophy type 2B		ISO	RGD:1321738	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B	PMID:25326637|PMID:25741868|PMID:28492532
8803732	Msh6	mutS homolog 6	gene	DOID:0110845	xeroderma pigmentosum group D		ISO	RGD:1321738	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII	PMID:25741868|PMID:28492532|PMID:33471991
8803732	Msh6	mutS homolog 6	gene	DOID:0110957	Gaucher's disease type I		ISO	RGD:1321738	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gaucher disease, type 1	PMID:22493294
8803732	Msh6	mutS homolog 6	gene	DOID:0112182	mismatch repair cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MMR DEFICIENCY | ClinVar Annotator: match by term: Turcot syndrome	PMID:10537275|PMID:10612827|PMID:11807791|PMID:15354210|PMID:16885385|PMID:18269114|PMID:18566915|PMID:20028993|PMID:20301390|PMID:20487569|PMID:22006311|PMID:22081473|PMID:22290698|PMID:22495361|PMID:22703879|PMID:23047549|PMID:23104009|PMID:23621914|PMID:23652311|PMID:24033266|PMID:24362816|PMID:24728189|PMID:25231023|PMID:25741868|PMID:26467025|PMID:26845104|PMID:26898890|PMID:27363726|PMID:28135145|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28944238|PMID:29345684|PMID:29348823|PMID:29684080|PMID:29717530|PMID:29758562|PMID:29887214|PMID:30267214|PMID:30322717|PMID:31054147|PMID:31159747|PMID:31391288|PMID:32547938|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33471991|PMID:35449176|PMID:36243179|PMID:39437510
8803732	Msh6	mutS homolog 6	gene	DOID:10283	prostate cancer		ISO	RGD:1321738	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:25741868|PMID:28492532
8803732	Msh6	mutS homolog 6	gene	DOID:10534	stomach cancer		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:10471527|PMID:15236168|PMID:15483016|PMID:16418736|PMID:16525781|PMID:16813607|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18566915|PMID:19072991|PMID:19723918|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22250089|PMID:22886683|PMID:22949379|PMID:23047549|PMID:23104009|PMID:23621914|PMID:23755103|PMID:24033266|PMID:24244552|PMID:24362816|PMID:24689082|PMID:24933100|PMID:25006859|PMID:25525159|PMID:25741868|PMID:26436112|PMID:26467025|PMID:26720728|PMID:26832770|PMID:26845104|PMID:27363726|PMID:27372833|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27863258|PMID:27965287|PMID:27978560|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28765196|PMID:28767289|PMID:29345684|PMID:29489754|PMID:29684080|PMID:29758562|PMID:29785566|PMID:29922827|PMID:30019097|PMID:30147880|PMID:30322717|PMID:30376427|PMID:30521064|PMID:31307542|PMID:31391288|PMID:31589614|PMID:31830689|PMID:31997046|PMID:32427313|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32660107|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33393477|PMID:33422121|PMID:33471991|PMID:34271781|PMID:34637943|PMID:34667028|PMID:34873480|PMID:34994648|PMID:35449176|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36744932|PMID:36988593|PMID:37030500|PMID:37751191|PMID:37751715|PMID:37833309|PMID:38350919|PMID:38789506
8803732	Msh6	mutS homolog 6	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1321738	D	RGD:9068941	20200609	RGD		protein:decreased expression:urinary bladder	PMID:18254781|REF_RGD_ID:2293503
8803732	Msh6	mutS homolog 6	gene	DOID:1115	sarcoma		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8803732	Msh6	mutS homolog 6	gene	DOID:11830	myopia		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
8803732	Msh6	mutS homolog 6	gene	DOID:12176	goiter		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:17531815|PMID:23621914|PMID:25186627|PMID:25479140|PMID:25741868|PMID:27363726|PMID:28492532|PMID:33471991|PMID:34250417|PMID:34326862
8803732	Msh6	mutS homolog 6	gene	DOID:1240	leukemia		ISO	RGD:1321738	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Leukemia	PMID:21056691|PMID:24033266|PMID:25561518|PMID:25670083|PMID:25741868|PMID:26181448|PMID:26467025|PMID:28492532|PMID:30306255
8803732	Msh6	mutS homolog 6	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1321738	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia	PMID:23621914|PMID:25085752|PMID:25741868|PMID:26845104|PMID:27884168|PMID:28492532|PMID:30267214
8803732	Msh6	mutS homolog 6	gene	DOID:1324	lung cancer		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:27363726|PMID:28492532
8803732	Msh6	mutS homolog 6	gene	DOID:1380	endometrial cancer		ISO	RGD:1321738	D	RGD:7240710	20190213	OMIM			
8803732	Msh6	mutS homolog 6	gene	DOID:1380	endometrial cancer		ISO	RGD:1321738	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Endometrial cancer | ClinVar Annotator: match by term: endometrial cancer	PMID:12522549|PMID:18269114|PMID:20028993|PMID:20924129|PMID:23621914|PMID:24362816|PMID:24448499|PMID:24728327|PMID:25318681|PMID:25741868|PMID:25980754|PMID:26214590|PMID:26446363|PMID:26467025|PMID:26845104|PMID:27363726|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28492532|PMID:28531214|PMID:29044863|PMID:29345684|PMID:30093976|PMID:30159786|PMID:30322717|PMID:30376427|PMID:30543514|PMID:31054147|PMID:31386297|PMID:31391288|PMID:31604779|PMID:32773772|PMID:32980694|PMID:33471991|PMID:34088725
8803732	Msh6	mutS homolog 6	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:24033266|PMID:24100870|PMID:25741868|PMID:26467025|PMID:27363726|PMID:28492532|PMID:29684080|PMID:31307542|PMID:31422818|PMID:32634176|PMID:32804454|PMID:33471991|PMID:35449176|PMID:36169650|PMID:36243179
8803732	Msh6	mutS homolog 6	gene	DOID:1459	hypothyroidism		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:15483016|PMID:16418736|PMID:16525781|PMID:18409202|PMID:18566915|PMID:19072991|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22886683|PMID:22949379|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29785566|PMID:29922827|PMID:30322717|PMID:30521064|PMID:31589614|PMID:31830689|PMID:31997046|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33422121|PMID:34271781|PMID:34637943|PMID:34873480|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
8803732	Msh6	mutS homolog 6	gene	DOID:1520	colon carcinoma		ISO	RGD:1321738	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12537658|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14585961|PMID:14871975|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15805151|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18176851|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18415027|PMID:18523027|PMID:18566915|PMID:18625694|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19130300|PMID:19250818|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21520333|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22219001|PMID:22250089|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23294250|PMID:23403630|PMID:23523604|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23990280|PMID:24033266|PMID:24072394|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:25117503|PMID:25186627|PMID:25231023|PMID:25307252|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25617771|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25751794|PMID:25871441|PMID:25980754|PMID:26023681|PMID:26181448|PMID:26274037|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787237|PMID:26845104|PMID:26898890|PMID:26900293|PMID:27013479|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27498913|PMID:27601186|PMID:27723366|PMID:27863258|PMID:28125075|PMID:28135145|PMID:28153049|PMID:28176205|PMID:28323777|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28528517|PMID:28531214|PMID:28687356|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29212164|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29575718|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30306255|PMID:30322717|PMID:30337059|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30729418|PMID:31054147|PMID:31100584|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31447099|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31647837|PMID:31730237|PMID:31857677|PMID:31965077|PMID:31997046|PMID:32008151|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32242007|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32809219|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33693762|PMID:8838326|PMID:9345684|PMID:9536098
8803732	Msh6	mutS homolog 6	gene	DOID:1520	colon carcinoma		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:10537275|PMID:14520694|PMID:15184898|PMID:15236168|PMID:16237223|PMID:16341805|PMID:16813607|PMID:17854147|PMID:18269114|PMID:18566915|PMID:18809606|PMID:19459153|PMID:19723918|PMID:20028993|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21155762|PMID:21520333|PMID:22006311|PMID:22081473|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23621914|PMID:23652311|PMID:24033266|PMID:24055113|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24728189|PMID:25186627|PMID:25231023|PMID:25479140|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25980754|PMID:25985138|PMID:26181448|PMID:26333163|PMID:26467025|PMID:26517685|PMID:26552419|PMID:26681312|PMID:26845104|PMID:26898890|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27363726|PMID:27398995|PMID:27456091|PMID:27601186|PMID:28153049|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28944238|PMID:29345684|PMID:29348823|PMID:29368341|PMID:29717530|PMID:29750335|PMID:29755653|PMID:29758562|PMID:29887214|PMID:30128536|PMID:30306255|PMID:30322717|PMID:30376427|PMID:30608896|PMID:31054147|PMID:31100584|PMID:31204389|PMID:31307542|PMID:31391288|PMID:31965077|PMID:31997046|PMID:32068069|PMID:32459922|PMID:32547938|PMID:32642664|PMID:32719484|PMID:33467402|PMID:33471991|PMID:34326862|PMID:34944796|PMID:35263119|PMID:37013556|PMID:9345684
8803732	Msh6	mutS homolog 6	gene	DOID:1596	depressive disorder		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:17531815|PMID:23621914|PMID:25186627|PMID:25479140|PMID:25741868|PMID:26467025|PMID:27363726|PMID:28492532|PMID:29192238|PMID:32459922|PMID:32980694|PMID:33007869|PMID:33471991|PMID:34250417|PMID:34326862|PMID:35264596|PMID:35712480|PMID:36243179
8803732	Msh6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:15952900|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:23729658|PMID:24033266|PMID:24055113|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26901136|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28166811|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31921681|PMID:32019277|PMID:32615015|PMID:32980694|PMID:33471991
8803732	Msh6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26901136|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31921681|PMID:32019277|PMID:32615015|PMID:32634176|PMID:32980694|PMID:33471991
8803732	Msh6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31666926|PMID:31921681|PMID:32019277|PMID:32068069|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32658311|PMID:32659497|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33471991|PMID:34271781|PMID:34637943|PMID:35263119|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35884469
8803732	Msh6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31666926|PMID:31921681|PMID:32019277|PMID:32068069|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32658311|PMID:32659497|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33471991|PMID:34271781|PMID:34445333|PMID:34637943|PMID:35128723|PMID:35263119|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35980532|PMID:36988593
8803732	Msh6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27363726|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31666926|PMID:31921681|PMID:32019277|PMID:32068069|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32658311|PMID:32659497|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33471991|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34637943|PMID:35128723|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35534218|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35980532|PMID:36243179|PMID:36845387|PMID:36988593
8803732	Msh6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27363726|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31666926|PMID:31921681|PMID:32019277|PMID:32068069|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32658311|PMID:32659497|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33471991|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34637943|PMID:35128723|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35534218|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35980532|PMID:36243179|PMID:36845387|PMID:36988593
8803732	Msh6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21674763|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27363726|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30322717|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31589614|PMID:31666926|PMID:31830689|PMID:31921681|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32427313|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33309985|PMID:33471991|PMID:33563768|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34637943|PMID:35128723|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35534218|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35980532|PMID:36243179|PMID:36845387|PMID:36988593
8803732	Msh6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21255554|PMID:21520333|PMID:21674763|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27363726|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:2968408|PMID:29684080|PMID:29785566|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30322717|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31589614|PMID:31666926|PMID:31830689|PMID:31921681|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32427313|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33309985|PMID:33471991|PMID:33563768|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34598035|PMID:34637943|PMID:35128723|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35534218|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35980532|PMID:36243179|PMID:36845387|PMID:36988593
8803732	Msh6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21255554|PMID:21520333|PMID:21674763|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27363726|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:2968408|PMID:29684080|PMID:29785566|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30322717|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31589614|PMID:31666926|PMID:31830689|PMID:31921681|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32427313|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33309985|PMID:33471991|PMID:33563768|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34598035|PMID:34637943|PMID:35128723|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35534218|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35980532|PMID:36243179|PMID:36845387|PMID:36988593|PMID:38789506|PMID:38893230
8803732	Msh6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21255554|PMID:21520333|PMID:21674763|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27363726|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:2968408|PMID:29684080|PMID:29785566|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30322717|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31589614|PMID:31666926|PMID:31830689|PMID:31921681|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32427313|PMID:32540221|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33726816|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34598035|PMID:34637943|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35980532|PMID:36169650|PMID:36243179|PMID:36451132|PMID:36793599|PMID:36845387|PMID:36988593|PMID:37937776|PMID:38327772|PMID:38789506|PMID:38893230
8803732	Msh6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, PROTECTION AGAINST | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21674763|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27363726|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:2968408|PMID:29684080|PMID:29785566|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30322717|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31589614|PMID:31666926|PMID:31830689|PMID:31921681|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32427313|PMID:32540221|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33726816|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34598035|PMID:34637943|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35980532|PMID:36169650|PMID:36243179|PMID:36451132|PMID:36793599|PMID:36845387|PMID:36988593|PMID:37007083|PMID:37937776|PMID:38327772|PMID:38789506|PMID:38893230
8803732	Msh6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:15236168|PMID:15483016|PMID:16418736|PMID:16525781|PMID:17973265|PMID:18269114|PMID:18409202|PMID:18566915|PMID:19072991|PMID:19250818|PMID:19575290|PMID:20028993|PMID:20301390|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22495361|PMID:22886683|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24549055|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25503501|PMID:25741868|PMID:25980754|PMID:26437257|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27363726|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28460341|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28767289|PMID:28874130|PMID:28975465|PMID:29345684|PMID:29478780|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30128536|PMID:30267214|PMID:30322717|PMID:30376427|PMID:30521064|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31589614|PMID:31642931|PMID:31830689|PMID:31921681|PMID:31997046|PMID:32427313|PMID:32540221|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33309985|PMID:33422121|PMID:33471991|PMID:33606809|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34637943|PMID:34873480|PMID:35070997|PMID:35128723|PMID:35171259|PMID:35449176|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35884469|PMID:35980532|PMID:36169650|PMID:36243179|PMID:36451132|PMID:36744932|PMID:36793599|PMID:36988593|PMID:37937776|PMID:38327772|PMID:38350919|PMID:38789506|PMID:38887977|PMID:38893230|PMID:39626160
8803732	Msh6	mutS homolog 6	gene	DOID:1826	epilepsy		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:15483016|PMID:16418736|PMID:16525781|PMID:18409202|PMID:18566915|PMID:19072991|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22886683|PMID:22949379|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29785566|PMID:29922827|PMID:30322717|PMID:30521064|PMID:31589614|PMID:31830689|PMID:31997046|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33422121|PMID:34271781|PMID:34637943|PMID:34873480|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
8803732	Msh6	mutS homolog 6	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:15483016|PMID:16418736|PMID:16525781|PMID:18409202|PMID:18566915|PMID:19072991|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22886683|PMID:22949379|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29785566|PMID:29922827|PMID:30322717|PMID:30521064|PMID:31589614|PMID:31830689|PMID:31997046|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33422121|PMID:34271781|PMID:34637943|PMID:34873480|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
8803732	Msh6	mutS homolog 6	gene	DOID:1909	melanoma		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8803732	Msh6	mutS homolog 6	gene	DOID:1964	fallopian tube cancer		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fallopian tube cancer	PMID:26845104|PMID:28492532
8803732	Msh6	mutS homolog 6	gene	DOID:2030	anxiety disorder		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:17531815|PMID:23621914|PMID:25186627|PMID:25479140|PMID:25741868|PMID:26467025|PMID:27363726|PMID:28492532|PMID:29192238|PMID:32459922|PMID:32980694|PMID:33007869|PMID:33471991|PMID:34250417|PMID:34326862|PMID:35264596|PMID:35712480|PMID:36243179
8803732	Msh6	mutS homolog 6	gene	DOID:219	colon cancer		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:10537275|PMID:14974087|PMID:15483016|PMID:17531815|PMID:18269114|PMID:18301448|PMID:18566915|PMID:20007843|PMID:20028993|PMID:20301390|PMID:20487569|PMID:21642682|PMID:22006311|PMID:22081473|PMID:22495361|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23621914|PMID:23652311|PMID:24033266|PMID:24323032|PMID:24362816|PMID:24728189|PMID:25142776|PMID:25479140|PMID:25503501|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26689913|PMID:26845104|PMID:27363726|PMID:27978560|PMID:28492532|PMID:28514183|PMID:28724667|PMID:28767289|PMID:28944238|PMID:29107668|PMID:29345684|PMID:29348823|PMID:29625052|PMID:29717530|PMID:29758562|PMID:29922827|PMID:30322717|PMID:30877237|PMID:31054147|PMID:31391288|PMID:32060697|PMID:32540221|PMID:32659497|PMID:32719484|PMID:32875559|PMID:33471991|PMID:35534704|PMID:36243179|PMID:36356413|PMID:36451132|PMID:36793599|PMID:37937776|PMID:38887977|PMID:39626160
8803732	Msh6	mutS homolog 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of the colon | ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:23047549|PMID:23621914|PMID:25479140|PMID:25741868|PMID:26467025|PMID:26689913|PMID:27363726|PMID:28492532|PMID:31391288|PMID:33471991
8803732	Msh6	mutS homolog 6	gene	DOID:2394	ovarian cancer		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inherited ovarian cancer (without breast cancer) | ClinVar Annotator: match by term: Ovarian cancer	PMID:10612827|PMID:11470537|PMID:14520694|PMID:15872200|PMID:16813607|PMID:19389263|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24728327|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26845104|PMID:27363726|PMID:28492532|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30267214|PMID:31204389|PMID:31307542|PMID:31965077|PMID:32635641|PMID:33471991|PMID:34326862|PMID:35449176|PMID:36243179|PMID:37013556|PMID:38509102
8803732	Msh6	mutS homolog 6	gene	DOID:2841	asthma		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
8803732	Msh6	mutS homolog 6	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:10471527|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12732731|PMID:14520694|PMID:14974087|PMID:15184898|PMID:15236168|PMID:15354210|PMID:15483016|PMID:15713769|PMID:15805151|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16813607|PMID:16885385|PMID:17498565|PMID:17531815|PMID:17576681|PMID:17909073|PMID:17973265|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19723918|PMID:19851131|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:20924129|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21155762|PMID:21437237|PMID:21520333|PMID:21642682|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22886683|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23464690|PMID:23523604|PMID:23621914|PMID:23652311|PMID:23755103|PMID:23773459|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24100870|PMID:24323032|PMID:24351291|PMID:24356096|PMID:24362816|PMID:24448499|PMID:24549055|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24933100|PMID:25006859|PMID:25085752|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25231023|PMID:25303977|PMID:25318351|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25741868|PMID:25980754|PMID:25985138|PMID:26099011|PMID:26300997|PMID:26333163|PMID:26436112|PMID:26467025|PMID:26517685|PMID:26552419|PMID:26580448|PMID:26648449|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26720728|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26934580|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27329137|PMID:27363726|PMID:27372833|PMID:27398995|PMID:27443514|PMID:27449771|PMID:27601186|PMID:27696107|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28423363|PMID:28466842|PMID:28471861|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28531214|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28912153|PMID:28932927|PMID:28944238|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29345684|PMID:29348823|PMID:29368341|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29717530|PMID:29755653|PMID:29758562|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30093976|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30202019|PMID:30217226|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30521064|PMID:30630526|PMID:30680046|PMID:30702970|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31054147|PMID:31104363|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31428572|PMID:31589614|PMID:31744831|PMID:31830689|PMID:31852831|PMID:31921681|PMID:31927803|PMID:31965077|PMID:31997046|PMID:32060697|PMID:32068069|PMID:32113160|PMID:32427313|PMID:32459922|PMID:32547938|PMID:32635641|PMID:32652986|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32719484|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32875559|PMID:32885271|PMID:32949329|PMID:32973888|PMID:32980694|PMID:33007869|PMID:33094597|PMID:33309985|PMID:33422121|PMID:33471991|PMID:33647816|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34445333|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34873480|PMID:34994648|PMID:35002543|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35171259|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35430768|PMID:35449176|PMID:35534704|PMID:35535697|PMID:35655404|PMID:35712480|PMID:35725860|PMID:35884469|PMID:35886069|PMID:35980532|PMID:36091175|PMID:36230473|PMID:36243179
8803732	Msh6	mutS homolog 6	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:36356413|PMID:36451132|PMID:36744932|PMID:36845387|PMID:36863448|PMID:36896836|PMID:36988593|PMID:37153042|PMID:37229919|PMID:37743058|PMID:37894291|PMID:37937776|PMID:37965459|PMID:38060977|PMID:38327772|PMID:38350919|PMID:38789506|PMID:38893230|PMID:39004446|PMID:39272843|PMID:39437510|PMID:9345684|PMID:9354786|PMID:9536098
8803732	Msh6	mutS homolog 6	gene	DOID:2975	cystic kidney disease		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:23047549|PMID:23621914|PMID:25479140|PMID:25741868|PMID:26467025|PMID:26689913|PMID:27363726|PMID:28492532|PMID:31391288|PMID:33471991
8803732	Msh6	mutS homolog 6	gene	DOID:3070	high grade glioma		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:10471527|PMID:15236168|PMID:15483016|PMID:18269114|PMID:18301448|PMID:22006311|PMID:23047549|PMID:24362816|PMID:25006859|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26720728|PMID:27372833|PMID:27601186|PMID:27863258|PMID:28492532|PMID:29345684|PMID:29489754|PMID:29758562|PMID:30147880|PMID:30376427|PMID:31307542|PMID:32660107|PMID:33471991|PMID:34667028|PMID:36988593
8803732	Msh6	mutS homolog 6	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:1321738	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma	PMID:21520333|PMID:25741868|PMID:26467025|PMID:28153049|PMID:28492532|PMID:29750335|PMID:29755653|PMID:30128536|PMID:31100584|PMID:31965077|PMID:33467402
8803732	Msh6	mutS homolog 6	gene	DOID:3312	bipolar disorder		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:25741868
8803732	Msh6	mutS homolog 6	gene	DOID:3347	osteosarcoma		ISO	RGD:1321738	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Osteosarcoma	PMID:21056691|PMID:24033266|PMID:25561518|PMID:25670083|PMID:25741868|PMID:26181448|PMID:26467025|PMID:28492532|PMID:30306255
8803732	Msh6	mutS homolog 6	gene	DOID:3347	osteosarcoma	disease_progression	ISO	RGD:1321738	D	RGD:9068941	20210430	RGD			PMID:25503122|REF_RGD_ID:126848779
8803732	Msh6	mutS homolog 6	gene	DOID:3459	breast carcinoma		ISO	RGD:1321738	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Carcinoma of breast	PMID:10537275|PMID:10699937|PMID:11470537|PMID:12019211|PMID:12732731|PMID:15098177|PMID:15236168|PMID:15483016|PMID:15782118|PMID:15805151|PMID:16203774|PMID:16270383|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16771955|PMID:16885385|PMID:18269114|PMID:18301448|PMID:18355840|PMID:18409202|PMID:18523027|PMID:18566915|PMID:19072991|PMID:20028993|PMID:20487569|PMID:21039432|PMID:21056691|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23621914|PMID:24033266|PMID:24040339|PMID:24362816|PMID:25117503|PMID:25479140|PMID:25559809|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26832770|PMID:27601186|PMID:27696107|PMID:28176205|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29212164|PMID:29345684|PMID:29785566|PMID:29978187|PMID:30521064|PMID:31391288|PMID:31857677|PMID:31965077|PMID:32242007|PMID:33471991|PMID:8838326
8803732	Msh6	mutS homolog 6	gene	DOID:3459	breast carcinoma		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:15483016|PMID:16418736|PMID:16525781|PMID:18409202|PMID:18566915|PMID:19072991|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22886683|PMID:22949379|PMID:23621914|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29785566|PMID:29922827|PMID:30322717|PMID:30521064|PMID:31589614|PMID:31830689|PMID:31997046|PMID:32060697|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33422121|PMID:34271781|PMID:34637943|PMID:34873480|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36356413|PMID:36451132|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27920101|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:4520694|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:9536098|PMID:9564049|PMID:9774676|PMID:9819445|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20301500|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27920101|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:34519692|PMID:4520694|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9819445|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35535697|PMID:35806449|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854218|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35535697|PMID:35806449|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32449172|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35430768|PMID:35535697|PMID:35806449|PMID:36073783|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30733081|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32875559|PMID:32885271|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34343771|PMID:34359559|PMID:34425783|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35263119|PMID:35430768|PMID:35535697|PMID:35806449|PMID:36073783|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810|PMID:31642931
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:35039564|PMID:35070997|PMID:35245693|PMID:35263119|PMID:35430768|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:36073783|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35430768|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35904628|PMID:36073783|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810|PMID:31642931|PMID:31647837
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34250417|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36230473|PMID:36315513|PMID:36691871|PMID:36988593|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26694549|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854218|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34250417|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36230473|PMID:36315513|PMID:36691871|PMID:36988593|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26694549|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854218|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34250417|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34944796|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36230473|PMID:36315513|PMID:36691871|PMID:36988593|PMID:37307877|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27989324|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810|PMID:31642931
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34250417|PMID:34271781|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34944796|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36230473|PMID:36243179|PMID:36315513|PMID:36691871|PMID:36845387|PMID:36988593|PMID:37307877|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10786688|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12373605|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32029870|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:34011629|PMID:34048176|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34613461|PMID:34637943|PMID:34687117|PMID:34944796|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36315513|PMID:36470260|PMID:36691871|PMID:36793599|PMID:36845387|PMID:36988593|PMID:37307877|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:277857|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31784482|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32029870|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32826389|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:34011629|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34687117|PMID:34944796|PMID:34994648|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36091175|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36315513|PMID:36425062|PMID:36470260|PMID:36612224|PMID:36691871|PMID:36793599|PMID:36845387|PMID:36988593|PMID:37088804|PMID:37307877|PMID:4520694|PMID:503524|PMID:551112|PMID:5559809|PMID:580154|PMID:580251|PMID:624910|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26214590|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:277857|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27903930|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:2815724|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29130549|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30383610|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30835354|PMID:30877237
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31784482|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32029870|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32826389|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:34011629|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34848827|PMID:34944796|PMID:34994648|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35454858|PMID:35467778|PMID:35534704|PMID:35535697|PMID:35638907|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36091175|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36315513|PMID:36387226|PMID:36403965|PMID:36425062|PMID:36470260|PMID:36612224|PMID:36691871|PMID:36793599|PMID:36845387|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37153042|PMID:37307877|PMID:37894428|PMID:37965459|PMID:38060977|PMID:4520694|PMID:4728327|PMID:503524|PMID:551112|PMID:5559809|PMID:580154|PMID:580251|PMID:624910|PMID:6329717|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31784482|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32029870|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32826389|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:34011629|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34848827|PMID:34944796|PMID:34994648|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35454858|PMID:35467778|PMID:35534704|PMID:35535697|PMID:35638907|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36091175|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36315513|PMID:36387226|PMID:36403965|PMID:36425062|PMID:36470260|PMID:36612224|PMID:36691871|PMID:36793599|PMID:36845387|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37153042|PMID:37307877|PMID:37894428|PMID:37965459|PMID:38060977|PMID:4520694|PMID:4728327|PMID:503524|PMID:551112|PMID:5559809|PMID:580154|PMID:580251|PMID:624910|PMID:6329717|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31784482|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32029870|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32826389|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:34011629|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34848827|PMID:34944796|PMID:34994648|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35454858|PMID:35467778|PMID:35534704|PMID:35535697|PMID:35638907|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36091175|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36315513|PMID:36387226|PMID:36403965|PMID:36425062|PMID:36470260|PMID:36612224|PMID:36691871|PMID:36793599|PMID:36845387|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37153042|PMID:37307877|PMID:37743058|PMID:37894291|PMID:37894428|PMID:37965459|PMID:38060977|PMID:4520694|PMID:4728327|PMID:503524|PMID:551112|PMID:5559809|PMID:580154|PMID:580251|PMID:624910|PMID:6329717|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26214590|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:277857|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27903930|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:2815724|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29130549|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29758562|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30383610|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30835354
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10786688|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12373605|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:1388045|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:183784|PMID:183865|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20301500|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:216699|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23598716|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26214590|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:277857|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27903930|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:2815724|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28529006|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29130549|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29758562|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30383610|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30798936|PMID:30835354|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31744831|PMID:31783044|PMID:31784482|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32546831|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32826389|PMID:32830346|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33726816|PMID:33729574|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:33939675|PMID:34011629|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34404389|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34848827|PMID:34944796|PMID:34994648|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35180847|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35346574|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35454858|PMID:35467778|PMID:35482138|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35638907|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35969835|PMID:35980532|PMID:36073783|PMID:36091175|PMID:36169650|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36303034|PMID:36313796|PMID:36315513|PMID:36387226|PMID:36403965|PMID:36425062|PMID:36451132|PMID:36470260|PMID:36586540|PMID:36612224|PMID:36623239|PMID:36691871|PMID:36699461|PMID:36793599|PMID:36845387|PMID:36863448|PMID:36898365|PMID:36988593|PMID:37013556|PMID:37030500|PMID:37088804|PMID:37153042|PMID:37307877|PMID:37743058|PMID:37751191|PMID:37751715|PMID:37833309|PMID:37854294|PMID:37864171|PMID:37894291|PMID:37894428|PMID:37937776|PMID:37965459|PMID:38060977|PMID:38201524
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:38509102|PMID:38722212|PMID:38789506|PMID:38893230|PMID:39004446|PMID:39036440|PMID:39102164|PMID:39175077|PMID:39272843|PMID:4520694|PMID:4728327|PMID:503524|PMID:551112|PMID:5559809|PMID:580154|PMID:580251|PMID:624910|PMID:6329717|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10786688|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12373605|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:1388045|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:183784|PMID:183865|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:216699|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23598716|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25910913|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26214590|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:277857|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27903930|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:2815724|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28529006|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29130549|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29654263|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29758562|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30383610|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30787465|PMID:30798936|PMID:30835354|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31744831|PMID:31783044|PMID:31784482|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32546831|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32652986|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32830346|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33057194|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33215268|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33726816|PMID:33729574|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33850299|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:33939675|PMID:34011629|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34196900|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34404389|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34570441|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34848827|PMID:34873480|PMID:34897210|PMID:34944796|PMID:34994648|PMID:35002543|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35180847|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35346574|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35454858|PMID:35467778|PMID:35482138|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35638907|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35969835|PMID:35980532|PMID:35982159|PMID:36073783|PMID:36091175|PMID:36169650|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36303034|PMID:36313796|PMID:36315513|PMID:36387226|PMID:36403965|PMID:36425062|PMID:36451132|PMID:36470260|PMID:36586540|PMID:36591511|PMID:36612224|PMID:36623239|PMID:36691871|PMID:36699461|PMID:36793599|PMID:36804482|PMID:36845387|PMID:36863448|PMID:36898365|PMID:36988593|PMID:37013556|PMID:37030500|PMID:37088804|PMID:37153042
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:37229919|PMID:37307877|PMID:37743058|PMID:37751191|PMID:37751715|PMID:37833309|PMID:37854294|PMID:37864171|PMID:37894291|PMID:37894428|PMID:37937776|PMID:37965459|PMID:38060977|PMID:38201524|PMID:38297350|PMID:38327772|PMID:38509102|PMID:38722212|PMID:38789506|PMID:38893230|PMID:39004446|PMID:39036440|PMID:39102164|PMID:39175077|PMID:39272843|PMID:4520694|PMID:4728327|PMID:503524|PMID:5449176|PMID:551112|PMID:5559809|PMID:580154|PMID:580251|PMID:624910|PMID:6329717|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10786688|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12373605|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:1388045|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:183784|PMID:183865|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:216699|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23313954|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23598716|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24356096|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24500651|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25910913|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26214590|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:277857|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27903930|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:2815724|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28529006|PMID:28531214|PMID:28577310|PMID:28585536|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29130549|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29654263|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29758562|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30383610|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30835354|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31744831|PMID:31783044|PMID:31784482|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32546831|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32652986|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32830346|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33057194|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33215268|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33726816|PMID:33729574|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33850299|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:33939675|PMID:34011629|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34196900|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34404389|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34570441|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34848827|PMID:34873480|PMID:34897210|PMID:34944796|PMID:34994648|PMID:35002543|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35180847|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35346574|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35454858|PMID:35467778|PMID:35482138|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35638907|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35969835|PMID:35980532|PMID:35982159|PMID:36073783|PMID:36091175|PMID:36169650|PMID:36200007|PMID:36230473|PMID:36240479|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36303034|PMID:36313796|PMID:36315513|PMID:36387226|PMID:36403965|PMID:36425062|PMID:36451132|PMID:36470260|PMID:36586540|PMID:36591511|PMID:36612224|PMID:36623239|PMID:36691871|PMID:36699461|PMID:36793599|PMID:36804482|PMID:36845387|PMID:36863448|PMID:36898365
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:36988593|PMID:37013556|PMID:37030500|PMID:37088804|PMID:37153042|PMID:37229919|PMID:37307877|PMID:37415201|PMID:37743058|PMID:37751191|PMID:37751715|PMID:37833309|PMID:37854294|PMID:37864171|PMID:37894291|PMID:37894428|PMID:37937776|PMID:37965459|PMID:38060977|PMID:38201524|PMID:38297350|PMID:38327772|PMID:38509102|PMID:38722212|PMID:38789506|PMID:38893230|PMID:39004446|PMID:39036440|PMID:39102164|PMID:39175077|PMID:39272843|PMID:4520694|PMID:4728327|PMID:503524|PMID:5449176|PMID:551112|PMID:5559809|PMID:580154|PMID:580251|PMID:624910|PMID:6329717|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10636912|PMID:10675480|PMID:10699937|PMID:10786688|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12373605|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22232658|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23313954|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23598716|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24356096|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25910913|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26214590|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27903930|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:2815724|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28471861|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28529006|PMID:28531214|PMID:28577310|PMID:28585536|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29130549|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:2934568|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29654263|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29758562|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30238922|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30383610|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30835354|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31744831|PMID:31783044|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32546831|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32652986|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32830346|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33057194|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33215268|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33726816|PMID:33729574|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33850299|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:33939675|PMID:34011629|PMID:34034685|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34196900|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34404389|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34570441|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34848827|PMID:34873480|PMID:34897210|PMID:34944796|PMID:34994648|PMID:35002543|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35180847|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35346574|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35454858|PMID:35467778|PMID:35482138|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35638907|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35969835|PMID:35980532|PMID:35982159|PMID:36073783|PMID:36091175|PMID:36169650|PMID:36200007|PMID:36230473|PMID:36240479|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36303034|PMID:36313796|PMID:36315513|PMID:36387226|PMID:36403965|PMID:36425062|PMID:36451132|PMID:36470260|PMID:36586540|PMID:36591511|PMID:36612224|PMID:36623239|PMID:36691871|PMID:36699461|PMID:36793599|PMID:36804482|PMID:36845387|PMID:36863448|PMID:36898365|PMID:36988593
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:37007083|PMID:37013556|PMID:37030500|PMID:37088804|PMID:37153042|PMID:37229919|PMID:37307877|PMID:37415201|PMID:37658412|PMID:37743058|PMID:37751191|PMID:37751715|PMID:37833309|PMID:37854294|PMID:37864171|PMID:37894291|PMID:37894428|PMID:37937776|PMID:37965459|PMID:38060977|PMID:38136308|PMID:38201524|PMID:38297350|PMID:38311346|PMID:38327772|PMID:38509102|PMID:38722212|PMID:38789506|PMID:38843470|PMID:38893230|PMID:39004446|PMID:39036440|PMID:39102164|PMID:39175077|PMID:39272843|PMID:4520694|PMID:4728327|PMID:5449176|PMID:5559809|PMID:6329717|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9819445|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10636912|PMID:10675480|PMID:10699937|PMID:10786688|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12373605|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22232658|PMID:22250089|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23313954|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23598716|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24356096|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25910913|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26214590|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27903930|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:2815724|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28471861|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28529006|PMID:28531214|PMID:28577310|PMID:28585536|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29130549|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:2934568|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29654263|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29758562|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30238922|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30383610|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30835354|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31744831|PMID:31783044|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32546831|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32652986|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32830346|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33057194|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33215268|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33726816|PMID:33729574|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33850299|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:33939675|PMID:34011629|PMID:34034685|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34196900|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34404389|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34570441|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34848827|PMID:34873480|PMID:34897210|PMID:34944796|PMID:34994648|PMID:35002543|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35180847|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35346574|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35482138|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35638907|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35969835|PMID:35980532|PMID:35982159|PMID:36073783|PMID:36091175|PMID:36169650|PMID:36200007|PMID:36230473|PMID:36240479|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36303034|PMID:36313796|PMID:36315513|PMID:36387226|PMID:36403965|PMID:36425062|PMID:36451132|PMID:36470260|PMID:36586540|PMID:36591511|PMID:36612224|PMID:36623239|PMID:36691871|PMID:36699461|PMID:36793599|PMID:36804482|PMID:36845387|PMID:36863448|PMID:36898365|PMID:36988593|PMID:37007083|PMID:37013556|PMID:37030500|PMID:37088804|PMID:37153042|PMID:37229919|PMID:37307877
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:37415201|PMID:37658412|PMID:37743058|PMID:37751191|PMID:37751715|PMID:37833309|PMID:37854294|PMID:37864171|PMID:37894291|PMID:37894428|PMID:37937776|PMID:37965459|PMID:38060977|PMID:38136308|PMID:38201524|PMID:38297350|PMID:38311346|PMID:38327772|PMID:38509102|PMID:38722212|PMID:38789506|PMID:38843470|PMID:38893230|PMID:39004446|PMID:39036440|PMID:39102164|PMID:39175077|PMID:39272843|PMID:4520694|PMID:4728327|PMID:5449176|PMID:5559809|PMID:6329717|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9819445|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30835354|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31744831|PMID:31783044|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32546831|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32652986|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32830346|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33057194|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33215268|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33726816|PMID:33729574|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33850299|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:33939675|PMID:34011629|PMID:34034685|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34196900|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34404389|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34570441|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34848827|PMID:34873480|PMID:34897210|PMID:34944796|PMID:34994648|PMID:35002543|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35180847|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35346574|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35454858|PMID:35467778|PMID:35482138|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35638907|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35969835|PMID:35980532|PMID:35982159|PMID:36073783|PMID:36091175|PMID:36169650|PMID:36200007|PMID:36230473|PMID:36240479|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36303034|PMID:36313796|PMID:36315513|PMID:36387226|PMID:36403965|PMID:36425062|PMID:36451132|PMID:36470260|PMID:36586540|PMID:36591511|PMID:36612224|PMID:36623239|PMID:36691871|PMID:36699461|PMID:36793599|PMID:36804482|PMID:36845387|PMID:36863448|PMID:36898365|PMID:36988593|PMID:37007083|PMID:37013556|PMID:37030500|PMID:37088804|PMID:37153042
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:37229919|PMID:37307877|PMID:37415201|PMID:37658412|PMID:37743058|PMID:37751191|PMID:37751715|PMID:37833309|PMID:37854294|PMID:37864171|PMID:37894291|PMID:37894428|PMID:37937776|PMID:37965459|PMID:38060977|PMID:38136308|PMID:38201524|PMID:38297350|PMID:38311346|PMID:38327772|PMID:38509102|PMID:38722212|PMID:38789506|PMID:38843470|PMID:38893230|PMID:39004446|PMID:39036440|PMID:39102164|PMID:39175077|PMID:39272843|PMID:4520694|PMID:4728327|PMID:5449176|PMID:5559809|PMID:6329717|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9819445|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:10348829|PMID:10413423|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10636912|PMID:10675480|PMID:10699937|PMID:10786688|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15217520|PMID:15236168|PMID:15354210|PMID:15483016|PMID:15713769|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17453009|PMID:17498565|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19685281|PMID:19697156|PMID:19723918|PMID:19763152|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20487569|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20924129|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21155762|PMID:21239990|PMID:21388660|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22232658|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23464690|PMID:23523604|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23729658|PMID:23733757|PMID:23755103|PMID:23773459|PMID:24033266|PMID:24040339|PMID:24072394|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24356096|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24933100|PMID:25006859|PMID:25081409|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25910913|PMID:25954033|PMID:25980754|PMID:26099011|PMID:26177554|PMID:26200421|PMID:26270727|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26648449|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26845104|PMID:26898890|PMID:26934580|PMID:26976419|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27329137|PMID:27363726|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27701467|PMID:27863258|PMID:27903930|PMID:27920101|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28283864|PMID:28423363|PMID:28449805|PMID:28466842|PMID:28471861|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28932927
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:28944238|PMID:29025352|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29345684|PMID:29348823|PMID:29368341|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29758562|PMID:29875428|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30093976|PMID:30128536|PMID:30202019|PMID:30217226|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30383610|PMID:30426508|PMID:30521064|PMID:30608896|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31307542|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31428572|PMID:31570381|PMID:31658756|PMID:31660093|PMID:31721781|PMID:31742824|PMID:31744831|PMID:31822864|PMID:31852831|PMID:31857677|PMID:31927803|PMID:3195077|PMID:31965077|PMID:31997046|PMID:32002723|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32113160|PMID:32123317|PMID:32234730|PMID:32242007|PMID:32295079|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32652986|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720330|PMID:32739502|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32875559|PMID:32885271|PMID:32941469|PMID:32949329|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33046448|PMID:33393477|PMID:33414168|PMID:33467402|PMID:33471991|PMID:33563768|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33804961|PMID:33809641|PMID:33864561|PMID:33888356|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34250417|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34519692|PMID:34570441|PMID:34687117|PMID:34873480|PMID:34897210|PMID:34994648|PMID:35002543|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35454858|PMID:35482138|PMID:35534704|PMID:35638907|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35806449|PMID:35886069|PMID:35904628|PMID:36035419|PMID:36073783|PMID:36091175|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36403965|PMID:36591511|PMID:36612224|PMID:36691871|PMID:36699461|PMID:36804482|PMID:36845387|PMID:36863448|PMID:36988593|PMID:37013556|PMID:37030500|PMID:37088804|PMID:37153042|PMID:37229919|PMID:37244485|PMID:37658412|PMID:37743058|PMID:37751191|PMID:37751715|PMID:37833309|PMID:37894291|PMID:37937776|PMID:37965459|PMID:38003901|PMID:38060977|PMID:38297350|PMID:38327772|PMID:39004446|PMID:39036440|PMID:39272843|PMID:39437510|PMID:40118241|PMID:4520694|PMID:5449176|PMID:5559809|PMID:6329717|PMID:7604266|PMID:8838326|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9819445
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10636912|PMID:10675480|PMID:10699937|PMID:10786688|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15354210|PMID:15365995|PMID:15483016|PMID:15713769|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17417778|PMID:17453009|PMID:17498565|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19685281|PMID:19697156|PMID:19723918|PMID:19763152|PMID:19851131|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20487569|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21155762|PMID:21239990|PMID:21388660|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22232658|PMID:22250089|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22851212|PMID:22886683|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23417712|PMID:23464690|PMID:23523604|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23729658|PMID:23733757|PMID:23755103|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24356096|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24549055|PMID:24689082|PMID:24705251|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24933100|PMID:25006859|PMID:25081409|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25670083|PMID:25741868|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26270727|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26648449|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26934580|PMID:26976419|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27329137|PMID:27363726|PMID:27372833|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27600092|PMID:27601186
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:27616075|PMID:27696107|PMID:27701467|PMID:27854360|PMID:27863258|PMID:27903930|PMID:27920101|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27993330|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28283864|PMID:28423363|PMID:28449805|PMID:28466842|PMID:28471861|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:2852851|PMID:28528517|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28912153|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29717530|PMID:29750335|PMID:29755653|PMID:29758562|PMID:29785566|PMID:29875428|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30093976|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30202019|PMID:30217226|PMID:30238922|PMID:30256257|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30374176|PMID:30376427|PMID:30383610|PMID:30387329|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31589614|PMID:31642931|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31744831|PMID:31783044|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:3195077|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32652986|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32720330|PMID:32739502|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32875559|PMID:32885271|PMID:32941469|PMID:32949329|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33046448|PMID:33087929|PMID:33094597|PMID:33309985|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33422121|PMID:33467402|PMID:33471991|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33804961|PMID:33809641|PMID:33864561|PMID:33888356|PMID:34086170|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34570441|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34848827|PMID:34873480|PMID:34897210|PMID:34944796|PMID:34994648|PMID:35002543|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35454858|PMID:35482138|PMID:35534704|PMID:35535697|PMID:35638907|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36035419|PMID:36073783|PMID:36091175|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36387226|PMID:36403965|PMID:36451132|PMID:36591511|PMID:36612224|PMID:36691871|PMID:36699461|PMID:36744932|PMID:36793599|PMID:36804482|PMID:36845387|PMID:36863448|PMID:36898365|PMID:36988593|PMID:37013556
8803732	Msh6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:37030500|PMID:37088804|PMID:37153042|PMID:37229919|PMID:37244485|PMID:37658412|PMID:37743058|PMID:37751191|PMID:37751715|PMID:37833309|PMID:37894291|PMID:37937776|PMID:37965459|PMID:38003901|PMID:38060977|PMID:38297350|PMID:38327772|PMID:38350919|PMID:38789506|PMID:38887977|PMID:38893230|PMID:39004446|PMID:39272843|PMID:39437510|PMID:39626160|PMID:40118241|PMID:4520694|PMID:5559809|PMID:6329717|PMID:7604266|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9428522|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9819445|PMID:9851131|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1321738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21327329
8803732	Msh6	mutS homolog 6	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal cortex carcinoma	
8803732	Msh6	mutS homolog 6	gene	DOID:4007	bladder carcinoma		ISO	RGD:1321738	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Urinary bladder carcinoma	PMID:21056691|PMID:24033266|PMID:25561518|PMID:25670083|PMID:25741868|PMID:26181448|PMID:26467025|PMID:28492532|PMID:30306255
8803732	Msh6	mutS homolog 6	gene	DOID:4159	skin cancer		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant neoplasm of skin	PMID:26845104|PMID:28492532|PMID:31391288
8803732	Msh6	mutS homolog 6	gene	DOID:4362	cervical cancer		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8803732	Msh6	mutS homolog 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1321738	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8803732	Msh6	mutS homolog 6	gene	DOID:543	dystonia		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10508506|PMID:10521294|PMID:10537275|PMID:10675480|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29338689|PMID:29575718|PMID:29684080|PMID:29887214|PMID:30093976|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32566746|PMID:32773772|PMID:9510473
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10508506|PMID:10521294|PMID:10537275|PMID:10675480|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29575718|PMID:29684080|PMID:29887214|PMID:30093976|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:33309985|PMID:33471991|PMID:9510473
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10508506|PMID:10521294|PMID:10537275|PMID:10675480|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:33309985|PMID:33471991|PMID:9510473
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10508506|PMID:10521294|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27294619|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29345684|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30128536|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31660093|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:32854451|PMID:33309985|PMID:33471991|PMID:9510473
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10508506|PMID:10521294|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27294619|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29345684|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30128536|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31660093|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:32854451|PMID:33309985|PMID:33471991|PMID:34371384|PMID:9510473
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29212164|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30387329|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32660107|PMID:32773772|PMID:32854451|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:34371384|PMID:35128723|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29212164|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30387329|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32660107|PMID:32773772|PMID:32854451|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:34371384|PMID:35128723|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29212164|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30387329|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32660107|PMID:32773772|PMID:32854451|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:34371384|PMID:35128723|PMID:35467778|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29212164|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30387329|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32660107|PMID:32773772|PMID:32854451|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:34371384|PMID:34519692|PMID:35128723|PMID:35467778|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30387329|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32029870|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32660107|PMID:32773772|PMID:32832836|PMID:32854451|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33309985|PMID:33471991|PMID:33867526|PMID:34088725|PMID:34178123|PMID:34308104|PMID:34371384|PMID:34445333|PMID:34519692|PMID:35128723|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35904628|PMID:36243179|PMID:36793599|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30387329|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32029870|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32660107|PMID:32773772|PMID:32832836|PMID:32854451|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33087929|PMID:33309985|PMID:33471991|PMID:33867526|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34308104|PMID:34359559|PMID:34371384|PMID:34445333|PMID:34519692|PMID:35128723|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35904628|PMID:36230473|PMID:36243179|PMID:36793599|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18067074|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19685281|PMID:19851887|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24989436|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27380347|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28301460|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29641532|PMID:29684080|PMID:29752822|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30387329|PMID:30521064|PMID:30575961|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31589614|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31830689|PMID:31845022|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32029870|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32620917|PMID:32635641|PMID:32658311|PMID:32660107|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32854451|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33087929|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33867526|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34271781|PMID:34308104|PMID:34359559|PMID:34371384|PMID:34445333|PMID:34519692|PMID:34637943|PMID:35128723|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35904628|PMID:36230473|PMID:36243179|PMID:36793599|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18067074|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19685281|PMID:19851887|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24989436|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26214590|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27380347|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28301460|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29641532|PMID:29684080|PMID:29752822|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30387329|PMID:30521064|PMID:30575961|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31589614|PMID:31604779|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32029870|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32620917|PMID:32635641|PMID:32658311|PMID:32660107|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32854451|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33087929|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33867526|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34271781|PMID:34308104|PMID:34359559|PMID:34371384|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34848827|PMID:35128723|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35904628|PMID:36230473
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:36243179|PMID:36387226|PMID:36793599|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18067074|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19685281|PMID:19851887|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24989436|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26214590|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27363726|PMID:27380347|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28301460|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29641532|PMID:29684080|PMID:29752822|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30387329|PMID:30521064|PMID:30575961|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31589614|PMID:31604779|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32029870|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32620917|PMID:32635641|PMID:32658311|PMID:32660107|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32854451|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33087929|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33867526|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34271781|PMID:34308104|PMID:34359559|PMID:34371384|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34848827|PMID:35128723|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35904628
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:36230473|PMID:36243179|PMID:36387226|PMID:36793599|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18067074|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19685281|PMID:19851887|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24989436|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26214590|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27363726|PMID:27380347|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28301460|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29641532|PMID:29684080|PMID:29752822|PMID:29758562|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30387329|PMID:30521064|PMID:30575961|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31589614|PMID:31604779|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32029870|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32620917|PMID:32635641|PMID:32658311|PMID:32660107|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32854451|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33087929|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33867526|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34271781|PMID:34308104|PMID:34359559|PMID:34371384|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34848827|PMID:35128723|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35725860|PMID:35884469
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:35904628|PMID:36230473|PMID:36243179|PMID:36387226|PMID:36793599|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18067074|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19575290|PMID:19685281|PMID:19851887|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24989436|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26214590|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27363726|PMID:27380347|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28301460|PMID:28323777|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29641532|PMID:29684080|PMID:29752822|PMID:29758562|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30387329|PMID:30521064|PMID:30575961|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31589614|PMID:31604779|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32029870|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32620917|PMID:32635641|PMID:32658311|PMID:32660107|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32854451|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33087929|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33867526|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34271781|PMID:34308104|PMID:34359559|PMID:34371384|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34848827|PMID:35128723|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35467778
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:35535697|PMID:35725860|PMID:35884469|PMID:35904628|PMID:36230473|PMID:36243179|PMID:36387226|PMID:36793599|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18067074|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19575290|PMID:19685281|PMID:19851887|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24989436|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26214590|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27363726|PMID:27380347|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28301460|PMID:28323777|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29641532|PMID:29684080|PMID:29752822|PMID:29758562|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30376427|PMID:30387329|PMID:30521064|PMID:30575961|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31589614|PMID:31604779|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32029870|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32620917|PMID:32635641|PMID:32658311|PMID:32660107|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32854451|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33087929|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33867526|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34359559|PMID:34371384|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34848827|PMID:35128723|PMID:35171259
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:35264596|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35904628|PMID:36230473|PMID:36243179|PMID:36387226|PMID:36793599|PMID:36988593|PMID:37854294|PMID:38789506|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18067074|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19575290|PMID:19685281|PMID:19851887|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24989436|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26214590|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27363726|PMID:27380347|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28301460|PMID:28323777|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29641532|PMID:29684080|PMID:29752822|PMID:29758562|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30376427|PMID:30387329|PMID:30521064|PMID:30575961|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31589614|PMID:31604779|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32620917|PMID:32635641|PMID:32658311|PMID:32660107|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33867526|PMID:33939675|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34848827
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:35128723|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35534704|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35904628|PMID:36230473|PMID:36243179|PMID:36387226|PMID:36793599|PMID:36988593|PMID:37854294|PMID:38789506|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18067074|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19575290|PMID:19685281|PMID:19851887|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24989436|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26214590|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27363726|PMID:27380347|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28301460|PMID:28323777|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29641532|PMID:29654263|PMID:29684080|PMID:29752822|PMID:29758562|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30376427|PMID:30387329|PMID:30521064|PMID:30575961|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31589614|PMID:31604779|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32620917|PMID:32635641|PMID:32658311|PMID:32660107|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33057194|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33867526|PMID:33939675|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34445333|PMID:34519692
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:34637943|PMID:34848827|PMID:35128723|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35534704|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35982159|PMID:36230473|PMID:36243179|PMID:36387226|PMID:36793599|PMID:36988593|PMID:37854294|PMID:38789506|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19575290|PMID:19685281|PMID:19851887|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24989436|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26214590|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27363726|PMID:27380347|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28301460|PMID:28323777|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29641532|PMID:29654263|PMID:29684080|PMID:29752822|PMID:29758562|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30376427|PMID:30387329|PMID:30521064|PMID:30575961|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31589614|PMID:31604779|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32620917|PMID:32635641|PMID:32658311|PMID:32660107|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33057194|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33867526|PMID:33939675|PMID:34034685|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34445333
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:34519692|PMID:34637943|PMID:34848827|PMID:35128723|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35534704|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35982159|PMID:36230473|PMID:36243179|PMID:36387226|PMID:36793599|PMID:36988593|PMID:37007083|PMID:37854294|PMID:38789506|PMID:38843470|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19575290|PMID:19685281|PMID:19851887|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24989436|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26181448|PMID:26206375|PMID:26214590|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27363726|PMID:27380347|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28301460|PMID:28323777|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29641532|PMID:29654263|PMID:29684080|PMID:29752822|PMID:29758562|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30376427|PMID:30387329|PMID:30521064|PMID:30575961|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31589614|PMID:31604779|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32620917|PMID:32635641|PMID:32658311|PMID:32660107|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33057194|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33867526|PMID:33939675|PMID:34034685|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34848827|PMID:35128723
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:35171259|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35534704|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35982159|PMID:36230473|PMID:36243179|PMID:36387226|PMID:36793599|PMID:36988593|PMID:37007083|PMID:37854294|PMID:38789506|PMID:38843470|PMID:9307272|PMID:9510473|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10413423|PMID:11709755|PMID:11807791|PMID:17854147|PMID:18269114|PMID:18790734|PMID:19685281|PMID:22102614|PMID:22851212|PMID:23047549|PMID:23104009|PMID:23621914|PMID:23755103|PMID:24033266|PMID:24362816|PMID:25186627|PMID:25741868|PMID:26333163|PMID:26467025|PMID:26580448|PMID:27294619|PMID:27363726|PMID:27601186|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28878254|PMID:29641532|PMID:29684080|PMID:29755653|PMID:29945567|PMID:30702970|PMID:31386297|PMID:31391288|PMID:31660093|PMID:31965077|PMID:32091409|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32620917|PMID:33057194|PMID:33471991|PMID:33563768|PMID:34519692|PMID:35449176|PMID:35534704|PMID:35982159|PMID:36243179
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11709755|PMID:11807791|PMID:18269114|PMID:18790734|PMID:19685281|PMID:21056691|PMID:22102614|PMID:23104009|PMID:23621914|PMID:23755103|PMID:24033266|PMID:24362816|PMID:25186627|PMID:25561518|PMID:25670083|PMID:25741868|PMID:26181448|PMID:26333163|PMID:26467025|PMID:26580448|PMID:27294619|PMID:27363726|PMID:27601186|PMID:28492532|PMID:28514183|PMID:28767289|PMID:29684080|PMID:29755653|PMID:30306255|PMID:30702970|PMID:31386297|PMID:31391288|PMID:32060697|PMID:33057194|PMID:33471991|PMID:34519692|PMID:35449176|PMID:35982159|PMID:36243179|PMID:36356413|PMID:36451132
8803732	Msh6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11709755|PMID:11807791|PMID:12522549|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16237223|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16813607|PMID:18269114|PMID:18409202|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19685281|PMID:19723918|PMID:20176959|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22886683|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23621914|PMID:23755103|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24448499|PMID:24728327|PMID:25142776|PMID:25186627|PMID:25231023|PMID:25479140|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25980754|PMID:25985138|PMID:26181448|PMID:26333163|PMID:26467025|PMID:26580448|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:27153395|PMID:27294619|PMID:27363726|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:29044863|PMID:29684080|PMID:29755653|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30159786|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30521064|PMID:30702970|PMID:31159747|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31589614|PMID:31830689|PMID:31921681|PMID:31997046|PMID:32060697|PMID:32427313|PMID:32547938|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33057194|PMID:33309985|PMID:33422121|PMID:33471991|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34873480|PMID:35449176|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35980532|PMID:35982159|PMID:36243179|PMID:36356413|PMID:36451132|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506|PMID:38893230
8803732	Msh6	mutS homolog 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803732	Msh6	mutS homolog 6	gene	DOID:5750	endometrial serous adenocarcinoma		ISO	RGD:1321738	D	RGD:8554872	20240604	ClinVar		ClinVar Annotator: match by term: Papillary carcinoma of the corpus uteri	PMID:18269114|PMID:21642682|PMID:24362816|PMID:25741868|PMID:28492532|PMID:29922827
8803732	Msh6	mutS homolog 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8803732	Msh6	mutS homolog 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8803732	Msh6	mutS homolog 6	gene	DOID:7998	hyperthyroidism		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:17531815|PMID:23621914|PMID:25186627|PMID:25479140|PMID:25741868|PMID:27363726|PMID:28492532|PMID:33471991|PMID:34250417|PMID:34326862
8803732	Msh6	mutS homolog 6	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:1321738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25701956
8803732	Msh6	mutS homolog 6	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:2322311	D	RGD:9068941	20210430	RGD			PMID:18417481|REF_RGD_ID:2292505
8803732	Msh6	mutS homolog 6	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1321738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29616133
8803732	Msh6	mutS homolog 6	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:17531815|PMID:23621914|PMID:25186627|PMID:25479140|PMID:25741868|PMID:27363726|PMID:28492532|PMID:33471991|PMID:34250417|PMID:34326862
8803732	Msh6	mutS homolog 6	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian neoplasm	PMID:18269114|PMID:19851131|PMID:24362816|PMID:25741868|PMID:28423363|PMID:28492532|PMID:28514183|PMID:28888541|PMID:29758562|PMID:30013564|PMID:33094597
8803732	Msh6	mutS homolog 6	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:15483016|PMID:16418736|PMID:16525781|PMID:18409202|PMID:18566915|PMID:19072991|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22886683|PMID:22949379|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29785566|PMID:29922827|PMID:30322717|PMID:30521064|PMID:31589614|PMID:31830689|PMID:31997046|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33422121|PMID:34271781|PMID:34637943|PMID:34873480|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
8803732	Msh6	mutS homolog 6	gene	DOID:9003507	Premature Birth		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
8803732	Msh6	mutS homolog 6	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:1321738	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1	PMID:10508506|PMID:10537275|PMID:10612827|PMID:11470537|PMID:11709755|PMID:11807791|PMID:12019211|PMID:14520694|PMID:15483016|PMID:15782118|PMID:15872200|PMID:16000562|PMID:16408224|PMID:16636019|PMID:16813607|PMID:16885385|PMID:17531815|PMID:17557300|PMID:17594722|PMID:17909073|PMID:18269114|PMID:18301448|PMID:18566915|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20531397|PMID:20937110|PMID:21120944|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22851212|PMID:23047549|PMID:23104009|PMID:23359684|PMID:23621914|PMID:23652311|PMID:23729658|PMID:23733757|PMID:24033266|PMID:24040339|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24448499|PMID:24728189|PMID:24728327|PMID:25085752|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25801821|PMID:25892863|PMID:25980754|PMID:26206375|PMID:26214590|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27363726|PMID:27398995|PMID:27487738|PMID:28125075|PMID:28135145|PMID:28206961|PMID:28323777|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28640387|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29212164|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29489754|PMID:29596542|PMID:2968408|PMID:29684080|PMID:29717530|PMID:29755653|PMID:29758562|PMID:29887214|PMID:29967336|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30128536|PMID:30267214|PMID:30322717|PMID:30324682|PMID:30376427|PMID:30608896|PMID:30702970|PMID:30787465|PMID:30877237|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31159747|PMID:31204389|PMID:31307542|PMID:31360874|PMID:31391288|PMID:31422818|PMID:31447099|PMID:31501241|PMID:31604779|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31882575|PMID:31965077|PMID:32068069|PMID:32547938|PMID:32615015|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33294277|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33563768|PMID:33588785|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34250417|PMID:34359559|PMID:34426522|PMID:34445333|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35904628|PMID:36230473|PMID:36243179|PMID:36988593|PMID:37030500|PMID:37854294|PMID:38509102|PMID:4728327
8803732	Msh6	mutS homolog 6	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BTP1 SYNDROME | ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1	PMID:10537275|PMID:10612827|PMID:11807791|PMID:15354210|PMID:16885385|PMID:18269114|PMID:18566915|PMID:20028993|PMID:20301390|PMID:20487569|PMID:22006311|PMID:22081473|PMID:22290698|PMID:22495361|PMID:22703879|PMID:23047549|PMID:23104009|PMID:23621914|PMID:23652311|PMID:24033266|PMID:24362816|PMID:24728189|PMID:25231023|PMID:25741868|PMID:26467025|PMID:26845104|PMID:26898890|PMID:27363726|PMID:28135145|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28944238|PMID:29345684|PMID:29348823|PMID:29684080|PMID:29717530|PMID:29758562|PMID:29887214|PMID:30267214|PMID:30322717|PMID:31054147|PMID:31159747|PMID:31391288|PMID:32547938|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33471991|PMID:35449176|PMID:36243179|PMID:39437510
8803732	Msh6	mutS homolog 6	gene	DOID:9004351	Digestive System Neoplasms		ISO	RGD:1321738	D	RGD:9068941	20200609	RGD			PMID:9401011|REF_RGD_ID:1625103
8803732	Msh6	mutS homolog 6	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1321738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29616133
8803732	Msh6	mutS homolog 6	gene	DOID:9004751	Nausea		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nausea	PMID:23104009|PMID:23621914|PMID:23755103|PMID:25741868|PMID:26467025|PMID:27363726|PMID:28492532|PMID:28767289|PMID:29684080|PMID:31391288|PMID:33471991|PMID:35449176
8803732	Msh6	mutS homolog 6	gene	DOID:9004866	Ataxia		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:15483016|PMID:16418736|PMID:16525781|PMID:18409202|PMID:18566915|PMID:19072991|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22886683|PMID:22949379|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29785566|PMID:29922827|PMID:30322717|PMID:30521064|PMID:31589614|PMID:31830689|PMID:31997046|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33422121|PMID:34271781|PMID:34637943|PMID:34873480|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
8803732	Msh6	mutS homolog 6	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:30801050
8803732	Msh6	mutS homolog 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20301500|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:34519692|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:34445333|PMID:34519692|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:35039564|PMID:35535697|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854218|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35535697|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30211344|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30733081|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31815888|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32875559|PMID:32885271|PMID:32941469|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34343771|PMID:34359559|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34873480|PMID:35039564|PMID:35263119|PMID:35535697|PMID:35806449|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31815888|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34873480|PMID:35039564|PMID:35070997|PMID:35245693|PMID:35263119|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:12920072|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18759827|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20600922|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22204421|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22480969|PMID:22493294|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29174094|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31570381|PMID:31588121|PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31815888|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34873480|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35402282|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:36230473|PMID:36988593|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31588121|PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31815888|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34250417|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34873480|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36230473|PMID:36315513|PMID:36988593|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:12920072|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18759827|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20600922|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22204421|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22480969|PMID:22493294|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27989324|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31501241|PMID:31570381|PMID:31588121|PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31815888|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34250417|PMID:34271781|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34873480|PMID:34944796|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35534218|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36230473|PMID:36243179|PMID:36315513|PMID:36691871|PMID:36845387|PMID:36988593|PMID:37307877|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12373605|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:12920072|PMID:1388045|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:183784|PMID:183865|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18759827|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20600922|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:216699|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22204421|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22480969|PMID:22493294|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25741909|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:277857|PMID:27854218|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31784482|PMID:31785789|PMID:31815888|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32029870|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32826389|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:34011629|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34687117|PMID:34873480|PMID:34944796|PMID:34994648|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35534218|PMID:35535697|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35980532|PMID:36091175|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36315513|PMID:36425062|PMID:36470260|PMID:36612224|PMID:36691871|PMID:36793599|PMID:36845387|PMID:36988593|PMID:37088804|PMID:37153042|PMID:37307877|PMID:4520694|PMID:4728327|PMID:503524|PMID:551112|PMID:5559809|PMID:580154|PMID:580251|PMID:624910|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26214590|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:277857|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27884168|PMID:27903930|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:2815724|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29130549|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30383610|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30835354
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31784482|PMID:31785789|PMID:31815888|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32029870|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32826389|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:34011629|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34848827|PMID:34873480|PMID:34944796|PMID:34994648|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35454858|PMID:35467778|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35980532|PMID:36091175|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36315513|PMID:36387226|PMID:36403965|PMID:36425062|PMID:36470260|PMID:36612224|PMID:36691871|PMID:36793599|PMID:36845387|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37153042|PMID:37307877|PMID:37743058|PMID:37894428|PMID:37965459|PMID:38060977|PMID:4520694|PMID:4728327|PMID:503524|PMID:551112|PMID:5559809|PMID:580154|PMID:580251|PMID:624910|PMID:6329717|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12373605|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:12920072|PMID:1388045|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:183784|PMID:183865|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18759827|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20301500|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20600922|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:216699|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22204421|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22480969|PMID:22493294|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23598716|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26214590|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:277857|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27903930|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:2815724|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29130549|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30383610|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30835354
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10471527|PMID:10508506|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12732731|PMID:12920072|PMID:14520694|PMID:14871975|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15354210|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16813607|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17312306|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17576681|PMID:17653898|PMID:17718861|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18759827|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19526325|PMID:19685280|PMID:19685281|PMID:19723918|PMID:19851131|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:20600922|PMID:20682701|PMID:20924129|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21437237|PMID:21520333|PMID:21642682|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22204421|PMID:22250089|PMID:22277660|PMID:22290698|PMID:22306203|PMID:22493294|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22703879|PMID:22851212|PMID:22863191|PMID:22886683|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23464690|PMID:23523604|PMID:23588873|PMID:23621914|PMID:23652311|PMID:23729658|PMID:23733757|PMID:23755103|PMID:23773459|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24244552|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24933100|PMID:25006859|PMID:25085752|PMID:25093288|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25203624|PMID:25231023|PMID:25248401|PMID:25303977|PMID:25318351|PMID:25318681|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25617771|PMID:25637381|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25938944|PMID:25980754|PMID:25985138|PMID:26099011|PMID:26181448|PMID:26270727|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26648449|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26934580|PMID:26976419|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27329137|PMID:27363726|PMID:27372833|PMID:27398995|PMID:27432916|PMID:27443514|PMID:27449771|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27701467|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28283864|PMID:28423363|PMID:28449805|PMID:28452373|PMID:28466842|PMID:28471861|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28528517|PMID:28531214|PMID:28585536|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28912153|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29044863|PMID:29107668|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29345684|PMID:29348823|PMID:29368341|PMID:29442399|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29717530|PMID:29750335|PMID:29755653|PMID:29758562|PMID:29785153|PMID:29785566|PMID:29875428
8803732	Msh6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29887214|PMID:29899834|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30093976|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30202019|PMID:30211344|PMID:30217226|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30521064|PMID:30543514|PMID:30608896|PMID:30630526|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31642931|PMID:31721781|PMID:31742824|PMID:31744831|PMID:31815888|PMID:31830689|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31965077|PMID:31997046|PMID:32002723|PMID:32009247|PMID:32019277|PMID:32060697|PMID:32068069|PMID:32113160|PMID:32123317|PMID:32234730|PMID:32427313|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32652986|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32770442|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32936981|PMID:32941469|PMID:32949329|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33007869|PMID:33008098|PMID:33094597|PMID:33110269|PMID:33193653|PMID:33309985|PMID:33393477|PMID:33422121|PMID:33467402|PMID:33471991|PMID:33510387|PMID:33647816|PMID:33693762|PMID:33809641|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34445333|PMID:34519692|PMID:34579513|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34873480|PMID:34897210|PMID:34944796|PMID:34994648|PMID:35002543|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35101336|PMID:35128723|PMID:35171259|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36035419|PMID:36091175|PMID:36169650|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36451132|PMID:36591511|PMID:36744932|PMID:36793599|PMID:36845387|PMID:36863448|PMID:36988593|PMID:37013556|PMID:37030500|PMID:37153042|PMID:37229919|PMID:37307877|PMID:37743058|PMID:37751191|PMID:37751715|PMID:37833309|PMID:37894291|PMID:37894428|PMID:37937776|PMID:37965459|PMID:38060977|PMID:38093606|PMID:38311346|PMID:38327772|PMID:38350919|PMID:38789506|PMID:38874686|PMID:38887977|PMID:38893230|PMID:39004446|PMID:39272843|PMID:39433398|PMID:39437510|PMID:39626160|PMID:40118241|PMID:6329717|PMID:8838326|PMID:9345684|PMID:9354786|PMID:9536098|PMID:9819445
8803732	Msh6	mutS homolog 6	gene	DOID:9007150	Urogenital Neoplasms		ISO	RGD:1321738	D	RGD:9068941	20200609	RGD		DNA, protein:frameshift mutation, decreased expression	PMID:16288216|REF_RGD_ID:2293511
8803732	Msh6	mutS homolog 6	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm of the liver	PMID:25741868|PMID:28492532
8803732	Msh6	mutS homolog 6	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1321738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10508506
8803732	Msh6	mutS homolog 6	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:15483016|PMID:16418736|PMID:16525781|PMID:18409202|PMID:18566915|PMID:19072991|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22886683|PMID:22949379|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29785566|PMID:29922827|PMID:30322717|PMID:30521064|PMID:31589614|PMID:31830689|PMID:31997046|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33422121|PMID:34271781|PMID:34637943|PMID:34873480|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
8803732	Msh6	mutS homolog 6	gene	DOID:9008421	Epistaxis		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868
8803732	Msh6	mutS homolog 6	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast neoplasm	PMID:25741868|PMID:28492532
8803732	Msh6	mutS homolog 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321738	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:11153917|PMID:15805151|PMID:16199547|PMID:18269114|PMID:19924528|PMID:24362816|PMID:25741868|PMID:27064304|PMID:27363726|PMID:28492532
8803732	Msh6	mutS homolog 6	gene	DOID:9009116	Urinary Bladder Neoplasm		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder neoplasm	PMID:28492532
8803732	Msh6	mutS homolog 6	gene	DOID:9009145	Mismatch Repair Cancer Syndrome 3		ISO	RGD:1321738	D	RGD:7240710	20201202	OMIM			
8803732	Msh6	mutS homolog 6	gene	DOID:9009145	Mismatch Repair Cancer Syndrome 3		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 3 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 3	PMID:10471527|PMID:10537275|PMID:11153917|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12732731|PMID:14520694|PMID:15184898|PMID:15236168|PMID:15483016|PMID:15805151|PMID:16237223|PMID:16341805|PMID:16813607|PMID:17973265|PMID:18269114|PMID:18301448|PMID:18566915|PMID:18790734|PMID:19851131|PMID:19851887|PMID:19924528|PMID:20028993|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20924129|PMID:21120944|PMID:21155762|PMID:21437237|PMID:22006311|PMID:22081473|PMID:22290698|PMID:22703879|PMID:22851212|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23621914|PMID:23652311|PMID:24033266|PMID:24055113|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24448499|PMID:24689082|PMID:24728189|PMID:24728327|PMID:25006859|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25980754|PMID:25985138|PMID:26300997|PMID:26467025|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26934580|PMID:27064304|PMID:27153395|PMID:27363726|PMID:27372833|PMID:27601186|PMID:27863258|PMID:27930734|PMID:28423363|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28531214|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28888541|PMID:28932927|PMID:28944238|PMID:29044863|PMID:29192238|PMID:29245953|PMID:29345684|PMID:29348823|PMID:29368341|PMID:29489754|PMID:29575718|PMID:29684080|PMID:29717530|PMID:29758562|PMID:29887214|PMID:29945567|PMID:30013564|PMID:30093976|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30322717|PMID:30374176|PMID:30376427|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31921681|PMID:31927803|PMID:31997046|PMID:32060697|PMID:32068069|PMID:32113160|PMID:32459922|PMID:32658311|PMID:32660107|PMID:32719484|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33094597|PMID:33471991|PMID:34250417|PMID:34326862|PMID:34445333|PMID:34667028|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35534704|PMID:35712480|PMID:35886069|PMID:35980532|PMID:36243179|PMID:36356413|PMID:36451132|PMID:36845387|PMID:36988593|PMID:37526375|PMID:38893230|PMID:39004446
8803732	Msh6	mutS homolog 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8803732	Msh6	mutS homolog 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1321738	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077
8803732	Msh6	mutS homolog 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1321738	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18269114|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077
8803732	Msh6	mutS homolog 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1321738	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18269114|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077|PMID:33471991
8803732	Msh6	mutS homolog 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1321738	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18269114|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:30982232|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077|PMID:33471991|PMID:35128723
8803732	Msh6	mutS homolog 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1321738	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18269114|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24393486|PMID:24728327|PMID:25085752|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28944238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:30982232|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077|PMID:33471991|PMID:35128723
8803732	Msh6	mutS homolog 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10537275|PMID:11900875|PMID:18269114|PMID:18790734|PMID:21437237|PMID:22851212|PMID:23621914|PMID:24362816|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28531214|PMID:30374176|PMID:31391288
8803732	Msh6	mutS homolog 6	gene	DOID:9410	combined pituitary hormone deficiency		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Panhypopituitarism	PMID:15483016|PMID:16418736|PMID:16525781|PMID:18409202|PMID:18566915|PMID:19072991|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22886683|PMID:22949379|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29785566|PMID:29922827|PMID:30322717|PMID:30521064|PMID:31589614|PMID:31830689|PMID:31997046|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33422121|PMID:34271781|PMID:34637943|PMID:34873480|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
8803732	Msh6	mutS homolog 6	gene	DOID:9452	steatotic liver disease		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:23047549|PMID:23621914|PMID:25479140|PMID:25741868|PMID:26467025|PMID:26689913|PMID:27363726|PMID:28492532|PMID:31391288|PMID:33471991
8803732	Msh6	mutS homolog 6	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:15483016|PMID:16418736|PMID:16525781|PMID:18409202|PMID:18566915|PMID:19072991|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22886683|PMID:22949379|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29785566|PMID:29922827|PMID:30322717|PMID:30521064|PMID:31589614|PMID:31830689|PMID:31997046|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33422121|PMID:34271781|PMID:34637943|PMID:34873480|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
8803732	Msh6	mutS homolog 6	gene	DOID:9834	hyperopia		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:17531815|PMID:23621914|PMID:25186627|PMID:25479140|PMID:25741868|PMID:27363726|PMID:28492532|PMID:33471991|PMID:34250417|PMID:34326862
8803763	Gskip	GSK3B interacting protein	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1318256	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26280900
8803763	Gskip	GSK3B interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1318256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8803763	Gskip	GSK3B interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803763	Gskip	GSK3B interacting protein	gene	DOID:8692	myeloid leukemia		ISO	RGD:1318256	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26280900
8803771	Cacnb1	calcium voltage-gated channel auxiliary subunit beta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:68552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8803771	Cacnb1	calcium voltage-gated channel auxiliary subunit beta 1	gene	DOID:0060058	lymphoma		ISO	RGD:68552	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8803771	Cacnb1	calcium voltage-gated channel auxiliary subunit beta 1	gene	DOID:0111235	congenital muscular dystrophy-dystroglycanopathy type A12		ISO	RGD:68552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	PMID:25741868|PMID:8943043
8803771	Cacnb1	calcium voltage-gated channel auxiliary subunit beta 1	gene	DOID:10534	stomach cancer		ISO	RGD:68552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8803771	Cacnb1	calcium voltage-gated channel auxiliary subunit beta 1	gene	DOID:1324	lung cancer		ISO	RGD:68552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8803771	Cacnb1	calcium voltage-gated channel auxiliary subunit beta 1	gene	DOID:1909	melanoma		ISO	RGD:68552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8803771	Cacnb1	calcium voltage-gated channel auxiliary subunit beta 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:68552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8803771	Cacnb1	calcium voltage-gated channel auxiliary subunit beta 1	gene	DOID:423	myopathy		ISO	RGD:68552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:8943043
8803771	Cacnb1	calcium voltage-gated channel auxiliary subunit beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803814	Limd2	LIM domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8803814	Limd2	LIM domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8803814	Limd2	LIM domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1603297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8803814	Limd2	LIM domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803814	Limd2	LIM domain containing 2	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1603297	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18925433
8803814	Limd2	LIM domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8803814	Limd2	LIM domain containing 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1603297	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18925433
8803822	Slc14a1	solute carrier family 14 member 1 (Kidd blood group)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8803822	Slc14a1	solute carrier family 14 member 1 (Kidd blood group)	gene	DOID:1098	hemolytic disease of the fetus		ISO	RGD:1354455	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: BLOOD GROUP, KIDD SYSTEM	
8803822	Slc14a1	solute carrier family 14 member 1 (Kidd blood group)	gene	DOID:1909	melanoma		ISO	RGD:1354455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8803822	Slc14a1	solute carrier family 14 member 1 (Kidd blood group)	gene	DOID:4362	cervical cancer		ISO	RGD:1354455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8803822	Slc14a1	solute carrier family 14 member 1 (Kidd blood group)	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8803822	Slc14a1	solute carrier family 14 member 1 (Kidd blood group)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803822	Slc14a1	solute carrier family 14 member 1 (Kidd blood group)	gene	DOID:718	autoimmune hemolytic anemia		ISO	RGD:1354455	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:6427987
8803822	Slc14a1	solute carrier family 14 member 1 (Kidd blood group)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8803822	Slc14a1	solute carrier family 14 member 1 (Kidd blood group)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8803842	Pars2	prolyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8803842	Pars2	prolyl-tRNA synthetase 2, mitochondrial	gene	DOID:0112211	developmental and epileptic encephalopathy 75		ISO	RGD:1603670	D	RGD:7240710	20190612	OMIM			
8803842	Pars2	prolyl-tRNA synthetase 2, mitochondrial	gene	DOID:0112211	developmental and epileptic encephalopathy 75		ISO	RGD:1603670	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 75 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75 | ClinVar Annotator: match by term: PARS2-related condition	PMID:25629079|PMID:25705216|PMID:25741868|PMID:28077841|PMID:28492532|PMID:29410512|PMID:29915213|PMID:30237576|PMID:31130284|PMID:32071833|PMID:32514400|PMID:32533790|PMID:38703036
8803842	Pars2	prolyl-tRNA synthetase 2, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1603670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8803842	Pars2	prolyl-tRNA synthetase 2, mitochondrial	gene	DOID:2661	myoepithelioma		ISO	RGD:1603670	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8803842	Pars2	prolyl-tRNA synthetase 2, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1603670	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10447505|PMID:25741868|PMID:28492532|PMID:35012964|PMID:38469956
8803842	Pars2	prolyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8803864	Asb8	ankyrin repeat and SOCS box containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8803864	Asb8	ankyrin repeat and SOCS box containing 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8803864	Asb8	ankyrin repeat and SOCS box containing 8	gene	DOID:4362	cervical cancer		ISO	RGD:1319481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8803864	Asb8	ankyrin repeat and SOCS box containing 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8803864	Asb8	ankyrin repeat and SOCS box containing 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8803902	Ogn	osteoglycin	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1317793	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085005
8803913	Parp11	poly(ADP-ribose) polymerase family member 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803913	Parp11	poly(ADP-ribose) polymerase family member 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8803913	Parp11	poly(ADP-ribose) polymerase family member 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8803913	Parp11	poly(ADP-ribose) polymerase family member 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8803964	Slc16a14	solute carrier family 16 member 14	gene	DOID:1909	melanoma		ISO	RGD:1320146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8803964	Slc16a14	solute carrier family 16 member 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8803964	Slc16a14	solute carrier family 16 member 14	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8803964	Slc16a14	solute carrier family 16 member 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803964	Slc16a14	solute carrier family 16 member 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8803977	Cfap251	cilia and flagella associated protein 251	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8803977	Cfap251	cilia and flagella associated protein 251	gene	DOID:0111915	spermatogenic failure 33		ISO	RGD:1606715	D	RGD:7240710	20190315	OMIM			
8803977	Cfap251	cilia and flagella associated protein 251	gene	DOID:0111915	spermatogenic failure 33		ISO	RGD:1606715	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CFAP251-related condition | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 33 | ClinVar Annotator: match by term: Spermatogenic failure 33 | ClinVar Annotator: match by term: spermatogenic failure 33	PMID:25741868|PMID:30122541
8803977	Cfap251	cilia and flagella associated protein 251	gene	DOID:10534	stomach cancer		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8803977	Cfap251	cilia and flagella associated protein 251	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8803977	Cfap251	cilia and flagella associated protein 251	gene	DOID:1115	sarcoma		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8803977	Cfap251	cilia and flagella associated protein 251	gene	DOID:1324	lung cancer		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8803977	Cfap251	cilia and flagella associated protein 251	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8803977	Cfap251	cilia and flagella associated protein 251	gene	DOID:4362	cervical cancer		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8803977	Cfap251	cilia and flagella associated protein 251	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8803977	Cfap251	cilia and flagella associated protein 251	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8803977	Cfap251	cilia and flagella associated protein 251	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8803977	Cfap251	cilia and flagella associated protein 251	gene	DOID:9001513	Asthenozoospermia		ISO	RGD:1606715	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: asthenozoospermia	PMID:30122541
8803977	Cfap251	cilia and flagella associated protein 251	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8803977	Cfap251	cilia and flagella associated protein 251	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8804004	Tusc2	tumor suppressor 2, mitochondrial calcium regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1343391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8804004	Tusc2	tumor suppressor 2, mitochondrial calcium regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804004	Tusc2	tumor suppressor 2, mitochondrial calcium regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8804004	Tusc2	tumor suppressor 2, mitochondrial calcium regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8804023	Uck2	uridine-cytidine kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8804023	Uck2	uridine-cytidine kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1602230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8804023	Uck2	uridine-cytidine kinase 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1602230	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreatic neoplasm (human)	PMID:12149149|REF_RGD_ID:5133269
8804023	Uck2	uridine-cytidine kinase 2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1602230	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8804023	Uck2	uridine-cytidine kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1602230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8804023	Uck2	uridine-cytidine kinase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8804023	Uck2	uridine-cytidine kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804023	Uck2	uridine-cytidine kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8804023	Uck2	uridine-cytidine kinase 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1602230	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24763052
8804023	Uck2	uridine-cytidine kinase 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620742	D	RGD:9068941	20200609	RGD		protein:decreased activity:heart, skeletal muscle	PMID:221781|REF_RGD_ID:2317214
8804023	Uck2	uridine-cytidine kinase 2	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1602230	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8804023	Uck2	uridine-cytidine kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8804023	Uck2	uridine-cytidine kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8804036	Sez6l2	seizure related 6 homolog like 2	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1606022	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
8804036	Sez6l2	seizure related 6 homolog like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8804036	Sez6l2	seizure related 6 homolog like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8804036	Sez6l2	seizure related 6 homolog like 2	gene	DOID:12849	autistic disorder		ISO	RGD:1606022	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:19242545
8804036	Sez6l2	seizure related 6 homolog like 2	gene	DOID:1324	lung cancer		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8804036	Sez6l2	seizure related 6 homolog like 2	gene	DOID:1909	melanoma		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8804036	Sez6l2	seizure related 6 homolog like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8804036	Sez6l2	seizure related 6 homolog like 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8804036	Sez6l2	seizure related 6 homolog like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606022	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8804036	Sez6l2	seizure related 6 homolog like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804036	Sez6l2	seizure related 6 homolog like 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8804036	Sez6l2	seizure related 6 homolog like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8804036	Sez6l2	seizure related 6 homolog like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8804067	Fam131c	family with sequence similarity 131 member C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8804067	Fam131c	family with sequence similarity 131 member C	gene	DOID:1115	sarcoma		ISO	RGD:1606908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8804067	Fam131c	family with sequence similarity 131 member C	gene	DOID:4362	cervical cancer		ISO	RGD:1606908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8804067	Fam131c	family with sequence similarity 131 member C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8804085	Prdm1	PR/SET domain 1	gene	DOID:0050745	diffuse large B-cell lymphoma	disease_progression	ISO	RGD:1323391	D	RGD:9068941	20211210	RGD			PMID:22321048|REF_RGD_ID:150530470
8804085	Prdm1	PR/SET domain 1	gene	DOID:0060058	lymphoma		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8804085	Prdm1	PR/SET domain 1	gene	DOID:0080600	COVID-19		ISO	RGD:1323391	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8804085	Prdm1	PR/SET domain 1	gene	DOID:0080797	nasal type extranodal NK/T-cell lymphoma	disease_progression	ISO	RGD:1323391	D	RGD:9068941	20211210	RGD			PMID:24438193|REF_RGD_ID:150530467
8804085	Prdm1	PR/SET domain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8804085	Prdm1	PR/SET domain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8804085	Prdm1	PR/SET domain 1	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1323391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24097067
8804085	Prdm1	PR/SET domain 1	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:1323391	D	RGD:9068941	20211210	RGD			PMID:28378641|REF_RGD_ID:150530469
8804085	Prdm1	PR/SET domain 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8804085	Prdm1	PR/SET domain 1	gene	DOID:1909	melanoma		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8804085	Prdm1	PR/SET domain 1	gene	DOID:3234	central nervous system lymphoma		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary central nervous system lymphoma	PMID:27993330
8804085	Prdm1	PR/SET domain 1	gene	DOID:3275	thymoma		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8804085	Prdm1	PR/SET domain 1	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1323391	D	RGD:9068941	20211210	RGD			PMID:28378641|REF_RGD_ID:150530469
8804085	Prdm1	PR/SET domain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8804085	Prdm1	PR/SET domain 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323391	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8804085	Prdm1	PR/SET domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804085	Prdm1	PR/SET domain 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:27993330
8804085	Prdm1	PR/SET domain 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1323391	D	RGD:9068941	20211210	RGD		associated with hepatitis B;	PMID:31100710|REF_RGD_ID:150530465
8804085	Prdm1	PR/SET domain 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1323391	D	RGD:9068941	20211210	RGD		associated with hepatitis B;DNA:SNP: :rs1010273(human)	PMID:31376415|REF_RGD_ID:150530466
8804085	Prdm1	PR/SET domain 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1323391	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:19898481|PMID:20453842|PMID:23143596|PMID:36181686
8804085	Prdm1	PR/SET domain 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:1323391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21297633
8804085	Prdm1	PR/SET domain 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1323391	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: therapeutic	PMID:36181686
8804085	Prdm1	PR/SET domain 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8804085	Prdm1	PR/SET domain 1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1323391	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: therapeutic	PMID:33109608
8804085	Prdm1	PR/SET domain 1	gene	DOID:9008163	Chronic Hepatitis B	disease_progression	ISO	RGD:1323391	D	RGD:9068941	20211210	RGD			PMID:31100710|REF_RGD_ID:150530465
8804085	Prdm1	PR/SET domain 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1323391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19838195
8804085	Prdm1	PR/SET domain 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1323392	D	RGD:9068941	20220825	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
8804085	Prdm1	PR/SET domain 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1323391	D	RGD:9068941	20211210	RGD		mRNA:increased expression:colorectum:	PMID:32393998|REF_RGD_ID:150530478
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:0002116	pterygium	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:19420332|REF_RGD_ID:8657043
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:16681691|REF_RGD_ID:1581215
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:0051061	stroke		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased expression: :	PMID:19840223|REF_RGD_ID:2325713
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:0051061	stroke		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:16599837|REF_RGD_ID:1582617
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:17642161|REF_RGD_ID:2290392
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:18194448|REF_RGD_ID:8547896
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:0080001	bone disease		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17440987
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:0080162	lupus nephritis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22479529
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:0080334	aortic valve disease 2		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:23615040|REF_RGD_ID:13204802
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:0080600	COVID-19		ISO	RGD:730821	D	RGD:9068941	20200820	RGD		protein:increased expression:plasma (human)	PMID:32696007|REF_RGD_ID:38501088
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:0080685	aortic dissection	treatment	ISO	RGD:730822	D	RGD:9068941	20230223	RGD		Apolipoprotein E knockout	PMID:33403385|REF_RGD_ID:156420156
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:0080746	Sweet syndrome		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:skin	PMID:21658319|REF_RGD_ID:8657060
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:0080933	immunoglobulin light chain amyloidosis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:renal glomeruli (human)	PMID:16164636|REF_RGD_ID:7207084
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:0080998	acute necrotizing pancreatitis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas (rat)	PMID:11590325|REF_RGD_ID:7207204
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:0081292	traumatic brain injury		ISO	RGD:621316	D	RGD:9068941	20230727	RGD		protein:increased expression:cerebral cortex	PMID:27614125|REF_RGD_ID:329961568
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:0111563	Sturge-Weber syndrome	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:23720035|REF_RGD_ID:13204823
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:10126	keratoconus		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:22580443|REF_RGD_ID:8657033
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:10159	osteonecrosis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19070762
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:18329693|REF_RGD_ID:2290389
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:10534	stomach cancer		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:10588	adrenoleukodystrophy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:23185624|REF_RGD_ID:13204814
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:1059	intellectual disability		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:10591	pre-eclampsia		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:placenta	PMID:17083831|REF_RGD_ID:2290399
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:decreased expression:platelet	PMID:21875409|REF_RGD_ID:10059680
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:1073	renal hypertension		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:12923405|REF_RGD_ID:1302333
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:10763	hypertension		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney	PMID:17977875|REF_RGD_ID:2290351
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:10763	hypertension		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18836702
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:10763	hypertension		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:16840178|REF_RGD_ID:1582612
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:10808	gastric ulcer		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA:increased expression:stomach	PMID:15375341|REF_RGD_ID:10043177
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:10941	intracranial aneurysm		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood vessel	PMID:17569872|REF_RGD_ID:2290352
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:10941	intracranial aneurysm		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:9724118|REF_RGD_ID:1582590
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:10941	intracranial aneurysm	susceptibility	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:16961137|REF_RGD_ID:1582646
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:10964	cholesteatoma of middle ear	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:15620146|REF_RGD_ID:8547870
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30548095
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:17466450|REF_RGD_ID:2290395
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:1115	sarcoma		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:decreased expression:ovary	PMID:21910062|REF_RGD_ID:9999396
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:11830	myopia		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:SNPs:cds, introns:multiple	PMID:20484597|REF_RGD_ID:8549731
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:18585501|REF_RGD_ID:5130889
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:12236	primary biliary cholangitis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:20056896|REF_RGD_ID:8552731
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:12662	paracoccidioidomycosis		ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:19765107|REF_RGD_ID:8657058
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:127	leiomyoma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:myometrium	PMID:17943549|REF_RGD_ID:2290362
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:730822	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased activity:bronchoalveolar lavage fluid	PMID:17254480|REF_RGD_ID:5130726
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:11034943|REF_RGD_ID:1582586
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:16037568|REF_RGD_ID:1582576
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:13001	carotid stenosis		ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:16147977|REF_RGD_ID:1582575
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased activity:kidney	PMID:19357873|REF_RGD_ID:2325738
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:1324	lung cancer		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:13241	Behcet's disease		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:17949555|REF_RGD_ID:8657044
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:13375	temporal arteritis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased activity:temporal artery	PMID:17502363|REF_RGD_ID:8657040
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:13580	cholestasis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:21274875|REF_RGD_ID:8552699
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28789951
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:aorta	PMID:20621845|REF_RGD_ID:5129489
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16159824
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:16159824|REF_RGD_ID:1582608
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23274713
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:14323	Marfan syndrome		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18178469
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:14323	Marfan syndrome		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with thoracic aortic aneurysm;protein:decreased activity:aorta (human)	PMID:16820601|REF_RGD_ID:1582351
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:14323	Marfan syndrome	treatment	ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:18178469|REF_RGD_ID:13204796
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:24966898|REF_RGD_ID:13207311
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:1727	retinal vein occlusion		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1306C>T (rs243865) (human)	PMID:23791966|REF_RGD_ID:8657048
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal mucosa	PMID:21624249|REF_RGD_ID:8657057
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30603057
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas	PMID:7635566|REF_RGD_ID:2325766
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased activity:pancreatic juice	PMID:11961486|REF_RGD_ID:2325752
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:182	calcinosis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15545515|PMID:21193197
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:1909	melanoma		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:1936	atherosclerosis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:16317521|REF_RGD_ID:1582628
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:1936	atherosclerosis	ameliorates	ISO	RGD:730822	D	RGD:9068941	20230330	RGD			PMID:31757932|REF_RGD_ID:242905202
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:20370796|REF_RGD_ID:8657031
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased activity, increased expression:brain	PMID:11592852|REF_RGD_ID:8547930
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:24828425|REF_RGD_ID:8657086
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:2316	brain ischemia		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:15963646|REF_RGD_ID:1582577
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:730821	D	RGD:9068941	20220826	RGD		protein:increased expression:colon (human)	PMID:22419013|REF_RGD_ID:153344572
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:2349	arteriosclerosis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:12526080|REF_RGD_ID:1582580
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:255	hemangioma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:19821096|REF_RGD_ID:8657063
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:2615	papilloma	treatment	ISO	RGD:730822	D	RGD:9068941	20200609	RGD		associated with Skin Neoplasms	PMID:20619141|REF_RGD_ID:8657035
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16901349|REF_RGD_ID:2290349
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:2738	pseudoxanthoma elasticum		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:promoter:multiple	PMID:20541540|REF_RGD_ID:8657064
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:2876	laryngeal squamous cell carcinoma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:17786346|REF_RGD_ID:5130203
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:289	endometriosis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA:increased expression:endometrium	PMID:20056200|REF_RGD_ID:2325695
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:3068	glioblastoma		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16598420
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:3068	glioblastoma	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:brain (human)	PMID:7616276|REF_RGD_ID:7207145
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:3070	high grade glioma	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:19292920|REF_RGD_ID:8657080
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:321	HTLV-1-associated myelopathy/tropical spastic paraparesis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with Sjogren's Syndrome	PMID:10464559|REF_RGD_ID:8657078
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:326	ischemia		ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:12842442|REF_RGD_ID:1582562
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:730822	D	RGD:9068941	20200609	RGD		protein:increased expression:skin of body, spinal cord	PMID:20441996|REF_RGD_ID:13204793
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:332	amyotrophic lateral sclerosis	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, cerebrospinal fluid (human)	PMID:19796283|REF_RGD_ID:7207054
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:3347	osteosarcoma		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25605016
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:3407	carotid artery disease		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:16339461|REF_RGD_ID:1582626
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:3526	cerebral infarction		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16846501
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:3587	pancreatic ductal carcinoma	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:17377415|REF_RGD_ID:2325746
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:730821	D	RGD:9068941	20220526	RGD		protein:increased activity: esophagus	PMID:24789592|REF_RGD_ID:152600903
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21468558
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression, increased activity:lung	PMID:17143501|REF_RGD_ID:5130739
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:4079	heart valve disease		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:24093773|REF_RGD_ID:13204818
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:4448	macular degeneration	no_association	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1306C>T (rs243865) (human)	PMID:23536957|REF_RGD_ID:8657041
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:4448	macular degeneration	susceptibility	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:silent mutation:cds:c.1380G>A (rs2287074) (human)	PMID:18359774|REF_RGD_ID:8657039
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney	PMID:18035688|REF_RGD_ID:2290358
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:17572184|REF_RGD_ID:2290359
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased expression:bile duct	PMID:15213623|REF_RGD_ID:2324667
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:bile duct	PMID:19629755|REF_RGD_ID:2325769
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:730821	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15763341|PMID:26396155
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:5082	liver cirrhosis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23411180|REF_RGD_ID:8657103
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:520	aortic disease		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15545515
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:5517	stomach carcinoma		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased activity:stomach	PMID:20434464|REF_RGD_ID:2325777
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:730821	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma	PMID:28595731
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:576	proteinuria	ameliorates	ISO	RGD:621316	D	RGD:9068941	20231116	RGD		associated with Experimental Diabetes Mellitus;	PMID:37643020|REF_RGD_ID:401827835
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:5773	oral submucous fibrosis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16311067
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:5844	myocardial infarction		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:10773235|PMID:11179039|REF_RGD_ID:1582587|REF_RGD_ID:7207136
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:5844	myocardial infarction		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16310260|PMID:24358288
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:6000	congestive heart failure		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart left ventricle	PMID:10773234|REF_RGD_ID:2290467
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:6000	congestive heart failure		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:heart left ventricle, plasma	PMID:20606426|REF_RGD_ID:8694112
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:6000	congestive heart failure	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:16169329|REF_RGD_ID:1582574
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:6195	conjunctivitis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23378729|REF_RGD_ID:8657047
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:630	genetic disease		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20084675
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16872482
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:15238617|PMID:15300177|PMID:20016209|REF_RGD_ID:1302825|REF_RGD_ID:1582579|REF_RGD_ID:2325698
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:11457749|REF_RGD_ID:1582585
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:7693	abdominal aortic aneurysm	no_association	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:16458924|REF_RGD_ID:1582621
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:7693	abdominal aortic aneurysm	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:21256058|PMID:24484904|REF_RGD_ID:13207313|REF_RGD_ID:8657104
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:783	end stage renal disease		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with Hypertension; protein:increased expression:plasma (human)	PMID:19886850|REF_RGD_ID:7207051
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:820	myocarditis		ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:16533694|REF_RGD_ID:1582352
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:824	periodontitis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased expression: periodontal ligament	PMID:16845949|REF_RGD_ID:2325939
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:8398	osteoarthritis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:synovial fluid (human)	PMID:15194590|REF_RGD_ID:7207131
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:8553	pyoderma gangrenosum		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:skin	PMID:21658319|REF_RGD_ID:8657060
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:869	cholesteatoma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:19484988|REF_RGD_ID:8657059
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:8725	vascular dementia		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:16385583|REF_RGD_ID:1582624
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:8923	skin melanoma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:12404291|PMID:20966734|REF_RGD_ID:13204786|REF_RGD_ID:8657055
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:8923	skin melanoma	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin	PMID:18251742|REF_RGD_ID:8657075
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:8947	diabetic retinopathy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:12714657|REF_RGD_ID:1582582
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:8947	diabetic retinopathy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:18552985|REF_RGD_ID:8547849
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:8991	cervix uteri carcinoma in situ	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:16619570|REF_RGD_ID:2290402
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9000011	Gallbladder Neoplasms	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:gallbladder	PMID:18665467|REF_RGD_ID:2325743
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:24436993|REF_RGD_ID:8657106
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Ductal, Breast	PMID:23280016|REF_RGD_ID:8655998
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with Tongue Neoplasms	PMID:23107277|REF_RGD_ID:8547824
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23323009|REF_RGD_ID:13207328
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9000113	Pneumococcal Meningitis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:24419461|REF_RGD_ID:8657111
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:22475348|REF_RGD_ID:8657107
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9000784	Fibrosis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:20108118|REF_RGD_ID:2325790
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9000918	Disease Progression		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22321834
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:621316	D	RGD:9068941	20230720	RGD		associated with periodontal disease	PMID:33364953|REF_RGD_ID:329956421
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9000955	Acute Otitis Media		ISO	RGD:730822	D	RGD:9068941	20210611	RGD		mRNA:increased expression:middle ear (mouse)	PMID:21889218|REF_RGD_ID:127284853
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Animal;protein:increased expression:brain	PMID:16158251|REF_RGD_ID:8547884
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16475674|PMID:18398872|PMID:21209944|PMID:22321834|PMID:23707804|PMID:30603057
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with Gallbladder Neoplasms; protein:increased expression:gallbladder	PMID:18665467|REF_RGD_ID:2325743
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with pancreatic cancer; protein:increased expression, increased activity:pancreas	PMID:12173379|REF_RGD_ID:2325749
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		mRNA:increased expression:gingival tissues	PMID:21382035|REF_RGD_ID:6480655
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9001004	Chronic Periodontitis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD		associated with Atherosclerosis	PMID:24820783|REF_RGD_ID:13207324
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9001044	Choroidal Neovascularization	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:25314292|REF_RGD_ID:13207327
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9001044	Choroidal Neovascularization	treatment	ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:21666238|REF_RGD_ID:8657062
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9001472	Nasal Polyps		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa	PMID:23064462|REF_RGD_ID:8549735
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9001472	Nasal Polyps	treatment	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:21305560|REF_RGD_ID:8656001
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15095483|PMID:25380136
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:19528495|REF_RGD_ID:2325736
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased activity:liver	PMID:19539802|REF_RGD_ID:2325734
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30603057
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9002165	Diabetic Nephropathies	ameliorates	ISO	RGD:621316	D	RGD:9068941	20231116	RGD			PMID:37643020|REF_RGD_ID:401827835
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:23384615|REF_RGD_ID:13204971
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9002221	Hyperplasia		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19726059|REF_RGD_ID:2325718
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28157488
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1306C>T (human)	PMID:17367869|REF_RGD_ID:13204803
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17440987
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9002484	Maxillary Diseases		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19070762
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9002514	Neointima		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17964422
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9002514	Neointima	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23344254|REF_RGD_ID:13207403
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9002522	Embolism		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:15920147|REF_RGD_ID:1582578
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9002589	Bone Fractures		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:25741868
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10698078
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9002762	Ovarian Neoplasms	susceptibility	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-735C>T	PMID:18424416|REF_RGD_ID:2298519
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:19922364|REF_RGD_ID:2325703
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9002906	Multiple Organ Failure		ISO	RGD:730822	D	RGD:9068941	20200609	RGD		protein:increased activity:liver, spleen (mouse)	PMID:15259001|REF_RGD_ID:7207133
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9003036	Oral Lichen Planus		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:22554030|REF_RGD_ID:8656000
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9003230	Graft Occlusion, Vascular		ISO	RGD:730822	D	RGD:9068941	20200609	RGD		associated with Renal Insufficiency; mRNA:increased expression:arteriovenous fistula (mouse)	PMID:20598569|REF_RGD_ID:7207202
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9003234	Hypertensive Nephropathy	ameliorates	ISO	RGD:621316	D	RGD:9068941	20231116	RGD			PMID:37643020|REF_RGD_ID:401827835
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:16619570|REF_RGD_ID:2290402
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22321834
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9003657	Perennial Allergic Rhinitis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal mucosa:	PMID:19786210|REF_RGD_ID:5130872
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9003819	Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased activity:urine (human)	PMID:17898039|REF_RGD_ID:7207083
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9003870	Herpes Simplex Encephalitis		ISO	RGD:730822	D	RGD:9068941	20200609	RGD		protein:increased activity:brain	PMID:15364410|REF_RGD_ID:8547868
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:16171603|PMID:20515599|REF_RGD_ID:1582570|REF_RGD_ID:2325775
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:16327176|REF_RGD_ID:1582627
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9004080	Aortic Rupture		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18178469
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9004389	Bone Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16475674
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23479197|REF_RGD_ID:8657110
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:730821	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:18398872|PMID:19770485|PMID:22321834|PMID:23707804|PMID:34278709
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23040778|REF_RGD_ID:13207316
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		associated with Hypertension, Renovascular	PMID:23073243|REF_RGD_ID:8657108
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9004657	Weight Gain		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25322899
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9005147	Hydatidiform Mole		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:syncytiotrophoblast cell	PMID:16884384|REF_RGD_ID:2290363
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9005175	Ulcer		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:16934674|REF_RGD_ID:1582595
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9005175	Ulcer		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:12452868|REF_RGD_ID:1582583
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9005207	Nasopharyngeal Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17607721
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased expression:mammary gland	PMID:19725228|REF_RGD_ID:2325823
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28574600
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:23359979|REF_RGD_ID:8657038
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9005372	Inflammation		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24795235
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9005605	Arteriovenous Fistula		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased expression:ileal vein	PMID:17398390|REF_RGD_ID:1642040
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9005605	Arteriovenous Fistula	treatment	ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:23924957|REF_RGD_ID:13204800
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21963884
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9006081	Osteolysis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		OMIM:277950, Winchester syndrome	PMID:16542393|REF_RGD_ID:1601416
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		associated with Hypertension, Pulmonary; protein:increased expression:heart	PMID:17913382|REF_RGD_ID:5130174
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:9327785|REF_RGD_ID:8547910
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9006309	Mandibular Diseases		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19070762
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9006569	Osteolysis Hereditary Multicentric		ISO	RGD:730821	D	RGD:7240710	20180130	OMIM			
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9006569	Osteolysis Hereditary Multicentric		ISO	RGD:730821	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MMP2-related condition | ClinVar Annotator: match by term: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY | ClinVar Annotator: match by term: Multicentric osteolysis nodulosis arthropathy spectrum | ClinVar Annotator: match by term: Multicentric osteolysis, nodulosis, and arthropathy	PMID:17576681|PMID:21421877|PMID:23313298|PMID:23378725|PMID:25741868|PMID:27182040|PMID:28492532|PMID:9536098
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9006832	Puromycin Aminonucleoside Nephrosis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA:increased expression:renal glomerulus (rat)	PMID:9175058|REF_RGD_ID:4144855
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15763341
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9007480	Hyperoxia		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:decreased expression, decreased activity:lung	PMID:15128910|REF_RGD_ID:8547972
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9007590	Gouty Arthritis	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:14687896|REF_RGD_ID:8547877
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9007715	Endometrial Neoplasms	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:17009991|REF_RGD_ID:2290360
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:16699069|REF_RGD_ID:1582614
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23889688|REF_RGD_ID:8657084
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9007871	Malignant Pleural Effusions		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with pleurisy; protein:decreased activity:pleura	PMID:17611666|REF_RGD_ID:5130711
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9007889	Nephrogenic Fibrosing Dermopathy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:skin (human)	PMID:20708474|REF_RGD_ID:7207047
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9007971	Nose Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16178123
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:25741868
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500|PMID:21278247
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9008443	Colorectal Neoplasms	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23149858|REF_RGD_ID:8657112
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9008527	Chlamydophila Infections		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:12526080|REF_RGD_ID:1582580
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9008537	Polypoidal Choroidal Vasculopathy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:23559867|REF_RGD_ID:8547885
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17400654|PMID:17440987
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18398872|PMID:18507500
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1306C>T (human)	PMID:17851253|REF_RGD_ID:8655999
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:17642161|REF_RGD_ID:2290392
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:15538048|REF_RGD_ID:8547818
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:16949931|REF_RGD_ID:2290401
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21091666
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9111	cutaneous leishmaniasis	treatment	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:21091666|REF_RGD_ID:8657030
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:730821	D	RGD:9068941	20220421	RGD		human cells in mouse model	PMID:30789971|REF_RGD_ID:151893289
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9282	ocular hypertension		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:eye	PMID:19575923|REF_RGD_ID:2325732
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (human)	PMID:17320450|REF_RGD_ID:7207195
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9477	pulmonary embolism		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:16304337|REF_RGD_ID:1582630
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9675	pulmonary emphysema		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased activity:lung	PMID:19897563|REF_RGD_ID:4892307
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9675	pulmonary emphysema		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25106431
8804102	Mmp2	matrix metallopeptidase 2	gene	DOID:9743	diabetic neuropathy		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20213226
8804124	Prdx6	peroxiredoxin 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8804124	Prdx6	peroxiredoxin 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8804124	Prdx6	peroxiredoxin 6	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1602898	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
8804124	Prdx6	peroxiredoxin 6	gene	DOID:14250	Down syndrome		ISO	RGD:1602898	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11771762
8804124	Prdx6	peroxiredoxin 6	gene	DOID:2349	arteriosclerosis		ISO	RGD:736132	D	RGD:9068941	20200609	RGD			PMID:15488866|REF_RGD_ID:1580711
8804124	Prdx6	peroxiredoxin 6	gene	DOID:2773	contact dermatitis		ISO	RGD:1602898	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
8804124	Prdx6	peroxiredoxin 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804124	Prdx6	peroxiredoxin 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8804124	Prdx6	peroxiredoxin 6	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1602898	D	RGD:9068941	20200609	RGD		protein:decreased expression:placenta	PMID:25171874|REF_RGD_ID:26884462
8804124	Prdx6	peroxiredoxin 6	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:71005	D	RGD:9068941	20200609	RGD		protein:decreased expression:placenta	PMID:25171874|REF_RGD_ID:26884462
8804124	Prdx6	peroxiredoxin 6	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1602898	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23692979
8804124	Prdx6	peroxiredoxin 6	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1602898	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8804124	Prdx6	peroxiredoxin 6	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps		ISO	RGD:1602898	D	RGD:9068941	20260430	RGD		mRNA:decreased expression:nasal mucosa	PMID:23136082|REF_RGD_ID:645238743
8804124	Prdx6	peroxiredoxin 6	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1602898	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:28492532
8804137	Krt76	keratin 76	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8804137	Krt76	keratin 76	gene	DOID:1115	sarcoma		ISO	RGD:1605387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8804137	Krt76	keratin 76	gene	DOID:4362	cervical cancer		ISO	RGD:1605387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8804137	Krt76	keratin 76	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8804137	Krt76	keratin 76	gene	DOID:5041	esophageal cancer		ISO	RGD:1605387	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8804150	Nphp1	nephrocystin 1	gene	DOID:0050576	Senior-Loken syndrome		ISO	RGD:1317734	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis | ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia	PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16155189|PMID:16199547|PMID:17576681|PMID:17855640|PMID:23559409|PMID:23661369|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26499951|PMID:26920127|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:30108342|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524
8804150	Nphp1	nephrocystin 1	gene	DOID:0050576	Senior-Loken syndrome		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: JUVENILE NEPHRONOPHTHISIS WITH LEBER AMAUROSIS | ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis	PMID:10620543|PMID:10839884|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:23559409|PMID:24746959|PMID:25525159|PMID:25741868|PMID:27004562|PMID:27806791|PMID:28492532|PMID:30108342|PMID:31523374|PMID:32483926|PMID:9536098
8804150	Nphp1	nephrocystin 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1317734	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:23559409|PMID:28002029|PMID:28492532|PMID:34090716
8804150	Nphp1	nephrocystin 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1317734	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:23559409|PMID:25741868|PMID:28002029|PMID:28492532|PMID:34090716
8804150	Nphp1	nephrocystin 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1317734	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:23559409|PMID:25741868|PMID:28002029|PMID:28492532|PMID:33083013|PMID:34031707|PMID:34090716
8804150	Nphp1	nephrocystin 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:23559409|PMID:25741868|PMID:25851290|PMID:28002029|PMID:28492532|PMID:33083013|PMID:34031707|PMID:34090716
8804150	Nphp1	nephrocystin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8804150	Nphp1	nephrocystin 1	gene	DOID:0061277	Senior-Loken syndrome 1		ISO	RGD:1317734	D	RGD:7240710	20190327	OMIM			
8804150	Nphp1	nephrocystin 1	gene	DOID:0061277	Senior-Loken syndrome 1		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Senior-Loken syndrome 1	PMID:10620543|PMID:10839884|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:23559409|PMID:24746959|PMID:25525159|PMID:25741868|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28492532|PMID:30108342|PMID:31523374|PMID:32483926|PMID:9536098
8804150	Nphp1	nephrocystin 1	gene	DOID:0070777	syndromic X-linked intellectual developmental disorder, Snijders Blok type		ISO	RGD:1317734	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Snijders Blok type	PMID:24746959|PMID:25741868|PMID:28492532
8804150	Nphp1	nephrocystin 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1317734	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 1	PMID:24746959|PMID:25741868|PMID:28492532
8804150	Nphp1	nephrocystin 1	gene	DOID:0110999	Joubert syndrome 4		ISO	RGD:1317734	D	RGD:7240710	20180130	OMIM			
8804150	Nphp1	nephrocystin 1	gene	DOID:0110999	Joubert syndrome 4		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 4 | ClinVar Annotator: match by term: Joubert syndrome 4 | ClinVar Annotator: match by term: Joubert syndrome with renal defect	PMID:10620543|PMID:10839884|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:23559409|PMID:24746959|PMID:25525159|PMID:25741868|PMID:27004562|PMID:27806791|PMID:28492532|PMID:30108342|PMID:31523374|PMID:32483926|PMID:37230223|PMID:9536098
8804150	Nphp1	nephrocystin 1	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1317734	D	RGD:7240710	20180130	OMIM			
8804150	Nphp1	nephrocystin 1	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1317734	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:10620543|PMID:10712196|PMID:10839884|PMID:10980528|PMID:11168925|PMID:15138899|PMID:16155189|PMID:16199547|PMID:16762963|PMID:17409309|PMID:17576681|PMID:17855640|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28002029|PMID:28492532|PMID:28559085|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:31345219|PMID:31523374|PMID:31822006|PMID:32483926|PMID:33193692|PMID:33532864|PMID:36090483|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524
8804150	Nphp1	nephrocystin 1	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Juvenile Nephronophthisis | ClinVar Annotator: match by term: NEPHRONOPHTHISIS 1 | ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis | ClinVar Annotator: match by term: nephronophthisis 1	PMID:10620543|PMID:10839884|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:23559409|PMID:24033266|PMID:24746959|PMID:25525159|PMID:25741868|PMID:27004562|PMID:27806791|PMID:28492532|PMID:30108342|PMID:30773290|PMID:31523374|PMID:31822006|PMID:32483926|PMID:33532864|PMID:9326933|PMID:9536098
8804150	Nphp1	nephrocystin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8804150	Nphp1	nephrocystin 1	gene	DOID:1115	sarcoma		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8804150	Nphp1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30773290|PMID:8852662|PMID:9326933|PMID:9536098
8804150	Nphp1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30773290|PMID:8852662|PMID:9326933|PMID:9536098
8804150	Nphp1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098
8804150	Nphp1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098
8804150	Nphp1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:10620543|PMID:10712196|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16155189|PMID:16199547|PMID:16762963|PMID:17409309|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:19755384|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28002029|PMID:28492532|PMID:28559085|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:31822006|PMID:32173348|PMID:32483926|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524
8804150	Nphp1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:10620543|PMID:10712196|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16155189|PMID:16199547|PMID:16762963|PMID:17409309|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:19755384|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28002029|PMID:28492532|PMID:28559085|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:31345219|PMID:31523374|PMID:31822006|PMID:32173348|PMID:32483926|PMID:33193692|PMID:36090483|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524
8804150	Nphp1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16155189|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:19755384|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23559409|PMID:24746959|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27004562|PMID:27806791|PMID:28002029|PMID:28492532|PMID:30108342|PMID:31345219|PMID:31523374|PMID:32173348|PMID:32483926|PMID:33046855|PMID:35858853|PMID:36090483|PMID:37230223|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524
8804150	Nphp1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:19755384|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23559409|PMID:24746959|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27004562|PMID:27806791|PMID:28002029|PMID:28492532|PMID:30108342|PMID:31345219|PMID:31523374|PMID:32173348|PMID:32483926|PMID:33046855|PMID:35858853|PMID:36090483|PMID:37230223|PMID:8852662|PMID:9536098
8804150	Nphp1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:19755384|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23559409|PMID:24746959|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27004562|PMID:27806791|PMID:28002029|PMID:28492532|PMID:30108342|PMID:31345219|PMID:31523374|PMID:32173348|PMID:32483926|PMID:35858853|PMID:36090483|PMID:37230223|PMID:8852662|PMID:9536098
8804150	Nphp1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:19755384|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23559409|PMID:24746959|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27004562|PMID:27806791|PMID:28002029|PMID:28492532|PMID:30108342|PMID:31523374|PMID:32173348|PMID:32483926|PMID:35858853|PMID:36090483|PMID:37230223|PMID:8852662|PMID:9536098
8804150	Nphp1	nephrocystin 1	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:16199547|PMID:23559409|PMID:25741868|PMID:28492532
8804150	Nphp1	nephrocystin 1	gene	DOID:1324	lung cancer		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8804150	Nphp1	nephrocystin 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1317734	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:10839884|PMID:15138899|PMID:25741868|PMID:28492532
8804150	Nphp1	nephrocystin 1	gene	DOID:1826	epilepsy		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16199547|PMID:23559409|PMID:25741868|PMID:28492532
8804150	Nphp1	nephrocystin 1	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1316858|RGD:732435|RGD:1319511|RGD:1603660	D	RGD:9068941	20200609	RGD			PMID:24746959|REF_RGD_ID:11352646
8804150	Nphp1	nephrocystin 1	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1605944	D	RGD:9068941	20200609	RGD			PMID:24746959|REF_RGD_ID:11352646
8804150	Nphp1	nephrocystin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8804150	Nphp1	nephrocystin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317734	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8804150	Nphp1	nephrocystin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804150	Nphp1	nephrocystin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8804150	Nphp1	nephrocystin 1	gene	DOID:630	genetic disease		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8804150	Nphp1	nephrocystin 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8804150	Nphp1	nephrocystin 1	gene	DOID:784	chronic kidney disease		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:16199547|PMID:23559409|PMID:25741868|PMID:28492532
8804150	Nphp1	nephrocystin 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10620543|PMID:10839884|PMID:15138899|PMID:20434703|PMID:21258817|PMID:21658830|PMID:24746959|PMID:25126106|PMID:25401970|PMID:25741868|PMID:26037636|PMID:26092869|PMID:26359340|PMID:26477546|PMID:27491411|PMID:27788217|PMID:28002029|PMID:28041643|PMID:2825423|PMID:28347285|PMID:28492532|PMID:28509138|PMID:29555955|PMID:29654215|PMID:29974258|PMID:30847201|PMID:31402777|PMID:32306954|PMID:33083013|PMID:33306870|PMID:33512896|PMID:33597717|PMID:34013113|PMID:34059960|PMID:34153329|PMID:34246230|PMID:34295353|PMID:35140360|PMID:35368817|PMID:37203120|PMID:8852662
8804150	Nphp1	nephrocystin 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8804150	Nphp1	nephrocystin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8804150	Nphp1	nephrocystin 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:16199547|PMID:23559409|PMID:25741868|PMID:28492532
8804150	Nphp1	nephrocystin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:0061039	autosomal dominant intellectual developmental disorder 66		ISO	RGD:732984	D	RGD:7240710	20220629	OMIM			
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:0061039	autosomal dominant intellectual developmental disorder 66		ISO	RGD:732984	D	RGD:8554872	20250821	ClinVar		ClinVar Annotator: match by term: ATP2B1-related disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 66	PMID:15178683|PMID:25741868|PMID:33057194|PMID:35358416
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:0070060	autosomal dominant intellectual developmental disorder 30		ISO	RGD:732984	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 30	PMID:25741868
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:10534	stomach cancer		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:732984	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:10763	hypertension		ISO	RGD:621303	D	RGD:9068941	20200609	RGD		mRNA:increased expression:vascular associated smooth muscle cell	PMID:20137670|REF_RGD_ID:2317726
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:10763	hypertension		ISO	RGD:732984	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19430479
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:11714	gestational diabetes		ISO	RGD:732984	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:11830	myopia		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:11836	clubfoot		ISO	RGD:732984	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:12849	autistic disorder		ISO	RGD:732984	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:1909	melanoma		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:1969	cerebral palsy		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:2030	anxiety disorder		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:2841	asthma		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:3275	thymoma		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:3393	coronary artery disease		ISO	RGD:732984	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22751097
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:4362	cervical cancer		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:5041	esophageal cancer		ISO	RGD:732984	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:630	genetic disease		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15178683|PMID:25741868|PMID:28492532|PMID:35358416
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:83	cataract		ISO	RGD:732984	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15003327
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:732984	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:35358416
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:33057194|PMID:33077954|PMID:35358416
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9005077	Joint Instability		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9007736	Vertigo		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8804211	Atp2b1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9976	heroin dependence		ISO	RGD:621303	D	RGD:9068941	20241205	RGD		protein:decreased expression:medial prefrontal cortex (rat)	PMID:19160503|REF_RGD_ID:529195970
8804250	Pitpnm1	phosphatidylinositol transfer protein membrane associated 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8804250	Pitpnm1	phosphatidylinositol transfer protein membrane associated 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8804250	Pitpnm1	phosphatidylinositol transfer protein membrane associated 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8804250	Pitpnm1	phosphatidylinositol transfer protein membrane associated 1	gene	DOID:1324	lung cancer		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8804250	Pitpnm1	phosphatidylinositol transfer protein membrane associated 1	gene	DOID:1909	melanoma		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8804250	Pitpnm1	phosphatidylinositol transfer protein membrane associated 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8804250	Pitpnm1	phosphatidylinositol transfer protein membrane associated 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315482	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8804250	Pitpnm1	phosphatidylinositol transfer protein membrane associated 1	gene	DOID:5419	schizophrenia		ISO	RGD:1315482	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
8804250	Pitpnm1	phosphatidylinositol transfer protein membrane associated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804250	Pitpnm1	phosphatidylinositol transfer protein membrane associated 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8804250	Pitpnm1	phosphatidylinositol transfer protein membrane associated 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8804250	Pitpnm1	phosphatidylinositol transfer protein membrane associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8804250	Pitpnm1	phosphatidylinositol transfer protein membrane associated 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8804250	Pitpnm1	phosphatidylinositol transfer protein membrane associated 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8804283	Shroom1	shroom family member 1	gene	DOID:0060058	lymphoma		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8804283	Shroom1	shroom family member 1	gene	DOID:0080600	COVID-19		ISO	RGD:1605292	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8804283	Shroom1	shroom family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1605292	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8804283	Shroom1	shroom family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
8804283	Shroom1	shroom family member 1	gene	DOID:1909	melanoma		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8804283	Shroom1	shroom family member 1	gene	DOID:3275	thymoma		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8804283	Shroom1	shroom family member 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8804283	Shroom1	shroom family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804283	Shroom1	shroom family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8804283	Shroom1	shroom family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8804296	Troap	trophinin associated protein	gene	DOID:0080600	COVID-19		ISO	RGD:1315734	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8804296	Troap	trophinin associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1315734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8804296	Troap	trophinin associated protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8804296	Troap	trophinin associated protein	gene	DOID:1909	melanoma		ISO	RGD:1315734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8804296	Troap	trophinin associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1315734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8804296	Troap	trophinin associated protein	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1315734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8804296	Troap	trophinin associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804296	Troap	trophinin associated protein	gene	DOID:6039	uveal melanoma		ISO	RGD:1315734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8804296	Troap	trophinin associated protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8804296	Troap	trophinin associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315734	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8804296	Troap	trophinin associated protein	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1315734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8804296	Troap	trophinin associated protein	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8804296	Troap	trophinin associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8804296	Troap	trophinin associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1622294	D	RGD:9068941	20200609	RGD			PMID:18952892|REF_RGD_ID:9588548
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320090	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:0060318	acute promyelocytic leukemia	severity	ISO	RGD:1320090	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:peripheral blood, bone marrow, mononuclear cells (human)	PMID:24796963|REF_RGD_ID:9588539
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:0070070	autosomal dominant intellectual developmental disorder 40		ISO	RGD:1320090	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40	PMID:25741868|PMID:28492532
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:0070309	absence epilepsy		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:10283	prostate cancer		ISO	RGD:1320090	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:prostate gland (human)	PMID:24200674|REF_RGD_ID:9587761
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:10534	stomach cancer		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:1059	intellectual disability		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:28492532
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:10907	microcephaly		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:25741869|PMID:28492532
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:10908	hydrocephalus		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:11714	gestational diabetes		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:25741868
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:1240	leukemia		ISO	RGD:1320090	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18818388
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:1283	enterocele		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:12849	autistic disorder		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:1612	breast cancer		ISO	RGD:1320090	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:breast (human)	PMID:23754336|REF_RGD_ID:9588236
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:1826	epilepsy		ISO	RGD:1320090	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:1909	melanoma		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:1969	cerebral palsy		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:2030	anxiety disorder		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:3275	thymoma		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:4362	cervical cancer		ISO	RGD:1320090	D	RGD:9068941	20260709	RGD		human gene in a mouse model	PMID:25172963|REF_RGD_ID:9588553
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:4667	kyphosis		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:25741868
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:5041	esophageal cancer		ISO	RGD:1320090	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1320090	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood, T cell, CD4+ (human)	PMID:16046540|REF_RGD_ID:9588555
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:630	genetic disease		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:31079897|PMID:33004838|PMID:35937050|PMID:36413997|PMID:9536098
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:8692	myeloid leukemia		ISO	RGD:1320090	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18854576
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:8927	learning disability		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9001510	Funnel Chest		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9001581	Constipation		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9001650	Pregnancy-Induced Hypertension		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertension, pregnancy-induced	PMID:25741868
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9001969	O'Donnell-Luria-Rodan Syndrome		ISO	RGD:1320090	D	RGD:7240710	20190918	OMIM			
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9001969	O'Donnell-Luria-Rodan Syndrome		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: KMT2E-related condition | ClinVar Annotator: match by term: O'DONNELL-LURIA-RODAN SYNDROME | ClinVar Annotator: match by term: O'Donnell-Luria-Rodan syndrome	PMID:25741868|PMID:28492532|PMID:31079897|PMID:34321323|PMID:39433808
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9002189	High Myopia		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe myopia	PMID:25741868
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9002594	High Hyperopia		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperopia, high	PMID:25741868
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9003816	Macrocephaly		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320090	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: neurodevelopmental disorder	PMID:25741868|PMID:31079897
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9004507	Hirsutism		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9005077	Joint Instability		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Speech delay	PMID:25741868
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:25741868|PMID:31079897
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9007661	Dwarfism		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9256	colorectal cancer		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8804326	Kmt2e	lysine methyltransferase 2E (inactive)	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus | ClinVar Annotator: match by term: Nystagmus	PMID:25741868
8804357	Znf691	zinc finger protein 691	gene	DOID:5041	esophageal cancer		ISO	RGD:1603045	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8804376	Akap7	A-kinase anchoring protein 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8804376	Akap7	A-kinase anchoring protein 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8804376	Akap7	A-kinase anchoring protein 7	gene	DOID:1324	lung cancer		ISO	RGD:1350760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8804376	Akap7	A-kinase anchoring protein 7	gene	DOID:303	substance-related disorder		ISO	RGD:1350760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8804376	Akap7	A-kinase anchoring protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804376	Akap7	A-kinase anchoring protein 7	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8804376	Akap7	A-kinase anchoring protein 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8804376	Akap7	A-kinase anchoring protein 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8804450	LOC102019456	cytochrome c oxidase assembly protein COX11, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8804450	LOC102019456	cytochrome c oxidase assembly protein COX11, mitochondrial	gene	DOID:0070485	mitochondrial complex IV deficiency nuclear type 23		ISO	RGD:1320366	D	RGD:7240710	20230505	OMIM			
8804450	LOC102019456	cytochrome c oxidase assembly protein COX11, mitochondrial	gene	DOID:0070485	mitochondrial complex IV deficiency nuclear type 23		ISO	RGD:1320366	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 23	PMID:25741868
8804450	LOC102019456	cytochrome c oxidase assembly protein COX11, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1320366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8804450	LOC102019456	cytochrome c oxidase assembly protein COX11, mitochondrial	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1320366	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2	PMID:38922859
8804450	LOC102019456	cytochrome c oxidase assembly protein COX11, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8804462	Selenov	selenoprotein V	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8804462	Selenov	selenoprotein V	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804479	Armc9	armadillo repeat containing 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8804479	Armc9	armadillo repeat containing 9	gene	DOID:0050453	lissencephaly		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrogyria	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
8804479	Armc9	armadillo repeat containing 9	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert Syndrome | ClinVar Annotator: match by term: Joubert syndrome	PMID:25741868|PMID:28492532|PMID:28625504|PMID:31474318
8804479	Armc9	armadillo repeat containing 9	gene	DOID:0050847	sleep apnea		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:25741868
8804479	Armc9	armadillo repeat containing 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8804479	Armc9	armadillo repeat containing 9	gene	DOID:0060260	ptosis		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
8804479	Armc9	armadillo repeat containing 9	gene	DOID:0080275	Joubert syndrome 30		ISO	RGD:1604597	D	RGD:7240710	20190315	OMIM			
8804479	Armc9	armadillo repeat containing 9	gene	DOID:0080275	Joubert syndrome 30		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARMC9-related condition | ClinVar Annotator: match by term: JOUBERT SYNDROME 30 | ClinVar Annotator: match by term: Joubert syndrome 30	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:28625504|PMID:29159890|PMID:31474318|PMID:35186037|PMID:9536098
8804479	Armc9	armadillo repeat containing 9	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:25741868|PMID:28492532|PMID:28625504|PMID:31474318
8804479	Armc9	armadillo repeat containing 9	gene	DOID:10534	stomach cancer		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8804479	Armc9	armadillo repeat containing 9	gene	DOID:1059	intellectual disability		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868
8804479	Armc9	armadillo repeat containing 9	gene	DOID:1115	sarcoma		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8804479	Armc9	armadillo repeat containing 9	gene	DOID:11193	syndactyly		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Syndactyly	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
8804479	Armc9	armadillo repeat containing 9	gene	DOID:11383	cryptorchidism		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
8804479	Armc9	armadillo repeat containing 9	gene	DOID:1143	exotropia		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
8804479	Armc9	armadillo repeat containing 9	gene	DOID:1148	polydactyly		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
8804479	Armc9	armadillo repeat containing 9	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
8804479	Armc9	armadillo repeat containing 9	gene	DOID:1324	lung cancer		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8804479	Armc9	armadillo repeat containing 9	gene	DOID:1909	melanoma		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8804479	Armc9	armadillo repeat containing 9	gene	DOID:2340	craniosynostosis		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
8804479	Armc9	armadillo repeat containing 9	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1604597	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:25741868|PMID:28492532|PMID:28625504|PMID:31474318
8804479	Armc9	armadillo repeat containing 9	gene	DOID:3310	atopic dermatitis		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dermatitis, atopic	PMID:25741868
8804479	Armc9	armadillo repeat containing 9	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
8804479	Armc9	armadillo repeat containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804479	Armc9	armadillo repeat containing 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8804479	Armc9	armadillo repeat containing 9	gene	DOID:630	genetic disease		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8804479	Armc9	armadillo repeat containing 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8804479	Armc9	armadillo repeat containing 9	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
8804479	Armc9	armadillo repeat containing 9	gene	DOID:9000343	Vision Disorders		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
8804479	Armc9	armadillo repeat containing 9	gene	DOID:9001118	Equinus Deformity		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Talipes equinovalgus	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
8804479	Armc9	armadillo repeat containing 9	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8804479	Armc9	armadillo repeat containing 9	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	PMID:25741868
8804479	Armc9	armadillo repeat containing 9	gene	DOID:9003133	Hypertelorism		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8804479	Armc9	armadillo repeat containing 9	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
8804479	Armc9	armadillo repeat containing 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8804479	Armc9	armadillo repeat containing 9	gene	DOID:9007661	Dwarfism		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
8804479	Armc9	armadillo repeat containing 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8804479	Armc9	armadillo repeat containing 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8804479	Armc9	armadillo repeat containing 9	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
8804479	Armc9	armadillo repeat containing 9	gene	DOID:9837	hypertropia		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertropia	PMID:25741868
8804517	Nos1	nitric oxide synthase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:619551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8804517	Nos1	nitric oxide synthase 1	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25511929
8804517	Nos1	nitric oxide synthase 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:3184	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased expression:cardiomyocyte	PMID:17721248|REF_RGD_ID:1642134
8804517	Nos1	nitric oxide synthase 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:619551	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	
8804517	Nos1	nitric oxide synthase 1	gene	DOID:0051061	stroke		ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:19408167|REF_RGD_ID:5132594
8804517	Nos1	nitric oxide synthase 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:619551	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8804517	Nos1	nitric oxide synthase 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:23967645|REF_RGD_ID:7257596
8804517	Nos1	nitric oxide synthase 1	gene	DOID:0080998	acute necrotizing pancreatitis	treatment	ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:23300603|REF_RGD_ID:7257665
8804517	Nos1	nitric oxide synthase 1	gene	DOID:10534	stomach cancer		ISO	RGD:619551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8804517	Nos1	nitric oxide synthase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:619551	D	RGD:9068941	20200609	RGD			PMID:10964481|PMID:12384247|REF_RGD_ID:13824976|REF_RGD_ID:13824978
8804517	Nos1	nitric oxide synthase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:619551	D	RGD:9068941	20200609	RGD		DNA:repeat:exon	PMID:17418914|REF_RGD_ID:13824975
8804517	Nos1	nitric oxide synthase 1	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:619551	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:-84G>A (human)	PMID:17418914|REF_RGD_ID:13824975
8804517	Nos1	nitric oxide synthase 1	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:619551	D	RGD:9068941	20200609	RGD		DNA:repeat:promoter	PMID:21098972|REF_RGD_ID:13824974
8804517	Nos1	nitric oxide synthase 1	gene	DOID:10762	portal hypertension	treatment	ISO	RGD:3184	D	RGD:9068941	20200609	RGD		associated with liver cirrhosis	PMID:10727442|REF_RGD_ID:13824993
8804517	Nos1	nitric oxide synthase 1	gene	DOID:10763	hypertension		ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:15775788|PMID:15913838|PMID:16093913|PMID:20494920|REF_RGD_ID:1581141|REF_RGD_ID:1581142|REF_RGD_ID:1581143|REF_RGD_ID:5132600
8804517	Nos1	nitric oxide synthase 1	gene	DOID:10763	hypertension		ISO	RGD:3184	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:bladder, penis	PMID:17574276|REF_RGD_ID:1642127
8804517	Nos1	nitric oxide synthase 1	gene	DOID:10763	hypertension	treatment	ISO	RGD:3184	D	RGD:9068941	20230824	RGD			PMID:23201071|PMID:31489946|REF_RGD_ID:401793758|REF_RGD_ID:7257668
8804517	Nos1	nitric oxide synthase 1	gene	DOID:10941	intracranial aneurysm		ISO	RGD:10991	D	RGD:9068941	20200609	RGD			PMID:21321533|REF_RGD_ID:5131897
8804517	Nos1	nitric oxide synthase 1	gene	DOID:1115	sarcoma		ISO	RGD:619551	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8804517	Nos1	nitric oxide synthase 1	gene	DOID:11723	Duchenne muscular dystrophy		ISO	RGD:619551	D	RGD:9068941	20200609	RGD			PMID:9542584|REF_RGD_ID:13825135
8804517	Nos1	nitric oxide synthase 1	gene	DOID:11832	visual epilepsy		ISO	RGD:619551	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:8749039
8804517	Nos1	nitric oxide synthase 1	gene	DOID:1184	nephrotic syndrome		ISO	RGD:3184	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney	PMID:12853118|REF_RGD_ID:1642133
8804517	Nos1	nitric oxide synthase 1	gene	DOID:12577	urethral obstruction		ISO	RGD:3184	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder	PMID:23766828|REF_RGD_ID:7257604
8804517	Nos1	nitric oxide synthase 1	gene	DOID:12638	hypertrophic pyloric stenosis		ISO	RGD:10991	D	RGD:9068941	20220825	MouseDO		OMIM:179010 | OMIM:300711 | OMIM:610260 | OMIM:612017 | OMIM:612525	
8804517	Nos1	nitric oxide synthase 1	gene	DOID:12935	alcoholic cardiomyopathy		ISO	RGD:3184	D	RGD:9068941	20200609	RGD		protein:decreased expression:skeletal muscle, membrane	PMID:17607508|REF_RGD_ID:1642138
8804517	Nos1	nitric oxide synthase 1	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:3184	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:23204802|REF_RGD_ID:7257667
8804517	Nos1	nitric oxide synthase 1	gene	DOID:13413	hepatic encephalopathy		ISO	RGD:3184	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:19763802|REF_RGD_ID:5132590
8804517	Nos1	nitric oxide synthase 1	gene	DOID:13413	hepatic encephalopathy		ISO	RGD:3184	D	RGD:9068941	20200609	RGD		protein:increased expression:neocortex	PMID:17083474|REF_RGD_ID:1642151
8804517	Nos1	nitric oxide synthase 1	gene	DOID:13413	hepatic encephalopathy		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10206825|PMID:10564534
8804517	Nos1	nitric oxide synthase 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26383258
8804517	Nos1	nitric oxide synthase 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:619551	D	RGD:9068941	20200609	RGD			PMID:11809160|REF_RGD_ID:1358519
8804517	Nos1	nitric oxide synthase 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:619551	D	RGD:9068941	20200609	RGD		RNA, protein:increased expression:neutrophil	PMID:11020342|REF_RGD_ID:5132632
8804517	Nos1	nitric oxide synthase 1	gene	DOID:1470	major depressive disorder		ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:25001963|REF_RGD_ID:13825137
8804517	Nos1	nitric oxide synthase 1	gene	DOID:1485	cystic fibrosis		ISO	RGD:619551	D	RGD:9068941	20200609	RGD			PMID:11890749|REF_RGD_ID:5132868
8804517	Nos1	nitric oxide synthase 1	gene	DOID:1485	cystic fibrosis	disease_progression	ISO	RGD:619551	D	RGD:9068941	20200609	RGD		DNA:repeats:5'utr	PMID:14760158|REF_RGD_ID:5132627
8804517	Nos1	nitric oxide synthase 1	gene	DOID:150	disease of mental health		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17426488
8804517	Nos1	nitric oxide synthase 1	gene	DOID:1591	renovascular hypertension		ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:16788145|REF_RGD_ID:1642130
8804517	Nos1	nitric oxide synthase 1	gene	DOID:1596	depressive disorder		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17854383
8804517	Nos1	nitric oxide synthase 1	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:20571741|REF_RGD_ID:13824995
8804517	Nos1	nitric oxide synthase 1	gene	DOID:1824	status epilepticus		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20149694
8804517	Nos1	nitric oxide synthase 1	gene	DOID:1875	impotence		ISO	RGD:3184	D	RGD:9068941	20200609	RGD		associated with Urethral Obstruction;protein:decreased expression:penis erectile tissue	PMID:23535456|REF_RGD_ID:7257656
8804517	Nos1	nitric oxide synthase 1	gene	DOID:1875	impotence	treatment	ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:23522997|REF_RGD_ID:7257657
8804517	Nos1	nitric oxide synthase 1	gene	DOID:1875	impotence	treatment	ISO	RGD:3184	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:23698784|REF_RGD_ID:7244246
8804517	Nos1	nitric oxide synthase 1	gene	DOID:1909	melanoma		ISO	RGD:619551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8804517	Nos1	nitric oxide synthase 1	gene	DOID:2074	intestinal perforation		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18030227
8804517	Nos1	nitric oxide synthase 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3184	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:dentate gyrus	PMID:23806217|REF_RGD_ID:7257600
8804517	Nos1	nitric oxide synthase 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3184	D	RGD:9068941	20250130	RGD		protein:altered expression:hippocampus :	PMID:26607632|REF_RGD_ID:597538583
8804517	Nos1	nitric oxide synthase 1	gene	DOID:231	motor neuron disease		ISO	RGD:619551	D	RGD:9068941	20200609	RGD		protein:decreased expression;motor neuron	PMID:12200626|REF_RGD_ID:5132629
8804517	Nos1	nitric oxide synthase 1	gene	DOID:2316	brain ischemia		ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:17451676|REF_RGD_ID:1642142
8804517	Nos1	nitric oxide synthase 1	gene	DOID:2316	brain ischemia		ISO	RGD:3184	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus	PMID:21718970|REF_RGD_ID:6480433
8804517	Nos1	nitric oxide synthase 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:10991	D	RGD:9068941	20200609	RGD			PMID:16627802|REF_RGD_ID:1642131
8804517	Nos1	nitric oxide synthase 1	gene	DOID:2560	morphine dependence		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17989510
8804517	Nos1	nitric oxide synthase 1	gene	DOID:2786	cerebellar disease		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25511929
8804517	Nos1	nitric oxide synthase 1	gene	DOID:2841	asthma		ISO	RGD:619551	D	RGD:9068941	20200609	RGD		DNA:repeats:exon	PMID:10833424|REF_RGD_ID:5132860
8804517	Nos1	nitric oxide synthase 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:619551	D	RGD:9068941	20200609	RGD		DNA:repeats:intron	PMID:14767694|PMID:20609134|REF_RGD_ID:5132615|REF_RGD_ID:5132863
8804517	Nos1	nitric oxide synthase 1	gene	DOID:3021	acute kidney failure		ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:14531809|REF_RGD_ID:13825139
8804517	Nos1	nitric oxide synthase 1	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:619551	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:19797159|REF_RGD_ID:5132607
8804517	Nos1	nitric oxide synthase 1	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:619551	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle	PMID:12816735|REF_RGD_ID:5132628
8804517	Nos1	nitric oxide synthase 1	gene	DOID:3275	thymoma		ISO	RGD:619551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8804517	Nos1	nitric oxide synthase 1	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:3184	D	RGD:9068941	20200609	RGD		protein:increased expression:forebrain, postsynaptic density	PMID:11226670|REF_RGD_ID:5147998
8804517	Nos1	nitric oxide synthase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:619551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8804517	Nos1	nitric oxide synthase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:619551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8804517	Nos1	nitric oxide synthase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:619551	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8804517	Nos1	nitric oxide synthase 1	gene	DOID:5419	schizophrenia		ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:20802999|REF_RGD_ID:5131923
8804517	Nos1	nitric oxide synthase 1	gene	DOID:5419	schizophrenia		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18923069
8804517	Nos1	nitric oxide synthase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:619551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8804517	Nos1	nitric oxide synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:619551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804517	Nos1	nitric oxide synthase 1	gene	DOID:6000	congestive heart failure		ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:15466641|PMID:23832698|REF_RGD_ID:1581144|REF_RGD_ID:7257598
8804517	Nos1	nitric oxide synthase 1	gene	DOID:670	amphetamine abuse		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15542708
8804517	Nos1	nitric oxide synthase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:619551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8804517	Nos1	nitric oxide synthase 1	gene	DOID:783	end stage renal disease		ISO	RGD:3184	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney cortex	PMID:17200156|REF_RGD_ID:1642147
8804517	Nos1	nitric oxide synthase 1	gene	DOID:783	end stage renal disease	treatment	ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:23185775|REF_RGD_ID:7257669
8804517	Nos1	nitric oxide synthase 1	gene	DOID:863	nervous system disease		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9495865
8804517	Nos1	nitric oxide synthase 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:3184	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:retina	PMID:17545029|REF_RGD_ID:1642141
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:20633123|REF_RGD_ID:5131936
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:3184	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:19291395|REF_RGD_ID:5132595
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9000564	Prehypertension		ISO	RGD:3184	D	RGD:9068941	20200609	RGD		protein:decreased expression:stellate interneuron	PMID:23172925|REF_RGD_ID:7257670
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9000855	Experimental Radiation Injuries		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20726721
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9000972	Fever		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9495865
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9001234	Prenatal Exposure Delayed Effects	treatment	ISO	RGD:3184	D	RGD:9068941	20230824	RGD			PMID:31489946|REF_RGD_ID:401793758
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9001488	Human Influenza		ISO	RGD:10991	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus	PMID:9552178|REF_RGD_ID:5132870
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:3184	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:10966937|REF_RGD_ID:13824991
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:3184	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:23548923|REF_RGD_ID:7257655
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:23909597|REF_RGD_ID:7257597
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19300402
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:3184	D	RGD:9068941	20200609	RGD		associated with hyperinsulinemia; protein:decreased expression:placenta	PMID:19709742|REF_RGD_ID:5132592
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9002283	Experimental Allergic Asthma		ISO	RGD:10991	D	RGD:9068941	20251213	RGD		protein:increased expression:lung	PMID:19286931|REF_RGD_ID:5132864
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9002320	Neurobehavioral Manifestations		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25511929
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9002669	Hypoxia		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10956627
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10791088|PMID:9436549
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9003420	Carbon Monoxide Poisoning		ISO	RGD:10991	D	RGD:9068941	20200609	RGD			PMID:14761684|REF_RGD_ID:13825130
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9003420	Carbon Monoxide Poisoning		ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:14761684|REF_RGD_ID:13825130
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9003919	Urination Disorders		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9142130
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:17673519|REF_RGD_ID:1642136
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:17451676|REF_RGD_ID:1642142
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9004484	Sepsis		ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:17191663|REF_RGD_ID:1642148
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9004649	Heat Stroke		ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:16950411|REF_RGD_ID:1642129
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:619551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3184	D	RGD:9068941	20200609	RGD		protein:decreased dimerization:stomach	PMID:17347455|REF_RGD_ID:1642144
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9005968	Neuralgia	treatment	ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:23342771|REF_RGD_ID:7257658
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9006062	Nervous System Trauma		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10531423
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:17913382|REF_RGD_ID:5130174
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16344403
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9007877	Fetal Hypoxia		ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:17310378|REF_RGD_ID:1642145
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9007993	Dehydration		ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:16052497|REF_RGD_ID:13825136
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9007996	End Stage Liver Disease		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15025246
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:3184	D	RGD:9068941	20200609	RGD		associated with Status Epilepticus	PMID:17549628|REF_RGD_ID:1642140
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:619551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9164	achalasia		ISO	RGD:10991	D	RGD:9068941	20220825	MouseDO		OMIM:200400	
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:16323284|REF_RGD_ID:1581689
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9415	allergic asthma		ISO	RGD:619551	D	RGD:9068941	20251204	RGD		DNA:VNTR:intron	PMID:10673365|REF_RGD_ID:5132869
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:619551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21666113
8804517	Nos1	nitric oxide synthase 1	gene	DOID:9970	obesity		ISO	RGD:3184	D	RGD:9068941	20200609	RGD			PMID:16316351|REF_RGD_ID:1642132
8804558	Apoa4	apolipoprotein A4	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood plasma (human)	PMID:11555832|REF_RGD_ID:5685680
8804558	Apoa4	apolipoprotein A4	gene	DOID:0060180	colitis		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		human protein in mouse model	PMID:15254593|REF_RGD_ID:5685667
8804558	Apoa4	apolipoprotein A4	gene	DOID:0061121	autosomal dominant tubulointerstitial kidney disease 6		ISO	RGD:737553	D	RGD:7240710	20250305	OMIM			
8804558	Apoa4	apolipoprotein A4	gene	DOID:0061121	autosomal dominant tubulointerstitial kidney disease 6		ISO	RGD:737553	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: APOA4-related disorder | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 6	PMID:25741868|PMID:28492532
8804558	Apoa4	apolipoprotein A4	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:blood serum (human)	PMID:19379511|REF_RGD_ID:5685691
8804558	Apoa4	apolipoprotein A4	gene	DOID:10652	Alzheimer's disease		ISO	RGD:734420	D	RGD:9068941	20200609	RGD			PMID:21356380|REF_RGD_ID:5685638
8804558	Apoa4	apolipoprotein A4	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.Q360H (human)	PMID:9272683|REF_RGD_ID:5685681
8804558	Apoa4	apolipoprotein A4	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		DNA:snp, haplotype:cds:p.S147N (rs5104) (human)	PMID:16013913|REF_RGD_ID:5685661
8804558	Apoa4	apolipoprotein A4	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:737553	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.Q360H (human)	PMID:10559562|REF_RGD_ID:5685682
8804558	Apoa4	apolipoprotein A4	gene	DOID:12842	Guillain-Barre syndrome		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:18343991|REF_RGD_ID:5685658
8804558	Apoa4	apolipoprotein A4	gene	DOID:12858	Huntington's disease		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:21297956|REF_RGD_ID:5147768
8804558	Apoa4	apolipoprotein A4	gene	DOID:1287	cardiovascular system disease		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood plasma (human)	PMID:21569504|REF_RGD_ID:5685637
8804558	Apoa4	apolipoprotein A4	gene	DOID:1389	polyneuropathy		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:19589605|REF_RGD_ID:5685648
8804558	Apoa4	apolipoprotein A4	gene	DOID:1470	major depressive disorder		ISO	RGD:2132	D	RGD:9068941	20200609	RGD		protein:increased expression:blood serum (rat)	PMID:20580919|REF_RGD_ID:5128563
8804558	Apoa4	apolipoprotein A4	gene	DOID:1686	glaucoma		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		Primary Congenital Glaucoma; protein:increased expression:aqueous humor (human)	PMID:21078314|REF_RGD_ID:5685641
8804558	Apoa4	apolipoprotein A4	gene	DOID:1936	atherosclerosis		ISO	RGD:737553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15822908
8804558	Apoa4	apolipoprotein A4	gene	DOID:2355	anemia		ISO	RGD:734420	D	RGD:9068941	20200609	RGD		associated with Inflammation; protein:increased expression:blood plasma (mouse)	PMID:22146476|REF_RGD_ID:5685688
8804558	Apoa4	apolipoprotein A4	gene	DOID:2378	relapsing-remitting multiple sclerosis	onset	ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebrospinal fluid (human)	PMID:19383442|REF_RGD_ID:5685649
8804558	Apoa4	apolipoprotein A4	gene	DOID:5327	retinal detachment		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous humor (human)	PMID:19081814|REF_RGD_ID:5685692
8804558	Apoa4	apolipoprotein A4	gene	DOID:5419	schizophrenia		ISO	RGD:737553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25821032
8804558	Apoa4	apolipoprotein A4	gene	DOID:5419	schizophrenia		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebrospinal fluid (human)	PMID:12836058|REF_RGD_ID:5685679
8804558	Apoa4	apolipoprotein A4	gene	DOID:574	peripheral nervous system disease		ISO	RGD:734420	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (mouse)	PMID:2050689|REF_RGD_ID:5685702
8804558	Apoa4	apolipoprotein A4	gene	DOID:5844	myocardial infarction	no_association	ISO	RGD:737553	D	RGD:9068941	20200609	RGD		DNA:mutation:intron:IVS2 (human)	PMID:10428310|REF_RGD_ID:1578442
8804558	Apoa4	apolipoprotein A4	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:737553	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.Q360H (human)	PMID:7958503|REF_RGD_ID:5685678
8804558	Apoa4	apolipoprotein A4	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:737553	D	RGD:9068941	20220908	RGD		associated with hepatitis B;	PMID:31211449|REF_RGD_ID:153350082
8804558	Apoa4	apolipoprotein A4	gene	DOID:705	Leber hereditary optic neuropathy		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:18061280|REF_RGD_ID:5685659
8804558	Apoa4	apolipoprotein A4	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:blood serum (human)	PMID:20367977|REF_RGD_ID:5685646
8804558	Apoa4	apolipoprotein A4	gene	DOID:784	chronic kidney disease	disease_progression	ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:blood plasma (human)	PMID:21569504|REF_RGD_ID:5685637
8804558	Apoa4	apolipoprotein A4	gene	DOID:8577	ulcerative colitis		ISO	RGD:737553	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35999755
8804558	Apoa4	apolipoprotein A4	gene	DOID:8577	ulcerative colitis	severity	ISO	RGD:737553	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.Q360H (human)	PMID:17206692|REF_RGD_ID:5685660
8804558	Apoa4	apolipoprotein A4	gene	DOID:8778	Crohn's disease	severity	ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood plasma (human)	PMID:17206692|REF_RGD_ID:5685660
8804558	Apoa4	apolipoprotein A4	gene	DOID:8805	intermediate coronary syndrome		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood plasma (human)	PMID:20367977|REF_RGD_ID:5685646
8804558	Apoa4	apolipoprotein A4	gene	DOID:8947	diabetic retinopathy		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous humor (human)	PMID:19081814|REF_RGD_ID:5685692
8804558	Apoa4	apolipoprotein A4	gene	DOID:9000528	Coronary Disease	no_association	ISO	RGD:737553	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.T347S (human)	PMID:9013087|REF_RGD_ID:5685683
8804558	Apoa4	apolipoprotein A4	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:737553	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.T347S (human)	PMID:12676816|REF_RGD_ID:1578411
8804558	Apoa4	apolipoprotein A4	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:2132	D	RGD:9068941	20200609	RGD		protein:increased expression:sciatic nerve (rat)	PMID:2120218|REF_RGD_ID:2311210
8804558	Apoa4	apolipoprotein A4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8804558	Apoa4	apolipoprotein A4	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:737553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11420682
8804558	Apoa4	apolipoprotein A4	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2132	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood serum (rat)	PMID:10892728|REF_RGD_ID:5685694
8804558	Apoa4	apolipoprotein A4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas, carcinoma (human)	PMID:16815451|REF_RGD_ID:5685662
8804558	Apoa4	apolipoprotein A4	gene	DOID:9005372	Inflammation		ISO	RGD:2132	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood serum (rat)	PMID:10892728|REF_RGD_ID:5685694
8804558	Apoa4	apolipoprotein A4	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:737553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16030523
8804558	Apoa4	apolipoprotein A4	gene	DOID:9006086	Intervertebral Disc Displacement		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:16372267|REF_RGD_ID:5685665
8804558	Apoa4	apolipoprotein A4	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		human gene in mouse model	PMID:2167514|REF_RGD_ID:5685672
8804558	Apoa4	apolipoprotein A4	gene	DOID:9007571	Hyperlipoproteinemias		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:blood plasma (human)	PMID:226830|REF_RGD_ID:5685673
8804558	Apoa4	apolipoprotein A4	gene	DOID:9008103	Seasonal Allergic Rhinitis	resistance	ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:blood serum (human)	PMID:20810159|REF_RGD_ID:5685642
8804558	Apoa4	apolipoprotein A4	gene	DOID:9008261	Chemically-Induced Disorders		ISO	RGD:737553	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35999755
8804558	Apoa4	apolipoprotein A4	gene	DOID:9719	neovascular inflammatory vitreoretinopathy		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous humor (human)	PMID:19081814|REF_RGD_ID:5685692
8804597	Mettl24	methyltransferase like 24	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8804597	Mettl24	methyltransferase like 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8804597	Mettl24	methyltransferase like 24	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8804597	Mettl24	methyltransferase like 24	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8804597	Mettl24	methyltransferase like 24	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8804605	Cfap96	cilia and flagella associated protein 96	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2298813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8804605	Cfap96	cilia and flagella associated protein 96	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:40903117	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1	PMID:25741868|PMID:28492532|PMID:33473208
8804605	Cfap96	cilia and flagella associated protein 96	gene	DOID:1059	intellectual disability		ISO	RGD:2298813	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:12750988|PMID:16420521|PMID:25741868|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30230413|PMID:33473208|PMID:34746046|PMID:9312167
8804605	Cfap96	cilia and flagella associated protein 96	gene	DOID:1059	intellectual disability		ISO	RGD:2298813	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868|PMID:28492532|PMID:33473208
8804605	Cfap96	cilia and flagella associated protein 96	gene	DOID:5041	esophageal cancer		ISO	RGD:2298813	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8804605	Cfap96	cilia and flagella associated protein 96	gene	DOID:9256	colorectal cancer		ISO	RGD:2298813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:12849	autistic disorder		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:1826	epilepsy		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:4195	hyperglycemia		ISO	RGD:1320567	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18056790
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:630	genetic disease		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:9005616	Micrognathism		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SIM1-associated metabolic syndrome	
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1320567	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15818620
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:21512513|PMID:2152513|PMID:23778139|PMID:25234154|PMID:25741868|PMID:28492532
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:9970	obesity		ISO	RGD:1320567	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency | ClinVar Annotator: match by term: SIM1-related condition | ClinVar Annotator: match by term: UCP3-related condition	PMID:16924270|PMID:19401419|PMID:21512513|PMID:2152513|PMID:23778136|PMID:23778139|PMID:24097297|PMID:25234154|PMID:25741868|PMID:26795956|PMID:28492532|PMID:29216354|PMID:30991789
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:9970	obesity		ISO	RGD:1320567	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency | ClinVar Annotator: match by term: SIM1-related condition	PMID:16924270|PMID:19401419|PMID:21512513|PMID:2152513|PMID:23778136|PMID:23778139|PMID:24097297|PMID:25234154|PMID:25741868|PMID:26795956|PMID:28492532|PMID:29216354|PMID:30991789|PMID:33434169
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:9970	obesity		ISO	RGD:1320567	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency | ClinVar Annotator: match by term: SIM1-related condition	PMID:16924270|PMID:19401419|PMID:21512513|PMID:2152513|PMID:23778136|PMID:23778139|PMID:24097297|PMID:25234154|PMID:25741868|PMID:26795956|PMID:28492532|PMID:29216354|PMID:30926952|PMID:30991789|PMID:33434169
8804625	Sim1	SIM bHLH transcription factor 1	gene	DOID:9970	obesity		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency | ClinVar Annotator: match by term: SIM1-related condition	PMID:16924270|PMID:23778136|PMID:23778139|PMID:24097297|PMID:25741868|PMID:26795956|PMID:28492532|PMID:29216354|PMID:30926952|PMID:30991789|PMID:33434169|PMID:37329217
8804641	Ly6h	lymphocyte antigen 6 family member H	gene	DOID:10534	stomach cancer		ISO	RGD:1323593	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8804641	Ly6h	lymphocyte antigen 6 family member H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323593	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804657	Arhgap27	Rho GTPase activating protein 27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8804657	Arhgap27	Rho GTPase activating protein 27	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8804657	Arhgap27	Rho GTPase activating protein 27	gene	DOID:1115	sarcoma		ISO	RGD:1346833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8804657	Arhgap27	Rho GTPase activating protein 27	gene	DOID:1909	melanoma		ISO	RGD:1346833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8804657	Arhgap27	Rho GTPase activating protein 27	gene	DOID:3070	high grade glioma		ISO	RGD:1346833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8804657	Arhgap27	Rho GTPase activating protein 27	gene	DOID:3275	thymoma		ISO	RGD:1346833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8804657	Arhgap27	Rho GTPase activating protein 27	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8804657	Arhgap27	Rho GTPase activating protein 27	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8804657	Arhgap27	Rho GTPase activating protein 27	gene	DOID:4362	cervical cancer		ISO	RGD:1346833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8804657	Arhgap27	Rho GTPase activating protein 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804657	Arhgap27	Rho GTPase activating protein 27	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8804657	Arhgap27	Rho GTPase activating protein 27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8804657	Arhgap27	Rho GTPase activating protein 27	gene	DOID:9256	colorectal cancer		ISO	RGD:1346833	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8804680	Ufsp2	UFM1 specific peptidase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8804680	Ufsp2	UFM1 specific peptidase 2	gene	DOID:0070392	developmental and epileptic encephalopathy 106		ISO	RGD:1605068	D	RGD:7240710	20220921	OMIM			
8804680	Ufsp2	UFM1 specific peptidase 2	gene	DOID:0070392	developmental and epileptic encephalopathy 106		ISO	RGD:1605068	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 106	PMID:25741868
8804680	Ufsp2	UFM1 specific peptidase 2	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1605068	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1	PMID:25741868|PMID:28492532|PMID:33473208
8804680	Ufsp2	UFM1 specific peptidase 2	gene	DOID:0111367	Beukes hip dysplasia		ISO	RGD:1605068	D	RGD:7240710	20180130	OMIM			
8804680	Ufsp2	UFM1 specific peptidase 2	gene	DOID:0111367	Beukes hip dysplasia		ISO	RGD:1605068	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hip dysplasia, Beukes type	
8804680	Ufsp2	UFM1 specific peptidase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8804680	Ufsp2	UFM1 specific peptidase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8804680	Ufsp2	UFM1 specific peptidase 2	gene	DOID:9002016	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE		ISO	RGD:1605068	D	RGD:7240710	20190724	OMIM			
8804680	Ufsp2	UFM1 specific peptidase 2	gene	DOID:9002016	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE		ISO	RGD:1605068	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type	PMID:21228277|PMID:25741868|PMID:28892125
8804680	Ufsp2	UFM1 specific peptidase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8804680	Ufsp2	UFM1 specific peptidase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8804705	Dis3	DIS3 exosome endoribonuclease and 3''-5'' exoribonuclease	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8804705	Dis3	DIS3 exosome endoribonuclease and 3''-5'' exoribonuclease	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8804705	Dis3	DIS3 exosome endoribonuclease and 3''-5'' exoribonuclease	gene	DOID:0060476	Perlman syndrome		ISO	RGD:1312206	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism	PMID:25741868
8804705	Dis3	DIS3 exosome endoribonuclease and 3''-5'' exoribonuclease	gene	DOID:0080906	CNS neuroblastoma with FOXR2 activation		ISO	RGD:1312206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cns neuroblastoma with FOXR2 activation	PMID:20531386|PMID:23917401|PMID:24705251|PMID:26046463|PMID:26193331|PMID:27993330|PMID:33147539|PMID:35617957
8804705	Dis3	DIS3 exosome endoribonuclease and 3''-5'' exoribonuclease	gene	DOID:1115	sarcoma		ISO	RGD:1312206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8804705	Dis3	DIS3 exosome endoribonuclease and 3''-5'' exoribonuclease	gene	DOID:1324	lung cancer		ISO	RGD:1312206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:30967618|PMID:36835493
8804705	Dis3	DIS3 exosome endoribonuclease and 3''-5'' exoribonuclease	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1312206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:20531386|PMID:24150935|PMID:35101336
8804705	Dis3	DIS3 exosome endoribonuclease and 3''-5'' exoribonuclease	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8804705	Dis3	DIS3 exosome endoribonuclease and 3''-5'' exoribonuclease	gene	DOID:4362	cervical cancer		ISO	RGD:1312206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8804705	Dis3	DIS3 exosome endoribonuclease and 3''-5'' exoribonuclease	gene	DOID:5041	esophageal cancer		ISO	RGD:1312206	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8804705	Dis3	DIS3 exosome endoribonuclease and 3''-5'' exoribonuclease	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804705	Dis3	DIS3 exosome endoribonuclease and 3''-5'' exoribonuclease	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8804705	Dis3	DIS3 exosome endoribonuclease and 3''-5'' exoribonuclease	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:30967618|PMID:36835493
8804705	Dis3	DIS3 exosome endoribonuclease and 3''-5'' exoribonuclease	gene	DOID:9538	multiple myeloma		ISO	RGD:1312206	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
8804737	Smim15	small integral membrane protein 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2293892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8804791	Per3	period circadian regulator 3	gene	DOID:0050628	advanced sleep phase syndrome		ISO	RGD:1352533	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: advanced sleep phase syndrome	PMID:25741868
8804791	Per3	period circadian regulator 3	gene	DOID:0060001	withdrawal disorder		ISO	RGD:1352533	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20738730
8804791	Per3	period circadian regulator 3	gene	DOID:0080600	COVID-19		ISO	RGD:1352533	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8804791	Per3	period circadian regulator 3	gene	DOID:0081088	chronic myelogenous leukemia, BCR-ABL1 positive		ISO	RGD:1352533	D	RGD:9068941	20260409	CTD		CTD Direct Evidence: marker/mechanism	PMID:16999817
8804791	Per3	period circadian regulator 3	gene	DOID:0110011	advanced sleep phase syndrome 1		ISO	RGD:1352533	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8804791	Per3	period circadian regulator 3	gene	DOID:0110013	advanced sleep phase syndrome 3		ISO	RGD:1352533	D	RGD:7240710	20190315	OMIM			
8804791	Per3	period circadian regulator 3	gene	DOID:0110013	advanced sleep phase syndrome 3		ISO	RGD:1352533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Advanced sleep phase syndrome 3 | ClinVar Annotator: match by term: PER3-related condition	PMID:25741868|PMID:28492532
8804791	Per3	period circadian regulator 3	gene	DOID:0112255	homocystinuria-megaloblastic anemia cblE type		ISO	RGD:1352533	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE	PMID:25741868
8804791	Per3	period circadian regulator 3	gene	DOID:10534	stomach cancer		ISO	RGD:1352533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8804791	Per3	period circadian regulator 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8804791	Per3	period circadian regulator 3	gene	DOID:1115	sarcoma		ISO	RGD:1352533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8804791	Per3	period circadian regulator 3	gene	DOID:1324	lung cancer		ISO	RGD:1352533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8804791	Per3	period circadian regulator 3	gene	DOID:1574	alcohol use disorder		ISO	RGD:621581	D	RGD:9068941	20241010	RGD		mRNA:altered expression:suprachiasmatic nucleus	PMID:15009656|REF_RGD_ID:407572515
8804791	Per3	period circadian regulator 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8804791	Per3	period circadian regulator 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1352533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8804791	Per3	period circadian regulator 3	gene	DOID:3275	thymoma		ISO	RGD:1352533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8804791	Per3	period circadian regulator 3	gene	DOID:3312	bipolar disorder	sexual_dimorphism	ISO	RGD:1352533	D	RGD:9068941	20240627	RGD		associated with Alcohol-Related Disorders; DNA:SNP::(rs228642) (Human)	PMID:30121446|REF_RGD_ID:405866353
8804791	Per3	period circadian regulator 3	gene	DOID:4362	cervical cancer		ISO	RGD:1352533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8804791	Per3	period circadian regulator 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8804791	Per3	period circadian regulator 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1352533	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8804791	Per3	period circadian regulator 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804791	Per3	period circadian regulator 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8804791	Per3	period circadian regulator 3	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:621581	D	RGD:9068941	20240718	RGD		associated with alcohol use disorder;mRNA:altered expression: arcuate nucleus of hypothalamus, suprachiasmatic nucleus	PMID:16686691|REF_RGD_ID:405866367
8804791	Per3	period circadian regulator 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8804791	Per3	period circadian regulator 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8804791	Per3	period circadian regulator 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1352533	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20625127
8804822	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8804822	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1349504	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:22158538
8804822	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8804822	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:0081254	posterior fossa group A ependymoma		ISO	RGD:1349504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Posterior fossa group A ependymoma	PMID:27993330|PMID:34546980|PMID:36139566
8804822	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8804822	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1349504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8804822	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:11476	osteoporosis		ISO	RGD:1349504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
8804822	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1349504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8804822	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1349504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25267526|PMID:28436936|PMID:29991672|PMID:30842218|PMID:35101336
8804822	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:3070	high grade glioma		ISO	RGD:1349504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8804822	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349504	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8804822	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1349504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8804822	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1349504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
8804822	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8804822	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8804840	Rap1b	RAP1B, member of RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8804840	Rap1b	RAP1B, member of RAS oncogene family	gene	DOID:10534	stomach cancer		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8804840	Rap1b	RAP1B, member of RAS oncogene family	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8804840	Rap1b	RAP1B, member of RAS oncogene family	gene	DOID:1115	sarcoma		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8804840	Rap1b	RAP1B, member of RAS oncogene family	gene	DOID:1324	lung cancer		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8804840	Rap1b	RAP1B, member of RAS oncogene family	gene	DOID:1909	melanoma		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8804840	Rap1b	RAP1B, member of RAS oncogene family	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8804840	Rap1b	RAP1B, member of RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8804840	Rap1b	RAP1B, member of RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804840	Rap1b	RAP1B, member of RAS oncogene family	gene	DOID:630	genetic disease		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8804840	Rap1b	RAP1B, member of RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8804840	Rap1b	RAP1B, member of RAS oncogene family	gene	DOID:9007648	Thrombocytopenia 11		ISO	RGD:736930	D	RGD:7240710	20240110	OMIM			
8804840	Rap1b	RAP1B, member of RAS oncogene family	gene	DOID:9007648	Thrombocytopenia 11		ISO	RGD:736930	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	PMID:12213964|PMID:25303977|PMID:25741868|PMID:25935485|PMID:27993330|PMID:29235861|PMID:32627184|PMID:34272401|PMID:39225097
8804840	Rap1b	RAP1B, member of RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8804840	Rap1b	RAP1B, member of RAS oncogene family	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8804840	Rap1b	RAP1B, member of RAS oncogene family	gene	DOID:9256	colorectal cancer		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8804851	Mpi	mannose phosphate isomerase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
8804851	Mpi	mannose phosphate isomerase	gene	DOID:0080554	congenital disorder of glycosylation Ib		ISO	RGD:1349436	D	RGD:7240710	20180130	OMIM			
8804851	Mpi	mannose phosphate isomerase	gene	DOID:0080554	congenital disorder of glycosylation Ib		ISO	RGD:1349436	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1b | ClinVar Annotator: match by term: MPI-related condition | ClinVar Annotator: match by term: Mannosephosphate isomerase deficiency	PMID:10484808|PMID:10980531|PMID:11134235|PMID:11350186|PMID:12414827|PMID:16199547|PMID:18928705|PMID:19862844|PMID:21811164|PMID:24421398|PMID:24474243|PMID:24508628|PMID:25741868|PMID:26206375|PMID:28139241|PMID:28492532|PMID:28928705|PMID:30545931|PMID:30653653|PMID:32905087|PMID:33098580|PMID:33204592|PMID:33413482|PMID:33643843|PMID:36786328|PMID:37124179|PMID:38959600|PMID:9525984|PMID:9585601
8804851	Mpi	mannose phosphate isomerase	gene	DOID:10534	stomach cancer		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8804851	Mpi	mannose phosphate isomerase	gene	DOID:12849	autistic disorder		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
8804851	Mpi	mannose phosphate isomerase	gene	DOID:1909	melanoma		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8804851	Mpi	mannose phosphate isomerase	gene	DOID:2978	carbohydrate metabolic disorder		ISO	RGD:1349436	D	RGD:9068941	20200609	RGD		CDG Ib, OMIM:602579, DNA:point mutation:exon:R219Q , insertion:exon:116insC	PMID:9525984|REF_RGD_ID:1600452
8804851	Mpi	mannose phosphate isomerase	gene	DOID:3275	thymoma		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8804851	Mpi	mannose phosphate isomerase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8804851	Mpi	mannose phosphate isomerase	gene	DOID:630	genetic disease		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8804851	Mpi	mannose phosphate isomerase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8804851	Mpi	mannose phosphate isomerase	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:28492532
8804851	Mpi	mannose phosphate isomerase	gene	DOID:9000727	Syncope		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:28492532
8804851	Mpi	mannose phosphate isomerase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8804851	Mpi	mannose phosphate isomerase	gene	DOID:9001733	Tinnitus		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
8804851	Mpi	mannose phosphate isomerase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
8804851	Mpi	mannose phosphate isomerase	gene	DOID:9003539	Hyperacusis		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
8804851	Mpi	mannose phosphate isomerase	gene	DOID:9005077	Joint Instability		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
8804851	Mpi	mannose phosphate isomerase	gene	DOID:9007736	Vertigo		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
8804851	Mpi	mannose phosphate isomerase	gene	DOID:9008385	Vomiting		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868
8804875	Mlxip	MLX interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8804875	Mlxip	MLX interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1602332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8804875	Mlxip	MLX interacting protein	gene	DOID:3275	thymoma		ISO	RGD:1602332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8804875	Mlxip	MLX interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1602332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8804875	Mlxip	MLX interacting protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8804875	Mlxip	MLX interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1602332	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8804875	Mlxip	MLX interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804875	Mlxip	MLX interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8804875	Mlxip	MLX interacting protein	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:1602332	D	RGD:9068941	20230831	RGD		DNA:SNP:3'utr: (rs4758685) (human)	PMID:23840567|REF_RGD_ID:401794443
8804875	Mlxip	MLX interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8804907	Mrpl38	mitochondrial ribosomal protein L38	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8804907	Mrpl38	mitochondrial ribosomal protein L38	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8804907	Mrpl38	mitochondrial ribosomal protein L38	gene	DOID:4362	cervical cancer		ISO	RGD:1322502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8804907	Mrpl38	mitochondrial ribosomal protein L38	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804907	Mrpl38	mitochondrial ribosomal protein L38	gene	DOID:6039	uveal melanoma		ISO	RGD:1322502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8804907	Mrpl38	mitochondrial ribosomal protein L38	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8804927	Themis	thymocyte selection associated	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1560849	D	RGD:9068941	20200917	RGD		DNA:frameshift mutation:	PMID:22275874|REF_RGD_ID:38599149
8804927	Themis	thymocyte selection associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8804927	Themis	thymocyte selection associated	gene	DOID:10608	celiac disease		ISO	RGD:1603481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20190752
8804927	Themis	thymocyte selection associated	gene	DOID:1324	lung cancer		ISO	RGD:1603481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
8804927	Themis	thymocyte selection associated	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8804927	Themis	thymocyte selection associated	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8804927	Themis	thymocyte selection associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804927	Themis	thymocyte selection associated	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8804927	Themis	thymocyte selection associated	gene	DOID:9008671	T-Lymphocytopenia		ISO	RGD:1560849	D	RGD:9068941	20200917	RGD		DNA:frameshift mutation:	PMID:22275874|REF_RGD_ID:38599149
8804927	Themis	thymocyte selection associated	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:0050117	disease by infectious agent		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:0050564	autosomal dominant nonsyndromic deafness		ISO	RGD:735396	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss	PMID:25741868
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:0060260	ptosis		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:23967202|PMID:25741868|PMID:28492532|PMID:38712494
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:0060305	megalocornea		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megalocornea	PMID:25741868
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:0060465	fibrochondrogenesis		ISO	RGD:735396	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: FIBROCHONDROGENESIS | ClinVar Annotator: match by term: Fibrochondrogenesis	PMID:21035103|PMID:23922384|PMID:28492532
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:28492532
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:0070601	autosomal dominant nonsyndromic deafness 37		ISO	RGD:735396	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 37 | ClinVar Annotator: match by term: Deafness, autosomal dominant 37	PMID:10486316|PMID:17576681|PMID:20513134|PMID:21035103|PMID:21668896|PMID:23922384|PMID:25240749|PMID:25741868|PMID:28492532|PMID:29620724|PMID:30311386|PMID:32427345|PMID:32552793|PMID:32756486|PMID:33169910|PMID:33348901|PMID:33951325|PMID:34515852|PMID:35325889|PMID:38410152|PMID:9536098
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:0070601	autosomal dominant nonsyndromic deafness 37	susceptibility	ISO	RGD:735396	D	RGD:7240710	20260729	OMIM			
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:0080046	Stickler syndrome		ISO	RGD:735396	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Stickler syndrome	PMID:10486316|PMID:10573014|PMID:15286167|PMID:16199547|PMID:17576681|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:28000701|PMID:28492532|PMID:29453956|PMID:32427345|PMID:32756486|PMID:9536098
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:0080672	fibrochondrogenesis 1		ISO	RGD:735396	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Fibrochondrogenesis 1	PMID:17576681|PMID:20513134|PMID:21035103|PMID:21668896|PMID:23922384|PMID:23967202|PMID:25240749|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29620724|PMID:31848469|PMID:32427345|PMID:32552793|PMID:32756486|PMID:33348901|PMID:33951325|PMID:34515852|PMID:35325889|PMID:35682719|PMID:37079061|PMID:38410152|PMID:38712494|PMID:9536098
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:0080672	fibrochondrogenesis 1	susceptibility	ISO	RGD:735396	D	RGD:7240710	20260729	OMIM			
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:0080675	Stickler syndrome 2		ISO	RGD:735396	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: STICKLER SYNDROME, TYPE II | ClinVar Annotator: match by term: STICKLER SYNDROME, VITREOUS TYPE 2 | ClinVar Annotator: match by term: Stickler syndrome type 2 | ClinVar Annotator: match by term: Stickler syndrome, beaded vitreous type	PMID:10486316|PMID:10725403|PMID:11668615|PMID:16199547|PMID:17576681|PMID:19344236|PMID:19449424|PMID:20301479|PMID:20513134|PMID:21035103|PMID:21668896|PMID:22499343|PMID:23026214|PMID:23922384|PMID:23967202|PMID:25073711|PMID:25240749|PMID:25741868|PMID:26467025|PMID:27081549|PMID:27081569|PMID:27124789|PMID:28492532|PMID:28983407|PMID:29453956|PMID:29620724|PMID:30020262|PMID:30919572|PMID:31848469|PMID:32371413|PMID:32427345|PMID:32552793|PMID:32578940|PMID:32756486|PMID:33348901|PMID:33951325|PMID:34515852|PMID:34589056|PMID:34627339|PMID:35325889|PMID:35682719|PMID:35741851|PMID:35885918|PMID:37079061|PMID:37644014|PMID:38410152|PMID:38712494|PMID:9529347|PMID:9536098
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:0080675	Stickler syndrome 2	susceptibility	ISO	RGD:735396	D	RGD:7240710	20260729	OMIM			
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:0080918	polymicrogyria		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868|PMID:28492532
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:0110339	osteogenesis imperfecta type 3		ISO	RGD:735396	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta type III	PMID:25741868
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:0111510	Marshall syndrome		ISO	RGD:735396	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: MARSHALL SYNDROME | ClinVar Annotator: match by term: Marshall syndrome	PMID:10486316|PMID:16199547|PMID:17576681|PMID:19449424|PMID:20513134|PMID:21035103|PMID:21668896|PMID:23922384|PMID:25073711|PMID:25240749|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29620724|PMID:30020262|PMID:32427345|PMID:32552793|PMID:32756486|PMID:32963807|PMID:33348901|PMID:33951325|PMID:34589056|PMID:34627339|PMID:35325889|PMID:9529347|PMID:9536098
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:0111510	Marshall syndrome	susceptibility	ISO	RGD:735396	D	RGD:7240710	20260729	OMIM			
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:1059	intellectual disability		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:16199547|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:28492532|PMID:32427345|PMID:32756486
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:1115	sarcoma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:11383	cryptorchidism		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:23967202|PMID:25741868|PMID:28492532|PMID:38712494
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:11830	myopia		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:12849	autistic disorder		ISO	RGD:735396	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:13550	angle-closure glaucoma		ISO	RGD:735396	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22922875|PMID:27064256
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:14323	Marfan syndrome		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Marfan syndrome	PMID:25741868
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:1657	ventricular septal defect		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:16199547|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:28492532|PMID:32427345|PMID:32756486
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:1969	cerebral palsy		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:28492532
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:2030	anxiety disorder		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:735396	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:2355	anemia		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:3070	high grade glioma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:3087	gingivitis		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:28492532
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:3275	thymoma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:4977	lymphedema		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphedema	PMID:23967202|PMID:25741868|PMID:28492532|PMID:38712494
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:735396	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:5119	ovarian cyst		ISO	RGD:735396	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:28492532
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:630	genetic disease		ISO	RGD:735396	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:19449424|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25073711|PMID:25240749|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30020262|PMID:30311386|PMID:32427345|PMID:32756486|PMID:33951325|PMID:34589056|PMID:34627339|PMID:35325889|PMID:9529347
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:16199547|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:28492532|PMID:32427345|PMID:32756486
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:65	connective tissue disease		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31848469|PMID:37086329|PMID:9536098
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:674	cleft palate		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:735396	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm	PMID:17182944
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:83	cataract		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:10486316|PMID:16199547|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:28492532|PMID:32427345|PMID:32756486
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:8398	osteoarthritis		ISO	RGD:735397	D	RGD:9068941	20220825	MouseDO		OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401	
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:8501	fundus dystrophy		ISO	RGD:735396	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532|PMID:37079061
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9000585	Intervertebral Disc Disease		ISO	RGD:735396	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: INTERVERTEBRAL DISC DISEASE | ClinVar Annotator: match by term: Intervertebral disc disease	PMID:17576681|PMID:20513134|PMID:21035103|PMID:21668896|PMID:23922384|PMID:25240749|PMID:25741868|PMID:28492532|PMID:29620724|PMID:32427345|PMID:32552793|PMID:32756486|PMID:33348901|PMID:33951325|PMID:35325889|PMID:9536098
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9000585	Intervertebral Disc Disease	susceptibility	ISO	RGD:735396	D	RGD:7240710	20260729	OMIM			
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9000660	Choristoma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectopic tissue	PMID:25741868|PMID:28492532
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9001224	Striae Distensae		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:25741868
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9001276	Failure to Thrive		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9001510	Funnel Chest		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9001733	Tinnitus		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Agenesis of corpus callosum	PMID:25741868
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868|PMID:28492532
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9003133	Hypertelorism		ISO	RGD:735396	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:10486316|PMID:16199547|PMID:17576681|PMID:19449424|PMID:20513134|PMID:21035103|PMID:23922384|PMID:23967202|PMID:25073711|PMID:25240749|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30020262|PMID:32427345|PMID:32756486|PMID:33951325|PMID:34589056|PMID:34627339|PMID:38712494|PMID:9529347|PMID:9536098
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9003507	Premature Birth		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9003591	Telecanthus		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9004538	Hearing Loss		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30311386|PMID:9536098
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9005077	Joint Instability		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:16199547|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:28492532|PMID:32427345|PMID:32756486
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9005444	Torsades de Pointes		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torsades de pointes	PMID:25741868
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9005570	Marshall/Stickler Syndrome		ISO	RGD:735396	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MARSHALL/STICKLER SYNDROME	
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9005616	Micrognathism		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28492532
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:735396	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374069
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9006086	Intervertebral Disc Displacement		ISO	RGD:735396	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17999364
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9007114	Mobility Limitation		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:25741868
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9007661	Dwarfism		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16199547|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:28492532|PMID:32427345|PMID:32756486
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:735396	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19638309
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9256	colorectal cancer		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
8804945	Col11a1	collagen type XI alpha 1 chain	gene	DOID:9849	Meniere's disease		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meniere disease | ClinVar Annotator: match by term: Ménière's disease	PMID:25741868|PMID:28492532|PMID:31848469
8805014	Pdcd1lg2	programmed cell death 1 ligand 2	gene	DOID:1731	histoplasmosis		ISO	RGD:1552436	D	RGD:9068941	20201203	RGD		protein:increased expression:macrophage, dendritic cell	PMID:18268348|REF_RGD_ID:40822806
8805014	Pdcd1lg2	programmed cell death 1 ligand 2	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:1552436	D	RGD:9068941	20210219	RGD			PMID:19781375|REF_RGD_ID:41412171
8805014	Pdcd1lg2	programmed cell death 1 ligand 2	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1314998	D	RGD:9068941	20201203	RGD		protein:increased expression:Tcell, B cell, monocyte	PMID:23661793|REF_RGD_ID:40818418
8805014	Pdcd1lg2	programmed cell death 1 ligand 2	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1306403	D	RGD:9068941	20201203	RGD		mRNA:increased expression:microglial cell	PMID:29665726|REF_RGD_ID:40886268
8805014	Pdcd1lg2	programmed cell death 1 ligand 2	gene	DOID:9000220	Coxsackievirus Infections	treatment	ISO	RGD:1552436	D	RGD:9068941	20201203	RGD			PMID:30904424|REF_RGD_ID:40818421
8805014	Pdcd1lg2	programmed cell death 1 ligand 2	gene	DOID:9004484	Sepsis		ISO	RGD:1314998	D	RGD:9068941	20201127	RGD		protein:increased expression:CD27B cell	PMID:29661225|REF_RGD_ID:40818424
8805014	Pdcd1lg2	programmed cell death 1 ligand 2	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:1552436	D	RGD:9068941	20210219	RGD			PMID:16358363|REF_RGD_ID:41410801
8805026	Oc90	otoconin 90	gene	DOID:3426	vestibular disease		ISO	RGD:1606848	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:21269433
8805026	Oc90	otoconin 90	gene	DOID:4362	cervical cancer		ISO	RGD:1606848	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8805042	Pck2	phosphoenolpyruvate carboxykinase 2, mitochondrial	gene	DOID:0080600	COVID-19		ISO	RGD:1322394	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8805042	Pck2	phosphoenolpyruvate carboxykinase 2, mitochondrial	gene	DOID:9000520	Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial		ISO	RGD:1322394	D	RGD:7240710	20190306	OMIM			
8805042	Pck2	phosphoenolpyruvate carboxykinase 2, mitochondrial	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322394	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8805042	Pck2	phosphoenolpyruvate carboxykinase 2, mitochondrial	gene	DOID:9002669	Hypoxia		ISO	RGD:1322394	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18258771
8805042	Pck2	phosphoenolpyruvate carboxykinase 2, mitochondrial	gene	DOID:9005930	Endotoxemia		ISO	RGD:1311112	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression,decreased activity:liver:	PMID:19268478|REF_RGD_ID:10427879
8805056	Nxpe2	neurexophilin and PC-esterase domain family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8805071	Rab11b	RAB11B, member RAS oncogene family	gene	DOID:0070753	neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter		ISO	RGD:68529	D	RGD:7240710	20190315	OMIM			
8805071	Rab11b	RAB11B, member RAS oncogene family	gene	DOID:0070753	neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter		ISO	RGD:68529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER | ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | ClinVar Annotator: match by term: RAB11B-related condition	PMID:25741868|PMID:28492532|PMID:29106825|PMID:36553572|PMID:37734130
8805071	Rab11b	RAB11B, member RAS oncogene family	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8805071	Rab11b	RAB11B, member RAS oncogene family	gene	DOID:1909	melanoma		ISO	RGD:68529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8805071	Rab11b	RAB11B, member RAS oncogene family	gene	DOID:234	colon adenocarcinoma		ISO	RGD:68529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8805071	Rab11b	RAB11B, member RAS oncogene family	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:68529	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8805071	Rab11b	RAB11B, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805071	Rab11b	RAB11B, member RAS oncogene family	gene	DOID:630	genetic disease		ISO	RGD:68529	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29106825
8805071	Rab11b	RAB11B, member RAS oncogene family	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:68529	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:29106825|PMID:37734130
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:0050861	colorectal adenocarcinoma		ISO	RGD:1314126	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:colonic mucosa (human)	PMID:25107436|REF_RGD_ID:11049173
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:10325	silicosis		ISO	RGD:1305848	D	RGD:9068941	20200609	RGD		mRNA:altered expression:lung (rat)	PMID:18685790|REF_RGD_ID:4893904
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1314126	D	RGD:9068941	20200609	RGD		protein:increased expression:breast (human)	PMID:21136934|REF_RGD_ID:11049179
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:3070	high grade glioma		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:3275	thymoma		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:418	systemic scleroderma		ISO	RGD:1314126	D	RGD:9068941	20200609	RGD		protein:increased expression:saliva (human)	PMID:17722226|REF_RGD_ID:11049167
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1314126	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314126	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:8577	ulcerative colitis		ISO	RGD:1314126	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18836448
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8805080	Arpc2	actin related protein 2/3 complex subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8805101	Lrrtm4	leucine rich repeat transmembrane neuronal 4	gene	DOID:1909	melanoma		ISO	RGD:1352645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8805101	Lrrtm4	leucine rich repeat transmembrane neuronal 4	gene	DOID:4362	cervical cancer		ISO	RGD:1352645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8805101	Lrrtm4	leucine rich repeat transmembrane neuronal 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1352645	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8805101	Lrrtm4	leucine rich repeat transmembrane neuronal 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805108	Fhip1b	FHF complex subunit HOOK interacting protein 1B	gene	DOID:10283	prostate cancer		ISO	RGD:1604775	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:25741868
8805108	Fhip1b	FHF complex subunit HOOK interacting protein 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8805108	Fhip1b	FHF complex subunit HOOK interacting protein 1B	gene	DOID:1324	lung cancer		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8805108	Fhip1b	FHF complex subunit HOOK interacting protein 1B	gene	DOID:1909	melanoma		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8805108	Fhip1b	FHF complex subunit HOOK interacting protein 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8805108	Fhip1b	FHF complex subunit HOOK interacting protein 1B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8805108	Fhip1b	FHF complex subunit HOOK interacting protein 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604775	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8805108	Fhip1b	FHF complex subunit HOOK interacting protein 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805108	Fhip1b	FHF complex subunit HOOK interacting protein 1B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8805108	Fhip1b	FHF complex subunit HOOK interacting protein 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8805108	Fhip1b	FHF complex subunit HOOK interacting protein 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8805143	Prickle4	prickle planar cell polarity protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8805143	Prickle4	prickle planar cell polarity protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1347495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8805143	Prickle4	prickle planar cell polarity protein 4	gene	DOID:3275	thymoma		ISO	RGD:1347495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8805143	Prickle4	prickle planar cell polarity protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1347495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8805143	Prickle4	prickle planar cell polarity protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805165	Sash1	SAM and SH3 domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8805165	Sash1	SAM and SH3 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8805165	Sash1	SAM and SH3 domain containing 1	gene	DOID:0080445	developmental and epileptic encephalopathy 13		ISO	RGD:1350407	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13	PMID:25741868
8805165	Sash1	SAM and SH3 domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8805165	Sash1	SAM and SH3 domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8805165	Sash1	SAM and SH3 domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8805165	Sash1	SAM and SH3 domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8805165	Sash1	SAM and SH3 domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8805165	Sash1	SAM and SH3 domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8805165	Sash1	SAM and SH3 domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350407	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8805165	Sash1	SAM and SH3 domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8805165	Sash1	SAM and SH3 domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1350407	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8805165	Sash1	SAM and SH3 domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8805165	Sash1	SAM and SH3 domain containing 1	gene	DOID:893	Wilson disease		ISO	RGD:1350407	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Wilson disease	PMID:25741868
8805165	Sash1	SAM and SH3 domain containing 1	gene	DOID:9002761	Dyschromatosis Universalis Hereditaria 1		ISO	RGD:1350407	D	RGD:7240710	20190403	OMIM			
8805165	Sash1	SAM and SH3 domain containing 1	gene	DOID:9002761	Dyschromatosis Universalis Hereditaria 1		ISO	RGD:1350407	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1 | ClinVar Annotator: match by term: Dyschromatosis universalis hereditaria 1	PMID:23333244|PMID:25741868|PMID:26203640|PMID:27659786|PMID:27840890|PMID:27885802|PMID:29956681|PMID:32981204|PMID:37056170
8805165	Sash1	SAM and SH3 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8805165	Sash1	SAM and SH3 domain containing 1	gene	DOID:9008147	Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma		ISO	RGD:1350407	D	RGD:7240710	20190424	OMIM			
8805165	Sash1	SAM and SH3 domain containing 1	gene	DOID:9008147	Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | ClinVar Annotator: match by term: SASH1-related condition	PMID:25741868|PMID:28492532
8805165	Sash1	SAM and SH3 domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8805165	Sash1	SAM and SH3 domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8805165	Sash1	SAM and SH3 domain containing 1	gene	DOID:987	alopecia		ISO	RGD:1350407	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: alopecia	
8805200	Cutc	cutC copper transporter	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8805200	Cutc	cutC copper transporter	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8805200	Cutc	cutC copper transporter	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8805200	Cutc	cutC copper transporter	gene	DOID:1909	melanoma		ISO	RGD:1312713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8805200	Cutc	cutC copper transporter	gene	DOID:4362	cervical cancer		ISO	RGD:1312713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8805200	Cutc	cutC copper transporter	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805200	Cutc	cutC copper transporter	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8805200	Cutc	cutC copper transporter	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8805224	Hhipl1	HHIP like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8805224	Hhipl1	HHIP like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1349549	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8805224	Hhipl1	HHIP like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1349549	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8805224	Hhipl1	HHIP like 1	gene	DOID:1909	melanoma		ISO	RGD:1349549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8805224	Hhipl1	HHIP like 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1349549	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378990
8805224	Hhipl1	HHIP like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8805224	Hhipl1	HHIP like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8805224	Hhipl1	HHIP like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8805239	Mpp4	MAGUK p55 scaffold protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:733195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8805239	Mpp4	MAGUK p55 scaffold protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8805239	Mpp4	MAGUK p55 scaffold protein 4	gene	DOID:1324	lung cancer		ISO	RGD:733195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8805239	Mpp4	MAGUK p55 scaffold protein 4	gene	DOID:3275	thymoma		ISO	RGD:733195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8805239	Mpp4	MAGUK p55 scaffold protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805239	Mpp4	MAGUK p55 scaffold protein 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
8805239	Mpp4	MAGUK p55 scaffold protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8805239	Mpp4	MAGUK p55 scaffold protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8805239	Mpp4	MAGUK p55 scaffold protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8805269	Ltb4r2	leukotriene B4 receptor 2	gene	DOID:9004610	Acute Lung Injury	severity	ISO	RGD:732977	D	RGD:9068941	20210108	RGD		associated with Endotoxemia	PMID:27703200|REF_RGD_ID:40903067
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:0080600	COVID-19		ISO	RGD:1318553	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:1059	intellectual disability		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:1115	sarcoma		ISO	RGD:1318553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:12849	autistic disorder		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:1324	lung cancer		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:14323	Marfan syndrome		ISO	RGD:1318553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25101153
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:1826	epilepsy		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:1909	melanoma		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:3275	thymoma		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1318553	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318553	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:520	aortic disease		ISO	RGD:1318553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25101153
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:9000165	Neuromuscular Manifestations		ISO	RGD:1318553	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: therapeutic	PMID:30476904
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1318553	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: therapeutic	PMID:30476904
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:9006599	Hypertriglyceridemia	susceptibility	ISO	RGD:1318553	D	RGD:9068941	20230831	RGD		DNA:SNPs,haplotypes: (rs10911205) (human)	PMID:27599772|REF_RGD_ID:401794577
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:9007402	Gliosis		ISO	RGD:1318553	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: therapeutic	PMID:30476904
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8805289	Lamc1	laminin subunit gamma 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8805325	Wdr97	WD repeat domain 97	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8805325	Wdr97	WD repeat domain 97	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8805325	Wdr97	WD repeat domain 97	gene	DOID:1115	sarcoma		ISO	RGD:1601920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8805325	Wdr97	WD repeat domain 97	gene	DOID:3275	thymoma		ISO	RGD:1601920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8805325	Wdr97	WD repeat domain 97	gene	DOID:4362	cervical cancer		ISO	RGD:1601920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8805325	Wdr97	WD repeat domain 97	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805325	Wdr97	WD repeat domain 97	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8805325	Wdr97	WD repeat domain 97	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8805379	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8805379	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:0050573	2-hydroxyglutaric aciduria		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: 2-hydroxyglutaric aciduria	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8805379	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:0050574	L-2-hydroxyglutaric aciduria		ISO	RGD:1314761	D	RGD:7240710	20180307	OMIM			
8805379	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:0050574	L-2-hydroxyglutaric aciduria		ISO	RGD:1314761	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: L-2-HYDROXYGLUTARIC ACIDURIA | ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria | ClinVar Annotator: match by term: L2HGDH-related condition	PMID:15385440|PMID:15548604|PMID:16134148|PMID:16199547|PMID:17576681|PMID:17981416|PMID:18362286|PMID:18414213|PMID:18415700|PMID:18780161|PMID:19863265|PMID:19911013|PMID:20052767|PMID:21937992|PMID:22030381|PMID:24573090|PMID:25033591|PMID:25741868|PMID:26467025|PMID:26829733|PMID:28492532|PMID:29302074|PMID:29458334|PMID:30217188|PMID:31942424|PMID:32626804|PMID:33061758|PMID:33083013|PMID:34330727|PMID:37378753|PMID:38301078|PMID:38464914|PMID:40870031|PMID:8415700|PMID:9536098
8805379	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1314761	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:c.241A4G(p.K81E)(human)	PMID:24573090|REF_RGD_ID:13506824
8805379	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:10534	stomach cancer		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8805379	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:1059	intellectual disability		ISO	RGD:1314761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
8805379	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:1324	lung cancer		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8805379	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:1826	epilepsy		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16134148|PMID:20052767|PMID:25741868|PMID:28492532
8805379	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:1909	melanoma		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8805379	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1314761	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:c.241A4G(p.K81E)(human)	PMID:24573090|REF_RGD_ID:13506824
8805379	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:543	dystonia		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:16134148|PMID:20052767|PMID:25741868|PMID:28492532
8805379	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805379	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:630	genetic disease		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8805379	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:9000053	Headache		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:16134148|PMID:16199547|PMID:20052767|PMID:25741868|PMID:28492532|PMID:32626804
8805379	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	PMID:16134148|PMID:20052767|PMID:25741868|PMID:28492532
8805379	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:9004866	Ataxia		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb ataxia	PMID:16134148|PMID:16199547|PMID:20052767|PMID:25741868|PMID:28492532|PMID:32626804
8805379	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic gait	PMID:16134148|PMID:16199547|PMID:20052767|PMID:25741868|PMID:28492532|PMID:32626804
8805379	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1314761	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15385440
8805379	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8805379	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8805393	Gar1	GAR1 ribonucleoprotein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8805393	Gar1	GAR1 ribonucleoprotein	gene	DOID:10534	stomach cancer		ISO	RGD:1346713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8805393	Gar1	GAR1 ribonucleoprotein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8805393	Gar1	GAR1 ribonucleoprotein	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:1346713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22299032
8805393	Gar1	GAR1 ribonucleoprotein	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1346713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8805393	Gar1	GAR1 ribonucleoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805393	Gar1	GAR1 ribonucleoprotein	gene	DOID:74	hematopoietic system disease		ISO	RGD:1346713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22299032
8805393	Gar1	GAR1 ribonucleoprotein	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1346713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8805409	Znf469	zinc finger protein 469	gene	DOID:0060249	scoliosis		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:0080016	spina bifida		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spina bifida	PMID:25741868|PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:25741868|PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:1316175	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group A	PMID:25168418
8805409	Znf469	zinc finger protein 469	gene	DOID:10124	corneal disease		ISO	RGD:1316175	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18452888
8805409	Znf469	zinc finger protein 469	gene	DOID:10534	stomach cancer		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8805409	Znf469	zinc finger protein 469	gene	DOID:1059	intellectual disability		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:10908	hydrocephalus		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868|PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:11155	hypohidrosis		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:11830	myopia		ISO	RGD:1316175	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:12143	neurogenic bladder		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurogenic bladder	PMID:25741868|PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:1247	blood coagulation disease		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:12849	autistic disorder		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
8805409	Znf469	zinc finger protein 469	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:1316175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:23642083|PMID:23680354|PMID:24825865|PMID:24895405|PMID:25097247|PMID:25564447|PMID:25741868|PMID:26806788|PMID:27040692|PMID:28492532|PMID:28622062|PMID:29228253|PMID:29843651|PMID:32671420|PMID:33739556|PMID:33816482|PMID:34368841|PMID:35982159|PMID:36484990|PMID:38684849
8805409	Znf469	zinc finger protein 469	gene	DOID:14775	brittle cornea syndrome 1		ISO	RGD:1316175	D	RGD:7240710	20180130	OMIM			
8805409	Znf469	zinc finger protein 469	gene	DOID:14775	brittle cornea syndrome 1		ISO	RGD:1316175	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: EDS6B | ClinVar Annotator: match by term: ZNF469-related condition	PMID:18452888|PMID:19661234|PMID:20938016|PMID:23642083|PMID:23680354|PMID:24082139|PMID:24895405|PMID:25097247|PMID:25564447|PMID:25741868|PMID:28377322|PMID:28484309|PMID:28492532|PMID:28518168|PMID:28622062|PMID:29228253|PMID:31107761|PMID:32461654|PMID:32671420|PMID:33739556|PMID:33747040|PMID:33816482|PMID:34368841|PMID:5755738|PMID:7387950
8805409	Znf469	zinc finger protein 469	gene	DOID:14775	brittle cornea syndrome 1		ISO	RGD:1316175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRITTLE CORNEA SYNDROME 1 | ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: Fragilitas oculi with joint hyperextensibility | ClinVar Annotator: match by term: ZNF469-related condition	PMID:23642083|PMID:23680354|PMID:24825865|PMID:24895405|PMID:25097247|PMID:25564447|PMID:25741868|PMID:26339402|PMID:27040692|PMID:28492532|PMID:28622062|PMID:29228253|PMID:29843651|PMID:32671420|PMID:33737726|PMID:33739556|PMID:33816482|PMID:34368841|PMID:36484990|PMID:38039006|PMID:38684849|PMID:41153364
8805409	Znf469	zinc finger protein 469	gene	DOID:1596	depressive disorder		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:1826	epilepsy		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:2030	anxiety disorder		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:3087	gingivitis		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:4362	cervical cancer		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:480	movement disease		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
8805409	Znf469	zinc finger protein 469	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:799	varicose veins		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Varicose disease	PMID:25741868
8805409	Znf469	zinc finger protein 469	gene	DOID:7998	hyperthyroidism		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
8805409	Znf469	zinc finger protein 469	gene	DOID:824	periodontitis		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:9001224	Striae Distensae		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:25741868|PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:9001733	Tinnitus		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:9001946	Skin Abnormalities		ISO	RGD:1316175	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18452888
8805409	Znf469	zinc finger protein 469	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8805409	Znf469	zinc finger protein 469	gene	DOID:9003318	Keratoconus 1		ISO	RGD:1316175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Keratoconus 1	PMID:24895405|PMID:25564447|PMID:25741868|PMID:28492532|PMID:29228253|PMID:33816482
8805409	Znf469	zinc finger protein 469	gene	DOID:9003539	Hyperacusis		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
8805409	Znf469	zinc finger protein 469	gene	DOID:9005077	Joint Instability		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:9007736	Vertigo		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:9008023	Memory Disorders		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
8805409	Znf469	zinc finger protein 469	gene	DOID:9409	diabetes insipidus		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	
8805409	Znf469	zinc finger protein 469	gene	DOID:9834	hyperopia		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
8805409	Znf469	zinc finger protein 469	gene	DOID:9970	obesity		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
8805423	Tagln	transgelin	gene	DOID:0080685	aortic dissection	treatment	ISO	RGD:11323	D	RGD:9068941	20230223	RGD		Apolipoprotein E knockout	PMID:33403385|REF_RGD_ID:156420156
8805423	Tagln	transgelin	gene	DOID:1115	sarcoma		ISO	RGD:11324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8805423	Tagln	transgelin	gene	DOID:289	endometriosis		ISO	RGD:11324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
8805423	Tagln	transgelin	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:11324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
8805423	Tagln	transgelin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:11324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8805423	Tagln	transgelin	gene	DOID:9000058	Keloid		ISO	RGD:11324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
8805423	Tagln	transgelin	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:11324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
8805423	Tagln	transgelin	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:3723	D	RGD:9068941	20230202	RGD		mRNA:decreased expression:carotid artery:	PMID:34694145|REF_RGD_ID:155883160
8805423	Tagln	transgelin	gene	DOID:9006332	Vascular Calcification		ISO	RGD:3723	D	RGD:9068941	20250814	RGD		associated with end stage renal disease;mRNA,protein:increased expression:artery	PMID:30973285|REF_RGD_ID:625787427
8805423	Tagln	transgelin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:11324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8805423	Tagln	transgelin	gene	DOID:9455	lipid storage disease		ISO	RGD:11324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15342952|PMID:16919414|PMID:17175557
8805435	Tctn1	tectonic family member 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1606246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:17576681|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:26489806|PMID:27894351|PMID:28492532|PMID:31302911|PMID:9536098
8805435	Tctn1	tectonic family member 1	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1606246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:16199547|PMID:17576681|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:27894351|PMID:28492532|PMID:9536098
8805435	Tctn1	tectonic family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8805435	Tctn1	tectonic family member 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1606246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica	PMID:16199547|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:27894351|PMID:28492532
8805435	Tctn1	tectonic family member 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606246	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1	PMID:16199547|PMID:17576681|PMID:21725307|PMID:22693042|PMID:25741868|PMID:27894351|PMID:28492532|PMID:9536098
8805435	Tctn1	tectonic family member 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606246	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:26489806|PMID:27894351|PMID:28492532|PMID:9536098
8805435	Tctn1	tectonic family member 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606246	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:26477546|PMID:26489806|PMID:27894351|PMID:28492532|PMID:31302911|PMID:9536098
8805435	Tctn1	tectonic family member 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:27894351|PMID:28492532
8805435	Tctn1	tectonic family member 1	gene	DOID:0110982	Joubert syndrome 13		ISO	RGD:1606246	D	RGD:7240710	20190315	OMIM			
8805435	Tctn1	tectonic family member 1	gene	DOID:0110982	Joubert syndrome 13		ISO	RGD:1606246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 13 | ClinVar Annotator: match by term: Joubert syndrome 13 | ClinVar Annotator: match by term: TCTN1-related condition	PMID:16199547|PMID:18414213|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26123494|PMID:26477546|PMID:27894351|PMID:28492532|PMID:31302911
8805435	Tctn1	tectonic family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:16199547|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:27894351|PMID:28492532
8805435	Tctn1	tectonic family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1606246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8805435	Tctn1	tectonic family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
8805435	Tctn1	tectonic family member 1	gene	DOID:1909	melanoma		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8805435	Tctn1	tectonic family member 1	gene	DOID:3275	thymoma		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8805435	Tctn1	tectonic family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8805435	Tctn1	tectonic family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606246	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8805435	Tctn1	tectonic family member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8805435	Tctn1	tectonic family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8805435	Tctn1	tectonic family member 1	gene	DOID:630	genetic disease		ISO	RGD:1606246	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8805435	Tctn1	tectonic family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8805435	Tctn1	tectonic family member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1606246	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17984051
8805435	Tctn1	tectonic family member 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:26092869
8805435	Tctn1	tectonic family member 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8805435	Tctn1	tectonic family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8805453	Rnf166	ring finger protein 166	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805453	Rnf166	ring finger protein 166	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8805453	Rnf166	ring finger protein 166	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8805479	Mcm2	minichromosome maintenance complex component 2	gene	DOID:0080600	COVID-19		ISO	RGD:1313689	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8805479	Mcm2	minichromosome maintenance complex component 2	gene	DOID:0110592	autosomal dominant nonsyndromic deafness 70		ISO	RGD:1313689	D	RGD:7240710	20190315	OMIM			
8805479	Mcm2	minichromosome maintenance complex component 2	gene	DOID:0110592	autosomal dominant nonsyndromic deafness 70		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal dominant 70 | ClinVar Annotator: match by term: MCM2-related condition	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29706348
8805479	Mcm2	minichromosome maintenance complex component 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1313689	D	RGD:9068941	20200609	RGD			PMID:19946466|REF_RGD_ID:10412048
8805479	Mcm2	minichromosome maintenance complex component 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1313690	D	RGD:9068941	20200609	RGD			PMID:17070803|REF_RGD_ID:10412050
8805479	Mcm2	minichromosome maintenance complex component 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8805479	Mcm2	minichromosome maintenance complex component 2	gene	DOID:1115	sarcoma		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8805479	Mcm2	minichromosome maintenance complex component 2	gene	DOID:1324	lung cancer		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8805479	Mcm2	minichromosome maintenance complex component 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8805479	Mcm2	minichromosome maintenance complex component 2	gene	DOID:3275	thymoma		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8805479	Mcm2	minichromosome maintenance complex component 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8805479	Mcm2	minichromosome maintenance complex component 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805479	Mcm2	minichromosome maintenance complex component 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313689	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8805479	Mcm2	minichromosome maintenance complex component 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1313689	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23770000
8805479	Mcm2	minichromosome maintenance complex component 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8805479	Mcm2	minichromosome maintenance complex component 2	gene	DOID:9007970	Chronic Cerebral Hypoperfusion		ISO	RGD:1305577	D	RGD:9068941	20200609	RGD		protein:increased expression:dentate gyrus	PMID:17931356|REF_RGD_ID:10412049
8805499	Ppm1b	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8805499	Ppm1b	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8805499	Ppm1b	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:0060858	hypotonia-cystinuria syndrome		ISO	RGD:733846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26247364
8805499	Ppm1b	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:10534	stomach cancer		ISO	RGD:733846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8805499	Ppm1b	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8805499	Ppm1b	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:1115	sarcoma		ISO	RGD:733846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8805499	Ppm1b	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:1324	lung cancer		ISO	RGD:733846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8805499	Ppm1b	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:3275	thymoma		ISO	RGD:733846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8805499	Ppm1b	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:3883	Lynch syndrome		ISO	RGD:156450125	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Lynch syndrome	PMID:28492532
8805499	Ppm1b	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:4362	cervical cancer		ISO	RGD:733846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8805499	Ppm1b	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805499	Ppm1b	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:733846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8805499	Ppm1b	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:733846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8805524	Trim15	tripartite motif containing 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322537	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8805524	Trim15	tripartite motif containing 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322537	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805524	Trim15	tripartite motif containing 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8805547	Mapre2	microtubule associated protein RP/EB family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8805547	Mapre2	microtubule associated protein RP/EB family member 2	gene	DOID:0112243	congenital symmetric circumferential skin creases 2		ISO	RGD:1344538	D	RGD:7240710	20180130	OMIM			
8805547	Mapre2	microtubule associated protein RP/EB family member 2	gene	DOID:0112243	congenital symmetric circumferential skin creases 2		ISO	RGD:1344538	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 | ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2	PMID:25741868|PMID:26637975|PMID:31903734
8805547	Mapre2	microtubule associated protein RP/EB family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1344538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8805547	Mapre2	microtubule associated protein RP/EB family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1344538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8805547	Mapre2	microtubule associated protein RP/EB family member 2	gene	DOID:1909	melanoma		ISO	RGD:1344538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8805547	Mapre2	microtubule associated protein RP/EB family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1344538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8805547	Mapre2	microtubule associated protein RP/EB family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805547	Mapre2	microtubule associated protein RP/EB family member 2	gene	DOID:630	genetic disease		ISO	RGD:1344538	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743
8805547	Mapre2	microtubule associated protein RP/EB family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8805547	Mapre2	microtubule associated protein RP/EB family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8805547	Mapre2	microtubule associated protein RP/EB family member 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1344538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8805579	Cttnbp2	cortactin binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8805579	Cttnbp2	cortactin binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8805579	Cttnbp2	cortactin binding protein 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1353355	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
8805579	Cttnbp2	cortactin binding protein 2	gene	DOID:10283	prostate cancer		ISO	RGD:1353355	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
8805579	Cttnbp2	cortactin binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1353355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8805579	Cttnbp2	cortactin binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8805579	Cttnbp2	cortactin binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1353355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8805579	Cttnbp2	cortactin binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1353355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8805579	Cttnbp2	cortactin binding protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8805579	Cttnbp2	cortactin binding protein 2	gene	DOID:3070	high grade glioma		ISO	RGD:1353355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8805579	Cttnbp2	cortactin binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:1353355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8805579	Cttnbp2	cortactin binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1353355	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8805579	Cttnbp2	cortactin binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805579	Cttnbp2	cortactin binding protein 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8805579	Cttnbp2	cortactin binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8805579	Cttnbp2	cortactin binding protein 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1353355	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8805579	Cttnbp2	cortactin binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8805605	Nrap	nebulin related anchoring protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8805605	Nrap	nebulin related anchoring protein	gene	DOID:0112082	nuclear type mitochondrial complex I deficiency 4		ISO	RGD:1315517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 4	PMID:25741868
8805605	Nrap	nebulin related anchoring protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8805605	Nrap	nebulin related anchoring protein	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315517	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:33534821
8805605	Nrap	nebulin related anchoring protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8805605	Nrap	nebulin related anchoring protein	gene	DOID:3275	thymoma		ISO	RGD:1315517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8805605	Nrap	nebulin related anchoring protein	gene	DOID:4362	cervical cancer		ISO	RGD:1315517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8805605	Nrap	nebulin related anchoring protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1315517	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8805605	Nrap	nebulin related anchoring protein	gene	DOID:630	genetic disease		ISO	RGD:1315517	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8805605	Nrap	nebulin related anchoring protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8805605	Nrap	nebulin related anchoring protein	gene	DOID:9007820	Sudden Death		ISO	RGD:1315517	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death	
8805661	Gnat2	G protein subunit alpha transducin 2	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1319893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:12077706|PMID:25741868|PMID:28492532|PMID:31058429|PMID:31144483
8805661	Gnat2	G protein subunit alpha transducin 2	gene	DOID:0110010	achromatopsia 4		ISO	RGD:1319893	D	RGD:7240710	20180130	OMIM			
8805661	Gnat2	G protein subunit alpha transducin 2	gene	DOID:0110010	achromatopsia 4		ISO	RGD:1319893	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACHROMATOPSIA 4 | ClinVar Annotator: match by term: Achromatopsia 4	PMID:12077706|PMID:15557429|PMID:18643908|PMID:21107338|PMID:25741868|PMID:27208204|PMID:28492532|PMID:31058429|PMID:31144483
8805661	Gnat2	G protein subunit alpha transducin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8805661	Gnat2	G protein subunit alpha transducin 2	gene	DOID:13399	color blindness		ISO	RGD:1319893	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12077706
8805661	Gnat2	G protein subunit alpha transducin 2	gene	DOID:13399	color blindness		ISO	RGD:1319893	D	RGD:9068941	20200609	RGD			PMID:12077706|REF_RGD_ID:1599034
8805661	Gnat2	G protein subunit alpha transducin 2	gene	DOID:13911	achromatopsia		ISO	RGD:1319893	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Achromatopsia	PMID:12077706|PMID:25741868|PMID:28492532|PMID:31058429|PMID:31144483
8805661	Gnat2	G protein subunit alpha transducin 2	gene	DOID:3275	thymoma		ISO	RGD:1319893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8805661	Gnat2	G protein subunit alpha transducin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805661	Gnat2	G protein subunit alpha transducin 2	gene	DOID:630	genetic disease		ISO	RGD:1319893	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8805661	Gnat2	G protein subunit alpha transducin 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1319893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:12077706|PMID:25741868|PMID:28492532|PMID:31058429|PMID:31144483|PMID:31964843
8805661	Gnat2	G protein subunit alpha transducin 2	gene	DOID:9003656	Achromatopsia 1		ISO	RGD:1319893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod monochromatism	PMID:12077706|PMID:25741868|PMID:28492532|PMID:31058429|PMID:31144483
8805661	Gnat2	G protein subunit alpha transducin 2	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1319893	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	
8805661	Gnat2	G protein subunit alpha transducin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8805688	Cabyr	calcium binding tyrosine phosphorylation regulated	gene	DOID:1115	sarcoma		ISO	RGD:1349000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8805688	Cabyr	calcium binding tyrosine phosphorylation regulated	gene	DOID:12336	male infertility		ISO	RGD:1616750	D	RGD:9068941	20220825	MouseDO			
8805688	Cabyr	calcium binding tyrosine phosphorylation regulated	gene	DOID:1324	lung cancer		ISO	RGD:1349000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8805688	Cabyr	calcium binding tyrosine phosphorylation regulated	gene	DOID:5041	esophageal cancer		ISO	RGD:1349000	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8805688	Cabyr	calcium binding tyrosine phosphorylation regulated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805688	Cabyr	calcium binding tyrosine phosphorylation regulated	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1349000	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17892325
8805688	Cabyr	calcium binding tyrosine phosphorylation regulated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8805710	Fen1	flap structure-specific endonuclease 1	gene	DOID:1612	breast cancer		ISO	RGD:732679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
8805710	Fen1	flap structure-specific endonuclease 1	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:732679	D	RGD:9068941	20200609	RGD		DNA,mRNA:hypomethylation,increased expression:promoter,breast	PMID:19010819|REF_RGD_ID:6484520
8805710	Fen1	flap structure-specific endonuclease 1	gene	DOID:299	adenocarcinoma	susceptibility	ISO	RGD:732680	D	RGD:9068941	20200609	RGD			PMID:12119409|REF_RGD_ID:737746
8805710	Fen1	flap structure-specific endonuclease 1	gene	DOID:417	autoimmune disease		ISO	RGD:732680	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.E160D	PMID:17589521|REF_RGD_ID:6484213
8805710	Fen1	flap structure-specific endonuclease 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805710	Fen1	flap structure-specific endonuclease 1	gene	DOID:9002245	Intestinal Neoplasms	disease_progression	ISO	RGD:10166	D	RGD:9068941	20200609	RGD		DNA:haploinsufficiency: :	PMID:12119409|REF_RGD_ID:737746
8805710	Fen1	flap structure-specific endonuclease 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:732679	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28371273
8805710	Fen1	flap structure-specific endonuclease 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:732680	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.E160D	PMID:17589521|REF_RGD_ID:6484213
8805710	Fen1	flap structure-specific endonuclease 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:732679	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	
8805710	Fen1	flap structure-specific endonuclease 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:732679	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24836286
8805710	Fen1	flap structure-specific endonuclease 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8805716	Tk1	thymidine kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8805716	Tk1	thymidine kinase 1	gene	DOID:0080600	COVID-19		ISO	RGD:736473	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8805716	Tk1	thymidine kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:736473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8805716	Tk1	thymidine kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:736473	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8805716	Tk1	thymidine kinase 1	gene	DOID:1612	breast cancer		ISO	RGD:736473	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:10883887|REF_RGD_ID:2317242
8805716	Tk1	thymidine kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8805716	Tk1	thymidine kinase 1	gene	DOID:2893	cervix carcinoma		ISO	RGD:736473	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:11474248|REF_RGD_ID:2317243
8805716	Tk1	thymidine kinase 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:736473	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:15583816|REF_RGD_ID:2317237
8805716	Tk1	thymidine kinase 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:736473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8805716	Tk1	thymidine kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736473	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8805716	Tk1	thymidine kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8805716	Tk1	thymidine kinase 1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:736473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11420682
8805716	Tk1	thymidine kinase 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:736473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8805716	Tk1	thymidine kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8805716	Tk1	thymidine kinase 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:736473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15814641
8805716	Tk1	thymidine kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8805716	Tk1	thymidine kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8805733	Shc4	SHC adaptor protein 4	gene	DOID:1909	melanoma		ISO	RGD:1602620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8805733	Shc4	SHC adaptor protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1602620	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8805733	Shc4	SHC adaptor protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8805749	Bet1	Bet1 golgi vesicular membrane trafficking protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8805749	Bet1	Bet1 golgi vesicular membrane trafficking protein	gene	DOID:0060058	lymphoma		ISO	RGD:732892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8805749	Bet1	Bet1 golgi vesicular membrane trafficking protein	gene	DOID:0061202	congenital muscular dystrophy with rapid progression		ISO	RGD:732892	D	RGD:7240710	20241120	OMIM			
8805749	Bet1	Bet1 golgi vesicular membrane trafficking protein	gene	DOID:0061202	congenital muscular dystrophy with rapid progression		ISO	RGD:732892	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION | ClinVar Annotator: match by term: Muscular dystrophy, congenital, with rapid progression	PMID:25741868
8805749	Bet1	Bet1 golgi vesicular membrane trafficking protein	gene	DOID:0080600	COVID-19		ISO	RGD:732892	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8805749	Bet1	Bet1 golgi vesicular membrane trafficking protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8805749	Bet1	Bet1 golgi vesicular membrane trafficking protein	gene	DOID:1324	lung cancer		ISO	RGD:732892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8805749	Bet1	Bet1 golgi vesicular membrane trafficking protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8805762	Ar	androgen receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8805762	Ar	androgen receptor	gene	DOID:0050741	alcohol dependence		ISO	RGD:735652	D	RGD:9068941	20240921	RGD		DNA:repeat, haplotype:exon	PMID:24271034|REF_RGD_ID:407550222
8805762	Ar	androgen receptor	gene	DOID:0050741	alcohol dependence	severity	ISO	RGD:735652	D	RGD:9068941	20240803	RGD		DNA:repeats:N-terminal	PMID:19231085|REF_RGD_ID:407424612
8805762	Ar	androgen receptor	gene	DOID:0050856	oppositional defiant disorder		ISO	RGD:735652	D	RGD:9068941	20200609	RGD		associated with Tourette Syndrome;DNA:repeats, haplotypes	PMID:10380986|REF_RGD_ID:6907129
8805762	Ar	androgen receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8805762	Ar	androgen receptor	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:735652	D	RGD:9068941	20200609	RGD			PMID:17543076|REF_RGD_ID:1643341
8805762	Ar	androgen receptor	gene	DOID:0060161	Kennedy's disease		ISO	RGD:735652	D	RGD:7240710	20260527	OMIM			
8805762	Ar	androgen receptor	gene	DOID:0060161	Kennedy's disease		ISO	RGD:735652	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: KENNEDY SPINAL AND BULBAR MUSCULAR ATROPHY | ClinVar Annotator: match by term: Kennedy disease | ClinVar Annotator: match by term: Kennedy spinal and bulbar muscular atrophy	PMID:10221692|PMID:10359561|PMID:10458483|PMID:10502786|PMID:10571951|PMID:10690872|PMID:10787411|PMID:10840043|PMID:10852459|PMID:10946887|PMID:11397856|PMID:1158706|PMID:11788616|PMID:11788673|PMID:12213902|PMID:12705360|PMID:12843171|PMID:1303262|PMID:1307250|PMID:13680382|PMID:1430233|PMID:1480178|PMID:1487249|PMID:14974091|PMID:15925895|PMID:16083860|PMID:1609793|PMID:16450583|PMID:1775137|PMID:17970778|PMID:18710728|PMID:19463997|PMID:20011049|PMID:20150575|PMID:20305676|PMID:20671138|PMID:2082179|PMID:22334387|PMID:22403669|PMID:22412043|PMID:2332504|PMID:23637914|PMID:24321103|PMID:24737579|PMID:25241384|PMID:25500996|PMID:25613104|PMID:25741868|PMID:2594783|PMID:26688387|PMID:26806084|PMID:27051040|PMID:27267075|PMID:27284311|PMID:27583472|PMID:27854360|PMID:27899157|PMID:28186600|PMID:28261839|PMID:28492532|PMID:28611373|PMID:28624954|PMID:28659371|PMID:28743543|PMID:28879700|PMID:29051026|PMID:29237170|PMID:29758562|PMID:30496128|PMID:30599484|PMID:31180159|PMID:31219235|PMID:31499074|PMID:32345305|PMID:32985417|PMID:33505695|PMID:33548461|PMID:33863387|PMID:34152287|PMID:34276780|PMID:34333495|PMID:34689141|PMID:35101336|PMID:35561789|PMID:35809576|PMID:35974208|PMID:36394509|PMID:38938059|PMID:689|PMID:7581399|PMID:7671849|PMID:7981687|PMID:7981689|PMID:8033918|PMID:8040309|PMID:8097257|PMID:8628719|PMID:8723113|PMID:8824883|PMID:8990010|PMID:9007482|PMID:9332480|PMID:9345099|PMID:9543136|PMID:9544375|PMID:9554754|PMID:9627582|PMID:9698822|PMID:9768671|PMID:9921903
8805762	Ar	androgen receptor	gene	DOID:0060161	Kennedy's disease	treatment	ISO	RGD:735652	D	RGD:9068941	20200609	RGD			PMID:26942099|REF_RGD_ID:11576229
8805762	Ar	androgen receptor	gene	DOID:0060250	idiopathic scoliosis		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AIS	
8805762	Ar	androgen receptor	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:735652	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:1316540|PMID:25741868|PMID:28492532|PMID:35690514|PMID:35809576|PMID:36099812
8805762	Ar	androgen receptor	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	severity	ISO	RGD:2147	D	RGD:9068941	20240808	RGD			PMID:11447013|REF_RGD_ID:407424619
8805762	Ar	androgen receptor	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	ameliorates	ISO	RGD:10187	D	RGD:9068941	20240803	RGD			PMID:36555703|REF_RGD_ID:407424611
8805762	Ar	androgen receptor	gene	DOID:0080775	complete androgen insensitivity syndrome		ISO	RGD:735652	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Complete androgen insensitivity syndrome	PMID:25741868
8805762	Ar	androgen receptor	gene	DOID:0080776	partial androgen insensitivity syndrome		ISO	RGD:735652	D	RGD:7240710	20260527	OMIM			
8805762	Ar	androgen receptor	gene	DOID:0080776	partial androgen insensitivity syndrome		ISO	RGD:735652	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANDROGEN INSENSITIVITY, PARTIAL | ClinVar Annotator: match by term: ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER | ClinVar Annotator: match by term: Partial androgen insensitivity syndrome | ClinVar Annotator: match by term: Reifenstein syndrome	PMID:10221692|PMID:10502786|PMID:10946887|PMID:11788616|PMID:11788673|PMID:1303262|PMID:1307250|PMID:1430233|PMID:15109605|PMID:15925895|PMID:16083860|PMID:16450583|PMID:17970778|PMID:20011049|PMID:20305676|PMID:23637914|PMID:23808476|PMID:24321103|PMID:24737579|PMID:25241384|PMID:25326637|PMID:25740850|PMID:25741868|PMID:2594783|PMID:26688387|PMID:26806084|PMID:27051040|PMID:27267075|PMID:27583472|PMID:27899157|PMID:28186600|PMID:28261839|PMID:28492532|PMID:28611373|PMID:28624954|PMID:28659371|PMID:29237170|PMID:29758562|PMID:30668521|PMID:31219235|PMID:32345305|PMID:32985417|PMID:33750429|PMID:34689141|PMID:7581399|PMID:7671849|PMID:7981687|PMID:8033918|PMID:8040309|PMID:8096390|PMID:8097257|PMID:8325932|PMID:8628719|PMID:8723113|PMID:8824883|PMID:9332480|PMID:9345099|PMID:9543136|PMID:9768671|PMID:9921903
8805762	Ar	androgen receptor	gene	DOID:0080909	castration-resistant prostate carcinoma		ISO	RGD:735652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18985049|PMID:24740322|PMID:28500234|PMID:28757136
8805762	Ar	androgen receptor	gene	DOID:0090122	aromatase excess syndrome		ISO	RGD:735652	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gynecomastia, familial	PMID:17970778|PMID:23637914|PMID:25741868|PMID:2594783|PMID:26688387|PMID:26806084|PMID:27583472|PMID:27899157|PMID:28492532|PMID:28611373|PMID:28659371
8805762	Ar	androgen receptor	gene	DOID:0111152	multicentric Castleman disease		ISO	RGD:735652	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TAFRO syndrome	PMID:28492532
8805762	Ar	androgen receptor	gene	DOID:0112177	Mayer-Rokitansky-Kuster-Hauser syndrome		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aplasia of the uterus	PMID:10458483|PMID:10571951|PMID:10690872|PMID:12705360|PMID:1609793|PMID:19463997|PMID:20150575|PMID:2082179|PMID:22334387|PMID:24737579|PMID:25741868|PMID:27284311|PMID:27854360|PMID:28492532|PMID:28624954|PMID:7981689|PMID:8990010|PMID:9627582
8805762	Ar	androgen receptor	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:25741868|PMID:28492532
8805762	Ar	androgen receptor	gene	DOID:10283	prostate cancer		ISO	RGD:735652	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer	PMID:10571951|PMID:10946887|PMID:1307250|PMID:15919721|PMID:17054461|PMID:25741868|PMID:2594783|PMID:26688387|PMID:26806084|PMID:27583472|PMID:28492532|PMID:29095814|PMID:29237170|PMID:29582157|PMID:31277073|PMID:35809576|PMID:7671849|PMID:8628719|PMID:8723113|PMID:9399843|PMID:9921903
8805762	Ar	androgen receptor	gene	DOID:10283	prostate cancer	no_association	ISO	RGD:735652	D	RGD:9068941	20200609	RGD		african-american men	PMID:15479493|REF_RGD_ID:1578686
8805762	Ar	androgen receptor	gene	DOID:10283	prostate cancer	treatment	ISO	RGD:2147	D	RGD:9068941	20200609	RGD			PMID:17049844|REF_RGD_ID:10043311
8805762	Ar	androgen receptor	gene	DOID:10283	prostate cancer	treatment	ISO	RGD:735652	D	RGD:9068941	20200609	RGD			PMID:17049844|REF_RGD_ID:10043311
8805762	Ar	androgen receptor	gene	DOID:10534	stomach cancer		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8805762	Ar	androgen receptor	gene	DOID:10763	hypertension		ISO	RGD:2147	D	RGD:9068941	20200609	RGD			PMID:15746697|REF_RGD_ID:1601245
8805762	Ar	androgen receptor	gene	DOID:10763	hypertension		ISO	RGD:735652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10523385
8805762	Ar	androgen receptor	gene	DOID:10763	hypertension	treatment	ISO	RGD:2147	D	RGD:9068941	20200609	RGD			PMID:12397037|REF_RGD_ID:10043316
8805762	Ar	androgen receptor	gene	DOID:10892	hypospadias		ISO	RGD:735652	D	RGD:9068941	20260709	RGD			PMID:15472213|REF_RGD_ID:1578685
8805762	Ar	androgen receptor	gene	DOID:10892	hypospadias		ISO	RGD:735652	D	RGD:9068941	20260709	RGD		mRNA:decreased expression:mucosa of urethra	PMID:23386417|REF_RGD_ID:11576230
8805762	Ar	androgen receptor	gene	DOID:10907	microcephaly		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:10359561|PMID:22403669|PMID:27899157|PMID:28261839|PMID:28492532|PMID:31180159
8805762	Ar	androgen receptor	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:735652	D	RGD:9068941	20200609	RGD		associated with Tourette Syndrome;DNA:repeats, haplotypes	PMID:10380986|REF_RGD_ID:6907129
8805762	Ar	androgen receptor	gene	DOID:11132	prostatic hypertrophy	treatment	ISO	RGD:2147	D	RGD:9068941	20200609	RGD			PMID:22430536|PMID:24872436|REF_RGD_ID:10043335|REF_RGD_ID:10045676
8805762	Ar	androgen receptor	gene	DOID:1115	sarcoma		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8805762	Ar	androgen receptor	gene	DOID:11383	cryptorchidism		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism | ClinVar Annotator: match by term: cryptorchidism	PMID:20305676|PMID:25741868|PMID:27051040|PMID:27854360|PMID:28261839|PMID:28492532|PMID:29758562|PMID:31219235|PMID:34689141|PMID:7981687|PMID:8033918|PMID:8723113|PMID:9332480
8805762	Ar	androgen receptor	gene	DOID:11476	osteoporosis	treatment	ISO	RGD:10187	D	RGD:9068941	20200609	RGD			PMID:18847323|REF_RGD_ID:10043198
8805762	Ar	androgen receptor	gene	DOID:11476	osteoporosis	treatment	ISO	RGD:2147	D	RGD:9068941	20200609	RGD			PMID:14600402|REF_RGD_ID:10043196
8805762	Ar	androgen receptor	gene	DOID:11612	polycystic ovary syndrome	no_association	ISO	RGD:735652	D	RGD:9068941	20200609	RGD			PMID:15950642|REF_RGD_ID:1578688
8805762	Ar	androgen receptor	gene	DOID:11714	gestational diabetes		ISO	RGD:735652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20421132
8805762	Ar	androgen receptor	gene	DOID:12336	male infertility		ISO	RGD:735652	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Male infertility	PMID:10946887|PMID:1307250|PMID:17970778|PMID:23637914|PMID:25500996|PMID:25741868|PMID:27899157|PMID:28492532|PMID:28611373|PMID:28659371|PMID:29237170|PMID:35809576|PMID:36394509|PMID:7671849|PMID:8628719|PMID:8723113|PMID:9921903
8805762	Ar	androgen receptor	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:735652	D	RGD:9068941	20200609	RGD			PMID:10400640|REF_RGD_ID:1578680
8805762	Ar	androgen receptor	gene	DOID:1240	leukemia		ISO	RGD:735652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19235587
8805762	Ar	androgen receptor	gene	DOID:12698	gynecomastia		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gynecomastia	PMID:10359561|PMID:22403669|PMID:27899157|PMID:28261839|PMID:28492532|PMID:31180159
8805762	Ar	androgen receptor	gene	DOID:127	leiomyoma		ISO	RGD:735652	D	RGD:9068941	20200609	RGD			PMID:15704521|REF_RGD_ID:1578690
8805762	Ar	androgen receptor	gene	DOID:12849	autistic disorder		ISO	RGD:735652	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:19167832
8805762	Ar	androgen receptor	gene	DOID:12995	conduct disorder		ISO	RGD:735652	D	RGD:9068941	20200609	RGD		associated with Tourette Syndrome;DNA:repeats, haplotypes	PMID:10380986|REF_RGD_ID:6907129
8805762	Ar	androgen receptor	gene	DOID:1324	lung cancer		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8805762	Ar	androgen receptor	gene	DOID:1380	endometrial cancer		ISO	RGD:735652	D	RGD:9068941	20200609	RGD			PMID:15721279|REF_RGD_ID:1578689
8805762	Ar	androgen receptor	gene	DOID:13938	amenorrhea		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:10458483|PMID:10571951|PMID:10690872|PMID:12705360|PMID:1609793|PMID:19463997|PMID:20150575|PMID:2082179|PMID:22334387|PMID:24737579|PMID:25741868|PMID:27284311|PMID:27854360|PMID:28492532|PMID:28624954|PMID:7981689|PMID:8990010|PMID:9627582
8805762	Ar	androgen receptor	gene	DOID:14227	azoospermia		ISO	RGD:735652	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Azoospermia	PMID:10946887|PMID:1307250|PMID:17970778|PMID:23637914|PMID:25500996|PMID:25741868|PMID:27899157|PMID:28492532|PMID:28611373|PMID:28659371|PMID:29237170|PMID:35809576|PMID:36394509|PMID:7671849|PMID:8628719|PMID:8723113|PMID:9921903
8805762	Ar	androgen receptor	gene	DOID:14447	gonadal dysgenesis		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gonadal dysgenesis	PMID:25741868
8805762	Ar	androgen receptor	gene	DOID:14449	mixed gonadal dysgenesis		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mixed gonadal dysgenesis	PMID:25741868
8805762	Ar	androgen receptor	gene	DOID:14499	Fabry disease	treatment	ISO	RGD:10187	D	RGD:9068941	20200609	RGD			PMID:25701874|REF_RGD_ID:11576234
8805762	Ar	androgen receptor	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:1430233|PMID:24321103|PMID:24737579|PMID:25741868|PMID:26813233|PMID:28492532|PMID:28879700|PMID:29051026|PMID:31499074|PMID:33505695|PMID:33548461|PMID:33750429|PMID:33863387|PMID:34333495|PMID:35101336|PMID:8097257
8805762	Ar	androgen receptor	gene	DOID:1923	disorder of sexual development		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation	PMID:10359561|PMID:22403669|PMID:25741868|PMID:27899157|PMID:28261839|PMID:28492532|PMID:31180159
8805762	Ar	androgen receptor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:26688387|PMID:28492532|PMID:30599484|PMID:9544375
8805762	Ar	androgen receptor	gene	DOID:2394	ovarian cancer		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532|PMID:35101336|PMID:35729303|PMID:39285472
8805762	Ar	androgen receptor	gene	DOID:2526	prostate adenocarcinoma	treatment	ISO	RGD:2147	D	RGD:9068941	20200609	RGD			PMID:18439064|REF_RGD_ID:10043341
8805762	Ar	androgen receptor	gene	DOID:289	endometriosis	no_association	ISO	RGD:735652	D	RGD:9068941	20200609	RGD			PMID:15120698|REF_RGD_ID:1578684
8805762	Ar	androgen receptor	gene	DOID:3008	invasive ductal carcinoma	severity	ISO	RGD:735652	D	RGD:9068941	20200609	RGD			PMID:16075292|REF_RGD_ID:1643344
8805762	Ar	androgen receptor	gene	DOID:3021	acute kidney failure		ISO	RGD:2147	D	RGD:9068941	20200609	RGD			PMID:24503548|REF_RGD_ID:11570523
8805762	Ar	androgen receptor	gene	DOID:3069	malignant astrocytoma		ISO	RGD:735652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24680642
8805762	Ar	androgen receptor	gene	DOID:3526	cerebral infarction		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AIS	
8805762	Ar	androgen receptor	gene	DOID:3764	Denys-Drash syndrome		ISO	RGD:10187	D	RGD:9068941	20200609	RGD		protein:decreased expression:sertoli cell	PMID:16245160|REF_RGD_ID:1643343
8805762	Ar	androgen receptor	gene	DOID:4674	androgen insensitivity syndrome		ISO	RGD:735652	D	RGD:7240710	20260527	OMIM			
8805762	Ar	androgen receptor	gene	DOID:4674	androgen insensitivity syndrome		ISO	RGD:735652	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AIS | ClinVar Annotator: match by term: ANDROGEN INSENSITIVITY SYNDROME | ClinVar Annotator: match by term: Androgen insensitivity syndrome | ClinVar Annotator: match by term: Androgen resistance syndrome | ClinVar Annotator: match by term: DHTR DEFICIENCY	PMID:10022458|PMID:10092153|PMID:10221692|PMID:10221770|PMID:10359561|PMID:10425033|PMID:10458483|PMID:10502786|PMID:10571951|PMID:10690872|PMID:10787411|PMID:10840043|PMID:10852459|PMID:10946887|PMID:10971094|PMID:11225909|PMID:11260228|PMID:11376111|PMID:11397856|PMID:11549642|PMID:1158706|PMID:11587068|PMID:11788616|PMID:11788645|PMID:11788673|PMID:12068007|PMID:12213902|PMID:12644579|PMID:12705360|PMID:12843171|PMID:1303262|PMID:1307250|PMID:1316540|PMID:13680382|PMID:1430233|PMID:1458719|PMID:14701682|PMID:1480178|PMID:1487249|PMID:14974091|PMID:1508223|PMID:15109605|PMID:15171708|PMID:15266301|PMID:15531547|PMID:15541764|PMID:15925895|PMID:15963062|PMID:16083860|PMID:1609793|PMID:16199547|PMID:16283146|PMID:16365032|PMID:16373394|PMID:16450583|PMID:16470553|PMID:17161333|PMID:17382127|PMID:1750490|PMID:1752359|PMID:17576681|PMID:1775137|PMID:17937062|PMID:17970778|PMID:18406699|PMID:18710728|PMID:19125473|PMID:19463997|PMID:19953479|PMID:20007693|PMID:20011049|PMID:20056211|PMID:20150575|PMID:20305676|PMID:20493947|PMID:2062380|PMID:20671138|PMID:20819612|PMID:2082179|PMID:21520333|PMID:21645389|PMID:21710452|PMID:21962961|PMID:22328501|PMID:22334387|PMID:22403669|PMID:22412043|PMID:22799610|PMID:22995991|PMID:23106833|PMID:2332504|PMID:23637914|PMID:23774508|PMID:24186138|PMID:24229697|PMID:24321103|PMID:24367986|PMID:24737579|PMID:24790346|PMID:25241384|PMID:25433660|PMID:25500996|PMID:25613104|PMID:25633053|PMID:25640679|PMID:25674389|PMID:25741868|PMID:2594783|PMID:26303084|PMID:26352087|PMID:26688387|PMID:26778393|PMID:26806084|PMID:26813233|PMID:26980296|PMID:27051040|PMID:27267075|PMID:27284311|PMID:27403927|PMID:27583472|PMID:27849622|PMID:27854360|PMID:27899157|PMID:27989800|PMID:28186600|PMID:28261839|PMID:28456808|PMID:28492532|PMID:28611373|PMID:28624954|PMID:28659371|PMID:28743543|PMID:28857053|PMID:28879700|PMID:28947719|PMID:29051026|PMID:29095814|PMID:29237170|PMID:29758562|PMID:29785970|PMID:30064134|PMID:30113450|PMID:30165367|PMID:30316867|PMID:30401990|PMID:30496128|PMID:30599484|PMID:30668521|PMID:30773341|PMID:30776193|PMID:30815925|PMID:31180159|PMID:31219235|PMID:31373714|PMID:31429517|PMID:31499074|PMID:3174628|PMID:32229106|PMID:32345305|PMID:32784047|PMID:32985417|PMID:33323969|PMID:33505695|PMID:33514065|PMID:33548461|PMID:33728612|PMID:33750429|PMID:33819955|PMID:33863387|PMID:34152287|PMID:34276780|PMID:34333495|PMID:34689141|PMID:35101336|PMID:35432193|PMID:35445939|PMID:35561789|PMID:35809576|PMID:35974208|PMID:36394509|PMID:36553343|PMID:36708848|PMID:37493574|PMID:38938059|PMID:614|PMID:689|PMID:7581399|PMID:7626493|PMID:7633398|PMID:7641413|PMID:7671849|PMID:7910529|PMID:7970939|PMID:7981687|PMID:7981689|PMID:8033918|PMID:8040309|PMID:8097257|PMID:8126121|PMID:8162033|PMID:8224266|PMID:8240973|PMID:8339746|PMID:8413310|PMID:8628719|PMID:8647313|PMID:8723113|PMID:8809734|PMID:8823308|PMID:8824883|PMID:8990010|PMID:9007482|PMID:9039340|PMID:9196614|PMID:9302173|PMID:9328206|PMID:9332480|PMID:9345099|PMID:9536098|PMID:9543136|PMID:9544375|PMID:9554754|PMID:9576916|PMID:9627582|PMID:9698822|PMID:9768671|PMID:9788719|PMID:9856504|PMID:9886845|PMID:9921903
8805762	Ar	androgen receptor	gene	DOID:48	male reproductive system disease		ISO	RGD:735652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25434310
8805762	Ar	androgen receptor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8805762	Ar	androgen receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805762	Ar	androgen receptor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8805762	Ar	androgen receptor	gene	DOID:630	genetic disease		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10359561|PMID:22403669|PMID:25741868|PMID:27899157|PMID:28261839|PMID:28492532|PMID:31180159
8805762	Ar	androgen receptor	gene	DOID:630	genetic disease		ISO	RGD:735652	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10359561|PMID:1775137|PMID:18710728|PMID:20150575|PMID:22403669|PMID:25741868|PMID:27899157|PMID:28261839|PMID:28492532|PMID:30496128|PMID:31180159|PMID:31499074|PMID:35974208|PMID:38938059|PMID:9554754
8805762	Ar	androgen receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18639551
8805762	Ar	androgen receptor	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:735652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20601956
8805762	Ar	androgen receptor	gene	DOID:9000357	Male Breast Neoplasms		ISO	RGD:735652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1303262|PMID:8281139
8805762	Ar	androgen receptor	gene	DOID:9000357	Male Breast Neoplasms	disease_progression	ISO	RGD:735652	D	RGD:9068941	20200609	RGD			PMID:14555518|REF_RGD_ID:1643345
8805762	Ar	androgen receptor	gene	DOID:9000466	Prostate Cancer, Somatic		ISO	RGD:735652	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PROSTATE CANCER, SOMATIC	PMID:11888926|PMID:22403669|PMID:26760770|PMID:26813233|PMID:28492532|PMID:35101336|PMID:8187068|PMID:9092797
8805762	Ar	androgen receptor	gene	DOID:9000779	Hypospadias 1, X-Linked		ISO	RGD:735652	D	RGD:7240710	20260527	OMIM			
8805762	Ar	androgen receptor	gene	DOID:9000779	Hypospadias 1, X-Linked		ISO	RGD:735652	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HYPOSPADIAS 1, X-LINKED | ClinVar Annotator: match by term: Hypospadias 1, X-linked	PMID:17970778|PMID:20305676|PMID:23637914|PMID:25741868|PMID:2594783|PMID:26688387|PMID:26806084|PMID:27051040|PMID:27583472|PMID:27899157|PMID:28261839|PMID:28492532|PMID:28611373|PMID:28659371|PMID:29758562|PMID:31219235|PMID:34689141|PMID:7981687|PMID:8033918|PMID:8683794|PMID:8723113|PMID:9332480
8805762	Ar	androgen receptor	gene	DOID:9001471	Anorectal Malformations		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anorectal anomaly	PMID:20305676|PMID:25741868|PMID:27051040|PMID:28261839|PMID:28492532|PMID:29758562|PMID:31219235|PMID:34689141|PMID:7981687|PMID:8033918|PMID:8723113|PMID:9332480
8805762	Ar	androgen receptor	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735652	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:11742035|PMID:12237244|PMID:15389811|PMID:15790600|PMID:16266977|PMID:16877366|PMID:16934689|PMID:16998812|PMID:17003774|PMID:17141945|PMID:18829485|PMID:19011039|PMID:20729295|PMID:22610119|PMID:22666205|PMID:23704919|PMID:25062956|PMID:25735316|PMID:25908785|PMID:25970160|PMID:29610475
8805762	Ar	androgen receptor	gene	DOID:9002304	Prostatic Neoplasms	onset	ISO	RGD:10187	D	RGD:9068941	20200609	RGD			PMID:17906287|REF_RGD_ID:2293867
8805762	Ar	androgen receptor	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:735652	D	RGD:9068941	20200609	RGD		DNA:repeat:exon:c.172(CAG)8-34 (human)	PMID:16098017|REF_RGD_ID:10043199
8805762	Ar	androgen receptor	gene	DOID:9003315	Lubs Syndrome		ISO	RGD:735652	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Type I familial incomplete male pseudohermaphroditism	PMID:17970778|PMID:23637914|PMID:25741868|PMID:2594783|PMID:26688387|PMID:26806084|PMID:27583472|PMID:27899157|PMID:28492532|PMID:28611373|PMID:28659371
8805762	Ar	androgen receptor	gene	DOID:9003436	CRYPTOZOOSPERMIA		ISO	RGD:735652	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cryptozoospermia	PMID:28492532
8805762	Ar	androgen receptor	gene	DOID:9003503	Penis Agenesis		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:10359561|PMID:20305676|PMID:22403669|PMID:25741868|PMID:27051040|PMID:27899157|PMID:28261839|PMID:28492532|PMID:29758562|PMID:31180159|PMID:31219235|PMID:34689141|PMID:7981687|PMID:8033918|PMID:8723113|PMID:9332480
8805762	Ar	androgen receptor	gene	DOID:9003555	Androgen Insensitivity Syndrome due to Coactivator Deficiency		ISO	RGD:735652	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency	PMID:10221692|PMID:10359561|PMID:10458483|PMID:10502786|PMID:10840043|PMID:10852459|PMID:10946887|PMID:11788616|PMID:11788673|PMID:12843171|PMID:1303262|PMID:1307250|PMID:13680382|PMID:1430233|PMID:1480178|PMID:1487249|PMID:15925895|PMID:16083860|PMID:16450583|PMID:19463997|PMID:20011049|PMID:20671138|PMID:22334387|PMID:22403669|PMID:22412043|PMID:24321103|PMID:24737579|PMID:25241384|PMID:25741868|PMID:27267075|PMID:27854360|PMID:27899157|PMID:28186600|PMID:28261839|PMID:28492532|PMID:28624954|PMID:28879700|PMID:29051026|PMID:29237170|PMID:31180159|PMID:31499074|PMID:32345305|PMID:32985417|PMID:33505695|PMID:33548461|PMID:33863387|PMID:34333495|PMID:35101336|PMID:7671849|PMID:7981687|PMID:7981689|PMID:8040309|PMID:8097257|PMID:8628719|PMID:8723113|PMID:8824883|PMID:9543136|PMID:9768671|PMID:9921903
8805762	Ar	androgen receptor	gene	DOID:9004914	Postmenopausal Osteoporosis		ISO	RGD:735652	D	RGD:9068941	20200609	RGD			PMID:12593895|REF_RGD_ID:1578682
8805762	Ar	androgen receptor	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:735652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11742035
8805762	Ar	androgen receptor	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:735652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30008631
8805762	Ar	androgen receptor	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:2147	D	RGD:9068941	20200609	RGD			PMID:12150826|REF_RGD_ID:6482679
8805762	Ar	androgen receptor	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:735652	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer | ClinVar Annotator: match by term: PROSTATE CANCER SUSCEPTIBILITY	PMID:10946887|PMID:1307250|PMID:25741868|PMID:2594783|PMID:26688387|PMID:26806084|PMID:27583472|PMID:28492532|PMID:29237170|PMID:7671849|PMID:8628719|PMID:8723113|PMID:9921903
8805762	Ar	androgen receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:10187	D	RGD:9068941	20200609	RGD		protein:decreased expression:pancreatic B cell	PMID:18543106|REF_RGD_ID:2306772
8805762	Ar	androgen receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2147	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:epididymis, prostate gland, testis	PMID:16398356|REF_RGD_ID:2306774
8805762	Ar	androgen receptor	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2147	D	RGD:9068941	20240808	RGD			PMID:31838605|REF_RGD_ID:407424618
8805762	Ar	androgen receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8805762	Ar	androgen receptor	gene	DOID:9007181	Osteoporotic Fractures	susceptibility	ISO	RGD:735652	D	RGD:9068941	20200609	RGD		DNA:repeat:exon:g.6287(CAG)7-34 (human)	PMID:14667136|REF_RGD_ID:10043197
8805762	Ar	androgen receptor	gene	DOID:9007456	Female Infertility		ISO	RGD:735652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23710174
8805762	Ar	androgen receptor	gene	DOID:9007692	Insulin Resistance		ISO	RGD:735652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21444647
8805762	Ar	androgen receptor	gene	DOID:9007692	Insulin Resistance		ISO	RGD:735652	D	RGD:9068941	20200609	RGD			PMID:17332526|REF_RGD_ID:1601244
8805762	Ar	androgen receptor	gene	DOID:9007692	Insulin Resistance		ISO	RGD:735652	D	RGD:9068941	20200609	RGD		associated with Polycystic Ovary Syndrome;DNA:repeat: :CAG	PMID:16793958|REF_RGD_ID:2306773
8805762	Ar	androgen receptor	gene	DOID:9007926	Prostate Cancer, Hereditary, X-Linked 3		ISO	RGD:735652	D	RGD:7240710	20260527	OMIM			
8805762	Ar	androgen receptor	gene	DOID:9007926	Prostate Cancer, Hereditary, X-Linked 3		ISO	RGD:735652	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Prostate cancer, hereditary, X-linked 3	PMID:17970778|PMID:23637914|PMID:25741868|PMID:27899157|PMID:28492532|PMID:28611373|PMID:28659371
8805762	Ar	androgen receptor	gene	DOID:9008385	Vomiting		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:10359561|PMID:22403669|PMID:27899157|PMID:28261839|PMID:28492532|PMID:31180159
8805762	Ar	androgen receptor	gene	DOID:9008824	Sarcopenia	treatment	ISO	RGD:10187	D	RGD:9068941	20200609	RGD			PMID:24177288|REF_RGD_ID:10043306
8805762	Ar	androgen receptor	gene	DOID:9008824	Sarcopenia	treatment	ISO	RGD:2147	D	RGD:9068941	20200609	RGD			PMID:17049844|REF_RGD_ID:10043311
8805762	Ar	androgen receptor	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:735652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21633166|PMID:22174584
8805762	Ar	androgen receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8805762	Ar	androgen receptor	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:10187	D	RGD:9068941	20220825	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
8805762	Ar	androgen receptor	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:735652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:20305676|PMID:25741868|PMID:27051040|PMID:28261839|PMID:28492532|PMID:29758562|PMID:31219235|PMID:34689141|PMID:7981687|PMID:8033918|PMID:8723113|PMID:9332480
8805762	Ar	androgen receptor	gene	DOID:987	alopecia		ISO	RGD:735652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15902657
8805762	Ar	androgen receptor	gene	DOID:9970	obesity		ISO	RGD:10187	D	RGD:9068941	20220825	MouseDO		OMIM:601665	
8805762	Ar	androgen receptor	gene	DOID:9970	obesity	susceptibility	ISO	RGD:735652	D	RGD:9068941	20200609	RGD		DNA:repeats: :GGN, CAG	PMID:12532157|REF_RGD_ID:1601246
8805762	Ar	androgen receptor	gene	DOID:9970	obesity	susceptibility	ISO	RGD:735652	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:repeat: :CAG	PMID:18805913|REF_RGD_ID:2306771
8805780	Rhoa	ras homolog family member A	gene	DOID:0050581	brachydactyly		ISO	RGD:1347797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:28492532|PMID:31570889|PMID:31821646
8805780	Rhoa	ras homolog family member A	gene	DOID:0050665	fetal alcohol syndrome		ISO	RGD:619921	D	RGD:9068941	20200609	RGD		protein:increased activation:neuron, cerebellum	PMID:17109064|REF_RGD_ID:2298867
8805780	Rhoa	ras homolog family member A	gene	DOID:0050749	peripheral T-cell lymphoma		ISO	RGD:1347797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413734|PMID:24413737
8805780	Rhoa	ras homolog family member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8805780	Rhoa	ras homolog family member A	gene	DOID:0060001	withdrawal disorder		ISO	RGD:1347797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30158054
8805780	Rhoa	ras homolog family member A	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:1347797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916
8805780	Rhoa	ras homolog family member A	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:1347797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24584070
8805780	Rhoa	ras homolog family member A	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1347797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532|PMID:31570889|PMID:31821646
8805780	Rhoa	ras homolog family member A	gene	DOID:10488	imperforate anus		ISO	RGD:1347797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:25741868
8805780	Rhoa	ras homolog family member A	gene	DOID:10534	stomach cancer		ISO	RGD:1347797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8805780	Rhoa	ras homolog family member A	gene	DOID:10763	hypertension		ISO	RGD:619921	D	RGD:9068941	20200609	RGD		protein:altered localization:mesenteric artery	PMID:17620967|REF_RGD_ID:1642801
8805780	Rhoa	ras homolog family member A	gene	DOID:1091	tooth disease		ISO	RGD:1347797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31570889
8805780	Rhoa	ras homolog family member A	gene	DOID:10976	membranous glomerulonephritis		ISO	RGD:619921	D	RGD:9068941	20200609	RGD		protein:increased activity:epithelial cell	PMID:17376765|REF_RGD_ID:1642963
8805780	Rhoa	ras homolog family member A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19896475
8805780	Rhoa	ras homolog family member A	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1347797	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder	PMID:12855641|REF_RGD_ID:2298872
8805780	Rhoa	ras homolog family member A	gene	DOID:1115	sarcoma		ISO	RGD:1347797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8805780	Rhoa	ras homolog family member A	gene	DOID:1143	exotropia		ISO	RGD:1347797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:28492532|PMID:31570889|PMID:31821646
8805780	Rhoa	ras homolog family member A	gene	DOID:1148	polydactyly		ISO	RGD:1347797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868|PMID:28492532|PMID:31570889|PMID:31821646
8805780	Rhoa	ras homolog family member A	gene	DOID:11782	astigmatism		ISO	RGD:1347797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:28492532|PMID:31570889|PMID:31821646
8805780	Rhoa	ras homolog family member A	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:619921	D	RGD:9068941	20241226	RGD		mRNA, protein:increased expression:liver	PMID:16492715|REF_RGD_ID:2298879
8805780	Rhoa	ras homolog family member A	gene	DOID:12849	autistic disorder		ISO	RGD:1347797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532|PMID:31570889|PMID:31821646
8805780	Rhoa	ras homolog family member A	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1347797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:24413737|PMID:24584070|PMID:26616858|PMID:27369867|PMID:28522256|PMID:35101336|PMID:38383791|PMID:39388712
8805780	Rhoa	ras homolog family member A	gene	DOID:1596	depressive disorder		ISO	RGD:1347797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532|PMID:31570889|PMID:31821646
8805780	Rhoa	ras homolog family member A	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1347797	D	RGD:9068941	20200609	RGD			PMID:18575772|REF_RGD_ID:2298866
8805780	Rhoa	ras homolog family member A	gene	DOID:1612	breast cancer	severity	ISO	RGD:1347797	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:12237774|REF_RGD_ID:2298874
8805780	Rhoa	ras homolog family member A	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1347797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31570889
8805780	Rhoa	ras homolog family member A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8805780	Rhoa	ras homolog family member A	gene	DOID:2377	multiple sclerosis		ISO	RGD:1347797	D	RGD:9068941	20200609	RGD		protein:increased expression:microglial cell, brain	PMID:17983427|REF_RGD_ID:2298887
8805780	Rhoa	ras homolog family member A	gene	DOID:2841	asthma		ISO	RGD:619921	D	RGD:9068941	20200609	RGD			PMID:18391481|REF_RGD_ID:2298885
8805780	Rhoa	ras homolog family member A	gene	DOID:305	carcinoma		ISO	RGD:1347797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24816255
8805780	Rhoa	ras homolog family member A	gene	DOID:3459	breast carcinoma		ISO	RGD:1347797	D	RGD:9068941	20200609	RGD			PMID:17007568|REF_RGD_ID:2298868
8805780	Rhoa	ras homolog family member A	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1347797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25783350
8805780	Rhoa	ras homolog family member A	gene	DOID:4001	ovarian carcinoma	disease_progression	ISO	RGD:1347797	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:ovary	PMID:12808121|REF_RGD_ID:2298873
8805780	Rhoa	ras homolog family member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805780	Rhoa	ras homolog family member A	gene	DOID:576	proteinuria		ISO	RGD:1347797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19955829
8805780	Rhoa	ras homolog family member A	gene	DOID:630	genetic disease		ISO	RGD:1347797	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8805780	Rhoa	ras homolog family member A	gene	DOID:6432	pulmonary hypertension		ISO	RGD:619921	D	RGD:9068941	20200609	RGD		protein:altered localization:membrane, artery, lung	PMID:18091588|REF_RGD_ID:2298877
8805780	Rhoa	ras homolog family member A	gene	DOID:6432	pulmonary hypertension		ISO	RGD:619921	D	RGD:9068941	20200609	RGD		protein:altered localization:pulmonary artery	PMID:16322374|REF_RGD_ID:1642819
8805780	Rhoa	ras homolog family member A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8805780	Rhoa	ras homolog family member A	gene	DOID:83	cataract		ISO	RGD:1347797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868|PMID:28492532|PMID:31570889|PMID:31821646
8805780	Rhoa	ras homolog family member A	gene	DOID:8501	fundus dystrophy		ISO	RGD:1347797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532|PMID:31570889|PMID:31821646
8805780	Rhoa	ras homolog family member A	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:619921	D	RGD:9068941	20230401	RGD		mRNA,protein:increased expression:spinal cord:	PMID:27893610|REF_RGD_ID:243048440
8805780	Rhoa	ras homolog family member A	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1347797	D	RGD:9068941	20200609	RGD		associated with Bladder Neoplasms;protein:increased expression:lymph node	PMID:12855641|REF_RGD_ID:2298872
8805780	Rhoa	ras homolog family member A	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1347797	D	RGD:9068941	20200609	RGD		associated with colorectal cancer	PMID:17597401|REF_RGD_ID:13432052
8805780	Rhoa	ras homolog family member A	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1347797	D	RGD:9068941	20230608	CTD		CTD Direct Evidence: marker/mechanism	PMID:15448013|PMID:24816253|PMID:24816255|PMID:36914835
8805780	Rhoa	ras homolog family member A	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:1347797	D	RGD:9068941	20200609	RGD		protein:increased expression:testis	PMID:15269155|REF_RGD_ID:2298869
8805780	Rhoa	ras homolog family member A	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms	disease_progression	ISO	RGD:1347797	D	RGD:9068941	20200609	RGD		mRNA:increased expression:testis	PMID:11872041|REF_RGD_ID:2298875
8805780	Rhoa	ras homolog family member A	gene	DOID:9000784	Fibrosis		ISO	RGD:619921	D	RGD:9068941	20200609	RGD		associated with Hypertension;protein:increased activation:heart	PMID:17184496|REF_RGD_ID:1642810
8805780	Rhoa	ras homolog family member A	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1347797	D	RGD:9068941	20200609	RGD		associated with Ovarian Neoplasms	PMID:12808121|REF_RGD_ID:2298873
8805780	Rhoa	ras homolog family member A	gene	DOID:9000998	Brain Injuries		ISO	RGD:619921	D	RGD:9068941	20200609	RGD		protein:increased expression:microglial cell, brain	PMID:17929039|REF_RGD_ID:2298888
8805780	Rhoa	ras homolog family member A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:619921	D	RGD:9068941	20241226	RGD		mRNA, protein:increased expression:liver	PMID:17596891|REF_RGD_ID:1642803
8805780	Rhoa	ras homolog family member A	gene	DOID:9001734	Neurocutaneous Syndromes		ISO	RGD:1347797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31570889
8805780	Rhoa	ras homolog family member A	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1347797	D	RGD:9068941	20231102	RGD		mRNA:increased expression:nephron tubule (human)	PMID:35592524|REF_RGD_ID:401851916
8805780	Rhoa	ras homolog family member A	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1347797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31570889
8805780	Rhoa	ras homolog family member A	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	severity	ISO	RGD:619921	D	RGD:9068941	20200609	RGD		protein:increased expression:microglial cell, brain	PMID:17983427|REF_RGD_ID:2298887
8805780	Rhoa	ras homolog family member A	gene	DOID:9003047	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES		ISO	RGD:1347797	D	RGD:7240710	20210818	OMIM			
8805780	Rhoa	ras homolog family member A	gene	DOID:9003047	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES		ISO	RGD:1347797	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES, SOMATIC MOSAIC | ClinVar Annotator: match by term: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | ClinVar Annotator: match by term: RHOA-related disorder	PMID:25741868|PMID:28492532|PMID:31570889|PMID:31821646|PMID:39434542
8805780	Rhoa	ras homolog family member A	gene	DOID:9003507	Premature Birth		ISO	RGD:1347797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532|PMID:31570889|PMID:31821646
8805780	Rhoa	ras homolog family member A	gene	DOID:9003936	Cardiomegaly		ISO	RGD:619921	D	RGD:9068941	20200609	RGD		associated with Hypertension;protein:increased activation:heart	PMID:17184496|REF_RGD_ID:1642810
8805780	Rhoa	ras homolog family member A	gene	DOID:9003936	Cardiomegaly		ISO	RGD:731060	D	RGD:9068941	20200609	RGD		protein:increased expression:cardiac muscle cell	PMID:17316608|REF_RGD_ID:1642807
8805780	Rhoa	ras homolog family member A	gene	DOID:9004253	Immunoblastic Lymphadenopathy		ISO	RGD:1347797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413737|PMID:24584070
8805780	Rhoa	ras homolog family member A	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1347797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19896475
8805780	Rhoa	ras homolog family member A	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:619921	D	RGD:9068941	20200609	RGD			PMID:17316608|REF_RGD_ID:1642807
8805780	Rhoa	ras homolog family member A	gene	DOID:9004643	Urologic Neoplasms	disease_progression	ISO	RGD:1347797	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:renal/urinary system	PMID:12581011|REF_RGD_ID:1547861
8805780	Rhoa	ras homolog family member A	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1347797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30158054
8805780	Rhoa	ras homolog family member A	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:619921	D	RGD:9068941	20200609	RGD			PMID:17589825|REF_RGD_ID:1642825
8805780	Rhoa	ras homolog family member A	gene	DOID:9005660	Hypopigmentation		ISO	RGD:1347797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31570889
8805780	Rhoa	ras homolog family member A	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1347797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25783350
8805780	Rhoa	ras homolog family member A	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:619921	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal ganglion, macrophage, T cell	PMID:17367505|REF_RGD_ID:1642966
8805780	Rhoa	ras homolog family member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8805780	Rhoa	ras homolog family member A	gene	DOID:9007828	Abnormalities, Drug-Induced		ISO	RGD:1347797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25783350
8805780	Rhoa	ras homolog family member A	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:619921	D	RGD:9068941	20200609	RGD		protein:altered localization:heart	PMID:17322412|REF_RGD_ID:1642967
8805780	Rhoa	ras homolog family member A	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:619921	D	RGD:9068941	20200609	RGD		protein:increased expression, altered localization:retina	PMID:17534117|REF_RGD_ID:1642826
8805780	Rhoa	ras homolog family member A	gene	DOID:9008189	Pyelectasis		ISO	RGD:1347797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:25741868
8805780	Rhoa	ras homolog family member A	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1347797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31570889
8805780	Rhoa	ras homolog family member A	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1347797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868|PMID:28492532|PMID:31570889|PMID:31821646
8805780	Rhoa	ras homolog family member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8805780	Rhoa	ras homolog family member A	gene	DOID:9256	colorectal cancer		ISO	RGD:1347797	D	RGD:9068941	20200609	RGD			PMID:17597401|REF_RGD_ID:13432052
8805780	Rhoa	ras homolog family member A	gene	DOID:9408	acute myocardial infarction	ameliorates	ISO	RGD:619921	D	RGD:9068941	20230420	RGD			PMID:32068187|REF_RGD_ID:267358468
8805780	Rhoa	ras homolog family member A	gene	DOID:987	alopecia		ISO	RGD:1347797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31570889
8805780	Rhoa	ras homolog family member A	gene	DOID:9970	obesity		ISO	RGD:619921	D	RGD:9068941	20200609	RGD		protein:increased expression:membrane, aorta, skeletal muscle	PMID:16267124|REF_RGD_ID:2298881
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:0051061	stroke		ISO	RGD:621675	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebral cortex	PMID:9472898|REF_RGD_ID:2290356
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:0080207	congenital anomalies of the kidney and urinary tract 2	treatment	ISO	RGD:1347215	D	RGD:9068941	20200609	RGD			PMID:27448803|REF_RGD_ID:13204792
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:621675	D	RGD:9068941	20240727	RGD			PMID:33315911|REF_RGD_ID:407420266
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:0080600	COVID-19		ISO	RGD:1347215	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:10588	adrenoleukodystrophy	severity	ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:23185624|REF_RGD_ID:13204814
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:placenta	PMID:17083831|REF_RGD_ID:2290399
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:10763	hypertension		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21051829
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:10763	hypertension		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:decreased expression:glomerulus	PMID:19506087|REF_RGD_ID:2312464
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:10763	hypertension		ISO	RGD:621675	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney	PMID:17977875|REF_RGD_ID:2290351
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:10808	gastric ulcer		ISO	RGD:621675	D	RGD:9068941	20200609	RGD		mRNA:increased expression:stomach	PMID:15375341|REF_RGD_ID:10043177
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:10941	intracranial aneurysm		ISO	RGD:621675	D	RGD:9068941	20200609	RGD			PMID:17569872|REF_RGD_ID:2290352
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:114	heart disease		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23558518
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:114	heart disease		ISO	RGD:621675	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:heart	PMID:19134282|REF_RGD_ID:2312465
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:13378	Kawasaki disease		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:12626459|REF_RGD_ID:1580170
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:13580	cholestasis		ISO	RGD:621675	D	RGD:9068941	20200609	RGD			PMID:8707259|REF_RGD_ID:2290364
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28789951
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:decreased expression:aorta (human)	PMID:16820601|REF_RGD_ID:1582351
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23274713
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:14250	Down syndrome		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD			PMID:24519975|REF_RGD_ID:13204810
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:1485	cystic fibrosis		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:25545245|REF_RGD_ID:13204794
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:breast	PMID:17114213|PMID:17478562|REF_RGD_ID:2290345|REF_RGD_ID:2290348
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18172859|REF_RGD_ID:2290343
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:178	vascular disease		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17569694
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:178	vascular disease		ISO	RGD:621675	D	RGD:9068941	20200609	RGD			PMID:17569694|REF_RGD_ID:2290353
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:182	calcinosis		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:1936	atherosclerosis	ameliorates	ISO	RGD:731433	D	RGD:9068941	20230330	RGD			PMID:31757932|REF_RGD_ID:242905202
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:2006	preretinal fibrosis		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD			PMID:11004090|REF_RGD_ID:2312481
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:2378	relapsing-remitting multiple sclerosis	treatment	ISO	RGD:1347215	D	RGD:9068941	20200609	RGD			PMID:16412833|REF_RGD_ID:13204825
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17695443|REF_RGD_ID:2298520
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:16901349|REF_RGD_ID:2290349
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:2871	endometrial carcinoma	disease_progression	ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:12487935|REF_RGD_ID:2298523
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:3083	chronic obstructive pulmonary disease	treatment	ISO	RGD:621675	D	RGD:9068941	20200609	RGD			PMID:25842729|REF_RGD_ID:13207319
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21468558
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:621675	D	RGD:9068941	20200609	RGD			PMID:23318412|REF_RGD_ID:13204970
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:4079	heart valve disease		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:417	autoimmune disease		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25055964
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:11595703|REF_RGD_ID:2290350
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:57	aortic valve insufficiency		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21216836
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:5773	oral submucous fibrosis		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16311067
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:6000	congestive heart failure		ISO	RGD:621675	D	RGD:9068941	20200609	RGD		protein:increased expression:heart left ventricle	PMID:10773234|REF_RGD_ID:2290467
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:799	varicose veins		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17643059
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:893	Wilson disease		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26241054
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:90	degenerative disc disease	treatment	ISO	RGD:621675	D	RGD:9068941	20200609	RGD		associated with Renal Insufficiency	PMID:19063844|REF_RGD_ID:10043178
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		associated with Endometrial Neoplasms;protein:increased expression:endometrium	PMID:12487935|REF_RGD_ID:2298523
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;protein:increased expression:plasma	PMID:17407159|REF_RGD_ID:2290346
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:621675	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain, astrocytes	PMID:10719361|REF_RGD_ID:2290468
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16507762|PMID:16718785|PMID:16762003|PMID:21163135|PMID:25380136
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:621675	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:8707259|REF_RGD_ID:2290364
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:621675	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:dorsal root ganglion	PMID:16683235|REF_RGD_ID:1600154
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9001708	Hemorrhagic Shock	treatment	ISO	RGD:621675	D	RGD:9068941	20230803	RGD			PMID:16141011|REF_RGD_ID:401717565
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9002739	Female Urogenital Diseases		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16002989
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9002884	Emphysema	treatment	ISO	RGD:621675	D	RGD:9068941	20200609	RGD			PMID:22633097|REF_RGD_ID:13207325
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:1318976
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9005372	Inflammation		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17569694
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21963884
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD			PMID:17192464|REF_RGD_ID:2312467
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:621675	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:17569353|REF_RGD_ID:2290354
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21051829
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9007480	Hyperoxia		ISO	RGD:621675	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:15128910|REF_RGD_ID:8547972
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9279	hyperhomocysteinemia	treatment	ISO	RGD:731433	D	RGD:9068941	20200609	RGD			PMID:24739303|REF_RGD_ID:13204791
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:decreased expression:glomerulus	PMID:19506087|REF_RGD_ID:2312464
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16023759
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16005367|REF_RGD_ID:1580148
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9446	cholangitis		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25055964
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17020653|REF_RGD_ID:2312468
8805802	Timp1	TIMP metallopeptidase inhibitor 1	gene	DOID:9970	obesity		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:17512313|REF_RGD_ID:1642026
8805844	Ust	uronyl 2-sulfotransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8805844	Ust	uronyl 2-sulfotransferase	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1312363	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
8805844	Ust	uronyl 2-sulfotransferase	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1312363	D	RGD:9068941	20231109	RGD		DNA:SNP:CDS:mutiple (human)	PMID:35642741|REF_RGD_ID:401854249
8805844	Ust	uronyl 2-sulfotransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8805844	Ust	uronyl 2-sulfotransferase	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1312363	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8805844	Ust	uronyl 2-sulfotransferase	gene	DOID:289	endometriosis		ISO	RGD:1312363	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
8805859	Pclaf	PCNA clamp associated factor	gene	DOID:10534	stomach cancer		ISO	RGD:1353661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8805859	Pclaf	PCNA clamp associated factor	gene	DOID:1909	melanoma		ISO	RGD:1353661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8805859	Pclaf	PCNA clamp associated factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1353661	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8805859	Pclaf	PCNA clamp associated factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8805859	Pclaf	PCNA clamp associated factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353661	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8805859	Pclaf	PCNA clamp associated factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8805859	Pclaf	PCNA clamp associated factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8805883	Clybl	citramalyl-CoA lyase	gene	DOID:4362	cervical cancer		ISO	RGD:1312156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8805897	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8805897	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8805897	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8805897	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8805897	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8805897	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8805897	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8805897	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8805897	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314357	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8805897	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805897	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8805897	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8805897	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8805946	Aurkaip1	aurora kinase A interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8805946	Aurkaip1	aurora kinase A interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606265	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8805946	Aurkaip1	aurora kinase A interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8805961	Ddx51	DEAD-box helicase 51	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8805961	Ddx51	DEAD-box helicase 51	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8805961	Ddx51	DEAD-box helicase 51	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8805961	Ddx51	DEAD-box helicase 51	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1319993	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:26928227
8805961	Ddx51	DEAD-box helicase 51	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8805961	Ddx51	DEAD-box helicase 51	gene	DOID:3070	high grade glioma		ISO	RGD:1319993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8805961	Ddx51	DEAD-box helicase 51	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8805961	Ddx51	DEAD-box helicase 51	gene	DOID:6039	uveal melanoma		ISO	RGD:1319993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8805961	Ddx51	DEAD-box helicase 51	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8805961	Ddx51	DEAD-box helicase 51	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8805961	Ddx51	DEAD-box helicase 51	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8805981	Cstf2	cleavage stimulation factor subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8805981	Cstf2	cleavage stimulation factor subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8805981	Cstf2	cleavage stimulation factor subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8805981	Cstf2	cleavage stimulation factor subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1351144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8805981	Cstf2	cleavage stimulation factor subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8805981	Cstf2	cleavage stimulation factor subunit 2	gene	DOID:9008931	X-Linked Intellectual Developmental Disorder 113		ISO	RGD:1351144	D	RGD:7240710	20240214	OMIM			
8805981	Cstf2	cleavage stimulation factor subunit 2	gene	DOID:9008931	X-Linked Intellectual Developmental Disorder 113		ISO	RGD:1351144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 113	PMID:25741868|PMID:32816001
8805981	Cstf2	cleavage stimulation factor subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8805981	Cstf2	cleavage stimulation factor subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8806010	CUNH1orf210	chromosome unknown C1orf210 homolog	gene	DOID:2394	ovarian cancer		ISO	RGD:1603568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8806010	CUNH1orf210	chromosome unknown C1orf210 homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603568	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8806010	CUNH1orf210	chromosome unknown C1orf210 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8806010	CUNH1orf210	chromosome unknown C1orf210 homolog	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1305347	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8806032	Megf8	multiple EGF like domains 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8806032	Megf8	multiple EGF like domains 8	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:737435	D	RGD:9068941	20220825	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
8806032	Megf8	multiple EGF like domains 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8806032	Megf8	multiple EGF like domains 8	gene	DOID:0060234	Carpenter syndrome		ISO	RGD:737434	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Carpenter syndrome	
8806032	Megf8	multiple EGF like domains 8	gene	DOID:0060321	umbilical hernia		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
8806032	Megf8	multiple EGF like domains 8	gene	DOID:0061099	Carpenter syndrome 2		ISO	RGD:737434	D	RGD:7240710	20180130	OMIM			
8806032	Megf8	multiple EGF like domains 8	gene	DOID:0061099	Carpenter syndrome 2		ISO	RGD:737434	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARPENTER SYNDROME 2 | ClinVar Annotator: match by term: Carpenter syndrome 2 | ClinVar Annotator: match by term: MEGF8-related condition	PMID:25741868|PMID:28492532|PMID:29168297
8806032	Megf8	multiple EGF like domains 8	gene	DOID:10534	stomach cancer		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8806032	Megf8	multiple EGF like domains 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8806032	Megf8	multiple EGF like domains 8	gene	DOID:1115	sarcoma		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
8806032	Megf8	multiple EGF like domains 8	gene	DOID:11383	cryptorchidism		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
8806032	Megf8	multiple EGF like domains 8	gene	DOID:1324	lung cancer		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8806032	Megf8	multiple EGF like domains 8	gene	DOID:1909	melanoma		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8806032	Megf8	multiple EGF like domains 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8806032	Megf8	multiple EGF like domains 8	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8806032	Megf8	multiple EGF like domains 8	gene	DOID:4362	cervical cancer		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8806032	Megf8	multiple EGF like domains 8	gene	DOID:5041	esophageal cancer		ISO	RGD:737434	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
8806032	Megf8	multiple EGF like domains 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8806032	Megf8	multiple EGF like domains 8	gene	DOID:630	genetic disease		ISO	RGD:737434	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8806032	Megf8	multiple EGF like domains 8	gene	DOID:630	genetic disease		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:37853563
8806032	Megf8	multiple EGF like domains 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8806032	Megf8	multiple EGF like domains 8	gene	DOID:9000983	Encephalocele		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalocele	PMID:25741868
8806032	Megf8	multiple EGF like domains 8	gene	DOID:9003507	Premature Birth		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
8806032	Megf8	multiple EGF like domains 8	gene	DOID:9005466	Language Development Disorders		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868
8806032	Megf8	multiple EGF like domains 8	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8806032	Megf8	multiple EGF like domains 8	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8806032	Megf8	multiple EGF like domains 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8806032	Megf8	multiple EGF like domains 8	gene	DOID:9007661	Dwarfism		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8806032	Megf8	multiple EGF like domains 8	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8806032	Megf8	multiple EGF like domains 8	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:737434	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:23063620|PMID:25741868|PMID:28914635|PMID:29168297
8806032	Megf8	multiple EGF like domains 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8806032	Megf8	multiple EGF like domains 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
8806032	Megf8	multiple EGF like domains 8	gene	DOID:930	orbital disease		ISO	RGD:737434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:732816	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:0112159	autosomal dominant nonsyndromic deafness 78		ISO	RGD:732816	D	RGD:7240710	20201111	OMIM			
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:0112159	autosomal dominant nonsyndromic deafness 78		ISO	RGD:732816	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 78 | ClinVar Annotator: match by term: Deafness, autosomal dominant 78	PMID:25741868|PMID:28492532
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:732816	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532|PMID:34374074
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:10211	cholelithiasis		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholelithiasis	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:10534	stomach cancer		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:1059	intellectual disability		ISO	RGD:732816	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:10591	pre-eclampsia		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preeclampsia	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:10603	glucose intolerance		ISO	RGD:732816	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22872759
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:10763	hypertension		ISO	RGD:620809	D	RGD:9068941	20200609	RGD			PMID:21814290|REF_RGD_ID:9587757
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:10763	hypertension		ISO	RGD:620809	D	RGD:9068941	20200609	RGD		mRNA:increased expression:aorta	PMID:15020309|REF_RGD_ID:1580582
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:10763	hypertension		ISO	RGD:732816	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17259435
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:10907	microcephaly		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:11914	gastroparesis		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroparesis	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:11963	esophagitis		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophagitis	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:12642	hiatus hernia		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hiatus hernia	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:12849	autistic disorder		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868|PMID:26537360|PMID:26955005|PMID:27900370|PMID:28492532
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:1287	cardiovascular system disease		ISO	RGD:732816	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15135928
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:1324	lung cancer		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:13316	exocrine pancreatic insufficiency		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: pancreatic insufficiency	
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:1826	epilepsy		ISO	RGD:732816	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: seizure	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:1909	melanoma		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:1969	cerebral palsy		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:620809	D	RGD:9068941	20200609	RGD			PMID:27798271|REF_RGD_ID:14398833
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:2355	anemia		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:2394	ovarian cancer		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:2846	bruxism		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bruxism	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:305	carcinoma		ISO	RGD:732816	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:732816	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19674083
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:3390	palmoplantar keratosis		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Palmoplantar keratoderma	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:732816	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:27798271|REF_RGD_ID:14398833
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:620809	D	RGD:9068941	20200609	RGD			PMID:12535773|REF_RGD_ID:1580583
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:4080	tricuspid valve insufficiency		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tricuspid regurgitation	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:480	movement disease		ISO	RGD:732816	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15135928
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:552	pneumonia		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:630	genetic disease		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:2754646|PMID:28492532|PMID:28940097|PMID:30740830|PMID:32754646
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:732816	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9001502	Congenital Microtia		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9001581	Constipation		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732816	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9003507	Premature Birth		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9004034	Alacrima		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alacrima	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:732816	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hearing loss	PMID:32294086|PMID:32658972
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:732816	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss	PMID:25741868|PMID:28492532|PMID:32294086|PMID:32658972
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9004923	Delpire-McNeill Syndrome		ISO	RGD:732816	D	RGD:7240710	20201111	OMIM			
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9004923	Delpire-McNeill Syndrome		ISO	RGD:732816	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DELPIRE-MCNEILL SYNDROME | ClinVar Annotator: match by term: Delpire-McNeill syndrome	PMID:25741868|PMID:28492532|PMID:30311386|PMID:32658972
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9005077	Joint Instability		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:732816	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9006128	Kilquist Syndrome		ISO	RGD:732816	D	RGD:7240710	20201111	OMIM			
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9006128	Kilquist Syndrome		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: KILQUIST SYNDROME | ClinVar Annotator: match by term: Kilquist syndrome	PMID:25741868|PMID:28492532|PMID:30740830|PMID:32294086|PMID:32658972|PMID:32754646|PMID:34226616|PMID:37399495
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9006511	Xerostomia		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Xerostomia	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732816	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9007090	Experimental Seizures	treatment	ISO	RGD:620809	D	RGD:9068941	20241214	RGD			PMID:16227993|REF_RGD_ID:1580584
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9007827	Upper Airway Obstruction		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Upper airway obstruction	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9452	steatotic liver disease		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:25741868
8806078	Slc12a2	solute carrier family 12 member 2	gene	DOID:9574	choanal atresia		ISO	RGD:732816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Choanal atresia	PMID:25741868
8806108	Prob1	proline rich basic protein 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:5486560	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
8806136	Snd1	staphylococcal nuclease and tudor domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8806136	Snd1	staphylococcal nuclease and tudor domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8806136	Snd1	staphylococcal nuclease and tudor domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:733231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8806136	Snd1	staphylococcal nuclease and tudor domain containing 1	gene	DOID:10892	hypospadias		ISO	RGD:733231	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
8806136	Snd1	staphylococcal nuclease and tudor domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:733231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8806136	Snd1	staphylococcal nuclease and tudor domain containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:733231	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:20442744
8806136	Snd1	staphylococcal nuclease and tudor domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:733231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8806136	Snd1	staphylococcal nuclease and tudor domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:733231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8806136	Snd1	staphylococcal nuclease and tudor domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8806136	Snd1	staphylococcal nuclease and tudor domain containing 1	gene	DOID:2843	long QT syndrome		ISO	RGD:733231	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8806136	Snd1	staphylococcal nuclease and tudor domain containing 1	gene	DOID:3307	teratoma		ISO	RGD:733231	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
8806136	Snd1	staphylococcal nuclease and tudor domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8806136	Snd1	staphylococcal nuclease and tudor domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:733231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8806136	Snd1	staphylococcal nuclease and tudor domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733231	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8806136	Snd1	staphylococcal nuclease and tudor domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8806136	Snd1	staphylococcal nuclease and tudor domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8806136	Snd1	staphylococcal nuclease and tudor domain containing 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:733231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8806136	Snd1	staphylococcal nuclease and tudor domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8806136	Snd1	staphylococcal nuclease and tudor domain containing 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:733231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8806136	Snd1	staphylococcal nuclease and tudor domain containing 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:733231	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25940438
8806136	Snd1	staphylococcal nuclease and tudor domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8806136	Snd1	staphylococcal nuclease and tudor domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8806182	Tysnd1	trypsin like peroxisomal matrix peptidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1316504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8806182	Tysnd1	trypsin like peroxisomal matrix peptidase 1	gene	DOID:1324	lung cancer		ISO	RGD:1316504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8806182	Tysnd1	trypsin like peroxisomal matrix peptidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8806182	Tysnd1	trypsin like peroxisomal matrix peptidase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8806182	Tysnd1	trypsin like peroxisomal matrix peptidase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8806191	Erich6	glutamate rich 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8806191	Erich6	glutamate rich 6	gene	DOID:10534	stomach cancer		ISO	RGD:1605578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8806191	Erich6	glutamate rich 6	gene	DOID:1324	lung cancer		ISO	RGD:1605578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8806191	Erich6	glutamate rich 6	gene	DOID:3275	thymoma		ISO	RGD:1605578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8806191	Erich6	glutamate rich 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8806191	Erich6	glutamate rich 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8806214	Ppp6r2	protein phosphatase 6 regulatory subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8806214	Ppp6r2	protein phosphatase 6 regulatory subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8806214	Ppp6r2	protein phosphatase 6 regulatory subunit 2	gene	DOID:0110194	Charcot-Marie-Tooth disease type 4B3		ISO	RGD:1347490	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3	PMID:23749797
8806214	Ppp6r2	protein phosphatase 6 regulatory subunit 2	gene	DOID:10283	prostate cancer		ISO	RGD:1347490	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8806214	Ppp6r2	protein phosphatase 6 regulatory subunit 2	gene	DOID:10283	prostate cancer		ISO	RGD:1347490	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8806214	Ppp6r2	protein phosphatase 6 regulatory subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347490	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8806214	Ppp6r2	protein phosphatase 6 regulatory subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8806214	Ppp6r2	protein phosphatase 6 regulatory subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8806214	Ppp6r2	protein phosphatase 6 regulatory subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8806214	Ppp6r2	protein phosphatase 6 regulatory subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8806214	Ppp6r2	protein phosphatase 6 regulatory subunit 2	gene	DOID:3070	high grade glioma		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8806214	Ppp6r2	protein phosphatase 6 regulatory subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8806214	Ppp6r2	protein phosphatase 6 regulatory subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347490	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8806214	Ppp6r2	protein phosphatase 6 regulatory subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8806214	Ppp6r2	protein phosphatase 6 regulatory subunit 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8806214	Ppp6r2	protein phosphatase 6 regulatory subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8806214	Ppp6r2	protein phosphatase 6 regulatory subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8806214	Ppp6r2	protein phosphatase 6 regulatory subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8806269	Srsf5	serine and arginine rich splicing factor 5	gene	DOID:0060058	lymphoma		ISO	RGD:734021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8806269	Srsf5	serine and arginine rich splicing factor 5	gene	DOID:1115	sarcoma		ISO	RGD:734021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8806269	Srsf5	serine and arginine rich splicing factor 5	gene	DOID:1324	lung cancer		ISO	RGD:734021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8806269	Srsf5	serine and arginine rich splicing factor 5	gene	DOID:1612	breast cancer	severity	ISO	RGD:734021	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast (human)	PMID:17651715|REF_RGD_ID:11039450
8806269	Srsf5	serine and arginine rich splicing factor 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734021	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:colon mucosa (human)	PMID:9865741|REF_RGD_ID:11039405
8806269	Srsf5	serine and arginine rich splicing factor 5	gene	DOID:3602	toxic encephalopathy		ISO	RGD:734021	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
8806269	Srsf5	serine and arginine rich splicing factor 5	gene	DOID:409	liver disease		ISO	RGD:734021	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
8806269	Srsf5	serine and arginine rich splicing factor 5	gene	DOID:4362	cervical cancer		ISO	RGD:734021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8806269	Srsf5	serine and arginine rich splicing factor 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:734021	D	RGD:9068941	20200609	RGD		mRNA:altered expression:kidney (human)	PMID:21082031|REF_RGD_ID:11039407
8806269	Srsf5	serine and arginine rich splicing factor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8806269	Srsf5	serine and arginine rich splicing factor 5	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:734021	D	RGD:9068941	20200609	RGD		associated with Ovarian Neoplasms;mRNA:increased expression:epithelium of female gonad (human)	PMID:23748175|REF_RGD_ID:11039469
8806269	Srsf5	serine and arginine rich splicing factor 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734021	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8806287	Nom1	nucleolar protein with MIF4G domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8806287	Nom1	nucleolar protein with MIF4G domain 1	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1345070	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22474449
8806287	Nom1	nucleolar protein with MIF4G domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8806287	Nom1	nucleolar protein with MIF4G domain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8806287	Nom1	nucleolar protein with MIF4G domain 1	gene	DOID:1909	melanoma		ISO	RGD:1345070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8806287	Nom1	nucleolar protein with MIF4G domain 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8806287	Nom1	nucleolar protein with MIF4G domain 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1345070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8806287	Nom1	nucleolar protein with MIF4G domain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8806287	Nom1	nucleolar protein with MIF4G domain 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8806287	Nom1	nucleolar protein with MIF4G domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8806287	Nom1	nucleolar protein with MIF4G domain 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8806287	Nom1	nucleolar protein with MIF4G domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8806287	Nom1	nucleolar protein with MIF4G domain 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:0060058	lymphoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:0111180	French Canadian Leigh disease		ISO	RGD:1315270	D	RGD:7240710	20180130	OMIM			
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:0111180	French Canadian Leigh disease		ISO	RGD:1315270	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type | ClinVar Annotator: match by term: French-Canadian type Leigh syndrome | ClinVar Annotator: match by term: LRPPRC-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 5, French-Canadian	PMID:12529507|PMID:15139850|PMID:16199547|PMID:17050673|PMID:18414213|PMID:20200222|PMID:21266382|PMID:22494076|PMID:25214534|PMID:25741868|PMID:26510951|PMID:26510952|PMID:26741492|PMID:28492532|PMID:29152527|PMID:31308188|PMID:35242578
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:25741868|PMID:28492532
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:10534	stomach cancer		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:1059	intellectual disability		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:10907	microcephaly		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:1115	sarcoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:11830	myopia		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:12849	autistic disorder		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:1324	lung cancer		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:1596	depressive disorder		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:1826	epilepsy		ISO	RGD:1315270	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:28492532
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:1826	epilepsy		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:1909	melanoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:2030	anxiety disorder		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:2394	ovarian cancer		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:3275	thymoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:3652	Leigh disease		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868|PMID:32972427
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:4362	cervical cancer		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:4667	kyphosis		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:25741868|PMID:28492532
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1315270	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:5723	optic atrophy		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:6039	uveal melanoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:31589614
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:630	genetic disease		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654|PMID:9536098
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:9004507	Hirsutism		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868|PMID:28492532
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:9005616	Micrognathism		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28492532
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:9008023	Memory Disorders		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8806302	Lrpprc	leucine rich pentatricopeptide repeat containing	gene	DOID:9834	hyperopia		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
8806346	Kng1	kininogen 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8806346	Kng1	kininogen 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8806346	Kng1	kininogen 1	gene	DOID:0051061	stroke	susceptibility	ISO	RGD:1603713	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs710446(human)	PMID:26159646|REF_RGD_ID:10411883
8806346	Kng1	kininogen 1	gene	DOID:0060903	thrombosis		ISO	RGD:1603713	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Thrombus	PMID:25741868
8806346	Kng1	kininogen 1	gene	DOID:0080941	acquired angioedema		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9734886
8806346	Kng1	kininogen 1	gene	DOID:0111676	high molecular weight kininogen deficiency		ISO	RGD:1603713	D	RGD:7240710	20180130	OMIM			
8806346	Kng1	kininogen 1	gene	DOID:0111676	high molecular weight kininogen deficiency		ISO	RGD:1603713	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY | ClinVar Annotator: match by term: High molecular weight kininogen deficiency | ClinVar Annotator: match by term: KININOGEN DEFICIENCY, TOTAL | ClinVar Annotator: match by term: KNG1-related condition	PMID:17522339|PMID:25741868|PMID:32202057|PMID:36700498
8806346	Kng1	kininogen 1	gene	DOID:10763	hypertension		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7027322
8806346	Kng1	kininogen 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8806346	Kng1	kininogen 1	gene	DOID:11123	IgA vasculitis		ISO	RGD:1603713	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:26098644|REF_RGD_ID:11059888
8806346	Kng1	kininogen 1	gene	DOID:1205	allergic disease		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11160071
8806346	Kng1	kininogen 1	gene	DOID:1324	lung cancer		ISO	RGD:1603713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8806346	Kng1	kininogen 1	gene	DOID:14735	hereditary angioedema		ISO	RGD:1603713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary angioedema with normal C1Inh	PMID:33114181
8806346	Kng1	kininogen 1	gene	DOID:3021	acute kidney failure		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:3015452|PMID:513486
8806346	Kng1	kininogen 1	gene	DOID:4404	occupational dermatitis		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30685357
8806346	Kng1	kininogen 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8806346	Kng1	kininogen 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:2535056
8806346	Kng1	kininogen 1	gene	DOID:9000197	Edema		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9719496
8806346	Kng1	kininogen 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22248470
8806346	Kng1	kininogen 1	gene	DOID:9000641	Pain		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10445233|PMID:10543429|PMID:1281941|PMID:16076651|PMID:20018876|PMID:29655911|PMID:3951883
8806346	Kng1	kininogen 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18054572
8806346	Kng1	kininogen 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1603713	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :7965C>T (human)	PMID:17065357|REF_RGD_ID:2311541
8806346	Kng1	kininogen 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10401557|PMID:10499367|PMID:10543429|PMID:15626726|PMID:16259764|PMID:16793879|PMID:18234883|PMID:2010815|PMID:2128375|PMID:21521205|PMID:3061568|PMID:7493622|PMID:7582491|PMID:7881729|PMID:9714424|PMID:9720808
8806346	Kng1	kininogen 1	gene	DOID:9002291	Hereditary Angioedema 6		ISO	RGD:1603713	D	RGD:7240710	20210616	OMIM			
8806346	Kng1	kininogen 1	gene	DOID:9002291	Hereditary Angioedema 6		ISO	RGD:1603713	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANGIOEDEMA, HEREDITARY, 6	
8806346	Kng1	kininogen 1	gene	DOID:9002554	Tachycardia		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7027322
8806346	Kng1	kininogen 1	gene	DOID:9003505	Venous Thromboembolism		ISO	RGD:1603713	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs710446 (human)	PMID:25472531|REF_RGD_ID:11059890
8806346	Kng1	kininogen 1	gene	DOID:9005236	Drug Eruptions		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:1371395|PMID:3034372
8806346	Kng1	kininogen 1	gene	DOID:9006024	Hypotension		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10805402|PMID:1334354|PMID:14744816|PMID:16321614|PMID:18084312|PMID:21420289|PMID:2404862|PMID:6675575|PMID:9249246
8806346	Kng1	kininogen 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30685357
8806346	Kng1	kininogen 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8806346	Kng1	kininogen 1	gene	DOID:9007001	Bradycardia		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1281941
8806346	Kng1	kininogen 1	gene	DOID:9007073	Cough		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22693178
8806346	Kng1	kininogen 1	gene	DOID:9007251	Hyperesthesia		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8190269
8806346	Kng1	kininogen 1	gene	DOID:9007278	Anaphylaxis		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7623993
8806346	Kng1	kininogen 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20362651|PMID:30685357
8806346	Kng1	kininogen 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:2535056|PMID:7856280
8806346	Kng1	kininogen 1	gene	DOID:9007925	Sudden Cardiac Death	susceptibility	ISO	RGD:1603713	D	RGD:9068941	20200609	RGD		DNA:SNPs: :	PMID:19716087|REF_RGD_ID:10411885
8806346	Kng1	kininogen 1	gene	DOID:9008511	Extravasation of Diagnostic and Therapeutic Materials		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9622145
8806346	Kng1	kininogen 1	gene	DOID:9009039	Hyperemia		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11837250
8806346	Kng1	kininogen 1	gene	DOID:9719	neovascular inflammatory vitreoretinopathy	severity	ISO	RGD:1603713	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous,serum:	PMID:23808406|REF_RGD_ID:10411880
8806374	Chrm1	cholinergic receptor muscarinic 1	gene	DOID:0050214	Lambert-Eaton myasthenic syndrome		ISO	RGD:731068	D	RGD:9068941	20200609	RGD			PMID:17764462|REF_RGD_ID:5133415
8806374	Chrm1	cholinergic receptor muscarinic 1	gene	DOID:11832	visual epilepsy		ISO	RGD:731068	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:10069499|PMID:11392617|PMID:12091480|PMID:12713643|PMID:8028781
8806374	Chrm1	cholinergic receptor muscarinic 1	gene	DOID:1826	epilepsy		ISO	RGD:731068	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18333967
8806374	Chrm1	cholinergic receptor muscarinic 1	gene	DOID:2316	brain ischemia		ISO	RGD:731068	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18501976
8806374	Chrm1	cholinergic receptor muscarinic 1	gene	DOID:2841	asthma		ISO	RGD:731068	D	RGD:9068941	20200609	RGD			PMID:16931638|REF_RGD_ID:5133416
8806374	Chrm1	cholinergic receptor muscarinic 1	gene	DOID:437	myasthenia gravis		ISO	RGD:731068	D	RGD:9068941	20200609	RGD			PMID:17764462|REF_RGD_ID:5133415
8806374	Chrm1	cholinergic receptor muscarinic 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:731068	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21682298
8806374	Chrm1	cholinergic receptor muscarinic 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:731069	D	RGD:9068941	20200609	RGD			PMID:12483218|REF_RGD_ID:734777
8806398	Acox2	acyl-CoA oxidase 2	gene	DOID:0111067	congenital bile acid synthesis defect 6		ISO	RGD:735528	D	RGD:7240710	20190315	OMIM			
8806398	Acox2	acyl-CoA oxidase 2	gene	DOID:0111067	congenital bile acid synthesis defect 6		ISO	RGD:735528	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACOX2-related condition | ClinVar Annotator: match by term: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 6	PMID:16199547|PMID:17576681|PMID:25741868|PMID:27884763|PMID:28492532|PMID:35395098|PMID:35775617|PMID:9536098
8806398	Acox2	acyl-CoA oxidase 2	gene	DOID:10534	stomach cancer		ISO	RGD:735528	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8806398	Acox2	acyl-CoA oxidase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8806398	Acox2	acyl-CoA oxidase 2	gene	DOID:1115	sarcoma		ISO	RGD:735528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8806398	Acox2	acyl-CoA oxidase 2	gene	DOID:1909	melanoma		ISO	RGD:735528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8806398	Acox2	acyl-CoA oxidase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8806398	Acox2	acyl-CoA oxidase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735528	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8806398	Acox2	acyl-CoA oxidase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8806398	Acox2	acyl-CoA oxidase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8806398	Acox2	acyl-CoA oxidase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8806398	Acox2	acyl-CoA oxidase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:735528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8806420	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:0060653	lethal congenital contracture syndrome 3		ISO	RGD:1320550	D	RGD:7240710	20180130	OMIM			
8806420	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:0060653	lethal congenital contracture syndrome 3		ISO	RGD:1320550	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: LETHAL CONGENITAL CONTRACTURE SYNDROME 3 | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3 | ClinVar Annotator: match by term: PIP5K1C-related condition	PMID:17701898|PMID:25741868|PMID:28492532|PMID:37451268|PMID:38491417
8806420	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:0070199	Miyoshi muscular dystrophy 1		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1	PMID:25741868
8806420	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8806420	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8806420	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:1324	lung cancer		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8806420	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:1909	melanoma		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8806420	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8806420	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:3275	thymoma		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8806420	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8806420	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8806420	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:5041	esophageal cancer		ISO	RGD:1320550	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8806420	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8806420	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8806420	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:630	genetic disease		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8806420	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8806420	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320550	D	RGD:8554872	20240618	ClinVar		ClinVar Annotator: match by term: PIP5K1C-related neurodevelopmental disorder	PMID:37451268
8806420	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8806420	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay	
8806420	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8806450	Tsr3	TSR3 ribosome maturation factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8806450	Tsr3	TSR3 ribosome maturation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8806450	Tsr3	TSR3 ribosome maturation factor	gene	DOID:1909	melanoma		ISO	RGD:1352414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8806450	Tsr3	TSR3 ribosome maturation factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8806450	Tsr3	TSR3 ribosome maturation factor	gene	DOID:3275	thymoma		ISO	RGD:1352414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8806450	Tsr3	TSR3 ribosome maturation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8806450	Tsr3	TSR3 ribosome maturation factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8806450	Tsr3	TSR3 ribosome maturation factor	gene	DOID:630	genetic disease		ISO	RGD:1352414	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8806450	Tsr3	TSR3 ribosome maturation factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8806450	Tsr3	TSR3 ribosome maturation factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8806450	Tsr3	TSR3 ribosome maturation factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8806465	Galnt18	polypeptide N-acetylgalactosaminyltransferase 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8806465	Galnt18	polypeptide N-acetylgalactosaminyltransferase 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8806465	Galnt18	polypeptide N-acetylgalactosaminyltransferase 18	gene	DOID:1115	sarcoma		ISO	RGD:1347297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8806465	Galnt18	polypeptide N-acetylgalactosaminyltransferase 18	gene	DOID:3070	high grade glioma		ISO	RGD:1347297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8806465	Galnt18	polypeptide N-acetylgalactosaminyltransferase 18	gene	DOID:3275	thymoma		ISO	RGD:1347297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8806465	Galnt18	polypeptide N-acetylgalactosaminyltransferase 18	gene	DOID:4362	cervical cancer		ISO	RGD:1347297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8806465	Galnt18	polypeptide N-acetylgalactosaminyltransferase 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1347297	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8806465	Galnt18	polypeptide N-acetylgalactosaminyltransferase 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8806480	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8806480	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1315118	D	RGD:9068941	20200609	RGD		protein:decreased expression:fusiform gyrus	PMID:25627160|REF_RGD_ID:11049140
8806480	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:10534	stomach cancer		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8806480	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8806480	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:1115	sarcoma		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8806480	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:1324	lung cancer		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8806480	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:1470	major depressive disorder		ISO	RGD:1315118	D	RGD:9068941	20200609	RGD		protein:decreased expression:prefrontal cortex	PMID:21635931|REF_RGD_ID:11049139
8806480	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:1909	melanoma		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8806480	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:3275	thymoma		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8806480	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:4362	cervical cancer		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8806480	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8806480	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8806480	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8806480	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8806480	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8806480	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8806480	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8806480	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8806556	LOC102010861	chromosome unknown open reading frame, human C1orf94	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1602848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8806556	LOC102010861	chromosome unknown open reading frame, human C1orf94	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8806556	LOC102010861	chromosome unknown open reading frame, human C1orf94	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1602848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8806577	Ankrd24	ankyrin repeat domain 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8806577	Ankrd24	ankyrin repeat domain 24	gene	DOID:10534	stomach cancer		ISO	RGD:1322819	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8806577	Ankrd24	ankyrin repeat domain 24	gene	DOID:1115	sarcoma		ISO	RGD:1322819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8806577	Ankrd24	ankyrin repeat domain 24	gene	DOID:1324	lung cancer		ISO	RGD:1322819	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8806577	Ankrd24	ankyrin repeat domain 24	gene	DOID:4362	cervical cancer		ISO	RGD:1322819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8806577	Ankrd24	ankyrin repeat domain 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8806577	Ankrd24	ankyrin repeat domain 24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8806577	Ankrd24	ankyrin repeat domain 24	gene	DOID:9256	colorectal cancer		ISO	RGD:1322819	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8806604	Acot12	acyl-CoA thioesterase 12	gene	DOID:1115	sarcoma		ISO	RGD:736721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8806604	Acot12	acyl-CoA thioesterase 12	gene	DOID:3571	liver cancer		ISO	RGD:619752	D	RGD:9068941	20200609	RGD			PMID:2566591|REF_RGD_ID:13831129
8806604	Acot12	acyl-CoA thioesterase 12	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8806604	Acot12	acyl-CoA thioesterase 12	gene	DOID:6039	uveal melanoma		ISO	RGD:736721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8806604	Acot12	acyl-CoA thioesterase 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8806623	Ube2b	ubiquitin conjugating enzyme E2 B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8806623	Ube2b	ubiquitin conjugating enzyme E2 B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8806623	Ube2b	ubiquitin conjugating enzyme E2 B	gene	DOID:5041	esophageal cancer		ISO	RGD:1349526	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8806623	Ube2b	ubiquitin conjugating enzyme E2 B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8806623	Ube2b	ubiquitin conjugating enzyme E2 B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349526	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
8806657	Itgav	integrin subunit alpha V	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8806657	Itgav	integrin subunit alpha V	gene	DOID:0050852	limb ischemia		ISO	RGD:1617623	D	RGD:9068941	20200609	RGD			PMID:15750161|REF_RGD_ID:1582449
8806657	Itgav	integrin subunit alpha V	gene	DOID:0051061	stroke		ISO	RGD:1321618	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9445356
8806657	Itgav	integrin subunit alpha V	gene	DOID:0070720	immune dysregulation, neurodevelopmental defects, and colitis		ISO	RGD:1321618	D	RGD:7240710	20260603	OMIM			
8806657	Itgav	integrin subunit alpha V	gene	DOID:0070720	immune dysregulation, neurodevelopmental defects, and colitis		ISO	RGD:1321618	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNE DYSREGULATION, NEURODEVELOPMENTAL DEFECTS, AND COLITIS	PMID:25741868
8806657	Itgav	integrin subunit alpha V	gene	DOID:10534	stomach cancer		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8806657	Itgav	integrin subunit alpha V	gene	DOID:10763	hypertension		ISO	RGD:1310613	D	RGD:9068941	20200609	RGD		protein:increased expression:artery	PMID:16380536|REF_RGD_ID:1627642
8806657	Itgav	integrin subunit alpha V	gene	DOID:10908	hydrocephalus		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
8806657	Itgav	integrin subunit alpha V	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8806657	Itgav	integrin subunit alpha V	gene	DOID:1115	sarcoma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8806657	Itgav	integrin subunit alpha V	gene	DOID:11382	corneal neovascularization		ISO	RGD:1310613	D	RGD:9068941	20200609	RGD			PMID:10664059|REF_RGD_ID:1582461
8806657	Itgav	integrin subunit alpha V	gene	DOID:1324	lung cancer		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8806657	Itgav	integrin subunit alpha V	gene	DOID:1909	melanoma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8806657	Itgav	integrin subunit alpha V	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8806657	Itgav	integrin subunit alpha V	gene	DOID:3070	high grade glioma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8806657	Itgav	integrin subunit alpha V	gene	DOID:326	ischemia		ISO	RGD:1310613	D	RGD:9068941	20200609	RGD			PMID:15956135|REF_RGD_ID:1582457
8806657	Itgav	integrin subunit alpha V	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8806657	Itgav	integrin subunit alpha V	gene	DOID:4195	hyperglycemia		ISO	RGD:1321618	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood vessel endothelial cell	PMID:11848444|REF_RGD_ID:1627644
8806657	Itgav	integrin subunit alpha V	gene	DOID:4248	coronary stenosis		ISO	RGD:1310613	D	RGD:9068941	20200609	RGD			PMID:11922905|REF_RGD_ID:1582454
8806657	Itgav	integrin subunit alpha V	gene	DOID:4362	cervical cancer		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8806657	Itgav	integrin subunit alpha V	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8806657	Itgav	integrin subunit alpha V	gene	DOID:5041	esophageal cancer		ISO	RGD:1321618	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8806657	Itgav	integrin subunit alpha V	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8806657	Itgav	integrin subunit alpha V	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8806657	Itgav	integrin subunit alpha V	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8806657	Itgav	integrin subunit alpha V	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8806657	Itgav	integrin subunit alpha V	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:1321618	D	RGD:9068941	20200609	RGD			PMID:16809548|REF_RGD_ID:1582446
8806657	Itgav	integrin subunit alpha V	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:1310613	D	RGD:9068941	20230720	RGD		associated with periodontal disease	PMID:33364953|REF_RGD_ID:329956421
8806657	Itgav	integrin subunit alpha V	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:1310613	D	RGD:9068941	20200609	RGD			PMID:15287373|REF_RGD_ID:1582458
8806657	Itgav	integrin subunit alpha V	gene	DOID:9002170	Experimental Neoplasms	treatment	ISO	RGD:1321618	D	RGD:9068941	20220708	RGD		human cells in rat model	PMID:20841470|REF_RGD_ID:152998949
8806657	Itgav	integrin subunit alpha V	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1321618	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9445356
8806657	Itgav	integrin subunit alpha V	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1321618	D	RGD:9068941	20200609	RGD			PMID:16102435|REF_RGD_ID:1582447
8806657	Itgav	integrin subunit alpha V	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8806657	Itgav	integrin subunit alpha V	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:1310613	D	RGD:9068941	20230527	RGD		mRNA:increased expression:carotic artery (rat)	PMID:9622270|REF_RGD_ID:329845558
8806657	Itgav	integrin subunit alpha V	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1321618	D	RGD:9068941	20200609	RGD			PMID:16784924|REF_RGD_ID:1627640
8806657	Itgav	integrin subunit alpha V	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8806657	Itgav	integrin subunit alpha V	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1321618	D	RGD:9068941	20200609	RGD			PMID:11997283|REF_RGD_ID:1582453
8806657	Itgav	integrin subunit alpha V	gene	DOID:9007748	Retinal Neovascularization		ISO	RGD:1617623	D	RGD:9068941	20200609	RGD			PMID:12063036|REF_RGD_ID:1582452
8806657	Itgav	integrin subunit alpha V	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8806657	Itgav	integrin subunit alpha V	gene	DOID:9009121	lung metastasis	treatment	ISO	RGD:1321618	D	RGD:9068941	20220708	RGD		human cells in rat model	PMID:20841470|REF_RGD_ID:152998949
8806657	Itgav	integrin subunit alpha V	gene	DOID:9119	acute myeloid leukemia	treatment	ISO	RGD:1321618	D	RGD:9068941	20200609	RGD			PMID:23770013|REF_RGD_ID:10755448
8806657	Itgav	integrin subunit alpha V	gene	DOID:9256	colorectal cancer		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8806691	Kif1a	kinesin family member 1A	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8806691	Kif1a	kinesin family member 1A	gene	DOID:0050548	hereditary sensory and autonomic neuropathy		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE	PMID:21820098|PMID:22258533|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:28492532|PMID:28554332|PMID:28970574|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452
8806691	Kif1a	kinesin family member 1A	gene	DOID:0050562	West syndrome		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypsarrhythmia | ClinVar Annotator: match by term: Infantile spasms	PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532
8806691	Kif1a	kinesin family member 1A	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar Annotator: match by term: Dysmetria	PMID:25209998|PMID:25741868|PMID:28492532|PMID:29589274|PMID:31488895
8806691	Kif1a	kinesin family member 1A	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165
8806691	Kif1a	kinesin family member 1A	gene	DOID:0050890	synucleinopathy		ISO	RGD:1304996	D	RGD:9068941	20200609	RGD			PMID:19295143|REF_RGD_ID:11049591
8806691	Kif1a	kinesin family member 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8806691	Kif1a	kinesin family member 1A	gene	DOID:0050952	spastic ataxia		ISO	RGD:1312759	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:28492532
8806691	Kif1a	kinesin family member 1A	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sporadic amyotrophic lateral sclerosis	PMID:25741868
8806691	Kif1a	kinesin family member 1A	gene	DOID:0060249	scoliosis		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:21376300|PMID:25253658|PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26467025|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:0060260	ptosis		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28492532|PMID:31488895|PMID:31796088
8806691	Kif1a	kinesin family member 1A	gene	DOID:0060825	Christianson syndrome		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angelman syndrome-like	PMID:25741868
8806691	Kif1a	kinesin family member 1A	gene	DOID:0070039	NESCAV syndrome		ISO	RGD:1312759	D	RGD:7240710	20180130	OMIM			
8806691	Kif1a	kinesin family member 1A	gene	DOID:0070039	NESCAV syndrome		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 9 | ClinVar Annotator: match by term: NESCAV SYNDROME	PMID:16199547|PMID:17576681|PMID:18414213|PMID:21376300|PMID:21820098|PMID:22258533|PMID:25209998|PMID:25253658|PMID:25265257|PMID:25533962|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:26486474|PMID:26994895|PMID:27034427|PMID:27124789|PMID:28106320|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28832565|PMID:28834584|PMID:28970574|PMID:29589274|PMID:29915382|PMID:30144970|PMID:30385166|PMID:30564185|PMID:30582020|PMID:31069529|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31700678|PMID:31785789|PMID:31796088|PMID:31805580|PMID:31813911|PMID:32096284|PMID:32343762|PMID:32737135|PMID:32746806|PMID:32935419|PMID:33717719|PMID:33753861|PMID:33880452|PMID:34015165|PMID:34354735|PMID:34356170|PMID:34445196|PMID:34469436|PMID:34487232|PMID:34782662|PMID:34983064|PMID:35132656|PMID:35917346|PMID:36247768|PMID:36284339|PMID:36305856|PMID:37251230|PMID:37541188|PMID:38785164|PMID:39076207|PMID:41560358|PMID:9536098
8806691	Kif1a	kinesin family member 1A	gene	DOID:0070147	hereditary sensory neuropathy type 2C		ISO	RGD:1312759	D	RGD:7240710	20180130	OMIM			
8806691	Kif1a	kinesin family member 1A	gene	DOID:0070147	hereditary sensory neuropathy type 2C		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC | ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 2C	PMID:16199547|PMID:17576681|PMID:18414213|PMID:21376300|PMID:21820098|PMID:22258533|PMID:25253658|PMID:25265257|PMID:25533962|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:26486474|PMID:26994895|PMID:27034427|PMID:27124789|PMID:28106320|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28832565|PMID:28834584|PMID:28970574|PMID:29915382|PMID:30144970|PMID:30385166|PMID:30564185|PMID:30582020|PMID:31069529|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31700678|PMID:31785789|PMID:31796088|PMID:31805580|PMID:31813911|PMID:32096284|PMID:32343762|PMID:32737135|PMID:32746806|PMID:32935419|PMID:33717719|PMID:33753861|PMID:33880452|PMID:34015165|PMID:34354735|PMID:34356170|PMID:34445196|PMID:34469436|PMID:34487232|PMID:34782662|PMID:34983064|PMID:35132656|PMID:35917346|PMID:36247768|PMID:36284339|PMID:36305856|PMID:37251230|PMID:37541188|PMID:38785164|PMID:39076207|PMID:41560358|PMID:9536098
8806691	Kif1a	kinesin family member 1A	gene	DOID:0070155	hereditary sensory and autonomic neuropathy type 2A		ISO	RGD:1312759	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A	PMID:21820098|PMID:22258533|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:28106320|PMID:28492532|PMID:28554332|PMID:28970574|PMID:30564185|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31700678|PMID:32096284|PMID:32737135|PMID:32860008
8806691	Kif1a	kinesin family member 1A	gene	DOID:0070155	hereditary sensory and autonomic neuropathy type 2A		ISO	RGD:1312759	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A	PMID:21820098|PMID:22258533|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:28106320|PMID:28492532|PMID:28554332|PMID:28970574|PMID:30564185|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31700678|PMID:32096284|PMID:32174959|PMID:32737135|PMID:32860008
8806691	Kif1a	kinesin family member 1A	gene	DOID:0070155	hereditary sensory and autonomic neuropathy type 2A		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A	PMID:21820098|PMID:22258533|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:28492532|PMID:28554332|PMID:28970574|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452
8806691	Kif1a	kinesin family member 1A	gene	DOID:0070161	hereditary sensory and autonomic neuropathy type 2		ISO	RGD:1312759	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type II | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 2	PMID:21820098|PMID:22258533|PMID:25265257|PMID:28492532|PMID:28970574|PMID:31616253
8806691	Kif1a	kinesin family member 1A	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452
8806691	Kif1a	kinesin family member 1A	gene	DOID:0070646	hereditary spastic paraplegia 30B		ISO	RGD:1312759	D	RGD:7240710	20240717	OMIM			
8806691	Kif1a	kinesin family member 1A	gene	DOID:0070646	hereditary spastic paraplegia 30B		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 30B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 30b, autosomal recessive	PMID:22258533|PMID:25741868|PMID:28492532|PMID:28832565|PMID:31785789|PMID:32096284|PMID:33880452|PMID:34445196|PMID:41560358
8806691	Kif1a	kinesin family member 1A	gene	DOID:0070647	hereditary spastic paraplegia 30A		ISO	RGD:1312759	D	RGD:7240710	20240717	OMIM			
8806691	Kif1a	kinesin family member 1A	gene	DOID:0070647	hereditary spastic paraplegia 30A		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 30A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 30A, autosomal dominant	PMID:16199547|PMID:17576681|PMID:18414213|PMID:21376300|PMID:21820098|PMID:22258533|PMID:25253658|PMID:25265257|PMID:25533962|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:26486474|PMID:26994895|PMID:27034427|PMID:27124789|PMID:28106320|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28832565|PMID:28834584|PMID:28970574|PMID:29915382|PMID:30144970|PMID:30385166|PMID:30564185|PMID:30582020|PMID:31069529|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31700678|PMID:31785789|PMID:31796088|PMID:31805580|PMID:31813911|PMID:32096284|PMID:32343762|PMID:32737135|PMID:32746806|PMID:32935419|PMID:33717719|PMID:33753861|PMID:33880452|PMID:34015165|PMID:34356170|PMID:34445196|PMID:34469436|PMID:34487232|PMID:34782662|PMID:34983064|PMID:35917346|PMID:36247768|PMID:36305856|PMID:37251230|PMID:38785164|PMID:39076207|PMID:41560358|PMID:9536098
8806691	Kif1a	kinesin family member 1A	gene	DOID:0080016	spina bifida		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spinal dysraphism	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:0080171	esophageal atresia/tracheoesophageal fistula		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:0080539	PEHO syndrome		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PEHO syndrome	PMID:21376300|PMID:25253658|PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165
8806691	Kif1a	kinesin family member 1A	gene	DOID:0080917	sporadic amyotrophic lateral sclerosis		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sporadic amyotrophic lateral sclerosis	PMID:25741868
8806691	Kif1a	kinesin family member 1A	gene	DOID:0081120	Graves ophthalmopathy		ISO	RGD:1312759	D	RGD:9068941	20200609	RGD			PMID:26451909|REF_RGD_ID:12911230
8806691	Kif1a	kinesin family member 1A	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1312759	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26467025|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165
8806691	Kif1a	kinesin family member 1A	gene	DOID:0110781	hereditary spastic paraplegia 30		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 30	PMID:16199547|PMID:17576681|PMID:18414213|PMID:21376300|PMID:21487076|PMID:21820098|PMID:22258533|PMID:25140959|PMID:25253658|PMID:25265257|PMID:25533962|PMID:25640679|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:26486474|PMID:26752160|PMID:26994895|PMID:27034427|PMID:27124789|PMID:27146152|PMID:27165006|PMID:27956632|PMID:28106320|PMID:28333917|PMID:28362824|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28832565|PMID:28834584|PMID:28970574|PMID:29589274|PMID:29915382|PMID:30144970|PMID:30385166|PMID:30564185|PMID:30582020|PMID:30778698|PMID:31069529|PMID:31227335|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31700678|PMID:31785789|PMID:31796088|PMID:31805580|PMID:31813911|PMID:32096284|PMID:32174959|PMID:32343762|PMID:32631363|PMID:32652677|PMID:32737135|PMID:32746806|PMID:32935419|PMID:33717719|PMID:33753861|PMID:33880452|PMID:34015165|PMID:34234304|PMID:34354735|PMID:34356170|PMID:34445196|PMID:34469436|PMID:34487232|PMID:34782662|PMID:34983064|PMID:35132656|PMID:35917346|PMID:36155026|PMID:36247768|PMID:36284339|PMID:36305856|PMID:37251230|PMID:37541188|PMID:37712079|PMID:37849306|PMID:38105687|PMID:38703036|PMID:38785164|PMID:39076207|PMID:41560358|PMID:9536098
8806691	Kif1a	kinesin family member 1A	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868|PMID:28492532|PMID:31488895|PMID:31796088
8806691	Kif1a	kinesin family member 1A	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:10376	amblyopia		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:10485	esophageal atresia		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aganglionic megacolon	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:10534	stomach cancer		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8806691	Kif1a	kinesin family member 1A	gene	DOID:1059	intellectual disability		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:21376300|PMID:25253658|PMID:25265257|PMID:25326635|PMID:25533962|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26467025|PMID:26486474|PMID:26994895|PMID:28492532|PMID:30144970|PMID:30385166|PMID:31455732|PMID:31488895|PMID:31796088|PMID:31805580|PMID:32096284|PMID:32737135|PMID:33880452|PMID:34015165
8806691	Kif1a	kinesin family member 1A	gene	DOID:1059	intellectual disability		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Profound intellectual disability	PMID:21376300|PMID:25253658|PMID:25265257|PMID:25533962|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26354034|PMID:26486474|PMID:26994895|PMID:27146152|PMID:28333917|PMID:28492532|PMID:28554332|PMID:29915382|PMID:30144970|PMID:30385166|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31796088|PMID:31805580|PMID:32096284|PMID:32737135|PMID:32935419|PMID:33880452|PMID:34015165|PMID:39730866
8806691	Kif1a	kinesin family member 1A	gene	DOID:10629	microphthalmia		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:10892	hypospadias		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:10907	microcephaly		ISO	RGD:1312759	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25265257|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26467025|PMID:26994895|PMID:28492532|PMID:30144970|PMID:30385166|PMID:31455732|PMID:31488895|PMID:31796088|PMID:32096284|PMID:32737135|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26467025|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:11044	gastroschisis		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroschisis	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:11383	cryptorchidism		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:11720	distal myopathy		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:25741868
8806691	Kif1a	kinesin family member 1A	gene	DOID:11836	clubfoot		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:12143	neurogenic bladder		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurogenic bladder	PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452
8806691	Kif1a	kinesin family member 1A	gene	DOID:12270	coloboma		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:12849	autistic disorder		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
8806691	Kif1a	kinesin family member 1A	gene	DOID:12859	choreatic disease		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:1324	lung cancer		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8806691	Kif1a	kinesin family member 1A	gene	DOID:13580	cholestasis		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:1389	polyneuropathy		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:21820098|PMID:25741868|PMID:28492532
8806691	Kif1a	kinesin family member 1A	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1312759	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25741868|PMID:28492532|PMID:28834584|PMID:31455732|PMID:31488895|PMID:31813911|PMID:32737135|PMID:32746806|PMID:32935419|PMID:33880452|PMID:34356170|PMID:34469436|PMID:34487232|PMID:38785164
8806691	Kif1a	kinesin family member 1A	gene	DOID:1826	epilepsy		ISO	RGD:1312759	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868
8806691	Kif1a	kinesin family member 1A	gene	DOID:1826	epilepsy		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:26486474|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:1891	optic nerve disease		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:1923	disorder of sexual development		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:1969	cerebral palsy		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:28492532|PMID:31455732|PMID:31488895|PMID:32737135
8806691	Kif1a	kinesin family member 1A	gene	DOID:2234	focal epilepsy		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452
8806691	Kif1a	kinesin family member 1A	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:2394	ovarian cancer		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8806691	Kif1a	kinesin family member 1A	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1312759	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:21376300|PMID:25265257|PMID:25585697|PMID:25741868|PMID:26077850|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:27034427|PMID:27681307|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28970574|PMID:29159194|PMID:29590070|PMID:31488895|PMID:32096284|PMID:32860008
8806691	Kif1a	kinesin family member 1A	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1312759	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:21376300|PMID:25265257|PMID:25585697|PMID:25741868|PMID:26077850|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:27034427|PMID:27681307|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28970574|PMID:29159194|PMID:29590070|PMID:31488895|PMID:31796088|PMID:32096284|PMID:32860008|PMID:33880452
8806691	Kif1a	kinesin family member 1A	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1312759	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:17576681|PMID:21376300|PMID:25265257|PMID:25585697|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:27034427|PMID:27681307|PMID:28106320|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28970574|PMID:29159194|PMID:29590070|PMID:29691679|PMID:31488895|PMID:31796088|PMID:32096284|PMID:32860008|PMID:33880452|PMID:9536098
8806691	Kif1a	kinesin family member 1A	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1312759	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:17576681|PMID:21376300|PMID:22258533|PMID:25265257|PMID:25585697|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:27034427|PMID:27681307|PMID:28106320|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28927378|PMID:28970574|PMID:29159194|PMID:29590070|PMID:29691679|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31796088|PMID:32096284|PMID:32343762|PMID:32737135|PMID:32860008|PMID:33880452|PMID:39825153|PMID:9536098
8806691	Kif1a	kinesin family member 1A	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:17576681|PMID:21376300|PMID:25265257|PMID:25585697|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:28492532|PMID:28554332|PMID:28832565|PMID:29159194|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31796088|PMID:31805580|PMID:32096284|PMID:32343762|PMID:32737135|PMID:32935419|PMID:33880452|PMID:39076207|PMID:9536098
8806691	Kif1a	kinesin family member 1A	gene	DOID:2725	capillary hemangioma		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Capillary hemangioma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:2841	asthma		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
8806691	Kif1a	kinesin family member 1A	gene	DOID:3070	high grade glioma		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8806691	Kif1a	kinesin family member 1A	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1312759	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:21820098|PMID:25741868|PMID:28492532
8806691	Kif1a	kinesin family member 1A	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:420	hypertrichosis		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532
8806691	Kif1a	kinesin family member 1A	gene	DOID:480	movement disease		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
8806691	Kif1a	kinesin family member 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:1312759	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8806691	Kif1a	kinesin family member 1A	gene	DOID:540	strabismus		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26467025|PMID:26486474|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:543	dystonia		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder | ClinVar Annotator: match by term: Limb dystonia	PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26467025|PMID:26486474|PMID:28492532|PMID:31488895|PMID:31796088|PMID:33880452|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:5723	optic atrophy		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26486474|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452
8806691	Kif1a	kinesin family member 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8806691	Kif1a	kinesin family member 1A	gene	DOID:607	paraplegia		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:16199547|PMID:17576681|PMID:21820098|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31796088|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452|PMID:34782662|PMID:34983064|PMID:9536098
8806691	Kif1a	kinesin family member 1A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:26467025|PMID:28492532
8806691	Kif1a	kinesin family member 1A	gene	DOID:630	genetic disease		ISO	RGD:1312759	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:18414213|PMID:21376300|PMID:22258533|PMID:25209998|PMID:25265257|PMID:25356899|PMID:25533962|PMID:25741868|PMID:25975756|PMID:26125038|PMID:26350204|PMID:26354034|PMID:26467025|PMID:26486474|PMID:27034427|PMID:27146152|PMID:27681307|PMID:27956632|PMID:28106320|PMID:28333917|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28927378|PMID:28970574|PMID:29589274|PMID:29590070|PMID:29691679|PMID:29908077|PMID:29915382|PMID:29970176|PMID:30564185|PMID:31455732|PMID:31488895|PMID:31628766|PMID:31700678|PMID:31734026|PMID:31805580|PMID:32096284|PMID:32343762|PMID:32737135|PMID:32860008|PMID:33880452|PMID:39076207|PMID:39825153|PMID:9536098
8806691	Kif1a	kinesin family member 1A	gene	DOID:630	genetic disease		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:21376300|PMID:22258533|PMID:25209998|PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:26486474|PMID:27124789|PMID:28106320|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28834584|PMID:28970574|PMID:29589274|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:31813911|PMID:32343762|PMID:32737135|PMID:32746806|PMID:32935419|PMID:33717719|PMID:33880452|PMID:34015165|PMID:34356170|PMID:34469436|PMID:34487232|PMID:36284339|PMID:38539105|PMID:38785164|PMID:39076207|PMID:9536098
8806691	Kif1a	kinesin family member 1A	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:674	cleft palate		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the mitochondrion	PMID:25741868|PMID:28492532
8806691	Kif1a	kinesin family member 1A	gene	DOID:7319	axonal neuropathy		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral axonal neuropathy	PMID:21376300|PMID:25253658|PMID:25265257|PMID:25326635|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26486474|PMID:26994895|PMID:28492532|PMID:30144970|PMID:30385166|PMID:31455732|PMID:31488895|PMID:32096284|PMID:32737135|PMID:34782662
8806691	Kif1a	kinesin family member 1A	gene	DOID:7319	axonal neuropathy		ISO	RGD:1312759	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Motor axonal neuropathy | ClinVar Annotator: match by term: Peripheral axonal neuropathy	PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26486474|PMID:26994895|PMID:28492532|PMID:30144970|PMID:30385166|PMID:31455732|PMID:31488895|PMID:32096284|PMID:32737135|PMID:34782662
8806691	Kif1a	kinesin family member 1A	gene	DOID:767	muscular atrophy		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:21820098|PMID:25741868|PMID:28492532
8806691	Kif1a	kinesin family member 1A	gene	DOID:83	cataract		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26467025|PMID:26486474|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532
8806691	Kif1a	kinesin family member 1A	gene	DOID:870	neuropathy		ISO	RGD:1312759	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:21820098|PMID:25741868|PMID:26467025|PMID:28492532
8806691	Kif1a	kinesin family member 1A	gene	DOID:8927	learning disability		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:28492532|PMID:31628766
8806691	Kif1a	kinesin family member 1A	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:9000343	Vision Disorders		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:26354034|PMID:26467025|PMID:27034427|PMID:28492532|PMID:28708303|PMID:29915382|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:9001581	Constipation		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532
8806691	Kif1a	kinesin family member 1A	gene	DOID:9001897	MOTOR NEURON ATROPHY		ISO	RGD:1312759	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Motor neuron atrophy	PMID:21820098|PMID:25741868|PMID:28492532
8806691	Kif1a	kinesin family member 1A	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:26354034
8806691	Kif1a	kinesin family member 1A	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868
8806691	Kif1a	kinesin family member 1A	gene	DOID:9002580	Metatarsus Varus		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metatarsus adductus	PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165
8806691	Kif1a	kinesin family member 1A	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:21376300|PMID:25253658|PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26486474|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452|PMID:34015165
8806691	Kif1a	kinesin family member 1A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26486474|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31796088|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452|PMID:34015165
8806691	Kif1a	kinesin family member 1A	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:9003133	Hypertelorism		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452
8806691	Kif1a	kinesin family member 1A	gene	DOID:9003816	Macrocephaly		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8806691	Kif1a	kinesin family member 1A	gene	DOID:9004795	Congenital Hand Deformities		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand oligodactyly	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:9004866	Ataxia		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Incoordination	PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:26486474|PMID:28492532|PMID:28554332|PMID:30564185|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31700678|PMID:31796088|PMID:31805580|PMID:32737135|PMID:32746806|PMID:32935419|PMID:33880452|PMID:34354735|PMID:35917346|PMID:36247768|PMID:36305856|PMID:37251230
8806691	Kif1a	kinesin family member 1A	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1312759	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868|PMID:28492532|PMID:31488895
8806691	Kif1a	kinesin family member 1A	gene	DOID:9005329	Preaxial Polydactyly		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preaxial polydactyly	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1312759	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:21376300|PMID:21820098|PMID:25253658|PMID:25265257|PMID:25741868|PMID:25975756|PMID:26125038|PMID:26467025|PMID:26486474|PMID:28492532
8806691	Kif1a	kinesin family member 1A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25209998|PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:26486474|PMID:27034427|PMID:28492532|PMID:28708303|PMID:29589274|PMID:29915382|PMID:31488895|PMID:31796088|PMID:31805580|PMID:33880452|PMID:34015165|PMID:34354735|PMID:39825153
8806691	Kif1a	kinesin family member 1A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312759	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25209998|PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:26486474|PMID:27034427|PMID:28492532|PMID:28708303|PMID:29589274|PMID:29915382|PMID:31488895|PMID:31796088|PMID:31805580|PMID:33880452|PMID:34015165|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25209998|PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:26486474|PMID:27034427|PMID:28492532|PMID:28554332|PMID:28708303|PMID:29589274|PMID:29915382|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31796088|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452|PMID:34015165|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:9005640	Complete Atrioventricular Septal Defect		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complete atrioventricular canal	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1304996	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus	PMID:23776493|REF_RGD_ID:11059542
8806691	Kif1a	kinesin family member 1A	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1312759	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532|PMID:28834584|PMID:31455732|PMID:31488895|PMID:31813911|PMID:32737135|PMID:32746806|PMID:32935419|PMID:33880452|PMID:34356170|PMID:34469436|PMID:34487232|PMID:38785164
8806691	Kif1a	kinesin family member 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8806691	Kif1a	kinesin family member 1A	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26354034|PMID:26467025|PMID:26486474|PMID:26994895|PMID:28492532|PMID:30144970|PMID:30385166|PMID:30564185|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31796088|PMID:32096284|PMID:32737135|PMID:32746806|PMID:33880452|PMID:34354735|PMID:34782662|PMID:35917346|PMID:36247768|PMID:36305856|PMID:37251230
8806691	Kif1a	kinesin family member 1A	gene	DOID:9007661	Dwarfism		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:26486474|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31796088|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452|PMID:34015165|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21376300|PMID:25209998|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:26486474|PMID:27034427|PMID:28492532|PMID:28554332|PMID:28708303|PMID:29589274|PMID:29915382|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:9008582	Developmental Disease		ISO	RGD:1312759	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8806691	Kif1a	kinesin family member 1A	gene	DOID:9008675	Dyskinesias		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:25741868|PMID:28492532
8806691	Kif1a	kinesin family member 1A	gene	DOID:9008739	Athetosis		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Athetosis	PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165
8806691	Kif1a	kinesin family member 1A	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165
8806691	Kif1a	kinesin family member 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8806691	Kif1a	kinesin family member 1A	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:1312759	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: spinocerebellar disease	PMID:25741868|PMID:26467025|PMID:28492532
8806691	Kif1a	kinesin family member 1A	gene	DOID:9351	diabetes mellitus		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
8806691	Kif1a	kinesin family member 1A	gene	DOID:9834	hyperopia		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452
8806768	Myot	myotilin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1321551	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:15111675
8806768	Myot	myotilin	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1321551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
8806768	Myot	myotilin	gene	DOID:0080094	myofibrillar myopathy 3		ISO	RGD:1321551	D	RGD:7240710	20180130	OMIM			
8806768	Myot	myotilin	gene	DOID:0080094	myofibrillar myopathy 3		ISO	RGD:1321551	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Myofibrillar myopathy 3	PMID:28492532
8806768	Myot	myotilin	gene	DOID:10283	prostate cancer		ISO	RGD:1321551	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8806768	Myot	myotilin	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1321551	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant | ClinVar Annotator: match by term: Muscular Dystrophies, Limb-Girdle	PMID:25741868|PMID:26467025|PMID:28492532
8806768	Myot	myotilin	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1321551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15111675
8806768	Myot	myotilin	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1321551	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:15111675
8806768	Myot	myotilin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321551	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
8806768	Myot	myotilin	gene	DOID:9884	muscular dystrophy		ISO	RGD:1321551	D	RGD:9068941	20200609	RGD		Limb-Girdle Muscular Dystrophy LGMD1A, OMIM:159000	PMID:10958653|REF_RGD_ID:1599673
8806784	Klhl13	kelch like family member 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8806784	Klhl13	kelch like family member 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8806784	Klhl13	kelch like family member 13	gene	DOID:1115	sarcoma		ISO	RGD:1342476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8806784	Klhl13	kelch like family member 13	gene	DOID:1324	lung cancer		ISO	RGD:1342476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8806784	Klhl13	kelch like family member 13	gene	DOID:1909	melanoma		ISO	RGD:1342476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8806784	Klhl13	kelch like family member 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8806784	Klhl13	kelch like family member 13	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8806784	Klhl13	kelch like family member 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8806784	Klhl13	kelch like family member 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8806784	Klhl13	kelch like family member 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8806784	Klhl13	kelch like family member 13	gene	DOID:9256	colorectal cancer		ISO	RGD:1342476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:0060058	lymphoma		ISO	RGD:732990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:0110349	osteogenesis imperfecta type 9		ISO	RGD:732990	D	RGD:7240710	20180130	OMIM			
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:0110349	osteogenesis imperfecta type 9		ISO	RGD:732990	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IX | ClinVar Annotator: match by term: Osteogenesis imperfecta type 9 | ClinVar Annotator: match by term: PPIB-related condition	PMID:25741868|PMID:28492532
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:1115	sarcoma		ISO	RGD:732990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:732990	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:21239989|PMID:21282188|PMID:25741868|PMID:27509835|PMID:28492532
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:732990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:25741868|PMID:28492532
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:1324	lung cancer		ISO	RGD:732990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:1909	melanoma		ISO	RGD:732990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:3275	thymoma		ISO	RGD:732990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:5041	esophageal cancer		ISO	RGD:732990	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:732990	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:6039	uveal melanoma		ISO	RGD:732990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:630	genetic disease		ISO	RGD:732990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:732990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8806811	Ppib	peptidylprolyl isomerase B	gene	DOID:9256	colorectal cancer		ISO	RGD:732990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8806820	Rps6ka1	ribosomal protein S6 kinase A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8806820	Rps6ka1	ribosomal protein S6 kinase A1	gene	DOID:0050668	alcohol-related birth defects		ISO	RGD:732451	D	RGD:9068941	20250306	RGD		DNA:SNP:CDS:rs4659444	PMID:29109170|REF_RGD_ID:597830079
8806820	Rps6ka1	ribosomal protein S6 kinase A1	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:732451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29109170
8806820	Rps6ka1	ribosomal protein S6 kinase A1	gene	DOID:0060058	lymphoma		ISO	RGD:732451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8806820	Rps6ka1	ribosomal protein S6 kinase A1	gene	DOID:10534	stomach cancer		ISO	RGD:732451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8806820	Rps6ka1	ribosomal protein S6 kinase A1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8806820	Rps6ka1	ribosomal protein S6 kinase A1	gene	DOID:1324	lung cancer		ISO	RGD:732451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8806820	Rps6ka1	ribosomal protein S6 kinase A1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8806820	Rps6ka1	ribosomal protein S6 kinase A1	gene	DOID:4362	cervical cancer		ISO	RGD:732451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8806820	Rps6ka1	ribosomal protein S6 kinase A1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8806820	Rps6ka1	ribosomal protein S6 kinase A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8806820	Rps6ka1	ribosomal protein S6 kinase A1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8806820	Rps6ka1	ribosomal protein S6 kinase A1	gene	DOID:8541	Sezary's disease		ISO	RGD:732451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26551670
8806820	Rps6ka1	ribosomal protein S6 kinase A1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:732451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8806820	Rps6ka1	ribosomal protein S6 kinase A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1346534	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22050706
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:0111145	ureteropelvic junction obstruction		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ureteropelvic junction obstruction	PMID:22050706|PMID:25741868
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:0111837	congenital nongoitrous hypothyroidism 8		ISO	RGD:1346534	D	RGD:7240710	20191009	OMIM			
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:0111837	congenital nongoitrous hypothyroidism 8		ISO	RGD:1346534	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 8 | ClinVar Annotator: match by term: TBL1X-related condition	PMID:25741868|PMID:27603907|PMID:28492532|PMID:30591955
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:10534	stomach cancer		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:1115	sarcoma		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:12849	autistic disorder		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:22050706|PMID:25741868
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:3275	thymoma		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:4362	cervical cancer		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:5041	esophageal cancer		ISO	RGD:1346534	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:6039	uveal melanoma		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:630	genetic disease		ISO	RGD:1346534	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:9003816	Macrocephaly		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:22050706|PMID:25741868
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22050706|PMID:25741868
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8806870	Tbl1x	transducin beta like 1 X-linked	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8806893	Cables1	Cdk5 and Abl enzyme substrate 1	gene	DOID:1115	sarcoma		ISO	RGD:1313589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8806893	Cables1	Cdk5 and Abl enzyme substrate 1	gene	DOID:1909	melanoma		ISO	RGD:1313589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8806893	Cables1	Cdk5 and Abl enzyme substrate 1	gene	DOID:3275	thymoma		ISO	RGD:1313589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8806893	Cables1	Cdk5 and Abl enzyme substrate 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313589	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8806893	Cables1	Cdk5 and Abl enzyme substrate 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8806893	Cables1	Cdk5 and Abl enzyme substrate 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8806893	Cables1	Cdk5 and Abl enzyme substrate 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8806893	Cables1	Cdk5 and Abl enzyme substrate 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1313589	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17982127
8806893	Cables1	Cdk5 and Abl enzyme substrate 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8806922	Ube2w	ubiquitin conjugating enzyme E2 W	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8806922	Ube2w	ubiquitin conjugating enzyme E2 W	gene	DOID:1115	sarcoma		ISO	RGD:1605362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8806922	Ube2w	ubiquitin conjugating enzyme E2 W	gene	DOID:3070	high grade glioma		ISO	RGD:1605362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8806922	Ube2w	ubiquitin conjugating enzyme E2 W	gene	DOID:4362	cervical cancer		ISO	RGD:1605362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8806922	Ube2w	ubiquitin conjugating enzyme E2 W	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8806922	Ube2w	ubiquitin conjugating enzyme E2 W	gene	DOID:5041	esophageal cancer		ISO	RGD:1605362	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8806922	Ube2w	ubiquitin conjugating enzyme E2 W	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8806922	Ube2w	ubiquitin conjugating enzyme E2 W	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8806922	Ube2w	ubiquitin conjugating enzyme E2 W	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8806922	Ube2w	ubiquitin conjugating enzyme E2 W	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8806922	Ube2w	ubiquitin conjugating enzyme E2 W	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8806943	Fitm2	fat storage inducing transmembrane protein 2	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1317034	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
8806943	Fitm2	fat storage inducing transmembrane protein 2	gene	DOID:0081273	Siddiqi syndrome		ISO	RGD:1317034	D	RGD:7240710	20191127	OMIM			
8806943	Fitm2	fat storage inducing transmembrane protein 2	gene	DOID:0081273	Siddiqi syndrome		ISO	RGD:1317034	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, DYSTONIA, DEVELOPMENTAL DELAY, AND POOR GROWTH | ClinVar Annotator: match by term: FITM2-related condition | ClinVar Annotator: match by term: SIDDIQI SYNDROME | ClinVar Annotator: match by term: Siddiqi syndrome	PMID:25741868
8806943	Fitm2	fat storage inducing transmembrane protein 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1317034	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
8806943	Fitm2	fat storage inducing transmembrane protein 2	gene	DOID:12835	quadriplegia		ISO	RGD:1317034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraplegia	
8806943	Fitm2	fat storage inducing transmembrane protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8806943	Fitm2	fat storage inducing transmembrane protein 2	gene	DOID:9000343	Vision Disorders		ISO	RGD:1317034	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Visual impairment	
8806943	Fitm2	fat storage inducing transmembrane protein 2	gene	DOID:9000831	Hypokinesia		ISO	RGD:1317034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradykinesia	
8806943	Fitm2	fat storage inducing transmembrane protein 2	gene	DOID:9001722	Dysarthria		ISO	RGD:1317034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic dysarthria	
8806943	Fitm2	fat storage inducing transmembrane protein 2	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1317034	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gait ataxia	
8806943	Fitm2	fat storage inducing transmembrane protein 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1317034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
8806943	Fitm2	fat storage inducing transmembrane protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8806943	Fitm2	fat storage inducing transmembrane protein 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1317034	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	
8806943	Fitm2	fat storage inducing transmembrane protein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317034	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8806967	Impa1	inositol monophosphatase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8806967	Impa1	inositol monophosphatase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8806967	Impa1	inositol monophosphatase 1	gene	DOID:0081221	autosomal recessive intellectual developmental disorder 59		ISO	RGD:737559	D	RGD:7240710	20190315	OMIM			
8806967	Impa1	inositol monophosphatase 1	gene	DOID:0081221	autosomal recessive intellectual developmental disorder 59		ISO	RGD:737559	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMPA1-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 59	PMID:25741868|PMID:28492532
8806967	Impa1	inositol monophosphatase 1	gene	DOID:1059	intellectual disability		ISO	RGD:737559	D	RGD:9068941	20210416	RGD		DNA:frameshift mutation:CDS:c.489_493dupGGGCT (human)	PMID:26416544|REF_RGD_ID:126781710
8806967	Impa1	inositol monophosphatase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8806967	Impa1	inositol monophosphatase 1	gene	DOID:11832	visual epilepsy		ISO	RGD:737559	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:17460611
8806967	Impa1	inositol monophosphatase 1	gene	DOID:3275	thymoma		ISO	RGD:737559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8806967	Impa1	inositol monophosphatase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8806967	Impa1	inositol monophosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8806967	Impa1	inositol monophosphatase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:737559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8806967	Impa1	inositol monophosphatase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8806967	Impa1	inositol monophosphatase 1	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:737560	D	RGD:9068941	20210416	RGD			PMID:30604625|REF_RGD_ID:126781711
8806967	Impa1	inositol monophosphatase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8806967	Impa1	inositol monophosphatase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8806967	Impa1	inositol monophosphatase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:737559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1344717	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability | ClinVar Annotator: match by term: syndromic intellectual disability	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1344717	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0060157	diffuse alopecia areata		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patchy alopecia	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0060249	scoliosis		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:26647312|PMID:28100473|PMID:29453417
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0070309	absence epilepsy		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868|PMID:29453417
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0080893	Bainbridge-Ropers syndrome		ISO	RGD:1344717	D	RGD:7240710	20180130	OMIM			
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0080893	Bainbridge-Ropers syndrome		ISO	RGD:1344717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: ASXL3-related condition | ClinVar Annotator: match by term: ASXL3-related disorder | ClinVar Annotator: match by term: BAINBRIDGE-ROPERS SYNDROME | ClinVar Annotator: match by term: Bainbridge-Ropers syndrome	PMID:23383720|PMID:25590979|PMID:25741868|PMID:26539891|PMID:26640146|PMID:26647312|PMID:27075689|PMID:28100473|PMID:28492532|PMID:29628764|PMID:30564305|PMID:31785789|PMID:32581362|PMID:33004838|PMID:34436830|PMID:36368308
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:1344717	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192917
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1344717	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Long eyelashes	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:1059	intellectual disability		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual deficiency | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability (moderate) | ClinVar Annotator: match by term: Intellectual disability syndrome | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868|PMID:29628764
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:1059	intellectual disability		ISO	RGD:1344717	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual deficiency | ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability (moderate) | ClinVar Annotator: match by term: Intellectual disability syndrome | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:26647312|PMID:28100473|PMID:29628764|PMID:31180560
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:10604	lactose intolerance		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactose intolerance	PMID:25741868|PMID:32581362
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:10608	celiac disease		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Celiac disease	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:1074	kidney failure		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:10754	otitis media		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:10907	microcephaly		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25131622|PMID:25741868|PMID:29453417
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:11476	osteoporosis		ISO	RGD:1344717	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:25741868|PMID:27901041|PMID:28492532|PMID:29305346|PMID:29367179|PMID:33751541|PMID:38420660
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:11714	gestational diabetes		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:11782	astigmatism		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:29453417
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:11830	myopia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:29453417|PMID:32581362
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:1205	allergic disease		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:25741868|PMID:32581362
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:12215	oligohydramnios		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:1283	enterocele		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:12849	autistic disorder		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: autism	PMID:25741868|PMID:28492532|PMID:29453417|PMID:32581362
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:13250	diarrhea		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:13620	patent foramen ovale		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:1826	epilepsy		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:29453417|PMID:32581362
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:1969	cerebral palsy		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:29453417
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868|PMID:32581362
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:2340	craniosynostosis		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Trigonocephaly	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:255	hemangioma		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:327	syringomyelia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syringomyelia	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:3326	purpura		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Petechiae	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:3627	aortic aneurysm		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:4481	allergic rhinitis		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:535	sleep disorder		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:32581362|PMID:37541188
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:540	strabismus		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:552	pneumonia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:25741868|PMID:29453417
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:57	aortic valve insufficiency		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic regurgitation	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:630	genetic disease		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:32581362|PMID:37541188
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:674	cleft palate		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:8488	polyhydramnios		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:29453417|PMID:32581362
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:8927	learning disability		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9000052	Breech Presentation		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breech presentation	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9001031	Retrognathia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:29453417|PMID:32581362
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9001510	Funnel Chest		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9001581	Constipation		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:23383720|PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:32581362
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9003133	Hypertelorism		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9003507	Premature Birth		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9004108	Fused Kidney		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9004507	Hirsutism		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9004866	Ataxia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Incoordination	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9005077	Joint Instability		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344717	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:26647312|PMID:28100473|PMID:29453417|PMID:32581362|PMID:34436830
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9005616	Micrognathism		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9005721	Preeclamptic Toxemia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Toxemia of pregnancy	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1344717	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip dislocation	PMID:25741868|PMID:26647312|PMID:28100473
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9007573	Flatfoot		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:32581362
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9007738	Broca Aphasia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive aphasia	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344717	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25131622|PMID:25741868|PMID:32581362|PMID:34436830|PMID:37541188
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9008189	Pyelectasis		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain insensitivity	
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9008805	Overbite		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overbite	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9008879	Self Mutilation		ISO	RGD:1344717	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Self-mutilation	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9307	rectal prolapse		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rectal prolapse	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:25741868
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9834	hyperopia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:32581362
8806987	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9840	esotropia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
8807017	Slc30a4	solute carrier family 30 member 4	gene	DOID:0060496	respiratory allergy		ISO	RGD:1343503	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085522
8807017	Slc30a4	solute carrier family 30 member 4	gene	DOID:0080600	COVID-19		ISO	RGD:1343503	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8807017	Slc30a4	solute carrier family 30 member 4	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1343503	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16580781
8807017	Slc30a4	solute carrier family 30 member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807017	Slc30a4	solute carrier family 30 member 4	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:1343503	D	RGD:9068941	20200609	RGD		protein:decreased expression:prostate gland	PMID:12955079|REF_RGD_ID:2299948
8807017	Slc30a4	solute carrier family 30 member 4	gene	DOID:9002304	Prostatic Neoplasms	disease_progression	ISO	RGD:1343503	D	RGD:9068941	20200609	RGD		protein:decreased expression:prostate gland	PMID:12955079|REF_RGD_ID:2299948
8807017	Slc30a4	solute carrier family 30 member 4	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:619750	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:18289514|REF_RGD_ID:2299950
8807032	Natd1	N-acetyltransferase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1606417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8807032	Natd1	N-acetyltransferase domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1606417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8807045	Tead3	TEA domain transcription factor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1323117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8807045	Tead3	TEA domain transcription factor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8807045	Tead3	TEA domain transcription factor 3	gene	DOID:1115	sarcoma		ISO	RGD:1323117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8807045	Tead3	TEA domain transcription factor 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8807045	Tead3	TEA domain transcription factor 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8807045	Tead3	TEA domain transcription factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807045	Tead3	TEA domain transcription factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807069	Septin14	septin 14	gene	DOID:1324	lung cancer		ISO	RGD:1602813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8807069	Septin14	septin 14	gene	DOID:14330	Parkinson's disease	susceptibility	ISO	RGD:1602813	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:rs10241628, rs11981883, rs77231105 (human)	PMID:27115672|REF_RGD_ID:13504669
8807069	Septin14	septin 14	gene	DOID:1909	melanoma		ISO	RGD:1602813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8807069	Septin14	septin 14	gene	DOID:3068	glioblastoma		ISO	RGD:1602813	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23917401
8807069	Septin14	septin 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8807069	Septin14	septin 14	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8807069	Septin14	septin 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807069	Septin14	septin 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8807082	Ddx50	DExD-box helicase 50	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8807082	Ddx50	DExD-box helicase 50	gene	DOID:10283	prostate cancer		ISO	RGD:1322118	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
8807082	Ddx50	DExD-box helicase 50	gene	DOID:10534	stomach cancer		ISO	RGD:1322118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8807082	Ddx50	DExD-box helicase 50	gene	DOID:1115	sarcoma		ISO	RGD:1322118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8807082	Ddx50	DExD-box helicase 50	gene	DOID:1909	melanoma		ISO	RGD:1322118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8807082	Ddx50	DExD-box helicase 50	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8807082	Ddx50	DExD-box helicase 50	gene	DOID:3275	thymoma		ISO	RGD:1322118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8807082	Ddx50	DExD-box helicase 50	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8807082	Ddx50	DExD-box helicase 50	gene	DOID:4362	cervical cancer		ISO	RGD:1322118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8807082	Ddx50	DExD-box helicase 50	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807082	Ddx50	DExD-box helicase 50	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8807082	Ddx50	DExD-box helicase 50	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8807101	Decr2	2,4-dienoyl-CoA reductase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8807101	Decr2	2,4-dienoyl-CoA reductase 2	gene	DOID:10534	stomach cancer		ISO	RGD:735964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8807101	Decr2	2,4-dienoyl-CoA reductase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8807101	Decr2	2,4-dienoyl-CoA reductase 2	gene	DOID:1324	lung cancer		ISO	RGD:735964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8807101	Decr2	2,4-dienoyl-CoA reductase 2	gene	DOID:1909	melanoma		ISO	RGD:735964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8807101	Decr2	2,4-dienoyl-CoA reductase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8807101	Decr2	2,4-dienoyl-CoA reductase 2	gene	DOID:3070	high grade glioma		ISO	RGD:735964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8807101	Decr2	2,4-dienoyl-CoA reductase 2	gene	DOID:4362	cervical cancer		ISO	RGD:735964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8807101	Decr2	2,4-dienoyl-CoA reductase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807101	Decr2	2,4-dienoyl-CoA reductase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:735964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8807101	Decr2	2,4-dienoyl-CoA reductase 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:735964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8807101	Decr2	2,4-dienoyl-CoA reductase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807101	Decr2	2,4-dienoyl-CoA reductase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8807117	Znf641	zinc finger protein 641	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8807117	Znf641	zinc finger protein 641	gene	DOID:4362	cervical cancer		ISO	RGD:1606174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8807117	Znf641	zinc finger protein 641	gene	DOID:5041	esophageal cancer		ISO	RGD:1606174	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8807117	Znf641	zinc finger protein 641	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807117	Znf641	zinc finger protein 641	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8807142	Necap1	NECAP endocytosis associated 1	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:1603669	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	
8807142	Necap1	NECAP endocytosis associated 1	gene	DOID:0080443	developmental and epileptic encephalopathy 21		ISO	RGD:1603669	D	RGD:7240710	20180130	OMIM			
8807142	Necap1	NECAP endocytosis associated 1	gene	DOID:0080443	developmental and epileptic encephalopathy 21		ISO	RGD:1603669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 | ClinVar Annotator: match by term: NECAP1-related disorder	PMID:17576681|PMID:24399846|PMID:25741868|PMID:28492532|PMID:30626896|PMID:9536098
8807142	Necap1	NECAP endocytosis associated 1	gene	DOID:1909	melanoma		ISO	RGD:1603669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8807142	Necap1	NECAP endocytosis associated 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8807142	Necap1	NECAP endocytosis associated 1	gene	DOID:630	genetic disease		ISO	RGD:1603669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8807142	Necap1	NECAP endocytosis associated 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8807164	Gsdmd	gasdermin D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8807164	Gsdmd	gasdermin D	gene	DOID:10534	stomach cancer		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8807164	Gsdmd	gasdermin D	gene	DOID:1324	lung cancer		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8807164	Gsdmd	gasdermin D	gene	DOID:1909	melanoma		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8807164	Gsdmd	gasdermin D	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8807164	Gsdmd	gasdermin D	gene	DOID:2394	ovarian cancer		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8807164	Gsdmd	gasdermin D	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1316349	D	RGD:9068941	20250911	RGD		mRNA, protein:increased expression, decreased methylation:lung (human)	PMID:36505798|REF_RGD_ID:626467896
8807164	Gsdmd	gasdermin D	gene	DOID:4362	cervical cancer		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8807164	Gsdmd	gasdermin D	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8807164	Gsdmd	gasdermin D	gene	DOID:5041	esophageal cancer		ISO	RGD:1316349	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8807164	Gsdmd	gasdermin D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807164	Gsdmd	gasdermin D	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8807164	Gsdmd	gasdermin D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8807164	Gsdmd	gasdermin D	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8807164	Gsdmd	gasdermin D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807181	Rassf1	Ras association domain family member 1	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24146755
8807181	Rassf1	Ras association domain family member 1	gene	DOID:0050902	medulloblastoma		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21880625
8807181	Rassf1	Ras association domain family member 1	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1343966	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:17960617|REF_RGD_ID:2299865
8807181	Rassf1	Ras association domain family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15987713
8807181	Rassf1	Ras association domain family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343966	D	RGD:9068941	20200609	RGD		DNA:hypermethylation	PMID:18702824|REF_RGD_ID:2299860
8807181	Rassf1	Ras association domain family member 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19652091
8807181	Rassf1	Ras association domain family member 1	gene	DOID:1395	schistosomiasis		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23527093
8807181	Rassf1	Ras association domain family member 1	gene	DOID:1612	breast cancer		ISO	RGD:1343966	D	RGD:9068941	20200609	RGD		DNA, mRNA, protein:hypermethylation, decreased expression:promoter, breast	PMID:18425370|REF_RGD_ID:2299869
8807181	Rassf1	Ras association domain family member 1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1343966	D	RGD:9068941	20200609	RGD		DNA:hypermethylation	PMID:18483325|REF_RGD_ID:2299868
8807181	Rassf1	Ras association domain family member 1	gene	DOID:1909	melanoma		ISO	RGD:1343966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8807181	Rassf1	Ras association domain family member 1	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1343966	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:16545186|REF_RGD_ID:2299867
8807181	Rassf1	Ras association domain family member 1	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1343966	D	RGD:9068941	20200609	RGD		DNA, protein:hypermethylation, decreased expression:promoter, urinary bladder	PMID:18480993|REF_RGD_ID:2299862
8807181	Rassf1	Ras association domain family member 1	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1343966	D	RGD:9068941	20200609	RGD		DNA, protein:hypermethylation, decreased expression:promoter,	PMID:18469797|REF_RGD_ID:2299863
8807181	Rassf1	Ras association domain family member 1	gene	DOID:299	adenocarcinoma		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15639718
8807181	Rassf1	Ras association domain family member 1	gene	DOID:3275	thymoma		ISO	RGD:1343966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8807181	Rassf1	Ras association domain family member 1	gene	DOID:365	bladder disease		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23527093
8807181	Rassf1	Ras association domain family member 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18337602
8807181	Rassf1	Ras association domain family member 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1343966	D	RGD:9068941	20220708	RGD		DNA:hypermethylation	PMID:27777637|REF_RGD_ID:152998954
8807181	Rassf1	Ras association domain family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8807181	Rassf1	Ras association domain family member 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1343966	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:17645803|REF_RGD_ID:2299866
8807181	Rassf1	Ras association domain family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807181	Rassf1	Ras association domain family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8807181	Rassf1	Ras association domain family member 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20008439
8807181	Rassf1	Ras association domain family member 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12082623|PMID:15639718
8807181	Rassf1	Ras association domain family member 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18337602
8807181	Rassf1	Ras association domain family member 1	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26410583
8807181	Rassf1	Ras association domain family member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1343966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8807199	Spata6	spermatogenesis associated 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8807199	Spata6	spermatogenesis associated 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8807199	Spata6	spermatogenesis associated 6	gene	DOID:1324	lung cancer		ISO	RGD:732866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8807199	Spata6	spermatogenesis associated 6	gene	DOID:1909	melanoma		ISO	RGD:732866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8807199	Spata6	spermatogenesis associated 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807199	Spata6	spermatogenesis associated 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807199	Spata6	spermatogenesis associated 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8807218	Adamts4	ADAM metallopeptidase with thrombospondin type 1 motif 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8807218	Adamts4	ADAM metallopeptidase with thrombospondin type 1 motif 4	gene	DOID:1324	lung cancer		ISO	RGD:1346398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8807218	Adamts4	ADAM metallopeptidase with thrombospondin type 1 motif 4	gene	DOID:224	transient cerebral ischemia		ISO	RGD:621242	D	RGD:9068941	20200609	RGD			PMID:16630594|REF_RGD_ID:9681747
8807218	Adamts4	ADAM metallopeptidase with thrombospondin type 1 motif 4	gene	DOID:3275	thymoma		ISO	RGD:1346398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8807218	Adamts4	ADAM metallopeptidase with thrombospondin type 1 motif 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807218	Adamts4	ADAM metallopeptidase with thrombospondin type 1 motif 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1346398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8807218	Adamts4	ADAM metallopeptidase with thrombospondin type 1 motif 4	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1346398	D	RGD:9068941	20200609	RGD		mRNA:increased expression:synovium	PMID:11801682|REF_RGD_ID:10043106
8807218	Adamts4	ADAM metallopeptidase with thrombospondin type 1 motif 4	gene	DOID:8398	osteoarthritis	treatment	ISO	RGD:1550099	D	RGD:9068941	20200609	RGD		associated with Bone Diseases, Metabolic	PMID:22432033|REF_RGD_ID:10043110
8807218	Adamts4	ADAM metallopeptidase with thrombospondin type 1 motif 4	gene	DOID:90	degenerative disc disease		ISO	RGD:621242	D	RGD:9068941	20200609	RGD			PMID:22394620|REF_RGD_ID:10043115
8807218	Adamts4	ADAM metallopeptidase with thrombospondin type 1 motif 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807218	Adamts4	ADAM metallopeptidase with thrombospondin type 1 motif 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8807231	Epm2aip1	EPM2A interacting protein 1	gene	DOID:0070274	hereditary nonpolyposis colorectal cancer type 2		ISO	RGD:1322182	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: MLH1-related condition	PMID:28492532
8807231	Epm2aip1	EPM2A interacting protein 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:13487866|RGD:13489459|RGD:13819165|RGD:13819658|RGD:151885731|RGD:26890096|RGD:8592253	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms	PMID:28492532
8807236	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8807236	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:0060058	lymphoma		ISO	RGD:1604494	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8807236	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:10534	stomach cancer		ISO	RGD:1604494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8807236	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:1115	sarcoma		ISO	RGD:1604494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8807236	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:1324	lung cancer		ISO	RGD:1604494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8807236	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:3070	high grade glioma		ISO	RGD:1604494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8807236	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:3275	thymoma		ISO	RGD:1604494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8807236	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8807236	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807236	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8807236	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8807236	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807236	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604494	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8807278	Htatip2	HIV-1 Tat interactive protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8807278	Htatip2	HIV-1 Tat interactive protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8807278	Htatip2	HIV-1 Tat interactive protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8807278	Htatip2	HIV-1 Tat interactive protein 2	gene	DOID:3275	thymoma		ISO	RGD:1320556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8807278	Htatip2	HIV-1 Tat interactive protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8807278	Htatip2	HIV-1 Tat interactive protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8807278	Htatip2	HIV-1 Tat interactive protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807278	Htatip2	HIV-1 Tat interactive protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320556	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16799960
8807278	Htatip2	HIV-1 Tat interactive protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8807295	FUT2	fucosyltransferase 2 (H blood group)	gene	DOID:0081012	critical COVID-19		ISO	RGD:735387	D	RGD:9068941	20260321	RGD		DNA:SNP:intron:rs368565	PMID:35255492|REF_RGD_ID:640476616
8807295	Fut2	fucosyltransferase 2 (H blood group)	gene	DOID:0050161	lower respiratory tract disease	onset	ISO	RGD:735387	D	RGD:9068941	20260319	RGD		DNA:SNP: :rs601338	PMID:30376117|REF_RGD_ID:640478523
8807295	Fut2	fucosyltransferase 2 (H blood group)	gene	DOID:0050731	vitamin B12 deficiency		ISO	RGD:735387	D	RGD:7240710	20181003	OMIM			
8807295	Fut2	fucosyltransferase 2 (H blood group)	gene	DOID:0080600	COVID-19		ISO	RGD:735387	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:35255492
8807295	Fut2	fucosyltransferase 2 (H blood group)	gene	DOID:0080600	COVID-19	no_association	ISO	RGD:735387	D	RGD:9068941	20260314	RGD		DNA:SNP: :rs601338	PMID:36873632|REF_RGD_ID:640476617
8807295	Fut2	fucosyltransferase 2 (H blood group)	gene	DOID:13241	Behcet's disease	susceptibility	ISO	RGD:735387	D	RGD:9068941	20260321	RGD		DNA:missense mutations:cds:p.Trp143Ter (rs601338), p.Ile129Phe (rs1047781)	PMID:28166214|REF_RGD_ID:640478534
8807295	Fut2	fucosyltransferase 2 (H blood group)	gene	DOID:1520	colon carcinoma	treatment	ISO	RGD:2639	D	RGD:9068941	20260409	RGD			PMID:7525057|REF_RGD_ID:645122510
8807295	Fut2	fucosyltransferase 2 (H blood group)	gene	DOID:2841	asthma	severity	ISO	RGD:730884	D	RGD:9068941	20260321	RGD		DNA:SNPs: :rs281379, rs601338	PMID:33328473|REF_RGD_ID:640478533
8807295	Fut2	fucosyltransferase 2 (H blood group)	gene	DOID:3910	lung adenocarcinoma	treatment	ISO	RGD:735387	D	RGD:9068941	20260409	RGD			PMID:29228607|REF_RGD_ID:645122522
8807295	Fut2	fucosyltransferase 2 (H blood group)	gene	DOID:4928	intrahepatic cholangiocarcinoma		ISO	RGD:735387	D	RGD:9068941	20260409	RGD		mRNA:increased expression:bile duct	PMID:34558839|REF_RGD_ID:645122509
8807295	Fut2	fucosyltransferase 2 (H blood group)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807295	Fut2	fucosyltransferase 2 (H blood group)	gene	DOID:8778	Crohn's disease		ISO	RGD:735387	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21102463
8807295	Fut2	fucosyltransferase 2 (H blood group)	gene	DOID:8778	Crohn's disease		ISO	RGD:735387	D	RGD:9068941	20260409	RGD		DNA:SNPs, haplotype: :357C>T, A385T	PMID:28167958|REF_RGD_ID:645122497
8807295	Fut2	fucosyltransferase 2 (H blood group)	gene	DOID:9000403	Animal Mammary Neoplasms	disease_progression	ISO	RGD:2639	D	RGD:9068941	20260411	RGD		protein:increased expression	PMID:78984|REF_RGD_ID:645122580
8807295	Fut2	fucosyltransferase 2 (H blood group)	gene	DOID:9006923	Caliciviridae Infections		ISO	RGD:735387	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12692541
8807295	Fut2	fucosyltransferase 2 (H blood group)	gene	DOID:9007417	Pseudomonas Infections		ISO	RGD:735387	D	RGD:9068941	20260326	RGD		associated with non-CF bronchiectasis;DNA:polymorphisms:exon	PMID:27503233|REF_RGD_ID:640478532
8807295	Fut2	fucosyltransferase 2 (H blood group)	gene	DOID:9007847	Infantile Diarrhea		ISO	RGD:735387	D	RGD:9068941	20260319	RGD		DNA:SNP: :rs601338	PMID:30376117|REF_RGD_ID:640478523
8807295	Fut2	fucosyltransferase 2 (H blood group)	gene	DOID:9008385	Vomiting	onset	ISO	RGD:735387	D	RGD:9068941	20260319	RGD		DNA:SNP: :rs601338	PMID:30376117|REF_RGD_ID:640478523
8807301	Gsdma	gasdermin A	gene	DOID:10534	stomach cancer		ISO	RGD:1347779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8807301	Gsdma	gasdermin A	gene	DOID:1115	sarcoma		ISO	RGD:1347779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8807301	Gsdma	gasdermin A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8807301	Gsdma	gasdermin A	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1347779	D	RGD:9068941	20250911	RGD		mRNA, protein:increased expression, decreased methylation:lung (human)	PMID:36505798|REF_RGD_ID:626467896
8807301	Gsdma	gasdermin A	gene	DOID:4362	cervical cancer		ISO	RGD:1347779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8807301	Gsdma	gasdermin A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8807301	Gsdma	gasdermin A	gene	DOID:5041	esophageal cancer		ISO	RGD:1347779	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8807301	Gsdma	gasdermin A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807301	Gsdma	gasdermin A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:0001816	angiosarcoma		ISO	RGD:737202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17569031
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:737202	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:737202	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Ductal, Breast	PMID:15841074|REF_RGD_ID:2289965
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:737202	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:heart:	PMID:20631454|REF_RGD_ID:8551825
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:0060669	cerebral cavernous malformation		ISO	RGD:737202	D	RGD:9068941	20200609	RGD		protein:increased expression:endothelial cell:	PMID:11220380|REF_RGD_ID:8551824
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:737202	D	RGD:9068941	20200609	RGD		protein:increased expression:endothelial cell:	PMID:11220380|REF_RGD_ID:8551824
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:0080600	COVID-19		ISO	RGD:737202	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:737202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:737202	D	RGD:9068941	20200609	RGD			PMID:15472115|REF_RGD_ID:1582493
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:737202	D	RGD:9068941	20230330	RGD		mRNA,protein:increased expression:placenta	PMID:22262697|REF_RGD_ID:243048428
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:737202	D	RGD:9068941	20260115	CTD		CTD Direct Evidence: marker/mechanism	PMID:18679377|PMID:28628106|PMID:39732411
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:10873	Kuhnt-Junius degeneration		ISO	RGD:737202	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous:	PMID:22868384|REF_RGD_ID:10402118
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:10873	Kuhnt-Junius degeneration	susceptibility	ISO	RGD:737202	D	RGD:9068941	20200609	RGD		DNA:SNP::rs9943922, rs9508034, rs2281827, rs7324510, rs9513115 (human)	PMID:24812550|REF_RGD_ID:10402108
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:10873	Kuhnt-Junius degeneration	treatment	ISO	RGD:737202	D	RGD:9068941	20200609	RGD			PMID:20609706|REF_RGD_ID:10402116
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:737202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:11212	hydrophthalmos		ISO	RGD:734184	D	RGD:9068941	20200609	RGD			PMID:22426483|REF_RGD_ID:8549773
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:11382	corneal neovascularization	treatment	ISO	RGD:2621	D	RGD:9068941	20200609	RGD			PMID:19647313|REF_RGD_ID:10402147
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:11650	bronchopulmonary dysplasia		ISO	RGD:737202	D	RGD:9068941	20200609	RGD			PMID:22003089|REF_RGD_ID:10402122
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:734184	D	RGD:9068941	20200609	RGD			PMID:21731737|REF_RGD_ID:5684426
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:13025	retinopathy of prematurity	treatment	ISO	RGD:2621	D	RGD:9068941	20221117	RGD			PMID:30652694|REF_RGD_ID:155663485
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:13207	proliferative diabetic retinopathy		ISO	RGD:737202	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous:	PMID:22868384|REF_RGD_ID:10402118
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:13208	background diabetic retinopathy		ISO	RGD:737202	D	RGD:9068941	20200609	RGD		protein:decreased expression:aqueous humor:	PMID:23853629|REF_RGD_ID:10402120
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:737202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	severity	ISO	RGD:737202	D	RGD:9068941	20200626	RGD			PMID:28302172|REF_RGD_ID:32716376
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:13378	Kawasaki disease		ISO	RGD:737202	D	RGD:9068941	20200609	RGD			PMID:11839635|REF_RGD_ID:1582494
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:1520	colon carcinoma		ISO	RGD:737202	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon	PMID:25741868
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:1612	breast cancer		ISO	RGD:2621	D	RGD:9068941	20200609	RGD		protein:increased expression:mammary carcinoma cells	PMID:10604730|REF_RGD_ID:2289937
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:737202	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:1909	melanoma		ISO	RGD:737202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:1967	leiomyosarcoma	severity	ISO	RGD:737202	D	RGD:9068941	20200609	RGD		Uterine;  protein:increased expression:tumor:increased phospho-FLT1 level significantly associated with decreased survival rate (p=0.008)	PMID:15823121|REF_RGD_ID:2289964
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:2154	nephroblastoma	severity	ISO	RGD:737202	D	RGD:9068941	20200609	RGD		protein:increased expression:blastemal cells:expression associated with poor prognosis in chemotherapy treated patients	PMID:12560388|REF_RGD_ID:2289966
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:734184	D	RGD:9068941	20200609	RGD			PMID:17077813|REF_RGD_ID:10402150
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:737202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17954590
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:2696	Leydig cell tumor		ISO	RGD:737202	D	RGD:9068941	20200609	RGD			PMID:14517422|REF_RGD_ID:2301251
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:737202	D	RGD:9068941	20200609	RGD		mRNA:protein:skin:	PMID:7876550|REF_RGD_ID:7421586
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:737202	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:15681497|REF_RGD_ID:5684420
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:326	ischemia		ISO	RGD:734184	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle	PMID:17823371|REF_RGD_ID:2313719
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:3275	thymoma		ISO	RGD:737202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:737202	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:3963	thyroid gland carcinoma	treatment	ISO	RGD:737202	D	RGD:9068941	20220310	RGD			PMID:32626543|REF_RGD_ID:151665104
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:737202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:737202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:4448	macular degeneration		ISO	RGD:734184	D	RGD:9068941	20200609	RGD			PMID:21731737|REF_RGD_ID:5684426
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:4449	macular retinal edema		ISO	RGD:737202	D	RGD:9068941	20200609	RGD		associated with Branch Retinal Vein Occlusion; protein:increased expression:aqueous humor:	PMID:24894397|REF_RGD_ID:10402117
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:737202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16596207
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:737202	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor:expression significantly higher in tumors than corresponding normal tissue (p=0.01), significantly correlated with VEGF expression	PMID:11846206|REF_RGD_ID:2289960
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:737202	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney, blood, myeloid cell	PMID:18566400|REF_RGD_ID:2301250
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:4676	uremia		ISO	RGD:737202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19092814
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:737202	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:2621	D	RGD:9068941	20200609	RGD		mRNA:increased expressin:liver:	PMID:11981751|REF_RGD_ID:634296
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:737202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11981751
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:5844	myocardial infarction		ISO	RGD:2621	D	RGD:9068941	20200609	RGD			PMID:16714360|REF_RGD_ID:1601493
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:8398	osteoarthritis		ISO	RGD:737202	D	RGD:9068941	20200609	RGD		mRNA:increased expression:trabecular bone:	PMID:15781004|REF_RGD_ID:10402109
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:737202	D	RGD:9068941	20200609	RGD		protein:decreased expression:prostate gland	PMID:10893635|REF_RGD_ID:2301255
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:8725	vascular dementia	treatment	ISO	RGD:2621	D	RGD:9068941	20200609	RGD			PMID:22500404|REF_RGD_ID:10402076
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:8893	psoriasis	disease_progression	ISO	RGD:737202	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:20980160|REF_RGD_ID:8552359
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:737202	D	RGD:9068941	20200609	RGD			PMID:17143550|REF_RGD_ID:2313721
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:8947	diabetic retinopathy	treatment	ISO	RGD:2621	D	RGD:9068941	20200609	RGD			PMID:18174522|REF_RGD_ID:10402119
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2621	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord, astrocyte, macrophage	PMID:17409380|REF_RGD_ID:5684414
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9000528	Coronary Disease		ISO	RGD:737202	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:ventricle myocardium	PMID:16139132|REF_RGD_ID:2313728
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9000918	Disease Progression		ISO	RGD:737202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23146280
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:737202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21975929
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9001044	Choroidal Neovascularization	treatment	ISO	RGD:2621	D	RGD:9068941	20200609	RGD			PMID:23804076|REF_RGD_ID:10402115
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9001044	Choroidal Neovascularization	treatment	ISO	RGD:734184	D	RGD:9068941	20200609	RGD			PMID:23977149|REF_RGD_ID:10402113
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9001044	Choroidal Neovascularization	treatment	ISO	RGD:737202	D	RGD:9068941	20200609	RGD			PMID:10849558|REF_RGD_ID:10402112
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:737202	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine	PMID:15610240|REF_RGD_ID:2313731
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9002265	Kidney Neoplasms	severity	ISO	RGD:737202	D	RGD:9068941	20200609	RGD		protein:increased expression, alternative form:serum:increased expression of soluble domain in serum associated with poor survival (p=0.01)	PMID:11448916|REF_RGD_ID:2289948
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737202	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter:methylated in 24/63 (38.1%) of cancer samples but 0/13 (0%) of benign prostate samples	PMID:12824880|REF_RGD_ID:2289963
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737202	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate:expression in 15/15 (100%) of tumors examined, levels increased in neoplastic tissue relative to adjacent benign tissue	PMID:10475375|REF_RGD_ID:2289936
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:734184	D	RGD:9068941	20200609	RGD			PMID:19180491|REF_RGD_ID:6483591
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9002514	Neointima		ISO	RGD:2621	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:smooth muscle cell:	PMID:9400373|REF_RGD_ID:10402128
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9002514	Neointima	treatment	ISO	RGD:2621	D	RGD:9068941	20200609	RGD			PMID:22814749|REF_RGD_ID:10402146
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:2621	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain:	PMID:17888890|REF_RGD_ID:10402152
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:737202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17888890
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:734184	D	RGD:9068941	20200609	RGD			PMID:11929819|REF_RGD_ID:2301253
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:737202	D	RGD:9068941	20200609	RGD			PMID:11448924|REF_RGD_ID:2301254
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:737202	D	RGD:9068941	20200609	RGD		protein:increased expression:ovarian epithelial carcinoma	PMID:15350351|REF_RGD_ID:2289945
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:737202	D	RGD:9068941	20200609	RGD			PMID:18721816|REF_RGD_ID:10402153
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9002801	Recurrence		ISO	RGD:737202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23146280|PMID:26124351
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:737202	D	RGD:9068941	20200609	RGD		mRNA:increased expression:uterine cervix	PMID:17306351|REF_RGD_ID:2289084
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9004268	Uterine Neoplasms		ISO	RGD:737202	D	RGD:9068941	20200609	RGD		Uterine sarcomas;  protein:altered expression:tumor:increased expression of total FLT1 but decreased expression of phospho-FLT1	PMID:15823121|REF_RGD_ID:2289964
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9004332	Osteoarthritis, Experimental		ISO	RGD:737202	D	RGD:9068941	20200609	RGD			PMID:23041435|REF_RGD_ID:10402106
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:737202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19718025
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9004484	Sepsis	disease_progression	ISO	RGD:737202	D	RGD:9068941	20200609	RGD		Pneumonia associated sepsis	PMID:21219633|REF_RGD_ID:4891938
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:2621	D	RGD:9068941	20200609	RGD		associated with Endotoxemia	PMID:21528367|REF_RGD_ID:5684427
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2621	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:heart	PMID:16741021|REF_RGD_ID:2313724
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:734184	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:skeletal muscle	PMID:16816123|REF_RGD_ID:2313725
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:737202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21135413
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9007715	Endometrial Neoplasms	disease_progression	ISO	RGD:737202	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:10831352|REF_RGD_ID:2301256
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9007715	Endometrial Neoplasms	severity	ISO	RGD:737202	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:endometrium	PMID:12485477|REF_RGD_ID:2301252
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9008821	Otitis Media with Effusion		ISO	RGD:2621	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mucosa of the middle ear;	PMID:12875575|REF_RGD_ID:8547977
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23146280|PMID:26124351
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737202	D	RGD:9068941	20200609	RGD		protein:increased expression, alternative form:tumor:increased expression of soluble form, significantly correlated with VEGF expression	PMID:11857378|REF_RGD_ID:2289961
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9008939	Breast Neoplasms	severity	ISO	RGD:737202	D	RGD:9068941	20200609	RGD		protein:altered expression:tumor:positive expression improves survival rate after neoadjuvant chemotherapy, negative expression associated with poor prognosis	PMID:12910290|REF_RGD_ID:2289962
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9261	nasopharynx carcinoma	disease_progression	ISO	RGD:737202	D	RGD:9068941	20210514	RGD			PMID:16480593|REF_RGD_ID:126925191
8807323	Flt1	fms related receptor tyrosine kinase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:734184	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:skeletal muscle	PMID:17823371|REF_RGD_ID:2313719
8807361	Enpp6	ectonucleotide pyrophosphatase/phosphodiesterase 6	gene	DOID:10534	stomach cancer		ISO	RGD:1323210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8807361	Enpp6	ectonucleotide pyrophosphatase/phosphodiesterase 6	gene	DOID:1115	sarcoma		ISO	RGD:1323210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8807361	Enpp6	ectonucleotide pyrophosphatase/phosphodiesterase 6	gene	DOID:12849	autistic disorder		ISO	RGD:1323210	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
8807361	Enpp6	ectonucleotide pyrophosphatase/phosphodiesterase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807373	Crlf1	cytokine receptor like factor 1	gene	DOID:0060294	cold-induced sweating syndrome		ISO	RGD:1322794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cold-induced sweating syndrome | ClinVar Annotator: match by term: Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death	PMID:24488861|PMID:25741868|PMID:31497877
8807373	Crlf1	cytokine receptor like factor 1	gene	DOID:0080329	cold-induced sweating syndrome 1		ISO	RGD:1322794	D	RGD:7240710	20180307	OMIM			
8807373	Crlf1	cytokine receptor like factor 1	gene	DOID:0080329	cold-induced sweating syndrome 1		ISO	RGD:1322794	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 | ClinVar Annotator: match by term: CRLF1-related condition | ClinVar Annotator: match by term: Cold-induced sweating syndrome 1	PMID:12509788|PMID:17436251|PMID:17436252|PMID:19012339|PMID:20186812|PMID:20400119|PMID:21326283|PMID:24008591|PMID:24073352|PMID:24488861|PMID:25326637|PMID:25741868|PMID:27976805|PMID:28492532|PMID:31497877|PMID:35699517
8807373	Crlf1	cytokine receptor like factor 1	gene	DOID:0111019	cone-rod dystrophy 12		ISO	RGD:1322794	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy 12	PMID:25741868|PMID:31497877
8807373	Crlf1	cytokine receptor like factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8807373	Crlf1	cytokine receptor like factor 1	gene	DOID:1909	melanoma		ISO	RGD:1322794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8807373	Crlf1	cytokine receptor like factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807373	Crlf1	cytokine receptor like factor 1	gene	DOID:630	genetic disease		ISO	RGD:1322794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8807373	Crlf1	cytokine receptor like factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807373	Crlf1	cytokine receptor like factor 1	gene	DOID:9007653	Multiple Abnormalities	susceptibility	ISO	RGD:1322794	D	RGD:9068941	20200609	RGD		Cold-induced sweating syndrome-1, OMIM:272430	PMID:12509788|REF_RGD_ID:1600970
8807391	Cmc1	C-X9-C motif containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8807391	Cmc1	C-X9-C motif containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8807391	Cmc1	C-X9-C motif containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8807391	Cmc1	C-X9-C motif containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1606956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8807391	Cmc1	C-X9-C motif containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8807391	Cmc1	C-X9-C motif containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606956	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8807391	Cmc1	C-X9-C motif containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807391	Cmc1	C-X9-C motif containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8807391	Cmc1	C-X9-C motif containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807400	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8807400	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8807400	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:10283	prostate cancer		ISO	RGD:1323289	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8807400	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:10283	prostate cancer		ISO	RGD:1323289	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8807400	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8807400	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8807400	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:1115	sarcoma		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8807400	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:1324	lung cancer		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8807400	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8807400	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:3070	high grade glioma		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8807400	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8807400	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8807400	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1323289	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8807400	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8807400	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807400	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8807400	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8807400	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807400	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:10534	stomach cancer		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:1059	intellectual disability		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:1115	sarcoma		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:1324	lung cancer		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:1909	melanoma		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:2394	ovarian cancer		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:3070	high grade glioma		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:4362	cervical cancer		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:9003133	Hypertelorism		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:9007573	Flatfoot		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8807450	Dhx36	DEAH-box helicase 36	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8807495	Ogfod1	2-oxoglutarate and iron dependent oxygenase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8807495	Ogfod1	2-oxoglutarate and iron dependent oxygenase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8807495	Ogfod1	2-oxoglutarate and iron dependent oxygenase domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605373	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8807495	Ogfod1	2-oxoglutarate and iron dependent oxygenase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807522	Furin	furin, paired basic amino acid cleaving enzyme	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8807522	Furin	furin, paired basic amino acid cleaving enzyme	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8807522	Furin	furin, paired basic amino acid cleaving enzyme	gene	DOID:2349	arteriosclerosis		ISO	RGD:1323167	D	RGD:9068941	20200609	RGD			PMID:15756593|REF_RGD_ID:1582622
8807522	Furin	furin, paired basic amino acid cleaving enzyme	gene	DOID:305	carcinoma		ISO	RGD:1323167	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462|PMID:16316942
8807522	Furin	furin, paired basic amino acid cleaving enzyme	gene	DOID:3275	thymoma		ISO	RGD:1323167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8807522	Furin	furin, paired basic amino acid cleaving enzyme	gene	DOID:3393	coronary artery disease		ISO	RGD:1323167	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:34961328
8807522	Furin	furin, paired basic amino acid cleaving enzyme	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8807522	Furin	furin, paired basic amino acid cleaving enzyme	gene	DOID:4362	cervical cancer		ISO	RGD:1323167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8807522	Furin	furin, paired basic amino acid cleaving enzyme	gene	DOID:5041	esophageal cancer		ISO	RGD:1323167	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8807522	Furin	furin, paired basic amino acid cleaving enzyme	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807522	Furin	furin, paired basic amino acid cleaving enzyme	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1323167	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462|PMID:16316942
8807522	Furin	furin, paired basic amino acid cleaving enzyme	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1323167	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462|PMID:16316942
8807522	Furin	furin, paired basic amino acid cleaving enzyme	gene	DOID:9005643	Experimental Diabetes Mellitus	disease_progression	ISO	RGD:3274	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney	PMID:16541018|REF_RGD_ID:1582625
8807522	Furin	furin, paired basic amino acid cleaving enzyme	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807522	Furin	furin, paired basic amino acid cleaving enzyme	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:0050741	alcohol dependence	disease_progression	ISO	RGD:731027	D	RGD:9068941	20250301	RGD		DNA:SNP: :66V>M	PMID:19170664|REF_RGD_ID:597830066
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:0050741	alcohol dependence	sexual_dimorphism	ISO	RGD:10235	D	RGD:9068941	20250102	RGD		protein:altered expression:hippocampus	PMID:37303582|REF_RGD_ID:596936394
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:0050741	alcohol dependence	treatment	ISO	RGD:2202	D	RGD:9068941	20240127	RGD			PMID:32579730|PMID:34453945|REF_RGD_ID:401959604|REF_RGD_ID:401959610
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:0050742	nicotine dependence		ISO	RGD:10235	D	RGD:9068941	20250501	RGD		protein:increased expression:striatum (mouse)	PMID:33242460|REF_RGD_ID:598154614
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:0050742	nicotine dependence		ISO	RGD:2202	D	RGD:9068941	20240606	RGD		associated with alcohol use disorder;mRNA:increased expression:shell of nucleus accumbens	PMID:25155311|REF_RGD_ID:405850247
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:0050742	nicotine dependence		ISO	RGD:731027	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:17186223|PMID:20418890
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:16061712|REF_RGD_ID:4891119
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:0051061	stroke	treatment	ISO	RGD:2202	D	RGD:9068941	20250116	RGD		associated with middle cerebral artery infarction	PMID:34284448|REF_RGD_ID:597015748
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:0060001	withdrawal disorder		ISO	RGD:2202	D	RGD:9068941	20240111	RGD		associated with morphine dependence;mRNA:alternative form:frontal cortex, midbrain	PMID:25392083|REF_RGD_ID:401950484
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:0060001	withdrawal disorder		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12574402
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:0060001	withdrawal disorder	treatment	ISO	RGD:10235	D	RGD:9068941	20231230	RGD		associated with nicotine dependence	PMID:24682499|REF_RGD_ID:401940143
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24781735
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:21984201|REF_RGD_ID:12801412
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:0060180	colitis		ISO	RGD:10235	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal root ganglion:	PMID:19932037|REF_RGD_ID:8657331
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:0060731	congenital central hypoventilation syndrome		ISO	RGD:731027	D	RGD:9068941	20250724	RGD			PMID:11840487|REF_RGD_ID:734643
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:16018990|REF_RGD_ID:8657066
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:0081292	traumatic brain injury		ISO	RGD:2202	D	RGD:9068941	20250102	RGD		mRNA:increased expression:CA3 field of hippocampus, dentate gyrus	PMID:10925157|REF_RGD_ID:596936229
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:10235	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:inferior colliculus:	PMID:20598895|REF_RGD_ID:8655560
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:10126	keratoconus		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:corneal epithelium, anterior stroma of cornea:	PMID:23489213|REF_RGD_ID:8655632
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:10534	stomach cancer		ISO	RGD:731027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1059	intellectual disability		ISO	RGD:731027	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:11357950
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:20646587|REF_RGD_ID:4891131
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17344400
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:polymorphisms, haplotypes: :196G>A (p.V66M), 270C>T, 11757G>C (human)	PMID:23215636|REF_RGD_ID:10059345
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:decreased expression:parietal cortex	PMID:12654514|REF_RGD_ID:10058980
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.V66M (human)	PMID:16627933|REF_RGD_ID:10059343
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human)	PMID:16565926|REF_RGD_ID:10059346
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:rs1048218 (human)	PMID:18780967|REF_RGD_ID:5508228
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:10235	D	RGD:9068941	20240608	RGD			PMID:30776009|REF_RGD_ID:405850256
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:2202	D	RGD:9068941	20250116	RGD			PMID:24877042|PMID:33352241|REF_RGD_ID:10059402|REF_RGD_ID:597015751
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:21076359|REF_RGD_ID:8655612
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:10914	amnestic disorder		ISO	RGD:2202	D	RGD:9068941	20240201	RGD		protein:decreased expression:amygdala, hippocampus, prefrontal cortex	PMID:31400468|REF_RGD_ID:401960871
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:10914	amnestic disorder	treatment	ISO	RGD:10235	D	RGD:9068941	20240201	RGD			PMID:25061594|PMID:28716085|REF_RGD_ID:10059361|REF_RGD_ID:401960865
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:10933	obsessive-compulsive disorder		ISO	RGD:2202	D	RGD:9068941	20240127	RGD		associated with morphine withdrawal disorder;mRNA:decreased expression:nucleus accumbens	PMID:31693870|REF_RGD_ID:401959588
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:10933	obsessive-compulsive disorder		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:12836135|REF_RGD_ID:734644
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:10933	obsessive-compulsive disorder	treatment	ISO	RGD:2202	D	RGD:9068941	20240711	RGD			PMID:31927718|REF_RGD_ID:405866519
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1094	attention deficit hyperactivity disorder	treatment	ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:25061595|REF_RGD_ID:10059388
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:11446	sciatic neuropathy		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal root ganglion:	PMID:22309829|REF_RGD_ID:8657100
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:24388817|REF_RGD_ID:10059363
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:11832	visual epilepsy		ISO	RGD:731027	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15781040|PMID:21269288|PMID:9073163
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:11981	morbid obesity		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21708048
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:12098	trigeminal neuralgia	treatment	ISO	RGD:2202	D	RGD:9068941	20250109	RGD			PMID:32193501|REF_RGD_ID:596948422
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:12689	acoustic neuroma		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		mRNA:increased expression:peripheral nerve:	PMID:19937367|REF_RGD_ID:8655552
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:12849	autistic disorder		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17349978|PMID:20662941
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:12858	Huntington's disease		ISO	RGD:10235	D	RGD:9068941	20200609	RGD			PMID:19499586|REF_RGD_ID:10059353
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:12858	Huntington's disease		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:cerebral cortex	PMID:18093249|REF_RGD_ID:10058981
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:12858	Huntington's disease	treatment	ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:17885687|REF_RGD_ID:10415531
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:12894	Sjogren's syndrome	severity	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:18830907|REF_RGD_ID:8657019
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:13399	color blindness	susceptibility	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		associated with  Alcoholism;DNA:polymorphism:cds:p.V66M(rs6265)(human)	PMID:21640793|REF_RGD_ID:8655850
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:16315781|REF_RGD_ID:4891110
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:13544	low tension glaucoma		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:increased expression:tear:	PMID:19861219|REF_RGD_ID:8655604
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:13709	premature ejaculation		ISO	RGD:2202	D	RGD:9068941	20250308	RGD		protein:decreased expression:raphe nuclei	PMID:34384732|REF_RGD_ID:597830150
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:14330	Parkinson's disease		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276553
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:14330	Parkinson's disease		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:decreased expression:substantia nigra pars compacta:	PMID:10208589|REF_RGD_ID:8657025
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:14330	Parkinson's disease	no_association	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human)	PMID:16565926|REF_RGD_ID:10059346
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1459	hypothyroidism		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:20600205|REF_RGD_ID:4891132
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1470	major depressive disorder		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:21803060|REF_RGD_ID:8655887
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1555	urticaria		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:increased expression:serum,skin:	PMID:21676041|REF_RGD_ID:8657027
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1561	cognitive disorder		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		associated with WAGR Syndrome;DNA:haploinsufficiency: :	PMID:23517654|REF_RGD_ID:8655893
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1561	cognitive disorder	treatment	ISO	RGD:2202	D	RGD:9068941	20250116	RGD		associated with hypertension	PMID:22948091|REF_RGD_ID:597015756
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1574	alcohol use disorder		ISO	RGD:10235	D	RGD:9068941	20240229	RGD		protein:decreased expression:cerebellum, hippocampus	PMID:19100286|REF_RGD_ID:401976492
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1574	alcohol use disorder		ISO	RGD:10235	D	RGD:9068941	20250104	RGD		mRNA, protein:altered expression:brain	PMID:32330588|REF_RGD_ID:596936412
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1574	alcohol use disorder		ISO	RGD:2202	D	RGD:9068941	20200716	RGD		protein:decreased expression:plasma	PMID:32135570|REF_RGD_ID:35673317
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1574	alcohol use disorder		ISO	RGD:2202	D	RGD:9068941	20231221	RGD		mRNA,protein:decreased expression:hippocampus, plasma (rat)	PMID:30277635|REF_RGD_ID:401938665
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1574	alcohol use disorder		ISO	RGD:2202	D	RGD:9068941	20240215	RGD		protein:altered expression:brain	PMID:15307153|REF_RGD_ID:401965482
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1574	alcohol use disorder		ISO	RGD:731027	D	RGD:9068941	20231221	RGD		protein:decreased expression:plasma (human)	PMID:30277635|REF_RGD_ID:401938665
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:2202	D	RGD:9068941	20241221	RGD			PMID:33919862|REF_RGD_ID:596933362
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1596	depressive disorder		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:22097208|REF_RGD_ID:5684923
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1596	depressive disorder		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:20920483|REF_RGD_ID:4891127
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1596	depressive disorder		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:16330021|PMID:21945287
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1596	depressive disorder		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:lymphocyte, platelet	PMID:20227453|REF_RGD_ID:4891139
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:10235	D	RGD:9068941	20250104	RGD		associated with Endotoxemia	PMID:33721753|REF_RGD_ID:596936413
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:10235	D	RGD:9068941	20250109	RGD		associated with alcohol use disorder	PMID:31820774|REF_RGD_ID:596938172
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:10235	D	RGD:9068941	20250308	RGD			PMID:37716030|REF_RGD_ID:597830154
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:2202	D	RGD:9068941	20250116	RGD			PMID:24128869|PMID:32682983|PMID:33248184|REF_RGD_ID:10059357|REF_RGD_ID:597015759|REF_RGD_ID:597015761
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:2202	D	RGD:9068941	20250116	RGD		associated with Experimental Diabetes Mellitus	PMID:31601968|PMID:31660632|REF_RGD_ID:596948419|REF_RGD_ID:597015749
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:2202	D	RGD:9068941	20250118	RGD		associated with stress-related disorder	PMID:32578646|REF_RGD_ID:597015768
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1679	cystitis		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:20079809|PMID:9631447|REF_RGD_ID:5684910|REF_RGD_ID:8657090
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1686	glaucoma		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		protein:decreased expression:eye:	PMID:10711692|REF_RGD_ID:8655608
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1686	glaucoma	treatment	ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:21498611|REF_RGD_ID:8655886
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1686	glaucoma	treatment	ISO	RGD:731027	D	RGD:9068941	20250109	RGD			PMID:19422885|PMID:32872441|REF_RGD_ID:596948417|REF_RGD_ID:8655601
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1824	status epilepticus		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:19366663|PMID:19686240|REF_RGD_ID:4891125|REF_RGD_ID:5684912
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1824	status epilepticus		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8635431|PMID:8821376
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1824	status epilepticus		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:19686240|REF_RGD_ID:5684912
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:1826	epilepsy		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15282290
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:2030	anxiety disorder	ameliorates	ISO	RGD:2202	D	RGD:9068941	20231221	RGD		associated with alcohol dependence	PMID:24103311|REF_RGD_ID:401938663
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:2030	anxiety disorder	ameliorates	ISO	RGD:2202	D	RGD:9068941	20231221	RGD		associated with alcohol use disorder	PMID:18322102|PMID:25814047|REF_RGD_ID:401938616|REF_RGD_ID:401938652
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:2030	anxiety disorder	treatment	ISO	RGD:2202	D	RGD:9068941	20220210	RGD			PMID:25283985|REF_RGD_ID:151356735
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:2055	post-traumatic stress disorder	susceptibility	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:196G>A (p.V66M) (human)	PMID:23319005|REF_RGD_ID:10059367
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:2055	post-traumatic stress disorder	treatment	ISO	RGD:2202	D	RGD:9068941	20240104	RGD			PMID:28791385|REF_RGD_ID:401940159
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:2202	D	RGD:9068941	20250116	RGD		associated with middle cerebral artery infarction	PMID:33227709|REF_RGD_ID:597015753
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:2316	brain ischemia		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19922383
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:2377	multiple sclerosis	onset	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:20656764|REF_RGD_ID:5684915
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:2468	psychotic disorder		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14708030
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:2559	opiate dependence		ISO	RGD:731027	D	RGD:9068941	20240606	RGD		protein:increased expression:serum	PMID:21890593|REF_RGD_ID:405850248
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:2560	morphine dependence		ISO	RGD:2202	D	RGD:9068941	20240125	RGD		protein:decreased expression:nucleus accumbens	PMID:32428531|REF_RGD_ID:401959372
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:2560	morphine dependence		ISO	RGD:2202	D	RGD:9068941	20250102	RGD			PMID:32860885|REF_RGD_ID:596936242
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:2560	morphine dependence		ISO	RGD:2202	D	RGD:9068941	20250102	RGD		mRNA:increased expression:hippocampus	PMID:28940732|REF_RGD_ID:596936232
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:2560	morphine dependence	treatment	ISO	RGD:10235	D	RGD:9068941	20250104	RGD			PMID:27461790|PMID:32323150|REF_RGD_ID:401940145|REF_RGD_ID:596936415
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:2560	morphine dependence	treatment	ISO	RGD:2202	D	RGD:9068941	20250102	RGD			PMID:21872672|REF_RGD_ID:596936244
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:2841	asthma		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:11737043|REF_RGD_ID:4891123
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:2841	asthma		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :p.V66M, -270C>T (human)	PMID:17584309|REF_RGD_ID:4891067
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:2841	asthma		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood, eosinophil	PMID:12752594|REF_RGD_ID:4891122
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:2841	asthma	severity	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :p.V66M (rs6265) (human)	PMID:19895626|REF_RGD_ID:4891117
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:2841	asthma	severity	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:20874832|REF_RGD_ID:4891063
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:2841	asthma	susceptibility	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human)	PMID:21723144|REF_RGD_ID:8655967
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:2952	inner ear disease		IEP		D	RGD:11556223|PMID:10536212	20161028	RGD			
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:3082	interstitial lung disease		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		associated with Sjogren's Syndrome;protein:decreased expression:serum:	PMID:24691584|REF_RGD_ID:8657022
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:3310	atopic dermatitis		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:mast cell	PMID:17845420|REF_RGD_ID:8657065
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:3310	atopic dermatitis		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:17073871|REF_RGD_ID:8657069
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:3310	atopic dermatitis	no_association	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.V66M(human)	PMID:19038326|REF_RGD_ID:8657067
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:3310	atopic dermatitis	susceptibility	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:polymorphism::C270T(human)	PMID:19522715|REF_RGD_ID:8657028
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:3312	bipolar disorder		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14708030|PMID:19018715
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:3324	mood disorder	treatment	ISO	RGD:731027	D	RGD:9068941	20240606	RGD			PMID:34078872|REF_RGD_ID:405850253
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:2202	D	RGD:9068941	20250109	RGD			PMID:20417695|PMID:28202057|PMID:31927682|PMID:35218623|REF_RGD_ID:401960864|REF_RGD_ID:405878057|REF_RGD_ID:4891138|REF_RGD_ID:596948420
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum	PMID:12917229|REF_RGD_ID:4891121
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:418	systemic scleroderma		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:21085492|REF_RGD_ID:5144060
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:4483	rhinitis		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nasal cavity epithelium	PMID:20464992|REF_RGD_ID:4891116
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:4483	rhinitis	susceptibility	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human)	PMID:21723144|REF_RGD_ID:8655967
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:5154	borna disease		ISO	RGD:2202	D	RGD:9068941	20240222	RGD		mRNA:decreased expression:hippocampus	PMID:11175319|REF_RGD_ID:2325644
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:5295	intestinal disease	treatment	ISO	RGD:2202	D	RGD:9068941	20250111	RGD			PMID:32120967|REF_RGD_ID:596948431
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:5419	schizophrenia		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12951204|PMID:14708030|PMID:17442489|PMID:18408624
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:6088	acute stress disorder		ISO	RGD:2202	D	RGD:9068941	20250308	RGD		mRNA:increased expression:prefrontal  cortex	PMID:30425618|REF_RGD_ID:597830163
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:670	amphetamine abuse		ISO	RGD:2202	D	RGD:9068941	20240222	RGD		protein:decreased expression:hippocampus	PMID:24407463|REF_RGD_ID:401976437
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:670	amphetamine abuse		ISO	RGD:2202	D	RGD:9068941	20250102	RGD		mRNA:increased expression:nucleus accumbens, dorsal striatum	PMID:33961872|REF_RGD_ID:596936246
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:670	amphetamine abuse		ISO	RGD:2202	D	RGD:9068941	20250109	RGD		protein:increased expression:nucleus accumbens, ventral tegmental area	PMID:37904065|REF_RGD_ID:596938173
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:670	amphetamine abuse		ISO	RGD:2202	D	RGD:9068941	20250116	RGD		protein:increased expression:frontal cortex, striatum	PMID:31693929|REF_RGD_ID:597015747
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:670	amphetamine abuse		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20736000
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16023256
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:809	cocaine abuse		ISO	RGD:10235	D	RGD:9068941	20250109	RGD		mRNA:increased expression:nucleus accumbens	PMID:31280332|REF_RGD_ID:596948400
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:8466	retinal degeneration		ISO	RGD:10235	D	RGD:9068941	20200609	RGD			PMID:12764104|PMID:17525224|REF_RGD_ID:8655627|REF_RGD_ID:8655860
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:8466	retinal degeneration	treatment	ISO	RGD:10235	D	RGD:9068941	20200609	RGD			PMID:16123443|REF_RGD_ID:8655588
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:8466	retinal degeneration	treatment	ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:12454046|REF_RGD_ID:8655652
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:863	nervous system disease		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22240983
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:8725	vascular dementia	treatment	ISO	RGD:2202	D	RGD:9068941	20250116	RGD			PMID:24622829|PMID:32227765|REF_RGD_ID:10059369|REF_RGD_ID:597015752
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:8805	intermediate coronary syndrome		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:16186425|REF_RGD_ID:4891111
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:8947	diabetic retinopathy		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:decreased expression:retina:	PMID:15331553|REF_RGD_ID:8655657
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:19203225|REF_RGD_ID:4891066
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:16022868|REF_RGD_ID:4891112
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:10235	D	RGD:9068941	20240606	RGD			PMID:22490786|REF_RGD_ID:405850245
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:24551172|REF_RGD_ID:10059354
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9000111	Radiation Injuries	treatment	ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:24333433|REF_RGD_ID:10059359
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9000307	Presbycusis		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:cochlea	PMID:17168119|REF_RGD_ID:8655551
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9000499	Alcoholic Intoxication		ISO	RGD:10235	D	RGD:9068941	20240203	RGD		mRNA,protein:decreased expression:cerebellum	PMID:19861148|REF_RGD_ID:401965398
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9000585	Intervertebral Disc Disease		ISO	RGD:731027	D	RGD:9068941	20240608	RGD		mRNA:increased expression:intervertebral disc	PMID:37888810|REF_RGD_ID:405850252
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9000641	Pain		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:20452292|REF_RGD_ID:4891137
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9000998	Brain Injuries		ISO	RGD:10235	D	RGD:9068941	20200609	RGD			PMID:20544832|REF_RGD_ID:4891136
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9000998	Brain Injuries		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:20544832|REF_RGD_ID:4891136
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9000998	Brain Injuries		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15500971|PMID:21269288
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9000998	Brain Injuries		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:20544832|REF_RGD_ID:4891136
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:10235	D	RGD:9068941	20250102	RGD		associated with alcohol use disorder;protein:increased expression:thyroid gland	PMID:24334784|REF_RGD_ID:401976286
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:2202	D	RGD:9068941	20241031	RGD		associated with alcohol use disorder;mRNA, protein:decreased expression:hippocampus, serum	PMID:32497709|REF_RGD_ID:401950485
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:2202	D	RGD:9068941	20241219	RGD		associated with morphine withdrawal disorder;protein:decreased expression:hippocampus, prefrontal cortex	PMID:33915201|REF_RGD_ID:401959752
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:2202	D	RGD:9068941	20250102	RGD		associated with opiate dependence;protein:decreased expression:hippocampus	PMID:18262500|REF_RGD_ID:596936231
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	ISO	RGD:2202	D	RGD:9068941	20240210	RGD		mRNA:altered expression:hippocampus|hypothalamus (rat)	PMID:26180184|REF_RGD_ID:11074449
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9001234	Prenatal Exposure Delayed Effects	treatment	ISO	RGD:2202	D	RGD:9068941	20241031	RGD		associated with stress-related disorder	PMID:25442671|REF_RGD_ID:408361837
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:10235	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:spinal dorsal horn:	PMID:23466809|REF_RGD_ID:8657102
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:fourth lumbar dorsal root ganglion:	PMID:11425916|REF_RGD_ID:8657088
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:2202	D	RGD:9068941	20250111	RGD			PMID:32822705|REF_RGD_ID:596948433
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9001472	Nasal Polyps		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		associated with Sinusitis;protein:decreased expression:respiratory system mucosa	PMID:19958603|REF_RGD_ID:4891064
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:10549664|REF_RGD_ID:8655861
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9001733	Tinnitus		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cochlea:	PMID:18524887|REF_RGD_ID:8655535
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9001733	Tinnitus	severity	ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:22281446|REF_RGD_ID:8655556
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9002031	Frontotemporal Lobar Degeneration		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :196G>A (p.V66M), 11757G>C (human)	PMID:22596272|REF_RGD_ID:10059351
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9002031	Frontotemporal Lobar Degeneration	no_association	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2049045 (human)	PMID:22596272|REF_RGD_ID:10059351
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9002138	Spinal Cord Reperfusion Injury	treatment	ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:24361987|REF_RGD_ID:10059358
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:20557422|REF_RGD_ID:4891134
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:10235	D	RGD:9068941	20200609	RGD		associated with Peripheral Nerve Injuries;	PMID:12435470|REF_RGD_ID:8657101
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:10235	D	RGD:9068941	20200609	RGD		associated with Sciatic Neuropathy;	PMID:12470870|REF_RGD_ID:8657091
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		associated with Pancreatitis, Chronic;	PMID:21499209|REF_RGD_ID:8657093
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		associated with Peripheral Nerve Injuries;	PMID:11425916|REF_RGD_ID:8657088
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		associated with Sciatic Neuropathy;	PMID:10779676|REF_RGD_ID:8657114
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		associated with inflammation;protein:increased expression:dorsal root ganglion:	PMID:21958434|REF_RGD_ID:8657122
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:21864655|REF_RGD_ID:8657099
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9002669	Hypoxia		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16553631
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:20818776|REF_RGD_ID:4891129
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9002704	Leukoencephalopathies	treatment	ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:24322053|REF_RGD_ID:10045369
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9002735	alcohol withdrawal syndrome		ISO	RGD:2202	D	RGD:9068941	20250102	RGD		protein:increased expression:hippocampus, prefrontal cortex	PMID:26659122|REF_RGD_ID:596936245
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9002735	alcohol withdrawal syndrome	severity	ISO	RGD:731027	D	RGD:9068941	20240530	RGD			PMID:20553781|REF_RGD_ID:405849399
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:23212569|REF_RGD_ID:10059360
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:10235	D	RGD:9068941	20200609	RGD			PMID:22723694|REF_RGD_ID:8655575
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:10235	D	RGD:9068941	20200609	RGD		protein:increased expression:cochlea:	PMID:19925854|REF_RGD_ID:8636263
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:17275194|REF_RGD_ID:8655559
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:18313855|REF_RGD_ID:10059347
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15372491|PMID:19457078|PMID:19686240|PMID:8921280|PMID:8978711
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9003740	Nerve Injuries		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		mRNA:increased expression:geniculate ganglion:	PMID:19848245|REF_RGD_ID:8655574
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9003740	Nerve Injuries		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		protein:increased expression:mylonhyoid nerve:	PMID:23190308|REF_RGD_ID:8657332
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina	PMID:20554625|REF_RGD_ID:4891135
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9004354	Alcohol-Related Disorders		ISO	RGD:2202	D	RGD:9068941	20240208	RGD		protein:altered expression:brain	PMID:10837897|REF_RGD_ID:401965408
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9004354	Alcohol-Related Disorders		ISO	RGD:2202	D	RGD:9068941	20240229	RGD		protein:altered expression:cerebral cortex	PMID:14604765|REF_RGD_ID:401976539
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9004354	Alcohol-Related Disorders	sexual_dimorphism	ISO	RGD:2202	D	RGD:9068941	20240229	RGD		protein:altered expression:frontal cortex,hippocampus,occipital cortex	PMID:18652597|REF_RGD_ID:401976540
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9004538	Hearing Loss		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cochlea:	PMID:18524887|REF_RGD_ID:8655535
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9004659	Respiration Disorders		ISO	RGD:10235	D	RGD:9068941	20200609	RGD			PMID:8757249|REF_RGD_ID:8655536
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9004866	Ataxia		ISO	RGD:10235	D	RGD:9068941	20200609	RGD			PMID:9712667|REF_RGD_ID:8632994
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9004964	Referred Pain		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:23313710|REF_RGD_ID:8655857
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:2202	D	RGD:9068941	20240201	RGD		mRNA:increased expression:ventral tegmental area (rat)	PMID:30550948|REF_RGD_ID:401959617
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:2202	D	RGD:9068941	20250102	RGD			PMID:32860885|REF_RGD_ID:596936242
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:2202	D	RGD:9068941	20250102	RGD		mRNA, protein:increased expression:amygdala	PMID:26567727|REF_RGD_ID:596936230
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:2202	D	RGD:9068941	20250220	RGD		mRNA:decreased expression:dorsal raphe nucleus	PMID:24055683|REF_RGD_ID:405866344
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9005236	Drug Eruptions		ISO	RGD:10235	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lymph node, ear:	PMID:19904815|REF_RGD_ID:8657071
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9005372	Inflammation		ISO	RGD:10235	D	RGD:9068941	20200609	RGD		protein:increased expression: trigeminal V ganglion	PMID:20223282|REF_RGD_ID:4891140
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9005372	Inflammation		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		protein:increased expression: trigeminal V ganglion	PMID:20223282|REF_RGD_ID:4891140
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9005372	Inflammation		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21087489
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9005587	Starvation		ISO	RGD:2202	D	RGD:9068941	20250215	RGD		mRNA:increased expression:hippocampus, nucleus accumbens (rat)	PMID:31609135|REF_RGD_ID:597805881
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:14973246|PMID:17618281|PMID:17651427|PMID:18311559|PMID:19321768|PMID:20711185|PMID:20810894
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9005632	Cocaine-Related Disorders	severity	ISO	RGD:2202	D	RGD:9068941	20210416	RGD			PMID:23583595|REF_RGD_ID:38501054
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9005632	Cocaine-Related Disorders	susceptibility	ISO	RGD:2202	D	RGD:9068941	20200814	RGD			PMID:23583595|REF_RGD_ID:38501054
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2202	D	RGD:9068941	20250102	RGD			PMID:24857910|PMID:30816461|REF_RGD_ID:10059399|REF_RGD_ID:596936233
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9005832	Amyloid Plaques		ISO	RGD:10235	D	RGD:9068941	20200609	RGD			PMID:15014117|REF_RGD_ID:10059349
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9006065	Arthralgia	treatment	ISO	RGD:2202	D	RGD:9068941	20250116	RGD		associated with osteoarthritis	PMID:31479064|REF_RGD_ID:597015765
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9006086	Intervertebral Disc Displacement		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal root ganglion:	PMID:14615047|REF_RGD_ID:8657329
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9006302	Binge Drinking		ISO	RGD:2202	D	RGD:9068941	20240525	RGD		protein:altered expression:amygdala, pyriform cortex, bed nucleus of stria terminalis	PMID:23588198|REF_RGD_ID:405849391
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9006302	Binge Drinking		ISO	RGD:2202	D	RGD:9068941	20250612	RGD		associated with Marchigian Sardinian alcohol-preferring rats; mRNA: increased expression:amygdala	PMID:33671048|REF_RGD_ID:616390065
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:10235	D	RGD:9068941	20250104	RGD			PMID:30232930|PMID:32564283|REF_RGD_ID:596936243|REF_RGD_ID:596936414
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:2202	D	RGD:9068941	20241219	RGD			PMID:29065194|PMID:29571823|PMID:33324197|PMID:34964700|REF_RGD_ID:401959211|REF_RGD_ID:401965400|REF_RGD_ID:405850212|REF_RGD_ID:596933096
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:731027	D	RGD:9068941	20240229	RGD		associated with brain ischemia	PMID:29599834|REF_RGD_ID:401976548
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9006604	Anhedonia	treatment	ISO	RGD:2202	D	RGD:9068941	20250111	RGD		associated with sciatic neuropathy	PMID:29882089|REF_RGD_ID:596948432
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:11935372|REF_RGD_ID:1580935
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9007090	Experimental Seizures		ISO	RGD:2202	D	RGD:9068941	20250308	RGD		mRNA:increased expression:hippocampus	PMID:22826223|REF_RGD_ID:597830152
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9007090	Experimental Seizures	treatment	ISO	RGD:2202	D	RGD:9068941	20241219	RGD			PMID:17041593|REF_RGD_ID:596933097
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9007204	Dysbiosis		ISO	RGD:10235	D	RGD:9068941	20250104	RGD		associated with alcohol dependence;mRNA:decreased expression:hippocampus, prefrontal cortex	PMID:30417952|REF_RGD_ID:596938163
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9007402	Gliosis		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21087489
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9007480	Hyperoxia		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:15821016|REF_RGD_ID:4891113
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9007633	Body Weight		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22344219|PMID:22344221
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9007980	Sleep Deprivation	treatment	ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:25450575|REF_RGD_ID:10059355
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9008023	Memory Disorders		ISO	RGD:2202	D	RGD:9068941	20250724	RGD		associated with alcohol use disorder;mRNA,protein:decreased expression:hippocampus	PMID:34427953|REF_RGD_ID:401959600
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9008023	Memory Disorders		ISO	RGD:731027	D	RGD:9068941	20250724	RGD		associated with alcohol use disorder; protein:decreased expression:plasma (human)	PMID:30277635|REF_RGD_ID:401938665
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9008023	Memory Disorders	treatment	ISO	RGD:10235	D	RGD:9068941	20240104	RGD			PMID:29157831|REF_RGD_ID:401940181
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9008023	Memory Disorders	treatment	ISO	RGD:2202	D	RGD:9068941	20240201	RGD			PMID:29704550|REF_RGD_ID:401960858
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9008023	Memory Disorders	treatment	ISO	RGD:2202	D	RGD:9068941	20240201	RGD		associated with Subarachnoid Hemorrhage	PMID:26822402|REF_RGD_ID:401960859
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9008023	Memory Disorders	treatment	ISO	RGD:2202	D	RGD:9068941	20250109	RGD		associated with Sleep Deprivation	PMID:32157827|REF_RGD_ID:596948421
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:10235	D	RGD:9068941	20200609	RGD			PMID:9520478|REF_RGD_ID:8655637
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:11050383|REF_RGD_ID:8655586
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9008091	Optic Nerve Injuries	treatment	ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:15140649|REF_RGD_ID:8655584
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9008103	Seasonal Allergic Rhinitis	severity	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, nasal cavity epithelium	PMID:18266897|REF_RGD_ID:5144117
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9008520	Chronic Pain		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:anterior cingulate cortex	PMID:24518228|REF_RGD_ID:10059366
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9008520	Chronic Pain		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		protein:increased expression:frontal cortex, neuron	PMID:11360665|REF_RGD_ID:5684922
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9008680	Respiratory Tract Infections		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:decreased expression:platelet, serum	PMID:17317133|REF_RGD_ID:4891069
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9008681	Deafness		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18607918|PMID:19365690
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9008681	Deafness	treatment	ISO	RGD:10235	D	RGD:9068941	20200609	RGD			PMID:23150788|REF_RGD_ID:8655576
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9008681	Deafness	treatment	ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:21452221|REF_RGD_ID:8639313
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9008820	Visceral Pain		ISO	RGD:10235	D	RGD:9068941	20200609	RGD			PMID:21997550|REF_RGD_ID:8655978
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9008820	Visceral Pain		ISO	RGD:10235	D	RGD:9068941	20200609	RGD		associated with Colitis; protein:increased expression:dorsal root ganglion:	PMID:19932037|REF_RGD_ID:8657331
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:17151862|REF_RGD_ID:10059350
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9427	hypertensive encephalopathy	treatment	ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:24730417|REF_RGD_ID:10059400
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9470	bacterial meningitis		ISO	RGD:10235	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:hippocampus	PMID:16141791|REF_RGD_ID:5684920
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9470	bacterial meningitis		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hippocampus,cerebral cortex:	PMID:22683802|REF_RGD_ID:8655554
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9505	cannabis abuse		ISO	RGD:2202	D	RGD:9068941	20250118	RGD		protein:decreased expression:frontal cortex, hippocampus	PMID:22083592|REF_RGD_ID:597015776
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9719	neovascular inflammatory vitreoretinopathy		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:decreased expression:photoreceptor outer segment layer:	PMID:18405896|REF_RGD_ID:8655629
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9743	diabetic neuropathy		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:20557422|REF_RGD_ID:4891134
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9743	diabetic neuropathy	treatment	ISO	RGD:2202	D	RGD:9068941	20250109	RGD		associated with Experimental Diabetes Mellitus	PMID:31601968|REF_RGD_ID:596948419
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9778	irritable bowel syndrome		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:increased expression:colonic mucosa,intestinal intestine:	PMID:21997550|REF_RGD_ID:8655978
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:987	alopecia		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:increased expression:dermal papilla:	PMID:21729031|REF_RGD_ID:8657081
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9970	obesity		ISO	RGD:731027	D	RGD:9068941	20250724	RGD		protein:decreased expression:plasma	PMID:17151862|REF_RGD_ID:10059350
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9970	obesity		ISO	RGD:731027	D	RGD:9068941	20251106	RGD		associated with gestational diabetes mellitus; DNA:SNP: :rs6265	PMID:33145279|REF_RGD_ID:629006597
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9975	cocaine dependence		ISO	RGD:2202	D	RGD:9068941	20241219	RGD			PMID:18990365|REF_RGD_ID:596933098
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9975	cocaine dependence		ISO	RGD:731027	D	RGD:9068941	20240203	RGD			PMID:14973246|REF_RGD_ID:401965389
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9976	heroin dependence		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17715210
8807547	Bdnf	brain derived neurotrophic factor	gene	DOID:9976	heroin dependence		ISO	RGD:731027	D	RGD:9068941	20240222	RGD		protein:decreased expression:serum	PMID:17715210|REF_RGD_ID:401976440
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732305	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:0111310	familial febrile seizures 2		ISO	RGD:732305	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 17 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 17 | ClinVar Annotator: match by term: FEBRILE SEIZURES, FAMILIAL, 2 | ClinVar Annotator: match by term: Febrile seizures, familial, 2 | ClinVar Annotator: match by term: HCN2 related developmental and epileptic encephalopathy | ClinVar Annotator: match by term: HCN2-related condition	PMID:24033266|PMID:25741868|PMID:28492532|PMID:29064616
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:0111310	familial febrile seizures 2	susceptibility	ISO	RGD:732305	D	RGD:7240710	20260729	OMIM			
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:0111428	essential tremor 1		ISO	RGD:732305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:10534	stomach cancer		ISO	RGD:732305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:1059	intellectual disability		ISO	RGD:732305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:732305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:1324	lung cancer		ISO	RGD:732305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:1389	polyneuropathy		ISO	RGD:732305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:1826	epilepsy		ISO	RGD:732305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:2723	dermatitis		ISO	RGD:620689	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal root ganglion:	PMID:23236374|REF_RGD_ID:9686396
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:5041	esophageal cancer		ISO	RGD:732305	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:630	genetic disease		ISO	RGD:732305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:9000053	Headache		ISO	RGD:732305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:9000930	Dental Pulp Exposure		ISO	RGD:620689	D	RGD:9068941	20200609	RGD		protein:increased expression:neuron:	PMID:17645513|REF_RGD_ID:9686147
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:620689	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:myocyte:	PMID:19471099|REF_RGD_ID:9693689
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:9004866	Ataxia		ISO	RGD:732305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620689	D	RGD:9068941	20200609	RGD		protein:increased expression:neuron:	PMID:19815055|REF_RGD_ID:9693680
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:9007956	Febrile Seizures		ISO	RGD:732305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Simple febrile seizure	PMID:25741868
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:9007970	Chronic Cerebral Hypoperfusion		ISO	RGD:620689	D	RGD:9068941	20200609	RGD			PMID:24838625|REF_RGD_ID:9686415
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8807562	Hcn2	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	gene	DOID:9471	meningitis		ISO	RGD:620689	D	RGD:9068941	20200609	RGD		protein:increased expression:neuron:	PMID:19409968|REF_RGD_ID:2316615
8807574	Kazn	kazrin, periplakin interacting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8807574	Kazn	kazrin, periplakin interacting protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8807574	Kazn	kazrin, periplakin interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1604041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8807574	Kazn	kazrin, periplakin interacting protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8807574	Kazn	kazrin, periplakin interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807574	Kazn	kazrin, periplakin interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8807574	Kazn	kazrin, periplakin interacting protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8807574	Kazn	kazrin, periplakin interacting protein	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8807574	Kazn	kazrin, periplakin interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807600	Zbtb42	zinc finger and BTB domain containing 42	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2290506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8807600	Zbtb42	zinc finger and BTB domain containing 42	gene	DOID:0061262	lethal congenital contracture syndrome 6		ISO	RGD:2290506	D	RGD:7240710	20180130	OMIM			
8807600	Zbtb42	zinc finger and BTB domain containing 42	gene	DOID:0061262	lethal congenital contracture syndrome 6		ISO	RGD:2290506	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lethal congenital contracture syndrome 6 | ClinVar Annotator: match by term: ZBTB42-related condition	PMID:25741868
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:0050567	orofacial cleft		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip/palate	
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:0050581	brachydactyly		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:23621943|PMID:25741868
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:0050889	non-syndromic intellectual disability		ISO	RGD:1606024	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Non-syndromic intellectual disability	PMID:25741868
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1606024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:0111358	Floating-Harbor syndrome		ISO	RGD:1606024	D	RGD:7240710	20180130	OMIM			
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:0111358	Floating-Harbor syndrome		ISO	RGD:1606024	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FLOATING-HARBOR SYNDROME | ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: Pelletier-Leisti syndrome | ClinVar Annotator: match by term: SRCAP-related condition	PMID:11522779|PMID:16199547|PMID:18414213|PMID:20358590|PMID:22265015|PMID:22965468|PMID:23193612|PMID:23621943|PMID:24970356|PMID:25433523|PMID:25590979|PMID:25741868|PMID:27208210|PMID:28492532|PMID:30138938|PMID:31200758|PMID:31715605|PMID:32109418|PMID:33909990|PMID:35904121|PMID:38116086
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:10534	stomach cancer		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:1059	intellectual disability		ISO	RGD:1606024	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:32581362
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:10907	microcephaly		ISO	RGD:1606024	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:1115	sarcoma		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:12849	autistic disorder		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:1682	congenital heart disease		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:1826	epilepsy		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizure	
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:1909	melanoma		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:4362	cervical cancer		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1606024	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:630	genetic disease		ISO	RGD:1606024	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23193612|PMID:23621943|PMID:25741868|PMID:28492532|PMID:30138938|PMID:32109418|PMID:35904121|PMID:38116086
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:674	cleft palate		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:23621943|PMID:25741868|PMID:28492532|PMID:33909990
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:9003137	Photophobia		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Photophobia	
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:9004230	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES		ISO	RGD:1606024	D	RGD:7240710	20220209	OMIM			
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:9004230	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	PMID:16199547|PMID:25741868|PMID:27208210|PMID:28492532|PMID:33909990
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1606024	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532|PMID:33909990
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:9004507	Hirsutism		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:23621943|PMID:25741868
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:9004538	Hearing Loss		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:23621943|PMID:25741868
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:9004866	Ataxia		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:9005077	Joint Instability		ISO	RGD:1606024	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:23621943|PMID:25741868
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606024	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1606024	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:23621943|PMID:25741868
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23621943|PMID:25741868
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:23621943|PMID:25741868
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:9008582	Developmental Disease		ISO	RGD:1606024	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8807614	Srcap	Snf2 related CREBBP activator protein	gene	DOID:9296	cleft lip		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:25741868|PMID:28492532|PMID:33909990
8807667	Pde6d	phosphodiesterase 6D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8807667	Pde6d	phosphodiesterase 6D	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1314689	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis	
8807667	Pde6d	phosphodiesterase 6D	gene	DOID:0110991	Joubert syndrome 22		ISO	RGD:1314689	D	RGD:7240710	20180130	OMIM			
8807667	Pde6d	phosphodiesterase 6D	gene	DOID:0110991	Joubert syndrome 22		ISO	RGD:1314689	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 22 | ClinVar Annotator: match by term: Joubert syndrome 22 | ClinVar Annotator: match by term: PDE6D-related condition	PMID:17496142|PMID:17576681|PMID:24166846|PMID:25741868|PMID:28492532|PMID:30423442|PMID:9536098
8807667	Pde6d	phosphodiesterase 6D	gene	DOID:10534	stomach cancer		ISO	RGD:1314689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8807667	Pde6d	phosphodiesterase 6D	gene	DOID:630	genetic disease		ISO	RGD:1314689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8807667	Pde6d	phosphodiesterase 6D	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1314689	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	
8807667	Pde6d	phosphodiesterase 6D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807676	Ppp1r12a	protein phosphatase 1 regulatory subunit 12A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8807676	Ppp1r12a	protein phosphatase 1 regulatory subunit 12A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8807676	Ppp1r12a	protein phosphatase 1 regulatory subunit 12A	gene	DOID:10534	stomach cancer		ISO	RGD:1350163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8807676	Ppp1r12a	protein phosphatase 1 regulatory subunit 12A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8807676	Ppp1r12a	protein phosphatase 1 regulatory subunit 12A	gene	DOID:4362	cervical cancer		ISO	RGD:1350163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8807676	Ppp1r12a	protein phosphatase 1 regulatory subunit 12A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807676	Ppp1r12a	protein phosphatase 1 regulatory subunit 12A	gene	DOID:630	genetic disease		ISO	RGD:1350163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8807676	Ppp1r12a	protein phosphatase 1 regulatory subunit 12A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8807676	Ppp1r12a	protein phosphatase 1 regulatory subunit 12A	gene	DOID:9006721	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME		ISO	RGD:1350163	D	RGD:7240710	20200715	OMIM			
8807676	Ppp1r12a	protein phosphatase 1 regulatory subunit 12A	gene	DOID:9006721	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME		ISO	RGD:1350163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME | ClinVar Annotator: match by term: Genitourinary and/or Brain Malformation Syndrome | ClinVar Annotator: match by term: Genitourinary and/or brain malformation syndrome | ClinVar Annotator: match by term: PPP1R12A-related condition	PMID:16199547|PMID:25741868|PMID:28492532|PMID:31349857|PMID:31883643
8807676	Ppp1r12a	protein phosphatase 1 regulatory subunit 12A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807714	Npffr2	neuropeptide FF receptor 2	gene	DOID:1324	lung cancer		ISO	RGD:733261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8807714	Npffr2	neuropeptide FF receptor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807714	Npffr2	neuropeptide FF receptor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8807722	Tcerg1l	transcription elongation regulator 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346689	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8807722	Tcerg1l	transcription elongation regulator 1 like	gene	DOID:10534	stomach cancer		ISO	RGD:1346689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8807722	Tcerg1l	transcription elongation regulator 1 like	gene	DOID:4362	cervical cancer		ISO	RGD:1346689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8807722	Tcerg1l	transcription elongation regulator 1 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8807722	Tcerg1l	transcription elongation regulator 1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807722	Tcerg1l	transcription elongation regulator 1 like	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1346689	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278247
8807737	Cby1	chibby 1, beta catenin antagonist	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1343969	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	
8807737	Cby1	chibby 1, beta catenin antagonist	gene	DOID:10283	prostate cancer		ISO	RGD:1343969	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8807737	Cby1	chibby 1, beta catenin antagonist	gene	DOID:10283	prostate cancer		ISO	RGD:1343969	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8807737	Cby1	chibby 1, beta catenin antagonist	gene	DOID:10534	stomach cancer		ISO	RGD:1343969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8807737	Cby1	chibby 1, beta catenin antagonist	gene	DOID:10754	otitis media		ISO	RGD:1616726	D	RGD:9068941	20220825	MouseDO		OMIM:166760	
8807737	Cby1	chibby 1, beta catenin antagonist	gene	DOID:3070	high grade glioma		ISO	RGD:1343969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8807737	Cby1	chibby 1, beta catenin antagonist	gene	DOID:5041	esophageal cancer		ISO	RGD:1343969	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8807737	Cby1	chibby 1, beta catenin antagonist	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807737	Cby1	chibby 1, beta catenin antagonist	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8807737	Cby1	chibby 1, beta catenin antagonist	gene	DOID:630	genetic disease		ISO	RGD:1343969	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8807737	Cby1	chibby 1, beta catenin antagonist	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807737	Cby1	chibby 1, beta catenin antagonist	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8807737	Cby1	chibby 1, beta catenin antagonist	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1616726	D	RGD:9068941	20220825	MouseDO			
8807755	Sostdc1	sclerostin domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807755	Sostdc1	sclerostin domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807774	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605646	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34648132
8807774	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:0051064	left ventricular failure		ISO	RGD:1605646	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34648132
8807774	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:0081292	traumatic brain injury		ISO	RGD:1304822	D	RGD:9068941	20230708	RGD		mRNA:decreased expression:cerebral cortex	PMID:31992337|REF_RGD_ID:329901857
8807774	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1605646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8807774	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8807774	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8807774	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807774	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:9000197	Edema		ISO	RGD:1605646	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34648132
8807774	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:1605646	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34648132
8807774	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:9005749	Necrosis		ISO	RGD:1605646	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34648132
8807774	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1605646	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35226250
8807774	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1605646	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35226250
8807774	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8807774	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8807774	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:9538	multiple myeloma		ISO	RGD:1605646	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35038059
8807792	Meikin	meiotic kinetochore factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:9685644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8807792	Meikin	meiotic kinetochore factor	gene	DOID:1115	sarcoma		ISO	RGD:9685644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8807792	Meikin	meiotic kinetochore factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:9685644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807792	Meikin	meiotic kinetochore factor	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:9685644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8807792	Meikin	meiotic kinetochore factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:9685644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0050567	orofacial cleft		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0050581	brachydactyly		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:28492532|PMID:31625145
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:1351349	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy	PMID:12374766|PMID:15525788|PMID:15800189|PMID:16199547|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26297079|PMID:26467025|PMID:26647175|PMID:26900580|PMID:26993267|PMID:27210545|PMID:27659738|PMID:27779742|PMID:27781031|PMID:27864847|PMID:27875746|PMID:27900360|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29100083|PMID:29121005|PMID:29186148|PMID:29432985|PMID:29588952|PMID:29655203|PMID:29720203|PMID:29933521|PMID:30109124|PMID:30171078|PMID:30615093|PMID:30951195|PMID:30968951|PMID:31026061|PMID:31054490|PMID:31618753|PMID:31625145|PMID:32651551|PMID:32920374|PMID:9536098
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:1351349	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy	PMID:12374766|PMID:15525788|PMID:15800189|PMID:16199547|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24352161|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25799905|PMID:25818041|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26252990|PMID:26297079|PMID:26467025|PMID:26544041|PMID:26633542|PMID:26647175|PMID:26677014|PMID:26900580|PMID:26993267|PMID:27165006|PMID:27210545|PMID:27267376|PMID:27375106|PMID:27659738|PMID:27779742|PMID:27781031|PMID:27864847|PMID:27875746|PMID:27900360|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28702509|PMID:28735751|PMID:28923014|PMID:28973083|PMID:29056246|PMID:29100083|PMID:29121005|PMID:29186148|PMID:29263050|PMID:29356177|PMID:29432985|PMID:29588952|PMID:29655203|PMID:29720203|PMID:29852413|PMID:29933521|PMID:30078772|PMID:30109124|PMID:30171078|PMID:30185235|PMID:30314295|PMID:30615093|PMID:30951195|PMID:30968951|PMID:31026061|PMID:31054490|PMID:31069529|PMID:31335965|PMID:31402610|PMID:31487502|PMID:31618753|PMID:31625145|PMID:31675620|PMID:31715021|PMID:31887642|PMID:31904124|PMID:32040247|PMID:32090326|PMID:32651551|PMID:32725632|PMID:32901917|PMID:32916281|PMID:32920374|PMID:33004838|PMID:33201365|PMID:33827760|PMID:33851778|PMID:34120799|PMID:34431999|PMID:34979445|PMID:35188110|PMID:35701389|PMID:9536098
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar Annotator: match by term: Dysmetria	PMID:25741868|PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	PMID:25741868|PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0050952	spastic ataxia		ISO	RGD:1351349	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0060249	scoliosis		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:31780880
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0060260	ptosis		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0060475	myoclonic-atonic epilepsy		ISO	RGD:1351349	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy	PMID:25741868|PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0070309	absence epilepsy		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868|PMID:28492532|PMID:38374194
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0070375	developmental and epileptic encephalopathy 64		ISO	RGD:1351349	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 64	PMID:25741868
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1351349	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:15525788|PMID:15800189|PMID:16199547|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:23020937|PMID:24352161|PMID:24888894|PMID:25046240|PMID:25568300|PMID:25741868|PMID:25785782|PMID:25799905|PMID:25951352|PMID:26029160|PMID:26235739|PMID:26467025|PMID:26647175|PMID:26677014|PMID:26900580|PMID:26993267|PMID:27210545|PMID:27375106|PMID:27779742|PMID:27875746|PMID:28333917|PMID:28387369|PMID:28492532|PMID:28735751|PMID:29574705|PMID:29588952|PMID:29655203|PMID:29930392|PMID:30185235|PMID:30615093|PMID:30851583|PMID:30968951|PMID:31402610|PMID:31440721|PMID:31625145|PMID:31904124|PMID:32040247|PMID:32509551|PMID:32651551|PMID:34395220|PMID:34431999|PMID:38174099|PMID:38233770|PMID:38279250|PMID:38335860|PMID:38845412|PMID:38880818|PMID:39825153
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0080445	developmental and epileptic encephalopathy 13		ISO	RGD:1351349	D	RGD:7240710	20180130	OMIM			
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0080445	developmental and epileptic encephalopathy 13		ISO	RGD:1351349	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 13 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 13	PMID:15525788|PMID:15800189|PMID:17576681|PMID:18414213|PMID:19465131|PMID:20869590|PMID:21864321|PMID:22365152|PMID:23020937|PMID:23708187|PMID:23934111|PMID:24194747|PMID:24352161|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25533962|PMID:25568300|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25799905|PMID:25818041|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235738|PMID:26235739|PMID:26297079|PMID:26467025|PMID:26647175|PMID:26677014|PMID:26900580|PMID:26993267|PMID:27210545|PMID:27375106|PMID:27779742|PMID:27864847|PMID:27875746|PMID:28135719|PMID:28333917|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28735751|PMID:28923014|PMID:28973083|PMID:29100083|PMID:29186148|PMID:29263050|PMID:29432985|PMID:29574705|PMID:29588952|PMID:29655203|PMID:29720203|PMID:29930392|PMID:29933521|PMID:30078772|PMID:30171078|PMID:30185235|PMID:30615093|PMID:30851583|PMID:30951195|PMID:30968951|PMID:31026061|PMID:31031587|PMID:31054490|PMID:31440721|PMID:31675620|PMID:31780880|PMID:31904124|PMID:32040247|PMID:32090326|PMID:32092540|PMID:32509551|PMID:32581362|PMID:32845893|PMID:32901917|PMID:32916281|PMID:33057194|PMID:33083721|PMID:33258288|PMID:34395220|PMID:34431999|PMID:35188110|PMID:35230384|PMID:35492509|PMID:35599849|PMID:35982159|PMID:36563179|PMID:36696443|PMID:36801247|PMID:38174099|PMID:38233770|PMID:38279250|PMID:38335860|PMID:38374194|PMID:38703036|PMID:38845412|PMID:38880818|PMID:39825153|PMID:9536098
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1351349	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1	PMID:25741868
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0081118	benign familial infantile seizures 5		ISO	RGD:1351349	D	RGD:7240710	20190315	OMIM			
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0081118	benign familial infantile seizures 5		ISO	RGD:1351349	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 5	PMID:18414213|PMID:24888894|PMID:25568300|PMID:25666757|PMID:25741868|PMID:25951352|PMID:26029160|PMID:26647175|PMID:26677014|PMID:26900580|PMID:26993267|PMID:27210545|PMID:27779742|PMID:27875746|PMID:28333917|PMID:28387369|PMID:28492532|PMID:29263050|PMID:29432985|PMID:29574705|PMID:29655203|PMID:29930392|PMID:30185235|PMID:30615093|PMID:30851583|PMID:30968951|PMID:31026061|PMID:31675620|PMID:31904124|PMID:32040247|PMID:32509551|PMID:34395220|PMID:34431999|PMID:36198807|PMID:36563179|PMID:38174099|PMID:38233770|PMID:38279250|PMID:38845412|PMID:38880818
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1351349	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fetal akinesia sequence	PMID:25741868|PMID:31680123
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1351349	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:12374766|PMID:15525788|PMID:15800189|PMID:16199547|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24352161|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25799905|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26252990|PMID:26297079|PMID:26467025|PMID:26544041|PMID:26647175|PMID:26677014|PMID:26900580|PMID:26993267|PMID:27210545|PMID:27375106|PMID:27659738|PMID:27779742|PMID:27781031|PMID:27864847|PMID:27875746|PMID:27900360|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29056246|PMID:29100083|PMID:29121005|PMID:29186148|PMID:29263050|PMID:29356177|PMID:29432985|PMID:29588952|PMID:29655203|PMID:29720203|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30171078|PMID:30185235|PMID:30314295|PMID:30615093|PMID:30951195|PMID:30968951|PMID:31026061|PMID:31054490|PMID:31402610|PMID:31487502|PMID:31618753|PMID:31625145|PMID:31887642|PMID:31904124|PMID:32040247|PMID:32651551|PMID:32725632|PMID:32901917|PMID:32916281|PMID:32920374|PMID:33004838|PMID:33201365|PMID:33827760|PMID:33851778|PMID:34431999|PMID:9536098
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1351349	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy	PMID:12374766|PMID:15525788|PMID:15800189|PMID:16199547|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24352161|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25799905|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26252990|PMID:26297079|PMID:26467025|PMID:26544041|PMID:26647175|PMID:26677014|PMID:26900580|PMID:26993267|PMID:27165006|PMID:27210545|PMID:27375106|PMID:27659738|PMID:27779742|PMID:27781031|PMID:27864847|PMID:27875746|PMID:27900360|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29056246|PMID:29100083|PMID:29121005|PMID:29186148|PMID:29263050|PMID:29356177|PMID:29432985|PMID:29588952|PMID:29655203|PMID:29720203|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30171078|PMID:30185235|PMID:30314295|PMID:30615093|PMID:30951195|PMID:30968951|PMID:31026061|PMID:31054490|PMID:31069529|PMID:31402610|PMID:31487502|PMID:31618753|PMID:31625145|PMID:31675620|PMID:31887642|PMID:31904124|PMID:32040247|PMID:32651551|PMID:32725632|PMID:32901917|PMID:32916281|PMID:32920374|PMID:33004838|PMID:33201365|PMID:33827760|PMID:33851778|PMID:34120799|PMID:34431999|PMID:35701389|PMID:9536098
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1351349	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:12374766|PMID:15525788|PMID:15800189|PMID:16199547|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24352161|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25799905|PMID:25818041|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26252990|PMID:26297079|PMID:26467025|PMID:26544041|PMID:26633542|PMID:26647175|PMID:26677014|PMID:26900580|PMID:26993267|PMID:27165006|PMID:27210545|PMID:27267376|PMID:27375106|PMID:27659738|PMID:27779742|PMID:27781031|PMID:27864847|PMID:27875746|PMID:27900360|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28702509|PMID:28735751|PMID:28923014|PMID:28973083|PMID:29056246|PMID:29100083|PMID:29121005|PMID:29186148|PMID:29263050|PMID:29356177|PMID:29432985|PMID:29588952|PMID:29655203|PMID:29720203|PMID:29852413|PMID:29933521|PMID:30078772|PMID:30109124|PMID:30171078|PMID:30185235|PMID:30314295|PMID:30615093|PMID:30951195|PMID:30968951|PMID:31026061|PMID:31054490|PMID:31069529|PMID:31335965|PMID:31402610|PMID:31487502|PMID:31618753|PMID:31625145|PMID:31675620|PMID:31715021|PMID:31887642|PMID:31904124|PMID:32040247|PMID:32090326|PMID:32651551|PMID:32725632|PMID:32901917|PMID:32916281|PMID:32920374|PMID:33004838|PMID:33013363|PMID:33201365|PMID:33827760|PMID:33851778|PMID:34120799|PMID:34431999|PMID:34979445|PMID:35188110|PMID:35701389|PMID:9536098
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1351349	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:16199547|PMID:19254928|PMID:25741868|PMID:27875746|PMID:28492532|PMID:31487502|PMID:32651551
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:10534	stomach cancer		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:1059	intellectual disability		ISO	RGD:1351349	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:1059	intellectual disability		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:23708187|PMID:25741868|PMID:28492532|PMID:31625145|PMID:31780880
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:10754	otitis media		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Otitis media	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:10907	microcephaly		ISO	RGD:1351349	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:31625145|PMID:31780880
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:10908	hydrocephalus		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:1115	sarcoma		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:11832	visual epilepsy		ISO	RGD:1351349	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26993267|PMID:28492532|PMID:29432985|PMID:31625145|PMID:32581362
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:12365	malaria		ISO	RGD:1351349	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Malaria, susceptibility to	PMID:25741868
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:12568	dyscalculia		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyscalculia	PMID:23708187|PMID:25741868|PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:12849	autistic disorder		ISO	RGD:1351349	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:29655203
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:12895	keratoconjunctivitis sicca		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Keratoconjunctivitis sicca	PMID:25741868|PMID:31780880
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:1596	depressive disorder		ISO	RGD:1351349	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:27875746|PMID:28492532|PMID:31487502
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:1682	congenital heart disease		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:1824	status epilepticus		ISO	RGD:1351349	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19306853
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:1826	epilepsy		ISO	RGD:1351349	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:26677014|PMID:26993267|PMID:27864847|PMID:28492532|PMID:28923014|PMID:29432985|PMID:30171078|PMID:30615093|PMID:31625145
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:1826	epilepsy		ISO	RGD:1351349	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:18414213|PMID:24888894|PMID:25741868|PMID:26677014|PMID:26993267|PMID:27210545|PMID:27864847|PMID:27875746|PMID:28492532|PMID:28923014|PMID:29432985|PMID:30171078|PMID:30185235|PMID:30615093|PMID:31402610|PMID:31625145|PMID:32581362|PMID:34431999
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:1826	epilepsy		ISO	RGD:1351349	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizure	PMID:18414213|PMID:23708187|PMID:24888894|PMID:25666757|PMID:25741868|PMID:26677014|PMID:26993267|PMID:27210545|PMID:27875746|PMID:28492532|PMID:29432985|PMID:30171078|PMID:30185235|PMID:30615093|PMID:30851583|PMID:31440721|PMID:31487502|PMID:31625145|PMID:31780880|PMID:31904124|PMID:32040247|PMID:34431999|PMID:36563179|PMID:38174099|PMID:38233770|PMID:38279250|PMID:38335860|PMID:38703036|PMID:38845412|PMID:38880818|PMID:39825153
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:1827	generalized epilepsy		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:24888894|PMID:25568300|PMID:25741868|PMID:27864847|PMID:28492532|PMID:28923014|PMID:30171078|PMID:30615093|PMID:31402610|PMID:32581362|PMID:33258288
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:1827	generalized epilepsy		ISO	RGD:1351349	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:24888894|PMID:25568300|PMID:25741868|PMID:26677014|PMID:28492532|PMID:30185235|PMID:30615093|PMID:32581362|PMID:38233770|PMID:38845412
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:1891	optic nerve disease		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:1909	melanoma		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:2030	anxiety disorder		ISO	RGD:1351349	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:27875746|PMID:28492532|PMID:31487502
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:2234	focal epilepsy		ISO	RGD:1351349	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure | ClinVar Annotator: match by term: partial epilepsy	PMID:18414213|PMID:25741868|PMID:26677014|PMID:27210545|PMID:27875746|PMID:28492532|PMID:30185235|PMID:30615093|PMID:30851583|PMID:32040247|PMID:34431999|PMID:38174099|PMID:38233770|PMID:38279250|PMID:38845412|PMID:38880818
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868|PMID:27875746|PMID:28492532|PMID:31487502
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:2786	cerebellar disease		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cerebellar syndrome	PMID:25741868
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1351349	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Focal clonic seizure	PMID:25741868
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:4362	cervical cancer		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1351349	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:535	sleep disorder		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disorder | ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:31780880
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:6000	congestive heart failure		ISO	RGD:3638	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ventricle myocardium	PMID:19584134|REF_RGD_ID:6484224
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:630	genetic disease		ISO	RGD:1351349	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10798388|PMID:15525788|PMID:15800189|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24888894|PMID:25046240|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26467025|PMID:26680202|PMID:26900580|PMID:27875746|PMID:28492532|PMID:28702509|PMID:28735751|PMID:29588952|PMID:29852413|PMID:29924869|PMID:29933521|PMID:30171078|PMID:30968951|PMID:31031587|PMID:31054490|PMID:31069529|PMID:31335965|PMID:31440721|PMID:31887642|PMID:31904124|PMID:32040247|PMID:32090326|PMID:32651551|PMID:33004838|PMID:33083721|PMID:34145886|PMID:34431999|PMID:34979445|PMID:38279250|PMID:38311555|PMID:38335860|PMID:39825153|PMID:9536098
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:681	progressive bulbar palsy		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bulbar palsy	PMID:27900360|PMID:28492532|PMID:30109124|PMID:4431999
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:863	nervous system disease		ISO	RGD:1351349	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15170223
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:8927	learning disability		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:23708187|PMID:25741868|PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9000053	Headache		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9000495	Tremor		ISO	RGD:1351349	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:15525788|PMID:15800189|PMID:19465131|PMID:20869590|PMID:23020937|PMID:24888894|PMID:25046240|PMID:25568300|PMID:25741868|PMID:25785782|PMID:26029160|PMID:26235739|PMID:26900580|PMID:28492532|PMID:28735751|PMID:29588952
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9001510	Funnel Chest		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9001722	Dysarthria		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9001745	Fasciculation		ISO	RGD:1351349	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fasciculations	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1351349	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:27875746|PMID:28492532|PMID:31487502
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9002512	Postherpetic Neuralgia		ISO	RGD:1351349	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23382806
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9002569	Overweight		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:25741868|PMID:28492532|PMID:31625145
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	PMID:25741868|PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:27875746|PMID:28492532|PMID:31487502
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9002834	Herpesviridae Infections		ISO	RGD:1351349	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23382806
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9003126	Hallucinations		ISO	RGD:1351349	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:25741868|PMID:27875746|PMID:28492532|PMID:31487502
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9003132	Sialorrhea		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868|PMID:31780880
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9003286	Diplopia		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diplopia	PMID:25741868|PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9003507	Premature Birth		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9003539	Hyperacusis		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9003816	Macrocephaly		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9003930	Familial Myoclonus 2		ISO	RGD:1351349	D	RGD:7240710	20190501	OMIM			
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9003930	Familial Myoclonus 2		ISO	RGD:1351349	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Myoclonus, familial, 2	PMID:24888894|PMID:25568300|PMID:25741868|PMID:25951352|PMID:26029160|PMID:26647175|PMID:26900580|PMID:27779742|PMID:28333917|PMID:28387369|PMID:28492532|PMID:29574705|PMID:29655203|PMID:29930392|PMID:30968951|PMID:32509551|PMID:34395220
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1351349	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532|PMID:34431999
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9004866	Ataxia		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Dyssynergia	PMID:25741868|PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:27875746|PMID:28492532|PMID:31487502|PMID:31780880
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532|PMID:31440721|PMID:31904124|PMID:34431999|PMID:38335860|PMID:39825153
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25741868|PMID:31780880
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:1351349	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Sudden infant death syndrome	PMID:25741868|PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1351349	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868|PMID:27875746|PMID:28492532|PMID:31487502
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9007661	Dwarfism		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9007722	Myoclonus		ISO	RGD:1351349	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868|PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9007736	Vertigo		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9007956	Febrile Seizures		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Simple febrile seizure	PMID:23708187|PMID:25741868|PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9008023	Memory Disorders		ISO	RGD:1351349	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:27875746|PMID:28492532|PMID:31487502
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351349	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23708187|PMID:25741868|PMID:28492532|PMID:31625145|PMID:38703036
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9008255	Cognitive Impairment with or Without Cerebellar Ataxia		ISO	RGD:1351349	D	RGD:7240710	20180130	OMIM			
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9008255	Cognitive Impairment with or Without Cerebellar Ataxia		ISO	RGD:1351349	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA | ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia | ClinVar Annotator: match by term: cognitive impairment with or without cerebellar ataxia	PMID:16199547|PMID:19254928|PMID:23708187|PMID:24888894|PMID:25568300|PMID:25741868|PMID:25785782|PMID:25951352|PMID:26029160|PMID:26647175|PMID:26900580|PMID:27270488|PMID:27659738|PMID:27779742|PMID:28333917|PMID:28387369|PMID:28492532|PMID:28702509|PMID:29574705|PMID:29655203|PMID:29930392|PMID:29933521|PMID:30171078|PMID:30868116|PMID:30968951|PMID:31402610|PMID:31440721|PMID:31618753|PMID:31780880|PMID:31904118|PMID:31904124|PMID:32509551|PMID:32651551|PMID:33057194|PMID:33851778|PMID:34395220|PMID:34431999|PMID:35701389|PMID:38335860|PMID:39556335|PMID:39825153
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9008582	Developmental Disease		ISO	RGD:1351349	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: developmental disorder	PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:930	orbital disease		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:936	brain disease		ISO	RGD:1351349	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:28492532|PMID:31780880
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:963	episodic ataxia		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary episodic ataxia	PMID:25741868|PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9834	hyperopia		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
8807813	Scn8a	sodium voltage-gated channel alpha subunit 8	gene	DOID:9970	obesity		ISO	RGD:1351349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:23708187|PMID:25741868|PMID:28492532
8807864	Nsg1	neuronal vesicle trafficking associated 1	gene	DOID:3275	thymoma		ISO	RGD:737576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8807902	Marchf7	membrane associated ring-CH-type finger 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8807902	Marchf7	membrane associated ring-CH-type finger 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8807902	Marchf7	membrane associated ring-CH-type finger 7	gene	DOID:10534	stomach cancer		ISO	RGD:1603971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8807902	Marchf7	membrane associated ring-CH-type finger 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8807902	Marchf7	membrane associated ring-CH-type finger 7	gene	DOID:1115	sarcoma		ISO	RGD:1603971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8807902	Marchf7	membrane associated ring-CH-type finger 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603971	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8807902	Marchf7	membrane associated ring-CH-type finger 7	gene	DOID:4362	cervical cancer		ISO	RGD:1603971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8807902	Marchf7	membrane associated ring-CH-type finger 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8807902	Marchf7	membrane associated ring-CH-type finger 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807902	Marchf7	membrane associated ring-CH-type finger 7	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1603971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8807902	Marchf7	membrane associated ring-CH-type finger 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8807935	Mafa	MAF bZIP transcription factor A	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:1557163	D	RGD:9068941	20220825	MouseDO		OMIM:606391	
8807935	Mafa	MAF bZIP transcription factor A	gene	DOID:9004540	Islet Cell Adenomatosis		ISO	RGD:1604438	D	RGD:7240710	20200304	OMIM			
8807935	Mafa	MAF bZIP transcription factor A	gene	DOID:9004540	Islet Cell Adenomatosis		ISO	RGD:1604438	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Islet cell adenomatosis	PMID:25741868|PMID:29339498|PMID:35406570
8807935	Mafa	MAF bZIP transcription factor A	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:1557163	D	RGD:9068941	20200609	RGD			PMID:28487936|REF_RGD_ID:13506743
8807935	Mafa	MAF bZIP transcription factor A	gene	DOID:9351	diabetes mellitus	treatment	ISO	RGD:1562627	D	RGD:9068941	20200609	RGD			PMID:23801580|REF_RGD_ID:13506744
8807935	Mafa	MAF bZIP transcription factor A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1557163	D	RGD:9068941	20200609	RGD		protein:decreased expression:beta cells of pancrea	PMID:20424231|REF_RGD_ID:13506745
8807935	Mafa	MAF bZIP transcription factor A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1557163	D	RGD:9068941	20220825	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
8807935	Mafa	MAF bZIP transcription factor A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1562627	D	RGD:9068941	20250820	RGD		associated with ZDF-Leprfa/Crl strain; mRNA:altered expression:pancreatic islet	PMID:16772326|REF_RGD_ID:1599258
8807935	Mafa	MAF bZIP transcription factor A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1604438	D	RGD:9068941	20200609	RGD		protein:decreased expression:islet:	PMID:24013263|REF_RGD_ID:13506742
8807940	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8807940	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8807940	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:0060058	lymphoma		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8807940	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8807940	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8807940	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8807940	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:1909	melanoma		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8807940	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8807940	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807940	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8807940	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8807940	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8807977	Lamp3	lysosome associated membrane protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8807977	Lamp3	lysosome associated membrane protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1317407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8807977	Lamp3	lysosome associated membrane protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8807977	Lamp3	lysosome associated membrane protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8807977	Lamp3	lysosome associated membrane protein 3	gene	DOID:9001488	Human Influenza		ISO	RGD:1317407	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
8807977	Lamp3	lysosome associated membrane protein 3	gene	DOID:9001510	Funnel Chest		ISO	RGD:1317407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
8807977	Lamp3	lysosome associated membrane protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8808000	Lrrc8d	leucine rich repeat containing 8 VRAC subunit D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808000	Lrrc8d	leucine rich repeat containing 8 VRAC subunit D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8808000	Lrrc8d	leucine rich repeat containing 8 VRAC subunit D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808010	Prss50	serine protease 50	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8808010	Prss50	serine protease 50	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808010	Prss50	serine protease 50	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8808022	Gfus	GDP-L-fucose synthase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8808022	Gfus	GDP-L-fucose synthase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808022	Gfus	GDP-L-fucose synthase	gene	DOID:10534	stomach cancer		ISO	RGD:1315979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8808022	Gfus	GDP-L-fucose synthase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8808022	Gfus	GDP-L-fucose synthase	gene	DOID:1324	lung cancer		ISO	RGD:1315979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8808022	Gfus	GDP-L-fucose synthase	gene	DOID:1909	melanoma		ISO	RGD:1315979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8808022	Gfus	GDP-L-fucose synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808022	Gfus	GDP-L-fucose synthase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8808022	Gfus	GDP-L-fucose synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8808046	Akr7a2	aldo-keto reductase family 7 member A2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808046	Akr7a2	aldo-keto reductase family 7 member A2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:732683	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8808046	Akr7a2	aldo-keto reductase family 7 member A2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732683	D	RGD:9068941	20200609	RGD		protein:increased expression:superior,  middle temporal gyrus;	PMID:11597610|REF_RGD_ID:14349051
8808046	Akr7a2	aldo-keto reductase family 7 member A2	gene	DOID:1115	sarcoma		ISO	RGD:732683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8808046	Akr7a2	aldo-keto reductase family 7 member A2	gene	DOID:3498	pancreatic ductal adenocarcinoma		ISO	RGD:732683	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:19077459|REF_RGD_ID:2325696
8808046	Akr7a2	aldo-keto reductase family 7 member A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808046	Akr7a2	aldo-keto reductase family 7 member A2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8808046	Akr7a2	aldo-keto reductase family 7 member A2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8808046	Akr7a2	aldo-keto reductase family 7 member A2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8808056	Ankrd13b	ankyrin repeat domain 13B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808056	Ankrd13b	ankyrin repeat domain 13B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8808056	Ankrd13b	ankyrin repeat domain 13B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808056	Ankrd13b	ankyrin repeat domain 13B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8808056	Ankrd13b	ankyrin repeat domain 13B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8808056	Ankrd13b	ankyrin repeat domain 13B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8808078	Rdh12	retinol dehydrogenase 12	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1321376	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cone-rod degeneration	PMID:15258582|PMID:16269441|PMID:20006610|PMID:22065924|PMID:24474277|PMID:25741868|PMID:27032803|PMID:28492532|PMID:32014858
8808078	Rdh12	retinol dehydrogenase 12	gene	DOID:0110330	Leber congenital amaurosis 13		ISO	RGD:1321376	D	RGD:7240710	20180130	OMIM			
8808078	Rdh12	retinol dehydrogenase 12	gene	DOID:0110330	Leber congenital amaurosis 13		ISO	RGD:1321376	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis 13	PMID:17964524|PMID:22065924|PMID:25910913|PMID:28492532|PMID:29178642|PMID:30372751
8808078	Rdh12	retinol dehydrogenase 12	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321376	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:31054281|PMID:32014858
8808078	Rdh12	retinol dehydrogenase 12	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321376	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30718709|PMID:30979730|PMID:31054281|PMID:32014858
8808078	Rdh12	retinol dehydrogenase 12	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321376	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047
8808078	Rdh12	retinol dehydrogenase 12	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321376	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047
8808078	Rdh12	retinol dehydrogenase 12	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321376	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32322264|PMID:32790509|PMID:34001834|PMID:34448047|PMID:35006499|PMID:36460718|PMID:36909829
8808078	Rdh12	retinol dehydrogenase 12	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321376	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32322264|PMID:32790509|PMID:34001834|PMID:34448047|PMID:35006499|PMID:36460718|PMID:36909829|PMID:37714431|PMID:38184646
8808078	Rdh12	retinol dehydrogenase 12	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321376	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:22995991|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25525159|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27596865|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31589614|PMID:31814694|PMID:31964843|PMID:32014858|PMID:32036094|PMID:32141364|PMID:32322264|PMID:32531858|PMID:32790509|PMID:32865313|PMID:33921607|PMID:34001834|PMID:34426522|PMID:34448047|PMID:35006499|PMID:36460718|PMID:36819107|PMID:36909829|PMID:37217489|PMID:37714431|PMID:38184646
8808078	Rdh12	retinol dehydrogenase 12	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321376	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:20736127|PMID:22065924|PMID:22995991|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25525159|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27596865|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:31054281|PMID:31456290|PMID:31589614|PMID:31814694|PMID:31964843|PMID:32014858|PMID:32036094|PMID:32141364|PMID:32322264|PMID:32531858|PMID:32865313|PMID:33921607|PMID:34426522|PMID:34448047|PMID:35006499|PMID:36460718|PMID:36819107|PMID:37217489|PMID:37714431|PMID:38184646
8808078	Rdh12	retinol dehydrogenase 12	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1321376	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17964524|PMID:19011012|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30979730|PMID:31814694|PMID:32014858|PMID:32865313|PMID:34448047
8808078	Rdh12	retinol dehydrogenase 12	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1321376	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis	PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:27032803|PMID:27208204|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31814694|PMID:32014858|PMID:32141364|PMID:32790509|PMID:32865313|PMID:34001834|PMID:34448047|PMID:9536098
8808078	Rdh12	retinol dehydrogenase 12	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1321376	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis	PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31814694|PMID:32014858|PMID:32141364|PMID:32790509|PMID:32865313|PMID:33090715|PMID:33576794|PMID:33970760|PMID:34001834|PMID:34448047|PMID:35006499|PMID:35119454|PMID:35994252|PMID:36690427|PMID:36909829|PMID:9536098
8808078	Rdh12	retinol dehydrogenase 12	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1321376	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease	PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31814694|PMID:32014858|PMID:32037395|PMID:32141364|PMID:32790509|PMID:32865313|PMID:33090715|PMID:33576794|PMID:33970760|PMID:34001834|PMID:34448047|PMID:35006499|PMID:35119454|PMID:35994252|PMID:36690427|PMID:36909829|PMID:9536098
8808078	Rdh12	retinol dehydrogenase 12	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1321376	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31801355|PMID:31814694|PMID:31816670|PMID:32014858|PMID:32037395|PMID:32141364|PMID:32790509|PMID:32865313|PMID:33090715|PMID:33576794|PMID:33970760|PMID:34001834|PMID:34448047|PMID:35006499|PMID:35119454|PMID:35994252|PMID:36284670|PMID:36690427|PMID:36909829|PMID:9536098
8808078	Rdh12	retinol dehydrogenase 12	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1321376	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30029497|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31801355|PMID:31814694|PMID:31816670|PMID:32014858|PMID:32037395|PMID:32141364|PMID:32790509|PMID:32865313|PMID:33090715|PMID:33576794|PMID:33970760|PMID:34001834|PMID:34448047|PMID:35006499|PMID:35119454|PMID:35672425|PMID:35994252|PMID:36284670|PMID:36690427|PMID:36909829|PMID:37217489|PMID:37714431|PMID:38219857|PMID:9536098
8808078	Rdh12	retinol dehydrogenase 12	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1321376	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis	PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:21217109|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30029497|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31801355|PMID:31814694|PMID:31816670|PMID:32014858|PMID:32037395|PMID:32141364|PMID:32790509|PMID:32865313|PMID:33090715|PMID:33576794|PMID:33970760|PMID:34001834|PMID:34448047|PMID:35006499|PMID:35119454|PMID:35672425|PMID:35994252|PMID:36011402|PMID:36284670|PMID:36690427|PMID:36909829|PMID:37217489|PMID:37714431|PMID:38219857|PMID:9536098
8808078	Rdh12	retinol dehydrogenase 12	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1321376	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:21217109|PMID:22065924|PMID:22995991|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24123792|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26868535|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27596865|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29068479|PMID:29178642|PMID:29186038|PMID:30029497|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30870047|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31345219|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31801355|PMID:31814694|PMID:31816670|PMID:31964843|PMID:32014858|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32531858|PMID:32790509|PMID:32865313|PMID:33090715|PMID:33576794|PMID:33608557|PMID:33970760|PMID:34001834|PMID:34315337|PMID:34448047|PMID:35006499|PMID:35119454|PMID:35672425|PMID:35775617|PMID:35994252|PMID:36011402|PMID:36284670|PMID:36460718|PMID:36690427|PMID:36819107|PMID:36909829|PMID:37217489|PMID:37714431|PMID:38219857|PMID:9536098
8808078	Rdh12	retinol dehydrogenase 12	gene	DOID:705	Leber hereditary optic neuropathy		ISO	RGD:1321376	D	RGD:9068941	20200609	RGD			PMID:15322982|REF_RGD_ID:1599415
8808078	Rdh12	retinol dehydrogenase 12	gene	DOID:8466	retinal degeneration		ISO	RGD:1321376	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16269441
8808078	Rdh12	retinol dehydrogenase 12	gene	DOID:8501	fundus dystrophy		ISO	RGD:1321376	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:18048336
8808089	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8808089	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:0060058	lymphoma		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8808089	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8808089	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8808089	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8808089	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1307284	D	RGD:9068941	20200609	RGD			PMID:27798271|REF_RGD_ID:14398833
8808089	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8808089	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8808089	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8808089	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349205	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8808089	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1349205	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8808089	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808089	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8808089	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8808089	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8808089	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8808127	Atoh1	atonal bHLH transcription factor 1	gene	DOID:0050564	autosomal dominant nonsyndromic deafness		ISO	RGD:1349240	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss	PMID:25741868
8808127	Atoh1	atonal bHLH transcription factor 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1349240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:25741868
8808127	Atoh1	atonal bHLH transcription factor 1	gene	DOID:0050902	medulloblastoma		ISO	RGD:1349240	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18347096
8808127	Atoh1	atonal bHLH transcription factor 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1349240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	PMID:25741868
8808127	Atoh1	atonal bHLH transcription factor 1	gene	DOID:0070612	autosomal dominant nonsyndromic deafness 89		ISO	RGD:1349240	D	RGD:7240710	20230505	OMIM			
8808127	Atoh1	atonal bHLH transcription factor 1	gene	DOID:0070612	autosomal dominant nonsyndromic deafness 89		ISO	RGD:1349240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ATOH1-related condition	
8808127	Atoh1	atonal bHLH transcription factor 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1349240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital sensorineural hearing impairment	PMID:25741868
8808127	Atoh1	atonal bHLH transcription factor 1	gene	DOID:10376	amblyopia		ISO	RGD:1349240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868
8808127	Atoh1	atonal bHLH transcription factor 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1349240	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hearing loss	PMID:25741868
8808127	Atoh1	atonal bHLH transcription factor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349240	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8808130	Tmem63c	transmembrane protein 63C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808130	Tmem63c	transmembrane protein 63C	gene	DOID:0070456	hereditary spastic paraplegia 87		ISO	RGD:1320973	D	RGD:7240710	20220810	OMIM			
8808130	Tmem63c	transmembrane protein 63C	gene	DOID:0070456	hereditary spastic paraplegia 87		ISO	RGD:1320973	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 87, autosomal recessive	PMID:25741868
8808130	Tmem63c	transmembrane protein 63C	gene	DOID:10534	stomach cancer		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8808130	Tmem63c	transmembrane protein 63C	gene	DOID:1059	intellectual disability		ISO	RGD:1320973	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	
8808130	Tmem63c	transmembrane protein 63C	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1320973	D	RGD:9068941	20210820	RGD		protein:decreased expression:kidney,renal glomerulus (human)	PMID:30900988|REF_RGD_ID:15023481
8808130	Tmem63c	transmembrane protein 63C	gene	DOID:1324	lung cancer		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8808130	Tmem63c	transmembrane protein 63C	gene	DOID:3070	high grade glioma		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8808130	Tmem63c	transmembrane protein 63C	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8808130	Tmem63c	transmembrane protein 63C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808130	Tmem63c	transmembrane protein 63C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8808130	Tmem63c	transmembrane protein 63C	gene	DOID:9001542	Albuminuria		ISO	RGD:1310207	D	RGD:9068941	20210820	RGD		mRNA:increased expression:kidney,renal glomerulus (rat)	PMID:30900988|REF_RGD_ID:15023481
8808130	Tmem63c	transmembrane protein 63C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8808130	Tmem63c	transmembrane protein 63C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8808130	Tmem63c	transmembrane protein 63C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8808130	Tmem63c	transmembrane protein 63C	gene	DOID:9256	colorectal cancer		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8808181	Znf407	zinc finger protein 407	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8808181	Znf407	zinc finger protein 407	gene	DOID:1115	sarcoma		ISO	RGD:1344883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8808181	Znf407	zinc finger protein 407	gene	DOID:1324	lung cancer		ISO	RGD:1344883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8808181	Znf407	zinc finger protein 407	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8808181	Znf407	zinc finger protein 407	gene	DOID:4362	cervical cancer		ISO	RGD:1344883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8808181	Znf407	zinc finger protein 407	gene	DOID:5041	esophageal cancer		ISO	RGD:1344883	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8808181	Znf407	zinc finger protein 407	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8808181	Znf407	zinc finger protein 407	gene	DOID:9000997	Tsukahara Syndrome		ISO	RGD:1344883	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Radioulnar synostosis-microcephaly-scoliosis syndrome	PMID:25741868
8808181	Znf407	zinc finger protein 407	gene	DOID:9003499	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES		ISO	RGD:1344883	D	RGD:7240710	20211215	OMIM			
8808181	Znf407	zinc finger protein 407	gene	DOID:9003499	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES		ISO	RGD:1344883	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES | ClinVar Annotator: match by term: Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | ClinVar Annotator: match by term: ZNF407-related condition	PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654
8808181	Znf407	zinc finger protein 407	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8808181	Znf407	zinc finger protein 407	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CEBPA-related disorder	
8808194	Ate1	arginyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808194	Ate1	arginyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1319626	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8808194	Ate1	arginyltransferase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8808194	Ate1	arginyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8808194	Ate1	arginyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319626	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8808194	Ate1	arginyltransferase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8808194	Ate1	arginyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808194	Ate1	arginyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8808194	Ate1	arginyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8808194	Ate1	arginyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8808218	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808218	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1318591	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868
8808218	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1318591	D	RGD:7240710	20210922	OMIM			
8808218	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1318591	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 57 | ClinVar Annotator: match by term: Spermatogenic failure 57	PMID:25741868|PMID:34347949
8808218	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:12336	male infertility		ISO	RGD:1318591	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Male infertility	
8808218	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:1909	melanoma		ISO	RGD:1318591	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
8808218	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8808218	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318591	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8808218	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808218	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8808218	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8808218	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8808246	Snrpb	small nuclear ribonucleoprotein polypeptides B and B1	gene	DOID:0111248	cerebrocostomandibular syndrome		ISO	RGD:733493	D	RGD:7240710	20180130	OMIM			
8808246	Snrpb	small nuclear ribonucleoprotein polypeptides B and B1	gene	DOID:0111248	cerebrocostomandibular syndrome		ISO	RGD:733493	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CEREBROCOSTOMANDIBULAR SYNDROME | ClinVar Annotator: match by term: Cerebro-costo-mandibular syndrome | ClinVar Annotator: match by term: SNRPB-related condition	PMID:25047197|PMID:25504470|PMID:25741868|PMID:26971886|PMID:28492532
8808246	Snrpb	small nuclear ribonucleoprotein polypeptides B and B1	gene	DOID:10534	stomach cancer		ISO	RGD:733493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8808246	Snrpb	small nuclear ribonucleoprotein polypeptides B and B1	gene	DOID:3492	mixed connective tissue disease		ISO	RGD:733493	D	RGD:9068941	20200609	RGD			PMID:2968364|REF_RGD_ID:10448928
8808246	Snrpb	small nuclear ribonucleoprotein polypeptides B and B1	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:733493	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (human)	PMID:22876301|REF_RGD_ID:10768834
8808246	Snrpb	small nuclear ribonucleoprotein polypeptides B and B1	gene	DOID:4258	Weissenbacher-Zweymuller syndrome		ISO	RGD:733493	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pierre Robin sequence	
8808246	Snrpb	small nuclear ribonucleoprotein polypeptides B and B1	gene	DOID:5041	esophageal cancer		ISO	RGD:733493	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8808246	Snrpb	small nuclear ribonucleoprotein polypeptides B and B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808246	Snrpb	small nuclear ribonucleoprotein polypeptides B and B1	gene	DOID:630	genetic disease		ISO	RGD:733493	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8808246	Snrpb	small nuclear ribonucleoprotein polypeptides B and B1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:733493	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8808246	Snrpb	small nuclear ribonucleoprotein polypeptides B and B1	gene	DOID:9000918	Disease Progression		ISO	RGD:733493	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8808246	Snrpb	small nuclear ribonucleoprotein polypeptides B and B1	gene	DOID:9005616	Micrognathism		ISO	RGD:733493	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25047197|PMID:25504470|PMID:25741868|PMID:26971886
8808246	Snrpb	small nuclear ribonucleoprotein polypeptides B and B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8808246	Snrpb	small nuclear ribonucleoprotein polypeptides B and B1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8808283	Plcb2	phospholipase C beta 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808283	Plcb2	phospholipase C beta 2	gene	DOID:10534	stomach cancer		ISO	RGD:732409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8808283	Plcb2	phospholipase C beta 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8808283	Plcb2	phospholipase C beta 2	gene	DOID:13501	Moebius syndrome		ISO	RGD:732409	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum	
8808283	Plcb2	phospholipase C beta 2	gene	DOID:1588	thrombocytopenia		ISO	RGD:732409	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
8808283	Plcb2	phospholipase C beta 2	gene	DOID:1909	melanoma		ISO	RGD:732409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8808283	Plcb2	phospholipase C beta 2	gene	DOID:3275	thymoma		ISO	RGD:732409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8808283	Plcb2	phospholipase C beta 2	gene	DOID:4362	cervical cancer		ISO	RGD:732409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8808283	Plcb2	phospholipase C beta 2	gene	DOID:5041	esophageal cancer		ISO	RGD:732409	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8808283	Plcb2	phospholipase C beta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808283	Plcb2	phospholipase C beta 2	gene	DOID:6039	uveal melanoma		ISO	RGD:732409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8808283	Plcb2	phospholipase C beta 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8808283	Plcb2	phospholipase C beta 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8808283	Plcb2	phospholipase C beta 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8808283	Plcb2	phospholipase C beta 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8808324	Mfhas1	multifunctional ROCO family signaling regulator 1	gene	DOID:1907	malignant fibrous histiocytoma		ISO	RGD:1318798	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: MFHAS1-related condition	PMID:25741868|PMID:28492532
8808324	Mfhas1	multifunctional ROCO family signaling regulator 1	gene	DOID:2661	myoepithelioma		ISO	RGD:1318798	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8808324	Mfhas1	multifunctional ROCO family signaling regulator 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8808324	Mfhas1	multifunctional ROCO family signaling regulator 1	gene	DOID:4415	fibrous histiocytoma		ISO	RGD:1318798	D	RGD:9068941	20200609	RGD			PMID:9973190|REF_RGD_ID:1599928
8808324	Mfhas1	multifunctional ROCO family signaling regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808324	Mfhas1	multifunctional ROCO family signaling regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8808324	Mfhas1	multifunctional ROCO family signaling regulator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8808324	Mfhas1	multifunctional ROCO family signaling regulator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:0080600	COVID-19		ISO	RGD:1349848	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:antibody secreting B cells (human)	PMID:32377375|REF_RGD_ID:32716422
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:1059	intellectual disability		ISO	RGD:1349848	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: intellectual disability	PMID:25741868
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:1115	sarcoma		ISO	RGD:1349848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:1324	lung cancer		ISO	RGD:1349848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:1909	melanoma		ISO	RGD:1349848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1349848	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25783786
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:3307	teratoma		ISO	RGD:1349848	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349848	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1349848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:35511136
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1349848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1349848	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Pulmonary artery atresia	
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1349848	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8808359	Pabpc1	poly(A) binding protein cytoplasmic 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8808397	Klhl29	kelch like family member 29	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8808425	Eif4g2	eukaryotic translation initiation factor 4 gamma 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808425	Eif4g2	eukaryotic translation initiation factor 4 gamma 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8808425	Eif4g2	eukaryotic translation initiation factor 4 gamma 2	gene	DOID:10763	hypertension		ISO	RGD:1305294	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart left ventricle	PMID:12708758|REF_RGD_ID:10755511
8808425	Eif4g2	eukaryotic translation initiation factor 4 gamma 2	gene	DOID:1591	renovascular hypertension		ISO	RGD:1305294	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart left ventricle	PMID:12708758|REF_RGD_ID:10755511
8808425	Eif4g2	eukaryotic translation initiation factor 4 gamma 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8808425	Eif4g2	eukaryotic translation initiation factor 4 gamma 2	gene	DOID:3275	thymoma		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8808425	Eif4g2	eukaryotic translation initiation factor 4 gamma 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8808425	Eif4g2	eukaryotic translation initiation factor 4 gamma 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8808425	Eif4g2	eukaryotic translation initiation factor 4 gamma 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8808425	Eif4g2	eukaryotic translation initiation factor 4 gamma 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313238	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8808425	Eif4g2	eukaryotic translation initiation factor 4 gamma 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8808425	Eif4g2	eukaryotic translation initiation factor 4 gamma 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808425	Eif4g2	eukaryotic translation initiation factor 4 gamma 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8808425	Eif4g2	eukaryotic translation initiation factor 4 gamma 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8808425	Eif4g2	eukaryotic translation initiation factor 4 gamma 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8808425	Eif4g2	eukaryotic translation initiation factor 4 gamma 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8808425	Eif4g2	eukaryotic translation initiation factor 4 gamma 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8808425	Eif4g2	eukaryotic translation initiation factor 4 gamma 2	gene	DOID:916	liver benign neoplasm		ISO	RGD:1313239	D	RGD:9068941	20200609	RGD			PMID:9633945|REF_RGD_ID:10755510
8808451	Mrps16	mitochondrial ribosomal protein S16	gene	DOID:0111483	combined oxidative phosphorylation deficiency 2		ISO	RGD:1321233	D	RGD:7240710	20180130	OMIM			
8808458	Dhx9	DExH-box helicase 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:0061048	autosomal dominant intellectual developmental disorder 75		ISO	RGD:1318384	D	RGD:7240710	20241106	OMIM			
8808458	Dhx9	DExH-box helicase 9	gene	DOID:0061048	autosomal dominant intellectual developmental disorder 75		ISO	RGD:1318384	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DHX9-related disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 75 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 75	PMID:25741868|PMID:37369308
8808458	Dhx9	DExH-box helicase 9	gene	DOID:0080833	laryngomalacia		ISO	RGD:1318384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:10534	stomach cancer		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:1059	intellectual disability		ISO	RGD:1318384	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8808458	Dhx9	DExH-box helicase 9	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1318384	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25741868
8808458	Dhx9	DExH-box helicase 9	gene	DOID:10907	microcephaly		ISO	RGD:1318384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive microcephaly	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:11714	gestational diabetes		ISO	RGD:1318384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:11836	clubfoot		ISO	RGD:1318384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:1324	lung cancer		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:13620	patent foramen ovale		ISO	RGD:1318384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:1827	generalized epilepsy		ISO	RGD:1318384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:1909	melanoma		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:3275	thymoma		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1318384	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:540	strabismus		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8808458	Dhx9	DExH-box helicase 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:630	genetic disease		ISO	RGD:1318384	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1318384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8808458	Dhx9	DExH-box helicase 9	gene	DOID:9004865	Nuchal Cord		ISO	RGD:1318384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nuchal cord	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8808458	Dhx9	DExH-box helicase 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8808493	Plppr4	phospholipid phosphatase related 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8808493	Plppr4	phospholipid phosphatase related 4	gene	DOID:10534	stomach cancer		ISO	RGD:1605099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8808493	Plppr4	phospholipid phosphatase related 4	gene	DOID:3070	high grade glioma		ISO	RGD:1605099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8808493	Plppr4	phospholipid phosphatase related 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8808493	Plppr4	phospholipid phosphatase related 4	gene	DOID:4362	cervical cancer		ISO	RGD:1605099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8808493	Plppr4	phospholipid phosphatase related 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8808506	Ppp1r14b	protein phosphatase 1 regulatory inhibitor subunit 14B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8808506	Ppp1r14b	protein phosphatase 1 regulatory inhibitor subunit 14B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808506	Ppp1r14b	protein phosphatase 1 regulatory inhibitor subunit 14B	gene	DOID:1909	melanoma		ISO	RGD:1344402	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
8808506	Ppp1r14b	protein phosphatase 1 regulatory inhibitor subunit 14B	gene	DOID:4362	cervical cancer		ISO	RGD:1344402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8808506	Ppp1r14b	protein phosphatase 1 regulatory inhibitor subunit 14B	gene	DOID:5041	esophageal cancer		ISO	RGD:1344402	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8808506	Ppp1r14b	protein phosphatase 1 regulatory inhibitor subunit 14B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808506	Ppp1r14b	protein phosphatase 1 regulatory inhibitor subunit 14B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8808513	Padi6	peptidyl arginine deiminase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808513	Padi6	peptidyl arginine deiminase 6	gene	DOID:1324	lung cancer		ISO	RGD:1354366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8808513	Padi6	peptidyl arginine deiminase 6	gene	DOID:1924	hypogonadism		ISO	RGD:1354366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypergonadotropic hypogonadism	PMID:31042289
8808513	Padi6	peptidyl arginine deiminase 6	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1354366	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:31042289
8808513	Padi6	peptidyl arginine deiminase 6	gene	DOID:630	genetic disease		ISO	RGD:1354366	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8808513	Padi6	peptidyl arginine deiminase 6	gene	DOID:9000708	Oocyte/Zygote/Embryo Maturation Arrest 16		ISO	RGD:1354366	D	RGD:7240710	20190315	OMIM			
8808513	Padi6	peptidyl arginine deiminase 6	gene	DOID:9000708	Oocyte/Zygote/Embryo Maturation Arrest 16		ISO	RGD:1354366	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 16 | ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 16 | ClinVar Annotator: match by term: PADI6-related condition	PMID:17587491|PMID:18599511|PMID:25741868|PMID:27545678|PMID:34987164|PMID:37778376
8808513	Padi6	peptidyl arginine deiminase 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8808532	Pds5a	PDS5 cohesin associated factor A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8808532	Pds5a	PDS5 cohesin associated factor A	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8808532	Pds5a	PDS5 cohesin associated factor A	gene	DOID:0060058	lymphoma		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8808532	Pds5a	PDS5 cohesin associated factor A	gene	DOID:10534	stomach cancer		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8808532	Pds5a	PDS5 cohesin associated factor A	gene	DOID:1115	sarcoma		ISO	RGD:1604045	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8808532	Pds5a	PDS5 cohesin associated factor A	gene	DOID:11725	Cornelia de Lange syndrome		ISO	RGD:1316082	D	RGD:9068941	20220825	MouseDO		OMIM:122470 | OMIM:300590 | OMIM:300882 | OMIM:610759 | OMIM:614701	
8808532	Pds5a	PDS5 cohesin associated factor A	gene	DOID:1909	melanoma		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8808532	Pds5a	PDS5 cohesin associated factor A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8808532	Pds5a	PDS5 cohesin associated factor A	gene	DOID:2394	ovarian cancer		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8808532	Pds5a	PDS5 cohesin associated factor A	gene	DOID:3070	high grade glioma		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8808532	Pds5a	PDS5 cohesin associated factor A	gene	DOID:3275	thymoma		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8808532	Pds5a	PDS5 cohesin associated factor A	gene	DOID:4362	cervical cancer		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8808532	Pds5a	PDS5 cohesin associated factor A	gene	DOID:5041	esophageal cancer		ISO	RGD:1604045	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8808532	Pds5a	PDS5 cohesin associated factor A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808532	Pds5a	PDS5 cohesin associated factor A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8808532	Pds5a	PDS5 cohesin associated factor A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8808532	Pds5a	PDS5 cohesin associated factor A	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1604045	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
8808532	Pds5a	PDS5 cohesin associated factor A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8808532	Pds5a	PDS5 cohesin associated factor A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1604045	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
8808532	Pds5a	PDS5 cohesin associated factor A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8808532	Pds5a	PDS5 cohesin associated factor A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8808532	Pds5a	PDS5 cohesin associated factor A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8808575	Acsl3	acyl-CoA synthetase long chain family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808575	Acsl3	acyl-CoA synthetase long chain family member 3	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1602231	D	RGD:9068941	20200609	RGD			PMID:27270436|REF_RGD_ID:13831303
8808575	Acsl3	acyl-CoA synthetase long chain family member 3	gene	DOID:10283	prostate cancer	treatment	ISO	RGD:1602231	D	RGD:9068941	20200609	RGD			PMID:27270436|REF_RGD_ID:13831303
8808575	Acsl3	acyl-CoA synthetase long chain family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8808575	Acsl3	acyl-CoA synthetase long chain family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1602231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8808575	Acsl3	acyl-CoA synthetase long chain family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1602231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8808575	Acsl3	acyl-CoA synthetase long chain family member 3	gene	DOID:1612	breast cancer		ISO	RGD:1602231	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:23512947|REF_RGD_ID:13831301
8808575	Acsl3	acyl-CoA synthetase long chain family member 3	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1602231	D	RGD:9068941	20200609	RGD		DNA:deletion	PMID:28977883|REF_RGD_ID:13831299
8808575	Acsl3	acyl-CoA synthetase long chain family member 3	gene	DOID:1909	melanoma		ISO	RGD:1602231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8808575	Acsl3	acyl-CoA synthetase long chain family member 3	gene	DOID:2841	asthma		ISO	RGD:1602231	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:19221603|REF_RGD_ID:13831295
8808575	Acsl3	acyl-CoA synthetase long chain family member 3	gene	DOID:3070	high grade glioma		ISO	RGD:1602231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8808575	Acsl3	acyl-CoA synthetase long chain family member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8808575	Acsl3	acyl-CoA synthetase long chain family member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1602231	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8808575	Acsl3	acyl-CoA synthetase long chain family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808575	Acsl3	acyl-CoA synthetase long chain family member 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8808575	Acsl3	acyl-CoA synthetase long chain family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8808575	Acsl3	acyl-CoA synthetase long chain family member 3	gene	DOID:8466	retinal degeneration		ISO	RGD:70552	D	RGD:9068941	20260514	RGD		protein:increased expression:retina	PMID:34781030|REF_RGD_ID:713349440
8808575	Acsl3	acyl-CoA synthetase long chain family member 3	gene	DOID:9002283	Experimental Allergic Asthma		ISO	RGD:733171	D	RGD:9068941	20200609	RGD			PMID:23526225|REF_RGD_ID:13831300
8808575	Acsl3	acyl-CoA synthetase long chain family member 3	gene	DOID:9005372	Inflammation		ISO	RGD:70552	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:14622223|REF_RGD_ID:2315920
8808575	Acsl3	acyl-CoA synthetase long chain family member 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:70552	D	RGD:9068941	20200609	RGD			PMID:21136146|REF_RGD_ID:13831298
8808575	Acsl3	acyl-CoA synthetase long chain family member 3	gene	DOID:9007925	Sudden Cardiac Death	disease_progression	ISO	RGD:1602231	D	RGD:9068941	20200609	RGD			PMID:22661490|REF_RGD_ID:13831296
8808575	Acsl3	acyl-CoA synthetase long chain family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8808610	Atox1	antioxidant 1 copper chaperone	gene	DOID:10763	hypertension		ISO	RGD:737338	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22753205
8808610	Atox1	antioxidant 1 copper chaperone	gene	DOID:1909	melanoma		ISO	RGD:737338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8808610	Atox1	antioxidant 1 copper chaperone	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8808610	Atox1	antioxidant 1 copper chaperone	gene	DOID:332	amyotrophic lateral sclerosis	disease_progression	ISO	RGD:732672	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal chord	PMID:19656261|REF_RGD_ID:13524567
8808610	Atox1	antioxidant 1 copper chaperone	gene	DOID:4362	cervical cancer		ISO	RGD:737338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8808610	Atox1	antioxidant 1 copper chaperone	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808610	Atox1	antioxidant 1 copper chaperone	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:737338	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23624903
8808610	Atox1	antioxidant 1 copper chaperone	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:737338	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:31961892
8808610	Atox1	antioxidant 1 copper chaperone	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:737338	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25053573
8808623	Uri1	URI1 prefoldin like chaperone	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8808623	Uri1	URI1 prefoldin like chaperone	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808623	Uri1	URI1 prefoldin like chaperone	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8808623	Uri1	URI1 prefoldin like chaperone	gene	DOID:1324	lung cancer		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8808623	Uri1	URI1 prefoldin like chaperone	gene	DOID:305	carcinoma		ISO	RGD:1321217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21397856
8808623	Uri1	URI1 prefoldin like chaperone	gene	DOID:3275	thymoma		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8808623	Uri1	URI1 prefoldin like chaperone	gene	DOID:4362	cervical cancer		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8808623	Uri1	URI1 prefoldin like chaperone	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8808623	Uri1	URI1 prefoldin like chaperone	gene	DOID:5041	esophageal cancer		ISO	RGD:1321217	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8808623	Uri1	URI1 prefoldin like chaperone	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8808623	Uri1	URI1 prefoldin like chaperone	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808623	Uri1	URI1 prefoldin like chaperone	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8808623	Uri1	URI1 prefoldin like chaperone	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1321217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21397856
8808623	Uri1	URI1 prefoldin like chaperone	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1321217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21397856
8808645	Nipal1	NIPA like domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808645	Nipal1	NIPA like domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8808645	Nipal1	NIPA like domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1602833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8808645	Nipal1	NIPA like domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1602833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8808645	Nipal1	NIPA like domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8808645	Nipal1	NIPA like domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808660	Rpl36a	ribosomal protein L36a	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1315369	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8808660	Rpl36a	ribosomal protein L36a	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1315369	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:0080833	laryngomalacia		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:10907	microcephaly		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:11162	respiratory failure		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:25741868
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:1389	polyneuropathy		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Motor polyneuropathy	PMID:25741868
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:1909	melanoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:3275	thymoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:630	genetic disease		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9000084	Childhood-Onset Neurodegeneration with Cerebellar Atrophy		ISO	RGD:1314853	D	RGD:7240710	20190501	OMIM			
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9000084	Childhood-Onset Neurodegeneration with Cerebellar Atrophy		ISO	RGD:1314853	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: AGTPBP1-related disorder | ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY | ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with cerebellar atrophy	PMID:25741868|PMID:30420557|PMID:33624935
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1314853	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16952463
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314853	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9009220	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES		ISO	RGD:1314853	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	PMID:25741868|PMID:30420557
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8808669	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8808717	Cdk8	cyclin dependent kinase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808717	Cdk8	cyclin dependent kinase 8	gene	DOID:1059	intellectual disability		ISO	RGD:1348539	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:30905399
8808717	Cdk8	cyclin dependent kinase 8	gene	DOID:10908	hydrocephalus		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
8808717	Cdk8	cyclin dependent kinase 8	gene	DOID:1115	sarcoma		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8808717	Cdk8	cyclin dependent kinase 8	gene	DOID:12930	dilated cardiomyopathy	susceptibility	ISO	RGD:1348539	D	RGD:9068941	20220929	RGD		DNA:SNPs, haplotype:intron: (rs17083838, rs7992670) (human)	PMID:34815954|REF_RGD_ID:155260314
8808717	Cdk8	cyclin dependent kinase 8	gene	DOID:1324	lung cancer		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8808717	Cdk8	cyclin dependent kinase 8	gene	DOID:14289	Ebstein anomaly		ISO	RGD:1348539	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ebstein anomaly	PMID:25741868
8808717	Cdk8	cyclin dependent kinase 8	gene	DOID:1909	melanoma		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8808717	Cdk8	cyclin dependent kinase 8	gene	DOID:3275	thymoma		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8808717	Cdk8	cyclin dependent kinase 8	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868
8808717	Cdk8	cyclin dependent kinase 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8808717	Cdk8	cyclin dependent kinase 8	gene	DOID:630	genetic disease		ISO	RGD:1348539	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8808717	Cdk8	cyclin dependent kinase 8	gene	DOID:9001861	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES		ISO	RGD:1348539	D	RGD:7240710	20200226	OMIM			
8808717	Cdk8	cyclin dependent kinase 8	gene	DOID:9001861	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES		ISO	RGD:1348539	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: CDK8-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia and behavioral abnormalities	PMID:25741868|PMID:28492532|PMID:30905399|PMID:33958710|PMID:38193604
8808717	Cdk8	cyclin dependent kinase 8	gene	DOID:9005745	Stillbirth		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stillbirth	PMID:25741868
8808717	Cdk8	cyclin dependent kinase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8808717	Cdk8	cyclin dependent kinase 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8808717	Cdk8	cyclin dependent kinase 8	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
8808717	Cdk8	cyclin dependent kinase 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8808717	Cdk8	cyclin dependent kinase 8	gene	DOID:9256	colorectal cancer		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8808737	Dnase1l1	deoxyribonuclease 1 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8808737	Dnase1l1	deoxyribonuclease 1 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8808737	Dnase1l1	deoxyribonuclease 1 like 1	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1348755	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614
8808737	Dnase1l1	deoxyribonuclease 1 like 1	gene	DOID:1909	melanoma		ISO	RGD:1348755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8808737	Dnase1l1	deoxyribonuclease 1 like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8808737	Dnase1l1	deoxyribonuclease 1 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808737	Dnase1l1	deoxyribonuclease 1 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8808737	Dnase1l1	deoxyribonuclease 1 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8808737	Dnase1l1	deoxyribonuclease 1 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8808749	Usp12	ubiquitin specific peptidase 12	gene	DOID:10534	stomach cancer		ISO	RGD:1317587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8808749	Usp12	ubiquitin specific peptidase 12	gene	DOID:1324	lung cancer		ISO	RGD:1317587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8808749	Usp12	ubiquitin specific peptidase 12	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8808749	Usp12	ubiquitin specific peptidase 12	gene	DOID:4362	cervical cancer		ISO	RGD:1317587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8808749	Usp12	ubiquitin specific peptidase 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1317587	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8808749	Usp12	ubiquitin specific peptidase 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8808749	Usp12	ubiquitin specific peptidase 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8808749	Usp12	ubiquitin specific peptidase 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8808765	Tmem214	transmembrane protein 214	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8808765	Tmem214	transmembrane protein 214	gene	DOID:1115	sarcoma		ISO	RGD:1606543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8808765	Tmem214	transmembrane protein 214	gene	DOID:12849	autistic disorder		ISO	RGD:1606543	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Autism	
8808765	Tmem214	transmembrane protein 214	gene	DOID:1324	lung cancer		ISO	RGD:1606543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8808765	Tmem214	transmembrane protein 214	gene	DOID:1909	melanoma		ISO	RGD:1606543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8808765	Tmem214	transmembrane protein 214	gene	DOID:4362	cervical cancer		ISO	RGD:1606543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8808765	Tmem214	transmembrane protein 214	gene	DOID:5041	esophageal cancer		ISO	RGD:1606543	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8808765	Tmem214	transmembrane protein 214	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808765	Tmem214	transmembrane protein 214	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8808765	Tmem214	transmembrane protein 214	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8808765	Tmem214	transmembrane protein 214	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8808765	Tmem214	transmembrane protein 214	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8808785	Slc9d1	solute carrier family 9 member D1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808785	Slc9d1	solute carrier family 9 member D1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8808785	Slc9d1	solute carrier family 9 member D1	gene	DOID:1115	sarcoma		ISO	RGD:1315285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8808785	Slc9d1	solute carrier family 9 member D1	gene	DOID:1909	melanoma		ISO	RGD:1315285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8808785	Slc9d1	solute carrier family 9 member D1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8808785	Slc9d1	solute carrier family 9 member D1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1315285	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8808785	Slc9d1	solute carrier family 9 member D1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8808785	Slc9d1	solute carrier family 9 member D1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808785	Slc9d1	solute carrier family 9 member D1	gene	DOID:6039	uveal melanoma		ISO	RGD:1315285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8808785	Slc9d1	solute carrier family 9 member D1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8808785	Slc9d1	solute carrier family 9 member D1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8808785	Slc9d1	solute carrier family 9 member D1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8808807	Uxs1	UDP-glucuronate decarboxylase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8808807	Uxs1	UDP-glucuronate decarboxylase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808807	Uxs1	UDP-glucuronate decarboxylase 1	gene	DOID:10534	stomach cancer		ISO	RGD:735996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8808807	Uxs1	UDP-glucuronate decarboxylase 1	gene	DOID:1115	sarcoma		ISO	RGD:735996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8808807	Uxs1	UDP-glucuronate decarboxylase 1	gene	DOID:1324	lung cancer		ISO	RGD:735996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8808807	Uxs1	UDP-glucuronate decarboxylase 1	gene	DOID:1909	melanoma		ISO	RGD:735996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8808807	Uxs1	UDP-glucuronate decarboxylase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8808807	Uxs1	UDP-glucuronate decarboxylase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:735996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8808807	Uxs1	UDP-glucuronate decarboxylase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:735996	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8808807	Uxs1	UDP-glucuronate decarboxylase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808807	Uxs1	UDP-glucuronate decarboxylase 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:735996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8808807	Uxs1	UDP-glucuronate decarboxylase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8808807	Uxs1	UDP-glucuronate decarboxylase 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:735996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16759393
8808807	Uxs1	UDP-glucuronate decarboxylase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8808835	Rgr	retinal G protein coupled receptor	gene	DOID:0110394	retinitis pigmentosa 44		ISO	RGD:1319366	D	RGD:7240710	20180130	OMIM			
8808835	Rgr	retinal G protein coupled receptor	gene	DOID:0110394	retinitis pigmentosa 44		ISO	RGD:1319366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 44 | ClinVar Annotator: match by term: RGR-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 44	PMID:10581022|PMID:25741868|PMID:27623334|PMID:28041643|PMID:28492532|PMID:28838317|PMID:30337596|PMID:30347075|PMID:31964843|PMID:32531858|PMID:34229535|PMID:38219857
8808835	Rgr	retinal G protein coupled receptor	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10581022|PMID:28492532
8808835	Rgr	retinal G protein coupled receptor	gene	DOID:5723	optic atrophy		ISO	RGD:1319366	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8808835	Rgr	retinal G protein coupled receptor	gene	DOID:8501	fundus dystrophy		ISO	RGD:1319366	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10581022|PMID:22995991|PMID:24265693|PMID:25741868|PMID:28492532|PMID:31429209|PMID:32483926|PMID:34426522
8808855	Prepl	prolyl endopeptidase like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8808855	Prepl	prolyl endopeptidase like	gene	DOID:0060858	hypotonia-cystinuria syndrome		ISO	RGD:1606027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26247364
8808855	Prepl	prolyl endopeptidase like	gene	DOID:0080587	congenital myasthenic syndrome 22		ISO	RGD:1606027	D	RGD:7240710	20190315	OMIM			
8808855	Prepl	prolyl endopeptidase like	gene	DOID:0080587	congenital myasthenic syndrome 22		ISO	RGD:1606027	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 22 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 22 | ClinVar Annotator: match by term: PREPL DEFICIENCY	PMID:16199547|PMID:17576681|PMID:24610330|PMID:25741868|PMID:28492532|PMID:28726805|PMID:29483676|PMID:29913539|PMID:32707643|PMID:33233562|PMID:9536098
8808855	Prepl	prolyl endopeptidase like	gene	DOID:10534	stomach cancer		ISO	RGD:1606027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8808855	Prepl	prolyl endopeptidase like	gene	DOID:1115	sarcoma		ISO	RGD:1606027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8808855	Prepl	prolyl endopeptidase like	gene	DOID:1324	lung cancer		ISO	RGD:1606027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8808855	Prepl	prolyl endopeptidase like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8808855	Prepl	prolyl endopeptidase like	gene	DOID:3275	thymoma		ISO	RGD:1606027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8808855	Prepl	prolyl endopeptidase like	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:1606027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8808855	Prepl	prolyl endopeptidase like	gene	DOID:4362	cervical cancer		ISO	RGD:1606027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8808855	Prepl	prolyl endopeptidase like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8808855	Prepl	prolyl endopeptidase like	gene	DOID:5041	esophageal cancer		ISO	RGD:1606027	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8808855	Prepl	prolyl endopeptidase like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16199547|PMID:24610330|PMID:25741868|PMID:28492532|PMID:28726805|PMID:29913539
8808855	Prepl	prolyl endopeptidase like	gene	DOID:630	genetic disease		ISO	RGD:1606027	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8808855	Prepl	prolyl endopeptidase like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8808855	Prepl	prolyl endopeptidase like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606027	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8808855	Prepl	prolyl endopeptidase like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8808899	Sack1b	scaffolding CK1 anchoring protein B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808899	Sack1b	scaffolding CK1 anchoring protein B	gene	DOID:5041	esophageal cancer		ISO	RGD:1323733	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8808899	Sack1b	scaffolding CK1 anchoring protein B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808899	Sack1b	scaffolding CK1 anchoring protein B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8808916	Dnah3	dynein axonemal heavy chain 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8808916	Dnah3	dynein axonemal heavy chain 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808916	Dnah3	dynein axonemal heavy chain 3	gene	DOID:0070165	spermatogenic failure 18		ISO	RGD:1314138	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 18	PMID:32017041
8808916	Dnah3	dynein axonemal heavy chain 3	gene	DOID:10283	prostate cancer		ISO	RGD:1314138	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8808916	Dnah3	dynein axonemal heavy chain 3	gene	DOID:10283	prostate cancer		ISO	RGD:1314138	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8808916	Dnah3	dynein axonemal heavy chain 3	gene	DOID:10534	stomach cancer		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8808916	Dnah3	dynein axonemal heavy chain 3	gene	DOID:1059	intellectual disability		ISO	RGD:1314138	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8808916	Dnah3	dynein axonemal heavy chain 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8808916	Dnah3	dynein axonemal heavy chain 3	gene	DOID:1115	sarcoma		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8808916	Dnah3	dynein axonemal heavy chain 3	gene	DOID:1324	lung cancer		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8808916	Dnah3	dynein axonemal heavy chain 3	gene	DOID:1909	melanoma		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8808916	Dnah3	dynein axonemal heavy chain 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8808916	Dnah3	dynein axonemal heavy chain 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8808916	Dnah3	dynein axonemal heavy chain 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1314138	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8808916	Dnah3	dynein axonemal heavy chain 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8808916	Dnah3	dynein axonemal heavy chain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808916	Dnah3	dynein axonemal heavy chain 3	gene	DOID:9003566	Mesothelioma		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8808916	Dnah3	dynein axonemal heavy chain 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8808916	Dnah3	dynein axonemal heavy chain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8808916	Dnah3	dynein axonemal heavy chain 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8808982	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8808982	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8808982	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:1115	sarcoma		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8808982	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:1324	lung cancer		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8808982	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8808982	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8808982	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1606229	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8808982	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8808982	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8808982	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8808982	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8808982	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8809006	LOC102006544	cytochrome b-c1 complex subunit 8	gene	DOID:0080111	mitochondrial complex III deficiency nuclear type 1		ISO	RGD:1604364	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	
8809006	LOC102006544	cytochrome b-c1 complex subunit 8	gene	DOID:0080113	mitochondrial complex III deficiency nuclear type 4		ISO	RGD:1604364	D	RGD:7240710	20180130	OMIM			
8809006	LOC102006544	cytochrome b-c1 complex subunit 8	gene	DOID:0080113	mitochondrial complex III deficiency nuclear type 4		ISO	RGD:1604364	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 4 | ClinVar Annotator: match by term: UQCRQ-related condition	PMID:18439546|PMID:25741868|PMID:28492532
8809006	LOC102006544	cytochrome b-c1 complex subunit 8	gene	DOID:10534	stomach cancer		ISO	RGD:1604364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8809006	LOC102006544	cytochrome b-c1 complex subunit 8	gene	DOID:1324	lung cancer		ISO	RGD:1604364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8809006	LOC102006544	cytochrome b-c1 complex subunit 8	gene	DOID:4362	cervical cancer		ISO	RGD:1604364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8809006	LOC102006544	cytochrome b-c1 complex subunit 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809006	LOC102006544	cytochrome b-c1 complex subunit 8	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8809016	Vps53	VPS53 subunit of GARP complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8809016	Vps53	VPS53 subunit of GARP complex	gene	DOID:0060271	pontocerebellar hypoplasia type 2E		ISO	RGD:1605366	D	RGD:7240710	20180130	OMIM			
8809016	Vps53	VPS53 subunit of GARP complex	gene	DOID:0060271	pontocerebellar hypoplasia type 2E		ISO	RGD:1605366	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2E | ClinVar Annotator: match by term: VPS53-related condition	PMID:17576681|PMID:24577744|PMID:25741868|PMID:26357016|PMID:28492532|PMID:28567303|PMID:30100179|PMID:31418091|PMID:9536098
8809016	Vps53	VPS53 subunit of GARP complex	gene	DOID:10534	stomach cancer		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8809016	Vps53	VPS53 subunit of GARP complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8809016	Vps53	VPS53 subunit of GARP complex	gene	DOID:1115	sarcoma		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8809016	Vps53	VPS53 subunit of GARP complex	gene	DOID:1324	lung cancer		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8809016	Vps53	VPS53 subunit of GARP complex	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8809016	Vps53	VPS53 subunit of GARP complex	gene	DOID:3275	thymoma		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8809016	Vps53	VPS53 subunit of GARP complex	gene	DOID:4362	cervical cancer		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8809016	Vps53	VPS53 subunit of GARP complex	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8809016	Vps53	VPS53 subunit of GARP complex	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8809016	Vps53	VPS53 subunit of GARP complex	gene	DOID:5041	esophageal cancer		ISO	RGD:1605366	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8809016	Vps53	VPS53 subunit of GARP complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809016	Vps53	VPS53 subunit of GARP complex	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8809016	Vps53	VPS53 subunit of GARP complex	gene	DOID:630	genetic disease		ISO	RGD:1605366	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:32368696
8809016	Vps53	VPS53 subunit of GARP complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8809016	Vps53	VPS53 subunit of GARP complex	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605366	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
8809016	Vps53	VPS53 subunit of GARP complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8809016	Vps53	VPS53 subunit of GARP complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8809016	Vps53	VPS53 subunit of GARP complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8809041	Thoc6	THO complex subunit 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8809041	Thoc6	THO complex subunit 6	gene	DOID:0070445	early-onset dystonia and/or spastic paraplegia		ISO	RGD:1601739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia	PMID:25741868|PMID:27295358|PMID:30476144|PMID:31216405|PMID:31421288|PMID:35426486|PMID:36900003
8809041	Thoc6	THO complex subunit 6	gene	DOID:10534	stomach cancer		ISO	RGD:1601739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8809041	Thoc6	THO complex subunit 6	gene	DOID:1059	intellectual disability		ISO	RGD:1601739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:18414213|PMID:25741868|PMID:27102954|PMID:27295358|PMID:30476144|PMID:31216405|PMID:31421288|PMID:35426486|PMID:36900003
8809041	Thoc6	THO complex subunit 6	gene	DOID:10907	microcephaly		ISO	RGD:1601739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:18414213|PMID:25741868|PMID:27102954|PMID:27295358|PMID:30476144|PMID:31216405|PMID:31421288|PMID:35426486|PMID:36900003
8809041	Thoc6	THO complex subunit 6	gene	DOID:11383	cryptorchidism		ISO	RGD:1601739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:21270786|PMID:25741868|PMID:27295358|PMID:27981572|PMID:30476144|PMID:31216405|PMID:31421288|PMID:35426486|PMID:36900003
8809041	Thoc6	THO complex subunit 6	gene	DOID:11383	cryptorchidism		ISO	RGD:1601739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:27295358|PMID:30476144|PMID:31216405|PMID:31421288|PMID:35426486|PMID:36900003
8809041	Thoc6	THO complex subunit 6	gene	DOID:1324	lung cancer		ISO	RGD:1601739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8809041	Thoc6	THO complex subunit 6	gene	DOID:3070	high grade glioma		ISO	RGD:1601739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8809041	Thoc6	THO complex subunit 6	gene	DOID:3275	thymoma		ISO	RGD:1601739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8809041	Thoc6	THO complex subunit 6	gene	DOID:543	dystonia		ISO	RGD:1601739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:27295358|PMID:30476144|PMID:31216405|PMID:31421288|PMID:35426486|PMID:36900003
8809041	Thoc6	THO complex subunit 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8809041	Thoc6	THO complex subunit 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809041	Thoc6	THO complex subunit 6	gene	DOID:630	genetic disease		ISO	RGD:1601739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26739162|PMID:27102954|PMID:27295358|PMID:30476144|PMID:31216405|PMID:31421288|PMID:35426486|PMID:36900003
8809041	Thoc6	THO complex subunit 6	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1601739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:27295358|PMID:30476144|PMID:31216405|PMID:31421288|PMID:35426486|PMID:36900003
8809041	Thoc6	THO complex subunit 6	gene	DOID:9005616	Micrognathism		ISO	RGD:1601739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:18414213|PMID:25741868|PMID:27102954|PMID:27295358|PMID:30476144|PMID:31216405|PMID:31421288|PMID:35426486|PMID:36900003
8809041	Thoc6	THO complex subunit 6	gene	DOID:9006768	Beaulieu-Boycott-Innes Syndrome		ISO	RGD:1601739	D	RGD:7240710	20180130	OMIM			
8809041	Thoc6	THO complex subunit 6	gene	DOID:9006768	Beaulieu-Boycott-Innes Syndrome		ISO	RGD:1601739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BEAULIEU-BOYCOTT-INNES SYNDROME | ClinVar Annotator: match by term: Beaulieu-Boycott-Innes Syndrome | ClinVar Annotator: match by term: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations | ClinVar Annotator: match by term: THOC6-related condition | ClinVar Annotator: match by term: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	PMID:18414213|PMID:23621916|PMID:25741868|PMID:26739162|PMID:27102954|PMID:27295358|PMID:30476144|PMID:31216405|PMID:31421288|PMID:35426486|PMID:36900003|PMID:38388531
8809041	Thoc6	THO complex subunit 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8809041	Thoc6	THO complex subunit 6	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1601739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:18414213|PMID:25741868|PMID:27102954|PMID:27295358|PMID:30476144|PMID:31216405|PMID:31421288|PMID:35426486|PMID:36900003
8809041	Thoc6	THO complex subunit 6	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1601739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:27295358|PMID:30476144|PMID:31216405|PMID:31421288|PMID:35426486|PMID:36900003
8809063	Sp9	Sp9 transcription factor	gene	DOID:1059	intellectual disability		ISO	RGD:2303677	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:38288683
8809063	Sp9	Sp9 transcription factor	gene	DOID:12849	autistic disorder		ISO	RGD:2303677	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	
8809063	Sp9	Sp9 transcription factor	gene	DOID:1824	status epilepticus		ISO	RGD:2303677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized convulsive status epilepticus	
8809063	Sp9	Sp9 transcription factor	gene	DOID:1826	epilepsy		ISO	RGD:2303677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:38288683
8809063	Sp9	Sp9 transcription factor	gene	DOID:1827	generalized epilepsy		ISO	RGD:2303677	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868|PMID:38288683
8809063	Sp9	Sp9 transcription factor	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:2303677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8809063	Sp9	Sp9 transcription factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:2303677	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:38288683
8809063	Sp9	Sp9 transcription factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:2303677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:38288683
8809070	Drg1	developmentally regulated GTP binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8809070	Drg1	developmentally regulated GTP binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8809070	Drg1	developmentally regulated GTP binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1312753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8809070	Drg1	developmentally regulated GTP binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1312753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8809070	Drg1	developmentally regulated GTP binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8809070	Drg1	developmentally regulated GTP binding protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312753	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8809070	Drg1	developmentally regulated GTP binding protein 1	gene	DOID:9007532	TAN-ALMURSHEDI SYNDROME		ISO	RGD:1312753	D	RGD:7240710	20240306	OMIM			
8809070	Drg1	developmentally regulated GTP binding protein 1	gene	DOID:9007532	TAN-ALMURSHEDI SYNDROME		ISO	RGD:1312753	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: TAN-ALMURSHEDI SYNDROME	PMID:25741868|PMID:37179472
8809070	Drg1	developmentally regulated GTP binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8809105	OPTN	optineurin	gene	DOID:1070	primary open angle glaucoma	susceptibility	ISO	RGD:736202	D	RGD:9068941	20260730	RGD		DNA:polymorphism:exon:p.M98K(human)	PMID:15226658|REF_RGD_ID:7775043
8809105	OPTN	optineurin	gene	DOID:1070	primary open angle glaucoma	susceptibility	ISO	RGD:736202	D	RGD:9068941	20260730	RGD		DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human)	PMID:15557444|REF_RGD_ID:7775041
8809105	Optn	optineurin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8809105	Optn	optineurin	gene	DOID:0060201	amyotrophic lateral sclerosis type 10		ISO	RGD:736202	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10	PMID:20428114|PMID:21802176|PMID:21852022|PMID:25741868|PMID:26203661|PMID:28492532
8809105	Optn	optineurin	gene	DOID:0060203	amyotrophic lateral sclerosis type 12		ISO	RGD:736202	D	RGD:7240710	20260729	OMIM			
8809105	Optn	optineurin	gene	DOID:0060203	amyotrophic lateral sclerosis type 12		ISO	RGD:736202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 12 | ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12	PMID:11834836|PMID:11978762|PMID:12208142|PMID:12789137|PMID:12939304|PMID:14597044|PMID:15226658|PMID:15312511|PMID:15326130|PMID:15370540|PMID:15547491|PMID:15557444|PMID:15761120|PMID:16148883|PMID:16199547|PMID:16205626|PMID:16619239|PMID:16885925|PMID:16972651|PMID:17122126|PMID:17293779|PMID:17359525|PMID:17389490|PMID:17576681|PMID:19096531|PMID:19145250|PMID:19172505|PMID:19340308|PMID:19609363|PMID:19672125|PMID:20174559|PMID:20388642|PMID:20428114|PMID:20671613|PMID:20981092|PMID:21074290|PMID:21217154|PMID:21220178|PMID:21408173|PMID:21613650|PMID:21852022|PMID:22402017|PMID:22708870|PMID:22722621|PMID:22892313|PMID:22995991|PMID:23062601|PMID:23881933|PMID:24683533|PMID:24908169|PMID:24983867|PMID:25333069|PMID:25382069|PMID:25484089|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25943890|PMID:26467025|PMID:26503823|PMID:26566915|PMID:26740678|PMID:27485216|PMID:27620379|PMID:28430856|PMID:28492532|PMID:28882891|PMID:29411640|PMID:29525178|PMID:29525180|PMID:29540704|PMID:29558868|PMID:29650794|PMID:29895397|PMID:30054184|PMID:30519240|PMID:30739198|PMID:31108397|PMID:31198474|PMID:31788332|PMID:31838784|PMID:32028661|PMID:32893042|PMID:34275688|PMID:36133075|PMID:37952009|PMID:38852112|PMID:9536098
8809105	Optn	optineurin	gene	DOID:0080600	COVID-19		ISO	RGD:736202	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8809105	Optn	optineurin	gene	DOID:0081294	neuronal intranuclear inclusion disease		ISO	RGD:736202	D	RGD:9068941	20200609	RGD		protein:increased expression:neuron, nucleus	PMID:22318854|REF_RGD_ID:6480499
8809105	Optn	optineurin	gene	DOID:1067	open-angle glaucoma		ISO	RGD:736202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21059646|PMID:25096716
8809105	Optn	optineurin	gene	DOID:1067	open-angle glaucoma		ISO	RGD:736202	D	RGD:9068941	20200609	RGD			PMID:11834836|REF_RGD_ID:1600995
8809105	Optn	optineurin	gene	DOID:1067	open-angle glaucoma		ISO	RGD:736202	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.M98K (human)	PMID:14627677|REF_RGD_ID:6480510
8809105	Optn	optineurin	gene	DOID:1067	open-angle glaucoma	no_association	ISO	RGD:736202	D	RGD:9068941	20200609	RGD		DNA:missense mutations, SNP: :multiple	PMID:19096531|REF_RGD_ID:6480513
8809105	Optn	optineurin	gene	DOID:1067	open-angle glaucoma	no_association	ISO	RGD:736202	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.M98K (human)	PMID:16020311|REF_RGD_ID:6480509
8809105	Optn	optineurin	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:736202	D	RGD:7240710	20260729	OMIM			
8809105	Optn	optineurin	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:736202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary open angle glaucoma	PMID:11834836|PMID:11978762|PMID:12208142|PMID:12789137|PMID:12939304|PMID:14597044|PMID:15226658|PMID:15312511|PMID:15326130|PMID:15370540|PMID:15547491|PMID:15557444|PMID:15761120|PMID:16148883|PMID:16199547|PMID:16205626|PMID:16619239|PMID:16885925|PMID:17122126|PMID:17293779|PMID:17359525|PMID:17389490|PMID:17576681|PMID:19096531|PMID:19145250|PMID:19172505|PMID:19672125|PMID:20388642|PMID:20428114|PMID:20671613|PMID:20981092|PMID:21074290|PMID:21217154|PMID:21220178|PMID:21408173|PMID:21613650|PMID:21852022|PMID:22402017|PMID:22708870|PMID:22722621|PMID:22892313|PMID:22995991|PMID:23062601|PMID:24683533|PMID:24908169|PMID:25333069|PMID:25382069|PMID:25741868|PMID:25943890|PMID:26467025|PMID:26503823|PMID:26566915|PMID:26740678|PMID:27485216|PMID:27620379|PMID:28430856|PMID:28492532|PMID:28882891|PMID:29411640|PMID:29525178|PMID:29525180|PMID:29540704|PMID:29895397|PMID:30519240|PMID:30739198|PMID:31108397|PMID:31198474|PMID:31838784|PMID:32028661|PMID:34275688|PMID:36133075|PMID:38852112|PMID:9536098
8809105	Optn	optineurin	gene	DOID:1070	primary open angle glaucoma	no_association	ISO	RGD:736202	D	RGD:9068941	20200609	RGD		DNA:SNPs:cds:p.T34T,E50K,M98K,R545Q, 691_692insAG,	PMID:19172505|REF_RGD_ID:7775049
8809105	Optn	optineurin	gene	DOID:1115	sarcoma		ISO	RGD:736202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8809105	Optn	optineurin	gene	DOID:12858	Huntington's disease		ISO	RGD:736202	D	RGD:9068941	20200609	RGD		protein:increased expression:neuron, nucleus	PMID:22318854|REF_RGD_ID:6480499
8809105	Optn	optineurin	gene	DOID:13544	low tension glaucoma		ISO	RGD:733470	D	RGD:9068941	20220825	MouseDO			
8809105	Optn	optineurin	gene	DOID:13544	low tension glaucoma	susceptibility	ISO	RGD:736202	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon,introns:	PMID:16148883|REF_RGD_ID:7771548
8809105	Optn	optineurin	gene	DOID:13544	low tension glaucoma	susceptibility	ISO	RGD:736202	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:p.M98K(human)	PMID:15226658|REF_RGD_ID:7775043
8809105	Optn	optineurin	gene	DOID:13544	low tension glaucoma	susceptibility	ISO	RGD:736202	D	RGD:9068941	20200609	RGD		DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human)	PMID:15557444|REF_RGD_ID:7775041
8809105	Optn	optineurin	gene	DOID:13641	exfoliation syndrome	no_association	ISO	RGD:736202	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.M98K (human)	PMID:16020311|REF_RGD_ID:6480509
8809105	Optn	optineurin	gene	DOID:13948	bladder neck obstruction		ISO	RGD:628886	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder:	PMID:16361812|REF_RGD_ID:7775024
8809105	Optn	optineurin	gene	DOID:14330	Parkinson's disease		ISO	RGD:628886	D	RGD:9068941	20200609	RGD		protein:increased expression:substantia nigra (rat)	PMID:27473339|REF_RGD_ID:13432580
8809105	Optn	optineurin	gene	DOID:1686	glaucoma	susceptibility	ISO	RGD:736202	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:	PMID:16148883|REF_RGD_ID:7771548
8809105	Optn	optineurin	gene	DOID:224	transient cerebral ischemia		ISO	RGD:628886	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebral cortex (rat)	PMID:24235151|REF_RGD_ID:13434905
8809105	Optn	optineurin	gene	DOID:231	motor neuron disease		ISO	RGD:736202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Motor neuron disease	PMID:28089114|PMID:28492532|PMID:29080331
8809105	Optn	optineurin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8809105	Optn	optineurin	gene	DOID:3275	thymoma		ISO	RGD:736202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8809105	Optn	optineurin	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:736202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868
8809105	Optn	optineurin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8809105	Optn	optineurin	gene	DOID:4362	cervical cancer		ISO	RGD:736202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8809105	Optn	optineurin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8809105	Optn	optineurin	gene	DOID:5041	esophageal cancer		ISO	RGD:736202	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8809105	Optn	optineurin	gene	DOID:5408	Paget disease of bone		ISO	RGD:736202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20436471|PMID:21059646
8809105	Optn	optineurin	gene	DOID:5408	Paget disease of bone		ISO	RGD:736202	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1561570 (human)	PMID:20436471|REF_RGD_ID:6480512
8809105	Optn	optineurin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:28492532|PMID:9536098
8809105	Optn	optineurin	gene	DOID:576	proteinuria		ISO	RGD:628886	D	RGD:9068941	20200609	RGD		associated with Nephrosis, Puromycin Aminonucleoside;protein:increased expression:renal glomerulus (rat)	PMID:25096716|REF_RGD_ID:13434904
8809105	Optn	optineurin	gene	DOID:630	genetic disease		ISO	RGD:736202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12789137|PMID:12939304|PMID:15326130|PMID:16205626|PMID:16681888|PMID:17293779|PMID:17389490|PMID:17576681|PMID:19096531|PMID:19672125|PMID:20388642|PMID:20428114|PMID:21074290|PMID:21408173|PMID:21613650|PMID:21852022|PMID:22722621|PMID:22892313|PMID:25382069|PMID:25741868|PMID:25943890|PMID:26467025|PMID:28430856|PMID:28492532|PMID:28882891|PMID:29525178|PMID:30739198|PMID:31198474|PMID:32028661|PMID:37133535|PMID:9536098
8809105	Optn	optineurin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8809105	Optn	optineurin	gene	DOID:8466	retinal degeneration		ISO	RGD:733470	D	RGD:9068941	20200609	RGD			PMID:20388642|REF_RGD_ID:6480507
8809105	Optn	optineurin	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:736202	D	RGD:9068941	20200609	RGD		protein:increased expression:neuron, nucleus	PMID:22318854|REF_RGD_ID:6480499
8809105	Optn	optineurin	gene	DOID:9000930	Dental Pulp Exposure		ISO	RGD:628886	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dental pulp (rat)	PMID:16109995|REF_RGD_ID:7775038
8809105	Optn	optineurin	gene	DOID:9001062	Normal Tension Glaucoma		ISO	RGD:736202	D	RGD:7240710	20260729	OMIM			
8809105	Optn	optineurin	gene	DOID:9001062	Normal Tension Glaucoma		ISO	RGD:736202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GLAUCOMA, NORMAL PRESSURE, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Glaucoma, normal tension, susceptibility to	PMID:11834836|PMID:11978762|PMID:12208142|PMID:12789137|PMID:15761120|PMID:16619239|PMID:17293779|PMID:19096531|PMID:22892313|PMID:25741868|PMID:26467025|PMID:28492532
8809105	Optn	optineurin	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:628886	D	RGD:9068941	20200609	RGD			PMID:16109995|REF_RGD_ID:7775038
8809105	Optn	optineurin	gene	DOID:9002031	Frontotemporal Lobar Degeneration		ISO	RGD:736202	D	RGD:9068941	20200609	RGD			PMID:21360076|REF_RGD_ID:6480505
8809105	Optn	optineurin	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:736202	D	RGD:9068941	20200609	RGD		protein:increased expression:neuron, nucleus	PMID:22318854|REF_RGD_ID:6480499
8809105	Optn	optineurin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8809105	Optn	optineurin	gene	DOID:9007708	Glaucoma 1, Open Angle, E		ISO	RGD:736202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GLAUCOMA 1, OPEN ANGLE, E | ClinVar Annotator: match by term: Glaucoma 1, open angle, E | ClinVar Annotator: match by term: Glaucoma 1, open angle, e	PMID:11834836|PMID:11978762|PMID:12208142|PMID:12789137|PMID:12939304|PMID:14597044|PMID:15226658|PMID:15312511|PMID:15326130|PMID:15370540|PMID:15547491|PMID:15557444|PMID:15761120|PMID:16148883|PMID:16199547|PMID:16205626|PMID:16619239|PMID:16885925|PMID:17122126|PMID:17293779|PMID:17359525|PMID:17389490|PMID:17576681|PMID:19096531|PMID:19145250|PMID:19172505|PMID:19672125|PMID:20388642|PMID:20428114|PMID:20671613|PMID:20981092|PMID:21074290|PMID:21217154|PMID:21220178|PMID:21408173|PMID:21613650|PMID:21852022|PMID:22402017|PMID:22708870|PMID:22722621|PMID:22892313|PMID:22995991|PMID:23062601|PMID:24683533|PMID:24908169|PMID:25333069|PMID:25382069|PMID:25741868|PMID:25943890|PMID:26467025|PMID:26503823|PMID:26566915|PMID:26740678|PMID:27485216|PMID:27620379|PMID:28430856|PMID:28492532|PMID:28882891|PMID:29411640|PMID:29525178|PMID:29525180|PMID:29540704|PMID:29895397|PMID:30519240|PMID:30739198|PMID:31108397|PMID:31198474|PMID:31838784|PMID:32028661|PMID:34275688|PMID:36133075|PMID:38852112|PMID:9536098
8809105	Optn	optineurin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
8809105	Optn	optineurin	gene	DOID:9255	frontotemporal dementia		ISO	RGD:736202	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	PMID:25741868|PMID:28492532|PMID:35873773
8809146	Ip6k3	inositol hexakisphosphate kinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1350328	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8809146	Ip6k3	inositol hexakisphosphate kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809146	Ip6k3	inositol hexakisphosphate kinase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8809146	Ip6k3	inositol hexakisphosphate kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8809146	Ip6k3	inositol hexakisphosphate kinase 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1350328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8809166	Slc25a5	solute carrier family 25 member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8809166	Slc25a5	solute carrier family 25 member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8809166	Slc25a5	solute carrier family 25 member 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8809166	Slc25a5	solute carrier family 25 member 5	gene	DOID:1324	lung cancer		ISO	RGD:732042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8809166	Slc25a5	solute carrier family 25 member 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8809166	Slc25a5	solute carrier family 25 member 5	gene	DOID:5041	esophageal cancer		ISO	RGD:732042	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8809166	Slc25a5	solute carrier family 25 member 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8809166	Slc25a5	solute carrier family 25 member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8809166	Slc25a5	solute carrier family 25 member 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8809183	Eml2	EMAP like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8809183	Eml2	EMAP like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8809183	Eml2	EMAP like 2	gene	DOID:1115	sarcoma		ISO	RGD:734198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8809183	Eml2	EMAP like 2	gene	DOID:1324	lung cancer		ISO	RGD:734198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8809183	Eml2	EMAP like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8809183	Eml2	EMAP like 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:734198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8809183	Eml2	EMAP like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:734198	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8809183	Eml2	EMAP like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809183	Eml2	EMAP like 2	gene	DOID:6039	uveal melanoma		ISO	RGD:734198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8809183	Eml2	EMAP like 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:734198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8809183	Eml2	EMAP like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8809183	Eml2	EMAP like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8809209	Nsfl1c	NSFL1 cofactor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8809209	Nsfl1c	NSFL1 cofactor	gene	DOID:10534	stomach cancer		ISO	RGD:734170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8809209	Nsfl1c	NSFL1 cofactor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8809209	Nsfl1c	NSFL1 cofactor	gene	DOID:1324	lung cancer		ISO	RGD:734170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8809209	Nsfl1c	NSFL1 cofactor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:734170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8809209	Nsfl1c	NSFL1 cofactor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8809209	Nsfl1c	NSFL1 cofactor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8809209	Nsfl1c	NSFL1 cofactor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8809233	Zmym1	zinc finger MYM-type containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8809233	Zmym1	zinc finger MYM-type containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8809233	Zmym1	zinc finger MYM-type containing 1	gene	DOID:0060058	lymphoma		ISO	RGD:1315977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8809233	Zmym1	zinc finger MYM-type containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315977	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8809233	Zmym1	zinc finger MYM-type containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1315977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8809233	Zmym1	zinc finger MYM-type containing 1	gene	DOID:1909	melanoma		ISO	RGD:1315977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8809233	Zmym1	zinc finger MYM-type containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8809233	Zmym1	zinc finger MYM-type containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8809233	Zmym1	zinc finger MYM-type containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8809233	Zmym1	zinc finger MYM-type containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8809233	Zmym1	zinc finger MYM-type containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1315977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8809253	Prr14	proline rich 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8809253	Prr14	proline rich 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8809253	Prr14	proline rich 14	gene	DOID:1115	sarcoma		ISO	RGD:1604599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8809253	Prr14	proline rich 14	gene	DOID:1909	melanoma		ISO	RGD:1604599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8809253	Prr14	proline rich 14	gene	DOID:4362	cervical cancer		ISO	RGD:1604599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8809253	Prr14	proline rich 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809276	Ylpm1	YLP motif containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8809276	Ylpm1	YLP motif containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8809276	Ylpm1	YLP motif containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8809276	Ylpm1	YLP motif containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8809276	Ylpm1	YLP motif containing 1	gene	DOID:1909	melanoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8809276	Ylpm1	YLP motif containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8809276	Ylpm1	YLP motif containing 1	gene	DOID:2661	myoepithelioma		ISO	RGD:1351286	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8809276	Ylpm1	YLP motif containing 1	gene	DOID:3275	thymoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8809276	Ylpm1	YLP motif containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8809276	Ylpm1	YLP motif containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8809276	Ylpm1	YLP motif containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8809276	Ylpm1	YLP motif containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1351286	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8809276	Ylpm1	YLP motif containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8809276	Ylpm1	YLP motif containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809276	Ylpm1	YLP motif containing 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
8809276	Ylpm1	YLP motif containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8809276	Ylpm1	YLP motif containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8809276	Ylpm1	YLP motif containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8809302	B3gnt9	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809302	B3gnt9	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1603192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17379860
8809302	B3gnt9	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8809307	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8809307	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:0060058	lymphoma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8809307	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8809307	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8809307	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:1115	sarcoma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8809307	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:1909	melanoma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8809307	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8809307	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8809307	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:3275	thymoma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8809307	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8809307	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809307	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8809307	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8809307	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8809338	Lmo1	LIM domain only 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8809338	Lmo1	LIM domain only 1	gene	DOID:1115	sarcoma		ISO	RGD:1352109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8809338	Lmo1	LIM domain only 1	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1352109	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19246562|PMID:2034676|PMID:3259177
8809338	Lmo1	LIM domain only 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809338	Lmo1	LIM domain only 1	gene	DOID:769	neuroblastoma		ISO	RGD:1352109	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LMO1 POLYMORPHISM	PMID:26560027
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2289739	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1331854	D	RGD:9068941	20220825	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0050777	Joubert syndrome		ISO	RGD:2289739	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28492532|PMID:29165578|PMID:29620724|PMID:30267408|PMID:31680349|PMID:32165824|PMID:32488064|PMID:34906502|PMID:8253763|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0050777	Joubert syndrome		ISO	RGD:2289739	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27854218|PMID:27894351|PMID:28125082|PMID:28492532|PMID:29165578|PMID:29620724|PMID:30267408|PMID:31680349|PMID:32165824|PMID:32488064|PMID:34906502|PMID:8253763|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0050777	Joubert syndrome		ISO	RGD:2289739	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:26062849|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28518168|PMID:29039169|PMID:29146704|PMID:29165578|PMID:29620724|PMID:30055837|PMID:30091983|PMID:30267408|PMID:31618753|PMID:31680349|PMID:31738409|PMID:32165824|PMID:32461654|PMID:32488064|PMID:34182252|PMID:34906502|PMID:8253763|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0050777	Joubert syndrome		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19763152|PMID:19777577|PMID:20307669|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22406018|PMID:22425360|PMID:23012439|PMID:23169490|PMID:23351400|PMID:23692786|PMID:23726790|PMID:24360807|PMID:24706459|PMID:25640679|PMID:25741868|PMID:26003401|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26633542|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27491411|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29146704|PMID:30055837|PMID:30091983|PMID:30267408|PMID:31577543|PMID:31964843|PMID:32005694|PMID:32165824|PMID:32483926|PMID:32488064|PMID:33249554|PMID:33486889|PMID:34182252|PMID:34426522|PMID:34435324|PMID:34645488|PMID:34758253|PMID:34821546|PMID:34906502|PMID:36307859|PMID:36319078|PMID:36468023|PMID:39394465|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0050777	Joubert syndrome		ISO	RGD:2289739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19763152|PMID:19777577|PMID:20307669|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22406018|PMID:22425360|PMID:23012439|PMID:23169490|PMID:23351400|PMID:23692786|PMID:23726790|PMID:24360807|PMID:24706459|PMID:25640679|PMID:25741868|PMID:26003401|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26633542|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27491411|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29146704|PMID:30055837|PMID:30091983|PMID:30267408|PMID:31577543|PMID:31964843|PMID:32005694|PMID:32165824|PMID:32483926|PMID:32488064|PMID:33249554|PMID:33486889|PMID:34182252|PMID:34426522|PMID:34435324|PMID:34645488|PMID:34758253|PMID:34821546|PMID:34906502|PMID:36307859|PMID:36319078|PMID:36468023|PMID:39394465|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0050777	Joubert syndrome		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19763152|PMID:19777577|PMID:20307669|PMID:21068128|PMID:21866095|PMID:22241855|PMID:22406018|PMID:22425360|PMID:23012439|PMID:23169490|PMID:23351400|PMID:23692786|PMID:23726790|PMID:24360807|PMID:24706459|PMID:25640679|PMID:25741868|PMID:26003401|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26633542|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27491411|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29146704|PMID:30055837|PMID:30091983|PMID:30267408|PMID:31577543|PMID:31964843|PMID:32005694|PMID:32165824|PMID:32483926|PMID:33249554|PMID:33486889|PMID:33574475|PMID:34182252|PMID:34426522|PMID:34435324|PMID:34645488|PMID:34758253|PMID:34821546|PMID:34906502|PMID:36307859|PMID:36319078|PMID:36468023|PMID:39394465|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0050778	Meckel syndrome		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Meckel syndrome | ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21866095|PMID:22241855|PMID:23169490|PMID:23351400|PMID:23692786|PMID:23726790|PMID:24360807|PMID:24706459|PMID:25741868|PMID:26003401|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26633542|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27491411|PMID:27894351|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29146704|PMID:30055837|PMID:30091983|PMID:30267408|PMID:31577543|PMID:31964843|PMID:32165824|PMID:32483926|PMID:33486889|PMID:33574475|PMID:34426522|PMID:34435324|PMID:34645488|PMID:34758253|PMID:34821546|PMID:34906502|PMID:36307859|PMID:36319078|PMID:36468023|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0060058	lymphoma		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0060260	ptosis		ISO	RGD:2289739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:19574260|PMID:19777577|PMID:25741868|PMID:28492532|PMID:29146704
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0060320	inguinal hernia		ISO	RGD:2289739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:19574260|PMID:19777577|PMID:25741868|PMID:28492532|PMID:29146704
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0060321	umbilical hernia		ISO	RGD:2289739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:19574260|PMID:19777577|PMID:25741868|PMID:28492532|PMID:29146704
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0060340	ciliopathy		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ciliopathies | ClinVar Annotator: match by term: ciliopathy	PMID:19777577|PMID:21068128|PMID:22241855|PMID:22425360|PMID:23012439|PMID:24706459|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:28492532|PMID:29146704|PMID:30609409|PMID:31618753|PMID:31964843|PMID:32488064|PMID:33084218|PMID:33486889|PMID:34426522|PMID:34448047|PMID:34758253|PMID:36319078|PMID:36788019
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0060668	anencephaly		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anencephaly	PMID:25741868
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0061105	retinitis pigmentosa 93		ISO	RGD:2289739	D	RGD:7240710	20220427	OMIM			
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0061105	retinitis pigmentosa 93		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 93 | ClinVar Annotator: match by term: Retinitis pigmentosa 93	PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21866095|PMID:22241855|PMID:23351400|PMID:23726790|PMID:24706459|PMID:25741868|PMID:26092869|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28492532|PMID:29146704|PMID:30267408|PMID:31964843|PMID:32165824|PMID:32483926|PMID:34645488|PMID:34758253|PMID:36307859|PMID:36319078|PMID:36468023|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome	PMID:16199547|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22246503|PMID:22425360|PMID:23012439|PMID:23351400|PMID:24033266|PMID:24360807|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:26673778|PMID:27081510|PMID:27082236|PMID:27959436|PMID:28125082|PMID:28492532|PMID:31618753|PMID:32488064|PMID:34194672|PMID:3631907
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22246503|PMID:22425360|PMID:23012439|PMID:23351400|PMID:24033266|PMID:24360807|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:26673778|PMID:27081510|PMID:27082236|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28518168|PMID:31618753|PMID:31964843|PMID:32461654|PMID:32488064|PMID:34194672|PMID:3631907|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22246503|PMID:22425360|PMID:23012439|PMID:23351400|PMID:24360807|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:26673778|PMID:27081510|PMID:27082236|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28518168|PMID:29146704|PMID:31618753|PMID:31964843|PMID:32461654|PMID:32488064|PMID:34194672|PMID:3631907|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21866095|PMID:22241855|PMID:23351400|PMID:24360807|PMID:24706459|PMID:25741868|PMID:26003401|PMID:26092869|PMID:26467025|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27491411|PMID:27894351|PMID:28492532|PMID:29146704|PMID:30091983|PMID:30267408|PMID:31577543|PMID:31964843|PMID:32165824|PMID:33486889|PMID:33574475|PMID:34426522|PMID:34435324|PMID:34645488|PMID:34758253|PMID:34821546|PMID:34906502|PMID:36307859|PMID:36319078|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0070120	Meckel syndrome 6		ISO	RGD:2289739	D	RGD:7240710	20180130	OMIM			
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0070120	Meckel syndrome 6		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CC2D2A-related disorder | ClinVar Annotator: match by term: Meckel syndrome 6 | ClinVar Annotator: match by term: Meckel syndrome type 6 | ClinVar Annotator: match by term: Meckel syndrome, type 6	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21866095|PMID:22241855|PMID:23351400|PMID:23726790|PMID:24360807|PMID:24706459|PMID:25741868|PMID:26003401|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27491411|PMID:27894351|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29039169|PMID:29146704|PMID:30055837|PMID:31411728|PMID:31577543|PMID:3196484|PMID:31964843|PMID:32165824|PMID:32483926|PMID:33574475|PMID:34234304|PMID:34426522|PMID:34435324|PMID:34645488|PMID:34758253|PMID:35140360|PMID:36307859|PMID:36319078|PMID:36468023|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0070297	primary microcephaly		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:19777577|PMID:25741868|PMID:28492532|PMID:30091983
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:2289739	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease	PMID:25741868
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0110375	retinitis pigmentosa 40		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 40	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:28492532|PMID:29165578|PMID:29620724|PMID:30267408|PMID:31680349|PMID:32165824|PMID:32488064|PMID:34906502|PMID:8253763|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:18950740|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22425360|PMID:22995991|PMID:23012439|PMID:24033266|PMID:24360807|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26485645|PMID:27081510|PMID:27082236|PMID:28492532|PMID:29165578
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25741868|PMID:26062849|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28518168|PMID:29039169|PMID:29146704|PMID:29620724|PMID:30055837|PMID:30091983|PMID:30267408|PMID:31618753|PMID:31680349|PMID:31738409|PMID:32165824|PMID:32461654|PMID:32488064|PMID:34182252|PMID:34194672|PMID:34906502|PMID:8253763|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19763152|PMID:19777577|PMID:20307669|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22406018|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26003401|PMID:26062849|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26633542|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28518168|PMID:29039169|PMID:29146704|PMID:29620724|PMID:29987673|PMID:30055837|PMID:30091983|PMID:30202406|PMID:30267408|PMID:31130284|PMID:31577543|PMID:31618753|PMID:31680349|PMID:31738409|PMID:31964843|PMID:32165824|PMID:32461654|PMID:32488064|PMID:33486889|PMID:33502066|PMID:34182252|PMID:34194672|PMID:34645488|PMID:34821546|PMID:34906502|PMID:35858853|PMID:3631907|PMID:38259611|PMID:8253763|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19763152|PMID:19777577|PMID:20307669|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22406018|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26003401|PMID:26062849|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26633542|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28518168|PMID:29039169|PMID:29146704|PMID:29620724|PMID:29987673|PMID:30055837|PMID:30091983|PMID:30202406|PMID:30267408|PMID:31130284|PMID:31577543|PMID:31618753|PMID:31680349|PMID:31738409|PMID:31964843|PMID:32005694|PMID:32165824|PMID:32461654|PMID:32488064|PMID:33486889|PMID:33502066|PMID:34182252|PMID:34194672|PMID:34645488|PMID:34821546|PMID:34906502|PMID:35858853|PMID:3631907|PMID:38259611|PMID:8253763|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18387594|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19763152|PMID:19777577|PMID:20307669|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22406018|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26003401|PMID:26062849|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26633542|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28518168|PMID:29039169|PMID:29146704|PMID:29620724|PMID:29987673|PMID:30055837|PMID:30091983|PMID:30202406|PMID:30267408|PMID:30609409|PMID:31130284|PMID:31577543|PMID:31589614|PMID:31618753|PMID:31680349|PMID:31738409|PMID:3196484|PMID:31964843|PMID:32005694|PMID:32165824|PMID:32461654|PMID:32488064|PMID:33084218|PMID:33486889|PMID:33502066|PMID:34182252|PMID:34194672|PMID:34426522|PMID:34448047|PMID:34645488|PMID:34758253|PMID:34821546|PMID:34853893|PMID:34906502|PMID:35858853|PMID:3631907|PMID:36788019|PMID:38259611|PMID:38987663|PMID:8253763|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18387594|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19763152|PMID:19777577|PMID:20307669|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22406018|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26003401|PMID:26062849|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26633542|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28518168|PMID:29039169|PMID:29146704|PMID:29620724|PMID:29987673|PMID:30055837|PMID:30091983|PMID:30202406|PMID:30267408|PMID:30609409|PMID:31130284|PMID:31577543|PMID:31589614|PMID:31618753|PMID:31680349|PMID:31738409|PMID:3196484|PMID:31964843|PMID:32005694|PMID:32165824|PMID:32461654|PMID:32488064|PMID:33084218|PMID:33486889|PMID:33502066|PMID:34182252|PMID:34194672|PMID:34426522|PMID:34448047|PMID:34645488|PMID:34758253|PMID:34821546|PMID:34853893|PMID:34906502|PMID:35858853|PMID:3631907|PMID:36319078|PMID:36788019|PMID:38259611|PMID:38987663|PMID:8253763|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:23351400|PMID:23726790|PMID:24360807|PMID:24706459|PMID:25741868|PMID:26003401|PMID:26092869|PMID:26467025|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27491411|PMID:27894351|PMID:28125082|PMID:28492532|PMID:29146704|PMID:30091983|PMID:30267408|PMID:31577543|PMID:31964843|PMID:32165824|PMID:32488064|PMID:33486889|PMID:34426522|PMID:34435324|PMID:34645488|PMID:34758253|PMID:34821546|PMID:34906502|PMID:36307859|PMID:36319078|PMID:36468023|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21866095|PMID:22241855|PMID:23351400|PMID:23726790|PMID:24360807|PMID:24706459|PMID:25741868|PMID:26003401|PMID:26092869|PMID:26467025|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27491411|PMID:27894351|PMID:28492532|PMID:29146704|PMID:30091983|PMID:30267408|PMID:31577543|PMID:31964843|PMID:32165824|PMID:33486889|PMID:33574475|PMID:34426522|PMID:34435324|PMID:34645488|PMID:34758253|PMID:34821546|PMID:34906502|PMID:36307859|PMID:36319078|PMID:36468023|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0110981	Joubert syndrome 10		ISO	RGD:2289739	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 10	PMID:25741868|PMID:26123494|PMID:34645488|PMID:37644014
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0111004	Joubert syndrome 9		ISO	RGD:2289739	D	RGD:7240710	20180130	OMIM			
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0111004	Joubert syndrome 9		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 9 | ClinVar Annotator: match by term: Joubert syndrome 9 | ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21866095|PMID:22241855|PMID:23351400|PMID:23692786|PMID:23726790|PMID:24706459|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27491411|PMID:27894351|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29146704|PMID:29620724|PMID:30055837|PMID:30091983|PMID:31577543|PMID:31964843|PMID:32165824|PMID:32483926|PMID:33574475|PMID:34426522|PMID:34435324|PMID:34645488|PMID:34758253|PMID:34906502|PMID:36307859|PMID:36319078|PMID:36468023|PMID:38259611|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0111004	Joubert syndrome 9	no_association	ISO	RGD:2289739	D	RGD:9068941	20200609	RGD		DNA:mutations: :multiple	PMID:22241855|REF_RGD_ID:11062645
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0111682	cystic renal dysplasia		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cystic renal dysplasia	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0112072	nuclear type mitochondrial complex I deficiency 20		ISO	RGD:2289739	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20	PMID:19777577|PMID:22241855|PMID:22425360|PMID:23012439|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:26673778|PMID:28492532|PMID:29146704
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:10126	keratoconus		ISO	RGD:2289739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Keratoconus	PMID:19574260|PMID:19777577|PMID:25741868|PMID:28492532|PMID:29146704
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:1059	intellectual disability		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:19777577|PMID:25741868|PMID:28492532|PMID:30091983
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:1059	intellectual disability	no_association	ISO	RGD:2289739	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype: :rs7664843, rs1861044 (human)	PMID:22023432|REF_RGD_ID:11535973
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:10629	microphthalmia		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bilateral microphthalmos	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:10892	hypospadias		ISO	RGD:2289739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:19574260|PMID:19777577|PMID:25741868|PMID:28492532|PMID:29146704
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:10907	microcephaly		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16199547|PMID:19777577|PMID:25741868|PMID:27491411|PMID:28492532|PMID:31577543|PMID:34426522|PMID:34435324
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:1148	polydactyly		ISO	RGD:2289739	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:19466712|PMID:19777577|PMID:25741868|PMID:26092869|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:11782	astigmatism		ISO	RGD:2289739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:19574260|PMID:19777577|PMID:25741868|PMID:28492532|PMID:29146704
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:1324	lung cancer		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:1657	ventricular septal defect		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:1826	epilepsy		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16199547|PMID:18950740|PMID:19777577|PMID:25741868|PMID:26092869|PMID:28492532|PMID:36319078
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:1882	atrial heart septal defect		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:2289739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:19574260|PMID:19777577|PMID:25741868|PMID:28492532|PMID:29146704
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:2975	cystic kidney disease		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:3070	high grade glioma		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:25741868
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:4362	cervical cancer		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:17576681|PMID:18950740|PMID:19777577|PMID:22241855|PMID:25741868|PMID:26092869|PMID:27081510|PMID:27082236|PMID:28492532|PMID:29146704|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:4621	holoprosencephaly		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly sequence	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:2289739	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:5723	optic atrophy		ISO	RGD:2289739	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:6039	uveal melanoma		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:630	genetic disease		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:19574260|PMID:19777577|PMID:22241855|PMID:25741868|PMID:26092869|PMID:26729329|PMID:28492532|PMID:29146704|PMID:32165824|PMID:32483926|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:674	cleft palate		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:8488	polyhydramnios		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532|PMID:34906502
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:8501	fundus dystrophy		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:17576681|PMID:19466712|PMID:19777577|PMID:22241855|PMID:25741868|PMID:26092869|PMID:27894351|PMID:28492532|PMID:29620724|PMID:30202406|PMID:31130284|PMID:3196484|PMID:31964843|PMID:32165824|PMID:33486889|PMID:34645488|PMID:34853893|PMID:36319078|PMID:37853102|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9000495	Tremor		ISO	RGD:2289739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:18950740|PMID:25741868|PMID:26092869|PMID:28492532|PMID:36319078
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9000639	COACH Syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COACH syndrome 1	PMID:18414213|PMID:18950740|PMID:19777577|PMID:21068128|PMID:22241855|PMID:24706459|PMID:25741868|PMID:26092869|PMID:26729329|PMID:27081510|PMID:27082236|PMID:28492532|PMID:29146704|PMID:34758253
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9000983	Encephalocele		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalocele | ClinVar Annotator: match by term: Occipital encephalocele	PMID:16199547|PMID:19777577|PMID:25741868|PMID:26862157|PMID:28492532|PMID:31680349
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9001031	Retrognathia		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9001575	IRIS COLOBOMA		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Iris coloboma	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9003133	Hypertelorism		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:16199547|PMID:19574260|PMID:19777577|PMID:25741868|PMID:28492532|PMID:29146704
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Miscarriage	PMID:19777577|PMID:21866095|PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9003507	Premature Birth		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:2289739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:19574260|PMID:19777577|PMID:25741868|PMID:28492532|PMID:29146704
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9004866	Ataxia		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:19777577|PMID:25741868|PMID:28492532|PMID:30091983
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9005532	Muscle Weakness		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532|PMID:34906502
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532|PMID:34906502
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9006277	COACH Syndrome 2		ISO	RGD:2289739	D	RGD:7240710	20201223	OMIM			
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9006277	COACH Syndrome 2		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COACH syndrome 2	PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21866095|PMID:22241855|PMID:23351400|PMID:23726790|PMID:24706459|PMID:25741868|PMID:26092869|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28492532|PMID:29146704|PMID:31964843|PMID:32165824|PMID:32483926|PMID:34645488|PMID:34758253|PMID:36307859|PMID:36319078|PMID:36468023|PMID:9536098
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9007479	Habitual Abortions		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent spontaneous abortion	PMID:19777577|PMID:21866095|PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9007661	Dwarfism		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9008972	Hyperammonemia		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:25741868
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:2289739	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:936	brain disease		ISO	RGD:2289739	D	RGD:8554872	20230502	ClinVar		ClinVar Annotator: match by term: Encephalopathy | ClinVar Annotator: match by term: Neonatal encephalopathy	PMID:25741868
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9409	diabetes insipidus		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
8809352	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9650	pathologic nystagmus		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:19777577|PMID:28492532
8809409	Jhy	junctional cadherin complex regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8809409	Jhy	junctional cadherin complex regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8809409	Jhy	junctional cadherin complex regulator	gene	DOID:1115	sarcoma		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8809409	Jhy	junctional cadherin complex regulator	gene	DOID:1324	lung cancer		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8809409	Jhy	junctional cadherin complex regulator	gene	DOID:1909	melanoma		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8809409	Jhy	junctional cadherin complex regulator	gene	DOID:3275	thymoma		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8809409	Jhy	junctional cadherin complex regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1605626	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8809409	Jhy	junctional cadherin complex regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809409	Jhy	junctional cadherin complex regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8809409	Jhy	junctional cadherin complex regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8809433	Fam124b	family with sequence similarity 124 member B	gene	DOID:4362	cervical cancer		ISO	RGD:1602681	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8809440	Prelid2	PRELI domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8809440	Prelid2	PRELI domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1606141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8809440	Prelid2	PRELI domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1606141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8809440	Prelid2	PRELI domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1606141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8809440	Prelid2	PRELI domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8809440	Prelid2	PRELI domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809440	Prelid2	PRELI domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8809440	Prelid2	PRELI domain containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8809440	Prelid2	PRELI domain containing 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606141	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
8809451	Ctnnd1	catenin delta 1	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:1313793	D	RGD:9068941	20200609	RGD			PMID:26464646|REF_RGD_ID:11526681
8809451	Ctnnd1	catenin delta 1	gene	DOID:0080346	blepharocheilodontic syndrome 2		ISO	RGD:1313793	D	RGD:7240710	20190315	OMIM			
8809451	Ctnnd1	catenin delta 1	gene	DOID:0080600	COVID-19		ISO	RGD:1313793	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8809451	Ctnnd1	catenin delta 1	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:1305643	D	RGD:9068941	20200924	RGD			PMID:25593290|REF_RGD_ID:38500244
8809451	Ctnnd1	catenin delta 1	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1313793	D	RGD:9068941	20200924	RGD		protein:decreased expression:lung	PMID:25593290|REF_RGD_ID:38500244
8809451	Ctnnd1	catenin delta 1	gene	DOID:9006102	Right Ventricular Hypertrophy	treatment	ISO	RGD:1305643	D	RGD:9068941	20200924	RGD			PMID:25593290|REF_RGD_ID:38500244
8809508	Lrch2	leucine rich repeats and calponin homology domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8809508	Lrch2	leucine rich repeats and calponin homology domain containing 2	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1354195	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:35351988
8809508	Lrch2	leucine rich repeats and calponin homology domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8809508	Lrch2	leucine rich repeats and calponin homology domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1354195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8809508	Lrch2	leucine rich repeats and calponin homology domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1354195	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8809508	Lrch2	leucine rich repeats and calponin homology domain containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8809508	Lrch2	leucine rich repeats and calponin homology domain containing 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1354195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8809508	Lrch2	leucine rich repeats and calponin homology domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8809508	Lrch2	leucine rich repeats and calponin homology domain containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1354195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8809551	Rrp36	ribosomal RNA processing 36	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8809551	Rrp36	ribosomal RNA processing 36	gene	DOID:4362	cervical cancer		ISO	RGD:1317478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8809551	Rrp36	ribosomal RNA processing 36	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809551	Rrp36	ribosomal RNA processing 36	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8809551	Rrp36	ribosomal RNA processing 36	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8809579	Tpd52l2	TPD52 like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8809579	Tpd52l2	TPD52 like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8809579	Tpd52l2	TPD52 like 2	gene	DOID:1115	sarcoma		ISO	RGD:1352243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8809579	Tpd52l2	TPD52 like 2	gene	DOID:1324	lung cancer		ISO	RGD:1352243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer, somatic	
8809579	Tpd52l2	TPD52 like 2	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1352243	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
8809579	Tpd52l2	TPD52 like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1352243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8809579	Tpd52l2	TPD52 like 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8809579	Tpd52l2	TPD52 like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8809579	Tpd52l2	TPD52 like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1352243	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8809579	Tpd52l2	TPD52 like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809579	Tpd52l2	TPD52 like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8809579	Tpd52l2	TPD52 like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:0050336	hypophosphatemia		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypophosphatemia	PMID:10332035|PMID:10679946|PMID:11438998|PMID:11745997|PMID:11855933|PMID:12357339|PMID:1409720|PMID:15671102|PMID:17719863|PMID:18925618|PMID:19232125|PMID:19500388|PMID:20301329|PMID:20739387|PMID:23688511|PMID:24569605|PMID:25731960|PMID:25741868|PMID:26467025|PMID:27699270|PMID:27998428|PMID:28401263|PMID:28436937|PMID:28492532|PMID:28580391|PMID:29236161|PMID:29264574|PMID:29774402|PMID:31400546|PMID:31600233|PMID:31760938|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33069919|PMID:33093890|PMID:33101980|PMID:33549410|PMID:34258332|PMID:34633109|PMID:34662886|PMID:35878747|PMID:36097602|PMID:36444396|PMID:37600704|PMID:38702915|PMID:38884565|PMID:38933926|PMID:39983296|PMID:40794449
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:0060343	glucocorticoid-induced osteoporosis		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glucocorticoid-induced osteoporosis	PMID:25741868|PMID:28492532|PMID:30680361
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:24022022|PMID:25741868|PMID:28492532|PMID:32160374
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:0110913	adult hypophosphatasia		ISO	RGD:1346147	D	RGD:7240710	20180130	OMIM			
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:0110913	adult hypophosphatasia		ISO	RGD:1346147	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adult hypophosphatasia	PMID:10094560|PMID:10332035|PMID:10397525|PMID:10508980|PMID:10679946|PMID:11438998|PMID:11479741|PMID:11547844|PMID:11745997|PMID:11760847|PMID:11855933|PMID:12162492|PMID:12357339|PMID:12412800|PMID:12815606|PMID:1409720|PMID:15135428|PMID:15137467|PMID:15660230|PMID:15671102|PMID:15694177|PMID:16199547|PMID:16583935|PMID:17212778|PMID:17213282|PMID:17253930|PMID:17576681|PMID:17719863|PMID:17916236|PMID:17922851|PMID:18340466|PMID:18455459|PMID:18559907|PMID:18769927|PMID:18925618|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20049532|PMID:20301329|PMID:20739387|PMID:21713987|PMID:21956185|PMID:22014174|PMID:22300680|PMID:22397652|PMID:23093139|PMID:23454488|PMID:23688511|PMID:24022022|PMID:24145968|PMID:24276437|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25731960|PMID:25736332|PMID:25741868|PMID:26432670|PMID:26467025|PMID:26783040|PMID:27179278|PMID:27699270|PMID:27777120|PMID:27920814|PMID:27998428|PMID:28127875|PMID:28401263|PMID:28436937|PMID:28492532|PMID:28580391|PMID:28663156|PMID:29159075|PMID:29236161|PMID:29246529|PMID:29264574|PMID:29504586|PMID:29724887|PMID:29774402|PMID:30049651|PMID:30249491|PMID:30283886|PMID:30283912|PMID:30508915|PMID:30655187|PMID:30680361|PMID:30788858|PMID:31014398|PMID:31088113|PMID:31178256|PMID:31267001|PMID:31400546|PMID:31485555|PMID:31600233|PMID:31636198|PMID:31641588|PMID:31687651|PMID:31707452|PMID:3174660|PMID:31754721|PMID:31760938|PMID:31857675|PMID:32066479|PMID:32088736|PMID:32112990|PMID:32160374|PMID:32309015|PMID:32390219|PMID:32714398|PMID:32762706|PMID:32811521|PMID:32973344|PMID:33069919|PMID:33093890|PMID:33101980|PMID:33191482|PMID:33301960|PMID:33391183|PMID:33404770|PMID:33549410|PMID:33579333|PMID:33601892|PMID:33742171|PMID:33814268|PMID:33827627|PMID:33942288|PMID:34000433|PMID:34189384|PMID:34213743|PMID:34258332|PMID:34633109|PMID:34662886|PMID:35320273|PMID:35878747|PMID:36097602|PMID:36361766|PMID:36444396|PMID:37076969|PMID:37422472|PMID:37600704|PMID:38702915|PMID:38884565|PMID:38933926|PMID:39252126|PMID:39333051|PMID:39506814|PMID:39519277|PMID:39983296|PMID:40794449|PMID:7833929|PMID:8675582|PMID:8954059|PMID:9452105|PMID:9536098|PMID:9781036|PMID:9814472|PMID:9844100
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:0110914	infantile hypophosphatasia		ISO	RGD:1346147	D	RGD:7240710	20180130	OMIM			
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:0110914	infantile hypophosphatasia		ISO	RGD:1346147	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Infantile hypophosphatasia	PMID:10094560|PMID:10332035|PMID:10397525|PMID:10508980|PMID:10679946|PMID:10834525|PMID:10872988|PMID:11438998|PMID:11479741|PMID:11745997|PMID:11760847|PMID:11855933|PMID:11999978|PMID:12162492|PMID:12230456|PMID:12357339|PMID:12412800|PMID:12815606|PMID:12920074|PMID:1409720|PMID:15137467|PMID:15660230|PMID:15671102|PMID:15694177|PMID:16199547|PMID:17212778|PMID:17213282|PMID:17253930|PMID:17576681|PMID:17719863|PMID:17916236|PMID:17922851|PMID:18328985|PMID:18340466|PMID:18455459|PMID:18559907|PMID:18925618|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20049532|PMID:20301329|PMID:20739387|PMID:21168482|PMID:21342251|PMID:21713987|PMID:21956185|PMID:22397652|PMID:22913777|PMID:23454488|PMID:23688511|PMID:23791648|PMID:24145968|PMID:24276437|PMID:24334170|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25525159|PMID:25716980|PMID:25731960|PMID:25741868|PMID:25958132|PMID:25982064|PMID:26432670|PMID:26467025|PMID:26783040|PMID:27312557|PMID:27699270|PMID:27777120|PMID:27920814|PMID:27998428|PMID:28127875|PMID:28401263|PMID:28436937|PMID:28492532|PMID:28580391|PMID:28663156|PMID:28763161|PMID:28802630|PMID:28939177|PMID:29159075|PMID:29236161|PMID:29264574|PMID:29504586|PMID:29724887|PMID:29760218|PMID:29774402|PMID:30049651|PMID:30249491|PMID:30283886|PMID:30283912|PMID:30655187|PMID:30680361|PMID:30788858|PMID:30924900|PMID:31014398|PMID:31077853|PMID:31088113|PMID:31178256|PMID:31267001|PMID:31400546|PMID:31485555|PMID:31600233|PMID:31636198|PMID:31641588|PMID:31687651|PMID:31707452|PMID:3174660|PMID:31754721|PMID:31760938|PMID:31857675|PMID:32066479|PMID:32088736|PMID:32112990|PMID:32160374|PMID:32200022|PMID:32309015|PMID:32351759|PMID:32390219|PMID:32714398|PMID:32762706|PMID:32811521|PMID:32973344|PMID:32987199|PMID:33032557|PMID:33069919|PMID:33093890|PMID:33101980|PMID:33191482|PMID:33240318|PMID:33301960|PMID:33391183|PMID:33404770|PMID:33442022|PMID:33549410|PMID:33579333|PMID:33601892|PMID:33814268|PMID:33827627|PMID:33942288|PMID:34000433|PMID:34097127|PMID:34164522|PMID:34189384|PMID:34213743|PMID:34258332|PMID:34557487|PMID:34633109|PMID:34662886|PMID:35197081|PMID:35320273|PMID:35878747|PMID:36097602|PMID:36361766|PMID:36427976|PMID:36444396|PMID:37076969|PMID:37147467|PMID:37351650|PMID:37422472|PMID:37600704|PMID:38591765|PMID:38702915|PMID:38884565|PMID:38933926|PMID:39252126|PMID:39333051|PMID:39450343|PMID:39506814|PMID:39519277|PMID:39983296|PMID:40794449|PMID:7833929|PMID:8675582|PMID:8954059|PMID:9452105|PMID:9536098|PMID:9781036|PMID:9814472|PMID:9844100
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:0110915	childhood hypophosphatasia		ISO	RGD:1346147	D	RGD:7240710	20180130	OMIM			
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:0110915	childhood hypophosphatasia		ISO	RGD:1346147	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Childhood hypophosphatasia	PMID:10094560|PMID:10332035|PMID:10397525|PMID:10679946|PMID:11438998|PMID:11479741|PMID:11745997|PMID:11760847|PMID:11855933|PMID:12162492|PMID:12357339|PMID:12412800|PMID:12815606|PMID:1409720|PMID:15137467|PMID:15660230|PMID:15671102|PMID:15694177|PMID:16199547|PMID:17212778|PMID:17253930|PMID:17576681|PMID:17719863|PMID:17916236|PMID:18340466|PMID:18455459|PMID:18559907|PMID:18925618|PMID:19232125|PMID:19500388|PMID:20049532|PMID:20301329|PMID:20739387|PMID:21956185|PMID:22397652|PMID:23454488|PMID:23688511|PMID:24145968|PMID:24276437|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25731960|PMID:25741868|PMID:26432670|PMID:26467025|PMID:27699270|PMID:27777120|PMID:27920814|PMID:27998428|PMID:28127875|PMID:28401263|PMID:28436937|PMID:28492532|PMID:28580391|PMID:28663156|PMID:28763161|PMID:29159075|PMID:29236161|PMID:29264574|PMID:29504586|PMID:29724887|PMID:29774402|PMID:30049651|PMID:30249491|PMID:30283886|PMID:30655187|PMID:30680361|PMID:30788858|PMID:31014398|PMID:31088113|PMID:31178256|PMID:31400546|PMID:31485555|PMID:31600233|PMID:31636198|PMID:31687651|PMID:31707452|PMID:3174660|PMID:31754721|PMID:31760938|PMID:31857675|PMID:32088736|PMID:32160374|PMID:32309015|PMID:32390219|PMID:32714398|PMID:32762706|PMID:32811521|PMID:32879991|PMID:32973344|PMID:33069919|PMID:33093890|PMID:33101980|PMID:33191482|PMID:33301960|PMID:33391183|PMID:33404770|PMID:33549410|PMID:33579333|PMID:33601892|PMID:33814268|PMID:33827627|PMID:33942288|PMID:34000433|PMID:34189384|PMID:34213743|PMID:34258332|PMID:34633109|PMID:34662886|PMID:35878747|PMID:36097602|PMID:36361766|PMID:36444396|PMID:37076969|PMID:37422472|PMID:37600704|PMID:38702915|PMID:38884565|PMID:38933926|PMID:39252126|PMID:39333051|PMID:39506814|PMID:39519277|PMID:39983296|PMID:40794449|PMID:7833929|PMID:8675582|PMID:8954059|PMID:9452105|PMID:9536098|PMID:9781036|PMID:9814472|PMID:9844100
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:10573	osteomalacia		ISO	RGD:1346147	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Osteomalacia	PMID:25741868|PMID:28492532|PMID:32160374|PMID:39333051|PMID:39983296
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:1115	sarcoma		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:11162	respiratory failure		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure | ClinVar Annotator: match by term: Respiratory insufficiency	PMID:24022022|PMID:25741868|PMID:28492532|PMID:32160374
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:11476	osteoporosis		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:10679946|PMID:15135428|PMID:17719863|PMID:19500388|PMID:25736332|PMID:25741868|PMID:28492532|PMID:29724887|PMID:3174660|PMID:32973344|PMID:33069919|PMID:33191482|PMID:33814268|PMID:35320273|PMID:35878747|PMID:36361766|PMID:37600704|PMID:39333051
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:118	pericardial effusion		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pericardial effusion	PMID:10332035|PMID:10679946|PMID:11438998|PMID:11855933|PMID:12357339|PMID:1409720|PMID:15671102|PMID:17719863|PMID:19232125|PMID:19500388|PMID:20301329|PMID:20739387|PMID:23688511|PMID:24569605|PMID:25731960|PMID:25741868|PMID:28492532|PMID:29236161|PMID:29774402|PMID:31600233|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33093890|PMID:33101980|PMID:33549410|PMID:34258332|PMID:36097602|PMID:37600704|PMID:38933926
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:11832	visual epilepsy		ISO	RGD:1346147	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:27466191|PMID:7550313
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1346147	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:10094560|PMID:10332035|PMID:10679946|PMID:10839996|PMID:11438998|PMID:11479741|PMID:11855933|PMID:12357339|PMID:12412800|PMID:12638946|PMID:1409720|PMID:15300736|PMID:15660230|PMID:15671102|PMID:15694177|PMID:16769381|PMID:17229666|PMID:17253930|PMID:17719863|PMID:18523927|PMID:18559907|PMID:18769927|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20089612|PMID:20739387|PMID:21228398|PMID:21956185|PMID:22014174|PMID:22397652|PMID:22913777|PMID:22995991|PMID:23791648|PMID:24022022|PMID:24033266|PMID:24276437|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25731960|PMID:25741868|PMID:26272126|PMID:26432670|PMID:26467025|PMID:26783040|PMID:27884173|PMID:27920814|PMID:28127875|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28663156|PMID:29159075|PMID:29236161|PMID:29354166|PMID:30283912|PMID:30576866|PMID:31707452|PMID:32066479|PMID:32160374|PMID:8406453|PMID:8954059|PMID:9618260|PMID:9781036|PMID:9814472
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1346147	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:10094560|PMID:10332035|PMID:10636450|PMID:10679946|PMID:10839996|PMID:11395499|PMID:11438998|PMID:11479741|PMID:11855933|PMID:12357339|PMID:12412800|PMID:12638946|PMID:1409720|PMID:15300736|PMID:15660230|PMID:15671102|PMID:15694177|PMID:16769381|PMID:17229666|PMID:17253930|PMID:17395561|PMID:17719863|PMID:18523927|PMID:18559907|PMID:18769927|PMID:18925618|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20089612|PMID:20301329|PMID:20739387|PMID:21228398|PMID:21956185|PMID:22014174|PMID:22397652|PMID:22913777|PMID:22995991|PMID:23688511|PMID:23791648|PMID:24022022|PMID:24033266|PMID:24276437|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25731960|PMID:25741868|PMID:26272126|PMID:26432670|PMID:26467025|PMID:26783040|PMID:27884173|PMID:27920814|PMID:28127875|PMID:28401263|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28663156|PMID:28881669|PMID:29159075|PMID:29236161|PMID:29354166|PMID:30049651|PMID:30138938|PMID:30283912|PMID:30576866|PMID:30655187|PMID:30680361|PMID:30719581|PMID:30788858|PMID:31485555|PMID:31600233|PMID:31641588|PMID:31666285|PMID:31707452|PMID:31793067|PMID:32066479|PMID:32160374|PMID:32779619|PMID:32803091|PMID:32811521|PMID:32973344|PMID:33549410|PMID:33814268|PMID:33852075|PMID:34097127|PMID:34213743|PMID:34515659|PMID:34627339|PMID:34662886|PMID:34712267|PMID:34854399|PMID:35068125|PMID:36097602|PMID:36352425|PMID:36444396|PMID:8406453|PMID:8954059|PMID:9618260|PMID:9781036|PMID:9814472
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1346147	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:10332035|PMID:10679946|PMID:11438998|PMID:11760847|PMID:11855933|PMID:12357339|PMID:1409720|PMID:15671102|PMID:15694177|PMID:17253930|PMID:17395561|PMID:17719863|PMID:18559907|PMID:19232125|PMID:19500388|PMID:20301329|PMID:20739387|PMID:21956185|PMID:22397652|PMID:23688511|PMID:24276437|PMID:24378058|PMID:24569605|PMID:25731960|PMID:25741868|PMID:26432670|PMID:26467025|PMID:28017821|PMID:28492532|PMID:28663156|PMID:29236161|PMID:29774402|PMID:30283886|PMID:30924900|PMID:31600233|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33093890|PMID:33101980|PMID:33549410|PMID:34011663|PMID:34097127|PMID:34258332|PMID:34935951|PMID:36097602|PMID:37600704|PMID:38933926|PMID:39983296
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:12361	Graves' disease		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Graves disease	PMID:10332035|PMID:10679946|PMID:11438998|PMID:11855933|PMID:12357339|PMID:1409720|PMID:15671102|PMID:17719863|PMID:19232125|PMID:19500388|PMID:20301329|PMID:20739387|PMID:23688511|PMID:24569605|PMID:25731960|PMID:25741868|PMID:28492532|PMID:29236161|PMID:29774402|PMID:31600233|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33093890|PMID:33101980|PMID:33549410|PMID:34258332|PMID:36097602|PMID:37600704|PMID:38933926
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:12466	secondary hyperparathyroidism		ISO	RGD:1346147	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22373954
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:12721	multiple epiphyseal dysplasia		ISO	RGD:1346147	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	PMID:12162492|PMID:25741868|PMID:27920814|PMID:28492532|PMID:32160374|PMID:33579333|PMID:34000433|PMID:37600704|PMID:39506814|PMID:7833929|PMID:9844100
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:12849	autistic disorder		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:10679946|PMID:11438998|PMID:11855933|PMID:18559907|PMID:19232125|PMID:19500388|PMID:20089612|PMID:20301329|PMID:25731960|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28580391|PMID:29236161|PMID:29774402|PMID:30283912|PMID:30576866|PMID:31707452|PMID:32811521|PMID:33549410|PMID:33814268|PMID:38884565
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:12849	autistic disorder		ISO	RGD:1346147	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Autism	PMID:10679946|PMID:11438998|PMID:11855933|PMID:18559907|PMID:19232125|PMID:19500388|PMID:20089612|PMID:20301329|PMID:21713987|PMID:25731960|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28580391|PMID:29236161|PMID:29354166|PMID:29774402|PMID:30283912|PMID:30576866|PMID:31707452|PMID:32811521|PMID:33549410|PMID:33814268|PMID:38884565
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:1324	lung cancer		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:13543	hyperparathyroidism		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperparathyroidism	PMID:10332035|PMID:10679946|PMID:11438998|PMID:11855933|PMID:12357339|PMID:1409720|PMID:15671102|PMID:17719863|PMID:19232125|PMID:19500388|PMID:20301329|PMID:20739387|PMID:23688511|PMID:24569605|PMID:25731960|PMID:25741868|PMID:28492532|PMID:29236161|PMID:29774402|PMID:31600233|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33093890|PMID:33101980|PMID:33549410|PMID:34258332|PMID:36097602|PMID:37600704|PMID:38933926
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:13809	familial combined hyperlipidemia		ISO	RGD:1346147	D	RGD:9068941	20200609	RGD			PMID:16336518|REF_RGD_ID:1601173
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:14213	hypophosphatasia		ISO	RGD:1346147	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALPL-related disorder | ClinVar Annotator: match by term: Decreased circulating alkaline phosphatase activity | ClinVar Annotator: match by term: Hypophosphatasia | ClinVar Annotator: match by term: Semidominant ALPL-related disorders	PMID:10094560|PMID:10332035|PMID:10397525|PMID:10495141|PMID:10508980|PMID:10636450|PMID:10679946|PMID:10690885|PMID:10737975|PMID:10834525|PMID:10839996|PMID:10872988|PMID:11395499|PMID:11438998|PMID:11479741|PMID:11547844|PMID:11745997|PMID:11760847|PMID:11802776|PMID:11810413|PMID:11834095|PMID:11855933|PMID:11999978|PMID:12162492|PMID:12230456|PMID:12357339|PMID:12412800|PMID:12499779|PMID:12674323|PMID:12815606|PMID:12920074|PMID:12944372|PMID:1409720|PMID:15135428|PMID:15137467|PMID:15300736|PMID:15629439|PMID:15660230|PMID:15671102|PMID:15694177|PMID:15794757|PMID:15840803|PMID:16199547|PMID:16583935|PMID:16769381|PMID:17212778|PMID:17213282|PMID:17229666|PMID:17238218|PMID:17241478|PMID:17253930|PMID:17384481|PMID:17395561|PMID:17409132|PMID:17519318|PMID:17576681|PMID:17719863|PMID:17916236|PMID:17922851|PMID:18328985|PMID:18340466|PMID:18422967|PMID:18455459|PMID:18523927|PMID:18559907|PMID:18769927|PMID:18821074|PMID:18925618|PMID:18937943|PMID:19232125|PMID:19263084|PMID:19335222|PMID:19446101|PMID:19500388|PMID:19940865|PMID:20049532|PMID:20089612|PMID:20301329|PMID:20383509|PMID:20739387|PMID:20828673|PMID:20924064|PMID:21168482|PMID:21342251|PMID:21419245|PMID:21713987|PMID:21956185|PMID:22014174|PMID:22266140|PMID:22322541|PMID:22394703|PMID:22397652|PMID:22703652|PMID:22781519|PMID:22913777|PMID:23039266|PMID:23093139|PMID:23454488|PMID:23509830|PMID:23580367|PMID:23688511|PMID:23791648|PMID:23926372|PMID:24022022|PMID:24033266|PMID:24100244|PMID:24145968|PMID:24276437|PMID:24334170|PMID:24378058|PMID:24569605|PMID:24863959|PMID:25023282|PMID:25100374|PMID:25186178|PMID:25525159|PMID:25731960|PMID:25736332|PMID:25741868|PMID:26219717|PMID:26274329|PMID:26275891|PMID:26432670|PMID:26459154|PMID:26467025|PMID:26783040|PMID:26797772|PMID:26896157|PMID:26992955|PMID:27042741|PMID:27086862|PMID:27179278|PMID:27312557|PMID:27342130|PMID:27680481|PMID:27699270|PMID:27777120|PMID:27920814|PMID:27998428|PMID:28000043|PMID:28017821|PMID:28127875|PMID:28326335|PMID:28374482|PMID:28401263|PMID:28436937|PMID:28492532|PMID:28506345|PMID:28547134|PMID:28580391|PMID:28586049|PMID:28663156|PMID:28749478|PMID:28763161|PMID:28802630|PMID:28881669|PMID:29159075|PMID:29160033|PMID:29168297|PMID:29236161|PMID:29264574|PMID:29354166|PMID:29388226|PMID:29405938|PMID:29504586|PMID:29620724|PMID:29709501|PMID:29724887|PMID:29774402|PMID:29808151|PMID:30049651|PMID:30083035|PMID:30138938|PMID:30202780|PMID:30249491|PMID:30283886|PMID:30283912|PMID:30293248|PMID:30446691|PMID:30508901|PMID:30508915|PMID:30555565|PMID:30655187|PMID:30680361|PMID:30719581|PMID:30755392|PMID:30788858|PMID:30825650|PMID:30864637|PMID:30929401|PMID:30975772|PMID:30979366|PMID:31000369|PMID:31014398|PMID:31077853|PMID:31088113|PMID:31146036|PMID:31178256|PMID:31267001|PMID:31400546|PMID:31485555|PMID:31489468|PMID:31600233|PMID:31636198|PMID:31641588|PMID:31687651|PMID:31707452|PMID:3174660|PMID:31754721|PMID:31760938|PMID:31787692|PMID:31793067|PMID:31857675|PMID:31905439|PMID:32066479|PMID:32088736|PMID:32112990|PMID:32160374|PMID:32200022|PMID:32309015|PMID:32351759|PMID:32390219|PMID:32547926|PMID:32572521|PMID:32694888|PMID:32714398|PMID:32752906|PMID:32758526|PMID:32762706|PMID:32772198|PMID:32779619|PMID:32803091|PMID:32811521|PMID:32879991|PMID:32956941|PMID:32973344|PMID:32981126|PMID:32983894|PMID:32987199|PMID:33032557|PMID:33069919|PMID:33093890|PMID:33101980|PMID:33160095|PMID:33191482|PMID:33255631|PMID:33299629|PMID:33301960|PMID:33391183|PMID:33404770|PMID:33446953|PMID:33452237|PMID:33549410|PMID:33579333|PMID:33601892|PMID:33777089|PMID:33814268|PMID:33821301|PMID:33827627|PMID:33852075|PMID:33937142|PMID:33942288|PMID:33977024|PMID:34000433|PMID:34011663|PMID:34033304|PMID:34097127|PMID:34131769|PMID:34154874|PMID:34164522|PMID:34189384|PMID:34213743|PMID:34258332|PMID:34498693|PMID:34515659|PMID:34551461|PMID:34627339|PMID:34633109|PMID:34662886|PMID:34673643|PMID:34712267|PMID:34906475|PMID:34924504|PMID:34935951|PMID:35068125
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:14213	hypophosphatasia		ISO	RGD:1346147	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALPL-related disorder | ClinVar Annotator: match by term: Decreased circulating alkaline phosphatase activity | ClinVar Annotator: match by term: Hypophosphatasia | ClinVar Annotator: match by term: Semidominant ALPL-related disorders	PMID:35197081|PMID:35241128|PMID:35252483|PMID:35320273|PMID:35498405|PMID:35726512|PMID:35878747|PMID:35986118|PMID:36007526|PMID:36053890|PMID:36097602|PMID:36352425|PMID:36361766|PMID:36398383|PMID:36444396|PMID:36514157|PMID:36553293|PMID:36613725|PMID:36708496|PMID:36820543|PMID:37076969|PMID:37107680|PMID:37118032|PMID:37147467|PMID:37351650|PMID:37362163|PMID:37422472|PMID:37600704|PMID:37731773|PMID:37885183|PMID:37898381|PMID:37900931|PMID:37993691|PMID:38130758|PMID:38234425|PMID:38283708|PMID:38310522|PMID:38374822|PMID:38523854|PMID:38591765|PMID:38702915|PMID:38884565|PMID:38895587|PMID:38933926|PMID:39102795|PMID:39135540|PMID:39224569|PMID:39252126|PMID:39333051|PMID:39450343|PMID:39502852|PMID:39506814|PMID:39519277|PMID:39685776|PMID:39873011|PMID:39880615|PMID:39925621|PMID:39926094|PMID:39983296|PMID:40000791|PMID:40035361|PMID:40386289|PMID:40794449|PMID:41018175|PMID:7833929|PMID:8406453|PMID:8675582|PMID:8954059|PMID:9452105|PMID:9536098|PMID:9562633|PMID:9747027|PMID:9781036|PMID:9814472|PMID:9844100
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:14213	hypophosphatasia	susceptibility	ISO	RGD:1346147	D	RGD:9068941	20200609	RGD			PMID:8406453|REF_RGD_ID:1599076
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:1459	hypothyroidism		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:10332035|PMID:10679946|PMID:11438998|PMID:11855933|PMID:12357339|PMID:1409720|PMID:15671102|PMID:17719863|PMID:19232125|PMID:19500388|PMID:20301329|PMID:20739387|PMID:23688511|PMID:24569605|PMID:25731960|PMID:25741868|PMID:28492532|PMID:29236161|PMID:29774402|PMID:31600233|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33093890|PMID:33101980|PMID:33549410|PMID:34258332|PMID:36097602|PMID:37600704|PMID:38933926
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:1596	depressive disorder		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:10679946|PMID:19500388|PMID:20301329|PMID:23688511|PMID:25731960|PMID:25741868|PMID:28492532|PMID:3174660|PMID:32973344|PMID:33814268
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:182	calcinosis		ISO	RGD:1346147	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21193197
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:2030	anxiety disorder		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:10679946|PMID:19500388|PMID:20301329|PMID:23688511|PMID:25731960|PMID:25741868|PMID:28492532|PMID:3174660|PMID:32973344|PMID:33814268
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1346147	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:24022022|PMID:25741868|PMID:28492532|PMID:32160374
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:2340	craniosynostosis		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:25741868|PMID:33937142|PMID:38884565
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:2349	arteriosclerosis		ISO	RGD:1346147	D	RGD:9068941	20200609	RGD		protein:decrease expression:serum	PMID:17010978|REF_RGD_ID:1601172
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:409	liver disease		ISO	RGD:1346147	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:423	myopathy		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:10332035|PMID:10679946|PMID:11438998|PMID:11855933|PMID:12357339|PMID:1409720|PMID:15671102|PMID:17719863|PMID:19232125|PMID:19500388|PMID:20301329|PMID:20739387|PMID:23688511|PMID:24569605|PMID:25731960|PMID:25741868|PMID:28492532|PMID:29236161|PMID:29774402|PMID:31600233|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33093890|PMID:33101980|PMID:33549410|PMID:34258332|PMID:36097602|PMID:37600704|PMID:38933926
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:4362	cervical cancer		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:4667	kyphosis		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:12162492|PMID:25741868|PMID:27920814|PMID:28492532|PMID:32160374|PMID:33579333|PMID:34000433|PMID:37600704|PMID:39506814|PMID:7833929|PMID:9844100
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:4676	uremia		ISO	RGD:2100	D	RGD:9068941	20200609	RGD		protein:increased expression:aorta	PMID:18288101|REF_RGD_ID:2315619
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:10679946|PMID:16199547|PMID:28492532|PMID:3174660|PMID:32973344|PMID:33814268
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:630	genetic disease		ISO	RGD:1346147	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10332035|PMID:10679946|PMID:11438998|PMID:11745997|PMID:11855933|PMID:12357339|PMID:1409720|PMID:15671102|PMID:16199547|PMID:17719863|PMID:19232125|PMID:19500388|PMID:20301329|PMID:20739387|PMID:21713987|PMID:21956185|PMID:23454488|PMID:23688511|PMID:24569605|PMID:25731960|PMID:25741868|PMID:26467025|PMID:27042741|PMID:28401263|PMID:28492532|PMID:28580391|PMID:29236161|PMID:29774402|PMID:30249491|PMID:30283886|PMID:30924900|PMID:31600233|PMID:31636198|PMID:31641588|PMID:3174660|PMID:32160374|PMID:32694888|PMID:32803091|PMID:32811521|PMID:32973344|PMID:33093890|PMID:33101980|PMID:33191482|PMID:33549410|PMID:33579333|PMID:33601892|PMID:33814268|PMID:34258332|PMID:34935951|PMID:35878747|PMID:36097602|PMID:36361766|PMID:37076969|PMID:37600704|PMID:38884565|PMID:38933926|PMID:39252126|PMID:39983296|PMID:9781036
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:6364	migraine		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: migraines	PMID:25741868|PMID:28492532
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:65	connective tissue disease		ISO	RGD:1346147	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1346147	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:25741868|PMID:28492532|PMID:30680361
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:824	periodontitis		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:10332035|PMID:10679946|PMID:11438998|PMID:11855933|PMID:12357339|PMID:1409720|PMID:15671102|PMID:17719863|PMID:19232125|PMID:19500388|PMID:20301329|PMID:20739387|PMID:23688511|PMID:24569605|PMID:25731960|PMID:25741868|PMID:28492532|PMID:29236161|PMID:29774402|PMID:31600233|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33093890|PMID:33101980|PMID:33549410|PMID:34258332|PMID:36097602|PMID:37600704|PMID:38933926
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:8432	polycythemia		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycythemia	PMID:15135428|PMID:17719863|PMID:25736332|PMID:28492532|PMID:32973344|PMID:33069919|PMID:35878747|PMID:36361766|PMID:39333051
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:848	arthritis		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthritis	PMID:11745997|PMID:18925618|PMID:19232125|PMID:19500388|PMID:23688511|PMID:25731960|PMID:25741868|PMID:26467025|PMID:27699270|PMID:27998428|PMID:28401263|PMID:28436937|PMID:28492532|PMID:28580391|PMID:29236161|PMID:29264574|PMID:31400546|PMID:31760938|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33069919|PMID:33549410|PMID:34258332|PMID:34633109|PMID:34662886|PMID:35878747|PMID:36444396|PMID:38702915|PMID:38884565|PMID:39983296|PMID:40794449
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux disease	PMID:25741868|PMID:38234425
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:870	neuropathy		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:11745997|PMID:18925618|PMID:19232125|PMID:19500388|PMID:23688511|PMID:25731960|PMID:25741868|PMID:26467025|PMID:27699270|PMID:27998428|PMID:28401263|PMID:28436937|PMID:28492532|PMID:28580391|PMID:29236161|PMID:29264574|PMID:31400546|PMID:31760938|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33069919|PMID:33549410|PMID:34258332|PMID:34633109|PMID:34662886|PMID:35878747|PMID:36444396|PMID:38702915|PMID:38884565|PMID:39983296|PMID:40794449
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:8719	in situ carcinoma		ISO	RGD:1346147	D	RGD:9068941	20200609	RGD		associated with Testicular Neoplasms;protein:increased expression:testis	PMID:10547581|REF_RGD_ID:2315616
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:10332035|PMID:10679946|PMID:11438998|PMID:11855933|PMID:12357339|PMID:1409720|PMID:15671102|PMID:17719863|PMID:19232125|PMID:19500388|PMID:20301329|PMID:20739387|PMID:23688511|PMID:24569605|PMID:25731960|PMID:25741868|PMID:28492532|PMID:29236161|PMID:29774402|PMID:31600233|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33093890|PMID:33101980|PMID:33549410|PMID:34258332|PMID:36097602|PMID:37600704|PMID:38933926
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:1346147	D	RGD:9068941	20200609	RGD		protein:increased expression:testis	PMID:10547581|REF_RGD_ID:2315616
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9000727	Syncope		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:10332035|PMID:10679946|PMID:11438998|PMID:11855933|PMID:12357339|PMID:1409720|PMID:15671102|PMID:17719863|PMID:19232125|PMID:19500388|PMID:20301329|PMID:20739387|PMID:23688511|PMID:24569605|PMID:25731960|PMID:25741868|PMID:28492532|PMID:29236161|PMID:29774402|PMID:31600233|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33093890|PMID:33101980|PMID:33549410|PMID:34258332|PMID:36097602|PMID:37600704|PMID:38933926
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:2100	D	RGD:9068941	20200609	RGD			PMID:17403193|REF_RGD_ID:1601171
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhabdomyolysis	PMID:10332035|PMID:10679946|PMID:11438998|PMID:11855933|PMID:12357339|PMID:1409720|PMID:15671102|PMID:17719863|PMID:19232125|PMID:19500388|PMID:20301329|PMID:20739387|PMID:23688511|PMID:24569605|PMID:25731960|PMID:25741868|PMID:28492532|PMID:29236161|PMID:29774402|PMID:31600233|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33093890|PMID:33101980|PMID:33549410|PMID:34258332|PMID:36097602|PMID:37600704|PMID:38933926
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9000927	Alveolar Bone Loss		ISO	RGD:1346147	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20630305
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:2100	D	RGD:9068941	20230720	RGD		associated with hypertension, periodontal disease	PMID:33364953|REF_RGD_ID:329956421
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9000929	Hallux Rigidus		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux rigidus	PMID:15135428|PMID:17719863|PMID:25736332|PMID:28492532|PMID:32973344|PMID:33069919|PMID:35878747|PMID:36361766|PMID:39333051
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:37362163|PMID:38884565
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9001292	Odontohypophosphatasia		ISO	RGD:1346147	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: ODONTOHYPOPHOSPHATASIA | ClinVar Annotator: match by term: Odontohypophosphatasia	PMID:10094560|PMID:10332035|PMID:10679946|PMID:11438998|PMID:11479741|PMID:11855933|PMID:12357339|PMID:12920074|PMID:1409720|PMID:15671102|PMID:17719863|PMID:18340466|PMID:18925618|PMID:19232125|PMID:19500388|PMID:20301329|PMID:20739387|PMID:23688511|PMID:24569605|PMID:25731960|PMID:25741868|PMID:25982064|PMID:28492532|PMID:28663156|PMID:29236161|PMID:29774402|PMID:30655187|PMID:31485555|PMID:31600233|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33069919|PMID:33093890|PMID:33101980|PMID:33549410|PMID:34258332|PMID:35878747|PMID:36097602|PMID:37600704|PMID:38933926|PMID:8675582
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9001467	Livedo Reticularis		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Livedo reticularis	PMID:10332035|PMID:10679946|PMID:11438998|PMID:11855933|PMID:12357339|PMID:1409720|PMID:15671102|PMID:17719863|PMID:19232125|PMID:19500388|PMID:20301329|PMID:20739387|PMID:23688511|PMID:24569605|PMID:25731960|PMID:25741868|PMID:28492532|PMID:29236161|PMID:29774402|PMID:31600233|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33093890|PMID:33101980|PMID:33549410|PMID:34258332|PMID:36097602|PMID:37600704|PMID:38933926
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9001738	Hypercalciuria		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercalciuria	PMID:25741868|PMID:37600704
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	PMID:10332035|PMID:10679946|PMID:11438998|PMID:11855933|PMID:12357339|PMID:1409720|PMID:15671102|PMID:17719863|PMID:19232125|PMID:19500388|PMID:20301329|PMID:20739387|PMID:23688511|PMID:24569605|PMID:25731960|PMID:25741868|PMID:28492532|PMID:29236161|PMID:29774402|PMID:31600233|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33093890|PMID:33101980|PMID:33549410|PMID:34258332|PMID:36097602|PMID:37600704|PMID:38933926
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1346147	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25741868|PMID:28492532|PMID:32160374|PMID:33601892|PMID:36444396|PMID:39333051|PMID:39983296
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9002589	Bone Fractures		ISO	RGD:1346147	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bone fracture	PMID:15135428|PMID:17719863|PMID:25736332|PMID:25741868|PMID:28492532|PMID:32160374|PMID:32973344|PMID:33069919|PMID:35878747|PMID:36361766|PMID:39333051|PMID:39983296
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9003004	MICROMELIA		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micromelia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9003760	Myalgia		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia | ClinVar Annotator: match by term: myalgia	PMID:10332035|PMID:10679946|PMID:11438998|PMID:11855933|PMID:12357339|PMID:1409720|PMID:15135428|PMID:15671102|PMID:17719863|PMID:19232125|PMID:19500388|PMID:20089612|PMID:20301329|PMID:20739387|PMID:23688511|PMID:24569605|PMID:25731960|PMID:25736332|PMID:25741868|PMID:28492532|PMID:29236161|PMID:29774402|PMID:31600233|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33069919|PMID:33093890|PMID:33101980|PMID:33549410|PMID:34258332|PMID:35878747|PMID:36097602|PMID:36361766|PMID:37600704|PMID:38234425|PMID:38933926|PMID:39333051
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9004649	Heat Stroke		ISO	RGD:1346147	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16878031
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9004919	Perinatal Lethal Hypophosphatasia		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Perinatal lethal hypophosphatasia	PMID:10679946|PMID:11745997|PMID:16199547|PMID:18925618|PMID:19232125|PMID:19500388|PMID:23454488|PMID:23688511|PMID:25731960|PMID:25741868|PMID:26467025|PMID:27699270|PMID:27998428|PMID:28401263|PMID:28436937|PMID:28492532|PMID:28580391|PMID:29236161|PMID:29264574|PMID:30249491|PMID:30283886|PMID:31400546|PMID:3174660|PMID:31760938|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33069919|PMID:33101980|PMID:33549410|PMID:33601892|PMID:33814268|PMID:34258332|PMID:34633109|PMID:34662886|PMID:35878747|PMID:36444396|PMID:38702915|PMID:38884565|PMID:39252126|PMID:39983296|PMID:40794449|PMID:9781036
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1346147	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:28127875|PMID:28492532|PMID:32160374
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:32762706
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9006065	Arthralgia		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: arthralgia	PMID:25741868|PMID:28492532|PMID:37107680
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1346147	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27466191
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9006590	Chondrocalcinosis 2		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: calcium pyrophosphate dihydrate deposition disease	PMID:24276437|PMID:25741868|PMID:28436937|PMID:28492532|PMID:29774402|PMID:31000369|PMID:32160374|PMID:33191482|PMID:33549410
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9006617	Fatigue		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:10332035|PMID:10679946|PMID:11438998|PMID:11855933|PMID:12357339|PMID:1409720|PMID:15135428|PMID:15671102|PMID:17719863|PMID:19232125|PMID:19500388|PMID:20301329|PMID:20739387|PMID:23688511|PMID:24569605|PMID:25731960|PMID:25736332|PMID:25741868|PMID:28492532|PMID:29236161|PMID:29774402|PMID:31600233|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33069919|PMID:33093890|PMID:33101980|PMID:33549410|PMID:34258332|PMID:35878747|PMID:36097602|PMID:36361766|PMID:37600704|PMID:38933926|PMID:39333051
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9006646	Metabolic Syndrome	susceptibility	ISO	RGD:1346147	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16249437|REF_RGD_ID:1601174
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9007618	Multiple Fractures		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: multiple fractures	PMID:25741868|PMID:37600704
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9007661	Dwarfism		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insulin resistance	PMID:10332035|PMID:10679946|PMID:11438998|PMID:11855933|PMID:12357339|PMID:1409720|PMID:15671102|PMID:17719863|PMID:19232125|PMID:19500388|PMID:20301329|PMID:20739387|PMID:23688511|PMID:24569605|PMID:25731960|PMID:25741868|PMID:28492532|PMID:29236161|PMID:29774402|PMID:31600233|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33093890|PMID:33101980|PMID:33549410|PMID:34258332|PMID:36097602|PMID:37600704|PMID:38933926
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9007763	Flushing		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Flushing	PMID:10332035|PMID:10679946|PMID:11438998|PMID:11855933|PMID:12357339|PMID:1409720|PMID:15671102|PMID:17719863|PMID:19232125|PMID:19500388|PMID:20301329|PMID:20739387|PMID:23688511|PMID:24569605|PMID:25731960|PMID:25741868|PMID:28492532|PMID:29236161|PMID:29774402|PMID:31600233|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33093890|PMID:33101980|PMID:33549410|PMID:34258332|PMID:36097602|PMID:37600704|PMID:38933926
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9007923	Back Pain		ISO	RGD:1346147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Back pain	PMID:11745997|PMID:18925618|PMID:19232125|PMID:19500388|PMID:23688511|PMID:25731960|PMID:25741868|PMID:26467025|PMID:27699270|PMID:27998428|PMID:28401263|PMID:28436937|PMID:28492532|PMID:28580391|PMID:29236161|PMID:29264574|PMID:31400546|PMID:31760938|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33069919|PMID:33549410|PMID:34258332|PMID:34633109|PMID:34662886|PMID:35878747|PMID:36444396|PMID:37107680|PMID:38702915|PMID:38884565|PMID:39983296|PMID:40794449
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9007923	Back Pain		ISO	RGD:1346147	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Back pain	PMID:11745997|PMID:18925618|PMID:19232125|PMID:19500388|PMID:23688511|PMID:25731960|PMID:25741868|PMID:26467025|PMID:27699270|PMID:27998428|PMID:28401263|PMID:28436937|PMID:28492532|PMID:28580391|PMID:29236161|PMID:29264574|PMID:31400546|PMID:31760938|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33069919|PMID:33549410|PMID:34258332|PMID:34633109|PMID:34662886|PMID:35878747|PMID:36444396|PMID:38702915|PMID:38884565|PMID:39983296|PMID:40794449
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1346147	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868|PMID:28436937|PMID:28492532|PMID:29774402|PMID:38884565
8809632	Alpl	alkaline phosphatase, biomineralization associated	gene	DOID:9452	steatotic liver disease		ISO	RGD:1346147	D	RGD:9068941	20200609	RGD		associated with obesity	PMID:16197789|REF_RGD_ID:1601177
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:0050117	disease by infectious agent		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:0050567	orofacial cleft		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip/palate	
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:0060260	ptosis		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:0110214	cleft soft palate		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft soft palate	PMID:25741868
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:10283	prostate cancer		ISO	RGD:733485	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland (human)	PMID:19401687|REF_RGD_ID:10054425
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:10300	Raynaud disease		ISO	RGD:733485	D	RGD:9068941	20221007	RGD			PMID:25172934|REF_RGD_ID:155260370
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:1059	intellectual disability		ISO	RGD:733485	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:11088	asphyxia neonatorum	treatment	ISO	RGD:71058	D	RGD:9068941	20221013	RGD			PMID:33951501|REF_RGD_ID:155269042
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:11383	cryptorchidism		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:12849	autistic disorder		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:1324	lung cancer		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:1909	melanoma		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:2340	craniosynostosis		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trigonocephaly	PMID:25741868
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:2394	ovarian cancer		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:733486	D	RGD:9068941	20200609	RGD		protein:decreased expression:lumbar spinal cord ventral horn, astrocyte (mouse)	PMID:19323997|REF_RGD_ID:10058964
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:4667	kyphosis		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:25741868
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:630	genetic disease		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:36130591
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:9000612	Cardiac Allograft Vasculopathy		ISO	RGD:733485	D	RGD:9068941	20221007	RGD			PMID:21489814|REF_RGD_ID:155260371
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:9001581	Constipation		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:9002234	Pituitary Neoplasms		ISO	RGD:71058	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:pituitary gland (rat)	PMID:12716410|REF_RGD_ID:10058970
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:9002304	Prostatic Neoplasms	disease_progression	ISO	RGD:733486	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland (mouse)	PMID:22015967|REF_RGD_ID:10054424
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:9002916	Hyperphagia		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	PMID:25741868
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:9003837	Au-Kline Syndrome		ISO	RGD:733485	D	RGD:7240710	20180130	OMIM			
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:9003837	Au-Kline Syndrome		ISO	RGD:733485	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AU-KLINE SYNDROME | ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar Annotator: match by term: HNRNPK-related condition | ClinVar Annotator: match by term: Okamoto syndrome	PMID:18414213|PMID:25741868|PMID:26173930|PMID:26954065|PMID:28374925|PMID:28492532|PMID:33874999|PMID:36130591
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:9004538	Hearing Loss		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:71058	D	RGD:9068941	20200609	RGD			PMID:16837467|REF_RGD_ID:10002795
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:9007573	Flatfoot		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:9008682	Velopharyngeal Insufficiency		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Velopharyngeal insufficiency	PMID:25741868
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733485	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:733485	D	RGD:9068941	20200609	RGD		protein:increased expression:colonic epithelium, cytoplasm (human)	PMID:21194727|REF_RGD_ID:9999439
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:936	brain disease		ISO	RGD:733485	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Neonatal encephalopathy	PMID:25741868|PMID:26173930|PMID:26954065|PMID:28492532
8809666	Hnrnpk	heterogeneous nuclear ribonucleoprotein K	gene	DOID:9840	esotropia		ISO	RGD:733485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868
8809700	Tspan12	tetraspanin 12	gene	DOID:0050535	exudative vitreoretinopathy		ISO	RGD:1322379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial exudative vitreoretinopathy	PMID:25250762|PMID:25741868
8809700	Tspan12	tetraspanin 12	gene	DOID:0060844	Norrie disease		ISO	RGD:1322379	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Atrophia bulborum hereditaria	PMID:25250762|PMID:25741868
8809700	Tspan12	tetraspanin 12	gene	DOID:0111408	exudative vitreoretinopathy 5		ISO	RGD:1322379	D	RGD:7240710	20180130	OMIM			
8809700	Tspan12	tetraspanin 12	gene	DOID:0111408	exudative vitreoretinopathy 5		ISO	RGD:1322379	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EXUDATIVE VITREORETINOPATHY 5 | ClinVar Annotator: match by term: Exudative vitreoretinopathy 5 | ClinVar Annotator: match by term: TSPAN12-related condition	PMID:20159111|PMID:20159112|PMID:21334594|PMID:21552475|PMID:22427576|PMID:25250762|PMID:25352738|PMID:25741868|PMID:28002565|PMID:28492532|PMID:28494495|PMID:31106028|PMID:31987760|PMID:33907885|PMID:34738848|PMID:34828430|PMID:36729443
8809700	Tspan12	tetraspanin 12	gene	DOID:5679	retinal disease		ISO	RGD:1322379	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:26244290|PMID:28492532|PMID:30452590|PMID:33090715|PMID:33907885|PMID:35876299
8809700	Tspan12	tetraspanin 12	gene	DOID:5723	optic atrophy		ISO	RGD:1322379	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8809700	Tspan12	tetraspanin 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809700	Tspan12	tetraspanin 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322379	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8809700	Tspan12	tetraspanin 12	gene	DOID:630	genetic disease		ISO	RGD:1322379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8809700	Tspan12	tetraspanin 12	gene	DOID:8501	fundus dystrophy		ISO	RGD:1322379	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:17576681|PMID:20159112|PMID:21334594|PMID:25741868|PMID:27316669|PMID:28492532|PMID:9536098
8809700	Tspan12	tetraspanin 12	gene	DOID:9002174	Disease Susceptibility		ISO	RGD:1322379	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20130021
8809700	Tspan12	tetraspanin 12	gene	DOID:9005204	Persistent Hyperplastic Primary Vitreous, Autosomal Recessive		ISO	RGD:1322379	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive	PMID:25250762|PMID:25741868
8809700	Tspan12	tetraspanin 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8809712	Sfmbt2	Scm like with four mbt domains 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8809712	Sfmbt2	Scm like with four mbt domains 2	gene	DOID:1115	sarcoma		ISO	RGD:1312812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8809712	Sfmbt2	Scm like with four mbt domains 2	gene	DOID:1324	lung cancer		ISO	RGD:1312812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8809712	Sfmbt2	Scm like with four mbt domains 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8809712	Sfmbt2	Scm like with four mbt domains 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312812	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8809712	Sfmbt2	Scm like with four mbt domains 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8809712	Sfmbt2	Scm like with four mbt domains 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809712	Sfmbt2	Scm like with four mbt domains 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8809741	Grin3a	glutamate ionotropic receptor NMDA type subunit 3A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8809741	Grin3a	glutamate ionotropic receptor NMDA type subunit 3A	gene	DOID:0051062	ischemic stroke	treatment	ISO	RGD:621704	D	RGD:9068941	20260416	RGD		associated with middle cerebral artery infarction	PMID:23251573|REF_RGD_ID:645122587
8809741	Grin3a	glutamate ionotropic receptor NMDA type subunit 3A	gene	DOID:0060001	withdrawal disorder	treatment	ISO	RGD:621704	D	RGD:9068941	20260416	RGD		associated with cocaine dependence	PMID:34413203|REF_RGD_ID:645122584
8809741	Grin3a	glutamate ionotropic receptor NMDA type subunit 3A	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:621704	D	RGD:9068941	20260411	RGD		mRNA:decreased expression:prefrontal cortex	PMID:26048425|REF_RGD_ID:645122576
8809741	Grin3a	glutamate ionotropic receptor NMDA type subunit 3A	gene	DOID:1324	lung cancer		ISO	RGD:733376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8809741	Grin3a	glutamate ionotropic receptor NMDA type subunit 3A	gene	DOID:1875	impotence		ISO	RGD:733376	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19295509
8809741	Grin3a	glutamate ionotropic receptor NMDA type subunit 3A	gene	DOID:2316	brain ischemia		ISO	RGD:621704	D	RGD:9068941	20260416	RGD		mRNA, protein:increased expression:hippocampus, prefrontal cortex	PMID:23883441|REF_RGD_ID:645122591
8809741	Grin3a	glutamate ionotropic receptor NMDA type subunit 3A	gene	DOID:2661	myoepithelioma		ISO	RGD:733376	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8809741	Grin3a	glutamate ionotropic receptor NMDA type subunit 3A	gene	DOID:3275	thymoma		ISO	RGD:733376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8809741	Grin3a	glutamate ionotropic receptor NMDA type subunit 3A	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:621704	D	RGD:9068941	20260423	RGD			PMID:24141895|PMID:30072177|REF_RGD_ID:645123312|REF_RGD_ID:645123315
8809741	Grin3a	glutamate ionotropic receptor NMDA type subunit 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809741	Grin3a	glutamate ionotropic receptor NMDA type subunit 3A	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:621704	D	RGD:9068941	20260423	RGD		mRNA:increased expression:caudal part of spinal trigeminal nucleus	PMID:24206074|REF_RGD_ID:645123314
8809741	Grin3a	glutamate ionotropic receptor NMDA type subunit 3A	gene	DOID:9002669	Hypoxia		ISO	RGD:621704	D	RGD:9068941	20260418	RGD		mRNA, protein:increased expression:periventricular white matter	PMID:21319220|REF_RGD_ID:645123309
8809741	Grin3a	glutamate ionotropic receptor NMDA type subunit 3A	gene	DOID:9002669	Hypoxia		ISO	RGD:621704	D	RGD:9068941	20260418	RGD		protein:decreased expression:hippocampus	PMID:30928461|REF_RGD_ID:645123307
8809741	Grin3a	glutamate ionotropic receptor NMDA type subunit 3A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8809741	Grin3a	glutamate ionotropic receptor NMDA type subunit 3A	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:621704	D	RGD:9068941	20260411	RGD		associated with obesity	PMID:38028990|REF_RGD_ID:645122571
8809753	Glipr2	GLI pathogenesis related 2	gene	DOID:3498	pancreatic ductal adenocarcinoma	disease_progression	ISO	RGD:1316497	D	RGD:9068941	20220303	RGD		protein:decreased expression:blood (human)	PMID:32663515|REF_RGD_ID:151660329
8809753	Glipr2	GLI pathogenesis related 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8809753	Glipr2	GLI pathogenesis related 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1316497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8809753	Glipr2	GLI pathogenesis related 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8809753	Glipr2	GLI pathogenesis related 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8809766	Syndig1	synapse differentiation inducing 1	gene	DOID:1115	sarcoma		ISO	RGD:1321842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8809766	Syndig1	synapse differentiation inducing 1	gene	DOID:1324	lung cancer		ISO	RGD:1321842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8809766	Syndig1	synapse differentiation inducing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8809766	Syndig1	synapse differentiation inducing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1321842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8809766	Syndig1	synapse differentiation inducing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8809766	Syndig1	synapse differentiation inducing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8809774	Gstm4	glutathione S-transferase mu 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8809774	Gstm4	glutathione S-transferase mu 4	gene	DOID:1115	sarcoma		ISO	RGD:1606334	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8809774	Gstm4	glutathione S-transferase mu 4	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1606334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15964507
8809774	Gstm4	glutathione S-transferase mu 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8809774	Gstm4	glutathione S-transferase mu 4	gene	DOID:3275	thymoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8809774	Gstm4	glutathione S-transferase mu 4	gene	DOID:4362	cervical cancer		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8809774	Gstm4	glutathione S-transferase mu 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8809774	Gstm4	glutathione S-transferase mu 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8809774	Gstm4	glutathione S-transferase mu 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809774	Gstm4	glutathione S-transferase mu 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8809774	Gstm4	glutathione S-transferase mu 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8809774	Gstm4	glutathione S-transferase mu 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8809774	Gstm4	glutathione S-transferase mu 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1606334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8809774	Gstm4	glutathione S-transferase mu 4	gene	DOID:9007661	Dwarfism	treatment	ISO	RGD:1557217	D	RGD:9068941	20251030	RGD			PMID:24285747|REF_RGD_ID:629006517
8809774	Gstm4	glutathione S-transferase mu 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8809794	Secisbp2l	SECIS binding protein 2 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8809794	Secisbp2l	SECIS binding protein 2 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8809794	Secisbp2l	SECIS binding protein 2 like	gene	DOID:10534	stomach cancer		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8809794	Secisbp2l	SECIS binding protein 2 like	gene	DOID:1115	sarcoma		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8809794	Secisbp2l	SECIS binding protein 2 like	gene	DOID:1909	melanoma		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8809794	Secisbp2l	SECIS binding protein 2 like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8809794	Secisbp2l	SECIS binding protein 2 like	gene	DOID:3070	high grade glioma		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8809794	Secisbp2l	SECIS binding protein 2 like	gene	DOID:4362	cervical cancer		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8809794	Secisbp2l	SECIS binding protein 2 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809794	Secisbp2l	SECIS binding protein 2 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8809794	Secisbp2l	SECIS binding protein 2 like	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1605418	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28604730
8809794	Secisbp2l	SECIS binding protein 2 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8809794	Secisbp2l	SECIS binding protein 2 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8809794	Secisbp2l	SECIS binding protein 2 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8809824	Atp5f1d	ATP synthase F1 subunit delta	gene	DOID:0060180	colitis	treatment	ISO	RGD:621372	D	RGD:9068941	20200609	RGD			PMID:23840258|REF_RGD_ID:13792680
8809824	Atp5f1d	ATP synthase F1 subunit delta	gene	DOID:0070463	mitochondrial complex V (ATP synthase) deficiency nuclear type 5		ISO	RGD:1353040	D	RGD:7240710	20190315	OMIM			
8809824	Atp5f1d	ATP synthase F1 subunit delta	gene	DOID:0070463	mitochondrial complex V (ATP synthase) deficiency nuclear type 5		ISO	RGD:1353040	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: ATP5F1D-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5	PMID:25741868|PMID:28492532|PMID:29478781
8809824	Atp5f1d	ATP synthase F1 subunit delta	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1353040	D	RGD:9068941	20200609	RGD			PMID:28474567|REF_RGD_ID:13792588
8809824	Atp5f1d	ATP synthase F1 subunit delta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26039340
8809824	Atp5f1d	ATP synthase F1 subunit delta	gene	DOID:1115	sarcoma		ISO	RGD:1353040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8809824	Atp5f1d	ATP synthase F1 subunit delta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809824	Atp5f1d	ATP synthase F1 subunit delta	gene	DOID:5844	myocardial infarction		ISO	RGD:621372	D	RGD:9068941	20200609	RGD		protein:decreased expression:myocardium (rat)	PMID:29300489|REF_RGD_ID:13792656
8809824	Atp5f1d	ATP synthase F1 subunit delta	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:621372	D	RGD:9068941	20200609	RGD			PMID:23809007|REF_RGD_ID:13792681
8809824	Atp5f1d	ATP synthase F1 subunit delta	gene	DOID:630	genetic disease		ISO	RGD:1353040	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8809824	Atp5f1d	ATP synthase F1 subunit delta	gene	DOID:9000815	Aortic Calcification	treatment	ISO	RGD:621372	D	RGD:9068941	20200609	RGD		associated with Hypercholesterolemia	PMID:26047104|REF_RGD_ID:11057945
8809824	Atp5f1d	ATP synthase F1 subunit delta	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:621372	D	RGD:9068941	20200609	RGD			PMID:25880160|REF_RGD_ID:13792672
8809824	Atp5f1d	ATP synthase F1 subunit delta	gene	DOID:9004616	Left Ventricular Hypertrophy	treatment	ISO	RGD:621372	D	RGD:9068941	20200609	RGD			PMID:25738576|REF_RGD_ID:13792675
8809824	Atp5f1d	ATP synthase F1 subunit delta	gene	DOID:9007755	Intestinal Reperfusion Injury	treatment	ISO	RGD:621372	D	RGD:9068941	20200609	RGD			PMID:24232000|REF_RGD_ID:13792678
8809824	Atp5f1d	ATP synthase F1 subunit delta	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:621372	D	RGD:9068941	20200609	RGD		protein:decreased expression:myocardium (rat)	PMID:25305180|REF_RGD_ID:13792676
8809824	Atp5f1d	ATP synthase F1 subunit delta	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:621372	D	RGD:9068941	20200609	RGD			PMID:26109848|REF_RGD_ID:13792666
8809824	Atp5f1d	ATP synthase F1 subunit delta	gene	DOID:9970	obesity	treatment	ISO	RGD:621372	D	RGD:9068941	20200609	RGD			PMID:27874268|REF_RGD_ID:13792665
8809824	Atp5f1d	ATP synthase F1 subunit delta	gene	DOID:9993	hypoglycemia		ISO	RGD:1353040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:29478781
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:0080000	muscular disease		ISO	RGD:1322904	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239484
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:0081268	pulmonary venoocclusive disease 1		ISO	RGD:1322904	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1	PMID:24033266
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:0081269	pulmonary venoocclusive disease 2		ISO	RGD:1322904	D	RGD:7240710	20180130	OMIM			
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:0081269	pulmonary venoocclusive disease 2		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis | ClinVar Annotator: match by term: PULMONARY VENOOCCLUSIVE DISEASE 2 | ClinVar Annotator: match by term: Pulmonary venoocclusive disease 2	PMID:12215525|PMID:24135949|PMID:24292273|PMID:24310610|PMID:25512148|PMID:25741868|PMID:27684876|PMID:28492532|PMID:28972005|PMID:29631995|PMID:29743074|PMID:30285736|PMID:30679663|PMID:31711431|PMID:32581362|PMID:36451176
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:1909	melanoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:2914	immune system disease		ISO	RGD:1322904	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239484
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:421	hair disease		ISO	RGD:1322904	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239484
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1322904	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:5453	pulmonary venoocclusive disease		ISO	RGD:1322904	D	RGD:9068941	20200903	RGD		protein:decreased expression:lung	PMID:32209028|REF_RGD_ID:38549370
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:5453	pulmonary venoocclusive disease		ISO	RGD:1322904	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:24292273
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:5453	pulmonary venoocclusive disease	disease_progression	ISO	RGD:1311439	D	RGD:9068941	20200903	RGD			PMID:32209028|REF_RGD_ID:38549370
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:28492532
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:630	genetic disease		ISO	RGD:1322904	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1322904	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:24292273
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1322904	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:12215525|PMID:24135949|PMID:24292273|PMID:24310610|PMID:25741868|PMID:28492532|PMID:28972005|PMID:29743074|PMID:32581362
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8809845	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:1322904	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239484
8809888	Igf2bp3	insulin like growth factor 2 mRNA binding protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8809888	Igf2bp3	insulin like growth factor 2 mRNA binding protein 3	gene	DOID:0070297	primary microcephaly		ISO	RGD:1606570	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: primary microcephaly	PMID:25741868
8809888	Igf2bp3	insulin like growth factor 2 mRNA binding protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1606570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8809888	Igf2bp3	insulin like growth factor 2 mRNA binding protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1606570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8809888	Igf2bp3	insulin like growth factor 2 mRNA binding protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1606570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8809888	Igf2bp3	insulin like growth factor 2 mRNA binding protein 3	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1606570	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:23621518
8809888	Igf2bp3	insulin like growth factor 2 mRNA binding protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809888	Igf2bp3	insulin like growth factor 2 mRNA binding protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606570	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8809888	Igf2bp3	insulin like growth factor 2 mRNA binding protein 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606570	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8809888	Igf2bp3	insulin like growth factor 2 mRNA binding protein 3	gene	DOID:9001834	Peritoneal Neoplasms		ISO	RGD:1606570	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23621518
8809888	Igf2bp3	insulin like growth factor 2 mRNA binding protein 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8809888	Igf2bp3	insulin like growth factor 2 mRNA binding protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8809888	Igf2bp3	insulin like growth factor 2 mRNA binding protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8809888	Igf2bp3	insulin like growth factor 2 mRNA binding protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8809921	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8809921	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:0050776	non-syndromic X-linked intellectual disability		ISO	RGD:1350342	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability	PMID:25741868
8809921	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8809921	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:1115	sarcoma		ISO	RGD:1350342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8809921	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1350342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8809921	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:1909	melanoma		ISO	RGD:1350342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8809921	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350342	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8809921	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809921	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1350342	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
8809921	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:37841849
8809921	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1350342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8809921	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8809962	Ccdc28a	coiled-coil domain containing 28A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8809962	Ccdc28a	coiled-coil domain containing 28A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351078	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8809962	Ccdc28a	coiled-coil domain containing 28A	gene	DOID:10534	stomach cancer		ISO	RGD:1351078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8809962	Ccdc28a	coiled-coil domain containing 28A	gene	DOID:2661	myoepithelioma		ISO	RGD:1351078	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8809962	Ccdc28a	coiled-coil domain containing 28A	gene	DOID:3275	thymoma		ISO	RGD:1351078	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8809962	Ccdc28a	coiled-coil domain containing 28A	gene	DOID:4362	cervical cancer		ISO	RGD:1351078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8809962	Ccdc28a	coiled-coil domain containing 28A	gene	DOID:5041	esophageal cancer		ISO	RGD:1351078	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8809962	Ccdc28a	coiled-coil domain containing 28A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809962	Ccdc28a	coiled-coil domain containing 28A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8809962	Ccdc28a	coiled-coil domain containing 28A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8809979	Vcpip1	valosin containing protein interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8809979	Vcpip1	valosin containing protein interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1604797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8809979	Vcpip1	valosin containing protein interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1604797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8809979	Vcpip1	valosin containing protein interacting protein 1	gene	DOID:3911	progeria		ISO	RGD:1552825	D	RGD:9068941	20220825	MouseDO		OMIM:176670	
8809979	Vcpip1	valosin containing protein interacting protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8809979	Vcpip1	valosin containing protein interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604797	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8809979	Vcpip1	valosin containing protein interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809979	Vcpip1	valosin containing protein interacting protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8809979	Vcpip1	valosin containing protein interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8809986	Capn10	calpain 10	gene	DOID:10534	stomach cancer		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8809986	Capn10	calpain 10	gene	DOID:1059	intellectual disability		ISO	RGD:732443	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
8809986	Capn10	calpain 10	gene	DOID:10965	spastic diplegia		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	
8809986	Capn10	calpain 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8809986	Capn10	calpain 10	gene	DOID:1115	sarcoma		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8809986	Capn10	calpain 10	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:732443	D	RGD:9068941	20260521	RGD		DNA:SNPs	PMID:17106059|REF_RGD_ID:1625046
8809986	Capn10	calpain 10	gene	DOID:1324	lung cancer		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8809986	Capn10	calpain 10	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:732443	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs3792267 (human)	PMID:20178008|REF_RGD_ID:4107073
8809986	Capn10	calpain 10	gene	DOID:1909	melanoma		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8809986	Capn10	calpain 10	gene	DOID:1969	cerebral palsy		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
8809986	Capn10	calpain 10	gene	DOID:4362	cervical cancer		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8809986	Capn10	calpain 10	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8809986	Capn10	calpain 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8809986	Capn10	calpain 10	gene	DOID:630	genetic disease		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8809986	Capn10	calpain 10	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69354	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:22012129|REF_RGD_ID:7247733
8809986	Capn10	calpain 10	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8809986	Capn10	calpain 10	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69354	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:kidney cortex	PMID:22568896|REF_RGD_ID:7247732
8809986	Capn10	calpain 10	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:732443	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:16546286|REF_RGD_ID:1625050
8809986	Capn10	calpain 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8809986	Capn10	calpain 10	gene	DOID:9007279	Type 2 Diabetes Mellitus 1		ISO	RGD:732443	D	RGD:7240710	20180130	OMIM			
8809986	Capn10	calpain 10	gene	DOID:9007279	Type 2 Diabetes Mellitus 1		ISO	RGD:732443	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CAPN10-related condition | ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, 1 | ClinVar Annotator: match by term: TYPE 2 DIABETES MELLITUS 1, SUSCEPTIBILITY TO	PMID:11017071|PMID:16721485|PMID:25741868|PMID:25773692|PMID:28492532
8809986	Capn10	calpain 10	gene	DOID:9007692	Insulin Resistance		ISO	RGD:732443	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs3792267 (human)	PMID:11018080|REF_RGD_ID:7247736
8809986	Capn10	calpain 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8809986	Capn10	calpain 10	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69354	D	RGD:9068941	20200609	RGD		DNA:SNP	PMID:14658759|REF_RGD_ID:737693
8809986	Capn10	calpain 10	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69354	D	RGD:9068941	20200609	RGD		mRNA:decreased expression	PMID:14646187|REF_RGD_ID:1625063
8809986	Capn10	calpain 10	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732443	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23349674
8809986	Capn10	calpain 10	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732443	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs2975760 (human)	PMID:18554168|REF_RGD_ID:7247735
8809986	Capn10	calpain 10	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732443	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:16721485|REF_RGD_ID:1625049
8809986	Capn10	calpain 10	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732443	D	RGD:9068941	20200609	RGD		associated with Hypertension;DNA:SNPs:intron:rs3792267, rs2975760 (human)	PMID:20406624|REF_RGD_ID:7247734
8809986	Capn10	calpain 10	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732443	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas	PMID:19688040|REF_RGD_ID:4107074
8809986	Capn10	calpain 10	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736979	D	RGD:9068941	20200609	RGD			PMID:22012129|REF_RGD_ID:7247733
8809986	Capn10	calpain 10	gene	DOID:9970	obesity		ISO	RGD:732443	D	RGD:9068941	20200609	RGD		DNA:SNPs	PMID:16752174|REF_RGD_ID:1625047
8810005	Fau	FAU ubiquitin like and ribosomal protein S30 fusion	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8810005	Fau	FAU ubiquitin like and ribosomal protein S30 fusion	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8810005	Fau	FAU ubiquitin like and ribosomal protein S30 fusion	gene	DOID:1115	sarcoma		ISO	RGD:1351680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810005	Fau	FAU ubiquitin like and ribosomal protein S30 fusion	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8810005	Fau	FAU ubiquitin like and ribosomal protein S30 fusion	gene	DOID:4362	cervical cancer		ISO	RGD:1351680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8810005	Fau	FAU ubiquitin like and ribosomal protein S30 fusion	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8810005	Fau	FAU ubiquitin like and ribosomal protein S30 fusion	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810005	Fau	FAU ubiquitin like and ribosomal protein S30 fusion	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8810014	Hk3	hexokinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8810014	Hk3	hexokinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:736939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8810014	Hk3	hexokinase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8810014	Hk3	hexokinase 3	gene	DOID:1115	sarcoma		ISO	RGD:736939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810014	Hk3	hexokinase 3	gene	DOID:1324	lung cancer		ISO	RGD:736939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8810014	Hk3	hexokinase 3	gene	DOID:1909	melanoma		ISO	RGD:736939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8810014	Hk3	hexokinase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8810014	Hk3	hexokinase 3	gene	DOID:2843	long QT syndrome		ISO	RGD:736939	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8810014	Hk3	hexokinase 3	gene	DOID:409	liver disease		ISO	RGD:736939	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
8810014	Hk3	hexokinase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736939	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8810014	Hk3	hexokinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:736939	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8810014	Hk3	hexokinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810014	Hk3	hexokinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8810014	Hk3	hexokinase 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736939	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8810014	Hk3	hexokinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:0060754	familial temporal lobe epilepsy 8		ISO	RGD:737194	D	RGD:7240710	20180130	OMIM			
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:0060754	familial temporal lobe epilepsy 8		ISO	RGD:737194	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 8 | ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 | ClinVar Annotator: match by term: GAL-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:10534	stomach cancer		ISO	RGD:737194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:1059	intellectual disability		ISO	RGD:737194	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:10763	hypertension		ISO	RGD:61954	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:paraventricular hypothalamic  nucleus, solitary tract nucleus	PMID:15275958|REF_RGD_ID:1624333
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:10763	hypertension		ISO	RGD:737194	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:10818254
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:1188	mononeuropathy		ISO	RGD:61954	D	RGD:9068941	20200609	RGD			PMID:17383023|REF_RGD_ID:1624339
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:1470	major depressive disorder		ISO	RGD:737194	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:27940914
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:1574	alcohol use disorder		ISO	RGD:61954	D	RGD:9068941	20250501	RGD			PMID:25241055|REF_RGD_ID:598150307
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:1574	alcohol use disorder		ISO	RGD:61954	D	RGD:9068941	20250501	RGD		mRNA, protein:increased expression:hypothalamic nuclei	PMID:12818715|REF_RGD_ID:598148182
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:1574	alcohol use disorder		ISO	RGD:61954	D	RGD:9068941	20250501	RGD		mRNA, protein:increased expression:paraventricular nucleus	PMID:17250616|REF_RGD_ID:598150064
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:61954	D	RGD:9068941	20250501	RGD			PMID:29210146|REF_RGD_ID:405295495
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:62247	D	RGD:9068941	20250213	RGD			PMID:23639882|REF_RGD_ID:408345223
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:2316	brain ischemia		ISO	RGD:61954	D	RGD:9068941	20200609	RGD			PMID:16458372|REF_RGD_ID:1624341
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:2559	opiate dependence	susceptibility	ISO	RGD:737194	D	RGD:9068941	20231207	RGD		DNA:SNP: :rs948854(human)	PMID:24086514|REF_RGD_ID:401901242
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:9002211	Hyperalgesia		ISO	RGD:737194	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:12787826
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:9002554	Tachycardia		ISO	RGD:737194	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:10818254
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:9002735	alcohol withdrawal syndrome		ISO	RGD:61954	D	RGD:9068941	20250501	RGD		mRNA, protein:decreased expression:hypothalamic nuclei	PMID:12818715|REF_RGD_ID:598148182
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:9005372	Inflammation		ISO	RGD:737194	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:17999197
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:61954	D	RGD:9068941	20200609	RGD		protein:decreased expression:pancreatic islet	PMID:11489087|REF_RGD_ID:2313740
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:62247	D	RGD:9068941	20200609	RGD		protein:decreased expression:pancreatic islet	PMID:7505518|REF_RGD_ID:2313742
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:61954	D	RGD:9068941	20250828	RGD			PMID:26126619|REF_RGD_ID:626167420
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:9005968	Neuralgia		ISO	RGD:737194	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:18400411
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737194	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:15735230|REF_RGD_ID:2313738
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:61954	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:celiac ganglion	PMID:16487586|REF_RGD_ID:1624331
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:737194	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16060906|REF_RGD_ID:2313736
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:9970	obesity		ISO	RGD:737194	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:11220530|REF_RGD_ID:1624334
8810068	Gal	galanin and GMAP prepropeptide	gene	DOID:9970	obesity	no_association	ISO	RGD:737194	D	RGD:9068941	20200609	RGD			PMID:15930442|REF_RGD_ID:1625748
8810076	Klf10	KLF transcription factor 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8810076	Klf10	KLF transcription factor 10	gene	DOID:1115	sarcoma		ISO	RGD:1348365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810076	Klf10	KLF transcription factor 10	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1348365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8810076	Klf10	KLF transcription factor 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810076	Klf10	KLF transcription factor 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8810076	Klf10	KLF transcription factor 10	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8810076	Klf10	KLF transcription factor 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8810083	Nemp1	nuclear envelope integral membrane protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1603697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8810083	Nemp1	nuclear envelope integral membrane protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8810083	Nemp1	nuclear envelope integral membrane protein 1	gene	DOID:3275	thymoma		ISO	RGD:1603697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8810083	Nemp1	nuclear envelope integral membrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810083	Nemp1	nuclear envelope integral membrane protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8810083	Nemp1	nuclear envelope integral membrane protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8810119	Acss3	acyl-CoA synthetase short chain family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1603012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8810119	Acss3	acyl-CoA synthetase short chain family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8810119	Acss3	acyl-CoA synthetase short chain family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1603012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810119	Acss3	acyl-CoA synthetase short chain family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1603012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8810119	Acss3	acyl-CoA synthetase short chain family member 3	gene	DOID:1909	melanoma		ISO	RGD:1603012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8810119	Acss3	acyl-CoA synthetase short chain family member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8810119	Acss3	acyl-CoA synthetase short chain family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810119	Acss3	acyl-CoA synthetase short chain family member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8810119	Acss3	acyl-CoA synthetase short chain family member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8810142	Lamb3	laminin subunit beta 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8810142	Lamb3	laminin subunit beta 3	gene	DOID:0060737	junctional epidermolysis bullosa Herlitz type		ISO	RGD:1344175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa, junctional, Herlitz-Pearson type | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz	PMID:10577906|PMID:10660342|PMID:11023379|PMID:11296269|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:15725250|PMID:16199547|PMID:16403119|PMID:16473856|PMID:17476356|PMID:17576681|PMID:19369679|PMID:20301304|PMID:20574443|PMID:21801158|PMID:22931927|PMID:23278291|PMID:24617447|PMID:25525159|PMID:25708563|PMID:25741868|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28087116|PMID:28392661|PMID:28492532|PMID:28830826|PMID:29334134|PMID:29900604|PMID:32124492|PMID:32484238|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8618020|PMID:8824879|PMID:8983017|PMID:9160387|PMID:9205497|PMID:9242513|PMID:9326326|PMID:9536098|PMID:9690563|PMID:9767254
8810142	Lamb3	laminin subunit beta 3	gene	DOID:0060738	junctional epidermolysis bullosa non-Herlitz type		ISO	RGD:1344175	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type	PMID:10577906|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:12813757|PMID:15311214|PMID:15538630|PMID:15663509|PMID:15725250|PMID:16439963|PMID:16473856|PMID:17115047|PMID:17476356|PMID:21801158|PMID:22931927|PMID:23278291|PMID:24617447|PMID:25708563|PMID:25741868|PMID:27062385|PMID:27375110|PMID:28087116|PMID:28492532|PMID:28830826|PMID:29334134|PMID:30544381|PMID:7698759|PMID:7706760|PMID:8824879|PMID:8983017|PMID:9038345|PMID:9205497|PMID:9242513|PMID:9501007|PMID:9690563|PMID:9767254|PMID:9856855
8810142	Lamb3	laminin subunit beta 3	gene	DOID:0060738	junctional epidermolysis bullosa non-Herlitz type		ISO	RGD:1344175	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL | ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type	PMID:10577906|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:15725250|PMID:16199547|PMID:16439963|PMID:16473856|PMID:17115047|PMID:17476356|PMID:17576681|PMID:19369679|PMID:20301304|PMID:20574443|PMID:21801158|PMID:22371912|PMID:22931927|PMID:23278291|PMID:24617447|PMID:25708563|PMID:25741868|PMID:25950805|PMID:27062385|PMID:27120332|PMID:27375110|PMID:27480391|PMID:28087116|PMID:28492532|PMID:28561256|PMID:28830826|PMID:29334134|PMID:29900604|PMID:30046887|PMID:30544381|PMID:31737911|PMID:33274474|PMID:33822359|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8824879|PMID:8983017|PMID:9038345|PMID:9205497|PMID:9242513|PMID:9501007|PMID:9536098|PMID:9690563|PMID:9767254|PMID:9856855
8810142	Lamb3	laminin subunit beta 3	gene	DOID:0060738	junctional epidermolysis bullosa non-Herlitz type		ISO	RGD:1344175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL | ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type	PMID:10577906|PMID:10660342|PMID:11023379|PMID:11296269|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:16199547|PMID:16473856|PMID:17476356|PMID:17576681|PMID:19369679|PMID:20301304|PMID:20574443|PMID:21801158|PMID:23278291|PMID:24617447|PMID:25708563|PMID:25741868|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28492532|PMID:28830826|PMID:36287101|PMID:39420565|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8618020|PMID:8824879|PMID:8983017|PMID:9205497|PMID:9242513|PMID:9326326|PMID:9536098|PMID:9690563|PMID:9767254
8810142	Lamb3	laminin subunit beta 3	gene	DOID:0080988	pretibial dystrophic epidermolysis bullosa		ISO	RGD:1344175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa	PMID:10577906|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:15311214|PMID:15538630|PMID:15663509|PMID:16473856|PMID:17476356|PMID:20301304|PMID:21801158|PMID:25708563|PMID:25741868|PMID:27062385|PMID:28492532|PMID:28830826|PMID:7698759|PMID:8824879|PMID:8983017|PMID:9205497|PMID:9242513
8810142	Lamb3	laminin subunit beta 3	gene	DOID:0110054	amelogenesis imperfecta type 1A		ISO	RGD:1344175	D	RGD:7240710	20180130	OMIM			
8810142	Lamb3	laminin subunit beta 3	gene	DOID:0110054	amelogenesis imperfecta type 1A		ISO	RGD:1344175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IA	PMID:10577906|PMID:10660342|PMID:11023379|PMID:11296269|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:16199547|PMID:16473856|PMID:17476356|PMID:17576681|PMID:19369679|PMID:20301304|PMID:20574443|PMID:21801158|PMID:23278291|PMID:24617447|PMID:25525159|PMID:25708563|PMID:25741868|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28492532|PMID:28830826|PMID:32124492|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8618020|PMID:8824879|PMID:8983017|PMID:9205497|PMID:9242513|PMID:9326326|PMID:9536098|PMID:9690563|PMID:9767254
8810142	Lamb3	laminin subunit beta 3	gene	DOID:10534	stomach cancer		ISO	RGD:1344175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8810142	Lamb3	laminin subunit beta 3	gene	DOID:1115	sarcoma		ISO	RGD:1344175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810142	Lamb3	laminin subunit beta 3	gene	DOID:12849	autistic disorder		ISO	RGD:1344175	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	
8810142	Lamb3	laminin subunit beta 3	gene	DOID:1324	lung cancer		ISO	RGD:1344175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8810142	Lamb3	laminin subunit beta 3	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1344175	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: amelogenesis imperfecta	
8810142	Lamb3	laminin subunit beta 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8810142	Lamb3	laminin subunit beta 3	gene	DOID:2730	epidermolysis bullosa		ISO	RGD:1344175	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa	PMID:25741868
8810142	Lamb3	laminin subunit beta 3	gene	DOID:3209	junctional epidermolysis bullosa		ISO	RGD:1344175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional | ClinVar Annotator: match by term: Junctional Epidermolysis Bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa | ClinVar Annotator: match by term: junctional epidermolysis bullosa	PMID:10577906|PMID:11023379|PMID:11296269|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:16199547|PMID:16473856|PMID:16971478|PMID:17476356|PMID:17576681|PMID:17916201|PMID:19369679|PMID:20301304|PMID:20574443|PMID:21801158|PMID:24033266|PMID:24617447|PMID:25525159|PMID:25708563|PMID:25741868|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28087116|PMID:28492532|PMID:28561256|PMID:28830826|PMID:29334134|PMID:29900604|PMID:32124492|PMID:34539738|PMID:36246619|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8618020|PMID:8824879|PMID:8983017|PMID:9205497|PMID:9242513|PMID:9326326|PMID:9536098|PMID:9690563|PMID:9767254|PMID:9856852
8810142	Lamb3	laminin subunit beta 3	gene	DOID:3209	junctional epidermolysis bullosa	susceptibility	ISO	RGD:1344175	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation	PMID:7698759|REF_RGD_ID:1600209
8810142	Lamb3	laminin subunit beta 3	gene	DOID:3275	thymoma		ISO	RGD:1344175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8810142	Lamb3	laminin subunit beta 3	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1344175	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung:	PMID:10964684|REF_RGD_ID:13793368
8810142	Lamb3	laminin subunit beta 3	gene	DOID:4362	cervical cancer		ISO	RGD:1344175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8810142	Lamb3	laminin subunit beta 3	gene	DOID:4603	epidermolytic hyperkeratosis		ISO	RGD:1344175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epidermolytic ichthyosis	PMID:10577906|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:15311214|PMID:15538630|PMID:15663509|PMID:16473856|PMID:17476356|PMID:20301304|PMID:21801158|PMID:25708563|PMID:25741868|PMID:27062385|PMID:28492532|PMID:28830826|PMID:7698759|PMID:8824879|PMID:8983017|PMID:9205497|PMID:9242513
8810142	Lamb3	laminin subunit beta 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1344175	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8810142	Lamb3	laminin subunit beta 3	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1344175	D	RGD:9068941	20200609	RGD		DNA:hyper-methylation:promoter:	PMID:12855645|REF_RGD_ID:13793369
8810142	Lamb3	laminin subunit beta 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810142	Lamb3	laminin subunit beta 3	gene	DOID:630	genetic disease		ISO	RGD:1344175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8810142	Lamb3	laminin subunit beta 3	gene	DOID:9000850	Junctional Epidermolysis Bullosa 1A, Intermediate		ISO	RGD:1344175	D	RGD:7240710	20220608	OMIM			
8810142	Lamb3	laminin subunit beta 3	gene	DOID:9000850	Junctional Epidermolysis Bullosa 1A, Intermediate		ISO	RGD:1344175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE	PMID:10577906|PMID:10660342|PMID:11023379|PMID:11296269|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:16199547|PMID:16473856|PMID:17476356|PMID:20301304|PMID:21801158|PMID:23278291|PMID:24617447|PMID:25708563|PMID:25741868|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28492532|PMID:28830826|PMID:29900604|PMID:30046887|PMID:7550237|PMID:7698759|PMID:8824879|PMID:8983017|PMID:9205497|PMID:9242513|PMID:9326326|PMID:9856855
8810142	Lamb3	laminin subunit beta 3	gene	DOID:9001145	Junctional Epidermolysis Bullosa 1B, Severe		ISO	RGD:1344175	D	RGD:7240710	20220608	OMIM			
8810142	Lamb3	laminin subunit beta 3	gene	DOID:9001145	Junctional Epidermolysis Bullosa 1B, Severe		ISO	RGD:1344175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE	PMID:10577906|PMID:10660342|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:16199547|PMID:16473856|PMID:17476356|PMID:17576681|PMID:19369679|PMID:20301304|PMID:20574443|PMID:21801158|PMID:23278291|PMID:24617447|PMID:24947307|PMID:25525159|PMID:25708563|PMID:25741868|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28492532|PMID:28830826|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8618020|PMID:8824879|PMID:8983017|PMID:9205497|PMID:9242513|PMID:9457915|PMID:9536098|PMID:9579554|PMID:9690563|PMID:9767254|PMID:9856852
8810142	Lamb3	laminin subunit beta 3	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:1344175	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15541073
8810142	Lamb3	laminin subunit beta 3	gene	DOID:9006215	Exfoliative Dermatitis		ISO	RGD:1344175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Erythroderma	PMID:10577906|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:15311214|PMID:15538630|PMID:15663509|PMID:16473856|PMID:17476356|PMID:20301304|PMID:21801158|PMID:25708563|PMID:25741868|PMID:27062385|PMID:28492532|PMID:28830826|PMID:7698759|PMID:8824879|PMID:8983017|PMID:9205497|PMID:9242513
8810142	Lamb3	laminin subunit beta 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8810142	Lamb3	laminin subunit beta 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8810186	Smad3	SMAD family member 3	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:1343311	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Loeys-Dietz syndrome	PMID:17576681|PMID:21217753|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:30661052|PMID:31085000|PMID:9536098
8810186	Smad3	SMAD family member 3	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:1343311	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Loeys-Dietz syndrome	PMID:21217753|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:30661052|PMID:30787465|PMID:31085000
8810186	Smad3	SMAD family member 3	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:1343311	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A	PMID:21217753|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:30661052|PMID:30787465|PMID:31085000|PMID:31915033
8810186	Smad3	SMAD family member 3	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:1343311	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: Loeys-Dietz syndrome	PMID:16199547|PMID:21778426|PMID:24033266|PMID:24657066|PMID:24711937|PMID:24804794|PMID:25741868|PMID:28286188|PMID:28492532|PMID:29392890|PMID:29510914|PMID:30661052|PMID:31915033|PMID:32597575
8810186	Smad3	SMAD family member 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532|PMID:29510914|PMID:31096651|PMID:34434896
8810186	Smad3	SMAD family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8810186	Smad3	SMAD family member 3	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:3032	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:liver	PMID:24680176|REF_RGD_ID:12903951
8810186	Smad3	SMAD family member 3	gene	DOID:0070237	Loeys-Dietz syndrome 3		ISO	RGD:1343311	D	RGD:7240710	20180130	OMIM			
8810186	Smad3	SMAD family member 3	gene	DOID:0070237	Loeys-Dietz syndrome 3		ISO	RGD:1343311	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANEURYSMS-OSTEOARTHRITIS SYNDROME | ClinVar Annotator: match by term: LOEYS-DIETZ SYNDROME 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C | ClinVar Annotator: match by term: SMAD3-related condition	PMID:11224571|PMID:17576681|PMID:20301312|PMID:21217753|PMID:21778426|PMID:21868450|PMID:22167769|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26333736|PMID:27724990|PMID:28492532|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30661052|PMID:31096651|PMID:32154675|PMID:32597575|PMID:33059708|PMID:33125268|PMID:34122524|PMID:34150014|PMID:34434896|PMID:35031499|PMID:35753512|PMID:35874167|PMID:36495030|PMID:37813462|PMID:37937776|PMID:9536098
8810186	Smad3	SMAD family member 3	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:22167769|PMID:25741868|PMID:28492532|PMID:30661052|PMID:32154675
8810186	Smad3	SMAD family member 3	gene	DOID:0080685	aortic dissection		ISO	RGD:1343311	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Ascending aortic dissection | ClinVar Annotator: match by term: Descending aortic dissection	PMID:20301312|PMID:25741868|PMID:28492532|PMID:29907982|PMID:30661052|PMID:32597575|PMID:32897753|PMID:35031499
8810186	Smad3	SMAD family member 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532|PMID:29510914|PMID:31096651|PMID:34434896
8810186	Smad3	SMAD family member 3	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1343311	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:significantly elevated in 53/67 (79%, p=0.0002) overall, in 23/35 with Gleason score 6-7(66%) and 30/32 with Gleason score 8-10 (94%, p=0.0062); by immunohistochemistry	PMID:17908958|REF_RGD_ID:2300396
8810186	Smad3	SMAD family member 3	gene	DOID:1059	intellectual disability		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:25944730|PMID:28492532|PMID:29392890|PMID:29510914|PMID:30661052|PMID:32154675|PMID:36495030|PMID:37937776
8810186	Smad3	SMAD family member 3	gene	DOID:10892	hypospadias		ISO	RGD:3032	D	RGD:9068941	20250306	RGD		mRNA,protein:increased expression:penis	PMID:27794206|REF_RGD_ID:597830139
8810186	Smad3	SMAD family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8810186	Smad3	SMAD family member 3	gene	DOID:11830	myopia		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532|PMID:29907982
8810186	Smad3	SMAD family member 3	gene	DOID:127	leiomyoma		ISO	RGD:1343311	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22228119
8810186	Smad3	SMAD family member 3	gene	DOID:12849	autistic disorder		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
8810186	Smad3	SMAD family member 3	gene	DOID:12935	alcoholic cardiomyopathy		ISO	RGD:3032	D	RGD:9068941	20250301	RGD		protein:increased expression:heart	PMID:19080654|REF_RGD_ID:597830061
8810186	Smad3	SMAD family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1343311	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lung Cancer	PMID:21515830|PMID:24465804|PMID:26253951
8810186	Smad3	SMAD family member 3	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:24033266|PMID:25741868|PMID:25944730|PMID:28492532|PMID:29392890|PMID:29510914|PMID:30661052|PMID:32154675|PMID:36495030
8810186	Smad3	SMAD family member 3	gene	DOID:1380	endometrial cancer		ISO	RGD:1343311	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:12883738|REF_RGD_ID:2299970
8810186	Smad3	SMAD family member 3	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1343311	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10092624|PMID:11224571|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25944730|PMID:26133393|PMID:26854089|PMID:27724990|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31915033|PMID:32154675|PMID:33125268|PMID:9536098
8810186	Smad3	SMAD family member 3	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1343311	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10092624|PMID:11224571|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25944730|PMID:26133393|PMID:26333736|PMID:26854089|PMID:27724990|PMID:27986426|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31915033|PMID:32154675|PMID:32597575|PMID:33125268|PMID:9536098
8810186	Smad3	SMAD family member 3	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1343311	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10092624|PMID:11224571|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25555948|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26333736|PMID:26633542|PMID:26854089|PMID:27724990|PMID:27986426|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29650765|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31915033|PMID:32154675|PMID:32597575|PMID:33059708|PMID:33125268|PMID:34122524|PMID:34434896|PMID:36495030|PMID:825693|PMID:9536098
8810186	Smad3	SMAD family member 3	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1343311	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10092624|PMID:11224571|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:20851114|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:246998|PMID:24711937|PMID:24804794|PMID:25555948|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26221609|PMID:26333736|PMID:26633542|PMID:26854089|PMID:27457343|PMID:27724990|PMID:27986426|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29650765|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31329162|PMID:31915033|PMID:32154675|PMID:32597575|PMID:33059708|PMID:33125268|PMID:34122524|PMID:34434896|PMID:36495030|PMID:576587|PMID:658878|PMID:825693|PMID:9536098
8810186	Smad3	SMAD family member 3	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1343311	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10092624|PMID:11224571|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:20301312|PMID:20851114|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:246998|PMID:24711937|PMID:24804794|PMID:25555948|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26221609|PMID:26333736|PMID:26633542|PMID:26854089|PMID:27457343|PMID:27724990|PMID:27986426|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29650765|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31329162|PMID:31915033|PMID:32154675|PMID:32597575|PMID:32897753|PMID:33059708|PMID:33125268|PMID:34122524|PMID:34434896|PMID:35031499|PMID:36495030|PMID:576587|PMID:658878|PMID:825693|PMID:9536098
8810186	Smad3	SMAD family member 3	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1343311	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10092624|PMID:11224571|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:20301312|PMID:20851114|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:246998|PMID:24711937|PMID:24804794|PMID:25326637|PMID:25555948|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26221609|PMID:26333736|PMID:26633542|PMID:26854089|PMID:27457343|PMID:27724990|PMID:27986426|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29650765|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31329162|PMID:31915033|PMID:32154675|PMID:32597575|PMID:32897753|PMID:33059708|PMID:33125268|PMID:34122524|PMID:34434896|PMID:35031499|PMID:36495030|PMID:37589029|PMID:576587|PMID:658878|PMID:825693|PMID:9536098
8810186	Smad3	SMAD family member 3	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1343311	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10092624|PMID:11224571|PMID:12686552|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:20301312|PMID:20851114|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:246998|PMID:24711937|PMID:24804794|PMID:25555948|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26221609|PMID:26333736|PMID:26633542|PMID:26854089|PMID:27457343|PMID:27724990|PMID:27986426|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29650765|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:30833837|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31329162|PMID:31569402|PMID:31915033|PMID:32123317|PMID:32154675|PMID:32352226|PMID:32597575|PMID:32897753|PMID:33059708|PMID:33125268|PMID:34122524|PMID:34434896|PMID:35031499|PMID:36495030|PMID:37589029|PMID:38538566|PMID:576587|PMID:658878|PMID:825693|PMID:9536098
8810186	Smad3	SMAD family member 3	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1343311	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10092624|PMID:11224571|PMID:12686552|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:20301312|PMID:20851114|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:246998|PMID:24711937|PMID:24804794|PMID:25555948|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26221609|PMID:26333736|PMID:26633542|PMID:26854089|PMID:27457343|PMID:27724990|PMID:27986426|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29650765|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:30833837|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31329162|PMID:31569402|PMID:31915033|PMID:32123317|PMID:32154675|PMID:32352226|PMID:32597575|PMID:32897753|PMID:33059708|PMID:33125268|PMID:34122524|PMID:34150014|PMID:34434896|PMID:35031499|PMID:36495030|PMID:37589029|PMID:37937776|PMID:38538566|PMID:576587|PMID:658878|PMID:825693|PMID:9536098
8810186	Smad3	SMAD family member 3	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1343311	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10092624|PMID:11224571|PMID:12686552|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:20301312|PMID:20851114|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:246998|PMID:24711937|PMID:24804794|PMID:25326637|PMID:25555948|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26221609|PMID:26333736|PMID:26633542|PMID:26854089|PMID:27457343|PMID:27724990|PMID:27986426|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29650765|PMID:29717556|PMID:29907982|PMID:30087447|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:30833837|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31329162|PMID:31569402|PMID:31915033|PMID:32123317|PMID:32154675|PMID:32352226|PMID:32597575|PMID:32897753|PMID:33059708|PMID:33125268|PMID:34122524|PMID:34150014|PMID:34434896|PMID:35031499|PMID:35487415|PMID:35753512|PMID:36401557|PMID:36495030|PMID:36517271|PMID:37589029|PMID:37937776|PMID:38538566|PMID:576587|PMID:658878|PMID:825693|PMID:9536098
8810186	Smad3	SMAD family member 3	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1343311	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10092624|PMID:11224571|PMID:12686552|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:20301312|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:24804794|PMID:25555948|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26333736|PMID:26633542|PMID:26854089|PMID:27457343|PMID:27724990|PMID:27986426|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29650765|PMID:29717556|PMID:29907982|PMID:30087447|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:30833837|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31447099|PMID:31569402|PMID:31915033|PMID:32123317|PMID:32154675|PMID:32352226|PMID:32597575|PMID:32897753|PMID:33059708|PMID:33125268|PMID:33824467|PMID:34122524|PMID:34150014|PMID:34434896|PMID:35031499|PMID:35487415|PMID:35753512|PMID:36401557|PMID:36495030|PMID:36517271|PMID:37589029|PMID:37937776|PMID:38259611|PMID:38538566|PMID:9536098
8810186	Smad3	SMAD family member 3	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1343311	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10092624|PMID:11224571|PMID:12686552|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:20301312|PMID:20851114|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25555948|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26221609|PMID:26333736|PMID:26633542|PMID:26854089|PMID:27457343|PMID:27724990|PMID:27986426|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29650765|PMID:29717556|PMID:29907982|PMID:30087447|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:30833837|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31447099|PMID:31569402|PMID:31915033|PMID:32123317|PMID:32154675|PMID:32352226|PMID:32597575|PMID:32897753|PMID:33059708|PMID:33125268|PMID:33824467|PMID:34122524|PMID:34150014|PMID:34434896|PMID:35031499|PMID:35487415|PMID:35753512|PMID:36401557|PMID:36495030|PMID:36517271|PMID:37589029|PMID:37937776|PMID:38259611|PMID:38538566|PMID:9536098
8810186	Smad3	SMAD family member 3	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1343311	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10092624|PMID:11224571|PMID:16199547|PMID:16828225|PMID:20851114|PMID:21778426|PMID:21949838|PMID:22167769|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25555948|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26133393|PMID:26221609|PMID:26333736|PMID:26633542|PMID:26854089|PMID:27457343|PMID:28185953|PMID:28492532|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29650765|PMID:29907982|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30833837|PMID:31096651|PMID:31447099|PMID:31569402|PMID:32154675|PMID:32352226|PMID:32597575|PMID:33125268|PMID:33824467|PMID:34150014|PMID:34434896|PMID:35031499|PMID:35487415|PMID:36495030|PMID:36517271|PMID:37589029|PMID:37937776|PMID:38259611
8810186	Smad3	SMAD family member 3	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:1343311	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23274713
8810186	Smad3	SMAD family member 3	gene	DOID:14018	alcoholic liver cirrhosis	treatment	ISO	RGD:3032	D	RGD:9068941	20250306	RGD			PMID:18180699|REF_RGD_ID:597830076
8810186	Smad3	SMAD family member 3	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:16828225|PMID:17725494|PMID:25741868|PMID:25944730|PMID:28492532|PMID:30661052|PMID:30739908|PMID:31915033|PMID:35101336|PMID:37937776
8810186	Smad3	SMAD family member 3	gene	DOID:1596	depressive disorder		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
8810186	Smad3	SMAD family member 3	gene	DOID:1657	ventricular septal defect		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
8810186	Smad3	SMAD family member 3	gene	DOID:1793	pancreatic cancer		ISO	RGD:1343311	D	RGD:9068941	20200609	RGD		DNA:mutations:exon	PMID:18772397|REF_RGD_ID:5490966
8810186	Smad3	SMAD family member 3	gene	DOID:2030	anxiety disorder		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
8810186	Smad3	SMAD family member 3	gene	DOID:3087	gingivitis		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868|PMID:28492532|PMID:29907982
8810186	Smad3	SMAD family member 3	gene	DOID:3393	coronary artery disease		ISO	RGD:1343311	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Coronary artery disease	PMID:25741868
8810186	Smad3	SMAD family member 3	gene	DOID:3627	aortic aneurysm		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm	PMID:22167769|PMID:24711937|PMID:25741868|PMID:28492532|PMID:28944238|PMID:29510914|PMID:29907982|PMID:30661052|PMID:31096651|PMID:32154675|PMID:33125268|PMID:37937776
8810186	Smad3	SMAD family member 3	gene	DOID:3744	cervical squamous cell carcinoma	severity	ISO	RGD:1343311	D	RGD:9068941	20200807	RGD			PMID:28086903|REF_RGD_ID:38455996
8810186	Smad3	SMAD family member 3	gene	DOID:3883	Lynch syndrome		ISO	RGD:1343311	D	RGD:9068941	20200609	RGD			PMID:10819637|REF_RGD_ID:1599900
8810186	Smad3	SMAD family member 3	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1343311	D	RGD:9068941	20220818	RGD		protein:increased expression:lung (human)	PMID:25375657|REF_RGD_ID:11074609
8810186	Smad3	SMAD family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1343311	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:17576681|PMID:28492532|PMID:9536098
8810186	Smad3	SMAD family member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1343311	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8810186	Smad3	SMAD family member 3	gene	DOID:5082	liver cirrhosis		ISO	RGD:1343311	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21605584
8810186	Smad3	SMAD family member 3	gene	DOID:5199	ureteral obstruction		ISO	RGD:1343311	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28318631
8810186	Smad3	SMAD family member 3	gene	DOID:520	aortic disease		ISO	RGD:1343311	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Aortopathy | ClinVar Annotator: match by term: Familial aortopathy	PMID:16199547|PMID:21778426|PMID:24804794|PMID:25741868|PMID:28492532|PMID:31098894
8810186	Smad3	SMAD family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810186	Smad3	SMAD family member 3	gene	DOID:5844	myocardial infarction	ameliorates	ISO	RGD:735647	D	RGD:9068941	20230921	RGD			PMID:33409963|REF_RGD_ID:401794430
8810186	Smad3	SMAD family member 3	gene	DOID:65	connective tissue disease		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
8810186	Smad3	SMAD family member 3	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1343311	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8810186	Smad3	SMAD family member 3	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal aortic aneurysm	
8810186	Smad3	SMAD family member 3	gene	DOID:8398	osteoarthritis		ISO	RGD:1343311	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21217753|PMID:22772368
8810186	Smad3	SMAD family member 3	gene	DOID:8398	osteoarthritis		ISO	RGD:735647	D	RGD:9068941	20220825	MouseDO		OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401	
8810186	Smad3	SMAD family member 3	gene	DOID:8778	Crohn's disease		ISO	RGD:1343311	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21102463
8810186	Smad3	SMAD family member 3	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532|PMID:29907982
8810186	Smad3	SMAD family member 3	gene	DOID:9000099	Experimental Colitis		ISO	RGD:735647	D	RGD:9068941	20250306	RGD		protein:increased expression:colon	PMID:30064196|REF_RGD_ID:597830080
8810186	Smad3	SMAD family member 3	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532|PMID:29907982
8810186	Smad3	SMAD family member 3	gene	DOID:9001510	Funnel Chest		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:28492532|PMID:29510914|PMID:31096651|PMID:34434896
8810186	Smad3	SMAD family member 3	gene	DOID:9001516	Familial Thoracic Aortic Aneurysm 6		ISO	RGD:1343311	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6	PMID:25741868
8810186	Smad3	SMAD family member 3	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:3032	D	RGD:9068941	20250306	RGD			PMID:25691930|PMID:30346985|REF_RGD_ID:151665755|REF_RGD_ID:401976485
8810186	Smad3	SMAD family member 3	gene	DOID:9001733	Tinnitus		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532|PMID:29907982
8810186	Smad3	SMAD family member 3	gene	DOID:9001929	Hypoglossal Nerve Injuries		ISO	RGD:3032	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hypoglossal nucleus	PMID:17166487|REF_RGD_ID:1643227
8810186	Smad3	SMAD family member 3	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:3032	D	RGD:9068941	20250308	RGD			PMID:28501981|REF_RGD_ID:597830147
8810186	Smad3	SMAD family member 3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532|PMID:29907982
8810186	Smad3	SMAD family member 3	gene	DOID:9003133	Hypertelorism		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:25944730|PMID:28492532|PMID:29392890|PMID:29510914|PMID:30661052|PMID:32154675|PMID:36495030|PMID:37937776
8810186	Smad3	SMAD family member 3	gene	DOID:9003539	Hyperacusis		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868|PMID:28492532|PMID:29510914|PMID:31096651|PMID:34434896
8810186	Smad3	SMAD family member 3	gene	DOID:9004268	Uterine Neoplasms		ISO	RGD:1343311	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22228119
8810186	Smad3	SMAD family member 3	gene	DOID:9004303	Tubulointerstitial Fibrosis	ameliorates	ISO	RGD:735647	D	RGD:9068941	20230921	RGD			PMID:32065356|REF_RGD_ID:401824679
8810186	Smad3	SMAD family member 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532|PMID:29510914|PMID:31096651|PMID:34434896
8810186	Smad3	SMAD family member 3	gene	DOID:9005077	Joint Instability		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:25944730|PMID:28492532|PMID:29392890|PMID:29510914|PMID:30661052|PMID:31096651|PMID:32154675|PMID:34434896|PMID:36495030|PMID:37937776
8810186	Smad3	SMAD family member 3	gene	DOID:9005332	Spontaneous Coronary Artery Dissection		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Idiopathic spontaneous coronary artery dissection	PMID:25741868|PMID:28492532|PMID:29543232
8810186	Smad3	SMAD family member 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:25944730|PMID:28492532|PMID:29392890|PMID:29510914|PMID:30661052|PMID:32154675|PMID:36495030|PMID:37937776
8810186	Smad3	SMAD family member 3	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1343311	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27422367
8810186	Smad3	SMAD family member 3	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:1343311	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374069
8810186	Smad3	SMAD family member 3	gene	DOID:9006045	Dissecting Aneurysm		ISO	RGD:1343311	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21217753
8810186	Smad3	SMAD family member 3	gene	DOID:9006182	Carotid Artery Injuries	treatment	ISO	RGD:3032	D	RGD:9068941	20250306	RGD			PMID:30066831|REF_RGD_ID:597830142
8810186	Smad3	SMAD family member 3	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:1343311	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16635409
8810186	Smad3	SMAD family member 3	gene	DOID:9007174	Ventricular Remodeling	ameliorates	ISO	RGD:735647	D	RGD:9068941	20230406	RGD		associated with myocardial infarction	PMID:25726944|REF_RGD_ID:11252030
8810186	Smad3	SMAD family member 3	gene	DOID:9007436	Hypertrophic Cicatrix	treatment	ISO	RGD:3032	D	RGD:9068941	20250306	RGD			PMID:34320121|REF_RGD_ID:597830078
8810186	Smad3	SMAD family member 3	gene	DOID:9007573	Flatfoot		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
8810186	Smad3	SMAD family member 3	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:3032	D	RGD:9068941	20200609	RGD			PMID:22913380|REF_RGD_ID:12903950
8810186	Smad3	SMAD family member 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:25944730|PMID:28492532|PMID:29392890|PMID:29510914|PMID:30661052|PMID:32154675|PMID:36495030|PMID:37937776
8810186	Smad3	SMAD family member 3	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1343311	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30510241
8810186	Smad3	SMAD family member 3	gene	DOID:9008604	Radiation Pneumonitis	treatment	ISO	RGD:3032	D	RGD:9068941	20250306	RGD			PMID:34036875|REF_RGD_ID:597830143
8810186	Smad3	SMAD family member 3	gene	DOID:9008615	Familial Thoracic Aortic Aneurysm 1		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial thoracic aortic aneurysm	PMID:25741868|PMID:28492532
8810186	Smad3	SMAD family member 3	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1343311	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15183723|PMID:21217753
8810186	Smad3	SMAD family member 3	gene	DOID:9834	hyperopia		ISO	RGD:1343311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532|PMID:29907982
8810186	Smad3	SMAD family member 3	gene	DOID:9975	cocaine dependence	ameliorates	ISO	RGD:3032	D	RGD:9068941	20250301	RGD			PMID:26030849|PMID:27422367|REF_RGD_ID:597830060|REF_RGD_ID:597830063
8810204	Rundc3b	RUN domain containing 3B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8810204	Rundc3b	RUN domain containing 3B	gene	DOID:10534	stomach cancer		ISO	RGD:1601714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8810204	Rundc3b	RUN domain containing 3B	gene	DOID:1115	sarcoma		ISO	RGD:1601714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810204	Rundc3b	RUN domain containing 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810204	Rundc3b	RUN domain containing 3B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8810221	Rpl9	ribosomal protein L9	gene	DOID:10534	stomach cancer		ISO	RGD:736467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8810221	Rpl9	ribosomal protein L9	gene	DOID:1324	lung cancer		ISO	RGD:736467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8810221	Rpl9	ribosomal protein L9	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:736467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8810221	Rpl9	ribosomal protein L9	gene	DOID:1909	melanoma		ISO	RGD:736467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8810221	Rpl9	ribosomal protein L9	gene	DOID:4362	cervical cancer		ISO	RGD:736467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8810221	Rpl9	ribosomal protein L9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810221	Rpl9	ribosomal protein L9	gene	DOID:9004484	Sepsis		ISO	RGD:736467	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27978524
8810221	Rpl9	ribosomal protein L9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8810238	Esco1	establishment of sister chromatid cohesion N-acetyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8810238	Esco1	establishment of sister chromatid cohesion N-acetyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8810238	Esco1	establishment of sister chromatid cohesion N-acetyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8810238	Esco1	establishment of sister chromatid cohesion N-acetyltransferase 1	gene	DOID:1115	sarcoma		ISO	RGD:1353486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810238	Esco1	establishment of sister chromatid cohesion N-acetyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1353486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8810238	Esco1	establishment of sister chromatid cohesion N-acetyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8810238	Esco1	establishment of sister chromatid cohesion N-acetyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353486	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8810238	Esco1	establishment of sister chromatid cohesion N-acetyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810238	Esco1	establishment of sister chromatid cohesion N-acetyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8810238	Esco1	establishment of sister chromatid cohesion N-acetyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8810288	Nkain2	sodium/potassium transporting ATPase interacting 2	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1349938	D	RGD:9068941	20250109	RGD		DNA:SNP: :rs637547 (human)	PMID:21445666|REF_RGD_ID:596938167
8810288	Nkain2	sodium/potassium transporting ATPase interacting 2	gene	DOID:10283	prostate cancer		ISO	RGD:1349938	D	RGD:9068941	20250109	RGD		mRNA, protein:decreased expression:prostate	PMID:27588475|REF_RGD_ID:596938169
8810288	Nkain2	sodium/potassium transporting ATPase interacting 2	gene	DOID:1561	cognitive disorder	sexual_dimorphism	ISO	RGD:1349938	D	RGD:9068941	20250109	RGD		DNA:SNPs:intron:multiple	PMID:34099189|REF_RGD_ID:596948392
8810288	Nkain2	sodium/potassium transporting ATPase interacting 2	gene	DOID:1909	melanoma		ISO	RGD:1349938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8810288	Nkain2	sodium/potassium transporting ATPase interacting 2	gene	DOID:769	neuroblastoma	severity	ISO	RGD:1349938	D	RGD:9068941	20250109	RGD			PMID:24205241|REF_RGD_ID:596938168
8810288	Nkain2	sodium/potassium transporting ATPase interacting 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8810288	Nkain2	sodium/potassium transporting ATPase interacting 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8810304	Foxo4	forkhead box O4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8810304	Foxo4	forkhead box O4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8810304	Foxo4	forkhead box O4	gene	DOID:0080147	lymphoblastic lymphoma		ISO	RGD:1556902	D	RGD:9068941	20221027	RGD			PMID:17254969|REF_RGD_ID:155630604
8810304	Foxo4	forkhead box O4	gene	DOID:1059	intellectual disability		ISO	RGD:1353756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868
8810304	Foxo4	forkhead box O4	gene	DOID:10808	gastric ulcer		ISO	RGD:1561201	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:gastric mucosa:	PMID:22735908|REF_RGD_ID:10402364
8810304	Foxo4	forkhead box O4	gene	DOID:1324	lung cancer		ISO	RGD:1353756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8810304	Foxo4	forkhead box O4	gene	DOID:251	alcohol-induced mental disorder		ISO	RGD:1561201	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:small intestine:	PMID:23292333|REF_RGD_ID:10402360
8810304	Foxo4	forkhead box O4	gene	DOID:255	hemangioma		ISO	RGD:1556902	D	RGD:9068941	20221027	RGD			PMID:17254969|REF_RGD_ID:155630604
8810304	Foxo4	forkhead box O4	gene	DOID:607	paraplegia		ISO	RGD:1561201	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle:	PMID:18236467|REF_RGD_ID:5509082
8810304	Foxo4	forkhead box O4	gene	DOID:9002514	Neointima		ISO	RGD:1556902	D	RGD:9068941	20200609	RGD			PMID:17242183|REF_RGD_ID:10402361
8810304	Foxo4	forkhead box O4	gene	DOID:9002514	Neointima		ISO	RGD:1556902	D	RGD:9068941	20200609	RGD		protein:increased expression:smooth muscle cell:	PMID:16054032|REF_RGD_ID:10402362
8810304	Foxo4	forkhead box O4	gene	DOID:9003816	Macrocephaly		ISO	RGD:1353756	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
8810304	Foxo4	forkhead box O4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8810304	Foxo4	forkhead box O4	gene	DOID:9008824	Sarcopenia		ISO	RGD:1561201	D	RGD:9068941	20200609	RGD			PMID:16870627|REF_RGD_ID:10402356
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1316914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:27633801
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:0110199	Charcot-Marie-Tooth disease dominant intermediate C		ISO	RGD:1316914	D	RGD:7240710	20180130	OMIM			
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:0110199	Charcot-Marie-Tooth disease dominant intermediate C		ISO	RGD:1316914	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C | ClinVar Annotator: match by term: YARS1-related disorder	PMID:14606043|PMID:16199547|PMID:16429158|PMID:17576681|PMID:19561293|PMID:21384131|PMID:24627108|PMID:25741868|PMID:26138142|PMID:26257172|PMID:26467025|PMID:26975778|PMID:27027447|PMID:28492532|PMID:29302074|PMID:30340945|PMID:3034524|PMID:30373780|PMID:31130284|PMID:31832804|PMID:34352414|PMID:34536092|PMID:34813128|PMID:36307205|PMID:36631979|PMID:37976411|PMID:39504961|PMID:9536098
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34536092
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1316914	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Metachromatic leukodystrophy	PMID:25741868
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34536092
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25741868
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:10907	microcephaly		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34536092
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:1115	sarcoma		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:11252	microcytic anemia		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcytic anemia	PMID:25741868|PMID:28492532|PMID:34352414|PMID:37976411
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:11759	hypochromic anemia		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypochromic anemia	PMID:25741868|PMID:28492532|PMID:34352414|PMID:37976411
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34536092
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:13317	hyperinsulinemic hypoglycemia		ISO	RGD:1316914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia	PMID:27633801
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:2355	anemia		ISO	RGD:1316914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:26467025|PMID:27633801|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34536092
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:3021	acute kidney failure		ISO	RGD:1316914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acute kidney injury	PMID:27633801
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:630	genetic disease		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21384131|PMID:25741868|PMID:26467025|PMID:28492532
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9000988	Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2		ISO	RGD:1316914	D	RGD:7240710	20210728	OMIM			
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9000988	Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2		ISO	RGD:1316914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 | ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2	PMID:25741868|PMID:26467025|PMID:28492532|PMID:28726809|PMID:29302074|PMID:3034524|PMID:31130284|PMID:34352414|PMID:34536092|PMID:37976411
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532|PMID:34352414|PMID:37976411
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:28492532|PMID:34352414|PMID:37976411
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34536092
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532|PMID:34352414|PMID:37976411
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868|PMID:28492532|PMID:34352414|PMID:37976411
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:34352414|PMID:37976411
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9006461	Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease		ISO	RGD:1316914	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	PMID:25741868
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34536092
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9007874	Liver Failure		ISO	RGD:1316914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Liver failure	PMID:27633801
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:26467025|PMID:27633801|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34352414|PMID:34536092|PMID:37976411
8810315	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8810344	Lpcat2	lysophosphatidylcholine acyltransferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8810344	Lpcat2	lysophosphatidylcholine acyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8810344	Lpcat2	lysophosphatidylcholine acyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8810344	Lpcat2	lysophosphatidylcholine acyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:1606279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810344	Lpcat2	lysophosphatidylcholine acyltransferase 2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1606279	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8810344	Lpcat2	lysophosphatidylcholine acyltransferase 2	gene	DOID:3070	high grade glioma		ISO	RGD:1606279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8810344	Lpcat2	lysophosphatidylcholine acyltransferase 2	gene	DOID:3275	thymoma		ISO	RGD:1606279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8810344	Lpcat2	lysophosphatidylcholine acyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8810344	Lpcat2	lysophosphatidylcholine acyltransferase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8810344	Lpcat2	lysophosphatidylcholine acyltransferase 2	gene	DOID:5082	liver cirrhosis	treatment	ISO	RGD:2325051	D	RGD:9068941	20260514	RGD		associated with cholestasis	PMID:23851051|REF_RGD_ID:713997136
8810344	Lpcat2	lysophosphatidylcholine acyltransferase 2	gene	DOID:9000197	Edema	treatment	ISO	RGD:1616465	D	RGD:9068941	20260530	RGD			PMID:23817078|REF_RGD_ID:730454700
8810344	Lpcat2	lysophosphatidylcholine acyltransferase 2	gene	DOID:9006569	Osteolysis Hereditary Multicentric		ISO	RGD:1606279	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Torg-Winchester syndrome	
8810344	Lpcat2	lysophosphatidylcholine acyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8810344	Lpcat2	lysophosphatidylcholine acyltransferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8810344	Lpcat2	lysophosphatidylcholine acyltransferase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8810362	Ldaf1	lipid droplet assembly factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8810376	Gdpd1	glycerophosphodiester phosphodiesterase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8810376	Gdpd1	glycerophosphodiester phosphodiesterase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1349545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810376	Gdpd1	glycerophosphodiester phosphodiesterase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8810376	Gdpd1	glycerophosphodiester phosphodiesterase domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349545	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8810376	Gdpd1	glycerophosphodiester phosphodiesterase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810376	Gdpd1	glycerophosphodiester phosphodiesterase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8810376	Gdpd1	glycerophosphodiester phosphodiesterase domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8810425	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8810425	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:732792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency	PMID:15372108|PMID:17576681|PMID:19259137|PMID:25741868|PMID:28429146|PMID:28492532|PMID:30948790|PMID:31967322|PMID:33629572|PMID:35801790|PMID:38459834|PMID:9536098
8810425	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:0112073	nuclear type mitochondrial complex I deficiency 9		ISO	RGD:732792	D	RGD:7240710	20190315	OMIM			
8810425	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:0112073	nuclear type mitochondrial complex I deficiency 9		ISO	RGD:732792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 9 | ClinVar Annotator: match by term: NDUFS6-related condition	PMID:15372108|PMID:16199547|PMID:17576681|PMID:19259137|PMID:25741868|PMID:28429146|PMID:28492532|PMID:30948790|PMID:31967322|PMID:9536098
8810425	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:732792	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:28492532
8810425	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:10534	stomach cancer		ISO	RGD:732792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8810425	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:1059	intellectual disability		ISO	RGD:732792	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8810425	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:1059	intellectual disability		ISO	RGD:732792	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: intellectual disabilities	PMID:25741868|PMID:28492532
8810425	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:4362	cervical cancer		ISO	RGD:732792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8810425	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:4362	cervical cancer	disease_progression	ISO	RGD:732792	D	RGD:9068941	20200609	RGD		DNA, mRNA:amplification, increased expression:uterine cervix	PMID:18559093|REF_RGD_ID:2302384
8810425	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:630	genetic disease		ISO	RGD:732792	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15372108|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532
8810425	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8810425	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8810433	Rbsn	rabenosyn, RAB effector	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8810433	Rbsn	rabenosyn, RAB effector	gene	DOID:0061158	Kariminejad neurodevelopmental syndrome		ISO	RGD:1313404	D	RGD:7240710	20241016	OMIM			
8810433	Rbsn	rabenosyn, RAB effector	gene	DOID:0061158	Kariminejad neurodevelopmental syndrome		ISO	RGD:1313404	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KARIMINEJAD NEURODEVELOPMENTAL SYNDROME	
8810433	Rbsn	rabenosyn, RAB effector	gene	DOID:1115	sarcoma		ISO	RGD:1313404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810433	Rbsn	rabenosyn, RAB effector	gene	DOID:1909	melanoma		ISO	RGD:1313404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8810433	Rbsn	rabenosyn, RAB effector	gene	DOID:4362	cervical cancer		ISO	RGD:1313404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8810433	Rbsn	rabenosyn, RAB effector	gene	DOID:5041	esophageal cancer		ISO	RGD:1313404	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8810433	Rbsn	rabenosyn, RAB effector	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810433	Rbsn	rabenosyn, RAB effector	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8810433	Rbsn	rabenosyn, RAB effector	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8810433	Rbsn	rabenosyn, RAB effector	gene	DOID:9009179	MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND		ISO	RGD:1313404	D	RGD:7240710	20241016	OMIM			
8810433	Rbsn	rabenosyn, RAB effector	gene	DOID:9009179	MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND		ISO	RGD:1313404	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities	
8810433	Rbsn	rabenosyn, RAB effector	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8810462	Rpl15	ribosomal protein L15	gene	DOID:0111882	Diamond-Blackfan anemia 12		ISO	RGD:736821	D	RGD:7240710	20180130	OMIM			
8810462	Rpl15	ribosomal protein L15	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:736821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8810462	Rpl15	ribosomal protein L15	gene	DOID:9000918	Disease Progression		ISO	RGD:736821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8810476	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8810476	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8810476	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:0080588	agammaglobulinemia 5		ISO	RGD:1323279	D	RGD:7240710	20190327	OMIM			
8810476	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:0080588	agammaglobulinemia 5		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant | ClinVar Annotator: match by term: LRRC8A-related condition	PMID:14660746|PMID:25741868|PMID:28492532
8810476	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:10426	Klippel-Feil syndrome		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Klippel-Feil syndrome	PMID:25741868
8810476	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:10907	microcephaly		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8810476	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:1115	sarcoma		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810476	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
8810476	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:2583	agammaglobulinemia		ISO	RGD:1323279	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8810476	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:2583	agammaglobulinemia		ISO	RGD:1323279	D	RGD:9068941	20200609	RGD			PMID:14660746|REF_RGD_ID:1599837
8810476	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810476	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:674	cleft palate		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
8810476	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:9007661	Dwarfism		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8810476	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8810476	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8810495	Arhgef3	Rho guanine nucleotide exchange factor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8810495	Arhgef3	Rho guanine nucleotide exchange factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8810495	Arhgef3	Rho guanine nucleotide exchange factor 3	gene	DOID:1115	sarcoma		ISO	RGD:1321712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810495	Arhgef3	Rho guanine nucleotide exchange factor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8810495	Arhgef3	Rho guanine nucleotide exchange factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810495	Arhgef3	Rho guanine nucleotide exchange factor 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321712	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8810495	Arhgef3	Rho guanine nucleotide exchange factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8810495	Arhgef3	Rho guanine nucleotide exchange factor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8810528	Extl3	exostosin like glycosyltransferase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8810528	Extl3	exostosin like glycosyltransferase 3	gene	DOID:0080998	acute necrotizing pancreatitis		ISO	RGD:735783	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:16874863
8810528	Extl3	exostosin like glycosyltransferase 3	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:735783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868
8810528	Extl3	exostosin like glycosyltransferase 3	gene	DOID:3565	meningioma		ISO	RGD:735783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningioma	PMID:28492532|PMID:35101336
8810528	Extl3	exostosin like glycosyltransferase 3	gene	DOID:4586	familial meningioma		ISO	RGD:735783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial meningioma	PMID:25741868
8810528	Extl3	exostosin like glycosyltransferase 3	gene	DOID:4667	kyphosis		ISO	RGD:735783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:25741868
8810528	Extl3	exostosin like glycosyltransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810528	Extl3	exostosin like glycosyltransferase 3	gene	DOID:630	genetic disease		ISO	RGD:735783	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8810528	Extl3	exostosin like glycosyltransferase 3	gene	DOID:9001094	Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities		ISO	RGD:735783	D	RGD:7240710	20190315	OMIM			
8810528	Extl3	exostosin like glycosyltransferase 3	gene	DOID:9001094	Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities		ISO	RGD:735783	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: EXTL3-related condition | ClinVar Annotator: match by term: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES | ClinVar Annotator: match by term: Immunoskeletal dysplasia with neurodevelopmental abnormalities	PMID:25741868|PMID:28132690|PMID:28148688|PMID:28492532
8810528	Extl3	exostosin like glycosyltransferase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8810528	Extl3	exostosin like glycosyltransferase 3	gene	DOID:9007661	Dwarfism		ISO	RGD:735783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8810528	Extl3	exostosin like glycosyltransferase 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:735783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8810528	Extl3	exostosin like glycosyltransferase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8810528	Extl3	exostosin like glycosyltransferase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8810551	Jak3	Janus kinase 3	gene	DOID:0050117	disease by infectious agent		ISO	RGD:737593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
8810551	Jak3	Janus kinase 3	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:737593	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23832011
8810551	Jak3	Janus kinase 3	gene	DOID:0050458	juvenile myelomonocytic leukemia	disease_progression	ISO	RGD:737593	D	RGD:9068941	20200609	RGD			PMID:23832011|REF_RGD_ID:11069125
8810551	Jak3	Janus kinase 3	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:737593	D	RGD:9068941	20200609	RGD		DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human)	PMID:21821710|REF_RGD_ID:11531131
8810551	Jak3	Janus kinase 3	gene	DOID:0050865	tongue squamous cell carcinoma	disease_progression	ISO	RGD:2940	D	RGD:9068941	20200609	RGD			PMID:26860129|REF_RGD_ID:11531126
8810551	Jak3	Janus kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8810551	Jak3	Janus kinase 3	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:737593	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
8810551	Jak3	Janus kinase 3	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:737593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adenoid cystic carcinoma	PMID:14615376|PMID:16843266|PMID:17252020|PMID:17433830|PMID:22237106|PMID:22425895|PMID:23832011|PMID:24446122|PMID:25595890|PMID:28492532|PMID:33040328|PMID:35482138
8810551	Jak3	Janus kinase 3	gene	DOID:0080797	nasal type extranodal NK/T-cell lymphoma		ISO	RGD:737593	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22705984|PMID:23689514
8810551	Jak3	Janus kinase 3	gene	DOID:0081042	T-cell prolymphocytic leukemia		ISO	RGD:737593	D	RGD:9068941	20200609	RGD		DNA:missense mutations:exon:pM511I, p.R657Q (human)	PMID:24446122|REF_RGD_ID:11531125
8810551	Jak3	Janus kinase 3	gene	DOID:0081267	graft-versus-host disease	treatment	ISO	RGD:10824	D	RGD:9068941	20200609	RGD			PMID:12010825|REF_RGD_ID:11531124
8810551	Jak3	Janus kinase 3	gene	DOID:0081267	graft-versus-host disease	treatment	ISO	RGD:2940	D	RGD:9068941	20200609	RGD			PMID:11781254|REF_RGD_ID:1600262
8810551	Jak3	Janus kinase 3	gene	DOID:0081312	T-cell non-Hodgkin lymphoma	treatment	ISO	RGD:737593	D	RGD:9068941	20200609	RGD			PMID:24153015|REF_RGD_ID:11531129
8810551	Jak3	Janus kinase 3	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:737593	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative	PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18845095|PMID:19203666|PMID:19282076|PMID:20132407|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22425895|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:26915675|PMID:27484032|PMID:27577878|PMID:27593409|PMID:28109013|PMID:28492532|PMID:28747913|PMID:28916186|PMID:29375547|PMID:30697212|PMID:31440277|PMID:31589898|PMID:32445296|PMID:33040328|PMID:33365035|PMID:7481768|PMID:7659163|PMID:9354668|PMID:9536098|PMID:9753072
8810551	Jak3	Janus kinase 3	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:737593	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative	PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18845095|PMID:19203666|PMID:19282076|PMID:20132407|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22425895|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:28109013|PMID:28492532|PMID:28916186|PMID:29375547|PMID:30697212|PMID:30778343|PMID:31440277|PMID:31589898|PMID:32445296|PMID:33040328|PMID:33365035|PMID:7481768|PMID:7659163|PMID:9354668|PMID:9536098|PMID:9753072
8810551	Jak3	Janus kinase 3	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:737593	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative	PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18845095|PMID:19203666|PMID:19282076|PMID:20132407|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22425895|PMID:23069490|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:26321643|PMID:26545580|PMID:26769277|PMID:26915675|PMID:27484032|PMID:27577878|PMID:27593409|PMID:28109013|PMID:28492532|PMID:28747913|PMID:28916186|PMID:29049190|PMID:29375547|PMID:30177960|PMID:30697212|PMID:30778343|PMID:31440277|PMID:31589898|PMID:32135276|PMID:32215810|PMID:32445296|PMID:32754152|PMID:33040328|PMID:33365035|PMID:35482138|PMID:7481768|PMID:7659163|PMID:9354668|PMID:9536098|PMID:9753072
8810551	Jak3	Janus kinase 3	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:737593	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative	PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18845095|PMID:19203666|PMID:19282076|PMID:19763152|PMID:20132407|PMID:20307669|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22406018|PMID:22425895|PMID:23069490|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:26321643|PMID:26545580|PMID:26769277|PMID:26915675|PMID:27174491|PMID:27484032|PMID:27577878|PMID:27593409|PMID:28109013|PMID:28492532|PMID:28747913|PMID:28916186|PMID:29049190|PMID:29375547|PMID:30032486|PMID:30177960|PMID:30697212|PMID:30778343|PMID:31031743|PMID:31440277|PMID:31589898|PMID:32135276|PMID:32215810|PMID:32445296|PMID:32754152|PMID:33040328|PMID:33365035|PMID:34173127|PMID:35482138|PMID:7481768|PMID:7659163|PMID:8704236|PMID:9354668|PMID:9536098|PMID:9753072
8810551	Jak3	Janus kinase 3	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:737593	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative	PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16190968|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18845095|PMID:19203666|PMID:19282076|PMID:19659508|PMID:19763152|PMID:19889552|PMID:20132407|PMID:20307669|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22406018|PMID:22425895|PMID:23069490|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:26321643|PMID:26545580|PMID:26769277|PMID:26915675|PMID:27174491|PMID:27484032|PMID:27577878|PMID:27593409|PMID:28109013|PMID:28492532|PMID:28747913|PMID:28916186|PMID:28917720|PMID:29049190|PMID:29375547|PMID:30032486|PMID:30177960|PMID:30290665|PMID:30697212|PMID:30778343|PMID:31031743|PMID:31440277|PMID:31589898|PMID:32135276|PMID:32215810|PMID:32445296|PMID:32754152|PMID:32888943|PMID:32921793|PMID:33040328|PMID:33365035|PMID:33628209|PMID:34173127|PMID:34539671|PMID:35482138|PMID:7481768|PMID:7659163|PMID:8704236|PMID:9354668|PMID:9536098|PMID:9753072
8810551	Jak3	Janus kinase 3	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:737593	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative	PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16190968|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18641513|PMID:18845095|PMID:19203666|PMID:19282076|PMID:19659508|PMID:19763152|PMID:19889552|PMID:20132407|PMID:20307669|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22406018|PMID:22425895|PMID:23069490|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:26321643|PMID:26545580|PMID:26769277|PMID:26915675|PMID:27174491|PMID:27484032|PMID:27577878|PMID:27593409|PMID:28109013|PMID:28492532|PMID:28747913|PMID:28916186|PMID:28917720|PMID:29049190|PMID:29375547|PMID:30032486|PMID:30177960|PMID:30290665|PMID:30697212|PMID:30778343|PMID:31031743|PMID:31440277|PMID:31589898|PMID:32135276|PMID:32215810|PMID:32373116|PMID:32445296|PMID:32754152|PMID:32888943|PMID:32921793|PMID:33040328|PMID:33365035|PMID:33628209|PMID:34173127|PMID:34539671|PMID:35482138|PMID:7481768|PMID:7659163|PMID:8704236|PMID:9354668|PMID:9536098|PMID:9753072
8810551	Jak3	Janus kinase 3	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:737593	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative	PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16190968|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18641513|PMID:18845095|PMID:19203666|PMID:19282076|PMID:19659508|PMID:19763152|PMID:19889552|PMID:20132407|PMID:20307669|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22406018|PMID:22425895|PMID:23069490|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:26321643|PMID:26545580|PMID:26769277|PMID:26915675|PMID:27174491|PMID:27484032|PMID:27577878|PMID:27593409|PMID:28109013|PMID:28492532|PMID:28747913|PMID:28916186|PMID:28917720|PMID:29049190|PMID:29375547|PMID:30032486|PMID:30177960|PMID:30290665|PMID:30697212|PMID:30778343|PMID:31031743|PMID:31440277|PMID:31589898|PMID:32135276|PMID:32215810|PMID:32373116|PMID:32445296|PMID:32754152|PMID:32888943|PMID:32921793|PMID:33040328|PMID:33365035|PMID:33628209|PMID:34173127|PMID:34539671|PMID:35482138|PMID:7481768|PMID:7659163|PMID:8704236|PMID:9354668|PMID:9536098|PMID:9753072
8810551	Jak3	Janus kinase 3	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:737593	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative	PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:15644840|PMID:16190968|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18641513|PMID:18845095|PMID:19203666|PMID:19282076|PMID:19659508|PMID:19763152|PMID:19889552|PMID:20132407|PMID:20307669|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22406018|PMID:22425895|PMID:23069490|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:26321643|PMID:26545580|PMID:26769277|PMID:26915675|PMID:27174491|PMID:27484032|PMID:27577878|PMID:27593409|PMID:28109013|PMID:28492532|PMID:28747913|PMID:28916186|PMID:28917720|PMID:29049190|PMID:29375547|PMID:30032486|PMID:30177960|PMID:30290665|PMID:30293248|PMID:30697212|PMID:30778343|PMID:31031743|PMID:31440277|PMID:31589898|PMID:32135276|PMID:32215810|PMID:32373116|PMID:32445296|PMID:32754152|PMID:32888943|PMID:32921793|PMID:33040328|PMID:33365035|PMID:33628209|PMID:34173127|PMID:34539671|PMID:35482138|PMID:7481768|PMID:7659163|PMID:8704236|PMID:9354668|PMID:9536098|PMID:9753072
8810551	Jak3	Janus kinase 3	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:737593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE | ClinVar Annotator: match by term: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative	PMID:10982185|PMID:11668621|PMID:11741532|PMID:14615376|PMID:25741868|PMID:27577878|PMID:28492532|PMID:7481768|PMID:7659163|PMID:9354668
8810551	Jak3	Janus kinase 3	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:737593	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative	PMID:11668621|PMID:14615376|PMID:25741868|PMID:27577878|PMID:28492532|PMID:7481768|PMID:9354668
8810551	Jak3	Janus kinase 3	gene	DOID:0090014	severe combined immunodeficiency 104		ISO	RGD:10824	D	RGD:9068941	20220825	MouseDO		OMIM:608971	
8810551	Jak3	Janus kinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:737593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8810551	Jak3	Janus kinase 3	gene	DOID:1115	sarcoma		ISO	RGD:737593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810551	Jak3	Janus kinase 3	gene	DOID:1324	lung cancer		ISO	RGD:737593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8810551	Jak3	Janus kinase 3	gene	DOID:14069	cerebral malaria		ISO	RGD:10824	D	RGD:9068941	20200609	RGD			PMID:22363534|REF_RGD_ID:11531103
8810551	Jak3	Janus kinase 3	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:737593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25741868|PMID:26446793|PMID:28492532|PMID:35101336
8810551	Jak3	Janus kinase 3	gene	DOID:2058	chronic mucocutaneous candidiasis		ISO	RGD:737593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis	PMID:25741868
8810551	Jak3	Janus kinase 3	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:737593	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	
8810551	Jak3	Janus kinase 3	gene	DOID:3275	thymoma		ISO	RGD:737593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
8810551	Jak3	Janus kinase 3	gene	DOID:4362	cervical cancer		ISO	RGD:737593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8810551	Jak3	Janus kinase 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8810551	Jak3	Janus kinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:737593	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8810551	Jak3	Janus kinase 3	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:737593	D	RGD:9068941	20200609	RGD			PMID:25193870|REF_RGD_ID:11531122
8810551	Jak3	Janus kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8810551	Jak3	Janus kinase 3	gene	DOID:5810	adenosine deaminase deficiency		ISO	RGD:737593	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency	PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:14615376|PMID:17433830|PMID:17644747|PMID:19203666|PMID:21184155|PMID:23384681|PMID:25146434|PMID:25741868|PMID:28492532|PMID:30697212|PMID:30778343|PMID:32754152|PMID:33365035|PMID:34173127|PMID:35482138|PMID:7481768|PMID:9354668|PMID:9753072
8810551	Jak3	Janus kinase 3	gene	DOID:5810	adenosine deaminase deficiency		ISO	RGD:737593	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: SCID DUE TO ADA DEFICIENCY	PMID:11668621|PMID:21184155|PMID:25741868|PMID:28492532|PMID:7481768
8810551	Jak3	Janus kinase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8810551	Jak3	Janus kinase 3	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:737593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:14615376|PMID:15143194|PMID:15644840|PMID:16843266|PMID:17252020|PMID:17433830|PMID:18641513|PMID:21184155|PMID:22237106|PMID:22425895|PMID:23832011|PMID:24446122|PMID:25193870|PMID:25595890|PMID:25741868|PMID:26545580|PMID:26915675|PMID:27484032|PMID:28492532|PMID:28747913|PMID:28916186|PMID:28917720|PMID:30290665|PMID:30293248|PMID:30697212|PMID:30778343|PMID:31031743|PMID:31203817|PMID:31440277|PMID:31456805|PMID:32445296|PMID:33040328|PMID:33365035|PMID:34173127|PMID:35101336|PMID:35482138|PMID:37344829|PMID:7481768|PMID:9354668|PMID:9753072
8810551	Jak3	Janus kinase 3	gene	DOID:627	severe combined immunodeficiency	treatment	ISO	RGD:10824	D	RGD:9068941	20200609	RGD			PMID:9427607|REF_RGD_ID:11531109
8810551	Jak3	Janus kinase 3	gene	DOID:630	genetic disease		ISO	RGD:737593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8810551	Jak3	Janus kinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8810551	Jak3	Janus kinase 3	gene	DOID:707	B-cell lymphoma		ISO	RGD:737593	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24837469
8810551	Jak3	Janus kinase 3	gene	DOID:8761	acute megakaryocytic leukemia		ISO	RGD:737593	D	RGD:9068941	20250116	RGD			PMID:16843266|REF_RGD_ID:11531113
8810551	Jak3	Janus kinase 3	gene	DOID:9000197	Edema	treatment	ISO	RGD:10824	D	RGD:9068941	20200609	RGD		associated with Hypersensitivity, Delayed	PMID:25762693|REF_RGD_ID:11533938
8810551	Jak3	Janus kinase 3	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:2940	D	RGD:9068941	20200609	RGD			PMID:21434883|REF_RGD_ID:11533942
8810551	Jak3	Janus kinase 3	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:10824	D	RGD:9068941	20200609	RGD			PMID:18234077|REF_RGD_ID:11533944
8810551	Jak3	Janus kinase 3	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:2940	D	RGD:9068941	20200609	RGD			PMID:18234077|PMID:21434883|PMID:25762693|REF_RGD_ID:11533938|REF_RGD_ID:11533942|REF_RGD_ID:11533944
8810551	Jak3	Janus kinase 3	gene	DOID:9002669	Hypoxia		ISO	RGD:2940	D	RGD:9068941	20211203	RGD		protein:increased expression:lung	PMID:14703438|REF_RGD_ID:150527843
8810551	Jak3	Janus kinase 3	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:2940	D	RGD:9068941	20200609	RGD			PMID:25012120|REF_RGD_ID:11533939
8810551	Jak3	Janus kinase 3	gene	DOID:9002928	Colonic Neoplasms	treatment	ISO	RGD:2940	D	RGD:9068941	20200609	RGD			PMID:23514809|REF_RGD_ID:11533940
8810551	Jak3	Janus kinase 3	gene	DOID:9003214	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative		ISO	RGD:737593	D	RGD:7240710	20180130	OMIM			
8810551	Jak3	Janus kinase 3	gene	DOID:9003214	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative		ISO	RGD:737593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: JAK3-related condition | ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type	PMID:10900158|PMID:10982185|PMID:11668610|PMID:11668621|PMID:14615376|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:20132407|PMID:20417861|PMID:21050946|PMID:21228398|PMID:21868263|PMID:22237106|PMID:22425895|PMID:23069490|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24446122|PMID:24728327|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25741868|PMID:26915675|PMID:28492532|PMID:28747913|PMID:30778343|PMID:32215810|PMID:32754152|PMID:33040328|PMID:34173127|PMID:34539671|PMID:35482138|PMID:37344829|PMID:7481768|PMID:9354668
8810551	Jak3	Janus kinase 3	gene	DOID:9003507	Premature Birth		ISO	RGD:737593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
8810551	Jak3	Janus kinase 3	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:10824	D	RGD:9068941	20200609	RGD			PMID:22359619|REF_RGD_ID:11531100
8810551	Jak3	Janus kinase 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2940	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:21575160|REF_RGD_ID:11533943
8810551	Jak3	Janus kinase 3	gene	DOID:9006928	Viral Bronchiolitis	severity	ISO	RGD:737593	D	RGD:9068941	20201218	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:26541527|REF_RGD_ID:40902860
8810551	Jak3	Janus kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:11668621|PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:30177960|PMID:30778343|PMID:7481768|PMID:9536098
8810551	Jak3	Janus kinase 3	gene	DOID:9007138	Cd4+ Lymphocyte Deficiency		ISO	RGD:737593	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.C1066R (c.3196T>C) (human)	PMID:25205547|REF_RGD_ID:11531127
8810551	Jak3	Janus kinase 3	gene	DOID:9008299	Mediastinal Neoplasms		ISO	RGD:737593	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24837469
8810551	Jak3	Janus kinase 3	gene	DOID:9008350	NATURAL KILLER CELL ENTEROPATHY		ISO	RGD:737593	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Natural killer cell enteropathy	
8810551	Jak3	Janus kinase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8810551	Jak3	Janus kinase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
8810591	CMTR1	cap methyltransferase 1	gene	DOID:2841	asthma	exacerbates	ISO	RGD:1317204	D	RGD:9068941	20260730	RGD			PMID:26734457|REF_RGD_ID:736802377
8810591	Cmtr1	cap methyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8810622	Snrnp35	small nuclear ribonucleoprotein U11/U12 subunit 35	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8810629	B4galt6	beta-1,4-galactosyltransferase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8810629	B4galt6	beta-1,4-galactosyltransferase 6	gene	DOID:10534	stomach cancer		ISO	RGD:737376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8810629	B4galt6	beta-1,4-galactosyltransferase 6	gene	DOID:2377	multiple sclerosis		ISO	RGD:737376	D	RGD:9068941	20200609	RGD		mRNA:increased expression:white matter	PMID:25216636|REF_RGD_ID:14390079
8810629	B4galt6	beta-1,4-galactosyltransferase 6	gene	DOID:3275	thymoma		ISO	RGD:737376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8810629	B4galt6	beta-1,4-galactosyltransferase 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8810629	B4galt6	beta-1,4-galactosyltransferase 6	gene	DOID:5041	esophageal cancer		ISO	RGD:737376	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8810629	B4galt6	beta-1,4-galactosyltransferase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810629	B4galt6	beta-1,4-galactosyltransferase 6	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:737377	D	RGD:9068941	20200609	RGD		mRNA:increased expression:astrocyte	PMID:25216636|REF_RGD_ID:14390079
8810629	B4galt6	beta-1,4-galactosyltransferase 6	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:737376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8810642	Smim13	small integral membrane protein 13	gene	DOID:1115	sarcoma		ISO	RGD:5508051	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810642	Smim13	small integral membrane protein 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:5508051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810642	Smim13	small integral membrane protein 13	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:5508051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8810648	Gabarapl2	GABA type A receptor associated protein like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8810648	Gabarapl2	GABA type A receptor associated protein like 2	gene	DOID:10534	stomach cancer		ISO	RGD:735450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8810648	Gabarapl2	GABA type A receptor associated protein like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810648	Gabarapl2	GABA type A receptor associated protein like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8810656	Snapc2	small nuclear RNA activating complex polypeptide 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312116	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8810656	Snapc2	small nuclear RNA activating complex polypeptide 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810656	Snapc2	small nuclear RNA activating complex polypeptide 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8810656	Snapc2	small nuclear RNA activating complex polypeptide 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8810656	Snapc2	small nuclear RNA activating complex polypeptide 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8810656	Snapc2	small nuclear RNA activating complex polypeptide 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8810677	Kif13a	kinesin family member 13A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8810677	Kif13a	kinesin family member 13A	gene	DOID:0060135	apraxia		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apraxia	PMID:25741868
8810677	Kif13a	kinesin family member 13A	gene	DOID:10534	stomach cancer		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8810677	Kif13a	kinesin family member 13A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8810677	Kif13a	kinesin family member 13A	gene	DOID:1324	lung cancer		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8810677	Kif13a	kinesin family member 13A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8810677	Kif13a	kinesin family member 13A	gene	DOID:2394	ovarian cancer		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8810677	Kif13a	kinesin family member 13A	gene	DOID:3275	thymoma		ISO	RGD:1317245	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8810677	Kif13a	kinesin family member 13A	gene	DOID:4362	cervical cancer		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8810677	Kif13a	kinesin family member 13A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8810677	Kif13a	kinesin family member 13A	gene	DOID:5041	esophageal cancer		ISO	RGD:1317245	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8810677	Kif13a	kinesin family member 13A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810677	Kif13a	kinesin family member 13A	gene	DOID:6039	uveal melanoma		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8810677	Kif13a	kinesin family member 13A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8810677	Kif13a	kinesin family member 13A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8810677	Kif13a	kinesin family member 13A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8810677	Kif13a	kinesin family member 13A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8810677	Kif13a	kinesin family member 13A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	
8810723	Slc25a35	solute carrier family 25 member 35	gene	DOID:3275	thymoma		ISO	RGD:1605787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8810723	Slc25a35	solute carrier family 25 member 35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810723	Slc25a35	solute carrier family 25 member 35	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1605787	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:17576681|PMID:21447824|PMID:22010171|PMID:25741868|PMID:26903377|PMID:28492532|PMID:30282806|PMID:30847666|PMID:9536098
8810723	Slc25a35	solute carrier family 25 member 35	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1605787	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: RYR2-related condition	PMID:17576681|PMID:21447824|PMID:22010171|PMID:25741868|PMID:26903377|PMID:28492532|PMID:30282806|PMID:30821013|PMID:30847666|PMID:9536098
8810723	Slc25a35	solute carrier family 25 member 35	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1605787	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:17576681|PMID:21447824|PMID:22010171|PMID:25741868|PMID:26903377|PMID:28492532|PMID:30282806|PMID:30821013|PMID:30847666|PMID:30975432|PMID:9536098
8810733	Foxn2	forkhead box N2	gene	DOID:0080600	COVID-19		ISO	RGD:1343664	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8810733	Foxn2	forkhead box N2	gene	DOID:1324	lung cancer		ISO	RGD:1343664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8810733	Foxn2	forkhead box N2	gene	DOID:3070	high grade glioma		ISO	RGD:1343664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8810733	Foxn2	forkhead box N2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343664	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8810733	Foxn2	forkhead box N2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810733	Foxn2	forkhead box N2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1343664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8810733	Foxn2	forkhead box N2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8810733	Foxn2	forkhead box N2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8810755	Lsm1	LSM1 homolog, mRNA degradation associated	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8810755	Lsm1	LSM1 homolog, mRNA degradation associated	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8810755	Lsm1	LSM1 homolog, mRNA degradation associated	gene	DOID:1115	sarcoma		ISO	RGD:1312715	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810755	Lsm1	LSM1 homolog, mRNA degradation associated	gene	DOID:5041	esophageal cancer		ISO	RGD:1312715	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8810755	Lsm1	LSM1 homolog, mRNA degradation associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810755	Lsm1	LSM1 homolog, mRNA degradation associated	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312715	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8810755	Lsm1	LSM1 homolog, mRNA degradation associated	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8810755	Lsm1	LSM1 homolog, mRNA degradation associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8810755	Lsm1	LSM1 homolog, mRNA degradation associated	gene	DOID:9009356	FICUS syndrome		ISO	RGD:1312715	D	RGD:7240710	20250730	OMIM			
8810755	Lsm1	LSM1 homolog, mRNA degradation associated	gene	DOID:9009356	FICUS syndrome		ISO	RGD:1312715	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FICUS SYNDROME	PMID:25741868|PMID:31010896
8810772	Ift81	intraflagellar transport 81	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1606304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:25741868
8810772	Ift81	intraflagellar transport 81	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8810772	Ift81	intraflagellar transport 81	gene	DOID:0080295	short-rib thoracic dysplasia 19 with or without polydactyly		ISO	RGD:1606304	D	RGD:7240710	20190315	OMIM			
8810772	Ift81	intraflagellar transport 81	gene	DOID:0080295	short-rib thoracic dysplasia 19 with or without polydactyly		ISO	RGD:1606304	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IFT81-related condition | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 19 with or without polydactyly	PMID:25741868|PMID:26275418|PMID:27666822|PMID:28460050|PMID:28492532|PMID:32783357|PMID:34448047
8810772	Ift81	intraflagellar transport 81	gene	DOID:10534	stomach cancer		ISO	RGD:1606304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8810772	Ift81	intraflagellar transport 81	gene	DOID:1115	sarcoma		ISO	RGD:1606304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8810772	Ift81	intraflagellar transport 81	gene	DOID:1324	lung cancer		ISO	RGD:1606304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8810772	Ift81	intraflagellar transport 81	gene	DOID:1909	melanoma		ISO	RGD:1606304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8810772	Ift81	intraflagellar transport 81	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8810772	Ift81	intraflagellar transport 81	gene	DOID:3275	thymoma		ISO	RGD:1606304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8810772	Ift81	intraflagellar transport 81	gene	DOID:4362	cervical cancer		ISO	RGD:1606304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8810772	Ift81	intraflagellar transport 81	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
8810772	Ift81	intraflagellar transport 81	gene	DOID:5041	esophageal cancer		ISO	RGD:1606304	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8810772	Ift81	intraflagellar transport 81	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1606304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868|PMID:28492532
8810772	Ift81	intraflagellar transport 81	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8810772	Ift81	intraflagellar transport 81	gene	DOID:6039	uveal melanoma		ISO	RGD:1606304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
8810772	Ift81	intraflagellar transport 81	gene	DOID:630	genetic disease		ISO	RGD:1606304	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8810772	Ift81	intraflagellar transport 81	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8810772	Ift81	intraflagellar transport 81	gene	DOID:8501	fundus dystrophy		ISO	RGD:1606304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:26275418|PMID:27666822|PMID:28460050|PMID:28492532|PMID:3196484|PMID:32783357|PMID:34448047
8810772	Ift81	intraflagellar transport 81	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1606304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868|PMID:28492532
8810772	Ift81	intraflagellar transport 81	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8810772	Ift81	intraflagellar transport 81	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8810772	Ift81	intraflagellar transport 81	gene	DOID:9007661	Dwarfism		ISO	RGD:1606304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
8810772	Ift81	intraflagellar transport 81	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8810772	Ift81	intraflagellar transport 81	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8810772	Ift81	intraflagellar transport 81	gene	DOID:9256	colorectal cancer		ISO	RGD:1606304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8810799	Jmjd8	jumonji domain containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8810799	Jmjd8	jumonji domain containing 8	gene	DOID:10534	stomach cancer		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8810799	Jmjd8	jumonji domain containing 8	gene	DOID:1115	sarcoma		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810799	Jmjd8	jumonji domain containing 8	gene	DOID:1324	lung cancer		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8810799	Jmjd8	jumonji domain containing 8	gene	DOID:3275	thymoma		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8810799	Jmjd8	jumonji domain containing 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8810799	Jmjd8	jumonji domain containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810799	Jmjd8	jumonji domain containing 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8810799	Jmjd8	jumonji domain containing 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8810815	Rbms3	RNA binding motif single stranded interacting protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8810815	Rbms3	RNA binding motif single stranded interacting protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1343809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810815	Rbms3	RNA binding motif single stranded interacting protein 3	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1343809	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28553957
8810815	Rbms3	RNA binding motif single stranded interacting protein 3	gene	DOID:1909	melanoma		ISO	RGD:1343809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8810815	Rbms3	RNA binding motif single stranded interacting protein 3	gene	DOID:3275	thymoma		ISO	RGD:1343809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8810815	Rbms3	RNA binding motif single stranded interacting protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1343809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8810815	Rbms3	RNA binding motif single stranded interacting protein 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8810815	Rbms3	RNA binding motif single stranded interacting protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810815	Rbms3	RNA binding motif single stranded interacting protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8810815	Rbms3	RNA binding motif single stranded interacting protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8810815	Rbms3	RNA binding motif single stranded interacting protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8810815	Rbms3	RNA binding motif single stranded interacting protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8810849	Rad54l	RAD54 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8810849	Rad54l	RAD54 like	gene	DOID:0060058	lymphoma		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8810849	Rad54l	RAD54 like	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1321600	D	RGD:7240710	20180130	OMIM			
8810849	Rad54l	RAD54 like	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1321600	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lymphoma, non-Hodgkin, familial | ClinVar Annotator: match by term: Non-Hodgkin lymphoma	PMID:25741868
8810849	Rad54l	RAD54 like	gene	DOID:0060252	sclerocornea		ISO	RGD:1321601	D	RGD:9068941	20220825	MouseDO		OMIM:181700	
8810849	Rad54l	RAD54 like	gene	DOID:0080875	IDH-mutant anaplastic astrocytoma		ISO	RGD:1321600	D	RGD:8554872	20240123	ClinVar		ClinVar Annotator: match by term: Astrocytoma IDH-mutant	PMID:25741868
8810849	Rad54l	RAD54 like	gene	DOID:1115	sarcoma		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810849	Rad54l	RAD54 like	gene	DOID:1324	lung cancer		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8810849	Rad54l	RAD54 like	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1321600	D	RGD:9068941	20200609	RGD			PMID:10362365|REF_RGD_ID:1599748
8810849	Rad54l	RAD54 like	gene	DOID:1612	breast cancer		ISO	RGD:1321600	D	RGD:7240710	20180711	OMIM			
8810849	Rad54l	RAD54 like	gene	DOID:1612	breast cancer		ISO	RGD:1321600	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: RAD54L-related condition	PMID:25741868
8810849	Rad54l	RAD54 like	gene	DOID:1793	pancreatic cancer		ISO	RGD:1321600	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:rs1048771 (human)	PMID:16540687|REF_RGD_ID:2317365
8810849	Rad54l	RAD54 like	gene	DOID:1909	melanoma		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8810849	Rad54l	RAD54 like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321600	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADENOCARCINOMA, COLONIC, SOMATIC	
8810849	Rad54l	RAD54 like	gene	DOID:2394	ovarian cancer		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer | ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
8810849	Rad54l	RAD54 like	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1321600	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, INVASIVE DUCTAL	
8810849	Rad54l	RAD54 like	gene	DOID:3275	thymoma		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8810849	Rad54l	RAD54 like	gene	DOID:4362	cervical cancer		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8810849	Rad54l	RAD54 like	gene	DOID:4851	pilocytic astrocytoma		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pilocytic astrocytoma	PMID:25741868
8810849	Rad54l	RAD54 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1321600	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8810849	Rad54l	RAD54 like	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1321600	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
8810849	Rad54l	RAD54 like	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321600	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
8810849	Rad54l	RAD54 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810849	Rad54l	RAD54 like	gene	DOID:630	genetic disease		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8810849	Rad54l	RAD54 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8810849	Rad54l	RAD54 like	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1321600	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8810849	Rad54l	RAD54 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321600	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
8810849	Rad54l	RAD54 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8810882	Fam227a	family with sequence similarity 227 member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:6767369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8810882	Fam227a	family with sequence similarity 227 member A	gene	DOID:1115	sarcoma		ISO	RGD:6767369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810882	Fam227a	family with sequence similarity 227 member A	gene	DOID:4362	cervical cancer		ISO	RGD:6767369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8810882	Fam227a	family with sequence similarity 227 member A	gene	DOID:5041	esophageal cancer		ISO	RGD:6767369	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8810882	Fam227a	family with sequence similarity 227 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:6767369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810882	Fam227a	family with sequence similarity 227 member A	gene	DOID:9256	colorectal cancer		ISO	RGD:6767369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8810925	Crlf2	cytokine receptor like factor 2	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1352132	D	RGD:9068941	20260514	RGD		protein:increased expression:alveolar epithelial cell, fibroblast	PMID:24081992|REF_RGD_ID:713963044
8810925	Crlf2	cytokine receptor like factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8810925	Crlf2	cytokine receptor like factor 2	gene	DOID:0051062	ischemic stroke		ISO	RGD:621078	D	RGD:9068941	20260611	RGD		protein:increased expression:cerebral cortex:	PMID:30676545|REF_RGD_ID:151347693
8810925	Crlf2	cytokine receptor like factor 2	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1352132	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24141364
8810925	Crlf2	cytokine receptor like factor 2	gene	DOID:11446	sciatic neuropathy		ISO	RGD:621078	D	RGD:9068941	20260611	RGD		protein:increased expression: sciatic nerve and dorsal root ganglion	PMID:34281158|REF_RGD_ID:730468924
8810925	Crlf2	cytokine receptor like factor 2	gene	DOID:12849	autistic disorder		ISO	RGD:1352132	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
8810925	Crlf2	cytokine receptor like factor 2	gene	DOID:2841	asthma		ISO	RGD:1352132	D	RGD:9068941	20260514	RGD		mRNA:increased expression:peripheral blood mononuclear cell	PMID:26999524|REF_RGD_ID:713699936
8810925	Crlf2	cytokine receptor like factor 2	gene	DOID:2841	asthma		ISO	RGD:621078	D	RGD:9068941	20260611	RGD		protein:lung:increased expression:	PMID:28972901|REF_RGD_ID:730468916
8810925	Crlf2	cytokine receptor like factor 2	gene	DOID:2841	asthma	ameliorates	ISO	RGD:1618389	D	RGD:9068941	20260604	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:18757241|REF_RGD_ID:730466410
8810925	Crlf2	cytokine receptor like factor 2	gene	DOID:4481	allergic rhinitis	severity	ISO	RGD:1352132	D	RGD:9068941	20260514	RGD			PMID:29413340|REF_RGD_ID:713683814
8810925	Crlf2	cytokine receptor like factor 2	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1352132	D	RGD:9068941	20260514	RGD		mRNA,protein:increased expression:nasal cavity mucosa, dendritic cell	PMID:20924287|REF_RGD_ID:713956260
8810925	Crlf2	cytokine receptor like factor 2	gene	DOID:9002801	Recurrence		ISO	RGD:1352132	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22904298
8810925	Crlf2	cytokine receptor like factor 2	gene	DOID:9004055	Fungal Keratitis	treatment	ISO	RGD:1618389	D	RGD:9068941	20260604	RGD			PMID:38593508|REF_RGD_ID:730466411
8810925	Crlf2	cytokine receptor like factor 2	gene	DOID:9004610	Acute Lung Injury	ameliorates	ISO	RGD:1618389	D	RGD:9068941	20260604	RGD			PMID:26617780|REF_RGD_ID:11538612
8810925	Crlf2	cytokine receptor like factor 2	gene	DOID:9006771	Chronic Rhinosinusitis		ISO	RGD:1352132	D	RGD:9068941	20260514	RGD		protein:increased expression:nasal cavity mucosa , epithelium	PMID:21978707|REF_RGD_ID:713693483
8810925	Crlf2	cytokine receptor like factor 2	gene	DOID:9009382	eosinophilic chronic rhinosinusitis		ISO	RGD:1352132	D	RGD:9068941	20260604	RGD		associated with chronic rhinosinusitis with nasal polyps;mRNA,protein:increased expression:mucosa of ethmoidal sinus, epithelial cell, lamina propria	PMID:26095319|REF_RGD_ID:11085923
8810925	Crlf2	cytokine receptor like factor 2	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1352132	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19838194
8810943	Gchfr	GTP cyclohydrolase I feedback regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810943	Gchfr	GTP cyclohydrolase I feedback regulator	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1349515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8810951	Hoxc10	homeobox C10	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1307250	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:verterbra	PMID:18327665|REF_RGD_ID:11354896
8810957	Pdgfrl	platelet derived growth factor receptor like	gene	DOID:1115	sarcoma		ISO	RGD:1317560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810957	Pdgfrl	platelet derived growth factor receptor like	gene	DOID:1324	lung cancer		ISO	RGD:1317560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8810957	Pdgfrl	platelet derived growth factor receptor like	gene	DOID:1909	melanoma		ISO	RGD:1317560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8810957	Pdgfrl	platelet derived growth factor receptor like	gene	DOID:5041	esophageal cancer		ISO	RGD:1317560	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8810957	Pdgfrl	platelet derived growth factor receptor like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810957	Pdgfrl	platelet derived growth factor receptor like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8810957	Pdgfrl	platelet derived growth factor receptor like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317560	D	RGD:7240710	20180130	OMIM			
8810957	Pdgfrl	platelet derived growth factor receptor like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317560	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8810957	Pdgfrl	platelet derived growth factor receptor like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8810957	Pdgfrl	platelet derived growth factor receptor like	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1317560	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	
8810957	Pdgfrl	platelet derived growth factor receptor like	gene	DOID:9256	colorectal cancer		ISO	RGD:1317560	D	RGD:7240710	20200226	OMIM			
8810957	Pdgfrl	platelet derived growth factor receptor like	gene	DOID:9256	colorectal cancer		ISO	RGD:1317560	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8810968	Rbfa	ribosome binding factor A	gene	DOID:1115	sarcoma		ISO	RGD:1323615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810968	Rbfa	ribosome binding factor A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8810968	Rbfa	ribosome binding factor A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8810968	Rbfa	ribosome binding factor A	gene	DOID:5041	esophageal cancer		ISO	RGD:1323615	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8810968	Rbfa	ribosome binding factor A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810968	Rbfa	ribosome binding factor A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8810968	Rbfa	ribosome binding factor A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8810979	LOC102028874	cytochrome P450 2U1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1319774	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8810979	LOC102028874	cytochrome P450 2U1	gene	DOID:0110786	hereditary spastic paraplegia 35		ISO	RGD:1319774	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 35	PMID:16783378|PMID:20301718|PMID:21735565|PMID:23176821|PMID:26936192|PMID:27292318|PMID:28492532|PMID:33107650
8810979	LOC102028874	cytochrome P450 2U1	gene	DOID:0110808	hereditary spastic paraplegia 56		ISO	RGD:1319774	D	RGD:7240710	20180130	OMIM			
8810979	LOC102028874	cytochrome P450 2U1	gene	DOID:0110808	hereditary spastic paraplegia 56		ISO	RGD:1319774	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CYP2U1-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 56 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, WITH OR WITHOUT PSEUDOXANTHOMA ELASTICUM	PMID:14660610|PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28492532|PMID:28600779|PMID:29034544|PMID:33107650|PMID:36166872|PMID:36879630
8810979	LOC102028874	cytochrome P450 2U1	gene	DOID:1059	intellectual disability		ISO	RGD:1319774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28492532|PMID:33107650
8810979	LOC102028874	cytochrome P450 2U1	gene	DOID:10965	spastic diplegia		ISO	RGD:1319774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28492532|PMID:33107650
8810979	LOC102028874	cytochrome P450 2U1	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1319774	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: neurodegenerative disorder	PMID:23176821|PMID:25741868|PMID:28492532|PMID:28600779|PMID:29034544|PMID:36879630
8810979	LOC102028874	cytochrome P450 2U1	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1319774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28492532|PMID:33107650
8810979	LOC102028874	cytochrome P450 2U1	gene	DOID:13250	diarrhea		ISO	RGD:1319774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28492532|PMID:33107650
8810979	LOC102028874	cytochrome P450 2U1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1319774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:28492532
8810979	LOC102028874	cytochrome P450 2U1	gene	DOID:607	paraplegia		ISO	RGD:1319774	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:16199547|PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28120039|PMID:28492532|PMID:28600779|PMID:29034544|PMID:29761117|PMID:33107650|PMID:36879630
8810979	LOC102028874	cytochrome P450 2U1	gene	DOID:630	genetic disease		ISO	RGD:1319774	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28492532|PMID:33107650
8810979	LOC102028874	cytochrome P450 2U1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8810979	LOC102028874	cytochrome P450 2U1	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1319774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic gait	PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28492532|PMID:33107650
8810979	LOC102028874	cytochrome P450 2U1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1319774	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8810979	LOC102028874	cytochrome P450 2U1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1319774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28492532|PMID:33107650
8810979	LOC102028874	cytochrome P450 2U1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319774	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28492532|PMID:28600779|PMID:29034544|PMID:33107650|PMID:36879630
8810989	Ctsb	cathepsin B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8810989	Ctsb	cathepsin B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8810989	Ctsb	cathepsin B	gene	DOID:0060180	colitis		ISO	RGD:1558619	D	RGD:9068941	20200609	RGD		protein:increased activity:cecum, colon, spinal cord	PMID:21802389|REF_RGD_ID:5686873
8810989	Ctsb	cathepsin B	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:621509	D	RGD:9068941	20200609	RGD		protein:increased activity:liver, cytosol (rat)	PMID:17850215|REF_RGD_ID:2315516
8810989	Ctsb	cathepsin B	gene	DOID:0080000	muscular disease		ISO	RGD:734437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7099197
8810989	Ctsb	cathepsin B	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:621509	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney proximal tubule	PMID:8840269|REF_RGD_ID:5686402
8810989	Ctsb	cathepsin B	gene	DOID:0080600	COVID-19		ISO	RGD:734437	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8810989	Ctsb	cathepsin B	gene	DOID:0080998	acute necrotizing pancreatitis		ISO	RGD:621509	D	RGD:9068941	20200609	RGD		protein:increased activity:pancreas (rat)	PMID:17723883|REF_RGD_ID:2315517
8810989	Ctsb	cathepsin B	gene	DOID:10534	stomach cancer		ISO	RGD:734437	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8810989	Ctsb	cathepsin B	gene	DOID:10754	otitis media		ISO	RGD:621509	D	RGD:9068941	20200609	RGD		mRNA:increased expression:middle ear mucosa (rat)	PMID:15179208|REF_RGD_ID:1342442
8810989	Ctsb	cathepsin B	gene	DOID:10941	intracranial aneurysm		ISO	RGD:621509	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased activity:Circle of Willis (rat)	PMID:18635848|REF_RGD_ID:2306495
8810989	Ctsb	cathepsin B	gene	DOID:10941	intracranial aneurysm		ISO	RGD:734437	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral aneurysm (human)	PMID:18635848|REF_RGD_ID:2306495
8810989	Ctsb	cathepsin B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734437	D	RGD:9068941	20200609	RGD		protein:increased activity:transitional cell carcinoma (human)	PMID:15183956|REF_RGD_ID:2315615
8810989	Ctsb	cathepsin B	gene	DOID:1115	sarcoma		ISO	RGD:734437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8810989	Ctsb	cathepsin B	gene	DOID:12842	Guillain-Barre syndrome		ISO	RGD:734437	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:11134381|REF_RGD_ID:5686395
8810989	Ctsb	cathepsin B	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:150333719	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:32748548
8810989	Ctsb	cathepsin B	gene	DOID:14219	renal tubular acidosis		ISO	RGD:621509	D	RGD:9068941	20200609	RGD		protein:decreased activity:renal proximal tubule (rat)	PMID:7873730|REF_RGD_ID:2315534
8810989	Ctsb	cathepsin B	gene	DOID:1612	breast cancer		ISO	RGD:734437	D	RGD:9068941	20200609	RGD		protein:increased expression:breast carcinoma, cytosol (human)	PMID:9508185|REF_RGD_ID:2315523
8810989	Ctsb	cathepsin B	gene	DOID:1909	melanoma		ISO	RGD:734437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8810989	Ctsb	cathepsin B	gene	DOID:1936	atherosclerosis		ISO	RGD:733604	D	RGD:9068941	20200609	RGD			PMID:12213722|REF_RGD_ID:5687152
8810989	Ctsb	cathepsin B	gene	DOID:2316	brain ischemia		ISO	RGD:621509	D	RGD:9068941	20200609	RGD		protein:increased activity:cerebrum (rat)	PMID:18404379|REF_RGD_ID:2315571
8810989	Ctsb	cathepsin B	gene	DOID:2377	multiple sclerosis		ISO	RGD:1558619	D	RGD:9068941	20200609	RGD			PMID:17086443|REF_RGD_ID:5686392
8810989	Ctsb	cathepsin B	gene	DOID:2377	multiple sclerosis		ISO	RGD:734437	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:11134381|REF_RGD_ID:5686395
8810989	Ctsb	cathepsin B	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:734437	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder	PMID:15183956|REF_RGD_ID:2315615
8810989	Ctsb	cathepsin B	gene	DOID:3068	glioblastoma		ISO	RGD:734437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22287159
8810989	Ctsb	cathepsin B	gene	DOID:3068	glioblastoma		ISO	RGD:734437	D	RGD:9068941	20200609	RGD		protein:increased expression:glioma cell (human)	PMID:17898873|REF_RGD_ID:2315515
8810989	Ctsb	cathepsin B	gene	DOID:3070	high grade glioma		ISO	RGD:621509	D	RGD:9068941	20200609	RGD			PMID:17287256|REF_RGD_ID:2315520
8810989	Ctsb	cathepsin B	gene	DOID:3454	brain infarction		ISO	RGD:621509	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortical segment, cytoplasm (rat)	PMID:19941836|REF_RGD_ID:2315502
8810989	Ctsb	cathepsin B	gene	DOID:4450	renal cell carcinoma		ISO	RGD:734437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329
8810989	Ctsb	cathepsin B	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:734437	D	RGD:9068941	20200609	RGD			PMID:9770500|REF_RGD_ID:734853
8810989	Ctsb	cathepsin B	gene	DOID:5041	esophageal cancer		ISO	RGD:734437	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8810989	Ctsb	cathepsin B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8810989	Ctsb	cathepsin B	gene	DOID:576	proteinuria		ISO	RGD:734437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3669494
8810989	Ctsb	cathepsin B	gene	DOID:5844	myocardial infarction		ISO	RGD:621509	D	RGD:9068941	20200609	RGD		protein:increased activity:serum, heart (rat)	PMID:19958779|REF_RGD_ID:2315501
8810989	Ctsb	cathepsin B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8810989	Ctsb	cathepsin B	gene	DOID:885	fascioliasis		ISO	RGD:621509	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver (rat)	PMID:19696938|REF_RGD_ID:2315504
8810989	Ctsb	cathepsin B	gene	DOID:9000918	Disease Progression		ISO	RGD:734437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22287159
8810989	Ctsb	cathepsin B	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:734437	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:12589965|REF_RGD_ID:5686394
8810989	Ctsb	cathepsin B	gene	DOID:9001542	Albuminuria		ISO	RGD:621509	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:19023196|REF_RGD_ID:2315726
8810989	Ctsb	cathepsin B	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:734437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19503093
8810989	Ctsb	cathepsin B	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:621509	D	RGD:9068941	20200609	RGD		mRNA:increased expression:knee joint, synovium (rat)	PMID:17195213|REF_RGD_ID:2315521
8810989	Ctsb	cathepsin B	gene	DOID:9003833	Keratolytic Winter Erythema		ISO	RGD:734437	D	RGD:7240710	20190315	OMIM			
8810989	Ctsb	cathepsin B	gene	DOID:9003833	Keratolytic Winter Erythema		ISO	RGD:734437	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: CTSB-related condition	PMID:25741868|PMID:28492532
8810989	Ctsb	cathepsin B	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:621509	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex, mitochondrion (rat)	PMID:18938146|REF_RGD_ID:2315506
8810989	Ctsb	cathepsin B	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:734437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19700239|PMID:19747051
8810989	Ctsb	cathepsin B	gene	DOID:9004871	Mercury Poisoning, Nervous System		ISO	RGD:621509	D	RGD:9068941	20200609	RGD			PMID:18638529|REF_RGD_ID:2315510
8810989	Ctsb	cathepsin B	gene	DOID:9005166	Contusions		ISO	RGD:621509	D	RGD:9068941	20211224	RGD		mRNA, protein:increased expression, increased activity:gastrocnemius (rat)	PMID:11788364|REF_RGD_ID:631244
8810989	Ctsb	cathepsin B	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:621509	D	RGD:9068941	20200609	RGD		protein:decreased activity:glomerulus (rat)	PMID:10393385|REF_RGD_ID:2315531
8810989	Ctsb	cathepsin B	gene	DOID:9005749	Necrosis		ISO	RGD:734437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22287159
8810989	Ctsb	cathepsin B	gene	DOID:9006487	Reoviridae Infections		ISO	RGD:1558619	D	RGD:9068941	20200609	RGD			PMID:19640986|REF_RGD_ID:5686877
8810989	Ctsb	cathepsin B	gene	DOID:9006684	Inflammatory Breast Neoplasms		ISO	RGD:734437	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:32512068
8810989	Ctsb	cathepsin B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8810989	Ctsb	cathepsin B	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:621509	D	RGD:9068941	20200609	RGD		protein:increased expression:retina (rat)	PMID:18775855|REF_RGD_ID:2315508
8810989	Ctsb	cathepsin B	gene	DOID:9008444	Skeletal Muscle Injuries		ISO	RGD:621509	D	RGD:9068941	20211217	RGD		protein:increased activity:gastrocnemius (rat)	PMID:11788364|REF_RGD_ID:631244
8810989	Ctsb	cathepsin B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8810989	Ctsb	cathepsin B	gene	DOID:9351	diabetes mellitus	onset	ISO	RGD:734437	D	RGD:9068941	20200609	RGD		DNA:transversion:cds:p.L26V (human)	PMID:18706099|REF_RGD_ID:2315528
8810989	Ctsb	cathepsin B	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:734437	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:pancreatic islet (human)	PMID:19367387|REF_RGD_ID:2315527
8810989	Ctsb	cathepsin B	gene	DOID:9452	steatotic liver disease		ISO	RGD:621509	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased activity:liver, cytosol (rat)	PMID:18452148|REF_RGD_ID:2315513
8810989	Ctsb	cathepsin B	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	ISO	RGD:1558619	D	RGD:9068941	20200609	RGD			PMID:19664906|REF_RGD_ID:2315524
8811003	Siral2	SIR2 antiphage like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8811003	Siral2	SIR2 antiphage like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8811003	Siral2	SIR2 antiphage like 2	gene	DOID:1115	sarcoma		ISO	RGD:1345510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8811003	Siral2	SIR2 antiphage like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8811003	Siral2	SIR2 antiphage like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1345510	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8811003	Siral2	SIR2 antiphage like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811017	Znf3	zinc finger protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1348770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8811017	Znf3	zinc finger protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1348770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8811017	Znf3	zinc finger protein 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1348770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8811017	Znf3	zinc finger protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1348770	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8811017	Znf3	zinc finger protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811017	Znf3	zinc finger protein 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1348770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8811067	Krt17	keratin 17	gene	DOID:0050449	pachyonychia congenita		ISO	RGD:1353171	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8811067	Krt17	keratin 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8811067	Krt17	keratin 17	gene	DOID:0080082	nonsyndromic congenital nail disorder 4		ISO	RGD:1353171	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 4	PMID:25741868
8811067	Krt17	keratin 17	gene	DOID:0111556	steatocystoma multiplex		ISO	RGD:1353171	D	RGD:7240710	20180130	OMIM			
8811067	Krt17	keratin 17	gene	DOID:0111556	steatocystoma multiplex		ISO	RGD:1353171	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Steatocystoma multiplex	PMID:11809119|PMID:22336949|PMID:24611874|PMID:25741868|PMID:25946540|PMID:26165312|PMID:28492532|PMID:29218738|PMID:31823354|PMID:9767294
8811067	Krt17	keratin 17	gene	DOID:2121	ectodermal dysplasia	susceptibility	ISO	RGD:1353171	D	RGD:9068941	20200609	RGD		protein:mutation: ; N92D; pachyonychia congenita, OMIM:167210	PMID:7539673|REF_RGD_ID:1600184
8811067	Krt17	keratin 17	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8811067	Krt17	keratin 17	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1353171	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:20871598|PMID:36428691
8811067	Krt17	keratin 17	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1353171	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
8811067	Krt17	keratin 17	gene	DOID:4362	cervical cancer		ISO	RGD:1353171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8811067	Krt17	keratin 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811067	Krt17	keratin 17	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353171	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8811067	Krt17	keratin 17	gene	DOID:630	genetic disease		ISO	RGD:1353171	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11809119|PMID:22336949|PMID:24611874|PMID:25741868|PMID:25946540|PMID:26165312|PMID:28492532|PMID:29218738|PMID:31823354|PMID:9767294
8811067	Krt17	keratin 17	gene	DOID:9001341	Chloracne		ISO	RGD:1353171	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21237254
8811067	Krt17	keratin 17	gene	DOID:9004213	Pachyonychia Congenita 2		ISO	RGD:1353171	D	RGD:7240710	20190327	OMIM			
8811067	Krt17	keratin 17	gene	DOID:9004213	Pachyonychia Congenita 2		ISO	RGD:1353171	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: KRT17-related condition | ClinVar Annotator: match by term: PACHYONYCHIA CONGENITA 2 | ClinVar Annotator: match by term: PACHYONYCHIA CONGENITA, JACKSON-LAWLER TYPE | ClinVar Annotator: match by term: Pachyonychia congenita 2 | ClinVar Annotator: match by term: pachyonychia congenita 2	PMID:11809119|PMID:17576681|PMID:22336949|PMID:24611874|PMID:25741868|PMID:25946540|PMID:26165312|PMID:28492532|PMID:29218738|PMID:31823354|PMID:9536098|PMID:9767294
8811067	Krt17	keratin 17	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1353171	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26168014
8811067	Krt17	keratin 17	gene	DOID:9008109	Sebocystomatosis		ISO	RGD:1353171	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sebocystomatosis	PMID:22336949|PMID:25741868|PMID:28492532|PMID:31823354
8811079	Nfkbiz	NFKB inhibitor zeta	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1553089	D	RGD:9068941	20220825	MouseDO			
8811079	Nfkbiz	NFKB inhibitor zeta	gene	DOID:0060058	lymphoma		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8811079	Nfkbiz	NFKB inhibitor zeta	gene	DOID:10534	stomach cancer		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8811079	Nfkbiz	NFKB inhibitor zeta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8811079	Nfkbiz	NFKB inhibitor zeta	gene	DOID:1115	sarcoma		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8811079	Nfkbiz	NFKB inhibitor zeta	gene	DOID:1324	lung cancer		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8811079	Nfkbiz	NFKB inhibitor zeta	gene	DOID:2394	ovarian cancer		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8811079	Nfkbiz	NFKB inhibitor zeta	gene	DOID:3310	atopic dermatitis		ISO	RGD:1553089	D	RGD:9068941	20220825	MouseDO		OMIM:603165	
8811079	Nfkbiz	NFKB inhibitor zeta	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8811079	Nfkbiz	NFKB inhibitor zeta	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8811079	Nfkbiz	NFKB inhibitor zeta	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8811079	Nfkbiz	NFKB inhibitor zeta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811079	Nfkbiz	NFKB inhibitor zeta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8811079	Nfkbiz	NFKB inhibitor zeta	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350232	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8811079	Nfkbiz	NFKB inhibitor zeta	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8811079	Nfkbiz	NFKB inhibitor zeta	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8811079	Nfkbiz	NFKB inhibitor zeta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8811079	Nfkbiz	NFKB inhibitor zeta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8811079	Nfkbiz	NFKB inhibitor zeta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8811122	Atn1	atrophin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8811122	Atn1	atrophin 1	gene	DOID:0050847	sleep apnea		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:30827498
8811122	Atn1	atrophin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8811122	Atn1	atrophin 1	gene	DOID:0060162	dentatorubral-pallidoluysian atrophy		ISO	RGD:1352790	D	RGD:7240710	20180725	OMIM			
8811122	Atn1	atrophin 1	gene	DOID:0060246	MASA syndrome		ISO	RGD:1352790	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: X-linked hydrocephalus syndrome	PMID:25741868
8811122	Atn1	atrophin 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:30827498
8811122	Atn1	atrophin 1	gene	DOID:1059	intellectual disability		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868
8811122	Atn1	atrophin 1	gene	DOID:10907	microcephaly		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8811122	Atn1	atrophin 1	gene	DOID:12849	autistic disorder		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
8811122	Atn1	atrophin 1	gene	DOID:1909	melanoma		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8811122	Atn1	atrophin 1	gene	DOID:3275	thymoma		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8811122	Atn1	atrophin 1	gene	DOID:5419	schizophrenia		ISO	RGD:1352790	D	RGD:9068941	20200609	RGD			PMID:9184318|REF_RGD_ID:1358440
8811122	Atn1	atrophin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811122	Atn1	atrophin 1	gene	DOID:630	genetic disease		ISO	RGD:1352790	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28135719|PMID:30827498
8811122	Atn1	atrophin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8811122	Atn1	atrophin 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:30827498
8811122	Atn1	atrophin 1	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1352790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10814707
8811122	Atn1	atrophin 1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:30827498
8811122	Atn1	atrophin 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:30827498
8811122	Atn1	atrophin 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:30827498
8811122	Atn1	atrophin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8811122	Atn1	atrophin 1	gene	DOID:9007455	Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies		ISO	RGD:1352790	D	RGD:7240710	20190814	OMIM			
8811122	Atn1	atrophin 1	gene	DOID:9007455	Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies		ISO	RGD:1352790	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATN1-related condition | ClinVar Annotator: match by term: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES | ClinVar Annotator: match by term: Congenital ATN1 related disorder | ClinVar Annotator: match by term: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	PMID:25741868
8811122	Atn1	atrophin 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:30827498
8811142	Mark4	microtubule affinity regulating kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1321076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8811142	Mark4	microtubule affinity regulating kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8811142	Mark4	microtubule affinity regulating kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1321076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8811142	Mark4	microtubule affinity regulating kinase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8811142	Mark4	microtubule affinity regulating kinase 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8811142	Mark4	microtubule affinity regulating kinase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1321076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8811142	Mark4	microtubule affinity regulating kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1321076	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8811142	Mark4	microtubule affinity regulating kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811142	Mark4	microtubule affinity regulating kinase 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1321076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8811142	Mark4	microtubule affinity regulating kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8811142	Mark4	microtubule affinity regulating kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8811176	Gnpnat1	glucosamine-phosphate N-acetyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8811176	Gnpnat1	glucosamine-phosphate N-acetyltransferase 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1351197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8811176	Gnpnat1	glucosamine-phosphate N-acetyltransferase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8811176	Gnpnat1	glucosamine-phosphate N-acetyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811176	Gnpnat1	glucosamine-phosphate N-acetyltransferase 1	gene	DOID:9001924	RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE		ISO	RGD:1351197	D	RGD:7240710	20241106	OMIM			
8811176	Gnpnat1	glucosamine-phosphate N-acetyltransferase 1	gene	DOID:9001924	RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE		ISO	RGD:1351197	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rhizomelic dysplasia, Ain-Naz type	PMID:25741868
8811176	Gnpnat1	glucosamine-phosphate N-acetyltransferase 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1351197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8811176	Gnpnat1	glucosamine-phosphate N-acetyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8811189	Slc6a9	solute carrier family 6 member 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8811189	Slc6a9	solute carrier family 6 member 9	gene	DOID:0060250	idiopathic scoliosis		ISO	RGD:732096	D	RGD:7240710	20260722	OMIM			
8811189	Slc6a9	solute carrier family 6 member 9	gene	DOID:0060250	idiopathic scoliosis		ISO	RGD:732096	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: SLC6A9-related condition | ClinVar Annotator: match by term: SUSCEPTIBILITY TO ISOLATED SCOLIOSIS 6	PMID:28492532
8811189	Slc6a9	solute carrier family 6 member 9	gene	DOID:10283	prostate cancer		ISO	RGD:732096	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:28492532
8811189	Slc6a9	solute carrier family 6 member 9	gene	DOID:10283	prostate cancer		ISO	RGD:732096	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	PMID:28492532
8811189	Slc6a9	solute carrier family 6 member 9	gene	DOID:10534	stomach cancer		ISO	RGD:732096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8811189	Slc6a9	solute carrier family 6 member 9	gene	DOID:1324	lung cancer		ISO	RGD:732096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8811189	Slc6a9	solute carrier family 6 member 9	gene	DOID:1909	melanoma		ISO	RGD:732096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8811189	Slc6a9	solute carrier family 6 member 9	gene	DOID:3275	thymoma		ISO	RGD:732096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
8811189	Slc6a9	solute carrier family 6 member 9	gene	DOID:5041	esophageal cancer		ISO	RGD:732096	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
8811189	Slc6a9	solute carrier family 6 member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811189	Slc6a9	solute carrier family 6 member 9	gene	DOID:630	genetic disease		ISO	RGD:732096	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8811189	Slc6a9	solute carrier family 6 member 9	gene	DOID:670	amphetamine abuse		ISO	RGD:732096	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17582620
8811189	Slc6a9	solute carrier family 6 member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8811189	Slc6a9	solute carrier family 6 member 9	gene	DOID:9000197	Edema		ISO	RGD:732096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema	
8811189	Slc6a9	solute carrier family 6 member 9	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:732096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8811189	Slc6a9	solute carrier family 6 member 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8811189	Slc6a9	solute carrier family 6 member 9	gene	DOID:9007710	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE		ISO	RGD:732096	D	RGD:7240710	20260722	OMIM			
8811189	Slc6a9	solute carrier family 6 member 9	gene	DOID:9007710	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE		ISO	RGD:732096	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE | ClinVar Annotator: match by term: SLC6A9-related condition	PMID:27481395|PMID:27773429|PMID:28492532
8811189	Slc6a9	solute carrier family 6 member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8811189	Slc6a9	solute carrier family 6 member 9	gene	DOID:9268	glycine encephalopathy		ISO	RGD:732097	D	RGD:9068941	20220825	MouseDO		OMIM:605899	
8811243	Tm9sf4	transmembrane 9 superfamily member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8811243	Tm9sf4	transmembrane 9 superfamily member 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1317150	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8811243	Tm9sf4	transmembrane 9 superfamily member 4	gene	DOID:10534	stomach cancer		ISO	RGD:1317150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8811243	Tm9sf4	transmembrane 9 superfamily member 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8811243	Tm9sf4	transmembrane 9 superfamily member 4	gene	DOID:1909	melanoma		ISO	RGD:1317150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8811243	Tm9sf4	transmembrane 9 superfamily member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1317150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8811243	Tm9sf4	transmembrane 9 superfamily member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811243	Tm9sf4	transmembrane 9 superfamily member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8811243	Tm9sf4	transmembrane 9 superfamily member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8811268	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8811268	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:10316	pneumoconiosis		ISO	RGD:1602314	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506645
8811268	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8811268	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8811268	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:1324	lung cancer		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8811268	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:3275	thymoma		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8811268	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8811268	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:4362	cervical cancer		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8811268	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:5041	esophageal cancer		ISO	RGD:1602314	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8811268	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811268	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8811268	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8811268	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8811292	Grn	granulin precursor	gene	DOID:0050784	primary progressive multiple sclerosis		ISO	RGD:1345254	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluids	PMID:21613335|REF_RGD_ID:5509591
8811292	Grn	granulin precursor	gene	DOID:0050784	primary progressive multiple sclerosis	susceptibility	ISO	RGD:1345254	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs2879096, rs4792938(human)	PMID:20463744|REF_RGD_ID:5509596
8811292	Grn	granulin precursor	gene	DOID:0060672	frontotemporal dementia 2		ISO	RGD:1345254	D	RGD:7240710	20180130	OMIM			
8811292	Grn	granulin precursor	gene	DOID:0060672	frontotemporal dementia 2		ISO	RGD:1345254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dementia, hereditary dysphasic disinhibition | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA 2 | ClinVar Annotator: match by term: GRN-Related Frontotemporal Dementia | ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	PMID:12459547|PMID:16199547|PMID:16862115|PMID:16862116|PMID:16950801|PMID:16983685|PMID:17071927|PMID:17228326|PMID:17345602|PMID:17371905|PMID:17436289|PMID:17576681|PMID:17698705|PMID:17917583|PMID:17923627|PMID:17950702|PMID:17984093|PMID:18183624|PMID:18184915|PMID:18192287|PMID:18234697|PMID:18245784|PMID:18322394|PMID:18359860|PMID:18464284|PMID:18543312|PMID:18565828|PMID:18703462|PMID:18838661|PMID:19020205|PMID:19030774|PMID:19133655|PMID:19158106|PMID:19204154|PMID:19288468|PMID:19618231|PMID:19649643|PMID:19884572|PMID:20020531|PMID:20028451|PMID:20142524|PMID:20142525|PMID:20301545|PMID:20373362|PMID:20582989|PMID:21482928|PMID:21695656|PMID:22312439|PMID:22459598|PMID:22608501|PMID:22818528|PMID:22995991|PMID:23315997|PMID:23596077|PMID:23609919|PMID:23624518|PMID:23742080|PMID:23759146|PMID:23770887|PMID:24022032|PMID:24081456|PMID:24387985|PMID:24494724|PMID:24814951|PMID:25104557|PMID:25333068|PMID:25525159|PMID:25558820|PMID:25715738|PMID:25741868|PMID:26159191|PMID:26460020|PMID:26467025|PMID:26652843|PMID:26811050|PMID:27082848|PMID:27311648|PMID:27553520|PMID:27567822|PMID:27632209|PMID:27790088|PMID:28492532|PMID:28543767|PMID:28664756|PMID:29036611|PMID:29091718|PMID:29339765|PMID:29486463|PMID:29525180|PMID:29530724|PMID:29724592|PMID:29874572|PMID:30054184|PMID:30090657|PMID:30279455|PMID:30530974|PMID:30545478|PMID:30954774|PMID:31031559|PMID:31182772|PMID:31262553|PMID:31600775|PMID:31810826|PMID:31914217|PMID:32028661|PMID:32317127|PMID:32474471|PMID:32483926|PMID:32507413|PMID:32843152|PMID:33016921|PMID:33543123|PMID:33601107|PMID:33980708|PMID:34162492|PMID:34275688|PMID:34305575|PMID:34544842|PMID:34573259|PMID:34620513|PMID:34720994|PMID:35085262|PMID:35120450|PMID:35531120|PMID:35861376|PMID:35896380|PMID:36294886|PMID:36641371|PMID:37895139|PMID:37899057|PMID:38203682|PMID:40055834|PMID:9536098
8811292	Grn	granulin precursor	gene	DOID:0080855	Parkinsonism		ISO	RGD:1345254	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	
8811292	Grn	granulin precursor	gene	DOID:0110732	neuronal ceroid lipofuscinosis 11		ISO	RGD:1345254	D	RGD:7240710	20180130	OMIM			
8811292	Grn	granulin precursor	gene	DOID:0110732	neuronal ceroid lipofuscinosis 11		ISO	RGD:1345254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 11 | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 11	PMID:12459547|PMID:16862115|PMID:16862116|PMID:16950801|PMID:16983685|PMID:17228326|PMID:17345602|PMID:17371905|PMID:17436289|PMID:17576681|PMID:17698705|PMID:17917583|PMID:17984093|PMID:18183624|PMID:18184915|PMID:18192287|PMID:18234697|PMID:18322394|PMID:18359860|PMID:18464284|PMID:18543312|PMID:18565828|PMID:18703462|PMID:18838661|PMID:19020205|PMID:19204154|PMID:19288468|PMID:19884572|PMID:20020531|PMID:20028451|PMID:20142524|PMID:21482928|PMID:21695656|PMID:22312439|PMID:22608501|PMID:22906081|PMID:22995991|PMID:23315997|PMID:23596077|PMID:23624518|PMID:23759146|PMID:23770887|PMID:23813535|PMID:24022032|PMID:24494724|PMID:24814951|PMID:25104557|PMID:25333068|PMID:25525159|PMID:25715738|PMID:25741868|PMID:26159191|PMID:26460020|PMID:26467025|PMID:26652843|PMID:26811050|PMID:27082848|PMID:27311648|PMID:27632209|PMID:27790088|PMID:28000352|PMID:28492532|PMID:29036611|PMID:29091718|PMID:29486463|PMID:29874572|PMID:30279455|PMID:30530974|PMID:31031559|PMID:31262553|PMID:31600775|PMID:31855245|PMID:32317127|PMID:32483926|PMID:32507413|PMID:33016921|PMID:33351065|PMID:33543123|PMID:33980708|PMID:34162492|PMID:34305575|PMID:34620513|PMID:35120450|PMID:35531120|PMID:35896380|PMID:37899057|PMID:38203682|PMID:9536098
8811292	Grn	granulin precursor	gene	DOID:10534	stomach cancer		ISO	RGD:1345254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8811292	Grn	granulin precursor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1345254	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Alzheimer disease	PMID:16199547|PMID:16862116|PMID:16950801|PMID:22608501|PMID:28492532|PMID:30279455|PMID:31031559
8811292	Grn	granulin precursor	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:1345254	D	RGD:9068941	20200609	RGD		DNA:deletion:exon:c.154delA(human)	PMID:20142525|REF_RGD_ID:5509601
8811292	Grn	granulin precursor	gene	DOID:10652	Alzheimer's disease	severity	ISO	RGD:62275	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:microglia, neuron:	PMID:19557827|REF_RGD_ID:5509606
8811292	Grn	granulin precursor	gene	DOID:1115	sarcoma		ISO	RGD:1345254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8811292	Grn	granulin precursor	gene	DOID:12387	nephrogenic diabetes insipidus		ISO	RGD:62275	D	RGD:9068941	20220825	MouseDO		OMIM:125800 | OMIM:304800	
8811292	Grn	granulin precursor	gene	DOID:12849	autistic disorder		ISO	RGD:1345254	D	RGD:9068941	20260709	RGD		protein:decreased expression:plasma	PMID:21892962|REF_RGD_ID:5509590
8811292	Grn	granulin precursor	gene	DOID:1307	dementia		ISO	RGD:1345254	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17436289|PMID:18543312
8811292	Grn	granulin precursor	gene	DOID:1307	dementia	onset	ISO	RGD:1345254	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :rs1990622(human)	PMID:21220649|REF_RGD_ID:5509592
8811292	Grn	granulin precursor	gene	DOID:1324	lung cancer		ISO	RGD:1345254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8811292	Grn	granulin precursor	gene	DOID:14330	Parkinson's disease		ISO	RGD:1345254	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:23398167|REF_RGD_ID:10401642
8811292	Grn	granulin precursor	gene	DOID:14330	Parkinson's disease	no_association	ISO	RGD:1345254	D	RGD:9068941	20200609	RGD		DNA:SNP:3' utr:*78C>T (rs5848) (human)	PMID:19473366|REF_RGD_ID:10401644
8811292	Grn	granulin precursor	gene	DOID:1824	status epilepticus		ISO	RGD:61983	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain	PMID:23887054|REF_RGD_ID:10401660
8811292	Grn	granulin precursor	gene	DOID:1909	melanoma		ISO	RGD:1345254	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
8811292	Grn	granulin precursor	gene	DOID:1936	atherosclerosis		ISO	RGD:1345254	D	RGD:9068941	20200609	RGD		protein:increased expression:smooth muscle cell, macrophage	PMID:19321167|REF_RGD_ID:5509781
8811292	Grn	granulin precursor	gene	DOID:2377	multiple sclerosis		ISO	RGD:1345254	D	RGD:9068941	20200609	RGD		protein:increased expression:macrophage, microglia	PMID:21613335|REF_RGD_ID:5509591
8811292	Grn	granulin precursor	gene	DOID:2378	relapsing-remitting multiple sclerosis	disease_progression	ISO	RGD:1345254	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluids	PMID:21613335|REF_RGD_ID:5509591
8811292	Grn	granulin precursor	gene	DOID:3312	bipolar disorder		ISO	RGD:1345254	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:24581833|REF_RGD_ID:10401641
8811292	Grn	granulin precursor	gene	DOID:332	amyotrophic lateral sclerosis	disease_progression	ISO	RGD:1345254	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord, microglia	PMID:21107132|REF_RGD_ID:5509593
8811292	Grn	granulin precursor	gene	DOID:332	amyotrophic lateral sclerosis	disease_progression	ISO	RGD:62275	D	RGD:9068941	20200609	RGD			PMID:21107132|REF_RGD_ID:5509593
8811292	Grn	granulin precursor	gene	DOID:332	amyotrophic lateral sclerosis	onset	ISO	RGD:1345254	D	RGD:9068941	20200609	RGD		DNA:mutations: :	PMID:18184915|REF_RGD_ID:5509619
8811292	Grn	granulin precursor	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:62275	D	RGD:9068941	20200609	RGD			PMID:23972823|REF_RGD_ID:10401661
8811292	Grn	granulin precursor	gene	DOID:4362	cervical cancer		ISO	RGD:1345254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8811292	Grn	granulin precursor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811292	Grn	granulin precursor	gene	DOID:630	genetic disease		ISO	RGD:1345254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12459547|PMID:16950801|PMID:17228326|PMID:17345602|PMID:17371905|PMID:17436289|PMID:17576681|PMID:18184915|PMID:18359860|PMID:18464284|PMID:18543312|PMID:18565828|PMID:18838661|PMID:19020205|PMID:19204154|PMID:20020531|PMID:20028451|PMID:20142524|PMID:22312439|PMID:22995991|PMID:23759146|PMID:23770887|PMID:25104557|PMID:25333068|PMID:25715738|PMID:25741868|PMID:26159191|PMID:26460020|PMID:26467025|PMID:26652843|PMID:26811050|PMID:27632209|PMID:27790088|PMID:28492532|PMID:28717666|PMID:29091718|PMID:29149916|PMID:29486463|PMID:29525180|PMID:30279455|PMID:31031559|PMID:32028661|PMID:32317127|PMID:32483926|PMID:32507413|PMID:32705489|PMID:33543123|PMID:34162492|PMID:34544842|PMID:35531120|PMID:35896380|PMID:37899057|PMID:38203682|PMID:9536098
8811292	Grn	granulin precursor	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:62275	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:spinal cord:	PMID:19946692|REF_RGD_ID:5509603
8811292	Grn	granulin precursor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1345254	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8811292	Grn	granulin precursor	gene	DOID:9002031	Frontotemporal Lobar Degeneration		ISO	RGD:1345254	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20154673
8811292	Grn	granulin precursor	gene	DOID:9002031	Frontotemporal Lobar Degeneration		ISO	RGD:1345254	D	RGD:9068941	20200609	RGD		DNA, protein:mutations, decreased expression:plasma:multiple	PMID:19158106|REF_RGD_ID:10401634
8811292	Grn	granulin precursor	gene	DOID:9002031	Frontotemporal Lobar Degeneration		ISO	RGD:1345254	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation, missense mutations, nonsense mutation:exon:multiple	PMID:17228326|REF_RGD_ID:10401647
8811292	Grn	granulin precursor	gene	DOID:9002031	Frontotemporal Lobar Degeneration		ISO	RGD:1345254	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:22797721|REF_RGD_ID:10401637
8811292	Grn	granulin precursor	gene	DOID:9002031	Frontotemporal Lobar Degeneration		ISO	RGD:1345254	D	RGD:9068941	20200609	RGD		DNA:mutation:intron:IVS6-1G>A (human)	PMID:17950702|REF_RGD_ID:10401638
8811292	Grn	granulin precursor	gene	DOID:9002031	Frontotemporal Lobar Degeneration	onset	ISO	RGD:1345254	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs9897526 (human)	PMID:18192287|REF_RGD_ID:10401650
8811292	Grn	granulin precursor	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:62275	D	RGD:9068941	20200609	RGD			PMID:21393509|REF_RGD_ID:5509782
8811292	Grn	granulin precursor	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1345254	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21820214
8811292	Grn	granulin precursor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:16862116|PMID:16950801|PMID:17698705|PMID:18245784|PMID:20142524|PMID:22312439|PMID:22608501|PMID:23117491|PMID:25525159|PMID:25546130|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29614680|PMID:30279455|PMID:30528841|PMID:31122931
8811292	Grn	granulin precursor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8811292	Grn	granulin precursor	gene	DOID:9008023	Memory Disorders		ISO	RGD:1345254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
8811292	Grn	granulin precursor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: global developmental delay	
8811292	Grn	granulin precursor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8811292	Grn	granulin precursor	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1345254	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	PMID:16862116|PMID:16950801|PMID:17576681|PMID:22608501|PMID:25741868|PMID:28492532|PMID:29724592|PMID:30279455|PMID:30992141|PMID:9536098
8811340	Nrl	neural retina leucine zipper	gene	DOID:0061232	enhanced S-cone syndrome 2		ISO	RGD:1313083	D	RGD:7240710	20260203	OMIM			
8811340	Nrl	neural retina leucine zipper	gene	DOID:0061232	enhanced S-cone syndrome 2		ISO	RGD:1313083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ENHANCED S-CONE SYNDROME 2	PMID:11694879|PMID:15591106|PMID:17335001|PMID:25412400|PMID:25741868|PMID:28341476|PMID:28492532|PMID:34906470
8811340	Nrl	neural retina leucine zipper	gene	DOID:0090059	enhanced S-cone syndrome		ISO	RGD:1313083	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Enhanced S-cone syndrome	PMID:11694879|PMID:15591106|PMID:25741868|PMID:27732723|PMID:28492532|PMID:31456290
8811340	Nrl	neural retina leucine zipper	gene	DOID:0110397	retinitis pigmentosa 27		ISO	RGD:1313083	D	RGD:7240710	20180130	OMIM			
8811340	Nrl	neural retina leucine zipper	gene	DOID:0110397	retinitis pigmentosa 27		ISO	RGD:1313083	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NRL-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 27 | ClinVar Annotator: match by term: Retinitis pigmentosa 27 | ClinVar Annotator: match by term: retinitis pigmentosa 27	PMID:11385710|PMID:15591106|PMID:15994872|PMID:17335001|PMID:21981118|PMID:25741868|PMID:28106895|PMID:28492532
8811340	Nrl	neural retina leucine zipper	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313083	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15591106|PMID:17335001|PMID:23534816|PMID:25741868|PMID:27081294|PMID:27624628|PMID:28492532|PMID:29385733|PMID:34906470|PMID:35693422
8811340	Nrl	neural retina leucine zipper	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313083	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:15591106|PMID:17335001|PMID:23534816|PMID:25741868|PMID:27081294|PMID:28492532
8811340	Nrl	neural retina leucine zipper	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15591106|PMID:17335001|PMID:23534816|PMID:25741868|PMID:28492532|PMID:29385733|PMID:34906470|PMID:35693422
8811340	Nrl	neural retina leucine zipper	gene	DOID:630	genetic disease		ISO	RGD:1313083	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8811340	Nrl	neural retina leucine zipper	gene	DOID:8466	retinal degeneration		ISO	RGD:1313083	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15591106
8811340	Nrl	neural retina leucine zipper	gene	DOID:8499	night blindness		ISO	RGD:1313083	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12796249|PMID:15591106
8811340	Nrl	neural retina leucine zipper	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11879142|PMID:15591106|PMID:17335|PMID:17335001|PMID:25741868|PMID:28492532|PMID:29385733|PMID:33691693|PMID:34906470|PMID:36819107
8811340	Nrl	neural retina leucine zipper	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:1313083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Choroidal neovascularization	PMID:25741868|PMID:28492532|PMID:29385733
8811340	Nrl	neural retina leucine zipper	gene	DOID:9001386	Albinism		ISO	RGD:1313083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albinism	PMID:25741868|PMID:28492532|PMID:29385733
8811340	Nrl	neural retina leucine zipper	gene	DOID:9001923	Foveal Hypoplasia		ISO	RGD:1313083	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Foveal hypoplasia	PMID:25741868|PMID:28492532|PMID:29385733
8811340	Nrl	neural retina leucine zipper	gene	DOID:9002843	Waardenburg Syndrome Type 2		ISO	RGD:1313083	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Waardenburg syndrome type 2	PMID:25741868|PMID:28492532
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:0080073	spina bifida occulta		ISO	RGD:733293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spina bifida occulta	PMID:25741868
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:733294	D	RGD:9068941	20200609	RGD			PMID:11535810|REF_RGD_ID:13503334
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:733293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:1115	sarcoma		ISO	RGD:733293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:733293	D	RGD:9068941	20200609	RGD			PMID:24835407|REF_RGD_ID:13503333
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:733293	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas	PMID:17224646|REF_RGD_ID:2325739
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:219	colon cancer	treatment	ISO	RGD:620575	D	RGD:9068941	20200609	RGD			PMID:22369161|REF_RGD_ID:13703116
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:2316	brain ischemia		ISO	RGD:620575	D	RGD:9068941	20200609	RGD		protein:increased expression:striatum	PMID:17640469|REF_RGD_ID:2325742
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:733293	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17133271
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:3275	thymoma		ISO	RGD:733293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:3490	Noonan syndrome		ISO	RGD:733294	D	RGD:9068941	20220825	MouseDO			
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:620575	D	RGD:9068941	20200609	RGD			PMID:24012531|REF_RGD_ID:13703113
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:733293	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung	PMID:28982084|REF_RGD_ID:13703106
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:733293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:733293	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17133271
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733293	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:5327	retinal detachment		ISO	RGD:733293	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18497877
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:630	genetic disease		ISO	RGD:733293	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:767	muscular atrophy		ISO	RGD:620575	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:skeletal muscle tissue	PMID:17029665|REF_RGD_ID:2325745
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:620575	D	RGD:9068941	20200609	RGD			PMID:21748659|REF_RGD_ID:10053608
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:620575	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex	PMID:11567033|REF_RGD_ID:2325751
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:9001390	Testis Reperfusion Injury	treatment	ISO	RGD:620575	D	RGD:9068941	20200609	RGD			PMID:27748062|REF_RGD_ID:13703108
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:733293	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:9001725	Retina Reperfusion Injury	treatment	ISO	RGD:620575	D	RGD:9068941	20200609	RGD			PMID:22143029|REF_RGD_ID:5686888
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:9001946	Skin Abnormalities		ISO	RGD:733293	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9753320
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620575	D	RGD:9068941	20200609	RGD			PMID:18205898|REF_RGD_ID:2292105
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:620575	D	RGD:9068941	20200609	RGD			PMID:14973070|REF_RGD_ID:2325748
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:9005465	Renal Ischemia	treatment	ISO	RGD:620575	D	RGD:9068941	20200609	RGD			PMID:25330150|REF_RGD_ID:13703111
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:620575	D	RGD:9068941	20200609	RGD			PMID:26362957|REF_RGD_ID:13703110
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:9007090	Experimental Seizures		ISO	RGD:620575	D	RGD:9068941	20241107	RGD		protein:increased activity:hippocampus	PMID:11753565|REF_RGD_ID:2325750
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:733293	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9753320
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:733293	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9753320|PMID:9753321
8811398	Apaf1	apoptotic peptidase activating factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8811433	Znf853	zinc finger protein 853	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2302454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811433	Znf853	zinc finger protein 853	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2302454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8811433	Znf853	zinc finger protein 853	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2302454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8811458	Fdxacb1	ferredoxin-fold anticodon binding domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2301592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8811458	Fdxacb1	ferredoxin-fold anticodon binding domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2301592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8811458	Fdxacb1	ferredoxin-fold anticodon binding domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:2301592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8811458	Fdxacb1	ferredoxin-fold anticodon binding domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:2301592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8811458	Fdxacb1	ferredoxin-fold anticodon binding domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2301592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8811467	Ddx42	DEAD-box helicase 42	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8811467	Ddx42	DEAD-box helicase 42	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1312619	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:bone marrow mononuclear cell (human)	PMID:16211284|REF_RGD_ID:9850279
8811467	Ddx42	DEAD-box helicase 42	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8811467	Ddx42	DEAD-box helicase 42	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8811467	Ddx42	DEAD-box helicase 42	gene	DOID:1115	sarcoma		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8811467	Ddx42	DEAD-box helicase 42	gene	DOID:1324	lung cancer		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8811467	Ddx42	DEAD-box helicase 42	gene	DOID:1909	melanoma		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8811467	Ddx42	DEAD-box helicase 42	gene	DOID:4362	cervical cancer		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8811467	Ddx42	DEAD-box helicase 42	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8811467	Ddx42	DEAD-box helicase 42	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811467	Ddx42	DEAD-box helicase 42	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8811467	Ddx42	DEAD-box helicase 42	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8811467	Ddx42	DEAD-box helicase 42	gene	DOID:9007346	Cachexia		ISO	RGD:1304909	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA:increased expression:gastrocnemius muscle (rat)	PMID:14718385|REF_RGD_ID:1641826
8811467	Ddx42	DEAD-box helicase 42	gene	DOID:9007346	Cachexia		ISO	RGD:1312620	D	RGD:9068941	20200609	RGD		associated with Malnutrition;mRNA:increased expression:gastrocnemius muscle (mouse)	PMID:14718385|REF_RGD_ID:1641826
8811467	Ddx42	DEAD-box helicase 42	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8811495	Cfap91	cilia and flagella associated protein 91	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8811495	Cfap91	cilia and flagella associated protein 91	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346781	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8811495	Cfap91	cilia and flagella associated protein 91	gene	DOID:0112273	spermatogenic failure 51		ISO	RGD:1346781	D	RGD:7240710	20210303	OMIM			
8811495	Cfap91	cilia and flagella associated protein 91	gene	DOID:0112273	spermatogenic failure 51		ISO	RGD:1346781	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CFAP91-related condition | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 51 | ClinVar Annotator: match by term: Spermatogenic failure 51	PMID:25741868
8811495	Cfap91	cilia and flagella associated protein 91	gene	DOID:10534	stomach cancer		ISO	RGD:1346781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8811495	Cfap91	cilia and flagella associated protein 91	gene	DOID:1115	sarcoma		ISO	RGD:1346781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8811495	Cfap91	cilia and flagella associated protein 91	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8811495	Cfap91	cilia and flagella associated protein 91	gene	DOID:3275	thymoma		ISO	RGD:1346781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8811495	Cfap91	cilia and flagella associated protein 91	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8811495	Cfap91	cilia and flagella associated protein 91	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811495	Cfap91	cilia and flagella associated protein 91	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8811523	Cfap58	cilia and flagella associated protein 58	gene	DOID:0070311	oligoasthenoteratozoospermia		ISO	RGD:1621194	D	RGD:9068941	20220825	MouseDO			
8811523	Cfap58	cilia and flagella associated protein 58	gene	DOID:0112271	spermatogenic failure 49		ISO	RGD:1317458	D	RGD:7240710	20210113	OMIM			
8811523	Cfap58	cilia and flagella associated protein 58	gene	DOID:0112271	spermatogenic failure 49		ISO	RGD:1317458	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CFAP58-related disorder | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 49 | ClinVar Annotator: match by term: Spermatogenic failure 49	PMID:25741868
8811523	Cfap58	cilia and flagella associated protein 58	gene	DOID:1115	sarcoma		ISO	RGD:1317458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8811523	Cfap58	cilia and flagella associated protein 58	gene	DOID:1909	melanoma		ISO	RGD:1317458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8811523	Cfap58	cilia and flagella associated protein 58	gene	DOID:5041	esophageal cancer		ISO	RGD:1317458	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8811523	Cfap58	cilia and flagella associated protein 58	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811523	Cfap58	cilia and flagella associated protein 58	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8811549	Adamts5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:1115	sarcoma		ISO	RGD:1343923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8811549	Adamts5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:12800	mucopolysaccharidosis VI		ISO	RGD:735196	D	RGD:9068941	20200609	RGD		protein:increased expression:intervertebral disk	PMID:23192728|REF_RGD_ID:10043113
8811549	Adamts5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:1324	lung cancer		ISO	RGD:1343923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8811549	Adamts5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1343923	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
8811549	Adamts5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811549	Adamts5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1343923	D	RGD:9068941	20200609	RGD		protein:alternative form:synovium	PMID:11801682|REF_RGD_ID:10043106
8811549	Adamts5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:8398	osteoarthritis		ISO	RGD:1343923	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.R614H (human)	PMID:22961118|REF_RGD_ID:10043102
8811549	Adamts5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:8398	osteoarthritis		ISO	RGD:1343923	D	RGD:9068941	20200609	RGD		protein:alternative form:synovium	PMID:11801682|REF_RGD_ID:10043106
8811549	Adamts5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:8398	osteoarthritis		ISO	RGD:1552871	D	RGD:9068941	20200609	RGD			PMID:23982761|REF_RGD_ID:10043101
8811549	Adamts5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:8398	osteoarthritis		ISO	RGD:735196	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cartilage	PMID:17530714|REF_RGD_ID:2300093
8811549	Adamts5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:8398	osteoarthritis	disease_progression	ISO	RGD:1552871	D	RGD:9068941	20200609	RGD			PMID:23954517|REF_RGD_ID:10043107
8811549	Adamts5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:8398	osteoarthritis	no_association	ISO	RGD:1343923	D	RGD:9068941	20200609	RGD		DNA:missense mutations:exon: (rs226794, rs2830585) (human)	PMID:18240210|REF_RGD_ID:10043105
8811549	Adamts5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:8398	osteoarthritis	treatment	ISO	RGD:1552871	D	RGD:9068941	20200609	RGD			PMID:22084394|REF_RGD_ID:10003165
8811549	Adamts5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:8398	osteoarthritis	treatment	ISO	RGD:1552871	D	RGD:9068941	20200609	RGD		associated with Bone Diseases, Metabolic	PMID:22432033|REF_RGD_ID:10043110
8811549	Adamts5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:8398	osteoarthritis	treatment	ISO	RGD:735196	D	RGD:9068941	20200609	RGD			PMID:23546441|REF_RGD_ID:10043103
8811549	Adamts5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:90	degenerative disc disease		ISO	RGD:735196	D	RGD:9068941	20200609	RGD			PMID:22394620|REF_RGD_ID:10043115
8811549	Adamts5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:90	degenerative disc disease		ISO	RGD:735196	D	RGD:9068941	20200609	RGD		mRNA:increased expression:intervertebral disk of cervical vertebra	PMID:20948465|REF_RGD_ID:8661231
8811549	Adamts5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1343923	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
8811549	Adamts5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:735196	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cartilage	PMID:22670655|REF_RGD_ID:10043109
8811549	Adamts5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:9006281	Temporomandibular Joint Disorders		ISO	RGD:1343923	D	RGD:9068941	20200609	RGD			PMID:18830934|REF_RGD_ID:10043108
8811549	Adamts5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:9006281	Temporomandibular Joint Disorders	severity	ISO	RGD:1552871	D	RGD:9068941	20200609	RGD		mRNA:increased expression:temporomandibular joint	PMID:24316289|REF_RGD_ID:10043104
8811549	Adamts5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8811564	Crmp1	collapsin response mediator protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8811564	Crmp1	collapsin response mediator protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:731741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8811564	Crmp1	collapsin response mediator protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:731741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8811564	Crmp1	collapsin response mediator protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811564	Crmp1	collapsin response mediator protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:731741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:36511780
8811588	Nr2f1	nuclear receptor subfamily 2 group F member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8811588	Nr2f1	nuclear receptor subfamily 2 group F member 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:732429	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8811588	Nr2f1	nuclear receptor subfamily 2 group F member 1	gene	DOID:0112226	Bosch-Boonstra-Schaaf optic atrophy syndrome		ISO	RGD:732429	D	RGD:7240710	20180130	OMIM			
8811588	Nr2f1	nuclear receptor subfamily 2 group F member 1	gene	DOID:0112226	Bosch-Boonstra-Schaaf optic atrophy syndrome		ISO	RGD:732429	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME | ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome | ClinVar Annotator: match by term: NR2F1-related condition	PMID:24462372|PMID:25741868|PMID:25741869|PMID:26138355|PMID:26350515|PMID:26986877|PMID:28492532|PMID:34466801
8811588	Nr2f1	nuclear receptor subfamily 2 group F member 1	gene	DOID:1059	intellectual disability		ISO	RGD:732429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8811588	Nr2f1	nuclear receptor subfamily 2 group F member 1	gene	DOID:4428	dyslexia		ISO	RGD:732429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	PMID:28492532|PMID:34466801
8811588	Nr2f1	nuclear receptor subfamily 2 group F member 1	gene	DOID:5119	ovarian cyst		ISO	RGD:732429	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
8811588	Nr2f1	nuclear receptor subfamily 2 group F member 1	gene	DOID:540	strabismus		ISO	RGD:732429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:28492532|PMID:34466801
8811588	Nr2f1	nuclear receptor subfamily 2 group F member 1	gene	DOID:5723	optic atrophy		ISO	RGD:732429	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8811588	Nr2f1	nuclear receptor subfamily 2 group F member 1	gene	DOID:630	genetic disease		ISO	RGD:732429	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:36194208
8811588	Nr2f1	nuclear receptor subfamily 2 group F member 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:732429	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
8811588	Nr2f1	nuclear receptor subfamily 2 group F member 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:732429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:28492532|PMID:34466801
8811588	Nr2f1	nuclear receptor subfamily 2 group F member 1	gene	DOID:9005077	Joint Instability		ISO	RGD:732429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532|PMID:34466801
8811588	Nr2f1	nuclear receptor subfamily 2 group F member 1	gene	DOID:9005367	Arachnodactyly		ISO	RGD:732429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:28492532|PMID:34466801
8811588	Nr2f1	nuclear receptor subfamily 2 group F member 1	gene	DOID:9007573	Flatfoot		ISO	RGD:732429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:28492532|PMID:34466801
8811588	Nr2f1	nuclear receptor subfamily 2 group F member 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8811588	Nr2f1	nuclear receptor subfamily 2 group F member 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732429	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11850205
8811588	Nr2f1	nuclear receptor subfamily 2 group F member 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:732429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:28492532|PMID:34466801
8811588	Nr2f1	nuclear receptor subfamily 2 group F member 1	gene	DOID:9834	hyperopia		ISO	RGD:732429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532|PMID:34466801
8811601	Dapp1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:0080600	COVID-19		ISO	RGD:1320943	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8811601	Dapp1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:1909	melanoma		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8811601	Dapp1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8811601	Dapp1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8811601	Dapp1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320943	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8811601	Dapp1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8811601	Dapp1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:8398	osteoarthritis		ISO	RGD:1320943	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8811601	Dapp1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8811601	Dapp1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8811601	Dapp1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8811601	Dapp1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8811620	Myh11	myosin heavy chain 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
8811620	Myh11	myosin heavy chain 11	gene	DOID:0050453	lissencephaly		ISO	RGD:737424	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive	PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28166811|PMID:28492532|PMID:31664448
8811620	Myh11	myosin heavy chain 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:0060249	scoliosis		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:0060260	ptosis		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:0080600	COVID-19		ISO	RGD:737424	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8811620	Myh11	myosin heavy chain 11	gene	DOID:0081082	acute myelomonocytic leukemia		ISO	RGD:737424	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10958941
8811620	Myh11	myosin heavy chain 11	gene	DOID:0112235	lissencephaly 4		ISO	RGD:11612802|RGD:11613236|RGD:11614748|RGD:11615888|RGD:11617994|RGD:11618431|RGD:11618791|RGD:11620650|RGD:11620918|RGD:11621090|RGD:11622073|RGD:11622331|RGD:11623474|RGD:11624013|RGD:11625956|RGD:11648897|RGD:11650455|RGD:11650730|RGD:11651896|RGD:11653258|RGD:11654305|RGD:11654323|RGD:11658404|RGD:28876240|RGD:28877292|RGD:28877298|RGD:28877302|RGD:28877306|RGD:28881248|RGD:28881589|RGD:28881975|RGD:28881981|RGD:28886748|RGD:28886752|RGD:28886755|RGD:28886759|RGD:28887064|RGD:28887066|RGD:28892667|RGD:28892671|RGD:28892675	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly)	
8811620	Myh11	myosin heavy chain 11	gene	DOID:11830	myopia		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:12176	goiter		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:12849	autistic disorder		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:1324	lung cancer		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:13375	temporal arteritis		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Giant cell aortitis	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:737424	D	RGD:9068941	20200609	RGD			PMID:16444274|REF_RGD_ID:1580903
8811620	Myh11	myosin heavy chain 11	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:737424	D	RGD:9068941	20230202	RGD		DNA:mutation:cds:c.4599+1delG (human)	PMID:27418595|REF_RGD_ID:155883161
8811620	Myh11	myosin heavy chain 11	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737424	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10199307|PMID:10854329|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:18796164|PMID:20226094|PMID:20734336|PMID:21521776|PMID:21937134|PMID:22001912|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23099432|PMID:23142374|PMID:23696586|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26436109|PMID:26467025|PMID:26792327|PMID:27146836|PMID:27149842|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27879251|PMID:28074631|PMID:28074886|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28855619|PMID:29494672|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29907982|PMID:29961567|PMID:30122538|PMID:30675029|PMID:30739908|PMID:30885847|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32233023|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33824467|PMID:7923625|PMID:9536098
8811620	Myh11	myosin heavy chain 11	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737424	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10199307|PMID:10854329|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:18796164|PMID:20226094|PMID:20734336|PMID:21521776|PMID:21937134|PMID:22001912|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23099432|PMID:23142374|PMID:23696586|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26436109|PMID:26467025|PMID:26792327|PMID:27146836|PMID:27149842|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27879251|PMID:28074631|PMID:28074886|PMID:28166811|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28855619|PMID:29494672|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29907982|PMID:29961567|PMID:30122538|PMID:30675029|PMID:30739908|PMID:30885847|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32233023|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33726816|PMID:33824467|PMID:35830949|PMID:7923625|PMID:9536098
8811620	Myh11	myosin heavy chain 11	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737424	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10199307|PMID:10854329|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:18796164|PMID:20226094|PMID:20734336|PMID:21521776|PMID:21937134|PMID:22001912|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23099432|PMID:23142374|PMID:23696586|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26436109|PMID:26467025|PMID:26792327|PMID:27146836|PMID:27149842|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27879251|PMID:28074631|PMID:28074886|PMID:28166811|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28855619|PMID:29494672|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29907982|PMID:29961567|PMID:30122538|PMID:30675029|PMID:30739908|PMID:30885847|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32233023|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33726816|PMID:33824467|PMID:35276540|PMID:35372177|PMID:35830949|PMID:7923625|PMID:9536098
8811620	Myh11	myosin heavy chain 11	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737424	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10199307|PMID:10854329|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:18796164|PMID:20226094|PMID:20734336|PMID:21521776|PMID:21937134|PMID:22001912|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23099432|PMID:23142374|PMID:23696586|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26436109|PMID:26467025|PMID:26792327|PMID:27146836|PMID:27149842|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27879251|PMID:28074631|PMID:28074886|PMID:28166811|PMID:28469501|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28855619|PMID:29494672|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29907982|PMID:29961567|PMID:30122538|PMID:30675029|PMID:30684648|PMID:30739908|PMID:30885847|PMID:31473177|PMID:31664448|PMID:31731876|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32233023|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33726816|PMID:33824467|PMID:34422331|PMID:34498425|PMID:35276540|PMID:35372177|PMID:35393538|PMID:35830949|PMID:36973604|PMID:37298070|PMID:7923625|PMID:9536098
8811620	Myh11	myosin heavy chain 11	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737424	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:18796164|PMID:20226094|PMID:21521776|PMID:21937134|PMID:22001912|PMID:22511748|PMID:22955375|PMID:23099432|PMID:23142374|PMID:23696586|PMID:24033266|PMID:25110237|PMID:25407000|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26436109|PMID:26467025|PMID:27081537|PMID:27146836|PMID:27149842|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27879251|PMID:28074631|PMID:28074886|PMID:28166811|PMID:28469501|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28855619|PMID:29494672|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29907982|PMID:29961567|PMID:30122538|PMID:30675029|PMID:30684648|PMID:30739908|PMID:30885847|PMID:31024045|PMID:31473177|PMID:31664448|PMID:31731876|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32233023|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34422331|PMID:34498425|PMID:35276540|PMID:35372177|PMID:35393538|PMID:35830949|PMID:36763073|PMID:36973604|PMID:37298070|PMID:9536098
8811620	Myh11	myosin heavy chain 11	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737424	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:18796164|PMID:20226094|PMID:21521776|PMID:21937134|PMID:22001912|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23099432|PMID:23142374|PMID:23696586|PMID:24033266|PMID:25110237|PMID:25407000|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26436109|PMID:26467025|PMID:27081537|PMID:27146836|PMID:27149842|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27879251|PMID:28074631|PMID:28074886|PMID:28166811|PMID:28469501|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28855619|PMID:29386531|PMID:29494672|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29907982|PMID:29961567|PMID:30122538|PMID:30675029|PMID:30684648|PMID:30739908|PMID:30809044|PMID:30885847|PMID:31024045|PMID:31389005|PMID:31473177|PMID:31538843|PMID:31664448|PMID:31731876|PMID:31785789|PMID:31916526|PMID:31944481|PMID:31977013|PMID:32233023|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34422331|PMID:34498425|PMID:35276540|PMID:35372177|PMID:35393538|PMID:35830949|PMID:36763073|PMID:36973604|PMID:37298070|PMID:37625564|PMID:37937776|PMID:9536098
8811620	Myh11	myosin heavy chain 11	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737424	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11727201|PMID:12673792|PMID:12955720|PMID:15689448|PMID:16199547|PMID:16385454|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:18484607|PMID:18796164|PMID:19881469|PMID:20226094|PMID:20301515|PMID:20301601|PMID:20301788|PMID:21521776|PMID:21937134|PMID:21943391|PMID:22001912|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23099432|PMID:23142374|PMID:23696586|PMID:24033266|PMID:25110237|PMID:25407000|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26436109|PMID:26467025|PMID:27081537|PMID:27146836|PMID:27149842|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27879251|PMID:28074631|PMID:28074886|PMID:28087566|PMID:28166811|PMID:28469501|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28855619|PMID:29386531|PMID:29494672|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29907982|PMID:29961567|PMID:30122538|PMID:30675029|PMID:30684648|PMID:30739908|PMID:30809044|PMID:30885847|PMID:31024045|PMID:31389005|PMID:31473177|PMID:31538843|PMID:31664448|PMID:31731876|PMID:31785789|PMID:31916526|PMID:31944481|PMID:31977013|PMID:32233023|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34422331|PMID:34498425|PMID:35276540|PMID:35372177|PMID:35393538|PMID:35830949|PMID:36763073|PMID:36973604|PMID:37298070|PMID:37625564|PMID:37937776|PMID:38773466|PMID:9536098
8811620	Myh11	myosin heavy chain 11	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737424	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:18796164|PMID:20226094|PMID:21521776|PMID:21937134|PMID:22001912|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23099432|PMID:23142374|PMID:23696586|PMID:24033266|PMID:25110237|PMID:25407000|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26436109|PMID:26467025|PMID:27081537|PMID:27146836|PMID:27149842|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27879251|PMID:28074631|PMID:28074886|PMID:28087566|PMID:28469501|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28855619|PMID:29386531|PMID:29494672|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29781137|PMID:29907982|PMID:29961567|PMID:30122538|PMID:30526509|PMID:30675029|PMID:30684648|PMID:30739908|PMID:30809044|PMID:30885847|PMID:31024045|PMID:31389005|PMID:31473177|PMID:31538843|PMID:31664448|PMID:31731876|PMID:31785789|PMID:31916526|PMID:31944481|PMID:31977013|PMID:32233023|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34422331|PMID:34498425|PMID:35276540|PMID:35372177|PMID:35393538|PMID:35830949|PMID:36517271|PMID:36763073|PMID:36788754|PMID:36973604|PMID:37298070|PMID:37625564|PMID:37937776|PMID:38773466|PMID:9536098
8811620	Myh11	myosin heavy chain 11	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737424	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16199547|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18796164|PMID:20226094|PMID:21521776|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23142374|PMID:23696586|PMID:24033266|PMID:25110237|PMID:25407000|PMID:25433566|PMID:25637381|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26188975|PMID:26332594|PMID:27081537|PMID:27149842|PMID:27153395|PMID:27879251|PMID:28074886|PMID:28087566|PMID:28492532|PMID:28659821|PMID:28855619|PMID:29386531|PMID:29494672|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29781137|PMID:29907982|PMID:29961567|PMID:30122538|PMID:30526509|PMID:30675029|PMID:30684648|PMID:30739908|PMID:30809044|PMID:30885847|PMID:31024045|PMID:31389005|PMID:31427716|PMID:31944481|PMID:32233023|PMID:33083483|PMID:33190788|PMID:33726816|PMID:33824467|PMID:34422331|PMID:34498425|PMID:35372177|PMID:36103205|PMID:36788754|PMID:37288276|PMID:37298070|PMID:38773466|PMID:9536098
8811620	Myh11	myosin heavy chain 11	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16199547|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18796164|PMID:20226094|PMID:21521776|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23142374|PMID:23696586|PMID:24033266|PMID:25110237|PMID:25407000|PMID:25433566|PMID:25637381|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26332594|PMID:27081537|PMID:27153395|PMID:27879251|PMID:28074886|PMID:28087566|PMID:28492532|PMID:28659821|PMID:29494672|PMID:29575632|PMID:29907982|PMID:29961567|PMID:30675029|PMID:30739908|PMID:30809044|PMID:31389005|PMID:31944481|PMID:32233023|PMID:33824467|PMID:34422331|PMID:36103205|PMID:36517271|PMID:38773466|PMID:38895864|PMID:9536098
8811620	Myh11	myosin heavy chain 11	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737424	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16199547|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18796164|PMID:20226094|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23142374|PMID:23696586|PMID:24033266|PMID:25407000|PMID:25433566|PMID:25637381|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26332594|PMID:27081537|PMID:27153395|PMID:27879251|PMID:28074886|PMID:28087566|PMID:28492532|PMID:28659821|PMID:29494672|PMID:29575632|PMID:29907982|PMID:29961567|PMID:30675029|PMID:30739908|PMID:30809044|PMID:31389005|PMID:31944481|PMID:32233023|PMID:33824467|PMID:34422331|PMID:36103205|PMID:36517271|PMID:38773466|PMID:38895864|PMID:9536098
8811620	Myh11	myosin heavy chain 11	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737424	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16199547|PMID:17576681|PMID:17666408|PMID:18796164|PMID:20226094|PMID:22968129|PMID:24033266|PMID:25407000|PMID:25741868|PMID:25944730|PMID:26017485|PMID:27081537|PMID:28074886|PMID:28087566|PMID:28492532|PMID:28659821|PMID:29575632|PMID:29907982|PMID:30684648|PMID:30739908|PMID:30809044|PMID:30885847|PMID:31389005|PMID:31944481|PMID:32233023|PMID:33083483|PMID:33824467|PMID:34422331|PMID:36103205|PMID:36517271|PMID:38773466|PMID:38895864|PMID:9536098
8811620	Myh11	myosin heavy chain 11	gene	DOID:14323	Marfan syndrome		ISO	RGD:737424	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Marfan syndrome	PMID:17666408|PMID:22968129|PMID:25741868|PMID:25944730|PMID:28492532|PMID:31389005|PMID:31944481
8811620	Myh11	myosin heavy chain 11	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:737424	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:1596	depressive disorder		ISO	RGD:737424	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:1882	atrial heart septal defect		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: auricular septal defect	PMID:25741868
8811620	Myh11	myosin heavy chain 11	gene	DOID:2030	anxiety disorder		ISO	RGD:737424	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8811620	Myh11	myosin heavy chain 11	gene	DOID:3087	gingivitis		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:3144	cutis laxa		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:3275	thymoma		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8811620	Myh11	myosin heavy chain 11	gene	DOID:3459	breast carcinoma		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:3627	aortic aneurysm		ISO	RGD:737424	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:5041	esophageal cancer		ISO	RGD:737424	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:520	aortic disease		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial aortopathy	PMID:24033266|PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8811620	Myh11	myosin heavy chain 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737424	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26017485|PMID:28492532|PMID:31389005|PMID:31944481|PMID:38773466
8811620	Myh11	myosin heavy chain 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:630	genetic disease		ISO	RGD:737424	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:8316857
8811620	Myh11	myosin heavy chain 11	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868|PMID:28492532|PMID:34498425|PMID:37306888
8811620	Myh11	myosin heavy chain 11	gene	DOID:65	connective tissue disease		ISO	RGD:737424	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532|PMID:30684648|PMID:31389005|PMID:31944481
8811620	Myh11	myosin heavy chain 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8811620	Myh11	myosin heavy chain 11	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:737424	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:30004237|REF_RGD_ID:13782270
8811620	Myh11	myosin heavy chain 11	gene	DOID:7998	hyperthyroidism		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:824	periodontitis		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:865	vasculitis		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasculitis	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:737424	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:9000664	Familial Thoracic Aortic Aneurysm 4		ISO	RGD:737424	D	RGD:7240710	20180130	OMIM			
8811620	Myh11	myosin heavy chain 11	gene	DOID:9000664	Familial Thoracic Aortic Aneurysm 4		ISO	RGD:737424	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 4 | ClinVar Annotator: match by term: AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm 4	PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:18796164|PMID:20226094|PMID:22968129|PMID:24033266|PMID:25407000|PMID:25640679|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26188975|PMID:27081537|PMID:28074631|PMID:28074886|PMID:28087566|PMID:28492532|PMID:28659821|PMID:29386531|PMID:29575632|PMID:29781137|PMID:29907982|PMID:30056620|PMID:30122538|PMID:30526509|PMID:30684648|PMID:30739908|PMID:30809044|PMID:30885847|PMID:31389005|PMID:31944481|PMID:32081817|PMID:32233023|PMID:33083483|PMID:34498425|PMID:36103205|PMID:36517271|PMID:36788754|PMID:37298070|PMID:38773466|PMID:38895864|PMID:9536098
8811620	Myh11	myosin heavy chain 11	gene	DOID:9000807	Megaduodenum		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megacystis	PMID:31044419
8811620	Myh11	myosin heavy chain 11	gene	DOID:9001104	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2		ISO	RGD:737424	D	RGD:7240710	20210616	OMIM			
8811620	Myh11	myosin heavy chain 11	gene	DOID:9001104	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2		ISO	RGD:737424	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 | ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	PMID:16199547|PMID:17576681|PMID:17666408|PMID:25407000|PMID:25741868|PMID:26017485|PMID:28492532|PMID:29575632|PMID:29907982|PMID:30684648|PMID:30739908|PMID:30809044|PMID:30885847|PMID:31389005|PMID:31427716|PMID:31944481|PMID:33083483|PMID:34498425|PMID:36517271|PMID:36788754|PMID:38773466|PMID:38895864|PMID:9536098
8811620	Myh11	myosin heavy chain 11	gene	DOID:9001224	Striae Distensae		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:9001665	Aneurysm		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aneurysm	
8811620	Myh11	myosin heavy chain 11	gene	DOID:9001733	Tinnitus		ISO	RGD:737424	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:9003653	Microcephalic Osteodysplastic Primordial Dwarfism, Type III		ISO	RGD:10055655	D	RGD:9068941	20250703	ClinVar		ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:9004097	Marfanoid Hypermobility Syndrome		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Marfan syndrome type 1	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:9005077	Joint Instability		ISO	RGD:737424	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8811620	Myh11	myosin heavy chain 11	gene	DOID:9007554	Mydriasis		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mydriasis	PMID:31044419
8811620	Myh11	myosin heavy chain 11	gene	DOID:9008615	Familial Thoracic Aortic Aneurysm 1		ISO	RGD:737424	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial thoracic aortic aneurysm	PMID:25637381|PMID:25741868|PMID:28492532|PMID:33726816
8811620	Myh11	myosin heavy chain 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:16199547|PMID:25407000|PMID:25741868|PMID:28492532|PMID:29575632
8811620	Myh11	myosin heavy chain 11	gene	DOID:9009175	Visceral Myopathy 2		ISO	RGD:737424	D	RGD:7240710	20210616	OMIM			
8811620	Myh11	myosin heavy chain 11	gene	DOID:9009175	Visceral Myopathy 2		ISO	RGD:737424	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 | ClinVar Annotator: match by term: Visceral myopathy 2	PMID:16199547|PMID:17576681|PMID:17666408|PMID:25407000|PMID:25741868|PMID:26017485|PMID:28492532|PMID:29575632|PMID:29907982|PMID:30684648|PMID:30739908|PMID:30809044|PMID:30885847|PMID:31389005|PMID:31944481|PMID:33083483|PMID:34498425|PMID:36517271|PMID:36788754|PMID:38773466|PMID:38895864|PMID:9536098
8811620	Myh11	myosin heavy chain 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737424	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18206229|PMID:27798625
8811620	Myh11	myosin heavy chain 11	gene	DOID:9834	hyperopia		ISO	RGD:737424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:0080600	COVID-19		ISO	RGD:735393	D	RGD:9068941	20260514	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:10286	prostate carcinoma		ISO	RGD:735393	D	RGD:9068941	20260514	RGD			PMID:8618340|REF_RGD_ID:2299063
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735393	D	RGD:9068941	20260514	RGD		mRNA:increased expression:urinary bladder	PMID:7614395|REF_RGD_ID:2299071
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:735393	D	RGD:9068941	20260514	CTD		CTD Direct Evidence: marker/mechanism	PMID:9527842
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:735393	D	RGD:9068941	20260514	RGD			PMID:8605098|REF_RGD_ID:2299064
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:1749	squamous cell carcinoma	severity	ISO	RGD:735393	D	RGD:9068941	20260514	RGD		protein:decreased expression:tumor (human)	PMID:8978595|REF_RGD_ID:5133245
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:2152	ovary epithelial cancer		ISO	RGD:735393	D	RGD:9068941	20260514	RGD		DNA:deletion	PMID:7622307|REF_RGD_ID:2299069
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:2394	ovarian cancer		ISO	RGD:735393	D	RGD:9068941	20260514	RGD		protein:increased expression:endometrium	PMID:8519661|REF_RGD_ID:2299066
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:735393	D	RGD:9068941	20260514	RGD			PMID:8636741|REF_RGD_ID:2299065
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:3307	teratoma		ISO	RGD:735393	D	RGD:9068941	20260514	RGD		DNA:deletion	PMID:7518576|REF_RGD_ID:2299072
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:3459	breast carcinoma		ISO	RGD:735393	D	RGD:9068941	20260514	RGD			PMID:9036878|REF_RGD_ID:2299061
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:735393	D	RGD:9068941	20260514	RGD		protein:increased expression:pancreas (human)	PMID:17492507|REF_RGD_ID:5132867
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:735393	D	RGD:9068941	20260514	RGD			PMID:9663430|REF_RGD_ID:2299059
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20260514	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735393	D	RGD:9068941	20260514	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:769	neuroblastoma		ISO	RGD:735393	D	RGD:9068941	20260514	RGD			PMID:8047138|REF_RGD_ID:1600229
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:735393	D	RGD:9068941	20260514	RGD		associated with Breast Neoplasms	PMID:8102131|PMID:9036878|REF_RGD_ID:2299061|REF_RGD_ID:2299077
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:735393	D	RGD:9068941	20260514	RGD		associated with Cervix Neoplasms; associated with Endometrial  Neoplasms	PMID:8855975|REF_RGD_ID:2299062
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:735393	D	RGD:9068941	20260514	CTD		CTD Direct Evidence: marker/mechanism	PMID:15928304
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:735393	D	RGD:9068941	20260514	RGD		associated with Ovarian Neoplasms	PMID:7622307|REF_RGD_ID:2299069
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:9002669	Hypoxia		ISO	RGD:735393	D	RGD:9068941	20260514	CTD		CTD Direct Evidence: marker/mechanism	PMID:19579223
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:9003936	Cardiomegaly		ISO	RGD:70497	D	RGD:9068941	20260514	RGD		protein:increased expression:heart, plasma membrane (rat)	PMID:14559858|REF_RGD_ID:5132887
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:735393	D	RGD:9068941	20260514	CTD		CTD Direct Evidence: marker/mechanism	PMID:15048980
8811702	LOC102025966	nucleoside diphosphate kinase A	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:735393	D	RGD:9068941	20260514	CTD		CTD Direct Evidence: marker/mechanism	PMID:15814641
8811717	Kdm2a	lysine demethylase 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8811717	Kdm2a	lysine demethylase 2A	gene	DOID:10534	stomach cancer		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8811717	Kdm2a	lysine demethylase 2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8811717	Kdm2a	lysine demethylase 2A	gene	DOID:1115	sarcoma		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8811717	Kdm2a	lysine demethylase 2A	gene	DOID:1324	lung cancer		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8811717	Kdm2a	lysine demethylase 2A	gene	DOID:1909	melanoma		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8811717	Kdm2a	lysine demethylase 2A	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1319753	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:24482232|REF_RGD_ID:9588265
8811717	Kdm2a	lysine demethylase 2A	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1319753	D	RGD:9068941	20200609	RGD		mRNA:increased expression:stomach (human)	PMID:24200691|REF_RGD_ID:9588263
8811717	Kdm2a	lysine demethylase 2A	gene	DOID:4362	cervical cancer		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8811717	Kdm2a	lysine demethylase 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811717	Kdm2a	lysine demethylase 2A	gene	DOID:6000	congestive heart failure		ISO	RGD:1616561	D	RGD:9068941	20200609	RGD		protein:altered localization:promoter (mouse)	PMID:25181347|REF_RGD_ID:9588275
8811717	Kdm2a	lysine demethylase 2A	gene	DOID:6039	uveal melanoma		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8811717	Kdm2a	lysine demethylase 2A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8811717	Kdm2a	lysine demethylase 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8811717	Kdm2a	lysine demethylase 2A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319753	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: KDM2A-related neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:38060137
8811717	Kdm2a	lysine demethylase 2A	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319753	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
8811717	Kdm2a	lysine demethylase 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8811717	Kdm2a	lysine demethylase 2A	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1319753	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
8811717	Kdm2a	lysine demethylase 2A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8811717	Kdm2a	lysine demethylase 2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8811747	Aoc1	amine oxidase copper containing 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:732341	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8811747	Aoc1	amine oxidase copper containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:732341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8811747	Aoc1	amine oxidase copper containing 1	gene	DOID:10763	hypertension		ISO	RGD:732341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:6218830
8811747	Aoc1	amine oxidase copper containing 1	gene	DOID:1324	lung cancer		ISO	RGD:732341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8811747	Aoc1	amine oxidase copper containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811747	Aoc1	amine oxidase copper containing 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732342	D	RGD:9068941	20200609	RGD			PMID:16895983|REF_RGD_ID:2315591
8811747	Aoc1	amine oxidase copper containing 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:732341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:6218830
8811747	Aoc1	amine oxidase copper containing 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:61296	D	RGD:9068941	20200609	RGD			PMID:1632778|REF_RGD_ID:2312809
8811747	Aoc1	amine oxidase copper containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8811802	Asic2	acid sensing ion channel subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8811802	Asic2	acid sensing ion channel subunit 2	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:737359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	
8811802	Asic2	acid sensing ion channel subunit 2	gene	DOID:10283	prostate cancer		ISO	RGD:737359	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8811802	Asic2	acid sensing ion channel subunit 2	gene	DOID:10283	prostate cancer		ISO	RGD:737359	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8811802	Asic2	acid sensing ion channel subunit 2	gene	DOID:12849	autistic disorder		ISO	RGD:737359	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17376794
8811802	Asic2	acid sensing ion channel subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:737359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8811802	Asic2	acid sensing ion channel subunit 2	gene	DOID:1909	melanoma		ISO	RGD:737359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8811802	Asic2	acid sensing ion channel subunit 2	gene	DOID:3070	high grade glioma		ISO	RGD:737359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8811802	Asic2	acid sensing ion channel subunit 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:737359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8811802	Asic2	acid sensing ion channel subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811802	Asic2	acid sensing ion channel subunit 2	gene	DOID:9005372	Inflammation		ISO	RGD:737359	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11588175
8811821	Morn4	MORN repeat containing 4	gene	DOID:1115	sarcoma		ISO	RGD:1316472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8811821	Morn4	MORN repeat containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8811821	Morn4	MORN repeat containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8811892	Myog	myogenin	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:620432	D	RGD:9068941	20200609	RGD			PMID:23781298|REF_RGD_ID:9686078
8811892	Myog	myogenin	gene	DOID:9008286	Experimental Autoimmune Myasthenia Gravis		ISO	RGD:620432	D	RGD:9068941	20200609	RGD			PMID:1312030|REF_RGD_ID:9686077
8811892	Myog	myogenin	gene	DOID:9008444	Skeletal Muscle Injuries		ISO	RGD:620432	D	RGD:9068941	20200609	RGD		mRNA:increased expression:diaphragm	PMID:15738284|REF_RGD_ID:9686134
8811892	Myog	myogenin	gene	DOID:9970	obesity		ISO	RGD:620432	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:plantaris	PMID:18508911|REF_RGD_ID:2313320
8811905	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8811905	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8811905	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8811905	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8811905	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8811905	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8811905	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8811905	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811905	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8811905	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8811905	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8811905	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8811923	Ubxn4	UBX domain protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8811923	Ubxn4	UBX domain protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8811923	Ubxn4	UBX domain protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8811923	Ubxn4	UBX domain protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8811923	Ubxn4	UBX domain protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8811923	Ubxn4	UBX domain protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8811923	Ubxn4	UBX domain protein 4	gene	DOID:1909	melanoma		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8811923	Ubxn4	UBX domain protein 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8811923	Ubxn4	UBX domain protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8811923	Ubxn4	UBX domain protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1316650	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8811923	Ubxn4	UBX domain protein 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8811923	Ubxn4	UBX domain protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8811923	Ubxn4	UBX domain protein 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316650	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8811923	Ubxn4	UBX domain protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8811959	Edar	ectodysplasin A receptor	gene	DOID:0111663	ectodermal dysplasia 10A		ISO	RGD:1344202	D	RGD:7240710	20180130	OMIM			
8811959	Edar	ectodysplasin A receptor	gene	DOID:0111665	ectodermal dysplasia 10B		ISO	RGD:1344202	D	RGD:7240710	20180130	OMIM			
8811959	Edar	ectodysplasin A receptor	gene	DOID:0111665	ectodermal dysplasia 10B		ISO	RGD:1344202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	PMID:28492532|PMID:32325225
8811959	Edar	ectodysplasin A receptor	gene	DOID:10754	otitis media	treatment	ISO	RGD:1557662	D	RGD:9068941	20200609	RGD			PMID:31028034|REF_RGD_ID:14398763
8811959	Edar	ectodysplasin A receptor	gene	DOID:13714	anodontia		ISO	RGD:1344202	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypodontia | ClinVar Annotator: match by term: Non-syndromic oligodontia	PMID:10431241|PMID:17125505|PMID:18065779|PMID:18561327|PMID:18704500|PMID:24884697|PMID:25741868|PMID:26336973|PMID:27305980|PMID:28492532
8811959	Edar	ectodysplasin A receptor	gene	DOID:14793	hypohidrotic ectodermal dysplasia		ISO	RGD:1557662	D	RGD:9068941	20250724	MouseDO		OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100	
8811959	Edar	ectodysplasin A receptor	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1344202	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant	PMID:16435307|PMID:18065779|PMID:18561327|PMID:18704500|PMID:18816645|PMID:23210707|PMID:24033266|PMID:25741868|PMID:28492532
8811974	Ggt6	gamma-glutamyltransferase 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603275	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8811974	Ggt6	gamma-glutamyltransferase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8811986	Tubd1	tubulin delta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8811986	Tubd1	tubulin delta 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8811986	Tubd1	tubulin delta 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8811986	Tubd1	tubulin delta 1	gene	DOID:1115	sarcoma		ISO	RGD:1323696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8811986	Tubd1	tubulin delta 1	gene	DOID:1148	polydactyly		ISO	RGD:1323696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868
8811986	Tubd1	tubulin delta 1	gene	DOID:1909	melanoma		ISO	RGD:1323696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8811986	Tubd1	tubulin delta 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8811986	Tubd1	tubulin delta 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8811986	Tubd1	tubulin delta 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8811986	Tubd1	tubulin delta 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8811986	Tubd1	tubulin delta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812013	Fbxo34	F-box protein 34	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8812013	Fbxo34	F-box protein 34	gene	DOID:1115	sarcoma		ISO	RGD:1320823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8812013	Fbxo34	F-box protein 34	gene	DOID:4362	cervical cancer		ISO	RGD:1320823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8812030	Opn5	opsin 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8812030	Opn5	opsin 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8812030	Opn5	opsin 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8812040	Lrrn3	leucine rich repeat neuronal 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:734364	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20678249
8812046	Capn1	calpain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8812046	Capn1	calpain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8812046	Capn1	calpain 1	gene	DOID:0081292	traumatic brain injury		ISO	RGD:2267	D	RGD:9068941	20200609	RGD		protein:increased expression:cytosol, plasma membrane	PMID:9469158|REF_RGD_ID:13792664
8812046	Capn1	calpain 1	gene	DOID:0081292	traumatic brain injury	severity	ISO	RGD:2267	D	RGD:9068941	20241031	RGD			PMID:15307896|REF_RGD_ID:5509821
8812046	Capn1	calpain 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	PMID:25741868|PMID:32352326
8812046	Capn1	calpain 1	gene	DOID:0110821	hereditary spastic paraplegia 76		ISO	RGD:736980	D	RGD:7240710	20190315	OMIM			
8812046	Capn1	calpain 1	gene	DOID:0110821	hereditary spastic paraplegia 76		ISO	RGD:736980	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 76 | ClinVar Annotator: match by term: CAPN1-related condition | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE	PMID:16199547|PMID:17576681|PMID:25741868|PMID:27153400|PMID:27320912|PMID:28492532|PMID:28566166|PMID:29379883|PMID:30198554|PMID:31227335|PMID:31345219|PMID:32214227|PMID:32352326|PMID:33486633|PMID:34234304|PMID:36530930|PMID:37273706|PMID:9536098
8812046	Capn1	calpain 1	gene	DOID:10230	aortic atherosclerosis		ISO	RGD:2267	D	RGD:9068941	20200609	RGD		protein:increased activity:aorta	PMID:23006733|REF_RGD_ID:13792498
8812046	Capn1	calpain 1	gene	DOID:10534	stomach cancer		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:16199547|PMID:27153400|PMID:27320912|PMID:28492532|PMID:31345219
8812046	Capn1	calpain 1	gene	DOID:1059	intellectual disability		ISO	RGD:736980	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	
8812046	Capn1	calpain 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736980	D	RGD:9068941	20200609	RGD		protein:increased activity:brain:	PMID:11231011|REF_RGD_ID:13792663
8812046	Capn1	calpain 1	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:736980	D	RGD:9068941	20200609	RGD			PMID:8622780|REF_RGD_ID:13792495
8812046	Capn1	calpain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8812046	Capn1	calpain 1	gene	DOID:1115	sarcoma		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8812046	Capn1	calpain 1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:2267	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle tissue of tibialis anterior	PMID:24745757|REF_RGD_ID:13792589
8812046	Capn1	calpain 1	gene	DOID:1210	optic neuritis		ISO	RGD:736980	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23860028
8812046	Capn1	calpain 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:17576681|PMID:25741868|PMID:27153400|PMID:28492532|PMID:32214227|PMID:33486633|PMID:34234304|PMID:36530930|PMID:37273706|PMID:9536098
8812046	Capn1	calpain 1	gene	DOID:1324	lung cancer		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8812046	Capn1	calpain 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:736980	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19266085
8812046	Capn1	calpain 1	gene	DOID:1826	epilepsy	treatment	ISO	RGD:2267	D	RGD:9068941	20200609	RGD			PMID:25924429|REF_RGD_ID:13792591
8812046	Capn1	calpain 1	gene	DOID:1909	melanoma		ISO	RGD:736980	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
8812046	Capn1	calpain 1	gene	DOID:2247	spondylosis		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical spondylosis	PMID:17576681|PMID:25741868|PMID:27153400|PMID:28492532|PMID:32214227|PMID:33486633|PMID:34234304|PMID:36530930|PMID:37273706|PMID:9536098
8812046	Capn1	calpain 1	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:2267	D	RGD:9068941	20200609	RGD		associated with Rhabdomyolysis;	PMID:24158126|REF_RGD_ID:13792553
8812046	Capn1	calpain 1	gene	DOID:4362	cervical cancer		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8812046	Capn1	calpain 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8812046	Capn1	calpain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812046	Capn1	calpain 1	gene	DOID:607	paraplegia		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:25741868
8812046	Capn1	calpain 1	gene	DOID:630	genetic disease		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8812046	Capn1	calpain 1	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2267	D	RGD:9068941	20200609	RGD			PMID:23102374|REF_RGD_ID:13792496
8812046	Capn1	calpain 1	gene	DOID:9000053	Headache		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:17576681|PMID:25741868|PMID:27153400|PMID:28492532|PMID:32214227|PMID:33486633|PMID:34234304|PMID:36530930|PMID:37273706|PMID:9536098
8812046	Capn1	calpain 1	gene	DOID:9001722	Dysarthria		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:17576681|PMID:25741868|PMID:27153400|PMID:28492532|PMID:32214227|PMID:33486633|PMID:34234304|PMID:36530930|PMID:37273706|PMID:9536098
8812046	Capn1	calpain 1	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:12061939	D	RGD:9068941	20250116	OMIA		Ataxia, spinocerebellar, CAPN1-related	PMID:15320590|PMID:2061870|PMID:22634896|PMID:22872628|PMID:23741357|PMID:24736825|PMID:24736826|PMID:27153400|PMID:27259058|PMID:27320912|PMID:30650096|PMID:37341581|PMID:37905444|PMID:38003185|PMID:4747697
8812046	Capn1	calpain 1	gene	DOID:9003242	Paresthesia		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paresthesia	PMID:17576681|PMID:25741868|PMID:27153400|PMID:28492532|PMID:32214227|PMID:33486633|PMID:34234304|PMID:36530930|PMID:37273706|PMID:9536098
8812046	Capn1	calpain 1	gene	DOID:9003507	Premature Birth		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:17576681|PMID:25741868|PMID:27153400|PMID:28492532|PMID:32214227|PMID:33486633|PMID:34234304|PMID:36530930|PMID:37273706|PMID:9536098
8812046	Capn1	calpain 1	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:17576681|PMID:25741868|PMID:27153400|PMID:28492532|PMID:32214227|PMID:33486633|PMID:34234304|PMID:36530930|PMID:37273706|PMID:9536098
8812046	Capn1	calpain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8812046	Capn1	calpain 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:17576681|PMID:25741868|PMID:27153400|PMID:28492532|PMID:32214227|PMID:33486633|PMID:34234304|PMID:36530930|PMID:37273706|PMID:9536098
8812046	Capn1	calpain 1	gene	DOID:9008941	Muscle Hypertonia		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hypermyotonia	PMID:25741868|PMID:28492532|PMID:31982778
8812046	Capn1	calpain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8812046	Capn1	calpain 1	gene	DOID:913	atrophic muscular disease		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal lower limb amyotrophy	PMID:17576681|PMID:25741868|PMID:27153400|PMID:28492532|PMID:32214227|PMID:33486633|PMID:34234304|PMID:36530930|PMID:37273706|PMID:9536098
8812046	Capn1	calpain 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus | ClinVar Annotator: match by term: Nystagmus	PMID:17576681|PMID:25741868|PMID:27153400|PMID:28492532|PMID:32214227|PMID:33486633|PMID:34234304|PMID:36530930|PMID:37273706|PMID:9536098
8812077	Chst10	carbohydrate sulfotransferase 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8812077	Chst10	carbohydrate sulfotransferase 10	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1353236	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8812077	Chst10	carbohydrate sulfotransferase 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8812077	Chst10	carbohydrate sulfotransferase 10	gene	DOID:1115	sarcoma		ISO	RGD:1353236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8812077	Chst10	carbohydrate sulfotransferase 10	gene	DOID:4362	cervical cancer		ISO	RGD:1353236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8812077	Chst10	carbohydrate sulfotransferase 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1353236	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8812077	Chst10	carbohydrate sulfotransferase 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812077	Chst10	carbohydrate sulfotransferase 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8812077	Chst10	carbohydrate sulfotransferase 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8812114	Wnt9a	Wnt family member 9A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8812114	Wnt9a	Wnt family member 9A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8812114	Wnt9a	Wnt family member 9A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8812114	Wnt9a	Wnt family member 9A	gene	DOID:1612	breast cancer		ISO	RGD:1312797	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor, cell line:up-regulated in 1/9 primary breast tumors and 2/3 breast cancer cell lines (T-47D, MCF-7)	PMID:11713592|REF_RGD_ID:2299944
8812114	Wnt9a	Wnt family member 9A	gene	DOID:1793	pancreatic cancer		ISO	RGD:1312797	D	RGD:9068941	20200609	RGD		DNA:mutations:exon	PMID:18772397|REF_RGD_ID:5490966
8812114	Wnt9a	Wnt family member 9A	gene	DOID:3275	thymoma		ISO	RGD:1312797	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8812114	Wnt9a	Wnt family member 9A	gene	DOID:4362	cervical cancer		ISO	RGD:1312797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8812114	Wnt9a	Wnt family member 9A	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1312797	D	RGD:9068941	20220714	RGD		mRNA:altered expression:liver (human)	PMID:31687280|REF_RGD_ID:152998978
8812114	Wnt9a	Wnt family member 9A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812114	Wnt9a	Wnt family member 9A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8812140	Plcb3	phospholipase C beta 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8812140	Plcb3	phospholipase C beta 3	gene	DOID:0112303	spondylometaphyseal dysplasia with corneal dystrophy		ISO	RGD:731269	D	RGD:7240710	20200812	OMIM			
8812140	Plcb3	phospholipase C beta 3	gene	DOID:0112303	spondylometaphyseal dysplasia with corneal dystrophy		ISO	RGD:731269	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PLCB3-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia with corneal dystrophy	PMID:25741868|PMID:28492532
8812140	Plcb3	phospholipase C beta 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8812140	Plcb3	phospholipase C beta 3	gene	DOID:1115	sarcoma		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8812140	Plcb3	phospholipase C beta 3	gene	DOID:12858	Huntington's disease		ISO	RGD:62285	D	RGD:9068941	20200609	RGD			PMID:22917585|REF_RGD_ID:13432582
8812140	Plcb3	phospholipase C beta 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8812140	Plcb3	phospholipase C beta 3	gene	DOID:3070	high grade glioma		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8812140	Plcb3	phospholipase C beta 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8812140	Plcb3	phospholipase C beta 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8812140	Plcb3	phospholipase C beta 3	gene	DOID:4362	cervical cancer		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8812140	Plcb3	phospholipase C beta 3	gene	DOID:5041	esophageal cancer		ISO	RGD:731269	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8812140	Plcb3	phospholipase C beta 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8812140	Plcb3	phospholipase C beta 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812140	Plcb3	phospholipase C beta 3	gene	DOID:5844	myocardial infarction		ISO	RGD:61993	D	RGD:9068941	20200609	RGD		protein:increased expression:heart	PMID:9521338|REF_RGD_ID:2314514
8812140	Plcb3	phospholipase C beta 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8812140	Plcb3	phospholipase C beta 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8812140	Plcb3	phospholipase C beta 3	gene	DOID:8549	chronic ulcer of skin		ISO	RGD:62285	D	RGD:9068941	20200609	RGD			PMID:10669417|REF_RGD_ID:737745
8812140	Plcb3	phospholipase C beta 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:61993	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart left ventricle	PMID:15362504|REF_RGD_ID:2314509
8812140	Plcb3	phospholipase C beta 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:0050562	West syndrome	treatment	ISO	RGD:620948	D	RGD:9068941	20200609	RGD			PMID:24321005|REF_RGD_ID:9588540
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:0060174	GABA aminotransferase deficiency		ISO	RGD:732065	D	RGD:7240710	20180130	OMIM			
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:0060174	GABA aminotransferase deficiency		ISO	RGD:732065	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 4 alpha aminobutyrate transaminase deficiency | ClinVar Annotator: match by term: GABA-TRANSAMINASE DEFICIENCY | ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency	PMID:16199547|PMID:17576681|PMID:20052547|PMID:25640679|PMID:25738457|PMID:25741868|PMID:26467025|PMID:27903293|PMID:28411234|PMID:28492532|PMID:29302074|PMID:30091983|PMID:30617166|PMID:31130284|PMID:31133775|PMID:38177409|PMID:9536098
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:620948	D	RGD:9068941	20200609	RGD			PMID:22634324|REF_RGD_ID:9588554
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732065	D	RGD:9068941	20200609	RGD			PMID:1627256|REF_RGD_ID:10046060
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:10763	hypertension		ISO	RGD:620948	D	RGD:9068941	20200609	RGD			PMID:1570022|REF_RGD_ID:1598531
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:1115	sarcoma		ISO	RGD:732065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:11832	visual epilepsy		ISO	RGD:732065	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:10407778
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:12849	autistic disorder		ISO	RGD:732065	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15830322
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:12858	Huntington's disease		ISO	RGD:732065	D	RGD:9068941	20200609	RGD			PMID:6237280|REF_RGD_ID:10046047
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:12858	Huntington's disease	treatment	ISO	RGD:620948	D	RGD:9068941	20200609	RGD			PMID:152600|REF_RGD_ID:10047058
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:1324	lung cancer		ISO	RGD:732065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:1596	depressive disorder		ISO	RGD:620948	D	RGD:9068941	20200609	RGD			PMID:21914462|REF_RGD_ID:9588556
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:1824	status epilepticus		ISO	RGD:620948	D	RGD:9068941	20200609	RGD			PMID:9344635|REF_RGD_ID:1598522
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:1826	epilepsy		ISO	RGD:620948	D	RGD:9068941	20241102	RGD			PMID:21935729|PMID:2753001|REF_RGD_ID:10047056|REF_RGD_ID:10047087
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:1826	epilepsy	treatment	ISO	RGD:620948	D	RGD:9068941	20241102	RGD			PMID:20109543|REF_RGD_ID:9588535
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:2548	reflex epilepsy		ISO	RGD:620948	D	RGD:9068941	20200609	RGD			PMID:9706369|REF_RGD_ID:1598520
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:326	ischemia		ISO	RGD:620948	D	RGD:9068941	20200609	RGD			PMID:10375453|REF_RGD_ID:1598516
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:3275	thymoma		ISO	RGD:732065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:5679	retinal disease		ISO	RGD:1332048	D	RGD:9068941	20200609	RGD			PMID:18412635|REF_RGD_ID:9588533
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:630	genetic disease		ISO	RGD:732065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:732065	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552517
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:732065	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552517
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:9001109	Anorexia		ISO	RGD:620948	D	RGD:9068941	20200609	RGD			PMID:6534893|REF_RGD_ID:10047083
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:732065	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:9001733	Tinnitus	treatment	ISO	RGD:620948	D	RGD:9068941	20200609	RGD			PMID:17221143|REF_RGD_ID:9588534
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:620948	D	RGD:9068941	20200609	RGD			PMID:24890317|REF_RGD_ID:9588557
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:732065	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10407778
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732065	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10407778
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:9005632	Cocaine-Related Disorders	treatment	ISO	RGD:620948	D	RGD:9068941	20200609	RGD			PMID:22128851|REF_RGD_ID:9588542
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620948	D	RGD:9068941	20200609	RGD			PMID:9846053|REF_RGD_ID:1598518
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:9008394	Drug-Induced Dyskinesia		ISO	RGD:620948	D	RGD:9068941	20200609	RGD			PMID:6445277|PMID:7740056|REF_RGD_ID:10047091|REF_RGD_ID:1598524
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:9008514	Psychomotor Disorders		ISO	RGD:732065	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10407778
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:9008617	Lethargy		ISO	RGD:732065	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10407778
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8812203	Abat	4-aminobutyrate aminotransferase	gene	DOID:9976	heroin dependence		ISO	RGD:620948	D	RGD:9068941	20200609	RGD			PMID:10900239|REF_RGD_ID:10046064
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:731726	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:0060249	scoliosis		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532|PMID:28859103|PMID:30796847
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:0070069	autosomal dominant intellectual developmental disorder 39		ISO	RGD:731726	D	RGD:7240710	20180130	OMIM			
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:0070069	autosomal dominant intellectual developmental disorder 39		ISO	RGD:731726	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 39 | ClinVar Annotator: match by term: MYT1L-related condition | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 39	PMID:25741868|PMID:28492532|PMID:33622623
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:0070309	absence epilepsy		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:1059	intellectual disability		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:23033978|PMID:25741868|PMID:28859103|PMID:30055078|PMID:34748075
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:10907	microcephaly		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:10908	hydrocephalus		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:10970	spastic quadriplegic cerebral palsy		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic quadriplegic cerebral palsy	
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:12849	autistic disorder		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:28859103|PMID:30796847
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:1324	lung cancer		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:13300	Scheuermann's disease		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Juvenile osteochondrosis of spine	PMID:25741868|PMID:28492532|PMID:28859103|PMID:30796847
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:13620	patent foramen ovale		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:1657	ventricular septal defect		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:1826	epilepsy		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:28492532|PMID:28859103|PMID:30796847
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:1827	generalized epilepsy		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:1882	atrial heart septal defect		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:1969	cerebral palsy		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:2394	ovarian cancer		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:25741868|PMID:28492532|PMID:28859103|PMID:30796847
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:3070	high grade glioma		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:480	movement disease		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:535	sleep disorder		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disorder	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:540	strabismus		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:630	genetic disease		ISO	RGD:731726	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:34748075
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:9001276	Failure to Thrive		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:9001366	Psychomotor Agitation		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Restlessness	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:9001581	Constipation		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:9002563	Gait Ataxia		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:9002569	Overweight		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532|PMID:28859103|PMID:30796847
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:9002916	Hyperphagia		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:9003133	Hypertelorism		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:9003816	Macrocephaly		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:731726	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:9004866	Ataxia		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:9005077	Joint Instability		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonic seizure	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:28859103|PMID:30796847
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:9007366	Pulmonary Artery Stenosis		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary artery stenosis	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:25741868
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:9007661	Dwarfism		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:28859103|PMID:30796847
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8812234	Myt1l	myelin transcription factor 1 like	gene	DOID:9970	obesity		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
8812317	Rnf126	ring finger protein 126	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8812317	Rnf126	ring finger protein 126	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8812317	Rnf126	ring finger protein 126	gene	DOID:1115	sarcoma		ISO	RGD:1314381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8812317	Rnf126	ring finger protein 126	gene	DOID:1909	melanoma		ISO	RGD:1314381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8812317	Rnf126	ring finger protein 126	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8812317	Rnf126	ring finger protein 126	gene	DOID:3275	thymoma		ISO	RGD:1314381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8812317	Rnf126	ring finger protein 126	gene	DOID:4362	cervical cancer		ISO	RGD:1314381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8812317	Rnf126	ring finger protein 126	gene	DOID:5041	esophageal cancer		ISO	RGD:1314381	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8812317	Rnf126	ring finger protein 126	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812317	Rnf126	ring finger protein 126	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314381	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8812332	Ap3s1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8812332	Ap3s1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8812332	Ap3s1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:1324	lung cancer		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8812332	Ap3s1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:1909	melanoma		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8812332	Ap3s1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8812332	Ap3s1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8812332	Ap3s1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322400	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8812332	Ap3s1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812332	Ap3s1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322400	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8812332	Ap3s1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8812348	Supt20h	SPT20 homolog, SAGA complex component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8812348	Supt20h	SPT20 homolog, SAGA complex component	gene	DOID:10534	stomach cancer		ISO	RGD:1343879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8812348	Supt20h	SPT20 homolog, SAGA complex component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8812348	Supt20h	SPT20 homolog, SAGA complex component	gene	DOID:1324	lung cancer		ISO	RGD:1343879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8812348	Supt20h	SPT20 homolog, SAGA complex component	gene	DOID:1909	melanoma		ISO	RGD:1343879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8812348	Supt20h	SPT20 homolog, SAGA complex component	gene	DOID:3070	high grade glioma		ISO	RGD:1343879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8812348	Supt20h	SPT20 homolog, SAGA complex component	gene	DOID:4362	cervical cancer		ISO	RGD:1343879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8812348	Supt20h	SPT20 homolog, SAGA complex component	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8812348	Supt20h	SPT20 homolog, SAGA complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812348	Supt20h	SPT20 homolog, SAGA complex component	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1343879	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	
8812348	Supt20h	SPT20 homolog, SAGA complex component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8812392	Snx33	sorting nexin 33	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8812392	Snx33	sorting nexin 33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812392	Snx33	sorting nexin 33	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8812398	Nup62	nucleoporin 62	gene	DOID:12236	primary biliary cholangitis	severity	ISO	RGD:1349933	D	RGD:9068941	20200609	RGD			PMID:12753810|REF_RGD_ID:9831196
8812398	Nup62	nucleoporin 62	gene	DOID:9008334	Striatonigral Degeneration, Infantile		ISO	RGD:1349933	D	RGD:7240710	20180130	OMIM			
8812414	Miip	migration and invasion inhibitory protein	gene	DOID:1324	lung cancer		ISO	RGD:1602214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8812414	Miip	migration and invasion inhibitory protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8812414	Miip	migration and invasion inhibitory protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1602214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8812414	Miip	migration and invasion inhibitory protein	gene	DOID:4362	cervical cancer		ISO	RGD:1602214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8812414	Miip	migration and invasion inhibitory protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812414	Miip	migration and invasion inhibitory protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8812414	Miip	migration and invasion inhibitory protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8812414	Miip	migration and invasion inhibitory protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8812414	Miip	migration and invasion inhibitory protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8812414	Miip	migration and invasion inhibitory protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8812414	Miip	migration and invasion inhibitory protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1602214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8812474	Ppp2r3c	protein phosphatase 2 regulatory subunit B''gamma	gene	DOID:0111921	spermatogenic failure 36		ISO	RGD:1319421	D	RGD:7240710	20190529	OMIM			
8812474	Ppp2r3c	protein phosphatase 2 regulatory subunit B''gamma	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8812474	Ppp2r3c	protein phosphatase 2 regulatory subunit B''gamma	gene	DOID:9002447	Myoectodermal Gonadal Dysgenesis Syndrome		ISO	RGD:1319421	D	RGD:7240710	20191023	OMIM			
8812503	Pphln1	periphilin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8812503	Pphln1	periphilin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8812503	Pphln1	periphilin 1	gene	DOID:1115	sarcoma		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8812503	Pphln1	periphilin 1	gene	DOID:1324	lung cancer		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8812503	Pphln1	periphilin 1	gene	DOID:3070	high grade glioma		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8812503	Pphln1	periphilin 1	gene	DOID:3275	thymoma		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8812503	Pphln1	periphilin 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8812503	Pphln1	periphilin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8812503	Pphln1	periphilin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8812503	Pphln1	periphilin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812503	Pphln1	periphilin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8812503	Pphln1	periphilin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8812503	Pphln1	periphilin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8812503	Pphln1	periphilin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8812503	Pphln1	periphilin 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8812521	Tspan2	tetraspanin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8812521	Tspan2	tetraspanin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8812521	Tspan2	tetraspanin 2	gene	DOID:0051061	stroke		ISO	RGD:1344307	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29531354
8812521	Tspan2	tetraspanin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8812521	Tspan2	tetraspanin 2	gene	DOID:1324	lung cancer		ISO	RGD:1344307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8812521	Tspan2	tetraspanin 2	gene	DOID:3275	thymoma		ISO	RGD:1344307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8812521	Tspan2	tetraspanin 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8812521	Tspan2	tetraspanin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1344307	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8812521	Tspan2	tetraspanin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812521	Tspan2	tetraspanin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8812521	Tspan2	tetraspanin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8812521	Tspan2	tetraspanin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8812534	Sf3b3	splicing factor 3b subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8812534	Sf3b3	splicing factor 3b subunit 3	gene	DOID:10283	prostate cancer		ISO	RGD:1323197	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8812534	Sf3b3	splicing factor 3b subunit 3	gene	DOID:10283	prostate cancer		ISO	RGD:1323197	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8812534	Sf3b3	splicing factor 3b subunit 3	gene	DOID:10534	stomach cancer		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8812534	Sf3b3	splicing factor 3b subunit 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8812534	Sf3b3	splicing factor 3b subunit 3	gene	DOID:1115	sarcoma		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8812534	Sf3b3	splicing factor 3b subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8812534	Sf3b3	splicing factor 3b subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8812534	Sf3b3	splicing factor 3b subunit 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8812534	Sf3b3	splicing factor 3b subunit 3	gene	DOID:3275	thymoma		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8812534	Sf3b3	splicing factor 3b subunit 3	gene	DOID:4362	cervical cancer		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8812534	Sf3b3	splicing factor 3b subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1323197	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8812534	Sf3b3	splicing factor 3b subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812534	Sf3b3	splicing factor 3b subunit 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8812534	Sf3b3	splicing factor 3b subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8812534	Sf3b3	splicing factor 3b subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8812534	Sf3b3	splicing factor 3b subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
8812534	Sf3b3	splicing factor 3b subunit 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8812564	Arhgap6	Rho GTPase activating protein 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8812564	Arhgap6	Rho GTPase activating protein 6	gene	DOID:10629	microphthalmia		ISO	RGD:1623320	D	RGD:9068941	20220825	MouseDO		OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972	
8812564	Arhgap6	Rho GTPase activating protein 6	gene	DOID:3275	thymoma		ISO	RGD:1349829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8812564	Arhgap6	Rho GTPase activating protein 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349829	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8812564	Arhgap6	Rho GTPase activating protein 6	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1349829	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
8812564	Arhgap6	Rho GTPase activating protein 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8812564	Arhgap6	Rho GTPase activating protein 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8812593	Wtip	WT1 interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1343375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8812593	Wtip	WT1 interacting protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8812593	Wtip	WT1 interacting protein	gene	DOID:3275	thymoma		ISO	RGD:1343375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8812593	Wtip	WT1 interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8812593	Wtip	WT1 interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8812605	Adig	adipogenin	gene	DOID:1115	sarcoma		ISO	RGD:1606699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8812617	Rps17	ribosomal protein S17	gene	DOID:0111890	Diamond-Blackfan anemia 4		ISO	RGD:1351474	D	RGD:7240710	20180130	OMIM			
8812617	Rps17	ribosomal protein S17	gene	DOID:0111890	Diamond-Blackfan anemia 4		ISO	RGD:1351474	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 4 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 4	PMID:17647292|PMID:19953637|PMID:25741868
8812617	Rps17	ribosomal protein S17	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:1351474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:25741868
8812617	Rps17	ribosomal protein S17	gene	DOID:1342	congenital hypoplastic anemia		ISO	RGD:1351474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypoplastic anemia	PMID:25741868
8812626	Memo1	mediator of cell motility 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8812626	Memo1	mediator of cell motility 1	gene	DOID:1324	lung cancer		ISO	RGD:1320537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8812626	Memo1	mediator of cell motility 1	gene	DOID:1909	melanoma		ISO	RGD:1320537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8812626	Memo1	mediator of cell motility 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8812626	Memo1	mediator of cell motility 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8812626	Memo1	mediator of cell motility 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8812626	Memo1	mediator of cell motility 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8812626	Memo1	mediator of cell motility 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812626	Memo1	mediator of cell motility 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8812626	Memo1	mediator of cell motility 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8812626	Memo1	mediator of cell motility 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8812642	Clec9a	C-type lectin domain containing 9A	gene	DOID:1324	lung cancer		ISO	RGD:1343177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8812642	Clec9a	C-type lectin domain containing 9A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8812642	Clec9a	C-type lectin domain containing 9A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812642	Clec9a	C-type lectin domain containing 9A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:0060009	MHC class I deficiency		ISO	RGD:736475	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BLS, TYPE I | ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: MHC class I deficiency	PMID:10074494|PMID:10074495|PMID:15897556|PMID:16199547|PMID:16624613|PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:0060058	lymphoma		ISO	RGD:736475	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:0081463	recurrent respiratory papillomatosis	severity	ISO	RGD:736475	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.D637G(human)	PMID:14976605|REF_RGD_ID:5147844
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:10316	pneumoconiosis		ISO	RGD:736475	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506645
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:10534	stomach cancer		ISO	RGD:736475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:1067	open-angle glaucoma	susceptibility	ISO	RGD:736475	D	RGD:9068941	20200609	RGD		DNA:SNPs: :p. I333V, D637G (human)	PMID:15887980|REF_RGD_ID:6482266
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:1205	allergic disease		ISO	RGD:736475	D	RGD:9068941	20200609	RGD		DNA:polymorphism, haplotype: :p.V333I (human)	PMID:11591192|REF_RGD_ID:8548785
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:1324	lung cancer		ISO	RGD:736475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:1580	diffuse scleroderma	susceptibility	ISO	RGD:736475	D	RGD:9068941	20200609	RGD			PMID:16112028|REF_RGD_ID:1578361
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:1909	melanoma		ISO	RGD:736475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:2841	asthma	susceptibility	ISO	RGD:736475	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :	PMID:12640628|REF_RGD_ID:5147845
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:736475	D	RGD:9068941	20200609	RGD		associated with HIV Infections;	PMID:21843574|REF_RGD_ID:6482248
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:3275	thymoma		ISO	RGD:736475	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:24033266|PMID:25741868|PMID:28492532
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:736475	D	RGD:9068941	20200609	RGD		protein:decreased expression:esophagus	PMID:19492245|REF_RGD_ID:6482249
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:4362	cervical cancer		ISO	RGD:736475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:4362	cervical cancer	susceptibility	ISO	RGD:736475	D	RGD:9068941	20200609	RGD		DNA:SNPs: :	PMID:12648582|REF_RGD_ID:6482272
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:4483	rhinitis	no_association	ISO	RGD:736475	D	RGD:9068941	20200609	RGD			PMID:12018331|REF_RGD_ID:6482274
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:4483	rhinitis	susceptibility	ISO	RGD:736475	D	RGD:9068941	20200609	RGD		DNA:SNPs: :	PMID:17982230|REF_RGD_ID:6482262
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736475	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:5419	schizophrenia		ISO	RGD:736475	D	RGD:9068941	20200609	RGD			PMID:19217216|REF_RGD_ID:6482251
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:6039	uveal melanoma		ISO	RGD:736475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736475	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:28492532
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:6196	reactive arthritis		ISO	RGD:736475	D	RGD:9068941	20200609	RGD			PMID:7748224|REF_RGD_ID:6482278
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:630	genetic disease		ISO	RGD:736475	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:736475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:736475	D	RGD:9068941	20200609	RGD		DNA:SNPs: :	PMID:19480848|REF_RGD_ID:6482250
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:841	extrinsic allergic alveolitis	susceptibility	ISO	RGD:736475	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:cds:P. D637G, P661P (human)	PMID:18342853|REF_RGD_ID:5147840
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:8893	psoriasis	susceptibility	ISO	RGD:736475	D	RGD:9068941	20200609	RGD		DNA:missense mutation, haplotype:cds:p.I333V (1207A>G) (human)	PMID:11194890|REF_RGD_ID:8548788
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736475	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:736475	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:9007557	Laryngeal Papillomatosis		ISO	RGD:736475	D	RGD:9068941	20200609	RGD			PMID:10618282|REF_RGD_ID:5147846
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:736475	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:blood	PMID:21843574|REF_RGD_ID:6482248
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736475	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:24033266|PMID:25741868|PMID:28492532
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:9009393	MHC CLASS I DEFICIENCY 1		ISO	RGD:736475	D	RGD:7240710	20251008	OMIM			
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:9009393	MHC CLASS I DEFICIENCY 1		ISO	RGD:736475	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MHC CLASS I DEFICIENCY 1 | ClinVar Annotator: match by term: MHC class I deficiency 1	PMID:10074494|PMID:10074495|PMID:16299152|PMID:24033266|PMID:25741868|PMID:28492532
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:9074	systemic lupus erythematosus	no_association	ISO	RGD:736475	D	RGD:9068941	20200609	RGD			PMID:9014588|REF_RGD_ID:6482277
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:9563	bronchiectasis	susceptibility	ISO	RGD:736475	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:cds:p. I333V, D637G (human)	PMID:17245734|REF_RGD_ID:5147842
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:11387	D	RGD:9068941	20200609	RGD		DNA:mutation:promoter (mouse)	PMID:9300732|REF_RGD_ID:2312370
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:736475	D	RGD:9068941	20200609	RGD		DNA:insertion:intron (human)	PMID:9458110|REF_RGD_ID:2312369
8812671	Tap1	transporter 1, ATP binding cassette subfamily B member	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:736475	D	RGD:9068941	20200609	RGD		DNA:polymorphisms (human)	PMID:9129974|REF_RGD_ID:2312371
8812691	Tekt1	tektin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8812691	Tekt1	tektin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812691	Tekt1	tektin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8812711	Gja5	gap junction protein alpha 5	gene	DOID:0060224	atrial fibrillation		ISO	RGD:736164	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATRIAL FIBRILLATION, SOMATIC | ClinVar Annotator: match by term: Atrial fibrillation	PMID:16790700|PMID:24060583|PMID:24144883|PMID:25741868|PMID:25741878|PMID:26503720|PMID:28074886|PMID:28457700|PMID:28492532|PMID:30847666
8812711	Gja5	gap junction protein alpha 5	gene	DOID:0060411	chromosome 1q21.1 deletion syndrome		ISO	RGD:736164	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	
8812711	Gja5	gap junction protein alpha 5	gene	DOID:0070355	overactive bladder syndrome		ISO	RGD:2692	D	RGD:9068941	20200609	RGD		mRNA:increased expression:urinary bladder	PMID:17855776|REF_RGD_ID:7207474
8812711	Gja5	gap junction protein alpha 5	gene	DOID:0080662	atrial standstill 1		ISO	RGD:736164	D	RGD:7240710	20180130	OMIM			
8812711	Gja5	gap junction protein alpha 5	gene	DOID:0080662	atrial standstill 1		ISO	RGD:736164	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial standstill 1 | ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE | ClinVar Annotator: match by term: Cardiomyopathy, Familial, with Conduction Disturbance	PMID:16790700|PMID:21921585|PMID:22199024|PMID:22713807|PMID:22912587|PMID:24060583|PMID:24144883|PMID:25205790|PMID:25650408|PMID:25741868|PMID:25741878|PMID:26137477|PMID:26179811|PMID:26279651|PMID:26503720|PMID:26820365|PMID:27930557|PMID:28074886|PMID:28457700|PMID:28492532|PMID:30847666|PMID:34495297|PMID:37198425
8812711	Gja5	gap junction protein alpha 5	gene	DOID:10763	hypertension		ISO	RGD:2692	D	RGD:9068941	20200609	RGD		protein:decreased expression:artery endothelium	PMID:11821709|REF_RGD_ID:7207848
8812711	Gja5	gap junction protein alpha 5	gene	DOID:10763	hypertension		ISO	RGD:736164	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19109587
8812711	Gja5	gap junction protein alpha 5	gene	DOID:10763	hypertension	treatment	ISO	RGD:2692	D	RGD:9068941	20200609	RGD			PMID:19686729|REF_RGD_ID:7207417
8812711	Gja5	gap junction protein alpha 5	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:736164	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	
8812711	Gja5	gap junction protein alpha 5	gene	DOID:1591	renovascular hypertension		ISO	RGD:2692	D	RGD:9068941	20200609	RGD			PMID:11422751|REF_RGD_ID:7207851
8812711	Gja5	gap junction protein alpha 5	gene	DOID:2921	glomerulonephritis		ISO	RGD:2692	D	RGD:9068941	20200609	RGD			PMID:22945766|REF_RGD_ID:7207390
8812711	Gja5	gap junction protein alpha 5	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:736164	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	
8812711	Gja5	gap junction protein alpha 5	gene	DOID:5199	ureteral obstruction		ISO	RGD:2692	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:12644912|REF_RGD_ID:7207847
8812711	Gja5	gap junction protein alpha 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812711	Gja5	gap junction protein alpha 5	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:2692	D	RGD:9068941	20200609	RGD			PMID:29428663|REF_RGD_ID:13592597
8812711	Gja5	gap junction protein alpha 5	gene	DOID:630	genetic disease		ISO	RGD:736164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8812711	Gja5	gap junction protein alpha 5	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:736164	D	RGD:9068941	20200609	RGD		DNA:duplications	PMID:22199024|REF_RGD_ID:7207464
8812711	Gja5	gap junction protein alpha 5	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:736165	D	RGD:9068941	20220825	MouseDO		OMIM:187500	
8812711	Gja5	gap junction protein alpha 5	gene	DOID:9000998	Brain Injuries		ISO	RGD:2692	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral artery	PMID:21895483|REF_RGD_ID:7207391
8812711	Gja5	gap junction protein alpha 5	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:2692	D	RGD:9068941	20200609	RGD			PMID:19077877|REF_RGD_ID:7207423
8812711	Gja5	gap junction protein alpha 5	gene	DOID:9004484	Sepsis		ISO	RGD:2692	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:aorta endothelium	PMID:15942348|REF_RGD_ID:7207815
8812711	Gja5	gap junction protein alpha 5	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2692	D	RGD:9068941	20200609	RGD			PMID:20609064|REF_RGD_ID:7207415
8812711	Gja5	gap junction protein alpha 5	gene	DOID:9008693	Familial Atrial Fibrillation 11		ISO	RGD:736164	D	RGD:7240710	20180130	OMIM			
8812711	Gja5	gap junction protein alpha 5	gene	DOID:9008693	Familial Atrial Fibrillation 11		ISO	RGD:736164	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATRIAL FIBRILLATION, FAMILIAL, 11 | ClinVar Annotator: match by term: Atrial fibrillation, familial, 11	PMID:16790700|PMID:20650941|PMID:20818502|PMID:21921585|PMID:22199024|PMID:22713807|PMID:22912587|PMID:23292621|PMID:23348765|PMID:24060583|PMID:24144883|PMID:25205790|PMID:25650408|PMID:25741868|PMID:25741878|PMID:26137477|PMID:26179811|PMID:26503720|PMID:26820365|PMID:27930557|PMID:28074886|PMID:28398664|PMID:28457700|PMID:28492532|PMID:30847666|PMID:34495297|PMID:37198425
8812711	Gja5	gap junction protein alpha 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8812711	Gja5	gap junction protein alpha 5	gene	DOID:9970	obesity		ISO	RGD:2692	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:mesenteric artery	PMID:18324386|REF_RGD_ID:7207466
8812727	U2surp	U2 snRNP associated SURP domain containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8812727	U2surp	U2 snRNP associated SURP domain containing	gene	DOID:0060058	lymphoma		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8812727	U2surp	U2 snRNP associated SURP domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8812727	U2surp	U2 snRNP associated SURP domain containing	gene	DOID:1115	sarcoma		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8812727	U2surp	U2 snRNP associated SURP domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8812727	U2surp	U2 snRNP associated SURP domain containing	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8812727	U2surp	U2 snRNP associated SURP domain containing	gene	DOID:5041	esophageal cancer		ISO	RGD:4892414	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8812727	U2surp	U2 snRNP associated SURP domain containing	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8812727	U2surp	U2 snRNP associated SURP domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812727	U2surp	U2 snRNP associated SURP domain containing	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8812727	U2surp	U2 snRNP associated SURP domain containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8812727	U2surp	U2 snRNP associated SURP domain containing	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:4892414	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8812727	U2surp	U2 snRNP associated SURP domain containing	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8812727	U2surp	U2 snRNP associated SURP domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8812727	U2surp	U2 snRNP associated SURP domain containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8812727	U2surp	U2 snRNP associated SURP domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8812769	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:0060795	hypomyelinating leukodystrophy 13		ISO	RGD:1604822	D	RGD:7240710	20190315	OMIM			
8812769	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:0060795	hypomyelinating leukodystrophy 13		ISO	RGD:1604822	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 13 | ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 13	PMID:25741868|PMID:26545878|PMID:28492532|PMID:31912665|PMID:34111619|PMID:35032046|PMID:37267771|PMID:37965292
8812769	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:10534	stomach cancer		ISO	RGD:1604822	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8812769	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:1115	sarcoma		ISO	RGD:1604822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8812769	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:1324	lung cancer		ISO	RGD:1604822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8812769	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:1826	epilepsy		ISO	RGD:1604822	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8812769	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:1909	melanoma		ISO	RGD:1604822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
8812769	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:4362	cervical cancer		ISO	RGD:1604822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8812769	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812769	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604822	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8812769	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:630	genetic disease		ISO	RGD:1604822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25760597|PMID:28492532|PMID:39317134
8812769	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1604822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8812769	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:9000918	Disease Progression		ISO	RGD:1604822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8812769	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604822	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8812769	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604822	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8812783	Myl11	myosin light chain 11	gene	DOID:0050646	distal arthrogryposis		ISO	RGD:1603646	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Distal arthrogryposis	
8812783	Myl11	myosin light chain 11	gene	DOID:0112190	distal arthrogryposis type 1C		ISO	RGD:1603646	D	RGD:7240710	20201223	OMIM			
8812783	Myl11	myosin light chain 11	gene	DOID:0112190	distal arthrogryposis type 1C		ISO	RGD:1603646	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 1C | ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C | ClinVar Annotator: match by term: arthrogryposis, distal, type 1C	PMID:25741868
8812783	Myl11	myosin light chain 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812794	Blzf1	basic leucine zipper nuclear factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8812794	Blzf1	basic leucine zipper nuclear factor 1	gene	DOID:1909	melanoma		ISO	RGD:1349052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8812794	Blzf1	basic leucine zipper nuclear factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812794	Blzf1	basic leucine zipper nuclear factor 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1349052	D	RGD:9068941	20200609	RGD			PMID:26342799|REF_RGD_ID:14398326
8812794	Blzf1	basic leucine zipper nuclear factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8812794	Blzf1	basic leucine zipper nuclear factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:0080600	COVID-19		ISO	RGD:1601772	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:0111192	facioscapulohumeral muscular dystrophy 1		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 1	PMID:25741868
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:0111193	facioscapulohumeral muscular dystrophy 2		ISO	RGD:1601772	D	RGD:7240710	20180130	OMIM			
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:0111193	facioscapulohumeral muscular dystrophy 2		ISO	RGD:1601772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC | ClinVar Annotator: match by term: FSHD2, DIGENIC | ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 | ClinVar Annotator: match by term: SMCHD1-related condition | ClinVar Annotator: match by term: Weakness of facial musculature	PMID:16199547|PMID:17576681|PMID:23143600|PMID:24075187|PMID:24755953|PMID:25214167|PMID:25256356|PMID:25370034|PMID:25640679|PMID:25741868|PMID:25782668|PMID:26467025|PMID:27061275|PMID:28067909|PMID:28067911|PMID:28492532|PMID:31243061|PMID:32721234|PMID:34008892|PMID:35121673|PMID:37674478|PMID:38544359|PMID:9536098
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1601772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1601772	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Undescended testes	PMID:25741868|PMID:28067909
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1601772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1601772	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:25741868
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:25741868|PMID:28492532
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1601772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1601772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:540	strabismus		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28067909
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9004147	Anosmia		ISO	RGD:1601772	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anosmia | ClinVar Annotator: match by term: anosmia	PMID:28067909|PMID:28492532|PMID:31312724
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1601772	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:23143600|PMID:28492532
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9006386	Scapulohumeral Muscular Dystrophy		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scapulohumeral muscular dystrophy	PMID:25741868|PMID:28492532
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9007423	Arhinia, Choanal Atresia, and Microphthalmia		ISO	RGD:1601772	D	RGD:7240710	20190315	OMIM			
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9007423	Arhinia, Choanal Atresia, and Microphthalmia		ISO	RGD:1601772	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arhinia, choanal atresia, and microphthalmia | ClinVar Annotator: match by term: BOSMA ARHINIA MICROPHTHALMIA SYNDROME	PMID:25741868|PMID:26467025|PMID:28067909|PMID:28067911|PMID:28492532
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9296	cleft lip		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:25741868|PMID:28067909
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:936	brain disease		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
8812809	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9884	muscular dystrophy		ISO	RGD:1601772	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	
8812891	Plac8l1	PLAC8 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812891	Plac8l1	PLAC8 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:0070289	primary autosomal recessive microcephaly 16		ISO	RGD:1604388	D	RGD:7240710	20180130	OMIM			
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:0070289	primary autosomal recessive microcephaly 16		ISO	RGD:1604388	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANKLE2-related condition | ClinVar Annotator: match by term: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 16, primary, autosomal recessive	PMID:25259927|PMID:25741868|PMID:28492532|PMID:31735666
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:0070297	primary microcephaly		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25259927|PMID:25741868
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:1059	intellectual disability		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25259927|PMID:25741868
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:10907	microcephaly		ISO	RGD:1604388	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25259927
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:3070	high grade glioma		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:630	genetic disease		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25259927|PMID:25741868
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: hypotonia	PMID:25259927|PMID:25741868
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	PMID:25259927|PMID:25741868
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8812902	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:9834	hyperopia		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25259927|PMID:25741868
8812928	Drosha	drosha ribonuclease III	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8812928	Drosha	drosha ribonuclease III	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8812928	Drosha	drosha ribonuclease III	gene	DOID:0060058	lymphoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8812928	Drosha	drosha ribonuclease III	gene	DOID:10485	esophageal atresia		ISO	RGD:1605687	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
8812928	Drosha	drosha ribonuclease III	gene	DOID:12336	male infertility		ISO	RGD:1605687	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22381205
8812928	Drosha	drosha ribonuclease III	gene	DOID:1324	lung cancer		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8812928	Drosha	drosha ribonuclease III	gene	DOID:1612	breast cancer		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
8812928	Drosha	drosha ribonuclease III	gene	DOID:1664	pineoblastoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pineoblastoma	PMID:27993330|PMID:30030436|PMID:31768671|PMID:31802236|PMID:31820118|PMID:32124011|PMID:35972537|PMID:37452938
8812928	Drosha	drosha ribonuclease III	gene	DOID:1826	epilepsy		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868
8812928	Drosha	drosha ribonuclease III	gene	DOID:1909	melanoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8812928	Drosha	drosha ribonuclease III	gene	DOID:2154	nephroblastoma		ISO	RGD:1605687	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
8812928	Drosha	drosha ribonuclease III	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8812928	Drosha	drosha ribonuclease III	gene	DOID:3275	thymoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8812928	Drosha	drosha ribonuclease III	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8812928	Drosha	drosha ribonuclease III	gene	DOID:4362	cervical cancer		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8812928	Drosha	drosha ribonuclease III	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8812928	Drosha	drosha ribonuclease III	gene	DOID:5041	esophageal cancer		ISO	RGD:1605687	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8812928	Drosha	drosha ribonuclease III	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812928	Drosha	drosha ribonuclease III	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8812928	Drosha	drosha ribonuclease III	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8812928	Drosha	drosha ribonuclease III	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8812928	Drosha	drosha ribonuclease III	gene	DOID:687	hepatoblastoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	PMID:25741868
8812928	Drosha	drosha ribonuclease III	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8812928	Drosha	drosha ribonuclease III	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8812928	Drosha	drosha ribonuclease III	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8812928	Drosha	drosha ribonuclease III	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8812928	Drosha	drosha ribonuclease III	gene	DOID:9256	colorectal cancer		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8812977	Mmp28	matrix metallopeptidase 28	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8812977	Mmp28	matrix metallopeptidase 28	gene	DOID:1324	lung cancer		ISO	RGD:1323102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8812977	Mmp28	matrix metallopeptidase 28	gene	DOID:4362	cervical cancer		ISO	RGD:1323102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8812977	Mmp28	matrix metallopeptidase 28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8812977	Mmp28	matrix metallopeptidase 28	gene	DOID:9006474	Arterial Occlusive Diseases		ISO	RGD:1323102	D	RGD:9068941	20230831	RGD		mRNA:decreased expression:leg blood vessel (human)	PMID:22721676|REF_RGD_ID:401793723
8812977	Mmp28	matrix metallopeptidase 28	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8812977	Mmp28	matrix metallopeptidase 28	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8813050	Bbof1	basal body orientation factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8813050	Bbof1	basal body orientation factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8813050	Bbof1	basal body orientation factor 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1346239	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8813050	Bbof1	basal body orientation factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346239	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8813050	Bbof1	basal body orientation factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8813050	Bbof1	basal body orientation factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8813050	Bbof1	basal body orientation factor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1346239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8813071	Rps16	ribosomal protein S16	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8813071	Rps16	ribosomal protein S16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8813071	Rps16	ribosomal protein S16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8813071	Rps16	ribosomal protein S16	gene	DOID:1324	lung cancer		ISO	RGD:737248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8813071	Rps16	ribosomal protein S16	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8813071	Rps16	ribosomal protein S16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813071	Rps16	ribosomal protein S16	gene	DOID:6039	uveal melanoma		ISO	RGD:737248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8813071	Rps16	ribosomal protein S16	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8813071	Rps16	ribosomal protein S16	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:0050152	aspiration pneumonia		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Aspiration pneumonia	PMID:11093277
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:0050776	non-syndromic X-linked intellectual disability		ISO	RGD:1351228	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.P312L (human)	PMID:11940089|REF_RGD_ID:11554032
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:0060254	Robinow syndrome		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Robinow syndrome	
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:0060320	inguinal hernia		ISO	RGD:1351228	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868|PMID:28492532
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:0060328	anal fistula		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Anal fistula	PMID:11093277
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:0060809	syndromic X-linked intellectual disability Claes-Jensen type		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 16 | ClinVar Annotator: match by term: Mental retardation, X-linked syndromic 16	PMID:25741868|PMID:28492532
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:0060827	X-linked intellectual disability-psychosis-macroorchidism syndrome		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 16	PMID:25741868|PMID:28492532
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:19261807|PMID:28492532|PMID:8969170
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:0111824	Aarskog syndrome		ISO	RGD:1351228	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AARSKOG-SCOTT SYNDROME | ClinVar Annotator: match by term: Aarskog disease | ClinVar Annotator: match by term: Aarskog syndrome	PMID:10930571|PMID:11093277|PMID:14560308|PMID:15809997|PMID:17152066|PMID:17847065|PMID:20082460|PMID:21739585|PMID:21965325|PMID:23211637|PMID:25046119|PMID:25741868|PMID:26029706|PMID:27959697|PMID:28492532|PMID:29276006
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:10283	prostate cancer		ISO	RGD:1351228	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland (human)	PMID:19141649|REF_RGD_ID:11554027
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:10376	amblyopia		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:1059	intellectual disability		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:21739585|PMID:23211637|PMID:25046119|PMID:25741868|PMID:26029706|PMID:28492532
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:10629	microphthalmia		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:11093277
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:10907	microcephaly		ISO	RGD:1351228	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:11093277
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1351228	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15809997
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:11111	hydronephrosis		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:14560308|PMID:17847065|PMID:21965325
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:11193	syndactyly		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndactyly	PMID:25741868
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:13317	hyperinsulinemic hypoglycemia		ISO	RGD:1351228	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia	PMID:25741868|PMID:28492532
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1351228	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868|PMID:28492532
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:14681	Silver-Russell syndrome		ISO	RGD:1351228	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Russell-Silver syndrome	PMID:25741868|PMID:28492532
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1351228	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28492532
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1351228	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:14560308|PMID:17847065|PMID:21965325
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:255	hemangioma		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:14560308|PMID:17847065|PMID:19261807|PMID:21965325|PMID:28492532|PMID:8969170
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:2725	capillary hemangioma		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Capillary hemangioma	PMID:25741868
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1351228	D	RGD:9068941	20200609	RGD		protein:increased expression:breast (human)	PMID:19141649|REF_RGD_ID:11554027
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11093277|PMID:14560308|PMID:17576681|PMID:17847065|PMID:19261807|PMID:19344873|PMID:20082460|PMID:21739585|PMID:21965325|PMID:23211637|PMID:23375260|PMID:24033266|PMID:25046119|PMID:25741868|PMID:26029706|PMID:27535533|PMID:27959697|PMID:28492532|PMID:8969170|PMID:9536098
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:6683	X-linked Aarskog syndrome		ISO	RGD:1351228	D	RGD:7240710	20180130	OMIM			
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:6683	X-linked Aarskog syndrome		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: FGD1-Related Disorders | ClinVar Annotator: match by term: FGD1-related condition	PMID:000740980|PMID:11940089|PMID:21739585|PMID:23211637|PMID:25046119|PMID:25741868|PMID:26029706|PMID:26467025|PMID:28492532|PMID:7954831
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1351228	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:11093277|PMID:25741868|PMID:28492532
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:8927	learning disability		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9000067	Congenital Foot Deformities		ISO	RGD:1351228	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11940089
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9000590	Dyspnea		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:19261807|PMID:28492532|PMID:8969170
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9001031	Retrognathia		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1351228	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:11093277
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:19261807|PMID:28492532|PMID:8969170
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9001581	Constipation		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:19261807|PMID:28492532|PMID:8969170
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9001611	Urogenital Abnormalities		ISO	RGD:1351228	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10930571|PMID:11093277|PMID:7954831
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:11093277|PMID:19261807|PMID:28492532|PMID:8969170
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9002554	Tachycardia		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:11093277
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9002580	Metatarsus Varus		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metatarsus adductus	PMID:25741868
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:14560308|PMID:17847065|PMID:19261807|PMID:21965325|PMID:25741868|PMID:28492532|PMID:8969170
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:11093277
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9004992	Apnea		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Apnea	PMID:11093277
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1351228	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11940089
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1351228	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868|PMID:28492532
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9006257	Growth Disorders		ISO	RGD:1351228	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10930571|PMID:11093277|PMID:11940089|PMID:7954831
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1351228	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11093277
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:21739585|PMID:23211637|PMID:25046119|PMID:26029706|PMID:28492532
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9007152	Talipes		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Talipes	PMID:25741868
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1351228	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature | ClinVar Annotator: match by term: Short stature	PMID:19261807|PMID:25741868|PMID:28492532|PMID:8969170
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9008617	Lethargy		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:11093277
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1351228	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7954831
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9008811	Tachypnea		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:11093277
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8813080	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9970	obesity		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
8813105	Has2	hyaluronan synthase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8813105	Has2	hyaluronan synthase 2	gene	DOID:2987	familial Mediterranean fever		ISO	RGD:12177236	D	RGD:9068941	20250717	OMIA		Periodic Fever Syndrome	PMID:1606750|PMID:20080661|PMID:20178474|PMID:21437276|PMID:21718367|PMID:22268374|PMID:24130694|PMID:25040095|PMID:27107962|PMID:28472921|PMID:34861369|PMID:36978210|PMID:38093396|PMID:8270767
8813105	Has2	hyaluronan synthase 2	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:2781	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:11283406|REF_RGD_ID:9588631
8813105	Has2	hyaluronan synthase 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:2781	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:19915162|REF_RGD_ID:9588633
8813105	Has2	hyaluronan synthase 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2781	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA:increased expression:renal medulla	PMID:18441392|REF_RGD_ID:9588630
8813105	Has2	hyaluronan synthase 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:2781	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:18196276|REF_RGD_ID:2289364
8813105	Has2	hyaluronan synthase 2	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:2781	D	RGD:9068941	20200609	RGD			PMID:22529164|REF_RGD_ID:9588636
8813105	Has2	hyaluronan synthase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8813105	Has2	hyaluronan synthase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8813105	Has2	hyaluronan synthase 2	gene	DOID:9409	diabetes insipidus		ISO	RGD:2781	D	RGD:9068941	20200609	RGD			PMID:19496322|REF_RGD_ID:9588637
8813111	Rab34	RAB34, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8813111	Rab34	RAB34, member RAS oncogene family	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1312861	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Jeune's syndrome	PMID:25741868|PMID:37619988
8813111	Rab34	RAB34, member RAS oncogene family	gene	DOID:0060962	orofaciodigital syndrome XX		ISO	RGD:1312861	D	RGD:7240710	20240221	OMIM			
8813111	Rab34	RAB34, member RAS oncogene family	gene	DOID:0060962	orofaciodigital syndrome XX		ISO	RGD:1312861	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XX	PMID:25741868
8813111	Rab34	RAB34, member RAS oncogene family	gene	DOID:1909	melanoma		ISO	RGD:1312861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8813111	Rab34	RAB34, member RAS oncogene family	gene	DOID:3275	thymoma		ISO	RGD:1312861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8813111	Rab34	RAB34, member RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:1312861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8813111	Rab34	RAB34, member RAS oncogene family	gene	DOID:5041	esophageal cancer		ISO	RGD:1312861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8813111	Rab34	RAB34, member RAS oncogene family	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8813111	Rab34	RAB34, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813111	Rab34	RAB34, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8813111	Rab34	RAB34, member RAS oncogene family	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8813137	Nrg2	neuregulin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8813137	Nrg2	neuregulin 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606028	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8813137	Nrg2	neuregulin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8813137	Nrg2	neuregulin 2	gene	DOID:1115	sarcoma		ISO	RGD:1606028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8813137	Nrg2	neuregulin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8813137	Nrg2	neuregulin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813137	Nrg2	neuregulin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8813137	Nrg2	neuregulin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8813158	Pym1	PYM1 exon junction complex associated factor	gene	DOID:1324	lung cancer		ISO	RGD:1601845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8813158	Pym1	PYM1 exon junction complex associated factor	gene	DOID:4362	cervical cancer		ISO	RGD:1601845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8813158	Pym1	PYM1 exon junction complex associated factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8813165	Ranbp1	RAN binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8813165	Ranbp1	RAN binding protein 1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:1310521	D	RGD:9068941	20200609	RGD		protein:increased expression:sciatic nerve (rat)	PMID:18667152|REF_RGD_ID:9835000
8813165	Ranbp1	RAN binding protein 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1321469	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart ventricle, cytoplasm (human)	PMID:25341891|REF_RGD_ID:9835001
8813165	Ranbp1	RAN binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1321469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8813165	Ranbp1	RAN binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8813165	Ranbp1	RAN binding protein 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1321469	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8813165	Ranbp1	RAN binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813165	Ranbp1	RAN binding protein 1	gene	DOID:5844	myocardial infarction		ISO	RGD:1310521	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart ventricle, cytoplasm (rat)	PMID:25341891|REF_RGD_ID:9835001
8813165	Ranbp1	RAN binding protein 1	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1321469	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28321044
8813165	Ranbp1	RAN binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8813197	Rad54b	RAD54 homolog B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8813197	Rad54b	RAD54 homolog B	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1604371	D	RGD:7240710	20180130	OMIM			
8813197	Rad54b	RAD54 homolog B	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1604371	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Non-Hodgkin lymphoma	PMID:28492532
8813197	Rad54b	RAD54 homolog B	gene	DOID:10534	stomach cancer		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8813197	Rad54b	RAD54 homolog B	gene	DOID:1115	sarcoma		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8813197	Rad54b	RAD54 homolog B	gene	DOID:1324	lung cancer		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8813197	Rad54b	RAD54 homolog B	gene	DOID:1520	colon carcinoma		ISO	RGD:1604371	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon	
8813197	Rad54b	RAD54 homolog B	gene	DOID:1909	melanoma		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8813197	Rad54b	RAD54 homolog B	gene	DOID:3275	thymoma		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8813197	Rad54b	RAD54 homolog B	gene	DOID:4362	cervical cancer		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8813197	Rad54b	RAD54 homolog B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8813197	Rad54b	RAD54 homolog B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813197	Rad54b	RAD54 homolog B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8813197	Rad54b	RAD54 homolog B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8813197	Rad54b	RAD54 homolog B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604371	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8813197	Rad54b	RAD54 homolog B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8813197	Rad54b	RAD54 homolog B	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1604371	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	
8813197	Rad54b	RAD54 homolog B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8813197	Rad54b	RAD54 homolog B	gene	DOID:9256	colorectal cancer		ISO	RGD:1604371	D	RGD:7240710	20200226	OMIM			
8813197	Rad54b	RAD54 homolog B	gene	DOID:9256	colorectal cancer		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
8813216	Cnpy3	canopy FGF signaling regulator 3	gene	DOID:0080432	developmental and epileptic encephalopathy 60		ISO	RGD:1319430	D	RGD:7240710	20190315	OMIM			
8813230	Rin3	Ras and Rab interactor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8813230	Rin3	Ras and Rab interactor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8813230	Rin3	Ras and Rab interactor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8813230	Rin3	Ras and Rab interactor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8813230	Rin3	Ras and Rab interactor 3	gene	DOID:1115	sarcoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8813230	Rin3	Ras and Rab interactor 3	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1314128	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
8813230	Rin3	Ras and Rab interactor 3	gene	DOID:1909	melanoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8813230	Rin3	Ras and Rab interactor 3	gene	DOID:3275	thymoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8813230	Rin3	Ras and Rab interactor 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8813230	Rin3	Ras and Rab interactor 3	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1314128	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
8813230	Rin3	Ras and Rab interactor 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8813230	Rin3	Ras and Rab interactor 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1314128	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8813230	Rin3	Ras and Rab interactor 3	gene	DOID:5408	Paget disease of bone		ISO	RGD:1314128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21623375
8813230	Rin3	Ras and Rab interactor 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8813230	Rin3	Ras and Rab interactor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813230	Rin3	Ras and Rab interactor 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8813230	Rin3	Ras and Rab interactor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8813245	Mtcl1	microtubule crosslinking factor 1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1348438	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:30548255
8813245	Mtcl1	microtubule crosslinking factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8813245	Mtcl1	microtubule crosslinking factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8813245	Mtcl1	microtubule crosslinking factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8813245	Mtcl1	microtubule crosslinking factor 1	gene	DOID:1441	autosomal dominant cerebellar ataxia		ISO	RGD:1348438	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia	PMID:23902687|PMID:25741868
8813245	Mtcl1	microtubule crosslinking factor 1	gene	DOID:1909	melanoma		ISO	RGD:1348438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8813245	Mtcl1	microtubule crosslinking factor 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1348438	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28166215
8813245	Mtcl1	microtubule crosslinking factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8813245	Mtcl1	microtubule crosslinking factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813245	Mtcl1	microtubule crosslinking factor 1	gene	DOID:630	genetic disease		ISO	RGD:1348438	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	
8813245	Mtcl1	microtubule crosslinking factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8813245	Mtcl1	microtubule crosslinking factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8813277	Neu3	neuraminidase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1347886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8813277	Neu3	neuraminidase 3	gene	DOID:3275	thymoma		ISO	RGD:1347886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8813277	Neu3	neuraminidase 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8813277	Neu3	neuraminidase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1347886	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8813277	Neu3	neuraminidase 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1347886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8813277	Neu3	neuraminidase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8813277	Neu3	neuraminidase 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1347886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8813277	Neu3	neuraminidase 3	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1347886	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
8813277	Neu3	neuraminidase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8813277	Neu3	neuraminidase 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1347886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8813303	Chct1	CHD1 helical C-terminal domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8813303	Chct1	CHD1 helical C-terminal domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813315	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8813315	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:10534	stomach cancer		ISO	RGD:1321839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8813315	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8813315	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:1115	sarcoma		ISO	RGD:1321839	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8813315	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8813315	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1321839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8813315	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8813315	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1321839	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8813315	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813315	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8813315	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8813315	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
8813315	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8813341	Nlrp14	NLR family pyrin domain containing 14	gene	DOID:0111910	spermatogenic failure		ISO	RGD:1315283	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure	PMID:16931801|PMID:20981092|PMID:22344438|PMID:24033266|PMID:25741868
8813341	Nlrp14	NLR family pyrin domain containing 14	gene	DOID:1115	sarcoma		ISO	RGD:1315283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8813341	Nlrp14	NLR family pyrin domain containing 14	gene	DOID:1909	melanoma		ISO	RGD:1315283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8813341	Nlrp14	NLR family pyrin domain containing 14	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8813341	Nlrp14	NLR family pyrin domain containing 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1315283	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8813341	Nlrp14	NLR family pyrin domain containing 14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8813341	Nlrp14	NLR family pyrin domain containing 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8813357	Tdrd6	tudor domain containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8813357	Tdrd6	tudor domain containing 6	gene	DOID:12336	male infertility		ISO	RGD:1314293	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Male infertility	
8813357	Tdrd6	tudor domain containing 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8813357	Tdrd6	tudor domain containing 6	gene	DOID:2843	long QT syndrome		ISO	RGD:1314293	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8813357	Tdrd6	tudor domain containing 6	gene	DOID:4362	cervical cancer		ISO	RGD:1314293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8813357	Tdrd6	tudor domain containing 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8813357	Tdrd6	tudor domain containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1314293	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1344203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27694961
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:0051061	stroke		ISO	RGD:735047	D	RGD:9068941	20200609	RGD			PMID:22417925|REF_RGD_ID:6893327
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1344203	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:0061270	periventricular nodular heterotopia 7		ISO	RGD:1344203	D	RGD:7240710	20190315	OMIM			
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:0061270	periventricular nodular heterotopia 7		ISO	RGD:1344203	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay	PMID:25741868|PMID:27694961|PMID:28492532|PMID:28515470|PMID:32117442|PMID:32238909
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:1059	intellectual disability		ISO	RGD:1344203	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:27694961|PMID:28492532|PMID:32117442
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:10763	hypertension		ISO	RGD:1344203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18524855|PMID:23348737
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:10892	hypospadias		ISO	RGD:1551161	D	RGD:9068941	20230302	RGD		protein:decreased expression:urethra	PMID:32413360|REF_RGD_ID:156431051
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:1115	sarcoma		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:11193	syndactyly		ISO	RGD:1344203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27694961
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1344203	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:28701297
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:1324	lung cancer		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:1826	epilepsy		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:27694961|PMID:28492532
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:2030	anxiety disorder		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:27694961|PMID:28492532
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:16199547|PMID:28492532
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:289	endometriosis		ISO	RGD:1344203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:3275	thymoma		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:4362	cervical cancer		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:5041	esophageal cancer		ISO	RGD:1344203	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:630	genetic disease		ISO	RGD:1344203	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:674	cleft palate		ISO	RGD:1344203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27694961
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:27694961|PMID:28492532|PMID:28515470
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344203	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:27694961|PMID:28492532
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:9008582	Developmental Disease		ISO	RGD:1344203	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8813366	Nedd4l	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8813425	Matn4	matrilin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8813425	Matn4	matrilin 4	gene	DOID:10907	microcephaly		ISO	RGD:1320229	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	
8813425	Matn4	matrilin 4	gene	DOID:1324	lung cancer		ISO	RGD:1320229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8813425	Matn4	matrilin 4	gene	DOID:1826	epilepsy		ISO	RGD:1320229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25558065
8813425	Matn4	matrilin 4	gene	DOID:1826	epilepsy		ISO	RGD:1320229	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epilepsy	
8813425	Matn4	matrilin 4	gene	DOID:4621	holoprosencephaly		ISO	RGD:1320229	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly | ClinVar Annotator: match by term: Holoprosencephaly sequence	
8813425	Matn4	matrilin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813425	Matn4	matrilin 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1320229	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
8813425	Matn4	matrilin 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320229	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8813425	Matn4	matrilin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8813425	Matn4	matrilin 4	gene	DOID:930	orbital disease		ISO	RGD:1320229	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Proptosis	
8813425	Matn4	matrilin 4	gene	DOID:9409	diabetes insipidus		ISO	RGD:1320229	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	
8813446	Hmox1	heme oxygenase 1	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:730901	D	RGD:9068941	20200609	RGD			PMID:17511582|REF_RGD_ID:4145404
8813446	Hmox1	heme oxygenase 1	gene	DOID:0050852	limb ischemia		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:12593860|REF_RGD_ID:1598394
8813446	Hmox1	heme oxygenase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8813446	Hmox1	heme oxygenase 1	gene	DOID:0050967	spinocerebellar ataxia 17		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413982
8813446	Hmox1	heme oxygenase 1	gene	DOID:0051061	stroke		ISO	RGD:730901	D	RGD:9068941	20200609	RGD			PMID:14753445|REF_RGD_ID:1598410
8813446	Hmox1	heme oxygenase 1	gene	DOID:0060180	colitis		ISO	RGD:2806	D	RGD:9068941	20200609	RGD		protein:increased expression:colon:	PMID:22261574|REF_RGD_ID:7207796
8813446	Hmox1	heme oxygenase 1	gene	DOID:0060180	colitis		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16365149|PMID:21444764
8813446	Hmox1	heme oxygenase 1	gene	DOID:0060180	colitis	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:21853095|REF_RGD_ID:10766442
8813446	Hmox1	heme oxygenase 1	gene	DOID:0060903	thrombosis		ISO	RGD:10717	D	RGD:9068941	20200609	RGD			PMID:15242554|REF_RGD_ID:1598405
8813446	Hmox1	heme oxygenase 1	gene	DOID:0060903	thrombosis		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19168058
8813446	Hmox1	heme oxygenase 1	gene	DOID:0080177	hepatic veno-occlusive disease		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:19387321|REF_RGD_ID:4145318
8813446	Hmox1	heme oxygenase 1	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:24169105|REF_RGD_ID:10755712
8813446	Hmox1	heme oxygenase 1	gene	DOID:10322	berylliosis		ISO	RGD:730901	D	RGD:9068941	20200609	RGD		protein:increased activity:sputum	PMID:19453654|REF_RGD_ID:4145349
8813446	Hmox1	heme oxygenase 1	gene	DOID:10325	silicosis		ISO	RGD:10717	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, lung	PMID:16858012|REF_RGD_ID:4145384
8813446	Hmox1	heme oxygenase 1	gene	DOID:10325	silicosis		ISO	RGD:730901	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, lung	PMID:16858012|REF_RGD_ID:4145384
8813446	Hmox1	heme oxygenase 1	gene	DOID:10533	viral pneumonia		ISO	RGD:10717	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:8843786|REF_RGD_ID:4145417
8813446	Hmox1	heme oxygenase 1	gene	DOID:10588	adrenoleukodystrophy		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16319717
8813446	Hmox1	heme oxygenase 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22197494
8813446	Hmox1	heme oxygenase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11144356
8813446	Hmox1	heme oxygenase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:730901	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus, temporal cortex (human)	PMID:7778849|REF_RGD_ID:1358658
8813446	Hmox1	heme oxygenase 1	gene	DOID:1073	renal hypertension		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:16316349|REF_RGD_ID:1582711
8813446	Hmox1	heme oxygenase 1	gene	DOID:10762	portal hypertension		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:16830363|REF_RGD_ID:1582701
8813446	Hmox1	heme oxygenase 1	gene	DOID:10763	hypertension		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:12215473|REF_RGD_ID:1580453
8813446	Hmox1	heme oxygenase 1	gene	DOID:10763	hypertension		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:16959961|PMID:22349312|PMID:22352330
8813446	Hmox1	heme oxygenase 1	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:730901	D	RGD:9068941	20200609	RGD			PMID:12872043|REF_RGD_ID:1598400
8813446	Hmox1	heme oxygenase 1	gene	DOID:10763	hypertension	treatment	ISO	RGD:730901	D	RGD:9068941	20200609	RGD			PMID:20836698|REF_RGD_ID:10755717
8813446	Hmox1	heme oxygenase 1	gene	DOID:10923	sickle cell anemia		ISO	RGD:10717	D	RGD:9068941	20200609	RGD			PMID:11238038|REF_RGD_ID:10755563
8813446	Hmox1	heme oxygenase 1	gene	DOID:10923	sickle cell anemia		ISO	RGD:730901	D	RGD:9068941	20200609	RGD			PMID:11238038|REF_RGD_ID:10755563
8813446	Hmox1	heme oxygenase 1	gene	DOID:10923	sickle cell anemia	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:20306336|REF_RGD_ID:10755565
8813446	Hmox1	heme oxygenase 1	gene	DOID:11123	IgA vasculitis		ISO	RGD:730901	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20013271|REF_RGD_ID:10755701
8813446	Hmox1	heme oxygenase 1	gene	DOID:11394	adult respiratory distress syndrome	susceptibility	ISO	RGD:730901	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter	PMID:19526221|REF_RGD_ID:4145346
8813446	Hmox1	heme oxygenase 1	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:23224421|REF_RGD_ID:10755722
8813446	Hmox1	heme oxygenase 1	gene	DOID:11713	diabetic angiopathy		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16959961
8813446	Hmox1	heme oxygenase 1	gene	DOID:11823	hepatorenal syndrome		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21253390
8813446	Hmox1	heme oxygenase 1	gene	DOID:11914	gastroparesis		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20378827
8813446	Hmox1	heme oxygenase 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:2806	D	RGD:9068941	20230831	RGD		protein:increased activity:heart (rat)	PMID:19889059|REF_RGD_ID:401794453
8813446	Hmox1	heme oxygenase 1	gene	DOID:12134	factor VIII deficiency	treatment	ISO	RGD:730901	D	RGD:9068941	20200609	RGD		DNA:repeat:promoter	PMID:23716558|REF_RGD_ID:10755564
8813446	Hmox1	heme oxygenase 1	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:2806	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver, lung	PMID:12114196|REF_RGD_ID:625603
8813446	Hmox1	heme oxygenase 1	gene	DOID:12337	varicocele	severity	ISO	RGD:730901	D	RGD:9068941	20200609	RGD			PMID:15878918|REF_RGD_ID:1598403
8813446	Hmox1	heme oxygenase 1	gene	DOID:12365	malaria		ISO	RGD:10717	D	RGD:9068941	20220825	MouseDO		OMIM:609148 | OMIM:611162	
8813446	Hmox1	heme oxygenase 1	gene	DOID:1247	blood coagulation disease		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9884342
8813446	Hmox1	heme oxygenase 1	gene	DOID:12510	retinal ischemia	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:23537149|REF_RGD_ID:10755711
8813446	Hmox1	heme oxygenase 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:730901	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood cells	PMID:18301921|REF_RGD_ID:4145353
8813446	Hmox1	heme oxygenase 1	gene	DOID:1289	neurodegenerative disease		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10942521|PMID:12709579|PMID:15964507
8813446	Hmox1	heme oxygenase 1	gene	DOID:12894	Sjogren's syndrome	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:24941846|REF_RGD_ID:10450595
8813446	Hmox1	heme oxygenase 1	gene	DOID:13100	intracranial vasospasm		ISO	RGD:2806	D	RGD:9068941	20200609	RGD		associated with Subarachnoid Hemorrhage	PMID:19686725|REF_RGD_ID:4145300
8813446	Hmox1	heme oxygenase 1	gene	DOID:13100	intracranial vasospasm		ISO	RGD:730901	D	RGD:9068941	20200609	RGD			PMID:14657544|REF_RGD_ID:1598406
8813446	Hmox1	heme oxygenase 1	gene	DOID:13100	intracranial vasospasm	treatment	ISO	RGD:730901	D	RGD:9068941	20200609	RGD		associated with Subarachnoid Hemorrhage	PMID:21654696|REF_RGD_ID:10755572
8813446	Hmox1	heme oxygenase 1	gene	DOID:13241	Behcet's disease		ISO	RGD:730901	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:mononulcear cell:	PMID:18234118|REF_RGD_ID:7777175
8813446	Hmox1	heme oxygenase 1	gene	DOID:13378	Kawasaki disease	no_association	ISO	RGD:730901	D	RGD:9068941	20200609	RGD			PMID:14521259|REF_RGD_ID:1598409
8813446	Hmox1	heme oxygenase 1	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:730901	D	RGD:9068941	20200609	RGD		protein:increased activity:sputum	PMID:19453654|REF_RGD_ID:4145349
8813446	Hmox1	heme oxygenase 1	gene	DOID:13413	hepatic encephalopathy	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:23670786|REF_RGD_ID:10766445
8813446	Hmox1	heme oxygenase 1	gene	DOID:14115	toxic shock syndrome		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:18208666|REF_RGD_ID:4145362
8813446	Hmox1	heme oxygenase 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21318773
8813446	Hmox1	heme oxygenase 1	gene	DOID:1485	cystic fibrosis		ISO	RGD:730901	D	RGD:9068941	20200609	RGD		mRNA:protein:increased expression:lung	PMID:15184199|REF_RGD_ID:4145410
8813446	Hmox1	heme oxygenase 1	gene	DOID:1584	acute chest syndrome		ISO	RGD:730901	D	RGD:9068941	20200609	RGD		associated with Anemia, Sickle Cell;DNA:repeat:promoter	PMID:22966170|REF_RGD_ID:10755560
8813446	Hmox1	heme oxygenase 1	gene	DOID:1673	pneumothorax		ISO	RGD:730901	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:20526373|REF_RGD_ID:4145332
8813446	Hmox1	heme oxygenase 1	gene	DOID:1824	status epilepticus		ISO	RGD:2806	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex (rat)	PMID:20971094|REF_RGD_ID:4145131
8813446	Hmox1	heme oxygenase 1	gene	DOID:1824	status epilepticus		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20971094
8813446	Hmox1	heme oxygenase 1	gene	DOID:2018	hyperinsulinism		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19171794
8813446	Hmox1	heme oxygenase 1	gene	DOID:2237	hepatitis		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:14512878
8813446	Hmox1	heme oxygenase 1	gene	DOID:2316	brain ischemia		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:16464361|PMID:21276833|REF_RGD_ID:10755576|REF_RGD_ID:1582709
8813446	Hmox1	heme oxygenase 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:10717	D	RGD:9068941	20200609	RGD			PMID:12958201|REF_RGD_ID:1598395
8813446	Hmox1	heme oxygenase 1	gene	DOID:2351	iron metabolism disease		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9884342
8813446	Hmox1	heme oxygenase 1	gene	DOID:2352	hemochromatosis		ISO	RGD:10717	D	RGD:9068941	20220825	MouseDO		OMIM:231100	
8813446	Hmox1	heme oxygenase 1	gene	DOID:26	pancreas disease		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18784349
8813446	Hmox1	heme oxygenase 1	gene	DOID:2773	contact dermatitis		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
8813446	Hmox1	heme oxygenase 1	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:10717	D	RGD:9068941	20200609	RGD			PMID:12973103|REF_RGD_ID:4145412
8813446	Hmox1	heme oxygenase 1	gene	DOID:2841	asthma		ISO	RGD:10717	D	RGD:9068941	20200609	RGD			PMID:20596599|REF_RGD_ID:4145403
8813446	Hmox1	heme oxygenase 1	gene	DOID:2841	asthma		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18048809
8813446	Hmox1	heme oxygenase 1	gene	DOID:2841	asthma	severity	ISO	RGD:730901	D	RGD:9068941	20200609	RGD		mRNA;protein:increased expression:Leukocytes, Mononuclear	PMID:16196283|REF_RGD_ID:4145408
8813446	Hmox1	heme oxygenase 1	gene	DOID:299	adenocarcinoma	susceptibility	ISO	RGD:730901	D	RGD:9068941	20200609	RGD		Lung Adenocarcinoma; DNA:allele:promoter:L allele of the (GT)n repeat (>30 repeats)	PMID:15688187|REF_RGD_ID:1601607
8813446	Hmox1	heme oxygenase 1	gene	DOID:3021	acute kidney failure		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21048024
8813446	Hmox1	heme oxygenase 1	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD		associated with Sepsis	PMID:23807243|REF_RGD_ID:10755583
8813446	Hmox1	heme oxygenase 1	gene	DOID:3082	interstitial lung disease		ISO	RGD:730901	D	RGD:9068941	20200609	RGD		Idiopathic Interstitial Pneumonias;protein:increased expression:lung	PMID:11727267|REF_RGD_ID:4145416
8813446	Hmox1	heme oxygenase 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:730901	D	RGD:7240710	20260715	OMIM			
8813446	Hmox1	heme oxygenase 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:730901	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Chronic obstructive pulmonary disease | ClinVar Annotator: match by term: HMOX1-related condition	PMID:21088618|PMID:25741868|PMID:28492532|PMID:9884342
8813446	Hmox1	heme oxygenase 1	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:730901	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter	PMID:17254481|REF_RGD_ID:4145371
8813446	Hmox1	heme oxygenase 1	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:730901	D	RGD:9068941	20260716	RGD		DNA:polymorphism:promoter	PMID:17203192|REF_RGD_ID:4145372
8813446	Hmox1	heme oxygenase 1	gene	DOID:3083	chronic obstructive pulmonary disease	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:20705587|REF_RGD_ID:10755705
8813446	Hmox1	heme oxygenase 1	gene	DOID:326	ischemia		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15036356|PMID:19667931
8813446	Hmox1	heme oxygenase 1	gene	DOID:3275	thymoma		ISO	RGD:730901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8813446	Hmox1	heme oxygenase 1	gene	DOID:3393	coronary artery disease		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12136229
8813446	Hmox1	heme oxygenase 1	gene	DOID:3393	coronary artery disease		ISO	RGD:730901	D	RGD:9068941	20200609	RGD			PMID:12377749|REF_RGD_ID:1580454
8813446	Hmox1	heme oxygenase 1	gene	DOID:3393	coronary artery disease	no_association	ISO	RGD:730901	D	RGD:9068941	20200609	RGD		DNA:repeat:promoter	PMID:14691581|REF_RGD_ID:1580470
8813446	Hmox1	heme oxygenase 1	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:730901	D	RGD:9068941	20200609	RGD			PMID:12136229|REF_RGD_ID:1598401
8813446	Hmox1	heme oxygenase 1	gene	DOID:3407	carotid artery disease		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17095719
8813446	Hmox1	heme oxygenase 1	gene	DOID:3410	carotid artery thrombosis	treatment	ISO	RGD:10717	D	RGD:9068941	20200609	RGD		associated with Anemia, Sickle Cell	PMID:23590132|REF_RGD_ID:10755698
8813446	Hmox1	heme oxygenase 1	gene	DOID:349	systemic mastocytosis		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17420286
8813446	Hmox1	heme oxygenase 1	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:23870531|PMID:24252362|REF_RGD_ID:10755587|REF_RGD_ID:10755755
8813446	Hmox1	heme oxygenase 1	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:730901	D	RGD:9068941	20200609	RGD			PMID:20888632|REF_RGD_ID:10755588
8813446	Hmox1	heme oxygenase 1	gene	DOID:3526	cerebral infarction		ISO	RGD:10717	D	RGD:9068941	20200609	RGD			PMID:23311871|REF_RGD_ID:10755574
8813446	Hmox1	heme oxygenase 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15814490
8813446	Hmox1	heme oxygenase 1	gene	DOID:3933	anterior compartment syndrome		ISO	RGD:730901	D	RGD:9068941	20250508	CTD		CTD Direct Evidence: marker/mechanism	PMID:36193742
8813446	Hmox1	heme oxygenase 1	gene	DOID:409	liver disease		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:16964402|PMID:17002867|PMID:17275847
8813446	Hmox1	heme oxygenase 1	gene	DOID:4247	coronary restenosis	susceptibility	ISO	RGD:730901	D	RGD:9068941	20200609	RGD			PMID:16020495|REF_RGD_ID:1598402
8813446	Hmox1	heme oxygenase 1	gene	DOID:4481	allergic rhinitis		ISO	RGD:730901	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36127783
8813446	Hmox1	heme oxygenase 1	gene	DOID:4724	brain edema		ISO	RGD:2806	D	RGD:9068941	20200609	RGD		associated with Cerebral Hemorrhage;mRNA, protein:increased expression:brain	PMID:23438812|REF_RGD_ID:10766444
8813446	Hmox1	heme oxygenase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:2806	D	RGD:9068941	20200609	RGD		protein:increased expression:esophagus	PMID:20498946|REF_RGD_ID:4145286
8813446	Hmox1	heme oxygenase 1	gene	DOID:5453	pulmonary venoocclusive disease		ISO	RGD:2806	D	RGD:9068941	20200903	RGD		protein:increased expression:lung	PMID:32209028|REF_RGD_ID:38549370
8813446	Hmox1	heme oxygenase 1	gene	DOID:5453	pulmonary venoocclusive disease		ISO	RGD:730901	D	RGD:9068941	20200903	RGD		protein:increased expression:lung, endothelial cell	PMID:32209028|REF_RGD_ID:38549370
8813446	Hmox1	heme oxygenase 1	gene	DOID:552	pneumonia		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16582079
8813446	Hmox1	heme oxygenase 1	gene	DOID:552	pneumonia	susceptibility	ISO	RGD:730901	D	RGD:9068941	20200609	RGD		DNA:allele:promoter:L allele of the (GT)n repeat (>30 repeats)	PMID:16582079|REF_RGD_ID:1601608
8813446	Hmox1	heme oxygenase 1	gene	DOID:5679	retinal disease		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23075401
8813446	Hmox1	heme oxygenase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813446	Hmox1	heme oxygenase 1	gene	DOID:583	hemolytic anemia		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9884342
8813446	Hmox1	heme oxygenase 1	gene	DOID:5844	myocardial infarction		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:12392996|PMID:20925964|REF_RGD_ID:1598393|REF_RGD_ID:4145134
8813446	Hmox1	heme oxygenase 1	gene	DOID:6000	congestive heart failure		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22352330
8813446	Hmox1	heme oxygenase 1	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:23592614|REF_RGD_ID:10755584
8813446	Hmox1	heme oxygenase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:730901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8813446	Hmox1	heme oxygenase 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:10717	D	RGD:9068941	20200609	RGD			PMID:20957739|REF_RGD_ID:4145325
8813446	Hmox1	heme oxygenase 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:14970910|PMID:19409105|REF_RGD_ID:1582715|REF_RGD_ID:4145307
8813446	Hmox1	heme oxygenase 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:730901	D	RGD:9068941	20200609	RGD			PMID:20957739|REF_RGD_ID:4145325
8813446	Hmox1	heme oxygenase 1	gene	DOID:750	peptic ulcer disease		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:20610858|REF_RGD_ID:4145283
8813446	Hmox1	heme oxygenase 1	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:730901	D	RGD:9068941	20200609	RGD			PMID:12182912|REF_RGD_ID:1580455
8813446	Hmox1	heme oxygenase 1	gene	DOID:783	end stage renal disease		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22622455
8813446	Hmox1	heme oxygenase 1	gene	DOID:7998	hyperthyroidism	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:23623788|REF_RGD_ID:10755742
8813446	Hmox1	heme oxygenase 1	gene	DOID:8440	ileus	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD		associated with Sepsis	PMID:22921918|REF_RGD_ID:10755726
8813446	Hmox1	heme oxygenase 1	gene	DOID:850	lung disease		ISO	RGD:10717	D	RGD:9068941	20200609	RGD			PMID:17264168|REF_RGD_ID:4145370
8813446	Hmox1	heme oxygenase 1	gene	DOID:850	lung disease		ISO	RGD:10717	D	RGD:9068941	20200609	RGD		Acute Lung Injury	PMID:16309574|REF_RGD_ID:4143390
8813446	Hmox1	heme oxygenase 1	gene	DOID:850	lung disease		ISO	RGD:2806	D	RGD:9068941	20200609	RGD		Ventilator-Induced Lung Injury; protein:increased expression:lung	PMID:20663303|REF_RGD_ID:4140396
8813446	Hmox1	heme oxygenase 1	gene	DOID:850	lung disease		ISO	RGD:2806	D	RGD:9068941	20200609	RGD		acute lung injury	PMID:19024100|PMID:20638132|REF_RGD_ID:4145327|REF_RGD_ID:4145350
8813446	Hmox1	heme oxygenase 1	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:10717	D	RGD:9068941	20200609	RGD			PMID:22139798|REF_RGD_ID:10755566
8813446	Hmox1	heme oxygenase 1	gene	DOID:8927	learning disability		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11718997
8813446	Hmox1	heme oxygenase 1	gene	DOID:900	hepatopulmonary syndrome		ISO	RGD:2806	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:21518603|REF_RGD_ID:10755724
8813446	Hmox1	heme oxygenase 1	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:23943397|REF_RGD_ID:10766443
8813446	Hmox1	heme oxygenase 1	gene	DOID:9000184	Ventricular Fibrillation		ISO	RGD:10717	D	RGD:9068941	20200609	RGD			PMID:12958158|REF_RGD_ID:1598396
8813446	Hmox1	heme oxygenase 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14647439|PMID:22490514
8813446	Hmox1	heme oxygenase 1	gene	DOID:9000310	Lung Injury		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17365036
8813446	Hmox1	heme oxygenase 1	gene	DOID:9000352	Vascular System Injuries		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19234301
8813446	Hmox1	heme oxygenase 1	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:16543643|REF_RGD_ID:1582702
8813446	Hmox1	heme oxygenase 1	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:2806	D	RGD:9068941	20200609	RGD		mRNA:increased expression:subarachnoid space	PMID:19686725|REF_RGD_ID:4145300
8813446	Hmox1	heme oxygenase 1	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:730901	D	RGD:9068941	20200609	RGD			PMID:14657544|REF_RGD_ID:1598406
8813446	Hmox1	heme oxygenase 1	gene	DOID:9000528	Coronary Disease		ISO	RGD:730901	D	RGD:9068941	20200609	RGD			PMID:15869055|REF_RGD_ID:1598404
8813446	Hmox1	heme oxygenase 1	gene	DOID:9000774	Brain Death		ISO	RGD:2806	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney	PMID:23356498|REF_RGD_ID:10755728
8813446	Hmox1	heme oxygenase 1	gene	DOID:9000774	Brain Death	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:20819234|REF_RGD_ID:10766439
8813446	Hmox1	heme oxygenase 1	gene	DOID:9000784	Fibrosis		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18784349
8813446	Hmox1	heme oxygenase 1	gene	DOID:9000855	Experimental Radiation Injuries	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:22247972|REF_RGD_ID:10755582
8813446	Hmox1	heme oxygenase 1	gene	DOID:9000884	Rhabdomyolysis	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:21726176|REF_RGD_ID:10766438
8813446	Hmox1	heme oxygenase 1	gene	DOID:9000972	Fever		ISO	RGD:2806	D	RGD:9068941	20200609	RGD		protein:increased expression:glial cell	PMID:12834255|REF_RGD_ID:1304397
8813446	Hmox1	heme oxygenase 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:23470432|REF_RGD_ID:10755702
8813446	Hmox1	heme oxygenase 1	gene	DOID:9001390	Testis Reperfusion Injury	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:23142244|REF_RGD_ID:10755740
8813446	Hmox1	heme oxygenase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:19554654|REF_RGD_ID:4145305
8813446	Hmox1	heme oxygenase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:16025519|PMID:16610050|PMID:21163135|PMID:25380136
8813446	Hmox1	heme oxygenase 1	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12649161
8813446	Hmox1	heme oxygenase 1	gene	DOID:9001614	Chronic Tubulointerstitial Nephropathy		ISO	RGD:10717	D	RGD:9068941	20200609	RGD			PMID:11135063|REF_RGD_ID:10755562
8813446	Hmox1	heme oxygenase 1	gene	DOID:9001627	Pathologic Constriction		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:20022212|REF_RGD_ID:4145296
8813446	Hmox1	heme oxygenase 1	gene	DOID:9001650	Pregnancy-Induced Hypertension	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:21383306|REF_RGD_ID:10755723
8813446	Hmox1	heme oxygenase 1	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:20514418|REF_RGD_ID:10755719
8813446	Hmox1	heme oxygenase 1	gene	DOID:9001708	Hemorrhagic Shock	severity	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:20819606|REF_RGD_ID:10755727
8813446	Hmox1	heme oxygenase 1	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:2806	D	RGD:9068941	20200609	RGD		associated with Glaucoma	PMID:20357190|REF_RGD_ID:4145289
8813446	Hmox1	heme oxygenase 1	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:10717	D	RGD:9068941	20200609	RGD		associated with influenza;protein:increased expression:lung	PMID:17348295|REF_RGD_ID:4145366
8813446	Hmox1	heme oxygenase 1	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:20446775|REF_RGD_ID:10755725
8813446	Hmox1	heme oxygenase 1	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21849637|REF_RGD_ID:10755581
8813446	Hmox1	heme oxygenase 1	gene	DOID:9002221	Hyperplasia		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19234301
8813446	Hmox1	heme oxygenase 1	gene	DOID:9002254	Dilatation, Pathologic		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:15057912|REF_RGD_ID:1580452
8813446	Hmox1	heme oxygenase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25246272
8813446	Hmox1	heme oxygenase 1	gene	DOID:9002473	Blast Crisis		ISO	RGD:730901	D	RGD:9068941	20200609	RGD			PMID:22139798|REF_RGD_ID:10755566
8813446	Hmox1	heme oxygenase 1	gene	DOID:9002514	Neointima	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:21804207|REF_RGD_ID:10755571
8813446	Hmox1	heme oxygenase 1	gene	DOID:9002532	Neonatal Hyperbilirubinemia		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:19646271|REF_RGD_ID:4145302
8813446	Hmox1	heme oxygenase 1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12401953
8813446	Hmox1	heme oxygenase 1	gene	DOID:9003230	Graft Occlusion, Vascular		ISO	RGD:10717	D	RGD:9068941	20200609	RGD			PMID:12958201|REF_RGD_ID:1598395
8813446	Hmox1	heme oxygenase 1	gene	DOID:9003420	Carbon Monoxide Poisoning		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:19520142|PMID:20422170|REF_RGD_ID:4145288|REF_RGD_ID:4145306
8813446	Hmox1	heme oxygenase 1	gene	DOID:9003603	Hemolysis		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25247420
8813446	Hmox1	heme oxygenase 1	gene	DOID:9003657	Perennial Allergic Rhinitis		ISO	RGD:730901	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression: nasal mucosa	PMID:16540907|REF_RGD_ID:4145406
8813446	Hmox1	heme oxygenase 1	gene	DOID:9003676	Brain Hypoxia-Ischemia	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:25447631|REF_RGD_ID:10766440
8813446	Hmox1	heme oxygenase 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15226216
8813446	Hmox1	heme oxygenase 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:12919086|PMID:16699460|REF_RGD_ID:1582708|REF_RGD_ID:4145514
8813446	Hmox1	heme oxygenase 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2806	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, Bronchoalveolar Lavage Fluid	PMID:19885035|REF_RGD_ID:4145338
8813446	Hmox1	heme oxygenase 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:730901	D	RGD:9068941	20250508	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:12352873|PMID:16982915|PMID:17660127|PMID:23075401|PMID:25780291
8813446	Hmox1	heme oxygenase 1	gene	DOID:9004237	Hyperoxic Lung Injury	treatment	ISO	RGD:10717	D	RGD:9068941	20200609	RGD			PMID:23475767|REF_RGD_ID:10755753
8813446	Hmox1	heme oxygenase 1	gene	DOID:9004237	Hyperoxic Lung Injury	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:23475767|REF_RGD_ID:10755753
8813446	Hmox1	heme oxygenase 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24211270
8813446	Hmox1	heme oxygenase 1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:2806	D	RGD:9068941	20200609	RGD		associated with Reperfusion Injury	PMID:20850789|REF_RGD_ID:4145326
8813446	Hmox1	heme oxygenase 1	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:20360627|REF_RGD_ID:4140418
8813446	Hmox1	heme oxygenase 1	gene	DOID:9004786	Carbon Tetrachloride Poisoning		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:24748974|REF_RGD_ID:10755718
8813446	Hmox1	heme oxygenase 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:730901	D	RGD:9068941	20231005	CTD		CTD Direct Evidence: marker/mechanism	PMID:15688187|PMID:18508827|PMID:31227482
8813446	Hmox1	heme oxygenase 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16319139
8813446	Hmox1	heme oxygenase 1	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:23215791|REF_RGD_ID:10755708
8813446	Hmox1	heme oxygenase 1	gene	DOID:9005372	Inflammation		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12649161|PMID:16982915|PMID:23451061|PMID:29086419
8813446	Hmox1	heme oxygenase 1	gene	DOID:9005526	Pulmonary Edema of Mountaineers		ISO	RGD:2806	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:21296072|REF_RGD_ID:10755745
8813446	Hmox1	heme oxygenase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:15734859|REF_RGD_ID:1582713
8813446	Hmox1	heme oxygenase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:16123366|PMID:16959961|PMID:18375438|PMID:19804535
8813446	Hmox1	heme oxygenase 1	gene	DOID:9005785	Altitude Sickness		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:23537263|REF_RGD_ID:10755714
8813446	Hmox1	heme oxygenase 1	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:21396999|REF_RGD_ID:10755715
8813446	Hmox1	heme oxygenase 1	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:10717	D	RGD:9068941	20200609	RGD			PMID:12230867|REF_RGD_ID:1598397
8813446	Hmox1	heme oxygenase 1	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:730901	D	RGD:9068941	20200609	RGD			PMID:14587309|REF_RGD_ID:1598408
8813446	Hmox1	heme oxygenase 1	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:21291499|REF_RGD_ID:10755580
8813446	Hmox1	heme oxygenase 1	gene	DOID:9006257	Growth Disorders		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9884342
8813446	Hmox1	heme oxygenase 1	gene	DOID:9006646	Metabolic Syndrome	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:22193921|REF_RGD_ID:10763276
8813446	Hmox1	heme oxygenase 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18227147
8813446	Hmox1	heme oxygenase 1	gene	DOID:9006827	Lung Reperfusion Injury		ISO	RGD:2806	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:21227458|REF_RGD_ID:10755577
8813446	Hmox1	heme oxygenase 1	gene	DOID:9006945	Diabetic Cardiomyopathies	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:23453443|PMID:23853776|REF_RGD_ID:10412713|REF_RGD_ID:9586347
8813446	Hmox1	heme oxygenase 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:15734859|REF_RGD_ID:1582713
8813446	Hmox1	heme oxygenase 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8813446	Hmox1	heme oxygenase 1	gene	DOID:9007102	Myocardial Ischemia	susceptibility	ISO	RGD:730901	D	RGD:9068941	20200609	RGD			PMID:15064108|REF_RGD_ID:1598399
8813446	Hmox1	heme oxygenase 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17002867
8813446	Hmox1	heme oxygenase 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:18227147|PMID:22688006
8813446	Hmox1	heme oxygenase 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:10717	D	RGD:9068941	20200609	RGD			PMID:29091898|REF_RGD_ID:15090820
8813446	Hmox1	heme oxygenase 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:22886620|PMID:29091898|REF_RGD_ID:10762620|REF_RGD_ID:15090820
8813446	Hmox1	heme oxygenase 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:18375438|PMID:19171794
8813446	Hmox1	heme oxygenase 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:730901	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:muscle:defective protection against oxidative stress	PMID:12941774|REF_RGD_ID:1601621
8813446	Hmox1	heme oxygenase 1	gene	DOID:9007755	Intestinal Reperfusion Injury	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:19362701|REF_RGD_ID:10766423
8813446	Hmox1	heme oxygenase 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:12709584|REF_RGD_ID:1598392
8813446	Hmox1	heme oxygenase 1	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD			PMID:22179023|REF_RGD_ID:10755573
8813446	Hmox1	heme oxygenase 1	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:730901	D	RGD:9068941	20200609	RGD			PMID:23921302|REF_RGD_ID:10755585
8813446	Hmox1	heme oxygenase 1	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:730901	D	RGD:9068941	20200609	RGD			PMID:16100019|REF_RGD_ID:1598398
8813446	Hmox1	heme oxygenase 1	gene	DOID:9008173	Paraparesis	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD		associated with Lathyrism	PMID:23068093|REF_RGD_ID:10766441
8813446	Hmox1	heme oxygenase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037
8813446	Hmox1	heme oxygenase 1	gene	DOID:9008996	Heme Oxygenase 1 Deficiency		ISO	RGD:730901	D	RGD:7240710	20260715	OMIM			
8813446	Hmox1	heme oxygenase 1	gene	DOID:9008996	Heme Oxygenase 1 Deficiency		ISO	RGD:730901	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEME OXYGENASE 1 DEFICIENCY | ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Heme oxygenase 1 deficiency	PMID:16199547|PMID:21088618|PMID:25741868|PMID:28492532|PMID:32587840|PMID:33066778|PMID:9884342
8813446	Hmox1	heme oxygenase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2806	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain, spleen	PMID:19268504|REF_RGD_ID:10755700
8813446	Hmox1	heme oxygenase 1	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22461696
8813446	Hmox1	heme oxygenase 1	gene	DOID:9146	visceral leishmaniasis	treatment	ISO	RGD:730901	D	RGD:9068941	20210312	RGD			PMID:23729024|REF_RGD_ID:42724459
8813446	Hmox1	heme oxygenase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:12136229|PMID:16123366|PMID:16959961
8813446	Hmox1	heme oxygenase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730901	D	RGD:9068941	20200609	RGD		DNA:repeat:promoter	PMID:17991645|REF_RGD_ID:10755699
8813446	Hmox1	heme oxygenase 1	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:2806	D	RGD:9068941	20200609	RGD		associated with Obesity	PMID:23731386|REF_RGD_ID:8695927
8813446	Hmox1	heme oxygenase 1	gene	DOID:9675	pulmonary emphysema		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10631150
8813446	Hmox1	heme oxygenase 1	gene	DOID:9675	pulmonary emphysema	susceptibility	ISO	RGD:730901	D	RGD:9068941	20200609	RGD		DNA:allele:promoter:L allele of the (GT)n repeat (>30 repeats)	PMID:10631150|REF_RGD_ID:1601606
8813446	Hmox1	heme oxygenase 1	gene	DOID:9970	obesity		ISO	RGD:730901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18334666|PMID:18375438|PMID:19171794
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:0050542	Charcot-Marie-Tooth disease type X		ISO	RGD:731380	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X	PMID:25640679|PMID:28492532
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:731381	D	RGD:9068941	20220825	MouseDO		OMIM:252010	
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:0110212	Charcot-Marie-Tooth disease X-linked recessive 4		ISO	RGD:731380	D	RGD:7240710	20180130	OMIM			
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:0110429	dilated cardiomyopathy 1H		ISO	RGD:731380	D	RGD:9068941	20200609	RGD		mRNA:increased expression:left ventricle:	PMID:19332114|REF_RGD_ID:10053590
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:0111502	combined oxidative phosphorylation deficiency 6		ISO	RGD:731380	D	RGD:7240710	20180130	OMIM			
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:0111741	X-linked deafness 5		ISO	RGD:731380	D	RGD:7240710	20180130	OMIM			
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:10283	prostate cancer		ISO	RGD:731380	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:28492532
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:10584	retinitis pigmentosa	treatment	ISO	RGD:620817	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus:	PMID:23951212|REF_RGD_ID:10053563
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731380	D	RGD:9068941	20200609	RGD		protein:increased expression:basal forebrain,amygdala:	PMID:22536549|REF_RGD_ID:10053593
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731381	D	RGD:9068941	20200609	RGD		protein:increased expression:cortex,nucleus:	PMID:24915960|REF_RGD_ID:10053592
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:12858	Huntington's disease		ISO	RGD:731380	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12930891
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:620817	D	RGD:9068941	20200609	RGD		mRNA:decreased expression, altered localization:CA1 pyramidal layer, nucleus:	PMID:14526224|REF_RGD_ID:10047409
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:731381	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus:	PMID:15087715|REF_RGD_ID:10053562
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:620817	D	RGD:9068941	20200609	RGD		protein:altered localization: :	PMID:15181376|REF_RGD_ID:10047403
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:5327	retinal detachment		ISO	RGD:620817	D	RGD:9068941	20200609	RGD		protein:altered localization:photoreceptor,nucleus:	PMID:11290545|REF_RGD_ID:10047408
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:5327	retinal detachment		ISO	RGD:731380	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18497877
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:9000068	X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy		ISO	RGD:731380	D	RGD:7240710	20191211	OMIM			
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:620817	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus:	PMID:12091479|REF_RGD_ID:10053567
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:620817	D	RGD:9068941	20200609	RGD			PMID:28108258|REF_RGD_ID:13524865
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:620817	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus:	PMID:12871572|REF_RGD_ID:10053564
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:9004953	Diabetic Cystopathy		ISO	RGD:620817	D	RGD:9068941	20200609	RGD		protein:increased expression:nuclei:	PMID:20879002|REF_RGD_ID:10053565
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:731380	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23499715
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:9005749	Necrosis		ISO	RGD:731380	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16532269
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:731380	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25743375
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:620817	D	RGD:9068941	20200609	RGD		protein:decreased expression:mitochondrion:	PMID:23685150|REF_RGD_ID:10053560
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:731381	D	RGD:9068941	20200609	RGD			PMID:23685150|REF_RGD_ID:10053560
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:9008824	Sarcopenia	severity	ISO	RGD:620817	D	RGD:9068941	20200609	RGD		RNA:increased expression:plantaris muscle:	PMID:17029665|REF_RGD_ID:2325745
8813455	Aifm1	apoptosis inducing factor mitochondria associated 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:731380	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23499715
8813491	Uso1	USO1 vesicle transport factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8813491	Uso1	USO1 vesicle transport factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8813491	Uso1	USO1 vesicle transport factor	gene	DOID:10534	stomach cancer		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8813491	Uso1	USO1 vesicle transport factor	gene	DOID:1115	sarcoma		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8813491	Uso1	USO1 vesicle transport factor	gene	DOID:2394	ovarian cancer		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8813491	Uso1	USO1 vesicle transport factor	gene	DOID:3275	thymoma		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8813491	Uso1	USO1 vesicle transport factor	gene	DOID:37	skin disease		ISO	RGD:733099	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8813491	Uso1	USO1 vesicle transport factor	gene	DOID:4362	cervical cancer		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8813491	Uso1	USO1 vesicle transport factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8813491	Uso1	USO1 vesicle transport factor	gene	DOID:5041	esophageal cancer		ISO	RGD:733099	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8813491	Uso1	USO1 vesicle transport factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813491	Uso1	USO1 vesicle transport factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8813491	Uso1	USO1 vesicle transport factor	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733099	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8813491	Uso1	USO1 vesicle transport factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8813491	Uso1	USO1 vesicle transport factor	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:733099	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8813491	Uso1	USO1 vesicle transport factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8813518	Ess2	ess-2 spliceosome associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8813518	Ess2	ess-2 spliceosome associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8813518	Ess2	ess-2 spliceosome associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1317866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8813518	Ess2	ess-2 spliceosome associated protein	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1317866	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	
8813518	Ess2	ess-2 spliceosome associated protein	gene	DOID:1324	lung cancer		ISO	RGD:1317866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8813518	Ess2	ess-2 spliceosome associated protein	gene	DOID:1909	melanoma		ISO	RGD:1317866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8813518	Ess2	ess-2 spliceosome associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1317866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8813518	Ess2	ess-2 spliceosome associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8813518	Ess2	ess-2 spliceosome associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8813534	Polr3e	RNA polymerase III subunit E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8813534	Polr3e	RNA polymerase III subunit E	gene	DOID:10534	stomach cancer		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8813534	Polr3e	RNA polymerase III subunit E	gene	DOID:1324	lung cancer		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8813534	Polr3e	RNA polymerase III subunit E	gene	DOID:1909	melanoma		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8813534	Polr3e	RNA polymerase III subunit E	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8813534	Polr3e	RNA polymerase III subunit E	gene	DOID:3275	thymoma		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8813534	Polr3e	RNA polymerase III subunit E	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8813534	Polr3e	RNA polymerase III subunit E	gene	DOID:4362	cervical cancer		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8813534	Polr3e	RNA polymerase III subunit E	gene	DOID:5041	esophageal cancer		ISO	RGD:1317654	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8813534	Polr3e	RNA polymerase III subunit E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813534	Polr3e	RNA polymerase III subunit E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8813534	Polr3e	RNA polymerase III subunit E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8813534	Polr3e	RNA polymerase III subunit E	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:0050700	cardiomyopathy		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:0050742	nicotine dependence		ISO	RGD:735795	D	RGD:9068941	20250501	RGD		protein:increased expression: prefrontal cortex, striatum, hippocampus (mouse)	PMID:33242460|REF_RGD_ID:598154614
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:0060001	withdrawal disorder		ISO	RGD:733218	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18184829
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:735795	D	RGD:9068941	20220825	MouseDO			
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:0060260	ptosis		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:733218	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy	PMID:11062464|PMID:11104662|PMID:11906688|PMID:17576681|PMID:18414213|PMID:20736995|PMID:21703448|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:733218	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Familial sleep-related hypermotor epilepsy	PMID:11062464|PMID:11104662|PMID:11906688|PMID:16199547|PMID:17576681|PMID:17900292|PMID:18414213|PMID:18456869|PMID:19059498|PMID:19237585|PMID:20736995|PMID:21703448|PMID:22036597|PMID:22897520|PMID:25741868|PMID:26467025|PMID:26475232|PMID:27336596|PMID:28488083|PMID:28492532|PMID:37033539|PMID:9536098
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial sleep-related hypermotor epilepsy	PMID:16199547|PMID:17576681|PMID:28492532|PMID:34490615|PMID:9536098
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:0060684	autosomal dominant nocturnal frontal lobe epilepsy 3		ISO	RGD:733218	D	RGD:7240710	20180130	OMIM			
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:0060684	autosomal dominant nocturnal frontal lobe epilepsy 3		ISO	RGD:733218	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 3 | ClinVar Annotator: match by term: CHRNB2-related condition | ClinVar Annotator: match by term: EPILEPSY, NOCTURNAL FRONTAL LOBE, 3 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 3	PMID:11062464|PMID:11104662|PMID:11906688|PMID:17576681|PMID:17900292|PMID:18414213|PMID:18456869|PMID:19059498|PMID:19237585|PMID:20736995|PMID:21703448|PMID:22036597|PMID:22897520|PMID:25741868|PMID:26467025|PMID:26475232|PMID:27336596|PMID:28492532|PMID:9536098
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:0080855	Parkinsonism		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:1059	intellectual disability		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733218	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17192785
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:10907	microcephaly		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:733218	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21748252
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:735795	D	RGD:9068941	20220825	MouseDO		OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003	
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:11155	hypohidrosis		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:11162	respiratory failure		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:11175	enophthalmos		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enophthalmos	PMID:25741868|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:11830	myopia		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:12270	coloboma		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:12849	autistic disorder		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:1287	cardiovascular system disease		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:1826	epilepsy		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:1827	generalized epilepsy		ISO	RGD:733218	D	RGD:8554872	20240618	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868|PMID:26475232|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:1891	optic nerve disease		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:1969	cerebral palsy		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:2030	anxiety disorder		ISO	RGD:733218	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23419392
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:2841	asthma		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:3144	cutis laxa		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:3327	partial motor epilepsy		ISO	RGD:733218	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Focal clonic seizure	PMID:25741868
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:3331	frontal lobe epilepsy		ISO	RGD:733218	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14996991
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:480	movement disease		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:535	sleep disorder		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:630	genetic disease		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11906688|PMID:17576681|PMID:18414213|PMID:20736995|PMID:21703448|PMID:25741868|PMID:26467025|PMID:26475232|PMID:28488083|PMID:28492532|PMID:30034362|PMID:9536098
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9001276	Failure to Thrive		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9001510	Funnel Chest		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9001528	ARTERIAL DISSECTION		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arterial dissection	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9001581	Constipation		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9001733	Tinnitus		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9002395	Hypothermia		ISO	RGD:733218	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14982698
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:733218	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21715663
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9003133	Hypertelorism		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9003507	Premature Birth		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9003539	Hyperacusis		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9003816	Macrocephaly		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9004538	Hearing Loss		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9005077	Joint Instability		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9005372	Inflammation		ISO	RGD:733218	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20943775
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:733218	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22000980
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9007661	Dwarfism		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9007736	Vertigo		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9008023	Memory Disorders		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9008214	Genu Valgum		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:936	brain disease		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9834	hyperopia		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:26467025|PMID:28492532
8813589	Chrnb2	cholinergic receptor nicotinic beta 2 subunit	gene	DOID:9970	obesity		ISO	RGD:733218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:26467025|PMID:28492532
8813603	Lrfn3	leucine rich repeat and fibronectin type III domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8813603	Lrfn3	leucine rich repeat and fibronectin type III domain containing 3	gene	DOID:0080600	COVID-19		ISO	RGD:1313671	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8813603	Lrfn3	leucine rich repeat and fibronectin type III domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8813603	Lrfn3	leucine rich repeat and fibronectin type III domain containing 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8813603	Lrfn3	leucine rich repeat and fibronectin type III domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8813603	Lrfn3	leucine rich repeat and fibronectin type III domain containing 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1313671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8813610	Ehd4	EH domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8813610	Ehd4	EH domain containing 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8813610	Ehd4	EH domain containing 4	gene	DOID:1115	sarcoma		ISO	RGD:734140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8813610	Ehd4	EH domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:734140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8813610	Ehd4	EH domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:734140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8813610	Ehd4	EH domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8813619	Wdr81	WD repeat domain 81	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
8813619	Wdr81	WD repeat domain 81	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8813619	Wdr81	WD repeat domain 81	gene	DOID:0050453	lissencephaly		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lissencephaly	PMID:25741868|PMID:28097321|PMID:28940097
8813619	Wdr81	WD repeat domain 81	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1606736	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868|PMID:26437881|PMID:27848944
8813619	Wdr81	WD repeat domain 81	gene	DOID:0070557	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2		ISO	RGD:1606736	D	RGD:7240710	20180130	OMIM			
8813619	Wdr81	WD repeat domain 81	gene	DOID:0070557	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2		ISO	RGD:1606736	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 2	PMID:25741868
8813619	Wdr81	WD repeat domain 81	gene	DOID:0070684	congenital hydrocephalus 3		ISO	RGD:1606736	D	RGD:7240710	20190315	OMIM			
8813619	Wdr81	WD repeat domain 81	gene	DOID:0070684	congenital hydrocephalus 3		ISO	RGD:1606736	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES | ClinVar Annotator: match by term: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Hydrocephalus, congenital, 3, with brain anomalies | ClinVar Annotator: match by term: WDR81-related condition	PMID:21885617|PMID:25741868|PMID:28492532|PMID:28969387
8813619	Wdr81	WD repeat domain 81	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1606736	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Exstrophy-epispadias complex	PMID:25741868
8813619	Wdr81	WD repeat domain 81	gene	DOID:0111406	Fraser syndrome 3		ISO	RGD:1606736	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fraser syndrome 3	
8813619	Wdr81	WD repeat domain 81	gene	DOID:1059	intellectual disability		ISO	RGD:1606736	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:21885617|PMID:25741868
8813619	Wdr81	WD repeat domain 81	gene	DOID:10907	microcephaly		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28097321|PMID:28940097
8813619	Wdr81	WD repeat domain 81	gene	DOID:1115	sarcoma		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8813619	Wdr81	WD repeat domain 81	gene	DOID:11383	cryptorchidism		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:28097321|PMID:28940097
8813619	Wdr81	WD repeat domain 81	gene	DOID:12449	aplastic anemia		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aplastic anemia	PMID:16371500|PMID:25741868
8813619	Wdr81	WD repeat domain 81	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868
8813619	Wdr81	WD repeat domain 81	gene	DOID:1324	lung cancer		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8813619	Wdr81	WD repeat domain 81	gene	DOID:1596	depressive disorder		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
8813619	Wdr81	WD repeat domain 81	gene	DOID:1826	epilepsy		ISO	RGD:1606736	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:21885617|PMID:25741868
8813619	Wdr81	WD repeat domain 81	gene	DOID:1827	generalized epilepsy		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:32581362
8813619	Wdr81	WD repeat domain 81	gene	DOID:1909	melanoma		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8813619	Wdr81	WD repeat domain 81	gene	DOID:2030	anxiety disorder		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
8813619	Wdr81	WD repeat domain 81	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8813619	Wdr81	WD repeat domain 81	gene	DOID:2841	asthma		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
8813619	Wdr81	WD repeat domain 81	gene	DOID:3275	thymoma		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8813619	Wdr81	WD repeat domain 81	gene	DOID:4362	cervical cancer		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8813619	Wdr81	WD repeat domain 81	gene	DOID:4626	hydranencephaly		ISO	RGD:1606736	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydranencephaly	PMID:25741868
8813619	Wdr81	WD repeat domain 81	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8813619	Wdr81	WD repeat domain 81	gene	DOID:5723	optic atrophy		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28097321|PMID:28940097
8813619	Wdr81	WD repeat domain 81	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813619	Wdr81	WD repeat domain 81	gene	DOID:630	genetic disease		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27528516|PMID:28097321|PMID:28492532|PMID:28940097|PMID:31785789
8813619	Wdr81	WD repeat domain 81	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
8813619	Wdr81	WD repeat domain 81	gene	DOID:9001510	Funnel Chest		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
8813619	Wdr81	WD repeat domain 81	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868|PMID:28097321|PMID:28940097
8813619	Wdr81	WD repeat domain 81	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8813619	Wdr81	WD repeat domain 81	gene	DOID:9003507	Premature Birth		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
8813619	Wdr81	WD repeat domain 81	gene	DOID:9004538	Hearing Loss		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8813619	Wdr81	WD repeat domain 81	gene	DOID:9004866	Ataxia		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:16371500|PMID:25741868
8813619	Wdr81	WD repeat domain 81	gene	DOID:9005077	Joint Instability		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8813619	Wdr81	WD repeat domain 81	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
8813619	Wdr81	WD repeat domain 81	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
8813619	Wdr81	WD repeat domain 81	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8813619	Wdr81	WD repeat domain 81	gene	DOID:9007661	Dwarfism		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28097321|PMID:28940097
8813619	Wdr81	WD repeat domain 81	gene	DOID:9008023	Memory Disorders		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
8813619	Wdr81	WD repeat domain 81	gene	DOID:9008539	Perinatal Death		ISO	RGD:1606736	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal death	PMID:25741868
8813619	Wdr81	WD repeat domain 81	gene	DOID:9970	obesity		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
8813649	Scarf2	scavenger receptor class F member 2	gene	DOID:0111699	Van den Ende-Gupta syndrome		ISO	RGD:1314385	D	RGD:7240710	20180130	OMIM			
8813649	Scarf2	scavenger receptor class F member 2	gene	DOID:0111699	Van den Ende-Gupta syndrome		ISO	RGD:1314385	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SCARF2-related condition | ClinVar Annotator: match by term: VAN DEN ENDE-GUPTA SYNDROME | ClinVar Annotator: match by term: Van den Ende-Gupta syndrome | ClinVar Annotator: match by term: van den Ende-Gupta syndrome	PMID:25741868|PMID:28492532
8813649	Scarf2	scavenger receptor class F member 2	gene	DOID:0112270	spermatogenic failure 52		ISO	RGD:12382097	D	RGD:9068941	20240914	OMIA		Van den Ende-Gupta syndrome	PMID:27187611|PMID:27803843|PMID:37582787
8813649	Scarf2	scavenger receptor class F member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8813649	Scarf2	scavenger receptor class F member 2	gene	DOID:10907	microcephaly		ISO	RGD:1314385	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8813649	Scarf2	scavenger receptor class F member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813649	Scarf2	scavenger receptor class F member 2	gene	DOID:630	genetic disease		ISO	RGD:1314385	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8813649	Scarf2	scavenger receptor class F member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1313896	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:11836	clubfoot		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:35979925
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:35979925
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:1909	melanoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868|PMID:35979925
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal tonic seizure	PMID:25741868
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:4890	juvenile myoclonic epilepsy		ISO	RGD:1313896	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Juvenile myoclonic epilepsy	PMID:25741868|PMID:35979925
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313896	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:35979925
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:9004553	NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE		ISO	RGD:1313896	D	RGD:7240710	20240306	OMIM			
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:9004553	NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline	PMID:25741868
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:9007586	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER		ISO	RGD:1313896	D	RGD:7240710	20240529	OMIM			
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:9007586	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER | ClinVar Annotator: match by term: Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder	PMID:25741868|PMID:35979925|PMID:36136249
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:35979925
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8813664	Caprin1	cell cycle associated protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8813694	Lmntd2	lamin tail domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8813694	Lmntd2	lamin tail domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8813694	Lmntd2	lamin tail domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8813694	Lmntd2	lamin tail domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8813694	Lmntd2	lamin tail domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8813694	Lmntd2	lamin tail domain containing 2	gene	DOID:5572	Beckwith-Wiedemann syndrome		ISO	RGD:405875144	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: KCNQ1-related condition	PMID:21910219|PMID:25427884|PMID:28492532
8813694	Lmntd2	lamin tail domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813694	Lmntd2	lamin tail domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8813694	Lmntd2	lamin tail domain containing 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8813694	Lmntd2	lamin tail domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8813694	Lmntd2	lamin tail domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8813745	Izumo4	IZUMO family member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349340	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8813745	Izumo4	IZUMO family member 4	gene	DOID:1324	lung cancer		ISO	RGD:1349340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8813745	Izumo4	IZUMO family member 4	gene	DOID:1909	melanoma		ISO	RGD:1349340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8813745	Izumo4	IZUMO family member 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8813745	Izumo4	IZUMO family member 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8813745	Izumo4	IZUMO family member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1346893	D	RGD:9068941	20200609	RGD			PMID:14688203|REF_RGD_ID:5686803
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:3070	high grade glioma		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:3275	thymoma		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1303075	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung (rat)	PMID:24670792|REF_RGD_ID:10445835
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346893	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:4928	intrahepatic cholangiocarcinoma	disease_progression	ISO	RGD:1346893	D	RGD:9068941	20220519	RGD		protein:increased expression:liver (human)	PMID:24796583|REF_RGD_ID:152177907
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346893	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:4989	pancreatitis		ISO	RGD:1303075	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (rat)	PMID:19346995|REF_RGD_ID:5686868
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346893	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1346893	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:767	muscular atrophy		ISO	RGD:1303075	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:soleus muscle (rat)	PMID:21639837|REF_RGD_ID:5686383
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1303075	D	RGD:9068941	20200609	RGD		protein:decreased expression:spinal cord (rat)	PMID:24499940|REF_RGD_ID:10445836
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1346893	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17566973
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:9007456	Female Infertility		ISO	RGD:1346893	D	RGD:9068941	20200609	RGD			PMID:19022436|REF_RGD_ID:10445839
8813783	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8813800	Rps25	ribosomal protein S25	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8813800	Rps25	ribosomal protein S25	gene	DOID:1115	sarcoma		ISO	RGD:1353637	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8813800	Rps25	ribosomal protein S25	gene	DOID:1324	lung cancer		ISO	RGD:1353637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8813800	Rps25	ribosomal protein S25	gene	DOID:4362	cervical cancer		ISO	RGD:1353637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8813800	Rps25	ribosomal protein S25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813800	Rps25	ribosomal protein S25	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8813800	Rps25	ribosomal protein S25	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8813809	Rab22a	RAB22A, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8813809	Rab22a	RAB22A, member RAS oncogene family	gene	DOID:10534	stomach cancer		ISO	RGD:1323682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8813809	Rab22a	RAB22A, member RAS oncogene family	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8813809	Rab22a	RAB22A, member RAS oncogene family	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8813809	Rab22a	RAB22A, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813809	Rab22a	RAB22A, member RAS oncogene family	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8813809	Rab22a	RAB22A, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8813809	Rab22a	RAB22A, member RAS oncogene family	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8813841	Nlrc4	NLR family CARD domain containing 4	gene	DOID:0090065	familial cold autoinflammatory syndrome 4		ISO	RGD:1320383	D	RGD:7240710	20180130	OMIM			
8813841	Nlrc4	NLR family CARD domain containing 4	gene	DOID:0090065	familial cold autoinflammatory syndrome 4		ISO	RGD:1320383	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 | ClinVar Annotator: match by term: NLRC4-related disorder	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:24033266|PMID:25217960|PMID:25385754|PMID:25741868|PMID:27203668|PMID:27974463|PMID:28492532|PMID:29778503|PMID:30864118|PMID:33822359|PMID:36797819|PMID:37178069|PMID:9536098
8813841	Nlrc4	NLR family CARD domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1320383	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8813841	Nlrc4	NLR family CARD domain containing 4	gene	DOID:12450	pancytopenia		ISO	RGD:1320383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:25741868
8813841	Nlrc4	NLR family CARD domain containing 4	gene	DOID:2841	asthma		ISO	RGD:1320383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
8813841	Nlrc4	NLR family CARD domain containing 4	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1320383	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:25741868|PMID:28492532
8813841	Nlrc4	NLR family CARD domain containing 4	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1320383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:28492532
8813841	Nlrc4	NLR family CARD domain containing 4	gene	DOID:3310	atopic dermatitis		ISO	RGD:1320383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:28492532
8813841	Nlrc4	NLR family CARD domain containing 4	gene	DOID:4481	allergic rhinitis		ISO	RGD:1320383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	PMID:28492532
8813841	Nlrc4	NLR family CARD domain containing 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8813841	Nlrc4	NLR family CARD domain containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1320383	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8813841	Nlrc4	NLR family CARD domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813841	Nlrc4	NLR family CARD domain containing 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1320383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8813841	Nlrc4	NLR family CARD domain containing 4	gene	DOID:630	genetic disease		ISO	RGD:1320383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8813841	Nlrc4	NLR family CARD domain containing 4	gene	DOID:9002720	Splenomegaly		ISO	RGD:1320383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868
8813841	Nlrc4	NLR family CARD domain containing 4	gene	DOID:9002798	Macrophage Activation Syndrome		ISO	RGD:1320383	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25217959
8813841	Nlrc4	NLR family CARD domain containing 4	gene	DOID:9002805	Enterocolitis		ISO	RGD:1320383	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25217960
8813841	Nlrc4	NLR family CARD domain containing 4	gene	DOID:9006364	Hereditary Autoinflammatory Diseases		ISO	RGD:1320383	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25217959|PMID:25217960
8813841	Nlrc4	NLR family CARD domain containing 4	gene	DOID:9008410	Autoinflammation with Infantile Enterocolitis		ISO	RGD:1320383	D	RGD:7240710	20180130	OMIM			
8813841	Nlrc4	NLR family CARD domain containing 4	gene	DOID:9008410	Autoinflammation with Infantile Enterocolitis		ISO	RGD:1320383	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS | ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	PMID:24033266|PMID:25217959|PMID:25217960|PMID:25741868|PMID:27203668|PMID:28492532|PMID:29326099|PMID:29778503|PMID:30864118|PMID:36797819
8813841	Nlrc4	NLR family CARD domain containing 4	gene	DOID:9008464	Cryopyrin-Associated Periodic Syndromes		ISO	RGD:1320383	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8813859	Cpsf2	cleavage and polyadenylation specific factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8813859	Cpsf2	cleavage and polyadenylation specific factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8813859	Cpsf2	cleavage and polyadenylation specific factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1320166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8813859	Cpsf2	cleavage and polyadenylation specific factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8813859	Cpsf2	cleavage and polyadenylation specific factor 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8813859	Cpsf2	cleavage and polyadenylation specific factor 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8813859	Cpsf2	cleavage and polyadenylation specific factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813859	Cpsf2	cleavage and polyadenylation specific factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8813859	Cpsf2	cleavage and polyadenylation specific factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8813859	Cpsf2	cleavage and polyadenylation specific factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8813896	Swsap1	SWIM-type zinc finger 7 associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813896	Swsap1	SWIM-type zinc finger 7 associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8813902	Gas2l3	growth arrest specific 2 like 3	gene	DOID:0080600	COVID-19		ISO	RGD:1315710	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8813902	Gas2l3	growth arrest specific 2 like 3	gene	DOID:1909	melanoma		ISO	RGD:1315710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8813902	Gas2l3	growth arrest specific 2 like 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8813902	Gas2l3	growth arrest specific 2 like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813902	Gas2l3	growth arrest specific 2 like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8813919	Sec14l4	SEC14 like lipid binding 4	gene	DOID:1909	melanoma		ISO	RGD:1343842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8813919	Sec14l4	SEC14 like lipid binding 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8813919	Sec14l4	SEC14 like lipid binding 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813919	Sec14l4	SEC14 like lipid binding 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8813919	Sec14l4	SEC14 like lipid binding 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8813947	Wfikkn1	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8813947	Wfikkn1	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1342711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8813947	Wfikkn1	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8813947	Wfikkn1	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8813963	Immp1l	inner mitochondrial membrane peptidase subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8813963	Immp1l	inner mitochondrial membrane peptidase subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1601711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8813963	Immp1l	inner mitochondrial membrane peptidase subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1601711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8813963	Immp1l	inner mitochondrial membrane peptidase subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1601711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8813963	Immp1l	inner mitochondrial membrane peptidase subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813963	Immp1l	inner mitochondrial membrane peptidase subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8813991	Fkbp7	FKBP prolyl isomerase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1313236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8813991	Fkbp7	FKBP prolyl isomerase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder cancer	
8813991	Fkbp7	FKBP prolyl isomerase 7	gene	DOID:1324	lung cancer		ISO	RGD:1313236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8813991	Fkbp7	FKBP prolyl isomerase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1313236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8813991	Fkbp7	FKBP prolyl isomerase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8813991	Fkbp7	FKBP prolyl isomerase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8813991	Fkbp7	FKBP prolyl isomerase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8814014	Smim2	small integral membrane protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:7246688	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8814015	Meis1	Meis homeobox 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8814015	Meis1	Meis homeobox 1	gene	DOID:0050425	restless legs syndrome		ISO	RGD:1315277	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17637780|PMID:28604731
8814015	Meis1	Meis homeobox 1	gene	DOID:0050425	restless legs syndrome		ISO	RGD:1550525	D	RGD:9068941	20240801	MouseDO			
8814015	Meis1	Meis homeobox 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8814015	Meis1	Meis homeobox 1	gene	DOID:114	heart disease		ISO	RGD:1315277	D	RGD:9068941	20221027	RGD		mRNA, protein:decreased expression:heart (human)	PMID:26597775|REF_RGD_ID:11554891
8814015	Meis1	Meis homeobox 1	gene	DOID:1324	lung cancer		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8814015	Meis1	Meis homeobox 1	gene	DOID:13938	amenorrhea		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:25741868
8814015	Meis1	Meis homeobox 1	gene	DOID:1909	melanoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8814015	Meis1	Meis homeobox 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8814015	Meis1	Meis homeobox 1	gene	DOID:3275	thymoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8814015	Meis1	Meis homeobox 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8814015	Meis1	Meis homeobox 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8814015	Meis1	Meis homeobox 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8814015	Meis1	Meis homeobox 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315277	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8814015	Meis1	Meis homeobox 1	gene	DOID:5394	prolactinoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroprolactinoma	PMID:25741868
8814015	Meis1	Meis homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814015	Meis1	Meis homeobox 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8814015	Meis1	Meis homeobox 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1550525	D	RGD:9068941	20221027	RGD		mRNA, protein:decreased expression:heart (mouse)	PMID:26597775|REF_RGD_ID:11554891
8814015	Meis1	Meis homeobox 1	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1315277	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28604731
8814015	Meis1	Meis homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8814015	Meis1	Meis homeobox 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1315277	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19776672
8814015	Meis1	Meis homeobox 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8814057	Tbc1d8	TBC1 domain family member 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8814057	Tbc1d8	TBC1 domain family member 8	gene	DOID:10534	stomach cancer		ISO	RGD:1347118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8814057	Tbc1d8	TBC1 domain family member 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8814057	Tbc1d8	TBC1 domain family member 8	gene	DOID:1115	sarcoma		ISO	RGD:1347118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8814057	Tbc1d8	TBC1 domain family member 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8814057	Tbc1d8	TBC1 domain family member 8	gene	DOID:4362	cervical cancer		ISO	RGD:1347118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8814057	Tbc1d8	TBC1 domain family member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814057	Tbc1d8	TBC1 domain family member 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8814057	Tbc1d8	TBC1 domain family member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8814082	Mpp1	MAGUK p55 scaffold protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8814082	Mpp1	MAGUK p55 scaffold protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8814082	Mpp1	MAGUK p55 scaffold protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8814082	Mpp1	MAGUK p55 scaffold protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1347904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8814082	Mpp1	MAGUK p55 scaffold protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1347904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8814082	Mpp1	MAGUK p55 scaffold protein 1	gene	DOID:1909	melanoma		ISO	RGD:1347904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8814082	Mpp1	MAGUK p55 scaffold protein 1	gene	DOID:299	adenocarcinoma		ISO	RGD:1347904	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552421
8814082	Mpp1	MAGUK p55 scaffold protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814082	Mpp1	MAGUK p55 scaffold protein 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1347904	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552421
8814082	Mpp1	MAGUK p55 scaffold protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8814082	Mpp1	MAGUK p55 scaffold protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8814098	Mgat2	alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	gene	DOID:0070253	congenital disorder of glycosylation type IIa		ISO	RGD:731495	D	RGD:7240710	20180130	OMIM			
8814098	Mgat2	alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	gene	DOID:0070253	congenital disorder of glycosylation type IIa		ISO	RGD:731495	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa | ClinVar Annotator: match by term: MGAT2-related condition	PMID:22105986|PMID:25558065|PMID:25741868|PMID:28492532|PMID:28742265
8814098	Mgat2	alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	gene	DOID:1657	ventricular septal defect		ISO	RGD:731495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
8814098	Mgat2	alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:731495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868
8814098	Mgat2	alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	gene	DOID:630	genetic disease		ISO	RGD:731495	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8814098	Mgat2	alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	gene	DOID:9003145	Nuchal Bleb, Familial		ISO	RGD:731495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal cystic hygroma	
8814098	Mgat2	alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:731495	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8814098	Mgat2	alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	gene	DOID:9004324	Congenital, Hereditary, and Neonatal Diseases and Abnormalities		ISO	RGD:731496	D	RGD:9068941	20200609	RGD			PMID:11805078|REF_RGD_ID:1581206
8814108	Ddias	DNA damage induced apoptosis suppressor	gene	DOID:10534	stomach cancer		ISO	RGD:1602966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8814108	Ddias	DNA damage induced apoptosis suppressor	gene	DOID:1115	sarcoma		ISO	RGD:1602966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8814108	Ddias	DNA damage induced apoptosis suppressor	gene	DOID:1909	melanoma		ISO	RGD:1602966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8814108	Ddias	DNA damage induced apoptosis suppressor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8814108	Ddias	DNA damage induced apoptosis suppressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814108	Ddias	DNA damage induced apoptosis suppressor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8814145	Il34	interleukin 34	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8814145	Il34	interleukin 34	gene	DOID:10534	stomach cancer		ISO	RGD:1602184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8814145	Il34	interleukin 34	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1602184	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8814145	Il34	interleukin 34	gene	DOID:4362	cervical cancer		ISO	RGD:1602184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8814145	Il34	interleukin 34	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814145	Il34	interleukin 34	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8814145	Il34	interleukin 34	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8814145	Il34	interleukin 34	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8814179	LOC102005867	protein S100-A8	gene	DOID:9000955	Acute Otitis Media		IEP		D	RGD:11553828|PMID:26711468	20161013	RGD		mRNA, protein:increased expression:mucosa of middle ear	
8814186	Lgals2	galectin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8814186	Lgals2	galectin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8814186	Lgals2	galectin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814186	Lgals2	galectin 2	gene	DOID:5844	myocardial infarction		ISO	RGD:735390	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	
8814186	Lgals2	galectin 2	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:735390	D	RGD:7240710	20190502	OMIM			
8814186	Lgals2	galectin 2	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:735390	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18806098
8814186	Lgals2	galectin 2	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:735390	D	RGD:9068941	20200609	RGD			PMID:17040205|REF_RGD_ID:1581853
8814186	Lgals2	galectin 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735390	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8814197	Cers1	ceramide synthase 1	gene	DOID:0050753	cerebellar ataxia	treatment	ISO	RGD:1622181	D	RGD:9068941	20230302	RGD			PMID:21625621|REF_RGD_ID:156431058
8814197	Cers1	ceramide synthase 1	gene	DOID:0050866	oral squamous cell carcinoma	exacerbates	ISO	RGD:1622181	D	RGD:9068941	20230302	RGD			PMID:33753723|REF_RGD_ID:156431057
8814197	Cers1	ceramide synthase 1	gene	DOID:0111451	progressive myoclonus epilepsy 8		ISO	RGD:1314323	D	RGD:7240710	20180130	OMIM			
8814197	Cers1	ceramide synthase 1	gene	DOID:11088	asphyxia neonatorum		ISO	RGD:1305974	D	RGD:9068941	20230302	RGD			PMID:23625371|REF_RGD_ID:156431056
8814197	Cers1	ceramide synthase 1	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1314323	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8814197	Cers1	ceramide synthase 1	gene	DOID:9007692	Insulin Resistance	ameliorates	ISO	RGD:1622181	D	RGD:9068941	20230302	RGD			PMID:30605666|REF_RGD_ID:156431060
8814197	Cers1	ceramide synthase 1	gene	DOID:9970	obesity		ISO	RGD:1622181	D	RGD:9068941	20230302	RGD		mRNA:increased expression:skeletal muscle cell	PMID:30605666|REF_RGD_ID:156431060
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:0050908	myelodysplastic syndrome	disease_progression	ISO	RGD:737145	D	RGD:9068941	20200609	RGD		DNA:mutation: :	PMID:24936872|REF_RGD_ID:11522722
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:0060058	lymphoma		ISO	RGD:737145	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:0060221	Maffucci syndrome		ISO	RGD:737145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Maffucci syndrome	PMID:25741868
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:737145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26285909
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:737145	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Adenocystic carcinoma	PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:0080600	COVID-19		ISO	RGD:737145	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:737145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27-altered	PMID:25741868
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:737145	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:25741868
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:0111537	paroxysmal extreme pain disorder		ISO	RGD:737145	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Paroxysmal extreme pain disorder	PMID:25741868|PMID:34298581
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:10534	stomach cancer		ISO	RGD:737145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:1115	sarcoma		ISO	RGD:737145	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:1324	lung cancer		ISO	RGD:737145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:737145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:19228619|PMID:19246647|PMID:19935646|PMID:20513808|PMID:21326614|PMID:24140581|PMID:24529257|PMID:26061751|PMID:27993330|PMID:28330869|PMID:30326163|PMID:33772213|PMID:35101336|PMID:35604410|PMID:40335748
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:1909	melanoma		ISO	RGD:737145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:2526	prostate adenocarcinoma		ISO	RGD:737145	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Prostate adenocarcinoma	PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:255	hemangioma		ISO	RGD:737145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22057234
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:2602	chondroma		ISO	RGD:737145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22057234|PMID:25895133
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:3068	glioblastoma	disease_progression	ISO	RGD:737145	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:p.R132(human)	PMID:25495392|REF_RGD_ID:11074562
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:3068	glioblastoma	onset	ISO	RGD:737145	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:p.R132H(human)	PMID:19765000|REF_RGD_ID:11522732
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:3070	high grade glioma		ISO	RGD:737145	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:3070	high grade glioma		ISO	RGD:737145	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9 | ClinVar Annotator: match by term: IDH1-related condition	PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:24728327|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:28492532|PMID:30231226|PMID:36201590
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:3070	high grade glioma		ISO	RGD:737145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: IDH1-related condition	PMID:25741868|PMID:28492532
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:3070	high grade glioma	susceptibility	ISO	RGD:737145	D	RGD:7240710	20190502	OMIM			
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:3181	oligodendroglioma		ISO	RGD:737145	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:20160062
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:737145	D	RGD:9068941	20210723	RGD		protein:increased expression:blood plasma (human)	PMID:24046070|REF_RGD_ID:149735540
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:737145	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung	PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:737145	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung	PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:737145	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:737145	D	RGD:9068941	20210723	RGD		mRNA:increased expression:lung (human)	PMID:29537891|REF_RGD_ID:149735539
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:737145	D	RGD:9068941	20210723	RGD		protein:increased expression:blood plasma (human)	PMID:24046070|REF_RGD_ID:149735540
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:417	autoimmune disease		ISO	RGD:737145	D	RGD:9068941	20200609	RGD		associated with  intrahepatic cholangiocarcinoma; DNA:missense mutations:cds:p. R132C, R132G, and R132L (human)	PMID:31121195|REF_RGD_ID:14974230
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:4624	Ollier disease		ISO	RGD:737145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enchondromatosis	PMID:25741868
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:4928	intrahepatic cholangiocarcinoma	no_association	ISO	RGD:737145	D	RGD:9068941	20200609	RGD		DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human)	PMID:26245674|REF_RGD_ID:14974229
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24185509
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:5016	hepatocellular clear cell carcinoma	disease_progression	ISO	RGD:737145	D	RGD:9068941	20200609	RGD		DNA:misssense mutation:cds:p.Arg132Cys(human)	PMID:28403884|REF_RGD_ID:14974227
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:5016	hepatocellular clear cell carcinoma	disease_progression	ISO	RGD:737145	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :rs12478635(human)	PMID:25355558|REF_RGD_ID:14974228
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:8923	skin melanoma		ISO	RGD:737145	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:737145	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:35172013
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:737145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26285909
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:9005837	Cholangiofibrosis	severity	ISO	RGD:737145	D	RGD:9068941	20200609	RGD		associated with  intrahepatic cholangiocarcinoma; DNA:missense mutations:cds:p. R132C, R132G, and R132L (human)	PMID:31121195|REF_RGD_ID:14974230
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:737145	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Brain neoplasm	PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:737145	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Brain Neoplasms	PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737145	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms	PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737145	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms	PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:27993330
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:737145	D	RGD:9068941	20200609	RGD		DNA:SNP::105C>T (rs11554137)(human)	PMID:25324972|REF_RGD_ID:11522721
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:737145	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:p.R132(human)	PMID:20368543|REF_RGD_ID:11522718
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:737145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22674224
8814206	Idh1	isocitrate dehydrogenase (NADP(+)) 1	gene	DOID:9970	obesity		ISO	RGD:10758	D	RGD:9068941	20200609	RGD			PMID:14969338|REF_RGD_ID:1626475
8814234	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8814234	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8814234	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:0060879	primary hypomagnesemia		ISO	RGD:1317777	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypomagnesemia	
8814234	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:0060884	renal hypomagnesemia 6		ISO	RGD:1317777	D	RGD:7240710	20180130	OMIM			
8814234	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:0060884	renal hypomagnesemia 6		ISO	RGD:1317777	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPOMAGNESEMIA 6, RENAL | ClinVar Annotator: match by term: Renal hypomagnesemia 6	PMID:24699222|PMID:25741868|PMID:28492532|PMID:34604137
8814234	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8814234	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:1059	intellectual disability		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8814234	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8814234	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:11832	visual epilepsy		ISO	RGD:1317777	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:23027747
8814234	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:24699222|PMID:25741868
8814234	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:1909	melanoma		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8814234	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8814234	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:557	kidney disease		ISO	RGD:1317777	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23027747
8814234	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:630	genetic disease		ISO	RGD:1317777	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8814234	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1317777	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23027747
8814234	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:9000363	Hematuria		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematuria	PMID:25741868
8814234	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317777	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
8814234	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:9005063	HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1		ISO	RGD:1317777	D	RGD:7240710	20180130	OMIM			
8814234	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:9005063	HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1		ISO	RGD:1317777	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: CNNM2-related condition | ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 1 | ClinVar Annotator: match by term: hypomagnesemia, seizures, and intellectual disability 1	PMID:24699222|PMID:25741868|PMID:28492532|PMID:33568487|PMID:34604137
8814234	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8814234	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:9008449	Tetany		ISO	RGD:1317777	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23027747
8814246	Mmp21	matrix metallopeptidase 21	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1319622	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Heterotaxy syndrome	PMID:24033266|PMID:25741868|PMID:26437028
8814246	Mmp21	matrix metallopeptidase 21	gene	DOID:0051021	visceral heterotaxy 7		ISO	RGD:1319622	D	RGD:7240710	20190315	OMIM			
8814246	Mmp21	matrix metallopeptidase 21	gene	DOID:0051021	visceral heterotaxy 7		ISO	RGD:1319622	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 7, AUTOSOMAL | ClinVar Annotator: match by term: Heterotaxy, visceral, 7, autosomal | ClinVar Annotator: match by term: MMP21-related condition	PMID:24033266|PMID:25741868|PMID:26437028|PMID:28492532
8814246	Mmp21	matrix metallopeptidase 21	gene	DOID:1682	congenital heart disease		ISO	RGD:1319622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	
8814246	Mmp21	matrix metallopeptidase 21	gene	DOID:37	skin disease		ISO	RGD:1319622	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16984259
8814246	Mmp21	matrix metallopeptidase 21	gene	DOID:4362	cervical cancer		ISO	RGD:1319622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8814246	Mmp21	matrix metallopeptidase 21	gene	DOID:4415	fibrous histiocytoma		ISO	RGD:1319622	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16984259
8814246	Mmp21	matrix metallopeptidase 21	gene	DOID:5041	esophageal cancer		ISO	RGD:1319622	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8814246	Mmp21	matrix metallopeptidase 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814246	Mmp21	matrix metallopeptidase 21	gene	DOID:630	genetic disease		ISO	RGD:1319622	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8814246	Mmp21	matrix metallopeptidase 21	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8814261	Fbxo15	F-box protein 15	gene	DOID:10534	stomach cancer		ISO	RGD:1321642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8814261	Fbxo15	F-box protein 15	gene	DOID:1115	sarcoma		ISO	RGD:1321642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8814261	Fbxo15	F-box protein 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814261	Fbxo15	F-box protein 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:10928	D	RGD:9068941	20220825	MouseDO			
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:3123	D	RGD:9068941	20200609	RGD		protein:decreased expression:colon	PMID:17847023|REF_RGD_ID:7349371
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:0060180	colitis		ISO	RGD:10785	D	RGD:9068941	20200609	RGD		protein:decreased sulfation:descending colon	PMID:12395902|REF_RGD_ID:7349356
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:0060180	colitis		ISO	RGD:3123	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:colon	PMID:19220658|REF_RGD_ID:2324675
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:0060180	colitis	treatment	ISO	RGD:3123	D	RGD:9068941	20200609	RGD			PMID:21949848|PMID:23395625|REF_RGD_ID:7349360|REF_RGD_ID:7349385
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:0080178	mucositis		ISO	RGD:3123	D	RGD:9068941	20200609	RGD		protein:decreased expression:intestine	PMID:18998135|REF_RGD_ID:2303603
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:10534	stomach cancer		ISO	RGD:735987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:11204	allergic conjunctivitis	severity	ISO	RGD:735987	D	RGD:9068941	20200609	RGD			PMID:17177679|REF_RGD_ID:7349351
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:735987	D	RGD:9068941	20200609	RGD			PMID:18507686|REF_RGD_ID:2324885
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:1324	lung cancer		ISO	RGD:735987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:1485	cystic fibrosis		ISO	RGD:735987	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nasal mucosa (human)	PMID:9155717|REF_RGD_ID:5131426
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:1679	cystitis		ISO	RGD:735987	D	RGD:9068941	20200609	RGD			PMID:17659847|REF_RGD_ID:7349345
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:1984	rectal benign neoplasm		ISO	RGD:735987	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12468628
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:219	colon cancer		ISO	RGD:3123	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:colon	PMID:20459814|REF_RGD_ID:7349368
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:219	colon cancer		ISO	RGD:3123	D	RGD:9068941	20200609	RGD		protein:decreased expression:colon	PMID:17847023|REF_RGD_ID:7349371
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:2841	asthma		ISO	RGD:10928	D	RGD:9068941	20200609	RGD			PMID:14594655|REF_RGD_ID:7349354
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:2841	asthma		ISO	RGD:735987	D	RGD:9068941	20200609	RGD		associated with hypersensitivity	PMID:11062147|REF_RGD_ID:5131178
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:299	adenocarcinoma		ISO	RGD:735987	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12468628
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:3030	mucinous adenocarcinoma		ISO	RGD:735987	D	RGD:9068941	20200609	RGD		associated Pancreatic Neoplasms;protein:increased expression:pancreas	PMID:12717243|REF_RGD_ID:2317985
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:3030	mucinous adenocarcinoma		ISO	RGD:735987	D	RGD:9068941	20200609	RGD		associated with  pancreatic neoplasms;protein:increased expression:pancreas	PMID:17708554|REF_RGD_ID:2324887
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:3030	mucinous adenocarcinoma		ISO	RGD:735987	D	RGD:9068941	20200609	RGD		associated with cholangiocarcinoma;mRNA,protein:increased expression:bile duct	PMID:15048136|REF_RGD_ID:2324868
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:3030	mucinous adenocarcinoma		ISO	RGD:735987	D	RGD:9068941	20200609	RGD		associated with pancreatic diseases;protein:increased expression:pancreas	PMID:19954814|REF_RGD_ID:2324889
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:326	ischemia		ISO	RGD:3123	D	RGD:9068941	20200609	RGD		protein:decreased expression:jejunum	PMID:22768227|REF_RGD_ID:7349363
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735987	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:bile duct	PMID:11680592|REF_RGD_ID:2324948
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:5041	esophageal cancer		ISO	RGD:735987	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:5082	liver cirrhosis		ISO	RGD:3123	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ileum	PMID:22172882|REF_RGD_ID:7349362
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:5295	intestinal disease	treatment	ISO	RGD:3123	D	RGD:9068941	20200609	RGD			PMID:22293291|REF_RGD_ID:7349361
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:552	pneumonia	treatment	ISO	RGD:3123	D	RGD:9068941	20200609	RGD			PMID:23590300|REF_RGD_ID:7349359
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:657	adenoma		ISO	RGD:735987	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12468628
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:8577	ulcerative colitis		ISO	RGD:3123	D	RGD:9068941	20200609	RGD		mRNA:altered expression: :	PMID:12870797|REF_RGD_ID:2324685
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:3123	D	RGD:9068941	20211015	RGD		mRNA:decreased expression:ileum	PMID:20501441|REF_RGD_ID:2324672
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:735987	D	RGD:9068941	20200609	RGD		protein:increased expression:gallbladder	PMID:15260848|REF_RGD_ID:2324651
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:9000645	Rotavirus Infections		ISO	RGD:10928	D	RGD:9068941	20200609	RGD			PMID:15882887|REF_RGD_ID:7349352
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:3123	D	RGD:9068941	20200609	RGD			PMID:19287349|REF_RGD_ID:7349369
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:9002245	Intestinal Neoplasms		ISO	RGD:735987	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12468628
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:9002953	Escherichia Coli Infections		ISO	RGD:3123	D	RGD:9068941	20200609	RGD			PMID:23798529|REF_RGD_ID:7349358
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:9002992	Nematode Infections		ISO	RGD:10928	D	RGD:9068941	20200609	RGD			PMID:20138044|REF_RGD_ID:7349349
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:9002992	Nematode Infections		ISO	RGD:3123	D	RGD:9068941	20200609	RGD		mRNA:increased expression:intestine	PMID:16689826|REF_RGD_ID:2303607
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:9004283	Transplant Rejection		ISO	RGD:3123	D	RGD:9068941	20200609	RGD			PMID:12717211|REF_RGD_ID:7349372
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:9005372	Inflammation		ISO	RGD:3123	D	RGD:9068941	20200609	RGD		protein:altered expression:colon	PMID:15980276|REF_RGD_ID:8693640
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:9005930	Endotoxemia		ISO	RGD:3123	D	RGD:9068941	20200609	RGD			PMID:19099858|REF_RGD_ID:7349370
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:9006970	Cestode Infections		ISO	RGD:3123	D	RGD:9068941	20200609	RGD			PMID:17187651|REF_RGD_ID:7349350
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:9206	Barrett's esophagus	disease_progression	ISO	RGD:735987	D	RGD:9068941	20200609	RGD			PMID:23011828|REF_RGD_ID:7349348
8814309	Muc2	mucin 2, oligomeric mucus/gel-forming	gene	DOID:9256	colorectal cancer		ISO	RGD:735987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8814360	Phlda2	pleckstrin homology like domain family A member 2	gene	DOID:0080600	COVID-19		ISO	RGD:1312382	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
8814360	Phlda2	pleckstrin homology like domain family A member 2	gene	DOID:3347	osteosarcoma		ISO	RGD:1312382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22021909
8814360	Phlda2	pleckstrin homology like domain family A member 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1312382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15496427
8814360	Phlda2	pleckstrin homology like domain family A member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814360	Phlda2	pleckstrin homology like domain family A member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1350607	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:18414213|PMID:21280141|PMID:25741868|PMID:26467025|PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0050581	brachydactyly		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:22126750|PMID:25741868|PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1350607	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21804550
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1350607	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARGE syndrome	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0050840	cervical dystonia		ISO	RGD:1350607	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0050866	oral squamous cell carcinoma	severity	ISO	RGD:1350607	D	RGD:9068941	20211119	RGD			PMID:31660637|REF_RGD_ID:150521713
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0050873	follicular lymphoma		ISO	RGD:1350607	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24362818
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1350607	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0060058	lymphoma		ISO	RGD:1350607	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0060249	scoliosis		ISO	RGD:1350607	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0060260	ptosis		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:21280141|PMID:22126750|PMID:28492532|PMID:30107592
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0060305	megalocornea		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megalocornea	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0060473	Kabuki syndrome		ISO	RGD:1350607	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Kabuki syndrome | ClinVar Annotator: match by term: Niikawa-Kuroki syndrome	PMID:12482968|PMID:14608645|PMID:14699623|PMID:16199547|PMID:16603732|PMID:17576681|PMID:18414213|PMID:19625956|PMID:20711175|PMID:2071175|PMID:21280141|PMID:21607748|PMID:21658225|PMID:21671394|PMID:21882399|PMID:22126750|PMID:22304445|PMID:22740433|PMID:22786791|PMID:23320472|PMID:23757202|PMID:23913813|PMID:24033266|PMID:24311525|PMID:24633898|PMID:24728327|PMID:24739679|PMID:25142838|PMID:25281733|PMID:25326635|PMID:25363768|PMID:25741868|PMID:25755104|PMID:25896430|PMID:25972376|PMID:26049589|PMID:26194542|PMID:26300940|PMID:26467025|PMID:26512256|PMID:26785492|PMID:26898171|PMID:26938784|PMID:27257180|PMID:27302555|PMID:27353043|PMID:27530205|PMID:27534895|PMID:27568880|PMID:27573763|PMID:27620904|PMID:27778401|PMID:27991736|PMID:28256057|PMID:28295206|PMID:28475860|PMID:28492532|PMID:28884889|PMID:28884922|PMID:28933623|PMID:28973083|PMID:29089047|PMID:29168297|PMID:29255178|PMID:29276005|PMID:29283410|PMID:29304373|PMID:29321794|PMID:29450879|PMID:29453417|PMID:29536651|PMID:29725259|PMID:29907798|PMID:30107592|PMID:30143558|PMID:30266093|PMID:30287924|PMID:30459467|PMID:30578106|PMID:3067577|PMID:30950893|PMID:31235699|PMID:31363182|PMID:31624253|PMID:31654559|PMID:31727177|PMID:31785789|PMID:31883305|PMID:31935506|PMID:31949313|PMID:31981491|PMID:32037394|PMID:32124548|PMID:32135276|PMID:32170002|PMID:32369273|PMID:32371413|PMID:32441320|PMID:32803813|PMID:33084842|PMID:33314698|PMID:33880452|PMID:34011629|PMID:34232366|PMID:35050747|PMID:35060672|PMID:35904121|PMID:35982160|PMID:36474027|PMID:36672956|PMID:37043208|PMID:37745857|PMID:3913813|PMID:9285441|PMID:9536098
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0060473	Kabuki syndrome		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Kabuki make-up syndrome | ClinVar Annotator: match by term: Kabuki syndrome | ClinVar Annotator: match by term: NIIKAWA-KUROKI SYNDROME | ClinVar Annotator: match by term: Niikawa-Kuroki syndrome | ClinVar Annotator: match by term: kabuki syndrome	PMID:12482968|PMID:14608645|PMID:14699623|PMID:16199547|PMID:16603732|PMID:17576681|PMID:18414213|PMID:20711175|PMID:21163964|PMID:21280141|PMID:21607748|PMID:21658225|PMID:21671394|PMID:21882399|PMID:22126750|PMID:22304445|PMID:22740433|PMID:22786791|PMID:23320472|PMID:23913813|PMID:24311525|PMID:24633898|PMID:25142838|PMID:25281733|PMID:25326637|PMID:25741868|PMID:25755104|PMID:25896430|PMID:25972376|PMID:26049589|PMID:26194542|PMID:26467025|PMID:26512256|PMID:26785492|PMID:26898171|PMID:26938784|PMID:27058611|PMID:27302555|PMID:27353043|PMID:27568880|PMID:27573763|PMID:27778401|PMID:27991736|PMID:27993330|PMID:28256057|PMID:28295206|PMID:28475860|PMID:28492532|PMID:28726821|PMID:28884889|PMID:28884922|PMID:29276005|PMID:29304373|PMID:29321794|PMID:29450879|PMID:29453417|PMID:29725259|PMID:29846842|PMID:30107592|PMID:30143558|PMID:30266093|PMID:30459467|PMID:30476936|PMID:30578106|PMID:3067577|PMID:30950893|PMID:31235699|PMID:31363182|PMID:31624253|PMID:31654559|PMID:31727177|PMID:31883305|PMID:31935506|PMID:31949313|PMID:32037394|PMID:32124548|PMID:32135276|PMID:32170002|PMID:32369273|PMID:32371413|PMID:32441320|PMID:32803813|PMID:33172502|PMID:33314698|PMID:33547396|PMID:33616304|PMID:34232366|PMID:34570271|PMID:35050747|PMID:35361250|PMID:35904121|PMID:35973905|PMID:36028527|PMID:36672956|PMID:37745857|PMID:37810849|PMID:37815018|PMID:38676773|PMID:9285441|PMID:9536098
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0060639	permanent neonatal diabetes mellitus		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Permanent Neonatal Diabetes Mellitus	PMID:25741868|PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1350607	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Smith-Magenis Syndrome-like	PMID:27799067
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0070056	autosomal dominant intellectual developmental disorder 26		ISO	RGD:1350607	D	RGD:8554872	20220426	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder due to AUTS2 deficiency	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0070183	spermatogenic failure 5		ISO	RGD:1350607	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0080171	esophageal atresia/tracheoesophageal fistula		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:20711175|PMID:21163964|PMID:22820256|PMID:22832583|PMID:23184418|PMID:25741868|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30107592|PMID:30950893|PMID:33172502
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0080707	medulloblastoma non-WNT/non-SHH group 3		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 3	PMID:21163964|PMID:22722829|PMID:22820256|PMID:23184418|PMID:27993330|PMID:28726821|PMID:35489737
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0081255	posterior fossa group B ependymoma		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Posterior fossa group B ependymoma	PMID:27993330|PMID:28726821|PMID:30588243|PMID:34194626|PMID:34336928
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:1350607	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192917
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0111428	essential tremor 1		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:21280141|PMID:22126750|PMID:25741868|PMID:28492532|PMID:30107592
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:16199547|PMID:21280141|PMID:22126750|PMID:25741868|PMID:26938784|PMID:28492532|PMID:29450879|PMID:29453417|PMID:30107592
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:10283	prostate cancer		ISO	RGD:1350607	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:prostate gland (human)	PMID:24200674|REF_RGD_ID:9587761
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:10488	imperforate anus		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:25741868|PMID:27302555|PMID:28492532|PMID:32037394|PMID:37745857
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:10534	stomach cancer		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:26467025|PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1350607	D	RGD:9068941	20211119	RGD		protein:increased expression:stomach	PMID:30177394|REF_RGD_ID:150521710
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:1059	intellectual disability		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability	PMID:18414213|PMID:20711175|PMID:21280141|PMID:22126750|PMID:23320472|PMID:24728327|PMID:25741868|PMID:26366712|PMID:27302555|PMID:28492532|PMID:29450879|PMID:30107592|PMID:31846209|PMID:32037394|PMID:35101336|PMID:37745857
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:1059	intellectual disability		ISO	RGD:1350607	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Profound intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:18414213|PMID:20711175|PMID:21280141|PMID:22126750|PMID:23320472|PMID:25741868|PMID:26366712|PMID:27302555|PMID:28492532|PMID:29450879|PMID:30107592|PMID:31846209|PMID:32037394|PMID:35101336|PMID:37745857
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:1059	intellectual disability		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:21280141|PMID:22126750|PMID:25741868|PMID:26366712|PMID:27302555|PMID:28492532|PMID:29450879|PMID:30107592|PMID:32037394|PMID:35101336|PMID:37745857
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:10629	microphthalmia		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microphthalmia	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:10907	microcephaly		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:10941	intracranial aneurysm	susceptibility	ISO	RGD:1350607	D	RGD:9068941	20221013	RGD		DNA:SNP: :rs3782356(human)	PMID:30121816|REF_RGD_ID:155582216
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:10969	hemiplegia		ISO	RGD:1350607	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hemiplegia	PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:1115	sarcoma		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:11199	hypoparathyroidism		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoparathyroidism	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:11383	cryptorchidism		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:1143	exotropia		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Exotropia	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:11832	visual epilepsy		ISO	RGD:1350607	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:11836	clubfoot		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:26467025
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:12215	oligohydramnios		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anhydramnios	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:12270	coloboma		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorioretinal coloboma | ClinVar Annotator: match by term: Congenital ocular coloboma | ClinVar Annotator: match by term: coloboma	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:12336	male infertility		ISO	RGD:1350607	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19348672
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:12849	autistic disorder		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:20711175|PMID:22126750|PMID:25741868|PMID:26467025|PMID:27302555|PMID:28492532|PMID:31846209
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:12849	autistic disorder		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868|PMID:26467025|PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:1324	lung cancer		ISO	RGD:1350607	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:13620	patent foramen ovale		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25741868|PMID:26366712|PMID:28483418|PMID:30335158|PMID:35101336
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:1459	hypothyroidism		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:14784	olivopontocerebellar atrophy		ISO	RGD:1350607	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Olivopontocerebellar atrophy	PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:1520	colon carcinoma		ISO	RGD:1350607	D	RGD:9068941	20211119	RGD		protein:increased expression:colon	PMID:20433758|REF_RGD_ID:150523761
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:1570	ectropion		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectropion	PMID:25741868|PMID:30107592
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:1588	thrombocytopenia		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:1612	breast cancer		ISO	RGD:1350607	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:breast (human)	PMID:23754336|REF_RGD_ID:9588236
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:1657	ventricular septal defect		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect | ClinVar Annotator: match by term: ventricular septal defect	PMID:16199547|PMID:22126750|PMID:25741868|PMID:26938784|PMID:28492532|PMID:29453417
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:1682	congenital heart disease		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:1697	ichthyosis		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:1826	epilepsy		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:21280141|PMID:22126750|PMID:25741868|PMID:28492532|PMID:31883305|PMID:32135276|PMID:34570271
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:1827	generalized epilepsy		ISO	RGD:1350607	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:1909	melanoma		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:2340	craniosynostosis		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1350607	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dandy-Walker syndrome	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:2841	asthma		ISO	RGD:1350607	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:21671394|PMID:22126750|PMID:25741868|PMID:27302555|PMID:28492532|PMID:33616304
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1350607	D	RGD:8554872	20250422	ClinVar		ClinVar Annotator: match by term: Astrocytoma	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:3070	high grade glioma		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma | ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:24705251|PMID:27993330|PMID:28263318|PMID:28852847|PMID:28966033|PMID:35050747|PMID:40063504
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:3234	central nervous system lymphoma		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary central nervous system lymphoma	PMID:27993330
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:3459	breast carcinoma		ISO	RGD:1350607	D	RGD:9068941	20211119	RGD		protein:increased expression:cytoplasm, breast	PMID:20433758|REF_RGD_ID:150523761
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:3565	meningioma	disease_progression	ISO	RGD:1350607	D	RGD:9068941	20221013	RGD			PMID:26240495|REF_RGD_ID:155582218
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1350607	D	RGD:9068941	20211119	RGD			PMID:30177394|REF_RGD_ID:150521710
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1350607	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151357
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1350607	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:25151357|REF_RGD_ID:9588233
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1350607	D	RGD:9068941	20211119	RGD		mRNA:increased expression:esophagus	PMID:29532228|REF_RGD_ID:150521712
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:3907	lung squamous cell carcinoma	disease_progression	ISO	RGD:1350607	D	RGD:9068941	20211119	RGD			PMID:28177435|PMID:30885352|REF_RGD_ID:150523776|REF_RGD_ID:150523777
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1350607	D	RGD:9068941	20211119	RGD		DNA, protein:missense mutations, nonsense mutations, frameshift mutation, increased expression:lung	PMID:25112956|REF_RGD_ID:150523769
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1350607	D	RGD:9068941	20211119	RGD			PMID:29627316|PMID:33665490|REF_RGD_ID:150523767|REF_RGD_ID:150523771
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1350607	D	RGD:9068941	20211119	RGD		associated with familial adenomatous polyposis;DNA:missense mutations, nonsense mutation	PMID:32024448|REF_RGD_ID:150523759
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:4362	cervical cancer		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:4621	holoprosencephaly		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alobar holoprosencephaly	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:5041	esophageal cancer		ISO	RGD:1350607	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:540	strabismus		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1350607	D	RGD:9068941	20211119	RGD			PMID:28007623|PMID:29627316|REF_RGD_ID:150523766|REF_RGD_ID:150523767
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1350607	D	RGD:9068941	20211119	RGD		DNA:missense mutations, insertion/deletion:plasma	PMID:29748005|REF_RGD_ID:127285383
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:5409	lung small cell carcinoma	disease_progression	ISO	RGD:1350607	D	RGD:9068941	20211119	RGD			PMID:27873319|REF_RGD_ID:150523768
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:6000	congestive heart failure		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congestive heart failure	PMID:22126750|PMID:25741868|PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:630	genetic disease		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11526114|PMID:11573085|PMID:12482968|PMID:14608645|PMID:14699623|PMID:15161914|PMID:16199547|PMID:16603732|PMID:18414213|PMID:20711175|PMID:21280141|PMID:21658225|PMID:21671394|PMID:22048023|PMID:22126750|PMID:22304445|PMID:23045699|PMID:23320472|PMID:23913813|PMID:24550110|PMID:24633898|PMID:24728327|PMID:24739679|PMID:25142838|PMID:25741868|PMID:25972376|PMID:26049589|PMID:26194542|PMID:26300940|PMID:26320581|PMID:26898171|PMID:26938784|PMID:27302555|PMID:27411375|PMID:27568880|PMID:27573763|PMID:27618451|PMID:27778401|PMID:27991736|PMID:28256057|PMID:28295206|PMID:28492532|PMID:28884889|PMID:28884922|PMID:29453417|PMID:30107592|PMID:30266093|PMID:30459467|PMID:3067577|PMID:31727177|PMID:31846209|PMID:31883305|PMID:32037394|PMID:32135276|PMID:33461977|PMID:34232366|PMID:37745857|PMID:9285441
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:630	genetic disease		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11526114|PMID:11573085|PMID:12482968|PMID:14608645|PMID:14699623|PMID:15161914|PMID:16199547|PMID:16603732|PMID:20711175|PMID:21280141|PMID:21658225|PMID:21671394|PMID:22048023|PMID:22126750|PMID:22304445|PMID:23045699|PMID:23320472|PMID:23913813|PMID:24550110|PMID:24633898|PMID:25142838|PMID:25741868|PMID:25972376|PMID:26049589|PMID:26194542|PMID:26320581|PMID:26898171|PMID:26938784|PMID:27302555|PMID:27411375|PMID:27568880|PMID:27573763|PMID:27618451|PMID:27778401|PMID:27991736|PMID:28256057|PMID:28295206|PMID:28492532|PMID:28884889|PMID:28884922|PMID:29453417|PMID:30107592|PMID:30266093|PMID:30459467|PMID:3067577|PMID:31727177|PMID:31883305|PMID:32037394|PMID:32135276|PMID:34232366|PMID:34570271|PMID:37745857|PMID:9285441
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:674	cleft palate		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:16199547|PMID:21280141|PMID:22126750|PMID:25741868|PMID:26938784|PMID:28492532|PMID:29453417|PMID:30107592
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:8488	polyhydramnios		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:8541	Sezary's disease		ISO	RGD:1350607	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26551667
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:899	choledochal cyst		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bile duct cyst	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1350607	D	RGD:9068941	20211119	RGD		associated with stomach cancer	PMID:30177394|REF_RGD_ID:150521710
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:1350607	D	RGD:9068941	20221013	RGD		associated with colorectal cancer;DNA:mutations::	PMID:27875625|REF_RGD_ID:155582219
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9001031	Retrognathia		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:21280141|PMID:22126750|PMID:28492532|PMID:30107592
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9001255	Kabuki Syndrome 1		ISO	RGD:1350607	D	RGD:7240710	20191225	OMIM			
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9001255	Kabuki Syndrome 1		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: KABUKI SYNDROME 1 | ClinVar Annotator: match by term: KMT2D-Related Disorders | ClinVar Annotator: match by term: KMT2D-related condition | ClinVar Annotator: match by term: KMT2D-related disorders | ClinVar Annotator: match by term: Kabuki syndrome 1	PMID:16199547|PMID:17576681|PMID:18414213|PMID:20301500|PMID:20711175|PMID:2071175|PMID:21129726|PMID:21163964|PMID:21280141|PMID:21607748|PMID:21658225|PMID:21671394|PMID:21766738|PMID:21782149|PMID:21882399|PMID:22126750|PMID:22786791|PMID:23320472|PMID:23535010|PMID:23913813|PMID:24346842|PMID:24633898|PMID:24739679|PMID:24759409|PMID:25142838|PMID:25281733|PMID:25326635|PMID:25741868|PMID:25755104|PMID:25896430|PMID:25972376|PMID:26300940|PMID:26366712|PMID:26467025|PMID:26512256|PMID:26938784|PMID:27302555|PMID:27530205|PMID:27573763|PMID:27993330|PMID:28295206|PMID:28475860|PMID:28492532|PMID:28726821|PMID:28884922|PMID:28933623|PMID:28973083|PMID:28991257|PMID:29255178|PMID:29283410|PMID:29304373|PMID:29389947|PMID:29450879|PMID:29453417|PMID:29758562|PMID:30107592|PMID:30266093|PMID:30459467|PMID:30476936|PMID:30950893|PMID:31282990|PMID:31363182|PMID:31395954|PMID:31624253|PMID:31690835|PMID:31727177|PMID:31846209|PMID:31883305|PMID:31949313|PMID:32037394|PMID:32083401|PMID:32135276|PMID:32235386|PMID:32371413|PMID:32441320|PMID:32668765|PMID:32803813|PMID:33172502|PMID:33314698|PMID:33616304|PMID:33880452|PMID:34570271|PMID:34675602|PMID:35060672|PMID:35101336|PMID:35904121|PMID:35973905|PMID:36474027|PMID:36672956|PMID:37043208|PMID:37745857|PMID:37810849|PMID:37815018|PMID:38206414|PMID:3913813|PMID:39202303|PMID:40127276|PMID:9536098
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532|PMID:30107592
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9001510	Funnel Chest		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9001575	IRIS COLOBOMA		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iris coloboma	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9001722	Dysarthria		ISO	RGD:1350607	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9001934	Neonatal Sepsis		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal sepsis	PMID:21280141|PMID:22126750|PMID:28492532|PMID:30107592
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1350607	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9002720	Splenomegaly		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1350607	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cognitive impairment | ClinVar Annotator: match by term: cognitive impairment	PMID:25741868|PMID:26467025
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9002916	Hyperphagia		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9003133	Hypertelorism		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:21280141|PMID:22126750|PMID:25741868|PMID:27302555|PMID:28492532|PMID:30107592|PMID:32037394|PMID:37745857
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9003438	Branchial Cleft Anomalies		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRANCHIAL CLEFT ANOMALIES	PMID:22126750|PMID:22740433|PMID:22786791|PMID:25741868|PMID:27302555|PMID:28492532|PMID:29725259|PMID:31727177|PMID:32170002|PMID:34374989|PMID:36672956
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9003591	Telecanthus		ISO	RGD:1350607	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9003735	Splenic Hypoplasia		ISO	RGD:1350607	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Asplenia	PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9003816	Macrocephaly		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9004108	Fused Kidney		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9004240	Phyllodes Tumor		ISO	RGD:1350607	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437033
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:24633898|PMID:25363768|PMID:25741868|PMID:28492532|PMID:30107592|PMID:31785789|PMID:34011629|PMID:35982160
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9004507	Hirsutism		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:21280141|PMID:22126750|PMID:25741868|PMID:28492532|PMID:30107592
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9004538	Hearing Loss		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:27302555|PMID:28492532|PMID:32037394|PMID:37745857
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868|PMID:30107592
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9004883	Pilonidal Sinus		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cyst - pilonidal	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9004934	BILATERAL CLEFT LIP		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cleft lip	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9005077	Joint Instability		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:21280141|PMID:22126750|PMID:28492532|PMID:30107592
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:20711175|PMID:21280141|PMID:22126750|PMID:25741868|PMID:27302555|PMID:28492532|PMID:29450879|PMID:30107592|PMID:31846209
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:21280141|PMID:22126750|PMID:25741868|PMID:28492532|PMID:29450879|PMID:30107592
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9005616	Micrognathism		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9005985	Rubinstein Taybi like Syndrome		ISO	RGD:1350607	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rubinstein-Taybi syndrome-like	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9006086	Intervertebral Disc Displacement	severity	ISO	RGD:1350607	D	RGD:9068941	20221020	RGD			PMID:32599142|REF_RGD_ID:155598599
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9006194	Complement Component C1s Deficiency		ISO	RGD:1350607	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Complement component C1s deficiency	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:16199547|PMID:22126750|PMID:25741868|PMID:26938784|PMID:28492532|PMID:29453417
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9006778	Carotid Atherosclerosis	severity	ISO	RGD:1350607	D	RGD:9068941	20221013	RGD			PMID:26764138|REF_RGD_ID:155582215
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9006871	BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME		ISO	RGD:1350607	D	RGD:7240710	20230505	OMIM			
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9006871	BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME		ISO	RGD:1350607	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	PMID:12002153|PMID:16199547|PMID:18414213|PMID:21280141|PMID:21882399|PMID:22126750|PMID:24633898|PMID:25590979|PMID:25741868|PMID:26467025|PMID:26512256|PMID:27573763|PMID:28492532|PMID:30107592|PMID:30459467|PMID:31883305|PMID:31949313|PMID:32083401|PMID:32135276|PMID:34570271|PMID:35060672|PMID:35973905
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16199547|PMID:22126750|PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonary artery atresia	PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9007573	Flatfoot		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:26467025|PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies | ClinVar Annotator: match by term: multiple abnormalities	PMID:12482968|PMID:14608645|PMID:14699623|PMID:16603732|PMID:20711175|PMID:21280141|PMID:21658225|PMID:21671394|PMID:22126750|PMID:22304445|PMID:23320472|PMID:25972376|PMID:26049589|PMID:26194542|PMID:26898171|PMID:27568880|PMID:27573763|PMID:27778401|PMID:27991736|PMID:28256057|PMID:28295206|PMID:28492532|PMID:28884889|PMID:28884922|PMID:3067577|PMID:9285441
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9007661	Dwarfism		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:21280141|PMID:22126750|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30107592
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350607	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21280141|PMID:22126750|PMID:22434255|PMID:23913813|PMID:25142838|PMID:25741868|PMID:28492532|PMID:30107592|PMID:31883305|PMID:32135276|PMID:34570271
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9008189	Pyelectasis		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9008306	Common Ventricle		ISO	RGD:1350607	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Single ventricle	PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9008682	Velopharyngeal Insufficiency		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Velopharyngeal insufficiency	PMID:21280141|PMID:22126750|PMID:28492532|PMID:30107592
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1350607	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437033
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:28492532
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:903	gastrointestinal lymphoma	disease_progression	ISO	RGD:1350607	D	RGD:9068941	20211119	RGD			PMID:26722499|REF_RGD_ID:11553660
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nasopharyngeal carcinoma	PMID:27647909|PMID:27993330|PMID:28098136|PMID:28669924|PMID:28851814|PMID:34234122|PMID:35562651|PMID:36831585
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:93	language disorder		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:21280141|PMID:22126750|PMID:28492532|PMID:30107592
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:930	orbital disease		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1319223	D	RGD:9068941	20200609	RGD			PMID:23826075|REF_RGD_ID:9588237
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	PMID:25741868
8814366	Kmt2d	lysine methyltransferase 2D	gene	DOID:9970	obesity		ISO	RGD:1350607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:26467025
8814457	Dand5	DAN domain BMP antagonist family member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342724	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8814457	Dand5	DAN domain BMP antagonist family member 5	gene	DOID:0051027	visceral heterotaxy 13		ISO	RGD:1342724	D	RGD:7240710	20250205	OMIM			
8814457	Dand5	DAN domain BMP antagonist family member 5	gene	DOID:0051027	visceral heterotaxy 13		ISO	RGD:1342724	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 13, AUTOSOMAL	PMID:25741868
8814457	Dand5	DAN domain BMP antagonist family member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8814462	Clrn3	clarin 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8814483	LOC102017184	chromosome unknown open reading frame, human C10orf120	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8814490	Efcab2	EF-hand calcium binding domain 2	gene	DOID:0080600	COVID-19		ISO	RGD:1604261	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
8814490	Efcab2	EF-hand calcium binding domain 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8814490	Efcab2	EF-hand calcium binding domain 2	gene	DOID:1115	sarcoma		ISO	RGD:1604261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8814490	Efcab2	EF-hand calcium binding domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814490	Efcab2	EF-hand calcium binding domain 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8814490	Efcab2	EF-hand calcium binding domain 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8814490	Efcab2	EF-hand calcium binding domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8814490	Efcab2	EF-hand calcium binding domain 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:0110163	Charcot-Marie-Tooth disease axonal type 2F		ISO	RGD:732480	D	RGD:7240710	20180130	OMIM			
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:0110163	Charcot-Marie-Tooth disease axonal type 2F		ISO	RGD:732480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2F | ClinVar Annotator: match by term: HSPB1-related disorder	PMID:15122254|PMID:16087758|PMID:16155736|PMID:16199547|PMID:16215937|PMID:17576681|PMID:18325928|PMID:18344398|PMID:18832141|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21611841|PMID:21785432|PMID:21892769|PMID:21971574|PMID:21983720|PMID:22031878|PMID:22057845|PMID:22176143|PMID:22206013|PMID:22484489|PMID:22521462|PMID:22734906|PMID:23379525|PMID:23530264|PMID:23643870|PMID:23728742|PMID:23948568|PMID:23963299|PMID:24607769|PMID:24719117|PMID:25025039|PMID:25220807|PMID:25429913|PMID:25547330|PMID:25614874|PMID:25741868|PMID:25965061|PMID:25999205|PMID:26077850|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26752306|PMID:26989944|PMID:27492805|PMID:27816334|PMID:27830184|PMID:27862672|PMID:28000086|PMID:28018906|PMID:28077174|PMID:28144995|PMID:28286897|PMID:28379183|PMID:28492532|PMID:28595321|PMID:28702508|PMID:28717666|PMID:28797631|PMID:29031079|PMID:29048431|PMID:29184351|PMID:29330367|PMID:29381233|PMID:29547183|PMID:30373780|PMID:30669930|PMID:30758704|PMID:30842409|PMID:31573509|PMID:31919945|PMID:32298515|PMID:32301006|PMID:32323160|PMID:32334137|PMID:32376792|PMID:32397312|PMID:33509756|PMID:33686258|PMID:34190362|PMID:34354735|PMID:35297556|PMID:35328016|PMID:36291591|PMID:9536098
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:732480	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:22734906|PMID:25741868|PMID:28144995|PMID:33686258
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:0111206	autosomal dominant distal hereditary motor neuronopathy 2		ISO	RGD:732480	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2	PMID:18344398|PMID:18832141|PMID:21892769|PMID:23948568|PMID:25220807|PMID:25429913|PMID:25741868|PMID:26467025|PMID:27816334|PMID:28000086|PMID:28379183|PMID:28492532|PMID:28797631
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:0111207	autosomal dominant distal hereditary motor neuronopathy 3		ISO	RGD:732480	D	RGD:7240710	20180130	OMIM			
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:0111207	autosomal dominant distal hereditary motor neuronopathy 3		ISO	RGD:732480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IIB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2B	PMID:15122254|PMID:16087758|PMID:16155736|PMID:16215937|PMID:16368711|PMID:18325928|PMID:18344398|PMID:18832141|PMID:20178975|PMID:20660910|PMID:21785432|PMID:21892769|PMID:21971574|PMID:22031878|PMID:22176143|PMID:22484489|PMID:22734906|PMID:23379525|PMID:23530264|PMID:23643870|PMID:23728742|PMID:23948568|PMID:24607769|PMID:24719117|PMID:25025039|PMID:25220807|PMID:25429913|PMID:25741868|PMID:25965061|PMID:25999205|PMID:26077850|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26752306|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:28000086|PMID:28018906|PMID:28144995|PMID:28286897|PMID:28379183|PMID:28492532|PMID:28547731|PMID:28595321|PMID:28702508|PMID:28797631|PMID:28828227|PMID:29031079|PMID:29048431|PMID:29184351|PMID:29330367|PMID:29381233|PMID:29547183|PMID:29858556|PMID:30669930|PMID:30758704|PMID:31573509|PMID:32301006|PMID:32323160|PMID:32334137|PMID:32376792|PMID:33509756|PMID:33644875|PMID:33686258|PMID:35297556|PMID:36291591
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732480	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:11528513|PMID:12372593|PMID:15122254|PMID:16215937|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18344398|PMID:18832141|PMID:18952241|PMID:19435728|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21149811|PMID:21611841|PMID:21892769|PMID:21983720|PMID:22031878|PMID:22176143|PMID:22206013|PMID:22521462|PMID:22734906|PMID:23643870|PMID:23728742|PMID:23948568|PMID:23963299|PMID:24607769|PMID:25025039|PMID:25088881|PMID:25220807|PMID:25429913|PMID:25547330|PMID:25614874|PMID:25741868|PMID:25965061|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:27862672|PMID:28000086|PMID:28144995|PMID:28166811|PMID:28379183|PMID:28492532|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29381233|PMID:29547183|PMID:9536098
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732480	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:11528513|PMID:12372593|PMID:15122254|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18344398|PMID:18832141|PMID:18952241|PMID:19435728|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21149811|PMID:21611841|PMID:21892769|PMID:22031878|PMID:22176143|PMID:22206013|PMID:22521462|PMID:22734906|PMID:23643870|PMID:23948568|PMID:23963299|PMID:24607769|PMID:25025039|PMID:25088881|PMID:25429913|PMID:25547330|PMID:25614874|PMID:25741868|PMID:25965061|PMID:26141737|PMID:26467025|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:28000086|PMID:28144995|PMID:28379183|PMID:28492532|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29381233|PMID:29547183|PMID:32334137|PMID:32376792|PMID:32528171|PMID:9536098
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732480	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:11528513|PMID:12372593|PMID:15122254|PMID:16215937|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18344398|PMID:18587268|PMID:18832141|PMID:18952241|PMID:19435728|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21149811|PMID:21611841|PMID:21785432|PMID:21892769|PMID:21971574|PMID:21983720|PMID:22031878|PMID:22176143|PMID:22206013|PMID:22484489|PMID:22521462|PMID:22734906|PMID:23379525|PMID:23530264|PMID:23643870|PMID:23728742|PMID:23948568|PMID:23963299|PMID:24505562|PMID:24607769|PMID:24719117|PMID:25025039|PMID:25088881|PMID:25220807|PMID:25429913|PMID:25547330|PMID:25614874|PMID:25741868|PMID:25965061|PMID:25999205|PMID:26077850|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26752306|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:27862672|PMID:28000086|PMID:28077174|PMID:28105056|PMID:28106320|PMID:2814495|PMID:28144995|PMID:28379183|PMID:28492532|PMID:28518168|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29381233|PMID:29547183|PMID:30373780|PMID:30758704|PMID:31069529|PMID:31453292|PMID:31573509|PMID:31630804|PMID:32301006|PMID:32323160|PMID:32334137|PMID:32376792|PMID:32461654|PMID:33686258|PMID:33943041|PMID:35328016|PMID:9536098
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:15122254|PMID:16215937|PMID:17576681|PMID:18325928|PMID:18344398|PMID:18832141|PMID:18952241|PMID:20178975|PMID:20660910|PMID:21149811|PMID:21892769|PMID:21971574|PMID:21983720|PMID:22031878|PMID:22176143|PMID:22206013|PMID:22484489|PMID:22734906|PMID:23379525|PMID:23530264|PMID:23643870|PMID:23728742|PMID:23948568|PMID:24607769|PMID:24719117|PMID:25025039|PMID:25088881|PMID:25220807|PMID:25429913|PMID:25614874|PMID:25741868|PMID:25965061|PMID:25999205|PMID:26077850|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26752306|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:28000086|PMID:28018906|PMID:28106320|PMID:2814495|PMID:28144995|PMID:28379183|PMID:28492532|PMID:28518168|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29184351|PMID:29381233|PMID:29547183|PMID:30373780|PMID:30758704|PMID:31069529|PMID:31453292|PMID:31573509|PMID:32301006|PMID:32323160|PMID:32376792|PMID:32461654|PMID:33686258|PMID:35297556|PMID:9536098
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:61306	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:brainstem, astrocyte:	PMID:25772164|REF_RGD_ID:10402580
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:10762	portal hypertension		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Portal hypertension	PMID:12372593|PMID:15122254|PMID:20178975|PMID:21611841|PMID:22176143|PMID:22521462|PMID:24607769|PMID:25547330|PMID:25741868|PMID:26467025|PMID:26989944|PMID:28492532|PMID:38968664
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:1115	sarcoma	disease_progression	ISO	RGD:732480	D	RGD:9068941	20200609	RGD			PMID:21833720|REF_RGD_ID:10402768
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:11155	hypohidrosis		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:11830	myopia		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9527842
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal spinal muscular atrophy	PMID:18344398|PMID:18832141|PMID:21892769|PMID:23948568|PMID:25220807|PMID:25429913|PMID:25741868|PMID:26467025|PMID:27816334|PMID:28000086|PMID:28379183|PMID:28492532|PMID:28797631
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:732480	D	RGD:9068941	20200609	RGD		protein:increased expression:glomerulus, podocyte:	PMID:21931298|REF_RGD_ID:10402764
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:732480	D	RGD:9068941	20200609	RGD			PMID:21833720|REF_RGD_ID:10402768
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:1824	status epilepticus		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20971094
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:61306	D	RGD:9068941	20200609	RGD		protein:increased expression:brain,astrocyte:	PMID:10559386|REF_RGD_ID:10402577
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:2773	contact dermatitis		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:2841	asthma		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19381893
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:4362	cervical cancer		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:480	movement disease		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12878215
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:6000	congestive heart failure		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17481944
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:630	genetic disease		ISO	RGD:732480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15122254|PMID:16087758|PMID:16215937|PMID:17576681|PMID:18344398|PMID:18832141|PMID:20178975|PMID:20660910|PMID:21892769|PMID:22031878|PMID:23530264|PMID:23643870|PMID:23728742|PMID:23948568|PMID:24607769|PMID:25025039|PMID:25220807|PMID:25429913|PMID:25614874|PMID:25741868|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26752306|PMID:26989944|PMID:27816334|PMID:27830184|PMID:28000086|PMID:28018906|PMID:28144995|PMID:28286897|PMID:28379183|PMID:28492532|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29048431|PMID:29184351|PMID:29330367|PMID:29381233|PMID:29547183|PMID:30669930|PMID:32334137|PMID:32376792|PMID:33509756|PMID:35297556|PMID:36291591|PMID:9536098
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:732480	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:21417552|REF_RGD_ID:10402843
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:61306	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:spinal cord:	PMID:12098653|REF_RGD_ID:10402749
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:61306	D	RGD:9068941	20200903	RGD			PMID:30287503|REF_RGD_ID:38549580
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmia	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19424620
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9000307	Presbycusis		ISO	RGD:732481	D	RGD:9068941	20200609	RGD			PMID:24587312|REF_RGD_ID:10402574
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9000972	Fever		ISO	RGD:61306	D	RGD:9068941	20200609	RGD		protein:increased expression:glial cell	PMID:12834255|REF_RGD_ID:1304397
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:61306	D	RGD:9068941	20200609	RGD			PMID:11746764|REF_RGD_ID:6480530
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:61306	D	RGD:9068941	20200609	RGD			PMID:21310899|REF_RGD_ID:10402767
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9001733	Tinnitus		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:61306	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:glomerulus:	PMID:21931298|REF_RGD_ID:10402764
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:732480	D	RGD:9068941	20200609	RGD		protein:increased expression:glomerulus, podocyte:	PMID:21931298|REF_RGD_ID:10402764
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9002221	Hyperplasia		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864298
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:61306	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:15472083|REF_RGD_ID:10402769
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19193722
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9005077	Joint Instability		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19840781
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9007114	Mobility Limitation		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:18832141|PMID:23530264|PMID:23643870|PMID:23948568|PMID:24607769|PMID:25741868|PMID:26141737|PMID:26467025|PMID:26752306|PMID:26989944|PMID:27816334|PMID:27830184|PMID:28018906|PMID:28492532|PMID:28595321|PMID:28702508|PMID:29184351|PMID:29381233|PMID:29547183|PMID:35297556
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9007736	Vertigo		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9008691	Liver Injury		ISO	RGD:61306	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver,hepatocyte,macrophage:	PMID:22417648|REF_RGD_ID:10402770
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9538	multiple myeloma		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12855565
8814501	Hspb1	heat shock protein family B (small) member 1	gene	DOID:9834	hyperopia		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
8814507	Cog5	component of oligomeric golgi complex 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8814507	Cog5	component of oligomeric golgi complex 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8814507	Cog5	component of oligomeric golgi complex 5	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1319696	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
8814507	Cog5	component of oligomeric golgi complex 5	gene	DOID:0070261	congenital disorder of glycosylation type IIi		ISO	RGD:1319696	D	RGD:7240710	20180130	OMIM			
8814507	Cog5	component of oligomeric golgi complex 5	gene	DOID:0070261	congenital disorder of glycosylation type IIi		ISO	RGD:1319696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COG5-CDG | ClinVar Annotator: match by term: COG5-congenital disorder of glycosylation | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIi	PMID:16199547|PMID:17576681|PMID:23228021|PMID:23430875|PMID:24033266|PMID:25331899|PMID:25640679|PMID:25741868|PMID:28492532|PMID:28567303|PMID:28708303|PMID:29878199|PMID:31175295|PMID:31180159|PMID:32174980|PMID:33187827|PMID:33277529|PMID:9536098
8814507	Cog5	component of oligomeric golgi complex 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8814507	Cog5	component of oligomeric golgi complex 5	gene	DOID:1115	sarcoma		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8814507	Cog5	component of oligomeric golgi complex 5	gene	DOID:1909	melanoma		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8814507	Cog5	component of oligomeric golgi complex 5	gene	DOID:3070	high grade glioma		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:28492532
8814507	Cog5	component of oligomeric golgi complex 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8814507	Cog5	component of oligomeric golgi complex 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1319696	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8814507	Cog5	component of oligomeric golgi complex 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814507	Cog5	component of oligomeric golgi complex 5	gene	DOID:630	genetic disease		ISO	RGD:1319696	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8814507	Cog5	component of oligomeric golgi complex 5	gene	DOID:9006549	Enterovirus Infections		ISO	RGD:1319696	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28446605
8814507	Cog5	component of oligomeric golgi complex 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8814507	Cog5	component of oligomeric golgi complex 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8814507	Cog5	component of oligomeric golgi complex 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8814507	Cog5	component of oligomeric golgi complex 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8814556	Carns1	carnosine synthase 1	gene	DOID:1115	sarcoma		ISO	RGD:2301770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8814556	Carns1	carnosine synthase 1	gene	DOID:1909	melanoma		ISO	RGD:2301770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8814556	Carns1	carnosine synthase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2301770	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8814556	Carns1	carnosine synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2301770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814556	Carns1	carnosine synthase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2301770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8814556	Carns1	carnosine synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2301770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8814575	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8814575	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8814575	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1348930	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract	PMID:25741868|PMID:26026792|PMID:30143558
8814575	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1348930	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8814575	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8814575	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8814575	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1557733	D	RGD:9068941	20230323	MouseDO			
8814575	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8814575	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:1909	melanoma		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8814575	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1348930	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8814575	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8814575	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348930	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8814575	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8814575	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814575	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348930	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8814575	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:9003676	Brain Hypoxia-Ischemia	exacerbates	ISO	RGD:1566260	D	RGD:9068941	20230330	RGD			PMID:31356825|REF_RGD_ID:242905191
8814575	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:9006494	Follicular Thyroid Cancer		ISO	RGD:1348930	D	RGD:7240710	20180130	OMIM			
8814575	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:9006494	Follicular Thyroid Cancer		ISO	RGD:1348930	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SRGAP1-related condition | ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 2 | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2	PMID:25741868|PMID:28492532
8814575	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8814575	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8814575	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8814603	Ripk4	receptor interacting serine/threonine kinase 4	gene	DOID:0060055	popliteal pterygium syndrome		ISO	RGD:1323282	D	RGD:9068941	20260604	MouseDO		OMIM:119500 | OMIM:263650	
8814603	Ripk4	receptor interacting serine/threonine kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8814603	Ripk4	receptor interacting serine/threonine kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:1323281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8814603	Ripk4	receptor interacting serine/threonine kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814603	Ripk4	receptor interacting serine/threonine kinase 4	gene	DOID:630	genetic disease		ISO	RGD:1323281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8814603	Ripk4	receptor interacting serine/threonine kinase 4	gene	DOID:9001939	Bartsocas-Papas Syndrome 1		ISO	RGD:1323281	D	RGD:7240710	20180130	OMIM			
8814603	Ripk4	receptor interacting serine/threonine kinase 4	gene	DOID:9001939	Bartsocas-Papas Syndrome 1		ISO	RGD:1323281	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 1 | ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1	PMID:25741868|PMID:28492532
8814603	Ripk4	receptor interacting serine/threonine kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8814603	Ripk4	receptor interacting serine/threonine kinase 4	gene	DOID:9008620	Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome		ISO	RGD:1323281	D	RGD:7240710	20221207	OMIM			
8814603	Ripk4	receptor interacting serine/threonine kinase 4	gene	DOID:9008620	Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome		ISO	RGD:1323281	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHAND SYNDROME | ClinVar Annotator: match by term: RIPK4-related condition	PMID:25741868|PMID:28492532
8814618	Kcnd2	potassium voltage-gated channel subfamily D member 2	gene	DOID:1059	intellectual disability		ISO	RGD:68574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8814618	Kcnd2	potassium voltage-gated channel subfamily D member 2	gene	DOID:12849	autistic disorder		ISO	RGD:68574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
8814618	Kcnd2	potassium voltage-gated channel subfamily D member 2	gene	DOID:1826	epilepsy		ISO	RGD:68574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8814618	Kcnd2	potassium voltage-gated channel subfamily D member 2	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:68574	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Early myoclonic encephalopathy	PMID:17576681|PMID:19171772|PMID:24501278|PMID:28166811|PMID:28492532|PMID:29581270|PMID:9536098
8814618	Kcnd2	potassium voltage-gated channel subfamily D member 2	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:68574	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Early myoclonic encephalopathy	PMID:17576681|PMID:19171772|PMID:24501278|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29581270|PMID:9536098
8814618	Kcnd2	potassium voltage-gated channel subfamily D member 2	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:68574	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe	PMID:16199547|PMID:17576681|PMID:19171772|PMID:24501278|PMID:25214526|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29581270|PMID:30571183|PMID:9536098
8814618	Kcnd2	potassium voltage-gated channel subfamily D member 2	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:68574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Early Myoclonic Encephalopathy | ClinVar Annotator: match by term: Early myoclonic encephalopathy	PMID:16199547|PMID:17576681|PMID:19171772|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29581270|PMID:30571183|PMID:34245260|PMID:35897654|PMID:9536098
8814618	Kcnd2	potassium voltage-gated channel subfamily D member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:68574	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:34418280
8814618	Kcnd2	potassium voltage-gated channel subfamily D member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:68574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8814618	Kcnd2	potassium voltage-gated channel subfamily D member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814618	Kcnd2	potassium voltage-gated channel subfamily D member 2	gene	DOID:630	genetic disease		ISO	RGD:68574	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19171772|PMID:28492532|PMID:34245260|PMID:35897654
8814618	Kcnd2	potassium voltage-gated channel subfamily D member 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:68574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: KCND2 related neurodevelopmental disorder | ClinVar Annotator: match by term: KCND2-related neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:19171772|PMID:24501278|PMID:25741868|PMID:28492532|PMID:29581270|PMID:31130284|PMID:34245260|PMID:35510384
8814618	Kcnd2	potassium voltage-gated channel subfamily D member 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:68574	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:34418280
8814618	Kcnd2	potassium voltage-gated channel subfamily D member 2	gene	DOID:9004866	Ataxia		ISO	RGD:68574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:10729221|PMID:16934482|PMID:24501278|PMID:25214526|PMID:25741868
8814618	Kcnd2	potassium voltage-gated channel subfamily D member 2	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:68574	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:34418280
8814627	Batf2	basic leucine zipper ATF-like transcription factor 2	gene	DOID:0080600	COVID-19		ISO	RGD:1602989	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8814627	Batf2	basic leucine zipper ATF-like transcription factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1602989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8814627	Batf2	basic leucine zipper ATF-like transcription factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1602989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8814627	Batf2	basic leucine zipper ATF-like transcription factor 2	gene	DOID:1909	melanoma		ISO	RGD:1602989	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
8814627	Batf2	basic leucine zipper ATF-like transcription factor 2	gene	DOID:2957	pulmonary tuberculosis	disease_progression	ISO	RGD:1602989	D	RGD:9068941	20260314	RGD			PMID:29764370|REF_RGD_ID:640476623
8814627	Batf2	basic leucine zipper ATF-like transcription factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8814640	Kcnj16	potassium inwardly rectifying channel subfamily J member 16	gene	DOID:0050758	metabolic acidosis		ISO	RGD:61824	D	RGD:9068941	20201211	RGD		compared to SS/JrHsdMcwi	PMID:30605394|REF_RGD_ID:38500203
8814640	Kcnj16	potassium inwardly rectifying channel subfamily J member 16	gene	DOID:0050821	first-degree atrioventricular block		ISO	RGD:1343172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: First degree atrioventricular block	PMID:25741868
8814640	Kcnj16	potassium inwardly rectifying channel subfamily J member 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8814640	Kcnj16	potassium inwardly rectifying channel subfamily J member 16	gene	DOID:0110218	Brugada syndrome 1		ISO	RGD:1343172	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Brugada syndrome 1	PMID:25741868
8814640	Kcnj16	potassium inwardly rectifying channel subfamily J member 16	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1343172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:25741868
8814640	Kcnj16	potassium inwardly rectifying channel subfamily J member 16	gene	DOID:1115	sarcoma		ISO	RGD:1343172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8814640	Kcnj16	potassium inwardly rectifying channel subfamily J member 16	gene	DOID:1324	lung cancer		ISO	RGD:1343172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8814640	Kcnj16	potassium inwardly rectifying channel subfamily J member 16	gene	DOID:4500	hypokalemia		ISO	RGD:1343172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypokalemia	PMID:25741868
8814640	Kcnj16	potassium inwardly rectifying channel subfamily J member 16	gene	DOID:9003275	Hypokalemic Tubulopathy and Deafness		ISO	RGD:1343172	D	RGD:7240710	20210825	OMIM			
8814640	Kcnj16	potassium inwardly rectifying channel subfamily J member 16	gene	DOID:9003275	Hypokalemic Tubulopathy and Deafness		ISO	RGD:1343172	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPOKALEMIC TUBULOPATHY AND DEAFNESS | ClinVar Annotator: match by term: Hypokalemic tubulopathy and deafness	PMID:25741868
8814640	Kcnj16	potassium inwardly rectifying channel subfamily J member 16	gene	DOID:9008852	Respiratory Underresponsiveness to Hypoxia and Hypercapnia		ISO	RGD:61824	D	RGD:9068941	20201211	RGD		compared to SS/JrHsdMcwi	PMID:30605394|REF_RGD_ID:38500203
8814655	Tmem182	transmembrane protein 182	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8814655	Tmem182	transmembrane protein 182	gene	DOID:0080600	COVID-19		ISO	RGD:1604752	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8814655	Tmem182	transmembrane protein 182	gene	DOID:10534	stomach cancer		ISO	RGD:1604752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8814655	Tmem182	transmembrane protein 182	gene	DOID:1324	lung cancer		ISO	RGD:1604752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8814655	Tmem182	transmembrane protein 182	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814655	Tmem182	transmembrane protein 182	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604752	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8814655	Tmem182	transmembrane protein 182	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8814655	Tmem182	transmembrane protein 182	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8814655	Tmem182	transmembrane protein 182	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8814675	Scamp1	secretory carrier membrane protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8814675	Scamp1	secretory carrier membrane protein 1	gene	DOID:1115	sarcoma		ISO	RGD:731550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8814675	Scamp1	secretory carrier membrane protein 1	gene	DOID:1909	melanoma		ISO	RGD:731550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8814675	Scamp1	secretory carrier membrane protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:731550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8814675	Scamp1	secretory carrier membrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814675	Scamp1	secretory carrier membrane protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8814675	Scamp1	secretory carrier membrane protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8814675	Scamp1	secretory carrier membrane protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8814675	Scamp1	secretory carrier membrane protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8814675	Scamp1	secretory carrier membrane protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8814689	Fam174a	family with sequence similarity 174 member A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8814689	Fam174a	family with sequence similarity 174 member A	gene	DOID:4362	cervical cancer		ISO	RGD:1601696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8814689	Fam174a	family with sequence similarity 174 member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1601696	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8814689	Fam174a	family with sequence similarity 174 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814689	Fam174a	family with sequence similarity 174 member A	gene	DOID:6039	uveal melanoma		ISO	RGD:1601696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8814689	Fam174a	family with sequence similarity 174 member A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601696	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
8814696	Tal2	TAL bHLH transcription factor 2	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1351744	D	RGD:9068941	20200609	RGD			PMID:1763056|REF_RGD_ID:1599285
8814696	Tal2	TAL bHLH transcription factor 2	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1351744	D	RGD:7240710	20230505	OMIM			
8814717	Tmem62	transmembrane protein 62	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8814717	Tmem62	transmembrane protein 62	gene	DOID:10534	stomach cancer		ISO	RGD:1605041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8814717	Tmem62	transmembrane protein 62	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8814717	Tmem62	transmembrane protein 62	gene	DOID:1115	sarcoma		ISO	RGD:1605041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8814717	Tmem62	transmembrane protein 62	gene	DOID:1909	melanoma		ISO	RGD:1605041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8814717	Tmem62	transmembrane protein 62	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8814717	Tmem62	transmembrane protein 62	gene	DOID:3275	thymoma		ISO	RGD:1605041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8814717	Tmem62	transmembrane protein 62	gene	DOID:4362	cervical cancer		ISO	RGD:1605041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8814717	Tmem62	transmembrane protein 62	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814717	Tmem62	transmembrane protein 62	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8814717	Tmem62	transmembrane protein 62	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8814745	Rrh	retinal pigment epithelium-derived rhodopsin homolog	gene	DOID:0060058	lymphoma		ISO	RGD:1319017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8814745	Rrh	retinal pigment epithelium-derived rhodopsin homolog	gene	DOID:1115	sarcoma		ISO	RGD:1319017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8814745	Rrh	retinal pigment epithelium-derived rhodopsin homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1319017	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8814745	Rrh	retinal pigment epithelium-derived rhodopsin homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8814755	Orc2	origin recognition complex subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8814755	Orc2	origin recognition complex subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8814755	Orc2	origin recognition complex subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8814755	Orc2	origin recognition complex subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8814755	Orc2	origin recognition complex subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8814755	Orc2	origin recognition complex subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1323514	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8814755	Orc2	origin recognition complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814755	Orc2	origin recognition complex subunit 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8814755	Orc2	origin recognition complex subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8814755	Orc2	origin recognition complex subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8814755	Orc2	origin recognition complex subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8814755	Orc2	origin recognition complex subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8814755	Orc2	origin recognition complex subunit 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8814779	Rfk	riboflavin kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8814779	Rfk	riboflavin kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1313443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8814779	Rfk	riboflavin kinase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1313443	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21308351
8814790	Mettl17	methyltransferase like 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8814790	Mettl17	methyltransferase like 17	gene	DOID:10534	stomach cancer		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8814790	Mettl17	methyltransferase like 17	gene	DOID:1115	sarcoma		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8814790	Mettl17	methyltransferase like 17	gene	DOID:1324	lung cancer		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8814790	Mettl17	methyltransferase like 17	gene	DOID:4362	cervical cancer		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8814790	Mettl17	methyltransferase like 17	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8814790	Mettl17	methyltransferase like 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814790	Mettl17	methyltransferase like 17	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8814790	Mettl17	methyltransferase like 17	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8814790	Mettl17	methyltransferase like 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8814790	Mettl17	methyltransferase like 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8814790	Mettl17	methyltransferase like 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8814832	Nploc4	NPL4 homolog, ubiquitin recognition factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8814832	Nploc4	NPL4 homolog, ubiquitin recognition factor	gene	DOID:1115	sarcoma		ISO	RGD:735438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8814832	Nploc4	NPL4 homolog, ubiquitin recognition factor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8814832	Nploc4	NPL4 homolog, ubiquitin recognition factor	gene	DOID:5041	esophageal cancer		ISO	RGD:735438	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8814832	Nploc4	NPL4 homolog, ubiquitin recognition factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8814832	Nploc4	NPL4 homolog, ubiquitin recognition factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814832	Nploc4	NPL4 homolog, ubiquitin recognition factor	gene	DOID:6039	uveal melanoma		ISO	RGD:735438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8814832	Nploc4	NPL4 homolog, ubiquitin recognition factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8814832	Nploc4	NPL4 homolog, ubiquitin recognition factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:32387637
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344785	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:0111040	glycogen storage disease IXD		ISO	RGD:1344785	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: GSD IXd	PMID:10330341|PMID:12862311|PMID:23578772|PMID:25741868|PMID:27103379|PMID:28492532|PMID:28627441|PMID:31508908
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:0111042	glycogen storage disease IXa1		ISO	RGD:1344785	D	RGD:7240710	20180130	OMIM			
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:0111042	glycogen storage disease IXa1		ISO	RGD:1344785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE, TYPE IXa1 | ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE, TYPE IXa2 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar Annotator: match by term: Glycogen storage disease type IXa1 | ClinVar Annotator: match by term: LIVER GLYCOGENOSIS, X-LINKED, TYPE I | ClinVar Annotator: match by term: PHKA2-related condition	PMID:10330341|PMID:11286390|PMID:12862311|PMID:16199547|PMID:17576681|PMID:17689125|PMID:19763152|PMID:20307669|PMID:21634085|PMID:21646031|PMID:21857251|PMID:22406018|PMID:22899091|PMID:23578772|PMID:25070466|PMID:25266922|PMID:25741868|PMID:26944031|PMID:27103379|PMID:28085675|PMID:28283841|PMID:28492532|PMID:28600779|PMID:28627441|PMID:30659246|PMID:31248825|PMID:31508908|PMID:31700521|PMID:31832499|PMID:31987065|PMID:32244026|PMID:32387637|PMID:32772503|PMID:33014498|PMID:33763395|PMID:34093448|PMID:34117828|PMID:34946936|PMID:35257483|PMID:35854365|PMID:38619706|PMID:7711737|PMID:8733133|PMID:8733134|PMID:9536098|PMID:9600238|PMID:9835437|PMID:9870210
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:10534	stomach cancer		ISO	RGD:1344785	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:1324	lung cancer		ISO	RGD:1344785	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:1909	melanoma		ISO	RGD:1344785	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:2747	glycogen storage disease		ISO	RGD:1344785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glycogen storage disease	
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:2751	glycogen storage disease VIII		ISO	RGD:1344785	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE VIII | ClinVar Annotator: match by term: Glycogen storage disease 8 | ClinVar Annotator: match by term: Glycogen storage disease type VIII	PMID:10330341|PMID:12862311|PMID:17576681|PMID:23578772|PMID:25070466|PMID:25266922|PMID:25741868|PMID:27103379|PMID:28492532|PMID:28627441|PMID:31508908|PMID:31700521|PMID:32387637|PMID:34946936|PMID:8733133|PMID:8733134|PMID:9536098|PMID:9835437
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1344785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:4362	cervical cancer		ISO	RGD:1344785	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344785	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:630	genetic disease		ISO	RGD:1344785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10330341|PMID:12862311|PMID:17576681|PMID:23578772|PMID:25741868|PMID:27103379|PMID:28492532|PMID:28627441|PMID:31508908|PMID:9536098
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:9000590	Dyspnea		ISO	RGD:1344785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:10330341|PMID:12862311|PMID:23578772|PMID:25741868|PMID:27103379|PMID:28492532|PMID:28627441|PMID:31508908
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1344785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:10330341|PMID:12862311|PMID:23578772|PMID:25741868|PMID:27103379|PMID:28492532|PMID:28627441|PMID:31508908
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1344785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:17576681|PMID:28492532|PMID:9536098
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1344785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:10330341|PMID:12862311|PMID:17576681|PMID:23578772|PMID:25741868|PMID:27103379|PMID:28492532|PMID:28627441|PMID:31508908|PMID:9536098
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1344785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:10330341|PMID:12862311|PMID:23578772|PMID:25741868|PMID:27103379|PMID:28492532|PMID:28627441|PMID:31508908
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:10330341|PMID:12862311|PMID:23578772|PMID:25741868|PMID:27103379|PMID:28492532|PMID:28627441|PMID:31508908
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1344785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10330341|PMID:12862311|PMID:23578772|PMID:25741868|PMID:27103379|PMID:28492532|PMID:28627441|PMID:31508908
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:1344785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic hepatitis	PMID:10330341|PMID:12862311|PMID:23578772|PMID:25741868|PMID:27103379|PMID:28492532|PMID:28627441|PMID:31508908
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344785	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344785	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8814875	Phka2	phosphorylase kinase regulatory subunit alpha 2	gene	DOID:9993	hypoglycemia		ISO	RGD:1344785	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
8814943	Zbtb48	zinc finger and BTB domain containing 48	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8814943	Zbtb48	zinc finger and BTB domain containing 48	gene	DOID:3070	high grade glioma		ISO	RGD:1346774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8814943	Zbtb48	zinc finger and BTB domain containing 48	gene	DOID:4362	cervical cancer		ISO	RGD:1346774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8814943	Zbtb48	zinc finger and BTB domain containing 48	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8814943	Zbtb48	zinc finger and BTB domain containing 48	gene	DOID:5041	esophageal cancer		ISO	RGD:1346774	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8814943	Zbtb48	zinc finger and BTB domain containing 48	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814966	Rhce	Rh blood group CcEe antigens	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8814966	Rhce	Rh blood group CcEe antigens	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8814966	Rhce	Rh blood group CcEe antigens	gene	DOID:11372	megacolon		ISO	RGD:1604848	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
8814966	Rhce	Rh blood group CcEe antigens	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8814966	Rhce	Rh blood group CcEe antigens	gene	DOID:3070	high grade glioma		ISO	RGD:1604848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8814966	Rhce	Rh blood group CcEe antigens	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814966	Rhce	Rh blood group CcEe antigens	gene	DOID:589	congenital hemolytic anemia		ISO	RGD:1604848	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9657769
8814966	Rhce	Rh blood group CcEe antigens	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8814966	Rhce	Rh blood group CcEe antigens	gene	DOID:9003229	Rh-Null Disease, Amorph Type		ISO	RGD:1604848	D	RGD:7240710	20180905	OMIM			
8814966	Rhce	Rh blood group CcEe antigens	gene	DOID:9003229	Rh-Null Disease, Amorph Type		ISO	RGD:1604848	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RH-NULL, AMORPH TYPE	
8814966	Rhce	Rh blood group CcEe antigens	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8814984	Ppef1	protein phosphatase with EF-hand domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8814984	Ppef1	protein phosphatase with EF-hand domain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8814984	Ppef1	protein phosphatase with EF-hand domain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8814984	Ppef1	protein phosphatase with EF-hand domain 1	gene	DOID:1115	sarcoma		ISO	RGD:1606579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8814984	Ppef1	protein phosphatase with EF-hand domain 1	gene	DOID:1324	lung cancer		ISO	RGD:1606579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8814984	Ppef1	protein phosphatase with EF-hand domain 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8814984	Ppef1	protein phosphatase with EF-hand domain 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8814984	Ppef1	protein phosphatase with EF-hand domain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8814984	Ppef1	protein phosphatase with EF-hand domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8814984	Ppef1	protein phosphatase with EF-hand domain 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8814984	Ppef1	protein phosphatase with EF-hand domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815012	Tmem175	transmembrane protein 175	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8815012	Tmem175	transmembrane protein 175	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815012	Tmem175	transmembrane protein 175	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8815012	Tmem175	transmembrane protein 175	gene	DOID:1115	sarcoma		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8815012	Tmem175	transmembrane protein 175	gene	DOID:1324	lung cancer		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8815012	Tmem175	transmembrane protein 175	gene	DOID:1909	melanoma		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8815012	Tmem175	transmembrane protein 175	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8815012	Tmem175	transmembrane protein 175	gene	DOID:4362	cervical cancer		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8815012	Tmem175	transmembrane protein 175	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8815012	Tmem175	transmembrane protein 175	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815012	Tmem175	transmembrane protein 175	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815012	Tmem175	transmembrane protein 175	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8815012	Tmem175	transmembrane protein 175	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732177	D	RGD:9068941	20220825	MouseDO			
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:0050909	extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue		ISO	RGD:732176	D	RGD:9068941	20220428	RGD		protein:increased expression: mucosa-associated lymphoid tissue (human)	PMID:27544389|REF_RGD_ID:152023632
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:0060284	paroxysmal nocturnal hemoglobinuria	treatment	ISO	RGD:732176	D	RGD:9068941	20200609	RGD			PMID:22206707|REF_RGD_ID:11352266
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:0060591	WHIM syndrome 1		ISO	RGD:732176	D	RGD:7240710	20180130	OMIM			
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:0060591	WHIM syndrome 1		ISO	RGD:732176	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1	PMID:12692554|PMID:15026312|PMID:15536153|PMID:16275383|PMID:17803866|PMID:19043667|PMID:19321197|PMID:19476565|PMID:19956569|PMID:20472031|PMID:20736454|PMID:21070597|PMID:21835955|PMID:22596258|PMID:22748845|PMID:23009155|PMID:23734232|PMID:23794067|PMID:24139496|PMID:25571909|PMID:25662009|PMID:25741868|PMID:27059040|PMID:28353164|PMID:28492532|PMID:29659363|PMID:30819232|PMID:31313072|PMID:31493092|PMID:32870250|PMID:33485325|PMID:34697698|PMID:35493524|PMID:35947323|PMID:36089616|PMID:36883568|PMID:38286463|PMID:39575248
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:0060901	lymphoplasmacytic lymphoma	disease_progression	ISO	RGD:732176	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:1013C>G(p.S338X)(human)	PMID:24711662|REF_RGD_ID:11352304
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:0080199	colorectal carcinoma	disease_progression	ISO	RGD:732176	D	RGD:9068941	20220422	RGD		mRNA,protein:increased expression:colorectum (human)	PMID:18803056|REF_RGD_ID:151893518
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:0080600	COVID-19		ISO	RGD:732176	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:memory B cells (human)	PMID:32377375|REF_RGD_ID:32716422
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:10283	prostate cancer	ameliorates	ISO	RGD:732176	D	RGD:9068941	20220429	RGD		human cells in mouse model	PMID:30537000|REF_RGD_ID:152025215
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:10534	stomach cancer	ameliorates	ISO	RGD:732176	D	RGD:9068941	20220428	RGD		human cells in mouse model	PMID:27007162|REF_RGD_ID:152023648
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:732176	D	RGD:9068941	20220318	RGD		human cells in mouse model	PMID:28544312|REF_RGD_ID:151665321
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:732176	D	RGD:9068941	20220422	RGD		mRNA:increased expression:stomach (human)	PMID:21633638|REF_RGD_ID:152023624
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:732176	D	RGD:9068941	20220428	RGD		protein:increased expression:stomach (human)	PMID:19148483|PMID:25368239|REF_RGD_ID:152023608|REF_RGD_ID:152023660
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:11476	osteoporosis		ISO	RGD:732176	D	RGD:9068941	20200609	RGD			PMID:29882473|REF_RGD_ID:14700776
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:11664	nephrosclerosis		ISO	RGD:732176	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30818366
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:1993	rectum cancer	exacerbates	ISO	RGD:732176	D	RGD:9068941	20220422	RGD		protein:increased expression:rectum (human)	PMID:24375277|REF_RGD_ID:152023614
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:2596	larynx cancer	exacerbates	ISO	RGD:732176	D	RGD:9068941	20220512	RGD		protein:increased expression: mucosa of larynx (human)	PMID:23259294|REF_RGD_ID:152177474
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:2600	laryngeal carcinoma	disease_progression	ISO	RGD:732176	D	RGD:9068941	20220506	RGD		protein:increased expression:larynx (human)	PMID:16494043|REF_RGD_ID:152025548
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:620465	D	RGD:9068941	20200609	RGD			PMID:28104461|REF_RGD_ID:13463105
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:3347	osteosarcoma	ameliorates	ISO	RGD:732176	D	RGD:9068941	20220506	RGD		human cells in mouse model	PMID:31571016|REF_RGD_ID:152025557
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:732176	D	RGD:9068941	20220428	RGD		protein:increased expression:esophagus squamous epithelium (human)	PMID:17171785|REF_RGD_ID:152023646
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:3753	Hermansky-Pudlak syndrome	disease_progression	ISO	RGD:732176	D	RGD:9068941	20200609	RGD			PMID:25347450|REF_RGD_ID:11352293
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:732176	D	RGD:9068941	20220428	RGD		protein:increased expression:lung (human)	PMID:22977534|REF_RGD_ID:152023747
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:732176	D	RGD:9068941	20220428	RGD		protein:increased expression:lung (human)	PMID:30103827|REF_RGD_ID:152023735
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:732176	D	RGD:9068941	20220512	RGD		mRNA:increased expression:lung (human)	PMID:19716197|REF_RGD_ID:152177480
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732176	D	RGD:9068941	20200609	RGD			PMID:21448932|REF_RGD_ID:11352272
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732176	D	RGD:9068941	20230128	RGD		mRNA:increased expression:kidney:	PMID:29218250|REF_RGD_ID:155804290
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:4531	mucoepidermoid carcinoma	disease_progression	ISO	RGD:732176	D	RGD:9068941	20220422	RGD		protein:increased expression:saliva-secreting gland (human)	PMID:28772134|REF_RGD_ID:152023620
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:5241	hemangioblastoma		ISO	RGD:732176	D	RGD:9068941	20221110	RGD		mRNA,protein:increased expression:temporal lobe :	PMID:27388534|REF_RGD_ID:155641257
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:5603	T-cell acute lymphoblastic leukemia	treatment	ISO	RGD:732176	D	RGD:9068941	20200609	RGD			PMID:26931577|REF_RGD_ID:11352292
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:6000	congestive heart failure		ISO	RGD:732177	D	RGD:9068941	20220825	MouseDO			
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:732176	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:25741868
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:615	leukopenia	treatment	ISO	RGD:732176	D	RGD:9068941	20200609	RGD		associated with WHIM Syndrome; DNA:nonsense mutation: cds:p.R334X(human)	PMID:21890643|REF_RGD_ID:6480654
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:630	genetic disease		ISO	RGD:732176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:620465	D	RGD:9068941	20200723	RGD			PMID:21294880|REF_RGD_ID:6480473
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:732176	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504|PMID:26387944
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:732176	D	RGD:9068941	20220318	RGD		protein:increased expression:liver (human)	PMID:30034941|REF_RGD_ID:151665331
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:732176	D	RGD:9068941	20220318	RGD		human cells in mouse model	PMID:33574707|REF_RGD_ID:151665327
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:732176	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19192274
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:8577	ulcerative colitis		ISO	RGD:732176	D	RGD:9068941	20200609	RGD		mRNA:increased expression:peripheral blood immature plasma cells	PMID:21087446|REF_RGD_ID:6480657
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:732176	D	RGD:9068941	20220422	RGD		associated with nasopharynx carcinoma; protein:increased expression:lymph node (human)	PMID:16000558|REF_RGD_ID:151893515
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:732176	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21312072|PMID:23743303
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:732176	D	RGD:9068941	20220512	RGD		associated with Otorhinolaryngologic Neoplasms;mRNA,protein:increased expression:Laryngeal and hypopharyngeal tissue (human)	PMID:18487224|REF_RGD_ID:152177478
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:732176	D	RGD:9068941	20220512	RGD		associated with lung non-small cell carcinoma; protein:increased expression:lung (human)	PMID:28000861|REF_RGD_ID:152177476
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:732176	D	RGD:9068941	20220512	RGD		associated with lung non-small cell carcinoma;mRNA,protein:increased expression:lung (human)	PMID:16322285|REF_RGD_ID:152177479
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9000965	Neoplasm Metastasis	ameliorates	ISO	RGD:732176	D	RGD:9068941	20220428	RGD		associated with lung cancer; human cells in mouse model	PMID:32037613|REF_RGD_ID:151708730
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9000965	Neoplasm Metastasis	ameliorates	ISO	RGD:732176	D	RGD:9068941	20220428	RGD		human cells in mouse model;associated with lung cancer	PMID:25504108|REF_RGD_ID:152023741
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9000965	Neoplasm Metastasis	ameliorates	ISO	RGD:732176	D	RGD:9068941	20220512	RGD		associated with oral squamous cell carcinoma	PMID:17634424|REF_RGD_ID:152177475
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9000965	Neoplasm Metastasis	ameliorates	ISO	RGD:732177	D	RGD:9068941	20220506	RGD		associated with pancreatic cancer	PMID:16230077|REF_RGD_ID:152025556
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:732176	D	RGD:9068941	20220428	RGD		associated with lung non-small cell carcinoma; protein:increased expression:lung (human)	PMID:24932250|REF_RGD_ID:152023745
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9000965	Neoplasm Metastasis	severity	ISO	RGD:732176	D	RGD:9068941	20220428	RGD		associated with osteosarcoma;protein:increased expression:bone (human)	PMID:26546437|REF_RGD_ID:152023746
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:732176	D	RGD:9068941	20200609	RGD		mRNA:increased expression:gingival tissues	PMID:21382035|REF_RGD_ID:6480655
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9002138	Spinal Cord Reperfusion Injury		ISO	RGD:620465	D	RGD:9068941	20200609	RGD			PMID:27760212|REF_RGD_ID:12910551
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9002211	Hyperalgesia		ISO	RGD:620465	D	RGD:9068941	20200609	RGD			PMID:28638088|REF_RGD_ID:13838657
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:620465	D	RGD:9068941	20200609	RGD			PMID:30142543|REF_RGD_ID:13838658
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9002676	Cerebral Hemorrhage	treatment	ISO	RGD:620465	D	RGD:9068941	20200609	RGD			PMID:24955809|REF_RGD_ID:11352686
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:732176	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25753200
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9004715	WHIM Syndrome		ISO	RGD:732176	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: WHIM SYNDROME | ClinVar Annotator: match by term: WHIM syndrome | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis	PMID:10400757|PMID:11408611|PMID:12692554|PMID:15026312|PMID:15536153|PMID:16275383|PMID:16899028|PMID:17803866|PMID:19043667|PMID:19476565|PMID:19956569|PMID:20472031|PMID:20736454|PMID:21070597|PMID:22748845|PMID:23009155|PMID:23794067|PMID:24912431|PMID:25571909|PMID:25662009|PMID:25741868|PMID:28353164|PMID:28492532|PMID:29659363|PMID:30819232|PMID:31313072|PMID:31493092|PMID:32784523|PMID:33240318|PMID:35101336|PMID:35947323|PMID:36089616
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9004771	Vascular Remodeling	treatment	ISO	RGD:620465	D	RGD:9068941	20210820	RGD			PMID:21294880|REF_RGD_ID:6480473
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9005936	Gastro-Enteropancreatic Neuroendocrine Tumor	severity	ISO	RGD:732176	D	RGD:9068941	20220422	RGD		protein:increased expression:colon (human)	PMID:26259237|REF_RGD_ID:11530617
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9005968	Neuralgia		ISO	RGD:732176	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17292584
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9006102	Right Ventricular Hypertrophy	treatment	ISO	RGD:620465	D	RGD:9068941	20210820	RGD			PMID:21294880|REF_RGD_ID:6480473
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9006618	Liver Metastasis	ameliorates	ISO	RGD:732176	D	RGD:9068941	20220421	RGD		associated with colorectal cancer; human cells in mouse model	PMID:30789971|REF_RGD_ID:151893289
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9006618	Liver Metastasis	ameliorates	ISO	RGD:732176	D	RGD:9068941	20220428	RGD		human cells in mouse model; associated with colorectal cancer	PMID:29436696|REF_RGD_ID:152023643
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9006796	Gastrointestinal Neoplasms	ameliorates	ISO	RGD:732176	D	RGD:9068941	20220428	RGD			PMID:15994964|REF_RGD_ID:152023654
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9007482	Bone Metastasis	disease_progression	ISO	RGD:732176	D	RGD:9068941	20220428	RGD		associated with hepatocellular carcinoma;protein:increased expression:liver (human)	PMID:19508713|REF_RGD_ID:152023653
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:732176	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23743303
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9008104	Cancer Pain		ISO	RGD:620465	D	RGD:9068941	20200609	RGD			PMID:28638088|REF_RGD_ID:13838657
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9008104	Cancer Pain		ISO	RGD:620465	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:spinal cord:	PMID:28108674|REF_RGD_ID:13463594
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9008763	Femoral Fractures		ISO	RGD:620465	D	RGD:9068941	20200609	RGD			PMID:25181476|REF_RGD_ID:11352664
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732176	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25753200
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9009121	lung metastasis	ameliorates	ISO	RGD:732176	D	RGD:9068941	20220421	RGD		associated with colorectal cancer; human cells in mouse model	PMID:31938138|REF_RGD_ID:151665329
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9009121	lung metastasis	ameliorates	ISO	RGD:732176	D	RGD:9068941	20220422	RGD		associated with nasopharynx carcinoma; human cells in mouse model	PMID:16000558|REF_RGD_ID:151893515
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9009121	lung metastasis	ameliorates	ISO	RGD:732177	D	RGD:9068941	20220428	RGD			PMID:26498029|REF_RGD_ID:152023752
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9009121	lung metastasis	ameliorates	ISO	RGD:732177	D	RGD:9068941	20220512	RGD		associated with osteosarcoma and melanoma	PMID:18071913|REF_RGD_ID:152177473
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:732176	D	RGD:9068941	20200609	RGD			PMID:24035716|REF_RGD_ID:11352273
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9119	acute myeloid leukemia	treatment	ISO	RGD:732176	D	RGD:9068941	20200609	RGD			PMID:26031918|REF_RGD_ID:11352265
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9256	colorectal cancer		ISO	RGD:732176	D	RGD:9068941	20220318	RGD		mRNA:increased expression:colonic epithelium (human)	PMID:32110952|REF_RGD_ID:151665323
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9256	colorectal cancer		ISO	RGD:732176	D	RGD:9068941	20220415	RGD		human cells in mouse model; protein:increased expression:colorectum (human)	PMID:29481800|REF_RGD_ID:151708721
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9256	colorectal cancer	ameliorates	ISO	RGD:732176	D	RGD:9068941	20220422	RGD		human cells in mouse model	PMID:33617803|REF_RGD_ID:151893498
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:732176	D	RGD:9068941	20220421	RGD		mRNA:increased expression:colorectum (human)	PMID:28739729|PMID:33429333|REF_RGD_ID:151665332|REF_RGD_ID:151709000
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:732176	D	RGD:9068941	20220421	RGD		protein:increased expression:blood serum (human)	PMID:27330310|REF_RGD_ID:151708720
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:732176	D	RGD:9068941	20220421	RGD		mRNA,protein:increased expression:colon (human)	PMID:29719205|REF_RGD_ID:151893497
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:732176	D	RGD:9068941	20220415	RGD		protein:increased expression:colorectum (human)	PMID:28515923|REF_RGD_ID:151708726
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:732176	D	RGD:9068941	20220428	RGD		mRNA:increased expression:colon (human)	PMID:15837989|REF_RGD_ID:152023657
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9261	nasopharynx carcinoma	disease_progression	ISO	RGD:732176	D	RGD:9068941	20220428	RGD		mRNA:increased expression:nasopharynx (human)	PMID:26611644|REF_RGD_ID:152023644
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9261	nasopharynx carcinoma	exacerbates	ISO	RGD:732176	D	RGD:9068941	20220512	RGD		protein:increased expression:nasopharynx (human)	PMID:15978137|REF_RGD_ID:152177484
8815049	Cxcr4	C-X-C motif chemokine receptor 4	gene	DOID:9970	obesity		ISO	RGD:732177	D	RGD:9068941	20200609	RGD			PMID:25016030|REF_RGD_ID:13673852
8815055	Lmod3	leiomodin 3	gene	DOID:0110931	nemaline myopathy 10		ISO	RGD:1603025	D	RGD:7240710	20180130	OMIM			
8815055	Lmod3	leiomodin 3	gene	DOID:0110931	nemaline myopathy 10		ISO	RGD:1603025	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LMOD3-related condition | ClinVar Annotator: match by term: NEMALINE MYOPATHY 10 | ClinVar Annotator: match by term: Nemaline myopathy 10	PMID:17576681|PMID:25250574|PMID:25741868|PMID:28492532|PMID:29758562|PMID:29923248|PMID:30291184|PMID:30642739|PMID:31428121|PMID:32008911|PMID:35299092|PMID:37956287|PMID:9536098
8815055	Lmod3	leiomodin 3	gene	DOID:630	genetic disease		ISO	RGD:1603025	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8815055	Lmod3	leiomodin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815066	Prx	periaxin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8815066	Prx	periaxin	gene	DOID:0050538	Charcot-Marie-Tooth disease type 1		ISO	RGD:1351983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I	PMID:15197604|PMID:16770524|PMID:22847150|PMID:26059842|PMID:28492532
8815066	Prx	periaxin	gene	DOID:0050540	Charcot-Marie-Tooth disease type 3		ISO	RGD:1351983	D	RGD:7240710	20180425	OMIM			
8815066	Prx	periaxin	gene	DOID:0050540	Charcot-Marie-Tooth disease type 3		ISO	RGD:1351983	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 3 | ClinVar Annotator: match by term: Dejerine-Sottas disease	PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16770524|PMID:20301641|PMID:21079185|PMID:22847150|PMID:24033266|PMID:24078732|PMID:25628743|PMID:25741868|PMID:26059842|PMID:26467025|PMID:28492532|PMID:32376792|PMID:34476298
8815066	Prx	periaxin	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1351983	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16199547|PMID:16770524|PMID:17576681|PMID:18410371|PMID:19837996|PMID:21079185|PMID:21741241|PMID:21840889|PMID:22847150|PMID:24011642|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25628743|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:27862672|PMID:28492532|PMID:28708278|PMID:28902413|PMID:29858556|PMID:30724636|PMID:31372974|PMID:31523542|PMID:31673878|PMID:9536098
8815066	Prx	periaxin	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1351983	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy	PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16199547|PMID:16770524|PMID:17576681|PMID:18410371|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21741241|PMID:21840889|PMID:22847150|PMID:23056405|PMID:24011642|PMID:24033266|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25628743|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:27854218|PMID:27862672|PMID:28492532|PMID:28708278|PMID:28902413|PMID:29623298|PMID:29858556|PMID:30724636|PMID:31372974|PMID:31523542|PMID:31673878|PMID:32376792|PMID:32460404|PMID:32665875|PMID:9536098
8815066	Prx	periaxin	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1351983	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy	PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16199547|PMID:16770524|PMID:17576681|PMID:18410371|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21741241|PMID:21840889|PMID:22847150|PMID:23056405|PMID:24011642|PMID:24033266|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25628743|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:2758284|PMID:27862672|PMID:28492532|PMID:28708278|PMID:28902413|PMID:29623298|PMID:29858556|PMID:30724636|PMID:31372974|PMID:31523542|PMID:31673878|PMID:32085570|PMID:32376792|PMID:32453099|PMID:32460404|PMID:32665875|PMID:34476298|PMID:35509735|PMID:9536098
8815066	Prx	periaxin	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1351983	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy	PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16199547|PMID:16770524|PMID:17576681|PMID:18410371|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21741241|PMID:21840889|PMID:22847150|PMID:23056405|PMID:24011642|PMID:24033266|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25628743|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:2758284|PMID:27862672|PMID:28492532|PMID:28708278|PMID:28902413|PMID:29623298|PMID:29858556|PMID:30724636|PMID:31372974|PMID:31523542|PMID:31664448|PMID:31673878|PMID:32085570|PMID:32376792|PMID:32453099|PMID:32460404|PMID:32665875|PMID:34476298|PMID:35509735|PMID:36413997|PMID:9536098
8815066	Prx	periaxin	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1351983	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16199547|PMID:16770524|PMID:17576681|PMID:18410371|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21741241|PMID:21840889|PMID:22847150|PMID:23056405|PMID:24011642|PMID:24033266|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25628743|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:2758284|PMID:27862672|PMID:28492532|PMID:28708278|PMID:28902413|PMID:29623298|PMID:29858556|PMID:30724636|PMID:31372974|PMID:31523542|PMID:31664448|PMID:31673878|PMID:32085570|PMID:32376792|PMID:32453099|PMID:32460404|PMID:32665875|PMID:34476298|PMID:35509735|PMID:36413997|PMID:36833258|PMID:9536098
8815066	Prx	periaxin	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1351983	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16199547|PMID:16770524|PMID:17576681|PMID:18410371|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21741241|PMID:21840889|PMID:22847150|PMID:23056405|PMID:24011642|PMID:24033266|PMID:24078732|PMID:24123366|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25628743|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:2758284|PMID:27862672|PMID:28050010|PMID:28492532|PMID:28708278|PMID:28902413|PMID:28945198|PMID:28979898|PMID:29623298|PMID:29858556|PMID:30724636|PMID:31372974|PMID:31523542|PMID:31664448|PMID:31673878|PMID:32085570|PMID:32376792|PMID:32453099|PMID:32460404|PMID:32665875|PMID:34476298|PMID:35509735|PMID:36413997|PMID:36833258|PMID:37091313|PMID:9536098
8815066	Prx	periaxin	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1351983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV	PMID:11133365|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16199547|PMID:16770524|PMID:17576681|PMID:18410371|PMID:21079185|PMID:21840889|PMID:22847150|PMID:23056405|PMID:24033266|PMID:24078732|PMID:24627108|PMID:25025039|PMID:25164601|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:2758284|PMID:27862672|PMID:28492532|PMID:28708278|PMID:28902413|PMID:29858556|PMID:31372974|PMID:31523542|PMID:31827005|PMID:32085570|PMID:32376792|PMID:32453099|PMID:32460404|PMID:33875678|PMID:34476298|PMID:35509735|PMID:36833258|PMID:37091313|PMID:9536098
8815066	Prx	periaxin	gene	DOID:0050581	brachydactyly		ISO	RGD:1351983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:26467025|PMID:2758284|PMID:28492532|PMID:31523542|PMID:32085570|PMID:32376792|PMID:32453099|PMID:35509735|PMID:37091313
8815066	Prx	periaxin	gene	DOID:0060243	stuttering		ISO	RGD:1351983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stuttering	PMID:25741868|PMID:26467025|PMID:2758284|PMID:28492532|PMID:31523542|PMID:32085570|PMID:32376792|PMID:32453099|PMID:35509735|PMID:37091313
8815066	Prx	periaxin	gene	DOID:0080288	spinocerebellar ataxia 46		ISO	RGD:21073147	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, 46, AUTOSOMAL DOMINANT, WITH SENSORY AXONAL NEUROPATHY	PMID:25741868|PMID:28492532
8815066	Prx	periaxin	gene	DOID:0110193	Charcot-Marie-Tooth disease type 4F		ISO	RGD:1351983	D	RGD:7240710	20180130	OMIM			
8815066	Prx	periaxin	gene	DOID:0110193	Charcot-Marie-Tooth disease type 4F		ISO	RGD:1351983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4f | ClinVar Annotator: match by term: PRX-related condition	PMID:11133365|PMID:15197604|PMID:16534116|PMID:16770524|PMID:18504680|PMID:21079185|PMID:22847150|PMID:24033266|PMID:24078732|PMID:25025039|PMID:25164601|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:2758284|PMID:28492532|PMID:31372974|PMID:31523542|PMID:31827005|PMID:32085570|PMID:32214227|PMID:32376792|PMID:32453099|PMID:33875678|PMID:34476298|PMID:35509735|PMID:36833258|PMID:37091313
8815066	Prx	periaxin	gene	DOID:0110958	Gaucher's disease type II		ISO	RGD:1351983	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Acute cerebral Gaucher disease	PMID:11133365|PMID:25614874|PMID:28492532|PMID:36833258
8815066	Prx	periaxin	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1351983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25025039|PMID:25741868|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:32376792|PMID:33875678|PMID:37091313
8815066	Prx	periaxin	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1351983	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16534116|PMID:16770524|PMID:18410371|PMID:18504680|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21326314|PMID:21741241|PMID:21840889|PMID:22847150|PMID:24011642|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25044680|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:30724636|PMID:31523542|PMID:32376792
8815066	Prx	periaxin	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1351983	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia	PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16534116|PMID:16770524|PMID:18410371|PMID:18504680|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21326314|PMID:21741241|PMID:21840889|PMID:22847150|PMID:23056405|PMID:24011642|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25044680|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:2758284|PMID:28492532|PMID:29623298|PMID:30724636|PMID:31523542|PMID:32085570|PMID:32376792|PMID:32453099|PMID:32460404|PMID:35509735
8815066	Prx	periaxin	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1351983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:11133365|PMID:15197604|PMID:15469949|PMID:16770524|PMID:18410371|PMID:21079185|PMID:21326314|PMID:21741241|PMID:21840889|PMID:22847150|PMID:23056405|PMID:24011642|PMID:24078732|PMID:24123366|PMID:25025039|PMID:25044680|PMID:25164601|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:2758284|PMID:28050010|PMID:28492532|PMID:28945198|PMID:28979898|PMID:30724636|PMID:31523542|PMID:31827005|PMID:32085570|PMID:32376792|PMID:32453099|PMID:32460404|PMID:33875678|PMID:35509735|PMID:37091313
8815066	Prx	periaxin	gene	DOID:11830	myopia		ISO	RGD:1351983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8815066	Prx	periaxin	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1351983	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Distal spinal muscular atrophy	PMID:28492532
8815066	Prx	periaxin	gene	DOID:1596	depressive disorder		ISO	RGD:1351983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
8815066	Prx	periaxin	gene	DOID:1826	epilepsy		ISO	RGD:1351983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
8815066	Prx	periaxin	gene	DOID:1926	Gaucher's disease		ISO	RGD:1351983	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Kerasin thesaurismosis	PMID:11133365|PMID:25614874|PMID:28492532|PMID:36833258
8815066	Prx	periaxin	gene	DOID:2477	motor peripheral neuropathy		ISO	RGD:1351983	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8815066	Prx	periaxin	gene	DOID:2841	asthma		ISO	RGD:1351983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25025039|PMID:25741868|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:32376792|PMID:33875678|PMID:37091313
8815066	Prx	periaxin	gene	DOID:3312	bipolar disorder		ISO	RGD:1351983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:28492532
8815066	Prx	periaxin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8815066	Prx	periaxin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815066	Prx	periaxin	gene	DOID:630	genetic disease		ISO	RGD:1351983	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11133365|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16199547|PMID:16770524|PMID:19837996|PMID:20301641|PMID:21840889|PMID:22847150|PMID:23056405|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:2758284|PMID:28492532|PMID:29623298|PMID:31523542|PMID:31664448|PMID:31673878|PMID:32085570|PMID:32376792|PMID:32453099|PMID:32665875|PMID:34476298|PMID:35509735|PMID:36413997|PMID:37091313
8815066	Prx	periaxin	gene	DOID:630	genetic disease		ISO	RGD:1351983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11133365|PMID:15197604|PMID:16770524|PMID:21270786|PMID:22847150|PMID:23056405|PMID:24123366|PMID:24627108|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26392352|PMID:26467025|PMID:2758284|PMID:27981572|PMID:28050010|PMID:28492532|PMID:28979898|PMID:31523542|PMID:31664448|PMID:31673878|PMID:31827005|PMID:32085570|PMID:32376792|PMID:32453099|PMID:34476298|PMID:35509735|PMID:36413997|PMID:37091313
8815066	Prx	periaxin	gene	DOID:630	genetic disease		ISO	RGD:1351983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11133365|PMID:15197604|PMID:16770524|PMID:22847150|PMID:23056405|PMID:25025039|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:2758284|PMID:28492532|PMID:31523542|PMID:31827005|PMID:32085570|PMID:32376792|PMID:32453099|PMID:33875678|PMID:34476298|PMID:35509735|PMID:37091313
8815066	Prx	periaxin	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1351983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:25025039|PMID:25741868|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:32376792|PMID:33875678|PMID:37091313
8815066	Prx	periaxin	gene	DOID:7998	hyperthyroidism		ISO	RGD:1351983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25025039|PMID:25741868|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:32376792|PMID:33875678|PMID:37091313
8815066	Prx	periaxin	gene	DOID:870	neuropathy		ISO	RGD:1351983	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:11133365|PMID:15197604|PMID:16770524|PMID:22847150|PMID:25741868|PMID:26059842|PMID:28492532|PMID:34476298
8815066	Prx	periaxin	gene	DOID:9000495	Tremor		ISO	RGD:1351983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868|PMID:28492532|PMID:37091313
8815066	Prx	periaxin	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1351983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25025039|PMID:25741868|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:32376792|PMID:33875678|PMID:37091313
8815066	Prx	periaxin	gene	DOID:9001510	Funnel Chest		ISO	RGD:1351983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:37091313
8815066	Prx	periaxin	gene	DOID:9001733	Tinnitus		ISO	RGD:1351983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
8815066	Prx	periaxin	gene	DOID:9006743	Spasm		ISO	RGD:1351983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:25025039|PMID:25741868|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:32376792|PMID:33875678|PMID:37091313
8815066	Prx	periaxin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815066	Prx	periaxin	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1351983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25025039|PMID:25741868|PMID:26257172|PMID:26392352|PMID:26467025|PMID:2758284|PMID:28492532|PMID:31523542|PMID:32085570|PMID:32376792|PMID:32453099|PMID:33875678|PMID:35509735|PMID:37091313
8815066	Prx	periaxin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1351983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25025039|PMID:25741868|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:32376792|PMID:33875678|PMID:37091313
8815066	Prx	periaxin	gene	DOID:9834	hyperopia		ISO	RGD:1351983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25025039|PMID:25741868|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:32376792|PMID:33875678|PMID:37091313
8815066	Prx	periaxin	gene	DOID:9970	obesity		ISO	RGD:1351983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25025039|PMID:25741868|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:32376792|PMID:33875678|PMID:37091313
8815095	Prss37	serine protease 37	gene	DOID:1324	lung cancer		ISO	RGD:1604236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8815095	Prss37	serine protease 37	gene	DOID:3275	thymoma		ISO	RGD:1604236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8815095	Prss37	serine protease 37	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8815095	Prss37	serine protease 37	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815109	Gucy1a2	guanylate cyclase 1 soluble subunit alpha 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815109	Gucy1a2	guanylate cyclase 1 soluble subunit alpha 2	gene	DOID:1324	lung cancer		ISO	RGD:732908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8815109	Gucy1a2	guanylate cyclase 1 soluble subunit alpha 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8815109	Gucy1a2	guanylate cyclase 1 soluble subunit alpha 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815109	Gucy1a2	guanylate cyclase 1 soluble subunit alpha 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:732908	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500|PMID:21278247
8815109	Gucy1a2	guanylate cyclase 1 soluble subunit alpha 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732908	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
8815130	Terb1	telomere repeat binding bouquet formation protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815130	Terb1	telomere repeat binding bouquet formation protein 1	gene	DOID:0112355	spermatogenic failure 60		ISO	RGD:1605833	D	RGD:7240710	20211222	OMIM			
8815130	Terb1	telomere repeat binding bouquet formation protein 1	gene	DOID:0112355	spermatogenic failure 60		ISO	RGD:1605833	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 60	PMID:25741868
8815130	Terb1	telomere repeat binding bouquet formation protein 1	gene	DOID:14227	azoospermia		ISO	RGD:1605833	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Azoospermia	
8815130	Terb1	telomere repeat binding bouquet formation protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8815130	Terb1	telomere repeat binding bouquet formation protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8815130	Terb1	telomere repeat binding bouquet formation protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8815151	Trmt6	tRNA methyltransferase 6 non-catalytic subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8815151	Trmt6	tRNA methyltransferase 6 non-catalytic subunit	gene	DOID:1115	sarcoma		ISO	RGD:1604623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8815151	Trmt6	tRNA methyltransferase 6 non-catalytic subunit	gene	DOID:1909	melanoma		ISO	RGD:1604623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8815151	Trmt6	tRNA methyltransferase 6 non-catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815151	Trmt6	tRNA methyltransferase 6 non-catalytic subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8815151	Trmt6	tRNA methyltransferase 6 non-catalytic subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8815151	Trmt6	tRNA methyltransferase 6 non-catalytic subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815151	Trmt6	tRNA methyltransferase 6 non-catalytic subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8815151	Trmt6	tRNA methyltransferase 6 non-catalytic subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8815169	Atp1b3	ATPase Na+/K+ transporting subunit beta 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8815169	Atp1b3	ATPase Na+/K+ transporting subunit beta 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815169	Atp1b3	ATPase Na+/K+ transporting subunit beta 3	gene	DOID:10534	stomach cancer		ISO	RGD:733031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8815169	Atp1b3	ATPase Na+/K+ transporting subunit beta 3	gene	DOID:1115	sarcoma		ISO	RGD:733031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8815169	Atp1b3	ATPase Na+/K+ transporting subunit beta 3	gene	DOID:4362	cervical cancer		ISO	RGD:733031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8815169	Atp1b3	ATPase Na+/K+ transporting subunit beta 3	gene	DOID:5041	esophageal cancer		ISO	RGD:733031	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8815169	Atp1b3	ATPase Na+/K+ transporting subunit beta 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815169	Atp1b3	ATPase Na+/K+ transporting subunit beta 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8815169	Atp1b3	ATPase Na+/K+ transporting subunit beta 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815169	Atp1b3	ATPase Na+/K+ transporting subunit beta 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8815195	Gse1	Gse1 coiled-coil protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8815195	Gse1	Gse1 coiled-coil protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815195	Gse1	Gse1 coiled-coil protein	gene	DOID:10534	stomach cancer		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8815195	Gse1	Gse1 coiled-coil protein	gene	DOID:10534	stomach cancer	ameliorates	ISO	RGD:1604378	D	RGD:9068941	20220224	RGD			PMID:29367342|REF_RGD_ID:151361142
8815195	Gse1	Gse1 coiled-coil protein	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1604378	D	RGD:9068941	20220224	RGD			PMID:29367342|REF_RGD_ID:151361142
8815195	Gse1	Gse1 coiled-coil protein	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1604378	D	RGD:9068941	20220224	RGD			PMID:29367342|REF_RGD_ID:151361142
8815195	Gse1	Gse1 coiled-coil protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8815195	Gse1	Gse1 coiled-coil protein	gene	DOID:1115	sarcoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8815195	Gse1	Gse1 coiled-coil protein	gene	DOID:1324	lung cancer		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8815195	Gse1	Gse1 coiled-coil protein	gene	DOID:1909	melanoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8815195	Gse1	Gse1 coiled-coil protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8815195	Gse1	Gse1 coiled-coil protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8815195	Gse1	Gse1 coiled-coil protein	gene	DOID:4362	cervical cancer		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8815195	Gse1	Gse1 coiled-coil protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604378	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8815195	Gse1	Gse1 coiled-coil protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8815195	Gse1	Gse1 coiled-coil protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815195	Gse1	Gse1 coiled-coil protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8815195	Gse1	Gse1 coiled-coil protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815195	Gse1	Gse1 coiled-coil protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8815230	Gpr19	G protein-coupled receptor 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1344105	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8815230	Gpr19	G protein-coupled receptor 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815230	Gpr19	G protein-coupled receptor 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815243	Znf582	zinc finger protein 582	gene	DOID:1115	sarcoma		ISO	RGD:1353424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8815243	Znf582	zinc finger protein 582	gene	DOID:1324	lung cancer		ISO	RGD:1353424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8815243	Znf582	zinc finger protein 582	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8815243	Znf582	zinc finger protein 582	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1353424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8815243	Znf582	zinc finger protein 582	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8815259	Cdh6	cadherin 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8815259	Cdh6	cadherin 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815259	Cdh6	cadherin 6	gene	DOID:1324	lung cancer		ISO	RGD:735712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8815259	Cdh6	cadherin 6	gene	DOID:1909	melanoma		ISO	RGD:735712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8815259	Cdh6	cadherin 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8815259	Cdh6	cadherin 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815259	Cdh6	cadherin 6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:735712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8815259	Cdh6	cadherin 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815259	Cdh6	cadherin 6	gene	DOID:9007346	Cachexia		ISO	RGD:735712	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17878525
8815276	Ythdf2	YTH N6-methyladenosine RNA binding protein F2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8815276	Ythdf2	YTH N6-methyladenosine RNA binding protein F2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815276	Ythdf2	YTH N6-methyladenosine RNA binding protein F2	gene	DOID:10534	stomach cancer		ISO	RGD:1322711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8815276	Ythdf2	YTH N6-methyladenosine RNA binding protein F2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8815276	Ythdf2	YTH N6-methyladenosine RNA binding protein F2	gene	DOID:1324	lung cancer		ISO	RGD:1322711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8815276	Ythdf2	YTH N6-methyladenosine RNA binding protein F2	gene	DOID:1909	melanoma		ISO	RGD:1322711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8815276	Ythdf2	YTH N6-methyladenosine RNA binding protein F2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8815276	Ythdf2	YTH N6-methyladenosine RNA binding protein F2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322711	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8815276	Ythdf2	YTH N6-methyladenosine RNA binding protein F2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815276	Ythdf2	YTH N6-methyladenosine RNA binding protein F2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28104805
8815276	Ythdf2	YTH N6-methyladenosine RNA binding protein F2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8815285	Zfp36	ZFP36 zinc finger CCCH-type	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8815285	Zfp36	ZFP36 zinc finger CCCH-type	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815285	Zfp36	ZFP36 zinc finger CCCH-type	gene	DOID:0080600	COVID-19		ISO	RGD:737182	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8815285	Zfp36	ZFP36 zinc finger CCCH-type	gene	DOID:0080600	COVID-19		ISO	RGD:737182	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
8815285	Zfp36	ZFP36 zinc finger CCCH-type	gene	DOID:1324	lung cancer		ISO	RGD:737182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8815285	Zfp36	ZFP36 zinc finger CCCH-type	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:737182	D	RGD:9068941	20220818	RGD		mRNA:decreased expression:breast (human)	PMID:32248342|REF_RGD_ID:153344515
8815285	Zfp36	ZFP36 zinc finger CCCH-type	gene	DOID:2723	dermatitis		ISO	RGD:737182	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15944294
8815285	Zfp36	ZFP36 zinc finger CCCH-type	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737182	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8815285	Zfp36	ZFP36 zinc finger CCCH-type	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:737183	D	RGD:9068941	20220825	MouseDO		OMIM:180300	
8815285	Zfp36	ZFP36 zinc finger CCCH-type	gene	DOID:848	arthritis		ISO	RGD:737182	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15944294
8815285	Zfp36	ZFP36 zinc finger CCCH-type	gene	DOID:9002221	Hyperplasia		ISO	RGD:737182	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15944294
8815285	Zfp36	ZFP36 zinc finger CCCH-type	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:737182	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25556371
8815285	Zfp36	ZFP36 zinc finger CCCH-type	gene	DOID:9005372	Inflammation		ISO	RGD:737182	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12756304
8815285	Zfp36	ZFP36 zinc finger CCCH-type	gene	DOID:9006827	Lung Reperfusion Injury	exacerbates	ISO	RGD:737183	D	RGD:9068941	20220915	RGD			PMID:34238924|REF_RGD_ID:153350155
8815285	Zfp36	ZFP36 zinc finger CCCH-type	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:737182	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8815285	Zfp36	ZFP36 zinc finger CCCH-type	gene	DOID:9007346	Cachexia		ISO	RGD:737182	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12756304|PMID:15944294
8815285	Zfp36	ZFP36 zinc finger CCCH-type	gene	DOID:987	alopecia		ISO	RGD:737182	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15944294
8815291	Il16	interleukin 16	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1351288	D	RGD:9068941	20220513	RGD		DNA:SNP:3'utr: (rs1131445) T>C (human)	PMID:27354594|REF_RGD_ID:152177496
8815291	Il16	interleukin 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815291	Il16	interleukin 16	gene	DOID:10283	prostate cancer		ISO	RGD:1351288	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:rs4072111 (human)	PMID:18264096|REF_RGD_ID:2293182
8815291	Il16	interleukin 16	gene	DOID:10534	stomach cancer		ISO	RGD:1351288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8815291	Il16	interleukin 16	gene	DOID:1115	sarcoma		ISO	RGD:1351288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8815291	Il16	interleukin 16	gene	DOID:1205	allergic disease		ISO	RGD:1351288	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23624239
8815291	Il16	interleukin 16	gene	DOID:1324	lung cancer		ISO	RGD:1351288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8815291	Il16	interleukin 16	gene	DOID:1909	melanoma		ISO	RGD:1351288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8815291	Il16	interleukin 16	gene	DOID:2841	asthma		ISO	RGD:1351288	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-295T>C (human)	PMID:16387589|REF_RGD_ID:5024934
8815291	Il16	interleukin 16	gene	DOID:2841	asthma		ISO	RGD:1351288	D	RGD:9068941	20200609	RGD		associated with Rhinitis;protein:increased expression:respiratory system fluid/secretion	PMID:16734115|REF_RGD_ID:5024928
8815291	Il16	interleukin 16	gene	DOID:2841	asthma		ISO	RGD:1557964	D	RGD:9068941	20200609	RGD			PMID:10585533|REF_RGD_ID:5024937
8815291	Il16	interleukin 16	gene	DOID:2841	asthma	no_association	ISO	RGD:1351288	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-295T>C (human)	PMID:15784111|REF_RGD_ID:5024935
8815291	Il16	interleukin 16	gene	DOID:2841	asthma	severity	ISO	RGD:1351288	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:12872394|REF_RGD_ID:5024930
8815291	Il16	interleukin 16	gene	DOID:3068	glioblastoma		ISO	RGD:1583872	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:17221335|REF_RGD_ID:5024941
8815291	Il16	interleukin 16	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1351288	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:17221335|REF_RGD_ID:5024941
8815291	Il16	interleukin 16	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1351288	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:20079227|REF_RGD_ID:5024924
8815291	Il16	interleukin 16	gene	DOID:3275	thymoma		ISO	RGD:1351288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8815291	Il16	interleukin 16	gene	DOID:3388	periodontal disease		ISO	RGD:1583872	D	RGD:9068941	20200609	RGD		mRNA:increased expression:T cell	PMID:20618701|REF_RGD_ID:5024938
8815291	Il16	interleukin 16	gene	DOID:4483	rhinitis		ISO	RGD:1351288	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18254318|REF_RGD_ID:5024932
8815291	Il16	interleukin 16	gene	DOID:4483	rhinitis		ISO	RGD:1557964	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal cavity epithelium, serum	PMID:19295235|REF_RGD_ID:5024931
8815291	Il16	interleukin 16	gene	DOID:5041	esophageal cancer		ISO	RGD:1351288	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8815291	Il16	interleukin 16	gene	DOID:5154	borna disease		ISO	RGD:1583872	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:14698845|REF_RGD_ID:1354526
8815291	Il16	interleukin 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815291	Il16	interleukin 16	gene	DOID:8544	chronic fatigue syndrome		ISO	RGD:1351288	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma:	PMID:26615570|REF_RGD_ID:11538286
8815291	Il16	interleukin 16	gene	DOID:9000998	Brain Injuries		ISO	RGD:1583872	D	RGD:9068941	20200609	RGD			PMID:17983426|REF_RGD_ID:5024939
8815291	Il16	interleukin 16	gene	DOID:9001363	Heavy Metal Poisoning, Nervous System		ISO	RGD:1583872	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:14698845|REF_RGD_ID:1354526
8815291	Il16	interleukin 16	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1351288	D	RGD:9068941	20200609	RGD		associated with Sinusitis	PMID:17431659|REF_RGD_ID:5024933
8815291	Il16	interleukin 16	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1351288	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18264096
8815291	Il16	interleukin 16	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1583872	D	RGD:9068941	20200609	RGD			PMID:17641011|REF_RGD_ID:5024940
8815291	Il16	interleukin 16	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1351288	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8815291	Il16	interleukin 16	gene	DOID:9004484	Sepsis		ISO	RGD:1557964	D	RGD:9068941	20200609	RGD		associated with Shock, Hemorrhagic;protein:increased expression:lung	PMID:19641139|REF_RGD_ID:5024925
8815291	Il16	interleukin 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815291	Il16	interleukin 16	gene	DOID:9008680	Respiratory Tract Infections		ISO	RGD:1351288	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:14633438|REF_RGD_ID:4145665
8815291	Il16	interleukin 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8815291	Il16	interleukin 16	gene	DOID:9256	colorectal cancer		ISO	RGD:1351288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8815333	Pax1	paired box 1	gene	DOID:2907	Goldenhar syndrome		ISO	RGD:1350216	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Craniofacial microsomia	
8815333	Pax1	paired box 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8815333	Pax1	paired box 1	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1350216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: primary immune deficiency	PMID:25741868|PMID:28492532
8815333	Pax1	paired box 1	gene	DOID:630	genetic disease		ISO	RGD:1350216	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8815333	Pax1	paired box 1	gene	DOID:9002479	Otofaciocervical Syndrome 2		ISO	RGD:1350216	D	RGD:7240710	20180130	OMIM			
8815333	Pax1	paired box 1	gene	DOID:9002479	Otofaciocervical Syndrome 2		ISO	RGD:1350216	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OTOFACIOCERVICAL SYNDROME 2 | ClinVar Annotator: match by term: Otofaciocervical syndrome 2 | ClinVar Annotator: match by term: PAX1-related condition	PMID:1889089|PMID:23851939|PMID:25741868|PMID:28492532|PMID:28657137|PMID:29681087
8815333	Pax1	paired box 1	gene	DOID:9002601	Otofaciocervical Syndrome 1		ISO	RGD:1350216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8815333	Pax1	paired box 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815333	Pax1	paired box 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:1909	melanoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1344859	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29379198
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:670	amphetamine abuse		ISO	RGD:1344859	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1344859	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743467
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8815342	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:986	alopecia areata		ISO	RGD:1617323	D	RGD:9068941	20220825	MouseDO		OMIM:104000 | OMIM:610753	
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:1353888	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Midaortic syndrome	PMID:10220506|PMID:11139247|PMID:11180599|PMID:16199547|PMID:24748328|PMID:25741868|PMID:28492532|PMID:29483232|PMID:30074189|PMID:31343788|PMID:34185059
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:1353888	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:pancreas	PMID:17114010|REF_RGD_ID:6482236
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1353888	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:0060249	scoliosis		ISO	RGD:1353888	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:0080001	bone disease		ISO	RGD:1353888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9207788
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1353888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:1353888	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12	PMID:28492532|PMID:32733715
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:0111132	focal segmental glomerulosclerosis 7		ISO	RGD:1353888	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7	PMID:25741868
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353888	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:1059	intellectual disability		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:1115	sarcoma		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:112	esophageal varix		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric varix	PMID:25741868
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:12849	autistic disorder		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:16575836|PMID:25741868
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:16575836|PMID:25741868
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:1324	lung cancer		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:13375	temporal arteritis		ISO	RGD:1353888	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:temporal artery,leukocytes, mononuclear	PMID:21220737|REF_RGD_ID:6482238
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:13580	cholestasis		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis | ClinVar Annotator: match by term: cholestasis	PMID:11139247|PMID:11180599|PMID:16199547|PMID:24748328|PMID:25741868|PMID:28492532|PMID:29483232|PMID:31343788
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:13608	biliary atresia		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Biliary atresia | ClinVar Annotator: match by term: biliary atresia	PMID:11180599|PMID:16575836|PMID:19948535|PMID:25741868|PMID:26076142|PMID:28492532
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1353888	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease	PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20437614|PMID:21752016|PMID:22040217|PMID:23956173|PMID:24033266|PMID:25260786|PMID:25326637|PMID:25741868|PMID:26760175|PMID:28372585|PMID:28492532|PMID:30074189|PMID:9585603
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1353888	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease	PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20437614|PMID:21752016|PMID:22040217|PMID:23956173|PMID:24033266|PMID:25260786|PMID:25741868|PMID:26760175|PMID:28372585|PMID:28492532|PMID:30074189|PMID:9585603
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1353888	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Congenital heart disease | ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease	PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20437614|PMID:21752016|PMID:22040217|PMID:23956173|PMID:24033266|PMID:25260786|PMID:25741868|PMID:26760175|PMID:28492532|PMID:39043182|PMID:9585603
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease | ClinVar Annotator: match by term: congenital heart defect	PMID:16575836|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9585603
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:1852	intrahepatic cholestasis		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intrahepatic cholestasis	PMID:11139247|PMID:11180599|PMID:16199547|PMID:24748328|PMID:25741868|PMID:28492532|PMID:29483232|PMID:31343788
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:1909	melanoma		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1353888	D	RGD:9068941	20200609	RGD			PMID:16934875|REF_RGD_ID:6482240
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:2377	multiple sclerosis	disease_progression	ISO	RGD:1353888	D	RGD:9068941	20200609	RGD			PMID:20805994|REF_RGD_ID:6482233
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:25741868
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:2975	cystic kidney disease		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:3068	glioblastoma		ISO	RGD:1353888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21127729
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:735466	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal chord	PMID:26067594|REF_RGD_ID:13524575
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:3362	coronary aneurysm		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coronary aneurysm	PMID:25741868|PMID:28492532
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:3571	liver cancer	treatment	ISO	RGD:735466	D	RGD:9068941	20200609	RGD		miRNA:decreased expression:liver	PMID:25311838|REF_RGD_ID:14694834
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1353888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208345
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:3627	aortic aneurysm		ISO	RGD:1353888	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm	PMID:25741868|PMID:28492532
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:2937	D	RGD:9068941	20221201	RGD		protein:increased expression:lung	PMID:27982686|REF_RGD_ID:155663660
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cirrhosis of liver	PMID:11180599|PMID:16575836|PMID:19948535|PMID:26076142|PMID:28492532
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:630	genetic disease		ISO	RGD:1353888	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12497640|PMID:28492532
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1353888	D	RGD:7240710	20180130	OMIM			
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1353888	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: TETRALOGY OF FALLOT | ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139247|PMID:11152664|PMID:11180599|PMID:12649809|PMID:16199547|PMID:16575836|PMID:17576681|PMID:19780835|PMID:20437614|PMID:22405927|PMID:22487239|PMID:23891399|PMID:24033266|PMID:24748328|PMID:25676721|PMID:25741868|PMID:26076142|PMID:27502037|PMID:28492532|PMID:29483232|PMID:30293987|PMID:31343788|PMID:32065591|PMID:33433009|PMID:9536098|PMID:9585603
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1353888	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868|PMID:28492532
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:687	hepatoblastoma		ISO	RGD:1353888	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	PMID:25741868|PMID:36965188
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:8398	osteoarthritis		ISO	RGD:1353888	D	RGD:9068941	20200609	RGD			PMID:18354251|REF_RGD_ID:6482239
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1353888	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11180599|PMID:25741868|PMID:28492532
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:735466	D	RGD:9068941	20221110	RGD		mRNA,protein:increased expression:retina:	PMID:30787185|REF_RGD_ID:155663348
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9001487	Facies		ISO	RGD:1353888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9207787|PMID:9207788
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9002114	Charcot-Marie-Tooth Disease Axonal Type 2HH		ISO	RGD:1353888	D	RGD:7240710	20211110	OMIM			
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9002114	Charcot-Marie-Tooth Disease Axonal Type 2HH		ISO	RGD:1353888	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2HH | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal,  Type 2HH | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2HH	PMID:10220506|PMID:10533065|PMID:11139247|PMID:11180599|PMID:16199547|PMID:16575836|PMID:22040217|PMID:22405927|PMID:22487239|PMID:23891399|PMID:24748328|PMID:25676721|PMID:25741868|PMID:26076142|PMID:27502037|PMID:28492532|PMID:29483232|PMID:31343788|PMID:36964972|PMID:9585603
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:735466	D	RGD:9068941	20200609	RGD			PMID:19265135|REF_RGD_ID:6482234
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:735466	D	RGD:9068941	20200609	RGD			PMID:17947672|REF_RGD_ID:6482235
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1353888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9003591	Telecanthus		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9003698	ALAGILLE SYNDROME 1		ISO	RGD:1353888	D	RGD:7240710	20240214	OMIM			
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9003698	ALAGILLE SYNDROME 1		ISO	RGD:1353888	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALAGILLE SYNDROME 1 | ClinVar Annotator: match by term: Alagille Syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation	PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139247|PMID:11152664|PMID:11180599|PMID:11181574|PMID:11259677|PMID:12022040|PMID:12497640|PMID:12649809|PMID:15712272|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:17949281|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:21934706|PMID:22040217|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23891399|PMID:24033266|PMID:24748328|PMID:25525159|PMID:25606387|PMID:25676721|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26785492|PMID:27256232|PMID:27502037|PMID:28492532|PMID:28695677|PMID:29453956|PMID:29483232|PMID:29707407|PMID:29783821|PMID:30074189|PMID:30293987|PMID:30968598|PMID:31273345|PMID:31343788|PMID:31595668|PMID:32065591|PMID:32436246|PMID:33433009|PMID:33532864|PMID:33763395|PMID:35595280|PMID:36447191|PMID:36729644|PMID:36964972|PMID:36973604|PMID:37600608|PMID:8071971|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603|PMID:9700188
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1353888	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1353888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17804716
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:2937	D	RGD:9068941	20200609	RGD		protein:increased expression:carotid artery	PMID:21330605|REF_RGD_ID:6482230
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1353888	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:28492532
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9007617	Conotruncal Cardiac Defects		ISO	RGD:1353888	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Conotruncal heart malformations	PMID:25741868|PMID:28492532
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1353888	D	RGD:9068941	20200609	RGD			PMID:18691378|REF_RGD_ID:2299152
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16575836|PMID:25741868
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1353888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12022040|PMID:9207787|PMID:9207788
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9008606	Corneal Opacity		ISO	RGD:1353888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12022040
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9008681	Deafness		ISO	RGD:1353888	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:25741868
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9008743	Deafness, Congenital Heart Defects, and Posterior Embryotoxon		ISO	RGD:1353888	D	RGD:7240710	20210203	OMIM			
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9008743	Deafness, Congenital Heart Defects, and Posterior Embryotoxon		ISO	RGD:1353888	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness, congenital heart defects, and posterior embryotoxon	PMID:10220506|PMID:10533065|PMID:11139247|PMID:11180599|PMID:16199547|PMID:16575836|PMID:20437614|PMID:22405927|PMID:22487239|PMID:23891399|PMID:24033266|PMID:24748328|PMID:25676721|PMID:25741868|PMID:26076142|PMID:27502037|PMID:28492532|PMID:29483232|PMID:31343788|PMID:9585603
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1353888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21036696
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9245	Alagille syndrome		ISO	RGD:1353888	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar Annotator: match by term: Arteriohepatic dysplasia	PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12022040|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12442286|PMID:12497640|PMID:12649809|PMID:15358557|PMID:15712272|PMID:15772854|PMID:16199547|PMID:16575836|PMID:16875832|PMID:17241866|PMID:17576681|PMID:17720887|PMID:17949281|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22487239|PMID:22488849|PMID:23891399|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25525159|PMID:25676721|PMID:25741868|PMID:26076142|PMID:26548814|PMID:26633542|PMID:26760175|PMID:27256232|PMID:27760138|PMID:28166811|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29783821|PMID:30074189|PMID:30651579|PMID:31343788|PMID:31475041|PMID:33532864|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603|PMID:9700188
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9245	Alagille syndrome		ISO	RGD:1353888	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia	PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12497640|PMID:12649809|PMID:15712272|PMID:15772854|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:27760138|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:33433009|PMID:33532864|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9245	Alagille syndrome		ISO	RGD:1353888	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia	PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12497640|PMID:12649809|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25326637|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:27760138|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9245	Alagille syndrome		ISO	RGD:1353888	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia	PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12497640|PMID:12649809|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25326637|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:27760138|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29707407|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:31595668|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9245	Alagille syndrome		ISO	RGD:1353888	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia	PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12497640|PMID:12649809|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:27760138|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29707407|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:31595668|PMID:32065591|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9245	Alagille syndrome		ISO	RGD:1353888	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia	PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:11259677|PMID:12239725|PMID:12244555|PMID:12442286|PMID:12497640|PMID:12649809|PMID:15358557|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:17720887|PMID:17949281|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23891399|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25326637|PMID:25525159|PMID:25606387|PMID:25676721|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:26785492|PMID:27256232|PMID:27760138|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29707407|PMID:29783821|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:31595668|PMID:32065591|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603|PMID:9700188
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9245	Alagille syndrome		ISO	RGD:1353888	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia	PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:11259677|PMID:12239725|PMID:12244555|PMID:12442286|PMID:12497640|PMID:12649809|PMID:15358557|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:16875832|PMID:17241866|PMID:17576681|PMID:17720887|PMID:17949281|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23891399|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25525159|PMID:25606387|PMID:25676721|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:26785492|PMID:27256232|PMID:27760138|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29707407|PMID:29783821|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:31595668|PMID:32065591|PMID:32733715|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34150014|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603|PMID:9700188
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9245	Alagille syndrome		ISO	RGD:1353888	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Alagille Syndrome | ClinVar Annotator: match by term: Alagille syndrome | ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC | ClinVar Annotator: match by term: Hepatic Ductular Hypoplasia	PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12442286|PMID:12497640|PMID:12649809|PMID:15358557|PMID:16199547|PMID:16575836|PMID:16875832|PMID:17576681|PMID:17720887|PMID:19780835|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22405927|PMID:22487239|PMID:22488849|PMID:23891399|PMID:24033266|PMID:24748328|PMID:25606387|PMID:25676721|PMID:25741868|PMID:26076142|PMID:26463753|PMID:27502037|PMID:28492532|PMID:28695677|PMID:29483232|PMID:30074189|PMID:30655312|PMID:31343788|PMID:32190976|PMID:35595280|PMID:36964972|PMID:36973604|PMID:37600608|PMID:9536098|PMID:9585603
8815373	Jag1	jagged canonical Notch ligand 1	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:1353888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	PMID:25741868
8815403	Pianp	PILR alpha associated neural protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815403	Pianp	PILR alpha associated neural protein	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312691	D	RGD:9068941	20220825	MouseDO			
8815403	Pianp	PILR alpha associated neural protein	gene	DOID:1324	lung cancer		ISO	RGD:1606434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related condition	
8815403	Pianp	PILR alpha associated neural protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815403	Pianp	PILR alpha associated neural protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8815417	Med8	mediator complex subunit 8	gene	DOID:10534	stomach cancer		ISO	RGD:1313646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8815417	Med8	mediator complex subunit 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8815417	Med8	mediator complex subunit 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815417	Med8	mediator complex subunit 8	gene	DOID:6039	uveal melanoma		ISO	RGD:1313646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8815417	Med8	mediator complex subunit 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8815417	Med8	mediator complex subunit 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8815417	Med8	mediator complex subunit 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8815434	Rpl27	ribosomal protein L27	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8815434	Rpl27	ribosomal protein L27	gene	DOID:0111893	Diamond-Blackfan anemia 16		ISO	RGD:735597	D	RGD:7240710	20190315	OMIM			
8815434	Rpl27	ribosomal protein L27	gene	DOID:0111893	Diamond-Blackfan anemia 16		ISO	RGD:735597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia 16 | ClinVar Annotator: match by term: RPL27-related condition	PMID:25741868|PMID:28492532
8815434	Rpl27	ribosomal protein L27	gene	DOID:1324	lung cancer		ISO	RGD:735597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8815434	Rpl27	ribosomal protein L27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815434	Rpl27	ribosomal protein L27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8815446	Mrps17	mitochondrial ribosomal protein S17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815446	Mrps17	mitochondrial ribosomal protein S17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8815446	Mrps17	mitochondrial ribosomal protein S17	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8815456	Fbxo27	F-box protein 27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343305	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815456	Fbxo27	F-box protein 27	gene	DOID:10534	stomach cancer		ISO	RGD:1343305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8815456	Fbxo27	F-box protein 27	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8815456	Fbxo27	F-box protein 27	gene	DOID:3275	thymoma		ISO	RGD:1343305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8815456	Fbxo27	F-box protein 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815456	Fbxo27	F-box protein 27	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8815456	Fbxo27	F-box protein 27	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815472	Sbf1	SET binding factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8815472	Sbf1	SET binding factor 1	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1316075	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4	PMID:28005197|PMID:28492532|PMID:28902413
8815472	Sbf1	SET binding factor 1	gene	DOID:0050581	brachydactyly		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:37091313
8815472	Sbf1	SET binding factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815472	Sbf1	SET binding factor 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1316075	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:30763456
8815472	Sbf1	SET binding factor 1	gene	DOID:0110194	Charcot-Marie-Tooth disease type 4B3		ISO	RGD:1316075	D	RGD:7240710	20180130	OMIM			
8815472	Sbf1	SET binding factor 1	gene	DOID:0110194	Charcot-Marie-Tooth disease type 4B3		ISO	RGD:1316075	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B3 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4B3 | ClinVar Annotator: match by term: SBF1-related condition	PMID:16199547|PMID:17576681|PMID:23749797|PMID:24799518|PMID:25741868|PMID:26547235|PMID:28005197|PMID:28492532|PMID:28902413|PMID:37091313|PMID:38127101|PMID:41737274|PMID:9536098
8815472	Sbf1	SET binding factor 1	gene	DOID:0110209	Charcot-Marie-Tooth disease X-linked dominant 1		ISO	RGD:1316075	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: HMSN, X-LINKED	PMID:25741868|PMID:28492532|PMID:37091313
8815472	Sbf1	SET binding factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8815472	Sbf1	SET binding factor 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25741868
8815472	Sbf1	SET binding factor 1	gene	DOID:10907	microcephaly		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8815472	Sbf1	SET binding factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8815472	Sbf1	SET binding factor 1	gene	DOID:1909	melanoma		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8815472	Sbf1	SET binding factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8815472	Sbf1	SET binding factor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8815472	Sbf1	SET binding factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8815472	Sbf1	SET binding factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316075	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
8815472	Sbf1	SET binding factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8815472	Sbf1	SET binding factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815472	Sbf1	SET binding factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8815472	Sbf1	SET binding factor 1	gene	DOID:870	neuropathy		ISO	RGD:1316075	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:28492532
8815472	Sbf1	SET binding factor 1	gene	DOID:9000495	Tremor		ISO	RGD:1316075	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Limb tremor	PMID:25741868|PMID:28492532|PMID:37091313|PMID:41737274
8815472	Sbf1	SET binding factor 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1316075	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:17576681|PMID:25741868|PMID:28492532|PMID:37091313|PMID:41737274|PMID:9536098
8815472	Sbf1	SET binding factor 1	gene	DOID:9003760	Myalgia		ISO	RGD:1316075	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868|PMID:28492532|PMID:41737274
8815472	Sbf1	SET binding factor 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1316075	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868|PMID:28492532|PMID:30787906|PMID:37091313|PMID:41737274
8815472	Sbf1	SET binding factor 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1316075	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperreflexia | ClinVar Annotator: match by term: Hyporeflexia	PMID:28492532|PMID:37091313|PMID:41737274
8815472	Sbf1	SET binding factor 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1316075	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30787906|PMID:37091313|PMID:41737274|PMID:9536098
8815472	Sbf1	SET binding factor 1	gene	DOID:9006743	Spasm		ISO	RGD:1316075	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:25741868|PMID:28492532|PMID:37091313|PMID:41737274
8815472	Sbf1	SET binding factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815472	Sbf1	SET binding factor 1	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1316075	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:17576681|PMID:25741868|PMID:28492532|PMID:37091313|PMID:41737274|PMID:9536098
8815472	Sbf1	SET binding factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8815472	Sbf1	SET binding factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1321515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:0070262	congenital disorder of glycosylation type IIj		ISO	RGD:1321515	D	RGD:7240710	20180130	OMIM			
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:0070262	congenital disorder of glycosylation type IIj		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COG4-CDG | ClinVar Annotator: match by term: COG4-related condition | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2J	PMID:21185756|PMID:25741868|PMID:28492532|PMID:32064623
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:0111673	Saul-Wilson syndrome		ISO	RGD:1321515	D	RGD:7240710	20190315	OMIM			
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:0111673	Saul-Wilson syndrome		ISO	RGD:1321515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC DYSPLASIA | ClinVar Annotator: match by term: Microcephalic osteodysplastic dysplasia, Saul-Wilson type | ClinVar Annotator: match by term: SAUL-WILSON SYNDROME	PMID:21185756|PMID:25741868|PMID:28492532|PMID:31949312|PMID:32064623
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:11830	myopia		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:19494034|PMID:21185756|PMID:24033266|PMID:25741868
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:12849	autistic disorder		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:19494034|PMID:21185756|PMID:24033266|PMID:25741868
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE	
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:1324	lung cancer		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:1826	epilepsy		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:19494034|PMID:21185756|PMID:24033266|PMID:25741868
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:1909	melanoma		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:1969	cerebral palsy		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:2030	anxiety disorder		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:3070	high grade glioma		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:4362	cervical cancer		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:480	movement disease		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:630	genetic disease		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:16199547|PMID:21185756|PMID:28492532
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:9005077	Joint Instability		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:19494034|PMID:21185756|PMID:24033266|PMID:25741868
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Generalized hypotonia	PMID:19494034|PMID:19651599|PMID:21185756|PMID:24033266|PMID:25741868
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:19494034|PMID:21185756|PMID:24033266|PMID:25741868
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8815533	Cog4	component of oligomeric golgi complex 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8815560	Tasor	transcription activation suppressor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8815560	Tasor	transcription activation suppressor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815560	Tasor	transcription activation suppressor	gene	DOID:10534	stomach cancer		ISO	RGD:1604038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8815560	Tasor	transcription activation suppressor	gene	DOID:1115	sarcoma		ISO	RGD:1604038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8815560	Tasor	transcription activation suppressor	gene	DOID:1909	melanoma		ISO	RGD:1604038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8815560	Tasor	transcription activation suppressor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8815560	Tasor	transcription activation suppressor	gene	DOID:3275	thymoma		ISO	RGD:1604038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8815560	Tasor	transcription activation suppressor	gene	DOID:4362	cervical cancer		ISO	RGD:1604038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8815560	Tasor	transcription activation suppressor	gene	DOID:5041	esophageal cancer		ISO	RGD:1604038	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8815560	Tasor	transcription activation suppressor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8815560	Tasor	transcription activation suppressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815560	Tasor	transcription activation suppressor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8815560	Tasor	transcription activation suppressor	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8815560	Tasor	transcription activation suppressor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8815560	Tasor	transcription activation suppressor	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8815560	Tasor	transcription activation suppressor	gene	DOID:9005834	Ependymomas		ISO	RGD:1604038	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
8815560	Tasor	transcription activation suppressor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815560	Tasor	transcription activation suppressor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8815560	Tasor	transcription activation suppressor	gene	DOID:9256	colorectal cancer		ISO	RGD:1604038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8815586	Gpr108	G protein-coupled receptor 108	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815586	Gpr108	G protein-coupled receptor 108	gene	DOID:10534	stomach cancer		ISO	RGD:1344702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8815586	Gpr108	G protein-coupled receptor 108	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8815586	Gpr108	G protein-coupled receptor 108	gene	DOID:1909	melanoma		ISO	RGD:1344702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8815586	Gpr108	G protein-coupled receptor 108	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8815586	Gpr108	G protein-coupled receptor 108	gene	DOID:3275	thymoma		ISO	RGD:1344702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8815586	Gpr108	G protein-coupled receptor 108	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8815586	Gpr108	G protein-coupled receptor 108	gene	DOID:5041	esophageal cancer		ISO	RGD:1344702	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8815586	Gpr108	G protein-coupled receptor 108	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8815586	Gpr108	G protein-coupled receptor 108	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815586	Gpr108	G protein-coupled receptor 108	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1344702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8815586	Gpr108	G protein-coupled receptor 108	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815586	Gpr108	G protein-coupled receptor 108	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8815586	Gpr108	G protein-coupled receptor 108	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8815586	Gpr108	G protein-coupled receptor 108	gene	DOID:9256	colorectal cancer		ISO	RGD:1344702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8815608	Ppm1l	protein phosphatase, Mg2+/Mn2+ dependent 1L	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8815608	Ppm1l	protein phosphatase, Mg2+/Mn2+ dependent 1L	gene	DOID:9970	obesity		ISO	RGD:1313118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18344982
8815616	Tonsl	tonsoku like, DNA repair protein	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532|PMID:30773277
8815616	Tonsl	tonsoku like, DNA repair protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8815616	Tonsl	tonsoku like, DNA repair protein	gene	DOID:0070297	primary microcephaly		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:30773277
8815616	Tonsl	tonsoku like, DNA repair protein	gene	DOID:0112295	spondylometaphyseal dysplasia		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spondylometaphyseal dysplasia	PMID:25741868|PMID:30773277
8815616	Tonsl	tonsoku like, DNA repair protein	gene	DOID:10534	stomach cancer		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8815616	Tonsl	tonsoku like, DNA repair protein	gene	DOID:10907	microcephaly		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:30773277
8815616	Tonsl	tonsoku like, DNA repair protein	gene	DOID:1115	sarcoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8815616	Tonsl	tonsoku like, DNA repair protein	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1316704	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8815616	Tonsl	tonsoku like, DNA repair protein	gene	DOID:1227	neutropenia		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neutropenia	PMID:25741868|PMID:30773277
8815616	Tonsl	tonsoku like, DNA repair protein	gene	DOID:1324	lung cancer		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8815616	Tonsl	tonsoku like, DNA repair protein	gene	DOID:1909	melanoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8815616	Tonsl	tonsoku like, DNA repair protein	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868|PMID:30773277
8815616	Tonsl	tonsoku like, DNA repair protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8815616	Tonsl	tonsoku like, DNA repair protein	gene	DOID:3275	thymoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8815616	Tonsl	tonsoku like, DNA repair protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8815616	Tonsl	tonsoku like, DNA repair protein	gene	DOID:5684	spondyloepimetaphyseal dysplasia, Sponastrime type		ISO	RGD:1316704	D	RGD:7240710	20190731	OMIM			
8815616	Tonsl	tonsoku like, DNA repair protein	gene	DOID:5684	spondyloepimetaphyseal dysplasia, Sponastrime type		ISO	RGD:1316704	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE | ClinVar Annotator: match by term: Sponastrime Dysplasia | ClinVar Annotator: match by term: Sponastrime dysplasia | ClinVar Annotator: match by term: TONSL-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30773277|PMID:30773278|PMID:32959051|PMID:9536098
8815616	Tonsl	tonsoku like, DNA repair protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815616	Tonsl	tonsoku like, DNA repair protein	gene	DOID:630	genetic disease		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8815616	Tonsl	tonsoku like, DNA repair protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8815616	Tonsl	tonsoku like, DNA repair protein	gene	DOID:9007573	Flatfoot		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:30773277
8815616	Tonsl	tonsoku like, DNA repair protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8815651	Gtsf1	gametocyte specific factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605883	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8815670	Lca5	lebercilin LCA5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8815670	Lca5	lebercilin LCA5	gene	DOID:0110078	Leber congenital amaurosis 1		ISO	RGD:1318396	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis 1	PMID:17576681|PMID:18334959|PMID:25741868|PMID:28492532|PMID:32865313|PMID:9536098
8815670	Lca5	lebercilin LCA5	gene	DOID:0110215	Leber congenital amaurosis 5		ISO	RGD:1318396	D	RGD:7240710	20180130	OMIM			
8815670	Lca5	lebercilin LCA5	gene	DOID:0110215	Leber congenital amaurosis 5		ISO	RGD:1318396	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LCA5-related condition | ClinVar Annotator: match by term: LCA5-related retinopathy | ClinVar Annotator: match by term: LEBER CONGENITAL AMAUROSIS 5 | ClinVar Annotator: match by term: Leber congenital amaurosis 5 | ClinVar Annotator: match by term: Leber congenital amaurosis type 5	PMID:16199547|PMID:17546029|PMID:17576681|PMID:18000884|PMID:19503738|PMID:20301475|PMID:21602930|PMID:21606596|PMID:23661368|PMID:23946133|PMID:24144451|PMID:24265693|PMID:24474277|PMID:25356970|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26352687|PMID:26856745|PMID:27067258|PMID:27375279|PMID:27624628|PMID:28041643|PMID:28418496|PMID:28492532|PMID:30029497|PMID:31106028|PMID:3196484|PMID:31964843|PMID:32214227|PMID:32531858|PMID:32579692|PMID:33090715|PMID:33776059|PMID:33957996|PMID:34906470|PMID:36819107|PMID:36909829|PMID:8571951|PMID:9536098
8815670	Lca5	lebercilin LCA5	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1318396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868
8815670	Lca5	lebercilin LCA5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8815670	Lca5	lebercilin LCA5	gene	DOID:1432	blindness		ISO	RGD:1318396	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:17546029
8815670	Lca5	lebercilin LCA5	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1318396	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:12642313|PMID:17546029|PMID:17576681|PMID:19503738|PMID:20301475|PMID:21606596|PMID:23946133|PMID:25356970|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26352687|PMID:27624628|PMID:28041643|PMID:28418496|PMID:28492532|PMID:31456290|PMID:31964843|PMID:32483926|PMID:32531858|PMID:36909829|PMID:8571951|PMID:9536098
8815670	Lca5	lebercilin LCA5	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1318396	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:12642313|PMID:17546029|PMID:17576681|PMID:19503738|PMID:20301475|PMID:21606596|PMID:23946133|PMID:25356970|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26352687|PMID:27067258|PMID:27624628|PMID:28041643|PMID:28418496|PMID:28492532|PMID:31456290|PMID:31964843|PMID:32483926|PMID:32531858|PMID:36909829|PMID:8571951|PMID:9536098
8815670	Lca5	lebercilin LCA5	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1318396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: leber congenital amaurosis	PMID:17546029|PMID:17576681|PMID:23946133|PMID:25741868|PMID:26047050|PMID:28492532|PMID:31456290|PMID:31964843|PMID:9536098
8815670	Lca5	lebercilin LCA5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8815670	Lca5	lebercilin LCA5	gene	DOID:4362	cervical cancer		ISO	RGD:1318396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8815670	Lca5	lebercilin LCA5	gene	DOID:5679	retinal disease		ISO	RGD:1318396	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:23946133
8815670	Lca5	lebercilin LCA5	gene	DOID:5723	optic atrophy		ISO	RGD:1318396	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8815670	Lca5	lebercilin LCA5	gene	DOID:630	genetic disease		ISO	RGD:1318396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8815670	Lca5	lebercilin LCA5	gene	DOID:8501	fundus dystrophy		ISO	RGD:1318396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:17546029|PMID:23946133|PMID:25741868|PMID:27353947|PMID:27624628|PMID:28041643|PMID:28492532|PMID:31589614|PMID:32483926|PMID:32531858
8815670	Lca5	lebercilin LCA5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8815684	Tmem144	transmembrane protein 144	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815684	Tmem144	transmembrane protein 144	gene	DOID:10534	stomach cancer		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8815684	Tmem144	transmembrane protein 144	gene	DOID:1909	melanoma		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8815684	Tmem144	transmembrane protein 144	gene	DOID:4362	cervical cancer		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8815684	Tmem144	transmembrane protein 144	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815684	Tmem144	transmembrane protein 144	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815684	Tmem144	transmembrane protein 144	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8815684	Tmem144	transmembrane protein 144	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8815710	Rnf170	ring finger protein 170	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8815710	Rnf170	ring finger protein 170	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815710	Rnf170	ring finger protein 170	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1615793	D	RGD:9068941	20220825	MouseDO			
8815710	Rnf170	ring finger protein 170	gene	DOID:0111170	autosomal dominant sensory ataxia 1		ISO	RGD:1352237	D	RGD:7240710	20180418	OMIM			
8815710	Rnf170	ring finger protein 170	gene	DOID:0111170	autosomal dominant sensory ataxia 1		ISO	RGD:1352237	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ataxia, sensory, 1, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant sensory ataxia 1 | ClinVar Annotator: match by term: RNF170-related condition	PMID:18414213|PMID:21115467|PMID:25741868|PMID:25882839|PMID:28492532|PMID:31589614|PMID:31636353|PMID:32943585|PMID:34420199|PMID:34469621
8815710	Rnf170	ring finger protein 170	gene	DOID:0112345	hereditary spastic paraplegia 85		ISO	RGD:1352237	D	RGD:7240710	20220112	OMIM			
8815710	Rnf170	ring finger protein 170	gene	DOID:0112345	hereditary spastic paraplegia 85		ISO	RGD:1352237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 85, autosomal recessive	PMID:25741868|PMID:31636353|PMID:35041108
8815710	Rnf170	ring finger protein 170	gene	DOID:2394	ovarian cancer		ISO	RGD:1352237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8815710	Rnf170	ring finger protein 170	gene	DOID:3275	thymoma		ISO	RGD:1352237	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8815710	Rnf170	ring finger protein 170	gene	DOID:4362	cervical cancer		ISO	RGD:1352237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8815710	Rnf170	ring finger protein 170	gene	DOID:630	genetic disease		ISO	RGD:1352237	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8815710	Rnf170	ring finger protein 170	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1352237	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8815727	Txndc9	thioredoxin domain containing 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815727	Txndc9	thioredoxin domain containing 9	gene	DOID:10534	stomach cancer		ISO	RGD:1352767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8815727	Txndc9	thioredoxin domain containing 9	gene	DOID:1324	lung cancer		ISO	RGD:1352767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8815727	Txndc9	thioredoxin domain containing 9	gene	DOID:3275	thymoma		ISO	RGD:1352767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8815727	Txndc9	thioredoxin domain containing 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1352767	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8815727	Txndc9	thioredoxin domain containing 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8815727	Txndc9	thioredoxin domain containing 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0050453	lissencephaly		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lissencephaly	PMID:25741868
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0080377	peroxisomal biogenesis disorder		ISO	RGD:1316906	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder due to PEX5 defect	PMID:25741868
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0080476	peroxisome biogenesis disorder 1A		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger)	
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0080477	peroxisome biogenesis disorder 2A		ISO	RGD:1316906	D	RGD:7240710	20180130	OMIM			
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0080477	peroxisome biogenesis disorder 2A		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2a (zellweger)	PMID:18712838|PMID:21031596|PMID:25741868|PMID:26344566|PMID:28492532|PMID:7719337
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0080479	peroxisome biogenesis disorder 4A		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4A (Zellweger)	PMID:25741868
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0080622	peroxisome biogenesis disorder 2B		ISO	RGD:1316906	D	RGD:7240710	20180130	OMIM			
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0080622	peroxisome biogenesis disorder 2B		ISO	RGD:1316906	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 2B | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B	PMID:10462504|PMID:16199547|PMID:17532062|PMID:17576681|PMID:18712838|PMID:20681997|PMID:21031596|PMID:25741868|PMID:26220973|PMID:26344566|PMID:27290639|PMID:28492532|PMID:30561787|PMID:33057194|PMID:33389129|PMID:34645488|PMID:9536098
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0080918	polymicrogyria		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0110854	rhizomelic chondrodysplasia punctata type 5		ISO	RGD:1316906	D	RGD:7240710	20180130	OMIM			
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0110854	rhizomelic chondrodysplasia punctata type 5		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5	PMID:25741868|PMID:26220973|PMID:28492532|PMID:33389129
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0111083	Fanconi anemia complementation group D2		ISO	RGD:1316906	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group D2	PMID:25741868
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:10534	stomach cancer		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:1059	intellectual disability		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:26220973
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:10907	microcephaly		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:26220973|PMID:28492532
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:10908	hydrocephalus		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:1115	sarcoma		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:11383	cryptorchidism		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:1826	epilepsy		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25741868|PMID:26220973
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:2580	rhizomelic chondrodysplasia punctata		ISO	RGD:1316906	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata	PMID:26220973
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:5723	optic atrophy		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:630	genetic disease		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:870	neuropathy		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:26220973
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:9003063	Cerebrohepatorenal Syndrome, Variant Types		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebrohepatorenal syndrome, variant types	PMID:25741868|PMID:26344566|PMID:28492532
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:9004327	Colpocephaly		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colpocephaly	PMID:25741868
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:9008189	Pyelectasis		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:25741868
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:905	Zellweger syndrome		ISO	RGD:1316906	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum	PMID:18712838|PMID:21031596|PMID:25741868|PMID:26344566|PMID:28492532
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:905	Zellweger syndrome		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Zellweger syndrome	PMID:25741868|PMID:26344566|PMID:28492532
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:906	peroxisomal disease		ISO	RGD:1316907	D	RGD:9068941	20200609	RGD			PMID:15732085|REF_RGD_ID:13207458
8815742	Pex5	peroxisomal biogenesis factor 5	gene	DOID:9452	steatotic liver disease		ISO	RGD:1316907	D	RGD:9068941	20200609	RGD			PMID:21756965|REF_RGD_ID:25440484
8815764	Cblif	cobalamin binding intrinsic factor	gene	DOID:0050734	congenital intrinsic factor deficiency		ISO	RGD:735662	D	RGD:7240710	20180130	OMIM			
8815764	Cblif	cobalamin binding intrinsic factor	gene	DOID:0050734	congenital intrinsic factor deficiency		ISO	RGD:735662	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital intrinsic factor deficiency | ClinVar Annotator: match by term: Hereditary intrinsic factor deficiency | ClinVar Annotator: match by term: INTRINSIC FACTOR DEFICIENCY | ClinVar Annotator: match by term: Intrinsic factor deficiency	PMID:14576042|PMID:15738392|PMID:16199547|PMID:17576681|PMID:18620679|PMID:19036097|PMID:20408840|PMID:22854512|PMID:22929189|PMID:24033266|PMID:25308559|PMID:25640679|PMID:25741868|PMID:27577878|PMID:28492532|PMID:9536098
8815764	Cblif	cobalamin binding intrinsic factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8815764	Cblif	cobalamin binding intrinsic factor	gene	DOID:10808	gastric ulcer		ISO	RGD:735662	D	RGD:9068941	20200609	RGD		associated with Polycythemia; mRNA:decreased expression:gastric mucosa:	PMID:26485402|REF_RGD_ID:11049581
8815764	Cblif	cobalamin binding intrinsic factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8815764	Cblif	cobalamin binding intrinsic factor	gene	DOID:13381	pernicious anemia		ISO	RGD:735662	D	RGD:9068941	20200609	RGD			PMID:167441|PMID:4434116|REF_RGD_ID:11049584|REF_RGD_ID:11049587
8815764	Cblif	cobalamin binding intrinsic factor	gene	DOID:13382	megaloblastic anemia		ISO	RGD:735662	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Megaloblastic anemia	PMID:14576042|PMID:19036097|PMID:22854512|PMID:22929189|PMID:25741868|PMID:28492532
8815764	Cblif	cobalamin binding intrinsic factor	gene	DOID:4029	gastritis		ISO	RGD:62084	D	RGD:9068941	20200609	RGD			PMID:1097299|REF_RGD_ID:11049585
8815764	Cblif	cobalamin binding intrinsic factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8815764	Cblif	cobalamin binding intrinsic factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8815764	Cblif	cobalamin binding intrinsic factor	gene	DOID:5419	schizophrenia		ISO	RGD:735662	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
8815764	Cblif	cobalamin binding intrinsic factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8815764	Cblif	cobalamin binding intrinsic factor	gene	DOID:9003133	Hypertelorism		ISO	RGD:735662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:14576042|PMID:15738392|PMID:16199547|PMID:20408840|PMID:22929189|PMID:24033266|PMID:25308559|PMID:25741868|PMID:27577878|PMID:28492532
8815764	Cblif	cobalamin binding intrinsic factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:735662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:14576042|PMID:15738392|PMID:16199547|PMID:20408840|PMID:22929189|PMID:24033266|PMID:25308559|PMID:25741868|PMID:27577878|PMID:28492532
8815764	Cblif	cobalamin binding intrinsic factor	gene	DOID:9006481	Imerslund-Grasbeck Syndrome 1		ISO	RGD:735662	D	RGD:9068941	20200609	RGD		DNA:polymorphisms, missense mutations, splice sites:exon,intron:	PMID:15738392|REF_RGD_ID:11049583
8815764	Cblif	cobalamin binding intrinsic factor	gene	DOID:9006481	Imerslund-Grasbeck Syndrome 1		ISO	RGD:735662	D	RGD:9068941	20200609	RGD		protein:increased excretion:urine:	PMID:10435666|REF_RGD_ID:11049586
8815764	Cblif	cobalamin binding intrinsic factor	gene	DOID:9007661	Dwarfism		ISO	RGD:735662	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:14576042|PMID:19036097|PMID:22854512|PMID:22929189|PMID:25741868|PMID:28492532
8815764	Cblif	cobalamin binding intrinsic factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:735662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:14576042|PMID:15738392|PMID:16199547|PMID:20408840|PMID:22929189|PMID:24033266|PMID:25308559|PMID:25741868|PMID:27577878|PMID:28492532
8815764	Cblif	cobalamin binding intrinsic factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:14576042|PMID:15738392|PMID:16199547|PMID:20408840|PMID:22929189|PMID:24033266|PMID:25308559|PMID:25741868|PMID:27577878|PMID:28492532
8815794	Wdr91	WD repeat domain 91	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8815794	Wdr91	WD repeat domain 91	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815794	Wdr91	WD repeat domain 91	gene	DOID:10534	stomach cancer		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8815794	Wdr91	WD repeat domain 91	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8815794	Wdr91	WD repeat domain 91	gene	DOID:1115	sarcoma		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8815794	Wdr91	WD repeat domain 91	gene	DOID:1909	melanoma		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8815794	Wdr91	WD repeat domain 91	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8815794	Wdr91	WD repeat domain 91	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8815794	Wdr91	WD repeat domain 91	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8815794	Wdr91	WD repeat domain 91	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815794	Wdr91	WD repeat domain 91	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815794	Wdr91	WD repeat domain 91	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8815817	Sec23ip	SEC23 interacting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8815817	Sec23ip	SEC23 interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815817	Sec23ip	SEC23 interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8815817	Sec23ip	SEC23 interacting protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8815817	Sec23ip	SEC23 interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8815817	Sec23ip	SEC23 interacting protein	gene	DOID:1909	melanoma		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8815817	Sec23ip	SEC23 interacting protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8815817	Sec23ip	SEC23 interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8815817	Sec23ip	SEC23 interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815817	Sec23ip	SEC23 interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8815817	Sec23ip	SEC23 interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8815817	Sec23ip	SEC23 interacting protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8815848	Lect2	leukocyte cell derived chemotaxin 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1313416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8815848	Lect2	leukocyte cell derived chemotaxin 2	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1313416	D	RGD:9068941	20220818	RGD		human cells in mouse model	PMID:30453282|REF_RGD_ID:153323337
8815848	Lect2	leukocyte cell derived chemotaxin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815848	Lect2	leukocyte cell derived chemotaxin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313416	D	RGD:9068941	20220818	RGD		protein:increased expression:blood serum (human)	PMID:24892551|REF_RGD_ID:153323333
8815848	Lect2	leukocyte cell derived chemotaxin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313417	D	RGD:9068941	20220818	RGD		protein:increased expression:blood serum (mouse)	PMID:24892551|REF_RGD_ID:153323333
8815848	Lect2	leukocyte cell derived chemotaxin 2	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1313416	D	RGD:9068941	20220818	RGD		human cells in mouse model	PMID:21394108|REF_RGD_ID:153323335
8815848	Lect2	leukocyte cell derived chemotaxin 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1313416	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:30453282
8815848	Lect2	leukocyte cell derived chemotaxin 2	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1313416	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:30453282
8815848	Lect2	leukocyte cell derived chemotaxin 2	gene	DOID:9003690	Carcinoma, Lewis Lung		ISO	RGD:1313416	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:30453282
8815848	Lect2	leukocyte cell derived chemotaxin 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1313416	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:30453282
8815895	Ahnak	AHNAK nucleoprotein	gene	DOID:0080600	COVID-19		ISO	RGD:1345625	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:CD4+ T cells (human)	PMID:32377375|REF_RGD_ID:32716422
8815895	Ahnak	AHNAK nucleoprotein	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1345625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	
8815895	Ahnak	AHNAK nucleoprotein	gene	DOID:10534	stomach cancer		ISO	RGD:1345625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8815895	Ahnak	AHNAK nucleoprotein	gene	DOID:1115	sarcoma		ISO	RGD:1345625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8815895	Ahnak	AHNAK nucleoprotein	gene	DOID:11372	megacolon		ISO	RGD:1345625	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
8815895	Ahnak	AHNAK nucleoprotein	gene	DOID:1909	melanoma		ISO	RGD:1345625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8815895	Ahnak	AHNAK nucleoprotein	gene	DOID:417	autoimmune disease		ISO	RGD:619779	D	RGD:9068941	20200609	RGD			PMID:11866458|REF_RGD_ID:625427
8815895	Ahnak	AHNAK nucleoprotein	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1345625	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138691
8815895	Ahnak	AHNAK nucleoprotein	gene	DOID:5041	esophageal cancer		ISO	RGD:1345625	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8815895	Ahnak	AHNAK nucleoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815895	Ahnak	AHNAK nucleoprotein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8815895	Ahnak	AHNAK nucleoprotein	gene	DOID:9001341	Chloracne		ISO	RGD:1345625	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
8815895	Ahnak	AHNAK nucleoprotein	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1345625	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8815895	Ahnak	AHNAK nucleoprotein	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1345625	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:20388789
8815895	Ahnak	AHNAK nucleoprotein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815895	Ahnak	AHNAK nucleoprotein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345625	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8815895	Ahnak	AHNAK nucleoprotein	gene	DOID:9256	colorectal cancer		ISO	RGD:1345625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8815909	Pacsin1	protein kinase C and casein kinase substrate in neurons 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815909	Pacsin1	protein kinase C and casein kinase substrate in neurons 1	gene	DOID:10534	stomach cancer		ISO	RGD:736787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8815909	Pacsin1	protein kinase C and casein kinase substrate in neurons 1	gene	DOID:1115	sarcoma		ISO	RGD:736787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8815909	Pacsin1	protein kinase C and casein kinase substrate in neurons 1	gene	DOID:1324	lung cancer		ISO	RGD:736787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8815909	Pacsin1	protein kinase C and casein kinase substrate in neurons 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815923	Kif5c	kinesin family member 5C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8815923	Kif5c	kinesin family member 5C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8815923	Kif5c	kinesin family member 5C	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1318371	D	RGD:9068941	20200609	RGD		mRNA:increased expression:frontal cortex, cerebellum (mouse)	PMID:23006449|REF_RGD_ID:12798528
8815923	Kif5c	kinesin family member 5C	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1318370	D	RGD:8554872	20250114	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:25741868|PMID:27391121
8815923	Kif5c	kinesin family member 5C	gene	DOID:0090133	complex cortical dysplasia with other brain malformations 2		ISO	RGD:1318370	D	RGD:7240710	20180130	OMIM			
8815923	Kif5c	kinesin family member 5C	gene	DOID:0090133	complex cortical dysplasia with other brain malformations 2		ISO	RGD:1318370	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 | ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 2 | ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 2 | ClinVar Annotator: match by term: KIF5C-related condition	PMID:23033978|PMID:23603762|PMID:24088041|PMID:24812067|PMID:25140959|PMID:25741868|PMID:26633545|PMID:29048727|PMID:32562872|PMID:34490615|PMID:35231114|PMID:39503049
8815923	Kif5c	kinesin family member 5C	gene	DOID:0110042	Alzheimer's disease 3		ISO	RGD:1318370	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebellum (human)	PMID:24569455|REF_RGD_ID:12859086
8815923	Kif5c	kinesin family member 5C	gene	DOID:1059	intellectual disability		ISO	RGD:1318370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8815923	Kif5c	kinesin family member 5C	gene	DOID:10907	microcephaly		ISO	RGD:1318370	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23603762
8815923	Kif5c	kinesin family member 5C	gene	DOID:1115	sarcoma		ISO	RGD:1318370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8815923	Kif5c	kinesin family member 5C	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:1318370	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Duane retraction syndrome	PMID:25741868
8815923	Kif5c	kinesin family member 5C	gene	DOID:127	leiomyoma		ISO	RGD:1318370	D	RGD:9068941	20200609	RGD		mRNA:increased expression:myometrium (human)	PMID:20396563|REF_RGD_ID:12859089
8815923	Kif5c	kinesin family member 5C	gene	DOID:3275	thymoma		ISO	RGD:1318370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8815923	Kif5c	kinesin family member 5C	gene	DOID:5419	schizophrenia		ISO	RGD:1318370	D	RGD:9068941	20200609	RGD		DNA:snp:enhancer:T>C (rs10929935) (human)	PMID:24581549|REF_RGD_ID:12859088
8815923	Kif5c	kinesin family member 5C	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8815923	Kif5c	kinesin family member 5C	gene	DOID:560	jaw-winking syndrome		ISO	RGD:1318370	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Jaw-winking syndrome	PMID:25741868
8815923	Kif5c	kinesin family member 5C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815923	Kif5c	kinesin family member 5C	gene	DOID:630	genetic disease		ISO	RGD:1318370	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8815923	Kif5c	kinesin family member 5C	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8815923	Kif5c	kinesin family member 5C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815923	Kif5c	kinesin family member 5C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:731730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18252227|PMID:20844286
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:0080178	mucositis		ISO	RGD:731730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mucositis	PMID:18600544|PMID:25741868
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:0080600	COVID-19		ISO	RGD:731730	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:10283	prostate cancer		ISO	RGD:731730	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:10283	prostate cancer		ISO	RGD:731730	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:10534	stomach cancer		ISO	RGD:731730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:1115	sarcoma		ISO	RGD:731730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:1227	neutropenia		ISO	RGD:731730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12562666
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:12849	autistic disorder		ISO	RGD:731730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:11156223|PMID:11783493|PMID:11988088|PMID:16115930|PMID:17064846|PMID:17121937|PMID:17700593|PMID:18299612|PMID:19104657|PMID:19795123|PMID:20819423|PMID:21077799|PMID:21410976|PMID:21498394|PMID:22992668|PMID:23588312|PMID:23603345|PMID:23736036|PMID:23930673|PMID:23988873|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26265346|PMID:26603945|PMID:26794347|PMID:26804652|PMID:27122156|PMID:27454530|PMID:27995989|PMID:28295243|PMID:28427087|PMID:28481884|PMID:28492532|PMID:29065426|PMID:29152729|PMID:29846282|PMID:29889674|PMID:29998006|PMID:30114658|PMID:30485432|PMID:30510603|PMID:30723313|PMID:30858516|PMID:31124962|PMID:31486738|PMID:31745289|PMID:32595208|PMID:33232506
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:1324	lung cancer		ISO	RGD:731730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:14218	dihydropyrimidine dehydrogenase deficiency		ISO	RGD:731730	D	RGD:7240710	20180130	OMIM			
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:14218	dihydropyrimidine dehydrogenase deficiency		ISO	RGD:731730	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY | ClinVar Annotator: match by term: DPYD-related condition | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar Annotator: match by term: Hereditary Thymine-Uraciluria	PMID:10071185|PMID:11156223|PMID:11783493|PMID:11988088|PMID:12562666|PMID:12912951|PMID:14635116|PMID:15591715|PMID:15899693|PMID:16115930|PMID:16361556|PMID:17046731|PMID:17064846|PMID:17121937|PMID:17417073|PMID:17700593|PMID:17828463|PMID:17848752|PMID:17905396|PMID:18299612|PMID:18600544|PMID:18937829|PMID:19104657|PMID:19287123|PMID:19288105|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19822137|PMID:20803296|PMID:20819423|PMID:21077799|PMID:21410976|PMID:21420945|PMID:21498394|PMID:21833589|PMID:21878539|PMID:21919607|PMID:22353294|PMID:22992668|PMID:22995991|PMID:23042115|PMID:23335937|PMID:23481061|PMID:23517808|PMID:23588312|PMID:23603345|PMID:23736036|PMID:23781135|PMID:23930673|PMID:23942539|PMID:23988873|PMID:24037119|PMID:24107927|PMID:24167597|PMID:24310106|PMID:24388031|PMID:24434920|PMID:24590654|PMID:24647007|PMID:2464834|PMID:24648345|PMID:24923815|PMID:25087612|PMID:25117664|PMID:25381393|PMID:25410891|PMID:25420024|PMID:25565930|PMID:25677447|PMID:25741868|PMID:25782327|PMID:26099996|PMID:26216193|PMID:26254383|PMID:26265035|PMID:26265346|PMID:26330892|PMID:26467025|PMID:26603945|PMID:26623034|PMID:26651493|PMID:26658227|PMID:26794347|PMID:26804235|PMID:26804652|PMID:26846104|PMID:27122156|PMID:27248859|PMID:27311679|PMID:27454530|PMID:27544765|PMID:27727460|PMID:27752409|PMID:27995989|PMID:28024938|PMID:28112993|PMID:28295243|PMID:28427087|PMID:28481884|PMID:28492532|PMID:28614820|PMID:28929491|PMID:29045550|PMID:29065426|PMID:29152729|PMID:29236957|PMID:29327356|PMID:29769267|PMID:29846282|PMID:29889674|PMID:29998006|PMID:30114658|PMID:30349988|PMID:30485432|PMID:30510603|PMID:30723313|PMID:30858516|PMID:30945278|PMID:31124962|PMID:31486738|PMID:31589614|PMID:31690835|PMID:31745289|PMID:32595208|PMID:32619063|PMID:32707991|PMID:32899374|PMID:32973300|PMID:33083013|PMID:33232506|PMID:33410339|PMID:33965356|PMID:34055682|PMID:34916829|PMID:35306539|PMID:36430399|PMID:38216550|PMID:39113696|PMID:9439663|PMID:9686374|PMID:9865912
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:1793	pancreatic cancer		ISO	RGD:731730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17443278|PMID:19020767
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:1793	pancreatic cancer		ISO	RGD:731730	D	RGD:9068941	20200609	RGD			PMID:18309485|REF_RGD_ID:2317630
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:731730	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:20072795|REF_RGD_ID:2317629
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:1826	epilepsy		ISO	RGD:731730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:1909	melanoma		ISO	RGD:731730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:3121	gallbladder cancer	disease_progression	ISO	RGD:731730	D	RGD:9068941	20200609	RGD			PMID:16619549|REF_RGD_ID:2317631
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:3275	thymoma		ISO	RGD:731730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:409	liver disease		ISO	RGD:621218	D	RGD:9068941	20200609	RGD		mRNA, Protein:increased expression	PMID:10348793|REF_RGD_ID:1599789
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:4362	cervical cancer		ISO	RGD:731730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:5419	schizophrenia		ISO	RGD:731730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266|PMID:23042115
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:574	peripheral nervous system disease		ISO	RGD:731730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864405
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:630	genetic disease		ISO	RGD:731730	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11156223|PMID:11783493|PMID:11988088|PMID:16115930|PMID:17064846|PMID:17121937|PMID:17700593|PMID:18299612|PMID:19104657|PMID:19473056|PMID:19795123|PMID:20819423|PMID:21077799|PMID:21410976|PMID:21420945|PMID:21498394|PMID:22992668|PMID:23588312|PMID:23603345|PMID:23736036|PMID:23930673|PMID:23988873|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26265346|PMID:26603945|PMID:26794347|PMID:26804652|PMID:27122156|PMID:27454530|PMID:27995989|PMID:28295243|PMID:28427087|PMID:28481884|PMID:28492532|PMID:29065426|PMID:29152729|PMID:29327356|PMID:29769267|PMID:29846282|PMID:29889674|PMID:29998006|PMID:30114658|PMID:30485432|PMID:30510603|PMID:30723313|PMID:30858516|PMID:31124962|PMID:31486738|PMID:31745289|PMID:32595208|PMID:33232506
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:653	purine-pyrimidine metabolic disorder		ISO	RGD:731730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15571261|PMID:3335642
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18019677
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:863	nervous system disease		ISO	RGD:731730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16435204
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:731730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15837757|PMID:17089033|PMID:18652704
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:731730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17611699
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:731730	D	RGD:9068941	20200609	RGD		associated with Colonic Neoplasms	PMID:11383214|REF_RGD_ID:11251755
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:731730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11148247
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:731730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18652704
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9004278	Sarcoma, Yoshida	treatment	ISO	RGD:621218	D	RGD:9068941	20200609	RGD			PMID:8138551|REF_RGD_ID:11251753
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9004486	Drug-induced Neutropenia	no_association	ISO	RGD:731730	D	RGD:9068941	20200609	RGD		associated with Neoplasms;DNA:missense mutations: :multiple	PMID:19473056|REF_RGD_ID:11098817
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9004486	Drug-induced Neutropenia	treatment	ISO	RGD:731730	D	RGD:9068941	20200609	RGD		DNA:splice-site mutation, missense mutations: :multiple	PMID:11156223|REF_RGD_ID:11251738
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9004486	Drug-induced Neutropenia	treatment	ISO	RGD:731730	D	RGD:9068941	20200609	RGD		associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (human)	PMID:23942539|REF_RGD_ID:11251737
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9004486	Drug-induced Neutropenia	treatment	ISO	RGD:731730	D	RGD:9068941	20200609	RGD		associated with Neoplasms;DNA:missense mutation: :p.M166V (496A>G) (human)	PMID:19473056|REF_RGD_ID:11098817
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9004486	Drug-induced Neutropenia	treatment	ISO	RGD:731730	D	RGD:9068941	20200609	RGD		associated with Neoplasms;DNA:splice-site mutation:intron:IVS14+1G>A (human)	PMID:12209976|REF_RGD_ID:11251736
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9004593	Drug-Induced Immune Thrombocytopenia	treatment	ISO	RGD:731730	D	RGD:9068941	20200609	RGD		associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human)	PMID:19473056|REF_RGD_ID:11098817
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9004593	Drug-Induced Immune Thrombocytopenia	treatment	ISO	RGD:731730	D	RGD:9068941	20200609	RGD		associated with Stomach Neoplasms	PMID:23064955|REF_RGD_ID:11251740
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:731730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19020767
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9005466	Language Development Disorders		ISO	RGD:731730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21114665
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9006169	Head and Neck Neoplasms		ISO	RGD:731730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19020767
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:731730	D	RGD:9068941	20220616	RGD		DNA:SNP:cds:rs12119882 (human)	PMID:28347776|REF_RGD_ID:152995291
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:731730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15222106|PMID:15814641|PMID:17047489|PMID:17611699|PMID:19020767
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:731730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19020767
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9256	colorectal cancer		ISO	RGD:621218	D	RGD:9068941	20200609	RGD		protein:increased activity:liver	PMID:23197286|REF_RGD_ID:11251746
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:731730	D	RGD:9068941	20200609	RGD		DNA:SNP: :85T>C (human)	PMID:26846104|REF_RGD_ID:11098453
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9952	acute lymphoblastic leukemia	disease_progression	ISO	RGD:731730	D	RGD:9068941	20200609	RGD		DNA:splice-site mutation:intron:IVS14+1G>A (human)	PMID:26846104|REF_RGD_ID:11098453
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9952	acute lymphoblastic leukemia	no_association	ISO	RGD:731730	D	RGD:9068941	20200609	RGD		DNA:SNPs: :2194G>A, 1156G>T (human)	PMID:26846104|REF_RGD_ID:11098453
8815965	Dpyd	dihydropyrimidine dehydrogenase	gene	DOID:9970	obesity		ISO	RGD:731730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
8815991	Zp4	zona pellucida glycoprotein 4	gene	DOID:10283	prostate cancer		ISO	RGD:1345250	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8815991	Zp4	zona pellucida glycoprotein 4	gene	DOID:10283	prostate cancer		ISO	RGD:1345250	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8815991	Zp4	zona pellucida glycoprotein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8815991	Zp4	zona pellucida glycoprotein 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8816005	St8sia1	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1603707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8816005	St8sia1	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1603707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8816005	St8sia1	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	gene	DOID:3602	toxic encephalopathy		ISO	RGD:1603707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
8816005	St8sia1	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	gene	DOID:409	liver disease		ISO	RGD:1603707	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
8816005	St8sia1	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603707	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8816005	St8sia1	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816005	St8sia1	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8816005	St8sia1	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8816014	Strada	STE20 related adaptor alpha	gene	DOID:0050902	medulloblastoma		ISO	RGD:1606991	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21652733
8816014	Strada	STE20 related adaptor alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8816014	Strada	STE20 related adaptor alpha	gene	DOID:0070511	polyhydramnios, megalencephaly, and symptomatic epilepsy		ISO	RGD:1606991	D	RGD:7240710	20180130	OMIM			
8816014	Strada	STE20 related adaptor alpha	gene	DOID:0070511	polyhydramnios, megalencephaly, and symptomatic epilepsy		ISO	RGD:1606991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PMSE SYNDROME | ClinVar Annotator: match by term: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY | ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy	PMID:16199547|PMID:17522105|PMID:17576681|PMID:25741868|PMID:27170158|PMID:28492532|PMID:29358611|PMID:9536098
8816014	Strada	STE20 related adaptor alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1606991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8816014	Strada	STE20 related adaptor alpha	gene	DOID:1059	intellectual disability		ISO	RGD:1606991	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual deficiency	PMID:25741868
8816014	Strada	STE20 related adaptor alpha	gene	DOID:1115	sarcoma		ISO	RGD:1606991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8816014	Strada	STE20 related adaptor alpha	gene	DOID:1324	lung cancer		ISO	RGD:1606991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8816014	Strada	STE20 related adaptor alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1606991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8816014	Strada	STE20 related adaptor alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816014	Strada	STE20 related adaptor alpha	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8816014	Strada	STE20 related adaptor alpha	gene	DOID:630	genetic disease		ISO	RGD:1606991	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8816014	Strada	STE20 related adaptor alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816014	Strada	STE20 related adaptor alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8816049	Rpl37a	ribosomal protein L37a	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8816049	Rpl37a	ribosomal protein L37a	gene	DOID:10534	stomach cancer		ISO	RGD:1317728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8816049	Rpl37a	ribosomal protein L37a	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1317728	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8816049	Rpl37a	ribosomal protein L37a	gene	DOID:4362	cervical cancer		ISO	RGD:1317728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8816049	Rpl37a	ribosomal protein L37a	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816049	Rpl37a	ribosomal protein L37a	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816049	Rpl37a	ribosomal protein L37a	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8816062	Rnf138	ring finger protein 138	gene	DOID:0080600	COVID-19		ISO	RGD:1605080	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8816062	Rnf138	ring finger protein 138	gene	DOID:1115	sarcoma		ISO	RGD:1605080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8816062	Rnf138	ring finger protein 138	gene	DOID:1324	lung cancer		ISO	RGD:1605080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8816062	Rnf138	ring finger protein 138	gene	DOID:1909	melanoma		ISO	RGD:1605080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8816062	Rnf138	ring finger protein 138	gene	DOID:3070	high grade glioma		ISO	RGD:1605080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8816062	Rnf138	ring finger protein 138	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8816062	Rnf138	ring finger protein 138	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816062	Rnf138	ring finger protein 138	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816062	Rnf138	ring finger protein 138	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8816075	Serpinb1	serpin family B member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314687	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8816075	Serpinb1	serpin family B member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8816075	Serpinb1	serpin family B member 1	gene	DOID:1115	sarcoma		ISO	RGD:1314687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8816075	Serpinb1	serpin family B member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816075	Serpinb1	serpin family B member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8816075	Serpinb1	serpin family B member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816103	Cpxm2	carboxypeptidase X, M14 family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8816103	Cpxm2	carboxypeptidase X, M14 family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8816103	Cpxm2	carboxypeptidase X, M14 family member 2	gene	DOID:1115	sarcoma		ISO	RGD:1345488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8816103	Cpxm2	carboxypeptidase X, M14 family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1345488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8816103	Cpxm2	carboxypeptidase X, M14 family member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8816103	Cpxm2	carboxypeptidase X, M14 family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345488	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8816103	Cpxm2	carboxypeptidase X, M14 family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1345488	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8816103	Cpxm2	carboxypeptidase X, M14 family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816103	Cpxm2	carboxypeptidase X, M14 family member 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1345488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8816103	Cpxm2	carboxypeptidase X, M14 family member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8816103	Cpxm2	carboxypeptidase X, M14 family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816103	Cpxm2	carboxypeptidase X, M14 family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8816121	Il18	interleukin 18	gene	DOID:0050120	hemophagocytic lymphohistiocytosis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with Epstein-Barr Virus Infections;protein:increased expression:serum	PMID:20472718|REF_RGD_ID:8655917
8816121	Il18	interleukin 18	gene	DOID:0050847	sleep apnea	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:19187612|REF_RGD_ID:4889903
8816121	Il18	interleukin 18	gene	DOID:0051061	stroke		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:21171972|REF_RGD_ID:4891154
8816121	Il18	interleukin 18	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16428475|REF_RGD_ID:8655925
8816121	Il18	interleukin 18	gene	DOID:0060319	cardiac arrest		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:18679114|REF_RGD_ID:4889454
8816121	Il18	interleukin 18	gene	DOID:0070227	intrahepatic cholestasis of pregnancy	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:28697498|REF_RGD_ID:14696655
8816121	Il18	interleukin 18	gene	DOID:0080162	lupus nephritis		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:20980973|REF_RGD_ID:6893449
8816121	Il18	interleukin 18	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:20422882|REF_RGD_ID:14696664
8816121	Il18	interleukin 18	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:28660148|REF_RGD_ID:14696674
8816121	Il18	interleukin 18	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:24006666|REF_RGD_ID:8655964
8816121	Il18	interleukin 18	gene	DOID:0080600	COVID-19		ISO	RGD:730894	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8816121	Il18	interleukin 18	gene	DOID:0080600	COVID-19		ISO	RGD:730894	D	RGD:9068941	20200820	RGD		protein:increased expression:plasma (human)	PMID:32696007|REF_RGD_ID:38501088
8816121	Il18	interleukin 18	gene	DOID:0080600	COVID-19	severity	ISO	RGD:730894	D	RGD:9068941	20200618	RGD		protein:increased expression:plasma (human)	PMID:32360286|REF_RGD_ID:30309209
8816121	Il18	interleukin 18	gene	DOID:0080745	polymyositis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20601655|REF_RGD_ID:4889547
8816121	Il18	interleukin 18	gene	DOID:0080784	urinary tract infection		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:19171043|REF_RGD_ID:2311084
8816121	Il18	interleukin 18	gene	DOID:0081120	Graves ophthalmopathy	treatment	ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:12689659|REF_RGD_ID:8655878
8816121	Il18	interleukin 18	gene	DOID:10223	dermatomyositis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20601655|REF_RGD_ID:4889547
8816121	Il18	interleukin 18	gene	DOID:10457	Legionnaires' disease		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:11083766|REF_RGD_ID:4889865
8816121	Il18	interleukin 18	gene	DOID:10955	strongyloidiasis	treatment	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:16129701|REF_RGD_ID:8655932
8816121	Il18	interleukin 18	gene	DOID:11162	respiratory failure		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with pancreatitis; protein:increased expression:plasma	PMID:19357034|REF_RGD_ID:4889556
8816121	Il18	interleukin 18	gene	DOID:11335	sarcoidosis		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16100009
8816121	Il18	interleukin 18	gene	DOID:11335	sarcoidosis	disease_progression	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:17015003|REF_RGD_ID:4889815
8816121	Il18	interleukin 18	gene	DOID:11396	pulmonary edema		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:19394645|REF_RGD_ID:4889555
8816121	Il18	interleukin 18	gene	DOID:114	heart disease		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:20644901|REF_RGD_ID:4889158
8816121	Il18	interleukin 18	gene	DOID:1205	allergic disease		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8816121	Il18	interleukin 18	gene	DOID:12351	alcoholic hepatitis	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated alcoholic liver cirrhosis;  protein:increased expression:plasma:	PMID:15566508|REF_RGD_ID:14696666
8816121	Il18	interleukin 18	gene	DOID:12361	Graves' disease		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:12689659|REF_RGD_ID:8655878
8816121	Il18	interleukin 18	gene	DOID:12361	Graves' disease	no_association	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter, exon:multiple	PMID:16571086|REF_RGD_ID:8655916
8816121	Il18	interleukin 18	gene	DOID:12662	paracoccidioidomycosis	treatment	ISO	RGD:730894	D	RGD:9068941	20201015	RGD			PMID:28992214|REF_RGD_ID:39938858
8816121	Il18	interleukin 18	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron:rs360721 (human)	PMID:18043444|REF_RGD_ID:4889584
8816121	Il18	interleukin 18	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:20130064|REF_RGD_ID:4889550
8816121	Il18	interleukin 18	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:saliva	PMID:23906036|REF_RGD_ID:8655918
8816121	Il18	interleukin 18	gene	DOID:13141	uveitis	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:22562515|REF_RGD_ID:8655982
8816121	Il18	interleukin 18	gene	DOID:13241	Behcet's disease		ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:14727452|REF_RGD_ID:4889844
8816121	Il18	interleukin 18	gene	DOID:13241	Behcet's disease	no_association	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human)	PMID:16273766|REF_RGD_ID:8655910
8816121	Il18	interleukin 18	gene	DOID:13241	Behcet's disease	no_association	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human)	PMID:21532063|REF_RGD_ID:8655926
8816121	Il18	interleukin 18	gene	DOID:13241	Behcet's disease	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)	PMID:17055358|REF_RGD_ID:8655897
8816121	Il18	interleukin 18	gene	DOID:13241	Behcet's disease	susceptibility	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:15234532|REF_RGD_ID:8655927
8816121	Il18	interleukin 18	gene	DOID:13375	temporal arteritis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-607C>A (rs1946518), -1297T>C (rs360719) (human)	PMID:20331879|REF_RGD_ID:8655865
8816121	Il18	interleukin 18	gene	DOID:13375	temporal arteritis	no_association	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-137G>C (rs187238) (human)	PMID:20331879|REF_RGD_ID:8655865
8816121	Il18	interleukin 18	gene	DOID:13378	Kawasaki disease		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:silent mutation, haplotypes:cds:c.105A>C (rs549908)  (human)	PMID:19288449|REF_RGD_ID:8655898
8816121	Il18	interleukin 18	gene	DOID:13378	Kawasaki disease	disease_progression	ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:15345916|REF_RGD_ID:8655924
8816121	Il18	interleukin 18	gene	DOID:13378	Kawasaki disease	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:promoter:-137G>C, -607C>A, -656G>T (rs187238, rs1946519, rs1946518) (human)	PMID:18484687|REF_RGD_ID:8655874
8816121	Il18	interleukin 18	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:bronchoalveolar lavage fluid	PMID:16734560|REF_RGD_ID:4889823
8816121	Il18	interleukin 18	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:11174201|REF_RGD_ID:4889863
8816121	Il18	interleukin 18	gene	DOID:13608	biliary atresia		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:10726686|REF_RGD_ID:14695529
8816121	Il18	interleukin 18	gene	DOID:13608	biliary atresia	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human)	PMID:30059753|REF_RGD_ID:14695528
8816121	Il18	interleukin 18	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21273262
8816121	Il18	interleukin 18	gene	DOID:1485	cystic fibrosis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20026745|REF_RGD_ID:4889551
8816121	Il18	interleukin 18	gene	DOID:1555	urticaria		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18204966
8816121	Il18	interleukin 18	gene	DOID:1555	urticaria		ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:24490166|REF_RGD_ID:8655890
8816121	Il18	interleukin 18	gene	DOID:1555	urticaria		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)	PMID:21692767|REF_RGD_ID:8655894
8816121	Il18	interleukin 18	gene	DOID:1612	breast cancer		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-137G>C (rs187238) (human)	PMID:19152241|REF_RGD_ID:8655899
8816121	Il18	interleukin 18	gene	DOID:1612	breast cancer		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:12209760|REF_RGD_ID:8655866
8816121	Il18	interleukin 18	gene	DOID:1612	breast cancer	no_association	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-607C>A (rs1946518) (human)	PMID:19152241|REF_RGD_ID:8655899
8816121	Il18	interleukin 18	gene	DOID:1679	cystitis		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		protein:increased expression:urine, bladder	PMID:18848347|REF_RGD_ID:2317284
8816121	Il18	interleukin 18	gene	DOID:182	calcinosis		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
8816121	Il18	interleukin 18	gene	DOID:1824	status epilepticus		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:20674684|REF_RGD_ID:4889491
8816121	Il18	interleukin 18	gene	DOID:1883	hepatitis C		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:27927859|REF_RGD_ID:14696653
8816121	Il18	interleukin 18	gene	DOID:1883	hepatitis C	disease_progression	ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:21984735|REF_RGD_ID:14696657
8816121	Il18	interleukin 18	gene	DOID:1883	hepatitis C	disease_progression	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-607C>A, -137G>C(human)	PMID:18781864|REF_RGD_ID:14695527
8816121	Il18	interleukin 18	gene	DOID:1883	hepatitis C	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-607C>A (rs1946518)(human)	PMID:26486291|REF_RGD_ID:14696654
8816121	Il18	interleukin 18	gene	DOID:1883	hepatitis C	treatment	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-137G>C,-607C>A(human)	PMID:19455410|REF_RGD_ID:14695530
8816121	Il18	interleukin 18	gene	DOID:1909	melanoma		ISO	RGD:730894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8816121	Il18	interleukin 18	gene	DOID:1936	atherosclerosis		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:16732281|REF_RGD_ID:14695532
8816121	Il18	interleukin 18	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:23685195|REF_RGD_ID:8655997
8816121	Il18	interleukin 18	gene	DOID:2043	hepatitis B	disease_progression	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter,intron,exon:���148G>C, +8925C>G,+13925A>C(human)	PMID:19466545|REF_RGD_ID:14696658
8816121	Il18	interleukin 18	gene	DOID:2043	hepatitis B	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with hepatocellular carcinoma; DNA:SNP:promoter:-137G>C(rs187238)(human)	PMID:27429592|REF_RGD_ID:14695540
8816121	Il18	interleukin 18	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21227906
8816121	Il18	interleukin 18	gene	DOID:2316	brain ischemia		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:11807395|REF_RGD_ID:4889510
8816121	Il18	interleukin 18	gene	DOID:2316	brain ischemia		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15829914
8816121	Il18	interleukin 18	gene	DOID:2723	dermatitis		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:12925208|REF_RGD_ID:8655896
8816121	Il18	interleukin 18	gene	DOID:2773	contact dermatitis		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
8816121	Il18	interleukin 18	gene	DOID:2841	asthma		ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:20497957|REF_RGD_ID:4889898
8816121	Il18	interleukin 18	gene	DOID:2841	asthma		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:18826499|PMID:20497957|REF_RGD_ID:4889898|REF_RGD_ID:4889908
8816121	Il18	interleukin 18	gene	DOID:2841	asthma	disease_progression	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:11174201|REF_RGD_ID:4889863
8816121	Il18	interleukin 18	gene	DOID:2841	asthma	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter: c.-380C>G (rs5744247)(human)	PMID:19745201|REF_RGD_ID:4889900
8816121	Il18	interleukin 18	gene	DOID:2841	asthma	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:Promoter:c. -607C>A (rs1946518), -137G/C (rs187238) (human)	PMID:17767553|REF_RGD_ID:4889585
8816121	Il18	interleukin 18	gene	DOID:2841	asthma	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:c.and -137G>C (rs187238)(human)	PMID:16433859|REF_RGD_ID:4889923
8816121	Il18	interleukin 18	gene	DOID:2841	asthma	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :c. -105A>C (human)	PMID:18200581|REF_RGD_ID:4889910
8816121	Il18	interleukin 18	gene	DOID:2921	glomerulonephritis		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18462998
8816121	Il18	interleukin 18	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:730894	D	RGD:9068941	20200702	RGD		protein:increased expression:serum (human)	PMID:15602737|REF_RGD_ID:32716399
8816121	Il18	interleukin 18	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15955140|REF_RGD_ID:4889836
8816121	Il18	interleukin 18	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:22518072|REF_RGD_ID:6893446
8816121	Il18	interleukin 18	gene	DOID:2987	familial Mediterranean fever		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16273770|REF_RGD_ID:8655877
8816121	Il18	interleukin 18	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:21263407|REF_RGD_ID:8655888
8816121	Il18	interleukin 18	gene	DOID:3021	acute kidney failure		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:11342578|REF_RGD_ID:6893450
8816121	Il18	interleukin 18	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27585668
8816121	Il18	interleukin 18	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:730895	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin	PMID:9781803|REF_RGD_ID:8655902
8816121	Il18	interleukin 18	gene	DOID:3042	allergic contact dermatitis	treatment	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:12874202|REF_RGD_ID:8655940
8816121	Il18	interleukin 18	gene	DOID:3070	high grade glioma	treatment	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:18725309|REF_RGD_ID:8657054
8816121	Il18	interleukin 18	gene	DOID:3082	interstitial lung disease		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		associated with Pseudomonas Infection; protein:increased expression:lung	PMID:20543002|REF_RGD_ID:4889883
8816121	Il18	interleukin 18	gene	DOID:3082	interstitial lung disease		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with dermatomyositis; protein:increased expression:serum	PMID:20601655|REF_RGD_ID:4889547
8816121	Il18	interleukin 18	gene	DOID:3082	interstitial lung disease		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:21257923|REF_RGD_ID:5144220
8816121	Il18	interleukin 18	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20026745|REF_RGD_ID:4889551
8816121	Il18	interleukin 18	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum, macrophage	PMID:19208460|REF_RGD_ID:4889575
8816121	Il18	interleukin 18	gene	DOID:326	ischemia		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:21289055|REF_RGD_ID:6893448
8816121	Il18	interleukin 18	gene	DOID:3310	atopic dermatitis		ISO	RGD:730895	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:11490156|REF_RGD_ID:8655908
8816121	Il18	interleukin 18	gene	DOID:3310	atopic dermatitis		ISO	RGD:730895	D	RGD:9068941	20240425	MouseDO		OMIM:603165	
8816121	Il18	interleukin 18	gene	DOID:3310	atopic dermatitis	no_association	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-137G>C (rs187238) (human)	PMID:22840759|REF_RGD_ID:8655914
8816121	Il18	interleukin 18	gene	DOID:3310	atopic dermatitis	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-140C>G (rs360721) (human)	PMID:22840759|REF_RGD_ID:8655914
8816121	Il18	interleukin 18	gene	DOID:3310	atopic dermatitis	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype: :rs795467, rs4937113, rs5744247 (human)	PMID:17517100|REF_RGD_ID:8655876
8816121	Il18	interleukin 18	gene	DOID:3310	atopic dermatitis	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15317323|REF_RGD_ID:8655872
8816121	Il18	interleukin 18	gene	DOID:3526	cerebral infarction	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:20584315|REF_RGD_ID:8655991
8816121	Il18	interleukin 18	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		idiopathic pulmonary fibrosis; protein:increased expression:lung, serum	PMID:15308504|REF_RGD_ID:4889841
8816121	Il18	interleukin 18	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:730895	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:18598692|REF_RGD_ID:4889581
8816121	Il18	interleukin 18	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15955140|REF_RGD_ID:4889836
8816121	Il18	interleukin 18	gene	DOID:4079	heart valve disease		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
8816121	Il18	interleukin 18	gene	DOID:4481	allergic rhinitis	no_association	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-140C>G (rs360721) (human)	PMID:22840759|REF_RGD_ID:8655914
8816121	Il18	interleukin 18	gene	DOID:4481	allergic rhinitis	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-137G>C (rs187238) (human)	PMID:22840759|REF_RGD_ID:8655914
8816121	Il18	interleukin 18	gene	DOID:4483	rhinitis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17323858|REF_RGD_ID:4889916
8816121	Il18	interleukin 18	gene	DOID:4483	rhinitis		ISO	RGD:730895	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal lavage fluid, bronchoalveolar lavage fluid	PMID:17305282|REF_RGD_ID:4889917
8816121	Il18	interleukin 18	gene	DOID:4483	rhinitis	disease_progression	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		rhinitis allergic, seasonal; protein:increased expression:plasma	PMID:15934281|REF_RGD_ID:4889927
8816121	Il18	interleukin 18	gene	DOID:4724	brain edema	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD		associated with Status Epilepticus	PMID:22338606|REF_RGD_ID:6771363
8816121	Il18	interleukin 18	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:22046355|REF_RGD_ID:6893447
8816121	Il18	interleukin 18	gene	DOID:4989	pancreatitis		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19238530|REF_RGD_ID:4889404
8816121	Il18	interleukin 18	gene	DOID:4989	pancreatitis	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:23983797|REF_RGD_ID:8655988
8816121	Il18	interleukin 18	gene	DOID:5082	liver cirrhosis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic;mRNA:increased expression:PBMC:	PMID:19740312|REF_RGD_ID:14696656
8816121	Il18	interleukin 18	gene	DOID:5082	liver cirrhosis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:12462332|REF_RGD_ID:14695542
8816121	Il18	interleukin 18	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic;mRNA:increased expression:PBMC:	PMID:19740312|REF_RGD_ID:14696656
8816121	Il18	interleukin 18	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with hepatitis C; protein:increased expression:serum:	PMID:27927859|REF_RGD_ID:14696653
8816121	Il18	interleukin 18	gene	DOID:526	human immunodeficiency virus infectious disease	treatment	ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:27927859|REF_RGD_ID:14696653
8816121	Il18	interleukin 18	gene	DOID:552	pneumonia		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung,bronchoalveolar fluid	PMID:11739527|REF_RGD_ID:729357
8816121	Il18	interleukin 18	gene	DOID:552	pneumonia		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8816121	Il18	interleukin 18	gene	DOID:552	pneumonia		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15955140|REF_RGD_ID:4889836
8816121	Il18	interleukin 18	gene	DOID:552	pneumonia		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:17400729|REF_RGD_ID:4889590
8816121	Il18	interleukin 18	gene	DOID:552	pneumonia		ISO	RGD:730895	D	RGD:9068941	20200609	RGD		associated with reperfusion injury	PMID:16052682|REF_RGD_ID:4889825
8816121	Il18	interleukin 18	gene	DOID:5614	eye disease	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with Behcet Syndrome;DNA:SNP:promoter:-137G>C (rs187238) (human)	PMID:16273766|REF_RGD_ID:8655910
8816121	Il18	interleukin 18	gene	DOID:5844	myocardial infarction	ameliorates	ISO	RGD:2889	D	RGD:9068941	20230330	RGD			PMID:33389498|REF_RGD_ID:242905187
8816121	Il18	interleukin 18	gene	DOID:633	myositis	treatment	ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:16968394|REF_RGD_ID:8655903
8816121	Il18	interleukin 18	gene	DOID:6432	pulmonary hypertension		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:17400729|REF_RGD_ID:4889590
8816121	Il18	interleukin 18	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:26893476|REF_RGD_ID:11538094
8816121	Il18	interleukin 18	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with hepatitis B, chronic;DNA:SNP:promoter:-607C>A(human)	PMID:27470888|REF_RGD_ID:14696663
8816121	Il18	interleukin 18	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with hepatitis C;DNA:SNPs, haplotype:promoter:-607C>A, -137G>C(human)	PMID:29341496|REF_RGD_ID:14695526
8816121	Il18	interleukin 18	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-137G>C(rs187238)(human)	PMID:27429592|REF_RGD_ID:14695540
8816121	Il18	interleukin 18	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16368150
8816121	Il18	interleukin 18	gene	DOID:769	neuroblastoma	susceptibility	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:16428511|REF_RGD_ID:8655920
8816121	Il18	interleukin 18	gene	DOID:83	cataract		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:18006521|REF_RGD_ID:8655879
8816121	Il18	interleukin 18	gene	DOID:83	cataract		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;mRNA:increased expression:lens	PMID:21591858|REF_RGD_ID:8655881
8816121	Il18	interleukin 18	gene	DOID:850	lung disease		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		acute lung injury; associated with cardiac surgical procedures; DNA:polymorphism: : c. -607 C>G (human)	PMID:20522205|REF_RGD_ID:4889548
8816121	Il18	interleukin 18	gene	DOID:850	lung disease		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		lung injury; protein:increased expression:lung	PMID:19265174|REF_RGD_ID:4889574
8816121	Il18	interleukin 18	gene	DOID:850	lung disease		ISO	RGD:730895	D	RGD:9068941	20200609	RGD		acute lung injury; associated with endotoxemia;	PMID:19197224|REF_RGD_ID:4889576
8816121	Il18	interleukin 18	gene	DOID:850	lung disease		ISO	RGD:730895	D	RGD:9068941	20200609	RGD		lung injury	PMID:19265174|REF_RGD_ID:4889574
8816121	Il18	interleukin 18	gene	DOID:8566	herpes simplex	treatment	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:9971824|REF_RGD_ID:8655923
8816121	Il18	interleukin 18	gene	DOID:865	vasculitis		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:19717152|REF_RGD_ID:4889401
8816121	Il18	interleukin 18	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		protein:increased expression:ileum	PMID:12032269|PMID:21240009|REF_RGD_ID:5490305|REF_RGD_ID:729222
8816121	Il18	interleukin 18	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:12529262|REF_RGD_ID:4889473
8816121	Il18	interleukin 18	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:17947451|REF_RGD_ID:4889475
8816121	Il18	interleukin 18	gene	DOID:874	bacterial pneumonia		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:17664259|REF_RGD_ID:4889913
8816121	Il18	interleukin 18	gene	DOID:8893	psoriasis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:17611614|REF_RGD_ID:8655919
8816121	Il18	interleukin 18	gene	DOID:8893	psoriasis	treatment	ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:22291810|REF_RGD_ID:8655900
8816121	Il18	interleukin 18	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:24801815|REF_RGD_ID:11073600
8816121	Il18	interleukin 18	gene	DOID:8947	diabetic retinopathy		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;protein:increased expression:serum	PMID:16260350|REF_RGD_ID:8655907
8816121	Il18	interleukin 18	gene	DOID:8947	diabetic retinopathy		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:19011009|REF_RGD_ID:4889417
8816121	Il18	interleukin 18	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:18367607|REF_RGD_ID:2315889
8816121	Il18	interleukin 18	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:23140983|REF_RGD_ID:8655974
8816121	Il18	interleukin 18	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;protein:increased expression:serum	PMID:12902898|REF_RGD_ID:8655867
8816121	Il18	interleukin 18	gene	DOID:9000197	Edema		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:19497959|REF_RGD_ID:4889403
8816121	Il18	interleukin 18	gene	DOID:9000386	Polyomavirus Infections		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
8816121	Il18	interleukin 18	gene	DOID:9000528	Coronary Disease		ISO	RGD:730894	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Three Vessel Coronary Disease	PMID:25741868
8816121	Il18	interleukin 18	gene	DOID:9000641	Pain		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:19853379|REF_RGD_ID:2315887
8816121	Il18	interleukin 18	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:11766995|REF_RGD_ID:4889856
8816121	Il18	interleukin 18	gene	DOID:9000855	Experimental Radiation Injuries		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11121210
8816121	Il18	interleukin 18	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12748951
8816121	Il18	interleukin 18	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with breast cancer;DNA:SNP:promoter:-137G>C (rs187238) (human)	PMID:19152241|REF_RGD_ID:8655899
8816121	Il18	interleukin 18	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with breast cancer;protein:increased expression:serum	PMID:12209760|REF_RGD_ID:8655866
8816121	Il18	interleukin 18	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:11215816|REF_RGD_ID:4889862
8816121	Il18	interleukin 18	gene	DOID:9000998	Brain Injuries		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain	PMID:17188500|REF_RGD_ID:2315917
8816121	Il18	interleukin 18	gene	DOID:9000998	Brain Injuries	severity	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:17188500|REF_RGD_ID:2315917
8816121	Il18	interleukin 18	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:23000553|REF_RGD_ID:8655963
8816121	Il18	interleukin 18	gene	DOID:9001488	Human Influenza		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:15606801|REF_RGD_ID:4889964
8816121	Il18	interleukin 18	gene	DOID:9001547	Tibial Fractures		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		protein:increased expression:skin	PMID:19853379|REF_RGD_ID:2315887
8816121	Il18	interleukin 18	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8816121	Il18	interleukin 18	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:730895	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:23589298|REF_RGD_ID:14695541
8816121	Il18	interleukin 18	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:15770015|REF_RGD_ID:4889960
8816121	Il18	interleukin 18	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:25919765|REF_RGD_ID:14696667
8816121	Il18	interleukin 18	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:14999688|REF_RGD_ID:14696668
8816121	Il18	interleukin 18	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD		associated with Peripheral Nerve Injuries	PMID:19036970|REF_RGD_ID:8655929
8816121	Il18	interleukin 18	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17688413
8816121	Il18	interleukin 18	gene	DOID:9002433	Schistosomiasis Japonica	treatment	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:19467215|REF_RGD_ID:14696662
8816121	Il18	interleukin 18	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:15147345|REF_RGD_ID:4889503
8816121	Il18	interleukin 18	gene	DOID:9002457	Experimental Arthritis	disease_progression	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:19096963|REF_RGD_ID:4889415
8816121	Il18	interleukin 18	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:macrophage, microglia:	PMID:11494369|REF_RGD_ID:4889526
8816121	Il18	interleukin 18	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:9834127|REF_RGD_ID:4889543
8816121	Il18	interleukin 18	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:9846824|REF_RGD_ID:4889542
8816121	Il18	interleukin 18	gene	DOID:9002798	Macrophage Activation Syndrome		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with Arthritis, Juvenile;protein:increased expression:serum	PMID:20472718|REF_RGD_ID:8655917
8816121	Il18	interleukin 18	gene	DOID:9002850	Immediate Hypersensitivity		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22967010
8816121	Il18	interleukin 18	gene	DOID:9002916	Hyperphagia		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:16732281|REF_RGD_ID:14695532
8816121	Il18	interleukin 18	gene	DOID:9003036	Oral Lichen Planus		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotypes:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)	PMID:17854431|REF_RGD_ID:8655868
8816121	Il18	interleukin 18	gene	DOID:9003036	Oral Lichen Planus	no_association	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter, intron:-656G>T (rs1946519), 1248A>G (rs189667) (human)	PMID:17854431|REF_RGD_ID:8655868
8816121	Il18	interleukin 18	gene	DOID:9003657	Perennial Allergic Rhinitis	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:c. -607A>C (rs1946518) (human)	PMID:16406079|REF_RGD_ID:4889924
8816121	Il18	interleukin 18	gene	DOID:9003690	Carcinoma, Lewis Lung	treatment	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:16767432|REF_RGD_ID:8655941
8816121	Il18	interleukin 18	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22318348|REF_RGD_ID:8655957
8816121	Il18	interleukin 18	gene	DOID:9003936	Cardiomegaly		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18660453
8816121	Il18	interleukin 18	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:19394645|REF_RGD_ID:4889555
8816121	Il18	interleukin 18	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:730895	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16052682|REF_RGD_ID:4889825
8816121	Il18	interleukin 18	gene	DOID:9004017	Chronic Hepatitis C	disease_progression	ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:19740312|REF_RGD_ID:14696656
8816121	Il18	interleukin 18	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-607C>A (rs1946518)(human)	PMID:25198668|REF_RGD_ID:14696651
8816121	Il18	interleukin 18	gene	DOID:9004118	Experimental Melanoma	treatment	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:12230493|PMID:17411412|REF_RGD_ID:8655870|REF_RGD_ID:8655901
8816121	Il18	interleukin 18	gene	DOID:9004283	Transplant Rejection		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:21962809|REF_RGD_ID:8655943
8816121	Il18	interleukin 18	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD		associated with Myocardial Reperfusion Injury	PMID:24223666|REF_RGD_ID:8655952
8816121	Il18	interleukin 18	gene	DOID:9004729	Nontuberculous Mycobacterium Infections		ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:21045270|REF_RGD_ID:4889546
8816121	Il18	interleukin 18	gene	DOID:9004994	Embryo Loss		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:21920610|REF_RGD_ID:8655947
8816121	Il18	interleukin 18	gene	DOID:9005236	Drug Eruptions		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18204966
8816121	Il18	interleukin 18	gene	DOID:9005966	Staphylococcal Skin Infections	treatment	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:21536791|REF_RGD_ID:8655921
8816121	Il18	interleukin 18	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:16864728|REF_RGD_ID:4889500
8816121	Il18	interleukin 18	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		protein:increased expression:carotid artery	PMID:19955748|REF_RGD_ID:4889159
8816121	Il18	interleukin 18	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:22089199|REF_RGD_ID:8655971
8816121	Il18	interleukin 18	gene	DOID:9006302	Binge Drinking	treatment	ISO	RGD:2889	D	RGD:9068941	20250403	RGD			PMID:29260441|REF_RGD_ID:598099561
8816121	Il18	interleukin 18	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19717152|REF_RGD_ID:4889401
8816121	Il18	interleukin 18	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16644639
8816121	Il18	interleukin 18	gene	DOID:9006646	Metabolic Syndrome	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:24456735|REF_RGD_ID:8655985
8816121	Il18	interleukin 18	gene	DOID:9006966	Pseudomonas Aeruginosa Keratitis		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:12023376|REF_RGD_ID:8655931
8816121	Il18	interleukin 18	gene	DOID:9007356	Eczema		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter, exon:multiple	PMID:15806006|REF_RGD_ID:8655937
8816121	Il18	interleukin 18	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24349532
8816121	Il18	interleukin 18	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19164858
8816121	Il18	interleukin 18	gene	DOID:9007480	Hyperoxia		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:19672068|REF_RGD_ID:4889402
8816121	Il18	interleukin 18	gene	DOID:9007692	Insulin Resistance		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:16732281|REF_RGD_ID:14695532
8816121	Il18	interleukin 18	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with Graves Disease	PMID:23257837|REF_RGD_ID:8655938
8816121	Il18	interleukin 18	gene	DOID:9007730	Burns		ISO	RGD:730895	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:19197224|REF_RGD_ID:4889576
8816121	Il18	interleukin 18	gene	DOID:9007748	Retinal Neovascularization		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:retina	PMID:17562991|REF_RGD_ID:8655891
8816121	Il18	interleukin 18	gene	DOID:9007748	Retinal Neovascularization		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:17234681|REF_RGD_ID:8655930
8816121	Il18	interleukin 18	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:19805173|REF_RGD_ID:4889400
8816121	Il18	interleukin 18	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:19164288|REF_RGD_ID:4889578
8816121	Il18	interleukin 18	gene	DOID:9007874	Liver Failure	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:23155311|REF_RGD_ID:8655993
8816121	Il18	interleukin 18	gene	DOID:9008103	Seasonal Allergic Rhinitis	no_association	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoters:multiple	PMID:12532106|REF_RGD_ID:8655871
8816121	Il18	interleukin 18	gene	DOID:9008103	Seasonal Allergic Rhinitis	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoters, exon:multiple	PMID:12532106|REF_RGD_ID:8655871
8816121	Il18	interleukin 18	gene	DOID:9008163	Chronic Hepatitis B	disease_progression	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-607C>A(human)	PMID:27470888|REF_RGD_ID:14696663
8816121	Il18	interleukin 18	gene	DOID:9008691	Liver Injury		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:24412291|REF_RGD_ID:14696652
8816121	Il18	interleukin 18	gene	DOID:9008691	Liver Injury		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:21106643|REF_RGD_ID:8655972
8816121	Il18	interleukin 18	gene	DOID:9008856	HIV-Associated Lipodystrophy Syndrome		ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:15353983|REF_RGD_ID:8655934
8816121	Il18	interleukin 18	gene	DOID:9008856	HIV-Associated Lipodystrophy Syndrome	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)	PMID:20331838|REF_RGD_ID:8655915
8816121	Il18	interleukin 18	gene	DOID:9065	leishmaniasis		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16879623
8816121	Il18	interleukin 18	gene	DOID:9065	leishmaniasis	treatment	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:10768930|REF_RGD_ID:8655909
8816121	Il18	interleukin 18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:730894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8816121	Il18	interleukin 18	gene	DOID:9146	visceral leishmaniasis	susceptibility	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:16879623|REF_RGD_ID:8655922
8816121	Il18	interleukin 18	gene	DOID:9452	steatotic liver disease		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:19084941|REF_RGD_ID:4889416
8816121	Il18	interleukin 18	gene	DOID:9675	pulmonary emphysema		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:respiratory system fluid/secretion, macrophage	PMID:23392573|REF_RGD_ID:8655969
8816121	Il18	interleukin 18	gene	DOID:9675	pulmonary emphysema		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:17400729|REF_RGD_ID:4889590
8816121	Il18	interleukin 18	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18359638|REF_RGD_ID:8655935
8816121	Il18	interleukin 18	gene	DOID:986	alopecia areata	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human)	PMID:24446726|REF_RGD_ID:8655875
8816121	Il18	interleukin 18	gene	DOID:9970	obesity		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:16732281|REF_RGD_ID:14695532
8816121	Il18	interleukin 18	gene	DOID:9970	obesity	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:20490358|REF_RGD_ID:7175343
8816133	Acer2	alkaline ceramidase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8816133	Acer2	alkaline ceramidase 2	gene	DOID:1115	sarcoma		ISO	RGD:1312176	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8816133	Acer2	alkaline ceramidase 2	gene	DOID:1324	lung cancer		ISO	RGD:1312176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8816133	Acer2	alkaline ceramidase 2	gene	DOID:3275	thymoma		ISO	RGD:1312176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8816133	Acer2	alkaline ceramidase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312176	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8816133	Acer2	alkaline ceramidase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:730995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:730995	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24256636
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:730995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:620913	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebellum (rat)	PMID:23665061|REF_RGD_ID:10402771
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:730996	D	RGD:9068941	20200609	RGD		protein:altered localization:promoter (mouse)	PMID:24849358|REF_RGD_ID:10402385
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:11383	cryptorchidism		ISO	RGD:620913	D	RGD:9068941	20200609	RGD		protein:increased expression:testis, spermatocyte, nucleus (rat)	PMID:21480429|REF_RGD_ID:10402945
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:12858	Huntington's disease		ISO	RGD:730995	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:16051598|REF_RGD_ID:10402372
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:12858	Huntington's disease		ISO	RGD:730996	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver (mouse)	PMID:19443488|REF_RGD_ID:10402387
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:12858	Huntington's disease	treatment	ISO	RGD:730996	D	RGD:9068941	20200609	RGD			PMID:24381308|REF_RGD_ID:10402386
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:620913	D	RGD:9068941	20200609	RGD		protein:decreased expression:midbrain (rat)	PMID:24296154|REF_RGD_ID:10402753
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:14330	Parkinson's disease	treatment	ISO	RGD:620913	D	RGD:9068941	20200609	RGD			PMID:24852355|REF_RGD_ID:10402545
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:730995	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22885793
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:620913	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, nucleus (rat)	PMID:26070787|REF_RGD_ID:10402389
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:620913	D	RGD:9068941	20200609	RGD		associated with Heart Arrest	PMID:23528677|REF_RGD_ID:10402772
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:730995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:730995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:6000	congestive heart failure		ISO	RGD:620913	D	RGD:9068941	20200609	RGD		protein:altered localization:heart left ventricle (rat)	PMID:24285117|REF_RGD_ID:10402754
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:730995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:767	muscular atrophy	treatment	ISO	RGD:620913	D	RGD:9068941	20200609	RGD			PMID:21983076|REF_RGD_ID:10402941
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:9000099	Experimental Colitis		ISO	RGD:620913	D	RGD:9068941	20200609	RGD		protein:increased acetylation:colon (rat)	PMID:25608526|REF_RGD_ID:10402402
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:9000972	Fever		ISO	RGD:620913	D	RGD:9068941	20200609	RGD		associated with Endotoxemia;protein:altered localization:preoptic area, anterior hypothalamus, nucleus (rat)	PMID:22427437|REF_RGD_ID:10402781
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:9002395	Hypothermia		ISO	RGD:620913	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate gland ventral lobe (rat)	PMID:25996932|REF_RGD_ID:10402397
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:9002669	Hypoxia		ISO	RGD:620913	D	RGD:9068941	20200609	RGD		protein:increased expression:gastric mucosa (rat)	PMID:22156356|REF_RGD_ID:10402813
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:620913	D	RGD:9068941	20200609	RGD			PMID:25804640|REF_RGD_ID:10402399
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:730995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:9004562	Smoke Inhalation Injury	treatment	ISO	RGD:620913	D	RGD:9068941	20200609	RGD			PMID:23499678|REF_RGD_ID:10402773
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:9004649	Heat Stroke	treatment	ISO	RGD:620913	D	RGD:9068941	20200609	RGD			PMID:23219797|REF_RGD_ID:10402774
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:620913	D	RGD:9068941	20200609	RGD			PMID:25571843|REF_RGD_ID:10402404
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:620913	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney (rat)	PMID:23102208|REF_RGD_ID:10402775
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:730996	D	RGD:9068941	20200609	RGD			PMID:22426029|REF_RGD_ID:10402789
8816156	Hsf1	heat shock transcription factor 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730996	D	RGD:9068941	20200609	RGD		protein:increased expression:heart (mouse)	PMID:24496227|REF_RGD_ID:10402557
8816187	Scml2	Scm polycomb group protein like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8816187	Scml2	Scm polycomb group protein like 2	gene	DOID:0050902	medulloblastoma		ISO	RGD:1352337	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
8816187	Scml2	Scm polycomb group protein like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1352337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8816187	Scml2	Scm polycomb group protein like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8816187	Scml2	Scm polycomb group protein like 2	gene	DOID:1909	melanoma		ISO	RGD:1352337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8816187	Scml2	Scm polycomb group protein like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1352337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8816187	Scml2	Scm polycomb group protein like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1352337	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8816187	Scml2	Scm polycomb group protein like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816187	Scml2	Scm polycomb group protein like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8816210	Vcf1	VCP nuclear cofactor family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1602856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8816210	Vcf1	VCP nuclear cofactor family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816210	Vcf1	VCP nuclear cofactor family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8816210	Vcf1	VCP nuclear cofactor family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816217	Kntc1	kinetochore associated 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8816217	Kntc1	kinetochore associated 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8816217	Kntc1	kinetochore associated 1	gene	DOID:10283	prostate cancer		ISO	RGD:1317369	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
8816217	Kntc1	kinetochore associated 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8816217	Kntc1	kinetochore associated 1	gene	DOID:10907	microcephaly		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8816217	Kntc1	kinetochore associated 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8816217	Kntc1	kinetochore associated 1	gene	DOID:1115	sarcoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8816217	Kntc1	kinetochore associated 1	gene	DOID:1324	lung cancer		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8816217	Kntc1	kinetochore associated 1	gene	DOID:1909	melanoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8816217	Kntc1	kinetochore associated 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8816217	Kntc1	kinetochore associated 1	gene	DOID:3070	high grade glioma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8816217	Kntc1	kinetochore associated 1	gene	DOID:3275	thymoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8816217	Kntc1	kinetochore associated 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8816217	Kntc1	kinetochore associated 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8816217	Kntc1	kinetochore associated 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8816217	Kntc1	kinetochore associated 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317369	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8816217	Kntc1	kinetochore associated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816217	Kntc1	kinetochore associated 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8816217	Kntc1	kinetochore associated 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8816217	Kntc1	kinetochore associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816217	Kntc1	kinetochore associated 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8816217	Kntc1	kinetochore associated 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8816217	Kntc1	kinetochore associated 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8816288	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8816288	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8816288	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:0080600	COVID-19		ISO	RGD:1353110	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8816288	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:10534	stomach cancer		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8816288	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8816288	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:1324	lung cancer		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8816288	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:1909	melanoma		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8816288	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8816288	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8816288	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:4362	cervical cancer		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8816288	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8816288	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816288	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8816288	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1353110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28114269
8816288	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816288	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1353110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28114269
8816288	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8816288	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1603312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:0081430	intellectual developmental disorder with autistic features and language delay, with or without seizures		ISO	RGD:1603312	D	RGD:7240710	20201216	OMIM			
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:0081430	intellectual developmental disorder with autistic features and language delay, with or without seizures		ISO	RGD:1603312	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES | ClinVar Annotator: match by term: Intellectual developmental disorder with autistic features and language delay, with or without seizures | ClinVar Annotator: match by term: TANC2-related condition	PMID:25741868|PMID:28492532|PMID:28754924|PMID:31616000|PMID:33875846|PMID:35599849|PMID:40110879
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:0090129	carnitine palmitoyltransferase I deficiency		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency	PMID:25741868
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:1059	intellectual disability		ISO	RGD:1603312	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Intellectual Disability | ClinVar Annotator: match by term: Intellectual disability	PMID:23033978|PMID:25741868|PMID:28754924|PMID:30021165|PMID:31616000
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:10907	microcephaly		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:11383	cryptorchidism		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:11830	myopia		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:12849	autistic disorder		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: autistic behavior	PMID:25741868|PMID:29070031
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:1596	depressive disorder		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1603312	D	RGD:8554872	20250415	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25741868
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:1826	epilepsy		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:1909	melanoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:2340	craniosynostosis		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:5419	schizophrenia		ISO	RGD:1603312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:630	genetic disease		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25954003|PMID:27618451|PMID:28191890|PMID:28490743|PMID:28518168|PMID:32461654|PMID:34615535
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9000227	Hypogonadism and Testicular Atrophy		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Testicular atrophy	PMID:25741868
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9001031	Retrognathia		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9001722	Dysarthria		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:29070031
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9007776	Hemianopsia		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bitemporal hemianopia	PMID:25741868
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:29070031|PMID:31616000
8816327	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental Delay | ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:29070031
8816389	Nppb	natriuretic peptide B	gene	DOID:0050700	cardiomyopathy		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14745153|PMID:16127512
8816389	Nppb	natriuretic peptide B	gene	DOID:0051064	left ventricular failure		ISO	RGD:3194	D	RGD:9068941	20200609	RGD		associated with Renal Insufficiency; protein:increased expression:blood:	PMID:22071162|REF_RGD_ID:7247632
8816389	Nppb	natriuretic peptide B	gene	DOID:0051064	left ventricular failure		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16689991
8816389	Nppb	natriuretic peptide B	gene	DOID:0060224	atrial fibrillation		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15864246
8816389	Nppb	natriuretic peptide B	gene	DOID:0080322	polycystic kidney disease	treatment	ISO	RGD:3194	D	RGD:9068941	20200609	RGD			PMID:28416225|REF_RGD_ID:14701038
8816389	Nppb	natriuretic peptide B	gene	DOID:0080600	COVID-19	disease_progression	ISO	RGD:69139	D	RGD:9068941	20200618	RGD			PMID:32293449|REF_RGD_ID:30296680
8816389	Nppb	natriuretic peptide B	gene	DOID:0080600	COVID-19	disease_progression	ISO	RGD:69139	D	RGD:9068941	20200618	RGD		associated with diabetes mellitus	PMID:32345579|REF_RGD_ID:30296681
8816389	Nppb	natriuretic peptide B	gene	DOID:0080600	COVID-19	severity	ISO	RGD:69139	D	RGD:9068941	20200619	RGD			PMID:32302954|PMID:32427582|PMID:32434874|REF_RGD_ID:30296677|REF_RGD_ID:30296679|REF_RGD_ID:30309200
8816389	Nppb	natriuretic peptide B	gene	DOID:0080600	COVID-19	severity	ISO	RGD:69139	D	RGD:9068941	20200625	RGD		associated with hyperglycemia;protein:increased expression:serum (human)	PMID:32406594|REF_RGD_ID:32698682
8816389	Nppb	natriuretic peptide B	gene	DOID:1073	renal hypertension		ISO	RGD:3194	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:20139323|REF_RGD_ID:7248593
8816389	Nppb	natriuretic peptide B	gene	DOID:1073	renal hypertension		ISO	RGD:3194	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22188107|REF_RGD_ID:6907405
8816389	Nppb	natriuretic peptide B	gene	DOID:1073	renal hypertension		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		associated with Hypertension;protein:increased expression:plasma	PMID:12697975|REF_RGD_ID:7248660
8816389	Nppb	natriuretic peptide B	gene	DOID:10763	hypertension		ISO	RGD:3194	D	RGD:9068941	20200609	RGD			PMID:11897768|REF_RGD_ID:70484
8816389	Nppb	natriuretic peptide B	gene	DOID:10763	hypertension		ISO	RGD:69139	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:19219041|PMID:24039778|PMID:30310171|PMID:32147540|PMID:9194512
8816389	Nppb	natriuretic peptide B	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:69139	D	RGD:9068941	20200609	RGD		DNA:repeats	PMID:17554401|REF_RGD_ID:1642191
8816389	Nppb	natriuretic peptide B	gene	DOID:10763	hypertension	treatment	ISO	RGD:3194	D	RGD:9068941	20200609	RGD			PMID:21403100|REF_RGD_ID:5685657
8816389	Nppb	natriuretic peptide B	gene	DOID:10825	essential hypertension		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:9350073|REF_RGD_ID:7246914
8816389	Nppb	natriuretic peptide B	gene	DOID:10923	sickle cell anemia		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20408845
8816389	Nppb	natriuretic peptide B	gene	DOID:10923	sickle cell anemia	severity	ISO	RGD:69139	D	RGD:9068941	20200609	RGD			PMID:21689089|REF_RGD_ID:5685653
8816389	Nppb	natriuretic peptide B	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		associated with Ventilator-Induced Lung Injury;protein:increased expression:serum:	PMID:23837838|REF_RGD_ID:7247620
8816389	Nppb	natriuretic peptide B	gene	DOID:114	heart disease		ISO	RGD:3194	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA:increased expression:heart	PMID:10828832|REF_RGD_ID:1642294
8816389	Nppb	natriuretic peptide B	gene	DOID:114	heart disease		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18004637
8816389	Nppb	natriuretic peptide B	gene	DOID:114	heart disease		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		associated with Mucocutaneous Lymph Node Syndrome	PMID:22087201|REF_RGD_ID:5685644
8816389	Nppb	natriuretic peptide B	gene	DOID:114	heart disease		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		associated with Renal Insufficiency,chronic;protein:increased expression:serum:	PMID:22038201|REF_RGD_ID:7247634
8816389	Nppb	natriuretic peptide B	gene	DOID:11516	hypertensive heart disease		ISO	RGD:3194	D	RGD:9068941	20200609	RGD			PMID:21403100|REF_RGD_ID:5685657
8816389	Nppb	natriuretic peptide B	gene	DOID:11981	morbid obesity		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17273651|REF_RGD_ID:1642195
8816389	Nppb	natriuretic peptide B	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:3194	D	RGD:9068941	20230824	RGD		mRNA:increased expression:heatt (rat)	PMID:24247421|REF_RGD_ID:401793741
8816389	Nppb	natriuretic peptide B	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:3194	D	RGD:9068941	20230831	RGD		mRNA:increased expression:heart (rat)	PMID:19889059|REF_RGD_ID:401794453
8816389	Nppb	natriuretic peptide B	gene	DOID:1287	cardiovascular system disease		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19220183
8816389	Nppb	natriuretic peptide B	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:16762803|PMID:18628775
8816389	Nppb	natriuretic peptide B	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18068619|REF_RGD_ID:2324684
8816389	Nppb	natriuretic peptide B	gene	DOID:12930	dilated cardiomyopathy	ameliorates	ISO	RGD:69139	D	RGD:9068941	20230415	RGD		mRNA,protein:increased expression:heart (human)	PMID:24275554|REF_RGD_ID:11252017
8816389	Nppb	natriuretic peptide B	gene	DOID:13378	Kawasaki disease		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:21410593|REF_RGD_ID:5685654
8816389	Nppb	natriuretic peptide B	gene	DOID:1682	congenital heart disease		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16014188
8816389	Nppb	natriuretic peptide B	gene	DOID:1936	atherosclerosis		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		associated with Renal Insufficiency, chronic;protein:increased expression:blood:	PMID:22863432|REF_RGD_ID:7247628
8816389	Nppb	natriuretic peptide B	gene	DOID:1936	atherosclerosis	susceptibility	ISO	RGD:69139	D	RGD:9068941	20200609	RGD		associated with Hypertension,Renal; DNA:SNP:promoter: -381 T>C,rs198389 (human)	PMID:19413180|REF_RGD_ID:7248594
8816389	Nppb	natriuretic peptide B	gene	DOID:2527	nephrosis		ISO	RGD:3194	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:8289999|REF_RGD_ID:7247315
8816389	Nppb	natriuretic peptide B	gene	DOID:3021	acute kidney failure		ISO	RGD:3194	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:22209992|REF_RGD_ID:7247715
8816389	Nppb	natriuretic peptide B	gene	DOID:3021	acute kidney failure		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		associated with Myocardial Infarction;protein:increased expression:serum:	PMID:23192919|REF_RGD_ID:7247624
8816389	Nppb	natriuretic peptide B	gene	DOID:3021	acute kidney failure		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		associated with Pneumonia;protein:increased expression:serum:	PMID:23415693|REF_RGD_ID:7247622
8816389	Nppb	natriuretic peptide B	gene	DOID:3021	acute kidney failure		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		associated with lung diseases;protein:increased expression:serum:	PMID:23837838|REF_RGD_ID:7247620
8816389	Nppb	natriuretic peptide B	gene	DOID:3393	coronary artery disease		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18022110
8816389	Nppb	natriuretic peptide B	gene	DOID:4500	hypokalemia		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20339970
8816389	Nppb	natriuretic peptide B	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:11004	D	RGD:9068941	20200609	RGD			PMID:11729234|REF_RGD_ID:7248605
8816389	Nppb	natriuretic peptide B	gene	DOID:5082	liver cirrhosis		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:9350073|REF_RGD_ID:7246914
8816389	Nppb	natriuretic peptide B	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:69139	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:23940514|REF_RGD_ID:7248670
8816389	Nppb	natriuretic peptide B	gene	DOID:5199	ureteral obstruction		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26207612
8816389	Nppb	natriuretic peptide B	gene	DOID:57	aortic valve insufficiency		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21216836
8816389	Nppb	natriuretic peptide B	gene	DOID:576	proteinuria		ISO	RGD:3194	D	RGD:9068941	20200609	RGD			PMID:26063669|REF_RGD_ID:12910116
8816389	Nppb	natriuretic peptide B	gene	DOID:5844	myocardial infarction		ISO	RGD:3194	D	RGD:9068941	20200609	RGD			PMID:17256064|PMID:19858735|REF_RGD_ID:1642266|REF_RGD_ID:2324680
8816389	Nppb	natriuretic peptide B	gene	DOID:5844	myocardial infarction		ISO	RGD:69139	D	RGD:9068941	20200609	RGD			PMID:17639095|REF_RGD_ID:7247724
8816389	Nppb	natriuretic peptide B	gene	DOID:6000	congestive heart failure		ISO	RGD:3194	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:1831369|REF_RGD_ID:7247316
8816389	Nppb	natriuretic peptide B	gene	DOID:6000	congestive heart failure		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:11136700|PMID:11279304|PMID:12628948|PMID:15732037|PMID:15860969|PMID:16101196|PMID:16333235|PMID:16360360|PMID:16762801|PMID:16777915|PMID:19650993|PMID:24535859|PMID:29959987
8816389	Nppb	natriuretic peptide B	gene	DOID:6000	congestive heart failure		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus;protein:increased expression:plasma	PMID:17257273|REF_RGD_ID:1642196
8816389	Nppb	natriuretic peptide B	gene	DOID:6000	congestive heart failure		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:heart,plasma	PMID:11421854|REF_RGD_ID:1580139
8816389	Nppb	natriuretic peptide B	gene	DOID:6000	congestive heart failure	severity	ISO	RGD:69139	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:2143809|REF_RGD_ID:1580140
8816389	Nppb	natriuretic peptide B	gene	DOID:6364	migraine		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22165670|REF_RGD_ID:5685652
8816389	Nppb	natriuretic peptide B	gene	DOID:6432	pulmonary hypertension		ISO	RGD:3194	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16936438|REF_RGD_ID:1642203
8816389	Nppb	natriuretic peptide B	gene	DOID:6432	pulmonary hypertension		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20408845|PMID:21351102
8816389	Nppb	natriuretic peptide B	gene	DOID:6432	pulmonary hypertension	severity	ISO	RGD:69139	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16893710|REF_RGD_ID:1642205
8816389	Nppb	natriuretic peptide B	gene	DOID:783	end stage renal disease		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:7606877|REF_RGD_ID:7246912
8816389	Nppb	natriuretic peptide B	gene	DOID:784	chronic kidney disease	disease_progression	ISO	RGD:69139	D	RGD:9068941	20200609	RGD			PMID:23725445|REF_RGD_ID:7246908
8816389	Nppb	natriuretic peptide B	gene	DOID:9000543	Death		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		associated with Hypertension, Pulmonary	PMID:17296640|REF_RGD_ID:1642194
8816389	Nppb	natriuretic peptide B	gene	DOID:9000590	Dyspnea		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20339970
8816389	Nppb	natriuretic peptide B	gene	DOID:9000641	Pain		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27687165
8816389	Nppb	natriuretic peptide B	gene	DOID:9000669	Ventricular Dysfunction, Right		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16014188|PMID:19650993
8816389	Nppb	natriuretic peptide B	gene	DOID:9000790	Postoperative Complications		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23019395
8816389	Nppb	natriuretic peptide B	gene	DOID:9000998	Brain Injuries		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19803787
8816389	Nppb	natriuretic peptide B	gene	DOID:9000998	Brain Injuries		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		associated with lung diseases;protein:increased expression:serum:	PMID:23837838|REF_RGD_ID:7247620
8816389	Nppb	natriuretic peptide B	gene	DOID:9002097	High Cardiac Output		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20339970
8816389	Nppb	natriuretic peptide B	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:11004	D	RGD:9068941	20200609	RGD			PMID:16917760|REF_RGD_ID:7248603
8816389	Nppb	natriuretic peptide B	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma	PMID:10404802|REF_RGD_ID:7247731
8816389	Nppb	natriuretic peptide B	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29959987
8816389	Nppb	natriuretic peptide B	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19803787
8816389	Nppb	natriuretic peptide B	gene	DOID:9003234	Hypertensive Nephropathy		ISO	RGD:3194	D	RGD:9068941	20201211	RGD			PMID:26063669|REF_RGD_ID:12910116
8816389	Nppb	natriuretic peptide B	gene	DOID:9003936	Cardiomegaly		ISO	RGD:11004	D	RGD:9068941	20240104	RGD		mRNA:decreased expression:heart (mouse)	PMID:21273244|REF_RGD_ID:401940178
8816389	Nppb	natriuretic peptide B	gene	DOID:9003936	Cardiomegaly		ISO	RGD:3194	D	RGD:9068941	20200609	RGD		associated with Hypertension;mRNA:increased expression:heart	PMID:16762434|REF_RGD_ID:1642206
8816389	Nppb	natriuretic peptide B	gene	DOID:9003936	Cardiomegaly		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15942707|PMID:15969258|PMID:18056528|PMID:21565836
8816389	Nppb	natriuretic peptide B	gene	DOID:9003936	Cardiomegaly	ameliorates	ISO	RGD:11004	D	RGD:9068941	20230415	RGD			PMID:24275554|REF_RGD_ID:11252017
8816389	Nppb	natriuretic peptide B	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:3194	D	RGD:9068941	20200609	RGD			PMID:23905381|REF_RGD_ID:7297051
8816389	Nppb	natriuretic peptide B	gene	DOID:9004363	Eisenmenger Complex	disease_progression	ISO	RGD:69139	D	RGD:9068941	20200609	RGD		protein:increased expression:blood:	PMID:22397941|REF_RGD_ID:7247629
8816389	Nppb	natriuretic peptide B	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:3194	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart left ventricle	PMID:16272201|REF_RGD_ID:1580154
8816389	Nppb	natriuretic peptide B	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:17118955|REF_RGD_ID:1642202
8816389	Nppb	natriuretic peptide B	gene	DOID:9004616	Left Ventricular Hypertrophy	treatment	ISO	RGD:3194	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic	PMID:24013683|REF_RGD_ID:7297044
8816389	Nppb	natriuretic peptide B	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20339970
8816389	Nppb	natriuretic peptide B	gene	DOID:9005372	Inflammation		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19803787
8816389	Nppb	natriuretic peptide B	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3194	D	RGD:9068941	20200609	RGD		protein:increased expression:atrium myocardium, plasma	PMID:17151299|REF_RGD_ID:1642199
8816389	Nppb	natriuretic peptide B	gene	DOID:9005666	Contrast-Induced Nephropathy		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		associated with Heart Failure	PMID:20438292|REF_RGD_ID:7248591
8816389	Nppb	natriuretic peptide B	gene	DOID:9006024	Hypotension		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20339970|PMID:9194512
8816389	Nppb	natriuretic peptide B	gene	DOID:9006205	Animal Disease Models		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
8816389	Nppb	natriuretic peptide B	gene	DOID:9006635	Hyponatremia		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		associated with Brain Injuries	PMID:21808206|REF_RGD_ID:5685651
8816389	Nppb	natriuretic peptide B	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:69139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
8816389	Nppb	natriuretic peptide B	gene	DOID:9007174	Ventricular Remodeling	ameliorates	ISO	RGD:11004	D	RGD:9068941	20230406	RGD		associated with myocardial infarction	PMID:25726944|REF_RGD_ID:11252030
8816389	Nppb	natriuretic peptide B	gene	DOID:9007639	Metabolic Side Effects of Drugs and Substances		ISO	RGD:3194	D	RGD:9068941	20231116	RGD		Associated with incense smoke exposure;mRNA:increased expression:heart (rat)	PMID:25687613|REF_RGD_ID:401900684
8816389	Nppb	natriuretic peptide B	gene	DOID:9007692	Insulin Resistance		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		associated with Obesity and Hypertension;protein:decreased expression:serum	PMID:17392814|REF_RGD_ID:1642192
8816389	Nppb	natriuretic peptide B	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:3194	D	RGD:9068941	20200609	RGD			PMID:21168723|REF_RGD_ID:5685663
8816389	Nppb	natriuretic peptide B	gene	DOID:9008830	Vasovagal Syncope		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		associated with Syncope;protein:increased expression:serum:	PMID:23373852|REF_RGD_ID:7247623
8816389	Nppb	natriuretic peptide B	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:3194	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:heart, plasma	PMID:17303690|REF_RGD_ID:1642265
8816389	Nppb	natriuretic peptide B	gene	DOID:9351	diabetes mellitus	onset	ISO	RGD:69139	D	RGD:9068941	20200609	RGD			PMID:23733199|REF_RGD_ID:7246907
8816389	Nppb	natriuretic peptide B	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:3194	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:18192848|REF_RGD_ID:2293330
8816389	Nppb	natriuretic peptide B	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22037102|REF_RGD_ID:5685645
8816389	Nppb	natriuretic peptide B	gene	DOID:9477	pulmonary embolism	disease_progression	ISO	RGD:69139	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:23562569|REF_RGD_ID:7247621
8816389	Nppb	natriuretic peptide B	gene	DOID:9651	systolic heart failure		ISO	RGD:69139	D	RGD:9068941	20200609	RGD			PMID:23122795|REF_RGD_ID:7247627
8816389	Nppb	natriuretic peptide B	gene	DOID:9651	systolic heart failure		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		associated with Renal Insufficiency;protein:increased expression:plasma:	PMID:23725445|REF_RGD_ID:7246908
8816389	Nppb	natriuretic peptide B	gene	DOID:9970	obesity		ISO	RGD:3194	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:heart	PMID:24009719|REF_RGD_ID:7327171
8816389	Nppb	natriuretic peptide B	gene	DOID:9970	obesity		ISO	RGD:69139	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:21959345|REF_RGD_ID:5685647
8816389	Nppb	natriuretic peptide B	gene	DOID:9970	obesity	treatment	ISO	RGD:3194	D	RGD:9068941	20230720	RGD		associated with hypoxia; protein:increased expression:blood serum (rat)	PMID:33310031|REF_RGD_ID:329955450
8816396	Nxpe3	neurexophilin and PC-esterase domain family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8816396	Nxpe3	neurexophilin and PC-esterase domain family member 3	gene	DOID:0060058	lymphoma		ISO	RGD:1348429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8816396	Nxpe3	neurexophilin and PC-esterase domain family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1348429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8816396	Nxpe3	neurexophilin and PC-esterase domain family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1348429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8816396	Nxpe3	neurexophilin and PC-esterase domain family member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1348429	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8816396	Nxpe3	neurexophilin and PC-esterase domain family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816396	Nxpe3	neurexophilin and PC-esterase domain family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816396	Nxpe3	neurexophilin and PC-esterase domain family member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8816421	Mat2b	methionine adenosyltransferase 2 non-catalytic beta subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8816421	Mat2b	methionine adenosyltransferase 2 non-catalytic beta subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8816421	Mat2b	methionine adenosyltransferase 2 non-catalytic beta subunit	gene	DOID:1909	melanoma		ISO	RGD:1606800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8816421	Mat2b	methionine adenosyltransferase 2 non-catalytic beta subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8816421	Mat2b	methionine adenosyltransferase 2 non-catalytic beta subunit	gene	DOID:3275	thymoma		ISO	RGD:1606800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8816421	Mat2b	methionine adenosyltransferase 2 non-catalytic beta subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1606800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8816421	Mat2b	methionine adenosyltransferase 2 non-catalytic beta subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816421	Mat2b	methionine adenosyltransferase 2 non-catalytic beta subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816421	Mat2b	methionine adenosyltransferase 2 non-catalytic beta subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8816421	Mat2b	methionine adenosyltransferase 2 non-catalytic beta subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8816439	Fbxo10	F-box protein 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8816439	Fbxo10	F-box protein 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8816439	Fbxo10	F-box protein 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8816439	Fbxo10	F-box protein 10	gene	DOID:1324	lung cancer		ISO	RGD:1313507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8816439	Fbxo10	F-box protein 10	gene	DOID:1909	melanoma		ISO	RGD:1313507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8816439	Fbxo10	F-box protein 10	gene	DOID:2394	ovarian cancer		ISO	RGD:1313507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8816439	Fbxo10	F-box protein 10	gene	DOID:3070	high grade glioma		ISO	RGD:1313507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8816439	Fbxo10	F-box protein 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1313507	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8816439	Fbxo10	F-box protein 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816439	Fbxo10	F-box protein 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8816439	Fbxo10	F-box protein 10	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1305465	D	RGD:9068941	20200609	RGD			PMID:17404222|REF_RGD_ID:1601189
8816439	Fbxo10	F-box protein 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816439	Fbxo10	F-box protein 10	gene	DOID:9256	colorectal cancer		ISO	RGD:1313507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8816470	Cep192	centrosomal protein 192	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8816470	Cep192	centrosomal protein 192	gene	DOID:0060058	lymphoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8816470	Cep192	centrosomal protein 192	gene	DOID:10534	stomach cancer		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8816470	Cep192	centrosomal protein 192	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8816470	Cep192	centrosomal protein 192	gene	DOID:1115	sarcoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8816470	Cep192	centrosomal protein 192	gene	DOID:1324	lung cancer		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8816470	Cep192	centrosomal protein 192	gene	DOID:1909	melanoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8816470	Cep192	centrosomal protein 192	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8816470	Cep192	centrosomal protein 192	gene	DOID:3275	thymoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8816470	Cep192	centrosomal protein 192	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8816470	Cep192	centrosomal protein 192	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8816470	Cep192	centrosomal protein 192	gene	DOID:4362	cervical cancer		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8816470	Cep192	centrosomal protein 192	gene	DOID:5041	esophageal cancer		ISO	RGD:1605669	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8816470	Cep192	centrosomal protein 192	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8816470	Cep192	centrosomal protein 192	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816470	Cep192	centrosomal protein 192	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8816470	Cep192	centrosomal protein 192	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8816470	Cep192	centrosomal protein 192	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816470	Cep192	centrosomal protein 192	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8816470	Cep192	centrosomal protein 192	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8816520	Akap10	A-kinase anchoring protein 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:70080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8816520	Akap10	A-kinase anchoring protein 10	gene	DOID:10534	stomach cancer		ISO	RGD:70080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8816520	Akap10	A-kinase anchoring protein 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:70080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8816520	Akap10	A-kinase anchoring protein 10	gene	DOID:1115	sarcoma		ISO	RGD:70080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8816520	Akap10	A-kinase anchoring protein 10	gene	DOID:1324	lung cancer		ISO	RGD:70080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8816520	Akap10	A-kinase anchoring protein 10	gene	DOID:4362	cervical cancer		ISO	RGD:70080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8816520	Akap10	A-kinase anchoring protein 10	gene	DOID:5041	esophageal cancer		ISO	RGD:70080	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8816520	Akap10	A-kinase anchoring protein 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:70080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816520	Akap10	A-kinase anchoring protein 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:70080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8816520	Akap10	A-kinase anchoring protein 10	gene	DOID:9003163	Heart Block		ISO	RGD:70080	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Conduction disorder of the heart	PMID:25741868
8816520	Akap10	A-kinase anchoring protein 10	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:70080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8816520	Akap10	A-kinase anchoring protein 10	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:70080	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sudden infant death syndrome	PMID:25741868
8816520	Akap10	A-kinase anchoring protein 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:70080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8816520	Akap10	A-kinase anchoring protein 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:70080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	
8816544	Git1	GIT ArfGAP 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:732720	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21499268
8816544	Git1	GIT ArfGAP 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:732720	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron	PMID:21499268|REF_RGD_ID:11344918
8816544	Git1	GIT ArfGAP 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:737425	D	RGD:9068941	20220825	MouseDO		OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003	
8816544	Git1	GIT ArfGAP 1	gene	DOID:12858	Huntington's disease		ISO	RGD:732720	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebral cortex (human)	PMID:15383276|REF_RGD_ID:1549448
8816544	Git1	GIT ArfGAP 1	gene	DOID:5041	esophageal cancer		ISO	RGD:732720	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8816544	Git1	GIT ArfGAP 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816544	Git1	GIT ArfGAP 1	gene	DOID:630	genetic disease		ISO	RGD:732720	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8816544	Git1	GIT ArfGAP 1	gene	DOID:9002362	Hyperkinesis		ISO	RGD:732720	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21499268
8816544	Git1	GIT ArfGAP 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:732720	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28100775
8816544	Git1	GIT ArfGAP 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:732720	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21499268
8816568	Ubiad1	UbiA prenyltransferase domain containing 1	gene	DOID:0060456	Schnyder corneal dystrophy		ISO	RGD:1603400	D	RGD:7240710	20180130	OMIM			
8816568	Ubiad1	UbiA prenyltransferase domain containing 1	gene	DOID:0060456	Schnyder corneal dystrophy		ISO	RGD:1603400	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORNEAL DYSTROPHY, SCHNYDER | ClinVar Annotator: match by term: Schnyder crystalline corneal dystrophy	PMID:17668063|PMID:17960116|PMID:18176953|PMID:20505825|PMID:21572737|PMID:23328470|PMID:23564352|PMID:25741868|PMID:26748743|PMID:28492532|PMID:29977031|PMID:30084067|PMID:30223810|PMID:31323021
8816568	Ubiad1	UbiA prenyltransferase domain containing 1	gene	DOID:2566	corneal dystrophy		ISO	RGD:1603400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corneal dystrophy	
8816568	Ubiad1	UbiA prenyltransferase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8816568	Ubiad1	UbiA prenyltransferase domain containing 1	gene	DOID:9002860	Cardiac Edema		ISO	RGD:1603400	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23533172
8816568	Ubiad1	UbiA prenyltransferase domain containing 1	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:1603400	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23533172
8816574	Rpl3l	ribosomal protein L3 like	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314865	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:32514796|PMID:32870709
8816574	Rpl3l	ribosomal protein L3 like	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1314865	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
8816574	Rpl3l	ribosomal protein L3 like	gene	DOID:0081160	dilated cardiomyopathy 2D		ISO	RGD:1314865	D	RGD:7240710	20210616	OMIM			
8816574	Rpl3l	ribosomal protein L3 like	gene	DOID:0081160	dilated cardiomyopathy 2D		ISO	RGD:1314865	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 2D | ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2D	PMID:25741868|PMID:32514796|PMID:35323613|PMID:37308880
8816574	Rpl3l	ribosomal protein L3 like	gene	DOID:12215	oligohydramnios		ISO	RGD:1314865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
8816574	Rpl3l	ribosomal protein L3 like	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1314865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868
8816574	Rpl3l	ribosomal protein L3 like	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
8816574	Rpl3l	ribosomal protein L3 like	gene	DOID:1324	lung cancer		ISO	RGD:1314865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8816574	Rpl3l	ribosomal protein L3 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314865	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8816574	Rpl3l	ribosomal protein L3 like	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1314865	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26213588
8816574	Rpl3l	ribosomal protein L3 like	gene	DOID:9005883	Pleural Effusion		ISO	RGD:1314865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: pleural effusion	PMID:25741868
8816574	Rpl3l	ribosomal protein L3 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8816574	Rpl3l	ribosomal protein L3 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8816594	Rasgrp4	RAS guanyl releasing protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733193	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8816594	Rasgrp4	RAS guanyl releasing protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:733193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8816594	Rasgrp4	RAS guanyl releasing protein 4	gene	DOID:1909	melanoma		ISO	RGD:733193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8816594	Rasgrp4	RAS guanyl releasing protein 4	gene	DOID:3275	thymoma		ISO	RGD:733193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8816594	Rasgrp4	RAS guanyl releasing protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816594	Rasgrp4	RAS guanyl releasing protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816627	Tm2d1	TM2 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8816627	Tm2d1	TM2 domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1602315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8816627	Tm2d1	TM2 domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1602315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8816627	Tm2d1	TM2 domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602315	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8816627	Tm2d1	TM2 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816627	Tm2d1	TM2 domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8816627	Tm2d1	TM2 domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8816637	Kiaa1755	KIAA1755 ortholog	gene	DOID:10283	prostate cancer		ISO	RGD:2289756	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8816637	Kiaa1755	KIAA1755 ortholog	gene	DOID:10283	prostate cancer		ISO	RGD:2289756	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8816637	Kiaa1755	KIAA1755 ortholog	gene	DOID:10534	stomach cancer		ISO	RGD:2289756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8816637	Kiaa1755	KIAA1755 ortholog	gene	DOID:1115	sarcoma		ISO	RGD:2289756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8816637	Kiaa1755	KIAA1755 ortholog	gene	DOID:4362	cervical cancer		ISO	RGD:2289756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8816637	Kiaa1755	KIAA1755 ortholog	gene	DOID:6039	uveal melanoma		ISO	RGD:2289756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8816637	Kiaa1755	KIAA1755 ortholog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2289756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8816637	Kiaa1755	KIAA1755 ortholog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2289756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816637	Kiaa1755	KIAA1755 ortholog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2289756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8816657	Smim12	small integral membrane protein 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816657	Smim12	small integral membrane protein 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8816657	Smim12	small integral membrane protein 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8816666	Xrn1	5'-3' exoribonuclease 1	gene	DOID:0060058	lymphoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8816666	Xrn1	5'-3' exoribonuclease 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8816666	Xrn1	5'-3' exoribonuclease 1	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:1348971	D	RGD:9068941	20200609	RGD		DNA:snp:intron:c.1883+365T>C (rs1351965) (human)	PMID:22984654|REF_RGD_ID:11528589
8816666	Xrn1	5'-3' exoribonuclease 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8816666	Xrn1	5'-3' exoribonuclease 1	gene	DOID:1115	sarcoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8816666	Xrn1	5'-3' exoribonuclease 1	gene	DOID:1324	lung cancer		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8816666	Xrn1	5'-3' exoribonuclease 1	gene	DOID:1909	melanoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8816666	Xrn1	5'-3' exoribonuclease 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8816666	Xrn1	5'-3' exoribonuclease 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8816666	Xrn1	5'-3' exoribonuclease 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348971	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8816666	Xrn1	5'-3' exoribonuclease 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8816666	Xrn1	5'-3' exoribonuclease 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816666	Xrn1	5'-3' exoribonuclease 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8816666	Xrn1	5'-3' exoribonuclease 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8816666	Xrn1	5'-3' exoribonuclease 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348971	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8816666	Xrn1	5'-3' exoribonuclease 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816666	Xrn1	5'-3' exoribonuclease 1	gene	DOID:9008885	Staphylococcal Infections	susceptibility	ISO	RGD:1348971	D	RGD:9068941	20200609	RGD		DNA:snp:intron:c.2339+1477G>A (rs7643377) (human)	PMID:24847357|REF_RGD_ID:11530009
8816666	Xrn1	5'-3' exoribonuclease 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8816666	Xrn1	5'-3' exoribonuclease 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8816741	Gsk3a	glycogen synthase kinase 3 alpha	gene	DOID:0080855	Parkinsonism		ISO	RGD:620351	D	RGD:9068941	20200609	RGD		protein:decreased expression:striatum	PMID:18805403|REF_RGD_ID:10401814
8816741	Gsk3a	glycogen synthase kinase 3 alpha	gene	DOID:10534	stomach cancer		ISO	RGD:731783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8816741	Gsk3a	glycogen synthase kinase 3 alpha	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:1618666	D	RGD:9068941	20200609	RGD			PMID:18410522|PMID:22623685|REF_RGD_ID:10401797|REF_RGD_ID:10401801
8816741	Gsk3a	glycogen synthase kinase 3 alpha	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731783	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:28701297
8816741	Gsk3a	glycogen synthase kinase 3 alpha	gene	DOID:1596	depressive disorder		ISO	RGD:731783	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20357757
8816741	Gsk3a	glycogen synthase kinase 3 alpha	gene	DOID:2340	craniosynostosis		ISO	RGD:731783	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis	PMID:28492532
8816741	Gsk3a	glycogen synthase kinase 3 alpha	gene	DOID:3312	bipolar disorder		ISO	RGD:731783	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20357757
8816741	Gsk3a	glycogen synthase kinase 3 alpha	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:731783	D	RGD:9068941	20200609	RGD			PMID:12675919|REF_RGD_ID:2301741
8816741	Gsk3a	glycogen synthase kinase 3 alpha	gene	DOID:4362	cervical cancer		ISO	RGD:731783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8816741	Gsk3a	glycogen synthase kinase 3 alpha	gene	DOID:5419	schizophrenia		ISO	RGD:731783	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:16223876
8816741	Gsk3a	glycogen synthase kinase 3 alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816741	Gsk3a	glycogen synthase kinase 3 alpha	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8816741	Gsk3a	glycogen synthase kinase 3 alpha	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1618666	D	RGD:9068941	20200609	RGD			PMID:17855351|REF_RGD_ID:10401823
8816741	Gsk3a	glycogen synthase kinase 3 alpha	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:620351	D	RGD:9068941	20200609	RGD			PMID:8526919|REF_RGD_ID:10401824
8816741	Gsk3a	glycogen synthase kinase 3 alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816741	Gsk3a	glycogen synthase kinase 3 alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8816756	Tmem200a	transmembrane protein 200A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8816756	Tmem200a	transmembrane protein 200A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8816756	Tmem200a	transmembrane protein 200A	gene	DOID:1115	sarcoma		ISO	RGD:1345256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8816756	Tmem200a	transmembrane protein 200A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8816765	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8816765	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:0080600	COVID-19		ISO	RGD:1321886	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8816765	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1321886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8816765	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8816765	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1321886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8816765	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8816765	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8816765	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321886	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8816765	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816765	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8816765	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321886	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8816765	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8816765	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1321886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8816792	Rbm12b	RNA binding motif protein 12B	gene	DOID:10534	stomach cancer		ISO	RGD:1602033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8816792	Rbm12b	RNA binding motif protein 12B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8816792	Rbm12b	RNA binding motif protein 12B	gene	DOID:1115	sarcoma		ISO	RGD:1602033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8816792	Rbm12b	RNA binding motif protein 12B	gene	DOID:2661	myoepithelioma		ISO	RGD:1602033	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8816792	Rbm12b	RNA binding motif protein 12B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816859	Cwc22	CWC22 spliceosome associated protein homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8816859	Cwc22	CWC22 spliceosome associated protein homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8816859	Cwc22	CWC22 spliceosome associated protein homolog	gene	DOID:1115	sarcoma		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8816859	Cwc22	CWC22 spliceosome associated protein homolog	gene	DOID:1324	lung cancer		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8816859	Cwc22	CWC22 spliceosome associated protein homolog	gene	DOID:1909	melanoma		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8816859	Cwc22	CWC22 spliceosome associated protein homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1605651	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8816859	Cwc22	CWC22 spliceosome associated protein homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816859	Cwc22	CWC22 spliceosome associated protein homolog	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8816859	Cwc22	CWC22 spliceosome associated protein homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8816859	Cwc22	CWC22 spliceosome associated protein homolog	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8816859	Cwc22	CWC22 spliceosome associated protein homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816859	Cwc22	CWC22 spliceosome associated protein homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8816859	Cwc22	CWC22 spliceosome associated protein homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8816883	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8816883	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8816883	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:0060058	lymphoma		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8816883	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:10534	stomach cancer		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8816883	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8816883	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:1324	lung cancer		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8816883	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:1909	melanoma		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8816883	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:2373	hereditary elliptocytosis		ISO	RGD:1605128	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary elliptocytosis	
8816883	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:4362	cervical cancer		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8816883	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605128	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8816883	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816883	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:583	hemolytic anemia		ISO	RGD:1557540	D	RGD:9068941	20200609	RGD			PMID:9927493|REF_RGD_ID:11252099
8816883	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:630	genetic disease		ISO	RGD:1605128	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8816883	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:9002320	Neurobehavioral Manifestations		ISO	RGD:1557540	D	RGD:9068941	20200609	RGD			PMID:9822582|REF_RGD_ID:11252098
8816883	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8816883	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:9005732	Elliptocytosis 1		ISO	RGD:1605128	D	RGD:7240710	20180130	OMIM			
8816883	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:9005732	Elliptocytosis 1		ISO	RGD:1605128	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ELLIPTOCYTOSIS 1 | ClinVar Annotator: match by term: EPB41-related disorder | ClinVar Annotator: match by term: Elliptocytosis 1 | ClinVar Annotator: match by term: PROTEIN 4.1 OF ERYTHROCYTE MEMBRANE, DEFECT OF | ClinVar Annotator: match by term: elliptocytosis 1	PMID:25741868|PMID:28492532|PMID:38397451
8816883	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816883	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8816883	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:9834	hyperopia		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
8816927	Dynlrb1	dynein light chain roadblock-type 1	gene	DOID:10534	stomach cancer		ISO	RGD:734301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8816927	Dynlrb1	dynein light chain roadblock-type 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8816927	Dynlrb1	dynein light chain roadblock-type 1	gene	DOID:1115	sarcoma		ISO	RGD:734301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8816927	Dynlrb1	dynein light chain roadblock-type 1	gene	DOID:1909	melanoma		ISO	RGD:734301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8816927	Dynlrb1	dynein light chain roadblock-type 1	gene	DOID:4362	cervical cancer		ISO	RGD:734301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8816927	Dynlrb1	dynein light chain roadblock-type 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816927	Dynlrb1	dynein light chain roadblock-type 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734301	D	RGD:9068941	20200609	RGD			PMID:11750132|REF_RGD_ID:13208527
8816927	Dynlrb1	dynein light chain roadblock-type 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816927	Dynlrb1	dynein light chain roadblock-type 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8816942	Haao	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:0080016	spina bifida		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spinal dysraphism	PMID:25741868|PMID:28792876
8816942	Haao	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:0080204	renal hypoplasia		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868|PMID:28792876
8816942	Haao	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28792876
8816942	Haao	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:10534	stomach cancer		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8816942	Haao	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:1059	intellectual disability		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28792876
8816942	Haao	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:12858	Huntington's disease		ISO	RGD:71071	D	RGD:9068941	20200609	RGD			PMID:2527078|REF_RGD_ID:13524507
8816942	Haao	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:1324	lung cancer		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8816942	Haao	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:1882	atrial heart septal defect		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:28792876
8816942	Haao	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:731776	D	RGD:9068941	20230413	RGD		Ldlr knockout mouse	PMID:31589306|REF_RGD_ID:243065123
8816942	Haao	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:5419	schizophrenia		ISO	RGD:731775	D	RGD:9068941	20200609	RGD		protein:decreased activity:brain:	PMID:21036897|REF_RGD_ID:13513905
8816942	Haao	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:557	kidney disease		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	PMID:25741868|PMID:28792876
8816942	Haao	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816942	Haao	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8816942	Haao	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:9000808	Hypercholesterolemia	treatment	ISO	RGD:731776	D	RGD:9068941	20230413	RGD		Ldlr knockout mouse	PMID:31589306|REF_RGD_ID:243065123
8816942	Haao	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:9005044	Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1		ISO	RGD:731775	D	RGD:7240710	20190315	OMIM			
8816942	Haao	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:9005044	Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1		ISO	RGD:731775	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: CONGENITAL NAD DEFICIENCY DISORDER 1 | ClinVar Annotator: match by term: HAAO-related disorder | ClinVar Annotator: match by term: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 | ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 1	PMID:25741868|PMID:28792876|PMID:33942433
8816942	Haao	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816942	Haao	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:9007152	Talipes		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Talipes	PMID:25741868|PMID:28792876
8816942	Haao	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:9007661	Dwarfism		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28792876
8816942	Haao	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28792876
8816942	Haao	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:25741868|PMID:28792876
8816942	Haao	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	PMID:25741868|PMID:28792876
8816960	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8816960	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8816960	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1343459	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:32403198
8816960	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8816960	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8816960	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:3275	thymoma		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8816960	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:423	myopathy		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:32403198
8816960	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8816960	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:440	neuromuscular disease		ISO	RGD:1343459	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868|PMID:35869884
8816960	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868|PMID:32403198
8816960	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816960	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:9002092	Tubular Aggregate Myopathies		ISO	RGD:1343459	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Myopathy with tubular aggregates	PMID:25741868|PMID:32403198
8816960	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:9006229	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME		ISO	RGD:1343459	D	RGD:7240710	20211027	OMIM			
8816960	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:9006229	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME		ISO	RGD:1343459	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME | ClinVar Annotator: match by term: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome	PMID:25741868|PMID:32403198
8816960	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816970	Znf638	zinc finger protein 638	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8816970	Znf638	zinc finger protein 638	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8816970	Znf638	zinc finger protein 638	gene	DOID:0060058	lymphoma		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8816970	Znf638	zinc finger protein 638	gene	DOID:10534	stomach cancer		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8816970	Znf638	zinc finger protein 638	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8816970	Znf638	zinc finger protein 638	gene	DOID:1115	sarcoma		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8816970	Znf638	zinc finger protein 638	gene	DOID:1324	lung cancer		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8816970	Znf638	zinc finger protein 638	gene	DOID:1909	melanoma		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8816970	Znf638	zinc finger protein 638	gene	DOID:3070	high grade glioma		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8816970	Znf638	zinc finger protein 638	gene	DOID:3275	thymoma		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8816970	Znf638	zinc finger protein 638	gene	DOID:4362	cervical cancer		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8816970	Znf638	zinc finger protein 638	gene	DOID:5041	esophageal cancer		ISO	RGD:1349975	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Esophageal cancer | ClinVar Annotator: match by term: Malignant tumor of esophagus	
8816970	Znf638	zinc finger protein 638	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8816970	Znf638	zinc finger protein 638	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8816970	Znf638	zinc finger protein 638	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8816970	Znf638	zinc finger protein 638	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8816970	Znf638	zinc finger protein 638	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8816970	Znf638	zinc finger protein 638	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8817020	Nek7	NIMA related kinase 7	gene	DOID:0060058	lymphoma		ISO	RGD:1322471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8817020	Nek7	NIMA related kinase 7	gene	DOID:1115	sarcoma		ISO	RGD:1322471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8817020	Nek7	NIMA related kinase 7	gene	DOID:1324	lung cancer		ISO	RGD:1322471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8817020	Nek7	NIMA related kinase 7	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8817020	Nek7	NIMA related kinase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1322471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8817020	Nek7	NIMA related kinase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817020	Nek7	NIMA related kinase 7	gene	DOID:9004657	Weight Gain		ISO	RGD:1322471	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8817020	Nek7	NIMA related kinase 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322471	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321789	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1321789	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: rod-cone dystrophy	PMID:15137946|PMID:18203199|PMID:20498079|PMID:22025579|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:31506453|PMID:32581362|PMID:34448047|PMID:35835773
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321789	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:15137946|PMID:20498079|PMID:22025579|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:31506453|PMID:32581362|PMID:34448047|PMID:35835773
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:0060058	lymphoma		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:0110127	Bardet-Biedl syndrome 5		ISO	RGD:1321789	D	RGD:7240710	20180130	OMIM			
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:0110127	Bardet-Biedl syndrome 5		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 5 | ClinVar Annotator: match by term: BBS5-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 5	PMID:11342895|PMID:15137946|PMID:16199547|PMID:16877420|PMID:17576681|PMID:18203199|PMID:19367329|PMID:21052717|PMID:21209035|PMID:22626039|PMID:22773737|PMID:24400638|PMID:25525159|PMID:25741868|PMID:26325687|PMID:27708425|PMID:28041643|PMID:28492532|PMID:29806606|PMID:30614526|PMID:30718709|PMID:31456290|PMID:31760295|PMID:31964843|PMID:32451492|PMID:32641690|PMID:33572860|PMID:35835773|PMID:38219857|PMID:38576124|PMID:9536098
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:10534	stomach cancer		ISO	RGD:1321789	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:15137946|PMID:20498079|PMID:22025579|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:31506453|PMID:32581362|PMID:34448047|PMID:35835773
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15137946|PMID:25741868|PMID:26325687|PMID:28041643|PMID:29806606
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:1059	intellectual disability		ISO	RGD:1321789	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:15137946|PMID:20498079|PMID:22025579|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:31506453|PMID:32581362|PMID:34448047|PMID:35835773
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:10591	pre-eclampsia		ISO	RGD:1321789	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Preeclampsia	PMID:15137946|PMID:20498079|PMID:22025579|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:31506453|PMID:32581362|PMID:34448047|PMID:35835773
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:10608	celiac disease		ISO	RGD:1321789	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Celiac disease	PMID:15137946|PMID:20498079|PMID:22025579|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:31506453|PMID:32581362|PMID:34448047|PMID:35835773
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:1115	sarcoma		ISO	RGD:1321789	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:15137946|PMID:20498079|PMID:22025579|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:31506453|PMID:32581362|PMID:34448047|PMID:35835773
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:12128	pica disease		ISO	RGD:1321789	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pica	PMID:15137946|PMID:20498079|PMID:22025579|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:31506453|PMID:32581362|PMID:34448047|PMID:35835773
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:12849	autistic disorder		ISO	RGD:1321789	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism	PMID:15137946|PMID:20498079|PMID:22025579|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:31506453|PMID:32581362|PMID:34448047|PMID:35835773
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:1324	lung cancer		ISO	RGD:1321789	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:15137946|PMID:20498079|PMID:22025579|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:31506453|PMID:32581362|PMID:34448047|PMID:35835773
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:1909	melanoma		ISO	RGD:1321789	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:15137946|PMID:20498079|PMID:22025579|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:31506453|PMID:32581362|PMID:34448047|PMID:35835773
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1321789	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:15137946|PMID:16199547|PMID:16877420|PMID:17576681|PMID:19797195|PMID:20498079|PMID:21209035|PMID:21344540|PMID:22025579|PMID:22773737|PMID:24400638|PMID:24559376|PMID:25640679|PMID:25741868|PMID:25982971|PMID:26325687|PMID:26355662|PMID:26766544|PMID:27708425|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:29806606|PMID:30029678|PMID:30614526|PMID:31506453|PMID:32451492|PMID:32531858|PMID:32581362|PMID:32811249|PMID:34448047|PMID:35835773|PMID:36066546|PMID:37240074|PMID:37293956|PMID:37431782|PMID:37510321|PMID:9536098
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:2030	anxiety disorder		ISO	RGD:1321789	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:15137946|PMID:20498079|PMID:22025579|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:31506453|PMID:32581362|PMID:34448047|PMID:35835773
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321789	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:15137946|PMID:20498079|PMID:22025579|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:31506453|PMID:32581362|PMID:34448047|PMID:35835773
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:3275	thymoma		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:4188	echolalia		ISO	RGD:1321789	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Echolalia	PMID:15137946|PMID:20498079|PMID:22025579|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:31506453|PMID:32581362|PMID:34448047|PMID:35835773
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321789	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:15137946|PMID:20498079|PMID:22025579|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:31506453|PMID:32581362|PMID:34448047|PMID:35835773
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1321789	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:5679	retinal disease		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:28492532
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:630	genetic disease		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:8445	intestinal volvulus		ISO	RGD:1321789	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Volvulus	PMID:15137946|PMID:20498079|PMID:22025579|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:31506453|PMID:32581362|PMID:34448047|PMID:35835773
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:8501	fundus dystrophy		ISO	RGD:1321789	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:15137946|PMID:17576681|PMID:20498079|PMID:22025579|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:31506453|PMID:32581362|PMID:34448047|PMID:35835773|PMID:9536098
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:9000343	Vision Disorders		ISO	RGD:1321789	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:15137946|PMID:20498079|PMID:22025579|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:31506453|PMID:32581362|PMID:34448047|PMID:35835773
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321789	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:15137946|PMID:20498079|PMID:22025579|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:31506453|PMID:32581362|PMID:34448047|PMID:35835773
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19797195|PMID:25741868|PMID:25982971|PMID:28492532
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321789	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:15137946|PMID:20498079|PMID:22025579|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:31506453|PMID:32581362|PMID:34448047|PMID:35835773
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8817033	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1321789	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:15137946|PMID:20498079|PMID:22025579|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:31506453|PMID:32581362|PMID:34448047|PMID:35835773
8817050	Sin3b	SIN3 transcription regulator family member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8817050	Sin3b	SIN3 transcription regulator family member B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8817050	Sin3b	SIN3 transcription regulator family member B	gene	DOID:1115	sarcoma		ISO	RGD:1348412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8817050	Sin3b	SIN3 transcription regulator family member B	gene	DOID:12270	coloboma		ISO	RGD:1348412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coloboma	PMID:25741868
8817050	Sin3b	SIN3 transcription regulator family member B	gene	DOID:1324	lung cancer		ISO	RGD:1348412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8817050	Sin3b	SIN3 transcription regulator family member B	gene	DOID:3275	thymoma		ISO	RGD:1348412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8817050	Sin3b	SIN3 transcription regulator family member B	gene	DOID:5041	esophageal cancer		ISO	RGD:1348412	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8817050	Sin3b	SIN3 transcription regulator family member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817050	Sin3b	SIN3 transcription regulator family member B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8817050	Sin3b	SIN3 transcription regulator family member B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348412	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:32467258|PMID:33811806
8817050	Sin3b	SIN3 transcription regulator family member B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8817050	Sin3b	SIN3 transcription regulator family member B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8817072	Rsu1	Ras suppressor protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8817072	Rsu1	Ras suppressor protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8817072	Rsu1	Ras suppressor protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8817072	Rsu1	Ras suppressor protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1313402	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8817072	Rsu1	Ras suppressor protein 1	gene	DOID:11476	osteoporosis		ISO	RGD:1313402	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
8817072	Rsu1	Ras suppressor protein 1	gene	DOID:1909	melanoma		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8817072	Rsu1	Ras suppressor protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8817072	Rsu1	Ras suppressor protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8817072	Rsu1	Ras suppressor protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8817072	Rsu1	Ras suppressor protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8817072	Rsu1	Ras suppressor protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313402	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8817072	Rsu1	Ras suppressor protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817072	Rsu1	Ras suppressor protein 1	gene	DOID:9001341	Chloracne		ISO	RGD:1313402	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
8817072	Rsu1	Ras suppressor protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8817072	Rsu1	Ras suppressor protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8817072	Rsu1	Ras suppressor protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8817094	Epx	eosinophil peroxidase	gene	DOID:2841	asthma		ISO	RGD:1323569	D	RGD:9068941	20200609	RGD		protein:increased activity:sputum,nasal,pharyngeal mucosa	PMID:26645423|REF_RGD_ID:11574908
8817094	Epx	eosinophil peroxidase	gene	DOID:2841	asthma	disease_progression	ISO	RGD:1323569	D	RGD:9068941	20200609	RGD			PMID:20813885|REF_RGD_ID:13506891
8817094	Epx	eosinophil peroxidase	gene	DOID:2841	asthma	severity	ISO	RGD:1323569	D	RGD:9068941	20200609	RGD			PMID:12199967|REF_RGD_ID:13506892
8817094	Epx	eosinophil peroxidase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8817094	Epx	eosinophil peroxidase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1323569	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
8817094	Epx	eosinophil peroxidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817094	Epx	eosinophil peroxidase	gene	DOID:9000406	Eosinophilic Asthma	treatment	ISO	RGD:1323569	D	RGD:9068941	20200609	RGD			PMID:28751233|REF_RGD_ID:13506890
8817094	Epx	eosinophil peroxidase	gene	DOID:9006769	Presentey Anomaly		ISO	RGD:1323569	D	RGD:7240710	20180130	OMIM			
8817094	Epx	eosinophil peroxidase	gene	DOID:9006769	Presentey Anomaly		ISO	RGD:1323569	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EOSINOPHIL PEROXIDASE DEFICIENCY | ClinVar Annotator: match by term: Eosinophil peroxidase deficiency	PMID:25741868
8817094	Epx	eosinophil peroxidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8817094	Epx	eosinophil peroxidase	gene	DOID:9415	allergic asthma		ISO	RGD:1323569	D	RGD:9068941	20200609	RGD		protein:increased expression:urine:	PMID:11846868|REF_RGD_ID:13506893
8817120	Micu3	mitochondrial calcium uptake family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8817120	Micu3	mitochondrial calcium uptake family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8817120	Micu3	mitochondrial calcium uptake family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8817120	Micu3	mitochondrial calcium uptake family member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8817120	Micu3	mitochondrial calcium uptake family member 3	gene	DOID:3275	thymoma		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8817120	Micu3	mitochondrial calcium uptake family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817120	Micu3	mitochondrial calcium uptake family member 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8817120	Micu3	mitochondrial calcium uptake family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8817120	Micu3	mitochondrial calcium uptake family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8817120	Micu3	mitochondrial calcium uptake family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8817138	Ctps1	CTP synthase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8817138	Ctps1	CTP synthase 1	gene	DOID:0050625	biliary tract benign neoplasm		ISO	RGD:1322315	D	RGD:9068941	20200609	RGD		mRNA:increased expression:biliary tract neoplasm (human)	PMID:12819026|REF_RGD_ID:2317903
8817138	Ctps1	CTP synthase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8817138	Ctps1	CTP synthase 1	gene	DOID:0111938	immunodeficiency 24		ISO	RGD:1322315	D	RGD:7240710	20180130	OMIM			
8817138	Ctps1	CTP synthase 1	gene	DOID:0111938	immunodeficiency 24		ISO	RGD:1322315	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: CTPS1-related condition | ClinVar Annotator: match by term: Immunodeficiency 24	PMID:17576681|PMID:28492532|PMID:9536098
8817138	Ctps1	CTP synthase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8817138	Ctps1	CTP synthase 1	gene	DOID:1115	sarcoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8817138	Ctps1	CTP synthase 1	gene	DOID:1909	melanoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8817138	Ctps1	CTP synthase 1	gene	DOID:3275	thymoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8817138	Ctps1	CTP synthase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8817138	Ctps1	CTP synthase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8817138	Ctps1	CTP synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:24870241|PMID:25741868|PMID:27638562|PMID:28492532|PMID:32161190|PMID:9536098
8817138	Ctps1	CTP synthase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8817138	Ctps1	CTP synthase 1	gene	DOID:9005207	Nasopharyngeal Neoplasms		ISO	RGD:1322315	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nasopharynx (human)	PMID:19302751|REF_RGD_ID:5132859
8817138	Ctps1	CTP synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8817138	Ctps1	CTP synthase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
8817138	Ctps1	CTP synthase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8817138	Ctps1	CTP synthase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
8817169	Ttyh2	tweety family member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8817169	Ttyh2	tweety family member 2	gene	DOID:3275	thymoma		ISO	RGD:1354269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8817169	Ttyh2	tweety family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1354269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8817169	Ttyh2	tweety family member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8817169	Ttyh2	tweety family member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8817169	Ttyh2	tweety family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1354269	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8817169	Ttyh2	tweety family member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8817169	Ttyh2	tweety family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8817169	Ttyh2	tweety family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8817193	Lrig1	leucine rich repeats and immunoglobulin like domains 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8817193	Lrig1	leucine rich repeats and immunoglobulin like domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8817193	Lrig1	leucine rich repeats and immunoglobulin like domains 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1315602	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
8817193	Lrig1	leucine rich repeats and immunoglobulin like domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8817193	Lrig1	leucine rich repeats and immunoglobulin like domains 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8817193	Lrig1	leucine rich repeats and immunoglobulin like domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8817193	Lrig1	leucine rich repeats and immunoglobulin like domains 1	gene	DOID:1909	melanoma		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8817193	Lrig1	leucine rich repeats and immunoglobulin like domains 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8817193	Lrig1	leucine rich repeats and immunoglobulin like domains 1	gene	DOID:3275	thymoma		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8817193	Lrig1	leucine rich repeats and immunoglobulin like domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8817193	Lrig1	leucine rich repeats and immunoglobulin like domains 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8817193	Lrig1	leucine rich repeats and immunoglobulin like domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315602	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8817193	Lrig1	leucine rich repeats and immunoglobulin like domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817193	Lrig1	leucine rich repeats and immunoglobulin like domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8817193	Lrig1	leucine rich repeats and immunoglobulin like domains 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315602	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8817193	Lrig1	leucine rich repeats and immunoglobulin like domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8817193	Lrig1	leucine rich repeats and immunoglobulin like domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8817217	Sacm1l	SAC1 like phosphatidylinositide phosphatase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8817217	Sacm1l	SAC1 like phosphatidylinositide phosphatase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8817217	Sacm1l	SAC1 like phosphatidylinositide phosphatase	gene	DOID:10534	stomach cancer		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8817217	Sacm1l	SAC1 like phosphatidylinositide phosphatase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8817217	Sacm1l	SAC1 like phosphatidylinositide phosphatase	gene	DOID:1115	sarcoma		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8817217	Sacm1l	SAC1 like phosphatidylinositide phosphatase	gene	DOID:1909	melanoma		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8817217	Sacm1l	SAC1 like phosphatidylinositide phosphatase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8817217	Sacm1l	SAC1 like phosphatidylinositide phosphatase	gene	DOID:2394	ovarian cancer		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8817217	Sacm1l	SAC1 like phosphatidylinositide phosphatase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8817217	Sacm1l	SAC1 like phosphatidylinositide phosphatase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8817217	Sacm1l	SAC1 like phosphatidylinositide phosphatase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8817217	Sacm1l	SAC1 like phosphatidylinositide phosphatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8817217	Sacm1l	SAC1 like phosphatidylinositide phosphatase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8817241	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8817241	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:0060037	developmental disorder of mental health		ISO	RGD:1320669	D	RGD:9068941	20231109	RGD		DNA:SNP:CDS:multiple (human)	PMID:35642741|REF_RGD_ID:401854249
8817241	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF	
8817241	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:0080600	COVID-19		ISO	RGD:1320669	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8817241	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:28492532
8817241	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:0112093	nuclear type mitochondrial complex I deficiency 3		ISO	RGD:1320669	D	RGD:7240710	20190315	OMIM			
8817241	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:0112093	nuclear type mitochondrial complex I deficiency 3		ISO	RGD:1320669	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 3 | ClinVar Annotator: match by term: NDUFS7-related condition	PMID:17604671|PMID:25741868|PMID:26024641|PMID:28492532
8817241	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:1059	intellectual disability		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8817241	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:1115	sarcoma		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8817241	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:12849	autistic disorder		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532
8817241	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:3312	bipolar disorder		ISO	RGD:1320669	D	RGD:9068941	20200609	RGD		protein:decreased expression:prefrontal cortex (human)	PMID:20368511|REF_RGD_ID:6484696
8817241	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:3652	Leigh disease		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868|PMID:28492532
8817241	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:5041	esophageal cancer		ISO	RGD:1320669	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8817241	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817241	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:630	genetic disease		ISO	RGD:1320669	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8817241	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	
8817253	Klhl20	kelch like family member 20	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8817253	Klhl20	kelch like family member 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8817253	Klhl20	kelch like family member 20	gene	DOID:0070713	neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities		ISO	RGD:1343100	D	RGD:7240710	20260603	OMIM			
8817253	Klhl20	kelch like family member 20	gene	DOID:0070713	neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities		ISO	RGD:1343100	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET SEIZURES, FACIAL DYSMORPHISM, AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities	PMID:25741868|PMID:28492532|PMID:29738522|PMID:36214804
8817253	Klhl20	kelch like family member 20	gene	DOID:10283	prostate cancer		ISO	RGD:1343100	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8817253	Klhl20	kelch like family member 20	gene	DOID:10283	prostate cancer		ISO	RGD:1343100	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8817253	Klhl20	kelch like family member 20	gene	DOID:1059	intellectual disability		ISO	RGD:1343100	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8817253	Klhl20	kelch like family member 20	gene	DOID:1909	melanoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8817253	Klhl20	kelch like family member 20	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8817253	Klhl20	kelch like family member 20	gene	DOID:3070	high grade glioma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8817253	Klhl20	kelch like family member 20	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8817253	Klhl20	kelch like family member 20	gene	DOID:5041	esophageal cancer		ISO	RGD:1343100	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8817253	Klhl20	kelch like family member 20	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8817253	Klhl20	kelch like family member 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817253	Klhl20	kelch like family member 20	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8817253	Klhl20	kelch like family member 20	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343100	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8817253	Klhl20	kelch like family member 20	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8817253	Klhl20	kelch like family member 20	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343100	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:36214804
8817253	Klhl20	kelch like family member 20	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8817253	Klhl20	kelch like family member 20	gene	DOID:9970	obesity		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
8817271	Slc51b	SLC51 subunit beta	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1604245	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16423920
8817271	Slc51b	SLC51 subunit beta	gene	DOID:13580	cholestasis		ISO	RGD:1604245	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16423920|PMID:22461449
8817271	Slc51b	SLC51 subunit beta	gene	DOID:1561	cognitive disorder		ISO	RGD:1604245	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29382564
8817271	Slc51b	SLC51 subunit beta	gene	DOID:9002010	Primary Bile Acid Malabsorption 2		ISO	RGD:1604245	D	RGD:7240710	20210825	OMIM			
8817271	Slc51b	SLC51 subunit beta	gene	DOID:9002661	Diabetes Complications		ISO	RGD:1604245	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29382564
8817279	Spout1	SPOUT domain containing methyltransferase 1	gene	DOID:9009337	NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, SEIZURES, AND BRAIN ABNORMALITIES		ISO	RGD:1343592	D	RGD:7240710	20250521	OMIM			
8817295	Pidd1	p53-induced death domain protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8817295	Pidd1	p53-induced death domain protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8817295	Pidd1	p53-induced death domain protein 1	gene	DOID:0081234	autosomal recessive intellectual developmental disorder 75		ISO	RGD:1323429	D	RGD:7240710	20220427	OMIM			
8817295	Pidd1	p53-induced death domain protein 1	gene	DOID:0081234	autosomal recessive intellectual developmental disorder 75		ISO	RGD:1323429	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | ClinVar Annotator: match by term: PIDD1-associated neurodevelopmental disorder | ClinVar Annotator: match by term: PIDD1-related condition	PMID:16199547|PMID:25741868|PMID:28397838|PMID:28492532|PMID:29302074|PMID:34163010
8817295	Pidd1	p53-induced death domain protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8817295	Pidd1	p53-induced death domain protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1323429	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8817295	Pidd1	p53-induced death domain protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8817295	Pidd1	p53-induced death domain protein 1	gene	DOID:1909	melanoma		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8817295	Pidd1	p53-induced death domain protein 1	gene	DOID:3275	thymoma		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8817295	Pidd1	p53-induced death domain protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323429	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8817295	Pidd1	p53-induced death domain protein 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1323429	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20208132
8817295	Pidd1	p53-induced death domain protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8817295	Pidd1	p53-induced death domain protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323429	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8817295	Pidd1	p53-induced death domain protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817295	Pidd1	p53-induced death domain protein 1	gene	DOID:630	genetic disease		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8817295	Pidd1	p53-induced death domain protein 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8817295	Pidd1	p53-induced death domain protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8817295	Pidd1	p53-induced death domain protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8817295	Pidd1	p53-induced death domain protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8817316	Bcl2l12	BCL2 like 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8817316	Bcl2l12	BCL2 like 12	gene	DOID:10534	stomach cancer		ISO	RGD:1606211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8817316	Bcl2l12	BCL2 like 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8817316	Bcl2l12	BCL2 like 12	gene	DOID:1115	sarcoma		ISO	RGD:1606211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8817316	Bcl2l12	BCL2 like 12	gene	DOID:1324	lung cancer		ISO	RGD:1606211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8817316	Bcl2l12	BCL2 like 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8817316	Bcl2l12	BCL2 like 12	gene	DOID:3275	thymoma		ISO	RGD:1606211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8817316	Bcl2l12	BCL2 like 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817316	Bcl2l12	BCL2 like 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8817316	Bcl2l12	BCL2 like 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8817367	Nlrp6	NLR family pyrin domain containing 6	gene	DOID:10534	stomach cancer		ISO	RGD:1350327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8817367	Nlrp6	NLR family pyrin domain containing 6	gene	DOID:3275	thymoma		ISO	RGD:1350327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8817367	Nlrp6	NLR family pyrin domain containing 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8817367	Nlrp6	NLR family pyrin domain containing 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8817367	Nlrp6	NLR family pyrin domain containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1350327	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8817367	Nlrp6	NLR family pyrin domain containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817367	Nlrp6	NLR family pyrin domain containing 6	gene	DOID:6039	uveal melanoma		ISO	RGD:1350327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8817383	Rsph9	radial spoke head component 9	gene	DOID:0110601	primary ciliary dyskinesia 12		ISO	RGD:1321745	D	RGD:7240710	20180130	OMIM			
8817383	Rsph9	radial spoke head component 9	gene	DOID:0110601	primary ciliary dyskinesia 12		ISO	RGD:1321745	D	RGD:8554872	20250821	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 12, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 12 | ClinVar Annotator: match by term: RSPH9-related disorder	PMID:19200523|PMID:23993197|PMID:24033266|PMID:25741868|PMID:25789548|PMID:28492532
8817383	Rsph9	radial spoke head component 9	gene	DOID:0112253	combined cellular and humoral immune defects with granulomas		ISO	RGD:1321745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas	PMID:19200523|PMID:25741868
8817383	Rsph9	radial spoke head component 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8817383	Rsph9	radial spoke head component 9	gene	DOID:3275	thymoma		ISO	RGD:1321745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8817383	Rsph9	radial spoke head component 9	gene	DOID:4362	cervical cancer		ISO	RGD:1321745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8817383	Rsph9	radial spoke head component 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817383	Rsph9	radial spoke head component 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8817383	Rsph9	radial spoke head component 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8817383	Rsph9	radial spoke head component 9	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1321745	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:19200523|PMID:22384920|PMID:23993197|PMID:24033266|PMID:24307375|PMID:25741868|PMID:25789548|PMID:28492532|PMID:30067075
8817392	Tubgcp6	tubulin gamma complex component 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8817392	Tubgcp6	tubulin gamma complex component 6	gene	DOID:0080105	microcephaly and chorioretinopathy 1		ISO	RGD:1317114	D	RGD:7240710	20180130	OMIM			
8817392	Tubgcp6	tubulin gamma complex component 6	gene	DOID:0080105	microcephaly and chorioretinopathy 1		ISO	RGD:1317114	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 | ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 1 | ClinVar Annotator: match by term: Microcephaly and chorioretinopathy with or without mental retardation | ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1 | ClinVar Annotator: match by term: Microcephaly with chorioretinopathy, autosomal recessive | ClinVar Annotator: match by term: TUBGCP6-related condition	PMID:16199547|PMID:25344692|PMID:25741868|PMID:28492532|PMID:31077665|PMID:33458610|PMID:36307859|PMID:37031378|PMID:37229200
8817392	Tubgcp6	tubulin gamma complex component 6	gene	DOID:10534	stomach cancer		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8817392	Tubgcp6	tubulin gamma complex component 6	gene	DOID:10907	microcephaly		ISO	RGD:1317114	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8817392	Tubgcp6	tubulin gamma complex component 6	gene	DOID:1115	sarcoma		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8817392	Tubgcp6	tubulin gamma complex component 6	gene	DOID:1324	lung cancer		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8817392	Tubgcp6	tubulin gamma complex component 6	gene	DOID:1909	melanoma		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8817392	Tubgcp6	tubulin gamma complex component 6	gene	DOID:4362	cervical cancer		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8817392	Tubgcp6	tubulin gamma complex component 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8817392	Tubgcp6	tubulin gamma complex component 6	gene	DOID:5723	optic atrophy		ISO	RGD:1317114	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8817392	Tubgcp6	tubulin gamma complex component 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8817392	Tubgcp6	tubulin gamma complex component 6	gene	DOID:630	genetic disease		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27660388|PMID:28492532|PMID:31069529
8817392	Tubgcp6	tubulin gamma complex component 6	gene	DOID:8501	fundus dystrophy		ISO	RGD:1317114	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532|PMID:31964843
8817392	Tubgcp6	tubulin gamma complex component 6	gene	DOID:9005077	Joint Instability		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
8817392	Tubgcp6	tubulin gamma complex component 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8817392	Tubgcp6	tubulin gamma complex component 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8817444	Stxbp3	syntaxin binding protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8817444	Stxbp3	syntaxin binding protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8817444	Stxbp3	syntaxin binding protein 3	gene	DOID:0060180	colitis		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: colitis	PMID:25741868
8817444	Stxbp3	syntaxin binding protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8817444	Stxbp3	syntaxin binding protein 3	gene	DOID:1115	sarcoma		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8817444	Stxbp3	syntaxin binding protein 3	gene	DOID:1324	lung cancer		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8817444	Stxbp3	syntaxin binding protein 3	gene	DOID:1909	melanoma		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8817444	Stxbp3	syntaxin binding protein 3	gene	DOID:2394	ovarian cancer		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8817444	Stxbp3	syntaxin binding protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8817444	Stxbp3	syntaxin binding protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817444	Stxbp3	syntaxin binding protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8817444	Stxbp3	syntaxin binding protein 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8817444	Stxbp3	syntaxin binding protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8817444	Stxbp3	syntaxin binding protein 3	gene	DOID:9007944	IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION		ISO	RGD:732509	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Immune dysregulation, autoimmunity, and autoinflammation	PMID:25741868
8817444	Stxbp3	syntaxin binding protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8817444	Stxbp3	syntaxin binding protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8817444	Stxbp3	syntaxin binding protein 3	gene	DOID:9256	colorectal cancer		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8817467	LOC102021128	olfactory receptor 2T1	gene	DOID:10283	prostate cancer		ISO	RGD:1353113	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8817467	LOC102021128	olfactory receptor 2T1	gene	DOID:10283	prostate cancer		ISO	RGD:1353113	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8817470	Clca1	chloride channel accessory 1	gene	DOID:10320	asbestosis		ISO	RGD:1314776	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:17637221|REF_RGD_ID:4145655
8817470	Clca1	chloride channel accessory 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8817470	Clca1	chloride channel accessory 1	gene	DOID:1485	cystic fibrosis		ISO	RGD:1314775	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:respiratory system mucosa	PMID:15218996|REF_RGD_ID:4145657
8817470	Clca1	chloride channel accessory 1	gene	DOID:2841	asthma		ISO	RGD:1314775	D	RGD:9068941	20200609	RGD			PMID:17898169|REF_RGD_ID:4145653
8817470	Clca1	chloride channel accessory 1	gene	DOID:2841	asthma		ISO	RGD:1314776	D	RGD:9068941	20200609	RGD			PMID:11296262|REF_RGD_ID:4145661
8817470	Clca1	chloride channel accessory 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1314775	D	RGD:9068941	20200609	RGD		DNA:SNPs (human)	PMID:15318163|REF_RGD_ID:4145656
8817470	Clca1	chloride channel accessory 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1314775	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple (human)	PMID:14985398|REF_RGD_ID:1331524
8817470	Clca1	chloride channel accessory 1	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1314775	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bronchus	PMID:17637221|REF_RGD_ID:4145655
8817470	Clca1	chloride channel accessory 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8817496	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8817496	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:0080867	primary ovarian insufficiency 10		ISO	RGD:1313114	D	RGD:7240710	20180130	OMIM			
8817496	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:0080867	primary ovarian insufficiency 10		ISO	RGD:1313114	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 10 | ClinVar Annotator: match by term: Premature ovarian failure 10	PMID:25741868
8817496	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:0111001	Joubert syndrome 6		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 6	PMID:25741868
8817496	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:10534	stomach cancer		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8817496	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8817496	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:11476	osteoporosis		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:31042289
8817496	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:1324	lung cancer		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8817496	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:13938	amenorrhea		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:25741868|PMID:28863940
8817496	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:1909	melanoma		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8817496	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8817496	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:3070	high grade glioma		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8817496	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:4362	cervical cancer		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8817496	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1313114	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8817496	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8817496	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817496	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:6039	uveal melanoma		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8817496	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:630	genetic disease		ISO	RGD:1313114	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8817496	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8817496	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:9007661	Dwarfism		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:31042289
8817496	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8817496	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8817522	Kctd9	potassium channel tetramerization domain containing 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8817522	Kctd9	potassium channel tetramerization domain containing 9	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8817522	Kctd9	potassium channel tetramerization domain containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817522	Kctd9	potassium channel tetramerization domain containing 9	gene	DOID:6039	uveal melanoma		ISO	RGD:1323768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8817522	Kctd9	potassium channel tetramerization domain containing 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8817522	Kctd9	potassium channel tetramerization domain containing 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8817542	Eif2a	eukaryotic translation initiation factor 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8817542	Eif2a	eukaryotic translation initiation factor 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8817542	Eif2a	eukaryotic translation initiation factor 2A	gene	DOID:0060940	dystonia 33		ISO	RGD:1605026	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Dystonia 33	PMID:25741868
8817542	Eif2a	eukaryotic translation initiation factor 2A	gene	DOID:0080195	Marinesco-Sjogren syndrome		ISO	RGD:1605026	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Marinesco-Sjogren syndrome	PMID:25741868
8817542	Eif2a	eukaryotic translation initiation factor 2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8817542	Eif2a	eukaryotic translation initiation factor 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1605026	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8817542	Eif2a	eukaryotic translation initiation factor 2A	gene	DOID:5154	borna disease		ISO	RGD:1589591	D	RGD:9068941	20200702	RGD		protein:increased expression:cerebellum,hippocampus	PMID:16912310|REF_RGD_ID:32733622
8817542	Eif2a	eukaryotic translation initiation factor 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817542	Eif2a	eukaryotic translation initiation factor 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8817542	Eif2a	eukaryotic translation initiation factor 2A	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1605026	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19041636
8817542	Eif2a	eukaryotic translation initiation factor 2A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8817542	Eif2a	eukaryotic translation initiation factor 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8817542	Eif2a	eukaryotic translation initiation factor 2A	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1605026	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19041636
8817562	Terb2	telomere repeat binding bouquet formation protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8817562	Terb2	telomere repeat binding bouquet formation protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8817562	Terb2	telomere repeat binding bouquet formation protein 2	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1606959	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868
8817562	Terb2	telomere repeat binding bouquet formation protein 2	gene	DOID:0112357	spermatogenic failure 59		ISO	RGD:1606959	D	RGD:7240710	20211222	OMIM			
8817562	Terb2	telomere repeat binding bouquet formation protein 2	gene	DOID:0112357	spermatogenic failure 59		ISO	RGD:1606959	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 59	
8817562	Terb2	telomere repeat binding bouquet formation protein 2	gene	DOID:3275	thymoma		ISO	RGD:1606959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8817562	Terb2	telomere repeat binding bouquet formation protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8817573	Iqch	IQ motif containing H	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8817573	Iqch	IQ motif containing H	gene	DOID:1909	melanoma		ISO	RGD:1604310	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
8817573	Iqch	IQ motif containing H	gene	DOID:4362	cervical cancer		ISO	RGD:1604310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8817573	Iqch	IQ motif containing H	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8817573	Iqch	IQ motif containing H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817573	Iqch	IQ motif containing H	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8817598	Pxmp4	peroxisomal membrane protein 4	gene	DOID:3070	high grade glioma		ISO	RGD:1348847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8817598	Pxmp4	peroxisomal membrane protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1348847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8817598	Pxmp4	peroxisomal membrane protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1348847	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8817598	Pxmp4	peroxisomal membrane protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817598	Pxmp4	peroxisomal membrane protein 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8817598	Pxmp4	peroxisomal membrane protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8817611	Ecm2	extracellular matrix protein 2	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1318155	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8817638	Bcat1	branched chain amino acid transaminase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1345403	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8817638	Bcat1	branched chain amino acid transaminase 1	gene	DOID:13580	cholestasis		ISO	RGD:1345403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
8817638	Bcat1	branched chain amino acid transaminase 1	gene	DOID:1909	melanoma		ISO	RGD:1345403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8817638	Bcat1	branched chain amino acid transaminase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817638	Bcat1	branched chain amino acid transaminase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8817638	Bcat1	branched chain amino acid transaminase 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:2195	D	RGD:9068941	20200609	RGD		Protein:increased expression:neurons	PMID:10686349|REF_RGD_ID:631308
8817638	Bcat1	branched chain amino acid transaminase 1	gene	DOID:9004657	Weight Gain		ISO	RGD:1345403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8817638	Bcat1	branched chain amino acid transaminase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8817638	Bcat1	branched chain amino acid transaminase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8817657	Vamp8	vesicle associated membrane protein 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8817657	Vamp8	vesicle associated membrane protein 8	gene	DOID:1324	lung cancer		ISO	RGD:1347649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8817657	Vamp8	vesicle associated membrane protein 8	gene	DOID:305	carcinoma		ISO	RGD:1347649	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8817657	Vamp8	vesicle associated membrane protein 8	gene	DOID:3393	coronary artery disease		ISO	RGD:1347649	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:34961328
8817657	Vamp8	vesicle associated membrane protein 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817657	Vamp8	vesicle associated membrane protein 8	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1347649	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8817657	Vamp8	vesicle associated membrane protein 8	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1347649	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353292	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:9002189	High Myopia		ISO	RGD:1353292	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:9003349	Rothmund-Thomson Syndrome Type 1		ISO	RGD:1353292	D	RGD:7240710	20191030	OMIM			
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:9003349	Rothmund-Thomson Syndrome Type 1		ISO	RGD:1353292	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ROTHMUND-THOMSON SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 1	PMID:25741868
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:9005992	Rothmund-Thomson Syndrome Type 2		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 2	PMID:25741868
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8817665	Anapc1	anaphase promoting complex subunit 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8817725	Herc4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8817725	Herc4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1322175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8817725	Herc4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:1115	sarcoma		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8817725	Herc4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:3275	thymoma		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8817725	Herc4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8817725	Herc4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1322175	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8817725	Herc4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817725	Herc4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8817725	Herc4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8817725	Herc4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8817725	Herc4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8817770	Ube2k	ubiquitin conjugating enzyme E2 K	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8817770	Ube2k	ubiquitin conjugating enzyme E2 K	gene	DOID:1115	sarcoma		ISO	RGD:1323181	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8817770	Ube2k	ubiquitin conjugating enzyme E2 K	gene	DOID:3070	high grade glioma		ISO	RGD:1323181	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:38963134
8817770	Ube2k	ubiquitin conjugating enzyme E2 K	gene	DOID:4362	cervical cancer		ISO	RGD:1323181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8817770	Ube2k	ubiquitin conjugating enzyme E2 K	gene	DOID:5041	esophageal cancer		ISO	RGD:1323181	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8817770	Ube2k	ubiquitin conjugating enzyme E2 K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817770	Ube2k	ubiquitin conjugating enzyme E2 K	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8817781	Msantd1	Myb/SANT DNA binding domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8817781	Msantd1	Myb/SANT DNA binding domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604952	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8817798	Lsm14a	LSM14A mRNA processing body assembly factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8817798	Lsm14a	LSM14A mRNA processing body assembly factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8817798	Lsm14a	LSM14A mRNA processing body assembly factor	gene	DOID:1115	sarcoma		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8817798	Lsm14a	LSM14A mRNA processing body assembly factor	gene	DOID:1324	lung cancer		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8817798	Lsm14a	LSM14A mRNA processing body assembly factor	gene	DOID:1909	melanoma		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8817798	Lsm14a	LSM14A mRNA processing body assembly factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8817798	Lsm14a	LSM14A mRNA processing body assembly factor	gene	DOID:4362	cervical cancer		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8817798	Lsm14a	LSM14A mRNA processing body assembly factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817798	Lsm14a	LSM14A mRNA processing body assembly factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8817821	Ahsg	alpha 2-HS glycoprotein	gene	DOID:0051061	stroke		ISO	RGD:736027	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19029462|REF_RGD_ID:2313810
8817821	Ahsg	alpha 2-HS glycoprotein	gene	DOID:0080628	alopecia-mental retardation syndrome 1		ISO	RGD:736027	D	RGD:7240710	20190315	OMIM			
8817821	Ahsg	alpha 2-HS glycoprotein	gene	DOID:0080628	alopecia-mental retardation syndrome 1		ISO	RGD:736027	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AHSG-related condition | ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 1	PMID:17451405|PMID:25741868
8817821	Ahsg	alpha 2-HS glycoprotein	gene	DOID:11714	gestational diabetes		ISO	RGD:736027	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:12153747|REF_RGD_ID:2313814
8817821	Ahsg	alpha 2-HS glycoprotein	gene	DOID:182	calcinosis		ISO	RGD:736027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16177000
8817821	Ahsg	alpha 2-HS glycoprotein	gene	DOID:3021	acute kidney failure		ISO	RGD:736027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
8817821	Ahsg	alpha 2-HS glycoprotein	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:736027	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:SNPs	PMID:17062776|REF_RGD_ID:1625792
8817821	Ahsg	alpha 2-HS glycoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817821	Ahsg	alpha 2-HS glycoprotein	gene	DOID:5844	myocardial infarction		ISO	RGD:736027	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19029462|REF_RGD_ID:2313810
8817821	Ahsg	alpha 2-HS glycoprotein	gene	DOID:585	nephrolithiasis		ISO	RGD:736027	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Calcium oxalate urolithiasis	PMID:24886237
8817821	Ahsg	alpha 2-HS glycoprotein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8817821	Ahsg	alpha 2-HS glycoprotein	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:736027	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum	PMID:15698447|REF_RGD_ID:2313813
8817821	Ahsg	alpha 2-HS glycoprotein	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:736027	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19228823|REF_RGD_ID:2313809
8817821	Ahsg	alpha 2-HS glycoprotein	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:736027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
8817821	Ahsg	alpha 2-HS glycoprotein	gene	DOID:9007692	Insulin Resistance		ISO	RGD:736027	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16567827|REF_RGD_ID:1625794
8817821	Ahsg	alpha 2-HS glycoprotein	gene	DOID:9007692	Insulin Resistance	susceptibility	ISO	RGD:10128	D	RGD:9068941	20200609	RGD			PMID:17011519|REF_RGD_ID:1625793
8817821	Ahsg	alpha 2-HS glycoprotein	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736027	D	RGD:9068941	20200609	RGD			PMID:18633113|REF_RGD_ID:2313811
8817821	Ahsg	alpha 2-HS glycoprotein	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:736027	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :-469T>G (rs2077119) (human)	PMID:18316360|REF_RGD_ID:2313812
8817821	Ahsg	alpha 2-HS glycoprotein	gene	DOID:9970	obesity		ISO	RGD:736027	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19228823|REF_RGD_ID:2313809
8817821	Ahsg	alpha 2-HS glycoprotein	gene	DOID:9970	obesity	susceptibility	ISO	RGD:10128	D	RGD:9068941	20200609	RGD			PMID:17011519|REF_RGD_ID:1625793
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:0050562	West syndrome		ISO	RGD:731284	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16919904
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:0050857	Perrault syndrome		ISO	RGD:731284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Perrault syndrome	PMID:10400999|PMID:11810648|PMID:12562856|PMID:16199547|PMID:16385454|PMID:17576681|PMID:22864515|PMID:23181892|PMID:24033266|PMID:24108619|PMID:24553428|PMID:24602372|PMID:25741868|PMID:25882080|PMID:28492532|PMID:31230720|PMID:33510602|PMID:38909121|PMID:9536098
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:731284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:0080600	COVID-19		ISO	RGD:731284	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:0090031	D-bifunctional protein deficiency		ISO	RGD:731284	D	RGD:7240710	20180130	OMIM			
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:0090031	D-bifunctional protein deficiency		ISO	RGD:731284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: D-BIFUNCTIONAL PROTEIN DEFICIENCY | ClinVar Annotator: match by term: D-bifunctional protein deficiency | ClinVar Annotator: match by term: PBFE DEFICIENCY	PMID:10400999|PMID:10671535|PMID:10748062|PMID:11330053|PMID:11810648|PMID:12562856|PMID:16199547|PMID:16385454|PMID:17576681|PMID:20673864|PMID:20681997|PMID:2245968|PMID:22459681|PMID:22507161|PMID:22864515|PMID:23181892|PMID:23308274|PMID:24033266|PMID:24108619|PMID:24553428|PMID:24602372|PMID:25741868|PMID:25882080|PMID:25954003|PMID:25967389|PMID:26243799|PMID:26467025|PMID:26970254|PMID:27243974|PMID:27290639|PMID:27528516|PMID:27618451|PMID:27790638|PMID:28017249|PMID:28490743|PMID:28492532|PMID:28649525|PMID:28759667|PMID:28830375|PMID:28973083|PMID:30396834|PMID:30561787|PMID:31230720|PMID:31455392|PMID:32042923|PMID:32528852|PMID:32904102|PMID:33045774|PMID:33115767|PMID:33163565|PMID:33510602|PMID:34440436|PMID:34534157|PMID:34623748|PMID:34660840|PMID:34719423|PMID:34732400|PMID:34906502|PMID:36511274|PMID:36544340|PMID:36788231|PMID:37486637|PMID:37645600|PMID:38249302|PMID:38909121|PMID:39433808|PMID:9482850|PMID:9536098|PMID:9915948
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:0090031	D-bifunctional protein deficiency	severity	ISO	RGD:731284	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:16385454|REF_RGD_ID:10411884
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:10534	stomach cancer		ISO	RGD:731284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:10763	hypertension		ISO	RGD:621806	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:renal cortex (rat)	PMID:18430809|REF_RGD_ID:2292646
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:1115	sarcoma		ISO	RGD:731284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:1324	lung cancer		ISO	RGD:731284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:13366	Stiff-Person syndrome		ISO	RGD:731284	D	RGD:9068941	20200609	RGD			PMID:12225901|REF_RGD_ID:10411898
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:1909	melanoma		ISO	RGD:731284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:2394	ovarian cancer		ISO	RGD:731284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:3275	thymoma		ISO	RGD:731284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:4362	cervical cancer		ISO	RGD:731284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:630	genetic disease		ISO	RGD:731284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11810648|PMID:16385454|PMID:20673864|PMID:25741868|PMID:28492532|PMID:31230720|PMID:36939041
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:731284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:9003326	Perrault Syndrome 1		ISO	RGD:731284	D	RGD:7240710	20180130	OMIM			
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:9003326	Perrault Syndrome 1		ISO	RGD:731284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HSD17B4-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: PERRAULT SYNDROME 1 | ClinVar Annotator: match by term: Perrault syndrome 1	PMID:10400999|PMID:10419023|PMID:10497229|PMID:12562856|PMID:16385454|PMID:20673864|PMID:22864515|PMID:23181892|PMID:23332201|PMID:24033266|PMID:24553428|PMID:25741868|PMID:25882080|PMID:25967389|PMID:26970254|PMID:28492532|PMID:28649525|PMID:31230720|PMID:32747562|PMID:33510602|PMID:33539324|PMID:34906502|PMID:9482850|PMID:9915948
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:731284	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:905	Zellweger syndrome		ISO	RGD:731284	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10343282
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:906	peroxisomal disease		ISO	RGD:731284	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16385454|PMID:9345094
8817832	Hsd17b4	hydroxysteroid 17-beta dehydrogenase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute Myeloid Leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8817863	Unc5cl	unc-5 family C-terminal like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8817863	Unc5cl	unc-5 family C-terminal like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8817863	Unc5cl	unc-5 family C-terminal like	gene	DOID:2394	ovarian cancer		ISO	RGD:1342658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8817863	Unc5cl	unc-5 family C-terminal like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817863	Unc5cl	unc-5 family C-terminal like	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1342658	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8817863	Unc5cl	unc-5 family C-terminal like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8817863	Unc5cl	unc-5 family C-terminal like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342658	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8817877	Incenp	inner centromere protein	gene	DOID:10534	stomach cancer		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8817877	Incenp	inner centromere protein	gene	DOID:12712	nephronophthisis		ISO	RGD:1313235	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:26489029
8817877	Incenp	inner centromere protein	gene	DOID:1324	lung cancer		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8817877	Incenp	inner centromere protein	gene	DOID:1909	melanoma		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8817877	Incenp	inner centromere protein	gene	DOID:3070	high grade glioma		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8817877	Incenp	inner centromere protein	gene	DOID:3275	thymoma		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8817877	Incenp	inner centromere protein	gene	DOID:4362	cervical cancer		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8817877	Incenp	inner centromere protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8817877	Incenp	inner centromere protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817877	Incenp	inner centromere protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8817877	Incenp	inner centromere protein	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313235	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
8817877	Incenp	inner centromere protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8817877	Incenp	inner centromere protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8817877	Incenp	inner centromere protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8817914	Podnl1	podocan like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8817914	Podnl1	podocan like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8817914	Podnl1	podocan like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8817914	Podnl1	podocan like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:0110797	hereditary spastic paraplegia 45		ISO	RGD:1322721	D	RGD:7240710	20180130	OMIM			
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:0110797	hereditary spastic paraplegia 45		ISO	RGD:1322721	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 | ClinVar Annotator: match by term: Spastic paraplegia 45, autosomal recessive	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:24482476|PMID:25741868|PMID:28492532|PMID:29123918|PMID:31700678|PMID:32214227|PMID:32989326|PMID:9536098
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:10534	stomach cancer		ISO	RGD:1322721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:1059	intellectual disability		ISO	RGD:1322721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:24482476|PMID:25741868|PMID:28492532
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:1115	sarcoma		ISO	RGD:1322721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:1324	lung cancer		ISO	RGD:1322721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:1909	melanoma		ISO	RGD:1322721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1322721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:28492532
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:3275	thymoma		ISO	RGD:1322721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:4362	cervical cancer		ISO	RGD:1322721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:5041	esophageal cancer		ISO	RGD:1322721	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:630	genetic disease		ISO	RGD:1322721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:9002801	Recurrence		ISO	RGD:1322721	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23377183
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1322721	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:31557154
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8817936	Nt5c2	5'-nucleotidase, cytosolic II	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1322721	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23377183
8817976	Arhgap20	Rho GTPase activating protein 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8817976	Arhgap20	Rho GTPase activating protein 20	gene	DOID:10283	prostate cancer		ISO	RGD:1350363	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8817976	Arhgap20	Rho GTPase activating protein 20	gene	DOID:10283	prostate cancer		ISO	RGD:1350363	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8817976	Arhgap20	Rho GTPase activating protein 20	gene	DOID:10534	stomach cancer		ISO	RGD:1350363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8817976	Arhgap20	Rho GTPase activating protein 20	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8817976	Arhgap20	Rho GTPase activating protein 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8817976	Arhgap20	Rho GTPase activating protein 20	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8818011	Tgif1	TGFB induced factor homeobox 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818011	Tgif1	TGFB induced factor homeobox 1	gene	DOID:0110880	holoprosencephaly 4		ISO	RGD:1321463	D	RGD:7240710	20190315	OMIM			
8818011	Tgif1	TGFB induced factor homeobox 1	gene	DOID:0110880	holoprosencephaly 4		ISO	RGD:1321463	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HOLOPROSENCEPHALY 4 | ClinVar Annotator: match by term: Holoprosencephaly 4 | ClinVar Annotator: match by term: TGIF1-related condition | ClinVar Annotator: match by term: holoprosencephaly 4	PMID:10835638|PMID:11810641|PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:21940735|PMID:22125506|PMID:25741868|PMID:28492532|PMID:34440302
8818011	Tgif1	TGFB induced factor homeobox 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8818011	Tgif1	TGFB induced factor homeobox 1	gene	DOID:10754	otitis media		ISO	RGD:1321464	D	RGD:9068941	20220825	MouseDO		OMIM:166760	
8818011	Tgif1	TGFB induced factor homeobox 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8818011	Tgif1	TGFB induced factor homeobox 1	gene	DOID:4621	holoprosencephaly		ISO	RGD:1321463	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly	
8818011	Tgif1	TGFB induced factor homeobox 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321463	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8818011	Tgif1	TGFB induced factor homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818011	Tgif1	TGFB induced factor homeobox 1	gene	DOID:630	genetic disease		ISO	RGD:1321463	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8818011	Tgif1	TGFB induced factor homeobox 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8818011	Tgif1	TGFB induced factor homeobox 1	gene	DOID:767	muscular atrophy		ISO	RGD:1310517	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Hepatocellular; mRNA:increased expression:gastrocnemius muscle (rat)	PMID:14718385|REF_RGD_ID:1641826
8818011	Tgif1	TGFB induced factor homeobox 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1321463	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:29746904
8818011	Tgif1	TGFB induced factor homeobox 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1310517	D	RGD:9068941	20200609	RGD		protein:decreased expression:glomerulus (rat)	PMID:15153551|REF_RGD_ID:1599409
8818011	Tgif1	TGFB induced factor homeobox 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1321463	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25791921
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10614985
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:0060903	thrombosis		ISO	RGD:737386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16514058
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:10247	pleurisy		ISO	RGD:10232	D	RGD:9068941	20200609	RGD			PMID:15316088|REF_RGD_ID:4891029
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:10247	pleurisy		ISO	RGD:2201	D	RGD:9068941	20200609	RGD			PMID:9208140|REF_RGD_ID:4891041
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:10762	portal hypertension		ISO	RGD:2201	D	RGD:9068941	20200609	RGD			PMID:19950773|REF_RGD_ID:4891055
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:10763	hypertension		ISO	RGD:2201	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hypothalamus	PMID:12025958|REF_RGD_ID:704378
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:10763	hypertension		ISO	RGD:2201	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:11934804|REF_RGD_ID:4890455
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:10763	hypertension		ISO	RGD:737386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10614985
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:10763	hypertension		ISO	RGD:737386	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-58T>C (human)	PMID:10904024|REF_RGD_ID:4891034
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:1115	sarcoma		ISO	RGD:737386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:11446	sciatic neuropathy		ISO	RGD:2201	D	RGD:9068941	20200609	RGD			PMID:18182225|REF_RGD_ID:5129227
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:1324	lung cancer		ISO	RGD:737386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:1826	epilepsy		ISO	RGD:2201	D	RGD:9068941	20200609	RGD			PMID:12746865|REF_RGD_ID:704381
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:2841	asthma		ISO	RGD:2201	D	RGD:9068941	20200609	RGD			PMID:14727005|REF_RGD_ID:4890454
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:2841	asthma		ISO	RGD:737386	D	RGD:9068941	20200609	RGD			PMID:8856156|REF_RGD_ID:4891042
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:2841	asthma		ISO	RGD:737386	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, eosinophil	PMID:19038786|REF_RGD_ID:4891028
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:2841	asthma	onset	ISO	RGD:737386	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon (human)	PMID:11517947|REF_RGD_ID:4890456
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:3021	acute kidney failure		ISO	RGD:737386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24975837
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:3070	high grade glioma		ISO	RGD:2201	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:20080302|REF_RGD_ID:4891047
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:737386	D	RGD:9068941	20200609	RGD			PMID:16600946|REF_RGD_ID:4890451
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:737386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15196965
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:4404	occupational dermatitis		ISO	RGD:737386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30685357
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:4483	rhinitis		ISO	RGD:737386	D	RGD:9068941	20200609	RGD			PMID:11149999|PMID:1890650|REF_RGD_ID:4891033|REF_RGD_ID:4891044
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:4989	pancreatitis		ISO	RGD:2201	D	RGD:9068941	20200609	RGD			PMID:7791078|REF_RGD_ID:4891025
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:552	pneumonia		ISO	RGD:10232	D	RGD:9068941	20200609	RGD			PMID:15021973|REF_RGD_ID:4891030
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:5844	myocardial infarction		ISO	RGD:2201	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:12489796|REF_RGD_ID:704379
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:2201	D	RGD:9068941	20200609	RGD			PMID:15878794|REF_RGD_ID:4890453
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:737386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12833524
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:850	lung disease		ISO	RGD:2201	D	RGD:9068941	20200609	RGD		Lung Injury associated with Endotoxemia	PMID:10702448|REF_RGD_ID:4890457
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9000352	Vascular System Injuries		ISO	RGD:737386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16982965
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9000641	Pain		ISO	RGD:737386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20152050
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9001371	Eosinophilia		ISO	RGD:10232	D	RGD:9068941	20200609	RGD			PMID:10385260|REF_RGD_ID:4891039
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9002165	Diabetic Nephropathies	susceptibility	ISO	RGD:10232	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:17596525|REF_RGD_ID:2313335
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2201	D	RGD:9068941	20200609	RGD			PMID:10188975|REF_RGD_ID:4891040
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2201	D	RGD:9068941	20200609	RGD		associated with Diabetic Neuropathy	PMID:19300402|REF_RGD_ID:2313332
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:737386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17989505|PMID:19300402|PMID:19815945
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9002661	Diabetes Complications		ISO	RGD:10232	D	RGD:9068941	20200609	RGD			PMID:20479236|REF_RGD_ID:7241550
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:2201	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:12489796|REF_RGD_ID:704379
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9005372	Inflammation		ISO	RGD:10232	D	RGD:9068941	20200609	RGD		associated with Asthma	PMID:15021973|REF_RGD_ID:4891030
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9005372	Inflammation		ISO	RGD:2201	D	RGD:9068941	20200609	RGD			PMID:7791078|REF_RGD_ID:4891025
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9005372	Inflammation		ISO	RGD:737386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20152050
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2201	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:12489796|REF_RGD_ID:704379
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2201	D	RGD:9068941	20200609	RGD		protein:increased expression:hindbrain, spinal cord	PMID:16138314|REF_RGD_ID:4890452
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9006024	Hypotension		ISO	RGD:737386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1334354|PMID:16321614
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9006024	Hypotension		ISO	RGD:737386	D	RGD:9068941	20200609	RGD			PMID:9039147|REF_RGD_ID:4891024
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9006205	Animal Disease Models		ISO	RGD:737386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30685357
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9007073	Cough		ISO	RGD:737386	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-58T>C (human)	PMID:10904024|REF_RGD_ID:4891034
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9007073	Cough		ISO	RGD:737386	D	RGD:9068941	20200609	RGD		DNA:SNPs (human)	PMID:12522467|REF_RGD_ID:4891031
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9007073	Cough	no_association	ISO	RGD:737386	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-58T>C (human)	PMID:11699055|REF_RGD_ID:4891032
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9007073	Cough	no_association	ISO	RGD:737386	D	RGD:9068941	20200609	RGD		DNA:SNPs (human)	PMID:19744011|REF_RGD_ID:4891027
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9007073	Cough	treatment	ISO	RGD:737386	D	RGD:9068941	20260514	RGD		associated with essential hypertension;DNA:SNP: :rs8012552	PMID:21052031|REF_RGD_ID:4891026
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:737386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30685357
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9008217	Hemorrhage		ISO	RGD:737386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16514058
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9008511	Extravasation of Diagnostic and Therapeutic Materials		ISO	RGD:737386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9622145
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9008887	Microvascular Angina		ISO	RGD:737386	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood, mononuclear cell	PMID:17852785|REF_RGD_ID:4890450
8818045	Bdkrb2	bradykinin receptor B2	gene	DOID:9009039	Hyperemia		ISO	RGD:737386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11837250
8818068	Hipk1	homeodomain interacting protein kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818068	Hipk1	homeodomain interacting protein kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1312671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8818068	Hipk1	homeodomain interacting protein kinase 1	gene	DOID:3021	acute kidney failure		ISO	RGD:1312671	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:36052886
8818068	Hipk1	homeodomain interacting protein kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1312671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8818068	Hipk1	homeodomain interacting protein kinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8818068	Hipk1	homeodomain interacting protein kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818068	Hipk1	homeodomain interacting protein kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8818068	Hipk1	homeodomain interacting protein kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818068	Hipk1	homeodomain interacting protein kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8818068	Hipk1	homeodomain interacting protein kinase 1	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1312671	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
8818133	Kdm1b	lysine demethylase 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8818133	Kdm1b	lysine demethylase 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818133	Kdm1b	lysine demethylase 1B	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1321760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
8818133	Kdm1b	lysine demethylase 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8818133	Kdm1b	lysine demethylase 1B	gene	DOID:1324	lung cancer		ISO	RGD:1321760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8818133	Kdm1b	lysine demethylase 1B	gene	DOID:1909	melanoma		ISO	RGD:1321760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8818133	Kdm1b	lysine demethylase 1B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8818133	Kdm1b	lysine demethylase 1B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8818133	Kdm1b	lysine demethylase 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1321760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8818133	Kdm1b	lysine demethylase 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1321760	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8818133	Kdm1b	lysine demethylase 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818133	Kdm1b	lysine demethylase 1B	gene	DOID:768	retinoblastoma		ISO	RGD:1321760	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina (human)	PMID:16180235|REF_RGD_ID:9588276
8818133	Kdm1b	lysine demethylase 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818161	Atg16l2	autophagy related 16 like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8818161	Atg16l2	autophagy related 16 like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818161	Atg16l2	autophagy related 16 like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606757	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8818161	Atg16l2	autophagy related 16 like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8818161	Atg16l2	autophagy related 16 like 2	gene	DOID:1324	lung cancer		ISO	RGD:1606757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8818161	Atg16l2	autophagy related 16 like 2	gene	DOID:1909	melanoma		ISO	RGD:1606757	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
8818161	Atg16l2	autophagy related 16 like 2	gene	DOID:3275	thymoma		ISO	RGD:1606757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8818161	Atg16l2	autophagy related 16 like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8818161	Atg16l2	autophagy related 16 like 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606757	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8818161	Atg16l2	autophagy related 16 like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606757	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8818161	Atg16l2	autophagy related 16 like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818161	Atg16l2	autophagy related 16 like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8818161	Atg16l2	autophagy related 16 like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818161	Atg16l2	autophagy related 16 like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL	
8818183	Tmsb15a	thymosin beta 15A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8818183	Tmsb15a	thymosin beta 15A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818191	LOC102019604	7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase	gene	DOID:13580	cholestasis		ISO	RGD:736649	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22461449
8818191	LOC102019604	7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase	gene	DOID:13619	extrahepatic cholestasis	treatment	ISO	RGD:71016	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:29360226|REF_RGD_ID:14995480
8818191	LOC102019604	7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736649	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25448281
8818196	Nelfcd	negative elongation factor complex member C/D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818196	Nelfcd	negative elongation factor complex member C/D	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1346942	D	RGD:9068941	20200609	RGD			PMID:19945309|REF_RGD_ID:9693724
8818196	Nelfcd	negative elongation factor complex member C/D	gene	DOID:10534	stomach cancer		ISO	RGD:1346942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8818196	Nelfcd	negative elongation factor complex member C/D	gene	DOID:1324	lung cancer		ISO	RGD:1346942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8818196	Nelfcd	negative elongation factor complex member C/D	gene	DOID:1909	melanoma		ISO	RGD:1346942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8818196	Nelfcd	negative elongation factor complex member C/D	gene	DOID:219	colon cancer		ISO	RGD:1346942	D	RGD:9068941	20251030	RGD		mRNA,protein:increased expression:colon	PMID:40302325|REF_RGD_ID:629006500
8818196	Nelfcd	negative elongation factor complex member C/D	gene	DOID:4362	cervical cancer		ISO	RGD:1346942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8818196	Nelfcd	negative elongation factor complex member C/D	gene	DOID:5041	esophageal cancer		ISO	RGD:1346942	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8818196	Nelfcd	negative elongation factor complex member C/D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818196	Nelfcd	negative elongation factor complex member C/D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8818196	Nelfcd	negative elongation factor complex member C/D	gene	DOID:9256	colorectal cancer		ISO	RGD:1346942	D	RGD:9068941	20251030	RGD			PMID:38809918|REF_RGD_ID:629006501
8818216	Plppr2	phospholipid phosphatase related 2	gene	DOID:1324	lung cancer		ISO	RGD:1604322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8818216	Plppr2	phospholipid phosphatase related 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8818216	Plppr2	phospholipid phosphatase related 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604322	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8818216	Plppr2	phospholipid phosphatase related 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818242	Uvrag	UV radiation resistance associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818242	Uvrag	UV radiation resistance associated	gene	DOID:10283	prostate cancer		ISO	RGD:1317170	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
8818242	Uvrag	UV radiation resistance associated	gene	DOID:10534	stomach cancer		ISO	RGD:1317170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8818242	Uvrag	UV radiation resistance associated	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8818242	Uvrag	UV radiation resistance associated	gene	DOID:1115	sarcoma		ISO	RGD:1317170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8818242	Uvrag	UV radiation resistance associated	gene	DOID:1909	melanoma		ISO	RGD:1317170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8818242	Uvrag	UV radiation resistance associated	gene	DOID:4362	cervical cancer		ISO	RGD:1317170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8818242	Uvrag	UV radiation resistance associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818242	Uvrag	UV radiation resistance associated	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8818242	Uvrag	UV radiation resistance associated	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818242	Uvrag	UV radiation resistance associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8818242	Uvrag	UV radiation resistance associated	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:0060135	apraxia		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apraxia	
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1314942	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:1059	intellectual disability		ISO	RGD:1314942	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:1059	intellectual disability		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:27108999|PMID:28492532
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:1143	exotropia		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:28492532
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:12849	autistic disorder		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:28492532
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:1909	melanoma		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:3070	high grade glioma		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314942	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1314942	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:630	genetic disease		ISO	RGD:1314942	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26138117|PMID:26153217|PMID:27108999|PMID:28492532|PMID:33057194|PMID:33526774|PMID:35982159
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:9000271	Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation		ISO	RGD:1314942	D	RGD:7240710	20190315	OMIM			
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:9000271	Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation		ISO	RGD:1314942	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HERC1-related disorder | ClinVar Annotator: match by term: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION | ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation	PMID:25741868|PMID:26138117|PMID:26153217|PMID:27108999|PMID:28492532|PMID:32921582|PMID:33526774|PMID:6138117
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314942	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	PMID:26801221
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature | ClinVar Annotator: match by term: Short stature	PMID:28492532
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8818266	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:0050117	disease by infectious agent		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:0050453	lissencephaly		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pachygyria	PMID:25741868|PMID:31923470|PMID:40931319
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:0060249	scoliosis		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:734453	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures	PMID:25741868|PMID:31923470|PMID:40931319
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:0111274	CODAS syndrome		ISO	RGD:734453	D	RGD:7240710	20180130	OMIM			
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:0111274	CODAS syndrome		ISO	RGD:734453	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CODAS SYNDROME | ClinVar Annotator: match by term: CODAS syndrome | ClinVar Annotator: match by term: LONP1-related condition	PMID:17576681|PMID:25574826|PMID:25741868|PMID:25741869|PMID:25808063|PMID:26034137|PMID:27878435|PMID:28148925|PMID:28492532|PMID:29408517|PMID:30304514|PMID:31636596|PMID:31923470|PMID:34547244|PMID:36305856|PMID:36685982|PMID:38927725|PMID:5574826|PMID:9536098
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:25741868
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:1059	intellectual disability		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:10907	microcephaly		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:31923470|PMID:40931319
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:11830	myopia		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:11836	clubfoot		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	PMID:25741868|PMID:28492532
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:1324	lung cancer		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:13774	Addison's disease		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary adrenal insufficiency	PMID:25741868|PMID:31923470|PMID:40931319
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:1682	congenital heart disease		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868|PMID:28492532
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:1826	epilepsy		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:31923470|PMID:40931319
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868|PMID:28492532
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:2316	brain ischemia		ISO	RGD:621598	D	RGD:9068941	20200609	RGD			PMID:12082077|REF_RGD_ID:633879
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:326	ischemia		ISO	RGD:621598	D	RGD:9068941	20200609	RGD			PMID:12082077|REF_RGD_ID:633879
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:3275	thymoma		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:3650	lactic acidosis		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868|PMID:27878435|PMID:28492532|PMID:29408517
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:543	dystonia		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:31923470|PMID:40931319
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:6000	congestive heart failure		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congestive heart failure	PMID:25741868
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:734453	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:5574826
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:9007661	Dwarfism		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature	PMID:25741868|PMID:28492532
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:31923470|PMID:40931319
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8818367	Lonp1	lon peptidase 1, mitochondrial	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
8818400	CUNH1orf146	chromosome unknown C1orf146 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1603476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8818400	CUNH1orf146	chromosome unknown C1orf146 homolog	gene	DOID:12336	male infertility		ISO	RGD:1603476	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Male infertility	PMID:25741868
8818400	CUNH1orf146	chromosome unknown C1orf146 homolog	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8818400	CUNH1orf146	chromosome unknown C1orf146 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818400	CUNH1orf146	chromosome unknown C1orf146 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818417	Safb2	scaffold attachment factor B2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8818417	Safb2	scaffold attachment factor B2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818417	Safb2	scaffold attachment factor B2	gene	DOID:10283	prostate cancer		ISO	RGD:1342747	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8818417	Safb2	scaffold attachment factor B2	gene	DOID:10283	prostate cancer		ISO	RGD:1342747	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8818417	Safb2	scaffold attachment factor B2	gene	DOID:10534	stomach cancer		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8818417	Safb2	scaffold attachment factor B2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8818417	Safb2	scaffold attachment factor B2	gene	DOID:1115	sarcoma		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8818417	Safb2	scaffold attachment factor B2	gene	DOID:1324	lung cancer		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8818417	Safb2	scaffold attachment factor B2	gene	DOID:1909	melanoma		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8818417	Safb2	scaffold attachment factor B2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8818417	Safb2	scaffold attachment factor B2	gene	DOID:3275	thymoma		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8818417	Safb2	scaffold attachment factor B2	gene	DOID:4362	cervical cancer		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8818417	Safb2	scaffold attachment factor B2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8818417	Safb2	scaffold attachment factor B2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8818417	Safb2	scaffold attachment factor B2	gene	DOID:5041	esophageal cancer		ISO	RGD:1342747	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8818417	Safb2	scaffold attachment factor B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818417	Safb2	scaffold attachment factor B2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8818417	Safb2	scaffold attachment factor B2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818417	Safb2	scaffold attachment factor B2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8818417	Safb2	scaffold attachment factor B2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8818450	Mfap2	microfibril associated protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8818450	Mfap2	microfibril associated protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818450	Mfap2	microfibril associated protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1314413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8818450	Mfap2	microfibril associated protein 2	gene	DOID:1909	melanoma		ISO	RGD:1314413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8818450	Mfap2	microfibril associated protein 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1314413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8818450	Mfap2	microfibril associated protein 2	gene	DOID:5119	ovarian cyst		ISO	RGD:1314413	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
8818450	Mfap2	microfibril associated protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818450	Mfap2	microfibril associated protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8818471	Atp10b	ATPase phospholipid transporting 10B (putative)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8818471	Atp10b	ATPase phospholipid transporting 10B (putative)	gene	DOID:10534	stomach cancer		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8818471	Atp10b	ATPase phospholipid transporting 10B (putative)	gene	DOID:1059	intellectual disability		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8818471	Atp10b	ATPase phospholipid transporting 10B (putative)	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
8818471	Atp10b	ATPase phospholipid transporting 10B (putative)	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8818471	Atp10b	ATPase phospholipid transporting 10B (putative)	gene	DOID:1115	sarcoma		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8818471	Atp10b	ATPase phospholipid transporting 10B (putative)	gene	DOID:1324	lung cancer		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8818471	Atp10b	ATPase phospholipid transporting 10B (putative)	gene	DOID:1826	epilepsy		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8818471	Atp10b	ATPase phospholipid transporting 10B (putative)	gene	DOID:1909	melanoma		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8818471	Atp10b	ATPase phospholipid transporting 10B (putative)	gene	DOID:3070	high grade glioma		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8818471	Atp10b	ATPase phospholipid transporting 10B (putative)	gene	DOID:4362	cervical cancer		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8818471	Atp10b	ATPase phospholipid transporting 10B (putative)	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8818471	Atp10b	ATPase phospholipid transporting 10B (putative)	gene	DOID:5041	esophageal cancer		ISO	RGD:1345428	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8818471	Atp10b	ATPase phospholipid transporting 10B (putative)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818471	Atp10b	ATPase phospholipid transporting 10B (putative)	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8818471	Atp10b	ATPase phospholipid transporting 10B (putative)	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
8818471	Atp10b	ATPase phospholipid transporting 10B (putative)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818471	Atp10b	ATPase phospholipid transporting 10B (putative)	gene	DOID:9970	obesity		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
8818519	Tlr10	toll like receptor 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818519	Tlr10	toll like receptor 10	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1323096	D	RGD:9068941	20200609	RGD		DNA:SNP (human)	PMID:18547625|REF_RGD_ID:4889528
8818519	Tlr10	toll like receptor 10	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1323096	D	RGD:9068941	20260115	RGD		DNA:SNP:exon:rs4129009	PMID:37051380|REF_RGD_ID:630350413
8818519	Tlr10	toll like receptor 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818519	Tlr10	toll like receptor 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8818532	Tgfb1i1	transforming growth factor beta 1 induced transcript 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818532	Tgfb1i1	transforming growth factor beta 1 induced transcript 1	gene	DOID:1115	sarcoma		ISO	RGD:732522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8818532	Tgfb1i1	transforming growth factor beta 1 induced transcript 1	gene	DOID:4362	cervical cancer		ISO	RGD:732522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8818532	Tgfb1i1	transforming growth factor beta 1 induced transcript 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818532	Tgfb1i1	transforming growth factor beta 1 induced transcript 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818532	Tgfb1i1	transforming growth factor beta 1 induced transcript 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8818554	Limd1	LIM domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8818554	Limd1	LIM domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1320381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8818554	Limd1	LIM domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1320381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8818554	Limd1	LIM domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1320381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8818554	Limd1	LIM domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320381	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8818554	Limd1	LIM domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818554	Limd1	LIM domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818567	Scml4	Scm polycomb group protein like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818567	Scml4	Scm polycomb group protein like 4	gene	DOID:0060058	lymphoma		ISO	RGD:1322066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8818567	Scml4	Scm polycomb group protein like 4	gene	DOID:10534	stomach cancer		ISO	RGD:1322066	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8818567	Scml4	Scm polycomb group protein like 4	gene	DOID:1115	sarcoma		ISO	RGD:1322066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8818567	Scml4	Scm polycomb group protein like 4	gene	DOID:1909	melanoma		ISO	RGD:1322066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8818567	Scml4	Scm polycomb group protein like 4	gene	DOID:3275	thymoma		ISO	RGD:1322066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8818567	Scml4	Scm polycomb group protein like 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1322066	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8818567	Scml4	Scm polycomb group protein like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818567	Scml4	Scm polycomb group protein like 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8818567	Scml4	Scm polycomb group protein like 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8818567	Scml4	Scm polycomb group protein like 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8818567	Scml4	Scm polycomb group protein like 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:0040084	Streptococcus pneumonia	severity	ISO	RGD:1318854	D	RGD:9068941	20200709	RGD			PMID:22492852|REF_RGD_ID:35316076
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1318853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:11476	osteoporosis		ISO	RGD:1318854	D	RGD:9068941	20220825	MouseDO		OMIM:166710	
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:13272	Klebsiella pneumonia		ISO	RGD:1318854	D	RGD:9068941	20200723	RGD		mRNA:increased expression:lung (mouse)	PMID:20864681|REF_RGD_ID:36049798
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:13272	Klebsiella pneumonia	severity	ISO	RGD:1318854	D	RGD:9068941	20200709	RGD			PMID:22729155|REF_RGD_ID:35316077
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1318853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:2841	asthma		ISO	RGD:1318853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 5 | ClinVar Annotator: match by term: IRAK3-related condition	PMID:25741868|PMID:28492532
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1318853	D	RGD:7240710	20190502	OMIM			
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1318853	D	RGD:9068941	20200723	RGD		mRNA:increased expression:lung (human)	PMID:21278795|REF_RGD_ID:36049796
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:399	tuberculosis		ISO	RGD:1318853	D	RGD:9068941	20200723	RGD		mRNA, protein:increased expression:sputum (human)	PMID:19535630|REF_RGD_ID:36049800
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1318853	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:5052	melioidosis		ISO	RGD:1318853	D	RGD:9068941	20200723	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:19114913|REF_RGD_ID:36049801
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:874	bacterial pneumonia		ISO	RGD:1318854	D	RGD:9068941	20200723	RGD			PMID:20439918|PMID:28120642|REF_RGD_ID:34888234|REF_RGD_ID:36049799
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:9000109	Haemophilus Infections	severity	ISO	RGD:1318854	D	RGD:9068941	20200709	RGD			PMID:25585690|REF_RGD_ID:11527046
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:9000684	Porcine Reproductive and Respiratory Syndrome		ISO	RGD:14200541	D	RGD:9068941	20200723	RGD		mRNA:increased expression:peripheral blood mononuclear cell (pig)	PMID:26022073|REF_RGD_ID:36049793
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:9002786	Surgical Wound Infection		ISO	RGD:1318853	D	RGD:9068941	20200709	RGD		associated with colorectal cancer; mRNA:increased expression: plasma, leukocyte (human)	PMID:28214365|REF_RGD_ID:34888232
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:9002827	Porcine Postweaning Multisystemic Wasting Syndrome		ISO	RGD:14200541	D	RGD:9068941	20200723	RGD		associated with Porcine Reproductive and Respiratory Syndrome; mRNA:decreased expression:peripheral blood mononuclear cell (pig)	PMID:26022073|REF_RGD_ID:36049793
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:9002953	Escherichia Coli Infections	treatment	ISO	RGD:14200541	D	RGD:9068941	20200723	RGD			PMID:27832756|REF_RGD_ID:34888235
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:9003690	Carcinoma, Lewis Lung		ISO	RGD:1318853	D	RGD:9068941	20200723	RGD			PMID:21278795|REF_RGD_ID:36049796
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1318853	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25780291
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1318854	D	RGD:9068941	20200723	RGD		mRNA, protein:increased expression:lung (mouse)	PMID:21577093|REF_RGD_ID:36049795
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:9005930	Endotoxemia		ISO	RGD:1318853	D	RGD:9068941	20200723	RGD		mRNA, protein:increased expression:blood (human)	PMID:17982103|REF_RGD_ID:36049802
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:9006493	Glandular and Epithelial Neoplasms		ISO	RGD:1318854	D	RGD:9068941	20200709	RGD		associated with ulcerative colitis;mRNA, protein:decreased expression:colon (mouse)	PMID:28713897|REF_RGD_ID:34888231
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:9007417	Pseudomonas Infections	severity	ISO	RGD:1318854	D	RGD:9068941	20200723	RGD		associated with Sepsis	PMID:16917541|REF_RGD_ID:36049803
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:9008885	Staphylococcal Infections	treatment	ISO	RGD:1318854	D	RGD:9068941	20200709	RGD			PMID:28954388|REF_RGD_ID:34888230
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8818579	Irak3	interleukin 1 receptor associated kinase 3	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1318854	D	RGD:9068941	20220825	MouseDO		OMIM:222100	
8818596	Pln	phospholamban	gene	DOID:0050700	cardiomyopathy		ISO	RGD:10055935	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:12639993|PMID:17655857|PMID:21167350|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:35470680|PMID:35653365
8818596	Pln	phospholamban	gene	DOID:0050700	cardiomyopathy		ISO	RGD:11089566|RGD:14688510	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532|PMID:30242101
8818596	Pln	phospholamban	gene	DOID:0050700	cardiomyopathy		ISO	RGD:13821185	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:23396983|PMID:25741868|PMID:26688388|PMID:28492532|PMID:28790153|PMID:31705731|PMID:31737537
8818596	Pln	phospholamban	gene	DOID:0050700	cardiomyopathy		ISO	RGD:8599473	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:12639993|PMID:16235537|PMID:16432188|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:22820313|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:28600387
8818596	Pln	phospholamban	gene	DOID:0050700	cardiomyopathy		ISO	RGD:8599473	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:28600387
8818596	Pln	phospholamban	gene	DOID:0051064	left ventricular failure		ISO	RGD:1349244	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14991071
8818596	Pln	phospholamban	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1349244	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
8818596	Pln	phospholamban	gene	DOID:0110324	hypertrophic cardiomyopathy 18		ISO	RGD:1349244	D	RGD:7240710	20180130	OMIM			
8818596	Pln	phospholamban	gene	DOID:0110439	dilated cardiomyopathy 1P		ISO	RGD:1349244	D	RGD:7240710	20180130	OMIM			
8818596	Pln	phospholamban	gene	DOID:0110439	dilated cardiomyopathy 1P		ISO	RGD:1349244	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1P	PMID:25741868|PMID:28492532
8818596	Pln	phospholamban	gene	DOID:114	heart disease	treatment	ISO	RGD:619894	D	RGD:9068941	20200609	RGD		associated with Metabolic Syndrome X	PMID:23458196|REF_RGD_ID:7327178
8818596	Pln	phospholamban	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1349244	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:12610310|PMID:12639993|PMID:16235537|PMID:16897780|PMID:17655857|PMID:18056057|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25593317|PMID:25611685|PMID:25691538|PMID:25741868|PMID:25852082|PMID:25928149|PMID:26535225|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:30012515|PMID:30012837|PMID:30847666
8818596	Pln	phospholamban	gene	DOID:14717	centronuclear myopathy		ISO	RGD:732405	D	RGD:9068941	20240425	MouseDO			
8818596	Pln	phospholamban	gene	DOID:5844	myocardial infarction		ISO	RGD:1349244	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16026515|PMID:16162791
8818596	Pln	phospholamban	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:619894	D	RGD:9068941	20200609	RGD			PMID:23781262|REF_RGD_ID:7327176
8818596	Pln	phospholamban	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:619894	D	RGD:9068941	20231221	RGD		protein:decreased expression:heart left ventricle (rat)	PMID:26067684|REF_RGD_ID:11097969
8818596	Pln	phospholamban	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:619894	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:22970977|REF_RGD_ID:7327181
8818596	Pln	phospholamban	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:619894	D	RGD:9068941	20200609	RGD		associated with Myocardial Infarction	PMID:22947202|REF_RGD_ID:7327182
8818596	Pln	phospholamban	gene	DOID:9000564	Prehypertension		ISO	RGD:619894	D	RGD:9068941	20200609	RGD		protein:decreased expression, decreased serine phosphorylation:superior cervical ganglion	PMID:22252398|REF_RGD_ID:7327185
8818596	Pln	phospholamban	gene	DOID:9002661	Diabetes Complications		ISO	RGD:619894	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA:increased expression:diaphragm	PMID:23443767|REF_RGD_ID:7327179
8818596	Pln	phospholamban	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:619894	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle	PMID:22185592|REF_RGD_ID:7327207
8818596	Pln	phospholamban	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1349244	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10734148
8818596	Pln	phospholamban	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:619894	D	RGD:9068941	20200609	RGD			PMID:21934351|REF_RGD_ID:7327186
8818596	Pln	phospholamban	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:619894	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:heart left ventricle	PMID:22621761|REF_RGD_ID:7327183
8818596	Pln	phospholamban	gene	DOID:9767	myocardial stunning		ISO	RGD:1349244	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16317512
8818602	Paqr9	progestin and adipoQ receptor family member 9	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323015	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8818651	Prrg2	proline rich and Gla domain 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8818651	Prrg2	proline rich and Gla domain 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818651	Prrg2	proline rich and Gla domain 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8818651	Prrg2	proline rich and Gla domain 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313475	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8818651	Prrg2	proline rich and Gla domain 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8818651	Prrg2	proline rich and Gla domain 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8818651	Prrg2	proline rich and Gla domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818651	Prrg2	proline rich and Gla domain 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8818651	Prrg2	proline rich and Gla domain 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8818667	Tulp4	TUB like protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8818667	Tulp4	TUB like protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818667	Tulp4	TUB like protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8818667	Tulp4	TUB like protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8818667	Tulp4	TUB like protein 4	gene	DOID:1909	melanoma		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8818667	Tulp4	TUB like protein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8818667	Tulp4	TUB like protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8818667	Tulp4	TUB like protein 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8818667	Tulp4	TUB like protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1350994	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8818667	Tulp4	TUB like protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818667	Tulp4	TUB like protein 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8818667	Tulp4	TUB like protein 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8818667	Tulp4	TUB like protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818667	Tulp4	TUB like protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8818667	Tulp4	TUB like protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8818691	Slc16a3	solute carrier family 16 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818691	Slc16a3	solute carrier family 16 member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8818691	Slc16a3	solute carrier family 16 member 3	gene	DOID:1324	lung cancer		ISO	RGD:731750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8818691	Slc16a3	solute carrier family 16 member 3	gene	DOID:1909	melanoma		ISO	RGD:731750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8818691	Slc16a3	solute carrier family 16 member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8818691	Slc16a3	solute carrier family 16 member 3	gene	DOID:4362	cervical cancer		ISO	RGD:731750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8818691	Slc16a3	solute carrier family 16 member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8818691	Slc16a3	solute carrier family 16 member 3	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:731750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27224918
8818691	Slc16a3	solute carrier family 16 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818691	Slc16a3	solute carrier family 16 member 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:731750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22313602
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1348095	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar Annotator: match by term: NADH:Q(1) OXIDOREDUCTASE DEFICIENCY	PMID:21057504|PMID:22200994|PMID:22277967|PMID:25721401|PMID:25741868|PMID:26669660|PMID:28492532|PMID:29142257|PMID:30025539
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:0112072	nuclear type mitochondrial complex I deficiency 20		ISO	RGD:1348095	D	RGD:7240710	20180130	OMIM			
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:0112072	nuclear type mitochondrial complex I deficiency 20		ISO	RGD:1348095	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: ACAD9 deficiency | ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 | ClinVar Annotator: match by term: acyl-CoA dehydrogenase 9 deficiency	PMID:16199547|PMID:17576681|PMID:20816094|PMID:20929961|PMID:2105750|PMID:21057504|PMID:22200994|PMID:22277967|PMID:23836383|PMID:23996478|PMID:25326637|PMID:25721401|PMID:25741868|PMID:26467025|PMID:26475292|PMID:26669660|PMID:26826406|PMID:27233227|PMID:27290639|PMID:27438479|PMID:28279569|PMID:28492532|PMID:28529009|PMID:28585276|PMID:29142257|PMID:30025539|PMID:30831263|PMID:31527676|PMID:31658717|PMID:31665838|PMID:32313153|PMID:32746448|PMID:33027564|PMID:33587123|PMID:34023438|PMID:34440436|PMID:37240454|PMID:37291213|PMID:37432431|PMID:38703036|PMID:39417332|PMID:9536098
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:10534	stomach cancer		ISO	RGD:1348095	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532|PMID:30831263
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:1115	sarcoma		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1348095	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy	PMID:25741868|PMID:28492532
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:1909	melanoma		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348095	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532|PMID:30831263
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:3275	thymoma		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:423	myopathy		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:28492532
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:4362	cervical cancer		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348095	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532|PMID:30831263
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1348095	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348095	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532|PMID:30831263
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:630	genetic disease		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21057504|PMID:25741868|PMID:28492532
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:9003717	nonischemic cardiomyopathy		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-Ischemic Cardiomyopathy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818709	Acad9	acyl-CoA dehydrogenase family member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8818755	Six4	SIX homeobox 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818755	Six4	SIX homeobox 4	gene	DOID:1324	lung cancer		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8818755	Six4	SIX homeobox 4	gene	DOID:1909	melanoma		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8818755	Six4	SIX homeobox 4	gene	DOID:4362	cervical cancer		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8818755	Six4	SIX homeobox 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1315508	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8818755	Six4	SIX homeobox 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8818755	Six4	SIX homeobox 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8818755	Six4	SIX homeobox 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818755	Six4	SIX homeobox 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8818755	Six4	SIX homeobox 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8818778	Klhl8	kelch like family member 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8818778	Klhl8	kelch like family member 8	gene	DOID:0060674	catecholaminergic polymorphic ventricular tachycardia		ISO	RGD:1312275	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia	
8818778	Klhl8	kelch like family member 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8818778	Klhl8	kelch like family member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818778	Klhl8	kelch like family member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818778	Klhl8	kelch like family member 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8818796	Znf697	zinc finger protein 697	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818796	Znf697	zinc finger protein 697	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818796	Znf697	zinc finger protein 697	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1603938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:0050127	sinusitis		ISO	RGD:732847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sinusitis	PMID:12473862|PMID:17634077|PMID:21956615|PMID:24882431|PMID:25741868|PMID:26537344|PMID:28492532|PMID:29229744|PMID:31655555
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:0050477	Liddle syndrome		ISO	RGD:732847	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation:exon:p.W574X (human)	PMID:7550319|REF_RGD_ID:737754
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:10391210|PMID:17460608|PMID:18507830|PMID:22995991|PMID:24033266|PMID:25741868|PMID:25900089|PMID:26467025|PMID:27884173|PMID:28492532|PMID:31328266
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:732847	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:0060854	autosomal recessive pseudohypoaldosteronism type 1		ISO	RGD:732847	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive	PMID:10391210|PMID:11231969|PMID:12473862|PMID:15198480|PMID:17460608|PMID:17634077|PMID:18424465|PMID:18507830|PMID:19462466|PMID:21956615|PMID:22995991|PMID:23149595|PMID:24033266|PMID:24882431|PMID:25741868|PMID:25900089|PMID:26135620|PMID:26467025|PMID:26537344|PMID:27884173|PMID:28492532|PMID:28497567|PMID:29229744|PMID:31655555|PMID:8640238
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:0060854	autosomal recessive pseudohypoaldosteronism type 1		ISO	RGD:732847	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1	PMID:10391210|PMID:12473862|PMID:17460608|PMID:17634077|PMID:18507830|PMID:21956615|PMID:22995991|PMID:24033266|PMID:24882431|PMID:25741868|PMID:25900089|PMID:26467025|PMID:26537344|PMID:27884173|PMID:28492532|PMID:29229744|PMID:31328266|PMID:31655555
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:0080528	bronchiectasis 3		ISO	RGD:732847	D	RGD:7240710	20180130	OMIM			
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:0080528	bronchiectasis 3		ISO	RGD:732847	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 3	PMID:10391210|PMID:12473862|PMID:15198480|PMID:17460608|PMID:17560176|PMID:17576681|PMID:17634077|PMID:18507830|PMID:19017867|PMID:21956615|PMID:22995991|PMID:23136006|PMID:24033266|PMID:24882431|PMID:25741868|PMID:25900089|PMID:26467025|PMID:26537344|PMID:27582106|PMID:27884173|PMID:28484659|PMID:28492532|PMID:29204651|PMID:29229744|PMID:29997923|PMID:30801930|PMID:31328266|PMID:31655555|PMID:7550319|PMID:9536098
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:10763	hypertension		ISO	RGD:732847	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15198480
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:10763	hypertension	onset	ISO	RGD:3641	D	RGD:9068941	20260611	RGD		mRNA:increased expression:kidney	PMID:23959560|REF_RGD_ID:730468049
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:1184	nephrotic syndrome		ISO	RGD:3641	D	RGD:9068941	20260625	RGD		protein:altered expression:kidney	PMID:16189294|REF_RGD_ID:736686873
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:1485	cystic fibrosis		ISO	RGD:732847	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16463024
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:2661	myoepithelioma		ISO	RGD:732847	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:3070	high grade glioma		ISO	RGD:732847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:4479	pseudohypoaldosteronism		ISO	RGD:732847	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8640238
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:4479	pseudohypoaldosteronism		ISO	RGD:732847	D	RGD:9068941	20200609	RGD		PHA type I,OMIM:264350;DNA:splice-site mutation:318-1G>A	PMID:8640238|REF_RGD_ID:1624147
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:5199	ureteral obstruction		ISO	RGD:3641	D	RGD:9068941	20260611	RGD		protein:decreased expression:kidney	PMID:17475897|REF_RGD_ID:2308940
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:6000	congestive heart failure		ISO	RGD:3641	D	RGD:9068941	20260611	RGD		protein:decreased expression:arterial baroreceptor	PMID:26297031|REF_RGD_ID:730468047
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:630	genetic disease		ISO	RGD:732847	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:9000641	Pain		ISO	RGD:732847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	PMID:12473862|PMID:17634077|PMID:21956615|PMID:24882431|PMID:25741868|PMID:26537344|PMID:28492532|PMID:29229744|PMID:31655555
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:9001981	Weight Loss		ISO	RGD:732847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:12473862|PMID:17634077|PMID:21956615|PMID:24882431|PMID:25741868|PMID:26537344|PMID:28492532|PMID:29229744|PMID:31655555
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:9003711	Steatorrhea		ISO	RGD:732847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Steatorrhea	PMID:12473862|PMID:17634077|PMID:21956615|PMID:24882431|PMID:25741868|PMID:26537344|PMID:28492532|PMID:29229744|PMID:31655555
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:3641	D	RGD:9068941	20260625	RGD		mRNA:decreased expression:lung	PMID:19150416|REF_RGD_ID:736686872
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:3641	D	RGD:9068941	20260101	RGD			PMID:23061076|REF_RGD_ID:629142781
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3641	D	RGD:9068941	20260611	RGD		protein:increased expression:cortex of kidney, inner medulla of kidney	PMID:18029369|REF_RGD_ID:730468053
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3641	D	RGD:9068941	20260625	RGD		protein:decreased expression:kidney	PMID:18162719|REF_RGD_ID:736686865
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:9006024	Hypotension		ISO	RGD:732847	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11463765
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:9006617	Fatigue		ISO	RGD:732847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:12473862|PMID:17634077|PMID:21956615|PMID:24882431|PMID:25741868|PMID:26537344|PMID:28492532|PMID:29229744|PMID:31655555
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:9006708	PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE		ISO	RGD:732847	D	RGD:7240710	20230308	OMIM			
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:9006708	PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE		ISO	RGD:732847	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB3, autosomal recessive	PMID:12473862|PMID:15198480|PMID:17560176|PMID:17634077|PMID:18507830|PMID:19017867|PMID:21956615|PMID:23136006|PMID:24882431|PMID:25741868|PMID:26537344|PMID:28492532|PMID:29204651|PMID:29229744|PMID:31655555
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:9006963	Pseudohypoaldosteronism Type IB1, Autosomal Recessive		ISO	RGD:732847	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB1, autosomal recessive	PMID:10391210|PMID:12473862|PMID:15198480|PMID:17460608|PMID:17634077|PMID:18424465|PMID:18507830|PMID:21956615|PMID:22995991|PMID:24033266|PMID:24882431|PMID:25741868|PMID:25900089|PMID:26467025|PMID:26537344|PMID:27884173|PMID:28492532|PMID:29229744|PMID:31328266|PMID:31655555
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:9007420	Liddle Syndrome 2		ISO	RGD:732847	D	RGD:7240710	20190315	OMIM			
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:9007420	Liddle Syndrome 2		ISO	RGD:732847	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LIDDLE SYNDROME 2 | ClinVar Annotator: match by term: Liddle syndrome 2	PMID:10391210|PMID:12473862|PMID:15198480|PMID:17460608|PMID:17560176|PMID:17634077|PMID:18507830|PMID:19017867|PMID:21956615|PMID:22995991|PMID:23136006|PMID:24033266|PMID:24882431|PMID:25741868|PMID:25900089|PMID:26467025|PMID:26537344|PMID:27884173|PMID:28492532|PMID:29204651|PMID:29229744|PMID:31328266|PMID:31655555
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:9007736	Vertigo		ISO	RGD:732847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:12473862|PMID:17634077|PMID:21956615|PMID:24882431|PMID:25741868|PMID:26537344|PMID:28492532|PMID:29229744|PMID:31655555
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:9008821	Otitis Media with Effusion		ISO	RGD:3641	D	RGD:9068941	20260625	RGD		mRNA:increased expression:mucosa of middle ear	PMID:19732969|REF_RGD_ID:736686874
8818814	Scnn1g	sodium channel epithelial 1 subunit gamma	gene	DOID:9970	obesity		ISO	RGD:3641	D	RGD:9068941	20260625	RGD		protein:increased expression:kidney	PMID:18305093|REF_RGD_ID:736686869
8818837	Tars3	threonyl-tRNA synthetase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818837	Tars3	threonyl-tRNA synthetase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1351710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8818837	Tars3	threonyl-tRNA synthetase 3	gene	DOID:1115	sarcoma		ISO	RGD:1351710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8818837	Tars3	threonyl-tRNA synthetase 3	gene	DOID:1324	lung cancer		ISO	RGD:1351710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8818837	Tars3	threonyl-tRNA synthetase 3	gene	DOID:1909	melanoma		ISO	RGD:1351710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8818837	Tars3	threonyl-tRNA synthetase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1351710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8818837	Tars3	threonyl-tRNA synthetase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1351710	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8818837	Tars3	threonyl-tRNA synthetase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818837	Tars3	threonyl-tRNA synthetase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818837	Tars3	threonyl-tRNA synthetase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8818861	Ppp1r1b	protein phosphatase 1 regulatory inhibitor subunit 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818861	Ppp1r1b	protein phosphatase 1 regulatory inhibitor subunit 1B	gene	DOID:0060001	withdrawal disorder	treatment	ISO	RGD:621859	D	RGD:9068941	20200609	RGD		associated with Morphine Dependence	PMID:25604667|REF_RGD_ID:13514096
8818861	Ppp1r1b	protein phosphatase 1 regulatory inhibitor subunit 1B	gene	DOID:12858	Huntington's disease		ISO	RGD:621859	D	RGD:9068941	20200609	RGD			PMID:18502785|REF_RGD_ID:13515080
8818861	Ppp1r1b	protein phosphatase 1 regulatory inhibitor subunit 1B	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:621859	D	RGD:9068941	20200609	RGD			PMID:27457507|REF_RGD_ID:13514054
8818861	Ppp1r1b	protein phosphatase 1 regulatory inhibitor subunit 1B	gene	DOID:1824	status epilepticus		ISO	RGD:621859	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:brain	PMID:25219249|REF_RGD_ID:13515071
8818861	Ppp1r1b	protein phosphatase 1 regulatory inhibitor subunit 1B	gene	DOID:3312	bipolar disorder		ISO	RGD:1347073	D	RGD:9068941	20200609	RGD		DNA, mRNA:SNPs, haplotype, splice variant:multiple	PMID:23295814|REF_RGD_ID:13515076
8818861	Ppp1r1b	protein phosphatase 1 regulatory inhibitor subunit 1B	gene	DOID:3454	brain infarction		ISO	RGD:621859	D	RGD:9068941	20221027	RGD		protein:altered expression:brain (rat)	PMID:12161747|REF_RGD_ID:155630606
8818861	Ppp1r1b	protein phosphatase 1 regulatory inhibitor subunit 1B	gene	DOID:5419	schizophrenia		ISO	RGD:1347073	D	RGD:9068941	20200609	RGD		DNA, mRNA:SNPs, haplotype, splice variant:multiple	PMID:23295814|REF_RGD_ID:13515076
8818861	Ppp1r1b	protein phosphatase 1 regulatory inhibitor subunit 1B	gene	DOID:5419	schizophrenia		ISO	RGD:621859	D	RGD:9068941	20200609	RGD		protein:increased threonine phosphorylation:nucleus accumbens	PMID:22820052|REF_RGD_ID:13515078
8818861	Ppp1r1b	protein phosphatase 1 regulatory inhibitor subunit 1B	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:621859	D	RGD:9068941	20200609	RGD			PMID:23543809|REF_RGD_ID:13515075
8818861	Ppp1r1b	protein phosphatase 1 regulatory inhibitor subunit 1B	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:621859	D	RGD:9068941	20200609	RGD			PMID:23153068|REF_RGD_ID:13515077
8818861	Ppp1r1b	protein phosphatase 1 regulatory inhibitor subunit 1B	gene	DOID:9003805	Catalepsy		ISO	RGD:1347073	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: therapeutic	PMID:20682746
8818861	Ppp1r1b	protein phosphatase 1 regulatory inhibitor subunit 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818861	Ppp1r1b	protein phosphatase 1 regulatory inhibitor subunit 1B	gene	DOID:9008394	Drug-Induced Dyskinesia	treatment	ISO	RGD:621859	D	RGD:9068941	20200609	RGD		associated with Parkinsonian Disorders	PMID:27771532|REF_RGD_ID:13514053
8818861	Ppp1r1b	protein phosphatase 1 regulatory inhibitor subunit 1B	gene	DOID:9008675	Dyskinesias		ISO	RGD:1347073	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: therapeutic	PMID:20682746
8818861	Ppp1r1b	protein phosphatase 1 regulatory inhibitor subunit 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:0050567	orofacial cleft		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip/palate	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:0060249	scoliosis		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:24470203
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:0080196	mandibulofacial dysostosis, Guion-Almeida type		ISO	RGD:1606577	D	RGD:7240710	20180130	OMIM			
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:0080196	mandibulofacial dysostosis, Guion-Almeida type		ISO	RGD:1606577	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: EFTUD2-related condition | ClinVar Annotator: match by term: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | ClinVar Annotator: match by term: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE | ClinVar Annotator: match by term: Mandibulofacial dysostosis, Guion-Almeida type | ClinVar Annotator: match by term: Mandibulofacial dysostosis-microcephaly syndrome	PMID:16199547|PMID:16760738|PMID:17576681|PMID:22305528|PMID:23188108|PMID:23239648|PMID:23879989|PMID:24470203|PMID:24999515|PMID:25326637|PMID:25387991|PMID:2573526|PMID:25741868|PMID:26507355|PMID:28492532|PMID:28643921|PMID:32333448|PMID:32408545|PMID:32410215|PMID:32799722|PMID:33247512|PMID:34218205|PMID:34693919|PMID:36135330|PMID:37236975|PMID:38041506|PMID:9536098
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:10485	esophageal atresia		ISO	RGD:1606577	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	PMID:25741868
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:10907	microcephaly		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:24470203|PMID:25741868|PMID:37236975
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:13620	patent foramen ovale		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:1826	epilepsy		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic seizures | ClinVar Annotator: match by term: Seizure	PMID:25741868
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:2043	hepatitis B	susceptibility	ISO	RGD:1606577	D	RGD:9068941	20230105	RGD			PMID:34436958|REF_RGD_ID:155791665
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:219	colon cancer	ameliorates	ISO	RGD:1557328	D	RGD:9068941	20230105	RGD		associated with colitis;	PMID:31278373|REF_RGD_ID:155791667
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606577	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:630	genetic disease		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:24470203|PMID:25741868|PMID:25954003|PMID:26507355|PMID:27618451|PMID:28490743|PMID:28492532|PMID:32408545|PMID:33247512|PMID:37236975|PMID:9536098
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:674	cleft palate		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1606577	D	RGD:9068941	20230105	RGD			PMID:34282556|REF_RGD_ID:155791664
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1606577	D	RGD:9068941	20230105	RGD			PMID:34282556|REF_RGD_ID:155791664
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:8488	polyhydramnios		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:24470203|PMID:25741868
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9000586	Vocal Cord Paralysis		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vocal cord paralysis	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9001031	Retrognathia		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:24470203
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1606577	D	RGD:9068941	20230105	RGD		protein:increased expression:trophoblast, decidua:	PMID:32447180|REF_RGD_ID:155791666
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9003748	Thumb Deformity		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumb deformity	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:37236975
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9005147	Hydatidiform Mole		ISO	RGD:1606577	D	RGD:9068941	20230105	RGD		protein:increased expression:trophoblast, decidua:	PMID:32447180|REF_RGD_ID:155791666
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9005616	Micrognathism		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:26507355
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9007388	Heterochromia Iridis		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heterochromia iridis	PMID:25741868
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9007573	Flatfoot		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9007892	Tics		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tics	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9008003	Mandibulofacial Dysostosis		ISO	RGD:1606577	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Mandibulofacial dysostosis	PMID:25741868
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606577	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24999515|PMID:25741868|PMID:25741880|PMID:26507355|PMID:28492532
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9008189	Pyelectasis		ISO	RGD:1606577	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: pyelectasis	PMID:32641753
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9008682	Velopharyngeal Insufficiency		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Velopharyngeal insufficiency	PMID:25741868
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8818875	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1062	Fanconi syndrome		ISO	RGD:1308466	D	RGD:9068941	20230223	RGD			PMID:35695380|REF_RGD_ID:155630629
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1064	cystinosis		ISO	RGD:1318250	D	RGD:7240710	20180130	OMIM			
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1064	cystinosis		ISO	RGD:1318250	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: CYSTINOSIN, DEFECT OF | ClinVar Annotator: match by term: Cystine diathesis | ClinVar Annotator: match by term: Cystinoses | ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Cystinosis | ClinVar Annotator: match by term: Cystinosis, atypical nephropathic | ClinVar Annotator: match by term: LYSOSOMAL CYSTINE TRANSPORT PROTEIN, DEFECT OF | ClinVar Annotator: match by term: Lysosomal cystine transport protein, defect of | ClinVar Annotator: match by term: Nephropathic cystinosis	PMID:10068513|PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19580442|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:20352457|PMID:21305353|PMID:21546516|PMID:21786142|PMID:21963264|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24385851|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27451386|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29127259|PMID:29421779|PMID:29467429|PMID:30214781|PMID:30554218|PMID:30609409|PMID:30949462|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33661986|PMID:33822926|PMID:35513889|PMID:35524314|PMID:35571017|PMID:35738466|PMID:9536098|PMID:9537412|PMID:9792862
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1064	cystinosis		ISO	RGD:1318250	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Cystinoses | ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Cystinosis | ClinVar Annotator: match by term: LYSOSOMAL CYSTINE TRANSPORT PROTEIN, DEFECT OF | ClinVar Annotator: match by term: Nephropathic cystinosis | ClinVar Annotator: match by term: cystinosis	PMID:10068513|PMID:10444339|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:11528232|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18752449|PMID:19580442|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:21305353|PMID:21786142|PMID:22450360|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:26994576|PMID:27102039|PMID:27151922|PMID:27533158|PMID:27625850|PMID:27734949|PMID:28238446|PMID:28276207|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:29127259|PMID:29421779|PMID:30554218|PMID:30609409|PMID:30849045|PMID:31672123|PMID:33532864|PMID:33822926|PMID:35006361|PMID:35524314|PMID:35571017|PMID:35738466|PMID:36117148|PMID:36941667|PMID:9536098|PMID:9537412|PMID:9792862
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1064	cystinosis	susceptibility	ISO	RGD:1318250	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:9537412|REF_RGD_ID:1601022
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1064	cystinosis	treatment	ISO	RGD:1318250	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:18578013|REF_RGD_ID:12910866
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:13250	diarrhea		ISO	RGD:1318250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:10556299|PMID:11565547|PMID:12204010|PMID:12442267|PMID:12825071|PMID:15128704|PMID:19863563|PMID:21786142|PMID:23640116|PMID:24464559|PMID:25741868|PMID:28492532|PMID:35571017|PMID:9792862
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1459	hypothyroidism		ISO	RGD:1318250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1909	melanoma		ISO	RGD:1318250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:2355	anemia		ISO	RGD:1318250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:10556299|PMID:11565547|PMID:12204010|PMID:12442267|PMID:12825071|PMID:15128704|PMID:19863563|PMID:21786142|PMID:23640116|PMID:24464559|PMID:25741868|PMID:28492532|PMID:35571017|PMID:9792862
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:576	proteinuria		ISO	RGD:1318250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:10556299|PMID:11565547|PMID:12204010|PMID:12442267|PMID:12825071|PMID:15128704|PMID:19863563|PMID:21786142|PMID:23640116|PMID:24464559|PMID:25741868|PMID:28492532|PMID:35571017|PMID:9792862
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:630	genetic disease		ISO	RGD:1318250	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:10909858|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:20352457|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:26655004|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29421779|PMID:29467429|PMID:30214781|PMID:30554218|PMID:30849045|PMID:30949462|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33661986|PMID:33822926|PMID:35513889|PMID:35571017|PMID:35738466|PMID:7668285|PMID:9536098|PMID:9537412|PMID:9792862
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:630	genetic disease		ISO	RGD:1318250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10444339|PMID:10556299|PMID:10625078|PMID:10673275|PMID:11565547|PMID:11689434|PMID:12204010|PMID:12442267|PMID:12825071|PMID:15128704|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:20352457|PMID:21786142|PMID:22664570|PMID:23640116|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25640679|PMID:25741868|PMID:26266097|PMID:26565940|PMID:26655004|PMID:27102039|PMID:27734949|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28793998|PMID:28893421|PMID:29467429|PMID:30554218|PMID:30949462|PMID:31074291|PMID:31672123|PMID:35524314|PMID:35571017|PMID:36941667|PMID:9536098|PMID:9537412|PMID:9792862
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:1318250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypophosphatemic rickets	PMID:25741868
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:9002525	Hereditary Eye Diseases	treatment	ISO	RGD:1318250	D	RGD:9068941	20200609	RGD		associated with Cystinosis;human gene in a mouse model	PMID:26540660|REF_RGD_ID:11354731
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:9002714	Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type		ISO	RGD:1318250	D	RGD:7240710	20180130	OMIM			
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:9002714	Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type		ISO	RGD:1318250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE	PMID:10444339|PMID:10556299|PMID:10625078|PMID:11565547|PMID:12204010|PMID:12442267|PMID:12825071|PMID:15128704|PMID:19863563|PMID:20061170|PMID:20301574|PMID:21786142|PMID:23640116|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:27102039|PMID:27734949|PMID:28238446|PMID:28492532|PMID:30554218|PMID:35524314|PMID:35571017|PMID:36941667|PMID:9537412|PMID:9792862
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:9004409	Abderhalden-Kaufmann-Lignac Syndrome		ISO	RGD:1318250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome	PMID:10556299|PMID:15128704|PMID:24123366|PMID:25326109|PMID:25741868|PMID:27102039|PMID:28492532|PMID:31672123|PMID:9537412
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1318250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:9007952	Cystinosis, Ocular Nonnephropathic		ISO	RGD:1318250	D	RGD:7240710	20180130	OMIM			
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:9007952	Cystinosis, Ocular Nonnephropathic		ISO	RGD:1318250	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cystinosis, adult, nonnephropathic | ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic	PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:10909858|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29467429|PMID:30554218|PMID:30849045|PMID:30949462|PMID:30957593|PMID:31074291|PMID:33532864|PMID:33822926|PMID:7668285|PMID:9536098|PMID:9537412|PMID:9792862
8818909	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:9007952	Cystinosis, Ocular Nonnephropathic		ISO	RGD:1318250	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CYSTINOSIS, OCULAR NONNEPHROPATHIC | ClinVar Annotator: match by term: Ocular cystinosis	PMID:10556299|PMID:10625078|PMID:11565547|PMID:12204010|PMID:12442267|PMID:12825071|PMID:15128704|PMID:19863563|PMID:20061170|PMID:20301574|PMID:21786142|PMID:23640116|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:27102039|PMID:27734949|PMID:28492532|PMID:30554218|PMID:31672123|PMID:35524314|PMID:35571017|PMID:36941667|PMID:9537412|PMID:9792862
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:0014667	disease of metabolism		ISO	RGD:621725	D	RGD:9068941	20200609	RGD		Acute Lysosomal Thesaurismosis;protein: increased expression:kidney proximal tubule epithelial cell, lysosome (rat)	PMID:10469394|REF_RGD_ID:4142786
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:0050561	Lennox-Gastaut syndrome		ISO	RGD:736219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lennox-Gastaut syndrome	PMID:25741868
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:10733	D	RGD:9068941	20200609	RGD			PMID:21135124|REF_RGD_ID:6218980
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:0050967	spinocerebellar ataxia 17		ISO	RGD:736219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413982
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:621725	D	RGD:9068941	20200609	RGD			PMID:9557158|REF_RGD_ID:7242787
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:1073	renal hypertension		ISO	RGD:736219	D	RGD:9068941	20200609	RGD		DNA: snp: 5'utr: -110A>C Associated with chronic kidney disease	PMID:21475814|REF_RGD_ID:7242785
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:10763	hypertension		ISO	RGD:736219	D	RGD:9068941	20200609	RGD		mRNA: increased expression: leukocyte	PMID:17341625|REF_RGD_ID:6480224
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:12858	Huntington's disease		ISO	RGD:10733	D	RGD:9068941	20200609	RGD		protein: increased expression	PMID:22171050|REF_RGD_ID:5688778
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:1324	lung cancer		ISO	RGD:736219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:14330	Parkinson's disease		ISO	RGD:621725	D	RGD:9068941	20200609	RGD		protein: increased expression: brain	PMID:17241115|REF_RGD_ID:6480228
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:14330	Parkinson's disease		ISO	RGD:736219	D	RGD:9068941	20200609	RGD			PMID:18704197|REF_RGD_ID:6480203
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:14330	Parkinson's disease		ISO	RGD:736219	D	RGD:9068941	20200609	RGD		protein: decreased expression	PMID:20697033|REF_RGD_ID:6218982
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:736219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:1909	melanoma		ISO	RGD:736219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:224	transient cerebral ischemia		ISO	RGD:621725	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, postsynaptic density (rat)	PMID:9425004|REF_RGD_ID:10059344
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:2316	brain ischemia		ISO	RGD:621725	D	RGD:9068941	20200609	RGD			PMID:16805800|REF_RGD_ID:6480229
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:2377	multiple sclerosis		ISO	RGD:736219	D	RGD:9068941	20200609	RGD		protein: increased expression: cerebrospinal fluid	PMID:16303141|REF_RGD_ID:6480236
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:2378	relapsing-remitting multiple sclerosis		ISO	RGD:736219	D	RGD:9068941	20200609	RGD		protein: increased expression	PMID:21824468|REF_RGD_ID:5688780
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:299	adenocarcinoma		ISO	RGD:736219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:3021	acute kidney failure		ISO	RGD:621725	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney, lysosome (rat)	PMID:14966137|REF_RGD_ID:7242786
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:3498	pancreatic ductal adenocarcinoma	disease_progression	ISO	RGD:736219	D	RGD:9068941	20220303	RGD		protein:decreased expression:blood (human)	PMID:32663515|REF_RGD_ID:151660329
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:4362	cervical cancer		ISO	RGD:736219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:4448	macular degeneration		ISO	RGD:736219	D	RGD:9068941	20200609	RGD		mRNA: increased expression: white blood cells	PMID:19684010|REF_RGD_ID:6478714
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736219	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:736219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:736219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:736219	D	RGD:9068941	20200609	RGD			PMID:17330940|REF_RGD_ID:7242762
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:736219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10216529
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:621725	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:15270078|REF_RGD_ID:4891447
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:9004626	Ocular Paraneoplastic Syndromes		ISO	RGD:621725	D	RGD:9068941	20200609	RGD			PMID:10586938|REF_RGD_ID:10059329
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:736219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:621725	D	RGD:9068941	20200609	RGD			PMID:7569112|REF_RGD_ID:7242788
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:736219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:621725	D	RGD:9068941	20200609	RGD		protein:altered localization:liver (rat)	PMID:12376827|REF_RGD_ID:10059389
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8818937	Hspa8	heat shock protein family A (Hsp70) member 8	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:736219	D	RGD:9068941	20200609	RGD		protein: increased expression: serum	PMID:19578980|REF_RGD_ID:6480104
8818950	CUNH8orf33	chromosome unknown C8orf33 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1606509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8818950	CUNH8orf33	chromosome unknown C8orf33 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1606509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8818950	CUNH8orf33	chromosome unknown C8orf33 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8818950	CUNH8orf33	chromosome unknown C8orf33 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8818950	CUNH8orf33	chromosome unknown C8orf33 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8818950	CUNH8orf33	chromosome unknown C8orf33 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:11162	respiratory failure		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:1596	depressive disorder		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:2841	asthma		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:480	movement disease		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1601858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:9007736	Vertigo		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:9008465	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE		ISO	RGD:1601858	D	RGD:7240710	20200826	OMIM			
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:9008465	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE		ISO	RGD:1601858	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CSGALNACT1-related condition | ClinVar Annotator: match by term: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE | ClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone age	PMID:25741868|PMID:27599773|PMID:28492532|PMID:31705726
8818962	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8819000	Stip1	stress induced phosphoprotein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8819000	Stip1	stress induced phosphoprotein 1	gene	DOID:0080815	childhood-onset asthma	susceptibility	ISO	RGD:733337	D	RGD:9068941	20251002	RGD		DNA:SNP::rs2236647	PMID:33208131|REF_RGD_ID:628360900
8819000	Stip1	stress induced phosphoprotein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8819000	Stip1	stress induced phosphoprotein 1	gene	DOID:1909	melanoma		ISO	RGD:733337	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
8819000	Stip1	stress induced phosphoprotein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8819000	Stip1	stress induced phosphoprotein 1	gene	DOID:440	neuromuscular disease		ISO	RGD:733337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:31690835
8819000	Stip1	stress induced phosphoprotein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8819000	Stip1	stress induced phosphoprotein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733337	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8819000	Stip1	stress induced phosphoprotein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8819000	Stip1	stress induced phosphoprotein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819000	Stip1	stress induced phosphoprotein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:733337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8819000	Stip1	stress induced phosphoprotein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8819000	Stip1	stress induced phosphoprotein 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:733337	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:33766539
8819000	Stip1	stress induced phosphoprotein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8819000	Stip1	stress induced phosphoprotein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:733337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	
8819018	Dgat2	diacylglycerol O-acyltransferase 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1352737	D	RGD:9068941	20200609	RGD			PMID:17618857|REF_RGD_ID:10401056
8819018	Dgat2	diacylglycerol O-acyltransferase 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:620329	D	RGD:9068941	20230720	RGD			PMID:24166662|PMID:26394137|REF_RGD_ID:10400900|REF_RGD_ID:329955565
8819018	Dgat2	diacylglycerol O-acyltransferase 2	gene	DOID:0110154	Charcot-Marie-Tooth disease type 2A1		ISO	RGD:1352737	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A1	
8819018	Dgat2	diacylglycerol O-acyltransferase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8819018	Dgat2	diacylglycerol O-acyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:1352737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8819018	Dgat2	diacylglycerol O-acyltransferase 2	gene	DOID:13580	cholestasis		ISO	RGD:1352737	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
8819018	Dgat2	diacylglycerol O-acyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1352737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8819018	Dgat2	diacylglycerol O-acyltransferase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1352737	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8819018	Dgat2	diacylglycerol O-acyltransferase 2	gene	DOID:784	chronic kidney disease		ISO	RGD:620329	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver:	PMID:23045433|REF_RGD_ID:10400847
8819018	Dgat2	diacylglycerol O-acyltransferase 2	gene	DOID:9002331	Knee Osteoarthritis	severity	ISO	RGD:1352737	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:fat pad:	PMID:21765106|REF_RGD_ID:6893494
8819018	Dgat2	diacylglycerol O-acyltransferase 2	gene	DOID:9006599	Hypertriglyceridemia	treatment	ISO	RGD:620329	D	RGD:9068941	20230720	RGD			PMID:26394137|REF_RGD_ID:329955565
8819018	Dgat2	diacylglycerol O-acyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819018	Dgat2	diacylglycerol O-acyltransferase 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1352737	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17984051
8819018	Dgat2	diacylglycerol O-acyltransferase 2	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:620329	D	RGD:9068941	20230720	RGD			PMID:26394137|REF_RGD_ID:329955565
8819018	Dgat2	diacylglycerol O-acyltransferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8819018	Dgat2	diacylglycerol O-acyltransferase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8819018	Dgat2	diacylglycerol O-acyltransferase 2	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:620329	D	RGD:9068941	20200609	RGD			PMID:17526931|REF_RGD_ID:10400884
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:0060870	isolated growth hormone deficiency		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Growth hormone deficiency	PMID:19377476|PMID:25741868|PMID:27993705
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:0112046	non-syndromic X-linked intellectual disability 97		ISO	RGD:1347410	D	RGD:7240710	20180130	OMIM			
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:0112046	non-syndromic X-linked intellectual disability 97		ISO	RGD:1347410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97 | ClinVar Annotator: match by term: ZNF711-related disorder	PMID:25741868|PMID:28454995|PMID:28492532
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:10534	stomach cancer		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:1059	intellectual disability		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:1115	sarcoma		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:12849	autistic disorder		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:1324	lung cancer		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:1826	epilepsy		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:630	genetic disease		ISO	RGD:1347410	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:9005077	Joint Instability		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1347410	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19377476
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:936	brain disease		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
8819051	Znf711	ZFX family zinc finger ZNF711	gene	DOID:9970	obesity		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
8819100	Fpgs	folylpolyglutamate synthase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8819100	Fpgs	folylpolyglutamate synthase	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1346571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17119116
8819100	Fpgs	folylpolyglutamate synthase	gene	DOID:10534	stomach cancer		ISO	RGD:1346571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8819100	Fpgs	folylpolyglutamate synthase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8819100	Fpgs	folylpolyglutamate synthase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8819100	Fpgs	folylpolyglutamate synthase	gene	DOID:2394	ovarian cancer		ISO	RGD:1346571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8819100	Fpgs	folylpolyglutamate synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819100	Fpgs	folylpolyglutamate synthase	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1346571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23897011
8819100	Fpgs	folylpolyglutamate synthase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8819100	Fpgs	folylpolyglutamate synthase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1346571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8819100	Fpgs	folylpolyglutamate synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819100	Fpgs	folylpolyglutamate synthase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1346571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15814641
8819100	Fpgs	folylpolyglutamate synthase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8819100	Fpgs	folylpolyglutamate synthase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8819100	Fpgs	folylpolyglutamate synthase	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1346571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25013492
8819123	Adpgk	ADP dependent glucokinase	gene	DOID:1115	sarcoma		ISO	RGD:1353628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8819123	Adpgk	ADP dependent glucokinase	gene	DOID:1909	melanoma		ISO	RGD:1353628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8819123	Adpgk	ADP dependent glucokinase	gene	DOID:4362	cervical cancer		ISO	RGD:1353628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8819123	Adpgk	ADP dependent glucokinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819123	Adpgk	ADP dependent glucokinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8819152	Hsd17b8	hydroxysteroid 17-beta dehydrogenase 8	gene	DOID:1324	lung cancer		ISO	RGD:1351353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8819152	Hsd17b8	hydroxysteroid 17-beta dehydrogenase 8	gene	DOID:3275	thymoma		ISO	RGD:1351353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8819152	Hsd17b8	hydroxysteroid 17-beta dehydrogenase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819152	Hsd17b8	hydroxysteroid 17-beta dehydrogenase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819169	Cep164	centrosomal protein 164	gene	DOID:0050576	Senior-Loken syndrome		ISO	RGD:1605084	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia	PMID:16199547|PMID:22863007|PMID:25741868|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853
8819169	Cep164	centrosomal protein 164	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8819169	Cep164	centrosomal protein 164	gene	DOID:0111123	nephronophthisis 15		ISO	RGD:1605084	D	RGD:7240710	20180130	OMIM			
8819169	Cep164	centrosomal protein 164	gene	DOID:0111123	nephronophthisis 15		ISO	RGD:1605084	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CEP164-related condition | ClinVar Annotator: match by term: NEPHRONOPHTHISIS 15 | ClinVar Annotator: match by term: Nephronophthisis 15	PMID:16199547|PMID:17576681|PMID:17954613|PMID:22863007|PMID:24882706|PMID:25340510|PMID:25616960|PMID:25741868|PMID:26546047|PMID:27708425|PMID:28125082|PMID:28492532|PMID:29974258|PMID:31345219|PMID:31785789|PMID:32055034|PMID:32367404|PMID:32483926|PMID:33111339|PMID:33249554|PMID:34013113|PMID:34132027|PMID:3442652|PMID:34499853|PMID:34556108|PMID:35112343|PMID:35728977|PMID:36273371|PMID:37324592|PMID:40769470|PMID:9536098
8819169	Cep164	centrosomal protein 164	gene	DOID:10534	stomach cancer		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8819169	Cep164	centrosomal protein 164	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8819169	Cep164	centrosomal protein 164	gene	DOID:1115	sarcoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8819169	Cep164	centrosomal protein 164	gene	DOID:1324	lung cancer		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8819169	Cep164	centrosomal protein 164	gene	DOID:1909	melanoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8819169	Cep164	centrosomal protein 164	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8819169	Cep164	centrosomal protein 164	gene	DOID:3275	thymoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8819169	Cep164	centrosomal protein 164	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8819169	Cep164	centrosomal protein 164	gene	DOID:4362	cervical cancer		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8819169	Cep164	centrosomal protein 164	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8819169	Cep164	centrosomal protein 164	gene	DOID:5041	esophageal cancer		ISO	RGD:1605084	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8819169	Cep164	centrosomal protein 164	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8819169	Cep164	centrosomal protein 164	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819169	Cep164	centrosomal protein 164	gene	DOID:6039	uveal melanoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8819169	Cep164	centrosomal protein 164	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8819169	Cep164	centrosomal protein 164	gene	DOID:630	genetic disease		ISO	RGD:1605084	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8819169	Cep164	centrosomal protein 164	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8819169	Cep164	centrosomal protein 164	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1605084	D	RGD:9068941	20220317	RGD		associated with Chronic Hepatitis C;DNA:SNP: :rs573455 (human)	PMID:22004425|REF_RGD_ID:151665169
8819169	Cep164	centrosomal protein 164	gene	DOID:8501	fundus dystrophy		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:22863007|PMID:25741868|PMID:28125082|PMID:28492532
8819169	Cep164	centrosomal protein 164	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8819169	Cep164	centrosomal protein 164	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819169	Cep164	centrosomal protein 164	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8819169	Cep164	centrosomal protein 164	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8819169	Cep164	centrosomal protein 164	gene	DOID:9256	colorectal cancer		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8819228	Lrr1	leucine rich repeat protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8819228	Lrr1	leucine rich repeat protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8819228	Lrr1	leucine rich repeat protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8819228	Lrr1	leucine rich repeat protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819228	Lrr1	leucine rich repeat protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819241	Numa1	nuclear mitotic apparatus protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8819241	Numa1	nuclear mitotic apparatus protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8819241	Numa1	nuclear mitotic apparatus protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8819241	Numa1	nuclear mitotic apparatus protein 1	gene	DOID:2661	myoepithelioma		ISO	RGD:1318746	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8819241	Numa1	nuclear mitotic apparatus protein 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1318746	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
8819241	Numa1	nuclear mitotic apparatus protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8819241	Numa1	nuclear mitotic apparatus protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318746	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8819241	Numa1	nuclear mitotic apparatus protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819241	Numa1	nuclear mitotic apparatus protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8819241	Numa1	nuclear mitotic apparatus protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819241	Numa1	nuclear mitotic apparatus protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8819281	Gucd1	guanylyl cyclase domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1353154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8819281	Gucd1	guanylyl cyclase domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353154	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8819281	Gucd1	guanylyl cyclase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819281	Gucd1	guanylyl cyclase domain containing 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1353154	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24763052
8819281	Gucd1	guanylyl cyclase domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8819306	Pnrc1	proline rich nuclear receptor coactivator 1	gene	DOID:0080600	COVID-19		ISO	RGD:1354036	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
8819306	Pnrc1	proline rich nuclear receptor coactivator 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1354036	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8819306	Pnrc1	proline rich nuclear receptor coactivator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8819312	Htr4	5-hydroxytryptamine receptor 4	gene	DOID:0050811	congenital adrenal hyperplasia		ISO	RGD:736061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17218722
8819312	Htr4	5-hydroxytryptamine receptor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8819312	Htr4	5-hydroxytryptamine receptor 4	gene	DOID:0051061	stroke		ISO	RGD:736061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:7886817
8819312	Htr4	5-hydroxytryptamine receptor 4	gene	DOID:0060224	atrial fibrillation		ISO	RGD:736061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:7886817
8819312	Htr4	5-hydroxytryptamine receptor 4	gene	DOID:10534	stomach cancer		ISO	RGD:736061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8819312	Htr4	5-hydroxytryptamine receptor 4	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:736061	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
8819312	Htr4	5-hydroxytryptamine receptor 4	gene	DOID:2841	asthma	susceptibility	ISO	RGD:736061	D	RGD:9068941	20260129	RGD		DNA:SNPs, haplotypes:intron, exon:multiple	PMID:21382128|REF_RGD_ID:632517852
8819312	Htr4	5-hydroxytryptamine receptor 4	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:736061	D	RGD:9068941	20260129	RGD		DNA:SNP:intron:rs3995090	PMID:24286382|REF_RGD_ID:632517853
8819312	Htr4	5-hydroxytryptamine receptor 4	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:736061	D	RGD:9068941	20260305	RGD		DNA:SNP: :rs3995090	PMID:21965014|REF_RGD_ID:633633059
8819312	Htr4	5-hydroxytryptamine receptor 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:736061	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
8819312	Htr4	5-hydroxytryptamine receptor 4	gene	DOID:8689	anorexia nervosa		ISO	RGD:10750	D	RGD:9068941	20220825	MouseDO			
8819312	Htr4	5-hydroxytryptamine receptor 4	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:736061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9806222
8819312	Htr4	5-hydroxytryptamine receptor 4	gene	DOID:9001109	Anorexia		ISO	RGD:736061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15146954
8819312	Htr4	5-hydroxytryptamine receptor 4	gene	DOID:9002554	Tachycardia		ISO	RGD:736061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7886817
8819312	Htr4	5-hydroxytryptamine receptor 4	gene	DOID:9477	pulmonary embolism		ISO	RGD:736061	D	RGD:9068941	20260129	RGD		mRNA:decreased expression:blood mononuclear cells	PMID:25785024|REF_RGD_ID:632517854
8819323	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8819323	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8819323	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8819323	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8819323	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8819323	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8819323	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8819323	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8819323	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8819323	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819323	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8819323	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8819323	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8819323	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819341	Otulin	OTU deubiquitinase with linear linkage specificity	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8819341	Otulin	OTU deubiquitinase with linear linkage specificity	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8819341	Otulin	OTU deubiquitinase with linear linkage specificity	gene	DOID:0061076	immunodeficiency 107		ISO	RGD:1602667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 107, SUSCEPTIBILITY TO INVASIVE STAPHYLOCOCCUS AUREUS INFECTION | ClinVar Annotator: match by term: Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection	PMID:35587511
8819341	Otulin	OTU deubiquitinase with linear linkage specificity	gene	DOID:0061076	immunodeficiency 107	susceptibility	ISO	RGD:1602667	D	RGD:7240710	20260729	OMIM			
8819341	Otulin	OTU deubiquitinase with linear linkage specificity	gene	DOID:0061169	autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome		ISO	RGD:1602667	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME, AUTOSOMAL DOMINANT	
8819341	Otulin	OTU deubiquitinase with linear linkage specificity	gene	DOID:0061169	autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome	susceptibility	ISO	RGD:1602667	D	RGD:7240710	20260729	OMIM			
8819341	Otulin	OTU deubiquitinase with linear linkage specificity	gene	DOID:0080163	autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome		ISO	RGD:1602667	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive | ClinVar Annotator: match by term: OTULIN-related condition	PMID:25741868|PMID:28492532
8819341	Otulin	OTU deubiquitinase with linear linkage specificity	gene	DOID:0080163	autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome	susceptibility	ISO	RGD:1602667	D	RGD:7240710	20260729	OMIM			
8819341	Otulin	OTU deubiquitinase with linear linkage specificity	gene	DOID:10534	stomach cancer		ISO	RGD:1602667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8819341	Otulin	OTU deubiquitinase with linear linkage specificity	gene	DOID:1909	melanoma		ISO	RGD:1602667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8819341	Otulin	OTU deubiquitinase with linear linkage specificity	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8819341	Otulin	OTU deubiquitinase with linear linkage specificity	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8819341	Otulin	OTU deubiquitinase with linear linkage specificity	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819341	Otulin	OTU deubiquitinase with linear linkage specificity	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8819354	Tspo2	translocator protein 2	gene	DOID:0060058	lymphoma		ISO	RGD:1606125	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8819354	Tspo2	translocator protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1606125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8819354	Tspo2	translocator protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8819364	Lrrc3c	leucine rich repeat containing 3C	gene	DOID:9415	allergic asthma		ISO	RGD:5131999	D	RGD:9068941	20250904	RGD		DNA:SNP:intron:rs4794820	PMID:22732088|REF_RGD_ID:626419672
8819380	Dtnb	dystrobrevin beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8819380	Dtnb	dystrobrevin beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8819380	Dtnb	dystrobrevin beta	gene	DOID:10534	stomach cancer		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8819380	Dtnb	dystrobrevin beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8819380	Dtnb	dystrobrevin beta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8819380	Dtnb	dystrobrevin beta	gene	DOID:3275	thymoma		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8819380	Dtnb	dystrobrevin beta	gene	DOID:4362	cervical cancer		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8819380	Dtnb	dystrobrevin beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819380	Dtnb	dystrobrevin beta	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8819380	Dtnb	dystrobrevin beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819380	Dtnb	dystrobrevin beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8819380	Dtnb	dystrobrevin beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8819380	Dtnb	dystrobrevin beta	gene	DOID:9256	colorectal cancer		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8819417	Smg6	SMG6 nonsense mediated mRNA decay factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8819417	Smg6	SMG6 nonsense mediated mRNA decay factor	gene	DOID:0112151	corpus callosum agenesis-abnormal genitalia syndrome		ISO	RGD:1320039	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Corpus callosum agenesis-abnormal genitalia syndrome	PMID:25741868
8819417	Smg6	SMG6 nonsense mediated mRNA decay factor	gene	DOID:10534	stomach cancer		ISO	RGD:1320039	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8819417	Smg6	SMG6 nonsense mediated mRNA decay factor	gene	DOID:1115	sarcoma		ISO	RGD:1320039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8819417	Smg6	SMG6 nonsense mediated mRNA decay factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1320039	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8819417	Smg6	SMG6 nonsense mediated mRNA decay factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8819417	Smg6	SMG6 nonsense mediated mRNA decay factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819417	Smg6	SMG6 nonsense mediated mRNA decay factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819417	Smg6	SMG6 nonsense mediated mRNA decay factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8819446	Ccdc175	coiled-coil domain containing 175	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8819446	Ccdc175	coiled-coil domain containing 175	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8819446	Ccdc175	coiled-coil domain containing 175	gene	DOID:5041	esophageal cancer		ISO	RGD:1347710	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8819446	Ccdc175	coiled-coil domain containing 175	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8819473	Ptch2	patched 2	gene	DOID:0050902	medulloblastoma		ISO	RGD:1604843	D	RGD:7240710	20180130	OMIM			
8819473	Ptch2	patched 2	gene	DOID:0050902	medulloblastoma		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME	PMID:25741868|PMID:28492532
8819473	Ptch2	patched 2	gene	DOID:0070365	nevoid basal cell carcinoma syndrome 1		ISO	RGD:1604843	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Basal cell nevus syndrome 1	PMID:18285427|PMID:25741868|PMID:28492532
8819473	Ptch2	patched 2	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:1604843	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27-altered	PMID:25741868
8819473	Ptch2	patched 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8819473	Ptch2	patched 2	gene	DOID:1115	sarcoma		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8819473	Ptch2	patched 2	gene	DOID:11830	myopia		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8819473	Ptch2	patched 2	gene	DOID:13501	Moebius syndrome		ISO	RGD:1604843	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum	PMID:28492532|PMID:28915250
8819473	Ptch2	patched 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8819473	Ptch2	patched 2	gene	DOID:2120	focal dermal hypoplasia		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GORLIN-GOLTZ SYNDROME	PMID:18285427|PMID:28492532
8819473	Ptch2	patched 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:16199547|PMID:28492532|PMID:40803816
8819473	Ptch2	patched 2	gene	DOID:2512	nevoid basal cell carcinoma syndrome		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES	PMID:16199547|PMID:17576681|PMID:18285427|PMID:23951062|PMID:25260786|PMID:25741868|PMID:28492532|PMID:28915250|PMID:32864857|PMID:33077954|PMID:34308104|PMID:35017683|PMID:38360123|PMID:40803816|PMID:9536098
8819473	Ptch2	patched 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1604843	D	RGD:7240710	20230505	OMIM			
8819473	Ptch2	patched 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1604843	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BASAL CELL CARCINOMA, SOMATIC | ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: PTCH2-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:31945512|PMID:9536098
8819473	Ptch2	patched 2	gene	DOID:3459	breast carcinoma		ISO	RGD:1604843	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:28492532
8819473	Ptch2	patched 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8819473	Ptch2	patched 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8819473	Ptch2	patched 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819473	Ptch2	patched 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8819473	Ptch2	patched 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604843	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
8819473	Ptch2	patched 2	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1604843	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
8819521	Morc3	MORC family CW-type zinc finger 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8819521	Morc3	MORC family CW-type zinc finger 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8819521	Morc3	MORC family CW-type zinc finger 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8819521	Morc3	MORC family CW-type zinc finger 3	gene	DOID:1115	sarcoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8819521	Morc3	MORC family CW-type zinc finger 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8819521	Morc3	MORC family CW-type zinc finger 3	gene	DOID:3275	thymoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8819521	Morc3	MORC family CW-type zinc finger 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8819521	Morc3	MORC family CW-type zinc finger 3	gene	DOID:4362	cervical cancer		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8819521	Morc3	MORC family CW-type zinc finger 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8819521	Morc3	MORC family CW-type zinc finger 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819521	Morc3	MORC family CW-type zinc finger 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819521	Morc3	MORC family CW-type zinc finger 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8819521	Morc3	MORC family CW-type zinc finger 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8819553	Crabp1	cellular retinoic acid binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1345653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8819553	Crabp1	cellular retinoic acid binding protein 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1345653	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17438526
8819553	Crabp1	cellular retinoic acid binding protein 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1345653	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16254461
8819553	Crabp1	cellular retinoic acid binding protein 1	gene	DOID:9000058	Keloid		ISO	RGD:1345653	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
8819553	Crabp1	cellular retinoic acid binding protein 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1345653	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
8819553	Crabp1	cellular retinoic acid binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8819561	Unc5d	unc-5 netrin receptor D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8819561	Unc5d	unc-5 netrin receptor D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8819561	Unc5d	unc-5 netrin receptor D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8819579	Rsbn1l	round spermatid basic protein 1 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8819579	Rsbn1l	round spermatid basic protein 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8819579	Rsbn1l	round spermatid basic protein 1 like	gene	DOID:0080600	COVID-19		ISO	RGD:1351057	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8819579	Rsbn1l	round spermatid basic protein 1 like	gene	DOID:10534	stomach cancer		ISO	RGD:1351057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8819579	Rsbn1l	round spermatid basic protein 1 like	gene	DOID:4362	cervical cancer		ISO	RGD:1351057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8819579	Rsbn1l	round spermatid basic protein 1 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1351057	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8819579	Rsbn1l	round spermatid basic protein 1 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8819579	Rsbn1l	round spermatid basic protein 1 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8819579	Rsbn1l	round spermatid basic protein 1 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8819597	Znf514	zinc finger protein 514	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8819597	Znf514	zinc finger protein 514	gene	DOID:3275	thymoma		ISO	RGD:1347182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8819597	Znf514	zinc finger protein 514	gene	DOID:4362	cervical cancer		ISO	RGD:1347182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8819597	Znf514	zinc finger protein 514	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8819597	Znf514	zinc finger protein 514	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819597	Znf514	zinc finger protein 514	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819597	Znf514	zinc finger protein 514	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8819607	Ctsh	cathepsin H	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8819607	Ctsh	cathepsin H	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8819607	Ctsh	cathepsin H	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:2447	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney proximal tubule	PMID:8840269|REF_RGD_ID:5686402
8819607	Ctsh	cathepsin H	gene	DOID:10534	stomach cancer		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8819607	Ctsh	cathepsin H	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8819607	Ctsh	cathepsin H	gene	DOID:12858	Huntington's disease		ISO	RGD:735454	D	RGD:9068941	20200609	RGD		protein:increased expression:caudate nucleus	PMID:7561949|REF_RGD_ID:5686393
8819607	Ctsh	cathepsin H	gene	DOID:1909	melanoma		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8819607	Ctsh	cathepsin H	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8819607	Ctsh	cathepsin H	gene	DOID:2377	multiple sclerosis		ISO	RGD:10423	D	RGD:9068941	20200609	RGD			PMID:17086443|REF_RGD_ID:5686392
8819607	Ctsh	cathepsin H	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:735454	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder	PMID:15183956|REF_RGD_ID:2315615
8819607	Ctsh	cathepsin H	gene	DOID:3068	glioblastoma		ISO	RGD:735454	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:8640738|REF_RGD_ID:1549417
8819607	Ctsh	cathepsin H	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:10423	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:spinal cord	PMID:17583678|REF_RGD_ID:5686391
8819607	Ctsh	cathepsin H	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8819607	Ctsh	cathepsin H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819607	Ctsh	cathepsin H	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8819607	Ctsh	cathepsin H	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:735454	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:12589965|REF_RGD_ID:5686394
8819607	Ctsh	cathepsin H	gene	DOID:9005166	Contusions		ISO	RGD:2447	D	RGD:9068941	20211224	RGD		mRNA:increased expression:gastrocnemius (rat)	PMID:11788364|REF_RGD_ID:631244
8819607	Ctsh	cathepsin H	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819607	Ctsh	cathepsin H	gene	DOID:9007980	Sleep Deprivation		ISO	RGD:2447	D	RGD:9068941	20200609	RGD			PMID:17027151|REF_RGD_ID:2306498
8819607	Ctsh	cathepsin H	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8819607	Ctsh	cathepsin H	gene	DOID:9256	colorectal cancer		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8819607	Ctsh	cathepsin H	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:735454	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18978792
8819623	Wls	Wnt ligand secretion mediator	gene	DOID:0070473	Zaki syndrome		ISO	RGD:1605334	D	RGD:7240710	20220223	OMIM			
8819623	Wls	Wnt ligand secretion mediator	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1605334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8819650	Arhgdig	Rho GDP dissociation inhibitor gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819659	Wnt2	Wnt family member 2	gene	DOID:10283	prostate cancer		ISO	RGD:736431	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:prostate gland	PMID:14517837|REF_RGD_ID:727214
8819659	Wnt2	Wnt family member 2	gene	DOID:1115	sarcoma		ISO	RGD:736431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8819659	Wnt2	Wnt family member 2	gene	DOID:12849	autistic disorder		ISO	RGD:736431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11449391|PMID:19895723
8819659	Wnt2	Wnt family member 2	gene	DOID:1612	breast cancer		ISO	RGD:736431	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:15736421|REF_RGD_ID:2291874
8819659	Wnt2	Wnt family member 2	gene	DOID:2871	endometrial carcinoma		ISO	RGD:736431	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:endometrium	PMID:9099960|REF_RGD_ID:2291875
8819659	Wnt2	Wnt family member 2	gene	DOID:3070	high grade glioma		ISO	RGD:736431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8819659	Wnt2	Wnt family member 2	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:736431	D	RGD:9068941	20200609	RGD		DNA:amplification:breast	PMID:7903963|REF_RGD_ID:2291879
8819659	Wnt2	Wnt family member 2	gene	DOID:3996	urinary system cancer		ISO	RGD:736431	D	RGD:9068941	20200609	RGD		DNA:amplification	PMID:8064891|REF_RGD_ID:2291877
8819659	Wnt2	Wnt family member 2	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:736431	D	RGD:9068941	20200609	RGD		associated with hepatitis B;DNA:SNP: :rs4730775(human)	PMID:28328801|REF_RGD_ID:14402040
8819659	Wnt2	Wnt family member 2	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:736431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25061499
8819659	Wnt2	Wnt family member 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:736431	D	RGD:9068941	20200609	RGD		in vitro transformation of transfected C57MG mammary epithelial cell line	PMID:8065359|PMID:9419423|REF_RGD_ID:2298848|REF_RGD_ID:2298863
8819659	Wnt2	Wnt family member 2	gene	DOID:9006947	Fibroadenoma		ISO	RGD:736431	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:8168088|REF_RGD_ID:2291878
8819659	Wnt2	Wnt family member 2	gene	DOID:9007090	Experimental Seizures		ISO	RGD:621346	D	RGD:9068941	20241214	RGD		mRNA:increased expression:hippocampus	PMID:14625142|REF_RGD_ID:2326231
8819669	Ccdc127	coiled-coil domain containing 127	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8819669	Ccdc127	coiled-coil domain containing 127	gene	DOID:5041	esophageal cancer		ISO	RGD:1603363	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8819669	Ccdc127	coiled-coil domain containing 127	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819676	Tsc22d3	TSC22 domain family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8819676	Tsc22d3	TSC22 domain family member 3	gene	DOID:0080600	COVID-19		ISO	RGD:1605734	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
8819676	Tsc22d3	TSC22 domain family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1605734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8819676	Tsc22d3	TSC22 domain family member 3	gene	DOID:12336	male infertility		ISO	RGD:1605734	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22556341
8819676	Tsc22d3	TSC22 domain family member 3	gene	DOID:2018	hyperinsulinism		ISO	RGD:1605734	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22556341
8819676	Tsc22d3	TSC22 domain family member 3	gene	DOID:2519	testicular disease		ISO	RGD:1605734	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22556341
8819676	Tsc22d3	TSC22 domain family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819676	Tsc22d3	TSC22 domain family member 3	gene	DOID:9001981	Weight Loss		ISO	RGD:1605734	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22556341
8819676	Tsc22d3	TSC22 domain family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819676	Tsc22d3	TSC22 domain family member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8819699	Dcun1d5	defective in cullin neddylation 1 domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1601949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8819699	Dcun1d5	defective in cullin neddylation 1 domain containing 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8819699	Dcun1d5	defective in cullin neddylation 1 domain containing 5	gene	DOID:3275	thymoma		ISO	RGD:1601949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8819699	Dcun1d5	defective in cullin neddylation 1 domain containing 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8819699	Dcun1d5	defective in cullin neddylation 1 domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819699	Dcun1d5	defective in cullin neddylation 1 domain containing 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8819723	Fer1l5	fer-1 like family member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1625097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8819723	Fer1l5	fer-1 like family member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1625097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8819723	Fer1l5	fer-1 like family member 5	gene	DOID:3275	thymoma		ISO	RGD:1625097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8819723	Fer1l5	fer-1 like family member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1625097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819723	Fer1l5	fer-1 like family member 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1625097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8819723	Fer1l5	fer-1 like family member 5	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1625097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8819723	Fer1l5	fer-1 like family member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1625097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819723	Fer1l5	fer-1 like family member 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1625097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8819788	Lmod1	leiomodin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8819788	Lmod1	leiomodin 1	gene	DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome		ISO	RGD:1316309	D	RGD:9068941	20260521	MouseDO		OMIM:155310	
8819788	Lmod1	leiomodin 1	gene	DOID:0080072	intestinal pseudo-obstruction		ISO	RGD:1316308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intestinal pseudo-obstruction	
8819788	Lmod1	leiomodin 1	gene	DOID:289	endometriosis		ISO	RGD:1316308	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
8819788	Lmod1	leiomodin 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1316308	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28530674
8819788	Lmod1	leiomodin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819788	Lmod1	leiomodin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8819788	Lmod1	leiomodin 1	gene	DOID:9000807	Megaduodenum		ISO	RGD:1316308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal megacystis	PMID:28292896
8819788	Lmod1	leiomodin 1	gene	DOID:9003331	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3		ISO	RGD:1316308	D	RGD:7240710	20210616	OMIM			
8819788	Lmod1	leiomodin 1	gene	DOID:9003331	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3		ISO	RGD:1316308	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3	PMID:25741868|PMID:28292896
8819788	Lmod1	leiomodin 1	gene	DOID:9003908	Microcolon		ISO	RGD:1316308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcolon	PMID:28292896
8819788	Lmod1	leiomodin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28292896
8819795	Rapgefl1	Rap guanine nucleotide exchange factor like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8819795	Rapgefl1	Rap guanine nucleotide exchange factor like 1	gene	DOID:0090063	familial cold autoinflammatory syndrome 2		ISO	RGD:1347798	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2	
8819795	Rapgefl1	Rap guanine nucleotide exchange factor like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1347798	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
8819795	Rapgefl1	Rap guanine nucleotide exchange factor like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8819795	Rapgefl1	Rap guanine nucleotide exchange factor like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8819795	Rapgefl1	Rap guanine nucleotide exchange factor like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819795	Rapgefl1	Rap guanine nucleotide exchange factor like 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1347798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8819795	Rapgefl1	Rap guanine nucleotide exchange factor like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8819818	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8819818	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1319891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
8819818	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:14227	azoospermia		ISO	RGD:1551284	D	RGD:9068941	20220825	MouseDO		OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842	
8819818	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:14330	Parkinson's disease	disease_progression	ISO	RGD:1309512	D	RGD:9068941	20250424	RGD			PMID:33571554|REF_RGD_ID:598148160
8819818	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:14330	Parkinson's disease	exacerbates	ISO	RGD:1309512	D	RGD:9068941	20250424	RGD			PMID:33571554|REF_RGD_ID:598148160
8819818	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:1826	epilepsy		ISO	RGD:1319891	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Epilepsy	
8819818	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:1909	melanoma		ISO	RGD:1319891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
8819818	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:4362	cervical cancer		ISO	RGD:1319891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8819818	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819818	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319891	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8819818	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8819818	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819818	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:9256	colorectal cancer		ISO	RGD:1319891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8819832	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1602075	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:25741868
8819832	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:10534	stomach cancer		ISO	RGD:1602075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8819832	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:1115	sarcoma		ISO	RGD:1602075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8819832	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:3275	thymoma		ISO	RGD:1602075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8819832	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:4362	cervical cancer		ISO	RGD:1602075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8819832	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:5041	esophageal cancer		ISO	RGD:1602075	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8819832	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8819832	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819832	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8819832	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819832	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8819848	Usp24	ubiquitin specific peptidase 24	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8819848	Usp24	ubiquitin specific peptidase 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8819848	Usp24	ubiquitin specific peptidase 24	gene	DOID:0060058	lymphoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8819848	Usp24	ubiquitin specific peptidase 24	gene	DOID:10534	stomach cancer		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8819848	Usp24	ubiquitin specific peptidase 24	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8819848	Usp24	ubiquitin specific peptidase 24	gene	DOID:1115	sarcoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8819848	Usp24	ubiquitin specific peptidase 24	gene	DOID:1909	melanoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8819848	Usp24	ubiquitin specific peptidase 24	gene	DOID:2394	ovarian cancer		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8819848	Usp24	ubiquitin specific peptidase 24	gene	DOID:3275	thymoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8819848	Usp24	ubiquitin specific peptidase 24	gene	DOID:4362	cervical cancer		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8819848	Usp24	ubiquitin specific peptidase 24	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8819848	Usp24	ubiquitin specific peptidase 24	gene	DOID:5041	esophageal cancer		ISO	RGD:1315618	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8819848	Usp24	ubiquitin specific peptidase 24	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8819848	Usp24	ubiquitin specific peptidase 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819848	Usp24	ubiquitin specific peptidase 24	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8819848	Usp24	ubiquitin specific peptidase 24	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8819848	Usp24	ubiquitin specific peptidase 24	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8819848	Usp24	ubiquitin specific peptidase 24	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8819848	Usp24	ubiquitin specific peptidase 24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819848	Usp24	ubiquitin specific peptidase 24	gene	DOID:9007661	Dwarfism		ISO	RGD:1315618	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
8819848	Usp24	ubiquitin specific peptidase 24	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8819848	Usp24	ubiquitin specific peptidase 24	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8819921	Agpat5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8819921	Agpat5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8819921	Agpat5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:1324	lung cancer		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8819921	Agpat5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
8819921	Agpat5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8819921	Agpat5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8819921	Agpat5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8819921	Agpat5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819921	Agpat5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:9000058	Keloid		ISO	RGD:1347516	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Keloid formation	PMID:28905881
8819921	Agpat5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8819921	Agpat5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8819933	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:0080006	bone development disease		ISO	RGD:1317220	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17567669
8819933	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8819933	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1317220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8819933	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1317220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8819933	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1317220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8819933	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8819933	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819933	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8819933	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819933	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1317220	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17567669
8819933	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8819933	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8819946	Naa40	N-alpha-acetyltransferase 40, NatD catalytic subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8819946	Naa40	N-alpha-acetyltransferase 40, NatD catalytic subunit	gene	DOID:1115	sarcoma		ISO	RGD:1602685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8819946	Naa40	N-alpha-acetyltransferase 40, NatD catalytic subunit	gene	DOID:1909	melanoma		ISO	RGD:1602685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8819946	Naa40	N-alpha-acetyltransferase 40, NatD catalytic subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819946	Naa40	N-alpha-acetyltransferase 40, NatD catalytic subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8819958	Hopx	HOP homeobox	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8819958	Hopx	HOP homeobox	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8819958	Hopx	HOP homeobox	gene	DOID:0060058	lymphoma		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8819958	Hopx	HOP homeobox	gene	DOID:10534	stomach cancer		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8819958	Hopx	HOP homeobox	gene	DOID:1115	sarcoma		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8819958	Hopx	HOP homeobox	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1603377	D	RGD:9068941	20230824	RGD		mRNA:decreased expression:left ventricle	PMID:12920479|REF_RGD_ID:401793745
8819958	Hopx	HOP homeobox	gene	DOID:2394	ovarian cancer		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8819958	Hopx	HOP homeobox	gene	DOID:3275	thymoma		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8819958	Hopx	HOP homeobox	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8819958	Hopx	HOP homeobox	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819958	Hopx	HOP homeobox	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603377	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8819958	Hopx	HOP homeobox	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8819958	Hopx	HOP homeobox	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819958	Hopx	HOP homeobox	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8819958	Hopx	HOP homeobox	gene	DOID:9256	colorectal cancer		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8819963	Galnt6	polypeptide N-acetylgalactosaminyltransferase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8819963	Galnt6	polypeptide N-acetylgalactosaminyltransferase 6	gene	DOID:10534	stomach cancer		ISO	RGD:1321517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8819963	Galnt6	polypeptide N-acetylgalactosaminyltransferase 6	gene	DOID:4362	cervical cancer		ISO	RGD:1321517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8819963	Galnt6	polypeptide N-acetylgalactosaminyltransferase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8819963	Galnt6	polypeptide N-acetylgalactosaminyltransferase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8819983	Mgll	monoglyceride lipase	gene	DOID:0050741	alcohol dependence		ISO	RGD:71039	D	RGD:9068941	20250531	RGD		mRNA:increased expression:prefrontal cortex (rat)	PMID:34965406|REF_RGD_ID:616363144
8819983	Mgll	monoglyceride lipase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8819983	Mgll	monoglyceride lipase	gene	DOID:11476	osteoporosis		ISO	RGD:734078	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
8819983	Mgll	monoglyceride lipase	gene	DOID:1574	alcohol use disorder		ISO	RGD:71039	D	RGD:9068941	20250529	RGD		mRNA:increased expression:hippocampus	PMID:32057593|REF_RGD_ID:405096486
8819983	Mgll	monoglyceride lipase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8819983	Mgll	monoglyceride lipase	gene	DOID:4362	cervical cancer		ISO	RGD:734078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8819983	Mgll	monoglyceride lipase	gene	DOID:5082	liver cirrhosis		ISO	RGD:734078	D	RGD:9068941	20201218	CTD		CTD Direct Evidence: therapeutic	PMID:30301768
8819983	Mgll	monoglyceride lipase	gene	DOID:9975	cocaine dependence		ISO	RGD:71039	D	RGD:9068941	20250531	RGD		mRNA:increased expression:prefrontal cortex (rat)	PMID:34965406|REF_RGD_ID:616363144
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:0050632	oculocutaneous albinism		ISO	RGD:1315453	D	RGD:9068941	20260604	MouseDO		OMIM:203100 | OMIM:203200 | OMIM:203290 | OMIM:606574 | OMIM:606952 | OMIM:614473 | OMIM:615312	
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:0050633	ocular albinism 1		ISO	RGD:1315452	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ocular albinism	PMID:14961451|PMID:24096233|PMID:25741868|PMID:27734839|PMID:28492532|PMID:28976636|PMID:29345414|PMID:36553465|PMID:39315505
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:0070098	oculocutaneous albinism type IV		ISO	RGD:1315452	D	RGD:7240710	20180130	OMIM			
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:0070098	oculocutaneous albinism type IV		ISO	RGD:1315452	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Albinism, oculocutaneous, type IV | ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE IV | ClinVar Annotator: match by term: Oculocutaneous albinism type 4 | ClinVar Annotator: match by term: SLC45A2-related condition | ClinVar Annotator: match by term: oculocutaneous albinism type 4	PMID:14722913|PMID:14961451|PMID:15565285|PMID:16868655|PMID:16965274|PMID:17044855|PMID:17768386|PMID:18463683|PMID:19220778|PMID:19865097|PMID:20301683|PMID:21287499|PMID:21458243|PMID:22042571|PMID:23165166|PMID:23504663|PMID:24096233|PMID:24617981|PMID:24845642|PMID:25326637|PMID:25741868|PMID:26573111|PMID:26818737|PMID:27019209|PMID:27706749|PMID:27734839|PMID:28457509|PMID:28492532|PMID:28976636|PMID:29345414|PMID:30019506|PMID:31077556|PMID:31229681|PMID:31589614|PMID:32552135|PMID:34078970|PMID:34838614|PMID:34897530|PMID:36553465|PMID:37327787|PMID:38337174|PMID:38720644|PMID:39315505
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:0080980	arthrogryposis multiplex congenita-4		ISO	RGD:12064380	D	RGD:9068941	20250717	OMIA		Coat colour, albinism, oculocutaneous type IV	PMID:24647637|PMID:25790827|PMID:28737247|PMID:34751460|PMID:34861369|PMID:35510419|PMID:37277858|PMID:37582787
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1315452	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:24096233|PMID:25741868|PMID:27734839|PMID:28492532|PMID:28976636|PMID:36553465|PMID:39315505
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:1059	intellectual disability		ISO	RGD:1315452	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:14961451|PMID:24096233|PMID:25741868|PMID:27734839|PMID:28492532|PMID:28976636|PMID:29345414|PMID:36553465|PMID:39315505
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1315452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19578363
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:1909	melanoma		ISO	RGD:1315452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18563784|PMID:21559390
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1315452	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:28492532|PMID:29345414|PMID:36553465
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1315452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19578363
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:303	substance-related disorder		ISO	RGD:1315452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1315452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:18463683|PMID:21458243|PMID:23504663|PMID:25741868|PMID:26573111|PMID:28492532
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:630	genetic disease		ISO	RGD:1315452	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24096233|PMID:25741868|PMID:27734839|PMID:28492532|PMID:28976636|PMID:34838614|PMID:36553465|PMID:39315505
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:9001386	Albinism		ISO	RGD:1315452	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Albinism	PMID:14961451|PMID:24096233|PMID:25741868|PMID:27734839|PMID:28492532|PMID:28976636|PMID:29345414|PMID:36553465|PMID:39315505
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:9001923	Foveal Hypoplasia		ISO	RGD:1315452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: foveal hypoplasia	PMID:25741868
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:9001981	Weight Loss		ISO	RGD:1315452	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:25741868
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:9004898	Jaundice		ISO	RGD:1315452	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:25741868
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1315452	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315452	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:14961451|PMID:24096233|PMID:25741868|PMID:27734839|PMID:28492532|PMID:28976636|PMID:29345414|PMID:36553465|PMID:39315505
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:9006017	Skin/Hair/Eye Pigmentation, Variation In, 5		ISO	RGD:1315452	D	RGD:7240710	20200506	OMIM			
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:9006017	Skin/Hair/Eye Pigmentation, Variation In, 5		ISO	RGD:1315452	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 5, DARK/LIGHT EYES | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 5	PMID:14961451|PMID:18463683|PMID:21458243|PMID:23504663|PMID:24096233|PMID:25326637|PMID:25741868|PMID:26573111|PMID:26818737|PMID:27734839|PMID:28492532|PMID:28976636|PMID:29345414|PMID:31077556|PMID:34838614|PMID:36553465|PMID:39315505
8820002	Slc45a2	solute carrier family 45 member 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1315452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pendular nystagmus	PMID:25741868|PMID:27734839|PMID:28492532|PMID:34838614
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:732184	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:21714643|PMID:21727188|PMID:22847544|PMID:25367169|PMID:25741868|PMID:26242301|PMID:26604104|PMID:28258222|PMID:28492532
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:28492532|PMID:30030262
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:0060058	lymphoma		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:0080162	lupus nephritis		ISO	RGD:732184	D	RGD:9068941	20220210	CTD		CTD Direct Evidence: marker/mechanism	PMID:31182691
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:0080600	COVID-19		ISO	RGD:732184	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:0111944	immunodeficiency 31B		ISO	RGD:732184	D	RGD:7240710	20180130	OMIM			
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:0111944	immunodeficiency 31B		ISO	RGD:732184	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 31B | ClinVar Annotator: match by term: IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Immunodeficiency 31B	PMID:12590259|PMID:17576681|PMID:21714643|PMID:21727188|PMID:21772053|PMID:22195034|PMID:22651901|PMID:22847544|PMID:23541320|PMID:23709754|PMID:24033266|PMID:24343863|PMID:25326637|PMID:25367169|PMID:25741868|PMID:26242301|PMID:26255980|PMID:26479788|PMID:26494717|PMID:26604104|PMID:26621323|PMID:27114460|PMID:28161409|PMID:28258222|PMID:28427548|PMID:28492532|PMID:28753426|PMID:28815025|PMID:30030262|PMID:32603902|PMID:33839590|PMID:35456913|PMID:9536098
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:0111945	immunodeficiency 31A		ISO	RGD:732184	D	RGD:7240710	20180130	OMIM			
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:0111945	immunodeficiency 31A		ISO	RGD:732184	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 31A | ClinVar Annotator: match by term: Immunodeficiency 31a | ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | ClinVar Annotator: match by term: STAT1 DEFICIENCY, AUTOSOMAL DOMINANT	PMID:17576681|PMID:21714643|PMID:21727188|PMID:22195034|PMID:22208278|PMID:22651901|PMID:22847544|PMID:23541320|PMID:23709754|PMID:24033266|PMID:24343863|PMID:25326637|PMID:25367169|PMID:25741868|PMID:26242301|PMID:26255980|PMID:26479788|PMID:26494717|PMID:26604104|PMID:26621323|PMID:26732859|PMID:27114460|PMID:28161409|PMID:28258222|PMID:28427548|PMID:28492532|PMID:28753426|PMID:28815025|PMID:30030262|PMID:32603902|PMID:35960392|PMID:9536098
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:0111946	immunodeficiency 31C		ISO	RGD:732184	D	RGD:7240710	20180130	OMIM			
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:0111946	immunodeficiency 31C		ISO	RGD:732184	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | ClinVar Annotator: match by term: IMMUNODEFICIENCY 31C | ClinVar Annotator: match by term: Immunodeficiency 31C | ClinVar Annotator: match by term: Immunodeficiency 31C, autosomal dominant	PMID:16199547|PMID:17576681|PMID:21714643|PMID:21727188|PMID:22195034|PMID:22651901|PMID:22847544|PMID:23245795|PMID:23403048|PMID:23541320|PMID:23585529|PMID:23709754|PMID:24033266|PMID:24188975|PMID:24239102|PMID:24343863|PMID:25042743|PMID:25326637|PMID:25367169|PMID:25662309|PMID:25741868|PMID:26242301|PMID:26255980|PMID:26467763|PMID:26479788|PMID:26494717|PMID:26604104|PMID:26621323|PMID:26732859|PMID:26743090|PMID:26948078|PMID:27063510|PMID:27114460|PMID:27146670|PMID:27808400|PMID:28011069|PMID:28161409|PMID:28258222|PMID:28367431|PMID:28427548|PMID:28492532|PMID:28601685|PMID:28622416|PMID:28753426|PMID:28815025|PMID:28859974|PMID:29111217|PMID:29317535|PMID:30030262|PMID:30131873|PMID:30442829|PMID:31114772|PMID:31354696|PMID:31362757|PMID:31367980|PMID:31448411|PMID:31677808|PMID:31686315|PMID:32506361|PMID:32582194|PMID:32603902|PMID:32888943|PMID:33096415|PMID:33225392|PMID:33679782|PMID:34093558|PMID:34114647|PMID:34134972|PMID:34619682|PMID:34718945|PMID:34738677|PMID:35126392|PMID:35470942|PMID:35482138|PMID:35486339|PMID:35976469|PMID:36336768|PMID:36630059|PMID:38578354|PMID:38758476|PMID:9536098
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:0111962	combined immunodeficiency		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency	PMID:25741868
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:10534	stomach cancer		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:1115	sarcoma		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:11162	respiratory failure		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:11830	myopia		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:12155	lymphocytic choriomeningitis	exacerbates	ISO	RGD:732185	D	RGD:9068941	20210326	RGD			PMID:22496215|REF_RGD_ID:124715469
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:13074	tinea unguium		ISO	RGD:732184	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tinea unguium	PMID:21714643|PMID:21727188|PMID:22847544|PMID:25367169|PMID:25741868|PMID:26242301|PMID:26604104|PMID:28258222|PMID:28492532
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:1324	lung cancer		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:26938784|PMID:27117246|PMID:28492532|PMID:30030262
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:1596	depressive disorder		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:1612	breast cancer		ISO	RGD:732185	D	RGD:9068941	20220825	MouseDO		OMIM:114480	
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:732184	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:17868458|REF_RGD_ID:2291892
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28492532
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:1826	epilepsy		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532|PMID:30030262
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:1883	hepatitis C		ISO	RGD:732184	D	RGD:9068941	20210326	RGD		protein:increased expression:liver	PMID:26216956|REF_RGD_ID:11074283
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:1909	melanoma		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:2030	anxiety disorder		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:2058	chronic mucocutaneous candidiasis		ISO	RGD:732184	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis	PMID:21714643|PMID:21727188|PMID:22847544|PMID:23541320|PMID:23709754|PMID:24033266|PMID:24343863|PMID:25367169|PMID:25741868|PMID:26242301|PMID:26255980|PMID:26494717|PMID:26604104|PMID:28161409|PMID:28258222|PMID:28427548|PMID:28492532|PMID:28815025
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:2154	nephroblastoma		ISO	RGD:732184	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:kidney	PMID:16799645|REF_RGD_ID:2291893
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:2526	prostate adenocarcinoma	disease_progression	ISO	RGD:732184	D	RGD:9068941	20200609	RGD		protein:increased activity:prostate	PMID:9748134|REF_RGD_ID:2290484
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:2841	asthma		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:732185	D	RGD:9068941	20220825	MouseDO			
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:3070	high grade glioma		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:3301	gonadoblastoma		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gonadoblastoma	PMID:28492532|PMID:30030262
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:3314	angiomyolipoma		ISO	RGD:732184	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:kidney	PMID:15994429|REF_RGD_ID:2298537
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:3319	lymphangioleiomyomatosis		ISO	RGD:732184	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:lung	PMID:15994429|REF_RGD_ID:2298537
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:732184	D	RGD:9068941	20200609	RGD		protein:increased activity:breast	PMID:12374673|REF_RGD_ID:2291894
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:3717	gastric adenocarcinoma	exacerbates	ISO	RGD:732184	D	RGD:9068941	20220729	RGD		mRNA:increased expression:stomach (human)	PMID:33042401|REF_RGD_ID:153298934
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:3771	D	RGD:9068941	20200609	RGD			PMID:16806015|REF_RGD_ID:1600092
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:399	tuberculosis		ISO	RGD:732184	D	RGD:9068941	20260226	RGD		DNA:SNP:intron:rs2280234	PMID:17284226|REF_RGD_ID:632527151
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:4074	pancreatic adenocarcinoma	ameliorates	ISO	RGD:732184	D	RGD:9068941	20221027	RGD		protein:increased expression:pancreas (human)	PMID:24658320|REF_RGD_ID:155630608
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:4362	cervical cancer		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:4483	rhinitis		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhinitis	PMID:21714643|PMID:21727188|PMID:23541320|PMID:23709754|PMID:24033266|PMID:24343863|PMID:25741868|PMID:26255980|PMID:26494717|PMID:26604104|PMID:28161409|PMID:28427548|PMID:28492532|PMID:28815025
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:5041	esophageal cancer		ISO	RGD:732184	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:732184	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17133483
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:5434	scrapie		ISO	RGD:732185	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:17897356|REF_RGD_ID:6483034
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:552	pneumonia		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:21714643|PMID:21727188|PMID:23541320|PMID:23709754|PMID:24033266|PMID:24343863|PMID:25741868|PMID:26255980|PMID:26494717|PMID:26604104|PMID:28161409|PMID:28427548|PMID:28492532|PMID:28815025
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:732184	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23471820
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:732184	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:22730530|PMID:23534974|PMID:23541320|PMID:23709754|PMID:24239102|PMID:25042743|PMID:25741868|PMID:26604104|PMID:26743090|PMID:27379765|PMID:27577878|PMID:28492532|PMID:28597685|PMID:34390440
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:630	genetic disease		ISO	RGD:732184	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24343863|PMID:25741868|PMID:26479788|PMID:27114460|PMID:28492532|PMID:28753426|PMID:30030262
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:732184	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12833524
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:824	periodontitis	treatment	ISO	RGD:732185	D	RGD:9068941	20200609	RGD			PMID:26825585|REF_RGD_ID:18936995
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9000918	Disease Progression		ISO	RGD:732184	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22488367
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:732184	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29147627
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:3771	D	RGD:9068941	20200609	RGD			PMID:21596098|REF_RGD_ID:6483023
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9001415	Mycobacterium Infections		ISO	RGD:732184	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11452125
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9001488	Human Influenza		ISO	RGD:732184	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9001733	Tinnitus		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:3771	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:macrophage, synovial cell	PMID:14674010|REF_RGD_ID:1582346
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:732184	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15188379
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:732185	D	RGD:9068941	20200609	RGD			PMID:22066025|REF_RGD_ID:6483041
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9002865	Neonatal Hemochromatosis		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Giant cell hepatitis	PMID:28492532|PMID:30030262
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3771	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:kidney	PMID:17670769|REF_RGD_ID:2291900
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3771	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:brain	PMID:15262323|REF_RGD_ID:1600103
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9004484	Sepsis		ISO	RGD:3771	D	RGD:9068941	20200609	RGD		protein:increased activity:liver, lung, small intestine	PMID:17067487|REF_RGD_ID:2291905
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9004729	Nontuberculous Mycobacterium Infections	susceptibility	ISO	RGD:732184	D	RGD:9068941	20200609	RGD		DNA:transition: ; 2116T>C	PMID:11452125|REF_RGD_ID:1600087
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:732185	D	RGD:9068941	20200609	RGD			PMID:11325527|REF_RGD_ID:2291895
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3771	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:glomerulus	PMID:14678947|REF_RGD_ID:1600105
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9006062	Nervous System Trauma		ISO	RGD:3771	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:ganglion	PMID:17097800|REF_RGD_ID:1600090
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9006262	Cytomegalovirus Infections		ISO	RGD:732184	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16688530
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9006487	Reoviridae Infections		ISO	RGD:732185	D	RGD:9068941	20200609	RGD			PMID:17849321|REF_RGD_ID:6483036
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9007722	Myoclonus		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868|PMID:28492532
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9007736	Vertigo		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:3771	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:heart	PMID:16935931|REF_RGD_ID:1600091
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9256	colorectal cancer		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9423	blepharitis		ISO	RGD:732184	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Blepharitis	PMID:21714643|PMID:21727188|PMID:22847544|PMID:25367169|PMID:25741868|PMID:26242301|PMID:26604104|PMID:28258222|PMID:28492532
8820018	Stat1	signal transducer and activator of transcription 1	gene	DOID:9970	obesity		ISO	RGD:732184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
8820048	Fbh1	F-box DNA helicase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8820048	Fbh1	F-box DNA helicase 1	gene	DOID:10283	prostate cancer		ISO	RGD:1314839	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8820048	Fbh1	F-box DNA helicase 1	gene	DOID:10283	prostate cancer		ISO	RGD:1314839	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8820048	Fbh1	F-box DNA helicase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8820048	Fbh1	F-box DNA helicase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8820048	Fbh1	F-box DNA helicase 1	gene	DOID:1115	sarcoma		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8820048	Fbh1	F-box DNA helicase 1	gene	DOID:1324	lung cancer		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8820048	Fbh1	F-box DNA helicase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8820048	Fbh1	F-box DNA helicase 1	gene	DOID:3275	thymoma		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8820048	Fbh1	F-box DNA helicase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8820048	Fbh1	F-box DNA helicase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314839	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8820048	Fbh1	F-box DNA helicase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8820048	Fbh1	F-box DNA helicase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820048	Fbh1	F-box DNA helicase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8820048	Fbh1	F-box DNA helicase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8820048	Fbh1	F-box DNA helicase 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8820048	Fbh1	F-box DNA helicase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8820048	Fbh1	F-box DNA helicase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8820048	Fbh1	F-box DNA helicase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8820091	Ptprg	protein tyrosine phosphatase receptor type G	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8820091	Ptprg	protein tyrosine phosphatase receptor type G	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8820091	Ptprg	protein tyrosine phosphatase receptor type G	gene	DOID:0060058	lymphoma		ISO	RGD:735532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8820091	Ptprg	protein tyrosine phosphatase receptor type G	gene	DOID:10534	stomach cancer		ISO	RGD:735532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8820091	Ptprg	protein tyrosine phosphatase receptor type G	gene	DOID:1324	lung cancer		ISO	RGD:735532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8820091	Ptprg	protein tyrosine phosphatase receptor type G	gene	DOID:1909	melanoma		ISO	RGD:735532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8820091	Ptprg	protein tyrosine phosphatase receptor type G	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:735532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8820091	Ptprg	protein tyrosine phosphatase receptor type G	gene	DOID:4362	cervical cancer		ISO	RGD:735532	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8820091	Ptprg	protein tyrosine phosphatase receptor type G	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8820091	Ptprg	protein tyrosine phosphatase receptor type G	gene	DOID:5041	esophageal cancer		ISO	RGD:735532	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8820091	Ptprg	protein tyrosine phosphatase receptor type G	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820091	Ptprg	protein tyrosine phosphatase receptor type G	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8820091	Ptprg	protein tyrosine phosphatase receptor type G	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:735532	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17963294
8820091	Ptprg	protein tyrosine phosphatase receptor type G	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8820121	Tgm7	transglutaminase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820137	Spock1	SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8820137	Spock1	SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1	gene	DOID:10907	microcephaly		ISO	RGD:1322984	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8820137	Spock1	SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1	gene	DOID:1115	sarcoma		ISO	RGD:1322984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8820137	Spock1	SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8820137	Spock1	SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8820137	Spock1	SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820137	Spock1	SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8820137	Spock1	SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1322984	D	RGD:9068941	20220825	RGD		human cells in mouse model	PMID:30710422|REF_RGD_ID:153344549
8820137	Spock1	SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1322984	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17929269
8820137	Spock1	SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8820137	Spock1	SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8820151	Cgrrf1	cell growth regulator with ring finger domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8820151	Cgrrf1	cell growth regulator with ring finger domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820151	Cgrrf1	cell growth regulator with ring finger domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8820151	Cgrrf1	cell growth regulator with ring finger domain 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8820173	Gtf3c5	general transcription factor IIIC subunit 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8820173	Gtf3c5	general transcription factor IIIC subunit 5	gene	DOID:0051044	infantile-onset myofibrillar myopathy 12 with cardiomyopathy		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy	PMID:25741868
8820173	Gtf3c5	general transcription factor IIIC subunit 5	gene	DOID:10534	stomach cancer		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8820173	Gtf3c5	general transcription factor IIIC subunit 5	gene	DOID:1324	lung cancer		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8820173	Gtf3c5	general transcription factor IIIC subunit 5	gene	DOID:4362	cervical cancer		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8820173	Gtf3c5	general transcription factor IIIC subunit 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820173	Gtf3c5	general transcription factor IIIC subunit 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8820173	Gtf3c5	general transcription factor IIIC subunit 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8820198	Ppfia4	PPFI scaffold protein A4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8820198	Ppfia4	PPFI scaffold protein A4	gene	DOID:0060224	atrial fibrillation		ISO	RGD:737078	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28416822|PMID:29892015|PMID:30061737
8820198	Ppfia4	PPFI scaffold protein A4	gene	DOID:1115	sarcoma		ISO	RGD:737078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8820198	Ppfia4	PPFI scaffold protein A4	gene	DOID:4362	cervical cancer		ISO	RGD:737078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8820198	Ppfia4	PPFI scaffold protein A4	gene	DOID:5041	esophageal cancer		ISO	RGD:737078	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8820198	Ppfia4	PPFI scaffold protein A4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820198	Ppfia4	PPFI scaffold protein A4	gene	DOID:6039	uveal melanoma		ISO	RGD:737078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8820198	Ppfia4	PPFI scaffold protein A4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8820198	Ppfia4	PPFI scaffold protein A4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
8820231	Slc5a1	solute carrier family 5 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
8820231	Slc5a1	solute carrier family 5 member 1	gene	DOID:0070563	glucose-galactose malabsorption		ISO	RGD:732146	D	RGD:7240710	20180130	OMIM			
8820231	Slc5a1	solute carrier family 5 member 1	gene	DOID:0070563	glucose-galactose malabsorption		ISO	RGD:732146	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption | ClinVar Annotator: match by term: GLUCOSE/GALACTOSE MALABSORPTION | ClinVar Annotator: match by term: Glucose/galactose malabsorption | ClinVar Annotator: match by term: MONOSACCHARIDE MALABSORPTION | ClinVar Annotator: match by term: Monosaccharide malabsorption	PMID:10036327|PMID:12139397|PMID:14673631|PMID:16199547|PMID:17576681|PMID:17903058|PMID:19167319|PMID:19763152|PMID:2008213|PMID:20307669|PMID:20486940|PMID:22314875|PMID:22406018|PMID:24033266|PMID:24048166|PMID:25741868|PMID:28152538|PMID:28283348|PMID:28492532|PMID:28753187|PMID:30656007|PMID:33567694|PMID:34485913|PMID:34737908|PMID:8563765|PMID:9536098|PMID:9815014
8820231	Slc5a1	solute carrier family 5 member 1	gene	DOID:1324	lung cancer		ISO	RGD:732146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8820231	Slc5a1	solute carrier family 5 member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8820231	Slc5a1	solute carrier family 5 member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
8820231	Slc5a1	solute carrier family 5 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820231	Slc5a1	solute carrier family 5 member 1	gene	DOID:630	genetic disease		ISO	RGD:732146	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8820231	Slc5a1	solute carrier family 5 member 1	gene	DOID:9000351	Diarrhea 9		ISO	RGD:732146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25741868
8820231	Slc5a1	solute carrier family 5 member 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8820231	Slc5a1	solute carrier family 5 member 1	gene	DOID:9002984	Malabsorption Syndromes		ISO	RGD:732146	D	RGD:9068941	20200609	RGD		glucose/galactose malabsorption,OMIM:606824;DNA:point mutation:exon:D28N	PMID:2008213|REF_RGD_ID:1624257
8820231	Slc5a1	solute carrier family 5 member 1	gene	DOID:9005253	Hypernatremia		ISO	RGD:732146	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: hypernatremia	PMID:25741868
8820231	Slc5a1	solute carrier family 5 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8820231	Slc5a1	solute carrier family 5 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8820231	Slc5a1	solute carrier family 5 member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:732146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:24033266|PMID:25741868|PMID:28492532
8820231	Slc5a1	solute carrier family 5 member 1	gene	DOID:9432	renal glycosuria		ISO	RGD:732146	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Renal glucosuria	PMID:25741868
8820256	Atp8a1	ATPase phospholipid transporting 8A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8820256	Atp8a1	ATPase phospholipid transporting 8A1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8820256	Atp8a1	ATPase phospholipid transporting 8A1	gene	DOID:10534	stomach cancer		ISO	RGD:1320053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8820256	Atp8a1	ATPase phospholipid transporting 8A1	gene	DOID:1324	lung cancer		ISO	RGD:1320053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8820256	Atp8a1	ATPase phospholipid transporting 8A1	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1320053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
8820256	Atp8a1	ATPase phospholipid transporting 8A1	gene	DOID:1909	melanoma		ISO	RGD:1320053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8820256	Atp8a1	ATPase phospholipid transporting 8A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320053	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8820256	Atp8a1	ATPase phospholipid transporting 8A1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8820256	Atp8a1	ATPase phospholipid transporting 8A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8820256	Atp8a1	ATPase phospholipid transporting 8A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8820318	Sdad1	SDA1 domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8820318	Sdad1	SDA1 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8820318	Sdad1	SDA1 domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8820318	Sdad1	SDA1 domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8820318	Sdad1	SDA1 domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8820318	Sdad1	SDA1 domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8820318	Sdad1	SDA1 domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8820318	Sdad1	SDA1 domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8820318	Sdad1	SDA1 domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8820318	Sdad1	SDA1 domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353066	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8820318	Sdad1	SDA1 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820318	Sdad1	SDA1 domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353066	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8820318	Sdad1	SDA1 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8820318	Sdad1	SDA1 domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8820318	Sdad1	SDA1 domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8820373	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8820373	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:0080975	intracranial berry aneurysm 12		ISO	RGD:1315930	D	RGD:7240710	20200226	OMIM			
8820373	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:0080975	intracranial berry aneurysm 12		ISO	RGD:1315930	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Aneurysm, intracranial berry, 12 | ClinVar Annotator: match by term: THSD1-related condition	PMID:25741868
8820373	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8820373	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1315930	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8820373	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8820373	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:3627	aortic aneurysm		ISO	RGD:1315930	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm	PMID:25741868|PMID:27895300
8820373	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8820373	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8820373	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820373	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:8725	vascular dementia		ISO	RGD:1315930	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:35307828
8820373	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:9008230	Lymphatic Malformation 13		ISO	RGD:1315930	D	RGD:7240710	20230215	OMIM			
8820373	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:9008230	Lymphatic Malformation 13		ISO	RGD:1315930	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 13 | ClinVar Annotator: match by term: Lymphatic malformation 13	PMID:25741868|PMID:26036949|PMID:33569873
8820373	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-Immune hydrops fetalis	PMID:25741868|PMID:26036949
8820373	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8820387	Znf622	zinc finger protein 622	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8820387	Znf622	zinc finger protein 622	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8820387	Znf622	zinc finger protein 622	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8820387	Znf622	zinc finger protein 622	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8820387	Znf622	zinc finger protein 622	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820387	Znf622	zinc finger protein 622	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8820387	Znf622	zinc finger protein 622	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8820387	Znf622	zinc finger protein 622	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8820387	Znf622	zinc finger protein 622	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8820400	Bag5	BAG cochaperone 5	gene	DOID:0081162	dilated cardiomyopathy 2F		ISO	RGD:1321985	D	RGD:7240710	20220223	OMIM			
8820400	Bag5	BAG cochaperone 5	gene	DOID:0081162	dilated cardiomyopathy 2F		ISO	RGD:1321985	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 2F | ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2F	PMID:25741868|PMID:35044787
8820400	Bag5	BAG cochaperone 5	gene	DOID:14330	Parkinson's disease		ISO	RGD:1321985	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28348719
8820400	Bag5	BAG cochaperone 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820400	Bag5	BAG cochaperone 5	gene	DOID:630	genetic disease		ISO	RGD:1321985	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8820400	Bag5	BAG cochaperone 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8820415	Slc25a15	solute carrier family 25 member 15	gene	DOID:0050720	ornithine translocase deficiency		ISO	RGD:1322973	D	RGD:7240710	20180130	OMIM			
8820415	Slc25a15	solute carrier family 25 member 15	gene	DOID:0050720	ornithine translocase deficiency		ISO	RGD:1322973	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HHH SYNDROME | ClinVar Annotator: match by term: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME | ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | ClinVar Annotator: match by term: Ornithine translocase deficiency	PMID:10369256|PMID:10805333|PMID:11355015|PMID:11552031|PMID:11668643|PMID:12807890|PMID:14759633|PMID:16199547|PMID:16376511|PMID:16601889|PMID:16940241|PMID:17576681|PMID:17825324|PMID:18376250|PMID:18406340|PMID:18978333|PMID:19242930|PMID:19651321|PMID:22292090|PMID:22649802|PMID:23430880|PMID:24473688|PMID:24721342|PMID:25741868|PMID:25818551|PMID:25874378|PMID:26589310|PMID:28492532|PMID:29554876|PMID:30187369|PMID:30243302|PMID:31443672|PMID:31589614|PMID:32214227|PMID:32340404|PMID:33083013|PMID:34683364|PMID:36506307|PMID:39314408|PMID:39519275|PMID:40665309|PMID:41126296|PMID:9536098
8820415	Slc25a15	solute carrier family 25 member 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820415	Slc25a15	solute carrier family 25 member 15	gene	DOID:630	genetic disease		ISO	RGD:1322973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31589614
8820415	Slc25a15	solute carrier family 25 member 15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8820415	Slc25a15	solute carrier family 25 member 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8820415	Slc25a15	solute carrier family 25 member 15	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1322973	D	RGD:9068941	20200609	RGD			PMID:10369256|PMID:10805333|REF_RGD_ID:1599239|REF_RGD_ID:1599240
8820415	Slc25a15	solute carrier family 25 member 15	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:1322973	D	RGD:9068941	20200609	RGD			PMID:10369256|PMID:10805333|REF_RGD_ID:1599239|REF_RGD_ID:1599240
8820415	Slc25a15	solute carrier family 25 member 15	gene	DOID:9273	citrullinemia		ISO	RGD:1322973	D	RGD:9068941	20200609	RGD			PMID:10369256|PMID:10805333|REF_RGD_ID:1599239|REF_RGD_ID:1599240
8820426	CUNH16orf78	chromosome unknown C16orf78 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8820435	Icmt	isoprenylcysteine carboxyl methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8820435	Icmt	isoprenylcysteine carboxyl methyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1603405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8820435	Icmt	isoprenylcysteine carboxyl methyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1603405	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8820435	Icmt	isoprenylcysteine carboxyl methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820454	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8820454	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8820454	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8820454	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8820454	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8820454	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8820454	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:3070	high grade glioma		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8820454	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8820454	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8820454	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820454	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
8820454	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8820454	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8820454	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8820474	Sdhaf1	succinate dehydrogenase complex assembly factor 1	gene	DOID:0060537	mitochondrial complex II deficiency		ISO	RGD:2307455	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Succinate CoQ reductase deficiency	PMID:25741868|PMID:26642834|PMID:26749241|PMID:28492532|PMID:33162331
8820474	Sdhaf1	succinate dehydrogenase complex assembly factor 1	gene	DOID:10579	leukodystrophy		ISO	RGD:2307455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868
8820474	Sdhaf1	succinate dehydrogenase complex assembly factor 1	gene	DOID:630	genetic disease		ISO	RGD:2307455	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8820474	Sdhaf1	succinate dehydrogenase complex assembly factor 1	gene	DOID:8725	vascular dementia		ISO	RGD:2307455	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19465911
8820474	Sdhaf1	succinate dehydrogenase complex assembly factor 1	gene	DOID:9000972	Fever		ISO	RGD:2307455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	PMID:25741868
8820474	Sdhaf1	succinate dehydrogenase complex assembly factor 1	gene	DOID:9003055	Mitochondrial Complex II Deficiency Nuclear Type 1		ISO	RGD:2307455	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1	PMID:25741868|PMID:26642834|PMID:26749241|PMID:28492532|PMID:33162331
8820474	Sdhaf1	succinate dehydrogenase complex assembly factor 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:2307455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
8820474	Sdhaf1	succinate dehydrogenase complex assembly factor 1	gene	DOID:9008405	Mitochondrial Complex II Deficiency Nuclear Type 2		ISO	RGD:2307455	D	RGD:7240710	20210203	OMIM			
8820474	Sdhaf1	succinate dehydrogenase complex assembly factor 1	gene	DOID:9008405	Mitochondrial Complex II Deficiency Nuclear Type 2		ISO	RGD:2307455	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2 | ClinVar Annotator: match by term: SDHAF1-related condition	PMID:19465911|PMID:22995659|PMID:25741868|PMID:26642834|PMID:26749241|PMID:28492532|PMID:33162331
8820497	Tmem191c	transmembrane protein 191C	gene	DOID:3275	thymoma		ISO	RGD:1641960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8820497	Tmem191c	transmembrane protein 191C	gene	DOID:5041	esophageal cancer		ISO	RGD:1641960	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8820497	Tmem191c	transmembrane protein 191C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1641960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820507	Nhsl1	NHS like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8820507	Nhsl1	NHS like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8820507	Nhsl1	NHS like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8820507	Nhsl1	NHS like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820507	Nhsl1	NHS like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8820526	Treml2	triggering receptor expressed on myeloid cells like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8820526	Treml2	triggering receptor expressed on myeloid cells like 2	gene	DOID:3275	thymoma		ISO	RGD:1353340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8820526	Treml2	triggering receptor expressed on myeloid cells like 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8820526	Treml2	triggering receptor expressed on myeloid cells like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8820553	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8820553	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1314542	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	
8820553	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:1059	intellectual disability		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8820553	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:10907	microcephaly		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
8820553	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:1115	sarcoma		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8820553	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:1909	melanoma		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8820553	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8820553	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8820553	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820553	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8820553	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8820553	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay	
8820553	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8820553	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8820553	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:9256	colorectal cancer		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8820578	Cfap100	cilia and flagella associated protein 100	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602811	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8820578	Cfap100	cilia and flagella associated protein 100	gene	DOID:10534	stomach cancer		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8820578	Cfap100	cilia and flagella associated protein 100	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8820578	Cfap100	cilia and flagella associated protein 100	gene	DOID:1115	sarcoma		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8820578	Cfap100	cilia and flagella associated protein 100	gene	DOID:3275	thymoma		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8820578	Cfap100	cilia and flagella associated protein 100	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8820578	Cfap100	cilia and flagella associated protein 100	gene	DOID:4362	cervical cancer		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8820578	Cfap100	cilia and flagella associated protein 100	gene	DOID:5041	esophageal cancer		ISO	RGD:1602811	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8820578	Cfap100	cilia and flagella associated protein 100	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820578	Cfap100	cilia and flagella associated protein 100	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8820600	Fyb1	FYN binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8820600	Fyb1	FYN binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
8820600	Fyb1	FYN binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8820600	Fyb1	FYN binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
8820600	Fyb1	FYN binding protein 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1603714	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
8820600	Fyb1	FYN binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8820600	Fyb1	FYN binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
8820600	Fyb1	FYN binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603714	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8820600	Fyb1	FYN binding protein 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868
8820600	Fyb1	FYN binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8820600	Fyb1	FYN binding protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8820600	Fyb1	FYN binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8820600	Fyb1	FYN binding protein 1	gene	DOID:9002574	Thrombocytopenia 3		ISO	RGD:1603714	D	RGD:7240710	20190315	OMIM			
8820600	Fyb1	FYN binding protein 1	gene	DOID:9002574	Thrombocytopenia 3		ISO	RGD:1603714	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FYB1-related condition | ClinVar Annotator: match by term: THROMBOCYTOPENIA 3 | ClinVar Annotator: match by term: Thrombocytopenia 3	PMID:25741868|PMID:28748566
8820600	Fyb1	FYN binding protein 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868
8820600	Fyb1	FYN binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8820600	Fyb1	FYN binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8820600	Fyb1	FYN binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
8820626	Ptprq	protein tyrosine phosphatase receptor type Q	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1345897	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:25741868|PMID:30311386
8820626	Ptprq	protein tyrosine phosphatase receptor type Q	gene	DOID:0080269	autosomal dominant nonsyndromic deafness 73		ISO	RGD:1345897	D	RGD:7240710	20190315	OMIM			
8820626	Ptprq	protein tyrosine phosphatase receptor type Q	gene	DOID:0080269	autosomal dominant nonsyndromic deafness 73		ISO	RGD:1345897	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal dominant 73 | ClinVar Annotator: match by term: PTPRQ-related condition	PMID:25741868|PMID:26969326|PMID:30311386|PMID:34515852
8820626	Ptprq	protein tyrosine phosphatase receptor type Q	gene	DOID:0110529	autosomal recessive nonsyndromic deafness 84A		ISO	RGD:1345897	D	RGD:7240710	20180130	OMIM			
8820626	Ptprq	protein tyrosine phosphatase receptor type Q	gene	DOID:0110529	autosomal recessive nonsyndromic deafness 84A		ISO	RGD:1345897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION	PMID:20346435|PMID:25557914|PMID:25741868|PMID:29309402|PMID:30311386|PMID:31655630|PMID:33229591|PMID:33478437
8820626	Ptprq	protein tyrosine phosphatase receptor type Q	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1345897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Progressive sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:37811145
8820626	Ptprq	protein tyrosine phosphatase receptor type Q	gene	DOID:13757	excessive tearing		ISO	RGD:1345897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epiphora	
8820626	Ptprq	protein tyrosine phosphatase receptor type Q	gene	DOID:4362	cervical cancer		ISO	RGD:1345897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8820626	Ptprq	protein tyrosine phosphatase receptor type Q	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8820626	Ptprq	protein tyrosine phosphatase receptor type Q	gene	DOID:630	genetic disease		ISO	RGD:1345897	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8820626	Ptprq	protein tyrosine phosphatase receptor type Q	gene	DOID:8927	learning disability		ISO	RGD:1345897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
8820626	Ptprq	protein tyrosine phosphatase receptor type Q	gene	DOID:9001733	Tinnitus		ISO	RGD:1345897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868
8820626	Ptprq	protein tyrosine phosphatase receptor type Q	gene	DOID:9001767	Unilateral Hearing Loss		ISO	RGD:1345897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unilateral deafness	PMID:25741868
8820626	Ptprq	protein tyrosine phosphatase receptor type Q	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1345897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
8820626	Ptprq	protein tyrosine phosphatase receptor type Q	gene	DOID:9004538	Hearing Loss		ISO	RGD:1345897	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:25741868|PMID:30303587|PMID:30311386
8820626	Ptprq	protein tyrosine phosphatase receptor type Q	gene	DOID:9004538	Hearing Loss		ISO	RGD:1345897	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing impairment	PMID:25741868|PMID:30311386
8820626	Ptprq	protein tyrosine phosphatase receptor type Q	gene	DOID:9008681	Deafness		ISO	RGD:1345897	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness	
8820675	Sntn	sentan, cilia apical structure protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2306150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8820675	Sntn	sentan, cilia apical structure protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2306150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820675	Sntn	sentan, cilia apical structure protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2306150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8820691	Poli	DNA polymerase iota	gene	DOID:1115	sarcoma		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8820691	Poli	DNA polymerase iota	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8820691	Poli	DNA polymerase iota	gene	DOID:4362	cervical cancer		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8820691	Poli	DNA polymerase iota	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820691	Poli	DNA polymerase iota	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8820691	Poli	DNA polymerase iota	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8820691	Poli	DNA polymerase iota	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8820691	Poli	DNA polymerase iota	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8820705	Ppp5c	protein phosphatase 5 catalytic subunit	gene	DOID:0070297	primary microcephaly		ISO	RGD:68614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:35361529
8820705	Ppp5c	protein phosphatase 5 catalytic subunit	gene	DOID:10534	stomach cancer		ISO	RGD:68614	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8820705	Ppp5c	protein phosphatase 5 catalytic subunit	gene	DOID:10907	microcephaly		ISO	RGD:68614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:35361529
8820705	Ppp5c	protein phosphatase 5 catalytic subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8820705	Ppp5c	protein phosphatase 5 catalytic subunit	gene	DOID:1826	epilepsy		ISO	RGD:68614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:35361529
8820705	Ppp5c	protein phosphatase 5 catalytic subunit	gene	DOID:543	dystonia		ISO	RGD:68614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:35361529
8820705	Ppp5c	protein phosphatase 5 catalytic subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:68614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8820705	Ppp5c	protein phosphatase 5 catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820705	Ppp5c	protein phosphatase 5 catalytic subunit	gene	DOID:6039	uveal melanoma		ISO	RGD:68614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8820705	Ppp5c	protein phosphatase 5 catalytic subunit	gene	DOID:9001276	Failure to Thrive		ISO	RGD:68614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:35361529
8820705	Ppp5c	protein phosphatase 5 catalytic subunit	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:68614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25363768|PMID:25741868|PMID:33057194|PMID:35361529
8820705	Ppp5c	protein phosphatase 5 catalytic subunit	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:68615	D	RGD:9068941	20200609	RGD			PMID:20875921|REF_RGD_ID:8693745
8820705	Ppp5c	protein phosphatase 5 catalytic subunit	gene	DOID:9005077	Joint Instability		ISO	RGD:68614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:35361529
8820705	Ppp5c	protein phosphatase 5 catalytic subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:68614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:35361529
8820705	Ppp5c	protein phosphatase 5 catalytic subunit	gene	DOID:9650	pathologic nystagmus		ISO	RGD:68614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:35361529
8820722	Aagab	alpha and gamma adaptin binding protein	gene	DOID:0060361	punctate palmoplantar keratoderma		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Punctate palmoplantar hyperkeratosis	PMID:23448244|PMID:25741868
8820722	Aagab	alpha and gamma adaptin binding protein	gene	DOID:0080214	punctate palmoplantar keratoderma type I		ISO	RGD:1605954	D	RGD:7240710	20180130	OMIM			
8820722	Aagab	alpha and gamma adaptin binding protein	gene	DOID:0080214	punctate palmoplantar keratoderma type I		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE IA | ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA | ClinVar Annotator: match by term: Palmoplantar keratoderma, punctate type 1A | ClinVar Annotator: match by term: palmoplantar keratoderma, punctate type 1A	PMID:17576681|PMID:23000146|PMID:23064416|PMID:23448244|PMID:23563198|PMID:23633024|PMID:24390136|PMID:25741868|PMID:28492532|PMID:30451279|PMID:31526046|PMID:9536098
8820722	Aagab	alpha and gamma adaptin binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8820722	Aagab	alpha and gamma adaptin binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8820722	Aagab	alpha and gamma adaptin binding protein	gene	DOID:13197	nodular goiter		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nodular goiter	
8820722	Aagab	alpha and gamma adaptin binding protein	gene	DOID:1697	ichthyosis		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis	PMID:23448244|PMID:25741868
8820722	Aagab	alpha and gamma adaptin binding protein	gene	DOID:3070	high grade glioma		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8820722	Aagab	alpha and gamma adaptin binding protein	gene	DOID:3390	palmoplantar keratosis		ISO	RGD:1605954	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Palmoplantar keratoderma	PMID:25741868
8820722	Aagab	alpha and gamma adaptin binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8820722	Aagab	alpha and gamma adaptin binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8820722	Aagab	alpha and gamma adaptin binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820722	Aagab	alpha and gamma adaptin binding protein	gene	DOID:9002223	Diffuse Palmoplantar Keratoderma		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse palmoplantar hyperkeratosis	PMID:23448244|PMID:25741868
8820722	Aagab	alpha and gamma adaptin binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8820722	Aagab	alpha and gamma adaptin binding protein	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast neoplasm	
8820736	Mpc1	mitochondrial pyruvate carrier 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8820736	Mpc1	mitochondrial pyruvate carrier 1	gene	DOID:0080363	mitochondrial pyruvate carrier deficiency		ISO	RGD:1352706	D	RGD:7240710	20180130	OMIM			
8820736	Mpc1	mitochondrial pyruvate carrier 1	gene	DOID:0080363	mitochondrial pyruvate carrier deficiency		ISO	RGD:1352706	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY | ClinVar Annotator: match by term: MPC1-related condition | ClinVar Annotator: match by term: Mitochondrial pyruvate carrier deficiency	PMID:22628558|PMID:25741868|PMID:28492532|PMID:34873722
8820736	Mpc1	mitochondrial pyruvate carrier 1	gene	DOID:0111406	Fraser syndrome 3		ISO	RGD:1352706	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fraser syndrome 3	
8820736	Mpc1	mitochondrial pyruvate carrier 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8820736	Mpc1	mitochondrial pyruvate carrier 1	gene	DOID:303	substance-related disorder		ISO	RGD:1352706	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8820736	Mpc1	mitochondrial pyruvate carrier 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8820736	Mpc1	mitochondrial pyruvate carrier 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820736	Mpc1	mitochondrial pyruvate carrier 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8820736	Mpc1	mitochondrial pyruvate carrier 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8820750	Pard6b	par-6 family cell polarity regulator beta	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1317848	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8820750	Pard6b	par-6 family cell polarity regulator beta	gene	DOID:0060058	lymphoma		ISO	RGD:1317848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8820750	Pard6b	par-6 family cell polarity regulator beta	gene	DOID:1115	sarcoma		ISO	RGD:1317848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8820750	Pard6b	par-6 family cell polarity regulator beta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8820750	Pard6b	par-6 family cell polarity regulator beta	gene	DOID:3275	thymoma		ISO	RGD:1317848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8820750	Pard6b	par-6 family cell polarity regulator beta	gene	DOID:4362	cervical cancer		ISO	RGD:1317848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8820750	Pard6b	par-6 family cell polarity regulator beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1317848	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8820750	Pard6b	par-6 family cell polarity regulator beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820750	Pard6b	par-6 family cell polarity regulator beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8820757	Brms1l	BRMS1 like transcriptional repressor	gene	DOID:1115	sarcoma		ISO	RGD:1314372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8820757	Brms1l	BRMS1 like transcriptional repressor	gene	DOID:1324	lung cancer		ISO	RGD:1314372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8820757	Brms1l	BRMS1 like transcriptional repressor	gene	DOID:1909	melanoma		ISO	RGD:1314372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8820757	Brms1l	BRMS1 like transcriptional repressor	gene	DOID:3070	high grade glioma		ISO	RGD:1314372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8820757	Brms1l	BRMS1 like transcriptional repressor	gene	DOID:4362	cervical cancer		ISO	RGD:1314372	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8820757	Brms1l	BRMS1 like transcriptional repressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820757	Brms1l	BRMS1 like transcriptional repressor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8820757	Brms1l	BRMS1 like transcriptional repressor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8820757	Brms1l	BRMS1 like transcriptional repressor	gene	DOID:9256	colorectal cancer		ISO	RGD:1314372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8820774	Slc35a1	solute carrier family 35 member A1	gene	DOID:0070258	congenital disorder of glycosylation type IIf		ISO	RGD:1322776	D	RGD:7240710	20180130	OMIM			
8820774	Slc35a1	solute carrier family 35 member A1	gene	DOID:0070258	congenital disorder of glycosylation type IIf		ISO	RGD:1322776	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2F | ClinVar Annotator: match by term: SLC35A1-CDG | ClinVar Annotator: match by term: SLC35A1-related condition	PMID:24033266|PMID:25741868|PMID:28492532
8820774	Slc35a1	solute carrier family 35 member A1	gene	DOID:1115	sarcoma		ISO	RGD:1322776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8820774	Slc35a1	solute carrier family 35 member A1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8820774	Slc35a1	solute carrier family 35 member A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820774	Slc35a1	solute carrier family 35 member A1	gene	DOID:630	genetic disease		ISO	RGD:1322776	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8820774	Slc35a1	solute carrier family 35 member A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8820794	Top1mt	DNA topoisomerase I mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8820794	Top1mt	DNA topoisomerase I mitochondrial	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8820794	Top1mt	DNA topoisomerase I mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8820794	Top1mt	DNA topoisomerase I mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:1351494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8820794	Top1mt	DNA topoisomerase I mitochondrial	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8820794	Top1mt	DNA topoisomerase I mitochondrial	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1351494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
8820794	Top1mt	DNA topoisomerase I mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820794	Top1mt	DNA topoisomerase I mitochondrial	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8820794	Top1mt	DNA topoisomerase I mitochondrial	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8820794	Top1mt	DNA topoisomerase I mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8820794	Top1mt	DNA topoisomerase I mitochondrial	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8820867	Homer3	homer scaffold protein 3	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:731655	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8820867	Homer3	homer scaffold protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8820867	Homer3	homer scaffold protein 3	gene	DOID:1324	lung cancer		ISO	RGD:731655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8820867	Homer3	homer scaffold protein 3	gene	DOID:3275	thymoma		ISO	RGD:731655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8820867	Homer3	homer scaffold protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:731655	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8820867	Homer3	homer scaffold protein 3	gene	DOID:6039	uveal melanoma		ISO	RGD:731655	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8820867	Homer3	homer scaffold protein 3	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:731655	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8820867	Homer3	homer scaffold protein 3	gene	DOID:9003542	Keratoconus 5		ISO	RGD:731655	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Keratoconus 5	
8820867	Homer3	homer scaffold protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8820898	Tmem116	transmembrane protein 116	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8820898	Tmem116	transmembrane protein 116	gene	DOID:1115	sarcoma		ISO	RGD:1603287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8820898	Tmem116	transmembrane protein 116	gene	DOID:1909	melanoma		ISO	RGD:1603287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8820898	Tmem116	transmembrane protein 116	gene	DOID:4362	cervical cancer		ISO	RGD:1603287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8820898	Tmem116	transmembrane protein 116	gene	DOID:5041	esophageal cancer		ISO	RGD:1603287	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8820898	Tmem116	transmembrane protein 116	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8820898	Tmem116	transmembrane protein 116	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8820898	Tmem116	transmembrane protein 116	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8820927	Cyth1	cytohesin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8820927	Cyth1	cytohesin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8820927	Cyth1	cytohesin 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:736054	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
8820927	Cyth1	cytohesin 1	gene	DOID:10534	stomach cancer		ISO	RGD:736054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8820927	Cyth1	cytohesin 1	gene	DOID:1324	lung cancer		ISO	RGD:736054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8820927	Cyth1	cytohesin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736054	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8820927	Cyth1	cytohesin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820927	Cyth1	cytohesin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8820927	Cyth1	cytohesin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8820927	Cyth1	cytohesin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8820952	Znf205	zinc finger protein 205	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8820952	Znf205	zinc finger protein 205	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1312095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8820952	Znf205	zinc finger protein 205	gene	DOID:1909	melanoma		ISO	RGD:1312095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8820952	Znf205	zinc finger protein 205	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820952	Znf205	zinc finger protein 205	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8820968	Proz	protein Z, vitamin K dependent plasma glycoprotein	gene	DOID:0051061	stroke		ISO	RGD:1318570	D	RGD:9068941	20200609	RGD			PMID:15879328|REF_RGD_ID:1580691
8820968	Proz	protein Z, vitamin K dependent plasma glycoprotein	gene	DOID:1247	blood coagulation disease		ISO	RGD:1318570	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PROTEIN Z DEFICIENCY | ClinVar Annotator: match by term: Protein Z deficiency	
8820968	Proz	protein Z, vitamin K dependent plasma glycoprotein	gene	DOID:1247	blood coagulation disease	severity	ISO	RGD:1318571	D	RGD:9068941	20200609	RGD			PMID:10829076|REF_RGD_ID:1580102
8820968	Proz	protein Z, vitamin K dependent plasma glycoprotein	gene	DOID:13241	Behcet's disease		ISO	RGD:1318570	D	RGD:9068941	20200609	RGD			PMID:14507116|REF_RGD_ID:1580692
8820968	Proz	protein Z, vitamin K dependent plasma glycoprotein	gene	DOID:2316	brain ischemia		ISO	RGD:1318570	D	RGD:9068941	20200609	RGD			PMID:14671240|REF_RGD_ID:1358564
8820968	Proz	protein Z, vitamin K dependent plasma glycoprotein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8820968	Proz	protein Z, vitamin K dependent plasma glycoprotein	gene	DOID:4362	cervical cancer		ISO	RGD:1318570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8820968	Proz	protein Z, vitamin K dependent plasma glycoprotein	gene	DOID:9003121	Thromboembolism		ISO	RGD:1318570	D	RGD:9068941	20200609	RGD			PMID:12970515|REF_RGD_ID:1580693
8820968	Proz	protein Z, vitamin K dependent plasma glycoprotein	gene	DOID:9003121	Thromboembolism		ISO	RGD:1318570	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:12297123|REF_RGD_ID:1580720
8820968	Proz	protein Z, vitamin K dependent plasma glycoprotein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:10534	stomach cancer		ISO	RGD:734409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:13207	proliferative diabetic retinopathy	disease_progression	ISO	RGD:734409	D	RGD:9068941	20200609	RGD		protein:decreased expression:vitreous:	PMID:22864860|REF_RGD_ID:9685437
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:1324	lung cancer		ISO	RGD:734409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:2237	hepatitis		ISO	RGD:734409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17850827
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:3275	thymoma		ISO	RGD:734409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:734409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:734409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26037280
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9001191	Cadmium Poisoning		ISO	RGD:69298	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma:	PMID:24361405|REF_RGD_ID:9685430
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:69298	D	RGD:9068941	20200609	RGD		protein:increased activity:serum:	PMID:17850827|REF_RGD_ID:9685426
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:734409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:69298	D	RGD:9068941	20200609	RGD			PMID:20957682|REF_RGD_ID:9685427
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:69298	D	RGD:9068941	20200609	RGD			PMID:20392816|REF_RGD_ID:9685429
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9003996	Birth Weight		ISO	RGD:734409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23866971
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:734409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26037280
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69298	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina:	PMID:22864860|REF_RGD_ID:9685437
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:69298	D	RGD:9068941	20200609	RGD		protein:increased activity:serum:	PMID:17850827|REF_RGD_ID:9685426
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9008691	Liver Injury		ISO	RGD:69298	D	RGD:9068941	20200609	RGD		protein:increased activity:serum:	PMID:17850827|REF_RGD_ID:9685426
8820980	Enpp2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8821023	Krt79	keratin 79	gene	DOID:1909	melanoma		ISO	RGD:1602275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8821023	Krt79	keratin 79	gene	DOID:5041	esophageal cancer		ISO	RGD:1602275	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8821023	Krt79	keratin 79	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821023	Krt79	keratin 79	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8821023	Krt79	keratin 79	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8821036	Scyl3	SCY1 like pseudokinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8821036	Scyl3	SCY1 like pseudokinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1603625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8821036	Scyl3	SCY1 like pseudokinase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8821036	Scyl3	SCY1 like pseudokinase 3	gene	DOID:1115	sarcoma		ISO	RGD:1603625	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8821036	Scyl3	SCY1 like pseudokinase 3	gene	DOID:3070	high grade glioma		ISO	RGD:1603625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8821036	Scyl3	SCY1 like pseudokinase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1603625	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8821036	Scyl3	SCY1 like pseudokinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1603625	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8821036	Scyl3	SCY1 like pseudokinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821036	Scyl3	SCY1 like pseudokinase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8821036	Scyl3	SCY1 like pseudokinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8821036	Scyl3	SCY1 like pseudokinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8821036	Scyl3	SCY1 like pseudokinase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8821036	Scyl3	SCY1 like pseudokinase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8821070	Rpl18	ribosomal protein L18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8821070	Rpl18	ribosomal protein L18	gene	DOID:0111896	Diamond-Blackfan anemia 18		ISO	RGD:733647	D	RGD:7240710	20190315	OMIM			
8821070	Rpl18	ribosomal protein L18	gene	DOID:0111896	Diamond-Blackfan anemia 18		ISO	RGD:733647	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia 18 | ClinVar Annotator: match by term: RPL18-related condition	PMID:25741868|PMID:28492532
8821070	Rpl18	ribosomal protein L18	gene	DOID:10534	stomach cancer		ISO	RGD:733647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8821070	Rpl18	ribosomal protein L18	gene	DOID:3275	thymoma		ISO	RGD:733647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8821070	Rpl18	ribosomal protein L18	gene	DOID:5041	esophageal cancer		ISO	RGD:733647	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8821070	Rpl18	ribosomal protein L18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821070	Rpl18	ribosomal protein L18	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:733647	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8821070	Rpl18	ribosomal protein L18	gene	DOID:9000918	Disease Progression		ISO	RGD:733647	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8821070	Rpl18	ribosomal protein L18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8821070	Rpl18	ribosomal protein L18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:0050117	disease by infectious agent		ISO	RGD:737225	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:0050827	rheumatic heart disease		ISO	RGD:71029	D	RGD:9068941	20230202	RGD		mRNA:increases expression:mitral valve, heart (rat)	PMID:33179113|REF_RGD_ID:155882558
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:0050855	renal fibrosis		ISO	RGD:71029	D	RGD:9068941	20250515	RGD			PMID:20610530|REF_RGD_ID:7257557
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:0050855	renal fibrosis		ISO	RGD:732584	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:23224993|REF_RGD_ID:7257551
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737225	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:0060604	ankyloglossia		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ankyloglossia	PMID:25741868|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:737225	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:28492532|PMID:36517271
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:0110792	hereditary spastic paraplegia 4		ISO	RGD:737225	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 4	PMID:25741868
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:10763	hypertension		ISO	RGD:737225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11682445
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:1115	sarcoma		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:11155	hypohidrosis		ISO	RGD:737225	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:25741868|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:11664	nephrosclerosis		ISO	RGD:737225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30818366
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:11727	facioscapulohumeral muscular dystrophy		ISO	RGD:737225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12868502
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:11830	myopia		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:17576681|PMID:20301667|PMID:25741868|PMID:25758994|PMID:26566670|PMID:28492532|PMID:29346445|PMID:30919682|PMID:30999998|PMID:31719132|PMID:33974636|PMID:35571021|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:11836	clubfoot		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:28492532|PMID:30919572
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:1287	cardiovascular system disease		ISO	RGD:737225	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:15365990|PMID:17576681|PMID:19011090|PMID:19344236|PMID:19444361|PMID:24922459|PMID:25741868|PMID:25758994|PMID:28492532|PMID:30919682|PMID:30999998|PMID:31126764|PMID:35571021|PMID:36318936|PMID:36517271|PMID:38623759|PMID:7695699|PMID:8218237|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:22492385|PMID:30474650
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:12932	endomyocardial fibrosis		ISO	RGD:737225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11300427
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	severity	ISO	RGD:737225	D	RGD:9068941	20200626	RGD			PMID:28302172|REF_RGD_ID:32716376
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:737225	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:18272325|PMID:19424605|PMID:20301667|PMID:2049575|PMID:21086191|PMID:22001912|PMID:22019127|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25846194|PMID:25985138|PMID:26332594|PMID:26467025|PMID:27011056|PMID:27964749|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29346445|PMID:30374176|PMID:31141158|PMID:31903434|PMID:33974636|PMID:34453356|PMID:35128800|PMID:35587586|PMID:37079061
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:737225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28789951
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:13620	patent foramen ovale		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:13948	bladder neck obstruction	treatment	ISO	RGD:71029	D	RGD:9068941	20200609	RGD			PMID:23313213|REF_RGD_ID:7257549
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737225	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10706896|PMID:16199547|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19344236|PMID:19424605|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21984974|PMID:22001912|PMID:22019127|PMID:2235526|PMID:23148498|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24922459|PMID:24951259|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27153395|PMID:27306637|PMID:27888582|PMID:27964749|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29543232|PMID:29590070|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30374176|PMID:30379966|PMID:30793832|PMID:30919682|PMID:31075413|PMID:31126764|PMID:31531849|PMID:31719132|PMID:7695699|PMID:8218237|PMID:8514866|PMID:8990011|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737225	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10706896|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19344236|PMID:19424605|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21984974|PMID:22001912|PMID:22019127|PMID:2235526|PMID:23148498|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24922459|PMID:24951259|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27153395|PMID:27888582|PMID:27964749|PMID:28087566|PMID:28166811|PMID:28492532|PMID:28748566|PMID:29590070|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30374176|PMID:30379966|PMID:31075413|PMID:31531849|PMID:31719132|PMID:33282382|PMID:7695699|PMID:8218237|PMID:8514866|PMID:8990011|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737225	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27153395|PMID:27168972|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28166811|PMID:28492532|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30793832|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737225	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30793832|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737225	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29485843|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30793832|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737225	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29907982|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30793832|PMID:30896870|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:33628804|PMID:34047934|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737225	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29907982|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30675029|PMID:30793832|PMID:30896870|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:33628804|PMID:33726816|PMID:34047934|PMID:35699227|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737225	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:1352273|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:1780712|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:2365710|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29907982|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30675029|PMID:30793832|PMID:30896870|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33125268|PMID:33282382|PMID:33628804|PMID:33726816|PMID:34047934|PMID:35092149|PMID:35699227|PMID:36103205|PMID:36977837|PMID:37042257|PMID:37086723|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8680408|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737225	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:1352273|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:1780712|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:2365710|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29907982|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30675029|PMID:30793832|PMID:30896870|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33125268|PMID:33282382|PMID:33628804|PMID:33726816|PMID:34047934|PMID:35092149|PMID:35406420|PMID:35699227|PMID:36103205|PMID:36977837|PMID:37042257|PMID:37086723|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8680408|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737225	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:1352273|PMID:1556139|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:1780712|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:2365710|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:27975164|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28518168|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29907982|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30675029|PMID:30793832|PMID:30896870|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32461654|PMID:32483363|PMID:33087929|PMID:33125268|PMID:33282382|PMID:33726816|PMID:35092149|PMID:35406420|PMID:35699227|PMID:36103205|PMID:36977837|PMID:37042257|PMID:37086723|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8680408|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737225	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:1352273|PMID:1556139|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:1780712|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:2365710|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:27975164|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28518168|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29907982|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30675029|PMID:30786240|PMID:30793832|PMID:30896870|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32461654|PMID:32483363|PMID:33087929|PMID:33125268|PMID:33282382|PMID:33726816|PMID:35092149|PMID:35406420|PMID:35699227|PMID:36103205|PMID:36977837|PMID:37042257|PMID:37086723|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8680408|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737225	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:1352273|PMID:1556139|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:1780712|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:2365710|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:27975164|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28518168|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29907982|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30675029|PMID:30786240|PMID:30793832|PMID:30896870|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32461654|PMID:32483363|PMID:33087929|PMID:33125268|PMID:33282382|PMID:33726816|PMID:35092149|PMID:35406420|PMID:35699227|PMID:36103205|PMID:36977837|PMID:37042257|PMID:37086723|PMID:38102934|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8680408|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737225	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:1352273|PMID:1556139|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:1780712|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:20301667|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:2365710|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:27975164|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28518168|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:2934645|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29907982|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30675029|PMID:30786240|PMID:30793832|PMID:30896870|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32461654|PMID:32483363|PMID:33087929|PMID:33125268|PMID:33282382|PMID:33726816|PMID:34318601|PMID:35092149|PMID:35406420|PMID:35699227|PMID:36103205|PMID:36119745|PMID:36277156|PMID:36318936|PMID:36977837|PMID:37042257|PMID:37086723|PMID:38102934|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8680408|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737225	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:1352273|PMID:1556139|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:1780712|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:20301667|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:2365710|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:27975164|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28518168|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:2934645|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29907982|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30675029|PMID:30786240|PMID:30793832|PMID:30896870|PMID:30919682|PMID:30999998|PMID:31008308|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31791984|PMID:31833208|PMID:31903434|PMID:32461654|PMID:32483363|PMID:33087929|PMID:33125268|PMID:33282382|PMID:33726816|PMID:34318601|PMID:35092149|PMID:35406420|PMID:35699227|PMID:36103205|PMID:36119745|PMID:36189931|PMID:36277156|PMID:36318936|PMID:36977837|PMID:37042257|PMID:37086723|PMID:37655064|PMID:38102934|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8680408|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737225	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:1352273|PMID:1556139|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:1780712|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:20301667|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22038052|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:2365710|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26467025|PMID:26497932|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:27975164|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28518168|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29323927|PMID:29346445|PMID:2934645|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29907982|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30675029|PMID:30786240|PMID:30793832|PMID:30837697|PMID:30896870|PMID:30919682|PMID:30999998|PMID:31008308|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31211624|PMID:31447099|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31791984|PMID:31833208|PMID:31903434|PMID:32461654|PMID:32483363|PMID:33087929|PMID:33125268|PMID:33282382|PMID:33648514|PMID:33726816|PMID:34318601|PMID:34845833|PMID:35092149|PMID:35205368|PMID:35406420|PMID:35587586|PMID:35699227|PMID:36103205|PMID:36119745|PMID:36189931|PMID:36277156|PMID:36318936|PMID:36977837|PMID:37042257|PMID:37086723|PMID:37655064|PMID:38102934|PMID:38623759|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8680408|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737225	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:1352273|PMID:1556139|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:1780712|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:20301667|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22038052|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:2365710|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26467025|PMID:26497932|PMID:26566670|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:27975164|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28518168|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29323927|PMID:29346445|PMID:2934645|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29907982|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30675029|PMID:30786240|PMID:30793832|PMID:30837697|PMID:30896870|PMID:30919682|PMID:30999998|PMID:31008308|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31211624|PMID:31447099|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31791984|PMID:31833208|PMID:31903434|PMID:32009526|PMID:32461654|PMID:32483363|PMID:33084842|PMID:33087929|PMID:33125268|PMID:33282382|PMID:33648514|PMID:33726816|PMID:34047934|PMID:34318601|PMID:34845833|PMID:35092149|PMID:35205368|PMID:35406420|PMID:35571021|PMID:35587586|PMID:35699227|PMID:35984436|PMID:36103205|PMID:36119745|PMID:36189931|PMID:36277156|PMID:36318936|PMID:36977837|PMID:37042257|PMID:37079061|PMID:37086723|PMID:37655064|PMID:38102934|PMID:38623759|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8680408|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737225	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:11577371|PMID:12131463|PMID:12488462|PMID:1352273|PMID:1556139|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:20301667|PMID:2049575|PMID:21086191|PMID:21270786|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22038052|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:2365710|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25355833|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26467025|PMID:26497932|PMID:26566670|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:27975164|PMID:27981572|PMID:28035354|PMID:28087566|PMID:28440294|PMID:28492532|PMID:28518168|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29323927|PMID:29346445|PMID:2934645|PMID:29381997|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29907982|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30675029|PMID:30786240|PMID:30793832|PMID:30837697|PMID:30896870|PMID:30919682|PMID:30999998|PMID:31008308|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31211624|PMID:31447099|PMID:31531849|PMID:31575845|PMID:31600821|PMID:31719132|PMID:31791984|PMID:31833208|PMID:31903434|PMID:32009526|PMID:32461654|PMID:32483363|PMID:33084842|PMID:33087929|PMID:33125268|PMID:33243733|PMID:33282382|PMID:33648514|PMID:33726816|PMID:34047934|PMID:34318601|PMID:34845833|PMID:35092149|PMID:35205368|PMID:35406420|PMID:35543214|PMID:35571021|PMID:35587586|PMID:35699227|PMID:35984436|PMID:36103205|PMID:36119745|PMID:36189931|PMID:36277156|PMID:36318936|PMID:36446894|PMID:36977837|PMID:37042257|PMID:37068529|PMID:37079061|PMID:37086723|PMID:37655064|PMID:38102934|PMID:38623759|PMID:38944978|PMID:39511342|PMID:7487954|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8680408|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737225	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:11577371|PMID:12131463|PMID:12488462|PMID:1352273|PMID:1556139|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:20301667|PMID:2049575|PMID:21086191|PMID:21270786|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22038052|PMID:22065459|PMID:2235526|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:2365710|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25355833|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26467025|PMID:26497932|PMID:26566670|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:27975164|PMID:27981572|PMID:28035354|PMID:28087566|PMID:28440294|PMID:28492532|PMID:28518168|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29323927|PMID:29346445|PMID:2934645|PMID:29381997|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29907982|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30675029|PMID:30786240|PMID:30793832|PMID:30837697|PMID:30896870|PMID:30919682|PMID:30999998|PMID:31008308|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31211624|PMID:31447099|PMID:31531849|PMID:31575845|PMID:31600821|PMID:31719132|PMID:31791984|PMID:31833208|PMID:31903434|PMID:32009526|PMID:32461654|PMID:32483363|PMID:33084842|PMID:33087929|PMID:33125268|PMID:33243733|PMID:33282382|PMID:33648514|PMID:33726816|PMID:34047934|PMID:34318601|PMID:34845833|PMID:35092149|PMID:35205368|PMID:35406420|PMID:35543214|PMID:35571021|PMID:35587586|PMID:35699227|PMID:35984436|PMID:36103205|PMID:36119745|PMID:36189931|PMID:36277156|PMID:36318936|PMID:36446894|PMID:36977837|PMID:37042257|PMID:37068529|PMID:37079061|PMID:37086723|PMID:38102934|PMID:38623759|PMID:38944978|PMID:39511342|PMID:7487954|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8680408|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10706896|PMID:11577371|PMID:15365990|PMID:16199547|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:19011090|PMID:19344236|PMID:19424605|PMID:19444361|PMID:20301667|PMID:2049575|PMID:21086191|PMID:21270786|PMID:21520333|PMID:21533953|PMID:21637106|PMID:22001912|PMID:22019127|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24653803|PMID:24922459|PMID:24951259|PMID:25355833|PMID:25503501|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26467025|PMID:26566670|PMID:27011056|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27964749|PMID:27975164|PMID:27981572|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29381997|PMID:29510914|PMID:29650765|PMID:29907982|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30675029|PMID:30786240|PMID:30793832|PMID:30837697|PMID:30896870|PMID:30919682|PMID:30999998|PMID:31008308|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31447099|PMID:31600821|PMID:31719132|PMID:31791984|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:33974636|PMID:35543214|PMID:35571021|PMID:35587586|PMID:35699227|PMID:35984436|PMID:36119745|PMID:36318936|PMID:36977837|PMID:37042257|PMID:37068529|PMID:37079061|PMID:37086723|PMID:37937776|PMID:38102934|PMID:38623759|PMID:38944978|PMID:39996803|PMID:7695699|PMID:8218237|PMID:8514866|PMID:8881656|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737225	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10706896|PMID:11577371|PMID:15365990|PMID:16199547|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:20301667|PMID:21086191|PMID:21520333|PMID:21637106|PMID:22001912|PMID:22019127|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25355833|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25944730|PMID:26017485|PMID:26332594|PMID:26333736|PMID:26566670|PMID:27011056|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27975164|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29381997|PMID:29510914|PMID:29543232|PMID:29650765|PMID:29907982|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30379966|PMID:30474650|PMID:30675029|PMID:30786240|PMID:30793832|PMID:30837697|PMID:30896870|PMID:30919682|PMID:30999998|PMID:31008308|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31447099|PMID:31600821|PMID:31719132|PMID:31791984|PMID:31903434|PMID:33087929|PMID:33282382|PMID:33974636|PMID:34453356|PMID:35543214|PMID:35571021|PMID:35587586|PMID:35699227|PMID:35984436|PMID:36119745|PMID:36189931|PMID:36318936|PMID:36517271|PMID:36977837|PMID:37042257|PMID:37068529|PMID:37079061|PMID:37086723|PMID:37655064|PMID:37937776|PMID:38102934|PMID:38623759|PMID:38944978|PMID:39996803|PMID:7695699|PMID:8218237|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:737225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23274713
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14323	Marfan syndrome		ISO	RGD:737225	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfan's syndrome	PMID:25741868|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:737225	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1	PMID:20648054|PMID:22696272|PMID:23587214|PMID:24922459|PMID:28492532|PMID:9783710
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14756	vascular type Ehlers-Danlos syndrome		ISO	RGD:737225	D	RGD:7240710	20180620	OMIM			
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14756	vascular type Ehlers-Danlos syndrome		ISO	RGD:737225	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COL3A1-related condition | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, VASCULAR TYPE | ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, arterial type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome vascular type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, vascular type	PMID:10706896|PMID:11577371|PMID:12694234|PMID:15365990|PMID:16199547|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20301667|PMID:20518783|PMID:21637106|PMID:22001912|PMID:22019127|PMID:22038052|PMID:22492385|PMID:23293852|PMID:2365710|PMID:24033266|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25205403|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25944730|PMID:26017485|PMID:26332594|PMID:26333736|PMID:26566670|PMID:27146836|PMID:28492532|PMID:28518168|PMID:28655553|PMID:28742248|PMID:28748566|PMID:29192238|PMID:29346445|PMID:29543232|PMID:29790871|PMID:29907982|PMID:30129429|PMID:30474650|PMID:30675029|PMID:30793832|PMID:30896870|PMID:30919572|PMID:30919682|PMID:31126764|PMID:31141158|PMID:31394236|PMID:31447099|PMID:31600821|PMID:31719132|PMID:31833208|PMID:32461654|PMID:33084842|PMID:33087929|PMID:33125268|PMID:33243733|PMID:33974636|PMID:34047934|PMID:34453356|PMID:35543214|PMID:35587586|PMID:35699227|PMID:35984436|PMID:36103205|PMID:36189931|PMID:36318936|PMID:36517271|PMID:37086723|PMID:38344356|PMID:38623759|PMID:38958168|PMID:39511342|PMID:7581395|PMID:7695699|PMID:8218237|PMID:8320698|PMID:8477261|PMID:8990011|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:14757	Ehlers-Danlos syndrome hypermobility type		ISO	RGD:737225	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos Syndrome, Hypermobility Type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3	PMID:25326637|PMID:25741868|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:1596	depressive disorder		ISO	RGD:737225	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Depression	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30919682|PMID:30999998|PMID:35571021|PMID:36517271|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:1673	pneumothorax		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spontaneous pneumothorax	PMID:25741868|PMID:28492532|PMID:30919572
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:1891	optic nerve disease		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:20301667|PMID:25741868|PMID:26566670|PMID:28492532|PMID:29346445
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:2018	hyperinsulinism		ISO	RGD:737225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20836762
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:2030	anxiety disorder		ISO	RGD:737225	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:17576681|PMID:25741868|PMID:25758994|PMID:28492532|PMID:30919682|PMID:30999998|PMID:31719132|PMID:33974636|PMID:35571021|PMID:36517271|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:737225	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:2394	ovarian cancer		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:22001912|PMID:25741868|PMID:25776230|PMID:26332594|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:2841	asthma		ISO	RGD:737225	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:3275	thymoma		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:737225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26817844
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:3770	pulmonary fibrosis	disease_progression	ISO	RGD:732584	D	RGD:9068941	20200619	RGD		associated with  Middle East respiratory syndrome;	PMID:31838832|REF_RGD_ID:30309204
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:409	liver disease		ISO	RGD:737225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11738102
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:418	systemic scleroderma		ISO	RGD:732584	D	RGD:9068941	20220825	MouseDO		OMIM:181750	
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:4195	hyperglycemia		ISO	RGD:737225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20836762
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:4450	renal cell carcinoma		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cell carcinoma	PMID:25741868|PMID:28492532|PMID:30919572
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:480	movement disease		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:737225	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:5082	liver cirrhosis		ISO	RGD:737225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11167689|PMID:15787813|PMID:16679477|PMID:1880254|PMID:2566230
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:5199	ureteral obstruction		ISO	RGD:737225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17164399
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:520	aortic disease		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortopathy | ClinVar Annotator: match by term: Familial aortopathy	PMID:10706896|PMID:18272325|PMID:19344236|PMID:21637106|PMID:24922459|PMID:25644172|PMID:25741868|PMID:25758994|PMID:27168972|PMID:28492532|PMID:28655553|PMID:30786240|PMID:31447099|PMID:33974636|PMID:34453356|PMID:7695699|PMID:8218237
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:5419	schizophrenia		ISO	RGD:737225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:57	aortic valve insufficiency		ISO	RGD:737225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21216836
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:27153395|PMID:28492532|PMID:30379966
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:71029	D	RGD:9068941	20200609	RGD			PMID:25636075|REF_RGD_ID:11041598
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:630	genetic disease		ISO	RGD:737225	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:65	connective tissue disease		ISO	RGD:737225	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:22001912|PMID:25741868|PMID:25776230|PMID:26332594|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:22001912|PMID:25741868|PMID:25776230|PMID:26332594|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal aortic aneurysm	PMID:21637106|PMID:24399159|PMID:24922459|PMID:25741868|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:783	end stage renal disease		ISO	RGD:737225	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.I1205V (human)	PMID:19424605|REF_RGD_ID:7257553
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:7998	hyperthyroidism		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:20301667|PMID:25741868|PMID:26566670|PMID:28492532|PMID:29346445
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:865	vasculitis		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasculitis	PMID:25741868|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9000058	Keloid		ISO	RGD:737225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:737225	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arrhythmia | ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:21086191|PMID:21984974|PMID:24036952|PMID:24055113|PMID:25741868|PMID:25758994|PMID:25834947|PMID:26017485|PMID:26332594|PMID:28492532|PMID:33974636
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9000727	Syncope		ISO	RGD:737225	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:25741868|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9000784	Fibrosis		ISO	RGD:737225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20388698
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9000950	Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome		ISO	RGD:737225	D	RGD:7240710	20190315	OMIM			
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9000950	Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome		ISO	RGD:737225	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME | ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome	PMID:10706896|PMID:11577371|PMID:17576681|PMID:18272325|PMID:19344236|PMID:20301667|PMID:21637106|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25205403|PMID:25741868|PMID:25758994|PMID:26566670|PMID:27975164|PMID:28258187|PMID:28492532|PMID:28655553|PMID:28742248|PMID:29192238|PMID:29346445|PMID:30919572|PMID:30919682|PMID:30999998|PMID:31141158|PMID:31719132|PMID:33125268|PMID:33974636|PMID:34453356|PMID:35571021|PMID:35587586|PMID:36103205|PMID:36517271|PMID:36977837|PMID:37086723|PMID:37937776|PMID:38344356|PMID:39511342|PMID:7695699|PMID:8218237|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9000955	Acute Otitis Media		IEP		D	RGD:11556224|PMID:10453785	20161028	RGD			
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9001224	Striae Distensae		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:25741868
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9001287	Ehlers-Danlos Syndrome Type 4		ISO	RGD:737225	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4	PMID:10051163|PMID:10706896|PMID:10819545|PMID:10923041|PMID:11359405|PMID:11577371|PMID:12131463|PMID:12488462|PMID:1352273|PMID:1357232|PMID:15365990|PMID:1556139|PMID:16199547|PMID:16751282|PMID:16863833|PMID:17053184|PMID:17122455|PMID:17210404|PMID:17224388|PMID:17251678|PMID:17576681|PMID:1772601|PMID:17728513|PMID:18043893|PMID:18272325|PMID:18389341|PMID:19011090|PMID:19248182|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:19695909|PMID:20052764|PMID:20301667|PMID:20518783|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:22001912|PMID:22019127|PMID:22038052|PMID:22065459|PMID:2243125|PMID:22492385|PMID:22610159|PMID:22713205|PMID:23001006|PMID:23052746|PMID:23148498|PMID:23234825|PMID:2365710|PMID:24033266|PMID:24399159|PMID:24650746|PMID:24653803|PMID:24922459|PMID:2492273|PMID:24932165|PMID:24951259|PMID:25149929|PMID:25205403|PMID:25355833|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25944730|PMID:26017485|PMID:26332594|PMID:26333736|PMID:26497932|PMID:26566670|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27611364|PMID:27975164|PMID:28183226|PMID:28349240|PMID:28440294|PMID:28492532|PMID:28518168|PMID:28655553|PMID:28742248|PMID:28748566|PMID:29192238|PMID:29216800|PMID:29309923|PMID:29323927|PMID:2934644|PMID:29346445|PMID:2934645|PMID:29381997|PMID:29510914|PMID:29543232|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29907982|PMID:29940997|PMID:30078642|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30379966|PMID:30474650|PMID:30675029|PMID:30690834|PMID:30786240|PMID:30793832|PMID:30837697|PMID:30896870|PMID:30919572|PMID:30919682|PMID:30999998|PMID:31008308|PMID:31075413|PMID:31126764|PMID:31131953|PMID:31141158|PMID:31211624|PMID:31394236|PMID:31406019|PMID:31447099|PMID:31575845|PMID:31600821|PMID:31719132|PMID:31791984|PMID:31833208|PMID:31891008|PMID:31903434|PMID:32009526|PMID:32371413|PMID:32461654|PMID:33084842|PMID:33087929|PMID:33125268|PMID:33161638|PMID:33282382|PMID:33648514|PMID:33974636|PMID:34047934|PMID:34226255|PMID:34453356|PMID:34845833|PMID:35205368|PMID:35234813|PMID:35543214|PMID:35571021|PMID:35587586|PMID:35699227|PMID:35754816|PMID:35803546|PMID:35943490|PMID:35984436|PMID:36103205|PMID:36189931|PMID:36304539|PMID:36318936|PMID:36446894|PMID:36517271|PMID:36719990|PMID:36977837|PMID:37042257|PMID:37068529|PMID:37079061|PMID:37086723|PMID:37171638|PMID:37178278|PMID:37461200|PMID:37655064|PMID:37754822|PMID:37776192|PMID:37937776|PMID:38102934|PMID:38344356|PMID:38623759|PMID:38944978|PMID:38958168|PMID:39511342|PMID:39996803|PMID:7487954|PMID:7665911|PMID:7695699|PMID:7912131|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8664902|PMID:8680408|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9399899|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9001528	ARTERIAL DISSECTION		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arterial dissection	PMID:17576681|PMID:28492532|PMID:30919682|PMID:30999998|PMID:35571021|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11788567|PMID:25380136
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9001575	IRIS COLOBOMA		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iris coloboma	PMID:25741868|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9001665	Aneurysm		ISO	RGD:737225	D	RGD:9068941	20200609	RGD		DNA:snp:intron:IVS20+1G>A (human)	PMID:2349939|REF_RGD_ID:1300382
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9001733	Tinnitus		ISO	RGD:737225	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30919682|PMID:30999998|PMID:35571021|PMID:36517271|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9002488	Peritoneal Fibrosis	disease_progression	ISO	RGD:71029	D	RGD:9068941	20241212	RGD			PMID:12691502|REF_RGD_ID:41410779
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9002488	Peritoneal Fibrosis	treatment	ISO	RGD:71029	D	RGD:9068941	20241212	RGD			PMID:12911538|REF_RGD_ID:41410781
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9002884	Emphysema		ISO	RGD:737225	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Emphysema	PMID:10706896|PMID:19344236|PMID:20518783|PMID:22492385|PMID:24922459|PMID:25741868|PMID:25758994|PMID:28492532|PMID:30474650|PMID:30919682|PMID:35234813|PMID:35803546|PMID:36189931|PMID:37178278|PMID:38623759|PMID:7695699|PMID:8218237
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9003133	Hypertelorism		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532|PMID:30919572
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:71029	D	RGD:9068941	20230225	RGD		protein:increased expression:blood serum (rat)	PMID:27318893|REF_RGD_ID:156430318
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9003507	Premature Birth		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9003539	Hyperacusis		ISO	RGD:737225	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:20301667|PMID:25741868|PMID:26566670|PMID:28492532|PMID:29346445|PMID:36517271
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9003591	Telecanthus		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9004139	Hemoptysis		ISO	RGD:737225	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hemoptysis	PMID:10706896|PMID:19344236|PMID:20518783|PMID:22492385|PMID:24922459|PMID:25741868|PMID:25758994|PMID:28492532|PMID:30474650|PMID:30919682|PMID:35234813|PMID:35803546|PMID:36189931|PMID:37178278|PMID:38623759|PMID:7695699|PMID:8218237
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9004283	Transplant Rejection		ISO	RGD:737225	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:20150539|REF_RGD_ID:7248773
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9004563	Maxillofacial Abnormalities		ISO	RGD:71029	D	RGD:9068941	20200609	RGD			PMID:10373016|REF_RGD_ID:704391
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:737225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11181017
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:20301667|PMID:25741868|PMID:26566670|PMID:28492532|PMID:29346445
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9004912	Hyperoxaluria		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperoxaluria	PMID:19344236|PMID:24922459|PMID:25741868|PMID:25758994|PMID:28492532|PMID:7695699|PMID:8218237
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9005077	Joint Instability		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:2049575|PMID:21086191|PMID:21270786|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25846194|PMID:25985138|PMID:26467025|PMID:27011056|PMID:27964749|PMID:27981572|PMID:28492532|PMID:28748566|PMID:30374176|PMID:31903434
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9005077	Joint Instability		ISO	RGD:737225	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9005616	Micrognathism		ISO	RGD:737225	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:19344236|PMID:24922459|PMID:25741868|PMID:25758994|PMID:28492532|PMID:30474650|PMID:31075413|PMID:7695699|PMID:8218237
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9006065	Arthralgia		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9006223	Kidney Reperfusion Injury	ameliorates	ISO	RGD:732584	D	RGD:9068941	20230601	RGD			PMID:24920753|REF_RGD_ID:329845564
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9006325	Ventral Hernia	treatment	ISO	RGD:71029	D	RGD:9068941	20200609	RGD			PMID:26578432|REF_RGD_ID:11041579
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9006827	Lung Reperfusion Injury		ISO	RGD:732584	D	RGD:9068941	20220915	RGD		mRNA:increased expression:lung (mouse)	PMID:34238924|REF_RGD_ID:153350155
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9006836	Contracture	treatment	ISO	RGD:71029	D	RGD:9068941	20200609	RGD			PMID:26097527|REF_RGD_ID:11041578
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:737225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16679477
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9007661	Dwarfism		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9007736	Vertigo		ISO	RGD:737225	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532|PMID:36517271
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9008023	Memory Disorders		ISO	RGD:737225	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30919682|PMID:30999998|PMID:35571021|PMID:36517271|PMID:9536098
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9009005	Familial Thoracic Aortic Aneurysm 2		ISO	RGD:737225	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2	
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:71029	D	RGD:9068941	20200609	RGD			PMID:20836762|REF_RGD_ID:7257556
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9452	steatotic liver disease		ISO	RGD:737225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15787813
8821097	Col3a1	collagen type III alpha 1 chain	gene	DOID:9970	obesity		ISO	RGD:71029	D	RGD:9068941	20240208	RGD		mRNA:increased expression:kidney (rat)	PMID:28746409|REF_RGD_ID:401965413
8821159	Stk38	serine/threonine kinase 38	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8821159	Stk38	serine/threonine kinase 38	gene	DOID:1115	sarcoma		ISO	RGD:1319806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8821159	Stk38	serine/threonine kinase 38	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319806	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	
8821159	Stk38	serine/threonine kinase 38	gene	DOID:1909	melanoma		ISO	RGD:1319806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8821159	Stk38	serine/threonine kinase 38	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8821159	Stk38	serine/threonine kinase 38	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821159	Stk38	serine/threonine kinase 38	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8821159	Stk38	serine/threonine kinase 38	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8821186	Limch1	LIM and calponin homology domains 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8821186	Limch1	LIM and calponin homology domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8821186	Limch1	LIM and calponin homology domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8821186	Limch1	LIM and calponin homology domains 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8821186	Limch1	LIM and calponin homology domains 1	gene	DOID:1115	sarcoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8821186	Limch1	LIM and calponin homology domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8821186	Limch1	LIM and calponin homology domains 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1604823	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
8821186	Limch1	LIM and calponin homology domains 1	gene	DOID:1909	melanoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8821186	Limch1	LIM and calponin homology domains 1	gene	DOID:303	substance-related disorder		ISO	RGD:1604823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8821186	Limch1	LIM and calponin homology domains 1	gene	DOID:3070	high grade glioma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8821186	Limch1	LIM and calponin homology domains 1	gene	DOID:3275	thymoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8821186	Limch1	LIM and calponin homology domains 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8821186	Limch1	LIM and calponin homology domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8821186	Limch1	LIM and calponin homology domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604823	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8821186	Limch1	LIM and calponin homology domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821186	Limch1	LIM and calponin homology domains 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604823	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8821186	Limch1	LIM and calponin homology domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8821186	Limch1	LIM and calponin homology domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8821186	Limch1	LIM and calponin homology domains 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8821238	Acot7	acyl-CoA thioesterase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8821238	Acot7	acyl-CoA thioesterase 7	gene	DOID:10534	stomach cancer		ISO	RGD:733878	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8821238	Acot7	acyl-CoA thioesterase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8821238	Acot7	acyl-CoA thioesterase 7	gene	DOID:1324	lung cancer		ISO	RGD:733878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8821238	Acot7	acyl-CoA thioesterase 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8821238	Acot7	acyl-CoA thioesterase 7	gene	DOID:5041	esophageal cancer		ISO	RGD:733878	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8821238	Acot7	acyl-CoA thioesterase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821238	Acot7	acyl-CoA thioesterase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8821238	Acot7	acyl-CoA thioesterase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
8821254	Hesx1	HESX homeobox 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
8821254	Hesx1	HESX homeobox 1	gene	DOID:0060857	septooptic dysplasia		ISO	RGD:1353119	D	RGD:7240710	20200115	OMIM			
8821254	Hesx1	HESX homeobox 1	gene	DOID:0060857	septooptic dysplasia		ISO	RGD:1353119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: De morsier syndrome | ClinVar Annotator: match by term: HESX1-related condition | ClinVar Annotator: match by term: SEPTOOPTIC DYSPLASIA | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | ClinVar Annotator: match by term: Septooptic dysplasia	PMID:11136712|PMID:18852528|PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:25741868|PMID:26873401|PMID:27000987|PMID:2700987|PMID:27828722|PMID:28396770|PMID:28492532|PMID:30266296|PMID:30487145|PMID:31022718|PMID:31395954|PMID:33451138|PMID:36531499|PMID:9620767
8821254	Hesx1	HESX homeobox 1	gene	DOID:0061019	combined or isolated pituitary hormone deficiency 1		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1	PMID:28492532
8821254	Hesx1	HESX homeobox 1	gene	DOID:10907	microcephaly		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
8821254	Hesx1	HESX homeobox 1	gene	DOID:11162	respiratory failure		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
8821254	Hesx1	HESX homeobox 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
8821254	Hesx1	HESX homeobox 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
8821254	Hesx1	HESX homeobox 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
8821254	Hesx1	HESX homeobox 1	gene	DOID:12849	autistic disorder		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8821254	Hesx1	HESX homeobox 1	gene	DOID:1826	epilepsy		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8821254	Hesx1	HESX homeobox 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
8821254	Hesx1	HESX homeobox 1	gene	DOID:1923	disorder of sexual development		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
8821254	Hesx1	HESX homeobox 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8821254	Hesx1	HESX homeobox 1	gene	DOID:255	hemangioma		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
8821254	Hesx1	HESX homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821254	Hesx1	HESX homeobox 1	gene	DOID:630	genetic disease		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
8821254	Hesx1	HESX homeobox 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
8821254	Hesx1	HESX homeobox 1	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
8821254	Hesx1	HESX homeobox 1	gene	DOID:9002446	Combined Pituitary Hormone Deficiency 5		ISO	RGD:1353119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES | ClinVar Annotator: match by term: Growth hormone deficiency with pituitary anomalies | ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED, 5	PMID:11136712|PMID:11748154|PMID:16199547|PMID:16940453|PMID:17148560|PMID:17315526|PMID:17576681|PMID:18852528|PMID:19093031|PMID:21270112|PMID:22145475|PMID:23465708|PMID:25500790|PMID:25741868|PMID:25910213|PMID:26873401|PMID:27000987|PMID:2700987|PMID:27013732|PMID:27343026|PMID:27828722|PMID:28396770|PMID:28492532|PMID:30266296|PMID:30487145|PMID:30888394|PMID:31022718|PMID:31395954|PMID:33451138|PMID:36531499|PMID:39039281|PMID:9536098|PMID:9620767
8821254	Hesx1	HESX homeobox 1	gene	DOID:9002802	Acidoses		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acidosis	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
8821254	Hesx1	HESX homeobox 1	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
8821254	Hesx1	HESX homeobox 1	gene	DOID:9004507	Hirsutism		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
8821254	Hesx1	HESX homeobox 1	gene	DOID:9006024	Hypotension		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotension	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
8821254	Hesx1	HESX homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8821254	Hesx1	HESX homeobox 1	gene	DOID:9007001	Bradycardia		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
8821254	Hesx1	HESX homeobox 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10599689|PMID:11136712|PMID:11748154|PMID:17148560|PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:25741868|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:34906519|PMID:9620767
8821254	Hesx1	HESX homeobox 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8821254	Hesx1	HESX homeobox 1	gene	DOID:9406	hypopituitarism		ISO	RGD:1353119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypopituitarism | ClinVar Annotator: match by term: Pituitary hormone deficiency	PMID:11748154|PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:25741868|PMID:25910213|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:33098107|PMID:9620767
8821254	Hesx1	HESX homeobox 1	gene	DOID:9410	combined pituitary hormone deficiency		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Panhypopituitarism	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
8821262	Khdrbs1	KH RNA binding domain containing, signal transduction associated 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8821262	Khdrbs1	KH RNA binding domain containing, signal transduction associated 1	gene	DOID:10534	stomach cancer		ISO	RGD:734416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8821262	Khdrbs1	KH RNA binding domain containing, signal transduction associated 1	gene	DOID:1115	sarcoma		ISO	RGD:734416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8821262	Khdrbs1	KH RNA binding domain containing, signal transduction associated 1	gene	DOID:1324	lung cancer		ISO	RGD:734416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8821262	Khdrbs1	KH RNA binding domain containing, signal transduction associated 1	gene	DOID:1909	melanoma		ISO	RGD:734416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8821262	Khdrbs1	KH RNA binding domain containing, signal transduction associated 1	gene	DOID:1936	atherosclerosis	ameliorates	ISO	RGD:734417	D	RGD:9068941	20230330	RGD		ApoE knockout mice	PMID:30529164|REF_RGD_ID:243048424
8821262	Khdrbs1	KH RNA binding domain containing, signal transduction associated 1	gene	DOID:4362	cervical cancer		ISO	RGD:734416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8821262	Khdrbs1	KH RNA binding domain containing, signal transduction associated 1	gene	DOID:5041	esophageal cancer		ISO	RGD:734416	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8821262	Khdrbs1	KH RNA binding domain containing, signal transduction associated 1	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:734416	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
8821262	Khdrbs1	KH RNA binding domain containing, signal transduction associated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821262	Khdrbs1	KH RNA binding domain containing, signal transduction associated 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8821262	Khdrbs1	KH RNA binding domain containing, signal transduction associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8821262	Khdrbs1	KH RNA binding domain containing, signal transduction associated 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8821262	Khdrbs1	KH RNA binding domain containing, signal transduction associated 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8821282	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8821282	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:10534	stomach cancer		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8821282	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8821282	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:1115	sarcoma		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8821282	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:1909	melanoma		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8821282	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8821282	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:3070	high grade glioma		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8821282	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8821282	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8821282	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8821282	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1318550	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8821282	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821282	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8821282	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8821282	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:9003713	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis		ISO	RGD:1318550	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Corticobasal syndrome	PMID:25741868
8821282	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8821282	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8821282	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8821282	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8821333	Snap91	synaptosome associated protein 91	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8821333	Snap91	synaptosome associated protein 91	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731271	D	RGD:9068941	20200609	RGD		protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces:	PMID:20847448|REF_RGD_ID:13506238
8821333	Snap91	synaptosome associated protein 91	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735275	D	RGD:9068941	20200609	RGD		denntate gyrus, hippocampus, entorhinal cortex	PMID:20847448|REF_RGD_ID:13506238
8821333	Snap91	synaptosome associated protein 91	gene	DOID:1115	sarcoma		ISO	RGD:731271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8821333	Snap91	synaptosome associated protein 91	gene	DOID:1324	lung cancer		ISO	RGD:731271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8821333	Snap91	synaptosome associated protein 91	gene	DOID:1909	melanoma		ISO	RGD:731271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8821333	Snap91	synaptosome associated protein 91	gene	DOID:3070	high grade glioma		ISO	RGD:731271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8821333	Snap91	synaptosome associated protein 91	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:69276	D	RGD:9068941	20200609	RGD		protein:increased degradation:brain	PMID:19240038|REF_RGD_ID:13461853
8821333	Snap91	synaptosome associated protein 91	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8821333	Snap91	synaptosome associated protein 91	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:731271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8821372	Znf688	zinc finger protein 688	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8821372	Znf688	zinc finger protein 688	gene	DOID:1324	lung cancer		ISO	RGD:1602068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8821372	Znf688	zinc finger protein 688	gene	DOID:3275	thymoma		ISO	RGD:1602068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8821372	Znf688	zinc finger protein 688	gene	DOID:5041	esophageal cancer		ISO	RGD:1602068	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8821372	Znf688	zinc finger protein 688	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8821393	Trip4	thyroid hormone receptor interactor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8821393	Trip4	thyroid hormone receptor interactor 4	gene	DOID:14717	centronuclear myopathy		ISO	RGD:1315680	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Centronuclear myopathy	PMID:25741868|PMID:31794073
8821393	Trip4	thyroid hormone receptor interactor 4	gene	DOID:1909	melanoma		ISO	RGD:1315680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8821393	Trip4	thyroid hormone receptor interactor 4	gene	DOID:3275	thymoma		ISO	RGD:1315680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8821393	Trip4	thyroid hormone receptor interactor 4	gene	DOID:4362	cervical cancer		ISO	RGD:1315680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8821393	Trip4	thyroid hormone receptor interactor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821393	Trip4	thyroid hormone receptor interactor 4	gene	DOID:630	genetic disease		ISO	RGD:1315680	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8821393	Trip4	thyroid hormone receptor interactor 4	gene	DOID:9006286	Congenital Muscular Dystrophy, Davignon-Chauveau Type		ISO	RGD:1315680	D	RGD:7240710	20190315	OMIM			
8821393	Trip4	thyroid hormone receptor interactor 4	gene	DOID:9006286	Congenital Muscular Dystrophy, Davignon-Chauveau Type		ISO	RGD:1315680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy, congenital, davignon-chauveau type | ClinVar Annotator: match by term: TRIP4-Related Disorders	PMID:16199547|PMID:25741868|PMID:26924529|PMID:27008887|PMID:28492532|PMID:35372177
8821393	Trip4	thyroid hormone receptor interactor 4	gene	DOID:9007140	Spinal Muscular Atrophy with Congenital Bone Fractures 1		ISO	RGD:1315680	D	RGD:7240710	20190315	OMIM			
8821393	Trip4	thyroid hormone receptor interactor 4	gene	DOID:9007140	Spinal Muscular Atrophy with Congenital Bone Fractures 1		ISO	RGD:1315680	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 | ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 1 | ClinVar Annotator: match by term: TRIP4-related condition	PMID:25741868|PMID:26924529|PMID:27008887|PMID:28492532|PMID:35276412
8821393	Trip4	thyroid hormone receptor interactor 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8821393	Trip4	thyroid hormone receptor interactor 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8821412	Pfdn5	prefoldin subunit 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8821412	Pfdn5	prefoldin subunit 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8821412	Pfdn5	prefoldin subunit 5	gene	DOID:1115	sarcoma		ISO	RGD:1322898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8821412	Pfdn5	prefoldin subunit 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821412	Pfdn5	prefoldin subunit 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8821412	Pfdn5	prefoldin subunit 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8821423	Erich4	glutamate rich 4	gene	DOID:3275	thymoma		ISO	RGD:2299179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8821435	Ptpn3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8821435	Ptpn3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8821435	Ptpn3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:10283	prostate cancer		ISO	RGD:1322781	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8821435	Ptpn3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:10283	prostate cancer		ISO	RGD:1322781	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8821435	Ptpn3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8821435	Ptpn3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8821435	Ptpn3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8821435	Ptpn3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:3275	thymoma		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8821435	Ptpn3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8821435	Ptpn3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8821435	Ptpn3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1322781	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8821435	Ptpn3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821435	Ptpn3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8821435	Ptpn3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8821435	Ptpn3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:9775	diastolic heart failure		ISO	RGD:1322781	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
8821472	Rhoh	ras homolog family member H	gene	DOID:0060019	coronin-1A deficiency		ISO	RGD:1316925	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis	PMID:25741868|PMID:28492532
8821472	Rhoh	ras homolog family member H	gene	DOID:0061094	immunodeficiency 129		ISO	RGD:1316925	D	RGD:7240710	20241211	OMIM			
8821472	Rhoh	ras homolog family member H	gene	DOID:0061094	immunodeficiency 129		ISO	RGD:1316925	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 | ClinVar Annotator: match by term: IMMUNODEFICIENCY 129 | ClinVar Annotator: match by term: RHOH-related condition	PMID:25741868|PMID:28492532
8821472	Rhoh	ras homolog family member H	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1316925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8821472	Rhoh	ras homolog family member H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821472	Rhoh	ras homolog family member H	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8821472	Rhoh	ras homolog family member H	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8821489	Man2a1	mannosidase alpha class 2A member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8821489	Man2a1	mannosidase alpha class 2A member 1	gene	DOID:10534	stomach cancer		ISO	RGD:735705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8821489	Man2a1	mannosidase alpha class 2A member 1	gene	DOID:1115	sarcoma		ISO	RGD:735705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8821489	Man2a1	mannosidase alpha class 2A member 1	gene	DOID:1324	lung cancer		ISO	RGD:735705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8821489	Man2a1	mannosidase alpha class 2A member 1	gene	DOID:1338	congenital dyserythropoietic anemia		ISO	RGD:735706	D	RGD:9068941	20220825	MouseDO		OMIM:105600 | OMIM:224100 | OMIM:224120 | OMIM:613673 | OMIM:615631	
8821489	Man2a1	mannosidase alpha class 2A member 1	gene	DOID:1909	melanoma		ISO	RGD:735705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8821489	Man2a1	mannosidase alpha class 2A member 1	gene	DOID:4362	cervical cancer		ISO	RGD:735705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8821489	Man2a1	mannosidase alpha class 2A member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:735705	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8821489	Man2a1	mannosidase alpha class 2A member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8821489	Man2a1	mannosidase alpha class 2A member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821489	Man2a1	mannosidase alpha class 2A member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8821489	Man2a1	mannosidase alpha class 2A member 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:735705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8821489	Man2a1	mannosidase alpha class 2A member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8821489	Man2a1	mannosidase alpha class 2A member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8821489	Man2a1	mannosidase alpha class 2A member 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735705	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
8821489	Man2a1	mannosidase alpha class 2A member 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:735706	D	RGD:9068941	20220825	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
8821489	Man2a1	mannosidase alpha class 2A member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	
8821489	Man2a1	mannosidase alpha class 2A member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:735705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8821515	Ypel5	yippee like 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821515	Ypel5	yippee like 5	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1320113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8821515	Ypel5	yippee like 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8821532	Lama3	laminin subunit alpha 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8821532	Lama3	laminin subunit alpha 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8821532	Lama3	laminin subunit alpha 3	gene	DOID:0060737	junctional epidermolysis bullosa Herlitz type		ISO	RGD:1345784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa, junctional, Herlitz-Pearson type | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz	PMID:10366601|PMID:11810295|PMID:12915477|PMID:12943669|PMID:15373767|PMID:16199547|PMID:16473856|PMID:16971478|PMID:17362460|PMID:17576681|PMID:20301304|PMID:22434185|PMID:23076207|PMID:23869449|PMID:25525159|PMID:25741868|PMID:26635394|PMID:27375110|PMID:27827380|PMID:28087116|PMID:28492532|PMID:33274474|PMID:9536098
8821532	Lama3	laminin subunit alpha 3	gene	DOID:0060738	junctional epidermolysis bullosa non-Herlitz type		ISO	RGD:1345784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type	PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:22434185|PMID:23869449|PMID:25741868|PMID:27827380|PMID:28087116|PMID:28492532
8821532	Lama3	laminin subunit alpha 3	gene	DOID:0060971	interstitial lung disease 2		ISO	RGD:1345784	D	RGD:8554872	20240702	ClinVar		ClinVar Annotator: match by term: Interstitial lung disease 2	
8821532	Lama3	laminin subunit alpha 3	gene	DOID:10534	stomach cancer		ISO	RGD:1345784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8821532	Lama3	laminin subunit alpha 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8821532	Lama3	laminin subunit alpha 3	gene	DOID:1115	sarcoma		ISO	RGD:1345784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
8821532	Lama3	laminin subunit alpha 3	gene	DOID:1909	melanoma		ISO	RGD:1345784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8821532	Lama3	laminin subunit alpha 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
8821532	Lama3	laminin subunit alpha 3	gene	DOID:3209	junctional epidermolysis bullosa		ISO	RGD:1345784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis | ClinVar Annotator: match by term: Junctional Epidermolysis Bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa | ClinVar Annotator: match by term: junctional epidermolysis bullosa	PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:17916201|PMID:22434185|PMID:23869449|PMID:25741868|PMID:27827380|PMID:28087116|PMID:28492532
8821532	Lama3	laminin subunit alpha 3	gene	DOID:3275	thymoma		ISO	RGD:1345784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8821532	Lama3	laminin subunit alpha 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8821532	Lama3	laminin subunit alpha 3	gene	DOID:4123	nail disease		ISO	RGD:1345784	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12915477
8821532	Lama3	laminin subunit alpha 3	gene	DOID:4362	cervical cancer		ISO	RGD:1345784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8821532	Lama3	laminin subunit alpha 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8821532	Lama3	laminin subunit alpha 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1345784	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8821532	Lama3	laminin subunit alpha 3	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1345784	D	RGD:9068941	20200609	RGD		DNA:hyper-methylation:promoter:	PMID:12855645|REF_RGD_ID:13793369
8821532	Lama3	laminin subunit alpha 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821532	Lama3	laminin subunit alpha 3	gene	DOID:630	genetic disease		ISO	RGD:1345784	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8821532	Lama3	laminin subunit alpha 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8821532	Lama3	laminin subunit alpha 3	gene	DOID:8549	chronic ulcer of skin		ISO	RGD:1345784	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12915477
8821532	Lama3	laminin subunit alpha 3	gene	DOID:9000850	Junctional Epidermolysis Bullosa 1A, Intermediate		ISO	RGD:1345784	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE	PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:22434185|PMID:23869449|PMID:25741868|PMID:27827380|PMID:28087116|PMID:28492532
8821532	Lama3	laminin subunit alpha 3	gene	DOID:9001145	Junctional Epidermolysis Bullosa 1B, Severe		ISO	RGD:1345784	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE	PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:17576681|PMID:22434185|PMID:23869449|PMID:25741868|PMID:27827380|PMID:28087116|PMID:28492532|PMID:9536098
8821532	Lama3	laminin subunit alpha 3	gene	DOID:9001245	Junctional Epidermolysis Bullosa 2A, Intermediate		ISO	RGD:1345784	D	RGD:7240710	20220608	OMIM			
8821532	Lama3	laminin subunit alpha 3	gene	DOID:9001245	Junctional Epidermolysis Bullosa 2A, Intermediate		ISO	RGD:1345784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, NON-HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2A, intermediate	PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:17576681|PMID:22434185|PMID:23869449|PMID:25741868|PMID:27827380|PMID:28087116|PMID:28492532|PMID:28830826|PMID:33969388|PMID:35196767|PMID:9536098
8821532	Lama3	laminin subunit alpha 3	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:1345784	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15541073
8821532	Lama3	laminin subunit alpha 3	gene	DOID:9005030	Junctional Epidermolysis Bullosa 2B, Severe		ISO	RGD:1345784	D	RGD:7240710	20220608	OMIM			
8821532	Lama3	laminin subunit alpha 3	gene	DOID:9005030	Junctional Epidermolysis Bullosa 2B, Severe		ISO	RGD:1345784	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, HERLITZ TYPE | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2B, severe	PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:20301304|PMID:22434185|PMID:23076207|PMID:23869449|PMID:25741868|PMID:27827380|PMID:28087116|PMID:28492532|PMID:8530087|PMID:8618022|PMID:8824879|PMID:8983017
8821532	Lama3	laminin subunit alpha 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8821532	Lama3	laminin subunit alpha 3	gene	DOID:9007903	Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous		ISO	RGD:1345784	D	RGD:7240710	20180130	OMIM			
8821532	Lama3	laminin subunit alpha 3	gene	DOID:9007903	Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous		ISO	RGD:1345784	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2C, LARYNGOONYCHOCUTANEOUS | ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome | ClinVar Annotator: match by term: SHABBIR SYNDROME	PMID:10366601|PMID:11810295|PMID:12915477|PMID:16199547|PMID:16473856|PMID:17362460|PMID:17576681|PMID:22434185|PMID:23869449|PMID:25741868|PMID:27827380|PMID:28087116|PMID:28492532|PMID:39688128|PMID:9536098
8821532	Lama3	laminin subunit alpha 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8821532	Lama3	laminin subunit alpha 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8821532	Lama3	laminin subunit alpha 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1345784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8821564	Fez1	fasciculation and elongation protein zeta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8821564	Fez1	fasciculation and elongation protein zeta 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8821564	Fez1	fasciculation and elongation protein zeta 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:619708	D	RGD:9068941	20200609	RGD			PMID:23888906|REF_RGD_ID:13208826
8821564	Fez1	fasciculation and elongation protein zeta 1	gene	DOID:3070	high grade glioma		ISO	RGD:732377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant glioma	
8821564	Fez1	fasciculation and elongation protein zeta 1	gene	DOID:4362	cervical cancer		ISO	RGD:732377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8821564	Fez1	fasciculation and elongation protein zeta 1	gene	DOID:5419	schizophrenia		ISO	RGD:732377	D	RGD:9068941	20250724	RGD		mRNA:decreased expression:hipocampus,dorsolateral prefrontal cortex:	PMID:16510495|REF_RGD_ID:12790585
8821564	Fez1	fasciculation and elongation protein zeta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821564	Fez1	fasciculation and elongation protein zeta 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8821564	Fez1	fasciculation and elongation protein zeta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8821564	Fez1	fasciculation and elongation protein zeta 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8821617	Stk10	serine/threonine kinase 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8821617	Stk10	serine/threonine kinase 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8821617	Stk10	serine/threonine kinase 10	gene	DOID:10534	stomach cancer		ISO	RGD:733000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8821617	Stk10	serine/threonine kinase 10	gene	DOID:1115	sarcoma		ISO	RGD:733000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8821617	Stk10	serine/threonine kinase 10	gene	DOID:3275	thymoma		ISO	RGD:733000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8821617	Stk10	serine/threonine kinase 10	gene	DOID:4362	cervical cancer		ISO	RGD:733000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8821617	Stk10	serine/threonine kinase 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821617	Stk10	serine/threonine kinase 10	gene	DOID:6039	uveal melanoma		ISO	RGD:733000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8821617	Stk10	serine/threonine kinase 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8821617	Stk10	serine/threonine kinase 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8821617	Stk10	serine/threonine kinase 10	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:733000	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8821617	Stk10	serine/threonine kinase 10	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8821617	Stk10	serine/threonine kinase 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8821617	Stk10	serine/threonine kinase 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8821648	Acadsb	acyl-CoA dehydrogenase short/branched chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8821648	Acadsb	acyl-CoA dehydrogenase short/branched chain	gene	DOID:10907	microcephaly		ISO	RGD:735869	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8821648	Acadsb	acyl-CoA dehydrogenase short/branched chain	gene	DOID:12849	autistic disorder		ISO	RGD:735869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
8821648	Acadsb	acyl-CoA dehydrogenase short/branched chain	gene	DOID:1324	lung cancer		ISO	RGD:735869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8821648	Acadsb	acyl-CoA dehydrogenase short/branched chain	gene	DOID:1909	melanoma		ISO	RGD:735869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8821648	Acadsb	acyl-CoA dehydrogenase short/branched chain	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:735869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8821648	Acadsb	acyl-CoA dehydrogenase short/branched chain	gene	DOID:4362	cervical cancer		ISO	RGD:735869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:16199547|PMID:20547083|PMID:26284228|PMID:28492532
8821648	Acadsb	acyl-CoA dehydrogenase short/branched chain	gene	DOID:630	genetic disease		ISO	RGD:735869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8821648	Acadsb	acyl-CoA dehydrogenase short/branched chain	gene	DOID:7998	hyperthyroidism		ISO	RGD:735869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
8821648	Acadsb	acyl-CoA dehydrogenase short/branched chain	gene	DOID:9003149	2-Methylbutyryl-CoA Dehydrogenase Deficiency		ISO	RGD:735869	D	RGD:7240710	20180130	OMIM			
8821648	Acadsb	acyl-CoA dehydrogenase short/branched chain	gene	DOID:9003149	2-Methylbutyryl-CoA Dehydrogenase Deficiency		ISO	RGD:735869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: 2-methylbutyryl-CoA dehydrogenase deficiency | ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase | ClinVar Annotator: match by term: Short branched-chain acyl-CoA dehydrogenase deficiency	PMID:10832746|PMID:11013134|PMID:12837870|PMID:15615815|PMID:16199547|PMID:16317551|PMID:17576681|PMID:17883863|PMID:17945527|PMID:20547083|PMID:23712021|PMID:25741868|PMID:26284228|PMID:28492532|PMID:30626930|PMID:30730842|PMID:31555323|PMID:31785789|PMID:31980526|PMID:32778825|PMID:33727708|PMID:34297361|PMID:36147814|PMID:38061323|PMID:38784038|PMID:9536098
8821648	Acadsb	acyl-CoA dehydrogenase short/branched chain	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:735869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
8821648	Acadsb	acyl-CoA dehydrogenase short/branched chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8821648	Acadsb	acyl-CoA dehydrogenase short/branched chain	gene	DOID:9008023	Memory Disorders		ISO	RGD:735869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
8821648	Acadsb	acyl-CoA dehydrogenase short/branched chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:16199547|PMID:20547083|PMID:26284228|PMID:28492532
8821648	Acadsb	acyl-CoA dehydrogenase short/branched chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8821648	Acadsb	acyl-CoA dehydrogenase short/branched chain	gene	DOID:936	brain disease		ISO	RGD:735869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:28492532
8821678	Enpp4	ectonucleotide pyrophosphatase/phosphodiesterase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8821678	Enpp4	ectonucleotide pyrophosphatase/phosphodiesterase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8821678	Enpp4	ectonucleotide pyrophosphatase/phosphodiesterase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821678	Enpp4	ectonucleotide pyrophosphatase/phosphodiesterase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8821700	Txnl1	thioredoxin like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8821700	Txnl1	thioredoxin like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8821700	Txnl1	thioredoxin like 1	gene	DOID:3275	thymoma		ISO	RGD:1354026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8821700	Txnl1	thioredoxin like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1354026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8821700	Txnl1	thioredoxin like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1354026	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8821700	Txnl1	thioredoxin like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821700	Txnl1	thioredoxin like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8821700	Txnl1	thioredoxin like 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1354026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8821700	Txnl1	thioredoxin like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8821720	Ctcfl	CCCTC-binding factor like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8821720	Ctcfl	CCCTC-binding factor like	gene	DOID:3275	thymoma		ISO	RGD:1313529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8821720	Ctcfl	CCCTC-binding factor like	gene	DOID:4362	cervical cancer		ISO	RGD:1313529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8821720	Ctcfl	CCCTC-binding factor like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8821720	Ctcfl	CCCTC-binding factor like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821720	Ctcfl	CCCTC-binding factor like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8821738	Gon7	GON7 subunit of KEOPS complex	gene	DOID:0061292	Galloway-Mowat syndrome 9		ISO	RGD:1346081	D	RGD:7240710	20211201	OMIM			
8821738	Gon7	GON7 subunit of KEOPS complex	gene	DOID:0061292	Galloway-Mowat syndrome 9		ISO	RGD:1346081	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 9	PMID:25741868
8821738	Gon7	GON7 subunit of KEOPS complex	gene	DOID:0080694	Galloway-Mowat syndrome		ISO	RGD:1346081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Galloway-Mowat syndrome	PMID:25741868
8821751	Lgi3	leucine rich repeat LGI family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8821751	Lgi3	leucine rich repeat LGI family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1322345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8821751	Lgi3	leucine rich repeat LGI family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1322345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8821751	Lgi3	leucine rich repeat LGI family member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1322345	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8821751	Lgi3	leucine rich repeat LGI family member 3	gene	DOID:9008164	INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS		ISO	RGD:1322345	D	RGD:7240710	20221214	OMIM			
8821751	Lgi3	leucine rich repeat LGI family member 3	gene	DOID:9008164	INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS		ISO	RGD:1322345	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS | ClinVar Annotator: match by term: Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects | ClinVar Annotator: match by term: LGI3-related condition | ClinVar Annotator: match by term: Peripheral nerve hyperexcitability syndrome	PMID:25741868|PMID:28492532
8821781	Ccn3	cellular communication network factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8821781	Ccn3	cellular communication network factor 3	gene	DOID:0080600	COVID-19		ISO	RGD:732996	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8821781	Ccn3	cellular communication network factor 3	gene	DOID:10534	stomach cancer	severity	ISO	RGD:732996	D	RGD:9068941	20220616	RGD		mRNA:altered expression:stomach tumor (human)	PMID:28035468|REF_RGD_ID:152995287
8821781	Ccn3	cellular communication network factor 3	gene	DOID:10591	pre-eclampsia		ISO	RGD:732996	D	RGD:9068941	20200609	RGD		protein:decreased expression:placenta (human)	PMID:16675545|REF_RGD_ID:1580971
8821781	Ccn3	cellular communication network factor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8821781	Ccn3	cellular communication network factor 3	gene	DOID:2843	long QT syndrome		ISO	RGD:732996	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8821781	Ccn3	cellular communication network factor 3	gene	DOID:4362	cervical cancer		ISO	RGD:732996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8821781	Ccn3	cellular communication network factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821811	Efcab5	EF-hand calcium binding domain 5	gene	DOID:10534	stomach cancer		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8821811	Efcab5	EF-hand calcium binding domain 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8821811	Efcab5	EF-hand calcium binding domain 5	gene	DOID:1115	sarcoma		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8821811	Efcab5	EF-hand calcium binding domain 5	gene	DOID:11830	myopia		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
8821811	Efcab5	EF-hand calcium binding domain 5	gene	DOID:1909	melanoma		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8821811	Efcab5	EF-hand calcium binding domain 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8821811	Efcab5	EF-hand calcium binding domain 5	gene	DOID:3275	thymoma		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8821811	Efcab5	EF-hand calcium binding domain 5	gene	DOID:3459	breast carcinoma		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	
8821811	Efcab5	EF-hand calcium binding domain 5	gene	DOID:480	movement disease		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
8821811	Efcab5	EF-hand calcium binding domain 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8821811	Efcab5	EF-hand calcium binding domain 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1606096	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8821811	Efcab5	EF-hand calcium binding domain 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821811	Efcab5	EF-hand calcium binding domain 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8821811	Efcab5	EF-hand calcium binding domain 5	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	
8821811	Efcab5	EF-hand calcium binding domain 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8821811	Efcab5	EF-hand calcium binding domain 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8821811	Efcab5	EF-hand calcium binding domain 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8821811	Efcab5	EF-hand calcium binding domain 5	gene	DOID:9834	hyperopia		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
8821874	Prss58	serine protease 58	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8821885	Gins3	GINS complex subunit 3	gene	DOID:0051069	Meier-Gorlin syndrome 9		ISO	RGD:1604313	D	RGD:7240710	20260311	OMIM			
8821885	Gins3	GINS complex subunit 3	gene	DOID:0051069	Meier-Gorlin syndrome 9		ISO	RGD:1604313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MEIER-GORLIN SYNDROME 9	
8821885	Gins3	GINS complex subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1604313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8821885	Gins3	GINS complex subunit 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8821885	Gins3	GINS complex subunit 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8821885	Gins3	GINS complex subunit 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8821885	Gins3	GINS complex subunit 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1604313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8821895	Xpo4	exportin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8821895	Xpo4	exportin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1323777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8821895	Xpo4	exportin 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8821895	Xpo4	exportin 4	gene	DOID:1115	sarcoma		ISO	RGD:1323777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8821895	Xpo4	exportin 4	gene	DOID:1909	melanoma		ISO	RGD:1323777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8821895	Xpo4	exportin 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8821895	Xpo4	exportin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1323777	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8821895	Xpo4	exportin 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8821895	Xpo4	exportin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821895	Xpo4	exportin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:0060320	inguinal hernia		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:0060639	permanent neonatal diabetes mellitus		ISO	RGD:1318484	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Permanent Neonatal Diabetes Mellitus	PMID:10874303|PMID:12065289|PMID:25741868|PMID:28492532|PMID:29450569
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:0090117	thiamine-responsive megaloblastic anemia syndrome		ISO	RGD:1318484	D	RGD:7240710	20180130	OMIM			
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:0090117	thiamine-responsive megaloblastic anemia syndrome		ISO	RGD:1318484	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: SLC19A2-related condition | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 1 (MEGALOBLASTIC ANEMIA, DIABETES MELLITUS, AND DEAFNESS TYPE) | ClinVar Annotator: match by term: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME	PMID:10391221|PMID:10391223|PMID:10874303|PMID:12065289|PMID:12435857|PMID:14994241|PMID:16199547|PMID:17132746|PMID:17331069|PMID:17463047|PMID:19643445|PMID:23638917|PMID:25741868|PMID:26467025|PMID:28004468|PMID:28492532|PMID:29450569|PMID:33409956|PMID:33649974|PMID:33816400|PMID:9856490
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:12270	coloboma		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:1324	lung cancer		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:10391221|PMID:10391223|PMID:10874303|PMID:16199547|PMID:19643445|PMID:25741868|PMID:28492532
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:13382	megaloblastic anemia		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megaloblastic anemia	PMID:23638917|PMID:25741868|PMID:28492532|PMID:29450569
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:13550	angle-closure glaucoma		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angle-closure glaucoma	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:25741868
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:480	movement disease		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318484	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:5723	optic atrophy		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:630	genetic disease		ISO	RGD:1318484	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19643445|PMID:25741868|PMID:28492532
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:784	chronic kidney disease		ISO	RGD:1308611	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver, heart (rat)	PMID:21149507|REF_RGD_ID:7327184
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:83	cataract		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:8955	sideroblastic anemia		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sideroblastic anemia	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318484	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:9008681	Deafness		ISO	RGD:1318484	D	RGD:9068941	20200609	RGD			PMID:10391221|REF_RGD_ID:1599325
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:9351	diabetes mellitus		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
8821926	Slc19a2	solute carrier family 19 member 2	gene	DOID:9834	hyperopia		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
8821952	Milr1	mast cell immunoglobulin like receptor 1	gene	DOID:0080600	COVID-19		ISO	RGD:1605249	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8821952	Milr1	mast cell immunoglobulin like receptor 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:8692517	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia	PMID:24033266|PMID:25741868|PMID:28492532
8821965	Prpf31	pre-mRNA processing factor 31	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1314103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:16917484|PMID:18317597|PMID:23950152|PMID:25525159|PMID:25741868|PMID:28192796|PMID:28492532|PMID:30582903|PMID:34198599
8821965	Prpf31	pre-mRNA processing factor 31	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8821965	Prpf31	pre-mRNA processing factor 31	gene	DOID:0110408	retinitis pigmentosa 11		ISO	RGD:1314103	D	RGD:7240710	20180130	OMIM			
8821965	Prpf31	pre-mRNA processing factor 31	gene	DOID:0110408	retinitis pigmentosa 11		ISO	RGD:1314103	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PRPF31-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 11 | ClinVar Annotator: match by term: Retinitis pigmentosa 11	PMID:16799052|PMID:17576681|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:25356976|PMID:25741868|PMID:27391102|PMID:28492532|PMID:28559085|PMID:29260190|PMID:29305715|PMID:29847639|PMID:30029497|PMID:30360737|PMID:30582903|PMID:31047384|PMID:31213501|PMID:31690835|PMID:31892304|PMID:32014492|PMID:32037395|PMID:32483926|PMID:32531858|PMID:33085829|PMID:33090715|PMID:33608557|PMID:33749171|PMID:33946315|PMID:34906470|PMID:35138024|PMID:36317469|PMID:36819107|PMID:8004108|PMID:9536098
8821965	Prpf31	pre-mRNA processing factor 31	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314103	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:25741868|PMID:28041643|PMID:28166811|PMID:28492532|PMID:29847639|PMID:30337596|PMID:30582903|PMID:30718709|PMID:30921587|PMID:33095315
8821965	Prpf31	pre-mRNA processing factor 31	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314103	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16199547|PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:25324289|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28512305|PMID:29260190|PMID:29847639|PMID:30337596|PMID:30582903|PMID:3071870|PMID:30718709|PMID:30921587|PMID:33090715|PMID:33095315|PMID:34906470
8821965	Prpf31	pre-mRNA processing factor 31	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314103	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16199547|PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:25324289|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28512305|PMID:29260190|PMID:29847639|PMID:30337596|PMID:30582903|PMID:3071870|PMID:30718709|PMID:30921587|PMID:31814694|PMID:33090715|PMID:33095315|PMID:34906470|PMID:36909829
8821965	Prpf31	pre-mRNA processing factor 31	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314103	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:16199547|PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:24265693|PMID:25324289|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28512305|PMID:28559085|PMID:29260190|PMID:29305715|PMID:29847639|PMID:30029497|PMID:30337596|PMID:30360737|PMID:30582903|PMID:3071870|PMID:30718709|PMID:30921587|PMID:31213501|PMID:31814694|PMID:3253185|PMID:32531858|PMID:33090715|PMID:33095315|PMID:33749171|PMID:33946315|PMID:34906470|PMID:35138024|PMID:35836572|PMID:36819107|PMID:36909829
8821965	Prpf31	pre-mRNA processing factor 31	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314103	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:16199547|PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:24265693|PMID:25324289|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28512305|PMID:28559085|PMID:29260190|PMID:29305715|PMID:29847639|PMID:30029497|PMID:30337596|PMID:30360737|PMID:30582903|PMID:3071870|PMID:30718709|PMID:30902645|PMID:30921587|PMID:31213501|PMID:31814694|PMID:3253185|PMID:32531858|PMID:33090715|PMID:33095315|PMID:33749171|PMID:33946315|PMID:34906470|PMID:35138024|PMID:35836572|PMID:36819107|PMID:36909829
8821965	Prpf31	pre-mRNA processing factor 31	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314103	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:16199547|PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:24265693|PMID:25324289|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28512305|PMID:28559085|PMID:29260190|PMID:29305715|PMID:29847639|PMID:30029497|PMID:30360737|PMID:30582903|PMID:3071870|PMID:30718709|PMID:30902645|PMID:30921587|PMID:31213501|PMID:31814694|PMID:3253185|PMID:32531858|PMID:33090715|PMID:33095315|PMID:33749171|PMID:33946315|PMID:34906470|PMID:35138024|PMID:35836572|PMID:36819107
8821965	Prpf31	pre-mRNA processing factor 31	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314103	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:16199547|PMID:18317597|PMID:23950152|PMID:25324289|PMID:25741868|PMID:28492532|PMID:28512305|PMID:29260190|PMID:30718709|PMID:30902645|PMID:30921587|PMID:31814694|PMID:32014492|PMID:32531858|PMID:33095315|PMID:34906470|PMID:36317469
8821965	Prpf31	pre-mRNA processing factor 31	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1314103	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:30718709
8821965	Prpf31	pre-mRNA processing factor 31	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8821965	Prpf31	pre-mRNA processing factor 31	gene	DOID:5679	retinal disease		ISO	RGD:1314103	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:28492532|PMID:30718709
8821965	Prpf31	pre-mRNA processing factor 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821965	Prpf31	pre-mRNA processing factor 31	gene	DOID:630	genetic disease		ISO	RGD:1314103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:37734845
8821965	Prpf31	pre-mRNA processing factor 31	gene	DOID:8501	fundus dystrophy		ISO	RGD:1314103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11545739|PMID:16199547|PMID:16799052|PMID:16917484|PMID:17003455|PMID:17325180|PMID:17576681|PMID:18317597|PMID:20861475|PMID:23343310|PMID:23950152|PMID:24202059|PMID:24265693|PMID:24664689|PMID:25356976|PMID:2552515|PMID:25525159|PMID:25741868|PMID:26872967|PMID:27208204|PMID:27898983|PMID:28041643|PMID:28157192|PMID:28192796|PMID:2825385|PMID:28492532|PMID:29785639|PMID:29847639|PMID:29957067|PMID:30582903|PMID:3071870|PMID:30718709|PMID:31047384|PMID:31054281|PMID:31106028|PMID:31892304|PMID:32014492|PMID:32037395|PMID:3253185|PMID:32531858|PMID:33608557|PMID:33749171|PMID:33946315|PMID:34198599|PMID:34906470|PMID:3513802|PMID:35836572|PMID:36338669|PMID:36460718|PMID:36819107|PMID:8808602|PMID:9536098
8821965	Prpf31	pre-mRNA processing factor 31	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8821998	Slc6a13	solute carrier family 6 member 13	gene	DOID:10534	stomach cancer		ISO	RGD:733725	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8821998	Slc6a13	solute carrier family 6 member 13	gene	DOID:1324	lung cancer		ISO	RGD:733725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8821998	Slc6a13	solute carrier family 6 member 13	gene	DOID:3275	thymoma		ISO	RGD:733725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8821998	Slc6a13	solute carrier family 6 member 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8821998	Slc6a13	solute carrier family 6 member 13	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8821998	Slc6a13	solute carrier family 6 member 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8821998	Slc6a13	solute carrier family 6 member 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8821998	Slc6a13	solute carrier family 6 member 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8821998	Slc6a13	solute carrier family 6 member 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8821998	Slc6a13	solute carrier family 6 member 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8822029	Trpc7	transient receptor potential cation channel subfamily C member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8822029	Trpc7	transient receptor potential cation channel subfamily C member 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8822029	Trpc7	transient receptor potential cation channel subfamily C member 7	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1349355	D	RGD:9068941	20220616	RGD		DNA:SNPs:: (rs11748198) (human)	PMID:27617218|REF_RGD_ID:152995362
8822029	Trpc7	transient receptor potential cation channel subfamily C member 7	gene	DOID:1909	melanoma		ISO	RGD:1349355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8822051	Egr4	early growth response 4	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:2546	D	RGD:9068941	20200609	RGD			PMID:22645329|REF_RGD_ID:10395314
8822051	Egr4	early growth response 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:0060058	lymphoma		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:1313282	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebral arteriovenous malformation	PMID:25741868
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:10488	imperforate anus		ISO	RGD:1313282	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Imperforate anus	
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:1909	melanoma		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:2043	hepatitis B		ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		associated with hepatocellular carcinoma;mRNA:increased expression:liver, blood serum (human)	PMID:21196414|REF_RGD_ID:151347673
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:3275	thymoma		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		protein:increased expression:lung (human)	PMID:33510968|REF_RGD_ID:151347681
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		human cell line in a mouse model	PMID:28306189|REF_RGD_ID:151347678
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		mRNA, protein:increased expression:lung (human)	PMID:22824148|REF_RGD_ID:151347677
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1313282	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:630	genetic disease		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:37126546
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		human cell line in a mouse model	PMID:21196414|REF_RGD_ID:151347673
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		human recombinant gene and cell line in a mouse model	PMID:27010469|REF_RGD_ID:151347674
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		human cell line in a mouse model	PMID:31922225|REF_RGD_ID:151347839
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1313282	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		mRNA:increased expression:colorectum (human)	PMID:25602366|REF_RGD_ID:151347676
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		mRNA:splicing variants:colorectum (human)	PMID:29138007|REF_RGD_ID:151347675
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		mRNA, protein:increased expression:colorectum, lymph node, blood serum (human)	PMID:27882171|REF_RGD_ID:151347679
8822074	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		protein:increased expression:colorectum (human)	PMID:20077526|REF_RGD_ID:151347680
8822107	Heatr6	HEAT repeat containing 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8822107	Heatr6	HEAT repeat containing 6	gene	DOID:0050777	Joubert syndrome		ISO	RGD:151800949	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:28492532
8822107	Heatr6	HEAT repeat containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8822107	Heatr6	HEAT repeat containing 6	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606785	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 1	PMID:28492532
8822107	Heatr6	HEAT repeat containing 6	gene	DOID:10534	stomach cancer		ISO	RGD:1606785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8822107	Heatr6	HEAT repeat containing 6	gene	DOID:1115	sarcoma		ISO	RGD:1606785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8822107	Heatr6	HEAT repeat containing 6	gene	DOID:1909	melanoma		ISO	RGD:1606785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8822107	Heatr6	HEAT repeat containing 6	gene	DOID:4362	cervical cancer		ISO	RGD:1606785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8822107	Heatr6	HEAT repeat containing 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8822107	Heatr6	HEAT repeat containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1606785	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8822107	Heatr6	HEAT repeat containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822107	Heatr6	HEAT repeat containing 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8822107	Heatr6	HEAT repeat containing 6	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8822107	Heatr6	HEAT repeat containing 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8822132	Slc25a32	solute carrier family 25 member 32	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8822132	Slc25a32	solute carrier family 25 member 32	gene	DOID:10283	prostate cancer		ISO	RGD:1605933	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:28492532
8822132	Slc25a32	solute carrier family 25 member 32	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8822132	Slc25a32	solute carrier family 25 member 32	gene	DOID:1115	sarcoma		ISO	RGD:1605933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8822132	Slc25a32	solute carrier family 25 member 32	gene	DOID:2394	ovarian cancer		ISO	RGD:1605933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8822132	Slc25a32	solute carrier family 25 member 32	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:26933868|PMID:28492532
8822132	Slc25a32	solute carrier family 25 member 32	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822132	Slc25a32	solute carrier family 25 member 32	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8822132	Slc25a32	solute carrier family 25 member 32	gene	DOID:9006878	Exercise Intolerance		ISO	RGD:1605933	D	RGD:7240710	20190315	OMIM			
8822132	Slc25a32	solute carrier family 25 member 32	gene	DOID:9006878	Exercise Intolerance		ISO	RGD:1605933	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Exercise intolerance, riboflavin-responsive | ClinVar Annotator: match by term: SLC25A32-related condition	PMID:25741868|PMID:26933868|PMID:28492532
8822132	Slc25a32	solute carrier family 25 member 32	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8822158	Bsnd	barttin CLCNK type accessory subunit beta	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1346772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness	PMID:11734858|PMID:12574213|PMID:16328537|PMID:16572343|PMID:16935888|PMID:18776122|PMID:21158220|PMID:21269598|PMID:21865213|PMID:25741868|PMID:26537508|PMID:28492532|PMID:30311386|PMID:31589614|PMID:31667618|PMID:31980526|PMID:34426522|PMID:35314707|PMID:35982159|PMID:39336818|PMID:39467922|PMID:39498320|PMID:40794449
8822158	Bsnd	barttin CLCNK type accessory subunit beta	gene	DOID:0110145	Bartter disease type 4A		ISO	RGD:1346772	D	RGD:7240710	20180130	OMIM			
8822158	Bsnd	barttin CLCNK type accessory subunit beta	gene	DOID:0110145	Bartter disease type 4A		ISO	RGD:1346772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: BSND-related condition | ClinVar Annotator: match by term: Bartter disease type 4A	PMID:11734858|PMID:12574213|PMID:16328537|PMID:16572343|PMID:16935888|PMID:18776122|PMID:21158220|PMID:21269598|PMID:21865213|PMID:24033266|PMID:25741868|PMID:26537508|PMID:28492532|PMID:30311386|PMID:30733538|PMID:31589614|PMID:31667618|PMID:31980526|PMID:32681043|PMID:34426522|PMID:34805638|PMID:35114279|PMID:35314707|PMID:35982159|PMID:39336818|PMID:39467922|PMID:39498320|PMID:40794449
8822158	Bsnd	barttin CLCNK type accessory subunit beta	gene	DOID:0110146	Bartter disease type 4b		ISO	RGD:1346772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Infantile Bartter syndrome with sensorineural deafness	PMID:11734858|PMID:12574213|PMID:16328537|PMID:16572343|PMID:16935888|PMID:18776122|PMID:21158220|PMID:21269598|PMID:21865213|PMID:25741868|PMID:26537508|PMID:28492532|PMID:30311386|PMID:31589614|PMID:31667618|PMID:31980526|PMID:34426522|PMID:35314707|PMID:35982159|PMID:39336818|PMID:39467922|PMID:39498320|PMID:40794449
8822158	Bsnd	barttin CLCNK type accessory subunit beta	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1346772	D	RGD:9068941	20200609	RGD		Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon	PMID:11687798|REF_RGD_ID:1600603
8822158	Bsnd	barttin CLCNK type accessory subunit beta	gene	DOID:445	Bartter disease		ISO	RGD:1346772	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Bartter syndrome	PMID:11687798|PMID:11734858|PMID:12111250|PMID:12574213|PMID:16199547|PMID:16328537|PMID:16572343|PMID:16583241|PMID:16773427|PMID:16935888|PMID:17954364|PMID:18776122|PMID:19025784|PMID:19096086|PMID:19646679|PMID:21269598|PMID:21541222|PMID:21865213|PMID:23967202|PMID:24033266|PMID:24902942|PMID:24949729|PMID:25741868|PMID:26467025|PMID:26537508|PMID:26857709|PMID:28012523|PMID:28492532|PMID:28555110|PMID:29254190|PMID:29986705|PMID:30174009|PMID:30303587|PMID:30311386|PMID:30733538|PMID:32608139|PMID:33348466|PMID:35628451|PMID:35709690|PMID:9463315
8822158	Bsnd	barttin CLCNK type accessory subunit beta	gene	DOID:445	Bartter disease		ISO	RGD:1346772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bartter syndrome | ClinVar Annotator: match by term: bartter syndrome	PMID:11687798|PMID:11734858|PMID:12111250|PMID:12574213|PMID:16199547|PMID:16328537|PMID:16572343|PMID:16583241|PMID:16773427|PMID:16935888|PMID:18776122|PMID:19096086|PMID:19646679|PMID:21158220|PMID:21269598|PMID:21541222|PMID:21865213|PMID:23967202|PMID:24033266|PMID:24902942|PMID:24949729|PMID:25741868|PMID:26537508|PMID:26857709|PMID:28012523|PMID:28492532|PMID:28555110|PMID:28984810|PMID:29254190|PMID:29398133|PMID:29942493|PMID:29986705|PMID:30174009|PMID:30311386|PMID:30733538|PMID:31589614|PMID:31667618|PMID:31706454|PMID:31980526|PMID:32279305|PMID:32608139|PMID:33348466|PMID:33597575|PMID:33879512|PMID:34426522|PMID:34671977|PMID:34805638|PMID:35314707|PMID:35628451|PMID:35709690|PMID:35982159|PMID:36314956|PMID:38224868|PMID:38767670|PMID:39336818|PMID:39467922|PMID:39498320|PMID:40794449|PMID:9463315
8822158	Bsnd	barttin CLCNK type accessory subunit beta	gene	DOID:630	genetic disease		ISO	RGD:1346772	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28492532
8822158	Bsnd	barttin CLCNK type accessory subunit beta	gene	DOID:9004538	Hearing Loss		ISO	RGD:1346772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:11734858|PMID:12574213|PMID:16328537|PMID:16572343|PMID:16935888|PMID:18776122|PMID:21158220|PMID:21269598|PMID:21865213|PMID:25741868|PMID:26537508|PMID:28492532|PMID:30311386|PMID:31589614|PMID:31667618|PMID:31980526|PMID:34426522|PMID:35314707|PMID:35982159|PMID:39336818|PMID:39467922|PMID:39498320|PMID:40794449
8822158	Bsnd	barttin CLCNK type accessory subunit beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8822172	Pstk	phosphoseryl-tRNA kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8822172	Pstk	phosphoseryl-tRNA kinase	gene	DOID:1115	sarcoma		ISO	RGD:1350761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8822172	Pstk	phosphoseryl-tRNA kinase	gene	DOID:1324	lung cancer		ISO	RGD:1350761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8822172	Pstk	phosphoseryl-tRNA kinase	gene	DOID:1909	melanoma		ISO	RGD:1350761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8822172	Pstk	phosphoseryl-tRNA kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8822172	Pstk	phosphoseryl-tRNA kinase	gene	DOID:3275	thymoma		ISO	RGD:1350761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8822172	Pstk	phosphoseryl-tRNA kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8822172	Pstk	phosphoseryl-tRNA kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1350761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8822172	Pstk	phosphoseryl-tRNA kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822193	Vps26a	VPS26, retromer complex component A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8822193	Vps26a	VPS26, retromer complex component A	gene	DOID:10534	stomach cancer		ISO	RGD:1343417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8822193	Vps26a	VPS26, retromer complex component A	gene	DOID:1324	lung cancer		ISO	RGD:1343417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8822193	Vps26a	VPS26, retromer complex component A	gene	DOID:1909	melanoma		ISO	RGD:1343417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8822193	Vps26a	VPS26, retromer complex component A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8822193	Vps26a	VPS26, retromer complex component A	gene	DOID:5041	esophageal cancer		ISO	RGD:1343417	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8822193	Vps26a	VPS26, retromer complex component A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822193	Vps26a	VPS26, retromer complex component A	gene	DOID:8947	diabetic retinopathy	susceptibility	ISO	RGD:1343417	D	RGD:9068941	20231026	RGD		DNA:SNP:: (rs1802295) (Human)	PMID:28821857|REF_RGD_ID:401850599
8822193	Vps26a	VPS26, retromer complex component A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8822193	Vps26a	VPS26, retromer complex component A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8822193	Vps26a	VPS26, retromer complex component A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8822193	Vps26a	VPS26, retromer complex component A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1343417	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21874001
8822193	Vps26a	VPS26, retromer complex component A	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1343417	D	RGD:9068941	20231026	RGD		associated with Environmental Illness;DNA:SNP:: (rs12242953) (human)	PMID:27281273|REF_RGD_ID:401850598
8822208	CUNH16orf86	chromosome unknown C16orf86 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822208	CUNH16orf86	chromosome unknown C16orf86 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:0050157	cryptogenic organizing pneumonia		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, lymphocyte (human)	PMID:21144722|REF_RGD_ID:5131112
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:0050851	glomerulosclerosis		ISO	RGD:731571	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:23389459|REF_RGD_ID:7245475
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:0080162	lupus nephritis	treatment	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD			PMID:22846145|REF_RGD_ID:7245541
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:0080162	lupus nephritis	treatment	ISO	RGD:731571	D	RGD:9068941	20200609	RGD			PMID:22674120|REF_RGD_ID:7245544
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20353583
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:0080600	COVID-19		ISO	RGD:1298224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19)	
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:0080745	polymyositis	severity	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:11055823|REF_RGD_ID:8661747
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD			PMID:21831964|REF_RGD_ID:7247422
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:10325	silicosis		ISO	RGD:731571	D	RGD:9068941	20200609	RGD			PMID:11208652|REF_RGD_ID:5131150
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:10457	Legionnaires' disease		ISO	RGD:731571	D	RGD:9068941	20200609	RGD			PMID:18838275|REF_RGD_ID:5131445
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:10591	pre-eclampsia		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:21505354|REF_RGD_ID:5131211
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain:	PMID:20110607|REF_RGD_ID:13825249
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid:	PMID:21978728|REF_RGD_ID:13825268
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:1074	kidney failure	severity	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		associated with Neoplasms, Plasma Cell	PMID:9650354|REF_RGD_ID:7245537
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:19916860|REF_RGD_ID:5131423
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:731571	D	RGD:9068941	20200609	RGD		protein:increased expression:lung (mouse)	PMID:21512145|REF_RGD_ID:5131206
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:11394	adult respiratory distress syndrome	severity	ISO	RGD:731571	D	RGD:9068941	20200609	RGD			PMID:11159038|REF_RGD_ID:5131147
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:11446	sciatic neuropathy		ISO	RGD:621238	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal root ganglia (rat)	PMID:11240015|REF_RGD_ID:5130963
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:11476	osteoporosis		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD			PMID:17002564|REF_RGD_ID:1625350
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:1205	allergic disease		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:12849	autistic disorder		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16139734
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:731571	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21221075|REF_RGD_ID:7245511
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:21508170|REF_RGD_ID:5131275
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:1380	endometrial cancer		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:8920779|REF_RGD_ID:5131439
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:14069	cerebral malaria		ISO	RGD:731571	D	RGD:9068941	20200609	RGD			PMID:12228317|REF_RGD_ID:5131158
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:14330	Parkinson's disease		ISO	RGD:731571	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:midbrain, dopaminergic neuron (mouse)	PMID:19780901|REF_RGD_ID:5130931
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:1520	colon carcinoma		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:1655258|REF_RGD_ID:5131434
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:2316	brain ischemia		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15829914
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19825522|REF_RGD_ID:2315115
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:289	endometriosis		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:21481092|REF_RGD_ID:5131251
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:289	endometriosis	treatment	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD			PMID:21741153|REF_RGD_ID:7247423
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:2921	glomerulonephritis		ISO	RGD:731571	D	RGD:9068941	20200609	RGD			PMID:15841213|PMID:22449555|REF_RGD_ID:7245530|REF_RGD_ID:7245546
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:2921	glomerulonephritis	treatment	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD			PMID:23400706|REF_RGD_ID:7245540
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16209246|REF_RGD_ID:6907414
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:2986	IgA glomerulonephritis	treatment	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD			PMID:9844059|REF_RGD_ID:6909132
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:3021	acute kidney failure		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		associated with Acute Lung Injury	PMID:18074478|REF_RGD_ID:5128661
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:3021	acute kidney failure		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		associated with Shock, Septic;protein:increased expression:serum	PMID:12500222|REF_RGD_ID:7245534
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:3021	acute kidney failure		ISO	RGD:731571	D	RGD:9068941	20200609	RGD			PMID:12865254|REF_RGD_ID:7245532
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum (human)	PMID:21037022|REF_RGD_ID:5131154
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:399	tuberculosis		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		DNA:snp:3' utr:g.*215C>T rs3397 (human)	PMID:20007930|REF_RGD_ID:5131209
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:399	tuberculosis		ISO	RGD:1298224	D	RGD:9068941	20260226	RGD		DNA:SNP:intron:rs496888	PMID:17284226|REF_RGD_ID:632527151
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD			PMID:20566746|REF_RGD_ID:7245512
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1298224	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:5082	liver cirrhosis		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20353583
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:5199	ureteral obstruction		ISO	RGD:621238	D	RGD:9068941	20200609	RGD			PMID:19541932|REF_RGD_ID:7245519
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:5199	ureteral obstruction		ISO	RGD:731571	D	RGD:9068941	20200609	RGD			PMID:10564241|REF_RGD_ID:7245536
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:5327	retinal detachment		ISO	RGD:731571	D	RGD:9068941	20200609	RGD			PMID:21402953|REF_RGD_ID:5131257
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:552	pneumonia		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:552	pneumonia		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		Idiopathic Pneumonia Syndrome	PMID:18664626|REF_RGD_ID:5131448
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:552	pneumonia	susceptibility	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Non-Small-Cell Lung; DNA:snp:cds:p.M196R rs1061622 (human)	PMID:20811626|REF_RGD_ID:5131286
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1298224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:5844	myocardial infarction		ISO	RGD:621238	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:left ventricle myocardium (rat)	PMID:21362018|REF_RGD_ID:5130892
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:6000	congestive heart failure		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:21135513|REF_RGD_ID:5131262
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:635	acquired immunodeficiency syndrome		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD			PMID:8548330|REF_RGD_ID:12904035
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:6543	acne	susceptibility	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.M196R(human)	PMID:20861605|REF_RGD_ID:8553023
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD			PMID:21317434|REF_RGD_ID:5131280
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:783	end stage renal disease		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma	PMID:22266663|REF_RGD_ID:7245510
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:alveolar macrophage (human)	PMID:15929959|REF_RGD_ID:5131148
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:8541	Sezary's disease		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26258847
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:8691	mycosis fungoides		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26258847
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:874	bacterial pneumonia		ISO	RGD:731571	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (mouse)	PMID:19842848|REF_RGD_ID:5131429
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:8778	Crohn's disease		ISO	RGD:621238	D	RGD:9068941	20200609	RGD		protein:increased expression:large intestine mucosa (rat)	PMID:21359923|REF_RGD_ID:5130893
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9000053	Headache		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:21036476|REF_RGD_ID:5131274
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9000169	Systemic Inflammatory Response Syndrome		ISO	RGD:621238	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:carotid body, jugular ganglion, nodose ganglion (rat)	PMID:21195213|REF_RGD_ID:5130879
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:nasal polyp (human)	PMID:19095579|REF_RGD_ID:5131442
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9001553	Spinal Cord Compression		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:21224756|REF_RGD_ID:5130917
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9001553	Spinal Cord Compression		ISO	RGD:621238	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord (rat)	PMID:21224756|REF_RGD_ID:5130917
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9001916	Fetal Death		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		associated with Endotoxemia; human protein in rat model	PMID:21187445|REF_RGD_ID:5131261
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1;protein:increased expression:serum	PMID:19073786|REF_RGD_ID:2311357
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;protein:increased expression:serum	PMID:16408124|REF_RGD_ID:7245529
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9002165	Diabetic Nephropathies	onset	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1	PMID:22266664|REF_RGD_ID:7245476
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9002211	Hyperalgesia		ISO	RGD:621238	D	RGD:9068941	20200609	RGD		associated with Sciatic Neuropathy	PMID:22652595|REF_RGD_ID:8661750
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9002211	Hyperalgesia		ISO	RGD:731571	D	RGD:9068941	20200609	RGD			PMID:18463260|REF_RGD_ID:5130960
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:21463515|REF_RGD_ID:5131255
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:621238	D	RGD:9068941	20200609	RGD			PMID:21690068|PMID:23052485|REF_RGD_ID:7245941|REF_RGD_ID:8661761
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9002589	Bone Fractures		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15071724
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9003819	Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis	severity	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, granulocyte	PMID:19690440|REF_RGD_ID:7245518
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD			PMID:19298452|REF_RGD_ID:7245520
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9004283	Transplant Rejection		ISO	RGD:621238	D	RGD:9068941	20200609	RGD			PMID:19298452|REF_RGD_ID:7245520
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9005372	Inflammation		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:21081778|REF_RGD_ID:5131265
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:21481476|REF_RGD_ID:5131250
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9006086	Intervertebral Disc Displacement		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:21057386|REF_RGD_ID:5131270
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9006617	Fatigue		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:12140350|REF_RGD_ID:8661748
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9007090	Experimental Seizures		ISO	RGD:621238	D	RGD:9068941	20241212	RGD		protein:decreased expression:hippocampus	PMID:23333565|REF_RGD_ID:7245573
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9007194	Sciatica	treatment	ISO	RGD:621238	D	RGD:9068941	20200609	RGD			PMID:22425187|REF_RGD_ID:7245944
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15044820
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9007558	Acute Experimental Pancreatitis		ISO	RGD:621238	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15164724|REF_RGD_ID:1580295
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9008569	Bronchial Spasm		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		associated with Arthritis, Rheumatoid	PMID:19340514|REF_RGD_ID:5131441
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9074	systemic lupus erythematosus	no_association	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.M196R (human)	PMID:11607787|REF_RGD_ID:7245571
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9074	systemic lupus erythematosus	severity	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:8393677|REF_RGD_ID:7245539
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1298224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9256	colorectal cancer		ISO	RGD:1298224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11882518
8822221	Tnfrsf1b	TNF receptor superfamily member 1B	gene	DOID:9970	obesity		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11782876
8822238	Folr1	folate receptor alpha	gene	DOID:0050719	cerebral folate receptor alpha deficiency		ISO	RGD:1346305	D	RGD:7240710	20180130	OMIM			
8822238	Folr1	folate receptor alpha	gene	DOID:0080074	neural tube defect		ISO	RGD:1346305	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15800851
8822238	Folr1	folate receptor alpha	gene	DOID:1059	intellectual disability		ISO	RGD:1346305	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
8822238	Folr1	folate receptor alpha	gene	DOID:1682	congenital heart disease		ISO	RGD:1346305	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17286298
8822238	Folr1	folate receptor alpha	gene	DOID:1826	epilepsy		ISO	RGD:1346305	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:19732866
8822238	Folr1	folate receptor alpha	gene	DOID:3347	osteosarcoma		ISO	RGD:1346305	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17473184
8822238	Folr1	folate receptor alpha	gene	DOID:480	movement disease		ISO	RGD:1346305	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19732866
8822238	Folr1	folate receptor alpha	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1346305	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17466904
8822238	Folr1	folate receptor alpha	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1346305	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15705887|PMID:18926688
8822238	Folr1	folate receptor alpha	gene	DOID:9005683	Metabolic Brain Diseases, Inborn		ISO	RGD:1346305	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19732866
8822238	Folr1	folate receptor alpha	gene	DOID:9005835	Congenital Abnormalities		ISO	RGD:1346305	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20235221
8822238	Folr1	folate receptor alpha	gene	DOID:9008514	Psychomotor Disorders		ISO	RGD:1346305	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19732866
8822238	Folr1	folate receptor alpha	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1346305	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15800851
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1345704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cardiomyopathy	PMID:26008905
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:0050771	pheochromocytoma		ISO	RGD:1345704	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma	PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15531530|PMID:15623805|PMID:15883710|PMID:15905695|PMID:15989954|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17208193|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19584903|PMID:19802898|PMID:20098451|PMID:20111059|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21792967|PMID:21945342|PMID:21979946|PMID:22138625|PMID:22241717|PMID:22382802|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24367056|PMID:24728327|PMID:24735130|PMID:24886695|PMID:25149476|PMID:25275255|PMID:25328978|PMID:25376524|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25819804|PMID:25985138|PMID:26096992|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28944243|PMID:29386252|PMID:29545045|PMID:29625052|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31492822|PMID:31508186|PMID:32035780|PMID:32472550|PMID:32659967|PMID:32741965|PMID:32906206|PMID:33362715|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:35582561|PMID:35626065|PMID:35938916|PMID:36149413|PMID:36597280|PMID:38473309|PMID:9536098
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:0050773	paraganglioma		ISO	RGD:1345704	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15531530|PMID:15623805|PMID:16080474|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18551016|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20111059|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22241717|PMID:22290790|PMID:22382802|PMID:22456618|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:26008905|PMID:26096992|PMID:26467025|PMID:27153395|PMID:27279923|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:29386252|PMID:30273935|PMID:30484866|PMID:32035780|PMID:34012134|PMID:34906457|PMID:9683583
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:0050773	paraganglioma		ISO	RGD:1345704	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:10323245|PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897812|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14974914|PMID:15032977|PMID:15066320|PMID:15235042|PMID:15328326|PMID:15479192|PMID:15531530|PMID:15623805|PMID:16080474|PMID:16199547|PMID:16317055|PMID:17041923|PMID:17102085|PMID:17208193|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18551016|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20111059|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22382802|PMID:22456618|PMID:22517554|PMID:22566194|PMID:22575350|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25328978|PMID:25494863|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27634942|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29510530|PMID:29545045|PMID:29625052|PMID:29681642|PMID:29777207|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31104306|PMID:31194233|PMID:31194241|PMID:31492822|PMID:31508186|PMID:31666924|PMID:32035780|PMID:32098148|PMID:32472550|PMID:32659967|PMID:32741965|PMID:33219105|PMID:33748650|PMID:34439168|PMID:34877445|PMID:34906457|PMID:35626065|PMID:35938916|PMID:8981955|PMID:9536098|PMID:9683583
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:0050773	paraganglioma		ISO	RGD:1345704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: PARAGANGLIOMATA | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12111639|PMID:12218630|PMID:12364472|PMID:12782822|PMID:12811540|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15774781|PMID:15883710|PMID:15905695|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17667967|PMID:17804857|PMID:18414213|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:19550080|PMID:19802898|PMID:19825962|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21792967|PMID:21937622|PMID:21945342|PMID:22241717|PMID:22517554|PMID:22566157|PMID:22566194|PMID:23175444|PMID:23433498|PMID:23512077|PMID:24033266|PMID:24436918|PMID:24728327|PMID:25058219|PMID:25376524|PMID:25494863|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25791839|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27073498|PMID:27153395|PMID:27700540|PMID:27856506|PMID:27867439|PMID:27913608|PMID:28492532|PMID:28552549|PMID:28873162|PMID:29386252|PMID:29504908|PMID:29925701|PMID:30050099|PMID:30273935|PMID:30484866|PMID:30951038|PMID:31834447|PMID:32035780|PMID:32561571|PMID:32971818|PMID:33219105|PMID:33391357|PMID:34072806|PMID:34439168|PMID:34750850|PMID:34906457|PMID:35582561|PMID:35668420|PMID:35966080|PMID:36149413|PMID:38144572|PMID:38473309
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:0050773	paraganglioma		ISO	RGD:1345704	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: PARAGANGLIOMATA | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paragangliomata	PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12007193|PMID:12111639|PMID:12386824|PMID:12696072|PMID:12782822|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15883710|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102085|PMID:17406045|PMID:17576205|PMID:17667967|PMID:17804857|PMID:18414213|PMID:18678321|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:19550080|PMID:19802898|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22241717|PMID:22517554|PMID:22566194|PMID:22584711|PMID:22703879|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24886695|PMID:25149476|PMID:25376524|PMID:25494863|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25819804|PMID:25985138|PMID:26096992|PMID:26467025|PMID:27153395|PMID:27279923|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:29386252|PMID:29792313|PMID:29925701|PMID:30050099|PMID:30273935|PMID:30877234|PMID:31104306|PMID:31508186|PMID:32035780|PMID:32659967|PMID:32906206|PMID:34439168|PMID:34452955|PMID:34906457|PMID:35582561|PMID:35626065|PMID:35938916|PMID:36149413|PMID:38473309
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:0050773	paraganglioma		ISO	RGD:1345704	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: PARAGANGLIOMATA | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paragangliomata	PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12007193|PMID:12111639|PMID:12386824|PMID:12696072|PMID:12782822|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15883710|PMID:16080474|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102085|PMID:17208193|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17667967|PMID:17804857|PMID:18414213|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:19550080|PMID:19802898|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22241717|PMID:22456618|PMID:22517554|PMID:22566194|PMID:22584711|PMID:22703879|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24886695|PMID:25149476|PMID:25275255|PMID:25328978|PMID:25376524|PMID:25494863|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25819804|PMID:25985138|PMID:26096992|PMID:26467025|PMID:27153395|PMID:27279923|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:29386252|PMID:29792313|PMID:29925701|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30877234|PMID:31104306|PMID:31508186|PMID:32035780|PMID:32659967|PMID:32906206|PMID:34439168|PMID:34452955|PMID:34906457|PMID:35582561|PMID:35626065|PMID:35938916|PMID:36149413|PMID:38473309
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1345704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:0060537	mitochondrial complex II deficiency		ISO	RGD:11346454	D	RGD:9068941	20260521	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex II deficiency	PMID:17102085|PMID:23175444|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28975465|PMID:30093976|PMID:31666924
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1345704	D	RGD:7240710	20190130	OMIM			
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1345704	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 1 | ClinVar Annotator: match by term: Paragangliomas 1 | ClinVar Annotator: match by term: Paragangliomas familial 1 | ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1 | ClinVar Annotator: match by term: paragangliomas 1	PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12218630|PMID:12364472|PMID:12386824|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15531530|PMID:15623805|PMID:15774781|PMID:15883710|PMID:15905695|PMID:16080474|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17208193|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18414213|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:19550080|PMID:19802898|PMID:19825962|PMID:20098451|PMID:20111059|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22382802|PMID:22456618|PMID:22517554|PMID:22566157|PMID:22566194|PMID:22584711|PMID:22703879|PMID:23175444|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24367056|PMID:24728327|PMID:24735130|PMID:24886695|PMID:25058219|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25328978|PMID:25376524|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25791839|PMID:25819804|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27073498|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27700540|PMID:27785149|PMID:27856506|PMID:27867439|PMID:27913608|PMID:28128698|PMID:28164237|PMID:28255624|PMID:28492532|PMID:28552549|PMID:28873162|PMID:29386252|PMID:29504908|PMID:29792313|PMID:29925701|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30951038|PMID:31508186|PMID:31834447|PMID:32035780|PMID:32561571|PMID:32906206|PMID:32971818|PMID:33219105|PMID:33391357|PMID:33851515|PMID:34072806|PMID:34439168|PMID:34750850|PMID:34906457|PMID:34939938|PMID:35060925|PMID:35582561|PMID:35626065|PMID:35668420|PMID:35938916|PMID:35966080|PMID:36149413|PMID:37873498|PMID:38144572|PMID:38473309
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:0080533	Carney-Stratakis syndrome		ISO	RGD:1345704	D	RGD:7240710	20180130	OMIM			
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:0080533	Carney-Stratakis syndrome		ISO	RGD:1345704	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: PARAGANGLIOMA AND GASTROINTESTINAL STROMAL TUMOR | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor	PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15531530|PMID:15623805|PMID:15883710|PMID:15905695|PMID:15989954|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17208193|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19584903|PMID:19802898|PMID:19936639|PMID:20098451|PMID:20111059|PMID:20208144|PMID:20301715|PMID:20418362|PMID:20842377|PMID:21318381|PMID:21348866|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22041456|PMID:22138625|PMID:22241717|PMID:22290790|PMID:22382802|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566157|PMID:22566194|PMID:22573489|PMID:22584711|PMID:22703879|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24367056|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24886695|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25328978|PMID:25376524|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27856506|PMID:27986441|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28944243|PMID:29386252|PMID:29510530|PMID:29545045|PMID:29625052|PMID:29777207|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31492822|PMID:31508186|PMID:31666924|PMID:32035780|PMID:32472550|PMID:32659967|PMID:32741965|PMID:32906206|PMID:33362715|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:35582561|PMID:35626065|PMID:35938916|PMID:36149413|PMID:36597280|PMID:36841802|PMID:38473309|PMID:9536098
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:0080600	COVID-19		ISO	RGD:1345704	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:10907	microcephaly		ISO	RGD:1345704	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:12783	migraine without aura		ISO	RGD:1345704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine without aura	PMID:25741868
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:1596	depressive disorder		ISO	RGD:1345704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:1826	epilepsy		ISO	RGD:1345704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:1909	melanoma		ISO	RGD:1345704	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25261935
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:3459	breast carcinoma		ISO	RGD:1345704	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:22517554|PMID:23175444|PMID:25637381|PMID:25741868|PMID:25819804|PMID:25985138|PMID:26467025|PMID:28492532|PMID:30877234|PMID:31104306|PMID:32659967|PMID:34452955
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:6457	Cowden syndrome		ISO	RGD:1345704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cowden disease	PMID:25741868|PMID:26467025
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1345704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9000586	Vocal Cord Paralysis		ISO	RGD:1345704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vocal cord paralysis	PMID:25741868
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9000727	Syncope		ISO	RGD:1345704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Carotid sinus syncope	PMID:25741868
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1345704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9002449	Glomus Jugulare Tumor		ISO	RGD:1345704	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glomus tumors familial 1	PMID:12111639|PMID:12696072|PMID:14557476|PMID:15623805|PMID:17041923|PMID:17102085|PMID:17667967|PMID:17804857|PMID:18678321|PMID:19075037|PMID:19351833|PMID:19454582|PMID:19550080|PMID:19802898|PMID:20418362|PMID:21979946|PMID:22241717|PMID:22566194|PMID:22703879|PMID:23175444|PMID:24728327|PMID:25149476|PMID:25694510|PMID:25695889|PMID:25741136|PMID:25741868|PMID:26467025|PMID:27279923|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:29386252|PMID:29792313|PMID:29925701|PMID:30273935|PMID:32035780|PMID:34439168|PMID:34906457|PMID:35582561|PMID:35626065|PMID:35938916|PMID:36149413|PMID:38473309
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9002554	Tachycardia		ISO	RGD:1345704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:25741868
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9003007	Mitochondrial Complex II Deficiency Nuclear Type 3		ISO	RGD:1345704	D	RGD:7240710	20210203	OMIM			
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9003007	Mitochondrial Complex II Deficiency Nuclear Type 3		ISO	RGD:1345704	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3	PMID:11156372|PMID:11526495|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12386824|PMID:12696072|PMID:14557476|PMID:15032977|PMID:15328326|PMID:15331017|PMID:15623805|PMID:15905695|PMID:16314641|PMID:16317055|PMID:17102082|PMID:17576205|PMID:17667967|PMID:17804857|PMID:17848412|PMID:18678321|PMID:19075037|PMID:19393419|PMID:19454582|PMID:19802898|PMID:20208144|PMID:20418362|PMID:21348866|PMID:21979946|PMID:22517554|PMID:22584711|PMID:22703879|PMID:23175444|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24728327|PMID:24735130|PMID:24886695|PMID:25149476|PMID:25376524|PMID:25694510|PMID:25695889|PMID:25741136|PMID:25741868|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:29386252|PMID:29792313|PMID:30273935|PMID:32035780|PMID:32906206|PMID:33362715|PMID:34439168|PMID:34906457|PMID:34939938|PMID:35626065|PMID:35938916|PMID:36149413|PMID:38473309
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9003055	Mitochondrial Complex II Deficiency Nuclear Type 1		ISO	RGD:11346454	D	RGD:9068941	20260521	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1	PMID:17102085|PMID:23175444|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28975465|PMID:30093976|PMID:31666924
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1345704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:25741868
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9005607	Hereditary Paraganglioma-Pheochromocytoma Syndromes		ISO	RGD:1345704	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:12007193|PMID:12111639|PMID:12386824|PMID:12696072|PMID:12782822|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15331017|PMID:15623805|PMID:15883710|PMID:16080474|PMID:16314641|PMID:16317055|PMID:17208193|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17667967|PMID:17804857|PMID:18414213|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:19802898|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21792967|PMID:21945342|PMID:21979946|PMID:22241717|PMID:22456618|PMID:22517554|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24367056|PMID:24728327|PMID:24886695|PMID:25149476|PMID:25275255|PMID:25328978|PMID:25376524|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25819804|PMID:25985138|PMID:26096992|PMID:26467025|PMID:27153395|PMID:27279923|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:29386252|PMID:29792313|PMID:30050099|PMID:30375904|PMID:30877234|PMID:31104306|PMID:31508186|PMID:32035780|PMID:32659967|PMID:32906206|PMID:34439168|PMID:34452955|PMID:34906457|PMID:35626065|PMID:35739269|PMID:35938916
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9006360	Paragangliomas with Sensorineural Hearing Loss		ISO	RGD:1345704	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss	PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15531530|PMID:15623805|PMID:15883710|PMID:15905695|PMID:15989954|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17208193|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19584903|PMID:19802898|PMID:20098451|PMID:20111059|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21792967|PMID:21945342|PMID:21979946|PMID:22138625|PMID:22241717|PMID:22382802|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24367056|PMID:24728327|PMID:24735130|PMID:24886695|PMID:25149476|PMID:25275255|PMID:25328978|PMID:25376524|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25819804|PMID:25985138|PMID:26096992|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28944243|PMID:29386252|PMID:29545045|PMID:29625052|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31492822|PMID:31508186|PMID:32035780|PMID:32472550|PMID:32659967|PMID:32741965|PMID:32906206|PMID:33362715|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:35582561|PMID:35626065|PMID:35938916|PMID:36149413|PMID:36597280|PMID:38473309|PMID:9536098
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16199547|PMID:19454582|PMID:19802898|PMID:25741868|PMID:28492532
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345704	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12386824|PMID:12612654|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20098451|PMID:20208144|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29925701|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30484866|PMID:30877234|PMID:31666924|PMID:32035780|PMID:9683583
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345704	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12612654|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29925701|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30484866|PMID:30877234|PMID:31666924|PMID:32035780|PMID:34906457|PMID:9683583
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345704	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12612654|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28255624|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29625052|PMID:29777207|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:31212687|PMID:31666924|PMID:32035780|PMID:32741965|PMID:32948182|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34906457|PMID:9536098|PMID:9683583
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345704	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12612654|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28255624|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29625052|PMID:29777207|PMID:29792313|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:31212687|PMID:31666924|PMID:32035780|PMID:32741965|PMID:32948182|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34906457|PMID:9536098|PMID:9683583
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345704	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10323245|PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897812|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28255624|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29510530|PMID:29545045|PMID:29625052|PMID:29777207|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:31212687|PMID:31492822|PMID:31666924|PMID:32035780|PMID:32741965|PMID:32948182|PMID:33219105|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34906457|PMID:35626065|PMID:35938916|PMID:9536098|PMID:9683583
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345704	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10323245|PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897812|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14974914|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15235042|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22575350|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25328978|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28255624|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29510530|PMID:29545045|PMID:29625052|PMID:29681642|PMID:29777207|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:31212687|PMID:31492822|PMID:31666924|PMID:32035780|PMID:32741965|PMID:32948182|PMID:33219105|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34906457|PMID:35626065|PMID:35938916|PMID:36614070|PMID:8981955|PMID:9536098|PMID:9683583
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345704	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10323245|PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897812|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14974914|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15235042|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17208193|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:20842377|PMID:21318381|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22041456|PMID:22138625|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22575350|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25328978|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28255624|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29510530|PMID:29545045|PMID:29625052|PMID:29681642|PMID:29777207|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31104306|PMID:31194233|PMID:31194241|PMID:31212687|PMID:31492822|PMID:31508186|PMID:31666924|PMID:32035780|PMID:32098148|PMID:32472550|PMID:32659967|PMID:32741965|PMID:32948182|PMID:32948195|PMID:33219105|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34877445|PMID:34906457|PMID:35060925|PMID:35460558|PMID:35626065|PMID:35938916|PMID:36614070|PMID:37873498|PMID:8981955|PMID:9536098|PMID:9683583
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345704	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10323245|PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897812|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14974914|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15235042|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17208193|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:20842377|PMID:21318381|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22041456|PMID:22138625|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22575350|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25328978|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28255624|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29510530|PMID:29545045|PMID:29625052|PMID:29681642|PMID:29777207|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31104306|PMID:31194233|PMID:31194241|PMID:31212687|PMID:31492822|PMID:31508186|PMID:31666924|PMID:32035780|PMID:32098148|PMID:32472550|PMID:32659967|PMID:32741965|PMID:32948182|PMID:32948195|PMID:33219105|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34877445|PMID:34906457|PMID:35060925|PMID:35460558|PMID:35626065|PMID:35938916|PMID:36614070|PMID:37873498|PMID:8981955|PMID:9536098|PMID:9683583
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345704	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10323245|PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897812|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12364472|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14974914|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15235042|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15774781|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17208193|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:20842377|PMID:21318381|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22041456|PMID:22138625|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566157|PMID:22566194|PMID:22575350|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25058219|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25328978|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26273102|PMID:26467025|PMID:27073498|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27700540|PMID:27785149|PMID:27856506|PMID:27867439|PMID:27913608|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28255624|PMID:28492532|PMID:28552549|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29504908|PMID:29510530|PMID:29545045|PMID:29625052|PMID:29681642|PMID:29777207|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31104306|PMID:31194233|PMID:31194241|PMID:31212687|PMID:31492822|PMID:31508186|PMID:31666924|PMID:31834447|PMID:32035780|PMID:32098148|PMID:32472550|PMID:32561571|PMID:32659967|PMID:32741965|PMID:32948182|PMID:32948195|PMID:32971818|PMID:33219105|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34072806|PMID:34439168|PMID:34750850|PMID:34877445|PMID:34906457|PMID:34907111|PMID:35060925|PMID:35441217|PMID:35460558|PMID:35626065|PMID:35668420|PMID:35739269|PMID:35938916|PMID:35966080|PMID:36614070|PMID:37873498|PMID:38144572|PMID:8981955|PMID:9536098|PMID:9683583
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345704	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10323245|PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897812|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12364472|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14974914|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15235042|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15774781|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17208193|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:20842377|PMID:21318381|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22041456|PMID:22138625|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566157|PMID:22566194|PMID:22575350|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25058219|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25328978|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26273102|PMID:26467025|PMID:27073498|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27700540|PMID:27785149|PMID:27856506|PMID:27867439|PMID:27913608|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28255624|PMID:28492532|PMID:28552549|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29504908|PMID:29510530|PMID:29545045|PMID:29625052|PMID:29681642|PMID:29777207|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31104306|PMID:31194233|PMID:31194241|PMID:31212687|PMID:31492822|PMID:31508186|PMID:31666924|PMID:31834447|PMID:32035780|PMID:32098148|PMID:32472550|PMID:32561571|PMID:32659967|PMID:32741965|PMID:32948182|PMID:32948195|PMID:32971818|PMID:33219105|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34072806|PMID:34439168|PMID:34750850|PMID:34877445|PMID:34906457|PMID:34907111|PMID:34939938|PMID:35060925|PMID:35441217|PMID:35460558|PMID:35626065|PMID:35668420|PMID:35739269|PMID:35938916|PMID:35966080|PMID:36614070|PMID:37873498|PMID:38144572|PMID:8981955|PMID:9536098|PMID:9683583
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345704	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10323245|PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11605159|PMID:11897812|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12364472|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14974914|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15235042|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15774781|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17208193|PMID:17308434|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:20842377|PMID:21318381|PMID:21348866|PMID:21565294|PMID:21822798|PMID:21937622|PMID:21979946|PMID:22025150|PMID:22041456|PMID:22138625|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566157|PMID:22566194|PMID:22575350|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24859990|PMID:25014000|PMID:25058219|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25328978|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26269449|PMID:26273102|PMID:26467025|PMID:27073498|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27700540|PMID:27856506|PMID:27867439|PMID:27913608|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28255624|PMID:28492532|PMID:28552549|PMID:28748451|PMID:28873162|PMID:28944243|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29504908|PMID:29510530|PMID:29545045|PMID:29625052|PMID:29681642|PMID:29777207|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31104306|PMID:31194233|PMID:31194241|PMID:31492822|PMID:31508186|PMID:31666924|PMID:31834447|PMID:32035780|PMID:32098148|PMID:32472550|PMID:32561571|PMID:32659967|PMID:32741965|PMID:32948182|PMID:32948195|PMID:32971818|PMID:33219105|PMID:33362715|PMID:33391357|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34072806|PMID:34439168|PMID:34558728|PMID:34750850|PMID:34877445|PMID:34906457|PMID:34907111|PMID:34939938|PMID:35441217|PMID:35460558|PMID:35626065|PMID:35668420|PMID:35739269|PMID:35938916|PMID:35966080|PMID:36149413|PMID:36614070|PMID:37873498|PMID:38144572|PMID:38473309|PMID:8981955|PMID:9536098|PMID:9683583
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345704	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12364472|PMID:12509798|PMID:12782822|PMID:12807974|PMID:12811540|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15774781|PMID:15883710|PMID:15905695|PMID:15989954|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21792967|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22517554|PMID:22517557|PMID:22566157|PMID:22566194|PMID:23175444|PMID:23433498|PMID:23512077|PMID:23586964|PMID:24033266|PMID:24728327|PMID:24735130|PMID:24859990|PMID:25058219|PMID:25328978|PMID:25376524|PMID:25547508|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27073498|PMID:27153395|PMID:27539324|PMID:27634942|PMID:27700540|PMID:27856506|PMID:27867439|PMID:27913608|PMID:28179334|PMID:28492532|PMID:28552549|PMID:28748451|PMID:28873162|PMID:28944243|PMID:28977582|PMID:29386252|PMID:29504908|PMID:29545045|PMID:29625052|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30549360|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31492822|PMID:31834447|PMID:32035780|PMID:32472550|PMID:32561571|PMID:32741965|PMID:32948182|PMID:32948195|PMID:32971818|PMID:33219105|PMID:33362715|PMID:33391357|PMID:33745191|PMID:34072806|PMID:34439168|PMID:34558728|PMID:34750850|PMID:34906457|PMID:34939938|PMID:35441217|PMID:35460558|PMID:35582561|PMID:35668420|PMID:35966080|PMID:36149413|PMID:36597280|PMID:36614070|PMID:38144572|PMID:38473309|PMID:9536098
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345704	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15623805|PMID:15883710|PMID:15905695|PMID:15989954|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17406045|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21792967|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:23175444|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24367056|PMID:24728327|PMID:24735130|PMID:24859990|PMID:24886695|PMID:25149476|PMID:25328978|PMID:25376524|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25819804|PMID:25985138|PMID:26096992|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28944243|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29625052|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31492822|PMID:31508186|PMID:32035780|PMID:32472550|PMID:32659967|PMID:32741965|PMID:32906206|PMID:32948182|PMID:32948195|PMID:33362715|PMID:33745191|PMID:34439168|PMID:34452955|PMID:34558728|PMID:34906457|PMID:34939938|PMID:35441217|PMID:35460558|PMID:35582561|PMID:35626065|PMID:35938916|PMID:36149413|PMID:36597280|PMID:36614070|PMID:38473309|PMID:9536098
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345704	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15623805|PMID:15883710|PMID:15905695|PMID:15989954|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17208193|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21792967|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:23175444|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24367056|PMID:24728327|PMID:24735130|PMID:24859990|PMID:24886695|PMID:25149476|PMID:25275255|PMID:25328978|PMID:25376524|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25819804|PMID:25985138|PMID:26096992|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28944243|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29625052|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31492822|PMID:31508186|PMID:32035780|PMID:32472550|PMID:32659967|PMID:32741965|PMID:32906206|PMID:32948182|PMID:32948195|PMID:33362715|PMID:33745191|PMID:34439168|PMID:34452955|PMID:34558728|PMID:34906457|PMID:34939938|PMID:35441217|PMID:35460558|PMID:35582561|PMID:35626065|PMID:35938916|PMID:36149413|PMID:36597280|PMID:36614070|PMID:38473309|PMID:9536098
8822261	Sdhd	succinate dehydrogenase complex subunit D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8822272	Susd6	sushi domain containing 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8822272	Susd6	sushi domain containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8822272	Susd6	sushi domain containing 6	gene	DOID:10534	stomach cancer		ISO	RGD:1349623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8822272	Susd6	sushi domain containing 6	gene	DOID:3275	thymoma		ISO	RGD:1349623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8822272	Susd6	sushi domain containing 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8822272	Susd6	sushi domain containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1349623	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8822272	Susd6	sushi domain containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822272	Susd6	sushi domain containing 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8822272	Susd6	sushi domain containing 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8822290	Pim2	Pim-2 proto-oncogene, serine/threonine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8822290	Pim2	Pim-2 proto-oncogene, serine/threonine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8822290	Pim2	Pim-2 proto-oncogene, serine/threonine kinase	gene	DOID:0060058	lymphoma		ISO	RGD:1347613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8822290	Pim2	Pim-2 proto-oncogene, serine/threonine kinase	gene	DOID:1115	sarcoma		ISO	RGD:1347613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8822290	Pim2	Pim-2 proto-oncogene, serine/threonine kinase	gene	DOID:1909	melanoma		ISO	RGD:1347613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8822290	Pim2	Pim-2 proto-oncogene, serine/threonine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822290	Pim2	Pim-2 proto-oncogene, serine/threonine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8822290	Pim2	Pim-2 proto-oncogene, serine/threonine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347613	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19458359
8822301	Snx30	sorting nexin family member 30	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8822301	Snx30	sorting nexin family member 30	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8822301	Snx30	sorting nexin family member 30	gene	DOID:1115	sarcoma		ISO	RGD:1601789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8822301	Snx30	sorting nexin family member 30	gene	DOID:1909	melanoma		ISO	RGD:1601789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8822301	Snx30	sorting nexin family member 30	gene	DOID:3275	thymoma		ISO	RGD:1601789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8822301	Snx30	sorting nexin family member 30	gene	DOID:4362	cervical cancer		ISO	RGD:1601789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8822301	Snx30	sorting nexin family member 30	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822301	Snx30	sorting nexin family member 30	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8822301	Snx30	sorting nexin family member 30	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8822301	Snx30	sorting nexin family member 30	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8822320	Pard6g	par-6 family cell polarity regulator gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822338	Lyset	lysosomal enzyme trafficking factor	gene	DOID:1059	intellectual disability		ISO	RGD:1349199	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8822338	Lyset	lysosomal enzyme trafficking factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8822338	Lyset	lysosomal enzyme trafficking factor	gene	DOID:9005886	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE		ISO	RGD:1349199	D	RGD:7240710	20210818	OMIM			
8822338	Lyset	lysosomal enzyme trafficking factor	gene	DOID:9005886	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE		ISO	RGD:1349199	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE | ClinVar Annotator: match by term: Dysostosis multiplex, Ain-Naz type	PMID:25741868
8822344	Acmsd	aminocarboxymuconate semialdehyde decarboxylase	gene	DOID:1074	kidney failure		ISO	RGD:620868	D	RGD:9068941	20200609	RGD			PMID:10966936|REF_RGD_ID:13831124
8822344	Acmsd	aminocarboxymuconate semialdehyde decarboxylase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620868	D	RGD:9068941	20200609	RGD			PMID:19169727|REF_RGD_ID:13831126
8822344	Acmsd	aminocarboxymuconate semialdehyde decarboxylase	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:620868	D	RGD:9068941	20200609	RGD			PMID:12042425|REF_RGD_ID:13831125
8822344	Acmsd	aminocarboxymuconate semialdehyde decarboxylase	gene	DOID:9006832	Puromycin Aminonucleoside Nephrosis		ISO	RGD:620868	D	RGD:9068941	20200609	RGD			PMID:16711654|REF_RGD_ID:13831123
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:0050770	polycystic liver disease		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital cystic disease of liver	PMID:19862844|PMID:25741868|PMID:28492532|PMID:35778421|PMID:39899384
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313512	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:0060976	polycystic liver disease 3		ISO	RGD:1313512	D	RGD:7240710	20190315	OMIM			
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:0060976	polycystic liver disease 3		ISO	RGD:1313512	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS | ClinVar Annotator: match by term: Polycystic liver disease 3 with or without kidney cysts	PMID:16199547|PMID:17576681|PMID:19862844|PMID:25741868|PMID:26066342|PMID:28375157|PMID:28492532|PMID:35778421|PMID:36574950|PMID:38012624|PMID:39899384|PMID:9536098
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:0080560	congenital disorder of glycosylation Ih		ISO	RGD:1313512	D	RGD:7240710	20180130	OMIM			
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:0080560	congenital disorder of glycosylation Ih		ISO	RGD:1313512	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: CDG Ih | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih	PMID:12480927|PMID:15235028|PMID:16199547|PMID:17576681|PMID:19648040|PMID:19688606|PMID:19862844|PMID:23806237|PMID:25428507|PMID:25640679|PMID:25741868|PMID:26066342|PMID:26653770|PMID:28106320|PMID:28375157|PMID:28492532|PMID:28940310|PMID:35211808|PMID:35716054|PMID:35778421|PMID:36574950|PMID:37628703|PMID:9536098
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:0080560	congenital disorder of glycosylation Ih		ISO	RGD:1313512	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALG8-related disorder | ClinVar Annotator: match by term: CDG Ih | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1H	PMID:16199547|PMID:19862844|PMID:23806237|PMID:25741868|PMID:26066342|PMID:28375157|PMID:28492532|PMID:28940310|PMID:35778421|PMID:36574950|PMID:38012624|PMID:39899384
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:10907	microcephaly		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:23806237|PMID:28492532|PMID:28940310
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:1459	hypothyroidism		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:23806237|PMID:28492532|PMID:28940310
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:1682	congenital heart disease		ISO	RGD:1313512	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:19862844|PMID:25741868|PMID:26066342|PMID:28375157|PMID:28492532|PMID:36574950|PMID:39899384
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:2975	cystic kidney disease		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cystic renal disease | ClinVar Annotator: match by term: Familial cystic renal disease	PMID:19688606|PMID:19862844|PMID:25741868|PMID:26066342|PMID:28106320|PMID:28375157|PMID:28492532|PMID:36574950|PMID:37628703|PMID:39899384
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1313512	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1313512	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:26066342|PMID:28375157|PMID:28492532|PMID:35778421|PMID:9536098
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:784	chronic kidney disease		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: chronic kidney disease	PMID:25741868|PMID:28492532
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:8488	polyhydramnios		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:23806237|PMID:28492532|PMID:28940310
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:23806237|PMID:28492532|PMID:28940310
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:9000781	Cyanosis		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cyanosis	PMID:23806237|PMID:28492532|PMID:28940310
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:9000892	Fetal Distress		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal distress	PMID:23806237|PMID:28492532|PMID:28940310
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:9003133	Hypertelorism		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:23806237|PMID:28492532|PMID:28940310
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:9004992	Apnea		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	PMID:23806237|PMID:28492532|PMID:28940310
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:23806237|PMID:25741868|PMID:28492532|PMID:28940310
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:9005616	Micrognathism		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:23806237|PMID:28492532|PMID:28940310
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:9007817	Macroglossia		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:23806237|PMID:28492532|PMID:28940310
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8822385	Alg8	ALG8 alpha-1,3-glucosyltransferase	gene	DOID:9008539	Perinatal Death		ISO	RGD:1313512	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neonatal death	PMID:19862844|PMID:25741868|PMID:26066342|PMID:28375157|PMID:28492532|PMID:36574950|PMID:39899384
8822405	E2f6	E2F transcription factor 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8822405	E2f6	E2F transcription factor 6	gene	DOID:0111853	primary ciliary dyskinesia 40		ISO	RGD:1605732	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 40	PMID:25741868
8822405	E2f6	E2F transcription factor 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8822405	E2f6	E2F transcription factor 6	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1605732	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29754146
8822405	E2f6	E2F transcription factor 6	gene	DOID:4362	cervical cancer		ISO	RGD:1605732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8822405	E2f6	E2F transcription factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822405	E2f6	E2F transcription factor 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8822405	E2f6	E2F transcription factor 6	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:1605732	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35225430
8822405	E2f6	E2F transcription factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8822421	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8822421	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8822421	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8822421	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8822421	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8822421	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8822421	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8822421	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8822421	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316733	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8822421	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8822421	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822421	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8822421	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1316733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26443449
8822421	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8822421	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8822421	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8822495	Hus1	HUS1 checkpoint clamp component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8822495	Hus1	HUS1 checkpoint clamp component	gene	DOID:1115	sarcoma		ISO	RGD:1318030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8822495	Hus1	HUS1 checkpoint clamp component	gene	DOID:1324	lung cancer		ISO	RGD:1318030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8822495	Hus1	HUS1 checkpoint clamp component	gene	DOID:2394	ovarian cancer		ISO	RGD:1318030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8822495	Hus1	HUS1 checkpoint clamp component	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8822495	Hus1	HUS1 checkpoint clamp component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822495	Hus1	HUS1 checkpoint clamp component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8822495	Hus1	HUS1 checkpoint clamp component	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8822495	Hus1	HUS1 checkpoint clamp component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8822511	Tns2	tensin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8822511	Tns2	tensin 2	gene	DOID:0060852	Pierson syndrome		ISO	RGD:1615728	D	RGD:9068941	20220825	MouseDO		OMIM:609049	
8822511	Tns2	tensin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8822511	Tns2	tensin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
8822511	Tns2	tensin 2	gene	DOID:1115	sarcoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
8822511	Tns2	tensin 2	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1322097	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:25741868|PMID:28492532|PMID:29773874
8822511	Tns2	tensin 2	gene	DOID:1324	lung cancer		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8822511	Tns2	tensin 2	gene	DOID:1909	melanoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
8822511	Tns2	tensin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
8822511	Tns2	tensin 2	gene	DOID:3070	high grade glioma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8822511	Tns2	tensin 2	gene	DOID:3275	thymoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8822511	Tns2	tensin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8822511	Tns2	tensin 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
8822511	Tns2	tensin 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8822511	Tns2	tensin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322097	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8822511	Tns2	tensin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8822511	Tns2	tensin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
8822511	Tns2	tensin 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8822511	Tns2	tensin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8822511	Tns2	tensin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8822511	Tns2	tensin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
8822557	Slc8a2	solute carrier family 8 member A2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731774	D	RGD:9068941	20200609	RGD		protein:altered expression:synaptosome:	PMID:21382638|REF_RGD_ID:13628395
8822557	Slc8a2	solute carrier family 8 member A2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8822557	Slc8a2	solute carrier family 8 member A2	gene	DOID:1324	lung cancer		ISO	RGD:731774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8822557	Slc8a2	solute carrier family 8 member A2	gene	DOID:1824	status epilepticus		ISO	RGD:620194	D	RGD:9068941	20200609	RGD			PMID:15461673|REF_RGD_ID:2316980
8822557	Slc8a2	solute carrier family 8 member A2	gene	DOID:1909	melanoma		ISO	RGD:731774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8822557	Slc8a2	solute carrier family 8 member A2	gene	DOID:2316	brain ischemia		ISO	RGD:620194	D	RGD:9068941	20200609	RGD			PMID:16107787|REF_RGD_ID:2316979
8822557	Slc8a2	solute carrier family 8 member A2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8822557	Slc8a2	solute carrier family 8 member A2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731774	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8822557	Slc8a2	solute carrier family 8 member A2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620194	D	RGD:9068941	20200609	RGD			PMID:18037393|REF_RGD_ID:2316975
8822589	Zbtb22	zinc finger and BTB domain containing 22	gene	DOID:1115	sarcoma		ISO	RGD:1352119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8822607	Akap13	A-kinase anchoring protein 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8822607	Akap13	A-kinase anchoring protein 13	gene	DOID:10534	stomach cancer		ISO	RGD:736118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8822607	Akap13	A-kinase anchoring protein 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8822607	Akap13	A-kinase anchoring protein 13	gene	DOID:1115	sarcoma		ISO	RGD:736118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8822607	Akap13	A-kinase anchoring protein 13	gene	DOID:1324	lung cancer		ISO	RGD:736118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8822607	Akap13	A-kinase anchoring protein 13	gene	DOID:1909	melanoma		ISO	RGD:736118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8822607	Akap13	A-kinase anchoring protein 13	gene	DOID:3275	thymoma		ISO	RGD:736118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8822607	Akap13	A-kinase anchoring protein 13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8822607	Akap13	A-kinase anchoring protein 13	gene	DOID:4362	cervical cancer		ISO	RGD:736118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8822607	Akap13	A-kinase anchoring protein 13	gene	DOID:4450	renal cell carcinoma		ISO	RGD:736118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138691
8822607	Akap13	A-kinase anchoring protein 13	gene	DOID:5041	esophageal cancer		ISO	RGD:736118	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8822607	Akap13	A-kinase anchoring protein 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822607	Akap13	A-kinase anchoring protein 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8822607	Akap13	A-kinase anchoring protein 13	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:736118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17068819
8822607	Akap13	A-kinase anchoring protein 13	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28319090
8822607	Akap13	A-kinase anchoring protein 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8822607	Akap13	A-kinase anchoring protein 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8822607	Akap13	A-kinase anchoring protein 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8822652	Wdr18	WD repeat domain 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8822652	Wdr18	WD repeat domain 18	gene	DOID:1324	lung cancer		ISO	RGD:1321673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8822652	Wdr18	WD repeat domain 18	gene	DOID:3275	thymoma		ISO	RGD:1321673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8822652	Wdr18	WD repeat domain 18	gene	DOID:4362	cervical cancer		ISO	RGD:1321673	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8822652	Wdr18	WD repeat domain 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1321673	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8822652	Wdr18	WD repeat domain 18	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8822652	Wdr18	WD repeat domain 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822652	Wdr18	WD repeat domain 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8822652	Wdr18	WD repeat domain 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8822652	Wdr18	WD repeat domain 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8822692	Rufy4	RUN and FYVE domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8822692	Rufy4	RUN and FYVE domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1602820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8822692	Rufy4	RUN and FYVE domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822692	Rufy4	RUN and FYVE domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8822692	Rufy4	RUN and FYVE domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8822708	Mon2	MON2 homolog, regulator of endosome-to-Golgi trafficking	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8822708	Mon2	MON2 homolog, regulator of endosome-to-Golgi trafficking	gene	DOID:10534	stomach cancer		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8822708	Mon2	MON2 homolog, regulator of endosome-to-Golgi trafficking	gene	DOID:1115	sarcoma		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8822708	Mon2	MON2 homolog, regulator of endosome-to-Golgi trafficking	gene	DOID:1324	lung cancer		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8822708	Mon2	MON2 homolog, regulator of endosome-to-Golgi trafficking	gene	DOID:1909	melanoma		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8822708	Mon2	MON2 homolog, regulator of endosome-to-Golgi trafficking	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8822708	Mon2	MON2 homolog, regulator of endosome-to-Golgi trafficking	gene	DOID:3275	thymoma		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8822708	Mon2	MON2 homolog, regulator of endosome-to-Golgi trafficking	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8822708	Mon2	MON2 homolog, regulator of endosome-to-Golgi trafficking	gene	DOID:4362	cervical cancer		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8822708	Mon2	MON2 homolog, regulator of endosome-to-Golgi trafficking	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604635	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8822708	Mon2	MON2 homolog, regulator of endosome-to-Golgi trafficking	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604635	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8822708	Mon2	MON2 homolog, regulator of endosome-to-Golgi trafficking	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822708	Mon2	MON2 homolog, regulator of endosome-to-Golgi trafficking	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8822708	Mon2	MON2 homolog, regulator of endosome-to-Golgi trafficking	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8822708	Mon2	MON2 homolog, regulator of endosome-to-Golgi trafficking	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8822755	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8822755	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8822755	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8822755	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8822755	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8822755	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8822755	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8822755	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8822755	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822755	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8822755	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8822755	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:9002189	High Myopia		ISO	RGD:1353290	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
8822755	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8822781	Idh3g	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8822781	Idh3g	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:0061127	retinitis pigmentosa 99		ISO	RGD:731354	D	RGD:7240710	20260701	OMIM			
8822781	Idh3g	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:0061127	retinitis pigmentosa 99		ISO	RGD:731354	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 99	
8822781	Idh3g	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:10534	stomach cancer		ISO	RGD:731354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8822781	Idh3g	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:156439260	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614
8822781	Idh3g	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:12835	quadriplegia		ISO	RGD:731354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraplegia	PMID:25741868
8822781	Idh3g	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:1909	melanoma		ISO	RGD:731354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8822781	Idh3g	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:3275	thymoma		ISO	RGD:731354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8822781	Idh3g	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:5041	esophageal cancer		ISO	RGD:731354	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8822781	Idh3g	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822781	Idh3g	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:731354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8822781	Idh3g	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8822781	Idh3g	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8822797	Tead2	TEA domain transcription factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8822797	Tead2	TEA domain transcription factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8822797	Tead2	TEA domain transcription factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8822797	Tead2	TEA domain transcription factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8822797	Tead2	TEA domain transcription factor 2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1344942	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8822797	Tead2	TEA domain transcription factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8822797	Tead2	TEA domain transcription factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8822797	Tead2	TEA domain transcription factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8822797	Tead2	TEA domain transcription factor 2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8822797	Tead2	TEA domain transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822797	Tead2	TEA domain transcription factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8822797	Tead2	TEA domain transcription factor 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8822797	Tead2	TEA domain transcription factor 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8822797	Tead2	TEA domain transcription factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8822847	Mettl27	methyltransferase like 27	gene	DOID:10534	stomach cancer		ISO	RGD:1352777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8822847	Mettl27	methyltransferase like 27	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8822847	Mettl27	methyltransferase like 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8822847	Mettl27	methyltransferase like 27	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1352777	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8822861	Foxr1	forkhead box R1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8822861	Foxr1	forkhead box R1	gene	DOID:1324	lung cancer		ISO	RGD:1320240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8822861	Foxr1	forkhead box R1	gene	DOID:3070	high grade glioma		ISO	RGD:1320240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8822861	Foxr1	forkhead box R1	gene	DOID:3275	thymoma		ISO	RGD:1320240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8822871	Cd28	CD28 molecule	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:735932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437031
8822871	Cd28	CD28 molecule	gene	DOID:0050749	peripheral T-cell lymphoma		ISO	RGD:735932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916
8822871	Cd28	CD28 molecule	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:735932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916|PMID:26258847
8822871	Cd28	CD28 molecule	gene	DOID:0061089	immunodeficiency 123		ISO	RGD:735932	D	RGD:7240710	20240918	OMIM			
8822871	Cd28	CD28 molecule	gene	DOID:0061089	immunodeficiency 123		ISO	RGD:735932	D	RGD:8554872	20240924	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 123 with HPV-related verrucosis	
8822871	Cd28	CD28 molecule	gene	DOID:10322	berylliosis		ISO	RGD:735932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12952926
8822871	Cd28	CD28 molecule	gene	DOID:11713	diabetic angiopathy		ISO	RGD:735932	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:T cell	PMID:15504310|REF_RGD_ID:2307197
8822871	Cd28	CD28 molecule	gene	DOID:1240	leukemia		ISO	RGD:735932	D	RGD:9068941	20200609	RGD			PMID:19075187|REF_RGD_ID:5131619
8822871	Cd28	CD28 molecule	gene	DOID:12662	paracoccidioidomycosis		ISO	RGD:10307	D	RGD:9068941	20200609	RGD			PMID:20713624|REF_RGD_ID:5131616
8822871	Cd28	CD28 molecule	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:735932	D	RGD:9068941	20200609	RGD			PMID:18056387|REF_RGD_ID:5131621
8822871	Cd28	CD28 molecule	gene	DOID:2377	multiple sclerosis		ISO	RGD:735932	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-372G>A (human)	PMID:14975605|REF_RGD_ID:1358478
8822871	Cd28	CD28 molecule	gene	DOID:2841	asthma		ISO	RGD:735932	D	RGD:9068941	20200609	RGD			PMID:21356099|REF_RGD_ID:5131612
8822871	Cd28	CD28 molecule	gene	DOID:3082	interstitial lung disease		ISO	RGD:735932	D	RGD:9068941	20200609	RGD			PMID:20030671|REF_RGD_ID:5131613
8822871	Cd28	CD28 molecule	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:735932	D	RGD:9068941	20200609	RGD			PMID:18057064|REF_RGD_ID:5131620
8822871	Cd28	CD28 molecule	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:735932	D	RGD:9068941	20200609	RGD		CD28 null allele is increased in COPD	PMID:19220836|REF_RGD_ID:5131618
8822871	Cd28	CD28 molecule	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:10307	D	RGD:9068941	20200609	RGD			PMID:20395561|REF_RGD_ID:4892281
8822871	Cd28	CD28 molecule	gene	DOID:417	autoimmune disease		ISO	RGD:735932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15494542|PMID:19077085
8822871	Cd28	CD28 molecule	gene	DOID:4362	cervical cancer		ISO	RGD:735932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8822871	Cd28	CD28 molecule	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8822871	Cd28	CD28 molecule	gene	DOID:4483	rhinitis		ISO	RGD:735932	D	RGD:9068941	20200609	RGD			PMID:21356099|REF_RGD_ID:5131612
8822871	Cd28	CD28 molecule	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:735932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7492435
8822871	Cd28	CD28 molecule	gene	DOID:614	lymphopenia		ISO	RGD:2299	D	RGD:9068941	20200609	RGD			PMID:12750179|REF_RGD_ID:2307205
8822871	Cd28	CD28 molecule	gene	DOID:6432	pulmonary hypertension		ISO	RGD:735932	D	RGD:9068941	20200609	RGD			PMID:19075187|REF_RGD_ID:5131619
8822871	Cd28	CD28 molecule	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:735932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19898481|PMID:20453842|PMID:23143596
8822871	Cd28	CD28 molecule	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:735932	D	RGD:9068941	20200609	RGD			PMID:19075187|REF_RGD_ID:5131619
8822871	Cd28	CD28 molecule	gene	DOID:8544	chronic fatigue syndrome		ISO	RGD:735932	D	RGD:9068941	20200609	RGD			PMID:18801465|REF_RGD_ID:5131614
8822871	Cd28	CD28 molecule	gene	DOID:9001341	Chloracne		ISO	RGD:735932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
8822871	Cd28	CD28 molecule	gene	DOID:9001488	Human Influenza		ISO	RGD:10307	D	RGD:9068941	20200609	RGD			PMID:21389258|REF_RGD_ID:5131611
8822871	Cd28	CD28 molecule	gene	DOID:9002311	Experimental Autoimmune Myocarditis	severity	ISO	RGD:10307	D	RGD:9068941	20200609	RGD			PMID:8759765|REF_RGD_ID:13702883
8822871	Cd28	CD28 molecule	gene	DOID:9002311	Experimental Autoimmune Myocarditis	treatment	ISO	RGD:2299	D	RGD:9068941	20200609	RGD			PMID:19907173|REF_RGD_ID:13702882
8822871	Cd28	CD28 molecule	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2299	D	RGD:9068941	20200609	RGD			PMID:18601859|REF_RGD_ID:2307202
8822871	Cd28	CD28 molecule	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:2299	D	RGD:9068941	20200609	RGD			PMID:16061730|REF_RGD_ID:2307203
8822871	Cd28	CD28 molecule	gene	DOID:9004484	Sepsis	severity	ISO	RGD:735932	D	RGD:9068941	20200609	RGD		Higher soluble CD28 in patients who died	PMID:17989345|REF_RGD_ID:5131622
8822871	Cd28	CD28 molecule	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:10307	D	RGD:9068941	20200609	RGD			PMID:11160314|REF_RGD_ID:2307200
8822871	Cd28	CD28 molecule	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:2299	D	RGD:9068941	20200609	RGD			PMID:12864982|REF_RGD_ID:2307204
8822871	Cd28	CD28 molecule	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:10307	D	RGD:9068941	20200609	RGD			PMID:9410902|REF_RGD_ID:2307201
8822871	Cd28	CD28 molecule	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:735932	D	RGD:9068941	20200609	RGD		protein:decreased expression:T cell	PMID:15504310|REF_RGD_ID:2307197
8822871	Cd28	CD28 molecule	gene	DOID:9744	type 1 diabetes mellitus	onset	ISO	RGD:735932	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron (human)	PMID:11685455|REF_RGD_ID:2307199
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:0050817	Stargardt disease		ISO	RGD:1342597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: STGD	PMID:28492532
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:0061241	Stargardt disease 1		ISO	RGD:1342597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Stargardt disease 1	PMID:28492532
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:0061271	liver glycogen storage disease		ISO	RGD:1342597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LIVER GLYCOGEN SYNTHASE DEFICIENCY	PMID:28492532
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:0070266	congenital disorder of glycosylation type IIn		ISO	RGD:1342597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CDG IIn	PMID:28492532
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:0070751	mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures		ISO	RGD:1342597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	PMID:28492532
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:0080626	corticosterone methyloxidase deficiency 1		ISO	RGD:1342597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 18 alpha hydroxylase deficiency	PMID:28492532
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:0110633	rigid spine muscular dystrophy 1		ISO	RGD:1342597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 3 WITH RIGID SPINE	PMID:28492532
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:0111496	combined oxidative phosphorylation deficiency 17		ISO	RGD:1342597	D	RGD:7240710	20260603	OMIM			
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:0111496	combined oxidative phosphorylation deficiency 17		ISO	RGD:1342597	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 17 | ClinVar Annotator: match by term: ELAC2-related condition	PMID:25741868|PMID:27769300|PMID:28492532|PMID:31045291
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:1059	intellectual disability		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:10907	microcephaly		ISO	RGD:1342597	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:1115	sarcoma		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:23849775|PMID:25741868|PMID:27769300|PMID:28492532|PMID:31045291
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:27769300|PMID:28492532|PMID:31045291
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:1324	lung cancer		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:1909	melanoma		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16199547|PMID:27769300|PMID:28492532|PMID:31045291
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:3275	thymoma		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:4362	cervical cancer		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1342597	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:28492532
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:28492532|PMID:9536098
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:583	hemolytic anemia		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia	PMID:23849775|PMID:25741868|PMID:28492532
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:630	genetic disease		ISO	RGD:1342597	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:23849775|PMID:25741868|PMID:27769300|PMID:28492532|PMID:31045291|PMID:32685970|PMID:34056100|PMID:34732400|PMID:9536098
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1342597	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16114055
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:9002356	Prostate Cancer, Hereditary, 2		ISO	RGD:1342597	D	RGD:7240710	20260603	OMIM			
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:9002356	Prostate Cancer, Hereditary, 2		ISO	RGD:1342597	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ELAC2-related condition | ClinVar Annotator: match by term: PROSTATE CANCER, HEREDITARY, 2 | ClinVar Annotator: match by term: Prostate cancer, hereditary, 2	PMID:11254448|PMID:16199547|PMID:25741868|PMID:27769300|PMID:28492532|PMID:31045291|PMID:35946480
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:9009220	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES		ISO	RGD:1342597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	PMID:28492532
8822883	Elac2	elaC ribonuclease Z 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8822933	Fam178b	family with sequence similarity 178 member B	gene	DOID:1115	sarcoma		ISO	RGD:1605679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8822956	Naip	NLR family apoptosis inhibitory protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8822956	Naip	NLR family apoptosis inhibitory protein	gene	DOID:0050773	paraganglioma	exacerbates	ISO	RGD:1343112	D	RGD:9068941	20220818	RGD		mRNA:increased expression:adrenal gland, chromaffin cell (human)	PMID:31964418|REF_RGD_ID:153344516
8822956	Naip	NLR family apoptosis inhibitory protein	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1343112	D	RGD:9068941	20220721	RGD		protein:increased expression:oral cavity (human)	PMID:20967871|REF_RGD_ID:152999012
8822956	Naip	NLR family apoptosis inhibitory protein	gene	DOID:0060108	brain glioma	exacerbates	ISO	RGD:1343112	D	RGD:9068941	20220818	RGD		mRNA:increased expression:brain (human)	PMID:31964418|REF_RGD_ID:153344516
8822956	Naip	NLR family apoptosis inhibitory protein	gene	DOID:0080600	COVID-19		ISO	RGD:1343112	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8822956	Naip	NLR family apoptosis inhibitory protein	gene	DOID:1909	melanoma		ISO	RGD:1343112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8822956	Naip	NLR family apoptosis inhibitory protein	gene	DOID:2316	brain ischemia		ISO	RGD:621281	D	RGD:9068941	20200609	RGD		protein:increased expression:thalamus (rat)	PMID:9288726|REF_RGD_ID:2317254
8822956	Naip	NLR family apoptosis inhibitory protein	gene	DOID:234	colon adenocarcinoma	exacerbates	ISO	RGD:1343112	D	RGD:9068941	20220818	RGD		mRNA:increased expression:colon (human)	PMID:31964418|REF_RGD_ID:153344516
8822956	Naip	NLR family apoptosis inhibitory protein	gene	DOID:3275	thymoma	ameliorates	ISO	RGD:1343112	D	RGD:9068941	20220818	RGD		mRNA:increased expression:thymus (human)	PMID:31964418|REF_RGD_ID:153344516
8822956	Naip	NLR family apoptosis inhibitory protein	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:1343112	D	RGD:9068941	20220818	RGD		mRNA:decreased expression:breast (human)	PMID:31964418|REF_RGD_ID:153344516
8822956	Naip	NLR family apoptosis inhibitory protein	gene	DOID:3717	gastric adenocarcinoma	disease_progression	ISO	RGD:1343112	D	RGD:9068941	20220818	RGD		mRNA:increased expression:stomach (human)	PMID:31964418|REF_RGD_ID:153344516
8822956	Naip	NLR family apoptosis inhibitory protein	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1343112	D	RGD:9068941	20220818	RGD		mRNA:increased expression:lung (human)	PMID:31964418|REF_RGD_ID:153344516
8822956	Naip	NLR family apoptosis inhibitory protein	gene	DOID:5520	head and neck squamous cell carcinoma	ameliorates	ISO	RGD:1343112	D	RGD:9068941	20220818	RGD		mRNA:increased expression:head or neck skin (human)	PMID:31964418|REF_RGD_ID:153344516
8822956	Naip	NLR family apoptosis inhibitory protein	gene	DOID:8923	skin melanoma	exacerbates	ISO	RGD:1343112	D	RGD:9068941	20220818	RGD		mRNA:increased expression:zone of skin (human)	PMID:31964418|REF_RGD_ID:153344516
8822956	Naip	NLR family apoptosis inhibitory protein	gene	DOID:9003654	Testicular Germ Cell Tumor	exacerbates	ISO	RGD:1343112	D	RGD:9068941	20220818	RGD		mRNA:increased expression:testis (human)	PMID:31964418|REF_RGD_ID:153344516
8822956	Naip	NLR family apoptosis inhibitory protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8822985	Itprid1	ITPR interacting domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8822985	Itprid1	ITPR interacting domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8822985	Itprid1	ITPR interacting domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8822985	Itprid1	ITPR interacting domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8822985	Itprid1	ITPR interacting domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8823022	LOC102025739	mitochondrial inner membrane protein COX18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8823022	LOC102025739	mitochondrial inner membrane protein COX18	gene	DOID:0070491	mitochondrial complex IV deficiency nuclear type 1		ISO	RGD:1604709	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1	PMID:25741868
8823022	LOC102025739	mitochondrial inner membrane protein COX18	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1604709	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
8823022	LOC102025739	mitochondrial inner membrane protein COX18	gene	DOID:10534	stomach cancer		ISO	RGD:1604709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8823022	LOC102025739	mitochondrial inner membrane protein COX18	gene	DOID:1324	lung cancer		ISO	RGD:1604709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8823022	LOC102025739	mitochondrial inner membrane protein COX18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823022	LOC102025739	mitochondrial inner membrane protein COX18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8823022	LOC102025739	mitochondrial inner membrane protein COX18	gene	DOID:9009422	Charcot-Marie-Tooth disease, axonal, type 2MM		ISO	RGD:1604709	D	RGD:7240710	20260311	OMIM			
8823022	LOC102025739	mitochondrial inner membrane protein COX18	gene	DOID:9009422	Charcot-Marie-Tooth disease, axonal, type 2MM		ISO	RGD:1604709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2MM	
8823022	LOC102025739	mitochondrial inner membrane protein COX18	gene	DOID:9009423	mitochondrial complex IV deficiency nuclear type 25		ISO	RGD:1604709	D	RGD:7240710	20260311	OMIM			
8823022	LOC102025739	mitochondrial inner membrane protein COX18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8823034	Rab8b	RAB8B, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8823034	Rab8b	RAB8B, member RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:1350755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8823034	Rab8b	RAB8B, member RAS oncogene family	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350755	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8823034	Rab8b	RAB8B, member RAS oncogene family	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:1553090	D	RGD:9068941	20230701	RGD			PMID:34400126|REF_RGD_ID:329902072
8823034	Rab8b	RAB8B, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8823047	Osbpl6	oxysterol binding protein like 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8823047	Osbpl6	oxysterol binding protein like 6	gene	DOID:1909	melanoma		ISO	RGD:1318914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8823047	Osbpl6	oxysterol binding protein like 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8823047	Osbpl6	oxysterol binding protein like 6	gene	DOID:4362	cervical cancer		ISO	RGD:1318914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8823047	Osbpl6	oxysterol binding protein like 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1318914	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8823047	Osbpl6	oxysterol binding protein like 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8823096	Fzd8	frizzled class receptor 8	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350514	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8823102	Neil2	nei like DNA glycosylase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8823102	Neil2	nei like DNA glycosylase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8823102	Neil2	nei like DNA glycosylase 2	gene	DOID:1324	lung cancer		ISO	RGD:1323805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8823102	Neil2	nei like DNA glycosylase 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1323805	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm	PMID:32748548
8823102	Neil2	nei like DNA glycosylase 2	gene	DOID:1909	melanoma		ISO	RGD:1323805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8823102	Neil2	nei like DNA glycosylase 2	gene	DOID:3070	high grade glioma		ISO	RGD:1323805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8823102	Neil2	nei like DNA glycosylase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8823102	Neil2	nei like DNA glycosylase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1323805	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8823102	Neil2	nei like DNA glycosylase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823102	Neil2	nei like DNA glycosylase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8823102	Neil2	nei like DNA glycosylase 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8823102	Neil2	nei like DNA glycosylase 2	gene	DOID:9002189	High Myopia		ISO	RGD:1323805	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
8823122	Tnfrsf9	TNF receptor superfamily member 9	gene	DOID:0060058	lymphoma		ISO	RGD:1312546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:16199547|PMID:28492532|PMID:30872117|PMID:31501153
8823122	Tnfrsf9	TNF receptor superfamily member 9	gene	DOID:0061078	immunodeficiency 109		ISO	RGD:1312546	D	RGD:7240710	20230505	OMIM			
8823122	Tnfrsf9	TNF receptor superfamily member 9	gene	DOID:0061078	immunodeficiency 109		ISO	RGD:1312546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 109 with lymphoproliferation | ClinVar Annotator: match by term: TNFRSF9-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30872117|PMID:31501153|PMID:9536098
8823122	Tnfrsf9	TNF receptor superfamily member 9	gene	DOID:10608	celiac disease		ISO	RGD:1312546	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
8823122	Tnfrsf9	TNF receptor superfamily member 9	gene	DOID:1115	sarcoma		ISO	RGD:1312546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8823122	Tnfrsf9	TNF receptor superfamily member 9	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1312546	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12031769
8823122	Tnfrsf9	TNF receptor superfamily member 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:16199547|PMID:28492532|PMID:30872117|PMID:31501153
8823122	Tnfrsf9	TNF receptor superfamily member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823122	Tnfrsf9	TNF receptor superfamily member 9	gene	DOID:630	genetic disease		ISO	RGD:1312546	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8823122	Tnfrsf9	TNF receptor superfamily member 9	gene	DOID:820	myocarditis		ISO	RGD:1312546	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12031769
8823122	Tnfrsf9	TNF receptor superfamily member 9	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1312546	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25279216
8823122	Tnfrsf9	TNF receptor superfamily member 9	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1312546	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25279216
8823122	Tnfrsf9	TNF receptor superfamily member 9	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1312546	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25279216
8823122	Tnfrsf9	TNF receptor superfamily member 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8823122	Tnfrsf9	TNF receptor superfamily member 9	gene	DOID:934	viral infectious disease		ISO	RGD:1312546	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12031769
8823134	Uts2	urotensin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:3930	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium	PMID:18280445|REF_RGD_ID:2306796
8823134	Uts2	urotensin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737599	D	RGD:9068941	20200609	RGD			PMID:12791592|REF_RGD_ID:1580809
8823134	Uts2	urotensin 2	gene	DOID:10591	pre-eclampsia		ISO	RGD:737599	D	RGD:9068941	20200609	RGD			PMID:15866083|REF_RGD_ID:1580806
8823134	Uts2	urotensin 2	gene	DOID:10763	hypertension		ISO	RGD:3930	D	RGD:9068941	20200609	RGD			PMID:14621188|REF_RGD_ID:1580812
8823134	Uts2	urotensin 2	gene	DOID:10763	hypertension		ISO	RGD:737599	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16160878
8823134	Uts2	urotensin 2	gene	DOID:10763	hypertension		ISO	RGD:737599	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:15201550|REF_RGD_ID:1580808
8823134	Uts2	urotensin 2	gene	DOID:114	heart disease	susceptibility	ISO	RGD:737599	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic	PMID:16508659|REF_RGD_ID:2306803
8823134	Uts2	urotensin 2	gene	DOID:11714	gestational diabetes	susceptibility	ISO	RGD:737599	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:17327028|REF_RGD_ID:2306802
8823134	Uts2	urotensin 2	gene	DOID:12932	endomyocardial fibrosis		ISO	RGD:3930	D	RGD:9068941	20200609	RGD			PMID:17184580|REF_RGD_ID:2306814
8823134	Uts2	urotensin 2	gene	DOID:2841	asthma		ISO	RGD:3930	D	RGD:9068941	20200609	RGD			PMID:17045018|REF_RGD_ID:2306832
8823134	Uts2	urotensin 2	gene	DOID:2841	asthma		ISO	RGD:737599	D	RGD:9068941	20200609	RGD			PMID:17045018|REF_RGD_ID:2306832
8823134	Uts2	urotensin 2	gene	DOID:3407	carotid artery disease		ISO	RGD:737599	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma	PMID:18338983|REF_RGD_ID:2306795
8823134	Uts2	urotensin 2	gene	DOID:480	movement disease		ISO	RGD:737599	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16160878
8823134	Uts2	urotensin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:737599	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8823134	Uts2	urotensin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823134	Uts2	urotensin 2	gene	DOID:5844	myocardial infarction		ISO	RGD:3930	D	RGD:9068941	20200609	RGD		associated with Heart Failure, Congestive;mRNA:increased expression:heart ventricle	PMID:15549273|REF_RGD_ID:2306846
8823134	Uts2	urotensin 2	gene	DOID:6000	congestive heart failure		ISO	RGD:737599	D	RGD:9068941	20200609	RGD			PMID:12791592|REF_RGD_ID:1580809
8823134	Uts2	urotensin 2	gene	DOID:6000	congestive heart failure	severity	ISO	RGD:737599	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16364499|REF_RGD_ID:2306804
8823134	Uts2	urotensin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8823134	Uts2	urotensin 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:3930	D	RGD:9068941	20200609	RGD			PMID:15042392|REF_RGD_ID:2306848
8823134	Uts2	urotensin 2	gene	DOID:8670	eating disorder		ISO	RGD:737599	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16160878
8823134	Uts2	urotensin 2	gene	DOID:8947	diabetic retinopathy		ISO	RGD:737599	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma	PMID:18338983|REF_RGD_ID:2306795
8823134	Uts2	urotensin 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:3930	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney	PMID:18796544|REF_RGD_ID:2306786
8823134	Uts2	urotensin 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:737599	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:15492948|REF_RGD_ID:2306805
8823134	Uts2	urotensin 2	gene	DOID:9002165	Diabetic Nephropathies	disease_progression	ISO	RGD:737599	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;protein:increased expression:urine	PMID:15476950|REF_RGD_ID:2306806
8823134	Uts2	urotensin 2	gene	DOID:9005289	Water Intoxication		ISO	RGD:737599	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16160878
8823134	Uts2	urotensin 2	gene	DOID:9007001	Bradycardia		ISO	RGD:737599	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16160878
8823134	Uts2	urotensin 2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:3930	D	RGD:9068941	20200609	RGD			PMID:17900760|REF_RGD_ID:2306836
8823134	Uts2	urotensin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8823134	Uts2	urotensin 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737599	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:18067077|REF_RGD_ID:2306799
8823134	Uts2	urotensin 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737599	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:15476950|REF_RGD_ID:2306806
8823134	Uts2	urotensin 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737600	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle	PMID:19323985|REF_RGD_ID:2306785
8823134	Uts2	urotensin 2	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:737599	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.S89N	PMID:15476949|REF_RGD_ID:2306807
8823142	Dcaf4	DDB1 and CUL4 associated factor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8823142	Dcaf4	DDB1 and CUL4 associated factor 4	gene	DOID:10534	stomach cancer		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8823142	Dcaf4	DDB1 and CUL4 associated factor 4	gene	DOID:1115	sarcoma		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8823142	Dcaf4	DDB1 and CUL4 associated factor 4	gene	DOID:4362	cervical cancer		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8823142	Dcaf4	DDB1 and CUL4 associated factor 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8823142	Dcaf4	DDB1 and CUL4 associated factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823142	Dcaf4	DDB1 and CUL4 associated factor 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8823142	Dcaf4	DDB1 and CUL4 associated factor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8823160	Dhx16	DEAH-box helicase 16	gene	DOID:10534	stomach cancer		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8823160	Dhx16	DEAH-box helicase 16	gene	DOID:1059	intellectual disability		ISO	RGD:1344132	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:37664979
8823160	Dhx16	DEAH-box helicase 16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8823160	Dhx16	DEAH-box helicase 16	gene	DOID:1115	sarcoma		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8823160	Dhx16	DEAH-box helicase 16	gene	DOID:1324	lung cancer		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8823160	Dhx16	DEAH-box helicase 16	gene	DOID:1826	epilepsy		ISO	RGD:1344132	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:37664979
8823160	Dhx16	DEAH-box helicase 16	gene	DOID:1909	melanoma		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8823160	Dhx16	DEAH-box helicase 16	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8823160	Dhx16	DEAH-box helicase 16	gene	DOID:2394	ovarian cancer		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8823160	Dhx16	DEAH-box helicase 16	gene	DOID:3275	thymoma		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8823160	Dhx16	DEAH-box helicase 16	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8823160	Dhx16	DEAH-box helicase 16	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8823160	Dhx16	DEAH-box helicase 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823160	Dhx16	DEAH-box helicase 16	gene	DOID:630	genetic disease		ISO	RGD:1344132	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:36413997|PMID:37664979
8823160	Dhx16	DEAH-box helicase 16	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8823160	Dhx16	DEAH-box helicase 16	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344132	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorders	PMID:37664979
8823160	Dhx16	DEAH-box helicase 16	gene	DOID:9004696	Neuromuscular Oculoauditory Syndrome		ISO	RGD:1344132	D	RGD:7240710	20200226	OMIM			
8823160	Dhx16	DEAH-box helicase 16	gene	DOID:9004696	Neuromuscular Oculoauditory Syndrome		ISO	RGD:1344132	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DHX16-related condition | ClinVar Annotator: match by term: Neuromuscular disease and ocular or auditory anomalies with or without seizures | ClinVar Annotator: match by term: neuromuscular disease and ocular or auditory anomalies with or without seizures	PMID:25741868|PMID:28492532|PMID:37664979
8823160	Dhx16	DEAH-box helicase 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8823160	Dhx16	DEAH-box helicase 16	gene	DOID:9256	colorectal cancer		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8823184	Cdc42ep1	CDC42 effector protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823184	Cdc42ep1	CDC42 effector protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8823184	Cdc42ep1	CDC42 effector protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8823225	Afmid	arylformamidase	gene	DOID:10534	stomach cancer		ISO	RGD:1606470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8823225	Afmid	arylformamidase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8823225	Afmid	arylformamidase	gene	DOID:1324	lung cancer		ISO	RGD:1606470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8823225	Afmid	arylformamidase	gene	DOID:4362	cervical cancer		ISO	RGD:1606470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8823225	Afmid	arylformamidase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8823225	Afmid	arylformamidase	gene	DOID:5041	esophageal cancer		ISO	RGD:1606470	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8823225	Afmid	arylformamidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823225	Afmid	arylformamidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8823225	Afmid	arylformamidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8823225	Afmid	arylformamidase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8823246	Aqp6	aquaporin 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823254	Steep1	STING1 ER exit protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8823254	Steep1	STING1 ER exit protein 1	gene	DOID:0080833	laryngomalacia		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
8823254	Steep1	STING1 ER exit protein 1	gene	DOID:0112054	non-syndromic X-linked intellectual disability 107		ISO	RGD:1603201	D	RGD:7240710	20190315	OMIM			
8823254	Steep1	STING1 ER exit protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8823254	Steep1	STING1 ER exit protein 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
8823254	Steep1	STING1 ER exit protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8823254	Steep1	STING1 ER exit protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8823254	Steep1	STING1 ER exit protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823254	Steep1	STING1 ER exit protein 1	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
8823254	Steep1	STING1 ER exit protein 1	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:25741868
8823254	Steep1	STING1 ER exit protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8823254	Steep1	STING1 ER exit protein 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
8823254	Steep1	STING1 ER exit protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:0050787	juvenile polyposis syndrome		ISO	RGD:734372	D	RGD:7240710	20180130	OMIM			
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:0050787	juvenile polyposis syndrome		ISO	RGD:734372	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome	PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15235019|PMID:15689448|PMID:16152648|PMID:16199547|PMID:16287957|PMID:16436638|PMID:16525031|PMID:16685657|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18160401|PMID:18178612|PMID:18456716|PMID:18510548|PMID:18823382|PMID:19438883|PMID:20843829|PMID:20845481|PMID:21153778|PMID:21194675|PMID:21203531|PMID:21872883|PMID:21943391|PMID:22067610|PMID:22138346|PMID:22703879|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25326637|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30613976|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:33032550|PMID:33097490|PMID:33110269|PMID:33821390|PMID:36632626|PMID:8397373|PMID:9286463|PMID:9467011|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:0050787	juvenile polyposis syndrome		ISO	RGD:734372	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome	PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16287957|PMID:16436638|PMID:16525031|PMID:16685657|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18160401|PMID:18178612|PMID:18456716|PMID:18510548|PMID:18823382|PMID:19438883|PMID:20843829|PMID:20845481|PMID:21153778|PMID:21194675|PMID:21203531|PMID:21872883|PMID:22067610|PMID:22138346|PMID:22703879|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25326637|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30613976|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:33032550|PMID:33097490|PMID:33110269|PMID:33821390|PMID:36632626|PMID:37323311|PMID:8397373|PMID:9286463|PMID:9467011|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:0050787	juvenile polyposis syndrome		ISO	RGD:734372	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome | ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract	PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16287957|PMID:16436638|PMID:16525031|PMID:16685657|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18160401|PMID:18178612|PMID:18456716|PMID:18510548|PMID:18823382|PMID:19438883|PMID:20843829|PMID:20845481|PMID:21153778|PMID:21194675|PMID:21203531|PMID:21872883|PMID:22067610|PMID:22138346|PMID:22703879|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30613976|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:33032550|PMID:33097490|PMID:33110269|PMID:33821390|PMID:34326862|PMID:36632626|PMID:37323311|PMID:37354305|PMID:37900118|PMID:8397373|PMID:9286463|PMID:9467011|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:0050787	juvenile polyposis syndrome		ISO	RGD:734372	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome	PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16287957|PMID:16436638|PMID:16525031|PMID:16685657|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18160401|PMID:18178612|PMID:18456716|PMID:18510548|PMID:18823382|PMID:19438883|PMID:20843829|PMID:20845481|PMID:21153778|PMID:21194675|PMID:21203531|PMID:21872883|PMID:22067610|PMID:22138346|PMID:22703879|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29596542|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30613976|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:32522261|PMID:33032550|PMID:33097490|PMID:33110269|PMID:33821390|PMID:34326862|PMID:36243179|PMID:36632626|PMID:37323311|PMID:37354305|PMID:37900118|PMID:8397373|PMID:9286463|PMID:9467011|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:0050787	juvenile polyposis syndrome		ISO	RGD:734372	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome	PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16287957|PMID:16436638|PMID:16525031|PMID:16685657|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18160401|PMID:18178612|PMID:18456716|PMID:18510548|PMID:186643|PMID:18823382|PMID:19438883|PMID:20843829|PMID:20845481|PMID:21153778|PMID:21194675|PMID:21203531|PMID:21872883|PMID:22067610|PMID:22138346|PMID:22703879|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29596542|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30613976|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:32522261|PMID:33032550|PMID:33097490|PMID:33110269|PMID:33821390|PMID:34326862|PMID:36049049|PMID:36243179|PMID:36632626|PMID:37323311|PMID:37354305|PMID:37900118|PMID:581497|PMID:8397373|PMID:9286463|PMID:945914|PMID:9467011|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:0050787	juvenile polyposis syndrome		ISO	RGD:734372	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome | ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract	PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12519945|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16287957|PMID:16436638|PMID:16525031|PMID:16685657|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18160401|PMID:18178612|PMID:18456716|PMID:18510548|PMID:186643|PMID:18823382|PMID:19438883|PMID:20843829|PMID:20845481|PMID:21153778|PMID:21194675|PMID:21203531|PMID:21872883|PMID:22067610|PMID:22138346|PMID:22703879|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27479538|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29422332|PMID:29522511|PMID:29596542|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30613976|PMID:30670635|PMID:30680046|PMID:30809968|PMID:30814609|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:32522261|PMID:32778766|PMID:33032550|PMID:33097490|PMID:33110269|PMID:3313277|PMID:33821390|PMID:34326862|PMID:34897210|PMID:35430768|PMID:35534704|PMID:35928693|PMID:35957908|PMID:36049049|PMID:36243179|PMID:36271359|PMID:36632626|PMID:37323311|PMID:37354305|PMID:37400896|PMID:37463056|PMID:37900118|PMID:37965459|PMID:581497|PMID:8397373|PMID:9286463|PMID:945914|PMID:9467011|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:0050787	juvenile polyposis syndrome		ISO	RGD:734372	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome	PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12519945|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16287957|PMID:16436638|PMID:16525031|PMID:16685657|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18160401|PMID:18178612|PMID:18456716|PMID:18510548|PMID:186643|PMID:18823382|PMID:19438883|PMID:20843829|PMID:20845481|PMID:21153778|PMID:21194675|PMID:21203531|PMID:21872883|PMID:22067610|PMID:22138346|PMID:22703879|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27479538|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29422332|PMID:29522511|PMID:29596542|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30613976|PMID:30670635|PMID:30680046|PMID:30809968|PMID:30814609|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:32522261|PMID:32778766|PMID:33032550|PMID:33097490|PMID:33110269|PMID:3313277|PMID:33821390|PMID:34326862|PMID:34897210|PMID:35430768|PMID:35534704|PMID:35928693|PMID:35957908|PMID:36049049|PMID:36153796|PMID:36243179|PMID:36271359|PMID:36632626|PMID:37323311|PMID:37354305|PMID:37400896|PMID:37463056|PMID:37900118|PMID:37965459|PMID:39020067|PMID:581497|PMID:8397373|PMID:9286463|PMID:945914|PMID:9467011|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:0050787	juvenile polyposis syndrome		ISO	RGD:734372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: JUVENILE POLYPOSIS SYNDROME | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome	PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16287957|PMID:16436638|PMID:16525031|PMID:16685657|PMID:17576681|PMID:17873119|PMID:18160401|PMID:18178612|PMID:18510548|PMID:18823382|PMID:19438883|PMID:20843829|PMID:21872883|PMID:22067610|PMID:22138346|PMID:22703879|PMID:22993021|PMID:23331837|PMID:23399955|PMID:23433720|PMID:23700467|PMID:24728327|PMID:25117502|PMID:25186627|PMID:25741868|PMID:25860647|PMID:25980754|PMID:26270727|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26681312|PMID:26845104|PMID:26976419|PMID:27479538|PMID:27696107|PMID:27930734|PMID:28135145|PMID:28492532|PMID:28717660|PMID:29212164|PMID:29641532|PMID:29844865|PMID:29909963|PMID:29950348|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30613976|PMID:30680046|PMID:30884445|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31949278|PMID:32459922|PMID:33032550|PMID:33087929|PMID:33097490|PMID:33110269|PMID:33821390|PMID:34326862|PMID:34897210|PMID:35101336|PMID:35430768|PMID:35534704|PMID:35957908|PMID:36049049|PMID:36243179|PMID:36271359|PMID:36632626|PMID:37400896|PMID:37463056|PMID:37900118|PMID:39020067|PMID:8397373|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:0050787	juvenile polyposis syndrome		ISO	RGD:734372	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: JUVENILE POLYPOSIS SYNDROME | ClinVar Annotator: match by term: Juvenile polyposis syndrome	PMID:10881198|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16287957|PMID:16436638|PMID:16525031|PMID:16685657|PMID:17576681|PMID:17873119|PMID:18160401|PMID:18178612|PMID:18510548|PMID:18823382|PMID:19438883|PMID:20843829|PMID:21872883|PMID:22067610|PMID:22138346|PMID:22703879|PMID:22993021|PMID:23331837|PMID:23399955|PMID:23433720|PMID:23700467|PMID:24033266|PMID:24448499|PMID:24728327|PMID:25117502|PMID:25186627|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26681312|PMID:26845104|PMID:27153395|PMID:27479538|PMID:27621404|PMID:27696107|PMID:27930734|PMID:28135145|PMID:28492532|PMID:28717660|PMID:29212164|PMID:29641532|PMID:29844865|PMID:29909963|PMID:29950348|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30613976|PMID:30680046|PMID:30884445|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31949278|PMID:32459922|PMID:33032550|PMID:33087929|PMID:33097490|PMID:33110269|PMID:33821390|PMID:34326862|PMID:34897210|PMID:35101336|PMID:35430768|PMID:35534704|PMID:35957908|PMID:36049049|PMID:36243179|PMID:36271359|PMID:36632626|PMID:37400896|PMID:37463056|PMID:37900118|PMID:39020067|PMID:8397373|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:0060389	chromosome 10q23 deletion syndrome		ISO	RGD:734373	D	RGD:9068941	20240425	MouseDO		OMIM:612242	
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:0080600	COVID-19		ISO	RGD:734372	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:0080645	B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1		ISO	RGD:734372	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1	PMID:25741868|PMID:28492532|PMID:30093976|PMID:35534704|PMID:35957908
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:0111686	hereditary mixed polyposis syndrome 2		ISO	RGD:734372	D	RGD:7240710	20180130	OMIM			
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:0111686	hereditary mixed polyposis syndrome 2		ISO	RGD:734372	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BMPR1A-related disorder | ClinVar Annotator: match by term: POLYPOSIS SYNDROME, HEREDITARY MIXED, 2 | ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 2	PMID:10881198|PMID:11536076|PMID:12417513|PMID:16525031|PMID:17576681|PMID:18178612|PMID:18823382|PMID:23433720|PMID:24728327|PMID:25117502|PMID:25186627|PMID:25741868|PMID:25860647|PMID:25980754|PMID:26467025|PMID:2658044|PMID:26580448|PMID:26845104|PMID:28135145|PMID:28492532|PMID:28717660|PMID:29641532|PMID:30093976|PMID:30306255|PMID:30680046|PMID:30884445|PMID:32459922|PMID:33032550|PMID:33110269|PMID:33821390|PMID:34326862|PMID:35430768|PMID:35534704|PMID:35957908|PMID:36049049|PMID:36243179|PMID:36632626|PMID:37400896|PMID:37463056|PMID:39020067|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:10534	stomach cancer		ISO	RGD:734372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:1287	cardiovascular system disease		ISO	RGD:734372	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:14289	Ebstein anomaly		ISO	RGD:734373	D	RGD:9068941	20220825	MouseDO		OMIM:224700	
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:734372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension	PMID:28492532|PMID:31727138
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:734372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:11536076|PMID:12136244|PMID:12417513|PMID:17873119|PMID:23399955|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34897210|PMID:35101336
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:1520	colon carcinoma		ISO	RGD:734372	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:12417513|PMID:14526373|PMID:15235019|PMID:18823382|PMID:23399955|PMID:23433720|PMID:24055113|PMID:24728327|PMID:25058500|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26976419|PMID:27146957|PMID:28135145|PMID:28492532|PMID:28660566|PMID:31727138
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:1520	colon carcinoma		ISO	RGD:734372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colonic carcinoma	PMID:25741868|PMID:28492532
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:1612	breast cancer		ISO	RGD:734372	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:18823382|PMID:22703879|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24448499|PMID:24728327|PMID:25117502|PMID:25186627|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26436109|PMID:26467025|PMID:26845104|PMID:27153395|PMID:27621404|PMID:28135145|PMID:28492532|PMID:36049049
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:1826	epilepsy		ISO	RGD:734372	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:219	colon cancer		ISO	RGD:734372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: colon cancer	PMID:26845104
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:3070	high grade glioma		ISO	RGD:734372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:26467025|PMID:28492532
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:3459	breast carcinoma		ISO	RGD:734372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:11536076|PMID:12417513|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29909963
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:3462	hamartoma		ISO	RGD:734372	D	RGD:9068941	20200609	RGD		Cowden-like syndrome, OMIM:158350, DNA:point mutation:exon:A338D	PMID:11536076|REF_RGD_ID:734650
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:734373	D	RGD:9068941	20220825	MouseDO		OMIM:194200	
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:5295	intestinal disease		ISO	RGD:734372	D	RGD:9068941	20200609	RGD		hereditary mixed polyposis syndrome-2, HMPS2, OMIM:610069, DNA:deletion:exon	PMID:16525031|REF_RGD_ID:1600590
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:5295	intestinal disease		ISO	RGD:734372	D	RGD:9068941	20200609	RGD		juvenile polyposis syndrome, OMIM:174900 , DNA:deletion	PMID:16685657|REF_RGD_ID:1600591
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:5295	intestinal disease		ISO	RGD:734372	D	RGD:9068941	20200609	RGD		juvenile polyposis, OMIM:174900, DNA:point mutation:exon:Q239X	PMID:11381269|REF_RGD_ID:1600589
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:6225	Cronkhite-Canada syndrome		ISO	RGD:734372	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastrointestinal polyposis	PMID:22703879|PMID:23399955|PMID:24033266|PMID:24448499|PMID:24728327|PMID:25186627|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26436109|PMID:27153395|PMID:27621404|PMID:28492532
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:6432	pulmonary hypertension		ISO	RGD:734372	D	RGD:9068941	20200609	RGD			PMID:19324947|REF_RGD_ID:5129472
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:8398	osteoarthritis		ISO	RGD:734373	D	RGD:9068941	20220825	MouseDO		OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401	
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9001733	Tinnitus		ISO	RGD:734372	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:734372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease | ClinVar Annotator: match by term: pulmonary arterial hypertension	PMID:25186627|PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:31159747|PMID:31727138|PMID:32459922
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9002739	Female Urogenital Diseases		ISO	RGD:734372	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16002989
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:734372	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734372	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15064755|PMID:15235019|PMID:16199547|PMID:16436638|PMID:16705692|PMID:16902903|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18178612|PMID:18823382|PMID:20845481|PMID:21153778|PMID:21203531|PMID:22138346|PMID:22703879|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:26580448|PMID:26659599|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28492532|PMID:28660566|PMID:29212164|PMID:29522511|PMID:29909963|PMID:30029678|PMID:30093976|PMID:30374176|PMID:30426508|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31727138|PMID:31780696|PMID:32068069|PMID:33032550|PMID:8397373|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734372	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15064755|PMID:15235019|PMID:15689448|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16525031|PMID:16672363|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18178612|PMID:18823382|PMID:18937504|PMID:20845481|PMID:21153778|PMID:21203531|PMID:21943391|PMID:22138346|PMID:22703879|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25326637|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:33032550|PMID:33110269|PMID:33821390|PMID:36632626|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734372	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12519945|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15064755|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16525031|PMID:16672363|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18178612|PMID:186643|PMID:18823382|PMID:18937504|PMID:20845481|PMID:21153778|PMID:21203531|PMID:22138346|PMID:22703879|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29596542|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:32522261|PMID:33032550|PMID:33110269|PMID:3313277|PMID:33821390|PMID:34326862|PMID:36049049|PMID:36243179|PMID:36632626|PMID:37323311|PMID:37354305|PMID:37900118|PMID:581497|PMID:945914|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734372	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12519945|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15064755|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16525031|PMID:16672363|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18178612|PMID:186643|PMID:18823382|PMID:18937504|PMID:20845481|PMID:21153778|PMID:21203531|PMID:22138346|PMID:22703879|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29596542|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:32522261|PMID:33032550|PMID:33110269|PMID:3313277|PMID:33821390|PMID:34326862|PMID:36049049|PMID:36243179|PMID:36632626|PMID:37323311|PMID:37354305|PMID:37900118|PMID:581497|PMID:8397373|PMID:945914|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734372	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12519945|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15064755|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16525031|PMID:16672363|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18178612|PMID:186643|PMID:18823382|PMID:18937504|PMID:20845481|PMID:21153778|PMID:21203531|PMID:22138346|PMID:22703879|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29596542|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:32522261|PMID:33032550|PMID:33097490|PMID:33110269|PMID:3313277|PMID:33821390|PMID:34326862|PMID:36049049|PMID:36243179|PMID:36632626|PMID:37323311|PMID:37354305|PMID:37900118|PMID:581497|PMID:8397373|PMID:945914|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734372	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12519945|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15064755|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16525031|PMID:16672363|PMID:16705692|PMID:16783378|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18178612|PMID:186643|PMID:18823382|PMID:18937504|PMID:20301718|PMID:20845481|PMID:21153778|PMID:21203531|PMID:22138346|PMID:22703879|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27479538|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29596542|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:32522261|PMID:33032550|PMID:33097490|PMID:33110269|PMID:3313277|PMID:33821390|PMID:34326862|PMID:36049049|PMID:36243179|PMID:36632626|PMID:37323311|PMID:37354305|PMID:37463056|PMID:37900118|PMID:581497|PMID:8397373|PMID:945914|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734372	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12519945|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15064755|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16525031|PMID:16672363|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18178612|PMID:186643|PMID:18823382|PMID:18937504|PMID:20845481|PMID:21153778|PMID:21203531|PMID:22138346|PMID:22703879|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27479538|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29422332|PMID:29522511|PMID:29596542|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30670635|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:32522261|PMID:33032550|PMID:33097490|PMID:33110269|PMID:3313277|PMID:33821390|PMID:34326862|PMID:34897210|PMID:35928693|PMID:36049049|PMID:36243179|PMID:36632626|PMID:37323311|PMID:37354305|PMID:37463056|PMID:37900118|PMID:37965459|PMID:581497|PMID:8397373|PMID:945914|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734372	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12519945|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15064755|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16525031|PMID:16672363|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18178612|PMID:186643|PMID:18823382|PMID:18937504|PMID:20845481|PMID:21153778|PMID:21203531|PMID:22138346|PMID:22703879|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27479538|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29422332|PMID:29522511|PMID:29596542|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30670635|PMID:30680046|PMID:30809968|PMID:30814609|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:32522261|PMID:32778766|PMID:33032550|PMID:33097490|PMID:33110269|PMID:3313277|PMID:33821390|PMID:34326862|PMID:34897210|PMID:35430768|PMID:35534704|PMID:35928693|PMID:35957908|PMID:36049049|PMID:36243179|PMID:36632626|PMID:37323311|PMID:37354305|PMID:37400896|PMID:37463056|PMID:37900118|PMID:37965459|PMID:581497|PMID:8397373|PMID:945914|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734372	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12519945|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15064755|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16525031|PMID:16672363|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18178612|PMID:186643|PMID:18823382|PMID:18937504|PMID:20845481|PMID:21153778|PMID:21203531|PMID:22138346|PMID:22703879|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27479538|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29422332|PMID:29522511|PMID:29596542|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30670635|PMID:30680046|PMID:30809968|PMID:30814609|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:32522261|PMID:32778766|PMID:33032550|PMID:33097490|PMID:33110269|PMID:3313277|PMID:33821390|PMID:34326862|PMID:34897210|PMID:35430768|PMID:35534704|PMID:35928693|PMID:35957908|PMID:36049049|PMID:36153796|PMID:36243179|PMID:36632626|PMID:37323311|PMID:37354305|PMID:37400896|PMID:37463056|PMID:37900118|PMID:37965459|PMID:581497|PMID:8397373|PMID:945914|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734372	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12519945|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15064755|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16525031|PMID:16672363|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18178612|PMID:186643|PMID:18823382|PMID:18937504|PMID:20845481|PMID:21153778|PMID:21203531|PMID:22138346|PMID:22703879|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27479538|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29422332|PMID:29522511|PMID:29596542|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30670635|PMID:30680046|PMID:30809968|PMID:30814609|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:32522261|PMID:32778766|PMID:33032550|PMID:33097490|PMID:33110269|PMID:3313277|PMID:33821390|PMID:34326862|PMID:34897210|PMID:35430768|PMID:35534704|PMID:35928693|PMID:35957908|PMID:36049049|PMID:36153796|PMID:36243179|PMID:36632626|PMID:37323311|PMID:37354305|PMID:37400896|PMID:37463056|PMID:37900118|PMID:37965459|PMID:39020067|PMID:581497|PMID:8397373|PMID:945914|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734372	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12519945|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15064755|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16525031|PMID:16672363|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18178612|PMID:18823382|PMID:18937504|PMID:20845481|PMID:21153778|PMID:21203531|PMID:22138346|PMID:22703879|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27479538|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29422332|PMID:29522511|PMID:29596542|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30670635|PMID:30680046|PMID:30809968|PMID:30814609|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:32522261|PMID:32778766|PMID:33032550|PMID:33097490|PMID:33110269|PMID:3313277|PMID:33821390|PMID:34326862|PMID:34897210|PMID:35430768|PMID:35534704|PMID:35928693|PMID:35957908|PMID:36049049|PMID:36153796|PMID:36243179|PMID:36632626|PMID:37323311|PMID:37354305|PMID:37400896|PMID:37463056|PMID:37894428|PMID:37900118|PMID:37965459|PMID:39020067|PMID:8397373|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10881198|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:15064755|PMID:15235019|PMID:16199547|PMID:16436638|PMID:16672363|PMID:17295905|PMID:17576681|PMID:17873119|PMID:18178612|PMID:18823382|PMID:18937504|PMID:21203531|PMID:22703879|PMID:23399955|PMID:23433720|PMID:23700467|PMID:24728327|PMID:25117502|PMID:25186627|PMID:25741868|PMID:25860647|PMID:25980754|PMID:26270727|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27479538|PMID:27930734|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28717660|PMID:29212164|PMID:29641532|PMID:29844865|PMID:29909963|PMID:29950348|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31769494|PMID:31949278|PMID:32459922|PMID:32778766|PMID:33032550|PMID:33087929|PMID:33097490|PMID:33110269|PMID:33821390|PMID:34326862|PMID:34897210|PMID:35101336|PMID:35430768|PMID:35534704|PMID:35957908|PMID:36049049|PMID:36243179|PMID:36632626|PMID:37323311|PMID:37400896|PMID:37463056|PMID:39020067|PMID:8397373|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734372	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10881198|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:15064755|PMID:15235019|PMID:16199547|PMID:16436638|PMID:16672363|PMID:17295905|PMID:17576681|PMID:17873119|PMID:18178612|PMID:18823382|PMID:18937504|PMID:21203531|PMID:23399955|PMID:23433720|PMID:23700467|PMID:24728327|PMID:25117502|PMID:25186627|PMID:25741868|PMID:25860647|PMID:25980754|PMID:26270727|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27479538|PMID:27930734|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28717660|PMID:29212164|PMID:29641532|PMID:29844865|PMID:29909963|PMID:29950348|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31769494|PMID:31949278|PMID:32459922|PMID:32778766|PMID:33032550|PMID:33087929|PMID:33097490|PMID:33110269|PMID:33821390|PMID:34326862|PMID:34897210|PMID:35101336|PMID:35430768|PMID:35534704|PMID:35957908|PMID:36049049|PMID:36243179|PMID:36632626|PMID:37323311|PMID:37400896|PMID:37463056|PMID:39020067|PMID:8397373|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734372	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10881198|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:15064755|PMID:15235019|PMID:16199547|PMID:16436638|PMID:16672363|PMID:17295905|PMID:17576681|PMID:17873119|PMID:18178612|PMID:18823382|PMID:18937504|PMID:21203531|PMID:23399955|PMID:23433720|PMID:23700467|PMID:24728327|PMID:25117502|PMID:25186627|PMID:25741868|PMID:25860647|PMID:25980754|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26845104|PMID:26900293|PMID:27479538|PMID:27930734|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28717660|PMID:29212164|PMID:29641532|PMID:29844865|PMID:29909963|PMID:29950348|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31769494|PMID:31949278|PMID:32459922|PMID:32778766|PMID:33032550|PMID:33087929|PMID:33097490|PMID:33110269|PMID:33821390|PMID:34326862|PMID:34897210|PMID:35101336|PMID:35430768|PMID:35534704|PMID:35957908|PMID:36049049|PMID:36243179|PMID:36632626|PMID:37323311|PMID:37400896|PMID:37463056|PMID:39020067|PMID:8397373|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734372	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10881198|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:15064755|PMID:15235019|PMID:16199547|PMID:16436638|PMID:16672363|PMID:17295905|PMID:17576681|PMID:17873119|PMID:18178612|PMID:18823382|PMID:18937504|PMID:21203531|PMID:22703879|PMID:23399955|PMID:23433720|PMID:23700467|PMID:24033266|PMID:24448499|PMID:24728327|PMID:25117502|PMID:25186627|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26845104|PMID:26900293|PMID:27153395|PMID:27479538|PMID:27621404|PMID:27930734|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28717660|PMID:29212164|PMID:29641532|PMID:29844865|PMID:29909963|PMID:29950348|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31769494|PMID:31949278|PMID:32459922|PMID:32778766|PMID:33032550|PMID:33087929|PMID:33097490|PMID:33110269|PMID:33821390|PMID:34326862|PMID:34897210|PMID:35101336|PMID:35430768|PMID:35534704|PMID:35957908|PMID:36049049|PMID:36243179|PMID:36632626|PMID:37323311|PMID:37400896|PMID:37463056|PMID:39020067|PMID:8397373|PMID:9536098
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9007736	Vertigo		ISO	RGD:734372	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:734372	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15804571
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:734372	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15804571
8823269	Bmpr1a	bone morphogenetic protein receptor type 1A	gene	DOID:9009054	Colorectal Cancer 10		ISO	RGD:734372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer type X	PMID:25741868|PMID:28492532
8823284	Mycbpap	MYCBP associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8823284	Mycbpap	MYCBP associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8823284	Mycbpap	MYCBP associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1345665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8823284	Mycbpap	MYCBP associated protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8823284	Mycbpap	MYCBP associated protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1345665	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8823284	Mycbpap	MYCBP associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823284	Mycbpap	MYCBP associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8823284	Mycbpap	MYCBP associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8823325	Prdx4	peroxiredoxin 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8823325	Prdx4	peroxiredoxin 4	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:731497	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16081686
8823325	Prdx4	peroxiredoxin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8823325	Prdx4	peroxiredoxin 4	gene	DOID:10534	stomach cancer		ISO	RGD:731497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8823325	Prdx4	peroxiredoxin 4	gene	DOID:10603	glucose intolerance		ISO	RGD:731497	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20446767
8823325	Prdx4	peroxiredoxin 4	gene	DOID:1115	sarcoma		ISO	RGD:731497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8823325	Prdx4	peroxiredoxin 4	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:731497	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
8823325	Prdx4	peroxiredoxin 4	gene	DOID:3070	high grade glioma		ISO	RGD:731497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8823325	Prdx4	peroxiredoxin 4	gene	DOID:4195	hyperglycemia		ISO	RGD:731497	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20446767
8823325	Prdx4	peroxiredoxin 4	gene	DOID:4362	cervical cancer		ISO	RGD:731497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8823325	Prdx4	peroxiredoxin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:731497	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8823325	Prdx4	peroxiredoxin 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8823325	Prdx4	peroxiredoxin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823325	Prdx4	peroxiredoxin 4	gene	DOID:9000918	Disease Progression		ISO	RGD:731497	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16081686
8823325	Prdx4	peroxiredoxin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8823325	Prdx4	peroxiredoxin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8823344	Sla	Src like adaptor	gene	DOID:12306	vitiligo		ISO	RGD:1351693	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561518
8823344	Sla	Src like adaptor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1351693	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8823355	Map4k3	mitogen-activated protein kinase kinase kinase kinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8823355	Map4k3	mitogen-activated protein kinase kinase kinase kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8823355	Map4k3	mitogen-activated protein kinase kinase kinase kinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:732595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8823355	Map4k3	mitogen-activated protein kinase kinase kinase kinase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8823355	Map4k3	mitogen-activated protein kinase kinase kinase kinase 3	gene	DOID:1115	sarcoma		ISO	RGD:732595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8823355	Map4k3	mitogen-activated protein kinase kinase kinase kinase 3	gene	DOID:1324	lung cancer		ISO	RGD:732595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8823355	Map4k3	mitogen-activated protein kinase kinase kinase kinase 3	gene	DOID:1909	melanoma		ISO	RGD:732595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8823355	Map4k3	mitogen-activated protein kinase kinase kinase kinase 3	gene	DOID:3070	high grade glioma		ISO	RGD:732595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8823355	Map4k3	mitogen-activated protein kinase kinase kinase kinase 3	gene	DOID:4362	cervical cancer		ISO	RGD:732595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8823355	Map4k3	mitogen-activated protein kinase kinase kinase kinase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8823355	Map4k3	mitogen-activated protein kinase kinase kinase kinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:732595	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8823355	Map4k3	mitogen-activated protein kinase kinase kinase kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823355	Map4k3	mitogen-activated protein kinase kinase kinase kinase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8823355	Map4k3	mitogen-activated protein kinase kinase kinase kinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8823355	Map4k3	mitogen-activated protein kinase kinase kinase kinase 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732595	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8823355	Map4k3	mitogen-activated protein kinase kinase kinase kinase 3	gene	DOID:9005834	Ependymomas		ISO	RGD:732595	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
8823355	Map4k3	mitogen-activated protein kinase kinase kinase kinase 3	gene	DOID:9006281	Temporomandibular Joint Disorders		ISO	RGD:621280	D	RGD:9068941	20200609	RGD		protein:decreased expression:cartilage tissue	PMID:23386193|REF_RGD_ID:10041017
8823355	Map4k3	mitogen-activated protein kinase kinase kinase kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8823355	Map4k3	mitogen-activated protein kinase kinase kinase kinase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8823355	Map4k3	mitogen-activated protein kinase kinase kinase kinase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8823427	Olfml3	olfactomedin like 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8823427	Olfml3	olfactomedin like 3	gene	DOID:10283	prostate cancer		ISO	RGD:1322385	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8823427	Olfml3	olfactomedin like 3	gene	DOID:10283	prostate cancer		ISO	RGD:1322385	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8823427	Olfml3	olfactomedin like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8823427	Olfml3	olfactomedin like 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8823427	Olfml3	olfactomedin like 3	gene	DOID:4362	cervical cancer		ISO	RGD:1322385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8823427	Olfml3	olfactomedin like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823427	Olfml3	olfactomedin like 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8823427	Olfml3	olfactomedin like 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322385	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8823427	Olfml3	olfactomedin like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8823441	Srcin1	SRC kinase signaling inhibitor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8823441	Srcin1	SRC kinase signaling inhibitor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606779	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8823441	Srcin1	SRC kinase signaling inhibitor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8823441	Srcin1	SRC kinase signaling inhibitor 1	gene	DOID:1115	sarcoma		ISO	RGD:1606779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8823441	Srcin1	SRC kinase signaling inhibitor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8823441	Srcin1	SRC kinase signaling inhibitor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8823441	Srcin1	SRC kinase signaling inhibitor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606779	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8823441	Srcin1	SRC kinase signaling inhibitor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823441	Srcin1	SRC kinase signaling inhibitor 1	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1606779	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27506785
8823441	Srcin1	SRC kinase signaling inhibitor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8823441	Srcin1	SRC kinase signaling inhibitor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8823441	Srcin1	SRC kinase signaling inhibitor 1	gene	DOID:9975	cocaine dependence	ameliorates	ISO	RGD:708439	D	RGD:9068941	20250327	RGD			PMID:27506785|REF_RGD_ID:11561325
8823441	Srcin1	SRC kinase signaling inhibitor 1	gene	DOID:9975	cocaine dependence	ameliorates	ISO	RGD:734075	D	RGD:9068941	20250327	RGD			PMID:27506785|REF_RGD_ID:11561325
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:737571	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532|PMID:30477625|PMID:31910233|PMID:33045405|PMID:38469099
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:0050758	metabolic acidosis		ISO	RGD:737571	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:25741868|PMID:28492532|PMID:30477625|PMID:31910233|PMID:33045405|PMID:38469099
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:0081168	HMG-CoA synthase 2 deficiency		ISO	RGD:737571	D	RGD:7240710	20180130	OMIM			
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:0081168	HMG-CoA synthase 2 deficiency		ISO	RGD:737571	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar Annotator: match by term: HMGCS2-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	PMID:11228257|PMID:11479731|PMID:12647205|PMID:16199547|PMID:20346956|PMID:23751782|PMID:25511235|PMID:25741868|PMID:28492532|PMID:30283815|PMID:30477625|PMID:31910233|PMID:32259399|PMID:32952630|PMID:33045405|PMID:35308163|PMID:38469099
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:1115	sarcoma		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:2804	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver, mitochondrion (rat)	PMID:12399220|REF_RGD_ID:2326121
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:1826	epilepsy		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:16199547|PMID:20346956|PMID:23751782|PMID:25511235|PMID:28492532
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:3650	lactic acidosis		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:6000	congestive heart failure		ISO	RGD:737571	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:630	genetic disease		ISO	RGD:737571	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:737571	D	RGD:9068941	20200609	RGD			PMID:28867541|REF_RGD_ID:14975299
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the mitochondrion	PMID:25741868
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9000972	Fever		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	PMID:25741868
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:737571	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9002801	Recurrence		ISO	RGD:737571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27816970
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:737571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925|PMID:27816970
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9004108	Fused Kidney		ISO	RGD:737571	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	PMID:25741868
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9004484	Sepsis		ISO	RGD:737571	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sepsis	PMID:25741868|PMID:28492532|PMID:30477625|PMID:31910233|PMID:33045405|PMID:38469099
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:737571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27816970
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9004866	Ataxia		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:33045405
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:2804	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:10892723|REF_RGD_ID:2326126
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:737571	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2804	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:7902069|REF_RGD_ID:2326135
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:737571	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypertriglyceridemia	PMID:25741868|PMID:28492532|PMID:30477625|PMID:31910233|PMID:33045405|PMID:38469099
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:737571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:737571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27816970
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9008972	Hyperammonemia		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:25741868
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:936	brain disease		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
8823467	Hmgcs2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9993	hypoglycemia		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
8823480	Hps5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8823480	Hps5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:0060539	Hermansky-Pudlak syndrome 1		ISO	RGD:1323623	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	PMID:25741868|PMID:28296950|PMID:28492532
8823480	Hps5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:0060543	Hermansky-Pudlak syndrome 5		ISO	RGD:1323623	D	RGD:7240710	20180130	OMIM			
8823480	Hps5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:0060543	Hermansky-Pudlak syndrome 5		ISO	RGD:1323623	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: HPS5-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5	PMID:12548288|PMID:15296495|PMID:21833017|PMID:22995991|PMID:23607980|PMID:24033266|PMID:24698632|PMID:25741868|PMID:26785811|PMID:28296950|PMID:28492532|PMID:28640947|PMID:31064749
8823480	Hps5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:0060543	Hermansky-Pudlak syndrome 5		ISO	RGD:1323623	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HERMANSKY-PUDLAK SYNDROME 5 | ClinVar Annotator: match by term: HPS5-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5	PMID:12548288|PMID:15296495|PMID:16199547|PMID:21833017|PMID:22995991|PMID:23607980|PMID:24033266|PMID:25741868|PMID:26785811|PMID:28296950|PMID:28492532|PMID:28640947|PMID:31064749|PMID:35126127
8823480	Hps5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8823480	Hps5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8823480	Hps5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:2223	platelet storage pool deficiency		ISO	RGD:1323624	D	RGD:9068941	20220825	MouseDO		OMIM:185050	
8823480	Hps5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:3275	thymoma		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8823480	Hps5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hermansky-Pudlak syndrome	PMID:12548288|PMID:15296495|PMID:16199547|PMID:21833017|PMID:25741868|PMID:26785811|PMID:28296950|PMID:28492532|PMID:28640947|PMID:31064749
8823480	Hps5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8823480	Hps5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8823480	Hps5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8823480	Hps5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8823480	Hps5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1323623	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8823480	Hps5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323623	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28296950|PMID:28492532
8823480	Hps5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8823480	Hps5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8823480	Hps5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8823480	Hps5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8823480	Hps5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:0050561	Lennox-Gastaut syndrome		ISO	RGD:1316368	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lennox-Gastaut syndrome	PMID:28492532
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:0050827	rheumatic heart disease		ISO	RGD:1307272	D	RGD:9068941	20230202	RGD		mRNA, protein:increases expression:mitral valve, heart (rat)	PMID:33179113|REF_RGD_ID:155882558
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:0060058	lymphoma		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:0060485	Mowat-Wilson syndrome		ISO	RGD:1316368	D	RGD:7240710	20180130	OMIM			
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:0060485	Mowat-Wilson syndrome		ISO	RGD:1316368	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MOWAT-WILSON SYNDROME | ClinVar Annotator: match by term: Mowat-Wilson syndrome | ClinVar Annotator: match by term: ZEB2-related condition	PMID:11448942|PMID:11592033|PMID:11891681|PMID:12784289|PMID:15121779|PMID:15384097|PMID:16053902|PMID:16199547|PMID:16532472|PMID:16688751|PMID:17203459|PMID:17576681|PMID:17958891|PMID:18414213|PMID:19006215|PMID:19011757|PMID:19215041|PMID:19842203|PMID:2030158|PMID:20301585|PMID:20428734|PMID:23243526|PMID:23466526|PMID:23523603|PMID:23715323|PMID:24401652|PMID:24715670|PMID:25123255|PMID:25326637|PMID:25497574|PMID:25741868|PMID:25899569|PMID:26193487|PMID:26467025|PMID:26633542|PMID:26661037|PMID:26809768|PMID:27831545|PMID:27848944|PMID:28096981|PMID:28492532|PMID:28501473|PMID:29089047|PMID:29159939|PMID:29263819|PMID:29300384|PMID:29483666|PMID:30083364|PMID:31130284|PMID:31178897|PMID:33176815|PMID:33199988|PMID:34012377|PMID:34298581|PMID:35646055|PMID:36406119|PMID:36474027|PMID:39484203|PMID:39941075|PMID:9536098|PMID:9719364
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1316368	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Smith-Magenis Syndrome-like	PMID:27799067
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868|PMID:31680123
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1316368	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:1059	intellectual disability		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:16053902|PMID:17958891|PMID:18414213|PMID:19006215|PMID:19215041|PMID:24401652|PMID:24715670|PMID:25741868|PMID:25899569|PMID:26809768|PMID:28492532|PMID:29300384
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:10907	microcephaly		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:19006215|PMID:25741868|PMID:29300384
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:11372	megacolon		ISO	RGD:1316368	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:25741868
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:12849	autistic disorder		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:1324	lung cancer		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:1682	congenital heart disease		ISO	RGD:1316368	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17478475
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:1826	epilepsy		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:1909	melanoma		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:2786	cerebellar disease		ISO	RGD:1316368	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29326173
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:2841	asthma		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1316368	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316368	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:540	strabismus		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:5602	T-cell adult acute lymphocytic leukemia		ISO	RGD:1316369	D	RGD:9068941	20240425	MouseDO			
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:576	proteinuria		ISO	RGD:1307272	D	RGD:9068941	20230128	RGD		mRNA:increased expression:glomerular podocytes (rat)	PMID:31784544|REF_RGD_ID:155882534
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:5844	myocardial infarction		ISO	RGD:1307272	D	RGD:9068941	20230128	RGD		protein:increased expression:heart (rat)	PMID:24155330|REF_RGD_ID:155882536
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:630	genetic disease		ISO	RGD:1316368	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16053902|PMID:17958891|PMID:18414213|PMID:19215041|PMID:20428734|PMID:23322667|PMID:24401652|PMID:24715670|PMID:25741868|PMID:25899569|PMID:26809768|PMID:28492532|PMID:33619735
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9000918	Disease Progression		ISO	RGD:1316368	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19839049
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9001031	Retrognathia		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1316368	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9002320	Neurobehavioral Manifestations	treatment	ISO	RGD:1307272	D	RGD:9068941	20230128	RGD			PMID:34334113|REF_RGD_ID:155882538
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9002554	Tachycardia		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:16053902|PMID:17958891|PMID:18414213|PMID:19215041|PMID:24401652|PMID:24715670|PMID:25741868|PMID:25899569|PMID:26809768|PMID:28492532
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9003292	Intracranial Subdural Hematoma		ISO	RGD:1307272	D	RGD:9068941	20230128	RGD		protein:increased expression:brain (rat)	PMID:34334113|REF_RGD_ID:155882538
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9003292	Intracranial Subdural Hematoma	treatment	ISO	RGD:1307272	D	RGD:9068941	20230128	RGD			PMID:34334113|REF_RGD_ID:155882538
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:1307272	D	RGD:9068941	20230128	RGD		mRNA:increased expression:glomerular podocytes (rat)	PMID:31784544|REF_RGD_ID:155882534
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:1307272	D	RGD:9068941	20230202	RGD			PMID:34852714|REF_RGD_ID:155882542
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9004327	Colpocephaly		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colpocephaly	PMID:25741868
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316368	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1316368	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21954225
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9004797	Fetal Nutrition Disorders		ISO	RGD:1307272	D	RGD:9068941	20230202	RGD		associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat)	PMID:23977013|REF_RGD_ID:155882570
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9004866	Ataxia		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9005616	Micrognathism		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28492532
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9005883	Pleural Effusion		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pleural effusion	PMID:16053902|PMID:17958891|PMID:18414213|PMID:19215041|PMID:24401652|PMID:24715670|PMID:25741868|PMID:25899569|PMID:26809768|PMID:28492532
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9006095	Ascites		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ascites	PMID:16053902|PMID:17958891|PMID:18414213|PMID:19215041|PMID:24401652|PMID:24715670|PMID:25741868|PMID:25899569|PMID:26809768|PMID:28492532
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:16053902|PMID:23322667|PMID:25741868|PMID:28492532|PMID:29300384
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1316368	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9007402	Gliosis		ISO	RGD:1307272	D	RGD:9068941	20230202	RGD			PMID:34852714|REF_RGD_ID:155882542
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1316368	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21954225
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9007840	Chylothorax		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chylothorax	PMID:16053902|PMID:17958891|PMID:18414213|PMID:19215041|PMID:24401652|PMID:24715670|PMID:25741868|PMID:25899569|PMID:26809768|PMID:28492532
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19006215|PMID:25741868|PMID:28492532|PMID:29300384
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9008297	Motor Disorders		ISO	RGD:1316368	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29326173
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316368	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19839049
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9009086	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1		ISO	RGD:1316368	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	PMID:25741868|PMID:28492532
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
8823517	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9970	obesity		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
8823529	Lcn9	lipocalin 9	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:1345733	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1	PMID:28492532|PMID:29907982
8823551	Rgcc	regulator of cell cycle	gene	DOID:2513	basal cell carcinoma		ISO	RGD:733140	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8823551	Rgcc	regulator of cell cycle	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823551	Rgcc	regulator of cell cycle	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8823551	Rgcc	regulator of cell cycle	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:733140	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8823560	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:3459	breast carcinoma		ISO	RGD:736900	D	RGD:9068941	20220421	RGD		mRNA, protein:decreased exoression:breast, tumor (human)	PMID:18686028|REF_RGD_ID:151893465
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:11162	respiratory failure		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:11830	myopia		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:12849	autistic disorder		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:1324	lung cancer		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:1596	depressive disorder		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:736900	D	RGD:9068941	20200609	RGD		esophageal squamous cell carcinoma, OMIM:133239	PMID:10097140|REF_RGD_ID:1600104
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:1909	melanoma		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:2030	anxiety disorder		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:2841	asthma		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:736900	D	RGD:7240710	20240207	OMIM			
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:736900	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC | ClinVar Annotator: match by term: LZTS1-related condition	PMID:25741868|PMID:26504261|PMID:28492532
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:4362	cervical cancer		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:480	movement disease		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736900	D	RGD:9068941	20240208	RGD		esophageal squamous cell carcinoma, OMIM:133239	PMID:10097140|REF_RGD_ID:1600104
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:736900	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:9001733	Tinnitus		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736900	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12377406
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:28492532
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:9007736	Vertigo		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:9008421	Epistaxis		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:28492532
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8823560	Lzts1	leucine zipper tumor suppressor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8823580	Osbpl9	oxysterol binding protein like 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8823580	Osbpl9	oxysterol binding protein like 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8823580	Osbpl9	oxysterol binding protein like 9	gene	DOID:0060470	salt and pepper syndrome		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile epilepsy syndrome	PMID:25741868
8823580	Osbpl9	oxysterol binding protein like 9	gene	DOID:10534	stomach cancer		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8823580	Osbpl9	oxysterol binding protein like 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8823580	Osbpl9	oxysterol binding protein like 9	gene	DOID:1324	lung cancer		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8823580	Osbpl9	oxysterol binding protein like 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8823580	Osbpl9	oxysterol binding protein like 9	gene	DOID:4362	cervical cancer		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8823580	Osbpl9	oxysterol binding protein like 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1323003	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8823580	Osbpl9	oxysterol binding protein like 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8823580	Osbpl9	oxysterol binding protein like 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8823580	Osbpl9	oxysterol binding protein like 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8823580	Osbpl9	oxysterol binding protein like 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:1305747	D	RGD:9068941	20220812	RGD			PMID:18296740|REF_RGD_ID:7207884
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:0080158	herpes simplex virus keratitis	susceptibility	ISO	RGD:1313965	D	RGD:9068941	20200609	RGD			PMID:17266445|REF_RGD_ID:8661706
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:0080162	lupus nephritis		ISO	RGD:1313965	D	RGD:9068941	20200609	RGD			PMID:20980973|REF_RGD_ID:6893449
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:0080745	polymyositis	susceptibility	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: (rs7582694) (human)	PMID:24632671|REF_RGD_ID:8661720
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:0081373	disabling pansclerotic morphea		ISO	RGD:1313964	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: DISABLING PANSCLEROTIC MORPHEA OF CHILDHOOD	PMID:25741868|PMID:28492532|PMID:37256972
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:0081373	disabling pansclerotic morphea	susceptibility	ISO	RGD:1313964	D	RGD:7240710	20260729	OMIM			
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:10223	dermatomyositis		ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs7574865 (human)	PMID:22402141|REF_RGD_ID:8661693
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:10534	stomach cancer		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:1115	sarcoma		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1313964	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21399635
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:12236	primary biliary cholangitis	no_association	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human)	PMID:24648611|REF_RGD_ID:25671415
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:12236	primary biliary cholangitis	susceptibility	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNP: intron: (rs7574865) (human)	PMID:28395724|REF_RGD_ID:25671416
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:12236	primary biliary cholangitis	susceptibility	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotypes:multiple	PMID:24648611|REF_RGD_ID:25671415
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:12236	primary biliary cholangitis	susceptibility	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human)	PMID:26084578|REF_RGD_ID:25671421
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:12297	Vogt-Koyanagi-Harada disease		ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs7574865 (human)	PMID:20438790|REF_RGD_ID:8661713
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:12361	Graves' disease		ISO	RGD:1313965	D	RGD:9068941	20200609	RGD			PMID:16195404|REF_RGD_ID:7207875
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1313964	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24097066|PMID:24097067
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:12894	Sjogren's syndrome	no_association	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: (rs7574865) (human)	PMID:20360187|REF_RGD_ID:8661709
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:12894	Sjogren's syndrome	susceptibility	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: (rs7574865) (human)	PMID:18273036|REF_RGD_ID:8661708
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:12894	Sjogren's syndrome	susceptibility	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: (rs7582694) (human)	PMID:20535138|REF_RGD_ID:8661690
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:13241	Behcet's disease		ISO	RGD:1313964	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23291587
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:13241	Behcet's disease		ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs7574865 (human)	PMID:20438790|REF_RGD_ID:8661713
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:13241	Behcet's disease		ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs897200, rs7572482, rs7574070 (human)	PMID:23001997|REF_RGD_ID:8661718
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:1577	limited scleroderma	no_association	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNPs:introns: (rs10168266, rs3821236)  (human)	PMID:23755762|REF_RGD_ID:8661701
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:1577	limited scleroderma	susceptibility	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: (rs7574865) (human)	PMID:19286670|PMID:23755762|REF_RGD_ID:8661701|REF_RGD_ID:8661714
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:1580	diffuse scleroderma	no_association	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: (rs3821236) (human)	PMID:23755762|REF_RGD_ID:8661701
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:1580	diffuse scleroderma	no_association	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: (rs7574865) (human)	PMID:19286670|REF_RGD_ID:8661714
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:1580	diffuse scleroderma	susceptibility	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNP:introns: (rs7574865, rs10168266) (human)	PMID:23755762|REF_RGD_ID:8661701
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:1884	viral hepatitis	susceptibility	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:liver, inflammatory cell (human)	PMID:24731448|REF_RGD_ID:25671417
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:1909	melanoma		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:1996	rectum adenocarcinoma		ISO	RGD:1313964	D	RGD:9068941	20220812	RGD		DNA:SNP:intron: (rs3024861) (human)	PMID:22121102|REF_RGD_ID:153323313
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:2030	anxiety disorder		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:2043	hepatitis B		ISO	RGD:1313964	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27444301
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:2048	autoimmune hepatitis	susceptibility	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNPs: intron 3, intron: (rs7574865, rs7582694) (human)	PMID:23990947|PMID:28977835|REF_RGD_ID:25671418|REF_RGD_ID:25671419
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:2377	multiple sclerosis		ISO	RGD:1313964	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24076602
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:2841	asthma		ISO	RGD:1313964	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28807506
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:2841	asthma	treatment	ISO	RGD:1305747	D	RGD:9068941	20220812	RGD			PMID:18211752|REF_RGD_ID:2317290
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:2986	IgA glomerulonephritis	disease_progression	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs7561832 (human)	PMID:20045654|REF_RGD_ID:7207872
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:2986	IgA glomerulonephritis	no_association	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:c.274-28828C>G (rs10181656) (human)	PMID:20479942|REF_RGD_ID:7207878
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1305747	D	RGD:9068941	20220812	RGD		protein:increased expression:lung	PMID:24321062|REF_RGD_ID:8661725
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:3312	bipolar disorder		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:25741868|PMID:28492532
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1313964	D	RGD:9068941	20220812	RGD		mRNA:increased expression:stomach (human)	PMID:33042401|REF_RGD_ID:153298934
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:418	systemic scleroderma		ISO	RGD:1313964	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20383147
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:418	systemic scleroderma	susceptibility	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: (rs11889341) (human)	PMID:19950257|REF_RGD_ID:8661711
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:418	systemic scleroderma	susceptibility	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: (rs7574865) (human)	PMID:19644887|REF_RGD_ID:8661700
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313964	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1313964	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313964	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23242368
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		Hepatitis B, Chronic; DNA:SNP: intron 3: (rs7574865) (human)	PMID:26745093|REF_RGD_ID:11553302
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1313964	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20453842|PMID:23143596
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:8541	Sezary's disease		ISO	RGD:1313964	D	RGD:9068941	20200609	RGD			PMID:16403914|REF_RGD_ID:8661723
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:869	cholesteatoma		ISO	RGD:1313964	D	RGD:9068941	20200609	RGD			PMID:24321752|REF_RGD_ID:8661722
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:8704	genital herpes	severity	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype: :multiple	PMID:22718836|REF_RGD_ID:8661697
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:8704	genital herpes	treatment	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs7572482 (human)	PMID:22718836|REF_RGD_ID:8661697
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:8893	psoriasis	susceptibility	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:IVS3 (rs7574865) (human)	PMID:19500629|REF_RGD_ID:8661715
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9002174	Disease Susceptibility		ISO	RGD:1313964	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27444301
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9002514	Neointima	treatment	ISO	RGD:1305747	D	RGD:9068941	20220812	RGD		associated with Carotid Artery Injuries	PMID:16118253|REF_RGD_ID:5509614
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1305747	D	RGD:9068941	20220812	RGD			PMID:11240014|REF_RGD_ID:7207888
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9003870	Herpes Simplex Encephalitis	susceptibility	ISO	RGD:1313965	D	RGD:9068941	20200609	RGD			PMID:17266445|REF_RGD_ID:8661706
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs7574865 (human)	PMID:21237270|REF_RGD_ID:7207871
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9004484	Sepsis		ISO	RGD:1313965	D	RGD:9068941	20200609	RGD			PMID:11257135|REF_RGD_ID:7207876
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9004874	Dermal Fibrosis		ISO	RGD:1313965	D	RGD:9068941	20200609	RGD			PMID:21360510|REF_RGD_ID:8661691
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9005005	Oral Ulcer		ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		associated with Lupus Erythematosus, Systemic;DNA:SNP:intron:c.274-23582A>C (rs7574865) (human)	PMID:21719445|REF_RGD_ID:5147916
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1313965	D	RGD:9068941	20200609	RGD			PMID:10553062|REF_RGD_ID:7207889
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9007356	Eczema		ISO	RGD:1313964	D	RGD:9068941	20200609	RGD			PMID:22192168|REF_RGD_ID:6893665
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1313965	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver, macrophage (mouse)	PMID:23876342|REF_RGD_ID:25671422
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	severity	ISO	RGD:1313965	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:liver, inflammatory cell (mouse)	PMID:24731448|REF_RGD_ID:25671417
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9008	psoriatic arthritis		ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs10181656 (human)	PMID:22328738|REF_RGD_ID:8661724
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9008163	Chronic Hepatitis B	susceptibility	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotypes:multiple	PMID:25829184|REF_RGD_ID:25671420
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1313964	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: STAT4-related condition | ClinVar Annotator: match by term: SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11 | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 11	PMID:25741868|PMID:28492532
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9074	systemic lupus erythematosus	onset	ISO	RGD:1313964	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:c.274-23582A>C (rs7574865) (human)	PMID:23049788|REF_RGD_ID:7207877
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:1313964	D	RGD:7240710	20260729	OMIM			
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9074	systemic lupus erythematosus	treatment	ISO	RGD:1313965	D	RGD:9068941	20200609	RGD			PMID:16920939|REF_RGD_ID:7207874
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:1313965	D	RGD:9068941	20200609	RGD			PMID:10458767|REF_RGD_ID:8661703
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:1313965	D	RGD:9068941	20200609	RGD			PMID:24242758|REF_RGD_ID:8661696
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9452	steatotic liver disease		ISO	RGD:1313965	D	RGD:9068941	20200609	RGD			PMID:16799967|REF_RGD_ID:25671424
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1313965	D	RGD:9068941	20220825	MouseDO		OMIM:222100	
8823621	Stat4	signal transducer and activator of transcription 4	gene	DOID:9970	obesity	treatment	ISO	RGD:1305747	D	RGD:9068941	20220812	RGD			PMID:20978234|REF_RGD_ID:5509594
8823654	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:0110942	autosomal recessive osteopetrosis 1		ISO	RGD:1354234	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1	PMID:35342016|PMID:36195244
8823654	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:0110945	autosomal recessive osteopetrosis 6		ISO	RGD:1354234	D	RGD:7240710	20180130	OMIM			
8823654	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:0110945	autosomal recessive osteopetrosis 6		ISO	RGD:1354234	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 6	PMID:25741868
8823654	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8823654	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:1115	sarcoma		ISO	RGD:1354234	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8823654	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:1324	lung cancer		ISO	RGD:1354234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8823654	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:1909	melanoma		ISO	RGD:1354234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8823654	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823654	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8823654	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:9009253	Autosomal Dominant Osteopetrosis 3		ISO	RGD:1354234	D	RGD:7240710	20190315	OMIM			
8823654	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:9009253	Autosomal Dominant Osteopetrosis 3		ISO	RGD:1354234	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: Osteopetrosis, autosomal dominant 3	PMID:25741868
8823685	Dnajb12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:1115	sarcoma		ISO	RGD:1348292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8823685	Dnajb12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:1909	melanoma		ISO	RGD:1348292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8823685	Dnajb12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8823685	Dnajb12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:3275	thymoma		ISO	RGD:1348292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8823685	Dnajb12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:5041	esophageal cancer		ISO	RGD:1348292	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8823685	Dnajb12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823685	Dnajb12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8823685	Dnajb12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8823706	Foxa2	forkhead box A2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8823706	Foxa2	forkhead box A2	gene	DOID:0061021	combined pituitary hormone deficiency 3		ISO	RGD:1605726	D	RGD:8554872	20250304	ClinVar		ClinVar Annotator: match by term: Non-acquired combined pituitary hormone deficiency	PMID:25741868|PMID:29329447|PMID:30414530|PMID:33729509|PMID:33999151
8823706	Foxa2	forkhead box A2	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1605726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868
8823706	Foxa2	forkhead box A2	gene	DOID:0111380	solitary median maxillary central incisor		ISO	RGD:1605726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome	
8823706	Foxa2	forkhead box A2	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:1605726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868
8823706	Foxa2	forkhead box A2	gene	DOID:2018	hyperinsulinism		ISO	RGD:10719	D	RGD:9068941	20200609	RGD			PMID:11445544|REF_RGD_ID:2313243
8823706	Foxa2	forkhead box A2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1605726	D	RGD:9068941	20220407	RGD		mRNA:decreased expression:lung	PMID:26658322|REF_RGD_ID:11554787
8823706	Foxa2	forkhead box A2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605726	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8823706	Foxa2	forkhead box A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823706	Foxa2	forkhead box A2	gene	DOID:630	genetic disease		ISO	RGD:1605726	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8823706	Foxa2	forkhead box A2	gene	DOID:850	lung disease		ISO	RGD:1605726	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16863852
8823706	Foxa2	forkhead box A2	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1605726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25741868
8823706	Foxa2	forkhead box A2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1605726	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8823706	Foxa2	forkhead box A2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2808	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney cortex	PMID:19433262|REF_RGD_ID:2312358
8823706	Foxa2	forkhead box A2	gene	DOID:9007661	Dwarfism		ISO	RGD:1605726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8823706	Foxa2	forkhead box A2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1605726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insulin resistance	PMID:25741868
8823706	Foxa2	forkhead box A2	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:1605726	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16863852
8823706	Foxa2	forkhead box A2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1605726	D	RGD:9068941	20200609	RGD		DNA:SNP, repeat: :rs1055080 (human)	PMID:18797817|REF_RGD_ID:2313242
8823706	Foxa2	forkhead box A2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1605726	D	RGD:9068941	20200609	RGD		DNA:missense mutation:p.A86T (human)	PMID:11043867|REF_RGD_ID:2313245
8823706	Foxa2	forkhead box A2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2808	D	RGD:9068941	20250820	RGD		associated with ZDF-Leprfa/Crl strain; mRNA:altered expression:pancreatic islet	PMID:16772326|REF_RGD_ID:1599258
8823706	Foxa2	forkhead box A2	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:1605726	D	RGD:9068941	20200609	RGD		DNA:transversion, transitions:promoter, exon:multiple	PMID:10868949|REF_RGD_ID:2313246
8823706	Foxa2	forkhead box A2	gene	DOID:9406	hypopituitarism		ISO	RGD:1605726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypopituitarism	PMID:25741868
8823706	Foxa2	forkhead box A2	gene	DOID:9452	steatotic liver disease		ISO	RGD:1605726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:25741868
8823706	Foxa2	forkhead box A2	gene	DOID:9970	obesity		ISO	RGD:10719	D	RGD:9068941	20200609	RGD			PMID:12865419|REF_RGD_ID:1627574
8823716	Clic6	chloride intracellular channel 6	gene	DOID:2661	myoepithelioma		ISO	RGD:735803	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8823716	Clic6	chloride intracellular channel 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823716	Clic6	chloride intracellular channel 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8823716	Clic6	chloride intracellular channel 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8823728	Zbtb26	zinc finger and BTB domain containing 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823749	Bnc1	basonuclin zinc finger protein 1	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1319162	D	RGD:7240710	20200101	OMIM			
8823749	Bnc1	basonuclin zinc finger protein 1	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1319162	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure 16	PMID:25741868
8823749	Bnc1	basonuclin zinc finger protein 1	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1319162	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:25741868
8823749	Bnc1	basonuclin zinc finger protein 1	gene	DOID:14450	46 XX gonadal dysgenesis		ISO	RGD:1319162	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: 46 XX gonadal dysgenesis	PMID:25741868
8823749	Bnc1	basonuclin zinc finger protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8823749	Bnc1	basonuclin zinc finger protein 1	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1319162	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
8823749	Bnc1	basonuclin zinc finger protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:734022	D	RGD:9068941	20210122	RGD		mRNA, protein:alternative form, increased expression:heart	PMID:23462508|REF_RGD_ID:40924663
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:734022	D	RGD:9068941	20240629	RGD		DNA:SNPs:exon:	PMID:17761687|REF_RGD_ID:405866369
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:734022	D	RGD:9068941	20240125	RGD		DNA:SNPs:introns:multiple	PMID:17085484|REF_RGD_ID:401959319
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:0050933	ovarian serous carcinoma	disease_progression	ISO	RGD:734022	D	RGD:9068941	20210115	RGD			PMID:25455994|REF_RGD_ID:40907066
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:734022	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25137309|PMID:25741868|PMID:30423390|PMID:35492721
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:0060318	acute promyelocytic leukemia	disease_progression	ISO	RGD:734022	D	RGD:9068941	20210115	RGD			PMID:24296270|REF_RGD_ID:40907062
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:10534	stomach cancer		ISO	RGD:734022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:67378	D	RGD:9068941	20210122	RGD			PMID:31028587|REF_RGD_ID:40925918
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:1115	sarcoma		ISO	RGD:734022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:11206	opioid abuse		ISO	RGD:67378	D	RGD:9068941	20240125	RGD			PMID:24399412|REF_RGD_ID:401959321
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:11260	rabies		ISO	RGD:736988	D	RGD:9068941	20210115	RGD			PMID:9696812|REF_RGD_ID:40907065
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:1324	lung cancer		ISO	RGD:734022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:1459	hypothyroidism		ISO	RGD:67378	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus	PMID:20412599|REF_RGD_ID:2326028
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:67378	D	RGD:9068941	20231221	RGD		mRNA:decreased expression:hippocampus (rat)	PMID:30277635|REF_RGD_ID:401938665
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:1574	alcohol use disorder	sexual_dimorphism	ISO	RGD:67378	D	RGD:9068941	20240201	RGD		associated with chronic stress in female rats	PMID:27894930|REF_RGD_ID:401959751
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:67378	D	RGD:9068941	20240127	RGD			PMID:16207289|REF_RGD_ID:401959613
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:67378	D	RGD:9068941	20210122	RGD			PMID:29217494|REF_RGD_ID:13703051
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:734022	D	RGD:9068941	20200609	RGD			PMID:11249065|REF_RGD_ID:2326074
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:1793	pancreatic cancer	severity	ISO	RGD:734022	D	RGD:9068941	20200609	RGD			PMID:10374842|REF_RGD_ID:2326075
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:2560	morphine dependence		ISO	RGD:67378	D	RGD:9068941	20240125	RGD		protein:decreased expression, altered form:hippocampus (rat)	PMID:15673448|REF_RGD_ID:401900167
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:3073	brain glioblastoma multiforme	disease_progression	ISO	RGD:734022	D	RGD:9068941	20210122	RGD			PMID:20219118|REF_RGD_ID:40924672
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:3312	bipolar disorder		ISO	RGD:734022	D	RGD:9068941	20200609	RGD		DNA:snps:introns:IVS6+32T>C, IVS7+11G>C, IVS12+21C>A (human)	PMID:15050861|REF_RGD_ID:1358750
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:67378	D	RGD:9068941	20210122	RGD			PMID:29497380|REF_RGD_ID:40925919
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:734022	D	RGD:9068941	20210115	RGD			PMID:32962079|REF_RGD_ID:40924633
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:3892	insulinoma		ISO	RGD:734022	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:8972754|REF_RGD_ID:2326080
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734022	D	RGD:9068941	20200609	RGD		associated with hepatitis	PMID:12031086|REF_RGD_ID:2326079
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:5041	esophageal cancer		ISO	RGD:734022	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:5419	schizophrenia		ISO	RGD:734022	D	RGD:9068941	20210122	RGD			PMID:30664618|REF_RGD_ID:40925920
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:734022	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:5844	myocardial infarction		ISO	RGD:67378	D	RGD:9068941	20210122	RGD		protein:alternative form, increased expression:myocardium	PMID:23462508|REF_RGD_ID:40924663
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:5844	myocardial infarction		ISO	RGD:736988	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:heart	PMID:19853610|REF_RGD_ID:2325979
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:6000	congestive heart failure		ISO	RGD:67378	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:heart	PMID:19853610|REF_RGD_ID:2325979
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:657	adenoma		ISO	RGD:734022	D	RGD:9068941	20200609	RGD		protein:increased expression:gallbladder	PMID:15100237|REF_RGD_ID:2326070
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:9000011	Gallbladder Neoplasms	disease_progression	ISO	RGD:734022	D	RGD:9068941	20200609	RGD		protein:increased expression:epithelial cell	PMID:15100237|REF_RGD_ID:2326070
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:736988	D	RGD:9068941	20200609	RGD			PMID:10086383|REF_RGD_ID:2326067
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:9001131	stress-related disorder	sexual_dimorphism	ISO	RGD:67378	D	RGD:9068941	20240201	RGD			PMID:27894930|REF_RGD_ID:401959751
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:67378	D	RGD:9068941	20210122	RGD		protein:decreased expression:hippocampus	PMID:17064783|REF_RGD_ID:40924670
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:9002936	Bile Duct Neoplasms		ISO	RGD:734022	D	RGD:9068941	20200609	RGD			PMID:9851639|REF_RGD_ID:2326076
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:9002936	Bile Duct Neoplasms	disease_progression	ISO	RGD:734022	D	RGD:9068941	20200609	RGD			PMID:8501910|REF_RGD_ID:2326077
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:734022	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:9004332	Osteoarthritis, Experimental		ISO	RGD:67378	D	RGD:9068941	20210122	RGD		protein:decreased expression:skeletal joint	PMID:31742919|REF_RGD_ID:40924673
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:734022	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19700239
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:9008023	Memory Disorders	treatment	ISO	RGD:67378	D	RGD:9068941	20240127	RGD		associated with alcohol use disorder	PMID:16207289|REF_RGD_ID:401959613
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:736988	D	RGD:9068941	20230223	RGD			PMID:18757519|REF_RGD_ID:2326023
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:9744	type 1 diabetes mellitus	onset	ISO	RGD:734022	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreatic islet	PMID:15714132|REF_RGD_ID:2326066
8823757	Ncam1	neural cell adhesion molecule 1	gene	DOID:9974	drug dependence		ISO	RGD:734022	D	RGD:9068941	20240125	RGD		associated with alcohol dependence;DNA:haplotype:exon:	PMID:18828801|REF_RGD_ID:401959320
8823831	Bcl6b	BCL6B transcription repressor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8823831	Bcl6b	BCL6B transcription repressor	gene	DOID:1115	sarcoma		ISO	RGD:1349060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8823831	Bcl6b	BCL6B transcription repressor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8823844	Dgki	diacylglycerol kinase iota	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8823844	Dgki	diacylglycerol kinase iota	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8823844	Dgki	diacylglycerol kinase iota	gene	DOID:10534	stomach cancer		ISO	RGD:1343674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8823844	Dgki	diacylglycerol kinase iota	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8823844	Dgki	diacylglycerol kinase iota	gene	DOID:1115	sarcoma		ISO	RGD:1343674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8823844	Dgki	diacylglycerol kinase iota	gene	DOID:1909	melanoma		ISO	RGD:1343674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8823844	Dgki	diacylglycerol kinase iota	gene	DOID:4362	cervical cancer		ISO	RGD:1343674	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8823844	Dgki	diacylglycerol kinase iota	gene	DOID:5041	esophageal cancer		ISO	RGD:1343674	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8823844	Dgki	diacylglycerol kinase iota	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8823844	Dgki	diacylglycerol kinase iota	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823844	Dgki	diacylglycerol kinase iota	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8823844	Dgki	diacylglycerol kinase iota	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1343674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8823844	Dgki	diacylglycerol kinase iota	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8823883	Exoc3l4	exocyst complex component 3 like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8823883	Exoc3l4	exocyst complex component 3 like 4	gene	DOID:1324	lung cancer		ISO	RGD:1349636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8823883	Exoc3l4	exocyst complex component 3 like 4	gene	DOID:1909	melanoma		ISO	RGD:1349636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8823883	Exoc3l4	exocyst complex component 3 like 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8823883	Exoc3l4	exocyst complex component 3 like 4	gene	DOID:4362	cervical cancer		ISO	RGD:1349636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8823883	Exoc3l4	exocyst complex component 3 like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823913	Wnt5a	Wnt family member 5A	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1353257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28726637
8823913	Wnt5a	Wnt family member 5A	gene	DOID:0060254	Robinow syndrome		ISO	RGD:1353257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acral dysostosis with facial and genital abnormalities | ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome | ClinVar Annotator: match by term: Robinow syndrome | ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant	PMID:18414213|PMID:25741868|PMID:28492532|PMID:35047859
8823913	Wnt5a	Wnt family member 5A	gene	DOID:0060766	autosomal dominant Robinow syndrome 1		ISO	RGD:1353257	D	RGD:7240710	20180131	OMIM			
8823913	Wnt5a	Wnt family member 5A	gene	DOID:0060766	autosomal dominant Robinow syndrome 1		ISO	RGD:1353257	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 | ClinVar Annotator: match by term: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1 | ClinVar Annotator: match by term: WNT5A-related condition	PMID:16602827|PMID:19918918|PMID:24716670|PMID:25741868|PMID:28492532|PMID:29276006|PMID:30760477|PMID:34750320
8823913	Wnt5a	Wnt family member 5A	gene	DOID:10534	stomach cancer		ISO	RGD:1353257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8823913	Wnt5a	Wnt family member 5A	gene	DOID:1324	lung cancer		ISO	RGD:1353257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8823913	Wnt5a	Wnt family member 5A	gene	DOID:219	colon cancer	treatment	ISO	RGD:69250	D	RGD:9068941	20211210	RGD			PMID:28032729|REF_RGD_ID:150530464
8823913	Wnt5a	Wnt family member 5A	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1353257	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:tumor:vs normal endometrium	PMID:9099960|REF_RGD_ID:2291875
8823913	Wnt5a	Wnt family member 5A	gene	DOID:4362	cervical cancer		ISO	RGD:1353257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8823913	Wnt5a	Wnt family member 5A	gene	DOID:630	genetic disease		ISO	RGD:1353257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8823913	Wnt5a	Wnt family member 5A	gene	DOID:9002739	Female Urogenital Diseases		ISO	RGD:1353257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16002989
8823913	Wnt5a	Wnt family member 5A	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1353257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25061499
8823913	Wnt5a	Wnt family member 5A	gene	DOID:9003816	Macrocephaly		ISO	RGD:1353257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532
8823913	Wnt5a	Wnt family member 5A	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1353257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23349696
8823913	Wnt5a	Wnt family member 5A	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1353257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19061910
8823913	Wnt5a	Wnt family member 5A	gene	DOID:9007661	Dwarfism		ISO	RGD:1353257	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8823913	Wnt5a	Wnt family member 5A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8823934	Htra3	HtrA serine peptidase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1354015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8823934	Htra3	HtrA serine peptidase 3	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	severity	ISO	RGD:1354015	D	RGD:9068941	20200626	RGD			PMID:28302172|REF_RGD_ID:32716376
8823934	Htra3	HtrA serine peptidase 3	gene	DOID:3275	thymoma		ISO	RGD:1354015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8823934	Htra3	HtrA serine peptidase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1354015	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8823934	Htra3	HtrA serine peptidase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8823934	Htra3	HtrA serine peptidase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8823950	Rasa1	RAS p21 protein activator 1	gene	DOID:0111563	Sturge-Weber syndrome		ISO	RGD:732468	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Parkes Weber syndrome	PMID:25741868|PMID:28492532
8823950	Rasa1	RAS p21 protein activator 1	gene	DOID:11294	arteriovenous malformation		ISO	RGD:732468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arteriovenous malformation	PMID:39434542
8823950	Rasa1	RAS p21 protein activator 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:732468	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27158780
8823950	Rasa1	RAS p21 protein activator 1	gene	DOID:1909	melanoma		ISO	RGD:732468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8823950	Rasa1	RAS p21 protein activator 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:732468	D	RGD:7240710	20230505	OMIM			
8823950	Rasa1	RAS p21 protein activator 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:732468	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: RASA1-related condition	PMID:15574420|PMID:18363760|PMID:18446851|PMID:22200646|PMID:23801933|PMID:24038909|PMID:24274751|PMID:25040287|PMID:25741868|PMID:27081547|PMID:28295764|PMID:28492532|PMID:28655553|PMID:29891884|PMID:33248299|PMID:36980822|PMID:8275088|PMID:9219684
8823950	Rasa1	RAS p21 protein activator 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:732468	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: RASA1-related condition	PMID:22200646|PMID:23801933|PMID:25741868|PMID:28492532|PMID:29110021
8823950	Rasa1	RAS p21 protein activator 1	gene	DOID:305	carcinoma		ISO	RGD:732468	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12606953
8823950	Rasa1	RAS p21 protein activator 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:732468	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27158780
8823950	Rasa1	RAS p21 protein activator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823950	Rasa1	RAS p21 protein activator 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:732468	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12606953
8823950	Rasa1	RAS p21 protein activator 1	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:732468	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14639529
8823950	Rasa1	RAS p21 protein activator 1	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:732468	D	RGD:9068941	20200609	RGD		DNA:mutations:exons:multiple (human)	PMID:14639529|REF_RGD_ID:734495
8823950	Rasa1	RAS p21 protein activator 1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:732469	D	RGD:9068941	20200609	RGD		in males;protein:decreased expression:heart left ventricle (mouse)	PMID:24157234|REF_RGD_ID:9999450
8823950	Rasa1	RAS p21 protein activator 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:732468	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12606953
8823950	Rasa1	RAS p21 protein activator 1	gene	DOID:9005469	Capillary Malformation-Arteriovenous Malformation		ISO	RGD:732468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome	PMID:16199547|PMID:17576681|PMID:21626678|PMID:22200646|PMID:23801933|PMID:24038909|PMID:25640679|PMID:25741868|PMID:26774077|PMID:28492532|PMID:28655553|PMID:29110021|PMID:29891884|PMID:30120215|PMID:9536098
8823950	Rasa1	RAS p21 protein activator 1	gene	DOID:9005469	Capillary Malformation-Arteriovenous Malformation	susceptibility	ISO	RGD:732468	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:14639529|REF_RGD_ID:734495
8823950	Rasa1	RAS p21 protein activator 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:732468	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8823950	Rasa1	RAS p21 protein activator 1	gene	DOID:9008640	Capillary Malformation-Arteriovenous Malformation 1		ISO	RGD:732468	D	RGD:7240710	20190327	OMIM			
8823950	Rasa1	RAS p21 protein activator 1	gene	DOID:9008640	Capillary Malformation-Arteriovenous Malformation 1		ISO	RGD:732468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1	PMID:22200646|PMID:23801933|PMID:24038909|PMID:25741868|PMID:28492532|PMID:29110021
8823979	Dph2	diphthamide biosynthesis 2	gene	DOID:0070478	diphthamide deficiency syndrome 2		ISO	RGD:1312184	D	RGD:7240710	20221123	OMIM			
8823979	Dph2	diphthamide biosynthesis 2	gene	DOID:0070478	diphthamide deficiency syndrome 2		ISO	RGD:1312184	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 | ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2	PMID:25741868|PMID:27421267|PMID:32576952
8823979	Dph2	diphthamide biosynthesis 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8823979	Dph2	diphthamide biosynthesis 2	gene	DOID:1909	melanoma		ISO	RGD:1312184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8823979	Dph2	diphthamide biosynthesis 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312184	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8823979	Dph2	diphthamide biosynthesis 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8823979	Dph2	diphthamide biosynthesis 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8823979	Dph2	diphthamide biosynthesis 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8823979	Dph2	diphthamide biosynthesis 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8823997	Spg7	SPG7 matrix AAA peptidase subunit, paraplegin	gene	DOID:0110816	hereditary spastic paraplegia 7		ISO	RGD:1551589	D	RGD:9068941	20220825	MouseDO		OMIM:607259	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1316326	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:10534	stomach cancer		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:1115	sarcoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:1324	lung cancer		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1316326	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18239605
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:1612	breast cancer		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:1909	melanoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:2394	ovarian cancer		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:2526	prostate adenocarcinoma	ameliorates	ISO	RGD:1316326	D	RGD:9068941	20220818	RGD		mRNA:increased expression:prostate gland (human)	PMID:31964418|REF_RGD_ID:153344516
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:3070	high grade glioma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:3275	thymoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:3907	lung squamous cell carcinoma	disease_progression	ISO	RGD:1316326	D	RGD:9068941	20220818	RGD		mRNA:increased expression:lung (human)	PMID:31964418|REF_RGD_ID:153344516
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:3948	adrenocortical carcinoma	exacerbates	ISO	RGD:1316326	D	RGD:9068941	20220818	RGD		mRNA:increased expression:adrenal gland (human)	PMID:31964418|REF_RGD_ID:153344516
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:4362	cervical cancer		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:4467	clear cell renal cell carcinoma	ameliorates	ISO	RGD:1316326	D	RGD:9068941	20220818	RGD		mRNA:increased expression:kidney (human)	PMID:31964418|REF_RGD_ID:153344516
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:4947	cholangiocarcinoma	ameliorates	ISO	RGD:1316326	D	RGD:9068941	20220818	RGD		mRNA:increased expression:bile duct (human)	PMID:31964418|REF_RGD_ID:153344516
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1316326	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:6039	uveal melanoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:9003654	Testicular Germ Cell Tumor	disease_progression	ISO	RGD:1316326	D	RGD:9068941	20220818	RGD		mRNA:decreased expression:testis (human)	PMID:31964418|REF_RGD_ID:153344516
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8824021	Birc6	baculoviral IAP repeat containing 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8824098	Blvra	biliverdin reductase A	gene	DOID:0080600	COVID-19		ISO	RGD:733010	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8824098	Blvra	biliverdin reductase A	gene	DOID:10534	stomach cancer		ISO	RGD:733010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824098	Blvra	biliverdin reductase A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8824098	Blvra	biliverdin reductase A	gene	DOID:1324	lung cancer		ISO	RGD:733010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8824098	Blvra	biliverdin reductase A	gene	DOID:13580	cholestasis		ISO	RGD:733010	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18706437
8824098	Blvra	biliverdin reductase A	gene	DOID:3275	thymoma		ISO	RGD:733010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8824098	Blvra	biliverdin reductase A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:733010	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8824098	Blvra	biliverdin reductase A	gene	DOID:9008068	Hyperbiliverdinemia		ISO	RGD:733010	D	RGD:7240710	20180130	OMIM			
8824098	Blvra	biliverdin reductase A	gene	DOID:9008068	Hyperbiliverdinemia		ISO	RGD:733010	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BLVRA-related condition | ClinVar Annotator: match by term: HYPERBILIVERDINEMIA | ClinVar Annotator: match by term: Hyperbiliverdinemia | ClinVar Annotator: match by term: hyperbiliverdinemia	PMID:25741868|PMID:28492532
8824098	Blvra	biliverdin reductase A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733010	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8824130	Calm1	calmodulin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8824130	Calm1	calmodulin 1	gene	DOID:0050741	alcohol dependence		ISO	RGD:2257	D	RGD:9068941	20250529	RGD		mRNA:increased expession:brain (rat)	PMID:11072096|REF_RGD_ID:616363140
8824130	Calm1	calmodulin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8824130	Calm1	calmodulin 1	gene	DOID:0060674	catecholaminergic polymorphic ventricular tachycardia		ISO	RGD:735369	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia	PMID:23040497|PMID:24563457|PMID:24816216|PMID:25557436|PMID:25741868|PMID:26164367|PMID:26309258|PMID:27165696|PMID:28492532|PMID:37380439
8824130	Calm1	calmodulin 1	gene	DOID:0060678	catecholaminergic polymorphic ventricular tachycardia 4		ISO	RGD:735369	D	RGD:7240710	20180130	OMIM			
8824130	Calm1	calmodulin 1	gene	DOID:0060678	catecholaminergic polymorphic ventricular tachycardia 4		ISO	RGD:735369	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 4 | ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 4	PMID:11569915|PMID:17576681|PMID:23040497|PMID:23388215|PMID:24076290|PMID:24563457|PMID:24816216|PMID:24958779|PMID:25036739|PMID:25557436|PMID:25741868|PMID:26164367|PMID:26309258|PMID:26969752|PMID:26975778|PMID:27165696|PMID:27374306|PMID:27927985|PMID:28158429|PMID:28492532|PMID:30384889|PMID:37528649|PMID:9536098
8824130	Calm1	calmodulin 1	gene	DOID:0110655	long QT syndrome 14		ISO	RGD:735369	D	RGD:7240710	20180130	OMIM			
8824130	Calm1	calmodulin 1	gene	DOID:0110655	long QT syndrome 14		ISO	RGD:735369	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LONG QT SYNDROME 14 | ClinVar Annotator: match by term: Long QT syndrome 14	PMID:17576681|PMID:23388215|PMID:24076290|PMID:24563457|PMID:24816216|PMID:24958779|PMID:25036739|PMID:25741868|PMID:26164367|PMID:26969752|PMID:27165696|PMID:27927985|PMID:28158429|PMID:28492532|PMID:30384889|PMID:31454269|PMID:37528649|PMID:9536098
8824130	Calm1	calmodulin 1	gene	DOID:10534	stomach cancer		ISO	RGD:735369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824130	Calm1	calmodulin 1	gene	DOID:1059	intellectual disability		ISO	RGD:735369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:41467504
8824130	Calm1	calmodulin 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735369	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11470324
8824130	Calm1	calmodulin 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735369	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebellar cortex:	PMID:11470324|REF_RGD_ID:13792493
8824130	Calm1	calmodulin 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:735369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:41467504
8824130	Calm1	calmodulin 1	gene	DOID:1115	sarcoma		ISO	RGD:735369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
8824130	Calm1	calmodulin 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy	PMID:25741868
8824130	Calm1	calmodulin 1	gene	DOID:1324	lung cancer		ISO	RGD:735369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8824130	Calm1	calmodulin 1	gene	DOID:1826	epilepsy		ISO	RGD:735369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:41467504
8824130	Calm1	calmodulin 1	gene	DOID:2843	long QT syndrome		ISO	RGD:735369	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:25741868|PMID:25741871
8824130	Calm1	calmodulin 1	gene	DOID:4362	cervical cancer		ISO	RGD:735369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8824130	Calm1	calmodulin 1	gene	DOID:5062	phencyclidine abuse		ISO	RGD:735369	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
8824130	Calm1	calmodulin 1	gene	DOID:540	strabismus		ISO	RGD:735369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:41467504
8824130	Calm1	calmodulin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824130	Calm1	calmodulin 1	gene	DOID:9001581	Constipation		ISO	RGD:735369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:41467504
8824130	Calm1	calmodulin 1	gene	DOID:9002735	alcohol withdrawal syndrome		ISO	RGD:2257	D	RGD:9068941	20250529	RGD		mRNA:increased expession:brain (rat)	PMID:11072096|REF_RGD_ID:616363140
8824130	Calm1	calmodulin 1	gene	DOID:9003132	Sialorrhea		ISO	RGD:735369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868|PMID:41467504
8824130	Calm1	calmodulin 1	gene	DOID:9004657	Weight Gain		ISO	RGD:735369	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8824130	Calm1	calmodulin 1	gene	DOID:9004866	Ataxia		ISO	RGD:735369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:41467504
8824130	Calm1	calmodulin 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:735369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:41467504
8824130	Calm1	calmodulin 1	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:735369	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
8824130	Calm1	calmodulin 1	gene	DOID:9007661	Dwarfism		ISO	RGD:735369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:41467504
8824130	Calm1	calmodulin 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:735369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:41467504
8824130	Calm1	calmodulin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8824130	Calm1	calmodulin 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2257	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:heart	PMID:21216827|REF_RGD_ID:6892953
8824130	Calm1	calmodulin 1	gene	DOID:9505	cannabis abuse		ISO	RGD:735369	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
8824130	Calm1	calmodulin 1	gene	DOID:9840	esotropia		ISO	RGD:735369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868|PMID:41467504
8824140	Sh2d1b	SH2 domain containing 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8824140	Sh2d1b	SH2 domain containing 1B	gene	DOID:1115	sarcoma		ISO	RGD:1606747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8824140	Sh2d1b	SH2 domain containing 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:0111364	Alzheimer's disease 9		ISO	RGD:1601775	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: ABCA7-related condition | ClinVar Annotator: match by term: ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Alzheimer disease 9	PMID:25741868|PMID:25807283|PMID:26141617|PMID:28097223|PMID:28447221|PMID:28492532|PMID:28789839|PMID:36133075|PMID:38281098
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:0111364	Alzheimer's disease 9	susceptibility	ISO	RGD:1601775	D	RGD:7240710	20190502	OMIM			
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:10534	stomach cancer		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1601775	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:21460840|PMID:25807283
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:1115	sarcoma		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:1324	lung cancer		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:1909	melanoma		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:3275	thymoma		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868|PMID:27037229|PMID:31381512|PMID:35361255
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:4362	cervical cancer		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:440	neuromuscular disease		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601775	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1601775	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:9000918	Disease Progression		ISO	RGD:1601775	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8824148	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:0050833	orotic aciduria		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orotic aciduria	PMID:35433176
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:736136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:11941481|PMID:12815590|PMID:14680976|PMID:18473344|PMID:18925679|PMID:23780642|PMID:25741868|PMID:28111830|PMID:28492532
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:0070340	classic citrullinemia		ISO	RGD:736136	D	RGD:7240710	20200228	OMIM			
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:0070340	classic citrullinemia		ISO	RGD:736136	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Citrullinemia 1 | ClinVar Annotator: match by term: Citrullinemia type I	PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:19684305|PMID:20005624|PMID:20301396|PMID:20301631|PMID:20724589|PMID:20818742|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27168972|PMID:27287393|PMID:27629047|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30612563|PMID:30904546|PMID:31056765|PMID:31208364|PMID:3146925|PMID:31469252|PMID:31737040|PMID:32778825|PMID:32860008|PMID:33190319|PMID:33851512|PMID:36680390|PMID:36685561|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:934749|PMID:9536098
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:0070340	classic citrullinemia		ISO	RGD:736136	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ASS deficiency | ClinVar Annotator: match by term: Citrullinemia type I	PMID:10720040|PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15580409|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:19684305|PMID:20005624|PMID:20301396|PMID:20301631|PMID:20661889|PMID:20724589|PMID:20818742|PMID:20852933|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:21609351|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:24927999|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27168972|PMID:27287393|PMID:27629047|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30612563|PMID:30904546|PMID:31056765|PMID:31208364|PMID:3146925|PMID:31469252|PMID:31737040|PMID:3260007|PMID:32778825|PMID:32860008|PMID:33190319|PMID:33617202|PMID:33851512|PMID:35095998|PMID:36680390|PMID:36685561|PMID:37308883|PMID:37443404|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:934749|PMID:9536098
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:0070340	classic citrullinemia		ISO	RGD:736136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ASS deficiency | ClinVar Annotator: match by term: ASS1-related disorder | ClinVar Annotator: match by term: CITRULLINEMIA, CLASSIC | ClinVar Annotator: match by term: Citrullinemia type I | ClinVar Annotator: match by term: argininosuccinate synthetase deficiency | ClinVar Annotator: match by term: citrullinemia type I	PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15164414|PMID:15266621|PMID:15334737|PMID:15580409|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:16889683|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:1943692|PMID:19684305|PMID:20005624|PMID:20301396|PMID:20301631|PMID:20724589|PMID:20818742|PMID:20852933|PMID:21227727|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:24927999|PMID:25047749|PMID:25179242|PMID:25326637|PMID:25433810|PMID:25537548|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27168972|PMID:27287393|PMID:27629047|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28468868|PMID:28492532|PMID:30030962|PMID:30285816|PMID:30612563|PMID:30626930|PMID:30904546|PMID:31056765|PMID:31208364|PMID:31426867|PMID:3146925|PMID:31469252|PMID:31737040|PMID:31980526|PMID:32778825|PMID:32860008|PMID:33190319|PMID:33617202|PMID:33851512|PMID:34159013|PMID:35095998|PMID:35281663|PMID:35433176|PMID:35726796|PMID:36246604|PMID:36263152|PMID:36680390|PMID:36685561|PMID:36939041|PMID:37308883|PMID:37443404|PMID:37485339|PMID:37603033|PMID:37906139|PMID:39175751|PMID:39519275|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:9536098
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:0081329	glycogen storage disease I		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency	PMID:11708871|PMID:12815590|PMID:16475226|PMID:25741868|PMID:27287393|PMID:28492532|PMID:31469252|PMID:35281663
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:1059	intellectual disability		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:35433176
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736136	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, glial cell (human)	PMID:11556547|REF_RGD_ID:4139898
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:11713	diabetic angiopathy		ISO	RGD:736136	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25033204
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:13141	uveitis		ISO	RGD:2163	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:eye (rat)	PMID:12470967|REF_RGD_ID:631755
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:1826	epilepsy		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:23099195|PMID:25741868|PMID:28492532|PMID:35433176
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:1909	melanoma		ISO	RGD:736136	D	RGD:9068941	20200609	RGD			PMID:12359751|REF_RGD_ID:4140479
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:2749	glycogen storage disease Ia		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatorenal glycogenosis	PMID:11708871|PMID:12815590|PMID:16475226|PMID:25741868|PMID:27287393|PMID:28492532|PMID:31469252|PMID:35281663
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:409	liver disease		ISO	RGD:736136	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31651977
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:630	genetic disease		ISO	RGD:736136	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11708871|PMID:11941481|PMID:12815590|PMID:16421053|PMID:16475226|PMID:18473344|PMID:18925679|PMID:19006241|PMID:19358837|PMID:23430935|PMID:2358466|PMID:25047749|PMID:25433810|PMID:25741868|PMID:28111830|PMID:28492532|PMID:30285816|PMID:31469252|PMID:32778825|PMID:36263152|PMID:36680390|PMID:37443404|PMID:8792870
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:630	genetic disease		ISO	RGD:736136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18925679|PMID:25047749|PMID:25741868|PMID:28111830|PMID:28492532|PMID:30285816|PMID:31469252|PMID:37443404
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736136	D	RGD:9068941	20200609	RGD			PMID:12359751|REF_RGD_ID:4140479
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:736136	D	RGD:9068941	20220616	RGD		associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human)	PMID:30901224|REF_RGD_ID:152995286
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2163	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:19914391|REF_RGD_ID:4140452
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9002669	Hypoxia		ISO	RGD:2163	D	RGD:9068941	20200609	RGD		protein:increased activity:brain (rat)	PMID:20567615|REF_RGD_ID:4110824
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9002916	Hyperphagia		ISO	RGD:2163	D	RGD:9068941	20251218	RGD		protein:decreased enzyme activity:liver	PMID:4062872|REF_RGD_ID:2300098
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9003507	Premature Birth		ISO	RGD:736136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:11941481|PMID:12815590|PMID:14680976|PMID:18473344|PMID:18925679|PMID:23780642|PMID:25741868|PMID:28111830|PMID:28492532
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9004009	Reperfusion Injury	resistance	ISO	RGD:2163	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, neuron (rat)	PMID:17198704|REF_RGD_ID:1599263
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:736136	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:35172013
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:736136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:11941481|PMID:12815590|PMID:14680976|PMID:18473344|PMID:18925679|PMID:23780642|PMID:25741868|PMID:28111830|PMID:28492532
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9004713	Acute-Phase Reaction		ISO	RGD:2163	D	RGD:9068941	20200609	RGD			PMID:15698416|REF_RGD_ID:1599305
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9005077	Joint Instability		ISO	RGD:736136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:11941481|PMID:12815590|PMID:14680976|PMID:18473344|PMID:18925679|PMID:23780642|PMID:25741868|PMID:28111830|PMID:28492532
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:736136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:12815590|PMID:14680976|PMID:16124451|PMID:16475226|PMID:2358466|PMID:25537548|PMID:25741868|PMID:26117549|PMID:28111830|PMID:28492532|PMID:30904546|PMID:31056765|PMID:31469252|PMID:8792870
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2163	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:aorta (rat)	PMID:11384198|REF_RGD_ID:1599310
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:2163	D	RGD:9068941	20200609	RGD			PMID:10652239|REF_RGD_ID:1599265
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:2163	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:20544730|REF_RGD_ID:4140449
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9007480	Hyperoxia		ISO	RGD:2163	D	RGD:9068941	20200609	RGD		protein:increased expression:lung (rat)	PMID:20805789|REF_RGD_ID:4142785
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:35433176
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9007736	Vertigo		ISO	RGD:736136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:11941481|PMID:12815590|PMID:14680976|PMID:18473344|PMID:18925679|PMID:23780642|PMID:25741868|PMID:28111830|PMID:28492532
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9007874	Liver Failure		ISO	RGD:2163	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:11779202|REF_RGD_ID:70249
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9008385	Vomiting		ISO	RGD:736136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:12815590|PMID:14680976|PMID:16124451|PMID:16475226|PMID:2358466|PMID:25537548|PMID:25741868|PMID:26117549|PMID:28111830|PMID:28492532|PMID:30904546|PMID:31056765|PMID:31469252|PMID:8792870
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9008617	Lethargy		ISO	RGD:736136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:12815590|PMID:14680976|PMID:16124451|PMID:16475226|PMID:2358466|PMID:25537548|PMID:25741868|PMID:26117549|PMID:28111830|PMID:28492532|PMID:30904546|PMID:31056765|PMID:31469252|PMID:8792870
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9008972	Hyperammonemia		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:23099195|PMID:25741868
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9273	citrullinemia		ISO	RGD:736136	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild | ClinVar Annotator: match by term: Citrullinuria	PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25640679|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27287393|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30904546|PMID:31056765|PMID:31469252|PMID:31980526|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:9536098
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9273	citrullinemia		ISO	RGD:736136	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild | ClinVar Annotator: match by term: Citrullinuria	PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25640679|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27168972|PMID:27287393|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30904546|PMID:31056765|PMID:31469252|PMID:31980526|PMID:32778825|PMID:33851512|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:9536098
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9273	citrullinemia		ISO	RGD:736136	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild | ClinVar Annotator: match by term: Citrullinuria	PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:19684305|PMID:20005624|PMID:20724589|PMID:20818742|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25640679|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27168972|PMID:27287393|PMID:27629047|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30612563|PMID:30904546|PMID:31056765|PMID:31208364|PMID:3146925|PMID:31469252|PMID:31737040|PMID:31980526|PMID:32778825|PMID:33851512|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:934749|PMID:9536098
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9273	citrullinemia		ISO	RGD:736136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinuria | ClinVar Annotator: match by term: citrullinemia	PMID:11708871|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18925679|PMID:19006241|PMID:19358837|PMID:20724589|PMID:20852933|PMID:21227727|PMID:21244552|PMID:22494545|PMID:22768672|PMID:22885444|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23780642|PMID:24713661|PMID:24765495|PMID:24889030|PMID:24927999|PMID:25047749|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25640679|PMID:25741868|PMID:26117549|PMID:2615645|PMID:27287393|PMID:27629047|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:30035404|PMID:30285816|PMID:30612563|PMID:30904546|PMID:31056765|PMID:3146925|PMID:31469252|PMID:32778825|PMID:33190319|PMID:33851512|PMID:35085585|PMID:35281663|PMID:35433176|PMID:35726796|PMID:36263152|PMID:36680390|PMID:37443404|PMID:7977368|PMID:8792870|PMID:9090528|PMID:9536098
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9273	citrullinemia	susceptibility	ISO	RGD:736136	D	RGD:9068941	20200609	RGD			PMID:7557970|REF_RGD_ID:1599301
8824205	Ass1	argininosuccinate synthase 1	gene	DOID:9834	hyperopia		ISO	RGD:736136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:11941481|PMID:12815590|PMID:14680976|PMID:18473344|PMID:18925679|PMID:23780642|PMID:25741868|PMID:28111830|PMID:28492532
8824225	Tafa2	TAFA chemokine like family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8824225	Tafa2	TAFA chemokine like family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824225	Tafa2	TAFA chemokine like family member 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1345895	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29339520
8824225	Tafa2	TAFA chemokine like family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824225	Tafa2	TAFA chemokine like family member 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1345895	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29339520
8824225	Tafa2	TAFA chemokine like family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8824225	Tafa2	TAFA chemokine like family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8824239	Tshz2	teashirt zinc finger homeobox 2	gene	DOID:0080600	COVID-19		ISO	RGD:1353516	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8824239	Tshz2	teashirt zinc finger homeobox 2	gene	DOID:10534	stomach cancer		ISO	RGD:1353516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824239	Tshz2	teashirt zinc finger homeobox 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8824239	Tshz2	teashirt zinc finger homeobox 2	gene	DOID:1324	lung cancer		ISO	RGD:1353516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8824239	Tshz2	teashirt zinc finger homeobox 2	gene	DOID:1909	melanoma		ISO	RGD:1353516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8824239	Tshz2	teashirt zinc finger homeobox 2	gene	DOID:4362	cervical cancer		ISO	RGD:1353516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8824239	Tshz2	teashirt zinc finger homeobox 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1353516	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8824239	Tshz2	teashirt zinc finger homeobox 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:0050645	arterial tortuosity syndrome		ISO	RGD:1315233	D	RGD:7240710	20180130	OMIM			
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:0050645	arterial tortuosity syndrome		ISO	RGD:1315233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: ARTERIAL TORTUOSITY SYNDROME | ClinVar Annotator: match by term: Arterial tortuosity | ClinVar Annotator: match by term: Arterial tortuosity syndrome | ClinVar Annotator: match by term: SLC2A10-related condition	PMID:16199547|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18565096|PMID:18774132|PMID:18818946|PMID:19781076|PMID:22488877|PMID:23494979|PMID:24033266|PMID:25373504|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26376865|PMID:27153185|PMID:28492532|PMID:28726533|PMID:28829359|PMID:28855619|PMID:29323665|PMID:29543232|PMID:29843651|PMID:29907982|PMID:30090112|PMID:30425910|PMID:32368696|PMID:33461977|PMID:34384376|PMID:34498425|PMID:34668355|PMID:34847858|PMID:35918752|PMID:36578839|PMID:37619836|PMID:9536098
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:0050840	cervical dystonia		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:0050847	sleep apnea		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:0060249	scoliosis		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:0060313	tracheomalacia		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tracheomalacia	PMID:16550171|PMID:17935213|PMID:19781076|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910|PMID:34847858
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:0060320	inguinal hernia		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:16550171|PMID:17935213|PMID:19781076|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:34847858
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:0060321	umbilical hernia		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:16550171|PMID:17935213|PMID:19781076|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:34847858
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:25741868|PMID:28492532
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:0080821	exercise-induced bronchoconstriction		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Exercise-induced asthma	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:0080833	laryngomalacia		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:10126	keratoconus		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Keratoconus	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:10480	diaphragmatic eventration		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diaphragmatic eventration	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:10534	stomach cancer		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:10608	celiac disease		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Celiac disease	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:11111	hydronephrosis		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:11353	bladder diverticulum		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diverticulum of bladder	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:11782	astigmatism		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:11830	myopia		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:16550171|PMID:17935213|PMID:19781076|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910|PMID:34498425|PMID:34847858
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:12642	hiatus hernia		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hiatus hernia	PMID:16550171|PMID:17935213|PMID:18565096|PMID:18774132|PMID:19781076|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910|PMID:34847858|PMID:36578839
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:1324	lung cancer		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:16550171|PMID:17935213|PMID:19781076|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:34847858
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:14569121|PMID:16550171|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25741868|PMID:25944730|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:33144682|PMID:34668355|PMID:9536098
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:14569121|PMID:16550171|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25326637|PMID:25741868|PMID:25944730|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:33144682|PMID:34668355|PMID:9536098
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:14569121|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25741868|PMID:25944730|PMID:26376865|PMID:27153185|PMID:28492532|PMID:28726533|PMID:28829359|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:33144682|PMID:34668355|PMID:34847858|PMID:9536098
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:14569121|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25326637|PMID:25741868|PMID:25944730|PMID:26376865|PMID:27153185|PMID:28492532|PMID:28726533|PMID:28829359|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:33144682|PMID:34668355|PMID:34847858|PMID:9536098
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:14569121|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25326637|PMID:25741868|PMID:25944730|PMID:26376865|PMID:27153185|PMID:28492532|PMID:28726533|PMID:28829359|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:33144682|PMID:34668355|PMID:34847858|PMID:35918752|PMID:9536098
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:14569121|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25741868|PMID:25944730|PMID:26376865|PMID:27153185|PMID:28492532|PMID:28726533|PMID:28829359|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:30425910|PMID:33144682|PMID:34498425|PMID:34668355|PMID:34847858|PMID:35918752|PMID:9536098
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:14569121|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25741868|PMID:25944730|PMID:26376865|PMID:27153185|PMID:28492532|PMID:28726533|PMID:28829359|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:30425910|PMID:33144682|PMID:34498425|PMID:34668355|PMID:34847858|PMID:35918752|PMID:38265806|PMID:9536098
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:14569121|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25373504|PMID:25741868|PMID:25944730|PMID:26376865|PMID:27153185|PMID:28492532|PMID:28726533|PMID:28829359|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:30425910|PMID:33144682|PMID:34498425|PMID:34668355|PMID:34847858|PMID:35462107|PMID:35918752|PMID:38265806|PMID:9536098
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:14569121|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25373504|PMID:25741868|PMID:25944730|PMID:26376865|PMID:27153185|PMID:28492532|PMID:28726533|PMID:28829359|PMID:29323665|PMID:29543232|PMID:29843651|PMID:29907982|PMID:30090112|PMID:30425910|PMID:33144682|PMID:34498425|PMID:34668355|PMID:34847858|PMID:35462107|PMID:35918752|PMID:38265806|PMID:9536098
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:14569121|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19622975|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25326637|PMID:25373504|PMID:25741868|PMID:25944730|PMID:26376865|PMID:27153185|PMID:28152038|PMID:28492532|PMID:28726533|PMID:28829359|PMID:29323665|PMID:29543232|PMID:29843651|PMID:29907982|PMID:30090112|PMID:30425910|PMID:33144682|PMID:34498425|PMID:34668355|PMID:34847858|PMID:35462107|PMID:35918752|PMID:38265806|PMID:9536098
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16550171|PMID:17163528|PMID:17935213|PMID:19622975|PMID:19781076|PMID:22488877|PMID:23494979|PMID:24033266|PMID:25373504|PMID:25392904|PMID:25741868|PMID:26376865|PMID:27153185|PMID:28152038|PMID:28492532|PMID:28655553|PMID:28726533|PMID:28756087|PMID:28829359|PMID:29323665|PMID:29543232|PMID:29843651|PMID:29907982|PMID:30090112|PMID:30425910|PMID:31203799|PMID:34498425|PMID:34668355|PMID:34847858|PMID:35918752|PMID:36578839|PMID:9335548
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:1315233	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type	PMID:28492532
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:1596	depressive disorder		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:1657	ventricular septal defect		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:1909	melanoma		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:2030	anxiety disorder		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:2841	asthma		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:3087	gingivitis		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:3275	thymoma		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:3627	aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm | ClinVar Annotator: match by term: Aortic dilatation	PMID:16550171|PMID:17935213|PMID:18565096|PMID:18774132|PMID:19781076|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910|PMID:34847858|PMID:36578839
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:480	movement disease		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1315233	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:520	aortic disease		ISO	RGD:1315233	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial aortopathy	PMID:16550171|PMID:17935213|PMID:18565096|PMID:18774132|PMID:25373504|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30090112|PMID:30425910|PMID:36578839
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9001031	Retrognathia		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:16550171|PMID:17935213|PMID:19781076|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:34847858
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nasal polyposis	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9001516	Familial Thoracic Aortic Aneurysm 6		ISO	RGD:1315233	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6	PMID:25741868|PMID:28492532
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9001665	Aneurysm		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aneurysm	PMID:17935213|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:29543232
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9001733	Tinnitus		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9003279	Joint Dislocations		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint dislocation	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9003539	Hyperacusis		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9005077	Joint Instability		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:16550171|PMID:17935213|PMID:18565096|PMID:18774132|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910|PMID:34498425|PMID:36578839
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910|PMID:34498425
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9005616	Micrognathism		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:16550171|PMID:17935213|PMID:19781076|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910|PMID:34847858
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9007366	Pulmonary Artery Stenosis		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonary artery stenosis	PMID:16550171|PMID:17935213|PMID:19781076|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910|PMID:34847858
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9007559	Thyroglossal Cyst		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroglossal cyst	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9007573	Flatfoot		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:16550171|PMID:18565096|PMID:18774132|PMID:25741868|PMID:28492532|PMID:29323665|PMID:36578839
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:16550171|PMID:17935213|PMID:19781076|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:34847858
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9007736	Vertigo		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9008023	Memory Disorders		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1315233	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151356
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9009005	Familial Thoracic Aortic Aneurysm 2		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2	PMID:25741868|PMID:28492532
8824245	Slc2a10	solute carrier family 2 member 10	gene	DOID:9834	hyperopia		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910|PMID:34498425
8824262	LOC102018506	cytochrome c oxidase subunit 4 isoform 2, mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8824262	LOC102018506	cytochrome c oxidase subunit 4 isoform 2, mitochondrial	gene	DOID:9005288	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis		ISO	RGD:735839	D	RGD:7240710	20180130	OMIM			
8824262	LOC102018506	cytochrome c oxidase subunit 4 isoform 2, mitochondrial	gene	DOID:9005288	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis		ISO	RGD:735839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic insufficiency-anemia-hyperostosis syndrome	PMID:25741868|PMID:28492532
8824283	Commd1	copper metabolism domain containing 1	gene	DOID:1205	allergic disease		ISO	RGD:1323402	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22216203
8824283	Commd1	copper metabolism domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8824283	Commd1	copper metabolism domain containing 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1323402	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17919502
8824283	Commd1	copper metabolism domain containing 1	gene	DOID:893	Wilson disease		ISO	RGD:12302435	D	RGD:9068941	20240725	OMIA		Copper toxicosis, COMMD1-related	PMID:10384054|PMID:10442980|PMID:10585777|PMID:10772489|PMID:10803990|PMID:10818210|PMID:10901220|PMID:11234968|PMID:11393371|PMID:11809725|PMID:12450209|PMID:12547404|PMID:12648098|PMID:12816967|PMID:12925897|PMID:1380748|PMID:14568250|PMID:15028882|PMID:15205742|PMID:15566097|PMID:16293123|PMID:16649058|PMID:16868807|PMID:17099181|PMID:17355395|PMID:17572118|PMID:18305350|PMID:22029820|PMID:22879914|PMID:24758744|PMID:31179308|PMID:31504675|PMID:31557851|PMID:32053895|PMID:33129558|PMID:3343179|PMID:33668783|PMID:37038639|PMID:37594835|PMID:37741465|PMID:38682427|PMID:6639527|PMID:6710813|PMID:6869968|PMID:6939891|PMID:7065120|PMID:7114265|PMID:7212417|PMID:8432554|PMID:8989491|PMID:9587195|PMID:9949209
8824283	Commd1	copper metabolism domain containing 1	gene	DOID:9006395	Copper-Overload Cirrhosis		ISO	RGD:1323402	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22879914
8824283	Commd1	copper metabolism domain containing 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1323402	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23583003
8824283	Commd1	copper metabolism domain containing 1	gene	DOID:9006855	Dog Diseases		ISO	RGD:1323402	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17919502
8824283	Commd1	copper metabolism domain containing 1	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:1323402	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22879914|PMID:25053573
8824295	Dffa	DNA fragmentation factor subunit alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8824295	Dffa	DNA fragmentation factor subunit alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8824295	Dffa	DNA fragmentation factor subunit alpha	gene	DOID:2394	ovarian cancer		ISO	RGD:1606338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8824295	Dffa	DNA fragmentation factor subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824295	Dffa	DNA fragmentation factor subunit alpha	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8824295	Dffa	DNA fragmentation factor subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8824296	Rab7a	RAB7A, member RAS oncogene family	gene	DOID:0110159	Charcot-Marie-Tooth disease type 2B		ISO	RGD:1351789	D	RGD:7240710	20180130	OMIM			
8824296	Rab7a	RAB7A, member RAS oncogene family	gene	DOID:0110159	Charcot-Marie-Tooth disease type 2B		ISO	RGD:1351789	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2b | ClinVar Annotator: match by term: Hereditary sodium channelopathy-related small fibers neuropathy	PMID:15455439|PMID:17060578|PMID:17576681|PMID:18272684|PMID:18501189|PMID:20464402|PMID:21151572|PMID:23179371|PMID:23188822|PMID:23458836|PMID:23616551|PMID:24327558|PMID:24344282|PMID:24498653|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26791407|PMID:28492532|PMID:29130394|PMID:30612743|PMID:32326241|PMID:33846303|PMID:35887194|PMID:9536098
8824296	Rab7a	RAB7A, member RAS oncogene family	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1351789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:15455439|PMID:18272684|PMID:23188822|PMID:24498653|PMID:25741868|PMID:26467025|PMID:26791407|PMID:28492532|PMID:29130394
8824296	Rab7a	RAB7A, member RAS oncogene family	gene	DOID:1909	melanoma		ISO	RGD:1351789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8824296	Rab7a	RAB7A, member RAS oncogene family	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8824296	Rab7a	RAB7A, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824296	Rab7a	RAB7A, member RAS oncogene family	gene	DOID:630	genetic disease		ISO	RGD:1351789	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
8824296	Rab7a	RAB7A, member RAS oncogene family	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8824296	Rab7a	RAB7A, member RAS oncogene family	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1351789	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:0060058	lymphoma		ISO	RGD:1312218	D	RGD:9068941	20230413	RGD			PMID:11423979|REF_RGD_ID:1599865
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:0060982	mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition		ISO	RGD:1312218	D	RGD:7240710	20230125	OMIM			
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:0060982	mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition		ISO	RGD:1312218	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition	PMID:25741868
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:0080141	mosaic variegated aneuploidy syndrome 1		ISO	RGD:1312218	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1	PMID:25741868
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1312218	D	RGD:7240710	20180418	OMIM			
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:1909	melanoma		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312218	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1312218	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:9000466	Prostate Cancer, Somatic		ISO	RGD:1312218	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PROSTATE CANCER, SOMATIC	PMID:25741868
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1312218	D	RGD:9068941	20200609	RGD			PMID:11423979|REF_RGD_ID:1599865
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1312218	D	RGD:9068941	20250206	CTD		CTD Direct Evidence: marker/mechanism	
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1312218	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23666239
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312218	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1312218	D	RGD:9068941	20200609	RGD			PMID:11423979|REF_RGD_ID:1599865
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312218	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8824306	Mad1l1	mitotic arrest deficient 1 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8824360	Rpl7l1	ribosomal protein L7 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8824360	Rpl7l1	ribosomal protein L7 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824360	Rpl7l1	ribosomal protein L7 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8824360	Rpl7l1	ribosomal protein L7 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1352288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8824360	Rpl7l1	ribosomal protein L7 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824360	Rpl7l1	ribosomal protein L7 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8824381	Atad1	ATPase family AAA domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8824381	Atad1	ATPase family AAA domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8824381	Atad1	ATPase family AAA domain containing 1	gene	DOID:0080581	hyperekplexia 4		ISO	RGD:1318420	D	RGD:7240710	20190315	OMIM			
8824381	Atad1	ATPase family AAA domain containing 1	gene	DOID:0080581	hyperekplexia 4		ISO	RGD:1318420	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATAD1-related condition | ClinVar Annotator: match by term: HYPEREKPLEXIA 4 | ClinVar Annotator: match by term: Hyperekplexia 4	PMID:25741868|PMID:28180185|PMID:28492532|PMID:29390050|PMID:33134516
8824381	Atad1	ATPase family AAA domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824381	Atad1	ATPase family AAA domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8824381	Atad1	ATPase family AAA domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1318420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8824381	Atad1	ATPase family AAA domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1318420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8824404	Trappc3l	trafficking protein particle complex subunit 3L	gene	DOID:1115	sarcoma		ISO	RGD:1342888	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8824466	Dnajc22	DnaJ heat shock protein family (Hsp40) member C22	gene	DOID:10534	stomach cancer		ISO	RGD:1602458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824466	Dnajc22	DnaJ heat shock protein family (Hsp40) member C22	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8824466	Dnajc22	DnaJ heat shock protein family (Hsp40) member C22	gene	DOID:1115	sarcoma		ISO	RGD:1602458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8824466	Dnajc22	DnaJ heat shock protein family (Hsp40) member C22	gene	DOID:1324	lung cancer		ISO	RGD:1602458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8824466	Dnajc22	DnaJ heat shock protein family (Hsp40) member C22	gene	DOID:5041	esophageal cancer		ISO	RGD:1602458	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8824466	Dnajc22	DnaJ heat shock protein family (Hsp40) member C22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824466	Dnajc22	DnaJ heat shock protein family (Hsp40) member C22	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8824474	Spaca1	sperm acrosome associated 1	gene	DOID:0070584	spermatogenic failure 85		ISO	RGD:1344211	D	RGD:7240710	20230906	OMIM			
8824474	Spaca1	sperm acrosome associated 1	gene	DOID:0070584	spermatogenic failure 85		ISO	RGD:1344211	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 85	
8824474	Spaca1	sperm acrosome associated 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8824491	Ubn1	ubinuclein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8824491	Ubn1	ubinuclein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8824491	Ubn1	ubinuclein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824491	Ubn1	ubinuclein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8824491	Ubn1	ubinuclein 1	gene	DOID:1115	sarcoma		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8824491	Ubn1	ubinuclein 1	gene	DOID:1324	lung cancer		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8824491	Ubn1	ubinuclein 1	gene	DOID:1909	melanoma		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8824491	Ubn1	ubinuclein 1	gene	DOID:3275	thymoma		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8824491	Ubn1	ubinuclein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8824491	Ubn1	ubinuclein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323115	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8824491	Ubn1	ubinuclein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824491	Ubn1	ubinuclein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8824491	Ubn1	ubinuclein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8824491	Ubn1	ubinuclein 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1323115	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-Immune hydrops fetalis	PMID:26036949
8824491	Ubn1	ubinuclein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8824491	Ubn1	ubinuclein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8824522	Kcnk10	potassium two pore domain channel subfamily K member 10	gene	DOID:1115	sarcoma		ISO	RGD:732934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8824522	Kcnk10	potassium two pore domain channel subfamily K member 10	gene	DOID:1324	lung cancer		ISO	RGD:732934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8824522	Kcnk10	potassium two pore domain channel subfamily K member 10	gene	DOID:2316	brain ischemia		ISO	RGD:619732	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:cerebral cortex, hippocampus (rat)	PMID:15652517|REF_RGD_ID:9831167
8824522	Kcnk10	potassium two pore domain channel subfamily K member 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8824522	Kcnk10	potassium two pore domain channel subfamily K member 10	gene	DOID:5041	esophageal cancer		ISO	RGD:732934	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8824522	Kcnk10	potassium two pore domain channel subfamily K member 10	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8824522	Kcnk10	potassium two pore domain channel subfamily K member 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8824522	Kcnk10	potassium two pore domain channel subfamily K member 10	gene	DOID:9008681	Deafness		ISO	RGD:619732	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:inferior colliculus (rat)	PMID:17884299|REF_RGD_ID:2316516
8824522	Kcnk10	potassium two pore domain channel subfamily K member 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8824533	Ddx59	DEAD-box helicase 59	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8824533	Ddx59	DEAD-box helicase 59	gene	DOID:0060375	orofaciodigital syndrome V		ISO	RGD:1606490	D	RGD:7240710	20180130	OMIM			
8824533	Ddx59	DEAD-box helicase 59	gene	DOID:0060375	orofaciodigital syndrome V		ISO	RGD:1606490	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DDX59-related condition | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME V | ClinVar Annotator: match by term: Orofaciodigital syndrome V	PMID:25741868|PMID:28492532|PMID:29127725|PMID:34008892|PMID:39825153
8824533	Ddx59	DEAD-box helicase 59	gene	DOID:10534	stomach cancer		ISO	RGD:1606490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824533	Ddx59	DEAD-box helicase 59	gene	DOID:3275	thymoma		ISO	RGD:1606490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8824533	Ddx59	DEAD-box helicase 59	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824533	Ddx59	DEAD-box helicase 59	gene	DOID:630	genetic disease		ISO	RGD:1606490	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8824533	Ddx59	DEAD-box helicase 59	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8824533	Ddx59	DEAD-box helicase 59	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8824533	Ddx59	DEAD-box helicase 59	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8824548	Rpp25	ribonuclease P and MRP subunit p25	gene	DOID:12849	autistic disorder		ISO	RGD:1313231	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:prefrontal cortex	PMID:20632321|REF_RGD_ID:9743931
8824553	Ccs	copper chaperone for superoxide dismutase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8824553	Ccs	copper chaperone for superoxide dismutase	gene	DOID:1324	lung cancer		ISO	RGD:733606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8824553	Ccs	copper chaperone for superoxide dismutase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8824553	Ccs	copper chaperone for superoxide dismutase	gene	DOID:332	amyotrophic lateral sclerosis	treatment	ISO	RGD:733606	D	RGD:9068941	20200609	RGD			PMID:26826269|REF_RGD_ID:13524551
8824553	Ccs	copper chaperone for superoxide dismutase	gene	DOID:5113	nutritional deficiency disease		ISO	RGD:733606	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12514262
8824553	Ccs	copper chaperone for superoxide dismutase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824553	Ccs	copper chaperone for superoxide dismutase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8824553	Ccs	copper chaperone for superoxide dismutase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8824553	Ccs	copper chaperone for superoxide dismutase	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:733606	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25053573
8824553	Ccs	copper chaperone for superoxide dismutase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8824583	Ankrd6	ankyrin repeat domain 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8824583	Ankrd6	ankyrin repeat domain 6	gene	DOID:10534	stomach cancer		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824583	Ankrd6	ankyrin repeat domain 6	gene	DOID:1115	sarcoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8824583	Ankrd6	ankyrin repeat domain 6	gene	DOID:1324	lung cancer		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8824583	Ankrd6	ankyrin repeat domain 6	gene	DOID:1909	melanoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8824583	Ankrd6	ankyrin repeat domain 6	gene	DOID:3275	thymoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8824583	Ankrd6	ankyrin repeat domain 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8824583	Ankrd6	ankyrin repeat domain 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1317569	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8824583	Ankrd6	ankyrin repeat domain 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8824583	Ankrd6	ankyrin repeat domain 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824583	Ankrd6	ankyrin repeat domain 6	gene	DOID:6039	uveal melanoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8824583	Ankrd6	ankyrin repeat domain 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8824583	Ankrd6	ankyrin repeat domain 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8824583	Ankrd6	ankyrin repeat domain 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8824623	Pxt1	peroxisomal testis enriched protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824623	Pxt1	peroxisomal testis enriched protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8824632	Zscan20	zinc finger and SCAN domain containing 20	gene	DOID:10534	stomach cancer		ISO	RGD:1353276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824632	Zscan20	zinc finger and SCAN domain containing 20	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8824632	Zscan20	zinc finger and SCAN domain containing 20	gene	DOID:1115	sarcoma		ISO	RGD:1353276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8824632	Zscan20	zinc finger and SCAN domain containing 20	gene	DOID:5041	esophageal cancer		ISO	RGD:1353276	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8824632	Zscan20	zinc finger and SCAN domain containing 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824632	Zscan20	zinc finger and SCAN domain containing 20	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8824632	Zscan20	zinc finger and SCAN domain containing 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8824632	Zscan20	zinc finger and SCAN domain containing 20	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8824644	Oaf	out at first homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824644	Oaf	out at first homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8824644	Oaf	out at first homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8824659	Gatc	glutamyl-tRNA amidotransferase subunit C	gene	DOID:0112118	combined oxidative phosphorylation deficiency 42		ISO	RGD:1606925	D	RGD:7240710	20200520	OMIM			
8824659	Gatc	glutamyl-tRNA amidotransferase subunit C	gene	DOID:0112118	combined oxidative phosphorylation deficiency 42		ISO	RGD:1606925	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 42 | ClinVar Annotator: match by term: combined oxidative phosphorylation deficiency 42	PMID:25741868|PMID:30283131
8824659	Gatc	glutamyl-tRNA amidotransferase subunit C	gene	DOID:3070	high grade glioma		ISO	RGD:1606925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8824659	Gatc	glutamyl-tRNA amidotransferase subunit C	gene	DOID:4362	cervical cancer		ISO	RGD:1606925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8824659	Gatc	glutamyl-tRNA amidotransferase subunit C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8824659	Gatc	glutamyl-tRNA amidotransferase subunit C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824667	Cadps2	calcium dependent secretion activator 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8824667	Cadps2	calcium dependent secretion activator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8824667	Cadps2	calcium dependent secretion activator 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1557036	D	RGD:9068941	20220825	MouseDO			
8824667	Cadps2	calcium dependent secretion activator 2	gene	DOID:1115	sarcoma		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8824667	Cadps2	calcium dependent secretion activator 2	gene	DOID:12849	autistic disorder		ISO	RGD:1342691	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17380209
8824667	Cadps2	calcium dependent secretion activator 2	gene	DOID:1324	lung cancer		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8824667	Cadps2	calcium dependent secretion activator 2	gene	DOID:13580	cholestasis		ISO	RGD:1342691	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
8824667	Cadps2	calcium dependent secretion activator 2	gene	DOID:1909	melanoma		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8824667	Cadps2	calcium dependent secretion activator 2	gene	DOID:303	substance-related disorder		ISO	RGD:1342691	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8824667	Cadps2	calcium dependent secretion activator 2	gene	DOID:3275	thymoma		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8824667	Cadps2	calcium dependent secretion activator 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8824667	Cadps2	calcium dependent secretion activator 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8824667	Cadps2	calcium dependent secretion activator 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1342691	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8824667	Cadps2	calcium dependent secretion activator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824667	Cadps2	calcium dependent secretion activator 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8824667	Cadps2	calcium dependent secretion activator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8824667	Cadps2	calcium dependent secretion activator 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1342691	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
8824667	Cadps2	calcium dependent secretion activator 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8824667	Cadps2	calcium dependent secretion activator 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8824698	Top2b	DNA topoisomerase II beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8824698	Top2b	DNA topoisomerase II beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8824698	Top2b	DNA topoisomerase II beta	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1350637	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:28343847|PMID:28492532|PMID:33644862|PMID:36450898
8824698	Top2b	DNA topoisomerase II beta	gene	DOID:0060058	lymphoma		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8824698	Top2b	DNA topoisomerase II beta	gene	DOID:10534	stomach cancer		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824698	Top2b	DNA topoisomerase II beta	gene	DOID:1059	intellectual disability		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:31409799
8824698	Top2b	DNA topoisomerase II beta	gene	DOID:1115	sarcoma		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8824698	Top2b	DNA topoisomerase II beta	gene	DOID:1324	lung cancer		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8824698	Top2b	DNA topoisomerase II beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1350637	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8824698	Top2b	DNA topoisomerase II beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824698	Top2b	DNA topoisomerase II beta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8824698	Top2b	DNA topoisomerase II beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
8824698	Top2b	DNA topoisomerase II beta	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:1350637	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20601956
8824698	Top2b	DNA topoisomerase II beta	gene	DOID:8692	myeloid leukemia		ISO	RGD:1350637	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16932348
8824698	Top2b	DNA topoisomerase II beta	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350637	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: TOP2B-related neurodevelopmental disorder	PMID:25741868|PMID:28492532
8824698	Top2b	DNA topoisomerase II beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8824698	Top2b	DNA topoisomerase II beta	gene	DOID:9007742	B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations		ISO	RGD:1350637	D	RGD:7240710	20211110	OMIM			
8824698	Top2b	DNA topoisomerase II beta	gene	DOID:9007742	B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations		ISO	RGD:1350637	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: B-CELL IMMUNODEFICIENCY, DISTAL LIMB ANOMALIES, AND UROGENITAL MALFORMATIONS | ClinVar Annotator: match by term: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | ClinVar Annotator: match by term: TOP2B-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:31409799|PMID:609296|PMID:9536098
8824698	Top2b	DNA topoisomerase II beta	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532
8824737	Snorc	secondary ossification center associated regulator of chondrocyte maturation	gene	DOID:10534	stomach cancer		ISO	RGD:1606085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824737	Snorc	secondary ossification center associated regulator of chondrocyte maturation	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824750	Npas3	neuronal PAS domain protein 3	gene	DOID:1909	melanoma		ISO	RGD:1316218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8824750	Npas3	neuronal PAS domain protein 3	gene	DOID:3070	high grade glioma		ISO	RGD:1316218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8824750	Npas3	neuronal PAS domain protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8824750	Npas3	neuronal PAS domain protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316218	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8824750	Npas3	neuronal PAS domain protein 3	gene	DOID:5419	schizophrenia		ISO	RGD:1316218	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
8824750	Npas3	neuronal PAS domain protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824750	Npas3	neuronal PAS domain protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8824773	Ank3	ankyrin 3	gene	DOID:0050668	alcohol-related birth defects		ISO	RGD:1318779	D	RGD:9068941	20250306	RGD		DNA:SNP:CDS:rs7917190	PMID:29109170|REF_RGD_ID:597830079
8824773	Ank3	ankyrin 3	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:1318779	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29109170
8824773	Ank3	ankyrin 3	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
8824773	Ank3	ankyrin 3	gene	DOID:0050902	medulloblastoma		ISO	RGD:1318779	D	RGD:8554872	20230718	ClinVar		ClinVar Annotator: match by term: Classic medulloblastoma	
8824773	Ank3	ankyrin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8824773	Ank3	ankyrin 3	gene	DOID:0060058	lymphoma		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8824773	Ank3	ankyrin 3	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1318779	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868
8824773	Ank3	ankyrin 3	gene	DOID:0081202	autosomal recessive intellectual developmental disorder 37		ISO	RGD:1318779	D	RGD:7240710	20180130	OMIM			
8824773	Ank3	ankyrin 3	gene	DOID:0081202	autosomal recessive intellectual developmental disorder 37		ISO	RGD:1318779	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANK3-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 37 | ClinVar Annotator: match by term: Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 37	PMID:23390136|PMID:25741868|PMID:26539891|PMID:28492532|PMID:28687526|PMID:31451636|PMID:34218362|PMID:35794211|PMID:38177409|PMID:38988293
8824773	Ank3	ankyrin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8824773	Ank3	ankyrin 3	gene	DOID:1059	intellectual disability		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:38988293
8824773	Ank3	ankyrin 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8824773	Ank3	ankyrin 3	gene	DOID:1115	sarcoma		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8824773	Ank3	ankyrin 3	gene	DOID:12849	autistic disorder		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:34218362|PMID:38988293
8824773	Ank3	ankyrin 3	gene	DOID:1824	status epilepticus		ISO	RGD:1318779	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19306853
8824773	Ank3	ankyrin 3	gene	DOID:1824	status epilepticus		ISO	RGD:620157	D	RGD:9068941	20200609	RGD			PMID:19306853|REF_RGD_ID:6767290
8824773	Ank3	ankyrin 3	gene	DOID:1826	epilepsy		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:38988293
8824773	Ank3	ankyrin 3	gene	DOID:1909	melanoma		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8824773	Ank3	ankyrin 3	gene	DOID:2030	anxiety disorder		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
8824773	Ank3	ankyrin 3	gene	DOID:2055	post-traumatic stress disorder		ISO	RGD:1318779	D	RGD:9068941	20250306	RGD		DNA:SNP:multiple:multiple	PMID:23796624|REF_RGD_ID:597830075
8824773	Ank3	ankyrin 3	gene	DOID:3275	thymoma		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8824773	Ank3	ankyrin 3	gene	DOID:3312	bipolar disorder		ISO	RGD:1318779	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18711365|PMID:21926974|PMID:31043756
8824773	Ank3	ankyrin 3	gene	DOID:3312	bipolar disorder	susceptibility	ISO	RGD:1318779	D	RGD:9068941	20220901	RGD		DNS:SNPs:multiple:(human)	PMID:33729739|REF_RGD_ID:153344594
8824773	Ank3	ankyrin 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8824773	Ank3	ankyrin 3	gene	DOID:3911	progeria		ISO	RGD:1318779	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27217151
8824773	Ank3	ankyrin 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8824773	Ank3	ankyrin 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8824773	Ank3	ankyrin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1318779	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8824773	Ank3	ankyrin 3	gene	DOID:5419	schizophrenia		ISO	RGD:1318779	D	RGD:9068941	20220901	RGD		mRNA,protein:decreased expression:superior temporal gyrus	PMID:21893642|REF_RGD_ID:153344576
8824773	Ank3	ankyrin 3	gene	DOID:5419	schizophrenia	susceptibility	ISO	RGD:1318779	D	RGD:9068941	20220901	RGD		DNA:SNP: :rs9804190(human)	PMID:21893642|REF_RGD_ID:153344576
8824773	Ank3	ankyrin 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8824773	Ank3	ankyrin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824773	Ank3	ankyrin 3	gene	DOID:630	genetic disease		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26350204|PMID:28492532
8824773	Ank3	ankyrin 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8824773	Ank3	ankyrin 3	gene	DOID:9000998	Brain Injuries		ISO	RGD:620157	D	RGD:9068941	20200609	RGD			PMID:20557305|REF_RGD_ID:6767288
8824773	Ank3	ankyrin 3	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:1318779	D	RGD:9068941	20250306	RGD		associated with cleft lip|associated with fetal nicotine exposure; DNA:SNP: :rs3793861, rs7087489, rs4310561	PMID:31372216|REF_RGD_ID:597830081
8824773	Ank3	ankyrin 3	gene	DOID:9001234	Prenatal Exposure Delayed Effects	susceptibility	ISO	RGD:1318779	D	RGD:9068941	20220826	RGD		DNA:SNP: :  rs9804190(human)	PMID:27824361|REF_RGD_ID:153344561
8824773	Ank3	ankyrin 3	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:620157	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:neuron	PMID:10915577|REF_RGD_ID:6767305
8824773	Ank3	ankyrin 3	gene	DOID:9001733	Tinnitus		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	
8824773	Ank3	ankyrin 3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8824773	Ank3	ankyrin 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:38988293
8824773	Ank3	ankyrin 3	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1318779	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
8824773	Ank3	ankyrin 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	
8824773	Ank3	ankyrin 3	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1318779	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8824773	Ank3	ankyrin 3	gene	DOID:9006617	Fatigue		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	
8824773	Ank3	ankyrin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8824773	Ank3	ankyrin 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8824773	Ank3	ankyrin 3	gene	DOID:9008023	Memory Disorders		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
8824773	Ank3	ankyrin 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8824773	Ank3	ankyrin 3	gene	DOID:9008330	Serrated Polyposis		ISO	RGD:1318779	D	RGD:9068941	20220825	RGD		DNA:hypomethylation:exon,mucosa:	PMID:35447336|REF_RGD_ID:153344547
8824773	Ank3	ankyrin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8824773	Ank3	ankyrin 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8824857	Mdga1	MAM domain containing glycosylphosphatidylinositol anchor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824857	Mdga1	MAM domain containing glycosylphosphatidylinositol anchor 1	gene	DOID:1115	sarcoma		ISO	RGD:1315985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8824857	Mdga1	MAM domain containing glycosylphosphatidylinositol anchor 1	gene	DOID:3070	high grade glioma		ISO	RGD:1315985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8824857	Mdga1	MAM domain containing glycosylphosphatidylinositol anchor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8824857	Mdga1	MAM domain containing glycosylphosphatidylinositol anchor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824857	Mdga1	MAM domain containing glycosylphosphatidylinositol anchor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8824857	Mdga1	MAM domain containing glycosylphosphatidylinositol anchor 1	gene	DOID:8761	acute megakaryocytic leukemia		ISO	RGD:1315985	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Acute megakaryoblastic leukemia	
8824857	Mdga1	MAM domain containing glycosylphosphatidylinositol anchor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8824857	Mdga1	MAM domain containing glycosylphosphatidylinositol anchor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8824881	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8824881	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8824881	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1315745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824881	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8824881	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1315745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8824881	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1315745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8824881	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1315745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8824881	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1315745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8824881	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824881	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8824881	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8824881	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8824899	Cdc45	cell division cycle 45	gene	DOID:0060306	Meier-Gorlin syndrome		ISO	RGD:1352573	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8824899	Cdc45	cell division cycle 45	gene	DOID:0061011	craniosynostosis 3		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coronal craniosynostosis	PMID:28492532|PMID:34000999|PMID:38467731
8824899	Cdc45	cell division cycle 45	gene	DOID:0080518	Meier-Gorlin syndrome 7		ISO	RGD:1352573	D	RGD:7240710	20190424	OMIM			
8824899	Cdc45	cell division cycle 45	gene	DOID:0080518	Meier-Gorlin syndrome 7		ISO	RGD:1352573	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: CDC45-related condition | ClinVar Annotator: match by term: MEIER-GORLIN SYNDROME 7 | ClinVar Annotator: match by term: Meier-Gorlin syndrome 7	PMID:25741868|PMID:27374770|PMID:28492532|PMID:29036220|PMID:30986546|PMID:34000999|PMID:38467731
8824899	Cdc45	cell division cycle 45	gene	DOID:0080600	COVID-19		ISO	RGD:1352573	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8824899	Cdc45	cell division cycle 45	gene	DOID:0111996	immunodeficiency 51		ISO	RGD:1352573	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 51	PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532
8824899	Cdc45	cell division cycle 45	gene	DOID:10348	blepharophimosis		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:28492532|PMID:34000999|PMID:38467731
8824899	Cdc45	cell division cycle 45	gene	DOID:10534	stomach cancer		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824899	Cdc45	cell division cycle 45	gene	DOID:10907	microcephaly		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:34000999|PMID:38467731
8824899	Cdc45	cell division cycle 45	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8824899	Cdc45	cell division cycle 45	gene	DOID:1324	lung cancer		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8824899	Cdc45	cell division cycle 45	gene	DOID:13316	exocrine pancreatic insufficiency		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exocrine pancreatic insufficiency	PMID:28492532|PMID:34000999|PMID:38467731
8824899	Cdc45	cell division cycle 45	gene	DOID:1909	melanoma		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8824899	Cdc45	cell division cycle 45	gene	DOID:3275	thymoma		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8824899	Cdc45	cell division cycle 45	gene	DOID:4362	cervical cancer		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8824899	Cdc45	cell division cycle 45	gene	DOID:4674	androgen insensitivity syndrome		ISO	RGD:1352573	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: DHTR DEFICIENCY	PMID:28492532
8824899	Cdc45	cell division cycle 45	gene	DOID:5041	esophageal cancer		ISO	RGD:1352573	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8824899	Cdc45	cell division cycle 45	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824899	Cdc45	cell division cycle 45	gene	DOID:630	genetic disease		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:34000999|PMID:38467731
8824899	Cdc45	cell division cycle 45	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8824899	Cdc45	cell division cycle 45	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532|PMID:34000999|PMID:38467731
8824899	Cdc45	cell division cycle 45	gene	DOID:9003555	Androgen Insensitivity Syndrome due to Coactivator Deficiency		ISO	RGD:1352573	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency	PMID:28492532
8824899	Cdc45	cell division cycle 45	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8824899	Cdc45	cell division cycle 45	gene	DOID:9007661	Dwarfism		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532|PMID:34000999|PMID:38467731
8824899	Cdc45	cell division cycle 45	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532|PMID:34000999|PMID:38467731
8824899	Cdc45	cell division cycle 45	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8824899	Cdc45	cell division cycle 45	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8824914	Slx1a	structure-specific endonuclease subunit SLX1A	gene	DOID:0090066	Fanconi-like syndrome		ISO	RGD:1551164	D	RGD:9068941	20220825	MouseDO		OMIM:227850	
8824923	S100p	S100 calcium binding protein P	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1344746	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8824923	S100p	S100 calcium binding protein P	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1344746	D	RGD:9068941	20201218	CTD		CTD Direct Evidence: marker/mechanism	PMID:31066245
8824938	Ak5	adenylate kinase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8824938	Ak5	adenylate kinase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1353587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824938	Ak5	adenylate kinase 5	gene	DOID:1324	lung cancer		ISO	RGD:1353587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8824938	Ak5	adenylate kinase 5	gene	DOID:1909	melanoma		ISO	RGD:1353587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8824938	Ak5	adenylate kinase 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8824938	Ak5	adenylate kinase 5	gene	DOID:670	amphetamine abuse		ISO	RGD:1353587	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
8824938	Ak5	adenylate kinase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8824956	Clcc1	chloride channel CLIC like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8824956	Clcc1	chloride channel CLIC like 1	gene	DOID:0110355	retinitis pigmentosa 32		ISO	RGD:1604384	D	RGD:7240710	20200722	OMIM			
8824956	Clcc1	chloride channel CLIC like 1	gene	DOID:0110355	retinitis pigmentosa 32		ISO	RGD:1604384	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 32	PMID:16189710|PMID:25741868|PMID:28492532|PMID:30157172
8824956	Clcc1	chloride channel CLIC like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824956	Clcc1	chloride channel CLIC like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824956	Clcc1	chloride channel CLIC like 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1604384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
8824987	Sumo2	small ubiquitin like modifier 2	gene	DOID:3070	high grade glioma		ISO	RGD:1346569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8824987	Sumo2	small ubiquitin like modifier 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824987	Sumo2	small ubiquitin like modifier 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8824987	Sumo2	small ubiquitin like modifier 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8824995	Plcd3	phospholipase C delta 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8824995	Plcd3	phospholipase C delta 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8824995	Plcd3	phospholipase C delta 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8824995	Plcd3	phospholipase C delta 3	gene	DOID:1324	lung cancer		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8824995	Plcd3	phospholipase C delta 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8824995	Plcd3	phospholipase C delta 3	gene	DOID:4362	cervical cancer		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8824995	Plcd3	phospholipase C delta 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1322076	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8824995	Plcd3	phospholipase C delta 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8824995	Plcd3	phospholipase C delta 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8824995	Plcd3	phospholipase C delta 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8825018	Cacng3	calcium voltage-gated channel auxiliary subunit gamma 3	gene	DOID:1825	childhood absence epilepsy		ISO	RGD:736548	D	RGD:9068941	20200609	RGD			PMID:11904235|REF_RGD_ID:728397
8825018	Cacng3	calcium voltage-gated channel auxiliary subunit gamma 3	gene	DOID:4448	macular degeneration	susceptibility	ISO	RGD:736548	D	RGD:9068941	20200609	RGD		DNA:SNPs: :	PMID:21169531|REF_RGD_ID:13524556
8825029	Slc27a4	solute carrier family 27 member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8825029	Slc27a4	solute carrier family 27 member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8825029	Slc27a4	solute carrier family 27 member 4	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Lamellar ichthyosis	PMID:19631310|PMID:21450060|PMID:22927265|PMID:25741868|PMID:26783444|PMID:27025581|PMID:28492532
8825029	Slc27a4	solute carrier family 27 member 4	gene	DOID:0060762	restrictive dermopathy		ISO	RGD:1316552	D	RGD:9068941	20220825	MouseDO		OMIM:275210	
8825029	Slc27a4	solute carrier family 27 member 4	gene	DOID:10892	hypospadias		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:14985385|PMID:25741868
8825029	Slc27a4	solute carrier family 27 member 4	gene	DOID:1115	sarcoma		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8825029	Slc27a4	solute carrier family 27 member 4	gene	DOID:1324	lung cancer		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8825029	Slc27a4	solute carrier family 27 member 4	gene	DOID:3275	thymoma		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8825029	Slc27a4	solute carrier family 27 member 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1316551	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8825029	Slc27a4	solute carrier family 27 member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825029	Slc27a4	solute carrier family 27 member 4	gene	DOID:630	genetic disease		ISO	RGD:1316551	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:19631310|PMID:21450060|PMID:25741868|PMID:28492532
8825029	Slc27a4	solute carrier family 27 member 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8825029	Slc27a4	solute carrier family 27 member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8825029	Slc27a4	solute carrier family 27 member 4	gene	DOID:9001309	Ichthyosis Prematurity Syndrome		ISO	RGD:1316551	D	RGD:7240710	20180130	OMIM			
8825029	Slc27a4	solute carrier family 27 member 4	gene	DOID:9001309	Ichthyosis Prematurity Syndrome		ISO	RGD:1316551	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ICHTHYOSIS PREMATURITY SYNDROME | ClinVar Annotator: match by term: Ichthyosis congenita IV | ClinVar Annotator: match by term: Ichthyosis prematurity syndrome | ClinVar Annotator: match by term: SLC27A4-related condition	PMID:19631310|PMID:21450060|PMID:21856041|PMID:22927265|PMID:25741868|PMID:26783444|PMID:27025581|PMID:27168232|PMID:27224495|PMID:28492532|PMID:30077338|PMID:30536735|PMID:31595490|PMID:31681265|PMID:33935161
8825029	Slc27a4	solute carrier family 27 member 4	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1316551	D	RGD:9068941	20200609	RGD		mRNA:increased expression:subcutaneous adipose tissue	PMID:15168018|REF_RGD_ID:1625638
8825029	Slc27a4	solute carrier family 27 member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8825029	Slc27a4	solute carrier family 27 member 4	gene	DOID:9452	steatotic liver disease		ISO	RGD:1307383	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression	PMID:16248953|REF_RGD_ID:1625640
8825029	Slc27a4	solute carrier family 27 member 4	gene	DOID:9834	hyperopia		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
8825029	Slc27a4	solute carrier family 27 member 4	gene	DOID:9970	obesity		ISO	RGD:1316551	D	RGD:9068941	20200609	RGD		mRNA:increased expression:subcutaneous adipose tissue	PMID:15168018|REF_RGD_ID:1625638
8825045	Ecsit	ECSIT signaling integrator	gene	DOID:4362	cervical cancer		ISO	RGD:1602709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8825045	Ecsit	ECSIT signaling integrator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825045	Ecsit	ECSIT signaling integrator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8825045	Ecsit	ECSIT signaling integrator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrioventricular canal defect	PMID:25741868
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1603322	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1603322	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20062060
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:0111682	cystic renal dysplasia		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cystic renal dysplasia	
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:1059	intellectual disability		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:31578471
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:10907	microcephaly		ISO	RGD:1603322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:31578471|PMID:33296143|PMID:33767182
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:11111	hydronephrosis		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:11119	Gilles de la Tourette syndrome		ISO	RGD:1603322	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Tourette syndrome	
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:1115	sarcoma		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:11758	iron deficiency anemia		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iron deficiency anemia	PMID:25741868
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:11782	astigmatism		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:12849	autistic disorder		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:12859	choreatic disease		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paroxysmal dyskinesia	PMID:25741868
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:1324	lung cancer		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:13580	cholestasis		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:1826	epilepsy		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:31578471
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:1827	generalized epilepsy		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:2234	focal epilepsy		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:3070	high grade glioma		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:3275	thymoma		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:4362	cervical cancer		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:540	strabismus		ISO	RGD:1603322	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:630	genetic disease		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:37393044
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:9001581	Constipation		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:9002383	Lamb-Shaffer Syndrome		ISO	RGD:1603322	D	RGD:7240710	20190315	OMIM			
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:9002383	Lamb-Shaffer Syndrome		ISO	RGD:1603322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LAMB-SHAFFER SYNDROME | ClinVar Annotator: match by term: Lamb-Shaffer syndrome | ClinVar Annotator: match by term: Lamb-shaffer syndrome | ClinVar Annotator: match by term: SOX5-related condition	PMID:22290657|PMID:25741868|PMID:26111154|PMID:28492532|PMID:29214085|PMID:31578471|PMID:33296143|PMID:33767182|PMID:34365620|PMID:36759900|PMID:36861937
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:9002997	Glossoptosis		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glossoptosis	PMID:25741868
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:9005335	Cerebral Visual Impairment and Intellectual Disability		ISO	RGD:1603322	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability	PMID:26350515
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:31578471|PMID:33296143|PMID:33767182
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:9006697	Congenital Hepatic Fibrosis		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hepatic fibrosis	
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:9007573	Flatfoot		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:9007595	Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome		ISO	RGD:1603322	D	RGD:9068941	20260212	RGD		DNA:SNPs:intron:rs59569785, rs16926459	PMID:24876173|REF_RGD_ID:632518374
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:9007661	Dwarfism		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:31578471
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:31578471|PMID:33296143|PMID:33767182
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:9008582	Developmental Disease		ISO	RGD:1603322	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:9834	hyperopia		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
8825057	Sox5	SRY-box transcription factor 5	gene	DOID:9970	obesity		ISO	RGD:1603322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
8825113	Olfm1	olfactomedin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8825113	Olfm1	olfactomedin 1	gene	DOID:1115	sarcoma		ISO	RGD:733478	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8825113	Olfm1	olfactomedin 1	gene	DOID:3275	thymoma		ISO	RGD:733478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8825113	Olfm1	olfactomedin 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733478	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208208
8825113	Olfm1	olfactomedin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8825113	Olfm1	olfactomedin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8825130	Epdr1	ependymin related 1	gene	DOID:1324	lung cancer		ISO	RGD:1343278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	
8825130	Epdr1	ependymin related 1	gene	DOID:13550	angle-closure glaucoma		ISO	RGD:1343278	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27064256
8825130	Epdr1	ependymin related 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8825151	Phpt1	phosphohistidine phosphatase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8825151	Phpt1	phosphohistidine phosphatase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8825151	Phpt1	phosphohistidine phosphatase 1	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1322769	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
8825151	Phpt1	phosphohistidine phosphatase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8825151	Phpt1	phosphohistidine phosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825151	Phpt1	phosphohistidine phosphatase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8825151	Phpt1	phosphohistidine phosphatase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8825158	Mapk1ip1l	mitogen-activated protein kinase 1 interacting protein 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8825158	Mapk1ip1l	mitogen-activated protein kinase 1 interacting protein 1 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1322925	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8825158	Mapk1ip1l	mitogen-activated protein kinase 1 interacting protein 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825158	Mapk1ip1l	mitogen-activated protein kinase 1 interacting protein 1 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8825158	Mapk1ip1l	mitogen-activated protein kinase 1 interacting protein 1 like	gene	DOID:9256	colorectal cancer		ISO	RGD:1322925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8825168	Emilin3	elastin microfibril interfacer 3	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1320036	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
8825168	Emilin3	elastin microfibril interfacer 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8825168	Emilin3	elastin microfibril interfacer 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8825194	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8825194	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8825194	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
8825194	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8825194	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:1324	lung cancer		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8825194	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:1909	melanoma		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8825194	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1323023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8825194	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8825194	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8825194	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825194	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8825194	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1323023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8825194	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8825194	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8825216	Wdfy2	WD repeat and FYVE domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1316474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8825216	Wdfy2	WD repeat and FYVE domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1316474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8825216	Wdfy2	WD repeat and FYVE domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1316474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8825216	Wdfy2	WD repeat and FYVE domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825216	Wdfy2	WD repeat and FYVE domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8825251	Parp6	poly(ADP-ribose) polymerase family member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8825251	Parp6	poly(ADP-ribose) polymerase family member 6	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1344996	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	
8825251	Parp6	poly(ADP-ribose) polymerase family member 6	gene	DOID:1115	sarcoma		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8825251	Parp6	poly(ADP-ribose) polymerase family member 6	gene	DOID:1324	lung cancer		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8825251	Parp6	poly(ADP-ribose) polymerase family member 6	gene	DOID:1909	melanoma		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8825251	Parp6	poly(ADP-ribose) polymerase family member 6	gene	DOID:3275	thymoma		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8825251	Parp6	poly(ADP-ribose) polymerase family member 6	gene	DOID:4362	cervical cancer		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8825251	Parp6	poly(ADP-ribose) polymerase family member 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8825251	Parp6	poly(ADP-ribose) polymerase family member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1344996	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8825251	Parp6	poly(ADP-ribose) polymerase family member 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8825251	Parp6	poly(ADP-ribose) polymerase family member 6	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8825251	Parp6	poly(ADP-ribose) polymerase family member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825251	Parp6	poly(ADP-ribose) polymerase family member 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8825251	Parp6	poly(ADP-ribose) polymerase family member 6	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8825251	Parp6	poly(ADP-ribose) polymerase family member 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344996	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:34067418
8825251	Parp6	poly(ADP-ribose) polymerase family member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8825251	Parp6	poly(ADP-ribose) polymerase family member 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8825299	Sipa1	signal-induced proliferation-associated 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8825299	Sipa1	signal-induced proliferation-associated 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8825299	Sipa1	signal-induced proliferation-associated 1	gene	DOID:10485	esophageal atresia		ISO	RGD:1346963	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
8825299	Sipa1	signal-induced proliferation-associated 1	gene	DOID:1115	sarcoma		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8825299	Sipa1	signal-induced proliferation-associated 1	gene	DOID:1909	melanoma		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8825299	Sipa1	signal-induced proliferation-associated 1	gene	DOID:3275	thymoma		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8825299	Sipa1	signal-induced proliferation-associated 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8825299	Sipa1	signal-induced proliferation-associated 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8825299	Sipa1	signal-induced proliferation-associated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825299	Sipa1	signal-induced proliferation-associated 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8825299	Sipa1	signal-induced proliferation-associated 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8825299	Sipa1	signal-induced proliferation-associated 1	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1553084	D	RGD:9068941	20220825	MouseDO		OMIM:608232	
8825299	Sipa1	signal-induced proliferation-associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8825299	Sipa1	signal-induced proliferation-associated 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8825299	Sipa1	signal-induced proliferation-associated 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8825299	Sipa1	signal-induced proliferation-associated 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8825322	Alg10	ALG10 alpha-1,2-glucosyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8825322	Alg10	ALG10 alpha-1,2-glucosyltransferase	gene	DOID:0080470	developmental and epileptic encephalopathy 36		ISO	RGD:1345350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36	PMID:25741868
8825322	Alg10	ALG10 alpha-1,2-glucosyltransferase	gene	DOID:0080564	congenital disorder of glycosylation Il		ISO	RGD:1345350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation	PMID:25741868
8825322	Alg10	ALG10 alpha-1,2-glucosyltransferase	gene	DOID:0110645	long QT syndrome 2		ISO	RGD:1345350	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 2	
8825322	Alg10	ALG10 alpha-1,2-glucosyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1345350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8825322	Alg10	ALG10 alpha-1,2-glucosyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1345350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8825322	Alg10	ALG10 alpha-1,2-glucosyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1345350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8825322	Alg10	ALG10 alpha-1,2-glucosyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:0050840	cervical dystonia		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1348608	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorders	PMID:25363768|PMID:25741868|PMID:28191889|PMID:30504930
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:0060249	scoliosis		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:0060321	umbilical hernia		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:0061011	craniosynostosis 3		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coronal craniosynostosis	PMID:25741868
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:0080174	bladder exstrophy		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder exstrophy	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:0080232	autosomal dominant intellectual developmental disorder 51		ISO	RGD:1348608	D	RGD:7240710	20190315	OMIM			
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:0080232	autosomal dominant intellectual developmental disorder 51		ISO	RGD:1348608	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 51 | ClinVar Annotator: match by term: KMT5B-related condition | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29276005
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:0080833	laryngomalacia		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:10534	stomach cancer		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:1059	intellectual disability		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25363768|PMID:25741868|PMID:27854360|PMID:28191889
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:10907	microcephaly		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:11111	hydronephrosis		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:12638	hypertrophic pyloric stenosis		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypertrophic pyloric stenosis	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:12849	autistic disorder		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25363768|PMID:25741868|PMID:27854360|PMID:28191889
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:1657	ventricular septal defect		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:1826	epilepsy		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:1923	disorder of sexual development		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:2340	craniosynostosis		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metopic synostosis	PMID:25741868
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:2841	asthma		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:5041	esophageal cancer		ISO	RGD:1348608	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:540	strabismus		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:5419	schizophrenia		ISO	RGD:1348608	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:630	genetic disease		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:8927	learning disability		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:9000727	Syncope		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:9001581	Constipation		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type I malformation	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:9003133	Hypertelorism		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:9003816	Macrocephaly		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly | ClinVar Annotator: match by term: Megalencephaly	PMID:25363768|PMID:27854360|PMID:28191889
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348608	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:9005077	Joint Instability		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1348608	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Language retardation	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:9007661	Dwarfism		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:9007817	Macroglossia		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:25741868
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:9007917	Supernumerary Tooth		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Teeth, supernumerary	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348608	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:9008957	Urachal Cyst		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urachal cyst	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	
8825360	Kmt5b	lysine methyltransferase 5B	gene	DOID:9840	esotropia		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
8825383	Radil	Rap associating with DIL domain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8825383	Radil	Rap associating with DIL domain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8825383	Radil	Rap associating with DIL domain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8825383	Radil	Rap associating with DIL domain	gene	DOID:1115	sarcoma		ISO	RGD:1604337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8825383	Radil	Rap associating with DIL domain	gene	DOID:1324	lung cancer		ISO	RGD:1604337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8825383	Radil	Rap associating with DIL domain	gene	DOID:1909	melanoma		ISO	RGD:1604337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8825383	Radil	Rap associating with DIL domain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8825383	Radil	Rap associating with DIL domain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8825405	Speg	striated muscle enriched protein kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8825405	Speg	striated muscle enriched protein kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8825405	Speg	striated muscle enriched protein kinase	gene	DOID:0111216	autosomal recessive centronuclear myopathy		ISO	RGD:734132	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8825405	Speg	striated muscle enriched protein kinase	gene	DOID:0111222	centronuclear myopathy 5		ISO	RGD:734132	D	RGD:7240710	20180130	OMIM			
8825405	Speg	striated muscle enriched protein kinase	gene	DOID:0111222	centronuclear myopathy 5		ISO	RGD:734132	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CENTRONUCLEAR MYOPATHY 5 | ClinVar Annotator: match by term: Myopathy, centronuclear, 5 | ClinVar Annotator: match by term: SPEG-related condition | ClinVar Annotator: match by term: SPEG-related congenital myopathy	PMID:16199547|PMID:19118250|PMID:25087613|PMID:25741868|PMID:28492532|PMID:29614691
8825405	Speg	striated muscle enriched protein kinase	gene	DOID:10534	stomach cancer		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8825405	Speg	striated muscle enriched protein kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8825405	Speg	striated muscle enriched protein kinase	gene	DOID:1115	sarcoma		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8825405	Speg	striated muscle enriched protein kinase	gene	DOID:1909	melanoma		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8825405	Speg	striated muscle enriched protein kinase	gene	DOID:3070	high grade glioma		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8825405	Speg	striated muscle enriched protein kinase	gene	DOID:3275	thymoma		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8825405	Speg	striated muscle enriched protein kinase	gene	DOID:4362	cervical cancer		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8825405	Speg	striated muscle enriched protein kinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8825405	Speg	striated muscle enriched protein kinase	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:734132	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
8825405	Speg	striated muscle enriched protein kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:25741868
8825405	Speg	striated muscle enriched protein kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825405	Speg	striated muscle enriched protein kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8825405	Speg	striated muscle enriched protein kinase	gene	DOID:630	genetic disease		ISO	RGD:734132	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8825405	Speg	striated muscle enriched protein kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8825405	Speg	striated muscle enriched protein kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8825460	Tmem50a	transmembrane protein 50A	gene	DOID:10534	stomach cancer		ISO	RGD:1606813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8825460	Tmem50a	transmembrane protein 50A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8825460	Tmem50a	transmembrane protein 50A	gene	DOID:1324	lung cancer		ISO	RGD:1606813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8825460	Tmem50a	transmembrane protein 50A	gene	DOID:3275	thymoma		ISO	RGD:1606813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8825460	Tmem50a	transmembrane protein 50A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825460	Tmem50a	transmembrane protein 50A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8825460	Tmem50a	transmembrane protein 50A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:0050840	cervical dystonia		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:0060308	autosomal recessive intellectual developmental disorder		ISO	RGD:1606546	D	RGD:8554872	20260721	ClinVar		ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability	PMID:25066123|PMID:25741868
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:0060340	ciliopathy		ISO	RGD:1606546	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Ciliopathy	PMID:25741868|PMID:32461654|PMID:39168639
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Smith-Magenis Syndrome-like	PMID:25741868|PMID:27799067|PMID:28492532
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:0080833	laryngomalacia		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:0081179	autosomal recessive intellectual developmental disorder 3		ISO	RGD:1606546	D	RGD:7240710	20180130	OMIM			
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:0081179	autosomal recessive intellectual developmental disorder 3		ISO	RGD:1606546	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CC2D1A-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 3	PMID:16033914|PMID:16199547|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:1059	intellectual disability		ISO	RGD:1606546	D	RGD:8554872	20260721	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:1115	sarcoma		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:1324	lung cancer		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:1826	epilepsy		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:1891	optic nerve disease		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:1969	cerebral palsy		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:32581362
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:2234	focal epilepsy		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:540	strabismus		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:630	genetic disease		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16033914|PMID:16199547|PMID:25741868|PMID:28492532|PMID:28518168|PMID:31031587|PMID:31980526|PMID:32461654
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:6364	migraine		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:9001031	Retrognathia		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:25741868
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:9007661	Dwarfism		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8825473	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8825508	Tln1	talin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8825508	Tln1	talin 1	gene	DOID:0050731	vitamin B12 deficiency		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cobalamin deficiency	PMID:25741868
8825508	Tln1	talin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8825508	Tln1	talin 1	gene	DOID:0060058	lymphoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8825508	Tln1	talin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8825508	Tln1	talin 1	gene	DOID:1059	intellectual disability		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868
8825508	Tln1	talin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8825508	Tln1	talin 1	gene	DOID:1115	sarcoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8825508	Tln1	talin 1	gene	DOID:11476	osteoporosis		ISO	RGD:1314756	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
8825508	Tln1	talin 1	gene	DOID:13382	megaloblastic anemia		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megaloblastic anemia	PMID:25741868
8825508	Tln1	talin 1	gene	DOID:14400	capillary leak syndrome		ISO	RGD:1314756	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Capillary leak syndrome	PMID:25741868
8825508	Tln1	talin 1	gene	DOID:1909	melanoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8825508	Tln1	talin 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
8825508	Tln1	talin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8825508	Tln1	talin 1	gene	DOID:3275	thymoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8825508	Tln1	talin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8825508	Tln1	talin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8825508	Tln1	talin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314756	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8825508	Tln1	talin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8825508	Tln1	talin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825508	Tln1	talin 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8825508	Tln1	talin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8825508	Tln1	talin 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8825508	Tln1	talin 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1314756	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21291860
8825508	Tln1	talin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8825508	Tln1	talin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8825508	Tln1	talin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8825582	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8825582	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8825582	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8825582	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1320925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8825582	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1320925	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17599052
8825582	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8825582	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8825582	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320925	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8825582	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8825582	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320925	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8825582	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1320925	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17303177
8825582	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8825582	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1320925	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17599052
8825582	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8825582	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8825593	Dalrd3	DALR anticodon binding domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8825593	Dalrd3	DALR anticodon binding domain containing 3	gene	DOID:0112220	developmental and epileptic encephalopathy 86		ISO	RGD:1352602	D	RGD:7240710	20200701	OMIM			
8825593	Dalrd3	DALR anticodon binding domain containing 3	gene	DOID:0112220	developmental and epileptic encephalopathy 86		ISO	RGD:1352602	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 86	PMID:25741868
8825593	Dalrd3	DALR anticodon binding domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8825593	Dalrd3	DALR anticodon binding domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1352602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8825593	Dalrd3	DALR anticodon binding domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1352602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8825593	Dalrd3	DALR anticodon binding domain containing 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8825593	Dalrd3	DALR anticodon binding domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825593	Dalrd3	DALR anticodon binding domain containing 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8825593	Dalrd3	DALR anticodon binding domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8825593	Dalrd3	DALR anticodon binding domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8825617	Znf142	zinc finger protein 142	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8825617	Znf142	zinc finger protein 142	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8825617	Znf142	zinc finger protein 142	gene	DOID:1059	intellectual disability		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:31036918
8825617	Znf142	zinc finger protein 142	gene	DOID:3275	thymoma		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8825617	Znf142	zinc finger protein 142	gene	DOID:4362	cervical cancer		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8825617	Znf142	zinc finger protein 142	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1320100	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
8825617	Znf142	zinc finger protein 142	gene	DOID:5041	esophageal cancer		ISO	RGD:1320100	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8825617	Znf142	zinc finger protein 142	gene	DOID:543	dystonia		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:31036918
8825617	Znf142	zinc finger protein 142	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825617	Znf142	zinc finger protein 142	gene	DOID:630	genetic disease		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:30389958|PMID:31345219|PMID:34826259|PMID:35616059|PMID:35618198
8825617	Znf142	zinc finger protein 142	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8825617	Znf142	zinc finger protein 142	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized tonic-clonic seizures	PMID:25741868|PMID:31036918
8825617	Znf142	zinc finger protein 142	gene	DOID:9000239	Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements		ISO	RGD:1320100	D	RGD:7240710	20190612	OMIM			
8825617	Znf142	zinc finger protein 142	gene	DOID:9000239	Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements		ISO	RGD:1320100	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS | ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired speech and hyperkinetic movements | ClinVar Annotator: match by term: ZNF142-related condition | ClinVar Annotator: match by term: neurodevelopmental disorder with impaired speech and hyperkinetic movements	PMID:25741868|PMID:27066578|PMID:30389958|PMID:31036918|PMID:31345219|PMID:34826259|PMID:35616059|PMID:35618198|PMID:38026511
8825617	Znf142	zinc finger protein 142	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8825617	Znf142	zinc finger protein 142	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8825617	Znf142	zinc finger protein 142	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:31036918
8825644	Slc9a9	solute carrier family 9 member A9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8825644	Slc9a9	solute carrier family 9 member A9	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314948	D	RGD:9068941	20220825	MouseDO			
8825644	Slc9a9	solute carrier family 9 member A9	gene	DOID:0060058	lymphoma		ISO	RGD:1314947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8825644	Slc9a9	solute carrier family 9 member A9	gene	DOID:10534	stomach cancer		ISO	RGD:1314947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8825644	Slc9a9	solute carrier family 9 member A9	gene	DOID:1115	sarcoma		ISO	RGD:1314947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8825644	Slc9a9	solute carrier family 9 member A9	gene	DOID:12849	autistic disorder		ISO	RGD:1314947	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism, susceptibility to, 16 | ClinVar Annotator: match by term: SLC9A9-related condition	PMID:18621663|PMID:25741868|PMID:28492532
8825644	Slc9a9	solute carrier family 9 member A9	gene	DOID:12849	autistic disorder	susceptibility	ISO	RGD:1314947	D	RGD:7240710	20190502	OMIM			
8825644	Slc9a9	solute carrier family 9 member A9	gene	DOID:1324	lung cancer		ISO	RGD:1314947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8825644	Slc9a9	solute carrier family 9 member A9	gene	DOID:3275	thymoma		ISO	RGD:1314947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8825644	Slc9a9	solute carrier family 9 member A9	gene	DOID:4362	cervical cancer		ISO	RGD:1314947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8825644	Slc9a9	solute carrier family 9 member A9	gene	DOID:5041	esophageal cancer		ISO	RGD:1314947	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8825644	Slc9a9	solute carrier family 9 member A9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825644	Slc9a9	solute carrier family 9 member A9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8825644	Slc9a9	solute carrier family 9 member A9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8825644	Slc9a9	solute carrier family 9 member A9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8825644	Slc9a9	solute carrier family 9 member A9	gene	DOID:9256	colorectal cancer		ISO	RGD:1314947	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8825671	Aqp5	aquaporin 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:70371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8825671	Aqp5	aquaporin 5	gene	DOID:0111707	Bothnian type palmoplantar keratoderma		ISO	RGD:70371	D	RGD:7240710	20180130	OMIM			
8825671	Aqp5	aquaporin 5	gene	DOID:0111707	Bothnian type palmoplantar keratoderma		ISO	RGD:70371	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE | ClinVar Annotator: match by term: Palmoplantar keratoderma, Bothnian type	PMID:23830519|PMID:25741868|PMID:27255181|PMID:28492532|PMID:34298581
8825671	Aqp5	aquaporin 5	gene	DOID:10140	dry eye syndrome		ISO	RGD:10184	D	RGD:9068941	20220825	MouseDO			
8825671	Aqp5	aquaporin 5	gene	DOID:11155	hypohidrosis		ISO	RGD:10184	D	RGD:9068941	20200609	RGD			PMID:11773623|REF_RGD_ID:70240
8825671	Aqp5	aquaporin 5	gene	DOID:1324	lung cancer		ISO	RGD:70371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8825671	Aqp5	aquaporin 5	gene	DOID:2316	brain ischemia		ISO	RGD:2144	D	RGD:9068941	20200609	RGD			PMID:19616516|REF_RGD_ID:5490152
8825671	Aqp5	aquaporin 5	gene	DOID:5041	esophageal cancer		ISO	RGD:70371	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8825671	Aqp5	aquaporin 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:70371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825671	Aqp5	aquaporin 5	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:2144	D	RGD:9068941	20200609	RGD		associated with Disseminated Intravascular Coagulation;mRNA,protein:decreased expression:lung:	PMID:24806323|REF_RGD_ID:11553933
8825671	Aqp5	aquaporin 5	gene	DOID:9005149	Ovary Reperfusion Injury	treatment	ISO	RGD:2144	D	RGD:9068941	20260718	RGD			PMID:38453769|REF_RGD_ID:736797808
8825671	Aqp5	aquaporin 5	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:70371	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17245593|PMID:17270560
8825690	Sgsm2	small G protein signaling modulator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8825690	Sgsm2	small G protein signaling modulator 2	gene	DOID:10283	prostate cancer		ISO	RGD:1315867	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
8825690	Sgsm2	small G protein signaling modulator 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8825690	Sgsm2	small G protein signaling modulator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8825690	Sgsm2	small G protein signaling modulator 2	gene	DOID:1115	sarcoma		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8825690	Sgsm2	small G protein signaling modulator 2	gene	DOID:1324	lung cancer		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8825690	Sgsm2	small G protein signaling modulator 2	gene	DOID:1909	melanoma		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8825690	Sgsm2	small G protein signaling modulator 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8825690	Sgsm2	small G protein signaling modulator 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315867	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8825690	Sgsm2	small G protein signaling modulator 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8825690	Sgsm2	small G protein signaling modulator 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315867	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8825690	Sgsm2	small G protein signaling modulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825690	Sgsm2	small G protein signaling modulator 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8825690	Sgsm2	small G protein signaling modulator 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8825690	Sgsm2	small G protein signaling modulator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8825690	Sgsm2	small G protein signaling modulator 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8825728	Taldo1	transaldolase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532|PMID:31769880
8825728	Taldo1	transaldolase 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:733188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:25741868
8825728	Taldo1	transaldolase 1	gene	DOID:10534	stomach cancer		ISO	RGD:733188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532|PMID:31769880
8825728	Taldo1	transaldolase 1	gene	DOID:1115	sarcoma		ISO	RGD:733188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532|PMID:31769880
8825728	Taldo1	transaldolase 1	gene	DOID:1324	lung cancer		ISO	RGD:733188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532|PMID:31769880
8825728	Taldo1	transaldolase 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:733188	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23233872
8825728	Taldo1	transaldolase 1	gene	DOID:1682	congenital heart disease		ISO	RGD:733188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868
8825728	Taldo1	transaldolase 1	gene	DOID:1909	melanoma		ISO	RGD:733188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532|PMID:31769880
8825728	Taldo1	transaldolase 1	gene	DOID:1924	hypogonadism		ISO	RGD:733188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypergonadotropic hypogonadism	
8825728	Taldo1	transaldolase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532|PMID:31769880
8825728	Taldo1	transaldolase 1	gene	DOID:2978	carbohydrate metabolic disorder		ISO	RGD:733188	D	RGD:9068941	20200609	RGD		Transaldolase deficiency, OMIM:606003	PMID:11283793|REF_RGD_ID:1599293
8825728	Taldo1	transaldolase 1	gene	DOID:3275	thymoma		ISO	RGD:733188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532|PMID:31769880
8825728	Taldo1	transaldolase 1	gene	DOID:4362	cervical cancer		ISO	RGD:733188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532|PMID:31769880
8825728	Taldo1	transaldolase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532|PMID:31769880
8825728	Taldo1	transaldolase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733188	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532|PMID:31769880
8825728	Taldo1	transaldolase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532|PMID:31769880
8825728	Taldo1	transaldolase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532|PMID:31769880
8825728	Taldo1	transaldolase 1	gene	DOID:630	genetic disease		ISO	RGD:733188	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8825728	Taldo1	transaldolase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532|PMID:31769880
8825728	Taldo1	transaldolase 1	gene	DOID:83	cataract		ISO	RGD:733188	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868|PMID:28492532
8825728	Taldo1	transaldolase 1	gene	DOID:9000356	Transaldolase Deficiency		ISO	RGD:733188	D	RGD:7240710	20180130	OMIM			
8825728	Taldo1	transaldolase 1	gene	DOID:9000356	Transaldolase Deficiency		ISO	RGD:733188	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TALDO1-related condition | ClinVar Annotator: match by term: TRANSALDOLASE DEFICIENCY | ClinVar Annotator: match by term: Transaldolase deficiency | ClinVar Annotator: match by term: transaldolase deficiency	PMID:15877206|PMID:18331807|PMID:23315216|PMID:24497183|PMID:25388407|PMID:25741868|PMID:28492532|PMID:29292491
8825728	Taldo1	transaldolase 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:733188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532|PMID:31769880
8825728	Taldo1	transaldolase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16199547|PMID:23315216|PMID:25741868|PMID:26238251|PMID:28492532|PMID:31769880
8825728	Taldo1	transaldolase 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:733188	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19436114
8825728	Taldo1	transaldolase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532|PMID:31769880
8825728	Taldo1	transaldolase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:733188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532|PMID:31769880
8825740	F10	coagulation factor X	gene	DOID:0060903	thrombosis		ISO	RGD:1342967	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1279834
8825740	F10	coagulation factor X	gene	DOID:1227	neutropenia		ISO	RGD:1342967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neutropenia	PMID:12028042|PMID:25741868|PMID:31064749
8825740	F10	coagulation factor X	gene	DOID:12449	aplastic anemia		ISO	RGD:1342967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aplastic anemia	PMID:12028042|PMID:25741868|PMID:31064749
8825740	F10	coagulation factor X	gene	DOID:12450	pancytopenia		ISO	RGD:1342967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:12028042|PMID:25741868|PMID:31064749
8825740	F10	coagulation factor X	gene	DOID:1247	blood coagulation disease		ISO	RGD:1342967	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:62897
8825740	F10	coagulation factor X	gene	DOID:1588	thrombocytopenia		ISO	RGD:1342967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:12028042|PMID:25741868|PMID:31064749
8825740	F10	coagulation factor X	gene	DOID:1612	breast cancer		ISO	RGD:1342967	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs3093261 (human)	PMID:25407022|REF_RGD_ID:10449101
8825740	F10	coagulation factor X	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1342967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:12028042|PMID:25741868|PMID:31064749
8825740	F10	coagulation factor X	gene	DOID:2222	factor X deficiency		ISO	RGD:1342967	D	RGD:7240710	20180130	OMIM			
8825740	F10	coagulation factor X	gene	DOID:2222	factor X deficiency		ISO	RGD:1342967	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital factor X deficiency | ClinVar Annotator: match by term: F10-related disorder | ClinVar Annotator: match by term: FACTOR X DEFICIENCY | ClinVar Annotator: match by term: Factor X Deficiency | ClinVar Annotator: match by term: Factor X deficiency | ClinVar Annotator: match by term: STUART-PROWER FACTOR DEFICIENCY	PMID:10746568|PMID:16919077|PMID:18403394|PMID:1939653|PMID:20331754|PMID:21854511|PMID:25741868|PMID:30507709|PMID:31662920|PMID:33930902|PMID:8449937
8825740	F10	coagulation factor X	gene	DOID:4961	bone marrow disease		ISO	RGD:1342967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	PMID:12028042|PMID:25741868|PMID:31064749
8825740	F10	coagulation factor X	gene	DOID:630	genetic disease		ISO	RGD:1342967	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8825740	F10	coagulation factor X	gene	DOID:720	normocytic anemia		ISO	RGD:1342967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Normocytic anemia	PMID:12028042|PMID:25741868|PMID:31064749
8825740	F10	coagulation factor X	gene	DOID:9001512	Familial Amyloid Polyneuropathies		ISO	RGD:1342967	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma:	PMID:22624582|REF_RGD_ID:11041730
8825740	F10	coagulation factor X	gene	DOID:9002488	Peritoneal Fibrosis		ISO	RGD:61850	D	RGD:9068941	20200609	RGD			PMID:19458308|REF_RGD_ID:7394780
8825740	F10	coagulation factor X	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:1342967	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intracranial hemorrhage	PMID:25741868
8825740	F10	coagulation factor X	gene	DOID:9004203	Chromosome Breakage		ISO	RGD:1342967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chromosome breakage	PMID:12028042|PMID:25741868|PMID:31064749
8825740	F10	coagulation factor X	gene	DOID:9007075	Congenital Prothrombin Deficiency		ISO	RGD:1342967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prolonged prothrombin time	PMID:25741868
8825740	F10	coagulation factor X	gene	DOID:9007302	Vitreous Hemorrhage		ISO	RGD:1342967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vitreous hemorrhage	PMID:12028042|PMID:25741868|PMID:31064749
8825740	F10	coagulation factor X	gene	DOID:9007881	Hemoperitoneum		ISO	RGD:1342967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemoperitoneum	PMID:25741868
8825740	F10	coagulation factor X	gene	DOID:9008217	Hemorrhage		ISO	RGD:1342967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: bleeding	PMID:25741868
8825740	F10	coagulation factor X	gene	DOID:9008421	Epistaxis		ISO	RGD:1342967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868
8825740	F10	coagulation factor X	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8825740	F10	coagulation factor X	gene	DOID:9279	hyperhomocysteinemia	treatment	ISO	RGD:61850	D	RGD:9068941	20200609	RGD			PMID:16046705|REF_RGD_ID:1601105
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:0050562	West syndrome		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypsarrhythmia	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:0050840	cervical dystonia		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:0060157	diffuse alopecia areata		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patchy alopecia	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:0060180	colitis		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colitis	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:0060249	scoliosis		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: scoliosis	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:0060320	inguinal hernia		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:0112218	developmental and epileptic encephalopathy 83		ISO	RGD:1320978	D	RGD:7240710	20200226	OMIM			
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:0112218	developmental and epileptic encephalopathy 83		ISO	RGD:1320978	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 83	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:10907	microcephaly		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:10908	hydrocephalus		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:11111	hydronephrosis		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:11162	respiratory failure		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:1143	exotropia		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:11714	gestational diabetes		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:12197	punctate epithelial keratoconjunctivitis		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Punctate keratitis	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:12215	oligohydramnios		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:12959	lagophthalmos		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lagophthalmos	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:1826	epilepsy		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:1969	cerebral palsy		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:2234	focal epilepsy		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:2355	anemia		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:2841	asthma		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:2942	bronchiolitis		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiolitis	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:3275	thymoma		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320978	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:535	sleep disorder		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:543	dystonia		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:6195	conjunctivitis		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Conjunctivitis	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:630	genetic disease		ISO	RGD:1320978	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:8446	intussusception		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intussusception	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:850	lung disease		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:870	neuropathy		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9001581	Constipation		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9002554	Tachycardia		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9005827	Spontaneous Fractures		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pathologic fracture	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9007001	Bradycardia		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9007105	Hyperemesis Gravidarum		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperemesis gravidarum	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9007817	Macroglossia		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9008520	Chronic Pain		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic pain	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9008760	Oliguria		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oliguria	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus	PMID:25741868|PMID:28492532|PMID:31820119
8825752	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9834	hyperopia		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532|PMID:31820119
8825774	Tbrg1	transforming growth factor beta regulator 1	gene	DOID:1059	intellectual disability		ISO	RGD:1312969	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8825774	Tbrg1	transforming growth factor beta regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8825774	Tbrg1	transforming growth factor beta regulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8825774	Tbrg1	transforming growth factor beta regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825774	Tbrg1	transforming growth factor beta regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8825774	Tbrg1	transforming growth factor beta regulator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8825794	Lgi4	leucine rich repeat LGI family member 4	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1344124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868|PMID:31680123
8825794	Lgi4	leucine rich repeat LGI family member 4	gene	DOID:0080978	arthrogryposis multiplex congenita-1		ISO	RGD:1344124	D	RGD:7240710	20190315	OMIM			
8825794	Lgi4	leucine rich repeat LGI family member 4	gene	DOID:0080978	arthrogryposis multiplex congenita-1		ISO	RGD:1344124	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT | ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | ClinVar Annotator: match by term: Arthrogryposis multiplex congenita, neurogenic, with myelin defect | ClinVar Annotator: match by term: LGI4-related condition	PMID:25741868|PMID:25954003|PMID:27618451|PMID:28318499|PMID:28490743|PMID:28492532|PMID:31130284
8825794	Lgi4	leucine rich repeat LGI family member 4	gene	DOID:0090124	neurogenic-type arthrogryposis multiplex congenita-2		ISO	RGD:1344124	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type	PMID:25741868
8825794	Lgi4	leucine rich repeat LGI family member 4	gene	DOID:1825	childhood absence epilepsy		ISO	RGD:1344124	D	RGD:9068941	20200609	RGD		DNA:point mutation: :c.1914G>A (human)	PMID:14505228|REF_RGD_ID:1302591
8825794	Lgi4	leucine rich repeat LGI family member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1344124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8825794	Lgi4	leucine rich repeat LGI family member 4	gene	DOID:630	genetic disease		ISO	RGD:1344124	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25954003|PMID:27618451|PMID:28318499|PMID:28490743|PMID:28492532
8825794	Lgi4	leucine rich repeat LGI family member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8825814	Egr3	early growth response 3	gene	DOID:0080600	COVID-19		ISO	RGD:736598	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8825814	Egr3	early growth response 3	gene	DOID:3275	thymoma		ISO	RGD:736598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8825814	Egr3	early growth response 3	gene	DOID:9004866	Ataxia		ISO	RGD:736598	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16091474
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:0050567	orofacial cleft		ISO	RGD:733822	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Cleft lip/palate	PMID:25741868
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:0081210	autosomal recessive intellectual developmental disorder 46		ISO	RGD:733822	D	RGD:7240710	20180130	OMIM			
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:0081210	autosomal recessive intellectual developmental disorder 46		ISO	RGD:733822	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 46 | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 46 | ClinVar Annotator: match by term: NDST1-related condition	PMID:25125150|PMID:25741868|PMID:27620904|PMID:27870114|PMID:28492532|PMID:30997052
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:733822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16020517
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:1059	intellectual disability		ISO	RGD:733822	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:1115	sarcoma		ISO	RGD:733822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:736720	D	RGD:9068941	20220825	MouseDO		OMIM:188400	
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:736720	D	RGD:9068941	20220825	MouseDO		OMIM:267450	
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:1909	melanoma		ISO	RGD:733822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:736720	D	RGD:9068941	20220825	MouseDO		OMIM:142340 | OMIM:222400 | OMIM:610187	
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:733822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733822	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:630	genetic disease		ISO	RGD:733822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28211985|PMID:28492532
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:9001581	Constipation		ISO	RGD:733822	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: constipation	PMID:25741868
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:9002362	Hyperkinesis		ISO	RGD:733822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkinesis | ClinVar Annotator: match by term: Hyperkinetic movements	PMID:25741868|PMID:28492532
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733822	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25125150|PMID:25741868|PMID:27620904|PMID:27870114|PMID:28492532
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:733822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16020517
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:733822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16020517
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:733822	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
8825830	Ndst1	N-deacetylase and N-sulfotransferase 1	gene	DOID:93	language disorder		ISO	RGD:733822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:25741868|PMID:28492532
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:15637709|PMID:16199547|PMID:28492532|PMID:9731190
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:0111040	glycogen storage disease IXD		ISO	RGD:733215	D	RGD:7240710	20180130	OMIM			
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:0111040	glycogen storage disease IXD		ISO	RGD:733215	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE, TYPE IXd | ClinVar Annotator: match by term: GSD IXd | ClinVar Annotator: match by term: Glycogen storage disease IXd | ClinVar Annotator: match by term: PHKA1-related condition	PMID:15637709|PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:28492532|PMID:28600779|PMID:29667327|PMID:31127727|PMID:32528171|PMID:36034300|PMID:38586167|PMID:7874115|PMID:9536098|PMID:9731190
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:0111829	X-linked spinocerebellar ataxia 1		ISO	RGD:733215	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked	PMID:26242992|PMID:28492532
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:10534	stomach cancer		ISO	RGD:733215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:1059	intellectual disability		ISO	RGD:733215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:1324	lung cancer		ISO	RGD:733215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:1459	hypothyroidism		ISO	RGD:621522	D	RGD:9068941	20200609	RGD			PMID:2774570|REF_RGD_ID:70269
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:1909	melanoma		ISO	RGD:733215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:15637709|PMID:16199547|PMID:25741868|PMID:28492532|PMID:9731190
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:2747	glycogen storage disease		ISO	RGD:733215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glycogen storage disease	
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:3275	thymoma		ISO	RGD:733215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:4362	cervical cancer		ISO	RGD:733215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733215	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:630	genetic disease		ISO	RGD:733215	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:870	neuropathy		ISO	RGD:733215	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:733215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:17576681|PMID:28492532|PMID:36034300|PMID:9536098
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:621522	D	RGD:9068941	20200609	RGD			PMID:11692172|REF_RGD_ID:1599897
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:15637709|PMID:16199547|PMID:25741868|PMID:28492532|PMID:9731190
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8825850	Phka1	phosphorylase kinase regulatory subunit alpha 1	gene	DOID:9271	ornithine carbamoyltransferase deficiency		ISO	RGD:733215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency	PMID:25741868
8825900	Gtf2i	general transcription factor IIi	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8825900	Gtf2i	general transcription factor IIi	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1347498	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:22048961
8825900	Gtf2i	general transcription factor IIi	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1347498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
8825900	Gtf2i	general transcription factor IIi	gene	DOID:10534	stomach cancer		ISO	RGD:1347498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8825900	Gtf2i	general transcription factor IIi	gene	DOID:12849	autistic disorder		ISO	RGD:1347498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
8825900	Gtf2i	general transcription factor IIi	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1347498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24097066
8825900	Gtf2i	general transcription factor IIi	gene	DOID:1928	Williams-Beuren syndrome		ISO	RGD:1347498	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:20007321|PMID:21328569
8825900	Gtf2i	general transcription factor IIi	gene	DOID:1928	Williams-Beuren syndrome		ISO	RGD:1620113	D	RGD:9068941	20250724	MouseDO		OMIM:194050	
8825900	Gtf2i	general transcription factor IIi	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1347498	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8825900	Gtf2i	general transcription factor IIi	gene	DOID:4362	cervical cancer		ISO	RGD:1347498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8825900	Gtf2i	general transcription factor IIi	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8825900	Gtf2i	general transcription factor IIi	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825900	Gtf2i	general transcription factor IIi	gene	DOID:9000048	Thymic Epithelial Tumor		ISO	RGD:1347498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24974848
8825900	Gtf2i	general transcription factor IIi	gene	DOID:9003816	Macrocephaly		ISO	RGD:1347498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8825900	Gtf2i	general transcription factor IIi	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1347498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	
8825900	Gtf2i	general transcription factor IIi	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18206229
8825954	Rab7b	RAB7B, member RAS oncogene family	gene	DOID:11476	osteoporosis		ISO	RGD:1346465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
8825954	Rab7b	RAB7B, member RAS oncogene family	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1346465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
8825967	Slc35f6	solute carrier family 35 member F6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8825967	Slc35f6	solute carrier family 35 member F6	gene	DOID:1324	lung cancer		ISO	RGD:1319452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8825967	Slc35f6	solute carrier family 35 member F6	gene	DOID:4362	cervical cancer		ISO	RGD:1319452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8825967	Slc35f6	solute carrier family 35 member F6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825967	Slc35f6	solute carrier family 35 member F6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8825977	Clec4d	C-type lectin domain family 4 member D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8825977	Clec4d	C-type lectin domain family 4 member D	gene	DOID:1324	lung cancer		ISO	RGD:1347298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8825977	Clec4d	C-type lectin domain family 4 member D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8825977	Clec4d	C-type lectin domain family 4 member D	gene	DOID:850	lung disease		ISO	RGD:1347298	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21602193
8825977	Clec4d	C-type lectin domain family 4 member D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:0050817	Stargardt disease		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stargardt disease	PMID:28492532
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:0050952	spastic ataxia		ISO	RGD:1313772	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:0050981	spinocerebellar ataxia 34		ISO	RGD:1313772	D	RGD:7240710	20180425	OMIM			
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:0050981	spinocerebellar ataxia 34		ISO	RGD:1313772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia type 34	PMID:15930014|PMID:24566826|PMID:25741868|PMID:28492532|PMID:28559085|PMID:30065956|PMID:30982505|PMID:31105016|PMID:31616255|PMID:31692161|PMID:31750392|PMID:32211516|PMID:32780351|PMID:33556440|PMID:34234304|PMID:34623043|PMID:37787810
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma	
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:0061238	Stargardt disease 3		ISO	RGD:1313772	D	RGD:7240710	20180130	OMIM			
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:0061238	Stargardt disease 3		ISO	RGD:1313772	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: STARGARDT DISEASE 3 | ClinVar Annotator: match by term: STARGARDT-LIKE MACULAR DYSTROPHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Stargardt disease 3	PMID:15557430|PMID:15930014|PMID:24566826|PMID:25741868|PMID:27116512|PMID:28492532|PMID:28559085|PMID:31692161|PMID:31750392|PMID:32211516|PMID:33546218|PMID:34073554
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:11155	hypohidrosis		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:1588	thrombocytopenia		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:1909	melanoma		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:2566	corneal dystrophy		ISO	RGD:1313772	D	RGD:9068941	20200609	RGD			PMID:11726641|REF_RGD_ID:1598895
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:630	genetic disease		ISO	RGD:1313772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:83	cataract		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1305630	D	RGD:9068941	20250717	RGD		mRNA:altered expression:retina	PMID:24736612|REF_RGD_ID:617212661
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:9000495	Tremor		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intention tremor	
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:9000515	Ichthyosis, Spastic Quadriplegia, and Mental Retardation		ISO	RGD:1313772	D	RGD:7240710	20180130	OMIM			
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:9000515	Ichthyosis, Spastic Quadriplegia, and Mental Retardation		ISO	RGD:1313772	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION	PMID:11138005|PMID:15930014|PMID:22100072|PMID:23509295|PMID:24566826|PMID:24833735|PMID:25741868|PMID:28492532|PMID:28559085|PMID:31692161|PMID:31750392|PMID:32211516
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:9001722	Dysarthria		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:9003286	Diplopia		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diplopia	
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:9004484	Sepsis		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sepsis	
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:9004866	Ataxia		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532|PMID:30065956|PMID:30982505|PMID:31105016|PMID:31616255|PMID:32780351|PMID:33556440|PMID:34234304|PMID:34623043
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:963	episodic ataxia		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary episodic ataxia	
8825996	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus	
8826011	Gtf2ird1	GTF2I repeat domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8826011	Gtf2ird1	GTF2I repeat domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8826011	Gtf2ird1	GTF2I repeat domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:733836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8826011	Gtf2ird1	GTF2I repeat domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8826011	Gtf2ird1	GTF2I repeat domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:733836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8826011	Gtf2ird1	GTF2I repeat domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:733836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8826011	Gtf2ird1	GTF2I repeat domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:733836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8826011	Gtf2ird1	GTF2I repeat domain containing 1	gene	DOID:1928	Williams-Beuren syndrome		ISO	RGD:733836	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:20007321
8826011	Gtf2ird1	GTF2I repeat domain containing 1	gene	DOID:1928	Williams-Beuren syndrome		ISO	RGD:733837	D	RGD:9068941	20250724	MouseDO		OMIM:194050	
8826011	Gtf2ird1	GTF2I repeat domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:733836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8826011	Gtf2ird1	GTF2I repeat domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8826011	Gtf2ird1	GTF2I repeat domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826011	Gtf2ird1	GTF2I repeat domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:733836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8826011	Gtf2ird1	GTF2I repeat domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8826011	Gtf2ird1	GTF2I repeat domain containing 1	gene	DOID:9007491	Childhood Schizophrenia		ISO	RGD:733836	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Childhood Onset Schizophrenia	PMID:26508570
8826011	Gtf2ird1	GTF2I repeat domain containing 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:733836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20007321
8826011	Gtf2ird1	GTF2I repeat domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8826011	Gtf2ird1	GTF2I repeat domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:733836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8826063	R3hdml	R3H domain containing like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826063	R3hdml	R3H domain containing like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8826072	Ilf2	interleukin enhancer binding factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8826072	Ilf2	interleukin enhancer binding factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8826072	Ilf2	interleukin enhancer binding factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8826072	Ilf2	interleukin enhancer binding factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8826072	Ilf2	interleukin enhancer binding factor 2	gene	DOID:3275	thymoma		ISO	RGD:1313940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8826072	Ilf2	interleukin enhancer binding factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8826072	Ilf2	interleukin enhancer binding factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313940	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8826072	Ilf2	interleukin enhancer binding factor 2	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1313940	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8826072	Ilf2	interleukin enhancer binding factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826072	Ilf2	interleukin enhancer binding factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8826072	Ilf2	interleukin enhancer binding factor 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313940	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
8826072	Ilf2	interleukin enhancer binding factor 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8826072	Ilf2	interleukin enhancer binding factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8826093	Kcna10	potassium voltage-gated channel subfamily A member 10	gene	DOID:2843	long QT syndrome		ISO	RGD:1312242	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	
8826093	Kcna10	potassium voltage-gated channel subfamily A member 10	gene	DOID:3426	vestibular disease		ISO	RGD:1621289	D	RGD:9068941	20220825	MouseDO			
8826103	Il20ra	interleukin 20 receptor subunit alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8826103	Il20ra	interleukin 20 receptor subunit alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1316471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8826103	Il20ra	interleukin 20 receptor subunit alpha	gene	DOID:1115	sarcoma		ISO	RGD:1316471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8826103	Il20ra	interleukin 20 receptor subunit alpha	gene	DOID:14115	toxic shock syndrome		ISO	RGD:1618138	D	RGD:9068941	20200609	RGD		mRNA:increased expression:multiple	PMID:18246602|REF_RGD_ID:5037232
8826103	Il20ra	interleukin 20 receptor subunit alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8826103	Il20ra	interleukin 20 receptor subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1316471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8826103	Il20ra	interleukin 20 receptor subunit alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316471	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8826103	Il20ra	interleukin 20 receptor subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826103	Il20ra	interleukin 20 receptor subunit alpha	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1316471	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8826122	Misp	mitotic spindle positioning	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8826122	Misp	mitotic spindle positioning	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8826122	Misp	mitotic spindle positioning	gene	DOID:10534	stomach cancer		ISO	RGD:1317766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8826122	Misp	mitotic spindle positioning	gene	DOID:4362	cervical cancer		ISO	RGD:1317766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8826122	Misp	mitotic spindle positioning	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826122	Misp	mitotic spindle positioning	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8826132	Cep72	centrosomal protein 72	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8826132	Cep72	centrosomal protein 72	gene	DOID:10534	stomach cancer		ISO	RGD:1603993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8826132	Cep72	centrosomal protein 72	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8826132	Cep72	centrosomal protein 72	gene	DOID:1324	lung cancer		ISO	RGD:1603993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8826132	Cep72	centrosomal protein 72	gene	DOID:3275	thymoma		ISO	RGD:1603993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8826132	Cep72	centrosomal protein 72	gene	DOID:4362	cervical cancer		ISO	RGD:1603993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8826132	Cep72	centrosomal protein 72	gene	DOID:5041	esophageal cancer		ISO	RGD:1603993	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8826132	Cep72	centrosomal protein 72	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826132	Cep72	centrosomal protein 72	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8826132	Cep72	centrosomal protein 72	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8826132	Cep72	centrosomal protein 72	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8826132	Cep72	centrosomal protein 72	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8826181	Acp2	acid phosphatase 2, lysosomal	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:10071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8826181	Acp2	acid phosphatase 2, lysosomal	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:10071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8826181	Acp2	acid phosphatase 2, lysosomal	gene	DOID:10534	stomach cancer		ISO	RGD:10071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8826181	Acp2	acid phosphatase 2, lysosomal	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:10071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826181	Acp2	acid phosphatase 2, lysosomal	gene	DOID:9006216	Acid Phosphatase Deficiency		ISO	RGD:10071	D	RGD:7240710	20180130	OMIM			
8826181	Acp2	acid phosphatase 2, lysosomal	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:10071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8826205	Stard3nl	STARD3 N-terminal like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8826205	Stard3nl	STARD3 N-terminal like	gene	DOID:10534	stomach cancer		ISO	RGD:1318520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8826205	Stard3nl	STARD3 N-terminal like	gene	DOID:1909	melanoma		ISO	RGD:1318520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8826205	Stard3nl	STARD3 N-terminal like	gene	DOID:3275	thymoma		ISO	RGD:1318520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8826205	Stard3nl	STARD3 N-terminal like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8826205	Stard3nl	STARD3 N-terminal like	gene	DOID:4362	cervical cancer		ISO	RGD:1318520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8826205	Stard3nl	STARD3 N-terminal like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8826205	Stard3nl	STARD3 N-terminal like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8826205	Stard3nl	STARD3 N-terminal like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8826230	Cfl1	cofilin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8826230	Cfl1	cofilin 1	gene	DOID:0050562	West syndrome		ISO	RGD:69285	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain (rat)	PMID:24994451|REF_RGD_ID:11570411
8826230	Cfl1	cofilin 1	gene	DOID:0050731	vitamin B12 deficiency		ISO	RGD:69285	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney (rat)	PMID:25982389|REF_RGD_ID:11352764
8826230	Cfl1	cofilin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8826230	Cfl1	cofilin 1	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:732970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
8826230	Cfl1	cofilin 1	gene	DOID:0080016	spina bifida		ISO	RGD:732970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17352815
8826230	Cfl1	cofilin 1	gene	DOID:11457	brain compression	treatment	ISO	RGD:732970	D	RGD:9068941	20200609	RGD			PMID:25708984|REF_RGD_ID:12738361
8826230	Cfl1	cofilin 1	gene	DOID:1184	nephrotic syndrome	treatment	ISO	RGD:69285	D	RGD:9068941	20200609	RGD			PMID:24737737|REF_RGD_ID:11570418
8826230	Cfl1	cofilin 1	gene	DOID:1824	status epilepticus	treatment	ISO	RGD:69285	D	RGD:9068941	20200609	RGD			PMID:27642592|REF_RGD_ID:11568691
8826230	Cfl1	cofilin 1	gene	DOID:1875	impotence		ISO	RGD:69285	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:corpus cavernosum penis (rat)	PMID:25923835|REF_RGD_ID:11568706
8826230	Cfl1	cofilin 1	gene	DOID:1875	impotence	treatment	ISO	RGD:69285	D	RGD:9068941	20200609	RGD			PMID:25444982|REF_RGD_ID:11570410
8826230	Cfl1	cofilin 1	gene	DOID:1909	melanoma		ISO	RGD:732970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8826230	Cfl1	cofilin 1	gene	DOID:3070	high grade glioma		ISO	RGD:732970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8826230	Cfl1	cofilin 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:732970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
8826230	Cfl1	cofilin 1	gene	DOID:4948	gallbladder carcinoma	severity	ISO	RGD:732970	D	RGD:9068941	20200609	RGD		Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human)	PMID:23320827|REF_RGD_ID:11571623
8826230	Cfl1	cofilin 1	gene	DOID:5199	ureteral obstruction		ISO	RGD:69285	D	RGD:9068941	20200609	RGD		protein:increased expression:inner medulla of kidney (rat)	PMID:24761003|REF_RGD_ID:11570413
8826230	Cfl1	cofilin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8826230	Cfl1	cofilin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826230	Cfl1	cofilin 1	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:69285	D	RGD:9068941	20200609	RGD			PMID:24292258|REF_RGD_ID:11570534
8826230	Cfl1	cofilin 1	gene	DOID:767	muscular atrophy		ISO	RGD:69285	D	RGD:9068941	20200609	RGD		protein:decreased phosphorylation:gastrocnemius (rat)	PMID:24711688|REF_RGD_ID:11570530
8826230	Cfl1	cofilin 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:732970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20562527
8826230	Cfl1	cofilin 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69285	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased phosphorylation:renal glomerulus (rat)	PMID:24726496|REF_RGD_ID:11570419
8826230	Cfl1	cofilin 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:69285	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:dorsal root ganglion (rat)	PMID:24962708|REF_RGD_ID:11570412
8826230	Cfl1	cofilin 1	gene	DOID:9003234	Hypertensive Nephropathy		ISO	RGD:69285	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:kidney (rat)	PMID:26450610|REF_RGD_ID:11520804
8826230	Cfl1	cofilin 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:732970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15048980
8826230	Cfl1	cofilin 1	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:69285	D	RGD:9068941	20200609	RGD		protein:altered expression:striatum (rat)	PMID:27018876|REF_RGD_ID:11568696
8826230	Cfl1	cofilin 1	gene	DOID:9005968	Neuralgia	treatment	ISO	RGD:69285	D	RGD:9068941	20200609	RGD		associated with Sciatic Neuropathy	PMID:27216618|REF_RGD_ID:11568694
8826230	Cfl1	cofilin 1	gene	DOID:9006945	Diabetic Cardiomyopathies	treatment	ISO	RGD:69285	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:27576917|REF_RGD_ID:11568692
8826230	Cfl1	cofilin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8826230	Cfl1	cofilin 1	gene	DOID:9008091	Optic Nerve Injuries	treatment	ISO	RGD:69285	D	RGD:9068941	20200609	RGD			PMID:27443501|REF_RGD_ID:11568693
8826230	Cfl1	cofilin 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20562527
8826230	Cfl1	cofilin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8826238	Tmem225	transmembrane protein 225	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8826238	Tmem225	transmembrane protein 225	gene	DOID:10534	stomach cancer		ISO	RGD:1605235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0002116	pterygium		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pterygium	PMID:25741868
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:19814614|PMID:25741868|PMID:28492532
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0060058	lymphoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0060642	recessive dystrophic epidermolysis bullosa		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive epidermolysis bullosa dystrophica inversa | ClinVar Annotator: match by term: Dystrophic Epidermolysis Bullosa, Recessive | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive | ClinVar Annotator: match by term: Hallopeau-Siemens Disease | ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: epidermolysis bullosa dystrophica, autosomal recessive | ClinVar Annotator: match by term: recessive dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: severe generalized recessive dystrophic epidermolysis bullosa	PMID:10084325|PMID:10383749|PMID:10408773|PMID:10469344|PMID:10504458|PMID:10944088|PMID:11000732|PMID:11378329|PMID:11698408|PMID:11781296|PMID:12485454|PMID:12735646|PMID:12787275|PMID:12813757|PMID:15509587|PMID:15816848|PMID:15888141|PMID:16189623|PMID:16199547|PMID:16271705|PMID:16484981|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17425959|PMID:17576681|PMID:17916216|PMID:18414213|PMID:18440202|PMID:18450758|PMID:18558993|PMID:18565177|PMID:18951764|PMID:19197535|PMID:19344236|PMID:19643583|PMID:19665875|PMID:19681861|PMID:19814614|PMID:20060269|PMID:20184583|PMID:20357813|PMID:20555349|PMID:20598510|PMID:21113014|PMID:21182502|PMID:21269315|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22070715|PMID:22209565|PMID:22266148|PMID:23237810|PMID:23397949|PMID:23688405|PMID:23786535|PMID:24032424|PMID:24033266|PMID:24213372|PMID:24252097|PMID:24533879|PMID:24899116|PMID:24947307|PMID:24989707|PMID:25088787|PMID:25201089|PMID:25284350|PMID:25683012|PMID:25741868|PMID:25913354|PMID:26076072|PMID:26102279|PMID:26148662|PMID:26168399|PMID:26446410|PMID:26612796|PMID:26707537|PMID:26763448|PMID:27746867|PMID:27899325|PMID:28492532|PMID:28549954|PMID:28830826|PMID:29229433|PMID:29334134|PMID:29364557|PMID:29427316|PMID:29473190|PMID:29512197|PMID:29531004|PMID:29753707|PMID:29963685|PMID:30467950|PMID:31001817|PMID:31589614|PMID:31670143|PMID:31709745|PMID:31786163|PMID:31930626|PMID:32383240|PMID:32484238|PMID:32506467|PMID:32707200|PMID:33258232|PMID:33274474|PMID:33969388|PMID:33974636|PMID:34230977|PMID:34435747|PMID:34597860|PMID:34674926|PMID:35149000|PMID:35150601|PMID:35347281|PMID:35979658|PMID:36287101|PMID:36340603|PMID:36430820|PMID:37067131|PMID:37302620|PMID:37556444|PMID:38264431|PMID:38368142|PMID:38484894|PMID:38820176|PMID:39141798|PMID:40701620|PMID:7695699|PMID:7833933|PMID:7883979|PMID:8037207|PMID:8218237|PMID:8513326|PMID:8592061|PMID:8644729|PMID:8755915|PMID:9215684|PMID:9242516|PMID:9326325|PMID:9347800|PMID:9536098|PMID:9740253|PMID:9804332|PMID:9881948
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0060735	generalized severe epidermolysis bullosa simplex 1A		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe	PMID:15576681|PMID:16971478|PMID:17229600|PMID:25741868|PMID:28492532|PMID:9636098
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0080082	nonsyndromic congenital nail disorder 4		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ANONYCHIA TOTALIS | ClinVar Annotator: match by term: Anonychia	PMID:10408773|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16271705|PMID:16971478|PMID:19665875|PMID:19681861|PMID:20598510|PMID:22266148|PMID:24033266|PMID:25201089|PMID:25741868|PMID:26076072|PMID:26148662|PMID:28492532|PMID:28549954|PMID:31670143|PMID:32383240|PMID:33274474|PMID:34230977|PMID:35979658|PMID:8755915|PMID:9881948
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0080086	nonsyndromic congenital nail disorder 8		ISO	RGD:1322869	D	RGD:7240710	20180130	OMIM			
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0080086	nonsyndromic congenital nail disorder 8		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 8 | ClinVar Annotator: match by term: TOENAIL DYSTROPHY, ISOLATED	PMID:10084325|PMID:10408773|PMID:10469344|PMID:10504458|PMID:11781296|PMID:12485454|PMID:12735646|PMID:12787275|PMID:15816848|PMID:15888141|PMID:16199547|PMID:16271705|PMID:16484981|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17425959|PMID:17576681|PMID:18440202|PMID:18565177|PMID:19344236|PMID:19665875|PMID:19681861|PMID:19814614|PMID:20060269|PMID:20357813|PMID:20598510|PMID:21182502|PMID:21269315|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22266148|PMID:23237810|PMID:23397949|PMID:24032424|PMID:24033266|PMID:24947307|PMID:25201089|PMID:25741868|PMID:25913354|PMID:26076072|PMID:26102279|PMID:26148662|PMID:26446410|PMID:26763448|PMID:28492532|PMID:28549954|PMID:29334134|PMID:29427316|PMID:29531004|PMID:29963685|PMID:30467950|PMID:31001817|PMID:31670143|PMID:31709745|PMID:31930626|PMID:32383240|PMID:32484238|PMID:32707200|PMID:33274474|PMID:33969388|PMID:33974636|PMID:34230977|PMID:35979658|PMID:38820176|PMID:7695699|PMID:7833933|PMID:8218237|PMID:8755915|PMID:9215684|PMID:9242516|PMID:9326325|PMID:9536098|PMID:9740253|PMID:9804332|PMID:9881948
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0080224	autosomal dominant dystrophic epidermolysis bullosa		ISO	RGD:1322869	D	RGD:7240710	20180130	OMIM			
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0080224	autosomal dominant dystrophic epidermolysis bullosa		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal dominant dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant	PMID:10232408|PMID:10408773|PMID:10469344|PMID:10504458|PMID:11710955|PMID:11781296|PMID:12485454|PMID:12735646|PMID:12787275|PMID:15816848|PMID:15888141|PMID:16199547|PMID:16271705|PMID:16484981|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17425959|PMID:17576681|PMID:18440202|PMID:18565177|PMID:19344236|PMID:19665875|PMID:19681861|PMID:19814614|PMID:20060269|PMID:20357813|PMID:20598510|PMID:21182502|PMID:21269315|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22266148|PMID:22481662|PMID:23237810|PMID:23397949|PMID:24032424|PMID:24033266|PMID:2425097|PMID:24947307|PMID:25201089|PMID:25741868|PMID:25913354|PMID:26076072|PMID:26102279|PMID:26148662|PMID:26446410|PMID:26763448|PMID:28297147|PMID:28492532|PMID:28549954|PMID:29334134|PMID:29427316|PMID:29531004|PMID:29963685|PMID:30467950|PMID:31001817|PMID:31670143|PMID:31709745|PMID:31930626|PMID:32383240|PMID:32484238|PMID:32707200|PMID:33274474|PMID:33969388|PMID:33974636|PMID:34230977|PMID:35979658|PMID:37827535|PMID:38820176|PMID:5910871|PMID:7695699|PMID:7833933|PMID:8218237|PMID:8618021|PMID:8752681|PMID:8755915|PMID:9242516|PMID:9326325|PMID:9536098|PMID:9804332|PMID:9856843|PMID:9881948
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0080988	pretibial dystrophic epidermolysis bullosa		ISO	RGD:1322869	D	RGD:7240710	20180130	OMIM			
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0080988	pretibial dystrophic epidermolysis bullosa		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, PRETIBIAL | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive | ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Pretibial epidermolysis bullosa	PMID:10084325|PMID:10232408|PMID:10408773|PMID:10504458|PMID:10944088|PMID:11378329|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15816848|PMID:15888141|PMID:16199547|PMID:16271705|PMID:16484981|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17425959|PMID:17576681|PMID:18440202|PMID:18565177|PMID:19197535|PMID:19344236|PMID:19665875|PMID:19681861|PMID:19814614|PMID:20060269|PMID:20184583|PMID:20357813|PMID:20598510|PMID:21182502|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22266148|PMID:22481662|PMID:23237810|PMID:24032424|PMID:24033266|PMID:24213372|PMID:24947307|PMID:25201089|PMID:25284350|PMID:25741868|PMID:25913354|PMID:26076072|PMID:26102279|PMID:26148662|PMID:26446410|PMID:26763448|PMID:28297147|PMID:28492532|PMID:28549954|PMID:29334134|PMID:29427316|PMID:29531004|PMID:30467950|PMID:31001817|PMID:31670143|PMID:31930626|PMID:32383240|PMID:32484238|PMID:32707200|PMID:33274474|PMID:33969388|PMID:33974636|PMID:34230977|PMID:35979658|PMID:37827535|PMID:38820176|PMID:39141798|PMID:7695699|PMID:7833933|PMID:8218237|PMID:8755915|PMID:9215684|PMID:9242516|PMID:9326325|PMID:9536098|PMID:9740253|PMID:9804332|PMID:9881948
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0111162	epidermal nevus		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epidermal nevus	PMID:28492532
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0111345	transient bullous dermolysis of the newborn		ISO	RGD:1322869	D	RGD:7240710	20180130	OMIM			
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0111345	transient bullous dermolysis of the newborn		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM | ClinVar Annotator: match by term: TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN | ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn	PMID:10084325|PMID:10408773|PMID:10504458|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15816848|PMID:15888141|PMID:16199547|PMID:16271705|PMID:16484981|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17425959|PMID:17576681|PMID:18440202|PMID:18565177|PMID:19344236|PMID:19665875|PMID:19681861|PMID:19814614|PMID:20060269|PMID:20357813|PMID:20598510|PMID:21182502|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22266148|PMID:23106673|PMID:23237810|PMID:24032424|PMID:24033266|PMID:24947307|PMID:25201089|PMID:25741868|PMID:25913354|PMID:26076072|PMID:26102279|PMID:26148662|PMID:26446410|PMID:26763448|PMID:28492532|PMID:28549954|PMID:29334134|PMID:29427316|PMID:29531004|PMID:30467950|PMID:31001817|PMID:31670143|PMID:31930626|PMID:32383240|PMID:32484238|PMID:32707200|PMID:33274474|PMID:33969388|PMID:33974636|PMID:34230977|PMID:35979658|PMID:38820176|PMID:7695699|PMID:7833933|PMID:8218237|PMID:8755915|PMID:9215684|PMID:9242516|PMID:9326325|PMID:9406826|PMID:9536098|PMID:9740253|PMID:9804332|PMID:9881948
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0111347	epidermolysis bullosa with congenital localized absence of skin and deformity of nails		ISO	RGD:1322869	D	RGD:7240710	20180130	OMIM			
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0111347	epidermolysis bullosa with congenital localized absence of skin and deformity of nails		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE	PMID:10084325|PMID:10408773|PMID:10504458|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15816848|PMID:15888141|PMID:16199547|PMID:16271705|PMID:16484981|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17425959|PMID:17576681|PMID:18440202|PMID:18565177|PMID:19344236|PMID:19665875|PMID:19681861|PMID:19814614|PMID:20060269|PMID:20357813|PMID:20598510|PMID:21182502|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22266148|PMID:23237810|PMID:24032424|PMID:24033266|PMID:24947307|PMID:25201089|PMID:25741868|PMID:25913354|PMID:26076072|PMID:26102279|PMID:26148662|PMID:26446410|PMID:26763448|PMID:28492532|PMID:28549954|PMID:29334134|PMID:29427316|PMID:29531004|PMID:30467950|PMID:31001817|PMID:31670143|PMID:31930626|PMID:32383240|PMID:32484238|PMID:32707200|PMID:33274474|PMID:33969388|PMID:33974636|PMID:34230977|PMID:35979658|PMID:38820176|PMID:7695699|PMID:7833933|PMID:8218237|PMID:8755915|PMID:9215684|PMID:9242516|PMID:9326325|PMID:9536098|PMID:9804332|PMID:9881948
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:10907	microcephaly		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16971478|PMID:25741868|PMID:27899325|PMID:28492532|PMID:29753707|PMID:37556444|PMID:38368142|PMID:8037207
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:1115	sarcoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:11720	distal myopathy		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:16971478|PMID:25741868|PMID:27899325|PMID:28492532|PMID:29753707|PMID:37556444|PMID:38368142|PMID:8037207
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:11830	myopia		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:12849	autistic disorder		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:10504458|PMID:11710955|PMID:16971478|PMID:17425959|PMID:18414213|PMID:19344236|PMID:21448560|PMID:22058051|PMID:23786535|PMID:2425097|PMID:24252097|PMID:25741868|PMID:28492532|PMID:29963685|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8752681
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:1697	ichthyosis		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis	PMID:28492532
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:25741868
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:19814614|PMID:25741868|PMID:28492532
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aplasia cutis congenita	PMID:25741868|PMID:28492532
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:2154	nephroblastoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephroblastoma	PMID:10504458|PMID:11710955|PMID:16971478|PMID:17425959|PMID:18414213|PMID:19344236|PMID:21448560|PMID:22058051|PMID:23786535|PMID:2425097|PMID:24252097|PMID:25741868|PMID:28492532|PMID:29963685|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8752681
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta type 1	
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:2355	anemia		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:16971478|PMID:25741868|PMID:28492532
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:2394	ovarian cancer		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:2730	epidermolysis bullosa		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa	PMID:25741868
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:25741868|PMID:28492532
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:2975	cystic kidney disease		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:3275	thymoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1322869	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30381462
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:4603	epidermolytic hyperkeratosis		ISO	RGD:1322869	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Epidermolytic ichthyosis	PMID:28492532
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:4959	epidermolysis bullosa dystrophica		ISO	RGD:1322869	D	RGD:7240710	20180130	OMIM			
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:4959	epidermolysis bullosa dystrophica		ISO	RGD:1322869	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica	PMID:10084325|PMID:10383749|PMID:10408773|PMID:10469344|PMID:10504458|PMID:10583163|PMID:10836608|PMID:10944088|PMID:10980546|PMID:11167698|PMID:11378329|PMID:11698408|PMID:11710955|PMID:11781296|PMID:11843659|PMID:11874498|PMID:12207583|PMID:12485454|PMID:12653705|PMID:12735646|PMID:12787275|PMID:12813757|PMID:15509587|PMID:15550148|PMID:15816848|PMID:15888141|PMID:16189623|PMID:16199547|PMID:16271705|PMID:16439963|PMID:16484981|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17282977|PMID:17425959|PMID:17495952|PMID:17501948|PMID:17576681|PMID:17916216|PMID:18030675|PMID:18414213|PMID:18429782|PMID:18440202|PMID:18450758|PMID:18558993|PMID:18565177|PMID:18951764|PMID:19197535|PMID:19344236|PMID:19439919|PMID:19665875|PMID:19681861|PMID:19694003|PMID:19694005|PMID:19726672|PMID:19814614|PMID:20108398|PMID:20108428|PMID:20184583|PMID:20357813|PMID:20585476|PMID:20598510|PMID:20920254|PMID:21124339|PMID:21269315|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22070715|PMID:22209565|PMID:22266148|PMID:23237810|PMID:23397949|PMID:23786535|PMID:23947675|PMID:24032424|PMID:24033266|PMID:24170138|PMID:24210835|PMID:24213372|PMID:2425097|PMID:24252097|PMID:24279917|PMID:24317394|PMID:24577406|PMID:24599399|PMID:24794830|PMID:24831336|PMID:24947307|PMID:25155989|PMID:25201089|PMID:25222259|PMID:25284350|PMID:25525159|PMID:25556825|PMID:25741868|PMID:25819062|PMID:25913354|PMID:26076072|PMID:26102279|PMID:26143532|PMID:26148662|PMID:26446410|PMID:26467025|PMID:26612796|PMID:26763448|PMID:26864810|PMID:27153395|PMID:27544590|PMID:27746867|PMID:27899325|PMID:28492532|PMID:28830826|PMID:28853495|PMID:29130490|PMID:29229433|PMID:29242947|PMID:29272047|PMID:29334134|PMID:29364557|PMID:29427316|PMID:29473190|PMID:29500833|PMID:29963685|PMID:30280950|PMID:31001817|PMID:31090061|PMID:31670143|PMID:31709745|PMID:31786163|PMID:31930626|PMID:32383240|PMID:32484238|PMID:32506467|PMID:32860008|PMID:33274474|PMID:33587123|PMID:33969388|PMID:34046686|PMID:34230977|PMID:34435747|PMID:34674926|PMID:34826142|PMID:34948168|PMID:35432467|PMID:35885431|PMID:35979658|PMID:36287101|PMID:36430820|PMID:5910871|PMID:7577595|PMID:7695699|PMID:7833933|PMID:7861014|PMID:8037207|PMID:8088783|PMID:8218237|PMID:8345225|PMID:8592061|PMID:8618004|PMID:8618018|PMID:8618021|PMID:8644729|PMID:8644730|PMID:8752681|PMID:8755915|PMID:8900535|PMID:9042157|PMID:9215684|PMID:9242516|PMID:9326325|PMID:9347800|PMID:9536098|PMID:9666834|PMID:9668111|PMID:9740253|PMID:9804332|PMID:9856844|PMID:9881948|PMID:9892921
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:4959	epidermolysis bullosa dystrophica		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica	PMID:10084325|PMID:10233777|PMID:10367729|PMID:10383749|PMID:10383751|PMID:10408773|PMID:10469344|PMID:1050445|PMID:10504458|PMID:10836608|PMID:10944088|PMID:10980546|PMID:11000732|PMID:11167698|PMID:11260189|PMID:11698408|PMID:11710955|PMID:11722462|PMID:11781296|PMID:11843659|PMID:12207583|PMID:12228020|PMID:12485454|PMID:12653705|PMID:12735646|PMID:12787275|PMID:12813757|PMID:14616374|PMID:15113589|PMID:15115517|PMID:15509587|PMID:15807692|PMID:15816848|PMID:15888141|PMID:16185268|PMID:16189623|PMID:16199547|PMID:16271705|PMID:16439963|PMID:16470588|PMID:16484981|PMID:16500083|PMID:16533235|PMID:16871478|PMID:16965329|PMID:16965439|PMID:16971478|PMID:17073998|PMID:17282977|PMID:17425959|PMID:17434045|PMID:17495952|PMID:17501948|PMID:17576681|PMID:17916216|PMID:18414213|PMID:18429782|PMID:18440202|PMID:18450758|PMID:18558993|PMID:18565177|PMID:18951764|PMID:19197535|PMID:19344236|PMID:19439919|PMID:19643583|PMID:19665875|PMID:19681861|PMID:19694003|PMID:19694005|PMID:19726672|PMID:19814614|PMID:20060269|PMID:20108398|PMID:20108428|PMID:20184583|PMID:20357813|PMID:20376098|PMID:20555349|PMID:20585476|PMID:20598510|PMID:20818854|PMID:20920254|PMID:21113014|PMID:21124339|PMID:21182502|PMID:21196708|PMID:21269315|PMID:21382783|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22209565|PMID:22266148|PMID:22352907|PMID:22382802|PMID:22854212|PMID:23013315|PMID:23237810|PMID:23397949|PMID:23786535|PMID:24032424|PMID:24033266|PMID:24075228|PMID:24170138|PMID:24210835|PMID:24213372|PMID:2425097|PMID:24252097|PMID:24577406|PMID:24599399|PMID:24947307|PMID:24989707|PMID:25088787|PMID:25155989|PMID:25201089|PMID:25222259|PMID:25525159|PMID:25556825|PMID:25683012|PMID:25703736|PMID:25741868|PMID:25913354|PMID:26076072|PMID:26102279|PMID:26148662|PMID:26446410|PMID:26467025|PMID:26595603|PMID:26612796|PMID:26707537|PMID:26763448|PMID:26864810|PMID:27130450|PMID:27149842|PMID:27544590|PMID:27746867|PMID:27899325|PMID:28008652|PMID:28492532|PMID:28549954|PMID:28830826|PMID:28853495|PMID:29229433|PMID:29242947|PMID:29272047|PMID:29326176|PMID:29334134|PMID:29364557|PMID:29427316|PMID:29473190|PMID:29500833|PMID:29531004|PMID:29753707|PMID:29963685|PMID:30011071|PMID:30194425|PMID:30280950|PMID:30467950|PMID:30549102|PMID:30693469|PMID:30924923|PMID:31001817|PMID:31090061|PMID:31130284|PMID:31167965|PMID:31215591|PMID:31557321|PMID:31578311|PMID:31634165|PMID:31670143|PMID:31670199|PMID:31709745|PMID:31786163|PMID:31930626|PMID:32191290|PMID:32250485|PMID:32383240|PMID:32484238|PMID:32506467|PMID:32537942|PMID:32694622|PMID:32707200|PMID:32946877|PMID:32978145|PMID:33258232|PMID:33274474|PMID:33502061|PMID:33587123|PMID:33796225|PMID:33969388|PMID:33974636|PMID:34008892|PMID:34046686|PMID:34230977|PMID:34286919|PMID:34435747|PMID:34458008|PMID:34543471|PMID:34597860|PMID:34671977|PMID:34674926|PMID:34826142|PMID:34930662|PMID:34948168|PMID:35121199|PMID:35149000|PMID:35222512|PMID:35314946|PMID:35347281|PMID:35432467|PMID:35446444|PMID:35581191|PMID:35598269|PMID:35656234|PMID:35690907|PMID:35779740|PMID:35779741|PMID:35950135|PMID:35979658|PMID:36287101|PMID:36340603|PMID:36385635|PMID:36419915|PMID:36430820|PMID:36578049|PMID:36809127|PMID:36880304|PMID:36964991|PMID:37067131|PMID:37302620|PMID:37556444|PMID:37623260|PMID:37827535|PMID:38237731|PMID:38264431|PMID:38272206|PMID:38368142|PMID:38378365|PMID:38462666|PMID:38484894|PMID:38735484|PMID:38803406|PMID:38820176|PMID:39039807|PMID:39141798|PMID:39167390|PMID:39355753|PMID:40013374|PMID:40025372|PMID:40701620|PMID:5910871|PMID:7695699|PMID:7833933|PMID:8037207|PMID:8170945|PMID:8218237|PMID:8288900|PMID:8592061|PMID:8618004|PMID:8618018|PMID:8618021|PMID:8644729|PMID:8644730|PMID:8752681|PMID:8755915|PMID:8900535|PMID:9042157|PMID:9215684|PMID:9242516|PMID:9284110|PMID:9326325|PMID:9347800|PMID:9375848|PMID:9536098|PMID:9666834|PMID:9668111|PMID:9740253|PMID:9804332|PMID:9856844|PMID:9881948
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:4959	epidermolysis bullosa dystrophica	susceptibility	ISO	RGD:1322869	D	RGD:9068941	20200609	RGD		DNA:insertion-deletion	PMID:8275094|REF_RGD_ID:1600946
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:11000732|PMID:16199547|PMID:16971478|PMID:18951764|PMID:19643583|PMID:19814614|PMID:22266148|PMID:25741868|PMID:28492532|PMID:35979658|PMID:9326325
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:19814614|PMID:25741868|PMID:28492532
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:576	proteinuria		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:19814614|PMID:25741868|PMID:28492532
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:630	genetic disease		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10232408|PMID:10504458|PMID:11710955|PMID:16971478|PMID:17425959|PMID:18414213|PMID:19344236|PMID:19681861|PMID:21448560|PMID:22058051|PMID:22481662|PMID:23786535|PMID:2425097|PMID:24252097|PMID:25741868|PMID:28297147|PMID:28492532|PMID:29963685|PMID:35979658|PMID:37827535|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8752681
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:687	hepatoblastoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	PMID:28492532
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:15509587|PMID:16484981|PMID:16971478|PMID:18450758|PMID:19344236|PMID:21448560|PMID:22058051|PMID:24252097|PMID:25741868|PMID:28492532|PMID:29229433|PMID:7695699|PMID:8218237|PMID:8592061|PMID:9326325
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9000363	Hematuria		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematuria	PMID:10504458|PMID:11710955|PMID:16971478|PMID:17425959|PMID:18414213|PMID:19344236|PMID:21448560|PMID:22058051|PMID:23786535|PMID:2425097|PMID:24252097|PMID:25741868|PMID:28492532|PMID:29963685|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8752681
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9000373	Muscle Cramp		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: muscle cramp	PMID:10383749|PMID:10504458|PMID:16199547|PMID:16971478|PMID:22209565|PMID:24989707|PMID:25741868|PMID:28492532|PMID:29364557
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9000918	Disease Progression		ISO	RGD:1322869	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30381462
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:15509587|PMID:16484981|PMID:16971478|PMID:18450758|PMID:19344236|PMID:21448560|PMID:22058051|PMID:24252097|PMID:25741868|PMID:27899325|PMID:28492532|PMID:29229433|PMID:29753707|PMID:37556444|PMID:38368142|PMID:7695699|PMID:8037207|PMID:8218237|PMID:8592061|PMID:9326325
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9003984	Hyperpigmentation		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperpigmentation	PMID:16971478|PMID:25741868|PMID:27899325|PMID:28492532|PMID:29753707|PMID:37556444|PMID:38368142|PMID:8037207
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9004739	Cicatrix		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scarring	PMID:16971478|PMID:25741868|PMID:27899325|PMID:28492532|PMID:29753707|PMID:37556444|PMID:38368142|PMID:39141798|PMID:8037207
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9005695	Malnutrition		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malnutrition	PMID:16971478|PMID:25741868|PMID:28492532
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9005879	Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant	PMID:10408773|PMID:10504458|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16271705|PMID:16484981|PMID:16965329|PMID:16971478|PMID:17576681|PMID:19344236|PMID:19681861|PMID:20060269|PMID:20598510|PMID:22058051|PMID:22266148|PMID:24033266|PMID:25741868|PMID:25913354|PMID:28492532|PMID:29334134|PMID:31001817|PMID:31930626|PMID:33274474|PMID:33969388|PMID:34230977|PMID:35979658|PMID:38820176|PMID:7695699|PMID:8218237|PMID:8755915|PMID:9536098|PMID:9804332
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9006711	Epidermolysis Bullosa Pruriginosa		ISO	RGD:1322869	D	RGD:7240710	20180130	OMIM			
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9006711	Epidermolysis Bullosa Pruriginosa		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive	PMID:10084325|PMID:10383749|PMID:10408773|PMID:10504458|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15816848|PMID:15888141|PMID:16199547|PMID:16271705|PMID:16484981|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17425959|PMID:17576681|PMID:18440202|PMID:18565177|PMID:19344236|PMID:19665875|PMID:19681861|PMID:19814614|PMID:20060269|PMID:20357813|PMID:20598510|PMID:21182502|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22209565|PMID:22266148|PMID:23237810|PMID:24032424|PMID:24033266|PMID:24947307|PMID:24989707|PMID:25201089|PMID:25741868|PMID:25913354|PMID:26076072|PMID:26102279|PMID:26143532|PMID:26148662|PMID:26446410|PMID:26763448|PMID:27899325|PMID:28492532|PMID:28549954|PMID:29334134|PMID:29364557|PMID:29427316|PMID:29531004|PMID:30467950|PMID:31001817|PMID:31670143|PMID:31930626|PMID:32383240|PMID:32484238|PMID:32707200|PMID:33274474|PMID:33969388|PMID:33974636|PMID:34230977|PMID:34597860|PMID:35979658|PMID:36287101|PMID:38820176|PMID:7695699|PMID:7833933|PMID:8218237|PMID:8755915|PMID:9182828|PMID:9215684|PMID:9242516|PMID:9326325|PMID:9536098|PMID:9740253|PMID:9804332|PMID:9881948
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypoalbuminemia	PMID:10383749|PMID:10504458|PMID:16199547|PMID:16971478|PMID:22209565|PMID:24989707|PMID:25741868|PMID:28492532|PMID:29364557
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9007661	Dwarfism		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16271705|PMID:16971478|PMID:19665875|PMID:25201089|PMID:25741868|PMID:26076072|PMID:26148662|PMID:27899325|PMID:28492532|PMID:28549954|PMID:29753707|PMID:31670143|PMID:32383240|PMID:37556444|PMID:38368142|PMID:8037207|PMID:9881948
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10504458|PMID:11710955|PMID:16971478|PMID:17425959|PMID:18414213|PMID:19344236|PMID:21448560|PMID:22058051|PMID:23786535|PMID:2425097|PMID:24252097|PMID:25741868|PMID:28492532|PMID:29963685|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8752681
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1322869	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1322869	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:12485454|PMID:17576681|PMID:19344236|PMID:22058051|PMID:25741868|PMID:28492532|PMID:31001817|PMID:31930626|PMID:33274474|PMID:33969388|PMID:35979658|PMID:38820176|PMID:7695699|PMID:8218237|PMID:9536098|PMID:9804332
8826247	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9256	colorectal cancer		ISO	RGD:1322869	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8826377	Pgpep1l	pyroglutamyl-peptidase I like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:3052652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8826392	Dcph1	damage control phosphatase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8826392	Dcph1	damage control phosphatase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8826392	Dcph1	damage control phosphatase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1313144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8826392	Dcph1	damage control phosphatase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8826392	Dcph1	damage control phosphatase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8826392	Dcph1	damage control phosphatase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1313144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8826414	Ptchd3	patched domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1603484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8826414	Ptchd3	patched domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8826414	Ptchd3	patched domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8826422	Efcab7	EF-hand calcium binding domain 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8826422	Efcab7	EF-hand calcium binding domain 7	gene	DOID:10534	stomach cancer		ISO	RGD:1603602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8826422	Efcab7	EF-hand calcium binding domain 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1603602	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8826422	Efcab7	EF-hand calcium binding domain 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8826422	Efcab7	EF-hand calcium binding domain 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8826422	Efcab7	EF-hand calcium binding domain 7	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1603602	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	PMID:25741868
8826422	Efcab7	EF-hand calcium binding domain 7	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1603602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8826422	Efcab7	EF-hand calcium binding domain 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8826422	Efcab7	EF-hand calcium binding domain 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8826450	Exoc4	exocyst complex component 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8826450	Exoc4	exocyst complex component 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8826450	Exoc4	exocyst complex component 4	gene	DOID:10534	stomach cancer		ISO	RGD:1353036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8826450	Exoc4	exocyst complex component 4	gene	DOID:1324	lung cancer		ISO	RGD:1353036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8826450	Exoc4	exocyst complex component 4	gene	DOID:1909	melanoma		ISO	RGD:1353036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8826450	Exoc4	exocyst complex component 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1353036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8826450	Exoc4	exocyst complex component 4	gene	DOID:4362	cervical cancer		ISO	RGD:1353036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8826450	Exoc4	exocyst complex component 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1353036	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8826450	Exoc4	exocyst complex component 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826450	Exoc4	exocyst complex component 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8826450	Exoc4	exocyst complex component 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8826450	Exoc4	exocyst complex component 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8826450	Exoc4	exocyst complex component 4	gene	DOID:9009054	Colorectal Cancer 10		ISO	RGD:1353036	D	RGD:8554872	20250527	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer type X	PMID:25741868|PMID:29395620
8826484	Zranb1	zinc finger RANBP2-type containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8826484	Zranb1	zinc finger RANBP2-type containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8826484	Zranb1	zinc finger RANBP2-type containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1318817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8826484	Zranb1	zinc finger RANBP2-type containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1318817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8826484	Zranb1	zinc finger RANBP2-type containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8826508	Pdlim1	PDZ and LIM domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8826508	Pdlim1	PDZ and LIM domain 1	gene	DOID:10534	stomach cancer		ISO	RGD:68448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8826508	Pdlim1	PDZ and LIM domain 1	gene	DOID:1909	melanoma		ISO	RGD:68448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8826508	Pdlim1	PDZ and LIM domain 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:68448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8826508	Pdlim1	PDZ and LIM domain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:68448	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8826508	Pdlim1	PDZ and LIM domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826508	Pdlim1	PDZ and LIM domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8826518	Abhd4	abhydrolase domain containing 4, N-acyl phospholipase B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8826518	Abhd4	abhydrolase domain containing 4, N-acyl phospholipase B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8826518	Abhd4	abhydrolase domain containing 4, N-acyl phospholipase B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8826518	Abhd4	abhydrolase domain containing 4, N-acyl phospholipase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826518	Abhd4	abhydrolase domain containing 4, N-acyl phospholipase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8826518	Abhd4	abhydrolase domain containing 4, N-acyl phospholipase B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8826539	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
8826539	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8826539	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:0111263	combined malonic and methylmalonic acidemia		ISO	RGD:1604214	D	RGD:7240710	20180130	OMIM			
8826539	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:0111263	combined malonic and methylmalonic acidemia		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ACSF3-related disorder | ClinVar Annotator: match by term: COMBINED MALONIC AND METHYLMALONIC ACIDURIA | ClinVar Annotator: match by term: Combined malonic and methylmalonic acidemia | ClinVar Annotator: match by term: Combined malonic and methylmalonic aciduria	PMID:16199547|PMID:17576681|PMID:21785126|PMID:21841779|PMID:22421630|PMID:25640679|PMID:25741868|PMID:26827111|PMID:26915364|PMID:28492532|PMID:28924877|PMID:29144512|PMID:29555771|PMID:29858964|PMID:30041674|PMID:30487145|PMID:30609409|PMID:30642647|PMID:30740739|PMID:31376476|PMID:31462756|PMID:31589614|PMID:31980526|PMID:32327331|PMID:32944792|PMID:32980267|PMID:33223529|PMID:33625768|PMID:33879512|PMID:34426522|PMID:34440436|PMID:34900860|PMID:36413997|PMID:36717752|PMID:36978159|PMID:38536866|PMID:39581258|PMID:9030548|PMID:9536098
8826539	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8826539	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8826539	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8826539	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1604214	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Isolated Methylmalonic Acidemia | ClinVar Annotator: match by term: Methylmalonic acidemia	PMID:21785126|PMID:21841779|PMID:22421630|PMID:25741868|PMID:26827111|PMID:28492532|PMID:29144512|PMID:29858964|PMID:30041674|PMID:30740739|PMID:31376476|PMID:39581258|PMID:9030548
8826539	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:3275	thymoma		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8826539	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8826539	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1604214	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8826539	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826539	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:630	genetic disease		ISO	RGD:1604214	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21785126|PMID:21841779|PMID:22421630|PMID:25741868|PMID:28492532|PMID:29144512|PMID:29858964|PMID:30740739|PMID:31376476|PMID:39581258|PMID:9030548
8826539	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8826539	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:9005126	Malonic Aciduria		ISO	RGD:1604214	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21841779
8826539	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8826539	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:25741868|PMID:28492532
8826539	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8826553	Eif4enif1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8826553	Eif4enif1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8826553	Eif4enif1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8826553	Eif4enif1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8826553	Eif4enif1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320332	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8826553	Eif4enif1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826553	Eif4enif1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8826553	Eif4enif1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8826553	Eif4enif1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8826553	Eif4enif1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8826588	Rgs4	regulator of G protein signaling 4	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:70082	D	RGD:9068941	20250301	RGD		DNA:SNPs,haplotypes:multiple	PMID:20430014|REF_RGD_ID:597830074
8826588	Rgs4	regulator of G protein signaling 4	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:70083	D	RGD:9068941	20200609	RGD			PMID:25844489|REF_RGD_ID:13524517
8826588	Rgs4	regulator of G protein signaling 4	gene	DOID:10763	hypertension	treatment	ISO	RGD:3567	D	RGD:9068941	20200609	RGD			PMID:21825230|REF_RGD_ID:7207400
8826588	Rgs4	regulator of G protein signaling 4	gene	DOID:11206	opioid abuse		ISO	RGD:3567	D	RGD:9068941	20200609	RGD			PMID:22056472|REF_RGD_ID:13524518
8826588	Rgs4	regulator of G protein signaling 4	gene	DOID:12528	lesion of sciatic nerve		ISO	RGD:3567	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:dorsal root ganglion	PMID:14550772|REF_RGD_ID:13524539
8826588	Rgs4	regulator of G protein signaling 4	gene	DOID:1324	lung cancer		ISO	RGD:70082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8826588	Rgs4	regulator of G protein signaling 4	gene	DOID:1824	status epilepticus		ISO	RGD:3567	D	RGD:9068941	20200609	RGD			PMID:19126440|REF_RGD_ID:13524534
8826588	Rgs4	regulator of G protein signaling 4	gene	DOID:1826	epilepsy	treatment	ISO	RGD:3567	D	RGD:9068941	20200609	RGD			PMID:28320185|REF_RGD_ID:13524511
8826588	Rgs4	regulator of G protein signaling 4	gene	DOID:289	endometriosis		ISO	RGD:70082	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
8826588	Rgs4	regulator of G protein signaling 4	gene	DOID:365	bladder disease	treatment	ISO	RGD:3567	D	RGD:9068941	20200609	RGD		associated with hypertension	PMID:19689474|REF_RGD_ID:9684972
8826588	Rgs4	regulator of G protein signaling 4	gene	DOID:4362	cervical cancer		ISO	RGD:70082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8826588	Rgs4	regulator of G protein signaling 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:70082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8826588	Rgs4	regulator of G protein signaling 4	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:70082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8826588	Rgs4	regulator of G protein signaling 4	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:3567	D	RGD:9068941	20200609	RGD		associated with lesion of sciatic nerve	PMID:27641322|REF_RGD_ID:13524513
8826588	Rgs4	regulator of G protein signaling 4	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:70082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8826588	Rgs4	regulator of G protein signaling 4	gene	DOID:9007090	Experimental Seizures		ISO	RGD:3567	D	RGD:9068941	20200609	RGD			PMID:12358788|REF_RGD_ID:13524540
8826588	Rgs4	regulator of G protein signaling 4	gene	DOID:9008394	Drug-Induced Dyskinesia	treatment	ISO	RGD:3567	D	RGD:9068941	20200609	RGD		associated with Parkinsonian Disorders	PMID:24969021|REF_RGD_ID:13524515
8826609	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8826609	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:10534	stomach cancer		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8826609	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8826609	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:1115	sarcoma		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8826609	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:1324	lung cancer		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8826609	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8826609	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8826609	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:4362	cervical cancer		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8826609	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826609	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8826609	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8826609	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8826609	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8826609	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8826626	LOC102010789	histone H1.0	gene	DOID:0080600	COVID-19		ISO	RGD:736127	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8826626	LOC102010789	histone H1.0	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736127	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
8826682	Zic4	Zic family zinc finger 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8826682	Zic4	Zic family zinc finger 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8826682	Zic4	Zic family zinc finger 4	gene	DOID:1115	sarcoma		ISO	RGD:1316409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8826682	Zic4	Zic family zinc finger 4	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1316410	D	RGD:9068941	20220825	MouseDO		OMIM:220200	
8826682	Zic4	Zic family zinc finger 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1316409	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8826682	Zic4	Zic family zinc finger 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826682	Zic4	Zic family zinc finger 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8826691	Aspdh	aspartate dehydrogenase domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1312517	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Xeroderma pigmentosum	PMID:25741868|PMID:27607234|PMID:28492532|PMID:37364129|PMID:9580660
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0050453	lissencephaly		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pachygyria	PMID:17183314|PMID:25741868|PMID:26074087|PMID:28492532
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0060590	XFE progeroid syndrome		ISO	RGD:1312517	D	RGD:7240710	20180130	OMIM			
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0060590	XFE progeroid syndrome		ISO	RGD:1312517	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: XFE PROGEROID SYNDROME | ClinVar Annotator: match by term: XFE progeroid syndrome | ClinVar Annotator: match by term: XPF-ERCC1 PROGEROID SYNDROME	PMID:17183314|PMID:20221251|PMID:23623386|PMID:23623389|PMID:24027083|PMID:24412486|PMID:25741868|PMID:26074087|PMID:26136524|PMID:28292785|PMID:28492532|PMID:28878254|PMID:29403087|PMID:29892709|PMID:30165384|PMID:30658521|PMID:8797827|PMID:9579555
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia	PMID:23623386|PMID:25741868|PMID:28492532|PMID:9580660
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0110848	xeroderma pigmentosum group F		ISO	RGD:1312517	D	RGD:7240710	20180130	OMIM			
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0110848	xeroderma pigmentosum group F		ISO	RGD:1312517	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM, TYPE F | ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME | ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group f | ClinVar Annotator: match by term: Xeroderma pigmentosum, group F	PMID:17183314|PMID:20221251|PMID:21612988|PMID:23623386|PMID:23623389|PMID:24027083|PMID:24412486|PMID:25741868|PMID:26074087|PMID:26136524|PMID:26453996|PMID:26884178|PMID:28292785|PMID:28492532|PMID:28767289|PMID:28878254|PMID:29325523|PMID:29403087|PMID:29625052|PMID:29753700|PMID:29892709|PMID:30165384|PMID:30658521|PMID:32191290|PMID:32487094|PMID:39279228|PMID:39400928|PMID:8797827|PMID:9579555|PMID:9580660
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0111093	Fanconi anemia complementation group Q		ISO	RGD:1312517	D	RGD:7240710	20180130	OMIM			
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0111093	Fanconi anemia complementation group Q		ISO	RGD:1312517	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP Q | ClinVar Annotator: match by term: Fanconi anemia complementation group Q	PMID:17183314|PMID:20221251|PMID:23623386|PMID:23623389|PMID:24027083|PMID:24412486|PMID:25741868|PMID:26074087|PMID:26136524|PMID:28292785|PMID:28492532|PMID:28767289|PMID:28878254|PMID:29403087|PMID:29625052|PMID:29892709|PMID:30165384|PMID:30658521|PMID:32191290|PMID:32487094|PMID:36816046|PMID:37536918|PMID:39279228|PMID:39400928|PMID:8797827|PMID:9579555|PMID:9580660
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1312517	D	RGD:9068941	20221006	RGD		mRNA:increased expression:stomach (human)	PMID:30417012|REF_RGD_ID:155260342
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:17183314|PMID:25741868|PMID:26074087|PMID:28492532
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:10907	microcephaly		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:17183314|PMID:25741868|PMID:26074087|PMID:28492532|PMID:28767289
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20062074
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:11836	clubfoot		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:17183314|PMID:25741868|PMID:26074087|PMID:28492532
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:14184	polyneuropathy due to drug	treatment	ISO	RGD:1312517	D	RGD:9068941	20221006	RGD		associated with colorectal cancer;DNA:missense mutations:CDS:p.P379S, p.E875G (rs1799802, rs1800124) (human)	PMID:35135151|REF_RGD_ID:155260345
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1312517	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25741868|PMID:35101336
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:1793	pancreatic cancer		ISO	RGD:1312517	D	RGD:9068941	20200609	RGD		pancreatic adenocarcinoma;DNA:SNP: :rs1800067(human)	PMID:18544627|REF_RGD_ID:2317223
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:1909	melanoma		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:2394	ovarian cancer		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1312517	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Progeroid nanism	PMID:15159313|PMID:15886521|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29325523|PMID:29403087|PMID:29892709|PMID:30165384|PMID:31692161|PMID:32008151|PMID:32659497|PMID:32756499|PMID:8797827|PMID:9485007|PMID:9579555
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1312517	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cockayne syndrome	PMID:16199547|PMID:17183314|PMID:17576681|PMID:20221251|PMID:21612988|PMID:23623386|PMID:23623389|PMID:24027083|PMID:24412486|PMID:25741868|PMID:26074087|PMID:26136524|PMID:26453996|PMID:27356891|PMID:27528516|PMID:28292785|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28878254|PMID:29105242|PMID:29325523|PMID:29403087|PMID:29625052|PMID:29892709|PMID:30165384|PMID:30658521|PMID:32034146|PMID:32191290|PMID:32487094|PMID:32868804|PMID:33084842|PMID:35171259|PMID:35477182|PMID:36139606|PMID:39279228|PMID:39400928|PMID:8797827|PMID:9536098|PMID:9579555|PMID:9580660
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1312517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864405
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:630	genetic disease		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:32487094
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:17183314|PMID:25741868|PMID:26074087|PMID:28492532
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1312517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24036326
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:1312517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19956886
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1312517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20372803
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1312517	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:17183314|PMID:25741868|PMID:26074087|PMID:28492532
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9002801	Recurrence		ISO	RGD:1312517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20062074
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9004207	Testicular Neoplasms		ISO	RGD:1312517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19956886
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:17183314|PMID:25741868|PMID:26074087|PMID:28492532
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:1560340	D	RGD:9068941	20200609	RGD			PMID:22228707|REF_RGD_ID:7296926
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:1312517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21216194|PMID:24036326
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1312517	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:15159313|PMID:15886521|PMID:18767034|PMID:20221251|PMID:23407396|PMID:24004570|PMID:24465539|PMID:24728327|PMID:25741868|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:31692161|PMID:32008151|PMID:32659497|PMID:32756499|PMID:34117267|PMID:9485007
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1312517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12569548
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8826709	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1312517	D	RGD:9068941	20221006	RGD		mRNA:increased expression:colorectum (human)	PMID:16951227|REF_RGD_ID:155260343
8826727	Serping1	serpin family G member 1	gene	DOID:0060002	C1 inhibitor deficiency		ISO	RGD:1344082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: C1 esterase inhibitor deficiency | ClinVar Annotator: match by term: C1 inhibitor deficiency	PMID:11112899|PMID:12402344|PMID:1451784|PMID:14635117|PMID:14714307|PMID:15971231|PMID:16199547|PMID:18586324|PMID:18758157|PMID:22994404|PMID:23437219|PMID:2365061|PMID:24456027|PMID:25258140|PMID:2563376|PMID:25741868|PMID:26812872|PMID:28302171|PMID:28492532|PMID:29753808|PMID:30278448|PMID:30556912|PMID:30847342|PMID:3178731|PMID:32896191|PMID:33220126|PMID:33292549|PMID:7814636|PMID:8755917
8826727	Serping1	serpin family G member 1	gene	DOID:0080162	lupus nephritis		ISO	RGD:1344082	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:4014294
8826727	Serping1	serpin family G member 1	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1344082	D	RGD:9068941	20200813	RGD		DNA:SNP: :	PMID:32747830|REF_RGD_ID:38500238
8826727	Serping1	serpin family G member 1	gene	DOID:0080939	hereditary angioedema type I		ISO	RGD:1344082	D	RGD:7240710	20180418	OMIM			
8826727	Serping1	serpin family G member 1	gene	DOID:0080939	hereditary angioedema type I		ISO	RGD:1344082	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor | ClinVar Annotator: match by term: Hereditary angioedema type 1 | ClinVar Annotator: match by term: Hereditary angioedema types I and II | ClinVar Annotator: match by term: Hereditary angioedema with C1Inh deficiency | ClinVar Annotator: match by term: SERPING1-related condition	PMID:10719305|PMID:11112899|PMID:12402344|PMID:1451784|PMID:14635117|PMID:15971231|PMID:16199547|PMID:16470590|PMID:18535392|PMID:18586324|PMID:18758157|PMID:19201015|PMID:2026621|PMID:20804470|PMID:20864152|PMID:21832835|PMID:21934598|PMID:22994404|PMID:23123409|PMID:23437219|PMID:2365061|PMID:24033266|PMID:24456027|PMID:25258140|PMID:25369003|PMID:2563376|PMID:25741868|PMID:26535898|PMID:26812872|PMID:28194776|PMID:28359783|PMID:28492532|PMID:29343682|PMID:29753808|PMID:30278448|PMID:30398465|PMID:30508583|PMID:30556912|PMID:30847342|PMID:31517426|PMID:31690390|PMID:3178731|PMID:31959500|PMID:31982983|PMID:32065705|PMID:32445210|PMID:33034800|PMID:33292549|PMID:34426522|PMID:34782094|PMID:35821062|PMID:37301409|PMID:37620742|PMID:7814636|PMID:8755917
8826727	Serping1	serpin family G member 1	gene	DOID:0080941	acquired angioedema		ISO	RGD:1344082	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:23406939|PMID:9734886
8826727	Serping1	serpin family G member 1	gene	DOID:14115	toxic shock syndrome	treatment	ISO	RGD:1344082	D	RGD:9068941	20200609	RGD			PMID:8172580|REF_RGD_ID:8661646
8826727	Serping1	serpin family G member 1	gene	DOID:14735	hereditary angioedema		ISO	RGD:1344082	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:19477491|PMID:23406939|PMID:23634741|PMID:23844784|PMID:23866957|PMID:9734886
8826727	Serping1	serpin family G member 1	gene	DOID:14735	hereditary angioedema		ISO	RGD:1344082	D	RGD:9068941	20260604	RGD			PMID:15356570|REF_RGD_ID:8661260
8826727	Serping1	serpin family G member 1	gene	DOID:14735	hereditary angioedema	treatment	ISO	RGD:1344082	D	RGD:9068941	20200609	RGD			PMID:22800873|REF_RGD_ID:8661265
8826727	Serping1	serpin family G member 1	gene	DOID:1558	angioedema		ISO	RGD:1344082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angioedema	PMID:12402344|PMID:1451784|PMID:14635117|PMID:15971231|PMID:18586324|PMID:18758157|PMID:21864911|PMID:23437219|PMID:2365061|PMID:2563376|PMID:25741868|PMID:26535898|PMID:26812872|PMID:28492532|PMID:29753808|PMID:30556912|PMID:3178731|PMID:9069585
8826727	Serping1	serpin family G member 1	gene	DOID:1558	angioedema	susceptibility	ISO	RGD:1344082	D	RGD:9068941	20200609	RGD		DNA:mutations:exon	PMID:12402344|REF_RGD_ID:1600545
8826727	Serping1	serpin family G member 1	gene	DOID:3068	glioblastoma	treatment	ISO	RGD:735225	D	RGD:9068941	20200609	RGD			PMID:28880870|REF_RGD_ID:13525003
8826727	Serping1	serpin family G member 1	gene	DOID:3526	cerebral infarction	treatment	ISO	RGD:1344082	D	RGD:9068941	20200609	RGD		associated with Venous Thrombosis	PMID:10446335|REF_RGD_ID:8661653
8826727	Serping1	serpin family G member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1344082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8826727	Serping1	serpin family G member 1	gene	DOID:4448	macular degeneration		ISO	RGD:1344082	D	RGD:9068941	20200609	RGD			PMID:21852020|REF_RGD_ID:8661263
8826727	Serping1	serpin family G member 1	gene	DOID:4448	macular degeneration		ISO	RGD:1344082	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype:intron:c.1030-865C>T (rs2511989) (human)	PMID:20576771|REF_RGD_ID:8661638
8826727	Serping1	serpin family G member 1	gene	DOID:4448	macular degeneration	no_association	ISO	RGD:1344082	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype:intron:c.1030-865C>T (rs2511989) (human)	PMID:21526158|REF_RGD_ID:8661639
8826727	Serping1	serpin family G member 1	gene	DOID:4448	macular degeneration	no_association	ISO	RGD:1344082	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:c.1029+312T>C (rs11603020) (human)	PMID:20606025|REF_RGD_ID:8661640
8826727	Serping1	serpin family G member 1	gene	DOID:4448	macular degeneration	no_association	ISO	RGD:1344082	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:19169411|REF_RGD_ID:8661264
8826727	Serping1	serpin family G member 1	gene	DOID:4448	macular degeneration	susceptibility	ISO	RGD:1344082	D	RGD:9068941	20200609	RGD		DNA:SNPs:introns:c.52-130C>T, c.1030-865C>T (rs1005510, rs2511989) (human)	PMID:20606025|REF_RGD_ID:8661640
8826727	Serping1	serpin family G member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8826727	Serping1	serpin family G member 1	gene	DOID:4989	pancreatitis	treatment	ISO	RGD:1344082	D	RGD:9068941	20200609	RGD			PMID:9176084|REF_RGD_ID:8661649
8826727	Serping1	serpin family G member 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1344082	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26396155
8826727	Serping1	serpin family G member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826727	Serping1	serpin family G member 1	gene	DOID:630	genetic disease		ISO	RGD:1344082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12402344|PMID:1451784|PMID:14635117|PMID:15971231|PMID:16470590|PMID:17576681|PMID:18586324|PMID:18758157|PMID:21864911|PMID:23123409|PMID:23437219|PMID:2365061|PMID:24033266|PMID:24456027|PMID:2563376|PMID:25741868|PMID:26535898|PMID:26812872|PMID:28492532|PMID:29753808|PMID:30556912|PMID:3178731|PMID:35821062|PMID:3756141|PMID:8125476|PMID:9536098
8826727	Serping1	serpin family G member 1	gene	DOID:898	autosomal dominant polycystic kidney disease	disease_progression	ISO	RGD:1344082	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:24494798|REF_RGD_ID:8661641
8826727	Serping1	serpin family G member 1	gene	DOID:9000113	Pneumococcal Meningitis	treatment	ISO	RGD:1344082	D	RGD:9068941	20200609	RGD			PMID:17538891|REF_RGD_ID:8661645
8826727	Serping1	serpin family G member 1	gene	DOID:9000728	Traumatic Shock	treatment	ISO	RGD:1344082	D	RGD:9068941	20200609	RGD			PMID:9377162|REF_RGD_ID:8661648
8826727	Serping1	serpin family G member 1	gene	DOID:9001488	Human Influenza		ISO	RGD:1344082	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
8826727	Serping1	serpin family G member 1	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:1344082	D	RGD:9068941	20200609	RGD			PMID:16367929|REF_RGD_ID:1580273
8826727	Serping1	serpin family G member 1	gene	DOID:9002625	Complement Component 4, Partial Deficiency Of		ISO	RGD:1344082	D	RGD:7240710	20180130	OMIM			
8826727	Serping1	serpin family G member 1	gene	DOID:9002625	Complement Component 4, Partial Deficiency Of		ISO	RGD:1344082	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	PMID:28492532|PMID:6480834|PMID:7883978
8826727	Serping1	serpin family G member 1	gene	DOID:9003104	Intracranial Hemorrhages	treatment	ISO	RGD:1344082	D	RGD:9068941	20200609	RGD		associated with Stroke	PMID:21779364|REF_RGD_ID:6484131
8826727	Serping1	serpin family G member 1	gene	DOID:9004009	Reperfusion Injury	treatment	ISO	RGD:1344082	D	RGD:9068941	20200609	RGD			PMID:23991040|REF_RGD_ID:8661644
8826727	Serping1	serpin family G member 1	gene	DOID:9004347	Skeletal Muscle Reperfusion Injury	treatment	ISO	RGD:1344082	D	RGD:9068941	20200609	RGD			PMID:24585935|PMID:29395422|REF_RGD_ID:13525001|REF_RGD_ID:13542089
8826727	Serping1	serpin family G member 1	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:1344082	D	RGD:9068941	20200609	RGD			PMID:11685347|REF_RGD_ID:8661650
8826727	Serping1	serpin family G member 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1344082	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
8826727	Serping1	serpin family G member 1	gene	DOID:9005372	Inflammation	treatment	ISO	RGD:1344082	D	RGD:9068941	20200609	RGD		associated with Myocardial Infarction	PMID:27153875|REF_RGD_ID:13525005
8826727	Serping1	serpin family G member 1	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:1344082	D	RGD:9068941	20200609	RGD			PMID:18652771|REF_RGD_ID:8661643
8826727	Serping1	serpin family G member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8826727	Serping1	serpin family G member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1344082	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
8826727	Serping1	serpin family G member 1	gene	DOID:9007558	Acute Experimental Pancreatitis		ISO	RGD:735225	D	RGD:9068941	20241212	RGD		protein:decreased expression:plasma	PMID:10360224|REF_RGD_ID:8661651
8826727	Serping1	serpin family G member 1	gene	DOID:9007730	Burns	treatment	ISO	RGD:1344082	D	RGD:9068941	20200609	RGD			PMID:22447201|REF_RGD_ID:6903314
8826727	Serping1	serpin family G member 1	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:1344082	D	RGD:9068941	20200609	RGD			PMID:16942749|REF_RGD_ID:8661647
8826727	Serping1	serpin family G member 1	gene	DOID:9408	acute myocardial infarction		ISO	RGD:1344082	D	RGD:9068941	20200609	RGD			PMID:26476955|REF_RGD_ID:11552746
8826727	Serping1	serpin family G member 1	gene	DOID:9408	acute myocardial infarction		ISO	RGD:735225	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:26476955|REF_RGD_ID:11552746
8826759	Adck1	aarF domain containing kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8826759	Adck1	aarF domain containing kinase 1	gene	DOID:0060058	lymphoma		ISO	RGD:1317936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8826759	Adck1	aarF domain containing kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8826759	Adck1	aarF domain containing kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1317936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8826759	Adck1	aarF domain containing kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8826759	Adck1	aarF domain containing kinase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8826759	Adck1	aarF domain containing kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826759	Adck1	aarF domain containing kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8826759	Adck1	aarF domain containing kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8826804	Uspl1	ubiquitin specific peptidase like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8826804	Uspl1	ubiquitin specific peptidase like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8826804	Uspl1	ubiquitin specific peptidase like 1	gene	DOID:1909	melanoma		ISO	RGD:1321964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8826804	Uspl1	ubiquitin specific peptidase like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8826804	Uspl1	ubiquitin specific peptidase like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8826804	Uspl1	ubiquitin specific peptidase like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826804	Uspl1	ubiquitin specific peptidase like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8826804	Uspl1	ubiquitin specific peptidase like 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1321964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8826820	Gemin8	gem nuclear organelle associated protein 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8826820	Gemin8	gem nuclear organelle associated protein 8	gene	DOID:1115	sarcoma		ISO	RGD:1343150	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8826820	Gemin8	gem nuclear organelle associated protein 8	gene	DOID:1324	lung cancer		ISO	RGD:1343150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8826820	Gemin8	gem nuclear organelle associated protein 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826820	Gemin8	gem nuclear organelle associated protein 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8826820	Gemin8	gem nuclear organelle associated protein 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8826828	Nrxn3	neurexin 3	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1353595	D	RGD:9068941	20240321	RGD		DNA:SNP,haplotype:Chr14:rs8019381, rs760288|rs8019381|2rs2293847 (human)	PMID:17804423|REF_RGD_ID:405096431
8826828	Nrxn3	neurexin 3	gene	DOID:0050742	nicotine dependence		ISO	RGD:1353595	D	RGD:9068941	20240321	RGD		DNA:polymorphisms:cds:(rs199840331, p.Y234), p.G696, p.T99P (human)	PMID:25450229|REF_RGD_ID:11526246
8826828	Nrxn3	neurexin 3	gene	DOID:0050742	nicotine dependence	ameliorates	ISO	RGD:1353595	D	RGD:9068941	20240314	RGD		DNA:SNP, haplotype: :rs1424850|rs221497|rs221473 (human)	PMID:22716474|REF_RGD_ID:402528880
8826828	Nrxn3	neurexin 3	gene	DOID:0050742	nicotine dependence	severity	ISO	RGD:1353595	D	RGD:9068941	20240321	RGD		associated with schizophrenia;DNA:SNP:exon 5 (rs1004212) (human)	PMID:19658047|REF_RGD_ID:405096432
8826828	Nrxn3	neurexin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8826828	Nrxn3	neurexin 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1353595	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8826828	Nrxn3	neurexin 3	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	
8826828	Nrxn3	neurexin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8826828	Nrxn3	neurexin 3	gene	DOID:1059	intellectual disability		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8826828	Nrxn3	neurexin 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8826828	Nrxn3	neurexin 3	gene	DOID:12849	autistic disorder		ISO	RGD:1353595	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	
8826828	Nrxn3	neurexin 3	gene	DOID:1324	lung cancer		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8826828	Nrxn3	neurexin 3	gene	DOID:14261	fragile X syndrome		ISO	RGD:1553035	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hippocampus,somatosendory cortex	PMID:26235839|REF_RGD_ID:11554325
8826828	Nrxn3	neurexin 3	gene	DOID:1826	epilepsy		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8826828	Nrxn3	neurexin 3	gene	DOID:2030	anxiety disorder		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
8826828	Nrxn3	neurexin 3	gene	DOID:2340	craniosynostosis		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	
8826828	Nrxn3	neurexin 3	gene	DOID:303	substance-related disorder		ISO	RGD:1353595	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
8826828	Nrxn3	neurexin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826828	Nrxn3	neurexin 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8826828	Nrxn3	neurexin 3	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8826828	Nrxn3	neurexin 3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8826828	Nrxn3	neurexin 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
8826828	Nrxn3	neurexin 3	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
8826828	Nrxn3	neurexin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8826828	Nrxn3	neurexin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8826879	Znf367	zinc finger protein 367	gene	DOID:0080909	castration-resistant prostate carcinoma		ISO	RGD:1316151	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29581250
8826879	Znf367	zinc finger protein 367	gene	DOID:1909	melanoma		ISO	RGD:1316151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8826879	Znf367	zinc finger protein 367	gene	DOID:6039	uveal melanoma		ISO	RGD:1316151	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8826879	Znf367	zinc finger protein 367	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1316151	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:34351699
8826879	Znf367	zinc finger protein 367	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8826879	Znf367	zinc finger protein 367	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1316151	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:34351699
8826894	Pglyrp1	peptidoglycan recognition protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8826894	Pglyrp1	peptidoglycan recognition protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826894	Pglyrp1	peptidoglycan recognition protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8826894	Pglyrp1	peptidoglycan recognition protein 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:1351704	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21549006
8826894	Pglyrp1	peptidoglycan recognition protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8826901	Spata6l	spermatogenesis associated 6 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8826901	Spata6l	spermatogenesis associated 6 like	gene	DOID:10534	stomach cancer		ISO	RGD:1320709	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8826901	Spata6l	spermatogenesis associated 6 like	gene	DOID:1115	sarcoma		ISO	RGD:1320709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8826901	Spata6l	spermatogenesis associated 6 like	gene	DOID:1909	melanoma		ISO	RGD:1320709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8826901	Spata6l	spermatogenesis associated 6 like	gene	DOID:2394	ovarian cancer		ISO	RGD:1320709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8826901	Spata6l	spermatogenesis associated 6 like	gene	DOID:3275	thymoma		ISO	RGD:1320709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8826901	Spata6l	spermatogenesis associated 6 like	gene	DOID:4362	cervical cancer		ISO	RGD:1320709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8826901	Spata6l	spermatogenesis associated 6 like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8826901	Spata6l	spermatogenesis associated 6 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1320709	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8826901	Spata6l	spermatogenesis associated 6 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826901	Spata6l	spermatogenesis associated 6 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8826901	Spata6l	spermatogenesis associated 6 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8826901	Spata6l	spermatogenesis associated 6 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8826937	Ankrd12	ankyrin repeat domain 12	gene	DOID:10283	prostate cancer		ISO	RGD:1320836	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
8826937	Ankrd12	ankyrin repeat domain 12	gene	DOID:1909	melanoma		ISO	RGD:1320836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8826937	Ankrd12	ankyrin repeat domain 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8826937	Ankrd12	ankyrin repeat domain 12	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8826937	Ankrd12	ankyrin repeat domain 12	gene	DOID:4362	cervical cancer		ISO	RGD:1320836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8826937	Ankrd12	ankyrin repeat domain 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1320836	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8826937	Ankrd12	ankyrin repeat domain 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826937	Ankrd12	ankyrin repeat domain 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8826937	Ankrd12	ankyrin repeat domain 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8826937	Ankrd12	ankyrin repeat domain 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8826937	Ankrd12	ankyrin repeat domain 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8826937	Ankrd12	ankyrin repeat domain 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8826960	Calhm4	calcium homeostasis modulator family member 4	gene	DOID:1826	epilepsy		ISO	RGD:1314099	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Epilepsy	
8826970	Cog8	component of oligomeric golgi complex 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8826970	Cog8	component of oligomeric golgi complex 8	gene	DOID:0070260	congenital disorder of glycosylation type IIh		ISO	RGD:1316049	D	RGD:7240710	20180130	OMIM			
8826970	Cog8	component of oligomeric golgi complex 8	gene	DOID:0070260	congenital disorder of glycosylation type IIh		ISO	RGD:1316049	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COG8-CDG | ClinVar Annotator: match by term: COG8-related condition | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2H	PMID:17331980|PMID:21811164|PMID:25741868|PMID:28492532
8826970	Cog8	component of oligomeric golgi complex 8	gene	DOID:1059	intellectual disability		ISO	RGD:1316049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8826970	Cog8	component of oligomeric golgi complex 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8826970	Cog8	component of oligomeric golgi complex 8	gene	DOID:1115	sarcoma		ISO	RGD:1316049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8826970	Cog8	component of oligomeric golgi complex 8	gene	DOID:3070	high grade glioma		ISO	RGD:1316049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8826970	Cog8	component of oligomeric golgi complex 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8826970	Cog8	component of oligomeric golgi complex 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8826970	Cog8	component of oligomeric golgi complex 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8826970	Cog8	component of oligomeric golgi complex 8	gene	DOID:630	genetic disease		ISO	RGD:1316049	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8826970	Cog8	component of oligomeric golgi complex 8	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
8826970	Cog8	component of oligomeric golgi complex 8	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8826970	Cog8	component of oligomeric golgi complex 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8827000	Slc17a1	solute carrier family 17 member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8827000	Slc17a1	solute carrier family 17 member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8827000	Slc17a1	solute carrier family 17 member 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350724	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980|PMID:25380136
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1603007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31209396
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:0060249	scoliosis		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:22424600|PMID:23086778|PMID:25741868|PMID:28492532
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:0080600	COVID-19		ISO	RGD:1603007	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:0111668	Kohlschutter-Tonz syndrome		ISO	RGD:1603007	D	RGD:7240710	20180130	OMIM			
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:0111668	Kohlschutter-Tonz syndrome		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar Annotator: match by term: KOHLSCHUTTER-TONZ SYNDROME | ClinVar Annotator: match by term: Kohlschutter syndrome	PMID:16199547|PMID:17576681|PMID:22424600|PMID:22482807|PMID:23086778|PMID:24630287|PMID:25565929|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28638151|PMID:29153277|PMID:33528079|PMID:33866847|PMID:37228816|PMID:37974187|PMID:9536098
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:10534	stomach cancer		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:17576681|PMID:22424600|PMID:25741868|PMID:28492532|PMID:28638151|PMID:37974187|PMID:9536098
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:1059	intellectual disability		ISO	RGD:1603007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:16411202|PMID:22424600|PMID:23086778|PMID:25741868|PMID:28492532
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:1059	intellectual disability		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:22424600|PMID:23086778|PMID:25741868|PMID:28492532
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:10907	microcephaly		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:22424600|PMID:23086778|PMID:25741868|PMID:28492532
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:1826	epilepsy		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22424600|PMID:23086778|PMID:25741868|PMID:28492532
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:1909	melanoma		ISO	RGD:1603007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:1933	Rubinstein-Taybi syndrome		ISO	RGD:1603007	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation	PMID:12114483|PMID:17855048|PMID:25805166|PMID:27257017|PMID:28492532
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:2234	focal epilepsy		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:22424600|PMID:23086778|PMID:25741868|PMID:28492532
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:4362	cervical cancer		ISO	RGD:1603007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:5041	esophageal cancer		ISO	RGD:1603007	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:630	genetic disease		ISO	RGD:1603007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:9000343	Vision Disorders		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:22424600|PMID:23086778|PMID:25741868|PMID:28492532
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1603007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868|PMID:28492532
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:22424600|PMID:23086778|PMID:25741868|PMID:28492532
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:9007661	Dwarfism		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:22424600|PMID:23086778|PMID:25741868|PMID:28492532
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22424600|PMID:23086778|PMID:25741868|PMID:28492532
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8827026	Rogdi	rogdi atypical leucine zipper	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:22424600|PMID:23086778|PMID:25741868|PMID:28492532
8827041	Rac2	Rac family small GTPase 2	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1316839	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26457648
8827041	Rac2	Rac family small GTPase 2	gene	DOID:0060058	lymphoma		ISO	RGD:1316839	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19783987
8827041	Rac2	Rac family small GTPase 2	gene	DOID:0112061	immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia		ISO	RGD:1316839	D	RGD:7240710	20200902	OMIM			
8827041	Rac2	Rac family small GTPase 2	gene	DOID:0112061	immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia		ISO	RGD:1316839	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA | ClinVar Annotator: match by term: Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	PMID:25741868|PMID:28492532|PMID:30654050|PMID:38194689
8827041	Rac2	Rac family small GTPase 2	gene	DOID:0112062	immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia		ISO	RGD:1316839	D	RGD:7240710	20200902	OMIM			
8827041	Rac2	Rac family small GTPase 2	gene	DOID:0112062	immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia		ISO	RGD:1316839	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	PMID:25741868|PMID:28492532
8827041	Rac2	Rac family small GTPase 2	gene	DOID:0112064	immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis		ISO	RGD:1316839	D	RGD:7240710	20180130	OMIM			
8827041	Rac2	Rac family small GTPase 2	gene	DOID:0112064	immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis		ISO	RGD:1316839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS | ClinVar Annotator: match by term: Neutrophil immunodeficiency syndrome	PMID:10758162|PMID:10961859|PMID:11278678|PMID:14676277|PMID:17576681|PMID:21167572|PMID:25741868|PMID:28492532|PMID:33188496|PMID:36459342|PMID:9536098
8827041	Rac2	Rac family small GTPase 2	gene	DOID:10283	prostate cancer		ISO	RGD:1316839	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8827041	Rac2	Rac family small GTPase 2	gene	DOID:10283	prostate cancer		ISO	RGD:1316839	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8827041	Rac2	Rac family small GTPase 2	gene	DOID:1115	sarcoma		ISO	RGD:1316839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8827041	Rac2	Rac family small GTPase 2	gene	DOID:114	heart disease		ISO	RGD:1316839	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16330681
8827041	Rac2	Rac family small GTPase 2	gene	DOID:1909	melanoma		ISO	RGD:1316839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8827041	Rac2	Rac family small GTPase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1316839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8827041	Rac2	Rac family small GTPase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8827041	Rac2	Rac family small GTPase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827041	Rac2	Rac family small GTPase 2	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1316839	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Combined Immune Deficiency	PMID:25741868|PMID:28492532|PMID:30723080
8827041	Rac2	Rac family small GTPase 2	gene	DOID:630	genetic disease		ISO	RGD:1316839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8827041	Rac2	Rac family small GTPase 2	gene	DOID:9000918	Disease Progression		ISO	RGD:1316839	D	RGD:9068941	20221103	CTD		CTD Direct Evidence: marker/mechanism	PMID:35331739
8827041	Rac2	Rac family small GTPase 2	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:1316839	D	RGD:9068941	20200609	RGD		mRNA:increased expression:gingival tissues	PMID:21382035|REF_RGD_ID:6480655
8827041	Rac2	Rac family small GTPase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1316839	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8827041	Rac2	Rac family small GTPase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827041	Rac2	Rac family small GTPase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8827041	Rac2	Rac family small GTPase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316839	D	RGD:9068941	20221103	CTD		CTD Direct Evidence: marker/mechanism	PMID:35331739
8827095	Pxdnl	peroxidasin like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8827095	Pxdnl	peroxidasin like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8827095	Pxdnl	peroxidasin like	gene	DOID:0060058	lymphoma		ISO	RGD:1606718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8827095	Pxdnl	peroxidasin like	gene	DOID:1115	sarcoma		ISO	RGD:1606718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8827095	Pxdnl	peroxidasin like	gene	DOID:1324	lung cancer		ISO	RGD:1606718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8827095	Pxdnl	peroxidasin like	gene	DOID:1909	melanoma		ISO	RGD:1606718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8827095	Pxdnl	peroxidasin like	gene	DOID:3070	high grade glioma		ISO	RGD:1606718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8827095	Pxdnl	peroxidasin like	gene	DOID:3275	thymoma		ISO	RGD:1606718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8827095	Pxdnl	peroxidasin like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8827095	Pxdnl	peroxidasin like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827095	Pxdnl	peroxidasin like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8827095	Pxdnl	peroxidasin like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827095	Pxdnl	peroxidasin like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8827124	Nudt16l1	nudix hydrolase 16 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8827124	Nudt16l1	nudix hydrolase 16 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8827124	Nudt16l1	nudix hydrolase 16 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1342997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8827124	Nudt16l1	nudix hydrolase 16 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1342997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8827124	Nudt16l1	nudix hydrolase 16 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1342997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8827124	Nudt16l1	nudix hydrolase 16 like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1342997	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8827124	Nudt16l1	nudix hydrolase 16 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827124	Nudt16l1	nudix hydrolase 16 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827124	Nudt16l1	nudix hydrolase 16 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8827124	Nudt16l1	nudix hydrolase 16 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8827143	Cd101	CD101 molecule	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
8827143	Cd101	CD101 molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8827143	Cd101	CD101 molecule	gene	DOID:10534	stomach cancer		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8827143	Cd101	CD101 molecule	gene	DOID:1115	sarcoma		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8827143	Cd101	CD101 molecule	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
8827143	Cd101	CD101 molecule	gene	DOID:3275	thymoma		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8827143	Cd101	CD101 molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8827143	Cd101	CD101 molecule	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8827143	Cd101	CD101 molecule	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8827143	Cd101	CD101 molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:1322923	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8827143	Cd101	CD101 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827143	Cd101	CD101 molecule	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8827143	Cd101	CD101 molecule	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
8827143	Cd101	CD101 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827143	Cd101	CD101 molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8827143	Cd101	CD101 molecule	gene	DOID:9256	colorectal cancer		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
8827163	Strap	serine/threonine kinase receptor associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8827163	Strap	serine/threonine kinase receptor associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8827163	Strap	serine/threonine kinase receptor associated protein	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1322398	D	RGD:9068941	20200609	RGD			PMID:16778189|REF_RGD_ID:1581429
8827163	Strap	serine/threonine kinase receptor associated protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8827163	Strap	serine/threonine kinase receptor associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1322398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8827163	Strap	serine/threonine kinase receptor associated protein	gene	DOID:1324	lung cancer		ISO	RGD:1322398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8827163	Strap	serine/threonine kinase receptor associated protein	gene	DOID:299	adenocarcinoma		ISO	RGD:1322398	D	RGD:9068941	20200609	RGD			PMID:16778189|REF_RGD_ID:1581429
8827163	Strap	serine/threonine kinase receptor associated protein	gene	DOID:3168	squamous cell neoplasm		ISO	RGD:1322398	D	RGD:9068941	20200609	RGD			PMID:16778189|REF_RGD_ID:1581429
8827163	Strap	serine/threonine kinase receptor associated protein	gene	DOID:3275	thymoma		ISO	RGD:1322398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8827163	Strap	serine/threonine kinase receptor associated protein	gene	DOID:3905	lung carcinoma		ISO	RGD:1322398	D	RGD:9068941	20200609	RGD			PMID:16778189|REF_RGD_ID:1581429
8827163	Strap	serine/threonine kinase receptor associated protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8827163	Strap	serine/threonine kinase receptor associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1322398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8827163	Strap	serine/threonine kinase receptor associated protein	gene	DOID:4552	large cell carcinoma		ISO	RGD:1322398	D	RGD:9068941	20200609	RGD			PMID:16778189|REF_RGD_ID:1581429
8827163	Strap	serine/threonine kinase receptor associated protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1322398	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8827163	Strap	serine/threonine kinase receptor associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827163	Strap	serine/threonine kinase receptor associated protein	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1322398	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15720808
8827163	Strap	serine/threonine kinase receptor associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8827163	Strap	serine/threonine kinase receptor associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8827179	Tmem165	transmembrane protein 165	gene	DOID:0070263	congenital disorder of glycosylation type IIk		ISO	RGD:1601750	D	RGD:7240710	20180130	OMIM			
8827179	Tmem165	transmembrane protein 165	gene	DOID:0070263	congenital disorder of glycosylation type IIk		ISO	RGD:1601750	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk | ClinVar Annotator: match by term: TMEM165-CDG | ClinVar Annotator: match by term: TMEM165-related condition	PMID:25741868|PMID:28492532
8827179	Tmem165	transmembrane protein 165	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1601750	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
8827179	Tmem165	transmembrane protein 165	gene	DOID:10534	stomach cancer		ISO	RGD:1601750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8827179	Tmem165	transmembrane protein 165	gene	DOID:1909	melanoma		ISO	RGD:1601750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8827179	Tmem165	transmembrane protein 165	gene	DOID:3070	high grade glioma		ISO	RGD:1601750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:28492532
8827179	Tmem165	transmembrane protein 165	gene	DOID:4362	cervical cancer		ISO	RGD:1601750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8827179	Tmem165	transmembrane protein 165	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827179	Tmem165	transmembrane protein 165	gene	DOID:6039	uveal melanoma		ISO	RGD:1601750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8827179	Tmem165	transmembrane protein 165	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1601750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8827192	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25042114|PMID:27589997|PMID:28492532
8827192	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:0090112	Nasu-Hakola disease		ISO	RGD:1320401	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	PMID:12925681|PMID:15883308|PMID:18546367|PMID:23150934|PMID:23318515|PMID:23870839|PMID:24899047|PMID:24990881|PMID:25615530|PMID:25741868|PMID:25886450|PMID:27995897|PMID:28334938|PMID:28430856|PMID:28492532|PMID:28559417|PMID:28768830|PMID:29557178|PMID:29723869|PMID:30042649|PMID:33732320|PMID:33969597
8827192	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:0110049	Alzheimer's disease 17	susceptibility	ISO	RGD:1320401	D	RGD:7240710	20260729	OMIM			
8827192	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1320401	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24663666|PMID:28714976
8827192	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8827192	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:1115	sarcoma		ISO	RGD:1320401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8827192	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:1307	dementia		ISO	RGD:1320401	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18546367
8827192	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:4166	syphilis		ISO	RGD:1320401	D	RGD:9068941	20210618	RGD		associated with age;protein:increased expression:CSF (human)	PMID:32117023|REF_RGD_ID:127285386
8827192	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8827192	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:630	genetic disease		ISO	RGD:1320401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8827192	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:9001414	Neurosyphilis	disease_progression	ISO	RGD:1320401	D	RGD:9068941	20210625	RGD		protein:increased expression:CSF (human)	PMID:32117023|REF_RGD_ID:127285386
8827192	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:9003895	Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2		ISO	RGD:1320401	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 | ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 | ClinVar Annotator: match by term: TREM2-related disorder	PMID:12080485|PMID:12754369|PMID:12883936|PMID:12925681|PMID:15883308|PMID:23150934|PMID:23318515|PMID:23399524|PMID:23582655|PMID:24119542|PMID:24899047|PMID:25042114|PMID:25186855|PMID:25615530|PMID:25741868|PMID:26021840|PMID:27067662|PMID:27084067|PMID:27520774|PMID:27589997|PMID:27995897|PMID:28334938|PMID:28376694|PMID:28492532|PMID:28768830|PMID:28789839|PMID:29142083|PMID:29557178|PMID:29723869|PMID:30242731|PMID:31217084|PMID:32319261|PMID:32894242|PMID:34663480|PMID:35873773|PMID:36112222|PMID:36133075|PMID:3681354
8827192	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:9003895	Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2	susceptibility	ISO	RGD:1320401	D	RGD:7240710	20260729	OMIM			
8827192	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827192	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:9007337	Teratogenesis		ISO	RGD:1320401	D	RGD:9068941	20250306	CTD		CTD Direct Evidence: marker/mechanism	PMID:39288838
8827192	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:905	Zellweger syndrome		ISO	RGD:1320401	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Zellweger Spectrum	PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792
8827192	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1320401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	PMID:23582655|PMID:25741868
8827192	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1320401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:26021840|PMID:27520774|PMID:28492532|PMID:28789839|PMID:29557178|PMID:32894242|PMID:34663480
8827201	Gsx2	GS homeobox 2	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1602642	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
8827201	Gsx2	GS homeobox 2	gene	DOID:9007719	Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2		ISO	RGD:1602642	D	RGD:7240710	20191127	OMIM			
8827201	Gsx2	GS homeobox 2	gene	DOID:9007719	Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2		ISO	RGD:1602642	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2	
8827226	Asprv1	aspartic peptidase retroviral like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1604987	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8827226	Asprv1	aspartic peptidase retroviral like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1604987	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8827226	Asprv1	aspartic peptidase retroviral like 1	gene	DOID:1697	ichthyosis		ISO	RGD:12276125	D	RGD:9068941	20250717	OMIA		Ichthyosis, ASPRV1-related	PMID:28249031|PMID:34796560|PMID:34861369|PMID:36006348|PMID:38549226
8827226	Asprv1	aspartic peptidase retroviral like 1	gene	DOID:630	genetic disease		ISO	RGD:1604987	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8827226	Asprv1	aspartic peptidase retroviral like 1	gene	DOID:9003075	Lamellar Ichthyosis, Autosomal Dominant Form		ISO	RGD:1604987	D	RGD:7240710	20200902	OMIM			
8827226	Asprv1	aspartic peptidase retroviral like 1	gene	DOID:9003075	Lamellar Ichthyosis, Autosomal Dominant Form		ISO	RGD:1604987	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal dominant lamellar ichthyosis | ClinVar Annotator: match by term: ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: ichthyosis, lamellar, autosomal dominant	PMID:25741868|PMID:32516568
8827232	Pin4	peptidylprolyl cis/trans isomerase, NIMA-interacting 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8827232	Pin4	peptidylprolyl cis/trans isomerase, NIMA-interacting 4	gene	DOID:1115	sarcoma		ISO	RGD:1345088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8827232	Pin4	peptidylprolyl cis/trans isomerase, NIMA-interacting 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827232	Pin4	peptidylprolyl cis/trans isomerase, NIMA-interacting 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827241	Rab6a	RAB6A, member RAS oncogene family	gene	DOID:10534	stomach cancer		ISO	RGD:1320484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8827241	Rab6a	RAB6A, member RAS oncogene family	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8827241	Rab6a	RAB6A, member RAS oncogene family	gene	DOID:1115	sarcoma		ISO	RGD:1320484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8827241	Rab6a	RAB6A, member RAS oncogene family	gene	DOID:1324	lung cancer		ISO	RGD:1320484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8827241	Rab6a	RAB6A, member RAS oncogene family	gene	DOID:3275	thymoma		ISO	RGD:1320484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8827241	Rab6a	RAB6A, member RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:1320484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8827241	Rab6a	RAB6A, member RAS oncogene family	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8827241	Rab6a	RAB6A, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827259	Atr	ATR serine/threonine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8827259	Atr	ATR serine/threonine kinase	gene	DOID:0050569	Seckel syndrome		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seckel syndrome	PMID:25741868|PMID:28492532
8827259	Atr	ATR serine/threonine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8827259	Atr	ATR serine/threonine kinase	gene	DOID:0070007	Seckel syndrome 1		ISO	RGD:1314047	D	RGD:7240710	20180130	OMIM			
8827259	Atr	ATR serine/threonine kinase	gene	DOID:0070007	Seckel syndrome 1		ISO	RGD:1314047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ATR-related condition | ClinVar Annotator: match by term: MICROCEPHALIC PRIMORDIAL DWARFISM I | ClinVar Annotator: match by term: SECKEL SYNDROME 1 | ClinVar Annotator: match by term: Seckel syndrome 1	PMID:15987455|PMID:17010193|PMID:17576681|PMID:18414213|PMID:21228398|PMID:23144622|PMID:25741868|PMID:26845104|PMID:28492532|PMID:28518168|PMID:30159786|PMID:30199583|PMID:30262796|PMID:30995915|PMID:32461654|PMID:32522261|PMID:32606146|PMID:33057211|PMID:35181726|PMID:9536098
8827259	Atr	ATR serine/threonine kinase	gene	DOID:0070007	Seckel syndrome 1	susceptibility	ISO	RGD:1314047	D	RGD:9068941	20200806	RGD		DNA:point mutation:2101A>G (human)	PMID:12640452|REF_RGD_ID:1599404
8827259	Atr	ATR serine/threonine kinase	gene	DOID:0080202	adenoid cystic carcinoma	treatment	ISO	RGD:1314047	D	RGD:9068941	20210827	RGD			PMID:32001675|REF_RGD_ID:150340693
8827259	Atr	ATR serine/threonine kinase	gene	DOID:10316	pneumoconiosis		ISO	RGD:1314047	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25445010
8827259	Atr	ATR serine/threonine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8827259	Atr	ATR serine/threonine kinase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1314047	D	RGD:9068941	20200609	RGD			PMID:23861893|REF_RGD_ID:10047419
8827259	Atr	ATR serine/threonine kinase	gene	DOID:10907	microcephaly		ISO	RGD:1314047	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8827259	Atr	ATR serine/threonine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:15987455|PMID:18414213|PMID:25741868|PMID:28492532|PMID:32522261
8827259	Atr	ATR serine/threonine kinase	gene	DOID:1115	sarcoma		ISO	RGD:1314047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8827259	Atr	ATR serine/threonine kinase	gene	DOID:1324	lung cancer		ISO	RGD:1314047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8827259	Atr	ATR serine/threonine kinase	gene	DOID:1324	lung cancer	treatment	ISO	RGD:1314047	D	RGD:9068941	20210827	RGD			PMID:25010037|REF_RGD_ID:150340694
8827259	Atr	ATR serine/threonine kinase	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8827259	Atr	ATR serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:26845104
8827259	Atr	ATR serine/threonine kinase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1314047	D	RGD:9068941	20200609	RGD		DNA:SNP: :340C>T (human)	PMID:18381943|REF_RGD_ID:2317234
8827259	Atr	ATR serine/threonine kinase	gene	DOID:1909	melanoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8827259	Atr	ATR serine/threonine kinase	gene	DOID:219	colon cancer		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:25741868|PMID:26845104|PMID:28492532
8827259	Atr	ATR serine/threonine kinase	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:1314047	D	RGD:9068941	20210827	RGD		DNA:mutations: :	PMID:17879369|REF_RGD_ID:150340676
8827259	Atr	ATR serine/threonine kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8827259	Atr	ATR serine/threonine kinase	gene	DOID:3070	high grade glioma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8827259	Atr	ATR serine/threonine kinase	gene	DOID:3275	thymoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8827259	Atr	ATR serine/threonine kinase	gene	DOID:3459	breast carcinoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multifocal breast carcinoma	PMID:25741868|PMID:26845104|PMID:28492532
8827259	Atr	ATR serine/threonine kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8827259	Atr	ATR serine/threonine kinase	gene	DOID:4159	skin cancer		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: skin cancer	PMID:21228398|PMID:23144622|PMID:25741868|PMID:26845104|PMID:27084275|PMID:28492532
8827259	Atr	ATR serine/threonine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1314047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8827259	Atr	ATR serine/threonine kinase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8827259	Atr	ATR serine/threonine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1314047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8827259	Atr	ATR serine/threonine kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8827259	Atr	ATR serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38348036
8827259	Atr	ATR serine/threonine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827259	Atr	ATR serine/threonine kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8827259	Atr	ATR serine/threonine kinase	gene	DOID:630	genetic disease		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15987455|PMID:18414213|PMID:25741868|PMID:28492532|PMID:32522261
8827259	Atr	ATR serine/threonine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8827259	Atr	ATR serine/threonine kinase	gene	DOID:9001916	Fetal Death		ISO	RGD:733730	D	RGD:9068941	20210827	RGD			PMID:15282542|REF_RGD_ID:150340675
8827259	Atr	ATR serine/threonine kinase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314047	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25415046
8827259	Atr	ATR serine/threonine kinase	gene	DOID:9002856	Cutaneous Telangiectasia and Cancer Syndrome, Familial		ISO	RGD:1314047	D	RGD:7240710	20180130	OMIM			
8827259	Atr	ATR serine/threonine kinase	gene	DOID:9002856	Cutaneous Telangiectasia and Cancer Syndrome, Familial		ISO	RGD:1314047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	PMID:15987455|PMID:17576681|PMID:18414213|PMID:21228398|PMID:22341969|PMID:23144622|PMID:25741868|PMID:26845104|PMID:28492532|PMID:30262796|PMID:30995915|PMID:32522261|PMID:9536098
8827259	Atr	ATR serine/threonine kinase	gene	DOID:9004643	Urologic Neoplasms		ISO	RGD:1314047	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23618899
8827259	Atr	ATR serine/threonine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827259	Atr	ATR serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1314047	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:15987455|PMID:18414213|PMID:25741868|PMID:26845104|PMID:28492532|PMID:33558524
8827259	Atr	ATR serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:25741868|PMID:26845104|PMID:28492532|PMID:33558524
8827259	Atr	ATR serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8827259	Atr	ATR serine/threonine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8827259	Atr	ATR serine/threonine kinase	gene	DOID:9261	nasopharynx carcinoma	treatment	ISO	RGD:1314047	D	RGD:9068941	20210827	RGD			PMID:28820634|REF_RGD_ID:150340692
8827310	Tsku	tsukushi, small leucine rich proteoglycan	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827324	Tff1	trefoil factor 1	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:1344671	D	RGD:9068941	20200609	RGD			PMID:15375487|REF_RGD_ID:2292005
8827324	Tff1	trefoil factor 1	gene	DOID:0060180	colitis		ISO	RGD:620707	D	RGD:9068941	20200609	RGD			PMID:8836141|REF_RGD_ID:625375
8827324	Tff1	trefoil factor 1	gene	DOID:0080365	endometrial hyperplasia		ISO	RGD:1344671	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:9221798|REF_RGD_ID:2298572
8827324	Tff1	trefoil factor 1	gene	DOID:10283	prostate cancer		ISO	RGD:1344671	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate gland	PMID:10458410|REF_RGD_ID:2298571
8827324	Tff1	trefoil factor 1	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1344671	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16467092|REF_RGD_ID:2291999
8827324	Tff1	trefoil factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:732017	D	RGD:9068941	20220825	MouseDO		OMIM:137215 | OMIM:613659	
8827324	Tff1	trefoil factor 1	gene	DOID:10608	celiac disease		ISO	RGD:1344671	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
8827324	Tff1	trefoil factor 1	gene	DOID:10808	gastric ulcer		ISO	RGD:620707	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:stomach mucosa	PMID:11350545|REF_RGD_ID:2292012
8827324	Tff1	trefoil factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344671	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder	PMID:18283638|REF_RGD_ID:2291996
8827324	Tff1	trefoil factor 1	gene	DOID:1380	endometrial cancer		ISO	RGD:1344671	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:endometrium	PMID:10835496|REF_RGD_ID:2298569
8827324	Tff1	trefoil factor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1344671	D	RGD:9068941	20200609	RGD			PMID:17624412|REF_RGD_ID:2292003
8827324	Tff1	trefoil factor 1	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1344671	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder urothelium	PMID:7965392|REF_RGD_ID:2298573
8827324	Tff1	trefoil factor 1	gene	DOID:2871	endometrial carcinoma	disease_progression	ISO	RGD:1344671	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:9221798|REF_RGD_ID:2298572
8827324	Tff1	trefoil factor 1	gene	DOID:3493	signet ring cell adenocarcinoma		ISO	RGD:1344671	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder	PMID:18283638|REF_RGD_ID:2291996
8827324	Tff1	trefoil factor 1	gene	DOID:3702	cervical adenocarcinoma		ISO	RGD:1344671	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:uterine cervix	PMID:10727981|REF_RGD_ID:2298570
8827324	Tff1	trefoil factor 1	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1344671	D	RGD:9068941	20200609	RGD			PMID:9066601|REF_RGD_ID:2292004
8827324	Tff1	trefoil factor 1	gene	DOID:9001295	Achlorhydria		ISO	RGD:620707	D	RGD:9068941	20200609	RGD		protein:increased secretion:stomach	PMID:11903739|REF_RGD_ID:2292010
8827324	Tff1	trefoil factor 1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1344671	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19880587
8827324	Tff1	trefoil factor 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1344671	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21283680
8827324	Tff1	trefoil factor 1	gene	DOID:9008114	Helicobacter Infections	disease_progression	ISO	RGD:732017	D	RGD:9068941	20200828	RGD		mRNA:altered expression:gastric antrum (mouse)	PMID:29085807|REF_RGD_ID:38549349
8827324	Tff1	trefoil factor 1	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:1344671	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:16267614|REF_RGD_ID:2292002
8827324	Tff1	trefoil factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8827324	Tff1	trefoil factor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1344671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:0050700	cardiomyopathy		ISO	RGD:2032	D	RGD:9068941	20200609	RGD			PMID:24244825|REF_RGD_ID:13702879
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:0060256	Dowling-Degos disease		ISO	RGD:735847	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:0060258	reticulate acropigmentation of Kitamura		ISO	RGD:735847	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RETICULATE ACROPIGMENTATION OF KITAMURA | ClinVar Annotator: match by term: Reticulate acropigmentation of Kitamura	PMID:25741868
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:0060258	reticulate acropigmentation of Kitamura	susceptibility	ISO	RGD:735847	D	RGD:7240710	20260722	OMIM			
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:0081292	traumatic brain injury		ISO	RGD:2032	D	RGD:9068941	20200609	RGD			PMID:22489706|REF_RGD_ID:13703033
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:0110050	Alzheimer's disease 18		ISO	RGD:735847	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Alzheimer disease 18	PMID:25741868
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:0110050	Alzheimer's disease 18	susceptibility	ISO	RGD:735847	D	RGD:7240710	20260722	OMIM			
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:10534	stomach cancer		ISO	RGD:735847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:10652	Alzheimer's disease		ISO	RGD:2032	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebral cortex, hippocampus	PMID:23296102|PMID:24792732|REF_RGD_ID:13703032|REF_RGD_ID:13703037
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735847	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30820047
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:1074	kidney failure		ISO	RGD:735847	D	RGD:9068941	20210709	CTD		CTD Direct Evidence: marker/mechanism	PMID:32715474
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:1324	lung cancer		ISO	RGD:735847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:2032	D	RGD:9068941	20200609	RGD		protein:increased expression:aorta	PMID:20621845|REF_RGD_ID:5129489
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:1824	status epilepticus		ISO	RGD:2032	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dentate gyrus	PMID:15950787|REF_RGD_ID:1559151
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:1909	melanoma		ISO	RGD:735847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:735847	D	RGD:9068941	20210709	CTD		CTD Direct Evidence: marker/mechanism	PMID:32715474
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:5199	ureteral obstruction		ISO	RGD:735848	D	RGD:9068941	20200609	RGD			PMID:24103556|REF_RGD_ID:13703030
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:630	genetic disease		ISO	RGD:735847	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:83	cataract		ISO	RGD:2032	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina	PMID:23941810|REF_RGD_ID:13703031
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:9000784	Fibrosis		ISO	RGD:735847	D	RGD:9068941	20210709	CTD		CTD Direct Evidence: marker/mechanism	PMID:32715474
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:735847	D	RGD:9068941	20210709	CTD		CTD Direct Evidence: marker/mechanism	PMID:32715474
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2032	D	RGD:9068941	20200609	RGD			PMID:23897050|REF_RGD_ID:13703039
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:2032	D	RGD:9068941	20200609	RGD		associated with Sleep Deprivation	PMID:28455102|REF_RGD_ID:13782059
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:9003713	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis		ISO	RGD:735847	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Corticobasal syndrome	PMID:25741868
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:735847	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16583263
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735847	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8827330	Adam10	ADAM metallopeptidase domain 10	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:735847	D	RGD:9068941	20220728	RGD			PMID:31565100|REF_RGD_ID:153298908
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603972	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:17546030|PMID:19309688|PMID:25741868|PMID:28492532
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:0080636	syndromic microphthalmia		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic microphthalmia	PMID:25741868
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:10907	microcephaly		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:1283	enterocele		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:1827	generalized epilepsy		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:2120	focal dermal hypoplasia		ISO	RGD:1603972	D	RGD:7240710	20180130	OMIM			
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:2120	focal dermal hypoplasia		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FOCAL DERMAL HYPOPLASIA | ClinVar Annotator: match by term: Focal dermal hypoplasia | ClinVar Annotator: match by term: Goltz syndrome | ClinVar Annotator: match by term: PORCN-related condition	PMID:17546030|PMID:17546031|PMID:18325042|PMID:19277062|PMID:19309688|PMID:19586929|PMID:19863546|PMID:20301712|PMID:20854095|PMID:22888000|PMID:23131169|PMID:25640089|PMID:25741868|PMID:28492532|PMID:29383603|PMID:30022487|PMID:32141364
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1603972	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:540	strabismus		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17546030|PMID:17546031|PMID:19277062|PMID:19309688|PMID:21484999|PMID:25640089|PMID:25741868|PMID:26633542|PMID:28492532|PMID:30374660|PMID:39613420
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:9003133	Hypertelorism		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:9004538	Hearing Loss		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:17546030|PMID:18325042|PMID:19309688
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:9007661	Dwarfism		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603972	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741874
8827365	Porcn	porcupine O-acyltransferase	gene	DOID:936	brain disease		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile encephalopathy	
8827441	Svil	supervillin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8827441	Svil	supervillin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8827441	Svil	supervillin	gene	DOID:0112108	myofibrillar myopathy 10		ISO	RGD:1314924	D	RGD:7240710	20201021	OMIM			
8827441	Svil	supervillin	gene	DOID:0112108	myofibrillar myopathy 10		ISO	RGD:1314924	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Myofibrillar myopathy 10 | ClinVar Annotator: match by term: SVIL-related condition	PMID:25741868|PMID:28492532
8827441	Svil	supervillin	gene	DOID:10534	stomach cancer		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8827441	Svil	supervillin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8827441	Svil	supervillin	gene	DOID:1115	sarcoma		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8827441	Svil	supervillin	gene	DOID:1324	lung cancer		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8827441	Svil	supervillin	gene	DOID:3275	thymoma		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8827441	Svil	supervillin	gene	DOID:4362	cervical cancer		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8827441	Svil	supervillin	gene	DOID:5041	esophageal cancer		ISO	RGD:1314924	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8827441	Svil	supervillin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8827441	Svil	supervillin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827441	Svil	supervillin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
8827441	Svil	supervillin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827441	Svil	supervillin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314924	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
8827491	Stau2	staufen double-stranded RNA binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8827491	Stau2	staufen double-stranded RNA binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1351558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8827491	Stau2	staufen double-stranded RNA binding protein 2	gene	DOID:10629	microphthalmia		ISO	RGD:621479	D	RGD:9068941	20200609	RGD			PMID:22940085|REF_RGD_ID:10043154
8827491	Stau2	staufen double-stranded RNA binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1351558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8827491	Stau2	staufen double-stranded RNA binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1351558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8827491	Stau2	staufen double-stranded RNA binding protein 2	gene	DOID:3070	high grade glioma		ISO	RGD:1351558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8827491	Stau2	staufen double-stranded RNA binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8827491	Stau2	staufen double-stranded RNA binding protein 2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1351558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8827491	Stau2	staufen double-stranded RNA binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827491	Stau2	staufen double-stranded RNA binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8827491	Stau2	staufen double-stranded RNA binding protein 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1351558	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8827491	Stau2	staufen double-stranded RNA binding protein 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1351558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8827491	Stau2	staufen double-stranded RNA binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8827491	Stau2	staufen double-stranded RNA binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8827526	Enosf1	enolase superfamily member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8827526	Enosf1	enolase superfamily member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8827526	Enosf1	enolase superfamily member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8827526	Enosf1	enolase superfamily member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8827526	Enosf1	enolase superfamily member 1	gene	DOID:1115	sarcoma		ISO	RGD:1346972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8827526	Enosf1	enolase superfamily member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8827526	Enosf1	enolase superfamily member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346972	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8827526	Enosf1	enolase superfamily member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827526	Enosf1	enolase superfamily member 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1346972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8827526	Enosf1	enolase superfamily member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8827526	Enosf1	enolase superfamily member 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1346972	D	RGD:9068941	20220616	RGD		DNA:SNP:cds:rs699517 (human)	PMID:28347776|REF_RGD_ID:152995291
8827526	Enosf1	enolase superfamily member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8827554	Pnisr	PNN interacting serine and arginine rich protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8827554	Pnisr	PNN interacting serine and arginine rich protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8827554	Pnisr	PNN interacting serine and arginine rich protein	gene	DOID:10534	stomach cancer		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8827554	Pnisr	PNN interacting serine and arginine rich protein	gene	DOID:1324	lung cancer		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8827554	Pnisr	PNN interacting serine and arginine rich protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827554	Pnisr	PNN interacting serine and arginine rich protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8827554	Pnisr	PNN interacting serine and arginine rich protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827554	Pnisr	PNN interacting serine and arginine rich protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8827554	Pnisr	PNN interacting serine and arginine rich protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8827587	Atp5mc2	ATP synthase membrane subunit c locus 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736098	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:26929985|REF_RGD_ID:14696811
8827587	Atp5mc2	ATP synthase membrane subunit c locus 2	gene	DOID:1909	melanoma		ISO	RGD:736098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8827587	Atp5mc2	ATP synthase membrane subunit c locus 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8827587	Atp5mc2	ATP synthase membrane subunit c locus 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:736098	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:21132003|REF_RGD_ID:14696812
8827587	Atp5mc2	ATP synthase membrane subunit c locus 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736098	D	RGD:9068941	20200609	RGD			PMID:28672194|REF_RGD_ID:14696810
8827587	Atp5mc2	ATP synthase membrane subunit c locus 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827587	Atp5mc2	ATP synthase membrane subunit c locus 2	gene	DOID:9000740	ST Elevation Myocardial Infarction	severity	ISO	RGD:736098	D	RGD:9068941	20200609	RGD			PMID:27441480|REF_RGD_ID:14696800
8827587	Atp5mc2	ATP synthase membrane subunit c locus 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827587	Atp5mc2	ATP synthase membrane subunit c locus 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8827587	Atp5mc2	ATP synthase membrane subunit c locus 2	gene	DOID:9970	obesity		ISO	RGD:731824	D	RGD:9068941	20200609	RGD			PMID:26709097|REF_RGD_ID:11535661
8827599	Stx16	syntaxin 16	gene	DOID:0080222	pseudohypoparathyroidism type 1B		ISO	RGD:1319758	D	RGD:7240710	20180130	OMIM			
8827599	Stx16	syntaxin 16	gene	DOID:4479	pseudohypoaldosteronism		ISO	RGD:1319758	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8827649	Nxph3	neurexophilin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827655	Traf2	TNF receptor associated factor 2	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1321367	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
8827655	Traf2	TNF receptor associated factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8827655	Traf2	TNF receptor associated factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8827655	Traf2	TNF receptor associated factor 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1321367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8827655	Traf2	TNF receptor associated factor 2	gene	DOID:1909	melanoma		ISO	RGD:1321367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8827655	Traf2	TNF receptor associated factor 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8827655	Traf2	TNF receptor associated factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8827655	Traf2	TNF receptor associated factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827655	Traf2	TNF receptor associated factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8827655	Traf2	TNF receptor associated factor 2	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:1310457	D	RGD:9068941	20200709	RGD			PMID:31828147|REF_RGD_ID:35316072
8827655	Traf2	TNF receptor associated factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827655	Traf2	TNF receptor associated factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8827655	Traf2	TNF receptor associated factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8827671	Sh2d3c	SH2 domain containing 3C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8827671	Sh2d3c	SH2 domain containing 3C	gene	DOID:10534	stomach cancer		ISO	RGD:1316391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8827671	Sh2d3c	SH2 domain containing 3C	gene	DOID:1909	melanoma		ISO	RGD:1316391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8827671	Sh2d3c	SH2 domain containing 3C	gene	DOID:3275	thymoma		ISO	RGD:1316391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8827671	Sh2d3c	SH2 domain containing 3C	gene	DOID:4362	cervical cancer		ISO	RGD:1316391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8827671	Sh2d3c	SH2 domain containing 3C	gene	DOID:5041	esophageal cancer		ISO	RGD:1316391	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8827671	Sh2d3c	SH2 domain containing 3C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827671	Sh2d3c	SH2 domain containing 3C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8827706	Cryz	crystallin zeta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8827706	Cryz	crystallin zeta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8827706	Cryz	crystallin zeta	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1323202	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8827706	Cryz	crystallin zeta	gene	DOID:1115	sarcoma		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8827706	Cryz	crystallin zeta	gene	DOID:1324	lung cancer		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8827706	Cryz	crystallin zeta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8827706	Cryz	crystallin zeta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8827706	Cryz	crystallin zeta	gene	DOID:5041	esophageal cancer		ISO	RGD:1323202	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8827706	Cryz	crystallin zeta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827706	Cryz	crystallin zeta	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8827706	Cryz	crystallin zeta	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
8827706	Cryz	crystallin zeta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8827706	Cryz	crystallin zeta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8827706	Cryz	crystallin zeta	gene	DOID:9256	colorectal cancer		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8827730	Ankib1	ankyrin repeat and IBR domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8827730	Ankib1	ankyrin repeat and IBR domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8827730	Ankib1	ankyrin repeat and IBR domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8827730	Ankib1	ankyrin repeat and IBR domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1316285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8827730	Ankib1	ankyrin repeat and IBR domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8827730	Ankib1	ankyrin repeat and IBR domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316285	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8827730	Ankib1	ankyrin repeat and IBR domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827730	Ankib1	ankyrin repeat and IBR domain containing 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1316285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8827730	Ankib1	ankyrin repeat and IBR domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827730	Ankib1	ankyrin repeat and IBR domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8827730	Ankib1	ankyrin repeat and IBR domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8827763	Cartpt	CART prepropeptide	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1605714	D	RGD:9068941	20250213	RGD		DNA:SNP: : rs16871471	PMID:20362026|REF_RGD_ID:597805891
8827763	Cartpt	CART prepropeptide	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1605714	D	RGD:9068941	20250213	RGD		DNA:polymorphism: :	PMID:15234472|REF_RGD_ID:597805890
8827763	Cartpt	CART prepropeptide	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1605714	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	PMID:25741868
8827763	Cartpt	CART prepropeptide	gene	DOID:10914	amnestic disorder	treatment	ISO	RGD:2272	D	RGD:9068941	20241003	RGD		associated with morphine withdrawal syndrome	PMID:32198124|REF_RGD_ID:407571681
8827763	Cartpt	CART prepropeptide	gene	DOID:1561	cognitive disorder		ISO	RGD:2272	D	RGD:9068941	20250220	RGD		mRNA:decreased expression:brain	PMID:30825582|REF_RGD_ID:597805892
8827763	Cartpt	CART prepropeptide	gene	DOID:1574	alcohol use disorder	susceptibility	ISO	RGD:1605714	D	RGD:9068941	20250213	RGD		DNA:SNPs: : rs11575893,rs16871471	PMID:20362026|REF_RGD_ID:597805891
8827763	Cartpt	CART prepropeptide	gene	DOID:2030	anxiety disorder		ISO	RGD:1605714	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12600694
8827763	Cartpt	CART prepropeptide	gene	DOID:2560	morphine dependence		ISO	RGD:2272	D	RGD:9068941	20250213	RGD		mRNA, protein:decreased expression:nucleus accumbens	PMID:26955782|REF_RGD_ID:597805883
8827763	Cartpt	CART prepropeptide	gene	DOID:3526	cerebral infarction	ameliorates	ISO	RGD:2272	D	RGD:9068941	20250220	RGD			PMID:16971488|REF_RGD_ID:407986645
8827763	Cartpt	CART prepropeptide	gene	DOID:670	amphetamine abuse		ISO	RGD:2272	D	RGD:9068941	20250220	RGD		mRNA:increased expression:striatum	PMID:28827541|REF_RGD_ID:407984842
8827763	Cartpt	CART prepropeptide	gene	DOID:7998	hyperthyroidism		ISO	RGD:1605714	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12395121
8827763	Cartpt	CART prepropeptide	gene	DOID:809	cocaine abuse		ISO	RGD:1605714	D	RGD:9068941	20250220	RGD		mRNA:increased expression:nucleus accumbens	PMID:15009677|REF_RGD_ID:597805894
8827763	Cartpt	CART prepropeptide	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:2272	D	RGD:9068941	20250220	RGD		associated with ethanol exposure	PMID:30825582|REF_RGD_ID:597805892
8827763	Cartpt	CART prepropeptide	gene	DOID:9001600	Wounds and Injuries	disease_progression	ISO	RGD:2272	D	RGD:9068941	20250220	RGD			PMID:29115641|REF_RGD_ID:597805893
8827763	Cartpt	CART prepropeptide	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1605714	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21167239
8827763	Cartpt	CART prepropeptide	gene	DOID:9004354	Alcohol-Related Disorders		ISO	RGD:1605714	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22823101
8827763	Cartpt	CART prepropeptide	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:2272	D	RGD:9068941	20250213	RGD		mRNA, protein:increased expression:nucleus accumbens	PMID:26955782|REF_RGD_ID:597805883
8827763	Cartpt	CART prepropeptide	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1605714	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20886038
8827763	Cartpt	CART prepropeptide	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827763	Cartpt	CART prepropeptide	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1605714	D	RGD:9068941	20250220	RGD		mRNA:increased expression:pancreatic islet:	PMID:27338624|REF_RGD_ID:597805937
8827763	Cartpt	CART prepropeptide	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2272	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreatic B cell	PMID:16443761|REF_RGD_ID:2313632
8827763	Cartpt	CART prepropeptide	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736802	D	RGD:9068941	20250220	RGD		mRNA:increased expression:pancreatic islet:	PMID:27338624|REF_RGD_ID:597805937
8827763	Cartpt	CART prepropeptide	gene	DOID:9970	obesity		ISO	RGD:1605714	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Obesity, susceptibility to	PMID:25741868
8827763	Cartpt	CART prepropeptide	gene	DOID:9970	obesity	no_association	ISO	RGD:1605714	D	RGD:9068941	20200609	RGD		DNA:deletion, substitution: :1457delA, 1475A>G (human)	PMID:10574510|REF_RGD_ID:2313634
8827763	Cartpt	CART prepropeptide	gene	DOID:9970	obesity	no_association	ISO	RGD:1605714	D	RGD:9068941	20200609	RGD		DNA:polymorphism:3' utr (human)	PMID:10805512|REF_RGD_ID:2313633
8827763	Cartpt	CART prepropeptide	gene	DOID:9970	obesity	susceptibility	ISO	RGD:1605714	D	RGD:7240710	20230505	OMIM			
8827770	Tmx3	thioredoxin related transmembrane protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8827770	Tmx3	thioredoxin related transmembrane protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8827770	Tmx3	thioredoxin related transmembrane protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8827770	Tmx3	thioredoxin related transmembrane protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8827770	Tmx3	thioredoxin related transmembrane protein 3	gene	DOID:1909	melanoma		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8827770	Tmx3	thioredoxin related transmembrane protein 3	gene	DOID:3275	thymoma		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8827770	Tmx3	thioredoxin related transmembrane protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8827770	Tmx3	thioredoxin related transmembrane protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8827770	Tmx3	thioredoxin related transmembrane protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827770	Tmx3	thioredoxin related transmembrane protein 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1348440	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8827770	Tmx3	thioredoxin related transmembrane protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8827770	Tmx3	thioredoxin related transmembrane protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827770	Tmx3	thioredoxin related transmembrane protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8827770	Tmx3	thioredoxin related transmembrane protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8827790	Tmem130	transmembrane protein 130	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8827790	Tmem130	transmembrane protein 130	gene	DOID:10534	stomach cancer		ISO	RGD:1605559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8827790	Tmem130	transmembrane protein 130	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827790	Tmem130	transmembrane protein 130	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8827790	Tmem130	transmembrane protein 130	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8827808	Tubgcp2	tubulin gamma complex component 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8827808	Tubgcp2	tubulin gamma complex component 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8827808	Tubgcp2	tubulin gamma complex component 2	gene	DOID:0081266	complex cortical dysplasia with other brain malformations 15		ISO	RGD:1320019	D	RGD:7240710	20200226	OMIM			
8827808	Tubgcp2	tubulin gamma complex component 2	gene	DOID:0081266	complex cortical dysplasia with other brain malformations 15		ISO	RGD:1320019	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 15 | ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | ClinVar Annotator: match by term: TUBGCP2-related condition	PMID:25741868|PMID:31630790|PMID:32368696
8827808	Tubgcp2	tubulin gamma complex component 2	gene	DOID:1115	sarcoma		ISO	RGD:1320019	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8827808	Tubgcp2	tubulin gamma complex component 2	gene	DOID:1324	lung cancer		ISO	RGD:1320019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8827808	Tubgcp2	tubulin gamma complex component 2	gene	DOID:1909	melanoma		ISO	RGD:1320019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8827808	Tubgcp2	tubulin gamma complex component 2	gene	DOID:3275	thymoma		ISO	RGD:1320019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8827808	Tubgcp2	tubulin gamma complex component 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8827808	Tubgcp2	tubulin gamma complex component 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320019	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8827808	Tubgcp2	tubulin gamma complex component 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827808	Tubgcp2	tubulin gamma complex component 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827808	Tubgcp2	tubulin gamma complex component 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8827830	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:16199547|PMID:26275793|PMID:28492532|PMID:30473481|PMID:32918965
8827830	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1603963	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar Annotator: match by term: NADH:Q(1) OXIDOREDUCTASE DEFICIENCY	PMID:16199547|PMID:18940309|PMID:21607760|PMID:23536703|PMID:25356970|PMID:25741868|PMID:26275793|PMID:26467025|PMID:27817865|PMID:28454995|PMID:28492532|PMID:29261183|PMID:29581464|PMID:30473481|PMID:30581749|PMID:31130284|PMID:32918965|PMID:34177781|PMID:34645488|PMID:34732400|PMID:34797029|PMID:35094435|PMID:35379322|PMID:35830182|PMID:37688338|PMID:37718619|PMID:37752895|PMID:39675204
8827830	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:0111754	Leber plus disease		ISO	RGD:1603963	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leber plus disease	PMID:25741868
8827830	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:25741868
8827830	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:0112096	nuclear type mitochondrial complex I deficiency 16		ISO	RGD:1603963	D	RGD:7240710	20190315	OMIM			
8827830	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:0112096	nuclear type mitochondrial complex I deficiency 16		ISO	RGD:1603963	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 16 | ClinVar Annotator: match by term: NDUFAF5-related condition	PMID:16199547|PMID:25741868|PMID:26275793|PMID:28492532|PMID:29581464|PMID:30473481|PMID:32918965|PMID:34177781|PMID:34797029|PMID:34964562|PMID:35379322
8827830	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:10534	stomach cancer		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8827830	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:1247	blood coagulation disease		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:25741868
8827830	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:1324	lung cancer		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8827830	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:1909	melanoma		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8827830	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:2355	anemia		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
8827830	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:25741868
8827830	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:3652	Leigh disease		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:16199547|PMID:17576681|PMID:25741868|PMID:26275793|PMID:28492532|PMID:30473481|PMID:32005694|PMID:32348839|PMID:32918965|PMID:9536098
8827830	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:4362	cervical cancer		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8827830	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8827830	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8827830	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:630	genetic disease		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8827830	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827830	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia, adult	
8827830	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:9993	hypoglycemia		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
8827868	Sulf1	sulfatase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8827868	Sulf1	sulfatase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8827868	Sulf1	sulfatase 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:733350	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8827868	Sulf1	sulfatase 1	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:733350	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30127996
8827868	Sulf1	sulfatase 1	gene	DOID:10534	stomach cancer		ISO	RGD:733350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8827868	Sulf1	sulfatase 1	gene	DOID:1115	sarcoma		ISO	RGD:733350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8827868	Sulf1	sulfatase 1	gene	DOID:1324	lung cancer		ISO	RGD:733350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8827868	Sulf1	sulfatase 1	gene	DOID:1909	melanoma		ISO	RGD:733350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8827868	Sulf1	sulfatase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8827868	Sulf1	sulfatase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8827868	Sulf1	sulfatase 1	gene	DOID:4362	cervical cancer		ISO	RGD:733350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8827868	Sulf1	sulfatase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733350	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8827868	Sulf1	sulfatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827868	Sulf1	sulfatase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8827868	Sulf1	sulfatase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8827868	Sulf1	sulfatase 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:733350	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17310998
8827868	Sulf1	sulfatase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827868	Sulf1	sulfatase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8827868	Sulf1	sulfatase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:733350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:0060249	scoliosis		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25638461|PMID:25741868|PMID:28492532|PMID:30026338
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:0080099	myopathy, lactic acidosis, and sideroblastic anemia		ISO	RGD:1606290	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:0111186	myopathy, lactic acidosis, and sideroblastic anemia 2		ISO	RGD:1606290	D	RGD:7240710	20190320	OMIM			
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:0111186	myopathy, lactic acidosis, and sideroblastic anemia 2		ISO	RGD:1606290	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 | ClinVar Annotator: match by term: YARS2-related condition	PMID:20598274|PMID:23918765|PMID:24088041|PMID:24344687|PMID:25638461|PMID:25741868|PMID:26633545|PMID:26944241|PMID:28492532|PMID:30026338|PMID:33144682|PMID:35393742|PMID:38703036
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:1115	sarcoma		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:11155	hypohidrosis		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:25741868|PMID:28492532
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:11830	myopia		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:12721	multiple epiphyseal dysplasia		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epiphyseal dysplasia	PMID:25638461|PMID:25741868|PMID:28492532|PMID:30026338
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:14213	hypophosphatasia		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Decreased circulating alkaline phosphatase activity	PMID:25638461|PMID:25741868|PMID:28492532|PMID:30026338
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:1891	optic nerve disease		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868|PMID:28492532
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:1909	melanoma		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:480	movement disease		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:630	genetic disease		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20598274|PMID:24344687|PMID:25638461|PMID:25741868|PMID:28492532
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1606290	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	PMID:28812649
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9001733	Tinnitus		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:28492532
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9003539	Hyperacusis		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868|PMID:28492532
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25638461|PMID:25741868|PMID:28492532|PMID:30026338
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9007736	Vertigo		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8827916	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9834	hyperopia		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
8827924	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8827924	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif 18	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1353739	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8827924	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif 18	gene	DOID:1115	sarcoma		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8827924	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif 18	gene	DOID:11782	astigmatism		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
8827924	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif 18	gene	DOID:11830	myopia		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
8827924	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif 18	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1353739	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:25741868|PMID:28492532
8827924	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif 18	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8827924	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif 18	gene	DOID:3275	thymoma		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8827924	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif 18	gene	DOID:4481	allergic rhinitis		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	PMID:25741868
8827924	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1353739	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8827924	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif 18	gene	DOID:5679	retinal disease		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:23818446|PMID:24874986|PMID:25741868|PMID:28492532
8827924	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827924	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif 18	gene	DOID:630	genetic disease		ISO	RGD:1353739	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:32483926
8827924	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif 18	gene	DOID:630	genetic disease		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8827924	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8827924	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif 18	gene	DOID:8501	fundus dystrophy		ISO	RGD:1353739	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532|PMID:32483926
8827924	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif 18	gene	DOID:9000789	Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus		ISO	RGD:1353739	D	RGD:7240710	20180130	OMIM			
8827924	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif 18	gene	DOID:9000789	Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus		ISO	RGD:1353739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADAMTS18-related condition | ClinVar Annotator: match by term: MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS | ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus	PMID:23818446|PMID:24874986|PMID:25741868|PMID:28492532
8827924	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827952	Mettl2a	methyltransferase 2A, tRNA N3-cytidine	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8827952	Mettl2a	methyltransferase 2A, tRNA N3-cytidine	gene	DOID:1909	melanoma		ISO	RGD:1601800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8827952	Mettl2a	methyltransferase 2A, tRNA N3-cytidine	gene	DOID:3275	thymoma		ISO	RGD:1601800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8827952	Mettl2a	methyltransferase 2A, tRNA N3-cytidine	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8827952	Mettl2a	methyltransferase 2A, tRNA N3-cytidine	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8827952	Mettl2a	methyltransferase 2A, tRNA N3-cytidine	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8827952	Mettl2a	methyltransferase 2A, tRNA N3-cytidine	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0050581	brachydactyly		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1318084	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868|PMID:26721934|PMID:28796471|PMID:32109419|PMID:33167890
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318084	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1318084	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0060249	scoliosis		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:37091313
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0060604	ankyloglossia		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ankyloglossia	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0061036	autosomal dominant intellectual developmental disorder 63 with macrocephaly		ISO	RGD:1318084	D	RGD:7240710	20200408	OMIM			
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0061036	autosomal dominant intellectual developmental disorder 63 with macrocephaly		ISO	RGD:1318084	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant TRIO-related disorders | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY	PMID:25741868|PMID:26721934|PMID:28492532|PMID:28796471|PMID:32109419|PMID:33167890|PMID:36987741
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0070074	autosomal dominant intellectual developmental disorder 44		ISO	RGD:1318084	D	RGD:7240710	20190315	OMIM			
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0070074	autosomal dominant intellectual developmental disorder 44		ISO	RGD:1318084	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY | ClinVar Annotator: match by term: TRIO-related condition | ClinVar Annotator: match by term: TRIO-related disorder	PMID:12551902|PMID:18388777|PMID:22495306|PMID:23033978|PMID:23934111|PMID:24038936|PMID:24896178|PMID:25363768|PMID:25741868|PMID:26721934|PMID:27418539|PMID:28191890|PMID:28492532|PMID:28796471|PMID:28928363|PMID:28973398|PMID:30850274|PMID:31690835|PMID:32109419|PMID:33167890|PMID:36937954|PMID:36987741|PMID:37091313
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0070074	autosomal dominant intellectual developmental disorder 44		ISO	RGD:1318084	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 44 | ClinVar Annotator: match by term: TRIO-Related Disorder | ClinVar Annotator: match by term: TRIO-related condition | ClinVar Annotator: match by term: TRIO-related disorder	PMID:22495306|PMID:25363768|PMID:25741868|PMID:26721934|PMID:27418539|PMID:28191890|PMID:28492532|PMID:28928363|PMID:28973398|PMID:32109419|PMID:36371492|PMID:36987741
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0080334	aortic valve disease 2		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic valve stenosis	PMID:25741868|PMID:36987741
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal cortical dysplasia	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0110486	autosomal recessive nonsyndromic deafness 28		ISO	RGD:1318084	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 28	PMID:18452394|PMID:25741868|PMID:28492532|PMID:32109419
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0110486	autosomal recessive nonsyndromic deafness 28		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 28	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0111428	essential tremor 1		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:10534	stomach cancer		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1059	intellectual disability		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868|PMID:31690835|PMID:32109419
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:10907	microcephaly		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:31209962|PMID:31690835|PMID:32581362|PMID:36987741
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:10944	tongue disease		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microglossia	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1115	sarcoma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:11193	syndactyly		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndactyly	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1283	enterocele		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:10652265|PMID:17391702
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:12849	autistic disorder		ISO	RGD:1318084	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autistic disorder	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:12849	autistic disorder		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1324	lung cancer		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:13994	cleidocranial dysplasia		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Large fontanelles	PMID:25741868|PMID:26721934|PMID:28492532
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1459	hypothyroidism		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1657	ventricular septal defect		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1712	aortic valve stenosis		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic valve stenosis	PMID:25741868|PMID:36987741
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1826	epilepsy		ISO	RGD:1318084	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1827	generalized epilepsy		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1909	melanoma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:2030	anxiety disorder		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:10652265|PMID:17391702
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:2340	craniosynostosis		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:2394	ovarian cancer		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:2769	tic disorder		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Phonic tics	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:2841	asthma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:2843	long QT syndrome		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prolonged QT interval	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:2846	bruxism		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bruxism	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:3070	high grade glioma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:3081	cystic lymphangioma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cystic hygroma	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:3310	atopic dermatitis		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868|PMID:31209962|PMID:36987741
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:4362	cervical cancer		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:17576681|PMID:28492532|PMID:9536098
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1318084	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:535	sleep disorder		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:31209962|PMID:36987741
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:540	strabismus		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:630	genetic disease		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10652265|PMID:17391702|PMID:22397991|PMID:25741868|PMID:26721934|PMID:28492532|PMID:31209962|PMID:32109419|PMID:33004838|PMID:36987741
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:8927	learning disability		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9000343	Vision Disorders		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9000495	Tremor		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9001031	Retrognathia		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9001366	Psychomotor Agitation		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Restlessness	PMID:25741868|PMID:31209962|PMID:36987741
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9001981	Weight Loss		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weight loss	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9002916	Hyperphagia		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9003133	Hypertelorism		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:26721934|PMID:28492532
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9003145	Nuchal Bleb, Familial		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal cystic hygroma	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9003566	Mesothelioma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9003748	Thumb Deformity		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumb deformity	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318084	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9004866	Ataxia		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Incoordination	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868|PMID:37091313
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9005616	Micrognathism		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:26721934|PMID:28492532
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9006637	Schizencephaly		ISO	RGD:1318084	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Schizencephaly	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1318084	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9007573	Flatfoot		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9007661	Dwarfism		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9007845	Encopresis		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encopresis	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental Delay | ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:10652265|PMID:17391702|PMID:25741868|PMID:31209962|PMID:36937954|PMID:36987741
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9008268	Enuresis		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enuresis	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:37091313
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9008582	Developmental Disease		ISO	RGD:1318084	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9008589	Hallux Valgus		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9008681	Deafness		ISO	RGD:1318084	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:25741868
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:93	language disorder		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9667	placental abruption		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Placental abruption	PMID:23033978|PMID:24038936|PMID:25741868|PMID:26721934|PMID:27418539|PMID:32109419
8827968	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9970	obesity		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
8828043	Agpat4	1-acylglycerol-3-phosphate O-acyltransferase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8828043	Agpat4	1-acylglycerol-3-phosphate O-acyltransferase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8828043	Agpat4	1-acylglycerol-3-phosphate O-acyltransferase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1354001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8828043	Agpat4	1-acylglycerol-3-phosphate O-acyltransferase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1354001	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8828043	Agpat4	1-acylglycerol-3-phosphate O-acyltransferase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828043	Agpat4	1-acylglycerol-3-phosphate O-acyltransferase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8828056	Kyat1	kynurenine aminotransferase 1	gene	DOID:305	carcinoma		ISO	RGD:1315794	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20663906
8828056	Kyat1	kynurenine aminotransferase 1	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1315794	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20663906
8828056	Kyat1	kynurenine aminotransferase 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1306912	D	RGD:9068941	20200609	RGD			PMID:16984225|REF_RGD_ID:2306289
8828083	Jazf1	JAZF zinc finger 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8828083	Jazf1	JAZF zinc finger 1	gene	DOID:1115	sarcoma		ISO	RGD:1604718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8828083	Jazf1	JAZF zinc finger 1	gene	DOID:3070	high grade glioma		ISO	RGD:1604718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8828083	Jazf1	JAZF zinc finger 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604718	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8828083	Jazf1	JAZF zinc finger 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828083	Jazf1	JAZF zinc finger 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1604718	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18264096
8828083	Jazf1	JAZF zinc finger 1	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1604718	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18264096
8828083	Jazf1	JAZF zinc finger 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1604718	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19838195
8828083	Jazf1	JAZF zinc finger 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8828083	Jazf1	JAZF zinc finger 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1604718	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18372903
8828092	Insm1	INSM transcriptional repressor 1	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1319934	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23582323
8828098	Rab37	RAB37, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8828098	Rab37	RAB37, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8828098	Rab37	RAB37, member RAS oncogene family	gene	DOID:10534	stomach cancer		ISO	RGD:1312361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8828098	Rab37	RAB37, member RAS oncogene family	gene	DOID:1115	sarcoma		ISO	RGD:1312361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8828098	Rab37	RAB37, member RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:1312361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8828098	Rab37	RAB37, member RAS oncogene family	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8828098	Rab37	RAB37, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828098	Rab37	RAB37, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8828098	Rab37	RAB37, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8828143	Gcnt3	glucosaminyl (N-acetyl) transferase 3, mucin type	gene	DOID:10534	stomach cancer		ISO	RGD:1344597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8828143	Gcnt3	glucosaminyl (N-acetyl) transferase 3, mucin type	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828143	Gcnt3	glucosaminyl (N-acetyl) transferase 3, mucin type	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8828162	Fam81a	family with sequence similarity 81 member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1603268	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8828162	Fam81a	family with sequence similarity 81 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828162	Fam81a	family with sequence similarity 81 member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8828162	Fam81a	family with sequence similarity 81 member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:737399	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:0060770	dextro-looped transposition of the great arteries	susceptibility	ISO	RGD:737399	D	RGD:9068941	20200609	RGD		DNA:SNP: : (rs1051266) (human)	PMID:22868813|REF_RGD_ID:11565105
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:0061080	immunodeficiency 114		ISO	RGD:737399	D	RGD:7240710	20231206	OMIM			
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:0061080	immunodeficiency 114		ISO	RGD:737399	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE	
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:1115	sarcoma		ISO	RGD:737399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:12365	malaria		ISO	RGD:737399	D	RGD:9068941	20210219	RGD		DNA:SNP::g.80G>A (human)	PMID:27198213|REF_RGD_ID:40903062
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:12849	autistic disorder		ISO	RGD:737399	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:16917939|PMID:20468076
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:1324	lung cancer		ISO	RGD:737399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	PMID:15457444|PMID:15677700|PMID:17325736|PMID:18322994|PMID:19827168|PMID:22450926|PMID:22992668|PMID:25227144|PMID:25741868|PMID:26616421|PMID:27992285|PMID:28492532|PMID:31099054
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:14250	Down syndrome		ISO	RGD:737399	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16845273|PMID:17431899
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:2531	hematologic cancer	ameliorates	ISO	RGD:737399	D	RGD:9068941	20210219	RGD		DNA:missense mutation:CDS:p.H27R (human)	PMID:21984221|REF_RGD_ID:10449413
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:3275	thymoma		ISO	RGD:737399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:737399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:15457444|PMID:15677700|PMID:17325736|PMID:18322994|PMID:19827168|PMID:22450926|PMID:22992668|PMID:25227144|PMID:25741868|PMID:26616421|PMID:27992285|PMID:28492532|PMID:31099054
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:657	adenoma		ISO	RGD:737399	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16963246
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:674	cleft palate		ISO	RGD:737399	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21254359
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:7693	abdominal aortic aneurysm	susceptibility	ISO	RGD:737399	D	RGD:9068941	20230831	RGD		DNA:SNP:: (rs3788205) (human)	PMID:18635682|REF_RGD_ID:329853746
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:784	chronic kidney disease		ISO	RGD:3695	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:multiple (rat)	PMID:21149507|REF_RGD_ID:7327184
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:863	nervous system disease		ISO	RGD:737399	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21064136
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:9002017	Folate-Responsive Megaloblastic Anemia		ISO	RGD:737399	D	RGD:7240710	20210414	OMIM			
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:9002017	Folate-Responsive Megaloblastic Anemia		ISO	RGD:737399	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: SLC19A1-related condition	PMID:25741868|PMID:28492532
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:9002033	Knobloch Syndrome		ISO	RGD:11543660	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Knobloch syndrome	PMID:25741868|PMID:26467025|PMID:28492532
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:9002801	Recurrence		ISO	RGD:737399	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17255265
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:737399	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15705887
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:737399	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:737399	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21064136
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:737399	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16963246
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:9296	cleft lip		ISO	RGD:737399	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21254359
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:9296	cleft lip	susceptibility	ISO	RGD:737399	D	RGD:9068941	20200609	RGD		DNA:SNP: :80G>A (human)	PMID:18797703|REF_RGD_ID:11565176
8828174	Slc19a1	solute carrier family 19 member 1	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:737399	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17255265
8828229	Mrpl18	mitochondrial ribosomal protein L18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8828229	Mrpl18	mitochondrial ribosomal protein L18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314973	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8828229	Mrpl18	mitochondrial ribosomal protein L18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8828229	Mrpl18	mitochondrial ribosomal protein L18	gene	DOID:1909	melanoma		ISO	RGD:1314973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8828229	Mrpl18	mitochondrial ribosomal protein L18	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8828229	Mrpl18	mitochondrial ribosomal protein L18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828229	Mrpl18	mitochondrial ribosomal protein L18	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8828229	Mrpl18	mitochondrial ribosomal protein L18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8828251	E2f2	E2F transcription factor 2	gene	DOID:0080600	COVID-19		ISO	RGD:1348982	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8828251	E2f2	E2F transcription factor 2	gene	DOID:3275	thymoma		ISO	RGD:1348982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8828251	E2f2	E2F transcription factor 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1348982	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29754146
8828251	E2f2	E2F transcription factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348982	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8828251	E2f2	E2F transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828251	E2f2	E2F transcription factor 2	gene	DOID:9000918	Disease Progression		ISO	RGD:1348982	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29754146
8828251	E2f2	E2F transcription factor 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1616520	D	RGD:9068941	20200609	RGD		E2f1/E2f2 double knockout	PMID:15146237|REF_RGD_ID:1300306
8828266	Pld3	phospholipase D family member 3	gene	DOID:0080288	spinocerebellar ataxia 46		ISO	RGD:1317914	D	RGD:7240710	20190315	OMIM			
8828266	Pld3	phospholipase D family member 3	gene	DOID:0080288	spinocerebellar ataxia 46		ISO	RGD:1317914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PLD3-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 46	PMID:25741868|PMID:26411346|PMID:28492532|PMID:29053796
8828266	Pld3	phospholipase D family member 3	gene	DOID:0080600	COVID-19		ISO	RGD:1317914	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8828266	Pld3	phospholipase D family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1317914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8828266	Pld3	phospholipase D family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1317914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8828266	Pld3	phospholipase D family member 3	gene	DOID:1909	melanoma		ISO	RGD:1317914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8828266	Pld3	phospholipase D family member 3	gene	DOID:3070	high grade glioma		ISO	RGD:1317914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8828266	Pld3	phospholipase D family member 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8828266	Pld3	phospholipase D family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828266	Pld3	phospholipase D family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8828266	Pld3	phospholipase D family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8828266	Pld3	phospholipase D family member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8828295	Rad51c	RAD51 paralog C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8828295	Rad51c	RAD51 paralog C	gene	DOID:0111096	Fanconi anemia complementation group O		ISO	RGD:1350974	D	RGD:7240710	20260729	OMIM			
8828295	Rad51c	RAD51 paralog C	gene	DOID:0111096	Fanconi anemia complementation group O		ISO	RGD:1350974	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group O | ClinVar Annotator: match by term: Fanconi anemia, complementation group O | ClinVar Annotator: match by term: RAD51C-related condition	PMID:12442171|PMID:12966089|PMID:14704354|PMID:15126333|PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20952512|PMID:21597919|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22406018|PMID:22451500|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25640679|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26467025|PMID:26534844|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149842|PMID:27230542|PMID:27328445|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27908594|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28492532|PMID:28588062|PMID:28678401|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28905878|PMID:28975465|PMID:29020732|PMID:29053726|PMID:29054568|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29758562|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30216591|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30551670|PMID:30847381|PMID:30875412|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31742824|PMID:31815095|PMID:31843900|PMID:31882575|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32658311|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:33047316|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33219106|PMID:33277227|PMID:33309985|PMID:33333735|PMID:33471991|PMID:33563768|PMID:33646313|PMID:33939675|PMID:34284872|PMID:34326862|PMID:34426522|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35658948|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36562461|PMID:36988593|PMID:37253112|PMID:37344587|PMID:37344589|PMID:37444530|PMID:37762649|PMID:38134886|PMID:38330859|PMID:38355628|PMID:38360632|PMID:38439815|PMID:38874686|PMID:39299233|PMID:40649708|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:10283	prostate cancer		ISO	RGD:1350974	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:20400964|PMID:22167183|PMID:22451500|PMID:22538716|PMID:24141787|PMID:24141797|PMID:24993905|PMID:25292178|PMID:25741868|PMID:26354865|PMID:27328445|PMID:28492532|PMID:35565380|PMID:36099300|PMID:37253112|PMID:37762649
8828295	Rad51c	RAD51 paralog C	gene	DOID:10534	stomach cancer		ISO	RGD:1350974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:22725699|PMID:25741868|PMID:26720728|PMID:26824983|PMID:28492532|PMID:29566657|PMID:30093976|PMID:30875412|PMID:31815095|PMID:33333735|PMID:33471991|PMID:33563768|PMID:35014770|PMID:36988593|PMID:38355628
8828295	Rad51c	RAD51 paralog C	gene	DOID:10907	microcephaly		ISO	RGD:1350974	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:33309985|PMID:37253112
8828295	Rad51c	RAD51 paralog C	gene	DOID:13636	Fanconi anemia		ISO	RGD:1350974	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:20400963
8828295	Rad51c	RAD51 paralog C	gene	DOID:13636	Fanconi anemia		ISO	RGD:8688738	D	RGD:9068941	20260521	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:20400964|PMID:20697805|PMID:20723205|PMID:21537932|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24504028|PMID:25085752|PMID:25086635|PMID:25470109|PMID:25741868|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26740214|PMID:27153395|PMID:28492532|PMID:32606146
8828295	Rad51c	RAD51 paralog C	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1350974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336|PMID:37253112
8828295	Rad51c	RAD51 paralog C	gene	DOID:1596	depressive disorder		ISO	RGD:1350974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:20400964|PMID:21990120|PMID:22006311|PMID:24240112|PMID:24800917|PMID:24993905|PMID:25741868|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26848151|PMID:27230542|PMID:28492532|PMID:29053726|PMID:29278735|PMID:29522266|PMID:29625052|PMID:29758562|PMID:29922827|PMID:30216591|PMID:32359370|PMID:32854451|PMID:33471991|PMID:35658948
8828295	Rad51c	RAD51 paralog C	gene	DOID:1612	breast cancer		ISO	RGD:1350974	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23149936|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29416752|PMID:29458332|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:31874108|PMID:32659497|PMID:32885271|PMID:33471991|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:1612	breast cancer		ISO	RGD:1350974	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29416752|PMID:29458332|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:31874108|PMID:32659497|PMID:32885271|PMID:33333735|PMID:33471991|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:1612	breast cancer		ISO	RGD:1350974	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30949688|PMID:31874108|PMID:32068069|PMID:32606146|PMID:32659497|PMID:32885271|PMID:33333735|PMID:33471991|PMID:33858678|PMID:35565380|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:1612	breast cancer		ISO	RGD:1350974	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29278735|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30949688|PMID:31874108|PMID:32068069|PMID:32606146|PMID:32659497|PMID:32885271|PMID:33333735|PMID:33471991|PMID:33858678|PMID:34326862|PMID:35039523|PMID:35565380|PMID:36099300|PMID:36562461|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:1612	breast cancer		ISO	RGD:1350974	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29278735|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30949688|PMID:31874108|PMID:32068069|PMID:32107557|PMID:32606146|PMID:32659497|PMID:32885271|PMID:33333735|PMID:33471991|PMID:33858678|PMID:34326862|PMID:35039523|PMID:35565380|PMID:35980532|PMID:36099300|PMID:36562461|PMID:37253112|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:1612	breast cancer		ISO	RGD:1350974	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24141787|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29278735|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30949688|PMID:31874108|PMID:32068069|PMID:32107557|PMID:32606146|PMID:32659497|PMID:32885271|PMID:33333735|PMID:33471991|PMID:33858678|PMID:34326862|PMID:35039523|PMID:35565380|PMID:35980532|PMID:36099300|PMID:36368728|PMID:36562461|PMID:37253112|PMID:37450374|PMID:37488098|PMID:39299233|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:1612	breast cancer		ISO	RGD:1350974	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17576681|PMID:20400964|PMID:21990120|PMID:22451500|PMID:22725699|PMID:23117857|PMID:24800917|PMID:24993905|PMID:25086635|PMID:25154786|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26467025|PMID:27433846|PMID:27622768|PMID:27913932|PMID:28024868|PMID:28492532|PMID:28829762|PMID:29255180|PMID:29278735|PMID:29409816|PMID:29659569|PMID:30322717|PMID:31125277|PMID:31300551|PMID:31784482|PMID:32885271|PMID:33008098|PMID:33011440|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:35039523|PMID:35155181|PMID:35264596|PMID:36099300|PMID:36329109|PMID:36451132|PMID:36988593|PMID:37253112|PMID:37444530|PMID:37843130|PMID:38915363|PMID:39256447|PMID:39299233|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:1964	fallopian tube cancer		ISO	RGD:1350974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: fallopian tube cancer	PMID:25741868
8828295	Rad51c	RAD51 paralog C	gene	DOID:1984	rectal benign neoplasm		ISO	RGD:1350974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rectal neoplasm	PMID:20400964|PMID:21990120|PMID:22006311|PMID:24240112|PMID:24800917|PMID:24993905|PMID:25741868|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26848151|PMID:27230542|PMID:28492532|PMID:29053726|PMID:29278735|PMID:29522266|PMID:29625052|PMID:29758562|PMID:29922827|PMID:30216591|PMID:32359370|PMID:32854451|PMID:33471991|PMID:35658948
8828295	Rad51c	RAD51 paralog C	gene	DOID:2030	anxiety disorder		ISO	RGD:1350974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:20400964|PMID:21990120|PMID:22006311|PMID:24240112|PMID:24800917|PMID:24993905|PMID:25741868|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26848151|PMID:27230542|PMID:28492532|PMID:29053726|PMID:29278735|PMID:29522266|PMID:29625052|PMID:29758562|PMID:29922827|PMID:30216591|PMID:32359370|PMID:32854451|PMID:33471991|PMID:35658948
8828295	Rad51c	RAD51 paralog C	gene	DOID:219	colon cancer		ISO	RGD:1350974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:20400964|PMID:21990120|PMID:22006311|PMID:24240112|PMID:24800917|PMID:24993905|PMID:25741868|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26848151|PMID:27230542|PMID:28492532|PMID:29053726|PMID:29278735|PMID:29522266|PMID:29625052|PMID:29758562|PMID:29922827|PMID:30216591|PMID:32359370|PMID:32854451|PMID:33471991|PMID:35658948
8828295	Rad51c	RAD51 paralog C	gene	DOID:2394	ovarian cancer		ISO	RGD:1350974	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Inherited ovarian cancer (without breast cancer) | ClinVar Annotator: match by term: Ovarian cancer	PMID:12966089|PMID:16199547|PMID:17576681|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20952512|PMID:21597919|PMID:21616938|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22451500|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24549055|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26354865|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26845104|PMID:26976419|PMID:27037238|PMID:27149842|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:28123851|PMID:28152038|PMID:28492532|PMID:28588062|PMID:28678401|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29566657|PMID:29641532|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30551670|PMID:30847381|PMID:30949688|PMID:30982232|PMID:31159747|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31843900|PMID:31882575|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32338768|PMID:32427313|PMID:32658311|PMID:32854451|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33077847|PMID:33309985|PMID:33333735|PMID:33471991|PMID:33606809|PMID:33858678|PMID:33939675|PMID:34284872|PMID:34326862|PMID:34426522|PMID:34923718|PMID:35039523|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35740625|PMID:36099300|PMID:36562461|PMID:37253112|PMID:37444530|PMID:37563628|PMID:37762649|PMID:38355628|PMID:39299233|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:2843	long QT syndrome		ISO	RGD:1350974	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:20400963|PMID:20400964|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22538716|PMID:24139550|PMID:24315737|PMID:24549055|PMID:24800917|PMID:25452441|PMID:25741868|PMID:26261251|PMID:26354865|PMID:26681312|PMID:28123851|PMID:28152038|PMID:28492532|PMID:28905878|PMID:29053726|PMID:29255180|PMID:33333735
8828295	Rad51c	RAD51 paralog C	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1350974	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:20400964|PMID:21990120|PMID:24800917|PMID:25741868|PMID:26681312|PMID:26687385|PMID:26822949|PMID:28492532|PMID:29278735
8828295	Rad51c	RAD51 paralog C	gene	DOID:3459	breast carcinoma		ISO	RGD:1350974	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:20400964|PMID:21990120|PMID:22006311|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24240112|PMID:24800917|PMID:24993905|PMID:25086635|PMID:25470109|PMID:25741868|PMID:26261251|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26848151|PMID:26976419|PMID:27230542|PMID:28492532|PMID:28588062|PMID:29053726|PMID:29278735|PMID:29470806|PMID:29522266|PMID:29625052|PMID:29758562|PMID:29922827|PMID:30216591|PMID:30847381|PMID:30949688|PMID:32359370|PMID:32658311|PMID:32854451|PMID:33077847|PMID:33471991|PMID:35658948|PMID:37253112|PMID:38439815
8828295	Rad51c	RAD51 paralog C	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1350974	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian carcinoma	PMID:20400964|PMID:21990120|PMID:22006311|PMID:24240112|PMID:24800917|PMID:24993905|PMID:25741868|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26720728|PMID:26822949|PMID:26848151|PMID:27230542|PMID:28492532|PMID:29053726|PMID:29278735|PMID:29522266|PMID:29625052|PMID:29758562|PMID:29922827|PMID:30216591|PMID:32359370|PMID:32854451|PMID:33471991|PMID:35658948
8828295	Rad51c	RAD51 paralog C	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1350974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:22476429|PMID:23117857|PMID:25741868|PMID:26261251|PMID:28492532|PMID:33471991|PMID:37253112
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:7240710	20260729	OMIM			
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32832836|PMID:32885271|PMID:32957588|PMID:33134171|PMID:33471991|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32832836|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33134171|PMID:33333735|PMID:33471991|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33134171|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:34426522|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33134171|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:34426522|PMID:35806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36988593|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:32986223|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36988593|PMID:37253112|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32986223|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36977404|PMID:36988593|PMID:37253112|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37344589|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37344589|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37344589|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37344589|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37344589|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37344589|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31078974|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35734982|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36368728|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37298034|PMID:37344589|PMID:37450374|PMID:37488098|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31078974|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35264596|PMID:35451682|PMID:35534704|PMID:35565380|PMID:35734982|PMID:35740625|PMID:35806449|PMID:35957908|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36368728|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37298034|PMID:37344589|PMID:37450374|PMID:37488098|PMID:37762649|PMID:39299233|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31078974|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31784482|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35264596|PMID:35451682|PMID:35534704|PMID:35565380|PMID:35734982|PMID:35740625|PMID:35806449|PMID:35957908|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36368728|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37298034|PMID:37344589|PMID:37444530|PMID:37450374|PMID:37488098|PMID:37762649|PMID:38355628|PMID:39299233|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31078974|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31784482|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570411|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35264596|PMID:35451682|PMID:35534704|PMID:35565380|PMID:35734982|PMID:35740625|PMID:35806449|PMID:35957908|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36368728|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37298034|PMID:37344589|PMID:37444530|PMID:37450374|PMID:37488098|PMID:37762649|PMID:38355628|PMID:38874686|PMID:39299233|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:12442171|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31078974|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31784482|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570411|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35264596|PMID:35451682|PMID:35534704|PMID:35565380|PMID:35658948|PMID:35734982|PMID:35740625|PMID:35806449|PMID:35957908|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36368728|PMID:36562461|PMID:36909564|PMID:36974006|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37298034|PMID:37344589|PMID:37444530|PMID:37450374|PMID:37488098|PMID:37563628|PMID:37762649|PMID:37843130|PMID:38136308|PMID:38355628|PMID:38874686|PMID:39299233|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:12442171|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31078974|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31784482|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34570411|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35264596|PMID:35451682|PMID:35534704|PMID:35565380|PMID:35658948|PMID:35734982|PMID:35740625|PMID:35806449|PMID:35957908|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36368728|PMID:36562461|PMID:36909564|PMID:36974006|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37298034|PMID:37344589|PMID:37444530|PMID:37450374|PMID:37488098|PMID:37563628|PMID:37762649|PMID:37843130|PMID:38136308|PMID:38355628|PMID:38874686|PMID:39299233|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:12442171|PMID:12966089|PMID:14704354|PMID:16199547|PMID:1731253|PMID:17576681|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22451500|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23704328|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149842|PMID:27230542|PMID:27328445|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27908594|PMID:27993330|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28649662|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28966033|PMID:29053726|PMID:29054568|PMID:29255180|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29758562|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30257646|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30875412|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31078974|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31472684|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31882575|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32809180|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32986223|PMID:33011440|PMID:33134171|PMID:33277227|PMID:33309985|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33563768|PMID:33606809|PMID:33858678|PMID:34284872|PMID:34326862|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35127508|PMID:35186721|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35658948|PMID:35740625|PMID:35957908|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37253112|PMID:37344587|PMID:37344589|PMID:37444530|PMID:37762649|PMID:38134886|PMID:38330859|PMID:38355628|PMID:38360632|PMID:38439815|PMID:39299233|PMID:39440754|PMID:40649708|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:12442171|PMID:12966089|PMID:14704354|PMID:16199547|PMID:1731253|PMID:17576681|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22451500|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23704328|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149842|PMID:27230542|PMID:27328445|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27908594|PMID:27993330|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28649662|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28966033|PMID:29053726|PMID:29054568|PMID:29255180|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29758562|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30257646|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30875412|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31078974|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31472684|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31882575|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32809180|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32986223|PMID:33011440|PMID:33134171|PMID:33277227|PMID:33309985|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33563768|PMID:33606809|PMID:33858678|PMID:34284872|PMID:34326862|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35127508|PMID:35186721|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35658948|PMID:35740625|PMID:35957908|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37253112|PMID:37344587|PMID:37344589|PMID:37444530|PMID:37762649|PMID:38134886|PMID:38330859|PMID:38355628|PMID:38360632|PMID:38439815|PMID:39299233|PMID:39440754|PMID:40649708|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:12442171|PMID:12966089|PMID:14704354|PMID:16199547|PMID:1731253|PMID:17576681|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22451500|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23704328|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25452441|PMID:25470109|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149842|PMID:27230542|PMID:27328445|PMID:27443514|PMID:27616075|PMID:27622768|PMID:27908594|PMID:27993330|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28588062|PMID:28649662|PMID:28709830|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28966033|PMID:29053726|PMID:29054568|PMID:29255180|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29758562|PMID:29922827|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30257646|PMID:30306255|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31472684|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32986223|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33277227|PMID:33309985|PMID:33333735|PMID:33471991|PMID:33563768|PMID:33606809|PMID:33858678|PMID:34284872|PMID:34326862|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35127508|PMID:35186721|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35658948|PMID:35740625|PMID:35884425|PMID:35957908|PMID:35980532|PMID:36099300|PMID:36169650|PMID:36243179|PMID:36562461|PMID:36988593|PMID:37253112|PMID:37344587|PMID:37344589|PMID:37444530|PMID:37762649|PMID:38134886|PMID:38330859|PMID:38355628|PMID:38360632|PMID:38439815|PMID:39299233|PMID:40649708|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:12442171|PMID:12966089|PMID:14704354|PMID:16199547|PMID:1731253|PMID:17576681|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22451500|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23704328|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149842|PMID:27230542|PMID:27328445|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27908594|PMID:27993330|PMID:28123851|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28966033|PMID:29053726|PMID:29054568|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29758562|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30257646|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31472684|PMID:31742824|PMID:31815095|PMID:31843900|PMID:31882575|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33277227|PMID:33309985|PMID:33333735|PMID:33471991|PMID:33563768|PMID:33939675|PMID:34284872|PMID:34326862|PMID:34426522|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35127508|PMID:35186721|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35658948|PMID:35740625|PMID:35957908|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36562461|PMID:36988593|PMID:37253112|PMID:37344587|PMID:37344589|PMID:37444530|PMID:37762649|PMID:38134886|PMID:38330859|PMID:38355628|PMID:38360632|PMID:38439815|PMID:39299233|PMID:40649708|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828295	Rad51c	RAD51 paralog C	gene	DOID:6741	bilateral breast cancer		ISO	RGD:1350974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma, bilateral	PMID:25741868|PMID:28492532
8828295	Rad51c	RAD51 paralog C	gene	DOID:6901	hereditary ovarian carcinoma		ISO	RGD:1350974	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Familial ovarian carcinoma	PMID:25741868|PMID:33832919|PMID:36099300|PMID:39299233
8828295	Rad51c	RAD51 paralog C	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1350974	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm	PMID:12966089|PMID:17576681|PMID:20400963|PMID:20400964|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22538716|PMID:24139550|PMID:24240112|PMID:24315737|PMID:24549055|PMID:24800917|PMID:24993905|PMID:25085752|PMID:25452441|PMID:25741868|PMID:26057125|PMID:26261251|PMID:26354865|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26720728|PMID:26822949|PMID:26848151|PMID:27230542|PMID:27616075|PMID:27621404|PMID:28123851|PMID:28152038|PMID:28492532|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29278735|PMID:29522266|PMID:29625052|PMID:29758562|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30216591|PMID:30257646|PMID:30374176|PMID:31843900|PMID:31882575|PMID:32359370|PMID:32854451|PMID:32957588|PMID:33333735|PMID:33471991|PMID:35658948|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12442171|PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23149936|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30924587|PMID:30927251|PMID:30949688|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31422574|PMID:31742824|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32885271|PMID:32957588|PMID:33471991|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12442171|PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30924587|PMID:30949688|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31422574|PMID:31742824|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33858678|PMID:34426522|PMID:35806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12442171|PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30924587|PMID:30949688|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31742824|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33858678|PMID:34426522|PMID:35806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34570441|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36988593|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:33011440|PMID:33077847|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34570441|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36988593|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34570441|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36562461|PMID:36988593|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34570441|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36562461|PMID:36988593|PMID:37253112|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:122156|PMID:1241858|PMID:12442171|PMID:12853621|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:2159791|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:122156|PMID:1241858|PMID:12442171|PMID:12853621|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:2159791|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:122156|PMID:1241858|PMID:12442171|PMID:12853621|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:2159791|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29758562|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37344589|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:122156|PMID:1241858|PMID:12442171|PMID:12853621|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:2159791|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37344589|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:122156|PMID:1241858|PMID:12442171|PMID:12853621|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:2159791|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37344589|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:122156|PMID:1241858|PMID:12442171|PMID:12853621|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:2159791|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31078974|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33042626|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35734982|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36368728|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37298034|PMID:37344589|PMID:37450374|PMID:37488098|PMID:38003901|PMID:38153744|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:122156|PMID:1241858|PMID:12442171|PMID:12853621|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:2159791|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31078974|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31784482|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33042626|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570411|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35264596|PMID:35451682|PMID:35534704|PMID:35565380|PMID:35734982|PMID:35740625|PMID:35806449|PMID:35957908|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36368728|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37298034|PMID:37344589|PMID:37444530|PMID:37450374|PMID:37488098|PMID:37762649|PMID:38003901|PMID:38153744|PMID:38355628|PMID:38874686|PMID:39299233|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12442171|PMID:12853621|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22451500|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23500037|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25452441|PMID:25470109|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26354865|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149842|PMID:27230542|PMID:27328445|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27908594|PMID:28125075|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29255180|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29758562|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30875412|PMID:30949688|PMID:30995915|PMID:31078974|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31882575|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32658311|PMID:32809180|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33277227|PMID:33309985|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33563768|PMID:33606809|PMID:33858678|PMID:34284872|PMID:34326862|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35127508|PMID:35186721|PMID:35264596|PMID:35451682|PMID:35534704|PMID:35565380|PMID:35658948|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36200007|PMID:36243179|PMID:36977404|PMID:36988593|PMID:37253112|PMID:37344587|PMID:37344589|PMID:37444530|PMID:37725924|PMID:37762649|PMID:38003901|PMID:38134886|PMID:38330859|PMID:38355628|PMID:38360632|PMID:38439815|PMID:39299233|PMID:39440754|PMID:40429818|PMID:40649708|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12442171|PMID:12853621|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22451500|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23500037|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25452441|PMID:25470109|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26354865|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149842|PMID:27230542|PMID:27328445|PMID:27498913|PMID:27616075|PMID:27622768|PMID:27908594|PMID:28125075|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28588062|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29255180|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29758562|PMID:29858219|PMID:29922827|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30257646|PMID:30322717|PMID:30426508|PMID:30551670|PMID:30847381|PMID:30875412|PMID:30949688|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32658311|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33077847|PMID:33277227|PMID:33309985|PMID:33333735|PMID:33471991|PMID:33563768|PMID:33606809|PMID:33858678|PMID:34284872|PMID:34326862|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35127508|PMID:35186721|PMID:35264596|PMID:35451682|PMID:35534704|PMID:35565380|PMID:35658948|PMID:35740625|PMID:35806449|PMID:35884425|PMID:35980532|PMID:36099300|PMID:36169650|PMID:36200007|PMID:36243179|PMID:36988593|PMID:37253112|PMID:37344587|PMID:37344589|PMID:37444530|PMID:37725924|PMID:37762649|PMID:38003901|PMID:38134886|PMID:38330859|PMID:38355628|PMID:38360632|PMID:38439815|PMID:39299233|PMID:40429818|PMID:40649708|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12442171|PMID:12853621|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22451500|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23500037|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26354865|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149842|PMID:27230542|PMID:27328445|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27908594|PMID:28007021|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28492532|PMID:28588062|PMID:28678401|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29758562|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30847381|PMID:30875412|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31742824|PMID:31815095|PMID:31843900|PMID:31882575|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32658311|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:33077847|PMID:33277227|PMID:33309985|PMID:33333735|PMID:33471991|PMID:33563768|PMID:33939675|PMID:34284872|PMID:34326862|PMID:34426522|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35127508|PMID:35186721|PMID:35264596|PMID:35451682|PMID:35534704|PMID:35565380|PMID:35658948|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36200007|PMID:36243179|PMID:36562461|PMID:36988593|PMID:37253112|PMID:37344587|PMID:37344589|PMID:37444530|PMID:37725924|PMID:37762649|PMID:38003901|PMID:38134886|PMID:38330859|PMID:38355628|PMID:38360632|PMID:38439815|PMID:39299233|PMID:40429818|PMID:40649708|PMID:5806449|PMID:9536098
8828295	Rad51c	RAD51 paralog C	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:1350974	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sudden cardiac death	PMID:20400963|PMID:20400964|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22538716|PMID:24139550|PMID:24315737|PMID:24549055|PMID:24800917|PMID:25452441|PMID:25741868|PMID:26261251|PMID:26354865|PMID:26681312|PMID:28123851|PMID:28152038|PMID:28492532|PMID:28905878|PMID:29053726|PMID:29255180|PMID:33333735
8828295	Rad51c	RAD51 paralog C	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1350974	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20400964|PMID:28825726
8828295	Rad51c	RAD51 paralog C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8828295	Rad51c	RAD51 paralog C	gene	DOID:9460	uterine corpus cancer		ISO	RGD:1350974	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus cancer	PMID:12966089|PMID:17576681|PMID:22538716|PMID:24139550|PMID:25085752|PMID:25741868|PMID:26057125|PMID:26467025|PMID:26681312|PMID:27616075|PMID:27621404|PMID:28492532|PMID:28905878|PMID:29255180|PMID:29978187|PMID:30086788|PMID:30257646|PMID:30374176|PMID:31843900|PMID:31882575|PMID:32854451|PMID:32957588|PMID:33333735|PMID:9536098
8828334	Fam117a	family with sequence similarity 117 member A	gene	DOID:1909	melanoma		ISO	RGD:1604587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8828334	Fam117a	family with sequence similarity 117 member A	gene	DOID:3275	thymoma		ISO	RGD:1604587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8828334	Fam117a	family with sequence similarity 117 member A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8828334	Fam117a	family with sequence similarity 117 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828334	Fam117a	family with sequence similarity 117 member A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8828334	Fam117a	family with sequence similarity 117 member A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8828334	Fam117a	family with sequence similarity 117 member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8828379	Pbrm1	polybromo 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
8828379	Pbrm1	polybromo 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8828379	Pbrm1	polybromo 1	gene	DOID:0060058	lymphoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8828379	Pbrm1	polybromo 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8828379	Pbrm1	polybromo 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8828379	Pbrm1	polybromo 1	gene	DOID:1115	sarcoma		ISO	RGD:1605656	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8828379	Pbrm1	polybromo 1	gene	DOID:1324	lung cancer		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	
8828379	Pbrm1	polybromo 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:28082722|PMID:35101336
8828379	Pbrm1	polybromo 1	gene	DOID:1909	melanoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8828379	Pbrm1	polybromo 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8828379	Pbrm1	polybromo 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8828379	Pbrm1	polybromo 1	gene	DOID:3275	thymoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8828379	Pbrm1	polybromo 1	gene	DOID:3495	extrahepatic bile duct adenocarcinoma	disease_progression	ISO	RGD:1605656	D	RGD:9068941	20210827	RGD			PMID:25536104|REF_RGD_ID:150340631
8828379	Pbrm1	polybromo 1	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1605656	D	RGD:9068941	20210827	RGD			PMID:32195359|REF_RGD_ID:150340625
8828379	Pbrm1	polybromo 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605656	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8828379	Pbrm1	polybromo 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1605656	D	RGD:7240710	20210707	OMIM			
8828379	Pbrm1	polybromo 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8828379	Pbrm1	polybromo 1	gene	DOID:4928	intrahepatic cholangiocarcinoma		ISO	RGD:1605656	D	RGD:9068941	20210827	RGD			PMID:27864835|REF_RGD_ID:150340628
8828379	Pbrm1	polybromo 1	gene	DOID:4928	intrahepatic cholangiocarcinoma	disease_progression	ISO	RGD:1605656	D	RGD:9068941	20220708	RGD		protein:increased expression:intrahepatic bile duct (human)	PMID:30377796|REF_RGD_ID:152998946
8828379	Pbrm1	polybromo 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8828379	Pbrm1	polybromo 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605656	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8828379	Pbrm1	polybromo 1	gene	DOID:5409	lung small cell carcinoma	disease_progression	ISO	RGD:1605656	D	RGD:9068941	20210827	RGD			PMID:29748005|REF_RGD_ID:127285383
8828379	Pbrm1	polybromo 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8828379	Pbrm1	polybromo 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828379	Pbrm1	polybromo 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8828379	Pbrm1	polybromo 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8828379	Pbrm1	polybromo 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8828379	Pbrm1	polybromo 1	gene	DOID:8778	Crohn's disease		ISO	RGD:1605656	D	RGD:9068941	20210827	RGD		mRNA:decreased expression:colon	PMID:28940253|REF_RGD_ID:150340627
8828379	Pbrm1	polybromo 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8828379	Pbrm1	polybromo 1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1565549	D	RGD:9068941	20200609	RGD		associated with Hypertension;protein:increased expression:heart left ventricle	PMID:23702776|REF_RGD_ID:9586349
8828379	Pbrm1	polybromo 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8828379	Pbrm1	polybromo 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605656	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary cancer	PMID:25741868
8828379	Pbrm1	polybromo 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8828379	Pbrm1	polybromo 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8828379	Pbrm1	polybromo 1	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:1605656	D	RGD:9068941	20210827	RGD			PMID:28940253|REF_RGD_ID:150340627
8828467	Ngrn	neugrin, neurite outgrowth associated	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8828467	Ngrn	neugrin, neurite outgrowth associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828474	Peli2	pellino E3 ubiquitin protein ligase family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8828474	Peli2	pellino E3 ubiquitin protein ligase family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1353013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8828474	Peli2	pellino E3 ubiquitin protein ligase family member 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1353013	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8828474	Peli2	pellino E3 ubiquitin protein ligase family member 2	gene	DOID:3275	thymoma		ISO	RGD:1353013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8828474	Peli2	pellino E3 ubiquitin protein ligase family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1353013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8828474	Peli2	pellino E3 ubiquitin protein ligase family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828474	Peli2	pellino E3 ubiquitin protein ligase family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8828474	Peli2	pellino E3 ubiquitin protein ligase family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8828491	Znf784	zinc finger protein 784	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8828491	Znf784	zinc finger protein 784	gene	DOID:1324	lung cancer		ISO	RGD:1602066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8828491	Znf784	zinc finger protein 784	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8828498	Slc25a16	solute carrier family 25 member 16	gene	DOID:0060207	amyotrophic lateral sclerosis type 16		ISO	RGD:1322697	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 16	
8828498	Slc25a16	solute carrier family 25 member 16	gene	DOID:0080683	nonsyndromic congenital nail disorder		ISO	RGD:1322697	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nail disorder, nonsyndromic congenital	
8828498	Slc25a16	solute carrier family 25 member 16	gene	DOID:1909	melanoma		ISO	RGD:1322697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8828498	Slc25a16	solute carrier family 25 member 16	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8828498	Slc25a16	solute carrier family 25 member 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828498	Slc25a16	solute carrier family 25 member 16	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8828498	Slc25a16	solute carrier family 25 member 16	gene	DOID:9005335	Cerebral Visual Impairment and Intellectual Disability		ISO	RGD:1322697	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability	PMID:26350515
8828498	Slc25a16	solute carrier family 25 member 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8828511	Stx1a	syntaxin 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:69485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8828511	Stx1a	syntaxin 1A	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:69485	D	RGD:9068941	20200609	RGD			PMID:11345516|REF_RGD_ID:1581432
8828511	Stx1a	syntaxin 1A	gene	DOID:10534	stomach cancer		ISO	RGD:69485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8828511	Stx1a	syntaxin 1A	gene	DOID:1059	intellectual disability		ISO	RGD:69485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:36564538
8828511	Stx1a	syntaxin 1A	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:69485	D	RGD:9068941	20200609	RGD			PMID:10842016|REF_RGD_ID:1581434
8828511	Stx1a	syntaxin 1A	gene	DOID:12849	autistic disorder		ISO	RGD:69485	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
8828511	Stx1a	syntaxin 1A	gene	DOID:150	disease of mental health		ISO	RGD:69486	D	RGD:9068941	20220825	MouseDO			
8828511	Stx1a	syntaxin 1A	gene	DOID:2234	focal epilepsy		ISO	RGD:69485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:36564538
8828511	Stx1a	syntaxin 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828511	Stx1a	syntaxin 1A	gene	DOID:630	genetic disease		ISO	RGD:69485	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8828511	Stx1a	syntaxin 1A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:69485	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
8828511	Stx1a	syntaxin 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8828511	Stx1a	syntaxin 1A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:69485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8828511	Stx1a	syntaxin 1A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69485	D	RGD:9068941	20250724	RGD		mRNA:decreased expression:islet	PMID:22939844|REF_RGD_ID:617256322
8828538	Vstm2a	V-set and transmembrane domain containing 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8828575	Phf11	PHD finger protein 11	gene	DOID:0080815	childhood-onset asthma	susceptibility	ISO	RGD:1321995	D	RGD:9068941	20260212	RGD		DNA:SNPs: :multiple	PMID:17702965|REF_RGD_ID:4891923
8828575	Phf11	PHD finger protein 11	gene	DOID:1205	allergic disease		ISO	RGD:1318252	D	RGD:9068941	20260212	RGD		DNA:SNP, haplotype: :rs3794379	PMID:20717939|REF_RGD_ID:632518397
8828575	Phf11	PHD finger protein 11	gene	DOID:2841	asthma		ISO	RGD:1318252	D	RGD:9068941	20260319	RGD		DNA:SNPs, haplotype:intron:rs7996994, rs7323716	PMID:20717939|REF_RGD_ID:632518397
8828575	Phf11	PHD finger protein 11	gene	DOID:2841	asthma	no_association	ISO	RGD:1321995	D	RGD:9068941	20260212	RGD		DNA:SNPs: :multiple	PMID:19386584|REF_RGD_ID:632518402
8828575	Phf11	PHD finger protein 11	gene	DOID:2841	asthma	severity	ISO	RGD:1321995	D	RGD:9068941	20260214	RGD		DNA:SNP:intron	PMID:12754510|REF_RGD_ID:632518413
8828575	Phf11	PHD finger protein 11	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1321995	D	RGD:9068941	20260212	RGD		DNA:SNPs, haplotype:3' utr:rs1046295, rs16659	PMID:19672052|REF_RGD_ID:4892275
8828575	Phf11	PHD finger protein 11	gene	DOID:3310	atopic dermatitis		ISO	RGD:1321995	D	RGD:9068941	20260212	RGD		DNA:SNPs:intron, 3' utr:rs2247119, rs1046295	PMID:15674390|REF_RGD_ID:632518401
8828591	Calr3	calreticulin 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532
8828591	Calr3	calreticulin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8828591	Calr3	calreticulin 3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1319475	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29988065|PMID:31513939|PMID:9536098
8828591	Calr3	calreticulin 3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1319475	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29988065|PMID:30847666|PMID:31513939|PMID:9536098
8828591	Calr3	calreticulin 3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1319475	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28087566|PMID:28166811|PMID:28492532|PMID:29988065|PMID:30847666|PMID:31513939|PMID:9536098
8828591	Calr3	calreticulin 3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1319475	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28087566|PMID:28492532|PMID:29544605|PMID:29988065|PMID:30847666|PMID:31513939|PMID:33057194|PMID:34127479|PMID:35982159|PMID:9536098
8828591	Calr3	calreticulin 3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1319475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:16199547|PMID:17576681|PMID:17655857|PMID:25640679|PMID:25741868|PMID:28087566|PMID:28492532|PMID:29544605|PMID:29988065|PMID:30847666|PMID:33057194|PMID:34127479|PMID:35982159|PMID:9536098
8828591	Calr3	calreticulin 3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1319475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:23861362|PMID:25741868|PMID:28492532|PMID:31513939
8828591	Calr3	calreticulin 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319475	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:28492532|PMID:29988065
8828591	Calr3	calreticulin 3	gene	DOID:9001172	FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19		ISO	RGD:1319475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 19	PMID:25741868|PMID:28492532|PMID:29988065|PMID:30847666
8828591	Calr3	calreticulin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8828615	Slc38a3	solute carrier family 38 member 3	gene	DOID:0050758	metabolic acidosis	treatment	ISO	RGD:628620	D	RGD:9068941	20200609	RGD			PMID:16954343|REF_RGD_ID:9999224
8828615	Slc38a3	solute carrier family 38 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8828615	Slc38a3	solute carrier family 38 member 3	gene	DOID:0070388	developmental and epileptic encephalopathy 102		ISO	RGD:730997	D	RGD:7240710	20220608	OMIM			
8828615	Slc38a3	solute carrier family 38 member 3	gene	DOID:0070388	developmental and epileptic encephalopathy 102		ISO	RGD:730997	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 102	PMID:25741868
8828615	Slc38a3	solute carrier family 38 member 3	gene	DOID:3070	high grade glioma		ISO	RGD:730997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8828615	Slc38a3	solute carrier family 38 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828615	Slc38a3	solute carrier family 38 member 3	gene	DOID:6039	uveal melanoma		ISO	RGD:730997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8828615	Slc38a3	solute carrier family 38 member 3	gene	DOID:630	genetic disease		ISO	RGD:730997	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8828615	Slc38a3	solute carrier family 38 member 3	gene	DOID:9005930	Endotoxemia		ISO	RGD:628620	D	RGD:9068941	20200609	RGD			PMID:20036385|REF_RGD_ID:9999227
8828615	Slc38a3	solute carrier family 38 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8828615	Slc38a3	solute carrier family 38 member 3	gene	DOID:9007090	Experimental Seizures		ISO	RGD:628620	D	RGD:9068941	20241214	RGD		mRNA:increased expression:hippocampus	PMID:21138736|REF_RGD_ID:9999229
8828615	Slc38a3	solute carrier family 38 member 3	gene	DOID:9007661	Dwarfism		ISO	RGD:730997	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
8828646	Znf143	zinc finger protein 143	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8828646	Znf143	zinc finger protein 143	gene	DOID:10534	stomach cancer		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8828646	Znf143	zinc finger protein 143	gene	DOID:1115	sarcoma		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8828646	Znf143	zinc finger protein 143	gene	DOID:1324	lung cancer		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8828646	Znf143	zinc finger protein 143	gene	DOID:1909	melanoma		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8828646	Znf143	zinc finger protein 143	gene	DOID:3070	high grade glioma		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8828646	Znf143	zinc finger protein 143	gene	DOID:4362	cervical cancer		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8828646	Znf143	zinc finger protein 143	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8828646	Znf143	zinc finger protein 143	gene	DOID:5041	esophageal cancer		ISO	RGD:1313824	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8828646	Znf143	zinc finger protein 143	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828646	Znf143	zinc finger protein 143	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1313824	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism	PMID:27349184
8828646	Znf143	zinc finger protein 143	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8828646	Znf143	zinc finger protein 143	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8828677	Cimap1a	ciliary microtubule associated protein 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8828677	Cimap1a	ciliary microtubule associated protein 1A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8828688	Slc2a8	solute carrier family 2 member 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:730862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8828688	Slc2a8	solute carrier family 2 member 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8828688	Slc2a8	solute carrier family 2 member 8	gene	DOID:1115	sarcoma		ISO	RGD:730862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8828688	Slc2a8	solute carrier family 2 member 8	gene	DOID:1324	lung cancer		ISO	RGD:730862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8828688	Slc2a8	solute carrier family 2 member 8	gene	DOID:1909	melanoma		ISO	RGD:730862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8828688	Slc2a8	solute carrier family 2 member 8	gene	DOID:3275	thymoma		ISO	RGD:730862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8828688	Slc2a8	solute carrier family 2 member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828688	Slc2a8	solute carrier family 2 member 8	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:730862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8828688	Slc2a8	solute carrier family 2 member 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8828688	Slc2a8	solute carrier family 2 member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8828688	Slc2a8	solute carrier family 2 member 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8828720	Rbm11	RNA binding motif protein 11	gene	DOID:1324	lung cancer		ISO	RGD:1313079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8828720	Rbm11	RNA binding motif protein 11	gene	DOID:1909	melanoma		ISO	RGD:1313079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8828720	Rbm11	RNA binding motif protein 11	gene	DOID:4362	cervical cancer		ISO	RGD:1313079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8828720	Rbm11	RNA binding motif protein 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8828720	Rbm11	RNA binding motif protein 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828720	Rbm11	RNA binding motif protein 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8828745	Gulp1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8828745	Gulp1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8828745	Gulp1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:3275	thymoma		ISO	RGD:1314963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8828745	Gulp1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:50	thyroid gland disease		ISO	RGD:1314963	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23397585
8828745	Gulp1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828745	Gulp1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1314963	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8828745	Gulp1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8828745	Gulp1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8828772	Tmem70	transmembrane protein 70	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
8828772	Tmem70	transmembrane protein 70	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1603032	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18953340
8828772	Tmem70	transmembrane protein 70	gene	DOID:0050737	autosomal recessive disease		ISO	RGD:1603032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive disease	PMID:25741868|PMID:28492532
8828772	Tmem70	transmembrane protein 70	gene	DOID:0050868	hepatocellular adenoma		ISO	RGD:1603032	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27914986
8828772	Tmem70	transmembrane protein 70	gene	DOID:0060331	mitochondrial complex V (ATP synthase) deficiency nuclear type 2		ISO	RGD:1603032	D	RGD:7240710	20180130	OMIM			
8828772	Tmem70	transmembrane protein 70	gene	DOID:0060331	mitochondrial complex V (ATP synthase) deficiency nuclear type 2		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, TMEM70 TYPE | ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2	PMID:16199547|PMID:17576681|PMID:1895334|PMID:18953340|PMID:20335238|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21147908|PMID:21815885|PMID:21945727|PMID:22433607|PMID:22986587|PMID:24033266|PMID:24485043|PMID:24740313|PMID:25326274|PMID:25741868|PMID:25825456|PMID:26467025|PMID:26550569|PMID:28492532|PMID:30724636|PMID:30899493|PMID:30950220|PMID:38703036|PMID:9536098
8828772	Tmem70	transmembrane protein 70	gene	DOID:0111143	mitochondrial complex V (ATP synthase) deficiency		ISO	RGD:1603032	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type	PMID:18953340|PMID:20335238|PMID:20920610|PMID:21147908|PMID:24033266|PMID:24485043|PMID:25326274|PMID:25741868|PMID:28492532
8828772	Tmem70	transmembrane protein 70	gene	DOID:10534	stomach cancer		ISO	RGD:1603032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8828772	Tmem70	transmembrane protein 70	gene	DOID:1059	intellectual disability		ISO	RGD:1603032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Severe intellectual disability	PMID:18953340|PMID:20335238|PMID:20920610|PMID:21147908|PMID:24033266|PMID:24485043|PMID:25326274|PMID:25741868|PMID:28492532
8828772	Tmem70	transmembrane protein 70	gene	DOID:10603	glucose intolerance		ISO	RGD:1603032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glucose intolerance	PMID:25741868|PMID:28492532
8828772	Tmem70	transmembrane protein 70	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1603032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868
8828772	Tmem70	transmembrane protein 70	gene	DOID:12215	oligohydramnios		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
8828772	Tmem70	transmembrane protein 70	gene	DOID:13316	exocrine pancreatic insufficiency		ISO	RGD:1603032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exocrine pancreatic insufficiency	PMID:25741868|PMID:28492532
8828772	Tmem70	transmembrane protein 70	gene	DOID:3650	lactic acidosis		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
8828772	Tmem70	transmembrane protein 70	gene	DOID:4080	tricuspid valve insufficiency		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Tricuspid regurgitation	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
8828772	Tmem70	transmembrane protein 70	gene	DOID:4362	cervical cancer		ISO	RGD:1603032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8828772	Tmem70	transmembrane protein 70	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828772	Tmem70	transmembrane protein 70	gene	DOID:630	genetic disease		ISO	RGD:1603032	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18953340|PMID:21147908|PMID:24740313|PMID:25741868|PMID:28492532
8828772	Tmem70	transmembrane protein 70	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8828772	Tmem70	transmembrane protein 70	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Abnormality of the mitochondrion	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
8828772	Tmem70	transmembrane protein 70	gene	DOID:890	mitochondrial encephalomyopathy		ISO	RGD:1603032	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18953340
8828772	Tmem70	transmembrane protein 70	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
8828772	Tmem70	transmembrane protein 70	gene	DOID:9002395	Hypothermia		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypothermia	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
8828772	Tmem70	transmembrane protein 70	gene	DOID:9003507	Premature Birth		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
8828772	Tmem70	transmembrane protein 70	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
8828772	Tmem70	transmembrane protein 70	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603032	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
8828772	Tmem70	transmembrane protein 70	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
8828772	Tmem70	transmembrane protein 70	gene	DOID:9006635	Hyponatremia		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hyponatremia	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
8828772	Tmem70	transmembrane protein 70	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603032	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8828772	Tmem70	transmembrane protein 70	gene	DOID:9008811	Tachypnea		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
8828778	Fbxo2	F-box protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8828778	Fbxo2	F-box protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8828778	Fbxo2	F-box protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:732900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8828778	Fbxo2	F-box protein 2	gene	DOID:2394	ovarian cancer		ISO	RGD:732900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8828778	Fbxo2	F-box protein 2	gene	DOID:3275	thymoma		ISO	RGD:732900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8828778	Fbxo2	F-box protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:732900	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8828778	Fbxo2	F-box protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828778	Fbxo2	F-box protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8828778	Fbxo2	F-box protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8828792	Ttc32	tetratricopeptide repeat domain 32	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8828792	Ttc32	tetratricopeptide repeat domain 32	gene	DOID:4362	cervical cancer		ISO	RGD:1605580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8828792	Ttc32	tetratricopeptide repeat domain 32	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828800	Gata5	GATA binding protein 5	gene	DOID:0050650	familial atrial fibrillation		ISO	RGD:1354270	D	RGD:9068941	20221006	RGD		DNA:mutations:cds: c.413A>T(p.Y138F), c.628T>G (p.C210G)(human)	PMID:23295592|REF_RGD_ID:155260349
8828800	Gata5	GATA binding protein 5	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1354270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532
8828800	Gata5	GATA binding protein 5	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1354270	D	RGD:9068941	20221006	RGD		DNA:mutation:cds:c.598T>G (p.W200G)(human)	PMID:23175127|REF_RGD_ID:155260351
8828800	Gata5	GATA binding protein 5	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1354270	D	RGD:9068941	20221006	RGD		DNA:mutations:cds:c.46T>G (p.Y16D), c.754A>C ((p.T252P)(human)	PMID:24638895|REF_RGD_ID:155260354
8828800	Gata5	GATA binding protein 5	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1558341	D	RGD:9068941	20230427	RGD			PMID:22536403|REF_RGD_ID:329337340
8828800	Gata5	GATA binding protein 5	gene	DOID:0080332	bicuspid aortic valve disease	exacerbates	ISO	RGD:1558341	D	RGD:9068941	20221006	RGD			PMID:21633169|REF_RGD_ID:155260352
8828800	Gata5	GATA binding protein 5	gene	DOID:1059	intellectual disability		ISO	RGD:1354270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
8828800	Gata5	GATA binding protein 5	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:1354270	D	RGD:9068941	20221006	RGD		DNA:SNPs:intron, exon:rs6061245,rs6587239 (human)	PMID:26617239|REF_RGD_ID:11343485
8828800	Gata5	GATA binding protein 5	gene	DOID:10825	essential hypertension		ISO	RGD:1558341	D	RGD:9068941	20220825	MouseDO		OMIM:145500 | OMIM:603918 | OMIM:604329 | OMIM:607329 | OMIM:608742 | OMIM:610261 | OMIM:610262 | OMIM:610948 | OMIM:611014	
8828800	Gata5	GATA binding protein 5	gene	DOID:10825	essential hypertension		ISO	RGD:1558341	D	RGD:9068941	20221006	RGD			PMID:26617239|REF_RGD_ID:11343485
8828800	Gata5	GATA binding protein 5	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1354270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532
8828800	Gata5	GATA binding protein 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1354270	D	RGD:9068941	20221006	RGD		DNA:mutation:cds;c.719G>A(p.Gly240Asp)(human)	PMID:25543888|REF_RGD_ID:155260333
8828800	Gata5	GATA binding protein 5	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354270	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:22641149|PMID:28492532
8828800	Gata5	GATA binding protein 5	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1354270	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
8828800	Gata5	GATA binding protein 5	gene	DOID:1657	ventricular septal defect		ISO	RGD:1354270	D	RGD:9068941	20221006	RGD		DNA:mutation:cds:c.595C>G (p.L199V)(human)	PMID:22961344|REF_RGD_ID:155260356
8828800	Gata5	GATA binding protein 5	gene	DOID:1657	ventricular septal defect		ISO	RGD:1558341	D	RGD:9068941	20230427	RGD			PMID:22536403|REF_RGD_ID:329337340
8828800	Gata5	GATA binding protein 5	gene	DOID:419	scleroderma		ISO	RGD:1354270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scleroderma	PMID:25741868|PMID:28492532
8828800	Gata5	GATA binding protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828800	Gata5	GATA binding protein 5	gene	DOID:62	aortic valve disease		ISO	RGD:1354270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic valve disorder	PMID:25741868|PMID:28387797|PMID:28492532|PMID:30675029
8828800	Gata5	GATA binding protein 5	gene	DOID:630	genetic disease		ISO	RGD:1354270	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22641149|PMID:23040494|PMID:25741868|PMID:27066509|PMID:28180938|PMID:28492532
8828800	Gata5	GATA binding protein 5	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1354270	D	RGD:9068941	20221006	RGD		DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human)	PMID:23289003|REF_RGD_ID:155260350
8828800	Gata5	GATA binding protein 5	gene	DOID:9001528	ARTERIAL DISSECTION		ISO	RGD:1354270	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Arterial dissection	PMID:28492532
8828800	Gata5	GATA binding protein 5	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1354270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:25741868|PMID:28492532
8828800	Gata5	GATA binding protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8828800	Gata5	GATA binding protein 5	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1354270	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19509152
8828800	Gata5	GATA binding protein 5	gene	DOID:9008565	Congenital Heart Defects, Multiple Types		ISO	RGD:1354270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart defects, multiple types	PMID:25741868
8828800	Gata5	GATA binding protein 5	gene	DOID:9009140	Congenital Heart Defects, Multiple Types, 5		ISO	RGD:1354270	D	RGD:7240710	20190612	OMIM			
8828800	Gata5	GATA binding protein 5	gene	DOID:9009140	Congenital Heart Defects, Multiple Types, 5		ISO	RGD:1354270	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 | ClinVar Annotator: match by term: Congenital heart defects, multiple types, 5 | ClinVar Annotator: match by term: GATA5-related condition	PMID:22641149|PMID:22961344|PMID:23031282|PMID:23040494|PMID:24638895|PMID:25543888|PMID:25741868|PMID:27066509|PMID:28074886|PMID:28180938|PMID:28492532|PMID:33270637
8828800	Gata5	GATA binding protein 5	gene	DOID:9408	acute myocardial infarction	susceptibility	ISO	RGD:1354270	D	RGD:9068941	20221006	RGD		DNA:SNPs:promoter:rs80197101, rs77067995 (human)	PMID:33684162|REF_RGD_ID:155260335
8828809	Pik3r4	phosphoinositide-3-kinase regulatory subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8828809	Pik3r4	phosphoinositide-3-kinase regulatory subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8828809	Pik3r4	phosphoinositide-3-kinase regulatory subunit 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8828809	Pik3r4	phosphoinositide-3-kinase regulatory subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8828809	Pik3r4	phosphoinositide-3-kinase regulatory subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8828809	Pik3r4	phosphoinositide-3-kinase regulatory subunit 4	gene	DOID:1909	melanoma		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8828809	Pik3r4	phosphoinositide-3-kinase regulatory subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8828809	Pik3r4	phosphoinositide-3-kinase regulatory subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828809	Pik3r4	phosphoinositide-3-kinase regulatory subunit 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8828809	Pik3r4	phosphoinositide-3-kinase regulatory subunit 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8828809	Pik3r4	phosphoinositide-3-kinase regulatory subunit 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8828809	Pik3r4	phosphoinositide-3-kinase regulatory subunit 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8828809	Pik3r4	phosphoinositide-3-kinase regulatory subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:0050855	renal fibrosis		ISO	RGD:731358	D	RGD:9068941	20200609	RGD			PMID:18809736|REF_RGD_ID:7241554
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:0070355	overactive bladder syndrome		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:15576455|REF_RGD_ID:1625040
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:10247	pleurisy		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:11853231|REF_RGD_ID:5129218
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:10763	hypertension		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:12025958|PMID:17988733|REF_RGD_ID:5129214|REF_RGD_ID:704378
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:10763	hypertension		ISO	RGD:730874	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:CDS:in American-Caucasians,T allele of SNP8, C allele of SNP12, T allele of SNP13	PMID:15643125|REF_RGD_ID:1625732
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:10952	nephritis		ISO	RGD:731358	D	RGD:9068941	20200609	RGD			PMID:18809736|REF_RGD_ID:7241554
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:18182225|REF_RGD_ID:5129227
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:11713	diabetic angiopathy		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:15878326|REF_RGD_ID:7241570
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:731358	D	RGD:9068941	20200609	RGD			PMID:21412216|REF_RGD_ID:7175321
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:1826	epilepsy		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:12746865|REF_RGD_ID:704381
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:2921	glomerulonephritis		ISO	RGD:730874	D	RGD:9068941	20200609	RGD			PMID:20448019|REF_RGD_ID:7241551
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:2921	glomerulonephritis		ISO	RGD:731358	D	RGD:9068941	20200609	RGD			PMID:20448019|REF_RGD_ID:7241551
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:730874	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15196965
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:730874	D	RGD:9068941	20200609	RGD			PMID:20451601|REF_RGD_ID:5129229
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:4483	rhinitis		ISO	RGD:730874	D	RGD:9068941	20200609	RGD			PMID:12165532|REF_RGD_ID:5129220
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:5844	myocardial infarction		ISO	RGD:620401	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:12489796|REF_RGD_ID:704379
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:783	end stage renal disease		ISO	RGD:730874	D	RGD:9068941	20200609	RGD			PMID:10604543|REF_RGD_ID:7241582
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:783	end stage renal disease	no_association	ISO	RGD:730874	D	RGD:9068941	20200609	RGD		DNA: SNP: G(-699)C	PMID:10809796|REF_RGD_ID:7241561
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:783	end stage renal disease	resistance	ISO	RGD:730874	D	RGD:9068941	20200609	RGD		DNA: SNP: G-699-->C	PMID:9555662|REF_RGD_ID:7241560
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:8947	diabetic retinopathy	treatment	ISO	RGD:620401	D	RGD:9068941	20200716	RGD		associated with Diabetes Mellitus, Experimental	PMID:18311190|REF_RGD_ID:2313334
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:9000197	Edema	severity	ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:12411434|REF_RGD_ID:628496
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:9000352	Vascular System Injuries		ISO	RGD:730874	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16982965
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:9000641	Pain		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:17988733|REF_RGD_ID:5129214
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:9000641	Pain		ISO	RGD:730874	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20152050
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:9000784	Fibrosis		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:15253105|REF_RGD_ID:1625759
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:12927641|REF_RGD_ID:1579989
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:730874	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17989505|PMID:19300402|PMID:19815945
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:731358	D	RGD:9068941	20200609	RGD			PMID:12637034|REF_RGD_ID:7241581
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:15001555|REF_RGD_ID:1625760
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:9002661	Diabetes Complications		ISO	RGD:731358	D	RGD:9068941	20200609	RGD			PMID:20479236|REF_RGD_ID:7241550
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:9002720	Splenomegaly		ISO	RGD:730874	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20096676
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:620401	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:12489796|REF_RGD_ID:704379
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:9005372	Inflammation		ISO	RGD:730874	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20152050
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:12522068|REF_RGD_ID:704380
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620401	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:12489796|REF_RGD_ID:704379
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:730874	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21430409
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:731358	D	RGD:9068941	20200609	RGD			PMID:20092893|REF_RGD_ID:7241569
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:731358	D	RGD:9068941	20200609	RGD			PMID:18725957|REF_RGD_ID:7241559
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:17618300|PMID:17988733|REF_RGD_ID:5129214|REF_RGD_ID:5129217
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:9008887	Microvascular Angina		ISO	RGD:730874	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood, mononuclear cell	PMID:17852785|REF_RGD_ID:4890450
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:9743	diabetic neuropathy		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:20587056|REF_RGD_ID:5129222
8828839	Bdkrb1	bradykinin receptor B1	gene	DOID:9970	obesity		ISO	RGD:731358	D	RGD:9068941	20200609	RGD		ob/ob mice  mRNA:decreased expression:brown adipose tissue, heart  mRNA:increased expression:white adipose tissue, hypothalamus	PMID:17184856|REF_RGD_ID:1625733
8828854	Edem2	ER degradation enhancing alpha-mannosidase like protein 2	gene	DOID:5419	schizophrenia		ISO	RGD:1354312	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
8828872	Noxa1	NADPH oxidase activator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8828872	Noxa1	NADPH oxidase activator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8828872	Noxa1	NADPH oxidase activator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8828872	Noxa1	NADPH oxidase activator 1	gene	DOID:1324	lung cancer		ISO	RGD:1315446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8828872	Noxa1	NADPH oxidase activator 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8828872	Noxa1	NADPH oxidase activator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315446	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8828872	Noxa1	NADPH oxidase activator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8828872	Noxa1	NADPH oxidase activator 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8828872	Noxa1	NADPH oxidase activator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828872	Noxa1	NADPH oxidase activator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8828872	Noxa1	NADPH oxidase activator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8828872	Noxa1	NADPH oxidase activator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8828891	Acan	aggrecan	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8828891	Acan	aggrecan	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Maturity-onset diabetes of the young	PMID:16080123|PMID:24762113|PMID:25741868|PMID:28492532
8828891	Acan	aggrecan	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8828891	Acan	aggrecan	gene	DOID:0051061	stroke	treatment	ISO	RGD:68358	D	RGD:9068941	20200609	RGD			PMID:24664200|REF_RGD_ID:11570545
8828891	Acan	aggrecan	gene	DOID:0111390	mucopolysaccharidosis Ih		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysostosis multiplex	PMID:25741868
8828891	Acan	aggrecan	gene	DOID:0112280	spondyloepiphyseal dysplasia		ISO	RGD:68507	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia	PMID:25741868
8828891	Acan	aggrecan	gene	DOID:0112282	spondyloepiphyseal dysplasia Kimberley type		ISO	RGD:68507	D	RGD:7240710	20180130	OMIM			
8828891	Acan	aggrecan	gene	DOID:0112282	spondyloepiphyseal dysplasia Kimberley type		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, Kimberley type	PMID:16080123|PMID:16199547|PMID:24762113|PMID:25741868|PMID:27870580|PMID:28492532|PMID:33471655
8828891	Acan	aggrecan	gene	DOID:10316	pneumoconiosis		ISO	RGD:68507	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25445010
8828891	Acan	aggrecan	gene	DOID:10534	stomach cancer		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8828891	Acan	aggrecan	gene	DOID:10584	retinitis pigmentosa	treatment	ISO	RGD:735902	D	RGD:9068941	20200609	RGD			PMID:25646031|REF_RGD_ID:11570529
8828891	Acan	aggrecan	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8828891	Acan	aggrecan	gene	DOID:11727	facioscapulohumeral muscular dystrophy		ISO	RGD:68507	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12868502
8828891	Acan	aggrecan	gene	DOID:1824	status epilepticus		ISO	RGD:68358	D	RGD:9068941	20200609	RGD			PMID:22934955|REF_RGD_ID:11570543
8828891	Acan	aggrecan	gene	DOID:1909	melanoma		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8828891	Acan	aggrecan	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868
8828891	Acan	aggrecan	gene	DOID:234	colon adenocarcinoma		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8828891	Acan	aggrecan	gene	DOID:2377	multiple sclerosis		ISO	RGD:68507	D	RGD:9068941	20200609	RGD		protein:altered expression:central nervous system, plaque (human)	PMID:11764092|REF_RGD_ID:2315836
8828891	Acan	aggrecan	gene	DOID:4362	cervical cancer		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8828891	Acan	aggrecan	gene	DOID:4480	achondroplasia		ISO	RGD:735902	D	RGD:9068941	20220825	MouseDO		OMIM:100800	
8828891	Acan	aggrecan	gene	DOID:6000	congestive heart failure		ISO	RGD:68358	D	RGD:9068941	20200609	RGD		mRNA:increased expression:myocardium	PMID:24595230|REF_RGD_ID:11570548
8828891	Acan	aggrecan	gene	DOID:630	genetic disease		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16080123|PMID:24762113|PMID:25419514|PMID:25741868|PMID:27870580|PMID:28492532
8828891	Acan	aggrecan	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:68507	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15292528
8828891	Acan	aggrecan	gene	DOID:7148	rheumatoid arthritis	disease_progression	ISO	RGD:68507	D	RGD:9068941	20200609	RGD		protein:increased degradation:cartilage	PMID:16507130|REF_RGD_ID:11570537
8828891	Acan	aggrecan	gene	DOID:8398	osteoarthritis	treatment	ISO	RGD:68358	D	RGD:9068941	20200609	RGD			PMID:21853458|REF_RGD_ID:11570544
8828891	Acan	aggrecan	gene	DOID:8398	osteoarthritis	treatment	ISO	RGD:735902	D	RGD:9068941	20200609	RGD			PMID:22833446|REF_RGD_ID:11570535
8828891	Acan	aggrecan	gene	DOID:84	osteochondritis dissecans		ISO	RGD:68507	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Osteochondritis dissecans | ClinVar Annotator: match by term: osteochondritis dissecans	PMID:16080123|PMID:20137779|PMID:24762113|PMID:25741868|PMID:27870580|PMID:28492532|PMID:35330881
8828891	Acan	aggrecan	gene	DOID:90	degenerative disc disease		ISO	RGD:68358	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:intervertebral disk	PMID:24285589|REF_RGD_ID:11570539
8828891	Acan	aggrecan	gene	DOID:90	degenerative disc disease	treatment	ISO	RGD:68358	D	RGD:9068941	20200609	RGD		associated with Renal Insufficiency	PMID:19063844|REF_RGD_ID:10043178
8828891	Acan	aggrecan	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:68358	D	RGD:9068941	20200609	RGD		protein:altered expression:spinal cord (rat)	PMID:14769391|REF_RGD_ID:2315837
8828891	Acan	aggrecan	gene	DOID:9000998	Brain Injuries		ISO	RGD:68358	D	RGD:9068941	20200609	RGD		mRNA:increased expression:fascia dentata (rat)	PMID:18511192|REF_RGD_ID:2315807
8828891	Acan	aggrecan	gene	DOID:9001088	Spondyloepimetaphyseal Dysplasia, Aggrecan Type		ISO	RGD:68507	D	RGD:7240710	20180130	OMIM			
8828891	Acan	aggrecan	gene	DOID:9001088	Spondyloepimetaphyseal Dysplasia, Aggrecan Type		ISO	RGD:68507	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SEMD, AGGRECAN TYPE | ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, aggrecan type	PMID:11942407|PMID:16080123|PMID:19110214|PMID:24762113|PMID:25741868|PMID:27870580|PMID:28492532|PMID:32871652|PMID:40987814
8828891	Acan	aggrecan	gene	DOID:9001680	SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS		ISO	RGD:68507	D	RGD:7240710	20180130	OMIM			
8828891	Acan	aggrecan	gene	DOID:9001680	SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS		ISO	RGD:68507	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SHORT STATURE AND ADVANCED BONE AGE | ClinVar Annotator: match by term: SHORT STATURE AND ADVANCED BONE AGE, WITH EARLY-ONSET OSTEOARTHRITIS | ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | ClinVar Annotator: match by term: Short stature-advanced bone age-early-onset osteoarthritis syndrome	PMID:16080123|PMID:16199547|PMID:17576681|PMID:24762113|PMID:25741868|PMID:27870580|PMID:28492532|PMID:29769040|PMID:31841439|PMID:33471655|PMID:34922359|PMID:36714562|PMID:38613222|PMID:9536098
8828891	Acan	aggrecan	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	
8828891	Acan	aggrecan	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:68358	D	RGD:9068941	20200609	RGD			PMID:25821409|REF_RGD_ID:12879456
8828891	Acan	aggrecan	gene	DOID:9003507	Premature Birth		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:16080123|PMID:16199547|PMID:24762113|PMID:25741868|PMID:28492532|PMID:33471655
8828891	Acan	aggrecan	gene	DOID:9006496	Lordosis		ISO	RGD:735902	D	RGD:9068941	20200609	RGD			PMID:9192671|REF_RGD_ID:1300269
8828891	Acan	aggrecan	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8828891	Acan	aggrecan	gene	DOID:9007661	Dwarfism		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16080123|PMID:24762113|PMID:25741868|PMID:28492532|PMID:38613222
8828891	Acan	aggrecan	gene	DOID:9008331	Tendon Injuries		ISO	RGD:68358	D	RGD:9068941	20200609	RGD		mRNA:increased expression:patellar ligament (rat)	PMID:19955224|REF_RGD_ID:2315073
8828891	Acan	aggrecan	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8828891	Acan	aggrecan	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:735902	D	RGD:9068941	20200609	RGD			PMID:9192671|REF_RGD_ID:1300269
8828891	Acan	aggrecan	gene	DOID:9849	Meniere's disease		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meniere disease | ClinVar Annotator: match by term: Ménière's disease	PMID:25419514
8828914	Nfib	nuclear factor I B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8828914	Nfib	nuclear factor I B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:733820	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8828914	Nfib	nuclear factor I B	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
8828914	Nfib	nuclear factor I B	gene	DOID:0060249	scoliosis		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
8828914	Nfib	nuclear factor I B	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:733820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
8828914	Nfib	nuclear factor I B	gene	DOID:1059	intellectual disability		ISO	RGD:733820	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:30388402
8828914	Nfib	nuclear factor I B	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:30388402
8828914	Nfib	nuclear factor I B	gene	DOID:1115	sarcoma		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8828914	Nfib	nuclear factor I B	gene	DOID:12849	autistic disorder		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
8828914	Nfib	nuclear factor I B	gene	DOID:1324	lung cancer		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8828914	Nfib	nuclear factor I B	gene	DOID:13929	lacrimal duct obstruction		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nasolacrimal duct obstruction	
8828914	Nfib	nuclear factor I B	gene	DOID:3275	thymoma		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8828914	Nfib	nuclear factor I B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8828914	Nfib	nuclear factor I B	gene	DOID:4362	cervical cancer		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8828914	Nfib	nuclear factor I B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8828914	Nfib	nuclear factor I B	gene	DOID:5041	esophageal cancer		ISO	RGD:733820	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8828914	Nfib	nuclear factor I B	gene	DOID:5419	schizophrenia		ISO	RGD:733820	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8828914	Nfib	nuclear factor I B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828914	Nfib	nuclear factor I B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8828914	Nfib	nuclear factor I B	gene	DOID:630	genetic disease		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8828914	Nfib	nuclear factor I B	gene	DOID:9001510	Funnel Chest		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:30388402
8828914	Nfib	nuclear factor I B	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
8828914	Nfib	nuclear factor I B	gene	DOID:9002787	MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT		ISO	RGD:733820	D	RGD:7240710	20201216	OMIM			
8828914	Nfib	nuclear factor I B	gene	DOID:9002787	MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT		ISO	RGD:733820	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: MACROCEPHALY, ACQUIRED, WITH MENTAL RETARDATION | ClinVar Annotator: match by term: Macrocephaly, acquired, with impaired intellectual development | ClinVar Annotator: match by term: NFIB-related condition	PMID:25741868|PMID:28492532|PMID:30388402|PMID:36756855
8828914	Nfib	nuclear factor I B	gene	DOID:9003539	Hyperacusis		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
8828914	Nfib	nuclear factor I B	gene	DOID:9003816	Macrocephaly		ISO	RGD:733820	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:30388402|PMID:32902921|PMID:33130023
8828914	Nfib	nuclear factor I B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:733820	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: Syndromic complex neurodevelopmental disorder	PMID:25741868
8828914	Nfib	nuclear factor I B	gene	DOID:9004538	Hearing Loss		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:30388402
8828914	Nfib	nuclear factor I B	gene	DOID:9005466	Language Development Disorders		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	
8828914	Nfib	nuclear factor I B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8828914	Nfib	nuclear factor I B	gene	DOID:9005616	Micrognathism		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:30388402
8828914	Nfib	nuclear factor I B	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:733820	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868|PMID:30388402
8828914	Nfib	nuclear factor I B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8828936	Washc4	WASH complex subunit 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8828936	Washc4	WASH complex subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8828936	Washc4	WASH complex subunit 4	gene	DOID:0081207	autosomal recessive intellectual developmental disorder 43		ISO	RGD:1603694	D	RGD:7240710	20180130	OMIM			
8828936	Washc4	WASH complex subunit 4	gene	DOID:0081207	autosomal recessive intellectual developmental disorder 43		ISO	RGD:1603694	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 43 | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 43 | ClinVar Annotator: match by term: WASHC4-related condition	PMID:25741868|PMID:28492532|PMID:31231135|PMID:31953988|PMID:34599609|PMID:35667337|PMID:37586840
8828936	Washc4	WASH complex subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8828936	Washc4	WASH complex subunit 4	gene	DOID:1059	intellectual disability		ISO	RGD:1603694	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868
8828936	Washc4	WASH complex subunit 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8828936	Washc4	WASH complex subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8828936	Washc4	WASH complex subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8828936	Washc4	WASH complex subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8828936	Washc4	WASH complex subunit 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1603694	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8828936	Washc4	WASH complex subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828936	Washc4	WASH complex subunit 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8828936	Washc4	WASH complex subunit 4	gene	DOID:9003566	Mesothelioma		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8828936	Washc4	WASH complex subunit 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8828936	Washc4	WASH complex subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8828936	Washc4	WASH complex subunit 4	gene	DOID:9169	Wiskott-Aldrich syndrome		ISO	RGD:1320642	D	RGD:9068941	20220825	MouseDO		OMIM:301000	
8828973	Gtf2b	general transcription factor IIB	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8828973	Gtf2b	general transcription factor IIB	gene	DOID:10534	stomach cancer		ISO	RGD:731364	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8828973	Gtf2b	general transcription factor IIB	gene	DOID:1324	lung cancer		ISO	RGD:731364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8828973	Gtf2b	general transcription factor IIB	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8828973	Gtf2b	general transcription factor IIB	gene	DOID:3275	thymoma		ISO	RGD:731364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8828973	Gtf2b	general transcription factor IIB	gene	DOID:4362	cervical cancer		ISO	RGD:731364	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8828973	Gtf2b	general transcription factor IIB	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8828973	Gtf2b	general transcription factor IIB	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8828973	Gtf2b	general transcription factor IIB	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8828973	Gtf2b	general transcription factor IIB	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8828984	Fgf4	fibroblast growth factor 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343486	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25822088
8828984	Fgf4	fibroblast growth factor 4	gene	DOID:9004883	Pilonidal Sinus		ISO	RGD:12382382	D	RGD:9068941	20250717	OMIA		Dermoid sinus	PMID:10713979|PMID:11002937|PMID:1481220|PMID:15736812|PMID:16573760|PMID:17422670|PMID:17906623|PMID:17906626|PMID:18704695|PMID:24593884|PMID:256350|PMID:26401330|PMID:2642687|PMID:30734666|PMID:33025601|PMID:34861369|PMID:35067986|PMID:35150843|PMID:36006348|PMID:37965842|PMID:4919487|PMID:5951011|PMID:7603060
8828984	Fgf4	fibroblast growth factor 4	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1343486	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21936542
8828984	Fgf4	fibroblast growth factor 4	gene	DOID:9009386	Short-Rib Thoracic Dysplasia 22 without Polydactyly		ISO	RGD:1343486	D	RGD:7240710	20251001	OMIM			
8828984	Fgf4	fibroblast growth factor 4	gene	DOID:9009386	Short-Rib Thoracic Dysplasia 22 without Polydactyly		ISO	RGD:1343486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short-rib thoracic dysplasia 22 without polydactyly	
8829005	Rnf7	ring finger protein 7	gene	DOID:10534	stomach cancer		ISO	RGD:1322298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8829005	Rnf7	ring finger protein 7	gene	DOID:1324	lung cancer		ISO	RGD:1322298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8829005	Rnf7	ring finger protein 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8829005	Rnf7	ring finger protein 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1322298	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8829005	Rnf7	ring finger protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829005	Rnf7	ring finger protein 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8829005	Rnf7	ring finger protein 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8829011	Psmd6	proteasome 26S subunit, non-ATPase 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351950	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8829011	Psmd6	proteasome 26S subunit, non-ATPase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8829011	Psmd6	proteasome 26S subunit, non-ATPase 6	gene	DOID:10534	stomach cancer		ISO	RGD:1351950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
8829011	Psmd6	proteasome 26S subunit, non-ATPase 6	gene	DOID:1115	sarcoma		ISO	RGD:1351950	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8829011	Psmd6	proteasome 26S subunit, non-ATPase 6	gene	DOID:1324	lung cancer		ISO	RGD:1351950	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8829011	Psmd6	proteasome 26S subunit, non-ATPase 6	gene	DOID:1909	melanoma		ISO	RGD:1351950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8829011	Psmd6	proteasome 26S subunit, non-ATPase 6	gene	DOID:3275	thymoma		ISO	RGD:1351950	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8829011	Psmd6	proteasome 26S subunit, non-ATPase 6	gene	DOID:4362	cervical cancer		ISO	RGD:1351950	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8829011	Psmd6	proteasome 26S subunit, non-ATPase 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8829011	Psmd6	proteasome 26S subunit, non-ATPase 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8829011	Psmd6	proteasome 26S subunit, non-ATPase 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1351950	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8829011	Psmd6	proteasome 26S subunit, non-ATPase 6	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1351950	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
8829011	Psmd6	proteasome 26S subunit, non-ATPase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829011	Psmd6	proteasome 26S subunit, non-ATPase 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8829011	Psmd6	proteasome 26S subunit, non-ATPase 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351950	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8829011	Psmd6	proteasome 26S subunit, non-ATPase 6	gene	DOID:8778	Crohn's disease		ISO	RGD:1351950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Crohn's disease	PMID:25741868
8829011	Psmd6	proteasome 26S subunit, non-ATPase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351950	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829011	Psmd6	proteasome 26S subunit, non-ATPase 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351950	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8829011	Psmd6	proteasome 26S subunit, non-ATPase 6	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1351950	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22158537
8829052	Lmtk3	lemur tail kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8829052	Lmtk3	lemur tail kinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1351306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8829052	Lmtk3	lemur tail kinase 3	gene	DOID:1059	intellectual disability		ISO	RGD:1351306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868
8829052	Lmtk3	lemur tail kinase 3	gene	DOID:1826	epilepsy		ISO	RGD:1351306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8829052	Lmtk3	lemur tail kinase 3	gene	DOID:3275	thymoma		ISO	RGD:1351306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8829052	Lmtk3	lemur tail kinase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1351306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8829052	Lmtk3	lemur tail kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829052	Lmtk3	lemur tail kinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8829052	Lmtk3	lemur tail kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829052	Lmtk3	lemur tail kinase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8829073	Prdx2	peroxiredoxin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8829073	Prdx2	peroxiredoxin 2	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:733019	D	RGD:9068941	20220908	RGD		protein:increased expression:saliva	PMID:29199150|REF_RGD_ID:153350131
8829073	Prdx2	peroxiredoxin 2	gene	DOID:10320	asbestosis		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22537621
8829073	Prdx2	peroxiredoxin 2	gene	DOID:10534	stomach cancer		ISO	RGD:733019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8829073	Prdx2	peroxiredoxin 2	gene	DOID:14250	Down syndrome		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11771762
8829073	Prdx2	peroxiredoxin 2	gene	DOID:1909	melanoma		ISO	RGD:733019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8829073	Prdx2	peroxiredoxin 2	gene	DOID:305	carcinoma		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8829073	Prdx2	peroxiredoxin 2	gene	DOID:3347	osteosarcoma		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23911960
8829073	Prdx2	peroxiredoxin 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8829073	Prdx2	peroxiredoxin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829073	Prdx2	peroxiredoxin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
8829073	Prdx2	peroxiredoxin 2	gene	DOID:8692	myeloid leukemia		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16932348
8829073	Prdx2	peroxiredoxin 2	gene	DOID:9000058	Keloid		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
8829073	Prdx2	peroxiredoxin 2	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15986332
8829073	Prdx2	peroxiredoxin 2	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8829073	Prdx2	peroxiredoxin 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17566973
8829073	Prdx2	peroxiredoxin 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23911960
8829073	Prdx2	peroxiredoxin 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8829073	Prdx2	peroxiredoxin 2	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:733019	D	RGD:9068941	20220909	RGD			PMID:23393224|REF_RGD_ID:153350137
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0050451	Brugada syndrome		ISO	RGD:732576	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:20817017|PMID:22840528|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:26707467|PMID:27650965|PMID:27711072|PMID:28492532|PMID:30027834|PMID:34222376
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732576	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:20817017|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25741868|PMID:27711072|PMID:28492532
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732576	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:20817017|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25650408|PMID:25741868|PMID:27711072|PMID:28492532
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732576	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:20817017|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25650408|PMID:25741868|PMID:27711072|PMID:28492532|PMID:35955449|PMID:37122210
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0050793	short QT syndrome		ISO	RGD:732576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short QT Syndrome 5	PMID:25741868|PMID:28492532
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:732576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0060319	cardiac arrest		ISO	RGD:732576	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiac arrest	PMID:17576681|PMID:25741868|PMID:28492532|PMID:28600387|PMID:9536098
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0060319	cardiac arrest		ISO	RGD:732576	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: Cardiac arrest	
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0110221	Brugada syndrome 4		ISO	RGD:732576	D	RGD:7240710	20180130	OMIM			
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0110221	Brugada syndrome 4		ISO	RGD:732576	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRUGADA SYNDROME 4 | ClinVar Annotator: match by term: Brugada syndrome 4 | ClinVar Annotator: match by term: CACNB2-related condition	PMID:17576681|PMID:20817017|PMID:22840528|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25637381|PMID:25741868|PMID:26220970|PMID:26230511|PMID:26636822|PMID:27662471|PMID:27707468|PMID:27711072|PMID:28341588|PMID:28492532|PMID:28600387|PMID:28704380|PMID:30415094|PMID:30847666|PMID:30975432|PMID:31887354|PMID:9536098
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:20817017|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:27711072|PMID:28492532
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:10273	heart conduction disease		ISO	RGD:732576	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Conduction system disorder	
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:732576	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs4373814(human)	PMID:24338417|REF_RGD_ID:13513987
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:1115	sarcoma		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:732576	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:20817017|PMID:22090166|PMID:23414114|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27711072|PMID:28492532|PMID:30821013|PMID:30847666
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:11984	hypertrophic cardiomyopathy	severity	ISO	RGD:732576	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:c.1598C>T (p.S533L)(human)	PMID:28614222|REF_RGD_ID:13513985
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:28492532
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:1324	lung cancer		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:1596	depressive disorder		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:20817017|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:27711072|PMID:28492532
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:2030	anxiety disorder		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:20817017|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:27711072|PMID:28492532
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:219	colon cancer		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:2843	long QT syndrome		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:20817017|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:27711072|PMID:28492532
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:3275	thymoma		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:4362	cervical cancer		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:5041	esophageal cancer		ISO	RGD:732576	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:20817017|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:27711072|PMID:28492532
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9000184	Ventricular Fibrillation		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation	PMID:28492532
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9001733	Tinnitus		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:20817017|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:27711072|PMID:28492532
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9003539	Hyperacusis		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:20817017|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:27711072|PMID:28492532
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9003740	Nerve Injuries		ISO	RGD:67385	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:dorsal root ganglion,spindal cord:	PMID:22187436|REF_RGD_ID:13514092
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9004416	Paroxysmal Ventricular Fibrillation		ISO	RGD:732576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation	PMID:20817017|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:20817017|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:27711072|PMID:28492532
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:732576	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:20817017|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:27711072|PMID:28492532
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:20817017|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:27711072|PMID:28492532
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9007736	Vertigo		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:20817017|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:27711072|PMID:28492532
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9007820	Sudden Death		ISO	RGD:732576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death	PMID:20817017|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sudden cardiac death	PMID:25741868|PMID:28492532
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8829084	Cacnb2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:0070776	impaired intellectual development and distinctive facial features with or without cardiac defects		ISO	RGD:736015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac anomalies - developmental delay - facial dysmorphism syndrome	PMID:25741868
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:621248	D	RGD:9068941	20230720	RGD			PMID:26394137|REF_RGD_ID:329955565
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:621248	D	RGD:9068941	20230914	RGD			PMID:28458350|REF_RGD_ID:401799674
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:10534	stomach cancer		ISO	RGD:736015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:1115	sarcoma		ISO	RGD:736015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:1324	lung cancer		ISO	RGD:736015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:1909	melanoma		ISO	RGD:736015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:1552388	D	RGD:9068941	20231019	RGD			PMID:33011372|REF_RGD_ID:401842381
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:2394	ovarian cancer		ISO	RGD:736015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:4362	cervical cancer		ISO	RGD:736015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:736015	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:6000	congestive heart failure		ISO	RGD:736015	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26670611
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736015	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21147110
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:9000701	Acetyl-Coa Carboxylase Deficiency		ISO	RGD:736015	D	RGD:7240710	20180130	OMIM			
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:9000701	Acetyl-Coa Carboxylase Deficiency		ISO	RGD:736015	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACACA-related condition | ClinVar Annotator: match by term: ACETYL-CoA CARBOXYLASE-ALPHA DEFICIENCY | ClinVar Annotator: match by term: acetyl-coa carboxylase deficiency	PMID:25741868|PMID:28492532|PMID:34552920
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:736015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:9006599	Hypertriglyceridemia	treatment	ISO	RGD:621248	D	RGD:9068941	20230720	RGD			PMID:26394137|REF_RGD_ID:329955565
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1552388	D	RGD:9068941	20230427	RGD		mRNA:increased expression:liver (mouse)	PMID:29684438|REF_RGD_ID:329333017
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:621248	D	RGD:9068941	20230914	RGD			PMID:27821167|REF_RGD_ID:401799622
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:9007692	Insulin Resistance		ISO	RGD:621248	D	RGD:9068941	20200609	RGD			PMID:16485039|REF_RGD_ID:1625727
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:621248	D	RGD:9068941	20230720	RGD			PMID:26394137|REF_RGD_ID:329955565
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8829137	Acaca	acetyl-CoA carboxylase alpha	gene	DOID:9452	steatotic liver disease		ISO	RGD:621248	D	RGD:9068941	20200609	RGD			PMID:16485039|REF_RGD_ID:1625727
8829206	Tank	TRAF family member associated NFKB activator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8829206	Tank	TRAF family member associated NFKB activator	gene	DOID:0080600	COVID-19		ISO	RGD:734196	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8829206	Tank	TRAF family member associated NFKB activator	gene	DOID:12849	autistic disorder		ISO	RGD:13610798	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autism	PMID:18414213
8829206	Tank	TRAF family member associated NFKB activator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829206	Tank	TRAF family member associated NFKB activator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8829206	Tank	TRAF family member associated NFKB activator	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:734196	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037
8829225	Atraid	all-trans retinoic acid induced differentiation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8829225	Atraid	all-trans retinoic acid induced differentiation factor	gene	DOID:3070	high grade glioma		ISO	RGD:1323150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8829225	Atraid	all-trans retinoic acid induced differentiation factor	gene	DOID:4362	cervical cancer		ISO	RGD:1323150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8829225	Atraid	all-trans retinoic acid induced differentiation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829225	Atraid	all-trans retinoic acid induced differentiation factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8829225	Atraid	all-trans retinoic acid induced differentiation factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829237	Pfkfb1	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8829237	Pfkfb1	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	gene	DOID:2018	hyperinsulinism		ISO	RGD:3307	D	RGD:9068941	20200609	RGD		associated with Obesity;protein:increased expression:liver	PMID:9705027|REF_RGD_ID:2302681
8829237	Pfkfb1	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8829237	Pfkfb1	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	gene	DOID:2843	long QT syndrome		ISO	RGD:732809	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	PMID:25741868
8829237	Pfkfb1	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8829237	Pfkfb1	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829266	Snx16	sorting nexin 16	gene	DOID:10534	stomach cancer		ISO	RGD:733907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8829266	Snx16	sorting nexin 16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8829266	Snx16	sorting nexin 16	gene	DOID:1115	sarcoma		ISO	RGD:733907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8829266	Snx16	sorting nexin 16	gene	DOID:1909	melanoma		ISO	RGD:733907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8829266	Snx16	sorting nexin 16	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8829266	Snx16	sorting nexin 16	gene	DOID:4362	cervical cancer		ISO	RGD:733907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8829266	Snx16	sorting nexin 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829266	Snx16	sorting nexin 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829266	Snx16	sorting nexin 16	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8829283	Slc9c1	solute carrier family 9 member C1	gene	DOID:10534	stomach cancer		ISO	RGD:1351436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8829283	Slc9c1	solute carrier family 9 member C1	gene	DOID:1115	sarcoma		ISO	RGD:1351436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8829283	Slc9c1	solute carrier family 9 member C1	gene	DOID:1324	lung cancer		ISO	RGD:1351436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8829283	Slc9c1	solute carrier family 9 member C1	gene	DOID:4362	cervical cancer		ISO	RGD:1351436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8829283	Slc9c1	solute carrier family 9 member C1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8829283	Slc9c1	solute carrier family 9 member C1	gene	DOID:5041	esophageal cancer		ISO	RGD:1351436	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8829283	Slc9c1	solute carrier family 9 member C1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829283	Slc9c1	solute carrier family 9 member C1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1347008	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23222957
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0050840	cervical dystonia		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868|PMID:28492532
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0051076	neurodevelopmental disorder with parkinsonism or other movement abnormalities		ISO	RGD:1347008	D	RGD:7240710	20260408	OMIM			
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0051076	neurodevelopmental disorder with parkinsonism or other movement abnormalities		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH PARKINSONISM OR OTHER MOVEMENT ABNORMALITIES	PMID:28492532
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0060356	Vici syndrome		ISO	RGD:1347008	D	RGD:7240710	20180130	OMIM			
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0060356	Vici syndrome		ISO	RGD:1347008	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: EPG5-related condition | ClinVar Annotator: match by term: VICI SYNDROME | ClinVar Annotator: match by term: Vici syndrome	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23222957|PMID:23674064|PMID:24033266|PMID:25331754|PMID:25640679|PMID:25741868|PMID:26854214|PMID:26917586|PMID:27343256|PMID:27577878|PMID:28168853|PMID:28333917|PMID:28492532|PMID:28615637|PMID:28939701|PMID:29130391|PMID:29159459|PMID:29983806|PMID:31130284|PMID:31184778|PMID:31625567|PMID:31981491|PMID:32313153|PMID:32558422|PMID:33255631|PMID:33303739|PMID:33365035|PMID:34405433|PMID:34645488|PMID:40192014|PMID:9536098
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0080833	laryngomalacia		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868|PMID:28492532
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:10534	stomach cancer		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1347008	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa, syndromic	
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:10907	microcephaly		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868|PMID:28492532
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:1324	lung cancer		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:1826	epilepsy		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:1891	optic nerve disease		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868|PMID:28492532
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:1909	melanoma		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:2234	focal epilepsy		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:28492532
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:2340	craniosynostosis		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:28492532
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1314820	D	RGD:9068941	20220825	MouseDO			
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1347008	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:540	strabismus		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1347008	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23222957
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:630	genetic disease		ISO	RGD:1347008	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23222957|PMID:23674064|PMID:25741868|PMID:28492532|PMID:31625567
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9001031	Retrognathia		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:28492532
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868|PMID:28492532
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:25741868|PMID:28492532
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:25741868|PMID:28492532
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9005660	Hypopigmentation		ISO	RGD:1347008	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23222957
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9007661	Dwarfism		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9008189	Pyelectasis		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:25741868|PMID:28492532
8829320	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8829381	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8829381	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8829381	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:1205	allergic disease		ISO	RGD:1344736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	
8829381	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:1612	breast cancer	severity	ISO	RGD:1344736	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:breast (human)	PMID:21837478|REF_RGD_ID:9588606
8829381	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1344736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8829381	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8829381	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1344736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8829381	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1344736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8829381	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1344736	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8829381	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829381	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829381	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8829381	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8829406	Grk6	G protein-coupled receptor kinase 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8829406	Grk6	G protein-coupled receptor kinase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8829406	Grk6	G protein-coupled receptor kinase 6	gene	DOID:14330	Parkinson's disease		ISO	RGD:1350771	D	RGD:9068941	20200609	RGD		human gene in rat model	PMID:22090514|REF_RGD_ID:5684916
8829406	Grk6	G protein-coupled receptor kinase 6	gene	DOID:14330	Parkinson's disease		ISO	RGD:61986	D	RGD:9068941	20200609	RGD		protein: decreased expression: brain	PMID:17996024|REF_RGD_ID:5685370
8829406	Grk6	G protein-coupled receptor kinase 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8829406	Grk6	G protein-coupled receptor kinase 6	gene	DOID:2559	opiate dependence		ISO	RGD:1350771	D	RGD:9068941	20231214	RGD		protein:decreased expression:pre-frontal cortex	PMID:14969742|REF_RGD_ID:401901596
8829406	Grk6	G protein-coupled receptor kinase 6	gene	DOID:4362	cervical cancer		ISO	RGD:1350771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8829406	Grk6	G protein-coupled receptor kinase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829406	Grk6	G protein-coupled receptor kinase 6	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1350771	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10094932
8829406	Grk6	G protein-coupled receptor kinase 6	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1350771	D	RGD:9068941	20200609	RGD		protein: decreased expression: mononuclear leukocytes	PMID:10094932|REF_RGD_ID:5688380
8829406	Grk6	G protein-coupled receptor kinase 6	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:62278	D	RGD:9068941	20200609	RGD		DNA: deletion: : homozygous	PMID:18662895|REF_RGD_ID:5688373
8829406	Grk6	G protein-coupled receptor kinase 6	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:61986	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord, neuron, microglial cell (rat)	PMID:23359120|REF_RGD_ID:13792782
8829406	Grk6	G protein-coupled receptor kinase 6	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:61986	D	RGD:9068941	20200609	RGD			PMID:23196710|REF_RGD_ID:13792785
8829406	Grk6	G protein-coupled receptor kinase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829406	Grk6	G protein-coupled receptor kinase 6	gene	DOID:9008394	Drug-Induced Dyskinesia		ISO	RGD:61986	D	RGD:9068941	20200609	RGD		associated with Parkinson Disease	PMID:20410529|REF_RGD_ID:5684919
8829406	Grk6	G protein-coupled receptor kinase 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8829452	Atxn1	ataxin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8829452	Atxn1	ataxin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8829452	Atxn1	ataxin 1	gene	DOID:0050954	spinocerebellar ataxia 1		ISO	RGD:1344585	D	RGD:7240710	20180725	OMIM			
8829452	Atxn1	ataxin 1	gene	DOID:0050954	spinocerebellar ataxia 1		ISO	RGD:1344585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ATXN1-related condition | ClinVar Annotator: match by term: SCHUT-HAYMAKER TYPE OPCA | ClinVar Annotator: match by term: Spinocerebellar ataxia type 1	PMID:25741868|PMID:37091313
8829452	Atxn1	ataxin 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1344585	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
8829452	Atxn1	ataxin 1	gene	DOID:1115	sarcoma		ISO	RGD:1344585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8829452	Atxn1	ataxin 1	gene	DOID:12849	autistic disorder		ISO	RGD:1344585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:21681106
8829452	Atxn1	ataxin 1	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1344585	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28182653
8829452	Atxn1	ataxin 1	gene	DOID:1909	melanoma		ISO	RGD:1344585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8829452	Atxn1	ataxin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8829452	Atxn1	ataxin 1	gene	DOID:5419	schizophrenia		ISO	RGD:1344585	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8829452	Atxn1	ataxin 1	gene	DOID:5679	retinal disease		ISO	RGD:1344585	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28182653
8829452	Atxn1	ataxin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829452	Atxn1	ataxin 1	gene	DOID:630	genetic disease		ISO	RGD:1344585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8829452	Atxn1	ataxin 1	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1344585	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11719269|PMID:16122429|PMID:17322884|PMID:18337722
8829452	Atxn1	ataxin 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8829452	Atxn1	ataxin 1	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1344585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:37091313
8829452	Atxn1	ataxin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8829468	Arl6ip4	ARF like GTPase 6 interacting protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8829468	Arl6ip4	ARF like GTPase 6 interacting protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1316976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8829468	Arl6ip4	ARF like GTPase 6 interacting protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1316976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8829468	Arl6ip4	ARF like GTPase 6 interacting protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1316976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8829468	Arl6ip4	ARF like GTPase 6 interacting protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829506	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8829506	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:10534	stomach cancer		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8829506	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:1115	sarcoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8829506	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:1324	lung cancer		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8829506	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:1909	melanoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8829506	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8829506	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:3275	thymoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8829506	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:4362	cervical cancer		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8829506	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8829506	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:5041	esophageal cancer		ISO	RGD:1319056	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8829506	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8829506	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829506	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829506	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8829506	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8829520	Pgap6	post-GPI attachment to proteins 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8829520	Pgap6	post-GPI attachment to proteins 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8829520	Pgap6	post-GPI attachment to proteins 6	gene	DOID:10534	stomach cancer		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8829520	Pgap6	post-GPI attachment to proteins 6	gene	DOID:1115	sarcoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8829520	Pgap6	post-GPI attachment to proteins 6	gene	DOID:1324	lung cancer		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8829520	Pgap6	post-GPI attachment to proteins 6	gene	DOID:1909	melanoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8829520	Pgap6	post-GPI attachment to proteins 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8829520	Pgap6	post-GPI attachment to proteins 6	gene	DOID:3275	thymoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8829520	Pgap6	post-GPI attachment to proteins 6	gene	DOID:4362	cervical cancer		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8829520	Pgap6	post-GPI attachment to proteins 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8829520	Pgap6	post-GPI attachment to proteins 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1322834	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8829520	Pgap6	post-GPI attachment to proteins 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8829520	Pgap6	post-GPI attachment to proteins 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829520	Pgap6	post-GPI attachment to proteins 6	gene	DOID:6039	uveal melanoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8829520	Pgap6	post-GPI attachment to proteins 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8829520	Pgap6	post-GPI attachment to proteins 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8829520	Pgap6	post-GPI attachment to proteins 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829520	Pgap6	post-GPI attachment to proteins 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8829520	Pgap6	post-GPI attachment to proteins 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8829544	Ppp6r1	protein phosphatase 6 regulatory subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8829544	Ppp6r1	protein phosphatase 6 regulatory subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8829544	Ppp6r1	protein phosphatase 6 regulatory subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
8829544	Ppp6r1	protein phosphatase 6 regulatory subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8829544	Ppp6r1	protein phosphatase 6 regulatory subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8829544	Ppp6r1	protein phosphatase 6 regulatory subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8829544	Ppp6r1	protein phosphatase 6 regulatory subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8829544	Ppp6r1	protein phosphatase 6 regulatory subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8829544	Ppp6r1	protein phosphatase 6 regulatory subunit 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8829544	Ppp6r1	protein phosphatase 6 regulatory subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829544	Ppp6r1	protein phosphatase 6 regulatory subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8829544	Ppp6r1	protein phosphatase 6 regulatory subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829544	Ppp6r1	protein phosphatase 6 regulatory subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8829544	Ppp6r1	protein phosphatase 6 regulatory subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8829581	FOXP1	forkhead box P1	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1318576	D	RGD:9068941	20250918	RGD		mRNA:decreased expression:lung	PMID:35693292|REF_RGD_ID:626469552
8829581	Foxp1	forkhead box P1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8829581	Foxp1	forkhead box P1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318576	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorders	PMID:25741868
8829581	Foxp1	forkhead box P1	gene	DOID:0070309	absence epilepsy		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:28492532
8829581	Foxp1	forkhead box P1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:31474318
8829581	Foxp1	forkhead box P1	gene	DOID:0080016	spina bifida		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spina bifida	PMID:28492532
8829581	Foxp1	forkhead box P1	gene	DOID:0080073	spina bifida occulta		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spina bifida occulta	
8829581	Foxp1	forkhead box P1	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1318576	D	RGD:9068941	20200609	RGD		protein:altered expression:neocortex (human)	PMID:22759905|REF_RGD_ID:11560525
8829581	Foxp1	forkhead box P1	gene	DOID:0110106	atrial heart septal defect 1		ISO	RGD:1318576	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Atrial septal defect 1	PMID:28492532
8829581	Foxp1	forkhead box P1	gene	DOID:0111331	intellectual disability-severe speech delay-mild dysmorphism syndrome		ISO	RGD:1318576	D	RGD:7240710	20180130	OMIM			
8829581	Foxp1	forkhead box P1	gene	DOID:0111331	intellectual disability-severe speech delay-mild dysmorphism syndrome		ISO	RGD:1318576	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FOXP1-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with language impairment AND with or without autistic features | ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES | ClinVar Annotator: match by term: Mental retardation with language impairment and autistic features | ClinVar Annotator: match by term: intellectual disability-severe speech delay-mild dysmorphism syndrome	PMID:16199547|PMID:17576681|PMID:19352412|PMID:20848658|PMID:20950788|PMID:25131622|PMID:25363768|PMID:25741868|PMID:25767709|PMID:26647308|PMID:27657687|PMID:27824329|PMID:28492532|PMID:28735298|PMID:29090079|PMID:30564305|PMID:31199603|PMID:31474318|PMID:33057194|PMID:34109629|PMID:34588003|PMID:35982159|PMID:36801247|PMID:37733892|PMID:38843839|PMID:40473777|PMID:9536098
8829581	Foxp1	forkhead box P1	gene	DOID:10376	amblyopia		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868
8829581	Foxp1	forkhead box P1	gene	DOID:1059	intellectual disability		ISO	RGD:1318576	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:26633542|PMID:26647308|PMID:28492532|PMID:28714951|PMID:28735298|PMID:28741757|PMID:31618753|PMID:34109629|PMID:34588003|PMID:38891897
8829581	Foxp1	forkhead box P1	gene	DOID:1059	intellectual disability		ISO	RGD:1318576	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:26647308|PMID:28492532|PMID:28735298
8829581	Foxp1	forkhead box P1	gene	DOID:10754	otitis media		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25741868|PMID:26647308|PMID:28492532
8829581	Foxp1	forkhead box P1	gene	DOID:10907	microcephaly		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:28492532
8829581	Foxp1	forkhead box P1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
8829581	Foxp1	forkhead box P1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8829581	Foxp1	forkhead box P1	gene	DOID:11111	hydronephrosis		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:28492532
8829581	Foxp1	forkhead box P1	gene	DOID:1115	sarcoma		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8829581	Foxp1	forkhead box P1	gene	DOID:11383	cryptorchidism		ISO	RGD:1318576	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:16199547|PMID:25741868|PMID:28492532|PMID:28735298
8829581	Foxp1	forkhead box P1	gene	DOID:12306	vitiligo		ISO	RGD:1318576	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20526340
8829581	Foxp1	forkhead box P1	gene	DOID:1255	trichostrongyloidiasis		ISO	RGD:1308669	D	RGD:9068941	20200609	RGD		mRNA:increased expression:duodenum (rat)	PMID:21698235|REF_RGD_ID:11561920
8829581	Foxp1	forkhead box P1	gene	DOID:1283	enterocele		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	
8829581	Foxp1	forkhead box P1	gene	DOID:12849	autistic disorder		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 2 | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:28735298
8829581	Foxp1	forkhead box P1	gene	DOID:12858	Huntington's disease		ISO	RGD:1318576	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:caudate nucleus (human)	PMID:16405510|REF_RGD_ID:11560524
8829581	Foxp1	forkhead box P1	gene	DOID:12858	Huntington's disease		ISO	RGD:1318577	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:striatum (mouse)	PMID:16405510|REF_RGD_ID:11560524
8829581	Foxp1	forkhead box P1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
8829581	Foxp1	forkhead box P1	gene	DOID:1324	lung cancer		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8829581	Foxp1	forkhead box P1	gene	DOID:1555	urticaria		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urticaria	PMID:25741868|PMID:26647308
8829581	Foxp1	forkhead box P1	gene	DOID:1682	congenital heart disease		ISO	RGD:1318576	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Heart, malformation of | ClinVar Annotator: match by term: congenital heart disease	PMID:25741868|PMID:28492532
8829581	Foxp1	forkhead box P1	gene	DOID:1793	pancreatic cancer		ISO	RGD:1318576	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25485836
8829581	Foxp1	forkhead box P1	gene	DOID:18	urinary system disease		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the urinary system	PMID:28492532
8829581	Foxp1	forkhead box P1	gene	DOID:1826	epilepsy		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8829581	Foxp1	forkhead box P1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
8829581	Foxp1	forkhead box P1	gene	DOID:1909	melanoma		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8829581	Foxp1	forkhead box P1	gene	DOID:1923	disorder of sexual development		ISO	RGD:1318576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Disorder of sexual differentiation	
8829581	Foxp1	forkhead box P1	gene	DOID:1969	cerebral palsy		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
8829581	Foxp1	forkhead box P1	gene	DOID:2030	anxiety disorder		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
8829581	Foxp1	forkhead box P1	gene	DOID:2234	focal epilepsy		ISO	RGD:1318576	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: focal epilepsy	PMID:25741868
8829581	Foxp1	forkhead box P1	gene	DOID:255	hemangioma		ISO	RGD:1318576	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glabellar hemangioma	PMID:25741868
8829581	Foxp1	forkhead box P1	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	
8829581	Foxp1	forkhead box P1	gene	DOID:2841	asthma		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
8829581	Foxp1	forkhead box P1	gene	DOID:327	syringomyelia		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syringomyelia	PMID:28492532
8829581	Foxp1	forkhead box P1	gene	DOID:3275	thymoma		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8829581	Foxp1	forkhead box P1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8829581	Foxp1	forkhead box P1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1318576	D	RGD:9068941	20220908	RGD		mRNA:decreased expression:lung (human)	PMID:22491060|REF_RGD_ID:153350086
8829581	Foxp1	forkhead box P1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1308669	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung (rat)	PMID:16023287|REF_RGD_ID:11561933
8829581	Foxp1	forkhead box P1	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:1318576	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24121790
8829581	Foxp1	forkhead box P1	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:1318576	D	RGD:9068941	20200609	RGD		DNA:snps:intron, enhancer:g.70959438A>G, g.70879779A>C (rs9837992, rs2687201) (human)	PMID:26383589|REF_RGD_ID:11535321
8829581	Foxp1	forkhead box P1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318576	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8829581	Foxp1	forkhead box P1	gene	DOID:535	sleep disorder		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:28492532
8829581	Foxp1	forkhead box P1	gene	DOID:540	strabismus		ISO	RGD:1318576	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8829581	Foxp1	forkhead box P1	gene	DOID:5419	schizophrenia		ISO	RGD:1318576	D	RGD:9068941	20200609	RGD		DNA:snp:intron:g.71205600C>T (rsrs7372960) (human)	PMID:26460480|REF_RGD_ID:11353286
8829581	Foxp1	forkhead box P1	gene	DOID:552	pneumonia		ISO	RGD:1318576	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:34109629|PMID:34588003
8829581	Foxp1	forkhead box P1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8829581	Foxp1	forkhead box P1	gene	DOID:5723	optic atrophy		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8829581	Foxp1	forkhead box P1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829581	Foxp1	forkhead box P1	gene	DOID:6000	congestive heart failure		ISO	RGD:1318576	D	RGD:9068941	20200609	RGD			PMID:16952980|REF_RGD_ID:1582564
8829581	Foxp1	forkhead box P1	gene	DOID:630	genetic disease		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20848658|PMID:20950788|PMID:25741868|PMID:26647308|PMID:28492532|PMID:28735298|PMID:29090079|PMID:30564305|PMID:34588003|PMID:35982159|PMID:38843839
8829581	Foxp1	forkhead box P1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1318576	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8829581	Foxp1	forkhead box P1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8829581	Foxp1	forkhead box P1	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1308669	D	RGD:9068941	20200609	RGD			PMID:25156538|REF_RGD_ID:9587823
8829581	Foxp1	forkhead box P1	gene	DOID:8283	peritonitis		ISO	RGD:1318576	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:18799727|REF_RGD_ID:11561898
8829581	Foxp1	forkhead box P1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1318576	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:28492532
8829581	Foxp1	forkhead box P1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1318576	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25485836
8829581	Foxp1	forkhead box P1	gene	DOID:9000998	Brain Injuries	treatment	ISO	RGD:1308669	D	RGD:9068941	20200609	RGD			PMID:26842647|REF_RGD_ID:11561903
8829581	Foxp1	forkhead box P1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:26647308
8829581	Foxp1	forkhead box P1	gene	DOID:9002079	Paresis		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiparesis	PMID:25741868
8829581	Foxp1	forkhead box P1	gene	DOID:9002569	Overweight		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:25741868
8829581	Foxp1	forkhead box P1	gene	DOID:9003132	Sialorrhea		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:28492532|PMID:28735298
8829581	Foxp1	forkhead box P1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:28492532|PMID:28735298
8829581	Foxp1	forkhead box P1	gene	DOID:9003507	Premature Birth		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
8829581	Foxp1	forkhead box P1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:26647308|PMID:28492532|PMID:28735298
8829581	Foxp1	forkhead box P1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318576	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8829581	Foxp1	forkhead box P1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1318576	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25485836
8829581	Foxp1	forkhead box P1	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonic seizure	PMID:28492532
8829581	Foxp1	forkhead box P1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:26647308|PMID:28492532
8829581	Foxp1	forkhead box P1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318576	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:16199547|PMID:25741868|PMID:26647308|PMID:28492532|PMID:28735298
8829581	Foxp1	forkhead box P1	gene	DOID:9005616	Micrognathism		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:28492532
8829581	Foxp1	forkhead box P1	gene	DOID:9007661	Dwarfism		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:26647308
8829581	Foxp1	forkhead box P1	gene	DOID:9007892	Tics		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tics	PMID:25741868|PMID:26647308|PMID:28492532
8829581	Foxp1	forkhead box P1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318576	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16199547|PMID:25741868|PMID:28492532|PMID:28735298
8829581	Foxp1	forkhead box P1	gene	DOID:9008237	Hemimegalencephaly		ISO	RGD:1318576	D	RGD:9068941	20200609	RGD		protein:altered expression:neocortex (human)	PMID:22759905|REF_RGD_ID:11560525
8829581	Foxp1	forkhead box P1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1318576	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868|PMID:30564305
8829581	Foxp1	forkhead box P1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8829581	Foxp1	forkhead box P1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:28492532
8829581	Foxp1	forkhead box P1	gene	DOID:9206	Barrett's esophagus		ISO	RGD:1318576	D	RGD:9068941	20200609	RGD		DNA:snp:enhancer:g.70879779A>C (rs2687201) (human)	PMID:25447851|REF_RGD_ID:11560527
8829581	Foxp1	forkhead box P1	gene	DOID:93	language disorder		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:25741868
8829581	Foxp1	forkhead box P1	gene	DOID:9574	choanal atresia		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Choanal atresia	PMID:25741868
8829581	Foxp1	forkhead box P1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
8829581	Foxp1	forkhead box P1	gene	DOID:9834	hyperopia		ISO	RGD:1318576	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
8829581	Foxp1	forkhead box P1	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1318576	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:interatrial septum (human)	PMID:18344372|REF_RGD_ID:11561899
8829652	Fbp1	fructose-bisphosphatase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8829652	Fbp1	fructose-bisphosphatase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8829652	Fbp1	fructose-bisphosphatase 1	gene	DOID:1115	sarcoma		ISO	RGD:735552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8829652	Fbp1	fructose-bisphosphatase 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:735552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18353766
8829652	Fbp1	fructose-bisphosphatase 1	gene	DOID:2747	glycogen storage disease		ISO	RGD:735552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glycogen storage disease	
8829652	Fbp1	fructose-bisphosphatase 1	gene	DOID:3650	lactic acidosis		ISO	RGD:735552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868
8829652	Fbp1	fructose-bisphosphatase 1	gene	DOID:5204	fructose-1,6-bisphosphatase deficiency		ISO	RGD:735552	D	RGD:7240710	20180130	OMIM			
8829652	Fbp1	fructose-bisphosphatase 1	gene	DOID:5204	fructose-1,6-bisphosphatase deficiency		ISO	RGD:735552	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Fructose-biphosphatase deficiency	PMID:11286391|PMID:12126934|PMID:17576681|PMID:19259699|PMID:20096900|PMID:23881342|PMID:25601412|PMID:25741868|PMID:26549536|PMID:27101822|PMID:28420223|PMID:28492532|PMID:28776561|PMID:29016355|PMID:29203193|PMID:29774539|PMID:29774540|PMID:29774541|PMID:29774542|PMID:29774543|PMID:29774544|PMID:29774545|PMID:30193751|PMID:30858132|PMID:30927757|PMID:7763253|PMID:9382095|PMID:9536098
8829652	Fbp1	fructose-bisphosphatase 1	gene	DOID:5204	fructose-1,6-bisphosphatase deficiency		ISO	RGD:735552	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency	PMID:11286391|PMID:12126934|PMID:17576681|PMID:19259699|PMID:20096900|PMID:23881342|PMID:25601412|PMID:25741868|PMID:26549536|PMID:27101822|PMID:28420223|PMID:28492532|PMID:28776561|PMID:29016355|PMID:29203193|PMID:29774539|PMID:29774540|PMID:29774541|PMID:29774542|PMID:29774543|PMID:29774544|PMID:29774545|PMID:30193751|PMID:30858132|PMID:30927757|PMID:31584309|PMID:31965297|PMID:33083013|PMID:33730438|PMID:37507476|PMID:7763253|PMID:9382095|PMID:9536098
8829652	Fbp1	fructose-bisphosphatase 1	gene	DOID:5204	fructose-1,6-bisphosphatase deficiency		ISO	RGD:735552	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY | ClinVar Annotator: match by term: Fructose 1,6 Bisphosphatase Deficiency | ClinVar Annotator: match by term: Fructose-1,6-bisphosphatase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency	PMID:10234608|PMID:11286391|PMID:16199547|PMID:19259699|PMID:20096900|PMID:20151204|PMID:23881342|PMID:25601412|PMID:25741868|PMID:26549536|PMID:27101822|PMID:28420223|PMID:28492532|PMID:28776561|PMID:29016355|PMID:29203193|PMID:29774539|PMID:29774541|PMID:29774542|PMID:29774543|PMID:29774545|PMID:29992913|PMID:30858132|PMID:31584309|PMID:33083013|PMID:34687058|PMID:35179010|PMID:36561316|PMID:37507476|PMID:9382095
8829652	Fbp1	fructose-bisphosphatase 1	gene	DOID:5419	schizophrenia		ISO	RGD:735552	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8829652	Fbp1	fructose-bisphosphatase 1	gene	DOID:630	genetic disease		ISO	RGD:735552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8829652	Fbp1	fructose-bisphosphatase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22039417
8829652	Fbp1	fructose-bisphosphatase 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:735552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22039417
8829652	Fbp1	fructose-bisphosphatase 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:735552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22039417
8829652	Fbp1	fructose-bisphosphatase 1	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:735552	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:35172013
8829652	Fbp1	fructose-bisphosphatase 1	gene	DOID:9993	hypoglycemia		ISO	RGD:735552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
8829663	Ccr9	C-C motif chemokine receptor 9	gene	DOID:0080600	COVID-19		ISO	RGD:1352272	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8829663	Ccr9	C-C motif chemokine receptor 9	gene	DOID:1205	allergic disease		ISO	RGD:1352272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8829663	Ccr9	C-C motif chemokine receptor 9	gene	DOID:1824	status epilepticus		ISO	RGD:1352272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17181556
8829663	Ccr9	C-C motif chemokine receptor 9	gene	DOID:552	pneumonia		ISO	RGD:1352272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8829673	Meis2	Meis homeobox 2	gene	DOID:0050567	orofacial cleft		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip/palate	
8829673	Meis2	Meis homeobox 2	gene	DOID:0050591	tooth agenesis		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tooth agenesis	PMID:25741868
8829673	Meis2	Meis homeobox 2	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1313085	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:24678003|PMID:25741868|PMID:30291340
8829673	Meis2	Meis homeobox 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8829673	Meis2	Meis homeobox 2	gene	DOID:0111697	cleft palate, cardiac defects, and intellectual disability		ISO	RGD:1313085	D	RGD:7240710	20190315	OMIM			
8829673	Meis2	Meis homeobox 2	gene	DOID:0111697	cleft palate, cardiac defects, and intellectual disability		ISO	RGD:1313085	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CLEFT PALATE, CARDIAC DEFECTS, AND IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | ClinVar Annotator: match by term: Cleft palate, cardiac defects, and mental retardation | ClinVar Annotator: match by term: MEIS2-related condition	PMID:17576681|PMID:25712757|PMID:25741868|PMID:27225850|PMID:28492532|PMID:30055086|PMID:30291340|PMID:30735726|PMID:32345733|PMID:33526774|PMID:9536098
8829673	Meis2	Meis homeobox 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8829673	Meis2	Meis homeobox 2	gene	DOID:1067	open-angle glaucoma	susceptibility	ISO	RGD:1313085	D	RGD:9068941	20221020	RGD		DNA:SNP::rs28480457(human)	PMID:29452408|REF_RGD_ID:155630591
8829673	Meis2	Meis homeobox 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8829673	Meis2	Meis homeobox 2	gene	DOID:1115	sarcoma		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8829673	Meis2	Meis homeobox 2	gene	DOID:1324	lung cancer		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8829673	Meis2	Meis homeobox 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
8829673	Meis2	Meis homeobox 2	gene	DOID:1909	melanoma		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8829673	Meis2	Meis homeobox 2	gene	DOID:3454	brain infarction		ISO	RGD:1305198	D	RGD:9068941	20221027	RGD		protein:altered expression:brain (rat)	PMID:12161747|REF_RGD_ID:155630606
8829673	Meis2	Meis homeobox 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8829673	Meis2	Meis homeobox 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829673	Meis2	Meis homeobox 2	gene	DOID:630	genetic disease		ISO	RGD:1313085	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:30291340|PMID:30735726|PMID:32345733
8829673	Meis2	Meis homeobox 2	gene	DOID:674	cleft palate		ISO	RGD:1313085	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
8829673	Meis2	Meis homeobox 2	gene	DOID:8927	learning disability		ISO	RGD:1313085	D	RGD:9068941	20221020	RGD		DNA:mutations, haplotype insufficiency: :	PMID:24678003|REF_RGD_ID:155598680
8829673	Meis2	Meis homeobox 2	gene	DOID:9000121	Malocclusion		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cross bite	PMID:25741868
8829673	Meis2	Meis homeobox 2	gene	DOID:9004397	Calcification of Aortic Valve		ISO	RGD:1313085	D	RGD:9068941	20221020	RGD		mRNA,protein:decreased expression:aortic valve:	PMID:30594396|REF_RGD_ID:155598679
8829673	Meis2	Meis homeobox 2	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1313085	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Speech delay	PMID:25741868
8829673	Meis2	Meis homeobox 2	gene	DOID:9005813	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES		ISO	RGD:1313085	D	RGD:9068941	20221020	RGD		DNA:mutations:cds:multiples	PMID:30291340|REF_RGD_ID:155598678
8829673	Meis2	Meis homeobox 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829673	Meis2	Meis homeobox 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8829673	Meis2	Meis homeobox 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8829708	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8829708	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:0060058	lymphoma		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8829708	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:0070712	developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies		ISO	RGD:1348496	D	RGD:7240710	20260603	OMIM			
8829708	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:0070712	developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies		ISO	RGD:1348496	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH VARIABLE CARDIAC AND RENAL CONGENITAL ANOMALIES AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies	
8829708	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:10534	stomach cancer		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8829708	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8829708	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:1324	lung cancer		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8829708	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:13580	cholestasis		ISO	RGD:1348496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
8829708	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:14766	renal agenesis		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: renal agenesis	
8829708	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:1909	melanoma		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8829708	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8829708	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:3275	thymoma		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8829708	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:4362	cervical cancer		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8829708	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348496	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8829708	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829708	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8829708	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829708	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1348496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
8829744	Cnih4	cornichon family member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8829744	Cnih4	cornichon family member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829744	Cnih4	cornichon family member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8829744	Cnih4	cornichon family member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829744	Cnih4	cornichon family member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8829744	Cnih4	cornichon family member 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8829762	Plrg1	pleiotropic regulator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8829762	Plrg1	pleiotropic regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8829762	Plrg1	pleiotropic regulator 1	gene	DOID:0060058	lymphoma		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8829762	Plrg1	pleiotropic regulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8829762	Plrg1	pleiotropic regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8829762	Plrg1	pleiotropic regulator 1	gene	DOID:1115	sarcoma		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8829762	Plrg1	pleiotropic regulator 1	gene	DOID:1324	lung cancer		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8829762	Plrg1	pleiotropic regulator 1	gene	DOID:1909	melanoma		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8829762	Plrg1	pleiotropic regulator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733629	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8829762	Plrg1	pleiotropic regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829762	Plrg1	pleiotropic regulator 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8829762	Plrg1	pleiotropic regulator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8829762	Plrg1	pleiotropic regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829762	Plrg1	pleiotropic regulator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8829781	Fgf13	fibroblast growth factor 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8829781	Fgf13	fibroblast growth factor 13	gene	DOID:0070381	developmental and epileptic encephalopathy 90		ISO	RGD:733500	D	RGD:7240710	20210303	OMIM			
8829781	Fgf13	fibroblast growth factor 13	gene	DOID:0070381	developmental and epileptic encephalopathy 90		ISO	RGD:733500	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 90 | ClinVar Annotator: match by term: FGF13-related condition	PMID:25741868
8829781	Fgf13	fibroblast growth factor 13	gene	DOID:1059	intellectual disability		ISO	RGD:1553609	D	RGD:9068941	20220825	MouseDO			
8829781	Fgf13	fibroblast growth factor 13	gene	DOID:1115	sarcoma		ISO	RGD:733500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8829781	Fgf13	fibroblast growth factor 13	gene	DOID:1793	pancreatic cancer		ISO	RGD:733500	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19917848
8829781	Fgf13	fibroblast growth factor 13	gene	DOID:630	genetic disease		ISO	RGD:733500	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8829781	Fgf13	fibroblast growth factor 13	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:733500	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19917848
8829781	Fgf13	fibroblast growth factor 13	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:733500	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8829781	Fgf13	fibroblast growth factor 13	gene	DOID:9005113	X-Linked Intellectual Developmental Disorder 110		ISO	RGD:733500	D	RGD:7240710	20230125	OMIM			
8829781	Fgf13	fibroblast growth factor 13	gene	DOID:9005113	X-Linked Intellectual Developmental Disorder 110		ISO	RGD:733500	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 110	PMID:34184986
8829781	Fgf13	fibroblast growth factor 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829807	Kpna1	karyopherin subunit alpha 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8829807	Kpna1	karyopherin subunit alpha 1	gene	DOID:1324	lung cancer		ISO	RGD:1347998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8829807	Kpna1	karyopherin subunit alpha 1	gene	DOID:1909	melanoma		ISO	RGD:1347998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8829807	Kpna1	karyopherin subunit alpha 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8829807	Kpna1	karyopherin subunit alpha 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347998	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8829807	Kpna1	karyopherin subunit alpha 1	gene	DOID:5419	schizophrenia		ISO	RGD:1347998	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743468
8829807	Kpna1	karyopherin subunit alpha 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829807	Kpna1	karyopherin subunit alpha 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8829807	Kpna1	karyopherin subunit alpha 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829807	Kpna1	karyopherin subunit alpha 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8829829	APC	APC regulator of Wnt signaling pathway	gene	DOID:9004265	Endometrioid Carcinomas		ISO	RGD:736624	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:endometrium (human)	PMID:18570730|REF_RGD_ID:13432144
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10612827|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737795|PMID:10768871|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11247895|PMID:11247896|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12581900|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17568392|PMID:17576681|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24573554|PMID:24599579|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28202063|PMID:28283864|PMID:28349240|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28828701|PMID:28873162|PMID:29029407|PMID:29122597|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29987844|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30374176
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:30426508|PMID:30487145|PMID:30613976|PMID:30680046|PMID:30814645|PMID:30897307|PMID:30980208|PMID:31054147|PMID:31113927|PMID:31159747|PMID:31285513|PMID:31428572|PMID:31444830|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33436027|PMID:33773808|PMID:33788735|PMID:35142982|PMID:7562975|PMID:7833936|PMID:8103406|PMID:8111416|PMID:8125478|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9342373|PMID:9487968|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28349240|PMID:28423518
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31942411|PMID:32547059|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33193653|PMID:33279946|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33753878|PMID:33773808|PMID:33788735|PMID:34250417|PMID:34479915|PMID:35142982|PMID:7524601|PMID:7562975|PMID:7833931|PMID:7833936|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL	PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21270786|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25974703|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL	PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28251689|PMID:28283864
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL	PMID:28349240|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31942411|PMID:32547059|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33193653|PMID:33279946|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33753878|PMID:33773808|PMID:33788735|PMID:34250417|PMID:34347074|PMID:34479915|PMID:35142982|PMID:36988593|PMID:7524601|PMID:7562975|PMID:7833931|PMID:7833936|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL	PMID:28349240|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31570899|PMID:31874108|PMID:31942411|PMID:32292534|PMID:32547059|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33193653|PMID:33279946|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33753878|PMID:33773808|PMID:33788735|PMID:34250417|PMID:34347074|PMID:34479915|PMID:35142982|PMID:35264596|PMID:35430768|PMID:36097219|PMID:36988593|PMID:7524601|PMID:7562975|PMID:7833931|PMID:7833936|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22425061|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28349240|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31269945|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31570899|PMID:31874108|PMID:31942411|PMID:32292534|PMID:32547059|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33193653|PMID:33279946|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33753878|PMID:33773808|PMID:33788735|PMID:34250417|PMID:34347074|PMID:34479915|PMID:34897210|PMID:35142982|PMID:35264596|PMID:35430768|PMID:35979026|PMID:36097219|PMID:36356413|PMID:36988593|PMID:7524601|PMID:7562975|PMID:7833931|PMID:7833936|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22425061|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23757202|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28349240|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31269945|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31570899|PMID:31874108|PMID:31942411|PMID:32292534|PMID:32547059|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33193653|PMID:33279946|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33753878|PMID:33773808|PMID:33788735|PMID:34250417|PMID:34347074|PMID:34479915|PMID:34897210|PMID:35142982|PMID:35264596|PMID:35430768|PMID:35979026|PMID:36097219|PMID:36356413|PMID:36988593|PMID:7524601|PMID:7562975|PMID:7833931|PMID:7833936|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL	PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22425061|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22848674|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL	PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28349240|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31269945|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31570899|PMID:31874108|PMID:31942411|PMID:32292534|PMID:32547059|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33193653|PMID:33279946|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33753878|PMID:33773808|PMID:33788735|PMID:34250417|PMID:34347074|PMID:34479915|PMID:34897210|PMID:35142982|PMID:35264596|PMID:35430768|PMID:35979026|PMID:36097219|PMID:36356413|PMID:36988593|PMID:7524601|PMID:7562975|PMID:7833931|PMID:7833936|PMID:7853377|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL	PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22848674|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23757202|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27574554|PMID:27600092
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL	PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28349240|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29212164|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31269945|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31570899|PMID:31874108|PMID:31942411|PMID:32292534|PMID:32547059|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33193653|PMID:33279946|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33646313|PMID:33753878|PMID:33773808|PMID:33788735|PMID:34250417|PMID:34347074|PMID:34479915|PMID:34897210|PMID:35128723|PMID:35142982|PMID:35264596|PMID:35430768|PMID:35979026|PMID:36097219|PMID:36356413|PMID:36988593|PMID:7524601|PMID:7562975|PMID:7833931|PMID:7833936|PMID:7853377|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14734220|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:15986289|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22809634|PMID:2281069|PMID:22810696|PMID:22848674|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25231023|PMID:25326637|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:27443514|PMID:27449473|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28349240|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29212164|PMID:29245953|PMID:29351919|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29753700|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30239046|PMID:30252101|PMID:30256826|PMID:30257133|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31269945|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31469036|PMID:31504825|PMID:31570899|PMID:31874108|PMID:31942411|PMID:32292534|PMID:32547059|PMID:32658311|PMID:32754865|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33087929|PMID:33193653|PMID:33279946|PMID:33294277|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33646313|PMID:33753878|PMID:33773808|PMID:33788735|PMID:33875564|PMID:34250417|PMID:34347074|PMID:34426522|PMID:34479915|PMID:34897210|PMID:35128723|PMID:35142982|PMID:35189564|PMID:35264596|PMID:35430768|PMID:35979026|PMID:36097219|PMID:36225625|PMID:36356413|PMID:36586069|PMID:36988593|PMID:7524601|PMID:7562975|PMID:7833931|PMID:7833936|PMID:7853377|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL	PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11668620|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14734220|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:15952110|PMID:15986289|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17881494|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19279422|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21255554|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22809634|PMID:2281069|PMID:22810696|PMID:22848674|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25231023|PMID:25326637|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL	PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27498913|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28349240|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28706299|PMID:28749474|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29212164|PMID:29245953|PMID:29338072|PMID:29351919|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29753700|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30006736|PMID:30067863|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30239046|PMID:30252101|PMID:30256826|PMID:30257133|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31269945|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31469036|PMID:31504825|PMID:31570899|PMID:31874108|PMID:31942411|PMID:32268276|PMID:32292534|PMID:32547059|PMID:32658311|PMID:32754865|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33087929|PMID:33193653|PMID:33279946|PMID:33294277|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33646313|PMID:33753878|PMID:33773808|PMID:33788735|PMID:33875564|PMID:34250417|PMID:34326862|PMID:34347074|PMID:34426522|PMID:34479915|PMID:34666312|PMID:34897210|PMID:35128723|PMID:35142982|PMID:35189564|PMID:35264596|PMID:35430768|PMID:35534704|PMID:35979026|PMID:36097219|PMID:36225625|PMID:36243179|PMID:36356413|PMID:36586069|PMID:36988593|PMID:38054408|PMID:7524601|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL	PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10612827|PMID:10646887|PMID:10666372|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11668620|PMID:11677205|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11819789|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14734220|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:15952110|PMID:15986289|PMID:16088911|PMID:16106429|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:1678319|PMID:16875934|PMID:17026565|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17881494|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18369740|PMID:18433509|PMID:18612690|PMID:18629394|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21157497|PMID:21255554|PMID:21315632|PMID:21520333|PMID:21643010|PMID:21779980|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:22809634|PMID:2281069|PMID:22810696|PMID:22848674|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22895193|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24142997|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25183641|PMID:25186627|PMID:25203624|PMID:25231023|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25338684|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25815427|PMID:25832318|PMID:25925381|PMID:25938944
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL	PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27302369|PMID:27311873|PMID:27329244|PMID:27354939|PMID:27425854|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27717299|PMID:27760322|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28349240|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28569743|PMID:28576136|PMID:28608266|PMID:28706299|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:29029407|PMID:29050249|PMID:29069792|PMID:29122597|PMID:29141224|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29251405|PMID:29338072|PMID:29351919|PMID:29360161|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29458332|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29696324|PMID:29710228|PMID:29723602|PMID:29748005|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30006736|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30239046|PMID:30252101|PMID:30256826|PMID:30257133|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30458888|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30666417|PMID:30680046|PMID:30705875|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31127692|PMID:31133068|PMID:31159747|PMID:31186761|PMID:31269945|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31372739|PMID:31403082|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31469036|PMID:31486992|PMID:31504825|PMID:31547467|PMID:31552911|PMID:31570899|PMID:31591141|PMID:31613886|PMID:31702654|PMID:31780696|PMID:31802619|PMID:31854063|PMID:31874108|PMID:31921681|PMID:31942411|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32123317|PMID:32251017|PMID:32255556|PMID:32268276|PMID:32292534|PMID:32390703|PMID:32504335|PMID:32547059|PMID:32547938|PMID:32635641|PMID:32658311|PMID:32720237|PMID:32751567|PMID:32754865|PMID:32829589|PMID:32854451|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:33009979|PMID:33087929|PMID:33193653|PMID:33279946|PMID:33294277|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33359728|PMID:33436027|PMID:33503190|PMID:33525650|PMID:33606809|PMID:33646313|PMID:33670833|PMID:33753878|PMID:33769591|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:34034685|PMID:34106356|PMID:34250417|PMID:34259353|PMID:34271781|PMID:34301788|PMID:34326862|PMID:34347074|PMID:34426522|PMID:34479915|PMID:34545850|PMID:34646395|PMID:34666312
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20240514	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL	PMID:34707284|PMID:34754157|PMID:34771502|PMID:34855061|PMID:34897210|PMID:34921310|PMID:35098669|PMID:35128723|PMID:35142982|PMID:35189564|PMID:35205366|PMID:35260767|PMID:35264596|PMID:35430768|PMID:35534704|PMID:35939113|PMID:35979026|PMID:36097219|PMID:36179682|PMID:36225625|PMID:36243179|PMID:36356413|PMID:36586069|PMID:36900197|PMID:36988593|PMID:38054408|PMID:7306523|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8888441|PMID:8931709|PMID:8940262|PMID:8940264|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9375853|PMID:9382065|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9669663|PMID:9703421|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10612827|PMID:10646887|PMID:10666372|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11668620|PMID:11677205|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11819789|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14734220|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:15952110|PMID:15986289|PMID:16088911|PMID:16106429|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:1678319|PMID:16875934|PMID:17026565|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17881494|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18369740|PMID:18433509|PMID:18612690|PMID:18629394|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21157497|PMID:21255554|PMID:21270786|PMID:21315632|PMID:21520333|PMID:21643010|PMID:21779980|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:22809634|PMID:2281069|PMID:22810696|PMID:22848674|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22895193|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24142997|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25183641|PMID:25186627|PMID:25203624|PMID:25231023|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25338684|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25815427|PMID:25832318|PMID:25925381
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:25938944|PMID:25941542|PMID:25974703|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27302369|PMID:27311873|PMID:27329244|PMID:27354939|PMID:27425854|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27717299|PMID:27760322|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27981572|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28349240|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28569743|PMID:28576136|PMID:28608266|PMID:28706299|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:29029407|PMID:29050249|PMID:29069792|PMID:29122597|PMID:29141224|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29251405|PMID:29338072|PMID:29351919|PMID:29360161|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29458332|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29696324|PMID:29710228|PMID:29723602|PMID:29748005|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30006736|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30239046|PMID:30252101|PMID:30256826|PMID:30257133|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30458888|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30666417|PMID:30680046|PMID:30705875|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31127692|PMID:31133068|PMID:31159747|PMID:31186761|PMID:31269945|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31372739|PMID:31403082|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31469036|PMID:31486992|PMID:31504825|PMID:31547467|PMID:31552911|PMID:31570899|PMID:31591141|PMID:31613886|PMID:31702654|PMID:31780696|PMID:31802619|PMID:31854063|PMID:31874108|PMID:31921681|PMID:31937788|PMID:31942411|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32123317|PMID:32251017|PMID:32255556|PMID:32268276|PMID:32292534|PMID:32390703|PMID:32504335|PMID:32547059|PMID:32547938|PMID:32635641|PMID:32658311|PMID:32720237|PMID:32751567|PMID:32754865|PMID:32829589|PMID:32854451|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:33009979|PMID:33087929|PMID:33134403|PMID:33193653|PMID:33279946|PMID:33294277|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33359728|PMID:33436027|PMID:33503190|PMID:33525650|PMID:33606809|PMID:33646313|PMID:33670833|PMID:33753878|PMID:33769591|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:34034685|PMID:34106356|PMID:34250417|PMID:34259353|PMID:34271781|PMID:34301788|PMID:34326862|PMID:34347074
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:34426522|PMID:34479915|PMID:34545850|PMID:34646395|PMID:34666312|PMID:34707284|PMID:34754157|PMID:34771502|PMID:34855061|PMID:34897210|PMID:34921310|PMID:35098669|PMID:35128723|PMID:35142982|PMID:35189564|PMID:35205366|PMID:35260767|PMID:35264596|PMID:35430768|PMID:35534704|PMID:35939113|PMID:35979026|PMID:36097219|PMID:36179682|PMID:36225625|PMID:36243179|PMID:36356413|PMID:36586069|PMID:36900197|PMID:36988593|PMID:38054408|PMID:7306523|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8888441|PMID:8931709|PMID:8940262|PMID:8940264|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9375853|PMID:9382065|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9669663|PMID:9703421|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10612827|PMID:10646887|PMID:10666372|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11668620|PMID:11677205|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11819789|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14734220|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:15952110|PMID:15986289|PMID:16088911|PMID:16106429|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:1678319|PMID:16875934|PMID:17026565|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17881494|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18369740|PMID:18433509|PMID:18612690|PMID:18629394|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21157497|PMID:21255554|PMID:21315632|PMID:21520333|PMID:21643010|PMID:21779980|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:22809634|PMID:2281069|PMID:22810696|PMID:22848674|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22895193|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24142997|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25183641|PMID:25186627|PMID:25203624|PMID:25231023|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25815427|PMID:25832318|PMID:25925381
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:25938944|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27302369|PMID:27311873|PMID:27329244|PMID:27354939|PMID:27425854|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27717299|PMID:27760322|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28349240|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28569743|PMID:28576136|PMID:28608266|PMID:28706299|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:29029407|PMID:29050249|PMID:29069792|PMID:29122597|PMID:29141224|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29251405|PMID:29338072|PMID:29351919|PMID:29360161|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29458332|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29696324|PMID:29710228|PMID:29723602|PMID:29748005|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30006736|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30239046|PMID:30252101|PMID:30256826|PMID:30257133|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30458888|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30666417|PMID:30680046|PMID:30705875|PMID:30720243|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31127692|PMID:31133068|PMID:31159747|PMID:31186761|PMID:31269945|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31372739|PMID:31403082|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31469036|PMID:31486992|PMID:31504825|PMID:31547467|PMID:31552911|PMID:31570899|PMID:31591141|PMID:31613886|PMID:31702654|PMID:31780696|PMID:31802619|PMID:31854063|PMID:31874108|PMID:31921681|PMID:31937788|PMID:31942411|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32123317|PMID:32251017|PMID:32255556|PMID:32268276|PMID:32292534|PMID:32390703|PMID:32504335|PMID:32547059|PMID:32547938|PMID:32635641|PMID:32658311|PMID:32720237|PMID:32751567|PMID:32754865|PMID:32829589|PMID:32854451|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:32999869|PMID:33009979|PMID:33087929|PMID:33134403|PMID:33193653|PMID:33279946|PMID:33294277|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33359728|PMID:33436027|PMID:33503190|PMID:33525650|PMID:33558524|PMID:33569305|PMID:33606809|PMID:33646313|PMID:33670833|PMID:33753878|PMID:33769591|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:34034685|PMID:34106356|PMID:34250417|PMID:34259353|PMID:34271781|PMID:34301788
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:34326862|PMID:34347074|PMID:34426522|PMID:34479915|PMID:34545850|PMID:34646395|PMID:34666312|PMID:34707284|PMID:34754157|PMID:34771502|PMID:34855061|PMID:34897210|PMID:34921310|PMID:35098669|PMID:35128723|PMID:35142982|PMID:35189564|PMID:35205366|PMID:35260767|PMID:35264596|PMID:35430768|PMID:35467778|PMID:35534704|PMID:35939113|PMID:35979026|PMID:35980532|PMID:36097219|PMID:36179682|PMID:36225625|PMID:36243179|PMID:36356413|PMID:36586069|PMID:36900197|PMID:36988593|PMID:37306523|PMID:38054408|PMID:7306523|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8888441|PMID:8931709|PMID:8940262|PMID:8940264|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9375853|PMID:9382065|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9669663|PMID:9703421|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10612827|PMID:10634400|PMID:10646887|PMID:10666372|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11668620|PMID:11677205|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11819789|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12527714|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12721244|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14734220|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:15952110|PMID:15986289|PMID:16088911|PMID:16106429|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:1678319|PMID:16875934|PMID:17026565|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17881494|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18369740|PMID:1843350|PMID:18433509|PMID:18612690|PMID:18629394|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21157497|PMID:21255554|PMID:21315632|PMID:21520333|PMID:21643010|PMID:21779980|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:22809634|PMID:2281069|PMID:22810696|PMID:22848674|PMID:22851115|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22895193|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23806086|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24088041|PMID:24123366|PMID:24142997|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25183641|PMID:25186627|PMID:25203624|PMID:25231023|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25338684|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25687216|PMID:25710373
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:25722345|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25815427|PMID:25832318|PMID:25925381|PMID:25938944|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27009842|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27302369|PMID:27311873|PMID:27329244|PMID:27354939|PMID:27425854|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27717299|PMID:27760322|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28349240|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28569743|PMID:28576136|PMID:28608266|PMID:28706299|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28791770|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:29029407|PMID:29050249|PMID:29069792|PMID:29122597|PMID:29141224|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29251405|PMID:29338072|PMID:29351919|PMID:29360161|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29458332|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29696324|PMID:29710228|PMID:29723602|PMID:29748005|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30006736|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30239046|PMID:30252101|PMID:30256826|PMID:30257133|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30458888|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30666417|PMID:30680046|PMID:30705875|PMID:30720243|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31127692|PMID:31133068|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31372739|PMID:31403082|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31469036|PMID:31486992|PMID:31504825|PMID:31547467|PMID:31552911|PMID:31570899|PMID:31591141|PMID:31613886|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31802619|PMID:31854063|PMID:31874108|PMID:31921681|PMID:31937788|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32123317|PMID:32251017|PMID:32255556|PMID:32268276|PMID:32292534|PMID:32390703|PMID:32504335|PMID:32547059|PMID:32547938|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32720237|PMID:32751567|PMID:32754865|PMID:32829589|PMID:32854451|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:32999869|PMID:33009979|PMID:33087929|PMID:33134403|PMID:33193653|PMID:33279946|PMID:33294277|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33359728|PMID:33436027|PMID:33503190|PMID:33525650|PMID:33558524|PMID:33569305|PMID:33606809
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:33646313|PMID:33670833|PMID:33753878|PMID:33769591|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:34034685|PMID:34106356|PMID:34250417|PMID:34259353|PMID:34271781|PMID:34301788|PMID:34326862|PMID:34347074|PMID:34388351|PMID:34426522|PMID:34479915|PMID:34545850|PMID:34646395|PMID:34666312|PMID:34707284|PMID:34754157|PMID:34771502|PMID:34855061|PMID:34897210|PMID:34921310|PMID:35098669|PMID:35128723|PMID:35142982|PMID:35189564|PMID:35205366|PMID:35260767|PMID:35264596|PMID:35430768|PMID:35467778|PMID:35534704|PMID:35939113|PMID:35979026|PMID:35980532|PMID:36097219|PMID:36179682|PMID:36225625|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36586069|PMID:36672847|PMID:36900197|PMID:36988593|PMID:37306523|PMID:38054408|PMID:7306523|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7746201|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8888441|PMID:8931709|PMID:8940262|PMID:8940264|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9375853|PMID:9382065|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9669663|PMID:9703421|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL	PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10612827|PMID:10634400|PMID:10646887|PMID:10666372|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11668620|PMID:11677205|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11754114|PMID:11818965|PMID:11819789|PMID:11823972|PMID:11852337|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12527714|PMID:12533824|PMID:12537656|PMID:12621137|PMID:12702169|PMID:12721244|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14734220|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:15952110|PMID:15986289|PMID:16088911|PMID:16106429|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:1678319|PMID:16875934|PMID:17026565|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17881494|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18369740|PMID:1843350|PMID:18433509|PMID:18612690|PMID:18629394|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21157497|PMID:21255554|PMID:21315632|PMID:21520333|PMID:21643010|PMID:21779980|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22790147|PMID:22799487|PMID:22809634|PMID:22851115|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22895193|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23185543|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23709753|PMID:23715166|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24142997|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25148578|PMID:25159915|PMID:25178641|PMID:25183641|PMID:25186627|PMID:25203624|PMID:25231023|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25338684|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25815427|PMID:25925381|PMID:25938944|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL	PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27009842|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27284491|PMID:27302369|PMID:27311873|PMID:27329244|PMID:27354939|PMID:27425854|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27717299|PMID:27760322|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28283864|PMID:28349240|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28569743|PMID:28576136|PMID:28608266|PMID:28706299|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28791770|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:29029407|PMID:29050249|PMID:29069792|PMID:29122597|PMID:29141224|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29251405|PMID:29338072|PMID:29351919|PMID:29360161|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29458332|PMID:29478780|PMID:29487696|PMID:29506128|PMID:29510987|PMID:29562902|PMID:29570743|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29696324|PMID:29710228|PMID:29723602|PMID:29748005|PMID:29753700|PMID:29754767|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30171174|PMID:30239046|PMID:30252101|PMID:30256815|PMID:30256826|PMID:30257133|PMID:30267214|PMID:30279230|PMID:30287922|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30458888|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30666417|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30720243|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31111538|PMID:31113927|PMID:31118792|PMID:31127692|PMID:31131953|PMID:31133068|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31240473|PMID:31269945|PMID:31278746|PMID:31285513|PMID:31360874|PMID:31372739|PMID:31403082|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31469036|PMID:31486992|PMID:31504825|PMID:31520998|PMID:31547467|PMID:31552911|PMID:31570899|PMID:31591141|PMID:31613886|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31802619|PMID:31854063|PMID:31874108|PMID:31921681|PMID:31937788|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32091409|PMID:32123317|PMID:32187665|PMID:32251017|PMID:32255556|PMID:32268276|PMID:32292534|PMID:32390703|PMID:32504335|PMID:32547059|PMID:32547938|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32720237|PMID:32751567|PMID:32754865|PMID:32829589|PMID:32854451|PMID:32913981|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:32999869|PMID:33009979|PMID:33087929|PMID:33094510|PMID:33134403|PMID:33193653|PMID:33279946|PMID:33294277|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33359728|PMID:33436027|PMID:33503190|PMID:33525650
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL	PMID:33558524|PMID:33569305|PMID:33606809|PMID:33646313|PMID:33670833|PMID:33753878|PMID:33769591|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:34034685|PMID:34106356|PMID:34224960|PMID:34250417|PMID:34259353|PMID:34271781|PMID:34301788|PMID:34326862|PMID:34347074|PMID:34388351|PMID:34426522|PMID:34479915|PMID:34545850|PMID:34646395|PMID:34654685|PMID:34666312|PMID:34707284|PMID:34754157|PMID:34771502|PMID:34855061|PMID:34897210|PMID:34921310|PMID:35014770|PMID:35098669|PMID:35128723|PMID:35142982|PMID:35189564|PMID:35205366|PMID:35260767|PMID:35264596|PMID:35296888|PMID:35430768|PMID:35467778|PMID:35534218|PMID:35534704|PMID:35939113|PMID:35966080|PMID:35979026|PMID:35980532|PMID:36084716|PMID:36097219|PMID:36179682|PMID:36225625|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36586069|PMID:36672847|PMID:36807005|PMID:36896836|PMID:36900197|PMID:36901686|PMID:36988593|PMID:37038467|PMID:37149903|PMID:37306523|PMID:37542411|PMID:37577746|PMID:37591896|PMID:37894428|PMID:37943618|PMID:38054408|PMID:38136308|PMID:38504345|PMID:38874686|PMID:39042403|PMID:39284955|PMID:7306523|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7746201|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8888441|PMID:8931709|PMID:8940262|PMID:8940264|PMID:8956059|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9375853|PMID:9382065|PMID:9487968|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9669663|PMID:9703421|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9765274|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL	PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10612827|PMID:10634400|PMID:10646887|PMID:10666372|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11668620|PMID:11677205|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11754114|PMID:11818965|PMID:11819789|PMID:11823972|PMID:11852337|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12527714|PMID:12533824|PMID:12537656|PMID:12621137|PMID:12702169|PMID:12721244|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14734220|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:15952110|PMID:15986289|PMID:16088911|PMID:16106429|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:1678319|PMID:16875934|PMID:17026565|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17881494|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18369740|PMID:1843350|PMID:18433509|PMID:18612690|PMID:18629394|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21157497|PMID:21255554|PMID:21315632|PMID:21520333|PMID:21643010|PMID:21779980|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22790147|PMID:22799487|PMID:22809634|PMID:22851115|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22895193|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23185543|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23709753|PMID:23715166|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24142997|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25148578|PMID:25159915|PMID:25178641|PMID:25183641|PMID:25186627|PMID:25203624|PMID:25231023|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25815427|PMID:25925381|PMID:25938944|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL	PMID:26161710|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27009842|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27284491|PMID:27302369|PMID:27311873|PMID:27329244|PMID:27354939|PMID:27425854|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27717299|PMID:27760322|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28283864|PMID:28349240|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28569743|PMID:28576136|PMID:28608266|PMID:28706299|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28791770|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:29029407|PMID:29050249|PMID:29069792|PMID:29122597|PMID:29141224|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29251405|PMID:29338072|PMID:29351919|PMID:29360161|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29458332|PMID:29478780|PMID:29487696|PMID:29506128|PMID:29510987|PMID:29562902|PMID:29570743|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29696324|PMID:29710228|PMID:29723602|PMID:29748005|PMID:29753700|PMID:29754767|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30171174|PMID:30239046|PMID:30252101|PMID:30256815|PMID:30256826|PMID:30257133|PMID:30267214|PMID:30279230|PMID:30287922|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30458888|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30666417|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30720243|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31111538|PMID:31113927|PMID:31118792|PMID:31127692|PMID:31131953|PMID:31133068|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31240473|PMID:31269945|PMID:31278746|PMID:31285513|PMID:31360874|PMID:31372739|PMID:31403082|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31469036|PMID:31486992|PMID:31504825|PMID:31520998|PMID:31547467|PMID:31552911|PMID:31570899|PMID:31591141|PMID:31613886|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31802619|PMID:31854063|PMID:31874108|PMID:31921681|PMID:31937788|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32091409|PMID:32123317|PMID:32187665|PMID:32251017|PMID:32255556|PMID:32268276|PMID:32292534|PMID:32390703|PMID:32504335|PMID:32547059|PMID:32547938|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32720237|PMID:32751567|PMID:32754865|PMID:32829589|PMID:32854451|PMID:32913981|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:32999869|PMID:33009979|PMID:33087929|PMID:33094510|PMID:33134403|PMID:33193653|PMID:33279946|PMID:33294277|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33359728|PMID:33436027|PMID:33503190
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL	PMID:33525650|PMID:33558524|PMID:33569305|PMID:33606809|PMID:33646313|PMID:33670833|PMID:33753878|PMID:33769591|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:34034685|PMID:34106356|PMID:34224960|PMID:34250417|PMID:34259353|PMID:34271781|PMID:34301788|PMID:34326862|PMID:34347074|PMID:34388351|PMID:34426522|PMID:34479915|PMID:34545850|PMID:34646395|PMID:34654685|PMID:34666312|PMID:34707284|PMID:34754157|PMID:34771502|PMID:34855061|PMID:34897210|PMID:34921310|PMID:35014770|PMID:35098669|PMID:35128723|PMID:35142982|PMID:35189564|PMID:35205366|PMID:35260767|PMID:35264596|PMID:35296888|PMID:35430768|PMID:35467778|PMID:35534218|PMID:35534704|PMID:35939113|PMID:35966080|PMID:35979026|PMID:35980532|PMID:36084716|PMID:36097219|PMID:36179682|PMID:36225625|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36586069|PMID:36672847|PMID:36807005|PMID:36896836|PMID:36900197|PMID:36901686|PMID:36988593|PMID:37038467|PMID:37149903|PMID:37306523|PMID:37542411|PMID:37577746|PMID:37591896|PMID:37894428|PMID:37937776|PMID:37943618|PMID:38054408|PMID:38136308|PMID:38504345|PMID:38874686|PMID:39042403|PMID:39284955|PMID:7306523|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7746201|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8888441|PMID:8931709|PMID:8940262|PMID:8940264|PMID:8956059|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9375853|PMID:9382065|PMID:9487968|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9669663|PMID:9703421|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9765274|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10612827|PMID:10634400|PMID:10646887|PMID:10666372|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11668620|PMID:11677205|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11754114|PMID:11818965|PMID:11819789|PMID:11823972|PMID:11852337|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12527714|PMID:12533824|PMID:12537656|PMID:12621137|PMID:12702169|PMID:12721244|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14734220|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:15952110|PMID:15986289|PMID:16088911|PMID:16106429|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:1678319|PMID:16875934|PMID:17026565|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17881494|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18343606|PMID:18369740|PMID:1843350|PMID:18433509|PMID:18612690|PMID:18629394|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21157497|PMID:21255554|PMID:21315632|PMID:21520333|PMID:21643010|PMID:21779980|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22790147|PMID:22799487|PMID:22809634|PMID:22851115|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22895193|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23185543|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23709753|PMID:23715166|PMID:23806086|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24088041|PMID:24123366|PMID:24142997|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25148578|PMID:25159915|PMID:25178641|PMID:25183641|PMID:25186627|PMID:25203624|PMID:25231023|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25687216|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25815427|PMID:25925381|PMID:25938944|PMID:25941542
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27009842|PMID:27028212|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27284491|PMID:27302369|PMID:27311873|PMID:27329244|PMID:27354939|PMID:27425854|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27717299|PMID:27760322|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28105931|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28283864|PMID:28349240|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28569743|PMID:28576136|PMID:28608266|PMID:28706299|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28791770|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:29029407|PMID:29050249|PMID:29069792|PMID:29122597|PMID:29141224|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29251405|PMID:29338072|PMID:29351919|PMID:29360161|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29458332|PMID:29478780|PMID:29487696|PMID:29506128|PMID:29510987|PMID:29562902|PMID:29570743|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29696324|PMID:29710228|PMID:29723602|PMID:29748005|PMID:29753700|PMID:29754767|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30171174|PMID:30239046|PMID:30252101|PMID:30256815|PMID:30256826|PMID:30257133|PMID:30267214|PMID:30279230|PMID:30287922|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30458888|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30666417|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30720243|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31111538|PMID:31113927|PMID:31118792|PMID:31127692|PMID:31131953|PMID:31133068|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31240473|PMID:31269945|PMID:31278746|PMID:31285513|PMID:31360874|PMID:31372739|PMID:31403082|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31469036|PMID:31486992|PMID:31504825|PMID:31520998|PMID:31547467|PMID:31552911|PMID:31570899|PMID:31591141|PMID:31613886|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31802619|PMID:31854063|PMID:31874108|PMID:31921681|PMID:31937788|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32091409|PMID:32123317|PMID:32187665|PMID:32251017|PMID:32255556|PMID:32268276|PMID:32292534|PMID:32390703|PMID:32504335|PMID:32547059|PMID:32547938|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32720237|PMID:32751567|PMID:32754865|PMID:32829589|PMID:32854451|PMID:32913981|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:32999869|PMID:33009979|PMID:33087929|PMID:33094510|PMID:33134403|PMID:33193653|PMID:33279946
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:33294277|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33359728|PMID:33436027|PMID:33503190|PMID:33525650|PMID:33558524|PMID:33569305|PMID:33606809|PMID:33646313|PMID:33670833|PMID:33753878|PMID:33769591|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:34034685|PMID:34106356|PMID:34205480|PMID:34224960|PMID:34250417|PMID:34259353|PMID:34271781|PMID:34301788|PMID:34326862|PMID:34347074|PMID:34388351|PMID:34426522|PMID:34479915|PMID:34545850|PMID:34646395|PMID:34654685|PMID:34666312|PMID:34707284|PMID:34754157|PMID:34771502|PMID:34855061|PMID:34897210|PMID:34921310|PMID:35014770|PMID:35098669|PMID:35128723|PMID:35142982|PMID:35189564|PMID:35205366|PMID:35260767|PMID:35264596|PMID:35296888|PMID:35430768|PMID:35467778|PMID:35534218|PMID:35534704|PMID:35939113|PMID:35966080|PMID:35979026|PMID:35980532|PMID:36084716|PMID:36097219|PMID:36179682|PMID:36225625|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36586069|PMID:36672847|PMID:36807005|PMID:36896836|PMID:36900197|PMID:36901686|PMID:36988593|PMID:37038467|PMID:37039257|PMID:37076288|PMID:37149903|PMID:37306523|PMID:37542411|PMID:37577746|PMID:37591896|PMID:37800450|PMID:37894428|PMID:37937776|PMID:37943618|PMID:38054408|PMID:38136308|PMID:38185290|PMID:38504345|PMID:38874686|PMID:39042403|PMID:39284955|PMID:7306523|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7746201|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8888441|PMID:8931709|PMID:8940262|PMID:8940264|PMID:8956059|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9375853|PMID:9382065|PMID:9487968|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9669663|PMID:9703421|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9765274|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20250610	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10612827|PMID:10634400|PMID:10646887|PMID:10666372|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11668620|PMID:11677205|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11754114|PMID:11818965|PMID:11819789|PMID:11823972|PMID:11839722|PMID:11852337|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12527714|PMID:12533824|PMID:12537656|PMID:12621137|PMID:12702169|PMID:12721244|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14734220|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:15952110|PMID:15986289|PMID:16088911|PMID:16106429|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:1678319|PMID:16875934|PMID:17026565|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17881494|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18343606|PMID:18369740|PMID:1843350|PMID:18433509|PMID:18612690|PMID:18629394|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21157497|PMID:21255554|PMID:21270786|PMID:21315632|PMID:21520333|PMID:21643010|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22790147|PMID:22799487|PMID:22809634|PMID:22851115|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22895193|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23054214|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23185543|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23709753|PMID:23715166|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24142997|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25148578|PMID:25159915|PMID:25178641|PMID:25183641|PMID:25186627|PMID:25203624|PMID:25231023|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25338684|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20250610	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:25742471|PMID:25801821|PMID:25815427|PMID:25925381|PMID:25938944|PMID:25941542|PMID:25974703|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27009842|PMID:27028212|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27311873|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27425854|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27981572|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28105931|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28283864|PMID:28349240|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28569743|PMID:28576136|PMID:28608266|PMID:28706299|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28791770|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:29029407|PMID:29050249|PMID:29069792|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29251405|PMID:29338072|PMID:29351919|PMID:29360161|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29458332|PMID:29478780|PMID:29487696|PMID:29506128|PMID:29510987|PMID:29562902|PMID:29570743|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29674080|PMID:29683816|PMID:29684080|PMID:29696324|PMID:29710228|PMID:29723602|PMID:29748005|PMID:29753700|PMID:29754767|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29961768|PMID:2996804|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30171174|PMID:30239046|PMID:30252101|PMID:30256815|PMID:30256826|PMID:30257133|PMID:30267214|PMID:30279230|PMID:30287922|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30458888|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30666417|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30720243|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31111538|PMID:31113927|PMID:31118792|PMID:31127692|PMID:31131953|PMID:31133068|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31240473|PMID:31269945|PMID:31278746|PMID:31285513|PMID:31360874|PMID:31372739|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31469036|PMID:31486992|PMID:31504825|PMID:31520998|PMID:31547467|PMID:31552911|PMID:31570899|PMID:31591141|PMID:31613886|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31802619|PMID:31854063|PMID:31874108|PMID:31921681|PMID:31937788|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32091409|PMID:32123317|PMID:32187665|PMID:32251017|PMID:32255556|PMID:32268276|PMID:32292534|PMID:32369273|PMID:32390703|PMID:32504335|PMID:32547059|PMID:32547938|PMID:32590455|PMID:32635641
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20250610	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis	PMID:32658311|PMID:32720237|PMID:32751567|PMID:32754865|PMID:32829589|PMID:32854451|PMID:32860008|PMID:32913981|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:32999869|PMID:33009979|PMID:33087929|PMID:33094510|PMID:33134403|PMID:33193653|PMID:33242120|PMID:33279946|PMID:33294277|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33359728|PMID:33436027|PMID:33503190|PMID:33525650|PMID:33558524|PMID:33569305|PMID:33606809|PMID:33646313|PMID:33670833|PMID:33753878|PMID:33769591|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:34034685|PMID:34106356|PMID:34205480|PMID:34224960|PMID:34250417|PMID:34259353|PMID:34271781|PMID:34301788|PMID:34326862|PMID:34347074|PMID:34388351|PMID:34426522|PMID:34479915|PMID:34545850|PMID:34646395|PMID:34654685|PMID:34666312|PMID:34707284|PMID:34754157|PMID:34771502|PMID:34855061|PMID:34897210|PMID:34921310|PMID:35014770|PMID:35098669|PMID:35128723|PMID:35142982|PMID:35189564|PMID:35205366|PMID:35260767|PMID:35264596|PMID:35296888|PMID:35430768|PMID:35467778|PMID:35534218|PMID:35534704|PMID:35939113|PMID:35966080|PMID:35979026|PMID:35980532|PMID:36084716|PMID:36097219|PMID:36179682|PMID:36225625|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36586069|PMID:36672847|PMID:36807005|PMID:36896836|PMID:36900197|PMID:36901686|PMID:36988593|PMID:37038467|PMID:37039257|PMID:37076288|PMID:37149903|PMID:37306523|PMID:37542411|PMID:37577746|PMID:37591896|PMID:37800450|PMID:37894428|PMID:37937776|PMID:37943618|PMID:38054408|PMID:38136308|PMID:38185290|PMID:38504345|PMID:38874686|PMID:39042403|PMID:39284955|PMID:7306523|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7746201|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8390900|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8888441|PMID:8931709|PMID:8940262|PMID:8940264|PMID:8956059|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9375853|PMID:9382065|PMID:9487968|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9669663|PMID:9703421|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9765274|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial Adenomatous Polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial intestinal polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis | ClinVar Annotator: match by term: classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: familial adenomatous polyposis	PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10213492|PMID:10346819|PMID:10470088|PMID:10612827|PMID:10646887|PMID:10713886|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10982189|PMID:11001924|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11317365|PMID:11559652|PMID:11606402|PMID:11668620|PMID:11741105|PMID:11748858|PMID:11819789|PMID:11839722|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12173026|PMID:12357334|PMID:12408524|PMID:12494469|PMID:12527714|PMID:12702169|PMID:12721244|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14574009|PMID:14729851|PMID:14961559|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15300853|PMID:15311282|PMID:15446460|PMID:15459959|PMID:15689459|PMID:15771908|PMID:15833136|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16454848|PMID:16461775|PMID:1651174|PMID:16569251|PMID:16650078|PMID:1678319|PMID:16944273|PMID:17026565|PMID:17064931|PMID:17169185|PMID:17189293|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17726045|PMID:17881494|PMID:17963004|PMID:18166348|PMID:18199528|PMID:1843350|PMID:18433509|PMID:18629394|PMID:18632633|PMID:18844223|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19444466|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19793053|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20963189|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21157497|PMID:21520333|PMID:21533174|PMID:21643010|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21995669|PMID:21995949|PMID:22027476|PMID:22135120|PMID:22395475|PMID:22434720|PMID:22645652|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22809968|PMID:22864254|PMID:22941256|PMID:22987206|PMID:22995991|PMID:23054214|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23185543|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23561487|PMID:23575299|PMID:23709753|PMID:23715166|PMID:23771323|PMID:23970361|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24470207|PMID:24506336|PMID:24549056|PMID:24599579|PMID:24664542|PMID:24728327|PMID:24735542|PMID:24755471|PMID:25085752|PMID:25148578|PMID:25159915|PMID:25178641|PMID:25183641|PMID:25186627|PMID:25203624|PMID:25256751|PMID:25318351|PMID:25338684|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25676610|PMID:25741868|PMID:25778705|PMID:25925381|PMID:25941542|PMID:25980754|PMID:26000489|PMID:26161710|PMID:26300997|PMID:26332594|PMID:26378065|PMID:26416840|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26681312|PMID:26692440|PMID:26822149|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27000756|PMID:27028212|PMID:27081525|PMID:27087319|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27158207|PMID:27282352|PMID:27302369|PMID:27343414|PMID:27354939|PMID:27443514|PMID:27449473|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27705013|PMID:27760322|PMID:27806309|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27993330|PMID:28092266|PMID:28105931|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28179481|PMID:28185118|PMID:28202063|PMID:28283864|PMID:28301460|PMID:28377483|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28569743|PMID:28706299|PMID:28717660|PMID:28726808|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28944238|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29212164|PMID:29245953|PMID:29251405|PMID:29338072|PMID:29360161|PMID:29371908|PMID:29518763|PMID:29562902|PMID:29620724|PMID:29641532
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial Adenomatous Polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial intestinal polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis | ClinVar Annotator: match by term: classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: familial adenomatous polyposis	PMID:29681454|PMID:29684080|PMID:29696324|PMID:29710228|PMID:29723602|PMID:29752822|PMID:29901124|PMID:29945567|PMID:29961768|PMID:2996804|PMID:29968043|PMID:30006736|PMID:30093976|PMID:30102335|PMID:30122538|PMID:30171174|PMID:30239046|PMID:30252101|PMID:30256826|PMID:30267214|PMID:30279230|PMID:30311378|PMID:30426508|PMID:30680046|PMID:30705875|PMID:30720243|PMID:30809968|PMID:30897307|PMID:30981987|PMID:31054147|PMID:31062380|PMID:31113927|PMID:31133068|PMID:31159747|PMID:31175091|PMID:31209238|PMID:31269945|PMID:31273614|PMID:31278746|PMID:31285513|PMID:31372739|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31504825|PMID:31547467|PMID:31552911|PMID:31591141|PMID:31702654|PMID:31703728|PMID:31780696|PMID:31802619|PMID:31921681|PMID:31942411|PMID:32068069|PMID:32088909|PMID:32123317|PMID:32251017|PMID:32255556|PMID:32277542|PMID:32369273|PMID:32504335|PMID:32543227|PMID:32547938|PMID:32552793|PMID:32590455|PMID:32658311|PMID:32860008|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32984025|PMID:33134403|PMID:33193653|PMID:33279946|PMID:33294277|PMID:33309985|PMID:33352971|PMID:33558524|PMID:33606809|PMID:33646313|PMID:33670833|PMID:33769591|PMID:33788735|PMID:33821390|PMID:33875564|PMID:34072712|PMID:34250417|PMID:34301788|PMID:34326862|PMID:34352208|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34771502|PMID:34897210|PMID:34921310|PMID:35098669|PMID:35101336|PMID:35142982|PMID:35189564|PMID:35205366|PMID:35264596|PMID:35430768|PMID:35467778|PMID:35534218|PMID:35534704|PMID:35586626|PMID:35739269|PMID:35939113|PMID:35966080|PMID:36179682|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36807005|PMID:36900197|PMID:36988593|PMID:37542411|PMID:37577746|PMID:37800450|PMID:38254803|PMID:38332908|PMID:38522067|PMID:38849509|PMID:39042403|PMID:39357517|PMID:39478120|PMID:39932215|PMID:41064934|PMID:7490101|PMID:7524601|PMID:7746201|PMID:7833149|PMID:7833936|PMID:7853377|PMID:7959691|PMID:8111410|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8390900|PMID:8395941|PMID:8544194|PMID:8730280|PMID:8835324|PMID:8931709|PMID:8940264|PMID:8956059|PMID:8990002|PMID:9065402|PMID:9067764|PMID:9101302|PMID:9342373|PMID:9476377|PMID:950360|PMID:9536098|PMID:9585611|PMID:9664575|PMID:9669663|PMID:9824584|PMID:9916927|PMID:9950360
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial Adenomatous Polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial intestinal polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis | ClinVar Annotator: match by term: classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: familial adenomatous polyposis	PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10213492|PMID:10346819|PMID:10470088|PMID:10612827|PMID:10646887|PMID:10713886|PMID:10737725|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10982189|PMID:11001924|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11317365|PMID:11559652|PMID:11606402|PMID:11748858|PMID:11819789|PMID:11839722|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12173026|PMID:12357334|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12527714|PMID:12537656|PMID:12702169|PMID:12721244|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14633595|PMID:14729851|PMID:14961559|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15266213|PMID:15300853|PMID:15311282|PMID:15446460|PMID:15459959|PMID:15689459|PMID:15771908|PMID:15833136|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16454848|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:1678319|PMID:16944273|PMID:17026565|PMID:17064931|PMID:17119068|PMID:17169185|PMID:17189293|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17568392|PMID:17576681|PMID:17726045|PMID:17881494|PMID:17920230|PMID:17963004|PMID:18166348|PMID:18199528|PMID:18343606|PMID:18410690|PMID:1843350|PMID:18433509|PMID:18629394|PMID:18632633|PMID:18844223|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19444466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19793053|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20963189|PMID:20977806|PMID:21078199|PMID:21142386|PMID:21153778|PMID:21157497|PMID:21520333|PMID:21533174|PMID:21643010|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22395475|PMID:22434720|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22809968|PMID:22864254|PMID:22875147|PMID:22941256|PMID:22987206|PMID:22995991|PMID:23054214|PMID:23085758|PMID:23159591|PMID:23185543|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23575299|PMID:23576677|PMID:23709753|PMID:23715166|PMID:23771323|PMID:23846443|PMID:23970361|PMID:24033266|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24470207|PMID:24506336|PMID:24599579|PMID:24664542|PMID:24728327|PMID:24755471|PMID:2478327|PMID:24790607|PMID:25085752|PMID:25142776|PMID:25148578|PMID:25159915|PMID:25178641|PMID:25183641|PMID:25186627|PMID:25203624|PMID:25256751|PMID:25318351|PMID:25338684|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25676610|PMID:25741868|PMID:25925381|PMID:25941542|PMID:25980754|PMID:26000489|PMID:26161710|PMID:26314409|PMID:26332594|PMID:26378065|PMID:26416840|PMID:26446593|PMID:26467025|PMID:26480326|PMID:26510091|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26681312|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27081525|PMID:27087319|PMID:27150160|PMID:27153395|PMID:27158207|PMID:27282352|PMID:27302369|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27705013|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27930734|PMID:27978560|PMID:28092266|PMID:28105931|PMID:28125075|PMID:28135145|PMID:28157215|PMID:28179481|PMID:28185118|PMID:28195569|PMID:28202063|PMID:28283864|PMID:28377483|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28569743|PMID:28706299|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28791770|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28944238|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29192238|PMID:29212164
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial Adenomatous Polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial intestinal polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis | ClinVar Annotator: match by term: classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: familial adenomatous polyposis	PMID:29245953|PMID:29251405|PMID:29338072|PMID:29360161|PMID:29518763|PMID:29562902|PMID:29620724|PMID:29641532|PMID:29681454|PMID:29684080|PMID:29696324|PMID:29710228|PMID:29723602|PMID:29752822|PMID:29887214|PMID:29901124|PMID:2996804|PMID:29968043|PMID:30006736|PMID:30093976|PMID:30102335|PMID:30122538|PMID:30171174|PMID:30239046|PMID:30252101|PMID:30256826|PMID:30267214|PMID:30279230|PMID:30311378|PMID:30426508|PMID:30458888|PMID:30680046|PMID:30720243|PMID:30809968|PMID:30897307|PMID:30981987|PMID:31062380|PMID:31113927|PMID:31118792|PMID:31133068|PMID:31159747|PMID:31175091|PMID:31175917|PMID:31209238|PMID:31269945|PMID:31273614|PMID:31285513|PMID:31372739|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31504825|PMID:31547467|PMID:31552911|PMID:31591141|PMID:31613886|PMID:31702654|PMID:31703728|PMID:31780696|PMID:31802619|PMID:31854063|PMID:31921681|PMID:3193653|PMID:31942411|PMID:32068069|PMID:32088909|PMID:32251017|PMID:32255556|PMID:32277542|PMID:32369273|PMID:32543227|PMID:32547938|PMID:32552793|PMID:32658311|PMID:32860008|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32984025|PMID:33020649|PMID:33094510|PMID:33134403|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33352971|PMID:33558524|PMID:33606809|PMID:33646313|PMID:33670833|PMID:33769591|PMID:33788735|PMID:33821390|PMID:33875564|PMID:34072712|PMID:34224960|PMID:34250417|PMID:34301788|PMID:34326862|PMID:34352208|PMID:34371384|PMID:34426522|PMID:34666312|PMID:34707284|PMID:34771502|PMID:34897210|PMID:34921310|PMID:35014770|PMID:35098669|PMID:35101336|PMID:35142982|PMID:35189564|PMID:35205366|PMID:35264596|PMID:35296888|PMID:35430768|PMID:35467778|PMID:35534218|PMID:35534704|PMID:35586626|PMID:35739269|PMID:35939113|PMID:35966080|PMID:35979026|PMID:36084716|PMID:36179682|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36672847|PMID:36807005|PMID:36896836|PMID:36900197|PMID:36988593|PMID:37542411|PMID:37800450|PMID:38254803|PMID:38332908|PMID:38522067|PMID:38849509|PMID:39042403|PMID:39357517|PMID:39478120|PMID:39932215|PMID:41064934|PMID:7490101|PMID:7746201|PMID:7833936|PMID:7853377|PMID:7959691|PMID:8111410|PMID:8111416|PMID:8125478|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8390900|PMID:8395941|PMID:8544194|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940264|PMID:8956059|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9476377|PMID:9487968|PMID:950360|PMID:9536098|PMID:9585611|PMID:9669663|PMID:9724771|PMID:9824584|PMID:9916927|PMID:9950360
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18716850
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050860	colorectal adenoma		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal adenoma	PMID:10811618|PMID:11257105|PMID:11904335|PMID:16454848|PMID:18166348|PMID:18199528|PMID:18844223|PMID:20233475|PMID:21859464|PMID:22722839|PMID:22995991|PMID:23085758|PMID:23292937|PMID:23970361|PMID:24033266|PMID:24055113|PMID:24728327|PMID:25178641|PMID:25203624|PMID:25479140|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26000489|PMID:26332594|PMID:26416840|PMID:26467025|PMID:26580448|PMID:27153395|PMID:27535533|PMID:28492532|PMID:28503720|PMID:28944238|PMID:29684080|PMID:30122538|PMID:30256826|PMID:30311378|PMID:31422818|PMID:31703728|PMID:32277542|PMID:34250417|PMID:34301788|PMID:35739269|PMID:36315513|PMID:37542411
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050902	medulloblastoma		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7661930
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050902	medulloblastoma		ISO	RGD:736624	D	RGD:9068941	20200609	RGD		associated with Adenomatous Polyposis Coli;DNA:mutations: :	PMID:17238184|REF_RGD_ID:6484523
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736624	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0080366	desmoid tumor		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Desmoid tumor	PMID:10597266|PMID:10782927|PMID:11241320|PMID:15095846|PMID:15793634|PMID:18722078|PMID:20963189|PMID:21904137|PMID:25741868|PMID:26171757|PMID:27993330|PMID:815035|PMID:9250146|PMID:9744495
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0080409	familial adenomatous polyposis 1		ISO	RGD:736624	D	RGD:7240710	20190227	OMIM			
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0080409	familial adenomatous polyposis 1		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FAMILIAL ADENOMATOUS POLYPOSIS 1 | ClinVar Annotator: match by term: Familial adenomatous polyposis 1	PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10213492|PMID:10346819|PMID:10454823|PMID:10470088|PMID:10612827|PMID:10646887|PMID:10669993|PMID:10713886|PMID:10737725|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10923044|PMID:10982189|PMID:11001924|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11317365|PMID:11559652|PMID:11748858|PMID:11819789|PMID:11839722|PMID:11896079|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12173026|PMID:12357334|PMID:12486240|PMID:12494469|PMID:12527714|PMID:12537656|PMID:12702169|PMID:12721244|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:14522379|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14633595|PMID:14672538|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15095859|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15266213|PMID:15300853|PMID:15311282|PMID:15446460|PMID:15459959|PMID:15689459|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15951963|PMID:15952110|PMID:16088911|PMID:16134147|PMID:16199547|PMID:16317745|PMID:16454848|PMID:16461775|PMID:16478792|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16710723|PMID:16736293|PMID:1678319|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17169185|PMID:17189293|PMID:17293347|PMID:17411426|PMID:17426470|PMID:17486639|PMID:17489848|PMID:17568392|PMID:17576681|PMID:17726045|PMID:17881494|PMID:17920230|PMID:17963004|PMID:18166348|PMID:18199528|PMID:18224684|PMID:18343606|PMID:18406876|PMID:18410690|PMID:1843350|PMID:18433509|PMID:18487285|PMID:18587328|PMID:18629394|PMID:18844223|PMID:18982352|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19279422|PMID:19331226|PMID:19444466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19763152|PMID:19768578|PMID:19793053|PMID:2022303|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20307669|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:20685668|PMID:2068568|PMID:20924072|PMID:20963189|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21157497|PMID:21315632|PMID:21476993|PMID:21520333|PMID:21533174|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21995949|PMID:22135120|PMID:22395475|PMID:22406018|PMID:22431159|PMID:22434720|PMID:22703879|PMID:22722839|PMID:22809968|PMID:22864254|PMID:22875147|PMID:22941256|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23244118|PMID:23292937|PMID:23460355|PMID:23561487|PMID:23575299|PMID:23576677|PMID:23585368|PMID:23709753|PMID:23715166|PMID:23725351|PMID:23771323|PMID:23846443|PMID:23970361|PMID:24033266|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24506336|PMID:24599579|PMID:24664542|PMID:24728327|PMID:24763289|PMID:24841357|PMID:24946964|PMID:25085752|PMID:25142776|PMID:25148578|PMID:25159889|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25243319|PMID:25256751|PMID:25318351|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25617745|PMID:25637381|PMID:25640679|PMID:25676610|PMID:25741868|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:26000489|PMID:26161710|PMID:26163615|PMID:26309368|PMID:26314409|PMID:26332594|PMID:26378065|PMID:26416840|PMID:26446593|PMID:26467025|PMID:26480326|PMID:26510091|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26619011|PMID:26625971|PMID:26643872|PMID:26681312|PMID:26684191|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26934580|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27081525|PMID:27150160|PMID:27153395|PMID:27158207|PMID:27217144|PMID:27221540|PMID:27302369|PMID:27347161|PMID:27354939|PMID:27391059|PMID:27449473|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27683109|PMID:27684187|PMID:27705013|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27930734|PMID:27978560|PMID:28002797|PMID:28092266|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28157215|PMID:28179481|PMID:28185118|PMID:28195569|PMID:28202063
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0080409	familial adenomatous polyposis 1		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FAMILIAL ADENOMATOUS POLYPOSIS 1 | ClinVar Annotator: match by term: Familial adenomatous polyposis 1	PMID:28283864|PMID:28377483|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28607096|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28944238|PMID:29050249|PMID:29122597|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29247016|PMID:29251405|PMID:29318445|PMID:29338072|PMID:29360161|PMID:29406563|PMID:29478780|PMID:29518763|PMID:29620724|PMID:29641532|PMID:29681454|PMID:29684080|PMID:29723602|PMID:29752822|PMID:29887214|PMID:29901124|PMID:29954149|PMID:30006736|PMID:30093976|PMID:30102335|PMID:30122538|PMID:30171174|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30272267|PMID:30274973|PMID:30279230|PMID:30311378|PMID:30374176|PMID:30458888|PMID:30680046|PMID:30720243|PMID:30809968|PMID:30852976|PMID:30897307|PMID:30981987|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31118792|PMID:31127692|PMID:31131953|PMID:31133068|PMID:31159747|PMID:31175917|PMID:31209238|PMID:31269945|PMID:31273614|PMID:31285513|PMID:31372739|PMID:31403082|PMID:31422818|PMID:31547467|PMID:31552911|PMID:31591141|PMID:31613886|PMID:31702654|PMID:31703728|PMID:31780696|PMID:31802619|PMID:31854063|PMID:31921681|PMID:3193653|PMID:31942411|PMID:32079666|PMID:32088909|PMID:32255556|PMID:32277542|PMID:32281046|PMID:32369273|PMID:32504335|PMID:32543103|PMID:32543227|PMID:32547938|PMID:32552793|PMID:32658311|PMID:32720330|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32984025|PMID:33020649|PMID:33094510|PMID:33134403|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33352971|PMID:33558524|PMID:33606809|PMID:33646313|PMID:33670833|PMID:33740971|PMID:33769591|PMID:33788735|PMID:33821390|PMID:33875564|PMID:34072712|PMID:34224960|PMID:34250417|PMID:34301788|PMID:34326862|PMID:34352208|PMID:34371384|PMID:34426522|PMID:34573902|PMID:34666312|PMID:34707284|PMID:34897210|PMID:34921310|PMID:35014770|PMID:35098669|PMID:35101336|PMID:35128723|PMID:35142982|PMID:35189564|PMID:35238777|PMID:35264596|PMID:35296888|PMID:35430768|PMID:35467778|PMID:35534218|PMID:35534704|PMID:35586626|PMID:35739269|PMID:35966080|PMID:35979026|PMID:35980532|PMID:36084716|PMID:36179682|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36672847|PMID:36807005|PMID:36896836|PMID:36900197|PMID:36988593|PMID:37277882|PMID:37542411|PMID:37800450|PMID:37943618|PMID:38254803|PMID:38311546|PMID:38332908|PMID:38564685|PMID:38849509|PMID:38967411|PMID:39042403|PMID:39357517|PMID:39478120|PMID:39932215|PMID:40062631|PMID:41064934|PMID:7490101|PMID:7661930|PMID:7746201|PMID:7833936|PMID:7853377|PMID:7951218|PMID:7959691|PMID:8111410|PMID:8125478|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8730280|PMID:8733048|PMID:8834176|PMID:8844222|PMID:8940264|PMID:8956059|PMID:8968744|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9298819|PMID:9375853|PMID:9487968|PMID:950360|PMID:9536098|PMID:9585611|PMID:9669663|PMID:9724771|PMID:9824584|PMID:9916927|PMID:9950360
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27-altered	PMID:16650078|PMID:21859464|PMID:24033266|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26508446|PMID:28492532|PMID:28828701|PMID:30426508|PMID:31159747|PMID:31937788
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:25741868|PMID:26845104|PMID:27081525|PMID:28492532|PMID:8381579|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0111349	hereditary desmoid disease		ISO	RGD:736624	D	RGD:7240710	20180130	OMIM			
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0111349	hereditary desmoid disease		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DESMOID DISEASE, HEREDITARY | ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation | ClinVar Annotator: match by term: FIBROMATOSIS, FAMILIAL INFILTRATIVE | ClinVar Annotator: match by term: Fibromatosis, familial infiltrative	PMID:10083733|PMID:10482959|PMID:10713886|PMID:11001924|PMID:11257105|PMID:11317365|PMID:11693343|PMID:11748858|PMID:11867715|PMID:12034871|PMID:12357334|PMID:12494469|PMID:1316610|PMID:1324223|PMID:14961559|PMID:15108286|PMID:15311282|PMID:15689459|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16461775|PMID:17064931|PMID:17293347|PMID:17411426|PMID:17568392|PMID:17963004|PMID:18199528|PMID:18410690|PMID:18433509|PMID:19036155|PMID:19531215|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20685668|PMID:20924072|PMID:21153778|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:23085758|PMID:23159591|PMID:23561487|PMID:24033266|PMID:24728327|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25203624|PMID:25318351|PMID:25479140|PMID:25559809|PMID:25590978|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25980754|PMID:26332594|PMID:26416840|PMID:26467025|PMID:26510091|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27081525|PMID:27150160|PMID:27153395|PMID:27302369|PMID:27498913|PMID:27600092|PMID:27621404|PMID:27852271|PMID:28125075|PMID:28179481|PMID:28202063|PMID:28283864|PMID:28492532|PMID:28502729|PMID:28526081|PMID:28873162|PMID:28944238|PMID:29192238|PMID:29641532|PMID:29684080|PMID:29887214|PMID:30267214|PMID:30458888|PMID:30897307|PMID:31159747|PMID:31175917|PMID:31269945|PMID:31422818|PMID:31613886|PMID:31854063|PMID:31942411|PMID:32547938|PMID:32980694|PMID:33020649|PMID:33294277|PMID:33309985|PMID:34250417|PMID:34326862|PMID:34352208|PMID:34426522|PMID:34666312|PMID:34707284|PMID:34897210|PMID:35101336|PMID:35189564|PMID:35264596|PMID:35430768|PMID:35586626|PMID:36243179|PMID:36896836|PMID:36988593|PMID:8381579|PMID:8395941|PMID:9101302|PMID:9585611|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:0112182	mismatch repair cancer syndrome		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7661930
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:10283	prostate cancer		ISO	RGD:10166	D	RGD:9068941	20220825	MouseDO		OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959	
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:730903	D	RGD:9068941	20220317	RGD			PMID:16322291|REF_RGD_ID:151665170
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:10534	stomach cancer		ISO	RGD:736624	D	RGD:7240710	20220209	OMIM			
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:10534	stomach cancer		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:10083733|PMID:10094547|PMID:10713886|PMID:11001924|PMID:11257105|PMID:11317365|PMID:11748858|PMID:12034871|PMID:12357334|PMID:12494469|PMID:1316610|PMID:1324223|PMID:14961559|PMID:15108286|PMID:15311282|PMID:15951963|PMID:16088911|PMID:16461775|PMID:17064931|PMID:17293347|PMID:17411426|PMID:17963004|PMID:18199528|PMID:18410690|PMID:18433509|PMID:19531215|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20685668|PMID:20924072|PMID:21153778|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:23159591|PMID:24033266|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25203624|PMID:25318351|PMID:25479140|PMID:25559809|PMID:25590978|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25980754|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27081525|PMID:27150160|PMID:27302369|PMID:27498913|PMID:27600092|PMID:27621404|PMID:27852271|PMID:28125075|PMID:28179481|PMID:28202063|PMID:28283864|PMID:28492532|PMID:28502729|PMID:28526081|PMID:28873162|PMID:28944238|PMID:29192238|PMID:29641532|PMID:29684080|PMID:29887214|PMID:30256826|PMID:30267214|PMID:30458888|PMID:30897307|PMID:31159747|PMID:31175917|PMID:31269945|PMID:31422818|PMID:31613886|PMID:31854063|PMID:31942411|PMID:32547938|PMID:32980694|PMID:33020649|PMID:33294277|PMID:33309985|PMID:34250417|PMID:34326862|PMID:34352208|PMID:34426522|PMID:34666312|PMID:34707284|PMID:34897210|PMID:35101336|PMID:35189564|PMID:35264596|PMID:35430768|PMID:35586626|PMID:36243179|PMID:36896836|PMID:36988593|PMID:8381579|PMID:8395941|PMID:9101302|PMID:9585611|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:1059	intellectual disability		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8071957
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736624	D	RGD:9068941	20200609	RGD		protein:increased expression:astrocyte	PMID:11547943|REF_RGD_ID:6484525
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:10816	duodenum adenocarcinoma		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Duodenal adenocarcinoma	PMID:25741868|PMID:28492532
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:1115	sarcoma		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:11162	respiratory failure		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:17963004|PMID:20685668|PMID:21142386|PMID:25741868|PMID:27930734|PMID:28492532
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:11383	cryptorchidism		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:17963004|PMID:20685668|PMID:21142386|PMID:25741868|PMID:27930734|PMID:28492532
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17546600
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:11830	myopia		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:12176	goiter		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:27081525|PMID:28492532|PMID:8381579|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:12192	sigmoid colon cancer		ISO	RGD:736624	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Malignant tumor of sigmoid colon	PMID:25741868|PMID:28492532
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:12849	autistic disorder		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17221838|PMID:8071957
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:1380	endometrial cancer		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: endometrial cancer	PMID:26845104|PMID:28492532
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:1380	endometrial cancer	severity	ISO	RGD:10166	D	RGD:9068941	20200609	RGD		with Pten knockout	PMID:23288720|REF_RGD_ID:13524585
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:1380	endometrial cancer	severity	ISO	RGD:736624	D	RGD:9068941	20200609	RGD		DNA:mutations, haplotype:cds:multiple (human)	PMID:29876005|REF_RGD_ID:13673916
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:1380	endometrial cancer	treatment	ISO	RGD:736624	D	RGD:9068941	20200609	RGD		human cells in a mouse model	PMID:22907428|REF_RGD_ID:13524624
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:13938	amenorrhea		ISO	RGD:736624	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:10077047|PMID:10213492|PMID:10346819|PMID:10646887|PMID:11707392|PMID:12007223|PMID:12010888|PMID:12173026|PMID:12357334|PMID:12486240|PMID:12721244|PMID:1316610|PMID:1324223|PMID:1338764|PMID:15024739|PMID:15108286|PMID:15311282|PMID:15951963|PMID:16134147|PMID:16753179|PMID:17189293|PMID:17293347|PMID:17486639|PMID:17963004|PMID:18199528|PMID:18433509|PMID:19793053|PMID:20144988|PMID:20223039|PMID:20649969|PMID:20685668|PMID:20924072|PMID:21779980|PMID:22135120|PMID:22864254|PMID:22987206|PMID:23159591|PMID:25590978|PMID:25741868|PMID:26467025|PMID:26613750|PMID:26845104|PMID:27081525|PMID:28179481|PMID:28492532|PMID:30006736|PMID:30897307|PMID:31118792|PMID:31942411|PMID:33094510|PMID:34352208|PMID:35014770|PMID:35101336|PMID:35142982|PMID:35296888|PMID:35979026|PMID:36084716|PMID:36828923|PMID:36988593|PMID:37542411|PMID:37800450|PMID:8187091|PMID:8381579|PMID:8381580|PMID:8544194|PMID:9487968|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:1520	colon carcinoma		ISO	RGD:736624	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10830991|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11823972|PMID:11852337|PMID:11960572|PMID:12007223|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12486240|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14729851|PMID:14961559|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15712637|PMID:15771908|PMID:15857185|PMID:15929773|PMID:16088911|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16461775|PMID:1651563|PMID:16569251|PMID:16680592|PMID:16875934|PMID:17064931|PMID:17119068|PMID:17293347|PMID:17410430|PMID:17411426|PMID:17489848|PMID:17576681|PMID:17604324|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18166348|PMID:18199528|PMID:18343606|PMID:18393237|PMID:18433509|PMID:18770064|PMID:18794146|PMID:18948947|PMID:19029688|PMID:19196998|PMID:19336753|PMID:19347965|PMID:19444466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21520333|PMID:21653199|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21970370|PMID:21995949|PMID:22135120|PMID:22150579|PMID:22431159|PMID:22585170|PMID:22703879|PMID:2281069|PMID:22810696|PMID:22864938|PMID:22875147|PMID:22941256|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23204322|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23715166|PMID:23846443|PMID:23896379|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24518971|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24750145|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25257991|PMID:25318351|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25722345|PMID:25741868|PMID:25778705|PMID:25832318|PMID:25925381|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26511139|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26667234|PMID:26681312|PMID:26819281|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27156442|PMID:27443514|PMID:27600092|PMID:27621404|PMID:27705013|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28185118|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28301460|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28528518|PMID:28533537|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28944238|PMID:29122597|PMID:29367705|PMID:29371908|PMID:29478780|PMID:29506128|PMID:29684080|PMID:29901124|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31062380|PMID:31069152|PMID:31159747|PMID:31175917|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:32543227|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33332384
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:1520	colon carcinoma		ISO	RGD:736624	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:33352971|PMID:33503190|PMID:33875564|PMID:34479915|PMID:35142982|PMID:36988593|PMID:7524601|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7959691|PMID:8111410|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8941012|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9375853|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:1520	colon carcinoma		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma	PMID:10077047|PMID:10083733|PMID:10346819|PMID:10646887|PMID:10737725|PMID:10768871|PMID:10830991|PMID:11001924|PMID:11247896|PMID:11257105|PMID:11317365|PMID:11748858|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12173026|PMID:12357334|PMID:12486240|PMID:12537656|PMID:12702169|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14574009|PMID:14578138|PMID:14729851|PMID:14961559|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15266213|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16199547|PMID:16461775|PMID:17026565|PMID:17064931|PMID:17119068|PMID:17293347|PMID:17411426|PMID:17489848|PMID:17576681|PMID:17726045|PMID:17881494|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18410690|PMID:18433509|PMID:19196998|PMID:19444466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:21153778|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22875147|PMID:22941256|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23575299|PMID:23576677|PMID:23715166|PMID:23846443|PMID:24033266|PMID:24310308|PMID:24416237|PMID:24599579|PMID:24728327|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25590978|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25980754|PMID:26314409|PMID:26332594|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27081525|PMID:27150160|PMID:27153395|PMID:27302369|PMID:27600092|PMID:27621404|PMID:28125075|PMID:28135145|PMID:28179481|PMID:28185118|PMID:28202063|PMID:28283864|PMID:28492532|PMID:28533537|PMID:28805986|PMID:28828701|PMID:28840378|PMID:29641532|PMID:29684080|PMID:29887214|PMID:29901124|PMID:30267214|PMID:30897307|PMID:31062380|PMID:31118792|PMID:31175917|PMID:31285513|PMID:31422818|PMID:31942411|PMID:32067438|PMID:32543227|PMID:33094510|PMID:33352971|PMID:33875564|PMID:34326862|PMID:34352208|PMID:34426522|PMID:34666312|PMID:35014770|PMID:35101336|PMID:35142982|PMID:35264596|PMID:35296888|PMID:35467778|PMID:35534704|PMID:35979026|PMID:36084716|PMID:36672847|PMID:36988593|PMID:37542411|PMID:39357517|PMID:7661930|PMID:7833936|PMID:7959691|PMID:8187091|PMID:8381579|PMID:8381580|PMID:8395941|PMID:8834176|PMID:8990002|PMID:9101302|PMID:9487968|PMID:9536098|PMID:9585611|PMID:9724771|PMID:9824584|PMID:9950360
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:1596	depressive disorder		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Depression	PMID:10713886|PMID:11001924|PMID:11317365|PMID:11748858|PMID:16461775|PMID:17411426|PMID:17963004|PMID:19531215|PMID:20223039|PMID:20685668|PMID:23159591|PMID:25559809|PMID:25590978|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33294277|PMID:9585611
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:1612	breast cancer		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cancer breast	PMID:25741868|PMID:26467025|PMID:28492532
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:736624	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:1793	pancreatic cancer		ISO	RGD:736624	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: pancreatic cancer	PMID:11852337|PMID:1316610|PMID:14633595|PMID:15311282|PMID:17293347|PMID:17411426|PMID:19029688|PMID:20685668|PMID:20924072|PMID:21110124|PMID:22135120|PMID:25741868|PMID:26511139|PMID:27081525|PMID:28492532|PMID:30696621|PMID:34352208|PMID:35101336|PMID:36896836|PMID:8381579|PMID:9101302|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:1924	hypogonadism		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:27081525|PMID:28492532|PMID:8381579|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:1984	rectal benign neoplasm		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11766074|PMID:8071957
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:1996	rectum adenocarcinoma		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rectal Adenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:2030	anxiety disorder		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:10713886|PMID:11001924|PMID:11317365|PMID:11748858|PMID:16461775|PMID:17411426|PMID:17963004|PMID:19531215|PMID:20223039|PMID:20685668|PMID:23159591|PMID:25559809|PMID:25590978|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33294277|PMID:9585611
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:218	ascending colon cancer		ISO	RGD:736624	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Malignant tumor of ascending colon	PMID:25741868|PMID:28492532|PMID:30093976
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:219	colon cancer		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer | ClinVar Annotator: match by term: Malignant tumor of colon	PMID:10713886|PMID:11001924|PMID:11317365|PMID:11748858|PMID:1316610|PMID:15311282|PMID:16461775|PMID:17293347|PMID:17411426|PMID:17963004|PMID:18844223|PMID:19531215|PMID:20223039|PMID:20685668|PMID:21859464|PMID:22135120|PMID:23159591|PMID:24033266|PMID:25559809|PMID:25590978|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27081525|PMID:28492532|PMID:28717660|PMID:33294277|PMID:8381579|PMID:9585611|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of the colon | ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:11247896|PMID:12007223|PMID:12357334|PMID:1324223|PMID:15108286|PMID:15459959|PMID:15951963|PMID:16088911|PMID:17576681|PMID:17963004|PMID:19793053|PMID:20223039|PMID:20685668|PMID:20924072|PMID:25741868|PMID:26613750|PMID:26845104|PMID:28179481|PMID:28492532|PMID:30897307|PMID:31942411|PMID:34352208|PMID:35101336|PMID:36988593|PMID:9536098
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:2355	anemia		ISO	RGD:2123	D	RGD:9068941	20201211	RGD			PMID:17360473|REF_RGD_ID:1601201
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:2361	macrocytic anemia		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27725143
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:2394	ovarian cancer		ISO	RGD:736624	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:18199528|PMID:19307944|PMID:21859464|PMID:25203624|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26000489|PMID:26332594|PMID:26467025|PMID:26530882|PMID:27121310|PMID:28195569|PMID:28492532|PMID:28706299|PMID:28744403|PMID:28944238|PMID:29069792|PMID:29510987|PMID:29684080|PMID:29752822|PMID:30256826|PMID:31062380|PMID:31111538|PMID:3193653|PMID:32187665|PMID:33193653|PMID:33569305|PMID:34250417|PMID:36243179|PMID:37038467
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:2394	ovarian cancer		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:18199528|PMID:21859464|PMID:25203624|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26000489|PMID:26332594|PMID:26467025|PMID:28195569|PMID:28492532|PMID:28744403|PMID:28944238|PMID:29684080|PMID:29752822|PMID:30256826|PMID:3193653|PMID:33193653|PMID:34250417|PMID:36243179
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:2529	splenic disease		ISO	RGD:736624	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:35362542
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:736624	D	RGD:9068941	20200609	RGD		DNA:methylation: :	PMID:21599969|REF_RGD_ID:7242057
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:2841	asthma		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:2871	endometrial carcinoma		ISO	RGD:10166	D	RGD:9068941	20260521	RGD			PMID:21363919|REF_RGD_ID:13525011
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:2871	endometrial carcinoma	onset	ISO	RGD:736624	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter: (human)	PMID:19900189|REF_RGD_ID:13524625
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:299	adenocarcinoma		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15639718|PMID:9111214
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:299	adenocarcinoma		ISO	RGD:736624	D	RGD:9068941	20200609	RGD		DNA:frameshift mutations, nonsense mutations:exon:multiple (human)	PMID:11677205|REF_RGD_ID:2317202
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:3025	acinar cell carcinoma		ISO	RGD:736624	D	RGD:9068941	20200609	RGD		DNA:mutations (human)	PMID:11891193|REF_RGD_ID:2317200
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:3068	glioblastoma		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7661930
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:3087	gingivitis		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:27081525|PMID:28492532|PMID:8381579|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:3121	gallbladder cancer	disease_progression	ISO	RGD:736624	D	RGD:9068941	20220210	RGD		DNA:SNP::rs11954856(human)	PMID:26715268|REF_RGD_ID:151356500
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:3275	thymoma		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:3347	osteosarcoma		ISO	RGD:736624	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Osteosarcoma	PMID:14574009|PMID:23159591|PMID:25741868|PMID:26467025|PMID:28492532|PMID:39357517
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:3498	pancreatic ductal adenocarcinoma		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic Ductal Adenocarcinoma	
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:3883	Lynch syndrome		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7661930
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18337602
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:736624	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:409	liver disease		ISO	RGD:736624	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:35362542
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:4362	cervical cancer		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:16199547|PMID:17963004|PMID:19029688|PMID:19196998|PMID:20685668|PMID:25525159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30720243
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:736624	D	RGD:9068941	20200609	RGD		DNA,protein:LOH,decreased expression: :	PMID:10426194|REF_RGD_ID:7242060
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:4450	renal cell carcinoma	onset	ISO	RGD:10166	D	RGD:9068941	20200609	RGD			PMID:16116480|REF_RGD_ID:7242056
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:4450	renal cell carcinoma	severity	ISO	RGD:736624	D	RGD:9068941	20200609	RGD		DNA:LOH: :	PMID:15203750|REF_RGD_ID:7242059
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:4927	Klatskin's tumor		ISO	RGD:736624	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hilar Cholangiocarcinoma	PMID:25741868|PMID:28492532
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:4928	intrahepatic cholangiocarcinoma		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intrahepatic Cholangiocarcinoma	PMID:25741868|PMID:28492532
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:5041	esophageal cancer		ISO	RGD:736624	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:5485	synovial sarcoma		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Synovial sarcoma	PMID:27993330
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:557	kidney disease		ISO	RGD:736624	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:35362542
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10737725|PMID:11001924|PMID:12173026|PMID:12537656|PMID:14578138|PMID:15266213|PMID:17119068|PMID:17920230|PMID:18199528|PMID:18343606|PMID:19474113|PMID:19701947|PMID:20301519|PMID:22703879|PMID:22875147|PMID:23159591|PMID:23576677|PMID:23846443|PMID:24033266|PMID:24310308|PMID:24416237|PMID:24599579|PMID:24728327|PMID:25741868|PMID:26314409|PMID:26467025|PMID:27153395|PMID:28492532|PMID:33352971|PMID:8834176|PMID:9724771
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:657	adenoma		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10383901|PMID:12034317|PMID:19092804|PMID:30188895|PMID:9111214
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:657	adenoma		ISO	RGD:736624	D	RGD:9068941	20200609	RGD		DNA:frameshift mutations, nonsense mutations:exon:multiple (human)	PMID:11677205|REF_RGD_ID:2317202
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:6741	bilateral breast cancer		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: bilateral breast cancer	PMID:18199528|PMID:21859464|PMID:21901162|PMID:24033266|PMID:25637381|PMID:25741868|PMID:25925381|PMID:26467025|PMID:26580448|PMID:26845104|PMID:27150160|PMID:28492532|PMID:29641532|PMID:30267214|PMID:34426522|PMID:35264596
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736624	D	RGD:7240710	20180130	OMIM			
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736624	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:11466687|PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:24728327|PMID:25479140|PMID:25741868|PMID:26530882|PMID:27081525|PMID:28135048|PMID:28195569|PMID:28492532|PMID:8381579|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: Hepatoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA	PMID:10083733|PMID:10713886|PMID:11001924|PMID:11257105|PMID:11317365|PMID:11748858|PMID:12034871|PMID:12357334|PMID:12494469|PMID:1316610|PMID:1324223|PMID:14961559|PMID:15108286|PMID:15311282|PMID:15951963|PMID:16088911|PMID:16461775|PMID:17064931|PMID:17293347|PMID:17411426|PMID:17963004|PMID:18199528|PMID:18410690|PMID:18433509|PMID:19531215|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20685668|PMID:20924072|PMID:21153778|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:23159591|PMID:24033266|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25203624|PMID:25318351|PMID:25479140|PMID:25559809|PMID:25590978|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25980754|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27081525|PMID:27150160|PMID:27302369|PMID:27498913|PMID:27600092|PMID:27621404|PMID:27852271|PMID:28125075|PMID:28179481|PMID:28202063|PMID:28283864|PMID:28492532|PMID:28502729|PMID:28526081|PMID:28873162|PMID:28944238|PMID:29192238|PMID:29641532|PMID:29684080|PMID:29887214|PMID:30267214|PMID:30458888|PMID:30897307|PMID:31159747|PMID:31175917|PMID:31269945|PMID:31422818|PMID:31613886|PMID:31854063|PMID:31942411|PMID:32547938|PMID:32980694|PMID:33020649|PMID:33294277|PMID:33309985|PMID:34250417|PMID:34326862|PMID:34352208|PMID:34426522|PMID:34666312|PMID:34707284|PMID:34897210|PMID:35101336|PMID:35189564|PMID:35264596|PMID:35430768|PMID:35586626|PMID:36243179|PMID:36896836|PMID:36988593|PMID:8381579|PMID:8395941|PMID:9101302|PMID:9585611|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:687	hepatoblastoma		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	PMID:1316610|PMID:15311282|PMID:17293347|PMID:20685668|PMID:22135120|PMID:27081525|PMID:28492532|PMID:35495172|PMID:8381579|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:7998	hyperthyroidism		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:25741868|PMID:27081525|PMID:28492532|PMID:8381579|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:736624	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:15447999|REF_RGD_ID:2317199
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:736624	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Gastric neoplasm | ClinVar Annotator: match by term: Neoplasm of stomach | ClinVar Annotator: match by term: Stomach Neoplasms	PMID:15459959|PMID:17489848|PMID:17576681|PMID:18199528|PMID:19793053|PMID:20223039|PMID:20685668|PMID:21859464|PMID:21901162|PMID:22431159|PMID:23159591|PMID:24033266|PMID:24599579|PMID:25590978|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25980754|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27150160|PMID:28380452|PMID:28492532|PMID:29237405|PMID:29641532|PMID:29684080|PMID:30267214|PMID:32658311|PMID:34426522|PMID:35264596|PMID:8381580|PMID:9536098
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neoplasm of stomach | ClinVar Annotator: match by term: Stomach Neoplasms	PMID:10083733|PMID:11257105|PMID:12034871|PMID:12357334|PMID:1316610|PMID:1324223|PMID:15108286|PMID:15311282|PMID:15951963|PMID:16088911|PMID:16461775|PMID:17293347|PMID:17963004|PMID:18199528|PMID:18410690|PMID:18433509|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:22135120|PMID:24033266|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25980754|PMID:26467025|PMID:26580448|PMID:26613750|PMID:26845104|PMID:26976419|PMID:27081525|PMID:27150160|PMID:27302369|PMID:28179481|PMID:28492532|PMID:29641532|PMID:29887214|PMID:30267214|PMID:30897307|PMID:31942411|PMID:34352208|PMID:34426522|PMID:34666312|PMID:35101336|PMID:35264596|PMID:36243179|PMID:36988593|PMID:8381579|PMID:9585611|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9111214
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9001031	Retrognathia		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:17963004|PMID:20685668|PMID:21142386|PMID:25741868|PMID:27930734|PMID:28492532
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9001039	Leukocytosis		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27725143
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9001239	Delayed Puberty		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:27081525|PMID:28492532|PMID:8381579|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9001276	Failure to Thrive		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:27081525|PMID:28492532|PMID:8381579|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9001441	Adenomatous Polyps		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12810952
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9001642	Intestinal Polyps		ISO	RGD:736624	D	RGD:9068941	20230803	CTD		CTD Direct Evidence: marker/mechanism	PMID:12189188|PMID:14991580|PMID:15063141|PMID:24431404|PMID:26262998|PMID:31715269|PMID:8561861
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9001981	Weight Loss		ISO	RGD:736624	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:24431404|PMID:35362542
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9002221	Hyperplasia		ISO	RGD:10166	D	RGD:9068941	20200609	RGD			PMID:17596282|REF_RGD_ID:2317191
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9002232	Attenuated Adenomatous Polyposis Coli		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRAIN TUMOR-POLYPOSIS SYNDROME 2	PMID:11317365|PMID:1316610|PMID:1324223|PMID:15108288|PMID:17963004|PMID:20223039|PMID:20685668|PMID:26467025|PMID:28492532|PMID:31062380|PMID:7661930|PMID:8990002|PMID:9950360
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9002245	Intestinal Neoplasms		ISO	RGD:10166	D	RGD:9068941	20200609	RGD			PMID:16959882|PMID:8090754|REF_RGD_ID:6484212|REF_RGD_ID:7242058
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9002245	Intestinal Neoplasms		ISO	RGD:2123	D	RGD:9068941	20201211	RGD			PMID:17360473|REF_RGD_ID:1601201
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9002245	Intestinal Neoplasms		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14706516|PMID:16962818|PMID:19092804|PMID:26335331|PMID:27840820|PMID:9111214
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17363566|PMID:29610475
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9002720	Splenomegaly		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27725143
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9002722	Gastric Adenocarcinoma and Proximal Polyposis of the Stomach		ISO	RGD:736624	D	RGD:7240710	20210303	OMIM			
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9002722	Gastric Adenocarcinoma and Proximal Polyposis of the Stomach		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric adenocarcinoma and proximal polyposis of the stomach | ClinVar Annotator: match by term: Polyposis of gastric fundus without polyposis coli	PMID:10713886|PMID:11001924|PMID:11317365|PMID:11748858|PMID:1316610|PMID:14961559|PMID:15311282|PMID:16461775|PMID:17064931|PMID:17293347|PMID:17411426|PMID:17963004|PMID:18199528|PMID:19531215|PMID:20223039|PMID:20434453|PMID:20685668|PMID:21779980|PMID:21859464|PMID:22135120|PMID:22645652|PMID:23159591|PMID:24033266|PMID:24055113|PMID:24728327|PMID:25186627|PMID:25318351|PMID:25559809|PMID:25590978|PMID:25637381|PMID:25741868|PMID:25778705|PMID:25980754|PMID:25981591|PMID:26447891|PMID:26467025|PMID:26580448|PMID:26900293|PMID:27028212|PMID:27081525|PMID:27498913|PMID:28301460|PMID:28492532|PMID:28502729|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29684080|PMID:30267214|PMID:30897307|PMID:31159747|PMID:31269945|PMID:31422818|PMID:32547938|PMID:32980694|PMID:33294277|PMID:34326862|PMID:34897210|PMID:35586626|PMID:36243179|PMID:8381579|PMID:8395941|PMID:9101302|PMID:9585611|PMID:9824584|PMID:9950360
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9002722	Gastric Adenocarcinoma and Proximal Polyposis of the Stomach		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric adenocarcinoma and proximal polyposis of the stomach	PMID:10713886|PMID:11001924|PMID:11317365|PMID:11748858|PMID:12494469|PMID:1316610|PMID:14961559|PMID:15311282|PMID:16461775|PMID:17064931|PMID:17293347|PMID:17411426|PMID:17963004|PMID:18199528|PMID:19531215|PMID:20223039|PMID:20685668|PMID:21153778|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:23159591|PMID:24033266|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25203624|PMID:25318351|PMID:25479140|PMID:25559809|PMID:25590978|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25980754|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26517685|PMID:26580448|PMID:26845104|PMID:26900293|PMID:27081525|PMID:27150160|PMID:27498913|PMID:27600092|PMID:27621404|PMID:27852271|PMID:28125075|PMID:28202063|PMID:28283864|PMID:28492532|PMID:28502729|PMID:28526081|PMID:28873162|PMID:28944238|PMID:29192238|PMID:29245953|PMID:29641532|PMID:29684080|PMID:30267214|PMID:30458888|PMID:30897307|PMID:31159747|PMID:31175917|PMID:31269945|PMID:31422818|PMID:31613886|PMID:31854063|PMID:32547938|PMID:32980694|PMID:33020649|PMID:33294277|PMID:33309985|PMID:34250417|PMID:34326862|PMID:34426522|PMID:34707284|PMID:34897210|PMID:35189564|PMID:35264596|PMID:35430768|PMID:35586626|PMID:36243179|PMID:36896836|PMID:8381579|PMID:8395941|PMID:9101302|PMID:9585611|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:736624	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Colonic Neoplasms	PMID:17963004|PMID:20223039|PMID:20685668|PMID:25525159|PMID:25741868|PMID:28492532|PMID:7959691
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9003133	Hypertelorism		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:17963004|PMID:20685668|PMID:21142386|PMID:25741868|PMID:27930734|PMID:28492532
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9003291	Aggressive Fibromatosis		ISO	RGD:736624	D	RGD:9068941	20240203	CTD		CTD Direct Evidence: marker/mechanism	PMID:11816139
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9003566	Mesothelioma		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17659810
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9003816	Macrocephaly		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:17963004|PMID:20685668|PMID:21142386|PMID:25741868|PMID:27930734|PMID:28492532
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9003987	Gastric Polyposis		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: POLYPOSIS, GASTRIC	PMID:10713886|PMID:11001924|PMID:11317365|PMID:11748858|PMID:12494469|PMID:1316610|PMID:14961559|PMID:15311282|PMID:16461775|PMID:17064931|PMID:17293347|PMID:17411426|PMID:17963004|PMID:18199528|PMID:19531215|PMID:20223039|PMID:20685668|PMID:21153778|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:23159591|PMID:24033266|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25203624|PMID:25318351|PMID:25479140|PMID:25559809|PMID:25590978|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25980754|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26517685|PMID:26580448|PMID:26845104|PMID:26900293|PMID:27081525|PMID:27150160|PMID:27498913|PMID:27600092|PMID:27621404|PMID:27852271|PMID:28125075|PMID:28202063|PMID:28283864|PMID:28492532|PMID:28502729|PMID:28526081|PMID:28873162|PMID:28944238|PMID:29192238|PMID:29641532|PMID:29684080|PMID:30267214|PMID:30458888|PMID:30897307|PMID:31159747|PMID:31175917|PMID:31269945|PMID:31422818|PMID:31613886|PMID:31854063|PMID:32547938|PMID:32980694|PMID:33020649|PMID:33294277|PMID:33309985|PMID:34250417|PMID:34326862|PMID:34426522|PMID:34707284|PMID:34897210|PMID:35189564|PMID:35264596|PMID:35430768|PMID:35586626|PMID:36243179|PMID:36896836|PMID:8381579|PMID:8395941|PMID:9101302|PMID:9585611|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9004271	Colonic Polyps		ISO	RGD:2123	D	RGD:9068941	20201211	RGD			PMID:17360473|REF_RGD_ID:1601201
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9004271	Colonic Polyps		ISO	RGD:736624	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:23852423
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9004351	Digestive System Neoplasms		ISO	RGD:736624	D	RGD:9068941	20200609	RGD		DNA:missense mutation, insertion, loss of heterozygosity	PMID:9369932|REF_RGD_ID:2317206
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9004594	Jaw Neoplasms		ISO	RGD:2123	D	RGD:9068941	20201211	RGD			PMID:17360473|REF_RGD_ID:1601201
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9005100	Aberrant Crypt Foci		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14507667
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18337602
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9005564	Hepatoblastoma Caused By Somatic Mutation		ISO	RGD:736624	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEPATOBLASTOMA, SOMATIC	
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9005616	Micrognathism		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:17963004|PMID:20685668|PMID:21142386|PMID:25741868|PMID:27930734|PMID:28492532
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9005773	Intestinal Polyposis, Osteomas, Sebaceous Cysts		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intestinal polyposis, osteomas, sebaceous cysts	PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9006031	Abdominal Fibromatosis		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10686957
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9006796	Gastrointestinal Neoplasms		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21297660
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9006802	Attenuated Familial Adenomatous Polyposis		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Attenuated familial adenomatous polyposis	PMID:11257105|PMID:12034871|PMID:16461775|PMID:17963004|PMID:18410690|PMID:18433509|PMID:20301519|PMID:20685668|PMID:25741868|PMID:25980754|PMID:28492532|PMID:29887214|PMID:34666312|PMID:36988593|PMID:9585611
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10598803|PMID:10612827|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11466687|PMID:11551102|PMID:11606402|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11768389|PMID:11818965|PMID:11839722|PMID:11852337|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12533824|PMID:12581900|PMID:12702169|PMID:12721244|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:1678319|PMID:16875934|PMID:16883523|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17230660|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17576681|PMID:17604324|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19331226|PMID:19336753|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20033787|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20682701|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21520333|PMID:21643010|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22164339|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22585170|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22875147|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25676610|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25832318|PMID:25925381|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26414517|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27282352|PMID:27284491|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28663347|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:28891274|PMID:28944238|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29562902|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31921681|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32283892|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33242120|PMID:33332384|PMID:33436027|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:35142982|PMID:7490101|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7959691|PMID:8103406|PMID:8111410|PMID:8125478|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8940262|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9375853|PMID:9382065|PMID:9452101|PMID:9487968|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10598803|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11466687|PMID:11551102|PMID:11606402|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11768389|PMID:11818965|PMID:11839722|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12533824|PMID:12581900|PMID:12702169|PMID:12721244|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:1678319|PMID:16875934|PMID:16883523|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17230660|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17576681|PMID:17604324|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19331226|PMID:19336753|PMID:19347965|PMID:19409520|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20682701|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21520333|PMID:21643010|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22585170|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23571587|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25338684|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062|PMID:25832318|PMID:25925381
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29485843|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29562902|PMID:29596542|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32283892|PMID:32390703|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33332384|PMID:33436027|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:33875564|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34754157|PMID:35142982|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7959691|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29485843|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29562902|PMID:29596542|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32283892|PMID:32390703|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33332384|PMID:33436027|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:33875564|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34754157|PMID:35128723|PMID:35142982|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7959691|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8940262|PMID:8941012|PMID:8956059
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29485843|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29562902|PMID:29596542|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32283892|PMID:32390703|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33332384|PMID:33436027|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:33875564|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34754157|PMID:35128723|PMID:35142982|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7959691|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8940262|PMID:8941012
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10598803|PMID:10612827|PMID:10634400|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11355315|PMID:11466687|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11754114|PMID:11768389|PMID:11818965|PMID:11823972|PMID:11839722|PMID:11852337|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12721244|PMID:12894596|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14522379|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15654777|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16111973|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:16478792|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:1678319|PMID:16875934|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17576681|PMID:17604324|PMID:17665205|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18224684|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18393237|PMID:1843350|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19331226|PMID:19336753|PMID:19347965|PMID:19409520|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:19995397|PMID:20007843|PMID:20033787|PMID:20223039|PMID:20232483|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:20682701|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21270786|PMID:21315632|PMID:21520333|PMID:21533174|PMID:21598003|PMID:21643010|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21909382|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22164339|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22585170|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23054214|PMID:23085758|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23771323|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24233542|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:24599579|PMID:24618431|PMID:24651015|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25665006|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062|PMID:25832318|PMID:25925381|PMID:25938944|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26414517|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26684191|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26934580|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28002797|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28349240|PMID:28380452|PMID:28413499|PMID:28423518|PMID:28481359|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28640387|PMID:28663347|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29109117|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29150975|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29251405|PMID:29360161|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29458332|PMID:29478780|PMID:29485843|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29518763|PMID:29535845|PMID:29562902|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29754767|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30006736|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256815|PMID:30256826|PMID:30267214|PMID:30287922|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30523670|PMID:30569724|PMID:30580288|PMID:30584346|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30809968|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31175917
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31186761|PMID:31269945|PMID:31273614|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31744909|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32123317|PMID:32251017|PMID:32255556|PMID:32283892|PMID:32390703|PMID:32543227|PMID:32547059|PMID:32547938|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:33009979|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33279946|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:33977078|PMID:34034685|PMID:34106356|PMID:34250417|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34479915|PMID:34545850|PMID:34754157|PMID:34855061|PMID:34897210|PMID:35098669|PMID:35128723|PMID:35142982|PMID:36988593|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7661930|PMID:7746201|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7951218|PMID:7959691|PMID:8020934|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8910893|PMID:8940262|PMID:8940264|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9452101|PMID:9476377|PMID:9487968|PMID:9494520|PMID:950360|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9765274|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31273614|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31570899|PMID:31702654|PMID:31703593|PMID:31744909|PMID:31780696|PMID:31802619|PMID:31874108|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32067438|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32123317|PMID:32251017|PMID:32255556|PMID:32283892|PMID:32390703|PMID:32543227|PMID:32547059|PMID:32547938|PMID:32552793|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:33009979|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33279946|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33525650|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:33977078|PMID:34034685|PMID:34106356|PMID:34250417|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34479915|PMID:34545850|PMID:34754157|PMID:34855061|PMID:34897210|PMID:35070997|PMID:35098669|PMID:35128723|PMID:35142982|PMID:35264596|PMID:35430768|PMID:35979026|PMID:35980532|PMID:36097219|PMID:36356413|PMID:36988593|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7661930|PMID:7746201|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7951218|PMID:7959691|PMID:8020934|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8910893|PMID:8940262|PMID:8940264|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9452101|PMID:9476377|PMID:9487968|PMID:9494520|PMID:950360|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9765274|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10598803|PMID:10612827|PMID:10634400|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11355315|PMID:11466687|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11754114|PMID:11768389|PMID:11818965|PMID:11823972|PMID:11839722|PMID:11852337|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12721244|PMID:12894596|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14522379|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14734220|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15446460|PMID:15459959|PMID:15654777|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:15986289|PMID:16088911|PMID:16111973|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:16478792|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:1678319|PMID:16875934|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17576681|PMID:17604324|PMID:17665205|PMID:17704924|PMID:17726045|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18224684|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18393237|PMID:1843350|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19331226|PMID:19336753|PMID:19347965|PMID:19409520|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:19995397|PMID:20007843|PMID:20033787|PMID:20223039|PMID:20232483|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:20682701|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21157497|PMID:21315632|PMID:21520333|PMID:21533174|PMID:21598003|PMID:21643010|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21909382|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22164339|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22585170|PMID:22608206|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22773231|PMID:22799487|PMID:22809634|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22895193|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23054214|PMID:23085758|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23274167|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23571587|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23771323|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24142997
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:24233542|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651015|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25231023|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25665006|PMID:25676610|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062|PMID:25832318|PMID:25925381|PMID:25938944|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26414517|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26650777|PMID:26667234|PMID:26681312|PMID:26684191|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26934580|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27311873|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27425854|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28002797|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28349240|PMID:28380452|PMID:28413499|PMID:28423518|PMID:28481359|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28569743|PMID:28576136|PMID:28595259|PMID:28608266|PMID:28640387|PMID:28663347|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29109117|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29150975|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29251405|PMID:29338072|PMID:29351919|PMID:29360161|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29518763|PMID:29535845|PMID:29562902|PMID:29596542|PMID:29620724|PMID:29625052|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29748005|PMID:29752822|PMID:29753700|PMID:29754767|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30006736|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30252101|PMID:30256815|PMID:30256826|PMID:30257133|PMID:30267214|PMID:30287922|PMID:30306255|PMID:30324682
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30374176|PMID:30426508|PMID:30443844|PMID:30487145|PMID:30523670|PMID:30569724|PMID:30580288|PMID:30613976|PMID:30620386|PMID:30666417|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30809968|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31133068|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31273614|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31469036|PMID:31486992|PMID:31504825|PMID:31547467|PMID:31552911|PMID:31570899|PMID:31613886|PMID:31702654|PMID:31703593|PMID:31744909|PMID:31780696|PMID:31802619|PMID:31854063|PMID:31874108|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32067438|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32123317|PMID:32251017|PMID:32255556|PMID:32283892|PMID:32369273|PMID:32390703|PMID:32543227|PMID:32547059|PMID:32547938|PMID:32552793|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32720237|PMID:32751567|PMID:32754865|PMID:32829589|PMID:32854451|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:33009979|PMID:33011440|PMID:33087929|PMID:33193653|PMID:33242120|PMID:33279946|PMID:33294277|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33525650|PMID:33606809|PMID:33646313|PMID:33670833|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:33977078|PMID:34034685|PMID:34106356|PMID:34250417|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34426522|PMID:34479915|PMID:34545850|PMID:34646395|PMID:34707284|PMID:34754157|PMID:34855061|PMID:34897210|PMID:34921310|PMID:35070997|PMID:35098669|PMID:35128723|PMID:35142982|PMID:35189564|PMID:35264596|PMID:35430768|PMID:35534704|PMID:35979026|PMID:35980532|PMID:36097219|PMID:36225625|PMID:36243179|PMID:36356413|PMID:36586069|PMID:36988593|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7661930|PMID:7746201|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7951218|PMID:7959691|PMID:8020934|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8910893|PMID:8940262|PMID:8940264|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9452101|PMID:9476377|PMID:9487968|PMID:9494520|PMID:950360|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9765274|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:23709753|PMID:23715166|PMID:23771323|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24142997|PMID:24233542|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651015|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:24770791|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25231023|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25338684|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25665006|PMID:25676610|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062|PMID:25832318|PMID:25925381|PMID:25938944|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26373574|PMID:26378065|PMID:26394139|PMID:26414517|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26650777|PMID:26667234|PMID:26681312|PMID:26684191|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26934580|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27311873|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27425854|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27777639|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28002797|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28349240|PMID:28380452|PMID:28413499|PMID:28423518|PMID:28481359|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28569743|PMID:28576136|PMID:28595259|PMID:28608266|PMID:28640387|PMID:28663347|PMID:28706299|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29069792|PMID:29109117|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29150975|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29251405|PMID:29338072|PMID:29351919|PMID:29360161|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29518763|PMID:29535845|PMID:29562902|PMID:29596542|PMID:29620724|PMID:29625052|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29748005|PMID:29752822|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:2996804|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30006736|PMID:30067863|PMID:30086788|PMID:30093976
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30252101|PMID:30256815|PMID:30256826|PMID:30257133|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30443844|PMID:30458888|PMID:30487145|PMID:30523670|PMID:30569724|PMID:30580288|PMID:30613976|PMID:30620386|PMID:30666417|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30809968|PMID:30814645|PMID:30833958|PMID:30852976|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31133068|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31273614|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31372739|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31469036|PMID:31486992|PMID:31504825|PMID:31547467|PMID:31552911|PMID:31570899|PMID:31591141|PMID:31613886|PMID:31702654|PMID:31703593|PMID:31744909|PMID:31780696|PMID:31802619|PMID:31854063|PMID:31874108|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32067438|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32123317|PMID:32251017|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32369273|PMID:32390703|PMID:32504335|PMID:32543227|PMID:32547059|PMID:32547938|PMID:32552793|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32720237|PMID:32751567|PMID:32754865|PMID:32829589|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:33009979|PMID:33011440|PMID:33087929|PMID:33193653|PMID:33242120|PMID:33279946|PMID:33294277|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33359728|PMID:33436027|PMID:33503190|PMID:33525650|PMID:33606809|PMID:33646313|PMID:33670833|PMID:33769591|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:33977078|PMID:34034685|PMID:34106356|PMID:34250417|PMID:34259353|PMID:34271781|PMID:34301788|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34426522|PMID:34479915|PMID:34545850|PMID:34646395|PMID:34666312|PMID:34707284|PMID:34754157|PMID:34771502|PMID:34855061|PMID:34897210|PMID:34921310|PMID:35070997|PMID:35098669|PMID:35128723|PMID:35142982|PMID:35189564|PMID:35205366|PMID:35260767|PMID:35264596|PMID:35418818|PMID:35430768|PMID:35534704|PMID:35979026|PMID:35980532|PMID:36097219|PMID:36225625|PMID:36243179|PMID:36356413|PMID:36586069|PMID:36672847|PMID:36898365|PMID:36900197|PMID:36988593|PMID:37965459|PMID:38054408|PMID:7306523|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7661930|PMID:7746201|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7951218|PMID:7959691|PMID:7981688|PMID:8020934|PMID:8103406|PMID:8111410|PMID:8125478|PMID:814096|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8910893|PMID:8940262|PMID:8940264|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9375853|PMID:9382065|PMID:9452101|PMID:9487968|PMID:9494520|PMID:950360|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9703421|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9765274|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10598803|PMID:10612827|PMID:10634400|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11355315|PMID:11466687|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11668620|PMID:11677205|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11754114|PMID:11768389|PMID:11818965|PMID:11819789|PMID:11823972|PMID:11839722|PMID:11852337|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12721244|PMID:12894596|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14522379|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14734220|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15446460|PMID:15459959|PMID:15654777|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:15952110|PMID:15986289|PMID:16088911|PMID:16106429|PMID:16111973|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:16478792|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:16710723|PMID:1678319|PMID:16875934|PMID:16944273|PMID:17026565|PMID:17039269|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17665205|PMID:17704924|PMID:17726045|PMID:17785554|PMID:17854661|PMID:17881494|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18224684|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18393237|PMID:1843350|PMID:18433509|PMID:18487285|PMID:18587328|PMID:186122|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19331226|PMID:19336753|PMID:19347965|PMID:19409520|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:19995397|PMID:20007843|PMID:20033787|PMID:20223039|PMID:20232483|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:20682701|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21157497|PMID:21255554|PMID:21315632|PMID:21520333|PMID:21533174|PMID:21598003|PMID:21643010|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21909382|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22164339|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22585170|PMID:22608206|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22773231|PMID:22799487|PMID:22809634|PMID:22809968|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22895193|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23054214|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23274167|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23571587|PMID:23575299|PMID:23576677
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:23700467|PMID:23709753|PMID:23715166|PMID:23771323|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24142997|PMID:24233542|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651015|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:24770791|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25231023|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25665006|PMID:25676610|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062|PMID:25832318|PMID:25882375|PMID:25925381|PMID:25938944|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26373574|PMID:26378065|PMID:26394139|PMID:26414517|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26650777|PMID:26667234|PMID:26681312|PMID:26684191|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26934580|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27311873|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27425854|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27777639|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28002797|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28349240|PMID:28380452|PMID:28413499|PMID:28423518|PMID:28481359|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28569743|PMID:28576136|PMID:28595259|PMID:28608266|PMID:28640387|PMID:28663347|PMID:28706299|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29069792|PMID:29109117|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29150975|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29251405|PMID:29338072|PMID:29351919|PMID:29360161|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29518763|PMID:29535845|PMID:29562902|PMID:29596542|PMID:29620724|PMID:29625052|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29748005|PMID:29752822|PMID:29753700|PMID:29754767|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:2996804|PMID:29968043|PMID:29978187
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29987844|PMID:30006736|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30252101|PMID:30256815|PMID:30256826|PMID:30257133|PMID:30267214|PMID:30274973|PMID:30279230|PMID:30287922|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30443844|PMID:30458888|PMID:30487145|PMID:30523670|PMID:30569724|PMID:30580288|PMID:30613976|PMID:30620386|PMID:30666417|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30720243|PMID:30809968|PMID:30814645|PMID:30833958|PMID:30852976|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31133068|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31273614|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31372739|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31469036|PMID:31486992|PMID:31504825|PMID:31547467|PMID:31552911|PMID:31570899|PMID:31591141|PMID:31613886|PMID:31702654|PMID:31703593|PMID:31744909|PMID:31780696|PMID:31802619|PMID:31854063|PMID:31874108|PMID:31921681|PMID:31937788|PMID:31942411|PMID:31970404|PMID:32067438|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32123317|PMID:32251017|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32369273|PMID:32390703|PMID:32504335|PMID:32543103|PMID:32543227|PMID:32547059|PMID:32547938|PMID:32552793|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32720237|PMID:32751567|PMID:32754865|PMID:32829589|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:32999869|PMID:33009979|PMID:33011440|PMID:33087929|PMID:33134403|PMID:33193653|PMID:33242120|PMID:33279946|PMID:33294277|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33359728|PMID:33436027|PMID:33503190|PMID:33525650|PMID:33558524|PMID:33569305|PMID:33606809|PMID:33646313|PMID:33670833|PMID:33769591|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:33977078|PMID:34034685|PMID:34106356|PMID:34250417|PMID:34259353|PMID:34271781|PMID:34301788|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34426522|PMID:34479915|PMID:34545850|PMID:34646395|PMID:34666312|PMID:34707284|PMID:34754157|PMID:34771502|PMID:34855061|PMID:34897210|PMID:34921310|PMID:35070997|PMID:35098669|PMID:35128723|PMID:35142982|PMID:35189564|PMID:35205366|PMID:35260767|PMID:35264596|PMID:35418818|PMID:35430768|PMID:35467778|PMID:35534704|PMID:35979026|PMID:35980532|PMID:36097219|PMID:36225625|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36586069|PMID:36672847|PMID:36898365|PMID:36900197|PMID:36988593|PMID:37206458|PMID:37306523|PMID:37965459|PMID:38054408|PMID:38564685|PMID:38635099|PMID:7306523|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7661930|PMID:7746201|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7951218|PMID:7959691|PMID:7981688|PMID:8020934|PMID:8103406|PMID:8111410|PMID:8125478|PMID:814096|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8910893|PMID:8940262|PMID:8940264|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9382065|PMID:9452101|PMID:9487968|PMID:9494520|PMID:950360|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9703421|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9765274|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10077047|PMID:10083733|PMID:10094547|PMID:10213492|PMID:10346819|PMID:10439961|PMID:10470088|PMID:10612827|PMID:10634400|PMID:10646887|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11355315|PMID:11487578|PMID:11551102|PMID:11559652|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11754114|PMID:11768389|PMID:11819789|PMID:11839722|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12486240|PMID:12503191|PMID:12533824|PMID:12537656|PMID:12621137|PMID:12702169|PMID:12721244|PMID:12894596|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14624392|PMID:14633595|PMID:14672538|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15266213|PMID:15300853|PMID:15311282|PMID:15446460|PMID:15459959|PMID:15654777|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16106429|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16317745|PMID:16454848|PMID:16461775|PMID:16478792|PMID:1651174|PMID:16569251|PMID:1678319|PMID:16875934|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17169185|PMID:17189293|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17576681|PMID:17604324|PMID:17726045|PMID:17854661|PMID:17881494|PMID:17920230|PMID:17963004|PMID:18166348|PMID:18199528|PMID:18224684|PMID:18343606|PMID:18387968|PMID:18410690|PMID:1843350|PMID:18433509|PMID:18629394|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19336753|PMID:19444466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:19995397|PMID:20033787|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21157497|PMID:21520333|PMID:21533174|PMID:21598003|PMID:21643010|PMID:21779980|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22164339|PMID:22395475|PMID:22431159|PMID:22434720|PMID:22669205|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22773231|PMID:22809968|PMID:22863191|PMID:22864254|PMID:22875147|PMID:22941256|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23185543|PMID:23244118|PMID:23292937|PMID:23575299|PMID:23576677|PMID:23709753|PMID:23715166|PMID:23771323|PMID:23846443|PMID:23896379|PMID:23970361|PMID:24033266|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24506336|PMID:24599579|PMID:24651015|PMID:24728327|PMID:24770791|PMID:25085752|PMID:25142776|PMID:25148578|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25256751|PMID:25318351|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25676610|PMID:25741868|PMID:25819062|PMID:25832318|PMID:25925381|PMID:25980754|PMID:26000489|PMID:26023681|PMID:26161710|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26332594|PMID:26378065|PMID:26394139|PMID:26414517|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26467025|PMID:26480326|PMID:26510091|PMID:26517685|PMID:26530882|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26934580|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27081525|PMID:27087319|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27158207|PMID:27221540|PMID:27302369|PMID:27354939|PMID:27449473|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27993330|PMID:28002797|PMID:28050010
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28092266|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28157215|PMID:28179481|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28283864|PMID:28377483|PMID:28413499|PMID:28423518|PMID:28481359|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28607096|PMID:28663347|PMID:28717660|PMID:28726808|PMID:28726821|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28944238|PMID:29050249|PMID:29122597|PMID:29150975|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29251405|PMID:29338072|PMID:29360161|PMID:29406563|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29518763|PMID:29525529|PMID:29535845|PMID:29620724|PMID:29641532|PMID:29681454|PMID:29684080|PMID:29723602|PMID:29752822|PMID:29753700|PMID:29754767|PMID:29887214|PMID:29901124|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30006736|PMID:30067863|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30171174|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30279230|PMID:30287922|PMID:30306255|PMID:30311378|PMID:30392813|PMID:30426508|PMID:30458888|PMID:30487145|PMID:30523670|PMID:30569724|PMID:30580288|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30720243|PMID:30809968|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31118792|PMID:31133068|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31209238|PMID:31269945|PMID:31273614|PMID:31285513|PMID:31360874|PMID:31372739|PMID:31403082|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31504825|PMID:31547467|PMID:31552911|PMID:31591141|PMID:31613886|PMID:31702654|PMID:31703593|PMID:31703728|PMID:31780696|PMID:31802619|PMID:31854063|PMID:31921681|PMID:3193653|PMID:31942411|PMID:32079666|PMID:32088909|PMID:32123317|PMID:32255556|PMID:32277542|PMID:32369273|PMID:32543227|PMID:32547938|PMID:32552793|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32984025|PMID:33011440|PMID:33020649|PMID:33094510|PMID:33134403|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33558524|PMID:33569305|PMID:33606809|PMID:33646313|PMID:33769591|PMID:33788735|PMID:33821390|PMID:33875564|PMID:34072712|PMID:34224960|PMID:34250417|PMID:34259353|PMID:34271781|PMID:34301788|PMID:34326862|PMID:34347074|PMID:34352208|PMID:34371384|PMID:34426522|PMID:34654685|PMID:34666312|PMID:34707284|PMID:34754157|PMID:34897210|PMID:34921310|PMID:35014770|PMID:35070997|PMID:35098669|PMID:35101336|PMID:35142982|PMID:35189564|PMID:35264596|PMID:35296888|PMID:35430768|PMID:35467778|PMID:35534218|PMID:35534704|PMID:35586626|PMID:35633533|PMID:35739269|PMID:35966080|PMID:35979026|PMID:35980532|PMID:36008414|PMID:36084716|PMID:36179682|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36672847|PMID:36807005|PMID:36845387|PMID:36896836|PMID:36900197|PMID:36988593|PMID:37039257|PMID:37076288|PMID:37149903|PMID:37206458|PMID:37377590|PMID:37542411|PMID:37800450|PMID:37965459|PMID:38054408|PMID:38185290|PMID:38254803|PMID:38332908|PMID:38564685|PMID:38635099|PMID:38697781|PMID:38849509|PMID:39042403|PMID:39357517|PMID:39478120|PMID:39932215|PMID:41064934|PMID:7490101|PMID:7661930|PMID:7746201|PMID:7833936|PMID:7853377|PMID:7951218|PMID:7959691|PMID:8020934|PMID:8111410|PMID:8125478|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8730280|PMID:8834176|PMID:8844222|PMID:8940264|PMID:8956059|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9288102|PMID:9375853|PMID:9382065|PMID:9452101|PMID:9487968|PMID:950360|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm of the liver	PMID:25741868|PMID:28492532|PMID:32088909|PMID:32984025
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007284	Precocious Puberty		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:10713886|PMID:11001924|PMID:11317365|PMID:11748858|PMID:1316610|PMID:15311282|PMID:16461775|PMID:17293347|PMID:17411426|PMID:17963004|PMID:19531215|PMID:20223039|PMID:20685668|PMID:22135120|PMID:23159591|PMID:25559809|PMID:25590978|PMID:25741868|PMID:26467025|PMID:27081525|PMID:28492532|PMID:33294277|PMID:8381579|PMID:9585611|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19092804|PMID:21967605
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007661	Dwarfism		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:27081525|PMID:28492532|PMID:8381579|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:10166	D	RGD:9068941	20200609	RGD			PMID:24474556|REF_RGD_ID:13524584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16938888
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:736624	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:12907644|PMID:17116713|PMID:18716850|PMID:19309276|PMID:21291235|PMID:21531761|PMID:21967605
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736624	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:20301519|PMID:28492532|PMID:33606809
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:736624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24430131
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9009045	Gardner Syndrome		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GARDNER SYNDROME | ClinVar Annotator: match by term: Gardner syndrome | ClinVar Annotator: match by term: Gardner's syndrome	PMID:10077047|PMID:10094547|PMID:10346819|PMID:10982189|PMID:12007223|PMID:12010888|PMID:12173026|PMID:12486240|PMID:1316610|PMID:15024739|PMID:15311282|PMID:15951963|PMID:16134147|PMID:1651563|PMID:17293347|PMID:17963004|PMID:18199528|PMID:18433509|PMID:20223039|PMID:20649969|PMID:20685668|PMID:20924072|PMID:21779980|PMID:22135120|PMID:23159591|PMID:25590978|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26613750|PMID:27081525|PMID:28492532|PMID:30897307|PMID:31118792|PMID:33094510|PMID:35014770|PMID:35101336|PMID:35296888|PMID:35979026|PMID:36084716|PMID:37542411|PMID:8381579|PMID:8381580|PMID:9487968|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:736624	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Small Intestinal Gastrointestinal Stromal Tumor	PMID:25741868|PMID:26530882|PMID:28492532
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:736624	D	RGD:7240710	20200226	OMIM			
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:736624	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18844223|PMID:19029688|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:30152102|PMID:30267214|PMID:30426508|PMID:30487145|PMID:30814645|PMID:30897307|PMID:30980208|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31702654|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:736624	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33332384|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:736624	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33332384|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:736624	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33309985|PMID:33332384|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:736624	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12537656|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19701947|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20685668|PMID:20924072|PMID:21153778|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27600092|PMID:27621404|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:736624	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12537656|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19701947|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21153778|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27600092|PMID:27621404|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8940264|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:736624	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10083733|PMID:10094547|PMID:10439961|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16875934|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25326637|PMID:25604157|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27081525|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28492532|PMID:28595259|PMID:28717660|PMID:28749474|PMID:28805986|PMID:28828701|PMID:29371908|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31285513|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31942411|PMID:32123317|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33332384|PMID:33352971|PMID:34426522|PMID:34646395|PMID:35142982|PMID:35264596|PMID:36243179|PMID:36586069|PMID:36988593|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8835324|PMID:8940262|PMID:8940264|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:736624	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10083733|PMID:10094547|PMID:10439961|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16875934|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25326637|PMID:25604157|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27081525|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28492532|PMID:28595259|PMID:28717660|PMID:28749474|PMID:28805986|PMID:28828701|PMID:29371908|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31285513|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31942411|PMID:32123317|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33193653|PMID:33332384|PMID:33352971|PMID:34426522|PMID:34646395|PMID:35142982|PMID:35264596|PMID:35534704|PMID:36243179|PMID:36586069|PMID:36988593|PMID:38054408|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8835324|PMID:8940262|PMID:8940264|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:736624	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10083733|PMID:10094547|PMID:10439961|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16875934|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:22135120|PMID:22425061|PMID:22447671|PMID:22703879|PMID:22722839|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26207792|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26690363|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27081525|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28492532|PMID:28595259|PMID:28717660|PMID:28749474|PMID:28805986|PMID:28828701|PMID:29371908|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31285513|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31942411|PMID:32123317|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33193653|PMID:33332384|PMID:33352971|PMID:34426522|PMID:34646395|PMID:35142982|PMID:35264596|PMID:35534704|PMID:36243179|PMID:36586069|PMID:36672847|PMID:36988593|PMID:38054408|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8835324|PMID:8940262|PMID:8940264|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:736624	D	RGD:8554872	20240514	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10083733|PMID:10094547|PMID:10439961|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16875934|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:22135120|PMID:22425061|PMID:22447671|PMID:22703879|PMID:22722839|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26207792|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26690363|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27081525|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28492532|PMID:28595259|PMID:28717660|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29371908|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31285513|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31942411|PMID:32123317|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33193653|PMID:33332384|PMID:33352971|PMID:34426522|PMID:34646395|PMID:35142982|PMID:35264596|PMID:35534704|PMID:36243179|PMID:36586069|PMID:36672847|PMID:36988593|PMID:38054408|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8835324|PMID:8940262|PMID:8940264|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:736624	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: DLC1-related condition | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10083733|PMID:10094547|PMID:10439961|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12010888|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16875934|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19531215|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21270786|PMID:21859464|PMID:21901162|PMID:22135120|PMID:22425061|PMID:22447671|PMID:22703879|PMID:22722839|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25974703|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26207792|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26690363|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27081525|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27930734|PMID:27978560|PMID:27981572|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28492532|PMID:28595259|PMID:28717660|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29371908|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31285513|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31942411|PMID:32123317|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33193653|PMID:33294277|PMID:33332384|PMID:33352971|PMID:34426522|PMID:34646395|PMID:35142982|PMID:35264596|PMID:35534704|PMID:36243179|PMID:36586069|PMID:36672847|PMID:36988593|PMID:38054408|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8835324|PMID:8940262|PMID:8940264|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9585611|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:736624	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10083733|PMID:10094547|PMID:10439961|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12010888|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16875934|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19531215|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:22135120|PMID:22425061|PMID:22447671|PMID:22703879|PMID:22722839|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26207792|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26690363|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27081525|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28492532|PMID:28595259|PMID:28717660|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29371908|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31285513|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31942411|PMID:32123317|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33193653|PMID:33294277|PMID:33332384|PMID:33352971|PMID:34426522|PMID:34646395|PMID:35142982|PMID:35264596|PMID:35534704|PMID:36243179|PMID:36586069|PMID:36672847|PMID:36988593|PMID:38054408|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8835324|PMID:8940262|PMID:8940264|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9585611|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:736624	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10083733|PMID:10094547|PMID:10439961|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12010888|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16875934|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19531215|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:22135120|PMID:22425061|PMID:22447671|PMID:22703879|PMID:22722839|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26207792|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26690363|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27081525|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27852271|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28492532|PMID:28526081|PMID:28595259|PMID:28717660|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29371908|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30458888|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31285513|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31942411|PMID:32123317|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33193653|PMID:33294277|PMID:33332384|PMID:33352971|PMID:34426522|PMID:34646395|PMID:35142982|PMID:35264596|PMID:35534704|PMID:36243179|PMID:36586069|PMID:36672847|PMID:36988593|PMID:38054408|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8835324|PMID:8940262|PMID:8940264|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9585611|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:736624	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10083733|PMID:10094547|PMID:10439961|PMID:10679643|PMID:10713886|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12010888|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:1316610|PMID:1324223|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16875934|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19531215|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:22135120|PMID:22425061|PMID:22447671|PMID:22703879|PMID:22722839|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26207792|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26690363|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27081525|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27852271|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28492532|PMID:28526081|PMID:28595259|PMID:28717660|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29371908|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30458888|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31285513|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31942411|PMID:32123317|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33193653|PMID:33294277|PMID:33332384|PMID:33352971|PMID:34426522|PMID:34646395|PMID:35142982|PMID:35264596|PMID:35534704|PMID:36243179|PMID:36586069|PMID:36672847|PMID:36988593|PMID:38054408|PMID:7833149|PMID:8162022|PMID:8381579|PMID:8730280|PMID:8835324|PMID:8940262|PMID:8940264|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9585611|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:736624	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10083733|PMID:10094547|PMID:10439961|PMID:10679643|PMID:10713886|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12010888|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:1316610|PMID:1324223|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14961559|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17064931|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19531215|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:22135120|PMID:22425061|PMID:22447671|PMID:22703879|PMID:22722839|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25085752|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26207792|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26690363|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27081525|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27852271|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28492532|PMID:28526081|PMID:28595259|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29371908|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30458888|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31175917|PMID:31285513|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31937788|PMID:31942411|PMID:32123317|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33193653|PMID:33294277|PMID:33332384|PMID:33352971|PMID:34250417|PMID:34426522|PMID:34646395|PMID:34654685|PMID:35142982|PMID:35264596|PMID:35534704|PMID:36243179|PMID:36586069|PMID:36672847|PMID:36988593|PMID:37149903|PMID:38054408|PMID:7833149|PMID:8162022|PMID:8381579|PMID:8395941|PMID:8730280|PMID:8835324|PMID:8940262|PMID:8940264|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9585599|PMID:9585611|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:736624	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10083733|PMID:10094547|PMID:10439961|PMID:10679643|PMID:10713886|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12010888|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:1316610|PMID:1324223|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14961559|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17064931|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17963004|PMID:18166348|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19531215|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:22135120|PMID:22425061|PMID:22447671|PMID:22703879|PMID:22722839|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25085752|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26207792|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26690363|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27081525|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27852271|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28492532|PMID:28526081|PMID:28595259|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29371908|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30458888|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31175917|PMID:31285513|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31937788|PMID:31942411|PMID:32123317|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33193653|PMID:33294277|PMID:33332384|PMID:33352971|PMID:34250417|PMID:34426522|PMID:34646395|PMID:34654685|PMID:35142982|PMID:35264596|PMID:35534704|PMID:36243179|PMID:36586069|PMID:36672847|PMID:36988593|PMID:37076288|PMID:37149903|PMID:38054408|PMID:7833149|PMID:8162022|PMID:8381579|PMID:8395941|PMID:8730280|PMID:8835324|PMID:8940262|PMID:8940264|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9585599|PMID:9585611|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:736624	D	RGD:8554872	20250610	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10083733|PMID:10094547|PMID:10439961|PMID:10679643|PMID:10713886|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12010888|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:1316610|PMID:1324223|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14961559|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17064931|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17963004|PMID:18166348|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19531215|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21270786|PMID:21859464|PMID:21901162|PMID:22135120|PMID:22425061|PMID:22447671|PMID:22703879|PMID:22722839|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25085752|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25974703|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26207792|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26690363|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27081525|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27852271|PMID:27930734|PMID:27978560|PMID:27981572|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28492532|PMID:28526081|PMID:28595259|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29371908|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30458888|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31175917|PMID:31285513|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31937788|PMID:31942411|PMID:32123317|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33193653|PMID:33294277|PMID:33332384|PMID:33352971|PMID:34250417|PMID:34426522|PMID:34646395|PMID:34654685|PMID:35142982|PMID:35264596|PMID:35534704|PMID:36243179|PMID:36586069|PMID:36672847|PMID:36988593|PMID:37076288|PMID:37149903|PMID:38054408|PMID:7833149|PMID:8162022|PMID:8381579|PMID:8395941|PMID:8730280|PMID:8835324|PMID:8940262|PMID:8940264|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9585599|PMID:9585611|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9973276
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10083733|PMID:10094547|PMID:10713886|PMID:10923044|PMID:11001924|PMID:11221825|PMID:11247896|PMID:11317365|PMID:11748858|PMID:11904335|PMID:11960572|PMID:12357334|PMID:1316610|PMID:1324223|PMID:14616385|PMID:14961559|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15311282|PMID:15857185|PMID:15951963|PMID:16088911|PMID:16461775|PMID:1651563|PMID:17064931|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17963004|PMID:18199528|PMID:18844223|PMID:18982352|PMID:19331226|PMID:19531215|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21643010|PMID:21779980|PMID:21859464|PMID:22135120|PMID:22431159|PMID:22645652|PMID:22703879|PMID:22722839|PMID:22790147|PMID:22995991|PMID:23159591|PMID:23292937|PMID:23576677|PMID:23725351|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24728327|PMID:24946964|PMID:25178641|PMID:25186627|PMID:25243319|PMID:25318351|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25637381|PMID:25741868|PMID:25778705|PMID:25941542|PMID:25980754|PMID:25981591|PMID:26138249|PMID:26213617|PMID:26309368|PMID:26332594|PMID:26447891|PMID:26467025|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27000756|PMID:27028212|PMID:27081525|PMID:27302369|PMID:27498913|PMID:28135145|PMID:28179481|PMID:28301460|PMID:28492532|PMID:28502729|PMID:28717660|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29212164|PMID:29367705|PMID:29419868|PMID:29684080|PMID:30267214|PMID:30897307|PMID:31054147|PMID:31069152|PMID:31159747|PMID:31269945|PMID:31422818|PMID:31942411|PMID:32547938|PMID:32590455|PMID:32980694|PMID:33294277|PMID:34326862|PMID:34352208|PMID:34479915|PMID:34897210|PMID:35101336|PMID:35534704|PMID:35586626|PMID:36243179|PMID:36315513|PMID:36988593|PMID:38254803|PMID:39932215|PMID:8187091|PMID:8381579|PMID:8395941|PMID:8940264|PMID:9101302|PMID:9585611|PMID:9824584|PMID:9950360
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:736624	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm | ClinVar Annotator: match by term: POLE-related polyposis and colorectal cancer syndrome	PMID:10083733|PMID:10094547|PMID:10713886|PMID:10923044|PMID:11001924|PMID:11221825|PMID:11247896|PMID:11317365|PMID:11748858|PMID:11904335|PMID:11960572|PMID:12357334|PMID:1316610|PMID:1324223|PMID:14616385|PMID:14961559|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15311282|PMID:15857185|PMID:15951963|PMID:16088911|PMID:16461775|PMID:17064931|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17963004|PMID:18199528|PMID:18844223|PMID:18982352|PMID:19331226|PMID:19531215|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21643010|PMID:21779980|PMID:21859464|PMID:22135120|PMID:22431159|PMID:22645652|PMID:22722839|PMID:22790147|PMID:22995991|PMID:23159591|PMID:23292937|PMID:23576677|PMID:23725351|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24728327|PMID:24946964|PMID:25178641|PMID:25186627|PMID:25243319|PMID:25318351|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25637381|PMID:25741868|PMID:25778705|PMID:25941542|PMID:25980754|PMID:25981591|PMID:26138249|PMID:26213617|PMID:26309368|PMID:26332594|PMID:26447891|PMID:26467025|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27000756|PMID:27028212|PMID:27081525|PMID:27302369|PMID:27498913|PMID:28135145|PMID:28179481|PMID:28301460|PMID:28492532|PMID:28502729|PMID:28717660|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29212164|PMID:29367705|PMID:29419868|PMID:29684080|PMID:30267214|PMID:30897307|PMID:31054147|PMID:31069152|PMID:31159747|PMID:31269945|PMID:31422818|PMID:31942411|PMID:32547938|PMID:32590455|PMID:32980694|PMID:33294277|PMID:34326862|PMID:34352208|PMID:34479915|PMID:34897210|PMID:35101336|PMID:35534704|PMID:35586626|PMID:36243179|PMID:36315513|PMID:36988593|PMID:38254803|PMID:39932215|PMID:8187091|PMID:8381579|PMID:8395941|PMID:8940264|PMID:9101302|PMID:9585611|PMID:9824584|PMID:9950360
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:736624	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal Cancer | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10077047|PMID:10083733|PMID:10346819|PMID:10470088|PMID:10713886|PMID:10923044|PMID:11001924|PMID:11221825|PMID:11247896|PMID:11317365|PMID:11606402|PMID:11668620|PMID:11741105|PMID:11748858|PMID:11904335|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12173026|PMID:12357334|PMID:1316610|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14616385|PMID:14961559|PMID:14966376|PMID:15108286|PMID:15311282|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16461775|PMID:17064931|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17556698|PMID:17604324|PMID:17963004|PMID:18166348|PMID:18199528|PMID:18433509|PMID:18844223|PMID:18982352|PMID:19029688|PMID:19279422|PMID:19331226|PMID:19531215|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20434453|PMID:20649969|PMID:20685668|PMID:20924072|PMID:21110124|PMID:21153778|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21995949|PMID:22135120|PMID:22431159|PMID:22645652|PMID:22703879|PMID:22722839|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23292937|PMID:23576677|PMID:23725351|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24326041|PMID:24599579|PMID:24728327|PMID:24735542|PMID:24946964|PMID:25085752|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25243319|PMID:25318351|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25741868|PMID:25778705|PMID:25941542|PMID:25980754|PMID:25992589|PMID:26213617|PMID:26300997|PMID:26309368|PMID:26332594|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26976419|PMID:27000756|PMID:27028212|PMID:27081525|PMID:27146957|PMID:27153395|PMID:27302369|PMID:27498913|PMID:27600092|PMID:27621404|PMID:27993330|PMID:28125075|PMID:28135145|PMID:28179481|PMID:28202063|PMID:28283864|PMID:28301460|PMID:28492532|PMID:28502729|PMID:28717660|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29212164|PMID:29371908|PMID:29684080|PMID:29961768|PMID:30267214|PMID:30897307|PMID:31054147|PMID:31062380|PMID:31159747|PMID:31269945|PMID:31278746|PMID:31422818|PMID:31942411|PMID:32123317|PMID:32504335|PMID:32547938|PMID:32590455|PMID:32980694|PMID:33279946|PMID:33294277|PMID:33352971|PMID:34326862|PMID:34352208|PMID:34646395|PMID:34897210|PMID:35101336|PMID:35189564|PMID:35534704|PMID:35586626|PMID:36243179|PMID:36315513|PMID:36988593|PMID:38254803|PMID:39357517|PMID:39932215|PMID:7524601|PMID:7833149|PMID:8187091|PMID:8381579|PMID:8381580|PMID:8395941|PMID:8730280|PMID:8835324|PMID:8940264|PMID:9065402|PMID:9101302|PMID:9342373|PMID:9585611|PMID:9664575|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:736624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal Cancer | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10083733|PMID:10713886|PMID:10923044|PMID:11001924|PMID:11221825|PMID:11247896|PMID:11257105|PMID:11317365|PMID:11748858|PMID:11904335|PMID:11960572|PMID:12034871|PMID:12357334|PMID:12494469|PMID:1316610|PMID:1324223|PMID:14616385|PMID:14961559|PMID:14966376|PMID:15108286|PMID:15311282|PMID:15951963|PMID:16088911|PMID:16461775|PMID:17064931|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17963004|PMID:18199528|PMID:18410690|PMID:18433509|PMID:18844223|PMID:18982352|PMID:19331226|PMID:19531215|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21153778|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22431159|PMID:22703879|PMID:22722839|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23576677|PMID:23725351|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24728327|PMID:24946964|PMID:25085752|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25243319|PMID:25318351|PMID:25479140|PMID:25559809|PMID:25590978|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25992589|PMID:26213617|PMID:26309368|PMID:26332594|PMID:26467025|PMID:26493165|PMID:26510091|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27081525|PMID:27150160|PMID:27302369|PMID:27498913|PMID:27600092|PMID:27621404|PMID:27852271|PMID:28125075|PMID:28135145|PMID:28179481|PMID:28202063|PMID:28283864|PMID:28492532|PMID:28502729|PMID:28526081|PMID:28717660|PMID:28805986|PMID:28828701|PMID:28873162|PMID:28944238|PMID:29192238|PMID:29641532|PMID:29684080|PMID:29887214|PMID:30267214|PMID:30458888|PMID:30897307|PMID:31159747|PMID:31175917|PMID:31269945|PMID:31285513|PMID:31422818|PMID:31613886|PMID:31854063|PMID:31942411|PMID:32547938|PMID:32980694|PMID:33020649|PMID:33294277|PMID:33309985|PMID:34250417|PMID:34326862|PMID:34352208|PMID:34426522|PMID:34666312|PMID:34707284|PMID:34897210|PMID:35101336|PMID:35189564|PMID:35264596|PMID:35430768|PMID:35586626|PMID:36243179|PMID:36315513|PMID:36672847|PMID:36896836|PMID:36988593|PMID:38254803|PMID:39357517|PMID:39932215|PMID:8187091|PMID:8381579|PMID:8395941|PMID:8940264|PMID:9101302|PMID:9585611|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:25741868|PMID:26845104|PMID:27081525|PMID:28492532|PMID:8381579|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9409	diabetes insipidus		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:27081525|PMID:28492532|PMID:8381579|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:27081525|PMID:28492532|PMID:8381579|PMID:9824584
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9834	hyperopia		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:10713886|PMID:11001924|PMID:11317365|PMID:11748858|PMID:16461775|PMID:17411426|PMID:17963004|PMID:19531215|PMID:20223039|PMID:20685668|PMID:23159591|PMID:25559809|PMID:25590978|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33294277|PMID:9585611
8829829	Apc	APC regulator of WNT signaling pathway	gene	DOID:9970	obesity		ISO	RGD:736624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:27081525|PMID:28492532|PMID:8381579|PMID:9824584
8829873	Znf639	zinc finger protein 639	gene	DOID:0060058	lymphoma		ISO	RGD:1353900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8829873	Znf639	zinc finger protein 639	gene	DOID:1909	melanoma		ISO	RGD:1353900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8829873	Znf639	zinc finger protein 639	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829884	Esrp2	epithelial splicing regulatory protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8829884	Esrp2	epithelial splicing regulatory protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8829884	Esrp2	epithelial splicing regulatory protein 2	gene	DOID:0080600	COVID-19		ISO	RGD:1605047	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8829884	Esrp2	epithelial splicing regulatory protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8829884	Esrp2	epithelial splicing regulatory protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605047	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8829884	Esrp2	epithelial splicing regulatory protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829884	Esrp2	epithelial splicing regulatory protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829884	Esrp2	epithelial splicing regulatory protein 2	gene	DOID:9296	cleft lip		ISO	RGD:1605047	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate	
8829910	Ankrd55	ankyrin repeat domain 55	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8829910	Ankrd55	ankyrin repeat domain 55	gene	DOID:0060058	lymphoma		ISO	RGD:1605952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8829910	Ankrd55	ankyrin repeat domain 55	gene	DOID:10534	stomach cancer		ISO	RGD:1605952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8829910	Ankrd55	ankyrin repeat domain 55	gene	DOID:1909	melanoma		ISO	RGD:1605952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8829910	Ankrd55	ankyrin repeat domain 55	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829910	Ankrd55	ankyrin repeat domain 55	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8829910	Ankrd55	ankyrin repeat domain 55	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8829910	Ankrd55	ankyrin repeat domain 55	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1605952	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143596
8829910	Ankrd55	ankyrin repeat domain 55	gene	DOID:9001341	Chloracne		ISO	RGD:1605952	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
8829910	Ankrd55	ankyrin repeat domain 55	gene	DOID:9003566	Mesothelioma		ISO	RGD:1605952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8829910	Ankrd55	ankyrin repeat domain 55	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605952	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8829910	Ankrd55	ankyrin repeat domain 55	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8829933	St3gal6	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	gene	DOID:1115	sarcoma		ISO	RGD:1349452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8829933	St3gal6	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	gene	DOID:1324	lung cancer		ISO	RGD:1349452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8829933	St3gal6	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	gene	DOID:1909	melanoma		ISO	RGD:1349452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8829933	St3gal6	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829933	St3gal6	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829933	St3gal6	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8829949	Tomm34	translocase of outer mitochondrial membrane 34	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8829949	Tomm34	translocase of outer mitochondrial membrane 34	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8829949	Tomm34	translocase of outer mitochondrial membrane 34	gene	DOID:1115	sarcoma		ISO	RGD:1319142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8829949	Tomm34	translocase of outer mitochondrial membrane 34	gene	DOID:1324	lung cancer		ISO	RGD:1319142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8829949	Tomm34	translocase of outer mitochondrial membrane 34	gene	DOID:4362	cervical cancer		ISO	RGD:1319142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8829949	Tomm34	translocase of outer mitochondrial membrane 34	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8829949	Tomm34	translocase of outer mitochondrial membrane 34	gene	DOID:9003566	Mesothelioma		ISO	RGD:1319142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8829960	Klf16	KLF transcription factor 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829960	Klf16	KLF transcription factor 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:0050699	Dent disease		ISO	RGD:1350136	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Dent disease	PMID:15108291|PMID:21031565|PMID:21971085|PMID:27398910|PMID:29300302
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:25741868|PMID:28492532
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:25741868
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:0060321	umbilical hernia		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:21031565|PMID:22381590|PMID:25480730|PMID:25741868|PMID:28492532
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:0060699	familial hypocalciuric hypercalcemia		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis	PMID:25741868|PMID:28492532|PMID:29300302
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:0061038	autosomal dominant intellectual developmental disorder 65		ISO	RGD:1350136	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 65	PMID:29758562
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:0080600	COVID-19		ISO	RGD:1350136	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:0080833	laryngomalacia		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:19390221|PMID:21031565|PMID:22381590|PMID:25741868|PMID:28492532|PMID:9199559
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:0081337	congenital myopathy		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:25741868|PMID:28492532
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:0081454	Dent disease 2		ISO	RGD:1350136	D	RGD:7240710	20180130	OMIM			
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:0081454	Dent disease 2		ISO	RGD:1350136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DENT DISEASE 2 | ClinVar Annotator: match by term: Dent disease type 2	PMID:1321346|PMID:15627218|PMID:16381338|PMID:17162149|PMID:17384968|PMID:17576681|PMID:19390221|PMID:21031565|PMID:22381590|PMID:24081861|PMID:25480730|PMID:25525159|PMID:25741868|PMID:27625797|PMID:27708066|PMID:28018608|PMID:28492532|PMID:28803024|PMID:31674016|PMID:34680992|PMID:38557732|PMID:38589698|PMID:40794449|PMID:8504307|PMID:9536098
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:0111265	Boucher-Neuhauser syndrome		ISO	RGD:1350136	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism	PMID:16381338|PMID:25480730|PMID:25741868|PMID:28492532|PMID:28803024
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aganglionic megacolon	PMID:19390221|PMID:21031565|PMID:22381590|PMID:25741868|PMID:28492532|PMID:9199559
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:1056	oculocerebrorenal syndrome		ISO	RGD:1350136	D	RGD:7240710	20180130	OMIM			
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:1056	oculocerebrorenal syndrome		ISO	RGD:1350136	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: LOWE OCULOCEREBRORENAL SYNDROME | ClinVar Annotator: match by term: Lowe oculocerebrorenal syndrome | ClinVar Annotator: match by term: Lowe syndrome | ClinVar Annotator: match by term: Oculocerebrorenal Syndrome | ClinVar Annotator: match by term: Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency	PMID:10364518|PMID:10767176|PMID:10923037|PMID:11149618|PMID:14981612|PMID:15627218|PMID:16199547|PMID:16381338|PMID:17162149|PMID:17384968|PMID:17576681|PMID:17765681|PMID:18480301|PMID:18500547|PMID:19390221|PMID:19795375|PMID:19902262|PMID:20301653|PMID:21031565|PMID:21225285|PMID:21233288|PMID:21448331|PMID:21666675|PMID:22381590|PMID:23947751|PMID:24081861|PMID:25271213|PMID:25305077|PMID:25480730|PMID:25525159|PMID:25741868|PMID:27059748|PMID:27708066|PMID:28492532|PMID:28669993|PMID:28803024|PMID:28973083|PMID:29300302|PMID:30773290|PMID:31672324|PMID:31674016|PMID:33139981|PMID:33194915|PMID:33517444|PMID:34680992|PMID:35183220|PMID:35919034|PMID:36685964|PMID:38002082|PMID:38557732|PMID:38589698|PMID:38726999|PMID:39582457|PMID:40133227|PMID:40794449|PMID:8504307|PMID:9199559|PMID:9536098|PMID:9632163|PMID:9788721
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:1059	intellectual disability		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:21031565|PMID:22381590|PMID:25480730|PMID:25741868|PMID:28492532
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:10609	rickets		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rickets	PMID:25741868
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:10629	microphthalmia		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:21031565|PMID:22381590|PMID:25480730|PMID:25741868|PMID:28492532
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:11383	cryptorchidism		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:21031565|PMID:22381590|PMID:25480730|PMID:25741868|PMID:28492532
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:21031565|PMID:22381590|PMID:25480730|PMID:25741868|PMID:28492532
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:4362	cervical cancer		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:767	muscular atrophy		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25741868|PMID:28492532
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:783	end stage renal disease		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:19390221|PMID:21031565|PMID:22381590|PMID:25480730|PMID:25741868|PMID:28492532
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:83	cataract		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:21031565|PMID:22381590|PMID:25480730|PMID:25741868|PMID:28492532
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:9000445	Azotemia		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Azotemia	PMID:19390221|PMID:21031565|PMID:22381590|PMID:25480730|PMID:25741868|PMID:28492532
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:9000586	Vocal Cord Paralysis		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unilateral vocal cord paresis	PMID:19390221|PMID:21031565|PMID:22381590|PMID:25741868|PMID:28492532|PMID:9199559
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:9001510	Funnel Chest		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:9001738	Hypercalciuria		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercalciuria	PMID:25741868
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	PMID:25741868
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:28492532
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Generalized hypotonia	PMID:21031565|PMID:22381590|PMID:25480730|PMID:25741868|PMID:28492532
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:16381338|PMID:25480730|PMID:25741868|PMID:28492532|PMID:28803024
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:25741868|PMID:28492532
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:9007661	Dwarfism		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:21031565|PMID:22381590|PMID:25480730|PMID:25741868|PMID:28492532
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19390221|PMID:21031565|PMID:22381590|PMID:25480730|PMID:25741868|PMID:28492532|PMID:9199559
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868|PMID:28492532
8829966	Ocrl	OCRL inositol polyphosphate-5-phosphatase	gene	DOID:9256	colorectal cancer		ISO	RGD:1350136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8829995	Batf3	basic leucine zipper ATF-like transcription factor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8829995	Batf3	basic leucine zipper ATF-like transcription factor 3	gene	DOID:0060058	lymphoma		ISO	RGD:1602111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8829995	Batf3	basic leucine zipper ATF-like transcription factor 3	gene	DOID:1024	leprosy		ISO	RGD:1602111	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25642632
8829995	Batf3	basic leucine zipper ATF-like transcription factor 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1602111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8829995	Batf3	basic leucine zipper ATF-like transcription factor 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8829995	Batf3	basic leucine zipper ATF-like transcription factor 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1602111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8829995	Batf3	basic leucine zipper ATF-like transcription factor 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1602111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8829995	Batf3	basic leucine zipper ATF-like transcription factor 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8829995	Batf3	basic leucine zipper ATF-like transcription factor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8829995	Batf3	basic leucine zipper ATF-like transcription factor 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8829995	Batf3	basic leucine zipper ATF-like transcription factor 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8829995	Batf3	basic leucine zipper ATF-like transcription factor 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1602111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8830000	Fbxo33	F-box protein 33	gene	DOID:10534	stomach cancer		ISO	RGD:1316797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8830000	Fbxo33	F-box protein 33	gene	DOID:1324	lung cancer		ISO	RGD:1316797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8830000	Fbxo33	F-box protein 33	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8830000	Fbxo33	F-box protein 33	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8830000	Fbxo33	F-box protein 33	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8830000	Fbxo33	F-box protein 33	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8830000	Fbxo33	F-box protein 33	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8830009	Col26a1	collagen type XXVI alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8830009	Col26a1	collagen type XXVI alpha 1 chain	gene	DOID:3275	thymoma		ISO	RGD:1345849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8830009	Col26a1	collagen type XXVI alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1345849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8830009	Col26a1	collagen type XXVI alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830009	Col26a1	collagen type XXVI alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8830009	Col26a1	collagen type XXVI alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8830029	Commd5	COMM domain containing 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8830029	Commd5	COMM domain containing 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8830044	Fgf16	fibroblast growth factor 16	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:733065	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
8830044	Fgf16	fibroblast growth factor 16	gene	DOID:0111813	syndactyly type 8		ISO	RGD:733065	D	RGD:7240710	20180130	OMIM			
8830044	Fgf16	fibroblast growth factor 16	gene	DOID:0111813	syndactyly type 8		ISO	RGD:733065	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: METACARPAL 4-5 FUSION | ClinVar Annotator: match by term: Syndactyly type 8	
8830044	Fgf16	fibroblast growth factor 16	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:733065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8830051	Nxnl2	nucleoredoxin like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8830051	Nxnl2	nucleoredoxin like 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1351751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8830051	Nxnl2	nucleoredoxin like 2	gene	DOID:3275	thymoma		ISO	RGD:1351751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8830051	Nxnl2	nucleoredoxin like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830051	Nxnl2	nucleoredoxin like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8830051	Nxnl2	nucleoredoxin like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:0070452	xanthinuria type I		ISO	RGD:737503	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hereditary xanthinuria type 1	
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:0112177	Mayer-Rokitansky-Kuster-Hauser syndrome		ISO	RGD:737503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aplasia of the uterus	PMID:10718838|PMID:10999800|PMID:14594182|PMID:1522235|PMID:18097518|PMID:18717241|PMID:19492581|PMID:20019388|PMID:20190539|PMID:20493473|PMID:20583543|PMID:23329752|PMID:25741868|PMID:25899528|PMID:26446026|PMID:2665940|PMID:26980298|PMID:27854360|PMID:28492532|PMID:30695888|PMID:32567554|PMID:35154247|PMID:35700942|PMID:36617173|PMID:8262007
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:10283	prostate cancer		ISO	RGD:737503	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:prostate gland	PMID:12949937|REF_RGD_ID:2302560
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:737503	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.A49T (human)	PMID:10501358|REF_RGD_ID:4891929
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:10534	stomach cancer		ISO	RGD:737503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:10892	hypospadias		ISO	RGD:737503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868|PMID:28492532|PMID:31031332|PMID:35386187
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:10892	hypospadias	susceptibility	ISO	RGD:737503	D	RGD:9068941	20200609	RGD		protein:missense mutations:cds:p.R227Q, p.F186L (human)	PMID:10514539|REF_RGD_ID:1600059
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:10907	microcephaly		ISO	RGD:737503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:1406794|PMID:16199547|PMID:1944596|PMID:21147889|PMID:25741868|PMID:28492532|PMID:28938747
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:11132	prostatic hypertrophy		ISO	RGD:737503	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20823678
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:11383	cryptorchidism		ISO	RGD:737503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:12700	hyperprolactinemia		ISO	RGD:621480	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate (rat)	PMID:18379994|REF_RGD_ID:4891877
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:13938	amenorrhea		ISO	RGD:737503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:10718838|PMID:10999800|PMID:14594182|PMID:1522235|PMID:18097518|PMID:18717241|PMID:19492581|PMID:20019388|PMID:20190539|PMID:20493473|PMID:20583543|PMID:23329752|PMID:25741868|PMID:25899528|PMID:26446026|PMID:2665940|PMID:26980298|PMID:27854360|PMID:28492532|PMID:30695888|PMID:32567554|PMID:35154247|PMID:35700942|PMID:36617173|PMID:8262007
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:1923	disorder of sexual development		ISO	RGD:737503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia	PMID:10718838|PMID:14594182|PMID:1522235|PMID:18097518|PMID:18717241|PMID:19492581|PMID:20190539|PMID:20493473|PMID:20583543|PMID:23329752|PMID:25741868|PMID:25899528|PMID:26446026|PMID:2665940|PMID:26980298|PMID:27854360|PMID:28492532
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:1924	hypogonadism		ISO	RGD:737503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypergonadotropic hypogonadism	PMID:12699446|PMID:16181229|PMID:17609295|PMID:21147889|PMID:25266188|PMID:25741868|PMID:27070133|PMID:28492532|PMID:8110760
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:289	endometriosis		ISO	RGD:737503	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21232532
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:3459	breast carcinoma		ISO	RGD:737503	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:15212687|REF_RGD_ID:2302558
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:630	genetic disease		ISO	RGD:737503	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:9001561	Pseudovaginal Perineoscrotal Hypospadias		ISO	RGD:737503	D	RGD:7240710	20180130	OMIM			
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:9001561	Pseudovaginal Perineoscrotal Hypospadias		ISO	RGD:737503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2 | ClinVar Annotator: match by term: PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS | ClinVar Annotator: match by term: Steroid 5-alpha-reductase deficiency	PMID:10564874|PMID:10718838|PMID:10999800|PMID:1147889|PMID:12008688|PMID:12576851|PMID:12699446|PMID:12843198|PMID:1406794|PMID:14594182|PMID:1522235|PMID:15266301|PMID:15528927|PMID:15770495|PMID:16181229|PMID:16199547|PMID:17576681|PMID:17609295|PMID:18097518|PMID:18314109|PMID:18350250|PMID:18384427|PMID:18391525|PMID:18717241|PMID:19342739|PMID:1944596|PMID:19492581|PMID:20019388|PMID:20190539|PMID:20493473|PMID:20583543|PMID:20736251|PMID:20850730|PMID:21147889|PMID:21402750|PMID:2154055|PMID:21540559|PMID:21631525|PMID:21714467|PMID:22272144|PMID:22362597|PMID:22435390|PMID:22453073|PMID:23329752|PMID:23633205|PMID:24665940|PMID:24737579|PMID:24885102|PMID:25248670|PMID:25266188|PMID:25741868|PMID:25899528|PMID:26446026|PMID:2665940|PMID:26980298|PMID:27070133|PMID:27086719|PMID:27717089|PMID:27854360|PMID:27899157|PMID:28110336|PMID:28492532|PMID:28544750|PMID:28663096|PMID:28938747|PMID:29582157|PMID:29798939|PMID:30132287|PMID:30269266|PMID:30668521|PMID:30695888|PMID:30889611|PMID:30968598|PMID:31031332|PMID:31130284|PMID:31186340|PMID:31219235|PMID:31885560|PMID:31942420|PMID:32346305|PMID:32371413|PMID:32380235|PMID:32567554|PMID:32596280|PMID:32669180|PMID:32713132|PMID:32894851|PMID:33516834|PMID:33742552|PMID:33775494|PMID:35154247|PMID:35331321|PMID:35386187|PMID:35488637|PMID:35700942|PMID:35793650|PMID:36606580|PMID:36617173|PMID:37918676|PMID:39285472|PMID:39314038|PMID:4028464|PMID:755047|PMID:7608269|PMID:8110760|PMID:8262007|PMID:835597|PMID:8626825|PMID:8706317|PMID:8723114|PMID:8768837|PMID:8784107|PMID:9066886|PMID:9135696|PMID:9208814|PMID:9536098|PMID:9745434|PMID:9843052
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737503	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16998812|PMID:17136762|PMID:17823934|PMID:18306354|PMID:18500220
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:9003503	Penis Agenesis		ISO	RGD:737503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MICROPENIS | ClinVar Annotator: match by term: Micropenis	PMID:10898110|PMID:12843198|PMID:14594182|PMID:15064320|PMID:19342739|PMID:20736251|PMID:22453073|PMID:25605705|PMID:25741868|PMID:25899528|PMID:28492532|PMID:31031332|PMID:32713132|PMID:35386187|PMID:8784107
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:737503	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23200943
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:9296	cleft lip		ISO	RGD:737503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:1406794|PMID:16199547|PMID:1944596|PMID:21147889|PMID:25741868|PMID:28492532|PMID:28938747
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:9351	diabetes mellitus		ISO	RGD:621480	D	RGD:9068941	20200609	RGD			PMID:12749121|REF_RGD_ID:1600067
8830058	Srd5a2	steroid 5 alpha-reductase 2	gene	DOID:987	alopecia		ISO	RGD:737503	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17136762
8830067	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8830067	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:0060058	lymphoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8830067	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:10534	stomach cancer		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8830067	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8830067	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8830067	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:1324	lung cancer		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8830067	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:1909	melanoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8830067	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:3275	thymoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8830067	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8830067	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1318707	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8830067	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830067	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8830067	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8830067	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:9008448	YUKSEL-VOGEL-BAUER SYNDROME		ISO	RGD:1318707	D	RGD:7240710	20240327	OMIM			
8830067	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:9008448	YUKSEL-VOGEL-BAUER SYNDROME		ISO	RGD:1318707	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DLG5-related disorder | ClinVar Annotator: match by term: YUKSEL-VOGEL-BAUER SYNDROME	
8830067	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8830067	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8830119	Scg2	secretogranin II	gene	DOID:1324	lung cancer		ISO	RGD:734327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8830130	Ndufs5	NADH:ubiquinone oxidoreductase subunit S5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8830130	Ndufs5	NADH:ubiquinone oxidoreductase subunit S5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830130	Ndufs5	NADH:ubiquinone oxidoreductase subunit S5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8830164	Twf1	twinfilin actin binding protein 1	gene	DOID:0060058	lymphoma		ISO	RGD:1323555	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19783987
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16081686
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:733100	D	RGD:9068941	20220825	RGD		protein:increased expression:tongue (human)	PMID:26581505|REF_RGD_ID:11535375
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:0050873	follicular lymphoma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12855623|PMID:3287162
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:0050873	follicular lymphoma		ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:3287162|REF_RGD_ID:734639
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:0050873	follicular lymphoma	susceptibility	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		DNA:translocation: ;t(14;18)(q32;q21)	PMID:16671111|REF_RGD_ID:1599473
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26239085|PMID:3287162
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:0060074	ductal carcinoma in situ	disease_progression	ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:12628841|REF_RGD_ID:2289659
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:0060108	brain glioma	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:27255231|PMID:29324390|REF_RGD_ID:13792502|REF_RGD_ID:13792598
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:0111142	oligomeganephronia		ISO	RGD:10230	D	RGD:9068941	20220825	MouseDO			
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:10283	prostate cancer		ISO	RGD:733100	D	RGD:9068941	20201023	RGD			PMID:16984224|PMID:18084610|REF_RGD_ID:2292512|REF_RGD_ID:2293015
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:17850375|REF_RGD_ID:2293017
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:733100	D	RGD:9068941	20210611	RGD		human cells in mouse model	PMID:29408335|REF_RGD_ID:127284846
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:10652	Alzheimer's disease		ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:16265626|PMID:17639989|REF_RGD_ID:10054047|REF_RGD_ID:2293073
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18077176
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733100	D	RGD:9068941	20200609	RGD		protein:increased expression:temporal cortex, membrane	PMID:9507158|REF_RGD_ID:10053642
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:21585051|PMID:26897372|PMID:29587274|PMID:29777699|REF_RGD_ID:10054049|REF_RGD_ID:11522767|REF_RGD_ID:13782186|REF_RGD_ID:13782188
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:10763	hypertension		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10075388
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:10763	hypertension	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:20065158|REF_RGD_ID:10053702
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:10808	gastric ulcer	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:24378970|REF_RGD_ID:10053695
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:10941	intracranial aneurysm	treatment	ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:25316629|REF_RGD_ID:11522723
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733100	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:18094410|REF_RGD_ID:2293014
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733100	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:36115647
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:11054	urinary bladder cancer	severity	ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:18342927|REF_RGD_ID:2292910
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:11476	osteoporosis	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:22648569|REF_RGD_ID:10054093
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:21062263|REF_RGD_ID:10054496
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21062263
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:decreased expression:cardiomyocyte	PMID:25820375|REF_RGD_ID:13792650
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:733100	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart	PMID:25209900|REF_RGD_ID:11558015
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:12336	male infertility		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24723216
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:127	leiomyoma		ISO	RGD:733100	D	RGD:9068941	20200609	RGD		protein:increased expression:myometrium	PMID:16962107|REF_RGD_ID:1643479
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:127	leiomyoma	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:23789224|REF_RGD_ID:10054112
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:12849	autistic disorder		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11814262|PMID:20375269
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:12858	Huntington's disease		ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:11299004|REF_RGD_ID:10054041
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:26004897|REF_RGD_ID:13782348
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:1307	dementia	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:21473886|REF_RGD_ID:10054040
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23274713
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:14221	abdominal obesity-metabolic syndrome 1	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:27131981|REF_RGD_ID:13792503
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:14227	azoospermia		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20610805
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:733100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:29020630|PMID:35101336|PMID:37475138
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:1686	glaucoma		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:optic nerve, retina	PMID:24357921|REF_RGD_ID:10054098
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:1749	squamous cell carcinoma	disease_progression	ISO	RGD:2199	D	RGD:9068941	20200609	RGD		Protein:increased expression:tongue;associated with mouth neoplasms	PMID:16309543|REF_RGD_ID:1599477
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:1790	malignant mesothelioma		ISO	RGD:733100	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:16850164
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:1824	status epilepticus		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus	PMID:18076646|REF_RGD_ID:2293065
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:1824	status epilepticus	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:22842798|REF_RGD_ID:11522734
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:1875	impotence		ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:12394778|REF_RGD_ID:1579980
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:1875	impotence		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12394778
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:1875	impotence	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21235725|REF_RGD_ID:10053666
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:1909	melanoma	severity	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		protein:increased expression:lymph node (human)	PMID:8783649|REF_RGD_ID:11526106
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:1936	atherosclerosis		ISO	RGD:2199	D	RGD:9068941	20230615	RGD		associated with type 2 diabetes mellitus; mRNA, protein:increased expression:thoracic aorta (rat)	PMID:33889291|REF_RGD_ID:329849122
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:2055	post-traumatic stress disorder		ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:23381833|REF_RGD_ID:10054113
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:219	colon cancer	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:21214291|REF_RGD_ID:10053668
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:224	transient cerebral ischemia		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:18083315|REF_RGD_ID:2290557
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:224	transient cerebral ischemia		ISO	RGD:2199	D	RGD:9068941	20250130	RGD		protein:increased expression:hippocampus:	PMID:26607632|REF_RGD_ID:597538583
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17954590
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:2316	brain ischemia	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:15585409|REF_RGD_ID:11522731
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:234	colon adenocarcinoma	treatment	ISO	RGD:733100	D	RGD:9068941	20210528	RGD		human cells in mouse model	PMID:32504672|REF_RGD_ID:125097526
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:2560	morphine dependence	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:24906198|REF_RGD_ID:10054248
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:18047955|REF_RGD_ID:1643477
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:decreased expression:platelet (rat)	PMID:26459859|REF_RGD_ID:11522763
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:2773	contact dermatitis		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:2841	asthma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18357729
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:289	endometriosis		ISO	RGD:733100	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:17693084|REF_RGD_ID:2293018
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:289	endometriosis	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:23406865|PMID:25937801|REF_RGD_ID:11353846|REF_RGD_ID:7257718
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:299	adenocarcinoma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472143
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:3021	acute kidney failure		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:20037173|REF_RGD_ID:10053672
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:305	carcinoma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10426811
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:3070	high grade glioma		ISO	RGD:733100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:3234	central nervous system lymphoma		ISO	RGD:733100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary central nervous system lymphoma	PMID:27993330
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:332	amyotrophic lateral sclerosis	disease_progression	ISO	RGD:10230	D	RGD:9068941	20200609	RGD			PMID:10582606|REF_RGD_ID:13506907
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:23143152|REF_RGD_ID:10054501
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:3721	plasmacytoma	susceptibility	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:14695177|REF_RGD_ID:11526108
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:4450	renal cell carcinoma		ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:18283311|REF_RGD_ID:2298896
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:17482919|REF_RGD_ID:2293019
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:4468	clear cell adenocarcinoma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9754764
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:4481	allergic rhinitis		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:nasal mucosa (rat)	PMID:15362690|REF_RGD_ID:11522724
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:4545	mesenchymal chondrosarcoma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12817616
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:kidney	PMID:12234300|REF_RGD_ID:1579984
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:4914	esophagus adenocarcinoma	onset	ISO	RGD:733100	D	RGD:9068941	20210521	RGD		DNA:SNPs:3'utr: (rs720321, rs17757541) (human)	PMID:21472143|REF_RGD_ID:126925218
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:5295	intestinal disease	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:24228095|REF_RGD_ID:10058972
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:5409	lung small cell carcinoma	susceptibility	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2279115(human)	PMID:26311051|REF_RGD_ID:13673911
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:5485	synovial sarcoma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16450387
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23471820
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:5844	myocardial infarction		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19027736
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:18097624|PMID:29746994|REF_RGD_ID:10054097|REF_RGD_ID:13792577
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:6432	pulmonary hypertension		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart right ventricle	PMID:18441466|REF_RGD_ID:2293022
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:657	adenoma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10223192|PMID:10426811
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:10230	D	RGD:9068941	20210702	RGD		mRNA:increased expression:liver (mouse)	PMID:28100771|REF_RGD_ID:127285675
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:2199	D	RGD:9068941	20220714	RGD			PMID:33841550|REF_RGD_ID:152998960
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:783	end stage renal disease	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:20424483|REF_RGD_ID:11522730
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:8398	osteoarthritis		ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:19217321|REF_RGD_ID:10053643
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:8398	osteoarthritis		ISO	RGD:733100	D	RGD:9068941	20200609	RGD		protein:increased expression:chondrocyte	PMID:16864079|REF_RGD_ID:10054095
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:8466	retinal degeneration		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:increased expression:retina (rat)	PMID:24166353|REF_RGD_ID:11522757
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:8466	retinal degeneration		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:8692941
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:8466	retinal degeneration	treatment	ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:10704489|REF_RGD_ID:8554863
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:8927	learning disability		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17967740
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:8991	cervix uteri carcinoma in situ	disease_progression	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:18561741|REF_RGD_ID:2298889
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16904648
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:27256506|REF_RGD_ID:13792677
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:733100	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;protein:increased expression:lymph node	PMID:18217456|REF_RGD_ID:2293013
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:2199	D	RGD:9068941	20220623	RGD			PMID:29572553|REF_RGD_ID:152995414
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472143
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9000156	Metaplasia		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12704018
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9000288	Chronic Intermittent Hypoxia	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:26769958|REF_RGD_ID:13792505
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9000310	Lung Injury	disease_progression	ISO	RGD:2199	D	RGD:9068941	20241031	RGD		associated with Intestinal Reperfusion Injury	PMID:17786556|REF_RGD_ID:408346753
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9000918	Disease Progression		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16081686|PMID:21750559
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:733100	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms	PMID:16826579|REF_RGD_ID:2293020
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:733100	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Renal Cell	PMID:12810203|REF_RGD_ID:2293021
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9000998	Brain Injuries		ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:18093155|REF_RGD_ID:2293059
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9000998	Brain Injuries	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:20888848|REF_RGD_ID:10054247
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9001390	Testis Reperfusion Injury		ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:26754107|REF_RGD_ID:11555349
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:17938867|REF_RGD_ID:2293129
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:24218972|REF_RGD_ID:10054116
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10426811|PMID:28100771
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA:increased expression:intestine	PMID:17693937|REF_RGD_ID:2293072
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9001725	Retina Reperfusion Injury	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:25535961|REF_RGD_ID:11522737
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:10230	D	RGD:9068941	20230525	RGD			PMID:34144219|REF_RGD_ID:329812011
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:21092002|REF_RGD_ID:5134995
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD		associated with Non-alcoholic Fatty Liver Disease	PMID:22847887|REF_RGD_ID:10053710
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21750559|PMID:23770605
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	no_association	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-938C>A (human)	PMID:17959858|REF_RGD_ID:11526105
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	severity	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-938C>A (human)	PMID:16960146|REF_RGD_ID:11526104
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	severity	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		protein:increased expression:B cell (human)	PMID:20001236|REF_RGD_ID:11526110
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	treatment	ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:17296974|REF_RGD_ID:11522735
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002231	Fetal Growth Retardation	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:22932950|REF_RGD_ID:10054114
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002245	Intestinal Neoplasms		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10223192
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002283	Experimental Allergic Asthma	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:29713367|REF_RGD_ID:13792581
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:10230	D	RGD:9068941	20200609	RGD			PMID:18317887|REF_RGD_ID:2291908
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16733517
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002331	Knee Osteoarthritis	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:20131282|REF_RGD_ID:6907382
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002395	Hypothermia		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate gland ventral lobe (rat)	PMID:25996932|REF_RGD_ID:10402397
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:21199477|REF_RGD_ID:10054249
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:22978269|REF_RGD_ID:10054498
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002644	Premature Aging	treatment	ISO	RGD:10230	D	RGD:9068941	20200609	RGD			PMID:21359432|REF_RGD_ID:6480478
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12721362
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002762	Ovarian Neoplasms	severity	ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:18006758|REF_RGD_ID:2298897
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002909	Oxygen-Induced Retinopathy	ameliorates	ISO	RGD:10230	D	RGD:9068941	20230525	RGD			PMID:35445044|REF_RGD_ID:329812014
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA:increased expression:colon	PMID:17404573|REF_RGD_ID:2293078
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10223192|PMID:17404573|PMID:19147571
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:11146106|PMID:17967740
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9003676	Brain Hypoxia-Ischemia	treatment	ISO	RGD:2199	D	RGD:9068941	20230128	RGD			PMID:21189961|PMID:24089674|PMID:29635023|REF_RGD_ID:10054502|REF_RGD_ID:13782292|REF_RGD_ID:155882465
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15449323
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9004038	Kashin-Beck Disease		ISO	RGD:733100	D	RGD:9068941	20200609	RGD		protein:increased expression:articular cartilage, chondrocyte	PMID:16511931|REF_RGD_ID:10054094
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:2199	D	RGD:9068941	20241010	RGD			PMID:31828147|REF_RGD_ID:35316072
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		associated with Endotoxemia	PMID:20663300|REF_RGD_ID:10054109
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:2199	D	RGD:9068941	20260409	RGD		associated with burns	PMID:22360954|PMID:22455798|REF_RGD_ID:645122548|REF_RGD_ID:645122549
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9005181	Multi-Infarct Dementia	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:18938189|REF_RGD_ID:10054050
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:22668016|PMID:23404339|REF_RGD_ID:10053670|REF_RGD_ID:10054128
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9005562	AIDS-Related Kaposi Sarcoma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10861090
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:embryo	PMID:15649569|REF_RGD_ID:1599491
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:18991018|REF_RGD_ID:2311240
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16959961|PMID:23090186
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9005749	Necrosis		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11781163|PMID:16532269
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:increased expression:tongue:	PMID:12167434|REF_RGD_ID:8547871
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9005930	Endotoxemia		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:diaphragm	PMID:23940949|REF_RGD_ID:10054120
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9006169	Head and Neck Neoplasms		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18566236
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:18221257|REF_RGD_ID:2293026
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:29285062|REF_RGD_ID:13792599
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:2199	D	RGD:9068941	20250313	RGD			PMID:33574912|REF_RGD_ID:597830178
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9006827	Lung Reperfusion Injury	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:23953793|REF_RGD_ID:10054119
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9006928	Viral Bronchiolitis	severity	ISO	RGD:733100	D	RGD:9068941	20201218	RGD		protein:increased expression:natural killer cell, T cell (human)	PMID:26541527|REF_RGD_ID:40902860
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:10230	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased phosphorylation:myocardium (mouse)	PMID:21474815|REF_RGD_ID:11522727
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9006945	Diabetic Cardiomyopathies	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21296063|REF_RGD_ID:10053697
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9007102	Myocardial Ischemia	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:22014268|REF_RGD_ID:10054500
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9007174	Ventricular Remodeling	ameliorates	ISO	RGD:10230	D	RGD:9068941	20230406	RGD		associated with myocardial infarction	PMID:25726944|REF_RGD_ID:11252030
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9007429	Soft Tissue Neoplasms		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16450387
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22666341|PMID:2543982|PMID:2848196
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9007715	Endometrial Neoplasms	severity	ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:18386458|REF_RGD_ID:2298890
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9007730	Burns	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:22153006|REF_RGD_ID:10054126
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:16289365|REF_RGD_ID:1599484
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:2199	D	RGD:9068941	20220923	RGD			PMID:20821058|PMID:23364609|PMID:31583047|REF_RGD_ID:10053674|REF_RGD_ID:11561911|REF_RGD_ID:155230831
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9008023	Memory Disorders		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17967740
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:optic nerve, retina	PMID:24357921|REF_RGD_ID:10054098
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18949393
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9008622	Adrenal Insufficiency		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		associated with Pancreatitis, Acute Necrotizing;protein:decreased expression:adrenal cortex	PMID:21161352|REF_RGD_ID:6482719
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9008824	Sarcopenia		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:plantaris	PMID:17029665|REF_RGD_ID:2325745
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12517783|PMID:16954440|PMID:23621182
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733100	D	RGD:9068941	20200609	RGD		associated with Papillomavirus Infections;protein:increased expression:breast	PMID:18427947|REF_RGD_ID:2292909
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-938C>A	PMID:17908970|REF_RGD_ID:2293016
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:18430249|REF_RGD_ID:2292908
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9119	acute myeloid leukemia	severity	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		DNA:snp:exon:c.+21A>G (rs1801018) (human)	PMID:19520430|REF_RGD_ID:11526111
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9119	acute myeloid leukemia	severity	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		ratio with Flt3, Kit;mRNA:decreased expression:mononuclear cell (human)	PMID:25216797|REF_RGD_ID:11526109
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-938C>A (human)	PMID:25957891|REF_RGD_ID:11526107
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9261	nasopharynx carcinoma	disease_progression	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		protein:increased expression:epithelium of nasopharynx (human)	PMID:12099337|REF_RGD_ID:11526103
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9286	priapism		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:increased expression:erectile tissue (rat)	PMID:21085184|REF_RGD_ID:10412315
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:23032698|REF_RGD_ID:10053698
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16959961|PMID:31626838
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9538	multiple myeloma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12429644
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9655	oral mucosa leukoplakia		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:increased expression:tongue:	PMID:12167434|REF_RGD_ID:8547871
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9952	acute lymphoblastic leukemia	severity	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow (human)	PMID:25982455|REF_RGD_ID:11076595
8830182	Bcl2	BCL2 apoptosis regulator	gene	DOID:9970	obesity		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:heart left ventricle	PMID:18202171|REF_RGD_ID:2293027
8830182	Bcl2	BCL2, apoptosis regulator	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:2199	D	RGD:9068941	20260801	RGD			PMID:16732092|REF_RGD_ID:11522725
8830207	Fam193a	family with sequence similarity 193 member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8830207	Fam193a	family with sequence similarity 193 member A	gene	DOID:10534	stomach cancer		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8830207	Fam193a	family with sequence similarity 193 member A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8830207	Fam193a	family with sequence similarity 193 member A	gene	DOID:1115	sarcoma		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8830207	Fam193a	family with sequence similarity 193 member A	gene	DOID:1324	lung cancer		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8830207	Fam193a	family with sequence similarity 193 member A	gene	DOID:1909	melanoma		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8830207	Fam193a	family with sequence similarity 193 member A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8830207	Fam193a	family with sequence similarity 193 member A	gene	DOID:4362	cervical cancer		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8830207	Fam193a	family with sequence similarity 193 member A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8830207	Fam193a	family with sequence similarity 193 member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1320077	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8830207	Fam193a	family with sequence similarity 193 member A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8830207	Fam193a	family with sequence similarity 193 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830207	Fam193a	family with sequence similarity 193 member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8830249	Fbxw2	F-box and WD repeat domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1321373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8830249	Fbxw2	F-box and WD repeat domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1321373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8830249	Fbxw2	F-box and WD repeat domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8830249	Fbxw2	F-box and WD repeat domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8830249	Fbxw2	F-box and WD repeat domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830249	Fbxw2	F-box and WD repeat domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8830249	Fbxw2	F-box and WD repeat domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8830285	Gpbp1l1	GC-rich promoter binding protein 1 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8830285	Gpbp1l1	GC-rich promoter binding protein 1 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8830285	Gpbp1l1	GC-rich promoter binding protein 1 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8830285	Gpbp1l1	GC-rich promoter binding protein 1 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8830285	Gpbp1l1	GC-rich promoter binding protein 1 like 1	gene	DOID:1909	melanoma		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8830285	Gpbp1l1	GC-rich promoter binding protein 1 like 1	gene	DOID:3275	thymoma		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8830285	Gpbp1l1	GC-rich promoter binding protein 1 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8830285	Gpbp1l1	GC-rich promoter binding protein 1 like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605641	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8830285	Gpbp1l1	GC-rich promoter binding protein 1 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830285	Gpbp1l1	GC-rich promoter binding protein 1 like 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605641	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8830285	Gpbp1l1	GC-rich promoter binding protein 1 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8830285	Gpbp1l1	GC-rich promoter binding protein 1 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8830301	Slc39a12	solute carrier family 39 member 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8830301	Slc39a12	solute carrier family 39 member 12	gene	DOID:1115	sarcoma		ISO	RGD:1319582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8830301	Slc39a12	solute carrier family 39 member 12	gene	DOID:1909	melanoma		ISO	RGD:1319582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8830301	Slc39a12	solute carrier family 39 member 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1319582	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8830301	Slc39a12	solute carrier family 39 member 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830301	Slc39a12	solute carrier family 39 member 12	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:1309305	D	RGD:9068941	20200609	RGD			PMID:26258299|REF_RGD_ID:10401832
8830301	Slc39a12	solute carrier family 39 member 12	gene	DOID:9006102	Right Ventricular Hypertrophy	severity	ISO	XCO:0000010	D	RGD:9068941	20201211	RGD			PMID:26258299|REF_RGD_ID:10401832
8830301	Slc39a12	solute carrier family 39 member 12	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced		ISO	RGD:1309305	D	RGD:9068941	20200609	RGD			PMID:26258299|REF_RGD_ID:10401832
8830301	Slc39a12	solute carrier family 39 member 12	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced	severity	ISO	XCO:0000010	D	RGD:9068941	20201211	RGD			PMID:26258299|REF_RGD_ID:10401832
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:0050865	tongue squamous cell carcinoma	disease_progression	ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:12162767|REF_RGD_ID:8662376
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:10873097|REF_RGD_ID:8662371
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:15817070|REF_RGD_ID:8662374
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:0050866	oral squamous cell carcinoma	no_association	ISO	RGD:735341	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :98C>A(human)	PMID:18251939|REF_RGD_ID:8662395
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:0050866	oral squamous cell carcinoma	susceptibility	ISO	RGD:735341	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:149A>G(human)	PMID:10873097|REF_RGD_ID:8662371
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:0060071	pre-malignant neoplasm	treatment	ISO	RGD:69328	D	RGD:9068941	20200609	RGD			PMID:23857431|REF_RGD_ID:10043364
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:0060074	ductal carcinoma in situ	disease_progression	ISO	RGD:735341	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:12628841|REF_RGD_ID:2289659
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:0060224	atrial fibrillation		ISO	RGD:735341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:0060224	atrial fibrillation		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:atriim	PMID:16043935|REF_RGD_ID:8662360
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:732911	D	RGD:9068941	20200609	RGD			PMID:16462758|REF_RGD_ID:8662844
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:20369488|REF_RGD_ID:8547768
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:10283	prostate cancer		ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:18237448|REF_RGD_ID:2289639
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:10534	stomach cancer		ISO	RGD:735341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:1070	primary open angle glaucoma	no_association	ISO	RGD:735341	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.S31R(human)	PMID:15807891|REF_RGD_ID:8661806
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:1070	primary open angle glaucoma	susceptibility	ISO	RGD:735341	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.S31R(human)	PMID:14738489|REF_RGD_ID:8661807
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:1073	renal hypertension		ISO	RGD:69328	D	RGD:9068941	20200609	RGD		protein:decreased expression:vascular associated smooth muscle cell	PMID:17439406|REF_RGD_ID:2289672
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:10964	cholesteatoma of middle ear		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		protein:increased expression:	PMID:23324739|REF_RGD_ID:8661795
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:10966	lipoid nephrosis	treatment	ISO	RGD:69328	D	RGD:9068941	20200609	RGD			PMID:24119646|REF_RGD_ID:10043363
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:35101336
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:11335	sarcoidosis		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin:	PMID:12885947|REF_RGD_ID:8662819
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:11555	Fuchs' endothelial dystrophy		ISO	RGD:732911	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:cornea,nucleus:	PMID:22956607|REF_RGD_ID:8661808
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:11555	Fuchs' endothelial dystrophy		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus:	PMID:22956607|REF_RGD_ID:8661808
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:11727	facioscapulohumeral muscular dystrophy		ISO	RGD:735341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12868502
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		protein:increased expression:epithelial cell:	PMID:18456456|REF_RGD_ID:8662434
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:12689	acoustic neuroma		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:myelinated nerve:	PMID:20600642|REF_RGD_ID:8661792
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:735341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		associated with Varicose Ulcer;protein:increased expression:skin:	PMID:11028856|REF_RGD_ID:8662856
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:1749	squamous cell carcinoma	disease_progression	ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:9655223|REF_RGD_ID:8662356
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:1790	malignant mesothelioma		ISO	RGD:735341	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:11453316
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:1909	melanoma		ISO	RGD:735341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:2615	papilloma		ISO	RGD:732911	D	RGD:9068941	20200609	RGD			PMID:10430900|REF_RGD_ID:8662432
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:2615	papilloma		ISO	RGD:735341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12151359
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:2615	papilloma		ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:11684723|REF_RGD_ID:8662351
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:735341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12151359|PMID:18640142
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:2876	laryngeal squamous cell carcinoma		ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:15646812|REF_RGD_ID:8662837
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:305	carcinoma		ISO	RGD:732911	D	RGD:9068941	20200609	RGD			PMID:10430900|REF_RGD_ID:8662432
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:3070	high grade glioma	severity	ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:18791688|REF_RGD_ID:13702128
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:3070	high grade glioma	severity	ISO	RGD:735341	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter:	PMID:20844987|REF_RGD_ID:13702125
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:3070	high grade glioma	treatment	ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:9144534|REF_RGD_ID:13702129
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:735341	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:35303175
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:3114	serous cystadenocarcinoma	disease_progression	ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:16012716|REF_RGD_ID:8662305
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:3179	inverted papilloma		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus:	PMID:19863319|PMID:21608063|REF_RGD_ID:8662353|REF_RGD_ID:8662357
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:3587	pancreatic ductal carcinoma	disease_progression	ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:17671118|REF_RGD_ID:8662851
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:735341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15375580
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:735341	D	RGD:9068941	20210910	RGD		human cells in mouse model	PMID:23632475|REF_RGD_ID:150404268
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:4448	macular degeneration		ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:20054800|REF_RGD_ID:10043353
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:4905	pancreatic carcinoma		ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:9252195|REF_RGD_ID:8662427
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:735341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12878215
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:5517	stomach carcinoma	disease_progression	ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:11745255|REF_RGD_ID:8662389
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:557	kidney disease		ISO	RGD:735341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16968891
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:5759	sebaceous gland neoplasm		ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:12354803|REF_RGD_ID:8662839
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:6255	growth hormone secreting pituitary adenoma		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		protein:increased expression:pituitary gland:	PMID:18981426|REF_RGD_ID:8662821
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:69328	D	RGD:9068941	20200609	RGD			PMID:24412385|REF_RGD_ID:10043361
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:732911	D	RGD:9068941	20200609	RGD			PMID:24334871|REF_RGD_ID:10043360
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:7910	maxillary sinus squamous cell carcinoma		ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:15040115|REF_RGD_ID:8662355
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:8466	retinal degeneration		ISO	RGD:69328	D	RGD:9068941	20230525	RGD		associated with hyperaldosterone; mRNA:increased expression:retina (rat)	PMID:29713904|REF_RGD_ID:152025547
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:8472	localized scleroderma		ISO	RGD:732911	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:skin:	PMID:15803328|REF_RGD_ID:8662838
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:8577	ulcerative colitis	disease_progression	ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:15743319|REF_RGD_ID:8662406
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:8893	psoriasis		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:skin:	PMID:7636313|REF_RGD_ID:8662825
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:69328	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney	PMID:17714589|REF_RGD_ID:2289666
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney	PMID:17714589|REF_RGD_ID:2289666
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		protein:increased expression:epithelial cell:	PMID:9546362|REF_RGD_ID:8662446
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9000040	Hypertrophy		ISO	RGD:735341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27652271
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		associated with Eyelid Neoplasms;	PMID:19628749|REF_RGD_ID:8661799
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		associated with Oral Squamous Cell Carcinoma;	PMID:15817070|REF_RGD_ID:8662374
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9000117	Esophageal Neoplasms	disease_progression	ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:11903577|REF_RGD_ID:8662379
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:69328	D	RGD:9068941	20200609	RGD		protein:increased expression:stomach	PMID:23890812|REF_RGD_ID:13792775
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:735341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14647439
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9000332	Hypovolemia		ISO	RGD:69328	D	RGD:9068941	20200609	RGD			PMID:10451498|REF_RGD_ID:10043817
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9000403	Animal Mammary Neoplasms	onset	ISO	RGD:732911	D	RGD:9068941	20200609	RGD			PMID:11103935|REF_RGD_ID:8662404
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		associated with Melanoma;	PMID:9194578|REF_RGD_ID:8662817
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9000998	Brain Injuries		ISO	RGD:69328	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus:	PMID:9914434|REF_RGD_ID:8662346
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9000998	Brain Injuries		ISO	RGD:735341	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: therapeutic	PMID:40852845
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:69328	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver:	PMID:8640740|REF_RGD_ID:8662309
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9002085	Congenital Cholesteatoma		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		protein:increased expression:	PMID:23324739|REF_RGD_ID:8661795
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:735341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27652271
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9002221	Hyperplasia		ISO	RGD:69328	D	RGD:9068941	20200609	RGD		protein:increased expression	PMID:23890812|REF_RGD_ID:13792775
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9002234	Pituitary Neoplasms		ISO	RGD:732911	D	RGD:9068941	20200609	RGD			PMID:18981426|REF_RGD_ID:8662821
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9002245	Intestinal Neoplasms		ISO	RGD:732911	D	RGD:9068941	20200609	RGD			PMID:11212250|REF_RGD_ID:8662377
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9002245	Intestinal Neoplasms		ISO	RGD:735341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:11535846|PMID:12468628
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12727815|PMID:15598783
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9002644	Premature Aging		ISO	RGD:732911	D	RGD:9068941	20200609	RGD			PMID:23207764|REF_RGD_ID:10043192
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		protein:decreased expression:ovary	PMID:9006333|REF_RGD_ID:2289661
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:732911	D	RGD:9068941	20200609	RGD			PMID:21187137|REF_RGD_ID:8661793
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:735341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20876807
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:735341	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: therapeutic	PMID:40852845
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9003036	Oral Lichen Planus		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		protein:increased expression:mucosa:	PMID:12076323|REF_RGD_ID:8662419
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9003216	Salivary Gland Neoplasms	onset	ISO	RGD:732911	D	RGD:9068941	20200609	RGD			PMID:11103935|REF_RGD_ID:8662404
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		protein:decreased expression:uterine cervix	PMID:18203777|REF_RGD_ID:2289651
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:69328	D	RGD:9068941	20200609	RGD			PMID:10451498|REF_RGD_ID:10043817
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:735341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16968891
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9004240	Phyllodes Tumor	severity	ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:17090194|REF_RGD_ID:2289654
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:732911	D	RGD:9068941	20200609	RGD			PMID:9264409|REF_RGD_ID:8662813
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9004484	Sepsis		ISO	RGD:69328	D	RGD:9068941	20200609	RGD			PMID:10451498|REF_RGD_ID:10043817
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:69328	D	RGD:9068941	20200609	RGD		protein:decreased expression:thyroid gland	PMID:23890812|REF_RGD_ID:13792775
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9004745	RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES		ISO	RGD:69328	D	RGD:9068941	20230525	RGD		associated with hyperaldosterone; mRNA:increased expression:retina (rat)	PMID:29713904|REF_RGD_ID:152025547
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9004994	Embryo Loss		ISO	RGD:735341	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35038060
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:735341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12466968|PMID:18508827
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69328	D	RGD:9068941	20200609	RGD		protein:increased expression:testes:	PMID:24828139|REF_RGD_ID:8662307
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9005873	Tongue Neoplasms	disease_progression	ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:11488071|REF_RGD_ID:8662423
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9007170	Bowen's Disease		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		protein:increased expression:skin:	PMID:10583111|REF_RGD_ID:8662826
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:735341	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:33010264
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9007400	Lip Neoplasms		ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:17238970|REF_RGD_ID:8662391
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9007479	Habitual Abortions		ISO	RGD:735341	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35038060
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9007480	Hyperoxia		ISO	RGD:69328	D	RGD:9068941	20200609	RGD			PMID:18082050|REF_RGD_ID:2289663
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9007480	Hyperoxia		ISO	RGD:732911	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:9476904|REF_RGD_ID:10043823
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9007558	Acute Experimental Pancreatitis		ISO	RGD:69328	D	RGD:9068941	20200609	RGD			PMID:10451498|REF_RGD_ID:10043817
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:16837908|REF_RGD_ID:2289683
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9007715	Endometrial Neoplasms	susceptibility	ISO	RGD:735341	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.S31R	PMID:15099969|REF_RGD_ID:2296047
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		protein:increased expression:skin:	PMID:11860939|REF_RGD_ID:8662429
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9008824	Sarcopenia	treatment	ISO	RGD:732911	D	RGD:9068941	20200609	RGD			PMID:20022929|REF_RGD_ID:10043356
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		DNA:snp: :rs3176336	PMID:18174243|REF_RGD_ID:2289652
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:16537179|REF_RGD_ID:2289656
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:732911	D	RGD:9068941	20220825	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:916	liver benign neoplasm		ISO	RGD:69328	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:23890812|REF_RGD_ID:13792775
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9206	Barrett's esophagus		ISO	RGD:735341	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus of esophagus mucosa:	PMID:11753681|REF_RGD_ID:8662398
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9282	ocular hypertension		ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:14985792|REF_RGD_ID:8661805
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9655	oral mucosa leukoplakia		ISO	RGD:735341	D	RGD:9068941	20200609	RGD			PMID:10873097|REF_RGD_ID:8662371
8830329	Cdkn1a	cyclin dependent kinase inhibitor 1A	gene	DOID:9655	oral mucosa leukoplakia	susceptibility	ISO	RGD:735341	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:149A>G(human)	PMID:10873097|REF_RGD_ID:8662371
8830336	Gls	glutaminase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8830336	Gls	glutaminase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8830336	Gls	glutaminase	gene	DOID:0061156	CASGID syndrome		ISO	RGD:736636	D	RGD:7240710	20190315	OMIM			
8830336	Gls	glutaminase	gene	DOID:0061156	CASGID syndrome		ISO	RGD:736636	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CASGID SYNDROME | ClinVar Annotator: match by term: Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	PMID:25741868
8830336	Gls	glutaminase	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
8830336	Gls	glutaminase	gene	DOID:0112207	developmental and epileptic encephalopathy 71		ISO	RGD:736636	D	RGD:7240710	20190315	OMIM			
8830336	Gls	glutaminase	gene	DOID:0112207	developmental and epileptic encephalopathy 71		ISO	RGD:736636	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 71	PMID:25741868|PMID:30575854
8830336	Gls	glutaminase	gene	DOID:1059	intellectual disability		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8830336	Gls	glutaminase	gene	DOID:11830	myopia		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
8830336	Gls	glutaminase	gene	DOID:1324	lung cancer		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8830336	Gls	glutaminase	gene	DOID:1826	epilepsy		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8830336	Gls	glutaminase	gene	DOID:1827	generalized epilepsy		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
8830336	Gls	glutaminase	gene	DOID:1909	melanoma		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8830336	Gls	glutaminase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8830336	Gls	glutaminase	gene	DOID:3070	high grade glioma		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8830336	Gls	glutaminase	gene	DOID:3319	lymphangioleiomyomatosis		ISO	RGD:736636	D	RGD:9068941	20220630	RGD		protein:increased expression:lung (human)	PMID:29885404|REF_RGD_ID:152995523
8830336	Gls	glutaminase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8830336	Gls	glutaminase	gene	DOID:5041	esophageal cancer		ISO	RGD:736636	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8830336	Gls	glutaminase	gene	DOID:535	sleep disorder		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868
8830336	Gls	glutaminase	gene	DOID:5723	optic atrophy		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8830336	Gls	glutaminase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830336	Gls	glutaminase	gene	DOID:630	genetic disease		ISO	RGD:736636	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:33057194
8830336	Gls	glutaminase	gene	DOID:8398	osteoarthritis		ISO	RGD:736636	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8830336	Gls	glutaminase	gene	DOID:9000343	Vision Disorders		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
8830336	Gls	glutaminase	gene	DOID:9000631	Hyper-Beta-Alaninemia		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyper-beta-alaninemia	PMID:25741868
8830336	Gls	glutaminase	gene	DOID:9001502	Congenital Microtia		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
8830336	Gls	glutaminase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736636	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8830336	Gls	glutaminase	gene	DOID:9002720	Splenomegaly		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868
8830336	Gls	glutaminase	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:736636	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8830336	Gls	glutaminase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8830336	Gls	glutaminase	gene	DOID:9004866	Ataxia		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
8830336	Gls	glutaminase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
8830336	Gls	glutaminase	gene	DOID:9005979	Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine		ISO	RGD:736636	D	RGD:7240710	20190821	OMIM			
8830336	Gls	glutaminase	gene	DOID:9005979	Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine		ISO	RGD:736636	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE | ClinVar Annotator: match by term: Global developmental delay, progressive ataxia, and elevated glutamine	PMID:25741868
8830336	Gls	glutaminase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8830336	Gls	glutaminase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8830336	Gls	glutaminase	gene	DOID:9008189	Pyelectasis		ISO	RGD:736636	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: pyelectasis	PMID:32641753
8830336	Gls	glutaminase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736636	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8830336	Gls	glutaminase	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	PMID:25741868
8830336	Gls	glutaminase	gene	DOID:9970	obesity		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1352306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:0070431	hyperphosphatasia with impaired intellectual development syndrome		ISO	RGD:1352306	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome	PMID:25741868|PMID:27618451|PMID:30217754|PMID:30345601
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:0070436	hyperphosphatasia with impaired intellectual development syndrome 4		ISO	RGD:1352306	D	RGD:7240710	20180130	OMIM			
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:0070436	hyperphosphatasia with impaired intellectual development syndrome 4		ISO	RGD:1352306	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 | ClinVar Annotator: match by term: Hyperphosphatasia with impaired intellectual development syndrome 4 | ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 4 | ClinVar Annotator: match by term: PGAP3-related condition	PMID:16199547|PMID:2443911|PMID:25741868|PMID:26077850|PMID:27120253|PMID:28492532|PMID:28794914|PMID:29310717|PMID:30217754|PMID:30345601|PMID:32726939|PMID:34582790|PMID:35887114|PMID:36344539
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:0080809	chronic asthma		ISO	RGD:1352306	D	RGD:9068941	20250911	RGD		DNA:SNP:intron:rs2517955	PMID:32795586|REF_RGD_ID:626467893
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:0080833	laryngomalacia		ISO	RGD:1352306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1352306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy	PMID:25741868
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:1059	intellectual disability		ISO	RGD:1352306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:10907	microcephaly		ISO	RGD:1352306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:12849	autistic disorder		ISO	RGD:1352306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:24439110|PMID:25741868|PMID:29531774
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:1826	epilepsy		ISO	RGD:1352306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:24439110|PMID:25741868|PMID:29531774
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:1969	cerebral palsy		ISO	RGD:1352306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:24439110|PMID:25741868|PMID:29531774
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:630	genetic disease		ISO	RGD:1352306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:2443911|PMID:25741868|PMID:27120253|PMID:28492532
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:674	cleft palate		ISO	RGD:1352306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:24439110|PMID:25741868|PMID:29531774
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1352306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:9001510	Funnel Chest		ISO	RGD:1352306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:24439110|PMID:25741868|PMID:29531774
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:9003507	Premature Birth		ISO	RGD:1352306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1352306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:24439110|PMID:25741868|PMID:29531774
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1352306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay | ClinVar Annotator: match by term: developmental delay	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32845056|PMID:9536098
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:9415	allergic asthma		ISO	RGD:1352306	D	RGD:9068941	20251009	RGD		DNA:SNP:CDS:rs2941504	PMID:22188591|REF_RGD_ID:628374607
8830357	Pgap3	post-GPI attachment to proteins phospholipase 3	gene	DOID:9415	allergic asthma	susceptibility	ISO	RGD:1352306	D	RGD:9068941	20251009	RGD		DNA:SNPs: :rs2941504,rs8076131	PMID:31959860|REF_RGD_ID:628374609
8830370	LOC102029440	heat shock 70 kDa protein 1-like	gene	DOID:0050156	idiopathic pulmonary fibrosis	susceptibility	ISO	RGD:1353078	D	RGD:9068941	20260122	RGD		DNA:SNPs: :rs2227956, rs2075800	PMID:26496868|REF_RGD_ID:11342098
8830370	LOC102029440	heat shock 70 kDa protein 1-like	gene	DOID:0060500	drug allergy		ISO	RGD:1353078	D	RGD:9068941	20240822	CTD		CTD Direct Evidence: marker/mechanism	PMID:16538175
8830370	LOC102029440	heat shock 70 kDa protein 1-like	gene	DOID:0110892	inflammatory bowel disease 1		ISO	RGD:1353078	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inflammatory bowel disease 1	PMID:28126021
8830370	LOC102029440	heat shock 70 kDa protein 1-like	gene	DOID:10316	pneumoconiosis	severity	ISO	RGD:1353078	D	RGD:9068941	20260122	RGD		DNA:SNP: :rs2227956	PMID:21471543|REF_RGD_ID:631721280
8830370	LOC102029440	heat shock 70 kDa protein 1-like	gene	DOID:13141	uveitis		ISO	RGD:1353078	D	RGD:9068941	20240822	RGD		associated with Sarcoidosis;DNA:SNP:exon:rs2075800 (human)	PMID:17591867|REF_RGD_ID:5147597
8830370	LOC102029440	heat shock 70 kDa protein 1-like	gene	DOID:13378	Kawasaki disease		ISO	RGD:1353078	D	RGD:9068941	20240822	RGD		DNA:missense mutation, haplotype:cds:2437T>C (p.M493T) (rs2227956) (human)	PMID:23870089|REF_RGD_ID:8662464
8830370	LOC102029440	heat shock 70 kDa protein 1-like	gene	DOID:1470	major depressive disorder		ISO	RGD:1353078	D	RGD:9068941	20240822	RGD		DNA:SNPs: :rs2075799, rs2227956 (human)	PMID:17428599|REF_RGD_ID:5147598
8830370	LOC102029440	heat shock 70 kDa protein 1-like	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1353078	D	RGD:8554872	20240827	ClinVar		ClinVar Annotator: match by term: COPD	
8830370	LOC102029440	heat shock 70 kDa protein 1-like	gene	DOID:4362	cervical cancer		ISO	RGD:1353078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8830370	LOC102029440	heat shock 70 kDa protein 1-like	gene	DOID:5419	schizophrenia		ISO	RGD:1353078	D	RGD:9068941	20240822	RGD		DNA:silent mutation, missense mutation, haplotype:cds: (rs2075799, rs2227956) (human)	PMID:18299791|REF_RGD_ID:5147596
8830370	LOC102029440	heat shock 70 kDa protein 1-like	gene	DOID:8778	Crohn's disease		ISO	RGD:1353078	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inflammatory bowel disease 1	PMID:28126021
8830370	LOC102029440	heat shock 70 kDa protein 1-like	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:1353078	D	RGD:9068941	20240822	RGD		DNA:SNP, haplotype: :rs2227956 (human)	PMID:17009596|REF_RGD_ID:8662466
8830370	LOC102029440	heat shock 70 kDa protein 1-like	gene	DOID:9003817	Sudden Hearing Loss		ISO	RGD:1353078	D	RGD:9068941	20240822	RGD		DNA:SNP, haplotype: :rs2075800 (human)	PMID:22922572|REF_RGD_ID:8662465
8830370	LOC102029440	heat shock 70 kDa protein 1-like	gene	DOID:9007806	Drug Hypersensitivity Syndrome		ISO	RGD:1353078	D	RGD:9068941	20240822	RGD		DNA:polymorphism, haplotype: :p.M493T (human)	PMID:15024131|REF_RGD_ID:8662461
8830370	LOC102029440	heat shock 70 kDa protein 1-like	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1353078	D	RGD:9068941	20240822	RGD		DNA:SNPs: :rs2075800, rs2227956 (human)	PMID:20498198|REF_RGD_ID:5147600
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:0050685	small cell carcinoma		ISO	RGD:1344832	D	RGD:9068941	20200609	RGD			PMID:16313792|REF_RGD_ID:2312747
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:0080600	COVID-19		ISO	RGD:1344832	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:0080600	COVID-19		ISO	RGD:1344832	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:628734	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary follicle, granulosa cell	PMID:17641850|REF_RGD_ID:2312746
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:1240	leukemia		ISO	RGD:1344832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17204177
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:1324	lung cancer		ISO	RGD:1344832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:1793	pancreatic cancer		ISO	RGD:1344832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11234897
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:2349	arteriosclerosis		ISO	RGD:1344832	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:17000905|REF_RGD_ID:2312742
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:3068	glioblastoma		ISO	RGD:1344832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21877938
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:3070	high grade glioma		ISO	RGD:1344832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1344832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24345465
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1344832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20403343
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1344832	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17326159
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:769	neuroblastoma		ISO	RGD:1344832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16820965
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:8398	osteoarthritis		ISO	RGD:628734	D	RGD:9068941	20200609	RGD			PMID:14872496|REF_RGD_ID:2290500
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1344832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21209944
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9000998	Brain Injuries		ISO	RGD:1344832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23159883
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9001488	Human Influenza		ISO	RGD:1344832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1344832	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:18287563|REF_RGD_ID:2312739
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1344832	D	RGD:9068941	20251106	CTD		CTD Direct Evidence: therapeutic	PMID:17767197|PMID:24345465|PMID:28467689
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1344832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16985049
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1344832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16368536|PMID:17636462|PMID:17718901|PMID:21209944
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1344832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21616060
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1344832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15993848
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9003204	Neovascularization, Pathologic		ISO	RGD:1344832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19509267|PMID:21209944
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1344832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1344832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21252285
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1344832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1344832	D	RGD:9068941	20200609	RGD			PMID:19572802|REF_RGD_ID:2312737
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:628734	D	RGD:9068941	20200609	RGD			PMID:18649770|REF_RGD_ID:2312738
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:732827	D	RGD:9068941	20200609	RGD			PMID:12577054|REF_RGD_ID:2312744
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1344832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18980244
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1344832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20071162
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1344832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17273769
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1344832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18483385
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1344832	D	RGD:9068941	20200609	RGD			PMID:18057577|REF_RGD_ID:2312740
8830376	Tnfsf10	TNF superfamily member 10	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:732827	D	RGD:9068941	20200609	RGD			PMID:12882912|REF_RGD_ID:2312743
8830394	Inpp1	inositol polyphosphate-1-phosphatase	gene	DOID:1115	sarcoma		ISO	RGD:1314476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8830394	Inpp1	inositol polyphosphate-1-phosphatase	gene	DOID:12849	autistic disorder		ISO	RGD:1314476	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14627686
8830394	Inpp1	inositol polyphosphate-1-phosphatase	gene	DOID:1909	melanoma		ISO	RGD:1314476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8830394	Inpp1	inositol polyphosphate-1-phosphatase	gene	DOID:4362	cervical cancer		ISO	RGD:1314476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8830394	Inpp1	inositol polyphosphate-1-phosphatase	gene	DOID:5041	esophageal cancer		ISO	RGD:1314476	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8830394	Inpp1	inositol polyphosphate-1-phosphatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830394	Inpp1	inositol polyphosphate-1-phosphatase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8830394	Inpp1	inositol polyphosphate-1-phosphatase	gene	DOID:674	cleft palate		ISO	RGD:1314476	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Cleft palate	
8830394	Inpp1	inositol polyphosphate-1-phosphatase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8830394	Inpp1	inositol polyphosphate-1-phosphatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8830410	Kif3a	kinesin family member 3A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8830410	Kif3a	kinesin family member 3A	gene	DOID:0080006	bone development disease		ISO	RGD:1352051	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17698054
8830410	Kif3a	kinesin family member 3A	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1552608	D	RGD:9068941	20220825	MouseDO			
8830410	Kif3a	kinesin family member 3A	gene	DOID:0080600	COVID-19		ISO	RGD:1352051	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8830410	Kif3a	kinesin family member 3A	gene	DOID:10325	silicosis		ISO	RGD:1352051	D	RGD:9068941	20230105	RGD		protein:increased expression:respiratory system fluid/secretion:	PMID:32042332|REF_RGD_ID:155791682
8830410	Kif3a	kinesin family member 3A	gene	DOID:10325	silicosis		ISO	RGD:621536	D	RGD:9068941	20230105	RGD		protein:decreased expression:lung	PMID:32042332|REF_RGD_ID:155791682
8830410	Kif3a	kinesin family member 3A	gene	DOID:10534	stomach cancer		ISO	RGD:1352051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8830410	Kif3a	kinesin family member 3A	gene	DOID:1115	sarcoma		ISO	RGD:1352051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8830410	Kif3a	kinesin family member 3A	gene	DOID:1148	polydactyly		ISO	RGD:1352051	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17698054
8830410	Kif3a	kinesin family member 3A	gene	DOID:1205	allergic disease	susceptibility	ISO	RGD:1352051	D	RGD:9068941	20260205	RGD		DNA:SNPs: :multiple	PMID:21912604|REF_RGD_ID:632518336
8830410	Kif3a	kinesin family member 3A	gene	DOID:1934	dysostosis		ISO	RGD:1552608	D	RGD:9068941	20220825	MouseDO			
8830410	Kif3a	kinesin family member 3A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8830410	Kif3a	kinesin family member 3A	gene	DOID:2841	asthma		ISO	RGD:1352051	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21912604
8830410	Kif3a	kinesin family member 3A	gene	DOID:2841	asthma		ISO	RGD:1352051	D	RGD:9068941	20260205	RGD		mRNA:decreased expression:nasal cavity epithelium	PMID:21912604|REF_RGD_ID:632518336
8830410	Kif3a	kinesin family member 3A	gene	DOID:2841	asthma		ISO	RGD:1552608	D	RGD:9068941	20260205	RGD		mRNA:decreased expression:lung	PMID:21912604|REF_RGD_ID:632518336
8830410	Kif3a	kinesin family member 3A	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1352051	D	RGD:9068941	20260205	RGD		DNA:SNPs: :multiple	PMID:21912604|REF_RGD_ID:632518336
8830410	Kif3a	kinesin family member 3A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8830410	Kif3a	kinesin family member 3A	gene	DOID:4362	cervical cancer		ISO	RGD:1352051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8830410	Kif3a	kinesin family member 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830410	Kif3a	kinesin family member 3A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8830410	Kif3a	kinesin family member 3A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1352051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8830410	Kif3a	kinesin family member 3A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8830410	Kif3a	kinesin family member 3A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8830410	Kif3a	kinesin family member 3A	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1352051	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17698054
8830410	Kif3a	kinesin family member 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8830410	Kif3a	kinesin family member 3A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8830410	Kif3a	kinesin family member 3A	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1352051	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:730986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:730986	D	RGD:8554872	20230815	ClinVar		ClinVar Annotator: match by term: Autism, susceptiblity to	PMID:25741868
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:730986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features | ClinVar Annotator: match by term: dysmorphic features	PMID:24033266|PMID:25741868|PMID:34186028
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:730986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868|PMID:34186028
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:730986	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:730986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868|PMID:34186028
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:0110731	neuronal ceroid lipofuscinosis 3		ISO	RGD:730987	D	RGD:9068941	20220825	MouseDO		OMIM:204200	
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:730986	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive sensorineural hearing impairment	
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:10534	stomach cancer		ISO	RGD:730986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:1059	intellectual disability		ISO	RGD:730986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability | ClinVar Annotator: match by term: severe intellectual disability	PMID:25741868|PMID:34186028
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:10907	microcephaly		ISO	RGD:730986	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:34186028
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:10908	hydrocephalus		ISO	RGD:730986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aqueductal stenosis	PMID:25741868|PMID:34186028
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:12849	autistic disorder		ISO	RGD:730986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:34186028
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:730987	D	RGD:9068941	20200609	RGD			PMID:12059962|REF_RGD_ID:734783
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:1826	epilepsy		ISO	RGD:730986	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:34186028
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:2030	anxiety disorder		ISO	RGD:730986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: anxiety	PMID:25741868|PMID:34186028
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:3070	high grade glioma		ISO	RGD:730986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:730986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:4362	cervical cancer		ISO	RGD:730986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:730986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:630	genetic disease		ISO	RGD:730986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17652080|PMID:26342074|PMID:28492532|PMID:34186028
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:8501	fundus dystrophy		ISO	RGD:730986	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:34186028
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:730986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:9000918	Disease Progression		ISO	RGD:730986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:9001042	Neurodevelopmental Disorder with Seizures and Brain Abnormalities		ISO	RGD:730986	D	RGD:7240710	20221123	OMIM			
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:9001276	Failure to Thrive		ISO	RGD:730986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:34186028
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:730986	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868|PMID:34186028
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:730986	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:24033266|PMID:25741868|PMID:34186028
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:9005415	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES		ISO	RGD:730986	D	RGD:7240710	20211027	OMIM			
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:9005415	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES		ISO	RGD:730986	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: CLCN3-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and brain abnormalities	PMID:24033266|PMID:25741868|PMID:34186028
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:730986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:24033266|PMID:25741868|PMID:34186028
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:9007078	Hip Dislocation		ISO	RGD:730986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip dislocation	PMID:25741868|PMID:34186028
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:730986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24033266|PMID:25741868|PMID:34186028
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:9009021	Plagiocephaly		ISO	RGD:730986	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:34186028
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:730986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8830439	Clcn3	Cl-/H+ antiporter 3	gene	DOID:9650	pathologic nystagmus		ISO	RGD:730986	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:34186028
8830495	Fundc1	FUN14 domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8830495	Fundc1	FUN14 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830495	Fundc1	FUN14 domain containing 1	gene	DOID:9002669	Hypoxia		ISO	RGD:1557033	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain (mouse)	PMID:22267086|REF_RGD_ID:12738373
8830495	Fundc1	FUN14 domain containing 1	gene	DOID:9002669	Hypoxia	severity	ISO	RGD:1557033	D	RGD:9068941	20200609	RGD			PMID:27995894|REF_RGD_ID:12738374
8830495	Fundc1	FUN14 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8830495	Fundc1	FUN14 domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351437	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8830504	Hdc	histidine decarboxylase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8830504	Hdc	histidine decarboxylase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8830504	Hdc	histidine decarboxylase	gene	DOID:11119	Gilles de la Tourette syndrome		ISO	RGD:736253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GILLES DE LA TOURETTE SYNDROME | ClinVar Annotator: match by term: HDC-related condition | ClinVar Annotator: match by term: Tourette syndrome	PMID:25741868
8830504	Hdc	histidine decarboxylase	gene	DOID:11119	Gilles de la Tourette syndrome	susceptibility	ISO	RGD:736253	D	RGD:7240710	20230505	OMIM			
8830504	Hdc	histidine decarboxylase	gene	DOID:1324	lung cancer		ISO	RGD:736253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8830504	Hdc	histidine decarboxylase	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:10706	D	RGD:9068941	20200609	RGD			PMID:17158962|REF_RGD_ID:5143920
8830504	Hdc	histidine decarboxylase	gene	DOID:2841	asthma		ISO	RGD:736253	D	RGD:9068941	20200609	RGD		associated with Rhinitis;DNA:SNP: :p.E644D (rs2073440) (human)	PMID:20608921|REF_RGD_ID:5128884
8830504	Hdc	histidine decarboxylase	gene	DOID:3275	thymoma		ISO	RGD:736253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8830504	Hdc	histidine decarboxylase	gene	DOID:4483	rhinitis		ISO	RGD:2790	D	RGD:9068941	20200609	RGD			PMID:15054596|REF_RGD_ID:5143921
8830504	Hdc	histidine decarboxylase	gene	DOID:4483	rhinitis		ISO	RGD:736253	D	RGD:9068941	20200609	RGD		DNA:SNP: :p.E644D (rs2073440) (human)	PMID:20608921|REF_RGD_ID:5128884
8830504	Hdc	histidine decarboxylase	gene	DOID:5041	esophageal cancer		ISO	RGD:736253	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8830504	Hdc	histidine decarboxylase	gene	DOID:552	pneumonia		ISO	RGD:10706	D	RGD:9068941	20200609	RGD			PMID:14556983|REF_RGD_ID:5143922
8830504	Hdc	histidine decarboxylase	gene	DOID:9005369	Hepatomegaly		ISO	RGD:736253	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
8830504	Hdc	histidine decarboxylase	gene	DOID:9008527	Chlamydophila Infections		ISO	RGD:10706	D	RGD:9068941	20200609	RGD			PMID:14556983|REF_RGD_ID:5143922
8830504	Hdc	histidine decarboxylase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL	
8830504	Hdc	histidine decarboxylase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8830561	Brd4	bromodomain containing 4	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1316385	D	RGD:9068941	20200609	RGD			PMID:23759512|REF_RGD_ID:9586353
8830561	Brd4	bromodomain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8830561	Brd4	bromodomain containing 4	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1316385	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868|PMID:35887114
8830561	Brd4	bromodomain containing 4	gene	DOID:0050902	medulloblastoma		ISO	RGD:1316385	D	RGD:9068941	20210604	CTD		CTD Direct Evidence: marker/mechanism	PMID:24231268|PMID:31594641
8830561	Brd4	bromodomain containing 4	gene	DOID:0060970	Cornelia de Lange syndrome 6		ISO	RGD:1316385	D	RGD:7240710	20231220	OMIM			
8830561	Brd4	bromodomain containing 4	gene	DOID:0060970	Cornelia de Lange syndrome 6		ISO	RGD:1316385	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRD4-related condition | ClinVar Annotator: match by term: CORNELIA DE LANGE SYNDROME 6 | ClinVar Annotator: match by term: Cornelia de Lange syndrome 6	PMID:25741868|PMID:28492532|PMID:29379197|PMID:35470444
8830561	Brd4	bromodomain containing 4	gene	DOID:0070053	autosomal dominant intellectual developmental disorder 23		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cornelia De Lange-like Syndrome | ClinVar Annotator: match by term: Cornelia de Lange-like syndrome	PMID:25741868
8830561	Brd4	bromodomain containing 4	gene	DOID:0080505	Cornelia de Lange syndrome 1		ISO	RGD:1316385	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Cornelia de Lange syndrome 1	PMID:25741868
8830561	Brd4	bromodomain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8830561	Brd4	bromodomain containing 4	gene	DOID:1059	intellectual disability		ISO	RGD:1316385	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8830561	Brd4	bromodomain containing 4	gene	DOID:11383	cryptorchidism		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:19828451
8830561	Brd4	bromodomain containing 4	gene	DOID:11725	Cornelia de Lange syndrome		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: De Lange syndrome	PMID:25741868|PMID:34035299
8830561	Brd4	bromodomain containing 4	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1316386	D	RGD:9068941	20220825	MouseDO			
8830561	Brd4	bromodomain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8830561	Brd4	bromodomain containing 4	gene	DOID:150	disease of mental health		ISO	RGD:1316385	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Mental disorder	PMID:25741868|PMID:35470444
8830561	Brd4	bromodomain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8830561	Brd4	bromodomain containing 4	gene	DOID:219	colon cancer		ISO	RGD:1316385	D	RGD:9068941	20200609	RGD			PMID:22120039|REF_RGD_ID:9586351
8830561	Brd4	bromodomain containing 4	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:1316385	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:bladder:	PMID:25120803|REF_RGD_ID:9586352
8830561	Brd4	bromodomain containing 4	gene	DOID:289	endometriosis		ISO	RGD:1316385	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Endometriosis	PMID:25741868
8830561	Brd4	bromodomain containing 4	gene	DOID:3068	glioblastoma		ISO	RGD:1316385	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26455392|PMID:27388964
8830561	Brd4	bromodomain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8830561	Brd4	bromodomain containing 4	gene	DOID:3347	osteosarcoma		ISO	RGD:1316385	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24646477
8830561	Brd4	bromodomain containing 4	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:1316386	D	RGD:9068941	20200609	RGD			PMID:23759512|REF_RGD_ID:9586353
8830561	Brd4	bromodomain containing 4	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1316385	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:thyroid	PMID:26707881|REF_RGD_ID:11085509
8830561	Brd4	bromodomain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8830561	Brd4	bromodomain containing 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8830561	Brd4	bromodomain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830561	Brd4	bromodomain containing 4	gene	DOID:630	genetic disease		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8830561	Brd4	bromodomain containing 4	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1316385	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:26224795
8830561	Brd4	bromodomain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8830561	Brd4	bromodomain containing 4	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1316385	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25877301
8830561	Brd4	bromodomain containing 4	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1316385	D	RGD:9068941	20200609	RGD			PMID:23950209|REF_RGD_ID:9586346
8830561	Brd4	bromodomain containing 4	gene	DOID:9002221	Hyperplasia		ISO	RGD:1316385	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25242322
8830561	Brd4	bromodomain containing 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1316385	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24763052
8830561	Brd4	bromodomain containing 4	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1316385	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26752646
8830561	Brd4	bromodomain containing 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316385	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8830561	Brd4	bromodomain containing 4	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1316385	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26707881
8830561	Brd4	bromodomain containing 4	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1316386	D	RGD:9068941	20200609	RGD		protein:increased expression:heart:	PMID:23939492|REF_RGD_ID:9586348
8830561	Brd4	bromodomain containing 4	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:1307282	D	RGD:9068941	20250306	RGD		mRNA,protein:increased expression:heart	PMID:30483785|REF_RGD_ID:597830144
8830561	Brd4	bromodomain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8830561	Brd4	bromodomain containing 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1316385	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8830561	Brd4	bromodomain containing 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1316385	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
8830561	Brd4	bromodomain containing 4	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1316386	D	RGD:9068941	20230209	RGD		mRNA,protein:increased expression:heart	PMID:33982231|REF_RGD_ID:155883171
8830561	Brd4	bromodomain containing 4	gene	DOID:9008582	Developmental Disease		ISO	RGD:1316385	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8830561	Brd4	bromodomain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8830561	Brd4	bromodomain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8830561	Brd4	bromodomain containing 4	gene	DOID:987	alopecia		ISO	RGD:1316385	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25242322
8830585	Art3	ADP-ribosyltransferase 3 (inactive)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8830585	Art3	ADP-ribosyltransferase 3 (inactive)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8830585	Art3	ADP-ribosyltransferase 3 (inactive)	gene	DOID:10534	stomach cancer		ISO	RGD:1320437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8830585	Art3	ADP-ribosyltransferase 3 (inactive)	gene	DOID:1909	melanoma		ISO	RGD:1320437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8830585	Art3	ADP-ribosyltransferase 3 (inactive)	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8830585	Art3	ADP-ribosyltransferase 3 (inactive)	gene	DOID:4362	cervical cancer		ISO	RGD:1320437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8830585	Art3	ADP-ribosyltransferase 3 (inactive)	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1320437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8830585	Art3	ADP-ribosyltransferase 3 (inactive)	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8830585	Art3	ADP-ribosyltransferase 3 (inactive)	gene	DOID:9003566	Mesothelioma		ISO	RGD:1320437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8830585	Art3	ADP-ribosyltransferase 3 (inactive)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8830585	Art3	ADP-ribosyltransferase 3 (inactive)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0050117	disease by infectious agent		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:15580558|PMID:15718250|PMID:22701567|PMID:25741868|PMID:26448950|PMID:28492532|PMID:32935446
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:69098	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Maturity-onset diabetes of the young	PMID:10559219|PMID:12524280|PMID:14692646|PMID:15115830|PMID:15562009|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15886397|PMID:16123337|PMID:16166157|PMID:16357843|PMID:16403845|PMID:16731837|PMID:17021801|PMID:17327377|PMID:17446535|PMID:17490422|PMID:17652641|PMID:18414213|PMID:18556340|PMID:18767144|PMID:20301620|PMID:20642364|PMID:21119644|PMID:21544516|PMID:22471336|PMID:2270156|PMID:22701567|PMID:22768671|PMID:22831748|PMID:23275527|PMID:23320570|PMID:23667671|PMID:24018988|PMID:24401662|PMID:2462236|PMID:24622368|PMID:25201519|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26958039|PMID:27033559|PMID:27118464|PMID:27681997|PMID:27691052|PMID:27908292|PMID:28123437|PMID:28347637|PMID:28492532|PMID:28587604|PMID:28925365|PMID:30377186|PMID:30663027|PMID:31291970|PMID:31464105|PMID:32027066|PMID:32101525|PMID:32893419|PMID:32935446|PMID:33538814|PMID:34566892|PMID:35114785|PMID:35612844|PMID:36208030|PMID:36227502|PMID:37664823|PMID:39190464
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0050951	hereditary ataxia		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	PMID:25741868
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0060334	transient neonatal diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Transient neonatal diabetes mellitus	PMID:12524280|PMID:15115830|PMID:15580558|PMID:15583126|PMID:16123337|PMID:16731837|PMID:18414213|PMID:19139106|PMID:20301620|PMID:22768671|PMID:25555642|PMID:25741868|PMID:26958039|PMID:27681997|PMID:28492532|PMID:32027066|PMID:32893419|PMID:34566892
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0060639	permanent neonatal diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus	PMID:10049691|PMID:10559219|PMID:11318841|PMID:11395395|PMID:11585851|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12213829|PMID:12364426|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:1422196|PMID:14551916|PMID:14692646|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15292329|PMID:15448106|PMID:15448107|PMID:15504982|PMID:15531505|PMID:15561897|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15784703|PMID:15797964|PMID:15807877|PMID:15838686|PMID:15855351|PMID:15886397|PMID:16123337|PMID:16205880|PMID:16268330|PMID:16357843|PMID:16403845|PMID:16416420|PMID:16455067|PMID:16609879|PMID:16636122|PMID:16670688|PMID:16731833|PMID:16731837|PMID:16885549|PMID:16885550|PMID:17021801|PMID:17065345|PMID:17114887|PMID:17257281|PMID:17296510|PMID:17316607|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17652641|PMID:17673911|PMID:17728498|PMID:17823772|PMID:17901525|PMID:17919178|PMID:17956278|PMID:18073297|PMID:18250167|PMID:18290324|PMID:18414213|PMID:18436707|PMID:18556340|PMID:18662362|PMID:18758683|PMID:18767144|PMID:19065048|PMID:19139106|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19372376|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20220270|PMID:20301620|PMID:20424228|PMID:20466780|PMID:20642364|PMID:20685672|PMID:20686794|PMID:21056492|PMID:21115269|PMID:21119644|PMID:21340152|PMID:21352428|PMID:21422196|PMID:21544516|PMID:21682153|PMID:21812132|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22471336|PMID:22512215|PMID:22591706|PMID:22648966|PMID:22701567|PMID:22704848|PMID:22749773|PMID:22768671|PMID:22815030|PMID:22831748|PMID:22958899|PMID:23226037|PMID:23226049|PMID:23275527|PMID:23320570|PMID:23345197|PMID:23652837|PMID:23950723|PMID:24018988|PMID:24068186|PMID:24150202|PMID:24401662|PMID:24421282|PMID:24622368|PMID:24686051|PMID:24698822|PMID:25201519|PMID:25247988|PMID:25308342|PMID:25555642|PMID:25637631|PMID:25741868|PMID:25871929|PMID:25972930|PMID:26388896|PMID:26448950|PMID:26467025|PMID:26590798|PMID:26740944|PMID:26839896|PMID:26958039|PMID:27118464|PMID:27173951|PMID:27181376|PMID:27681997|PMID:27691052|PMID:27908292|PMID:28083968|PMID:28123437|PMID:28262438|PMID:28270372|PMID:28352326|PMID:28442472|PMID:28480665|PMID:28492532|PMID:29361385|PMID:29893194|PMID:30286572|PMID:30377186|PMID:30663027|PMID:31218401|PMID:31291970|PMID:31464105|PMID:32027066|PMID:32041611|PMID:32279225|PMID:32418263|PMID:32792356|PMID:32893419|PMID:32935446|PMID:33046911|PMID:33324081|PMID:33409956|PMID:33502061|PMID:33611546|PMID:33762279|PMID:33816067|PMID:33853507|PMID:33987715|PMID:34566892|PMID:36208030|PMID:36873092|PMID:9831713|PMID:9867219
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0060639	permanent neonatal diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Permanent Neonatal Diabetes Mellitus | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus	PMID:11318841|PMID:11395395|PMID:11585851|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14551916|PMID:14715863|PMID:15111507|PMID:15115830|PMID:15448106|PMID:15531505|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15838686|PMID:15855351|PMID:15886397|PMID:16123337|PMID:16357843|PMID:16416420|PMID:16455067|PMID:16609879|PMID:16670688|PMID:16731837|PMID:16885550|PMID:17021801|PMID:17065345|PMID:17114887|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17652641|PMID:17673911|PMID:17823772|PMID:17901525|PMID:17956278|PMID:18073297|PMID:18250167|PMID:18290324|PMID:18414213|PMID:18436707|PMID:18662362|PMID:18758683|PMID:18767144|PMID:19139106|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20220270|PMID:20301620|PMID:20424228|PMID:20466780|PMID:20589481|PMID:20685672|PMID:20686794|PMID:21056492|PMID:21115269|PMID:21119644|PMID:21340152|PMID:21422196|PMID:21544516|PMID:21812132|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22512215|PMID:22591706|PMID:22648966|PMID:22701567|PMID:22704848|PMID:22768671|PMID:22815030|PMID:22958899|PMID:23226037|PMID:23226049|PMID:23275527|PMID:23345197|PMID:23652837|PMID:24150202|PMID:24401662|PMID:24421282|PMID:24434300|PMID:24622368|PMID:24686051|PMID:25201519|PMID:25308342|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:26388896|PMID:26448950|PMID:26467025|PMID:26839896|PMID:26958039|PMID:27118464|PMID:27681997|PMID:27908292|PMID:28083968|PMID:28270372|PMID:28442472|PMID:28480665|PMID:28492532|PMID:29893194|PMID:30286572|PMID:31218401|PMID:31291970|PMID:32027066|PMID:32041611|PMID:32279225|PMID:32893419|PMID:32935446|PMID:33046911|PMID:33762279|PMID:33853507|PMID:33987715|PMID:34055426|PMID:34304300|PMID:34465386|PMID:34566892|PMID:34789499|PMID:36873092|PMID:39519275|PMID:8923010|PMID:9867219
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0061172	transient neonatal diabetes mellitus 3		ISO	RGD:69098	D	RGD:7240710	20241002	OMIM			
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0061172	transient neonatal diabetes mellitus 3		ISO	RGD:69098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 | ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 3	PMID:10559219|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14551916|PMID:15111507|PMID:15115830|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15784703|PMID:15797964|PMID:15855351|PMID:15886397|PMID:16123337|PMID:16357843|PMID:16455067|PMID:16731837|PMID:17021801|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17490422|PMID:17823772|PMID:18290324|PMID:18414213|PMID:18559200|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:21119644|PMID:21544516|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22471336|PMID:22591706|PMID:22619292|PMID:2270156|PMID:22701567|PMID:22704848|PMID:22768671|PMID:22831748|PMID:22958899|PMID:23275527|PMID:23462667|PMID:23667671|PMID:24018988|PMID:24401662|PMID:2462236|PMID:24622368|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26839896|PMID:26958039|PMID:27033559|PMID:27118464|PMID:27681997|PMID:27908292|PMID:28123437|PMID:28347637|PMID:28350539|PMID:28492532|PMID:28587604|PMID:28766502|PMID:28925365|PMID:29893194|PMID:30377186|PMID:31291970|PMID:32027066|PMID:32101525|PMID:32418263|PMID:32792356|PMID:32893419|PMID:32935446|PMID:33538814|PMID:33852230|PMID:33853507|PMID:34566892|PMID:35114785|PMID:35402560|PMID:35612844|PMID:37664823|PMID:9867219
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0070218	familial hyperinsulinemic hypoglycemia 2		ISO	RGD:69098	D	RGD:7240710	20241002	OMIM			
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0070218	familial hyperinsulinemic hypoglycemia 2		ISO	RGD:69098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2	PMID:10204114|PMID:10559219|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14551916|PMID:14699091|PMID:15111507|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:15886397|PMID:16357843|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18290324|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20032456|PMID:20301620|PMID:20424228|PMID:20694718|PMID:20980454|PMID:21119644|PMID:21544516|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22831748|PMID:22958899|PMID:23275527|PMID:23345197|PMID:23700433|PMID:24018988|PMID:24383515|PMID:24401662|PMID:25741868|PMID:26448950|PMID:26467025|PMID:27118464|PMID:27188453|PMID:27908292|PMID:28123437|PMID:28492532|PMID:28938416|PMID:29216354|PMID:29893194|PMID:30377186|PMID:30873120|PMID:31291970|PMID:32027066|PMID:32202736|PMID:32935446|PMID:33853507|PMID:35402560|PMID:36208030|PMID:8923010|PMID:9356020|PMID:9867219
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0080855	Parkinsonism		ISO	RGD:69247	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:prefrontal cortex, striatum, hippocampus (rat)	PMID:15857625|REF_RGD_ID:1598645
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0110757	type 1 diabetes mellitus 20		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 1 diabetes mellitus 20	PMID:25741868
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:69098	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15855351|PMID:15998776|PMID:16166157|PMID:16332676|PMID:16455067|PMID:16670688|PMID:17257281|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17673911|PMID:17823772|PMID:18250167|PMID:18414213|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20685672|PMID:21115269|PMID:21573802|PMID:21765448|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22311976|PMID:22512215|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22958899|PMID:23275527|PMID:23345197|PMID:24401662|PMID:24421282|PMID:24434300|PMID:24686051|PMID:25201519|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26839896|PMID:27118464|PMID:27188453|PMID:27908292|PMID:28173619|PMID:28262438|PMID:28270372|PMID:28352326|PMID:28492532|PMID:28766502|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:30377186|PMID:31195986|PMID:31218401|PMID:32935446|PMID:33046911|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:9867219
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:69098	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:1422196|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15448107|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15855351|PMID:15998776|PMID:16166157|PMID:16332676|PMID:16455067|PMID:16670688|PMID:17021801|PMID:17114887|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17673911|PMID:17823772|PMID:17956278|PMID:18250167|PMID:18414213|PMID:18559200|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20685672|PMID:20686794|PMID:20980454|PMID:21115269|PMID:21573802|PMID:21765448|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22311976|PMID:22512215|PMID:22591706|PMID:22619292|PMID:22701567|PMID:22704848|PMID:22831748|PMID:22958899|PMID:23226049|PMID:23275527|PMID:23345197|PMID:23462667|PMID:24383515|PMID:24401662|PMID:24421282|PMID:24434300|PMID:24686051|PMID:25201519|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26839896|PMID:27118464|PMID:27181376|PMID:27188453|PMID:27908292|PMID:28173619|PMID:28262438|PMID:28270372|PMID:28350539|PMID:28352326|PMID:28442472|PMID:28492532|PMID:28766502|PMID:28938416|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:30377186|PMID:31195986|PMID:31218401|PMID:32027066|PMID:32418263|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33502061|PMID:33762279|PMID:33852230|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:36208030|PMID:9867219
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:69098	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10559219|PMID:11395395|PMID:11872696|PMID:12475776|PMID:12524280|PMID:1422196|PMID:14715863|PMID:14871556|PMID:15448107|PMID:15562009|PMID:15579781|PMID:15580558|PMID:15718250|PMID:15807877|PMID:15855351|PMID:15998776|PMID:16166157|PMID:16332676|PMID:16357843|PMID:16670688|PMID:17021801|PMID:17114887|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17673911|PMID:17956278|PMID:18250167|PMID:18414213|PMID:18559200|PMID:18767144|PMID:19357197|PMID:20049716|PMID:20301620|PMID:20589481|PMID:20685672|PMID:20686794|PMID:20980454|PMID:21115269|PMID:21573802|PMID:22005014|PMID:22289434|PMID:22311976|PMID:22512215|PMID:22619292|PMID:22701567|PMID:22831748|PMID:22958899|PMID:23226049|PMID:23275527|PMID:23345197|PMID:23462667|PMID:23798684|PMID:24383515|PMID:24401662|PMID:24421282|PMID:24434300|PMID:24686051|PMID:25201519|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26590798|PMID:26839896|PMID:27118464|PMID:27181376|PMID:27188453|PMID:27908292|PMID:28123437|PMID:28173619|PMID:28262438|PMID:28270372|PMID:28350539|PMID:28352326|PMID:28442472|PMID:28492532|PMID:28766502|PMID:28938416|PMID:29216354|PMID:29361385|PMID:29454299|PMID:30377186|PMID:31195986|PMID:31218401|PMID:32027066|PMID:32418263|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33502061|PMID:33611546|PMID:33762279|PMID:33852230|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:36208030
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:69098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MODY1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10559219|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16166157|PMID:16357843|PMID:16455067|PMID:17021801|PMID:17257281|PMID:17327377|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18559200|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:21573802|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22619292|PMID:22701567|PMID:22704848|PMID:22831748|PMID:22958899|PMID:23275527|PMID:23462667|PMID:24018988|PMID:24401662|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26839896|PMID:27118464|PMID:27908292|PMID:28123437|PMID:28173619|PMID:28262438|PMID:28350539|PMID:28492532|PMID:28766502|PMID:29454299|PMID:29893194|PMID:30377186|PMID:30386300|PMID:31195986|PMID:31291970|PMID:32027066|PMID:32418263|PMID:32792356|PMID:32935446|PMID:33852230|PMID:33853507|PMID:34566892|PMID:35402560|PMID:36208030|PMID:9867219
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0111102	maturity-onset diabetes of the young type 3		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3	PMID:25741868
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0111110	maturity-onset diabetes of the young type 13		ISO	RGD:69098	D	RGD:7240710	20241002	OMIM			
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0111110	maturity-onset diabetes of the young type 13		ISO	RGD:69098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MODY, TYPE 13 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 13 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 13	PMID:10559219|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14551916|PMID:15111507|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16357843|PMID:16455067|PMID:17021801|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17490422|PMID:17823772|PMID:18290324|PMID:18414213|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:21054355|PMID:21210267|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22471336|PMID:22591706|PMID:2270156|PMID:22701567|PMID:22704848|PMID:22831748|PMID:22958899|PMID:23275527|PMID:23667671|PMID:24018988|PMID:24401662|PMID:2462236|PMID:24622368|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26509005|PMID:27033559|PMID:27908292|PMID:28123437|PMID:28347637|PMID:28492532|PMID:28587604|PMID:28925365|PMID:29893194|PMID:30026763|PMID:30297969|PMID:30377186|PMID:31291970|PMID:31464105|PMID:32027066|PMID:32101525|PMID:32893419|PMID:32935446|PMID:33538814|PMID:33853507|PMID:34737607|PMID:35114785|PMID:35402560|PMID:35612844|PMID:37664823|PMID:9867219
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:10763	hypertension		ISO	RGD:69247	D	RGD:9068941	20200609	RGD			PMID:15964031|REF_RGD_ID:1598644
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:11446	sciatic neuropathy		ISO	RGD:69247	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dorsal root ganglion	PMID:17108688|REF_RGD_ID:7297043
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:15562009|PMID:15580558|PMID:15718250|PMID:16357843|PMID:22701567|PMID:25741868|PMID:26448950|PMID:32935446
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:11716	prediabetes syndrome		ISO	RGD:69247	D	RGD:9068941	20200609	RGD		associated with Obesity;protein:decreased expression:hypothalamus	PMID:18001323|REF_RGD_ID:2311538
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:11717	neonatal diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neonatal Diabetes Mellitus | ClinVar Annotator: match by term: Neonatal diabetes mellitus	PMID:10338089|PMID:12524280|PMID:15115830|PMID:15504982|PMID:15580558|PMID:15583126|PMID:15718250|PMID:16123337|PMID:16731837|PMID:17021801|PMID:17327377|PMID:17446535|PMID:17490422|PMID:18414213|PMID:20301620|PMID:22471336|PMID:2270156|PMID:22701567|PMID:22768671|PMID:23667671|PMID:2462236|PMID:24622368|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26958039|PMID:27033559|PMID:27681997|PMID:28347637|PMID:28492532|PMID:28587604|PMID:28925365|PMID:31291970|PMID:32027066|PMID:32101525|PMID:32893419|PMID:33538814|PMID:34566892|PMID:35114785|PMID:35612844|PMID:37664823|PMID:41874548|PMID:8897013
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:11832	visual epilepsy		ISO	RGD:69098	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:18021373
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:13317	hyperinsulinemic hypoglycemia		ISO	RGD:69098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT	PMID:10559219|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14551916|PMID:15111507|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:15886397|PMID:16357843|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18290324|PMID:18414213|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:21119644|PMID:21544516|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22831748|PMID:22958899|PMID:23275527|PMID:24018988|PMID:24401662|PMID:25741868|PMID:26448950|PMID:26467025|PMID:27908292|PMID:28123437|PMID:28492532|PMID:29893194|PMID:31291970|PMID:32935446|PMID:33853507|PMID:35402560|PMID:9867219
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:1824	status epilepticus		ISO	RGD:69247	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus	PMID:22050960|REF_RGD_ID:5686281
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:1826	epilepsy		ISO	RGD:69247	D	RGD:9068941	20241107	RGD			PMID:18021373|REF_RGD_ID:2301911
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:1837	diabetic ketoacidosis		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetic ketoacidosis	PMID:17021801|PMID:17327377|PMID:18414213|PMID:18559200|PMID:22619292|PMID:23462667|PMID:25741868|PMID:26839896|PMID:28350539|PMID:28492532|PMID:28766502|PMID:32418263|PMID:32792356|PMID:33852230|PMID:34566892
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:2018	hyperinsulinism		ISO	RGD:69098	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive	PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15448106|PMID:15504982|PMID:15531505|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15797964|PMID:15838686|PMID:15855351|PMID:16123337|PMID:16205880|PMID:16416420|PMID:16455067|PMID:16609879|PMID:16670688|PMID:16731837|PMID:16885549|PMID:16885550|PMID:17065345|PMID:17257281|PMID:17316607|PMID:17327377|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17823772|PMID:17901525|PMID:18414213|PMID:18596924|PMID:18662362|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20022885|PMID:20032456|PMID:20049716|PMID:20220270|PMID:20301620|PMID:20424228|PMID:20466780|PMID:20589481|PMID:20685672|PMID:20980454|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22471336|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22768671|PMID:23700433|PMID:24068186|PMID:24383515|PMID:24434300|PMID:24622368|PMID:24698822|PMID:25308342|PMID:25639667|PMID:25741868|PMID:25871929|PMID:26448950|PMID:26467025|PMID:26740944|PMID:26839896|PMID:26958039|PMID:27173951|PMID:27181376|PMID:27681997|PMID:28480665|PMID:28492532|PMID:28938416|PMID:29893194|PMID:32027066|PMID:32893419|PMID:32935446|PMID:33046911|PMID:33987715|PMID:36208030|PMID:9867219
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:2018	hyperinsulinism		ISO	RGD:69098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism	PMID:25741868|PMID:27173951|PMID:27181376|PMID:28492532|PMID:32027066|PMID:33046911
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:69098	D	RGD:8554872	20260310	ClinVar		ClinVar Annotator: match by term: Atopic eczema	
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:3310	atopic dermatitis		ISO	RGD:69098	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Atopic eczema	
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:539	ophthalmoplegia		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ophthalmoparesis	PMID:25741868
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:630	genetic disease		ISO	RGD:69098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15580558|PMID:15718250|PMID:22701567|PMID:25741868|PMID:26448950|PMID:28492532|PMID:32935446
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:767	muscular atrophy		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25741868
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9000343	Vision Disorders		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9000495	Tremor		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Resting tremor	PMID:25741868
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9002261	Permanent Neonatal Diabetes Mellitus 1		ISO	RGD:69098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus 1	PMID:10559219|PMID:15562009|PMID:15580558|PMID:15718250|PMID:15886397|PMID:16357843|PMID:18414213|PMID:21119644|PMID:21544516|PMID:22701567|PMID:22831748|PMID:23275527|PMID:24018988|PMID:24401662|PMID:25741868|PMID:26448950|PMID:26467025|PMID:27118464|PMID:27908292|PMID:28123437|PMID:28492532|PMID:30377186|PMID:32027066|PMID:32935446
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:69099	D	RGD:9068941	20200609	RGD			PMID:18802029|REF_RGD_ID:7297042
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9004866	Ataxia		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9005532	Muscle Weakness		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69098	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69247	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:23785408|REF_RGD_ID:7296920
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:69098	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:17635943|PMID:18073297|PMID:20301620|PMID:21340152|PMID:27223594|PMID:28492532|PMID:30286572
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:69247	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney	PMID:21250976|REF_RGD_ID:7297045
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9006240	Permanent Neonatal Diabetes Mellitus 2		ISO	RGD:69098	D	RGD:7240710	20241002	OMIM			
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9006240	Permanent Neonatal Diabetes Mellitus 2		ISO	RGD:69098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DIABETES MELLITUS, PERMANENT NEONATAL, 2 | ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 2	PMID:10559219|PMID:11872696|PMID:12475776|PMID:12524280|PMID:14715863|PMID:15115830|PMID:15562009|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15855351|PMID:16123337|PMID:16357843|PMID:16416420|PMID:16670688|PMID:16731837|PMID:17021801|PMID:17257281|PMID:17327377|PMID:17491708|PMID:17652641|PMID:17728498|PMID:18073297|PMID:18414213|PMID:18559200|PMID:19139106|PMID:20301620|PMID:21340152|PMID:22619292|PMID:22701567|PMID:22768671|PMID:22831748|PMID:22958899|PMID:23275527|PMID:23345197|PMID:23462667|PMID:24018988|PMID:24401662|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26839896|PMID:26958039|PMID:27681997|PMID:27908292|PMID:28123437|PMID:28350539|PMID:28492532|PMID:28766502|PMID:30286572|PMID:31291970|PMID:32027066|PMID:32418263|PMID:32792356|PMID:32893419|PMID:32935446|PMID:33852230|PMID:33853507|PMID:34566892
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9006828	Congenital Hyperinsulinism		ISO	RGD:69098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism | ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL	PMID:10559219|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14551916|PMID:15111507|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:15886397|PMID:16357843|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18250167|PMID:18290324|PMID:18414213|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:20685672|PMID:21119644|PMID:21544516|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22831748|PMID:22958899|PMID:23275527|PMID:24018988|PMID:24401662|PMID:25201519|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:27908292|PMID:28123437|PMID:28492532|PMID:29893194|PMID:30026763|PMID:31291970|PMID:31464105|PMID:32935446|PMID:33853507|PMID:35402560|PMID:36227502|PMID:39190464|PMID:9867219
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:69247	D	RGD:9068941	20200609	RGD			PMID:26591689|REF_RGD_ID:12790977
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9007447	Developmental Delay, Epilepsy, and Neonatal Diabetes		ISO	RGD:69098	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: DEND syndrome	PMID:15580558|PMID:15718250|PMID:25741868|PMID:26448950
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9007661	Dwarfism		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:17021801|PMID:17327377|PMID:18414213|PMID:18559200|PMID:22619292|PMID:23462667|PMID:25741868|PMID:26839896|PMID:28350539|PMID:28492532|PMID:28766502|PMID:32418263|PMID:32792356|PMID:33852230|PMID:34566892
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9007692	Insulin Resistance		ISO	RGD:69098	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9032110
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:69099	D	RGD:9068941	20200609	RGD			PMID:17906066|REF_RGD_ID:7297046
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:913	atrophic muscular disease		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal lower limb amyotrophy	PMID:25741868
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9351	diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diabetes | ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes	PMID:10049691|PMID:12213829|PMID:12524280|PMID:14715863|PMID:15115830|PMID:15448107|PMID:15561897|PMID:15562009|PMID:15580558|PMID:15583126|PMID:15718250|PMID:16019717|PMID:16075046|PMID:16123337|PMID:16249427|PMID:16268330|PMID:16357843|PMID:16416420|PMID:16609879|PMID:16636122|PMID:16731833|PMID:16731837|PMID:16885550|PMID:17021801|PMID:17296510|PMID:17327377|PMID:17349054|PMID:17446535|PMID:17490422|PMID:17635943|PMID:17673911|PMID:17919178|PMID:18250167|PMID:18414213|PMID:18436707|PMID:18559200|PMID:18662362|PMID:18767144|PMID:20301620|PMID:20685672|PMID:21115269|PMID:21352428|PMID:21544516|PMID:21682153|PMID:22471336|PMID:22619292|PMID:2270156|PMID:22701567|PMID:22749773|PMID:22768671|PMID:23275527|PMID:23345197|PMID:23462667|PMID:23667671|PMID:2462236|PMID:24622368|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26839896|PMID:26958039|PMID:27033559|PMID:27681997|PMID:28347637|PMID:28350539|PMID:28492532|PMID:28587604|PMID:28766502|PMID:28787272|PMID:28925365|PMID:31291970|PMID:32027066|PMID:32101525|PMID:32418263|PMID:32792356|PMID:32893419|PMID:32935446|PMID:33409956|PMID:33538814|PMID:33852230|PMID:34566892|PMID:35114785|PMID:35612844|PMID:37664823|PMID:9831713
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15448107|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15855351|PMID:15998776|PMID:16166157|PMID:16332676|PMID:16455067|PMID:16670688|PMID:17021801|PMID:17114887|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17673911|PMID:17823772|PMID:17956278|PMID:18250167|PMID:18414213|PMID:18559200|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20685672|PMID:21115269|PMID:21573802|PMID:21765448|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22311976|PMID:22512215|PMID:22591706|PMID:22619292|PMID:22701567|PMID:22704848|PMID:22958899|PMID:23275527|PMID:23345197|PMID:23462667|PMID:24401662|PMID:24421282|PMID:24434300|PMID:24686051|PMID:25201519|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25741914|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26839896|PMID:27118464|PMID:27181376|PMID:27188453|PMID:27908292|PMID:28173619|PMID:28262438|PMID:28270372|PMID:28350539|PMID:28352326|PMID:28492532|PMID:28766502|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:30377186|PMID:31195986|PMID:31218401|PMID:32418263|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33762279|PMID:33852230|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:9867219
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus	PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:1422196|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15448107|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15855351|PMID:15998776|PMID:16166157|PMID:16332676|PMID:16455067|PMID:16670688|PMID:17021801|PMID:17114887|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17673911|PMID:17823772|PMID:17956278|PMID:18250167|PMID:18414213|PMID:18559200|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20685672|PMID:20686794|PMID:20980454|PMID:21115269|PMID:21573802|PMID:21765448|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22311976|PMID:22512215|PMID:22591706|PMID:22619292|PMID:22701567|PMID:22704848|PMID:22958899|PMID:23226049|PMID:23275527|PMID:23345197|PMID:23462667|PMID:24383515|PMID:24401662|PMID:24421282|PMID:24434300|PMID:24686051|PMID:25201519|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26839896|PMID:27118464|PMID:27181376|PMID:27188453|PMID:27908292|PMID:28173619|PMID:28262438|PMID:28270372|PMID:28350539|PMID:28352326|PMID:28442472|PMID:28492532|PMID:28766502|PMID:28938416|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:30377186|PMID:31195986|PMID:31218401|PMID:32418263|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33762279|PMID:33852230|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:36208030|PMID:9867219
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:1422196|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15448107|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15855351|PMID:15998776|PMID:16166157|PMID:16332676|PMID:16455067|PMID:16670688|PMID:17021801|PMID:17114887|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17673911|PMID:17823772|PMID:17956278|PMID:18250167|PMID:18414213|PMID:18559200|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20685672|PMID:20686794|PMID:20980454|PMID:21115269|PMID:21573802|PMID:21765448|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22311976|PMID:22512215|PMID:22591706|PMID:22619292|PMID:22701567|PMID:22704848|PMID:22958899|PMID:23226049|PMID:23275527|PMID:23345197|PMID:23462667|PMID:24383515|PMID:24401662|PMID:24421282|PMID:24434300|PMID:24686051|PMID:25201519|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26839896|PMID:27118464|PMID:27181376|PMID:27188453|PMID:27908292|PMID:28173619|PMID:28262438|PMID:28270372|PMID:28350539|PMID:28352326|PMID:28442472|PMID:28492532|PMID:28766502|PMID:28938416|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:30377186|PMID:31195986|PMID:31218401|PMID:32027066|PMID:32418263|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33762279|PMID:33852230|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:36208030|PMID:9867219
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus	PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:1422196|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15448107|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15855351|PMID:15998776|PMID:16166157|PMID:16332676|PMID:16455067|PMID:16670688|PMID:17021801|PMID:17114887|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17673911|PMID:17823772|PMID:17956278|PMID:18250167|PMID:18414213|PMID:18559200|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20685672|PMID:20686794|PMID:20980454|PMID:21115269|PMID:21573802|PMID:21765448|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22311976|PMID:22512215|PMID:22591706|PMID:22619292|PMID:22701567|PMID:22704848|PMID:22831748|PMID:22958899|PMID:23226049|PMID:23275527|PMID:23345197|PMID:23462667|PMID:24383515|PMID:24401662|PMID:24421282|PMID:24434300|PMID:24686051|PMID:25201519|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26839896|PMID:27118464|PMID:27181376|PMID:27188453|PMID:27908292|PMID:28173619|PMID:28262438|PMID:28270372|PMID:28350539|PMID:28352326|PMID:28442472|PMID:28492532|PMID:28766502|PMID:28938416|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:30377186|PMID:31195986|PMID:31218401|PMID:32027066|PMID:32418263|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33762279|PMID:33852230|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:36208030|PMID:9867219
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10559219|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:1422196|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15448107|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15855351|PMID:15998776|PMID:16166157|PMID:16332676|PMID:16357843|PMID:16455067|PMID:16670688|PMID:17021801|PMID:17114887|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17673911|PMID:17823772|PMID:17956278|PMID:18250167|PMID:18414213|PMID:18559200|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20685672|PMID:20686794|PMID:20980454|PMID:21115269|PMID:21573802|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22311976|PMID:22512215|PMID:22591706|PMID:22619292|PMID:22701567|PMID:22704848|PMID:22831748|PMID:22958899|PMID:23226049|PMID:23275527|PMID:23345197|PMID:23462667|PMID:24383515|PMID:24401662|PMID:24421282|PMID:24434300|PMID:24686051|PMID:25201519|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26590798|PMID:26839896|PMID:27118464|PMID:27181376|PMID:27188453|PMID:27908292|PMID:28123437|PMID:28173619|PMID:28262438|PMID:28270372|PMID:28350539|PMID:28352326|PMID:28442472|PMID:28492532|PMID:28766502|PMID:28938416|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:30377186|PMID:31195986|PMID:31218401|PMID:32027066|PMID:32418263|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33502061|PMID:33611546|PMID:33762279|PMID:33852230|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:36208030|PMID:9867219
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus	PMID:10559219|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16166157|PMID:16357843|PMID:16455067|PMID:17021801|PMID:17257281|PMID:17327377|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18559200|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:21573802|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22619292|PMID:22701567|PMID:22704848|PMID:22831748|PMID:22958899|PMID:23275527|PMID:23462667|PMID:24018988|PMID:24401662|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26839896|PMID:27118464|PMID:27908292|PMID:28123437|PMID:28173619|PMID:28262438|PMID:28350539|PMID:28492532|PMID:28766502|PMID:29454299|PMID:29893194|PMID:30377186|PMID:30386300|PMID:31195986|PMID:31291970|PMID:32027066|PMID:32418263|PMID:32792356|PMID:32935446|PMID:33852230|PMID:33853507|PMID:34566892|PMID:35402560|PMID:36208030|PMID:9867219
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9452	steatotic liver disease		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:15562009|PMID:15580558|PMID:15718250|PMID:16357843|PMID:22701567|PMID:25741868|PMID:26448950|PMID:32935446
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: neonatal insulin-dependent diabetes mellitus	PMID:15448107|PMID:17446535|PMID:18414213|PMID:20301620|PMID:25741868|PMID:28492532|PMID:29361385|PMID:32792356
8830632	Kcnj11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9993	hypoglycemia		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:27908292|PMID:31464105
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:0060793	hypomyelinating leukodystrophy 5		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract	PMID:25741868
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868|PMID:35176428
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:0080865	primary ovarian insufficiency 8		ISO	RGD:737601	D	RGD:7240710	20180130	OMIM			
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:0080865	primary ovarian insufficiency 8		ISO	RGD:737601	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 8 | ClinVar Annotator: match by term: PRIMARY OVARIAN FAILURE 8 | ClinVar Annotator: match by term: Premature ovarian failure 8 | ClinVar Annotator: match by term: STAG3-related condition	PMID:25741868
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:0112350	spermatogenic failure 61		ISO	RGD:737601	D	RGD:7240710	20211222	OMIM			
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:0112350	spermatogenic failure 61		ISO	RGD:737601	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 61 | ClinVar Annotator: match by term: Spermatogenic failure 61	PMID:25741868
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:10534	stomach cancer		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:1115	sarcoma		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:1324	lung cancer		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:1909	melanoma		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:1924	hypogonadism		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypergonadotropic hypogonadism	PMID:25741868
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:3070	high grade glioma		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:4362	cervical cancer		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:6039	uveal melanoma		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:630	genetic disease		ISO	RGD:737601	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8830658	Stag3	STAG3 cohesin complex component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8830697	Bsph1	binder of sperm protein homolog 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:2306586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8830705	Tmx1	thioredoxin related transmembrane protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8830705	Tmx1	thioredoxin related transmembrane protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8830705	Tmx1	thioredoxin related transmembrane protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1318232	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8830705	Tmx1	thioredoxin related transmembrane protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8830705	Tmx1	thioredoxin related transmembrane protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8830705	Tmx1	thioredoxin related transmembrane protein 1	gene	DOID:1909	melanoma		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8830705	Tmx1	thioredoxin related transmembrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830705	Tmx1	thioredoxin related transmembrane protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8830705	Tmx1	thioredoxin related transmembrane protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8830705	Tmx1	thioredoxin related transmembrane protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8830727	Mphosph10	M-phase phosphoprotein 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8830727	Mphosph10	M-phase phosphoprotein 10	gene	DOID:10534	stomach cancer		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8830727	Mphosph10	M-phase phosphoprotein 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8830727	Mphosph10	M-phase phosphoprotein 10	gene	DOID:1324	lung cancer		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8830727	Mphosph10	M-phase phosphoprotein 10	gene	DOID:2394	ovarian cancer		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8830727	Mphosph10	M-phase phosphoprotein 10	gene	DOID:4362	cervical cancer		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8830727	Mphosph10	M-phase phosphoprotein 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8830727	Mphosph10	M-phase phosphoprotein 10	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8830727	Mphosph10	M-phase phosphoprotein 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8830727	Mphosph10	M-phase phosphoprotein 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8830743	Gramd2b	GRAM domain containing 2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8830743	Gramd2b	GRAM domain containing 2B	gene	DOID:1115	sarcoma		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8830743	Gramd2b	GRAM domain containing 2B	gene	DOID:1324	lung cancer		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8830743	Gramd2b	GRAM domain containing 2B	gene	DOID:1909	melanoma		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8830743	Gramd2b	GRAM domain containing 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8830743	Gramd2b	GRAM domain containing 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604604	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8830743	Gramd2b	GRAM domain containing 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830743	Gramd2b	GRAM domain containing 2B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8830743	Gramd2b	GRAM domain containing 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8830776	Mbnl2	muscleblind like splicing regulator 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8830776	Mbnl2	muscleblind like splicing regulator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8830776	Mbnl2	muscleblind like splicing regulator 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8830776	Mbnl2	muscleblind like splicing regulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830818	Glra2	glycine receptor alpha 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8830818	Glra2	glycine receptor alpha 2	gene	DOID:0070422	syndromic X-linked intellectual disability Pilorge type		ISO	RGD:731909	D	RGD:7240710	20220427	OMIM			
8830818	Glra2	glycine receptor alpha 2	gene	DOID:0070422	syndromic X-linked intellectual disability Pilorge type		ISO	RGD:731909	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type	PMID:25741868|PMID:28492532|PMID:35294868|PMID:35396272|PMID:40227176
8830818	Glra2	glycine receptor alpha 2	gene	DOID:0080338	familial erythrocytosis 3		ISO	RGD:731909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GLRA2-related condition	
8830818	Glra2	glycine receptor alpha 2	gene	DOID:1115	sarcoma		ISO	RGD:731909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8830818	Glra2	glycine receptor alpha 2	gene	DOID:11830	myopia		ISO	RGD:731909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
8830818	Glra2	glycine receptor alpha 2	gene	DOID:5041	esophageal cancer		ISO	RGD:731909	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8830818	Glra2	glycine receptor alpha 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830818	Glra2	glycine receptor alpha 2	gene	DOID:630	genetic disease		ISO	RGD:731909	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8830818	Glra2	glycine receptor alpha 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8830836	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8830836	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:10534	stomach cancer		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8830836	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8830836	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:4362	cervical cancer		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8830836	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1321999	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8830836	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830836	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8830836	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8830836	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8830836	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8830836	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8830836	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8830836	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8830862	Eola1	endothelium and lymphocyte associated ASCH domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8830862	Eola1	endothelium and lymphocyte associated ASCH domain 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1344025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inherited ovarian cancer (without breast cancer)	
8830862	Eola1	endothelium and lymphocyte associated ASCH domain 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8830862	Eola1	endothelium and lymphocyte associated ASCH domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830862	Eola1	endothelium and lymphocyte associated ASCH domain 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344025	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8830862	Eola1	endothelium and lymphocyte associated ASCH domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8830862	Eola1	endothelium and lymphocyte associated ASCH domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8830875	Rfng	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8830875	Rfng	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1345692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8830875	Rfng	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8830875	Rfng	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1345692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8830875	Rfng	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1345692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8830875	Rfng	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8830875	Rfng	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830875	Rfng	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345692	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8830875	Rfng	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:9004657	Weight Gain		ISO	RGD:1345692	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8830875	Rfng	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8830875	Rfng	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8830875	Rfng	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8830887	Dnajc3	DnaJ heat shock protein family (Hsp40) member C3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8830887	Dnajc3	DnaJ heat shock protein family (Hsp40) member C3	gene	DOID:1324	lung cancer		ISO	RGD:1347817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8830887	Dnajc3	DnaJ heat shock protein family (Hsp40) member C3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8830887	Dnajc3	DnaJ heat shock protein family (Hsp40) member C3	gene	DOID:3070	high grade glioma		ISO	RGD:1347817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8830887	Dnajc3	DnaJ heat shock protein family (Hsp40) member C3	gene	DOID:4362	cervical cancer		ISO	RGD:1347817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8830887	Dnajc3	DnaJ heat shock protein family (Hsp40) member C3	gene	DOID:630	genetic disease		ISO	RGD:1347817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8830887	Dnajc3	DnaJ heat shock protein family (Hsp40) member C3	gene	DOID:9000609	Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus		ISO	RGD:1347817	D	RGD:7240710	20180130	OMIM			
8830887	Dnajc3	DnaJ heat shock protein family (Hsp40) member C3	gene	DOID:9000609	Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus		ISO	RGD:1347817	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS | ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | ClinVar Annotator: match by term: DNAJC3-related condition	PMID:25741868|PMID:28492532
8830887	Dnajc3	DnaJ heat shock protein family (Hsp40) member C3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1347817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8830887	Dnajc3	DnaJ heat shock protein family (Hsp40) member C3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8830887	Dnajc3	DnaJ heat shock protein family (Hsp40) member C3	gene	DOID:9351	diabetes mellitus		ISO	RGD:1347817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	
8830919	Cripto	cripto, EGF-CFC family member	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1352791	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11062482
8830919	Cripto	cripto, EGF-CFC family member	gene	DOID:14330	Parkinson's disease	treatment	ISO	RGD:1617601	D	RGD:9068941	20200609	RGD			PMID:20641036|REF_RGD_ID:11561895
8830919	Cripto	cripto, EGF-CFC family member	gene	DOID:1682	congenital heart disease		ISO	RGD:1352791	D	RGD:9068941	20200609	RGD		DNA:mutations:3'UTR,exons:	PMID:19853938|REF_RGD_ID:11561893
8830919	Cripto	cripto, EGF-CFC family member	gene	DOID:219	colon cancer	treatment	ISO	RGD:1352791	D	RGD:9068941	20200609	RGD			PMID:15173016|REF_RGD_ID:11561894
8830919	Cripto	cripto, EGF-CFC family member	gene	DOID:2394	ovarian cancer		ISO	RGD:1352791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8830919	Cripto	cripto, EGF-CFC family member	gene	DOID:3307	teratoma	treatment	ISO	RGD:1617601	D	RGD:9068941	20200609	RGD			PMID:20641036|REF_RGD_ID:11561895
8830919	Cripto	cripto, EGF-CFC family member	gene	DOID:4621	holoprosencephaly		ISO	RGD:1352791	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12073012
8830929	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314765	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8830929	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1314765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar Annotator: match by term: lamellar ichthyosis	PMID:11773004|PMID:16116617|PMID:19131948|PMID:19890349|PMID:22622417|PMID:24033266|PMID:25741868|PMID:25998749|PMID:26370990|PMID:26762237|PMID:27025581|PMID:28492532|PMID:29130490|PMID:29935003|PMID:31168818|PMID:35734965
8830929	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:0060656	autosomal recessive congenital ichthyosis 1		ISO	RGD:1314765	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21739938
8830929	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:0060656	autosomal recessive congenital ichthyosis 1	susceptibility	ISO	RGD:1314765	D	RGD:9068941	20200609	RGD			PMID:11773004|REF_RGD_ID:1599073
8830929	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:0060710	autosomal recessive congenital ichthyosis 2		ISO	RGD:1314765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosiform Erythroderma, Congenital, Nonbullous, 1	PMID:25741868|PMID:26762237|PMID:28492532|PMID:30578701|PMID:31168818|PMID:33435499
8830929	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:0060711	autosomal recessive congenital ichthyosis 3		ISO	RGD:1314765	D	RGD:7240710	20180130	OMIM			
8830929	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:0060711	autosomal recessive congenital ichthyosis 3		ISO	RGD:1314765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: ALOXE3-related condition | ClinVar Annotator: match by term: ARCI3 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 | ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: ICHTHYOSIS, LAMELLAR, 5	PMID:11773004|PMID:16116617|PMID:16199547|PMID:17576681|PMID:19131948|PMID:19890349|PMID:21668430|PMID:22622417|PMID:24033266|PMID:25741868|PMID:25998749|PMID:26274329|PMID:26370990|PMID:26578203|PMID:26762237|PMID:27025581|PMID:28492532|PMID:30270455|PMID:32978145|PMID:33435499|PMID:33786896|PMID:9536098
8830929	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:1059	intellectual disability		ISO	RGD:1314765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:16116617|PMID:19131948|PMID:19890349|PMID:22622417|PMID:24033266|PMID:25741868|PMID:25998749|PMID:26370990|PMID:26762237|PMID:27025581|PMID:28492532
8830929	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:11155	hypohidrosis		ISO	RGD:1314765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	
8830929	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:1324	lung cancer		ISO	RGD:1314765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8830929	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:3144	cutis laxa		ISO	RGD:1314765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	
8830929	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1314765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8830929	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:630	genetic disease		ISO	RGD:1314765	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:34851365
8830929	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:9002189	High Myopia		ISO	RGD:1314765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:16116617|PMID:19131948|PMID:19890349|PMID:22622417|PMID:24033266|PMID:25741868|PMID:25998749|PMID:26370990|PMID:26762237|PMID:27025581|PMID:28492532
8830929	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314765	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22919386
8830929	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:9003816	Macrocephaly		ISO	RGD:1314765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:16116617|PMID:19131948|PMID:19890349|PMID:22622417|PMID:24033266|PMID:25741868|PMID:25998749|PMID:26370990|PMID:26762237|PMID:27025581|PMID:28492532
8830929	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:9006202	Pruritus		ISO	RGD:1314765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pruritus	PMID:16116617|PMID:19131948|PMID:19890349|PMID:22622417|PMID:24033266|PMID:25741868|PMID:25998749|PMID:26370990|PMID:26762237|PMID:27025581|PMID:28492532
8830929	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:9006290	Central Nervous System Venous Angioma		ISO	RGD:1314765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cerebral venous angioma	PMID:16116617|PMID:19131948|PMID:19890349|PMID:22622417|PMID:24033266|PMID:25741868|PMID:25998749|PMID:26370990|PMID:26762237|PMID:27025581|PMID:28492532
8830929	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8830929	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16116617|PMID:19131948|PMID:19890349|PMID:22622417|PMID:24033266|PMID:25741868|PMID:25998749|PMID:26370990|PMID:26762237|PMID:27025581|PMID:28492532
8830929	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1314765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:16116617|PMID:19131948|PMID:19890349|PMID:22622417|PMID:24033266|PMID:25741868|PMID:25998749|PMID:26370990|PMID:26762237|PMID:27025581|PMID:28492532
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1350605	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26507003
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1350605	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:urinary bladder	PMID:17205510|REF_RGD_ID:2292435
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:3070	high grade glioma		ISO	RGD:1350605	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506701
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:3275	thymoma		ISO	RGD:1350605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:3308	embryonal carcinoma		ISO	RGD:1350605	D	RGD:9068941	20200609	RGD			PMID:18045648|REF_RGD_ID:2292431
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:3308	embryonal carcinoma		ISO	RGD:1350605	D	RGD:9068941	20200609	RGD		DNA:hypomethylation:promoter	PMID:17549357|REF_RGD_ID:2292433
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:3590	gestational trophoblastic neoplasm		ISO	RGD:1350605	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18440631
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:4440	seminoma		ISO	RGD:1350605	D	RGD:9068941	20200609	RGD		DNA:hypomethylation:promoter	PMID:17549357|REF_RGD_ID:2292433
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:4440	seminoma		ISO	RGD:1350605	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:testis	PMID:17785371|REF_RGD_ID:2292432
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:4440	seminoma		ISO	RGD:1350605	D	RGD:9068941	20200609	RGD		protein:increased expression:chest	PMID:18162782|REF_RGD_ID:2292429
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:4441	dysgerminoma		ISO	RGD:1350605	D	RGD:9068941	20200609	RGD			PMID:15371950|REF_RGD_ID:2292443
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1350605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:670	amphetamine abuse		ISO	RGD:1350605	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:8719	in situ carcinoma		ISO	RGD:1350605	D	RGD:9068941	20200609	RGD		associated with Testicular Neoplasms;protein:increased expression:semen	PMID:17996359|REF_RGD_ID:2292428
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1350605	D	RGD:9068941	20200609	RGD		associated with Seminoma; associated with Carcinoma, Embryonal	PMID:15386301|REF_RGD_ID:2292442
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:1350605	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16168501
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1350605	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506701
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1350605	D	RGD:9068941	20200609	RGD			PMID:17413979|REF_RGD_ID:2292434
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1350605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:9007702	Carcinogenesis		ISO	RGD:1350605	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506701
8830969	Pou5f1	POU class 5 homeobox 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8830979	Cep43	centrosomal protein 43	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8830979	Cep43	centrosomal protein 43	gene	DOID:10534	stomach cancer		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8830979	Cep43	centrosomal protein 43	gene	DOID:1324	lung cancer		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8830979	Cep43	centrosomal protein 43	gene	DOID:1909	melanoma		ISO	RGD:1313011	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
8830979	Cep43	centrosomal protein 43	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8830979	Cep43	centrosomal protein 43	gene	DOID:2394	ovarian cancer		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8830979	Cep43	centrosomal protein 43	gene	DOID:4362	cervical cancer		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8830979	Cep43	centrosomal protein 43	gene	DOID:5041	esophageal cancer		ISO	RGD:1313011	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8830979	Cep43	centrosomal protein 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8830979	Cep43	centrosomal protein 43	gene	DOID:6039	uveal melanoma		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8830979	Cep43	centrosomal protein 43	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8830979	Cep43	centrosomal protein 43	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8830979	Cep43	centrosomal protein 43	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8830979	Cep43	centrosomal protein 43	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8830979	Cep43	centrosomal protein 43	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8831014	JAK2	Janus kinase 2	gene	DOID:3571	liver cancer	severity	ISO	RGD:731748	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver,serum (human)	PMID:27788478|REF_RGD_ID:18182929
8831014	Jak2	Janus kinase 2	gene	DOID:0051061	stroke		ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:18079966|REF_RGD_ID:6483032
8831014	Jak2	Janus kinase 2	gene	DOID:0060474	familial erythrocytosis 2		ISO	RGD:10823	D	RGD:9068941	20200609	RGD			PMID:21685897|REF_RGD_ID:6483049
8831014	Jak2	Janus kinase 2	gene	DOID:0060652	familial erythrocytosis 1		ISO	RGD:731748	D	RGD:7240710	20180130	OMIM			
8831014	Jak2	Janus kinase 2	gene	DOID:0060903	thrombosis		ISO	RGD:10823	D	RGD:9068941	20200609	RGD		associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F (human)	PMID:22467227|REF_RGD_ID:15039391
8831014	Jak2	Janus kinase 2	gene	DOID:0060903	thrombosis		ISO	RGD:2939	D	RGD:9068941	20200609	RGD		associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F (human)	PMID:22467227|REF_RGD_ID:15039391
8831014	Jak2	Janus kinase 2	gene	DOID:0060903	thrombosis		ISO	RGD:731748	D	RGD:9068941	20200609	RGD		associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F (human)	PMID:22467227|REF_RGD_ID:15039391
8831014	Jak2	Janus kinase 2	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:731748	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:22087750|PMID:29047144|PMID:35568132
8831014	Jak2	Janus kinase 2	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:731748	D	RGD:9068941	20250724	RGD		DNA:SNPs:introns: (rs12343867, rs10974944) (human)	PMID:23845539|REF_RGD_ID:10449376
8831014	Jak2	Janus kinase 2	gene	DOID:0070004	myeloid neoplasm	no_association	ISO	RGD:731748	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: (rs12342421) (human)	PMID:23845539|REF_RGD_ID:10449376
8831014	Jak2	Janus kinase 2	gene	DOID:0070004	myeloid neoplasm	severity	ISO	RGD:731748	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.V617F (human)	PMID:15858187|REF_RGD_ID:10449393
8831014	Jak2	Janus kinase 2	gene	DOID:0070113	Niemann-Pick disease type C1	treatment	ISO	RGD:10823	D	RGD:9068941	20200609	RGD			PMID:21176403|REF_RGD_ID:10403054
8831014	Jak2	Janus kinase 2	gene	DOID:0080199	colorectal carcinoma	treatment	ISO	RGD:2939	D	RGD:9068941	20210611	RGD			PMID:29229353|REF_RGD_ID:127284843
8831014	Jak2	Janus kinase 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:18782535|REF_RGD_ID:6483030
8831014	Jak2	Janus kinase 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28100771
8831014	Jak2	Janus kinase 2	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	ameliorates	ISO	RGD:10823	D	RGD:9068941	20210702	RGD			PMID:28100771|REF_RGD_ID:127285675
8831014	Jak2	Janus kinase 2	gene	DOID:0080600	COVID-19		ISO	RGD:731748	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8831014	Jak2	Janus kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:731748	D	RGD:9068941	20210528	RGD		associated with Helicobacter Infections; protein:increased expression:stomach (human)	PMID:24718681|REF_RGD_ID:126928128
8831014	Jak2	Janus kinase 2	gene	DOID:10534	stomach cancer	susceptibility	ISO	RGD:731748	D	RGD:9068941	20210528	RGD		DNA:SNPs:exon, promoter: (rs2230724, rs1887427) (human)	PMID:23717640|REF_RGD_ID:126925979
8831014	Jak2	Janus kinase 2	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:731748	D	RGD:9068941	20210625	RGD		human cells in mouse model	PMID:29408335|PMID:32106377|REF_RGD_ID:127284846|REF_RGD_ID:127284886
8831014	Jak2	Janus kinase 2	gene	DOID:10603	glucose intolerance	treatment	ISO	RGD:10823	D	RGD:9068941	20200609	RGD		associated with Alzheimer Disease	PMID:23223021|REF_RGD_ID:10403052
8831014	Jak2	Janus kinase 2	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:10823	D	RGD:9068941	20200609	RGD			PMID:18813209|REF_RGD_ID:10403051
8831014	Jak2	Janus kinase 2	gene	DOID:10762	portal hypertension	severity	ISO	RGD:10823	D	RGD:9068941	20200609	RGD		associated with liver cirrhosis	PMID:26385087|REF_RGD_ID:18337263
8831014	Jak2	Janus kinase 2	gene	DOID:10762	portal hypertension	severity	ISO	RGD:2939	D	RGD:9068941	20200609	RGD		associated with liver cirrhosis	PMID:26385087|REF_RGD_ID:18337263
8831014	Jak2	Janus kinase 2	gene	DOID:10762	portal hypertension	severity	ISO	RGD:731748	D	RGD:9068941	20200609	RGD		associated with liver cirrhosis	PMID:26385087|REF_RGD_ID:18337263
8831014	Jak2	Janus kinase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731748	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:36115647
8831014	Jak2	Janus kinase 2	gene	DOID:1107	esophageal carcinoma	treatment	ISO	RGD:731748	D	RGD:9068941	20210625	RGD		associated with Immune Deficiency Disease, human cells in mouse model	PMID:25724470|REF_RGD_ID:127285656
8831014	Jak2	Janus kinase 2	gene	DOID:114	heart disease	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD		associated with Shock, Septic	PMID:23404057|REF_RGD_ID:8694329
8831014	Jak2	Janus kinase 2	gene	DOID:11512	Budd-Chiari syndrome		ISO	RGD:731748	D	RGD:7240710	20180130	OMIM			
8831014	Jak2	Janus kinase 2	gene	DOID:1184	nephrotic syndrome		ISO	RGD:10823	D	RGD:9068941	20200609	RGD			PMID:17823504|REF_RGD_ID:6483037
8831014	Jak2	Janus kinase 2	gene	DOID:12236	primary biliary cholangitis	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:24619965|REF_RGD_ID:10403061
8831014	Jak2	Janus kinase 2	gene	DOID:1240	leukemia		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19636672
8831014	Jak2	Janus kinase 2	gene	DOID:1240	leukemia		ISO	RGD:731748	D	RGD:9068941	20200609	RGD		DNA:translocation: :	PMID:9326218|REF_RGD_ID:10450609
8831014	Jak2	Janus kinase 2	gene	DOID:13252	mesenteric vascular occlusion		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20434300
8831014	Jak2	Janus kinase 2	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:731748	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased tyrosine phosphorylation:liver	PMID:24619965|REF_RGD_ID:10403061
8831014	Jak2	Janus kinase 2	gene	DOID:1577	limited scleroderma		ISO	RGD:731748	D	RGD:9068941	20200609	RGD			PMID:20808962|REF_RGD_ID:4892610
8831014	Jak2	Janus kinase 2	gene	DOID:182	calcinosis		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
8831014	Jak2	Janus kinase 2	gene	DOID:1920	hyperuricemia	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:23442673|REF_RGD_ID:10411892
8831014	Jak2	Janus kinase 2	gene	DOID:1936	atherosclerosis		ISO	RGD:2939	D	RGD:9068941	20230615	RGD		associated with type 2 diabetes mellitus; mRNA, protein:increased expression, increased phosphorylation:aorta, blood serum (rat)	PMID:33889291|REF_RGD_ID:329849122
8831014	Jak2	Janus kinase 2	gene	DOID:219	colon cancer	treatment	ISO	RGD:2939	D	RGD:9068941	20210611	RGD			PMID:33360052|REF_RGD_ID:127229954
8831014	Jak2	Janus kinase 2	gene	DOID:2224	essential thrombocythemia		ISO	RGD:10823	D	RGD:9068941	20220825	MouseDO		OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521	
8831014	Jak2	Janus kinase 2	gene	DOID:2224	essential thrombocythemia		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15781101|PMID:15858187|PMID:16484586|PMID:16896569|PMID:19154659|PMID:19636672|PMID:20434300|PMID:21942426
8831014	Jak2	Janus kinase 2	gene	DOID:2224	essential thrombocythemia	severity	ISO	RGD:731748	D	RGD:9068941	20200609	RGD		DNA:mutation: :p.V617F (human)	PMID:23130336|REF_RGD_ID:10449178
8831014	Jak2	Janus kinase 2	gene	DOID:2226	myeloproliferative neoplasm		ISO	RGD:10823	D	RGD:9068941	20220825	MouseDO			
8831014	Jak2	Janus kinase 2	gene	DOID:2228	thrombocytosis		ISO	RGD:10823	D	RGD:9068941	20200609	RGD		associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F	PMID:22467227|REF_RGD_ID:15039391
8831014	Jak2	Janus kinase 2	gene	DOID:2228	thrombocytosis		ISO	RGD:2939	D	RGD:9068941	20200609	RGD		associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F	PMID:22467227|REF_RGD_ID:15039391
8831014	Jak2	Janus kinase 2	gene	DOID:2228	thrombocytosis		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19287382|PMID:19287384
8831014	Jak2	Janus kinase 2	gene	DOID:2228	thrombocytosis		ISO	RGD:731748	D	RGD:9068941	20200609	RGD		DNA:point mutations: :p.S755R, p.R938Q (human)	PMID:24398328|REF_RGD_ID:10449375
8831014	Jak2	Janus kinase 2	gene	DOID:2228	thrombocytosis		ISO	RGD:731748	D	RGD:9068941	20200609	RGD		associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F	PMID:22467227|REF_RGD_ID:15039391
8831014	Jak2	Janus kinase 2	gene	DOID:2228	thrombocytosis		ISO	RGD:731748	D	RGD:9068941	20200609	RGD		essential thrombocythemia, OMIM:187950; DNA:transversion:CDS:1849G>T, amino acid V617F	PMID:15781101|REF_RGD_ID:1627655
8831014	Jak2	Janus kinase 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:23764464|REF_RGD_ID:8694326
8831014	Jak2	Janus kinase 2	gene	DOID:234	colon adenocarcinoma	ameliorates	ISO	RGD:731748	D	RGD:9068941	20210625	RGD		human cells in mouse model	PMID:22050790|REF_RGD_ID:127285665
8831014	Jak2	Janus kinase 2	gene	DOID:234	colon adenocarcinoma	treatment	ISO	RGD:731748	D	RGD:9068941	20210409	RGD		Human cell in mouse model	PMID:32504672|REF_RGD_ID:125097526
8831014	Jak2	Janus kinase 2	gene	DOID:2355	anemia		ISO	RGD:10823	D	RGD:9068941	20200609	RGD			PMID:9590174|REF_RGD_ID:737719
8831014	Jak2	Janus kinase 2	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:10823	D	RGD:9068941	20210723	RGD		associated with Carcinoma, Lewis Lung, human cells in mouse model	PMID:31250048|REF_RGD_ID:149735351
8831014	Jak2	Janus kinase 2	gene	DOID:3571	liver cancer	severity	ISO	RGD:10823	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver,serum (human)	PMID:27788478|REF_RGD_ID:18182929
8831014	Jak2	Janus kinase 2	gene	DOID:3571	liver cancer	severity	ISO	RGD:2939	D	RGD:9068941	20200609	RGD		human cell line in a mouse model	PMID:27788478|REF_RGD_ID:18182929
8831014	Jak2	Janus kinase 2	gene	DOID:3748	esophagus squamous cell carcinoma	severity	ISO	RGD:731748	D	RGD:9068941	20210702	RGD		protein:increased phosphorylation:esophagus squamous epithelium (human)	PMID:32158193|REF_RGD_ID:127285669
8831014	Jak2	Janus kinase 2	gene	DOID:3905	lung carcinoma	treatment	ISO	RGD:731748	D	RGD:9068941	20210723	RGD		human cells in mouse model	PMID:26397387|REF_RGD_ID:11529462
8831014	Jak2	Janus kinase 2	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:731748	D	RGD:9068941	20210716	RGD		human cells in mouse model	PMID:21325979|PMID:25869210|REF_RGD_ID:149735332|REF_RGD_ID:149735342
8831014	Jak2	Janus kinase 2	gene	DOID:3910	lung adenocarcinoma	treatment	ISO	RGD:731748	D	RGD:9068941	20210716	RGD		human cells in mouse model	PMID:27025877|REF_RGD_ID:11574134
8831014	Jak2	Janus kinase 2	gene	DOID:4033	bacterial gastritis		ISO	RGD:731748	D	RGD:9068941	20210528	RGD		protein:increased expression:stomach (human)	PMID:24718681|REF_RGD_ID:126928128
8831014	Jak2	Janus kinase 2	gene	DOID:4079	heart valve disease		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
8831014	Jak2	Janus kinase 2	gene	DOID:4971	myelofibrosis		ISO	RGD:731748	D	RGD:7240710	20180130	OMIM			
8831014	Jak2	Janus kinase 2	gene	DOID:4971	myelofibrosis	treatment	ISO	RGD:731748	D	RGD:9068941	20200609	RGD			PMID:22796437|REF_RGD_ID:10449377
8831014	Jak2	Janus kinase 2	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:10823	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:26385087|REF_RGD_ID:18337263
8831014	Jak2	Janus kinase 2	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:2939	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:26385087|REF_RGD_ID:18337263
8831014	Jak2	Janus kinase 2	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:731748	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:26385087|REF_RGD_ID:18337263
8831014	Jak2	Janus kinase 2	gene	DOID:5327	retinal detachment		ISO	RGD:2939	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:retina	PMID:22251399|REF_RGD_ID:10411890
8831014	Jak2	Janus kinase 2	gene	DOID:5434	scrapie		ISO	RGD:10823	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:17897356|REF_RGD_ID:6483034
8831014	Jak2	Janus kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:731748	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2	PMID:25741868
8831014	Jak2	Janus kinase 2	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:2939	D	RGD:9068941	20200609	RGD		associated with Myocardial Reperfusion Injury	PMID:22749532|REF_RGD_ID:10403083
8831014	Jak2	Janus kinase 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:731748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8831014	Jak2	Janus kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:10823	D	RGD:9068941	20210625	RGD		associated with Diseases of the Aged and non-alcoholic fatty liver disease	PMID:31393852|REF_RGD_ID:127285655
8831014	Jak2	Janus kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:10823	D	RGD:9068941	20210625	RGD		protein:increased phosphorylation:liver (mouse)	PMID:22821478|REF_RGD_ID:127285621
8831014	Jak2	Janus kinase 2	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:10823	D	RGD:9068941	20210702	RGD		L-JAK2 KO	PMID:28100771|REF_RGD_ID:127285675
8831014	Jak2	Janus kinase 2	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:731748	D	RGD:9068941	20210528	RGD		protein:increased phosphorylation:liver (human)	PMID:22392353|REF_RGD_ID:125097525
8831014	Jak2	Janus kinase 2	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:10823	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (human)	PMID:25420511|REF_RGD_ID:18182928
8831014	Jak2	Janus kinase 2	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:2939	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (human)	PMID:25420511|REF_RGD_ID:18182928
8831014	Jak2	Janus kinase 2	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:731748	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (human)	PMID:25420511|REF_RGD_ID:18182928
8831014	Jak2	Janus kinase 2	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:2939	D	RGD:9068941	20210716	RGD			PMID:29486150|REF_RGD_ID:127285672
8831014	Jak2	Janus kinase 2	gene	DOID:7147	ankylosing spondylitis	susceptibility	ISO	RGD:731748	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human)	PMID:20627814|REF_RGD_ID:6483025
8831014	Jak2	Janus kinase 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:10823	D	RGD:9068941	20200609	RGD			PMID:21510883|REF_RGD_ID:6483024
8831014	Jak2	Janus kinase 2	gene	DOID:8432	polycythemia		ISO	RGD:10823	D	RGD:9068941	20250724	RGD			PMID:15793561|PMID:19413997|REF_RGD_ID:10449378|REF_RGD_ID:10449392
8831014	Jak2	Janus kinase 2	gene	DOID:8432	polycythemia		ISO	RGD:12101003	D	RGD:9068941	20250724	OMIA		Polycythemia	PMID:13610760|PMID:17424094|PMID:21320566|PMID:39965623|PMID:9348498|PMID:9528346
8831014	Jak2	Janus kinase 2	gene	DOID:8432	polycythemia		ISO	RGD:731748	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:17267906
8831014	Jak2	Janus kinase 2	gene	DOID:8577	ulcerative colitis		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20228799|PMID:21297633
8831014	Jak2	Janus kinase 2	gene	DOID:8577	ulcerative colitis		ISO	RGD:731748	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs10758669 (human)	PMID:22269120|REF_RGD_ID:6483020
8831014	Jak2	Janus kinase 2	gene	DOID:8778	Crohn's disease		ISO	RGD:731748	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs10758669 (human)	PMID:22269120|REF_RGD_ID:6483020
8831014	Jak2	Janus kinase 2	gene	DOID:8997	polycythemia vera		ISO	RGD:731748	D	RGD:7240710	20180130	OMIM			
8831014	Jak2	Janus kinase 2	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:23274522|REF_RGD_ID:10411896
8831014	Jak2	Janus kinase 2	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:2939	D	RGD:9068941	20220623	RGD			PMID:29572553|REF_RGD_ID:152995414
8831014	Jak2	Janus kinase 2	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29047144
8831014	Jak2	Janus kinase 2	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:731748	D	RGD:9068941	20210611	RGD		associated with stomach cancer, human cells in mouse model	PMID:28186964|REF_RGD_ID:127229952
8831014	Jak2	Janus kinase 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:21596098|REF_RGD_ID:6483023
8831014	Jak2	Janus kinase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:10823	D	RGD:9068941	20200609	RGD		protein:increased expression, increased tyrosine phosphorylation:liver	PMID:24619965|REF_RGD_ID:10403061
8831014	Jak2	Janus kinase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2939	D	RGD:9068941	20200609	RGD		protein:increased expression, increased tyrosine phosphorylation:liver	PMID:24619965|REF_RGD_ID:10403061
8831014	Jak2	Janus kinase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8831014	Jak2	Janus kinase 2	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28100771
8831014	Jak2	Janus kinase 2	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:22288937|REF_RGD_ID:10403073
8831014	Jak2	Janus kinase 2	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:22745068|REF_RGD_ID:10403082
8831014	Jak2	Janus kinase 2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:18636982|REF_RGD_ID:6483031
8831014	Jak2	Janus kinase 2	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:10823	D	RGD:9068941	20200609	RGD		associated with Diabetic Neuropathies	PMID:23511693|REF_RGD_ID:10403050
8831014	Jak2	Janus kinase 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
8831014	Jak2	Janus kinase 2	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:10823	D	RGD:9068941	20200609	RGD			PMID:22339472|REF_RGD_ID:10403066
8831014	Jak2	Janus kinase 2	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:22800927|PMID:23711144|REF_RGD_ID:10403074|REF_RGD_ID:10403081
8831014	Jak2	Janus kinase 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:10823	D	RGD:9068941	20200609	RGD			PMID:22066025|REF_RGD_ID:6483041
8831014	Jak2	Janus kinase 2	gene	DOID:9003121	Thromboembolism		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19636672
8831014	Jak2	Janus kinase 2	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17989398
8831014	Jak2	Janus kinase 2	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27470402
8831014	Jak2	Janus kinase 2	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20434300
8831014	Jak2	Janus kinase 2	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:731748	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype: :rs12342421, rs12343867 (human)	PMID:23845539|REF_RGD_ID:10449376
8831014	Jak2	Janus kinase 2	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:731748	D	RGD:9068941	20200609	RGD		DNA:mutation: :p.V617F (human)	PMID:17059429|REF_RGD_ID:10449391
8831014	Jak2	Janus kinase 2	gene	DOID:9003871	Venous Thrombosis	no_association	ISO	RGD:731748	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs10974944 (human)	PMID:23845539|REF_RGD_ID:10449376
8831014	Jak2	Janus kinase 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:10823	D	RGD:9068941	20200609	RGD			PMID:20440769|REF_RGD_ID:6483026
8831014	Jak2	Janus kinase 2	gene	DOID:9004276	Thrombocythemia 3		ISO	RGD:731748	D	RGD:7240710	20180130	OMIM			
8831014	Jak2	Janus kinase 2	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:24228589|REF_RGD_ID:10411888
8831014	Jak2	Janus kinase 2	gene	DOID:9004702	Pregnancy Complications		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19636672
8831014	Jak2	Janus kinase 2	gene	DOID:9005372	Inflammation		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20943775
8831014	Jak2	Janus kinase 2	gene	DOID:9006257	Growth Disorders		ISO	RGD:2939	D	RGD:9068941	20200609	RGD		associated with Renal Insufficiency, Chronic;protein:decreased expression:epiphyseal plate	PMID:23715123|REF_RGD_ID:10403065
8831014	Jak2	Janus kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:151355880	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868|PMID:28492532
8831014	Jak2	Janus kinase 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15746188|PMID:16214533
8831014	Jak2	Janus kinase 2	gene	DOID:9007346	Cachexia	treatment	ISO	RGD:10823	D	RGD:9068941	20210709	RGD		associated with colon adenocarcinoma	PMID:28489606|REF_RGD_ID:127285673
8831014	Jak2	Janus kinase 2	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:731748	D	RGD:9068941	20221103	CTD		CTD Direct Evidence: marker/mechanism	PMID:35568132
8831014	Jak2	Janus kinase 2	gene	DOID:9007755	Intestinal Reperfusion Injury		ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:22777122|REF_RGD_ID:10403072
8831014	Jak2	Janus kinase 2	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:23796350|REF_RGD_ID:8694332
8831014	Jak2	Janus kinase 2	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:23747931|REF_RGD_ID:10403071
8831014	Jak2	Janus kinase 2	gene	DOID:9007842	Sepsis-Associated Encephalopathy	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:23236988|REF_RGD_ID:10403076
8831014	Jak2	Janus kinase 2	gene	DOID:9008104	Cancer Pain	treatment	ISO	RGD:2939	D	RGD:9068941	20210716	RGD			PMID:30027795|REF_RGD_ID:149735350
8831014	Jak2	Janus kinase 2	gene	DOID:9008691	Liver Injury	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD		associated with Pancreatitis, Acute	PMID:24161994|REF_RGD_ID:8694328
8831014	Jak2	Janus kinase 2	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:10823	D	RGD:9068941	20200609	RGD			PMID:21880982|REF_RGD_ID:6483022
8831014	Jak2	Janus kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731748	D	RGD:7240710	20180130	OMIM			
8831014	Jak2	Janus kinase 2	gene	DOID:9261	nasopharynx carcinoma	severity	ISO	RGD:731748	D	RGD:9068941	20210716	RGD		protein:increased expression:mucosa of nasopharynx (human)	PMID:30123088|REF_RGD_ID:149735327
8831014	Jak2	Janus kinase 2	gene	DOID:9452	steatotic liver disease		ISO	RGD:10823	D	RGD:9068941	20200609	RGD			PMID:22275361|REF_RGD_ID:6483019
8831014	Jak2	Janus kinase 2	gene	DOID:9970	obesity		ISO	RGD:2939	D	RGD:9068941	20200609	RGD		protein:decreased expression:hypothalamus	PMID:23397595|REF_RGD_ID:10411893
8831014	Jak2	Janus kinase 2	gene	DOID:9970	obesity		ISO	RGD:731748	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:omental adipose tissue:by microarray	PMID:14630696|REF_RGD_ID:1627661
8831046	Commd8	COMM domain containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8831046	Commd8	COMM domain containing 8	gene	DOID:0060305	megalocornea		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megalocornea	PMID:25741868
8831046	Commd8	COMM domain containing 8	gene	DOID:10892	hypospadias		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
8831046	Commd8	COMM domain containing 8	gene	DOID:1324	lung cancer		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8831046	Commd8	COMM domain containing 8	gene	DOID:13620	patent foramen ovale		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type	PMID:25741868
8831046	Commd8	COMM domain containing 8	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
8831046	Commd8	COMM domain containing 8	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
8831046	Commd8	COMM domain containing 8	gene	DOID:1909	melanoma		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8831046	Commd8	COMM domain containing 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1313413	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8831046	Commd8	COMM domain containing 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8831046	Commd8	COMM domain containing 8	gene	DOID:9001031	Retrognathia		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
8831046	Commd8	COMM domain containing 8	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8831046	Commd8	COMM domain containing 8	gene	DOID:9001510	Funnel Chest		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
8831046	Commd8	COMM domain containing 8	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:25741868
8831046	Commd8	COMM domain containing 8	gene	DOID:9003133	Hypertelorism		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8831046	Commd8	COMM domain containing 8	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:25741868
8831046	Commd8	COMM domain containing 8	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8831046	Commd8	COMM domain containing 8	gene	DOID:9005616	Micrognathism		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
8831046	Commd8	COMM domain containing 8	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8831046	Commd8	COMM domain containing 8	gene	DOID:930	orbital disease		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868
8831055	Ifi35	interferon induced protein 35	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8831055	Ifi35	interferon induced protein 35	gene	DOID:10534	stomach cancer		ISO	RGD:1312056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8831055	Ifi35	interferon induced protein 35	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8831055	Ifi35	interferon induced protein 35	gene	DOID:1324	lung cancer		ISO	RGD:1312056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8831055	Ifi35	interferon induced protein 35	gene	DOID:3021	acute kidney failure		ISO	RGD:1312056	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: therapeutic	PMID:40654249
8831055	Ifi35	interferon induced protein 35	gene	DOID:3275	thymoma		ISO	RGD:1312056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8831055	Ifi35	interferon induced protein 35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831055	Ifi35	interferon induced protein 35	gene	DOID:9001488	Human Influenza		ISO	RGD:1312056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
8831055	Ifi35	interferon induced protein 35	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1312056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8831055	Ifi35	interferon induced protein 35	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1312056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8831055	Ifi35	interferon induced protein 35	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8831066	Atl3	atlastin GTPase 3	gene	DOID:0070154	hereditary sensory neuropathy type 1F		ISO	RGD:1601766	D	RGD:7240710	20180130	OMIM			
8831066	Atl3	atlastin GTPase 3	gene	DOID:0070154	hereditary sensory neuropathy type 1F		ISO	RGD:1601766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary sensory neuropathy type IF | ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 1F	PMID:17576681|PMID:25741868|PMID:28492532|PMID:36856139|PMID:9536098
8831066	Atl3	atlastin GTPase 3	gene	DOID:630	genetic disease		ISO	RGD:1601766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:28492532
8831095	Bzw1	basic leucine zipper and W2 domains 1	gene	DOID:1909	melanoma		ISO	RGD:1347888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8831095	Bzw1	basic leucine zipper and W2 domains 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8831095	Bzw1	basic leucine zipper and W2 domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8831095	Bzw1	basic leucine zipper and W2 domains 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8831095	Bzw1	basic leucine zipper and W2 domains 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8831095	Bzw1	basic leucine zipper and W2 domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347888	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8831095	Bzw1	basic leucine zipper and W2 domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831095	Bzw1	basic leucine zipper and W2 domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8831095	Bzw1	basic leucine zipper and W2 domains 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8831113	Mapda	N6-Methyl-AMP deaminase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8831113	Mapda	N6-Methyl-AMP deaminase	gene	DOID:1115	sarcoma		ISO	RGD:1605272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8831113	Mapda	N6-Methyl-AMP deaminase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8831113	Mapda	N6-Methyl-AMP deaminase	gene	DOID:4362	cervical cancer		ISO	RGD:1605272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8831113	Mapda	N6-Methyl-AMP deaminase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8831113	Mapda	N6-Methyl-AMP deaminase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831113	Mapda	N6-Methyl-AMP deaminase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8831113	Mapda	N6-Methyl-AMP deaminase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8831113	Mapda	N6-Methyl-AMP deaminase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8831141	Pex11b	peroxisomal biogenesis factor 11 beta	gene	DOID:0050847	sleep apnea		ISO	RGD:1321208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:10704444|PMID:20826455|PMID:25741868|PMID:28129423
8831141	Pex11b	peroxisomal biogenesis factor 11 beta	gene	DOID:0081274	peroxisome biogenesis disorder 14B		ISO	RGD:1321208	D	RGD:7240710	20180130	OMIM			
8831141	Pex11b	peroxisomal biogenesis factor 11 beta	gene	DOID:0081274	peroxisome biogenesis disorder 14B		ISO	RGD:1321208	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 14B | ClinVar Annotator: match by term: PEX11B-related condition | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 14B	PMID:10704444|PMID:20826455|PMID:25741868|PMID:28129423|PMID:28492532
8831141	Pex11b	peroxisomal biogenesis factor 11 beta	gene	DOID:539	ophthalmoplegia		ISO	RGD:1321208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ophthalmoplegia	PMID:10704444|PMID:20826455|PMID:25741868|PMID:28129423
8831141	Pex11b	peroxisomal biogenesis factor 11 beta	gene	DOID:630	genetic disease		ISO	RGD:1321208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8831141	Pex11b	peroxisomal biogenesis factor 11 beta	gene	DOID:83	cataract		ISO	RGD:1321208	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital Cataract	
8831141	Pex11b	peroxisomal biogenesis factor 11 beta	gene	DOID:870	neuropathy		ISO	RGD:1321208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:10704444|PMID:20826455|PMID:25741868|PMID:28129423
8831141	Pex11b	peroxisomal biogenesis factor 11 beta	gene	DOID:9000343	Vision Disorders		ISO	RGD:1321208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:10704444|PMID:20826455|PMID:25741868|PMID:28129423
8831141	Pex11b	peroxisomal biogenesis factor 11 beta	gene	DOID:9000495	Tremor		ISO	RGD:1321208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:10704444|PMID:20826455|PMID:25741868|PMID:28129423
8831141	Pex11b	peroxisomal biogenesis factor 11 beta	gene	DOID:9004538	Hearing Loss		ISO	RGD:1321208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:10704444|PMID:20826455|PMID:22581968|PMID:25741868|PMID:26233629|PMID:28129423|PMID:28492532|PMID:31724321
8831141	Pex11b	peroxisomal biogenesis factor 11 beta	gene	DOID:905	Zellweger syndrome		ISO	RGD:1321209	D	RGD:9068941	20250703	MouseDO		OMIM:214100	
8831152	Vat1	vesicle amine transport 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8831152	Vat1	vesicle amine transport 1	gene	DOID:1115	sarcoma		ISO	RGD:1319007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8831152	Vat1	vesicle amine transport 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319007	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8831152	Vat1	vesicle amine transport 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831152	Vat1	vesicle amine transport 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8831163	Zpbp2	zona pellucida binding protein 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1603918	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
8831163	Zpbp2	zona pellucida binding protein 2	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:1603918	D	RGD:9068941	20251108	RGD		DNA:SNP:intron:rs12150079	PMID:23622005|REF_RGD_ID:629006618
8831163	Zpbp2	zona pellucida binding protein 2	gene	DOID:0080815	childhood-onset asthma	no_association	ISO	RGD:1603918	D	RGD:9068941	20251108	RGD		DNA:SNPs: :multiple	PMID:23622005|REF_RGD_ID:629006618
8831163	Zpbp2	zona pellucida binding protein 2	gene	DOID:2841	asthma		ISO	RGD:1558392	D	RGD:9068941	20251108	RGD		mRNA:increased expression:lung	PMID:29709669|REF_RGD_ID:629006615
8831163	Zpbp2	zona pellucida binding protein 2	gene	DOID:2841	asthma		ISO	RGD:1603918	D	RGD:9068941	20251108	RGD		DNA:SNPs, haplotypes: :multiple	PMID:19732864|REF_RGD_ID:629006617
8831163	Zpbp2	zona pellucida binding protein 2	gene	DOID:2841	asthma		ISO	RGD:1603918	D	RGD:9068941	20251108	RGD		DNA:SNPs: :rs11557467, rs12936231, rs1054609	PMID:22626592|REF_RGD_ID:629006620
8831163	Zpbp2	zona pellucida binding protein 2	gene	DOID:2841	asthma		ISO	RGD:1603918	D	RGD:9068941	20251108	RGD		DNA:SNPs: :rs12150079, rs11557467	PMID:23546690|REF_RGD_ID:629006616
8831163	Zpbp2	zona pellucida binding protein 2	gene	DOID:2841	asthma	no_association	ISO	RGD:1603918	D	RGD:9068941	20251108	RGD		DNA:SNP: :rs12150079, rs35591738	PMID:22626592|REF_RGD_ID:629006620
8831163	Zpbp2	zona pellucida binding protein 2	gene	DOID:2841	asthma	sexual_dimorphism	ISO	RGD:1603918	D	RGD:9068941	20251108	RGD		DNA:methylation:promoter	PMID:26671913|REF_RGD_ID:11575036
8831163	Zpbp2	zona pellucida binding protein 2	gene	DOID:3907	lung squamous cell carcinoma	disease_progression	ISO	RGD:1603918	D	RGD:9068941	20251108	RGD			PMID:33083119|REF_RGD_ID:629006623
8831163	Zpbp2	zona pellucida binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8831163	Zpbp2	zona pellucida binding protein 2	gene	DOID:9009397	adult-onset asthma		ISO	RGD:1603918	D	RGD:9068941	20251108	RGD		DNA:SNPs: :rs12936231, rs11557467	PMID:21985515|REF_RGD_ID:629006619
8831163	Zpbp2	zona pellucida binding protein 2	gene	DOID:9744	type 1 diabetes mellitus	onset	ISO	RGD:1603918	D	RGD:9068941	20251108	RGD		mRNA:increased expression:small intestine	PMID:33179336|REF_RGD_ID:629006622
8831180	Trim59	tripartite motif containing 59	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1349912	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8831190	Lcorl	ligand dependent nuclear receptor corepressor like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8831190	Lcorl	ligand dependent nuclear receptor corepressor like	gene	DOID:1115	sarcoma		ISO	RGD:1604965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8831190	Lcorl	ligand dependent nuclear receptor corepressor like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831190	Lcorl	ligand dependent nuclear receptor corepressor like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8831190	Lcorl	ligand dependent nuclear receptor corepressor like	gene	DOID:9003996	Birth Weight		ISO	RGD:1604965	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23202124
8831190	Lcorl	ligand dependent nuclear receptor corepressor like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8831237	Fam3a	FAM3 metabolism regulating signaling molecule A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8831237	Fam3a	FAM3 metabolism regulating signaling molecule A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349782	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8831237	Fam3a	FAM3 metabolism regulating signaling molecule A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1349782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8831237	Fam3a	FAM3 metabolism regulating signaling molecule A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831237	Fam3a	FAM3 metabolism regulating signaling molecule A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8831237	Fam3a	FAM3 metabolism regulating signaling molecule A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8831237	Fam3a	FAM3 metabolism regulating signaling molecule A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8831237	Fam3a	FAM3 metabolism regulating signaling molecule A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8831256	Nts	neurotensin	gene	DOID:0050742	nicotine dependence	ameliorates	ISO	RGD:621612	D	RGD:9068941	20250116	RGD			PMID:18687313|REF_RGD_ID:597000688
8831256	Nts	neurotensin	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1319092	D	RGD:9068941	20250116	RGD		protein:increased expression:serum	PMID:35769889|REF_RGD_ID:596992335
8831256	Nts	neurotensin	gene	DOID:11446	sciatic neuropathy		ISO	RGD:621612	D	RGD:9068941	20200609	RGD			PMID:8518953|REF_RGD_ID:9743903
8831256	Nts	neurotensin	gene	DOID:1596	depressive disorder		ISO	RGD:1319092	D	RGD:9068941	20231109	RGD		DNA:SNP:CDS:multiple (human)	PMID:35642741|REF_RGD_ID:401854249
8831256	Nts	neurotensin	gene	DOID:3275	thymoma		ISO	RGD:1319092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8831256	Nts	neurotensin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831256	Nts	neurotensin	gene	DOID:9000332	Hypovolemia		ISO	RGD:621612	D	RGD:9068941	20200609	RGD		mRNA:increased expression:neuron:	PMID:7721997|REF_RGD_ID:9727453
8831256	Nts	neurotensin	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:621612	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:neuron:	PMID:8866516|REF_RGD_ID:9743915
8831256	Nts	neurotensin	gene	DOID:9001480	Muscle Rigidity		ISO	RGD:1319092	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:8036282
8831256	Nts	neurotensin	gene	DOID:9002362	Hyperkinesis		ISO	RGD:1319092	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:3748325|PMID:6682440
8831256	Nts	neurotensin	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:621612	D	RGD:9068941	20200609	RGD			PMID:8518953|REF_RGD_ID:9743903
8831256	Nts	neurotensin	gene	DOID:9003805	Catalepsy		ISO	RGD:1319092	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20882060
8831256	Nts	neurotensin	gene	DOID:9007001	Bradycardia		ISO	RGD:1319092	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:2326505
8831264	Cpt1b	carnitine palmitoyltransferase 1B	gene	DOID:8986	narcolepsy		ISO	RGD:619557	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18820697
8831264	Cpt1b	carnitine palmitoyltransferase 1B	gene	DOID:9003936	Cardiomegaly		ISO	RGD:619557	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24330405
8831264	Cpt1b	carnitine palmitoyltransferase 1B	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:619557	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14563825
8831264	Cpt1b	carnitine palmitoyltransferase 1B	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:619557	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8831264	Cpt1b	carnitine palmitoyltransferase 1B	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:619557	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25058030
8831304	Myo1f	myosin IF	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8831304	Myo1f	myosin IF	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8831304	Myo1f	myosin IF	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1320254	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: bilateral sensorineural hearing impairment	
8831304	Myo1f	myosin IF	gene	DOID:10534	stomach cancer		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8831304	Myo1f	myosin IF	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8831304	Myo1f	myosin IF	gene	DOID:1115	sarcoma		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8831304	Myo1f	myosin IF	gene	DOID:1909	melanoma		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8831304	Myo1f	myosin IF	gene	DOID:4362	cervical cancer		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8831304	Myo1f	myosin IF	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8831304	Myo1f	myosin IF	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831304	Myo1f	myosin IF	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320254	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8831304	Myo1f	myosin IF	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8831304	Myo1f	myosin IF	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8831336	Tpm2	tropomyosin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8831336	Tpm2	tropomyosin 2	gene	DOID:0060260	ptosis		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
8831336	Tpm2	tropomyosin 2	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1605428	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:25741868
8831336	Tpm2	tropomyosin 2	gene	DOID:0080600	COVID-19		ISO	RGD:1605428	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8831336	Tpm2	tropomyosin 2	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1605428	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arthrogryposis	PMID:17339586|PMID:17430991|PMID:23678273|PMID:23886664|PMID:24692096|PMID:25741868|PMID:28492532|PMID:29068549|PMID:32092148
8831336	Tpm2	tropomyosin 2	gene	DOID:0110932	congenital myopathy 23		ISO	RGD:1605428	D	RGD:7240710	20180130	OMIM			
8831336	Tpm2	tropomyosin 2	gene	DOID:0110932	congenital myopathy 23		ISO	RGD:1605428	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 23 | ClinVar Annotator: match by term: Congenital myopathy 23 | ClinVar Annotator: match by term: Nemaline myopathy 4, autosomal dominant | ClinVar Annotator: match by term: TPM2-related cap myopathy	PMID:11738357|PMID:18789687|PMID:20301436|PMID:22084935|PMID:22832343|PMID:23401156|PMID:23689010|PMID:23886664|PMID:24657080|PMID:24692096|PMID:25741868|PMID:27854218|PMID:28492532|PMID:28881016|PMID:31966463|PMID:33060286|PMID:34008892|PMID:35052370|PMID:35579956|PMID:38071834
8831336	Tpm2	tropomyosin 2	gene	DOID:0111596	distal arthrogryposis type 1		ISO	RGD:1605428	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I | ClinVar Annotator: match by term: Digitotalar dysmorphism	PMID:11738357|PMID:17339586|PMID:17430991|PMID:18789687|PMID:19155175|PMID:20301436|PMID:22084935|PMID:23678273|PMID:23689010|PMID:23886664|PMID:24657080|PMID:24692096|PMID:25741868|PMID:27726070|PMID:28492532|PMID:28881016|PMID:29068549|PMID:32092148
8831336	Tpm2	tropomyosin 2	gene	DOID:0111597	distal arthrogryposis type 1A		ISO	RGD:1605428	D	RGD:7240710	20180130	OMIM			
8831336	Tpm2	tropomyosin 2	gene	DOID:0111597	distal arthrogryposis type 1A		ISO	RGD:1605428	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A | ClinVar Annotator: match by term: Distal arthrogryposis type 1A	PMID:16199547|PMID:17339586|PMID:17430991|PMID:17576681|PMID:19047562|PMID:19155175|PMID:22749895|PMID:22832343|PMID:22980765|PMID:23401156|PMID:23678273|PMID:23886664|PMID:24039757|PMID:24214167|PMID:24692096|PMID:25741868|PMID:27726070|PMID:28492532|PMID:29068549|PMID:31966463|PMID:32092148|PMID:33060286|PMID:35052370|PMID:35579956|PMID:38071834|PMID:9536098
8831336	Tpm2	tropomyosin 2	gene	DOID:0111599	distal arthrogryposis type 2B		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B	PMID:25741868
8831336	Tpm2	tropomyosin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8831336	Tpm2	tropomyosin 2	gene	DOID:10907	microcephaly		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
8831336	Tpm2	tropomyosin 2	gene	DOID:11836	clubfoot		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
8831336	Tpm2	tropomyosin 2	gene	DOID:3191	nemaline myopathy		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy	PMID:25741868
8831336	Tpm2	tropomyosin 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1605428	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
8831336	Tpm2	tropomyosin 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8831336	Tpm2	tropomyosin 2	gene	DOID:423	myopathy		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
8831336	Tpm2	tropomyosin 2	gene	DOID:540	strabismus		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
8831336	Tpm2	tropomyosin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831336	Tpm2	tropomyosin 2	gene	DOID:630	genetic disease		ISO	RGD:1605428	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11738357|PMID:18789687|PMID:20301436|PMID:22084935|PMID:23689010|PMID:23886664|PMID:24657080|PMID:24692096|PMID:25741868|PMID:28492532|PMID:28881016|PMID:35579956
8831336	Tpm2	tropomyosin 2	gene	DOID:9001483	Distal Arthrogryposis Type 2B4		ISO	RGD:1605428	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B4 | ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B4	PMID:17339586|PMID:17430991|PMID:23678273|PMID:23886664|PMID:24692096|PMID:25741868|PMID:28492532|PMID:29068549|PMID:32092148
8831336	Tpm2	tropomyosin 2	gene	DOID:9001581	Constipation		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
8831336	Tpm2	tropomyosin 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cognitive impairment	
8831336	Tpm2	tropomyosin 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
8831336	Tpm2	tropomyosin 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
8831336	Tpm2	tropomyosin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8831336	Tpm2	tropomyosin 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
8831349	Dap3	death associated protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8831349	Dap3	death associated protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8831349	Dap3	death associated protein 3	gene	DOID:0061073	Perrault syndrome 7		ISO	RGD:1313309	D	RGD:7240710	20250219	OMIM			
8831349	Dap3	death associated protein 3	gene	DOID:0061073	Perrault syndrome 7		ISO	RGD:1313309	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PERRAULT SYNDROME 7	PMID:25741868|PMID:39371131|PMID:39701103
8831349	Dap3	death associated protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8831349	Dap3	death associated protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8831349	Dap3	death associated protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1313309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8831349	Dap3	death associated protein 3	gene	DOID:3275	thymoma		ISO	RGD:1313309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8831349	Dap3	death associated protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1313309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8831349	Dap3	death associated protein 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8831349	Dap3	death associated protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831349	Dap3	death associated protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8831349	Dap3	death associated protein 3	gene	DOID:9003326	Perrault Syndrome 1		ISO	RGD:1313309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Perrault syndrome 1	
8831349	Dap3	death associated protein 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313309	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
8831366	Hcrtr1	hypocretin receptor 1	gene	DOID:0060001	withdrawal disorder		ISO	RGD:734418	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20667500
8831366	Hcrtr1	hypocretin receptor 1	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:734418	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16357203|PMID:19591850|PMID:19741128
8831366	Hcrtr1	hypocretin receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8831366	Hcrtr1	hypocretin receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8831386	Rho	rhodopsin	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:731395	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:8358437
8831386	Rho	rhodopsin	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:731395	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:10521250|PMID:10967073|PMID:11139241|PMID:1484692|PMID:18175313|PMID:1833777|PMID:18385078|PMID:1862076|PMID:1882937|PMID:19913029|PMID:21094163|PMID:24265693|PMID:24935155|PMID:25101269|PMID:25356976|PMID:25741868|PMID:26794436|PMID:26962691|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29785639|PMID:30635925|PMID:30718709|PMID:30977563|PMID:31054281|PMID:31213501|PMID:31239368|PMID:31429209|PMID:31456290|PMID:32037395|PMID:32100970|PMID:32531858|PMID:32581362|PMID:33090715|PMID:33576794|PMID:33749171|PMID:33781268|PMID:33946315|PMID:34448047|PMID:36284460|PMID:36460718|PMID:36819107|PMID:36909829|PMID:7987331|PMID:8253795|PMID:9380676
8831386	Rho	rhodopsin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8831386	Rho	rhodopsin	gene	DOID:0070679	congenital hypomyelinating neuropathy 2		ISO	RGD:731395	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2	
8831386	Rho	rhodopsin	gene	DOID:0110372	retinitis pigmentosa 4		ISO	RGD:731395	D	RGD:7240710	20180130	OMIM			
8831386	Rho	rhodopsin	gene	DOID:0110372	retinitis pigmentosa 4		ISO	RGD:731395	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 4 | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 4, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, RHODOPSIN-RELATED | ClinVar Annotator: match by term: Retinitis pigmentosa 4	PMID:10051572|PMID:10521250|PMID:10874327|PMID:10967073|PMID:11094174|PMID:11139241|PMID:11141431|PMID:11879142|PMID:11910130|PMID:12091393|PMID:1301135|PMID:1303237|PMID:1418997|PMID:1444916|PMID:14769795|PMID:1484692|PMID:15145060|PMID:15232620|PMID:15509574|PMID:16799052|PMID:17014888|PMID:17488458|PMID:17576681|PMID:1765377|PMID:1808803|PMID:18175313|PMID:1833777|PMID:18385078|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:1924344|PMID:1987955|PMID:1987956|PMID:19913029|PMID:19933196|PMID:19958124|PMID:20532191|PMID:20805032|PMID:21094163|PMID:21174529|PMID:2137202|PMID:21677794|PMID:22110080|PMID:22323724|PMID:22334370|PMID:2239971|PMID:22791210|PMID:23288993|PMID:23484092|PMID:23591405|PMID:24265693|PMID:24520188|PMID:24853414|PMID:24935155|PMID:24938718|PMID:25096327|PMID:25101269|PMID:25221422|PMID:25356976|PMID:25359768|PMID:25366773|PMID:25408095|PMID:25741868|PMID:25741869|PMID:26161267|PMID:26202387|PMID:26416182|PMID:26766544|PMID:26794436|PMID:26887858|PMID:26962691|PMID:27624628|PMID:27694816|PMID:28045043|PMID:28076437|PMID:28492532|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29463953|PMID:29785639|PMID:29847639|PMID:29890221|PMID:30029497|PMID:30085663|PMID:30240733|PMID:30538586|PMID:30635925|PMID:30718709|PMID:30977563|PMID:31054281|PMID:31087526|PMID:31100078|PMID:31213501|PMID:31239368|PMID:31429209|PMID:31456290|PMID:31717845|PMID:32013026|PMID:32037395|PMID:32100970|PMID:32531858|PMID:32581362|PMID:33090715|PMID:33247286|PMID:33576794|PMID:33749171|PMID:33781268|PMID:33946315|PMID:34448047|PMID:34906470|PMID:35052368|PMID:35456422|PMID:36284460|PMID:36460718|PMID:36819107|PMID:36909829|PMID:38219857|PMID:7523628|PMID:7819178|PMID:7981701|PMID:7987326|PMID:7987331|PMID:8045708|PMID:8088850|PMID:8253795|PMID:8317502|PMID:8353500|PMID:8358437|PMID:8401533|PMID:8406457|PMID:8905849|PMID:9342608|PMID:9380676|PMID:9483582|PMID:9536098|PMID:9724753|PMID:9810568
8831386	Rho	rhodopsin	gene	DOID:0110862	congenital stationary night blindness autosomal dominant 1		ISO	RGD:731395	D	RGD:7240710	20180130	OMIM			
8831386	Rho	rhodopsin	gene	DOID:0110862	congenital stationary night blindness autosomal dominant 1		ISO	RGD:731395	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 1 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, RHODOPSIN-RELATED	PMID:11879142|PMID:12091393|PMID:12860986|PMID:1418997|PMID:14769795|PMID:15509574|PMID:1987955|PMID:1987956|PMID:19913029|PMID:19933196|PMID:20591486|PMID:20805032|PMID:21094163|PMID:2137202|PMID:22110080|PMID:22323724|PMID:2239971|PMID:22995991|PMID:24853414|PMID:2509724|PMID:25097241|PMID:25741868|PMID:26202387|PMID:28492532|PMID:28559085|PMID:8317502|PMID:9050844|PMID:9380676|PMID:9618546|PMID:9888392
8831386	Rho	rhodopsin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:731395	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10521250|PMID:10967073|PMID:11094174|PMID:11139241|PMID:11141431|PMID:12660238|PMID:12860986|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1303237|PMID:1484692|PMID:14971589|PMID:1580841|PMID:16123440|PMID:16767206|PMID:17014888|PMID:17488458|PMID:17576681|PMID:1765377|PMID:1783387|PMID:18175313|PMID:1833777|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:1924344|PMID:19913029|PMID:20164459|PMID:20525296|PMID:20555336|PMID:20591486|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:21922596|PMID:2215617|PMID:22164218|PMID:22995991|PMID:23591405|PMID:24265693|PMID:24520188|PMID:24760071|PMID:24935155|PMID:24938718|PMID:2509724|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25408095|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26962691|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28524165|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29847639|PMID:29890221|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31100078|PMID:31908405|PMID:33576794|PMID:7724183|PMID:7981701|PMID:7987326|PMID:7987331|PMID:8045708|PMID:8088850|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8406457|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9050844|PMID:9197578|PMID:9380676|PMID:9483582|PMID:9536098|PMID:9618546
8831386	Rho	rhodopsin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:731395	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10521250|PMID:10967073|PMID:11094174|PMID:11139241|PMID:12660238|PMID:12860986|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1303237|PMID:1484692|PMID:14971589|PMID:1580841|PMID:16123440|PMID:16767206|PMID:17488458|PMID:17576681|PMID:1783387|PMID:18175313|PMID:1833777|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:1924344|PMID:19913029|PMID:20164459|PMID:20525296|PMID:20555336|PMID:20591486|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:21922596|PMID:2215617|PMID:22164218|PMID:22995991|PMID:24265693|PMID:24520188|PMID:24760071|PMID:24935155|PMID:2509724|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25525159|PMID:25741868|PMID:25999674|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29847639|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31100078|PMID:33576794|PMID:7981701|PMID:7987326|PMID:8088850|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9050844|PMID:9197578|PMID:9380676|PMID:9483582|PMID:9536098|PMID:9618546
8831386	Rho	rhodopsin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:731395	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10521250|PMID:10967073|PMID:11094174|PMID:11139241|PMID:11141431|PMID:12660238|PMID:12860986|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1303237|PMID:1484692|PMID:14971589|PMID:15126168|PMID:1580841|PMID:16123440|PMID:16737970|PMID:16767206|PMID:17014888|PMID:17488458|PMID:17576681|PMID:1765377|PMID:1783387|PMID:18175313|PMID:1833777|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:19085385|PMID:1924344|PMID:19913029|PMID:19960070|PMID:20164459|PMID:20525296|PMID:20555336|PMID:20591486|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:21922596|PMID:2215617|PMID:22164218|PMID:22252712|PMID:22791210|PMID:22968130|PMID:22995991|PMID:23221340|PMID:23591405|PMID:23625926|PMID:24106275|PMID:24265693|PMID:24520188|PMID:24760071|PMID:24935155|PMID:24938718|PMID:2509724|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25408095|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26887858|PMID:26962691|PMID:28041643|PMID:28076437|PMID:28341476|PMID:28492532|PMID:28524165|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29847639|PMID:29890221|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31100078|PMID:31319082|PMID:31456290|PMID:31908405|PMID:32037395|PMID:32581362|PMID:33576794|PMID:34906470|PMID:36909829|PMID:7724183|PMID:7981701|PMID:7987326|PMID:7987331|PMID:7987385|PMID:8045708|PMID:8088850|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8406457|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9050844|PMID:9197578|PMID:9380676|PMID:9483582|PMID:9536098|PMID:9618546|PMID:9810568
8831386	Rho	rhodopsin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:731395	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10521250|PMID:10967073|PMID:11094174|PMID:11139241|PMID:11141431|PMID:12660238|PMID:12860986|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1303237|PMID:1484692|PMID:14971589|PMID:15126168|PMID:1580841|PMID:16123440|PMID:16737970|PMID:16767206|PMID:16799052|PMID:17014888|PMID:17488458|PMID:17576681|PMID:1765377|PMID:1783387|PMID:18175313|PMID:1833777|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:19085385|PMID:1924344|PMID:19913029|PMID:19960070|PMID:20164459|PMID:20525296|PMID:20555336|PMID:20591486|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:21922596|PMID:2215617|PMID:22164218|PMID:22252712|PMID:22791210|PMID:22968130|PMID:22995991|PMID:23221340|PMID:23591405|PMID:23625926|PMID:24106275|PMID:24265693|PMID:24520188|PMID:24760071|PMID:24935155|PMID:24938718|PMID:2509724|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25408095|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26887858|PMID:26962691|PMID:28041643|PMID:28076437|PMID:28341476|PMID:28492532|PMID:28524165|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29847639|PMID:29890221|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31100078|PMID:31319082|PMID:31456290|PMID:31908405|PMID:32037395|PMID:32581362|PMID:33576794|PMID:34906470|PMID:36909829|PMID:7724183|PMID:7981701|PMID:7987326|PMID:7987331|PMID:7987385|PMID:8045708|PMID:8088850|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8406457|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9050844|PMID:9197578|PMID:9380676|PMID:9483582|PMID:9536098|PMID:9618546|PMID:9810568
8831386	Rho	rhodopsin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:731395	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10521250|PMID:10967073|PMID:11094174|PMID:11139241|PMID:11141431|PMID:12660238|PMID:12860986|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1303237|PMID:1484692|PMID:14971589|PMID:15126168|PMID:1580841|PMID:16123440|PMID:16737970|PMID:16799052|PMID:17014888|PMID:17488458|PMID:17576681|PMID:1765377|PMID:1783387|PMID:18175313|PMID:18310263|PMID:1833777|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:19085385|PMID:1924344|PMID:19913029|PMID:19960070|PMID:20164459|PMID:20525296|PMID:20555336|PMID:20591486|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:21922596|PMID:2215617|PMID:22164218|PMID:22252712|PMID:22791210|PMID:22968130|PMID:22995991|PMID:23221340|PMID:23591405|PMID:23625926|PMID:24106275|PMID:24265693|PMID:24520188|PMID:24760071|PMID:24935155|PMID:24938718|PMID:2509724|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25408095|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26887858|PMID:26962691|PMID:28041643|PMID:28076437|PMID:28341476|PMID:28492532|PMID:28524165|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29847639|PMID:29890221|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31100078|PMID:31319082|PMID:31456290|PMID:31908405|PMID:32037395|PMID:32581362|PMID:33576794|PMID:34906470|PMID:36909829|PMID:7724183|PMID:7981701|PMID:7987326|PMID:7987331|PMID:7987385|PMID:8045708|PMID:8088850|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8406457|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9050844|PMID:9197578|PMID:9380676|PMID:9483582|PMID:9536098|PMID:9618546|PMID:9810568
8831386	Rho	rhodopsin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:731395	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10521250|PMID:10967073|PMID:11094174|PMID:11139241|PMID:11141431|PMID:12660238|PMID:12860986|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1303237|PMID:14566652|PMID:1484692|PMID:14971589|PMID:15126168|PMID:1580841|PMID:16123440|PMID:16737970|PMID:16799052|PMID:17014888|PMID:17488458|PMID:17576681|PMID:1765377|PMID:1783387|PMID:18175313|PMID:18310263|PMID:1833777|PMID:1840561|PMID:18412284|PMID:1862076|PMID:1882937|PMID:1897520|PMID:19085385|PMID:1924344|PMID:19913029|PMID:19960070|PMID:20164459|PMID:20525296|PMID:20555336|PMID:20591486|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:21922596|PMID:2215617|PMID:22164218|PMID:22252712|PMID:22791210|PMID:22968130|PMID:22995991|PMID:23221340|PMID:23591405|PMID:23625926|PMID:24106275|PMID:24265693|PMID:24520188|PMID:24760071|PMID:24935155|PMID:24938718|PMID:2509724|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25408095|PMID:25412400|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26887858|PMID:26962691|PMID:28041643|PMID:28076437|PMID:28341476|PMID:28492532|PMID:28524165|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29847639|PMID:29890221|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31100078|PMID:31319082|PMID:31456290|PMID:31908405|PMID:32037395|PMID:32581362|PMID:33576794|PMID:34906470|PMID:36909829|PMID:37165311|PMID:7558711|PMID:7724183|PMID:7981701|PMID:7987326|PMID:7987331|PMID:7987385|PMID:8045708|PMID:8088850|PMID:8163341|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8406457|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9050844|PMID:9197578|PMID:9380676|PMID:9483582|PMID:9536098|PMID:9618546|PMID:9810568
8831386	Rho	rhodopsin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:731395	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10521250|PMID:10967073|PMID:11094174|PMID:11139241|PMID:11141431|PMID:12660238|PMID:12860986|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1303237|PMID:14566652|PMID:1484692|PMID:14971589|PMID:15126168|PMID:1580841|PMID:16123440|PMID:16737970|PMID:16799052|PMID:17014888|PMID:17488458|PMID:17576681|PMID:1765377|PMID:1783387|PMID:18175313|PMID:18310263|PMID:1833777|PMID:18385078|PMID:1840561|PMID:18412284|PMID:1862076|PMID:1882937|PMID:1897520|PMID:19085385|PMID:1924344|PMID:19913029|PMID:19960070|PMID:20164459|PMID:2021172|PMID:20525296|PMID:20555336|PMID:20591486|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21340525|PMID:21352497|PMID:21357407|PMID:21922596|PMID:2215617|PMID:22164218|PMID:22217031|PMID:22252712|PMID:22791210|PMID:22968130|PMID:22995991|PMID:23221340|PMID:23559859|PMID:23591405|PMID:23625926|PMID:24106275|PMID:24265693|PMID:24520188|PMID:24573320|PMID:24760071|PMID:24935155|PMID:24938718|PMID:2509724|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25356976|PMID:25408095|PMID:25412400|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26202387|PMID:26667666|PMID:26794436|PMID:26887858|PMID:26962691|PMID:27654411|PMID:28041643|PMID:28076437|PMID:28341476|PMID:28492532|PMID:28524165|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29785639|PMID:29847639|PMID:29890221|PMID:30240733|PMID:30635925|PMID:30718709|PMID:30910914|PMID:30972525|PMID:3097756|PMID:30977563|PMID:31054281|PMID:31100078|PMID:31213501|PMID:31239368|PMID:31319082|PMID:31429209|PMID:31456290|PMID:31630094|PMID:31717845|PMID:31908405|PMID:31960602|PMID:31964843|PMID:32036094|PMID:32037395|PMID:32100970|PMID:32531858|PMID:3258136|PMID:32581362|PMID:32795431|PMID:33090715|PMID:33347869|PMID:33576794|PMID:33629268|PMID:33691693|PMID:33749171|PMID:33781268|PMID:33851411|PMID:33946315|PMID:34088267|PMID:34426522|PMID:34448047|PMID:34721897|PMID:34758253|PMID:34906470|PMID:34996991|PMID:35456422|PMID:35656873|PMID:36070159|PMID:36284460|PMID:36460718|PMID:36819107|PMID:36909829|PMID:37165311|PMID:7558711|PMID:7724183|PMID:7726911|PMID:7981701|PMID:7987326|PMID:7987331|PMID:7987385|PMID:8045708|PMID:8088850|PMID:8163341|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8406457|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9050844|PMID:9197578|PMID:9380676|PMID:9483582|PMID:9536098|PMID:9618546|PMID:9810568
8831386	Rho	rhodopsin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:731395	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10521250|PMID:10967073|PMID:11094174|PMID:11139241|PMID:11141431|PMID:12660238|PMID:12860986|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1303237|PMID:14566652|PMID:1484692|PMID:14971589|PMID:15126168|PMID:1580841|PMID:16123440|PMID:16737970|PMID:16799052|PMID:17014888|PMID:17488458|PMID:17576681|PMID:1765377|PMID:1783387|PMID:17982420|PMID:18175313|PMID:18310263|PMID:1833777|PMID:18385078|PMID:1840561|PMID:18412284|PMID:1862076|PMID:1882937|PMID:1897520|PMID:19085385|PMID:1924344|PMID:19913029|PMID:19960070|PMID:20164459|PMID:2021172|PMID:20525296|PMID:20555336|PMID:20591486|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21219898|PMID:21340525|PMID:21352497|PMID:21357407|PMID:21911583|PMID:21922596|PMID:2215617|PMID:22217031|PMID:22252712|PMID:22791210|PMID:22968130|PMID:22995991|PMID:23221340|PMID:23559859|PMID:23591405|PMID:23625926|PMID:24106275|PMID:24265693|PMID:24520188|PMID:24573320|PMID:24760071|PMID:24935155|PMID:24938718|PMID:2509724|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25356976|PMID:25408095|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26202387|PMID:26667666|PMID:26794436|PMID:26887858|PMID:26962691|PMID:27654411|PMID:28041643|PMID:28076437|PMID:28341476|PMID:28492532|PMID:28524165|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29145636|PMID:29785639|PMID:29847639|PMID:29890221|PMID:30240733|PMID:30635925|PMID:30718709|PMID:30910914|PMID:30972525|PMID:3097756|PMID:30977563|PMID:31054281|PMID:31100078|PMID:31213501|PMID:31239368|PMID:31319082|PMID:31429209|PMID:31456290|PMID:31630094|PMID:31717845|PMID:31908405|PMID:31960602|PMID:31964843|PMID:32036094|PMID:32037395|PMID:32100970|PMID:32531858|PMID:3258136|PMID:32581362|PMID:32795431|PMID:33090715|PMID:33347869|PMID:33576794|PMID:33629268|PMID:33691693|PMID:33749171|PMID:33781268|PMID:33851411|PMID:33946315|PMID:34088267|PMID:34426522|PMID:34448047|PMID:34721897|PMID:34758253|PMID:34906470|PMID:34996991|PMID:35456422|PMID:35656873|PMID:36070159|PMID:36284460|PMID:36460718|PMID:36819107|PMID:36909829|PMID:37165311|PMID:7558711|PMID:7724183|PMID:7726911|PMID:7981701|PMID:7987326|PMID:7987331|PMID:7987385|PMID:8045708|PMID:8088850|PMID:8163341|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8406457|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9050844|PMID:9054934|PMID:9197578|PMID:9380676|PMID:9483582|PMID:9536098|PMID:9618546|PMID:9810568
8831386	Rho	rhodopsin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:731395	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10521250|PMID:10967073|PMID:11139241|PMID:12660238|PMID:12860986|PMID:12966518|PMID:1301135|PMID:1303237|PMID:1444916|PMID:1484692|PMID:15126168|PMID:16799052|PMID:17014888|PMID:1765377|PMID:18175313|PMID:1833777|PMID:18385078|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:1924344|PMID:19913029|PMID:2021172|PMID:20525296|PMID:20555336|PMID:20591486|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21340525|PMID:21352497|PMID:21922596|PMID:2215617|PMID:22217031|PMID:22791210|PMID:22968130|PMID:22995991|PMID:24106275|PMID:24938718|PMID:2509724|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25356976|PMID:25741868|PMID:26202387|PMID:26667666|PMID:26794436|PMID:26887858|PMID:26962691|PMID:28041643|PMID:28076437|PMID:28341476|PMID:28492532|PMID:28524165|PMID:28559085|PMID:28981474|PMID:29099798|PMID:29785639|PMID:29847639|PMID:29890221|PMID:30240733|PMID:30538586|PMID:30635925|PMID:30718709|PMID:30972525|PMID:30977563|PMID:31054281|PMID:31100078|PMID:31213501|PMID:31239368|PMID:31319082|PMID:31429209|PMID:31456290|PMID:31630094|PMID:31717845|PMID:31908405|PMID:31960602|PMID:31964843|PMID:32037395|PMID:32100970|PMID:32531858|PMID:32581362|PMID:33090715|PMID:33576794|PMID:33629268|PMID:33749171|PMID:33781268|PMID:33851411|PMID:33946315|PMID:34088267|PMID:34448047|PMID:34758253|PMID:34906470|PMID:35656873|PMID:36284460|PMID:36460718|PMID:36819107|PMID:36909829|PMID:7724183|PMID:7987326|PMID:8045708|PMID:8088850|PMID:8253795|PMID:8317502|PMID:8353500|PMID:9050844|PMID:9380676|PMID:9483582|PMID:9618546|PMID:9810568
8831386	Rho	rhodopsin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:731395	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10521250|PMID:10967073|PMID:11094174|PMID:11139241|PMID:12660238|PMID:12860986|PMID:12966518|PMID:1301135|PMID:1303237|PMID:1444916|PMID:1484692|PMID:15126168|PMID:1580841|PMID:16799052|PMID:17014888|PMID:1765377|PMID:18175313|PMID:18310263|PMID:1833777|PMID:18385078|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:1924344|PMID:19913029|PMID:2021172|PMID:20525296|PMID:20555336|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21340525|PMID:21352497|PMID:21922596|PMID:2215617|PMID:22217031|PMID:22791210|PMID:22968130|PMID:22995991|PMID:23591405|PMID:24265693|PMID:24520188|PMID:24935155|PMID:24938718|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25356976|PMID:25408095|PMID:25741868|PMID:26202387|PMID:26667666|PMID:26794436|PMID:26887858|PMID:26962691|PMID:27654411|PMID:28041643|PMID:28076437|PMID:28341476|PMID:28492532|PMID:28524165|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29785639|PMID:29847639|PMID:29890221|PMID:30240733|PMID:30635925|PMID:30718709|PMID:30910914|PMID:30972525|PMID:3097756|PMID:30977563|PMID:31054281|PMID:31213501|PMID:31239368|PMID:31319082|PMID:31429209|PMID:31456290|PMID:31630094|PMID:31717845|PMID:31908405|PMID:31960602|PMID:31964843|PMID:32036094|PMID:32037395|PMID:32100970|PMID:32531858|PMID:32581362|PMID:32795431|PMID:33090715|PMID:33347869|PMID:33576794|PMID:33629268|PMID:33749171|PMID:33781268|PMID:33851411|PMID:33946315|PMID:34088267|PMID:34426522|PMID:34448047|PMID:34758253|PMID:34906470|PMID:34996991|PMID:35456422|PMID:35656873|PMID:36284460|PMID:36460718|PMID:36819107|PMID:36909829|PMID:7724183|PMID:7987326|PMID:7987331|PMID:8045708|PMID:8088850|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8905849|PMID:9050844|PMID:9380676|PMID:9618546|PMID:9810568
8831386	Rho	rhodopsin	gene	DOID:10584	retinitis pigmentosa	treatment	ISO	RGD:11239	D	RGD:9068941	20200609	RGD			PMID:17083931|PMID:21126223|REF_RGD_ID:8547992|REF_RGD_ID:8548552
8831386	Rho	rhodopsin	gene	DOID:10584	retinitis pigmentosa	treatment	ISO	RGD:731395	D	RGD:9068941	20200609	RGD			PMID:21268285|REF_RGD_ID:8548515
8831386	Rho	rhodopsin	gene	DOID:11105	fundus albipunctatus		ISO	RGD:731395	D	RGD:7240710	20180130	OMIM			
8831386	Rho	rhodopsin	gene	DOID:11105	fundus albipunctatus		ISO	RGD:731395	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens	PMID:10521250|PMID:10967073|PMID:11139241|PMID:11879142|PMID:12091393|PMID:1418997|PMID:14769795|PMID:1484692|PMID:15509574|PMID:18175313|PMID:18385078|PMID:1862076|PMID:1882937|PMID:1987955|PMID:1987956|PMID:19913029|PMID:19933196|PMID:20805032|PMID:21094163|PMID:2137202|PMID:21677794|PMID:22110080|PMID:22323724|PMID:2239971|PMID:24853414|PMID:25101269|PMID:25356976|PMID:25741868|PMID:26202387|PMID:26794436|PMID:26962691|PMID:28492532|PMID:28559085|PMID:29785639|PMID:30635925|PMID:30718709|PMID:30977563|PMID:31054281|PMID:31213501|PMID:31239368|PMID:31429209|PMID:31456290|PMID:32037395|PMID:32100970|PMID:32531858|PMID:33090715|PMID:33576794|PMID:33781268|PMID:33946315|PMID:34448047|PMID:36284460|PMID:36460718|PMID:36819107|PMID:36909829|PMID:7987331|PMID:9380676
8831386	Rho	rhodopsin	gene	DOID:13561	optic disk drusen		ISO	RGD:731395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic disc drusen	PMID:10967073|PMID:25741868|PMID:28492532|PMID:30977563|PMID:7987331|PMID:9380676
8831386	Rho	rhodopsin	gene	DOID:1432	blindness		ISO	RGD:731395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:10967073|PMID:25741868|PMID:28492532|PMID:30977563|PMID:7987331|PMID:9380676
8831386	Rho	rhodopsin	gene	DOID:219	colon cancer		ISO	RGD:731395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	
8831386	Rho	rhodopsin	gene	DOID:5327	retinal detachment		ISO	RGD:731395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal detachment	PMID:10967073|PMID:25741868|PMID:28492532|PMID:30977563|PMID:7987331|PMID:9380676
8831386	Rho	rhodopsin	gene	DOID:5679	retinal disease		ISO	RGD:731395	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:11139241|PMID:14566652|PMID:17576681|PMID:18385078|PMID:18412284|PMID:1882937|PMID:18837008|PMID:1924344|PMID:21094163|PMID:21357407|PMID:2215617|PMID:22791210|PMID:22956602|PMID:24938718|PMID:25097241|PMID:25359768|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26887858|PMID:28492532|PMID:28981474|PMID:29847639|PMID:30029497|PMID:30977563|PMID:31717845|PMID:32037395|PMID:32483926|PMID:32795431|PMID:33576794|PMID:34906470|PMID:38219857|PMID:7558711|PMID:8163341|PMID:8317502|PMID:863805|PMID:9536098
8831386	Rho	rhodopsin	gene	DOID:630	genetic disease		ISO	RGD:731395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8831386	Rho	rhodopsin	gene	DOID:7765	Coats disease		ISO	RGD:731395	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Exudative retinopathy	PMID:10967073|PMID:25741868|PMID:28492532|PMID:30977563|PMID:7987331|PMID:9380676
8831386	Rho	rhodopsin	gene	DOID:83	cataract		ISO	RGD:731395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:10967073|PMID:25741868|PMID:28492532|PMID:30977563|PMID:7987331|PMID:9380676
8831386	Rho	rhodopsin	gene	DOID:8466	retinal degeneration		ISO	RGD:11239	D	RGD:9068941	20240808	RGD			PMID:17525223|REF_RGD_ID:8548485
8831386	Rho	rhodopsin	gene	DOID:8466	retinal degeneration		ISO	RGD:731395	D	RGD:9068941	20240808	CTD		CTD Direct Evidence: marker/mechanism	PMID:27233447|PMID:8692941
8831386	Rho	rhodopsin	gene	DOID:8499	night blindness		ISO	RGD:731395	D	RGD:9068941	20260521	RGD		CSNBAD1,OMIM:610445;DNA:point mutation:exon:A292E	PMID:8358437|REF_RGD_ID:1601620
8831386	Rho	rhodopsin	gene	DOID:8501	fundus dystrophy		ISO	RGD:731395	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10189219|PMID:10521250|PMID:10668933|PMID:10874327|PMID:10967073|PMID:11139241|PMID:11879142|PMID:12091393|PMID:12660238|PMID:1418997|PMID:14769795|PMID:1484692|PMID:1487240|PMID:15145060|PMID:15509574|PMID:16170112|PMID:16799052|PMID:17014888|PMID:17488458|PMID:17576681|PMID:1765377|PMID:17936999|PMID:1808803|PMID:18175313|PMID:1833777|PMID:18385078|PMID:1862076|PMID:1882937|PMID:1897520|PMID:18987202|PMID:19085385|PMID:1924344|PMID:19506198|PMID:1987955|PMID:1987956|PMID:19913029|PMID:19933196|PMID:19960070|PMID:20164459|PMID:20591486|PMID:20805032|PMID:21094163|PMID:21217109|PMID:21352497|PMID:21357407|PMID:2137202|PMID:21677794|PMID:21940625|PMID:22110080|PMID:22252712|PMID:22321012|PMID:22323724|PMID:22334370|PMID:2239971|PMID:23221340|PMID:23288993|PMID:23484092|PMID:23559859|PMID:23579341|PMID:23591405|PMID:23625926|PMID:23940033|PMID:24106275|PMID:24265693|PMID:24573320|PMID:24760071|PMID:24853414|PMID:24935155|PMID:25101269|PMID:25221422|PMID:25356976|PMID:25408095|PMID:25741868|PMID:26202387|PMID:26321861|PMID:26427453|PMID:26794436|PMID:26887858|PMID:26962691|PMID:27458239|PMID:27654411|PMID:27694816|PMID:27812022|PMID:28041643|PMID:28045043|PMID:28076437|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29099798|PMID:29453956|PMID:29785639|PMID:29847639|PMID:30085663|PMID:30240733|PMID:30635925|PMID:30718709|PMID:30972525|PMID:3097756|PMID:30977563|PMID:31054281|PMID:31087526|PMID:31213501|PMID:31239368|PMID:31319082|PMID:31429209|PMID:31456290|PMID:31717845|PMID:31877679|PMID:31908405|PMID:31960602|PMID:31964843|PMID:32013026|PMID:32037395|PMID:32100970|PMID:32531858|PMID:3258136|PMID:32581362|PMID:32795431|PMID:33090715|PMID:33347869|PMID:33576794|PMID:33669941|PMID:33691693|PMID:33749171|PMID:33781268|PMID:33946315|PMID:34426522|PMID:34448047|PMID:34666717|PMID:34721897|PMID:34758253|PMID:34906470|PMID:35456422|PMID:36070159|PMID:36284460|PMID:36460718|PMID:36819107|PMID:36909829|PMID:37165311|PMID:7724183|PMID:7726911|PMID:7846071|PMID:7981701|PMID:7987326|PMID:7987331|PMID:7987385|PMID:8081400|PMID:8088850|PMID:8253795|PMID:8317502|PMID:8401533|PMID:8406457|PMID:8807346|PMID:9010870|PMID:9452035|PMID:9536098|PMID:9724753|PMID:9810568
8831386	Rho	rhodopsin	gene	DOID:9650	pathologic nystagmus		ISO	RGD:731395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:10967073|PMID:25741868|PMID:28492532|PMID:30977563|PMID:7987331|PMID:9380676
8831395	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8831395	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1316657	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
8831395	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:0070444	neurodevelopmental disorder with language delay and seizures		ISO	RGD:1316657	D	RGD:7240710	20221116	OMIM			
8831395	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:0070444	neurodevelopmental disorder with language delay and seizures		ISO	RGD:1316657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and seizures | ClinVar Annotator: match by term: TIAM1-related condition	PMID:25741868
8831395	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8831395	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8831395	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:1115	sarcoma		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8831395	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:1324	lung cancer		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8831395	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1316657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27862620
8831395	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:1909	melanoma		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8831395	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8831395	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:3275	thymoma		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8831395	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8831395	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8831395	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316657	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8831395	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8831395	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831395	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8831395	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1316657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27862620
8831395	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8831437	Erp44	endoplasmic reticulum protein 44	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8831437	Erp44	endoplasmic reticulum protein 44	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8831437	Erp44	endoplasmic reticulum protein 44	gene	DOID:10534	stomach cancer		ISO	RGD:1319370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8831437	Erp44	endoplasmic reticulum protein 44	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8831437	Erp44	endoplasmic reticulum protein 44	gene	DOID:1909	melanoma		ISO	RGD:1319370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8831437	Erp44	endoplasmic reticulum protein 44	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831437	Erp44	endoplasmic reticulum protein 44	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319370	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8831437	Erp44	endoplasmic reticulum protein 44	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8831437	Erp44	endoplasmic reticulum protein 44	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050538	Charcot-Marie-Tooth disease type 1		ISO	RGD:1322801	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I	
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22131434|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25510381|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29525178|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31743256|PMID:32376792|PMID:32385536|PMID:33502061|PMID:9536098
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22131434|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25510381|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33502061|PMID:9536098
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33502061|PMID:34426522|PMID:9536098
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:26742954|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:28889094|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30552426|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:32022442|PMID:32376792|PMID:32385536|PMID:32385905|PMID:33424531|PMID:33502061|PMID:34122524|PMID:34169998|PMID:34426522|PMID:36133075|PMID:9536098
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:26742954|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:28889094|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30552426|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:32022442|PMID:32376792|PMID:32385536|PMID:32385905|PMID:33424531|PMID:33502061|PMID:33770234|PMID:34122524|PMID:34169998|PMID:34426522|PMID:36133075|PMID:9536098
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:26742954|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:28889094|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30552426|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:32022442|PMID:32376792|PMID:32385536|PMID:32385905|PMID:33096303|PMID:33424531|PMID:33502061|PMID:33770234|PMID:34122524|PMID:34169998|PMID:34426522|PMID:36133075|PMID:9536098
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:26742954|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:28889094|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30552426|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:31980526|PMID:32022442|PMID:32268254|PMID:32376792|PMID:32385536|PMID:32385905|PMID:33096303|PMID:33405357|PMID:33424531|PMID:33502061|PMID:33770234|PMID:34122524|PMID:34169998|PMID:34426522|PMID:34899148|PMID:36133075|PMID:36529678|PMID:37223130|PMID:9536098
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18556664|PMID:19118816|PMID:20630877|PMID:21705420|PMID:23336365|PMID:23489662|PMID:23623387|PMID:23881933|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25614874|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26742954|PMID:28051077|PMID:28492532|PMID:28889094|PMID:29342275|PMID:29518270|PMID:29650794|PMID:30740813|PMID:32268254|PMID:32376792|PMID:32385905|PMID:33424531|PMID:33770234|PMID:34122524|PMID:34426522|PMID:35896380|PMID:35982159|PMID:36133075|PMID:37223130|PMID:37950760|PMID:9536098
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:17576681|PMID:19118816|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792|PMID:9536098
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0060202	amyotrophic lateral sclerosis type 11		ISO	RGD:1322801	D	RGD:7240710	20180130	OMIM			
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0060202	amyotrophic lateral sclerosis type 11		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 11 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 11	PMID:17572665|PMID:17576681|PMID:19118816|PMID:21705420|PMID:23623387|PMID:23881933|PMID:25382069|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28051077|PMID:28492532|PMID:29342275|PMID:29650794|PMID:30740813|PMID:32376792|PMID:33502061|PMID:34426522|PMID:35896380|PMID:36133075|PMID:37223130|PMID:9536098
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0060589	Yunis-Varon syndrome		ISO	RGD:1322801	D	RGD:7240710	20180130	OMIM			
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0060589	Yunis-Varon syndrome		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: YUNIS-VARON SYNDROME | ClinVar Annotator: match by term: Yunis Varon syndrome | ClinVar Annotator: match by term: Yunis-Varon Syndrome | ClinVar Annotator: match by term: Yunis-Varon syndrome	PMID:16199547|PMID:17576681|PMID:19118816|PMID:21705420|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24598713|PMID:25382069|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29342275|PMID:29650794|PMID:30740813|PMID:32268254|PMID:32376792|PMID:33424531|PMID:34426522|PMID:34899148|PMID:36133075|PMID:37223130|PMID:38162165|PMID:9536098
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria		ISO	RGD:1322801	D	RGD:7240710	20180130	OMIM			
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bilateral parasagittal parieto-occipital polymicrogyria | ClinVar Annotator: match by term: Polymicrogyria, bilateral temporooccipital	PMID:21705420|PMID:24598713|PMID:25382069|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792|PMID:34426522
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0110184	Charcot-Marie-Tooth disease type 4J		ISO	RGD:1322801	D	RGD:7240710	20180130	OMIM			
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0110184	Charcot-Marie-Tooth disease type 4J		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J	PMID:16199547|PMID:17572665|PMID:17576681|PMID:19118816|PMID:21705420|PMID:23623387|PMID:23881933|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28051077|PMID:28492532|PMID:29342275|PMID:29650794|PMID:30740813|PMID:32268254|PMID:32376792|PMID:33424531|PMID:34426522|PMID:34567078|PMID:35896380|PMID:36133075|PMID:37223130|PMID:9536098
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0111198	autosomal dominant distal hereditary motor neuronopathy		ISO	RGD:1322801	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant	
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:10534	stomach cancer		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:16199547|PMID:17572665|PMID:17576681|PMID:19118816|PMID:21705420|PMID:23623387|PMID:24033266|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28051077|PMID:28492532|PMID:28859335|PMID:29518270|PMID:30740813|PMID:33424531|PMID:35225887|PMID:36133075|PMID:9536098
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:10892	hypospadias		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:1115	sarcoma		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spinal muscular atrophy	PMID:25741868|PMID:28492532
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:2030	anxiety disorder		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:2394	ovarian cancer		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:3275	thymoma		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:26467025|PMID:28492532
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease	PMID:17572665|PMID:17576681|PMID:19118816|PMID:23623387|PMID:25299611|PMID:25741868|PMID:28492532|PMID:30740813|PMID:32376792|PMID:9536098
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:4362	cervical cancer		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:480	movement disease		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:5041	esophageal cancer		ISO	RGD:1322801	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:630	genetic disease		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17576681|PMID:21705420|PMID:23623387|PMID:25382069|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29342275|PMID:29650794|PMID:30552426|PMID:30740813|PMID:32268254|PMID:32376792|PMID:34426522|PMID:37223130|PMID:9536098
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322801	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:26467025|PMID:28492532
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532
8831464	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9256	colorectal cancer		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:26467025|PMID:28492532
8831491	Lpar6	lysophosphatidic acid receptor 6	gene	DOID:0110698	hypotrichosis 1		ISO	RGD:1349646	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18297070
8831491	Lpar6	lysophosphatidic acid receptor 6	gene	DOID:0110705	hypotrichosis 8		ISO	RGD:1349646	D	RGD:7240710	20220216	OMIM			
8831491	Lpar6	lysophosphatidic acid receptor 6	gene	DOID:4535	hypotrichosis		ISO	RGD:1349646	D	RGD:9068941	20220217	CTD		CTD Direct Evidence: marker/mechanism	PMID:18297072
8831491	Lpar6	lysophosphatidic acid receptor 6	gene	DOID:768	retinoblastoma		ISO	RGD:1349646	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma	PMID:12541220|PMID:15877282|PMID:17096365|PMID:17301081|PMID:21505449|PMID:22909775|PMID:23301675|PMID:25640679|PMID:26475597|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255
8831496	Ccdc34	coiled-coil domain containing 34	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8831496	Ccdc34	coiled-coil domain containing 34	gene	DOID:0070575	spermatogenic failure 76		ISO	RGD:1606993	D	RGD:7240710	20221102	OMIM			
8831496	Ccdc34	coiled-coil domain containing 34	gene	DOID:0070575	spermatogenic failure 76		ISO	RGD:1606993	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 76	
8831496	Ccdc34	coiled-coil domain containing 34	gene	DOID:0111910	spermatogenic failure		ISO	RGD:1619187	D	RGD:9068941	20230323	MouseDO			
8831496	Ccdc34	coiled-coil domain containing 34	gene	DOID:10534	stomach cancer		ISO	RGD:1606993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8831496	Ccdc34	coiled-coil domain containing 34	gene	DOID:1115	sarcoma		ISO	RGD:1606993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8831496	Ccdc34	coiled-coil domain containing 34	gene	DOID:3275	thymoma		ISO	RGD:1606993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8831496	Ccdc34	coiled-coil domain containing 34	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8831496	Ccdc34	coiled-coil domain containing 34	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831496	Ccdc34	coiled-coil domain containing 34	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8831533	Gid8	GID complex subunit 8 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8831533	Gid8	GID complex subunit 8 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1346039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8831533	Gid8	GID complex subunit 8 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1346039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8831533	Gid8	GID complex subunit 8 homolog	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1346039	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
8831533	Gid8	GID complex subunit 8 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831553	Fadd	Fas associated via death domain	gene	DOID:0060108	brain glioma	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:27255231|REF_RGD_ID:13792502
8831553	Fadd	Fas associated via death domain	gene	DOID:0060482	oculoauricular syndrome		ISO	RGD:1345195	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17656375
8831553	Fadd	Fas associated via death domain	gene	DOID:0061060	immunodeficiency 90		ISO	RGD:1345195	D	RGD:7240710	20180130	OMIM			
8831553	Fadd	Fas associated via death domain	gene	DOID:0061060	immunodeficiency 90		ISO	RGD:1345195	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FADD-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 90 WITH ENCEPHALOPATHY, FUNCTIONAL HYPOSPLENIA, AND HEPATIC DYSFUNCTION | ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations	PMID:25741868|PMID:28492532
8831553	Fadd	Fas associated via death domain	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1345195	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17656375
8831553	Fadd	Fas associated via death domain	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1345195	D	RGD:9068941	20200609	RGD			PMID:16085017|REF_RGD_ID:13782385
8831553	Fadd	Fas associated via death domain	gene	DOID:10763	hypertension	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:24355328|REF_RGD_ID:11344883
8831553	Fadd	Fas associated via death domain	gene	DOID:11132	prostatic hypertrophy	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:27441629|REF_RGD_ID:13792501
8831553	Fadd	Fas associated via death domain	gene	DOID:1240	leukemia		ISO	RGD:1345195	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs7939734 (human)	PMID:22244917|REF_RGD_ID:11341800
8831553	Fadd	Fas associated via death domain	gene	DOID:14221	abdominal obesity-metabolic syndrome 1	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:27131981|REF_RGD_ID:13792503
8831553	Fadd	Fas associated via death domain	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:30138765|REF_RGD_ID:13792497
8831553	Fadd	Fas associated via death domain	gene	DOID:224	transient cerebral ischemia		ISO	RGD:628700	D	RGD:9068941	20220527	RGD		mRNA,protein:increased expression:cerebral cortex:	PMID:18096138|REF_RGD_ID:4142863
8831553	Fadd	Fas associated via death domain	gene	DOID:2560	morphine dependence	severity	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:21088039|REF_RGD_ID:11341805
8831553	Fadd	Fas associated via death domain	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:23378241|REF_RGD_ID:11344885
8831553	Fadd	Fas associated via death domain	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:732106	D	RGD:9068941	20200609	RGD			PMID:18950622|REF_RGD_ID:11341807
8831553	Fadd	Fas associated via death domain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831553	Fadd	Fas associated via death domain	gene	DOID:630	genetic disease		ISO	RGD:1345195	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8831553	Fadd	Fas associated via death domain	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:23574812|REF_RGD_ID:11344882
8831553	Fadd	Fas associated via death domain	gene	DOID:9000288	Chronic Intermittent Hypoxia	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:26769958|REF_RGD_ID:13792505
8831553	Fadd	Fas associated via death domain	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1345195	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16450001
8831553	Fadd	Fas associated via death domain	gene	DOID:9001349	Stomatognathic Diseases		ISO	RGD:1345195	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17656375
8831553	Fadd	Fas associated via death domain	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:23423194|REF_RGD_ID:8661760
8831553	Fadd	Fas associated via death domain	gene	DOID:9003676	Brain Hypoxia-Ischemia	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:29635023|REF_RGD_ID:13782292
8831553	Fadd	Fas associated via death domain	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD		associated with Shock, Hemorrhagic	PMID:24122010|REF_RGD_ID:11341811
8831553	Fadd	Fas associated via death domain	gene	DOID:9004786	Carbon Tetrachloride Poisoning	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:25687490|REF_RGD_ID:11341810
8831553	Fadd	Fas associated via death domain	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:628700	D	RGD:9068941	20200609	RGD		protein:increased expression:heart left ventricle	PMID:23657904|REF_RGD_ID:11344884
8831553	Fadd	Fas associated via death domain	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:25447754|PMID:26062544|REF_RGD_ID:10053709|REF_RGD_ID:11341803
8831553	Fadd	Fas associated via death domain	gene	DOID:9007480	Hyperoxia		ISO	RGD:628700	D	RGD:9068941	20200609	RGD		protein:increased expression:thalamus	PMID:19107989|REF_RGD_ID:8662854
8831553	Fadd	Fas associated via death domain	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:732106	D	RGD:9068941	20200609	RGD			PMID:26038570|REF_RGD_ID:11341801
8831553	Fadd	Fas associated via death domain	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:26948086|REF_RGD_ID:13792504
8831553	Fadd	Fas associated via death domain	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1345195	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17656375
8831553	Fadd	Fas associated via death domain	gene	DOID:9009219	Diabetic Embryopathy		ISO	RGD:732106	D	RGD:9068941	20200609	RGD			PMID:26419589|REF_RGD_ID:13792560
8831553	Fadd	Fas associated via death domain	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1345195	D	RGD:9068941	20200609	RGD			PMID:15520222|REF_RGD_ID:11341799
8831553	Fadd	Fas associated via death domain	gene	DOID:9970	obesity		ISO	RGD:628700	D	RGD:9068941	20200609	RGD		protein:increased expression:heart left ventricle	PMID:18202171|REF_RGD_ID:2293027
8831559	Flacc1	flagellum associated containing coiled-coil domains 1	gene	DOID:10327	anthracosis		ISO	RGD:1343894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394417
8831559	Flacc1	flagellum associated containing coiled-coil domains 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8831559	Flacc1	flagellum associated containing coiled-coil domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1343894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8831559	Flacc1	flagellum associated containing coiled-coil domains 1	gene	DOID:1909	melanoma		ISO	RGD:1343894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8831559	Flacc1	flagellum associated containing coiled-coil domains 1	gene	DOID:3275	thymoma		ISO	RGD:1343894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8831559	Flacc1	flagellum associated containing coiled-coil domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8831559	Flacc1	flagellum associated containing coiled-coil domains 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8831559	Flacc1	flagellum associated containing coiled-coil domains 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1343894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
8831559	Flacc1	flagellum associated containing coiled-coil domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8831578	Pigv	phosphatidylinositol glycan anchor biosynthesis class V	gene	DOID:0070431	hyperphosphatasia with impaired intellectual development syndrome		ISO	RGD:1349310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MABRY SYNDROME	PMID:25741868|PMID:28492532|PMID:28688840|PMID:36064943|PMID:37863628
8831578	Pigv	phosphatidylinositol glycan anchor biosynthesis class V	gene	DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1		ISO	RGD:1349310	D	RGD:7240710	20180130	OMIM			
8831578	Pigv	phosphatidylinositol glycan anchor biosynthesis class V	gene	DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1		ISO	RGD:1349310	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 | ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 | ClinVar Annotator: match by term: PIGV-related condition	PMID:20802478|PMID:21739589|PMID:22228761|PMID:22315194|PMID:24033266|PMID:24129430|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28688840|PMID:36064943|PMID:37863628
8831578	Pigv	phosphatidylinositol glycan anchor biosynthesis class V	gene	DOID:0080036	SOST-related sclerosing bone dysplasia		ISO	RGD:1349310	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Elevated alkaline phosphatase	PMID:28492532
8831578	Pigv	phosphatidylinositol glycan anchor biosynthesis class V	gene	DOID:10534	stomach cancer		ISO	RGD:1349310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8831578	Pigv	phosphatidylinositol glycan anchor biosynthesis class V	gene	DOID:1115	sarcoma		ISO	RGD:1349310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8831578	Pigv	phosphatidylinositol glycan anchor biosynthesis class V	gene	DOID:5041	esophageal cancer		ISO	RGD:1349310	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8831578	Pigv	phosphatidylinositol glycan anchor biosynthesis class V	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831578	Pigv	phosphatidylinositol glycan anchor biosynthesis class V	gene	DOID:630	genetic disease		ISO	RGD:1349310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532|PMID:28817240
8831578	Pigv	phosphatidylinositol glycan anchor biosynthesis class V	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8831598	Poln	DNA polymerase nu	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8831598	Poln	DNA polymerase nu	gene	DOID:10283	prostate cancer		ISO	RGD:1354283	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8831598	Poln	DNA polymerase nu	gene	DOID:10283	prostate cancer		ISO	RGD:1354283	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8831598	Poln	DNA polymerase nu	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8831598	Poln	DNA polymerase nu	gene	DOID:1115	sarcoma		ISO	RGD:1354283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8831598	Poln	DNA polymerase nu	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8831598	Poln	DNA polymerase nu	gene	DOID:3070	high grade glioma		ISO	RGD:1354283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8831598	Poln	DNA polymerase nu	gene	DOID:4362	cervical cancer		ISO	RGD:1354283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8831598	Poln	DNA polymerase nu	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8831598	Poln	DNA polymerase nu	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831598	Poln	DNA polymerase nu	gene	DOID:6039	uveal melanoma		ISO	RGD:1354283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8831598	Poln	DNA polymerase nu	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8831598	Poln	DNA polymerase nu	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8831598	Poln	DNA polymerase nu	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8831598	Poln	DNA polymerase nu	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8831598	Poln	DNA polymerase nu	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8831627	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8831627	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:10534	stomach cancer		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8831627	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8831627	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:1324	lung cancer		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8831627	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:1909	melanoma		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8831627	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8831627	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:3275	thymoma		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8831627	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8831627	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831627	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8831627	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8831627	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	PMID:25741868
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318126	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:0061212	hypocholesteremia		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocholesterolemia	PMID:25741868
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:0061215	hepatic fibrosis		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic fibrosis	PMID:25741868
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1318126	D	RGD:9068941	20200609	RGD			PMID:15094225|REF_RGD_ID:1581245
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1318126	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:35654975
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:0111062	familial hypobetalipoproteinemia 1		ISO	RGD:1318126	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Apolipoprotein B deficiency | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1	PMID:10446076|PMID:10679949|PMID:10946006|PMID:12630961|PMID:1439810|PMID:16143868|PMID:16199547|PMID:16721486|PMID:17132287|PMID:17275380|PMID:17576681|PMID:18027103|PMID:18611256|PMID:20592474|PMID:21394827|PMID:22236406|PMID:23043934|PMID:23475612|PMID:24842304|PMID:25108285|PMID:25741868|PMID:27170061|PMID:27271787|PMID:27487388|PMID:27578136|PMID:28492532|PMID:28818680|PMID:2903181|PMID:30522860|PMID:31964843|PMID:32041611|PMID:32483926|PMID:33258201|PMID:33994405|PMID:37206948|PMID:7782284|PMID:8111381|PMID:8361539|PMID:8533758|PMID:8939939|PMID:9536098|PMID:9671739
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:0111062	familial hypobetalipoproteinemia 1		ISO	RGD:1318126	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Apolipoprotein B deficiency | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1	PMID:25741868|PMID:28492532
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:10763	hypertension	onset	ISO	RGD:1318126	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-493G>T	PMID:16328015|REF_RGD_ID:1625485
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:13250	diarrhea		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:25741868
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:1386	abetalipoproteinemia		ISO	RGD:1318126	D	RGD:7240710	20190315	OMIM			
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:1386	abetalipoproteinemia		ISO	RGD:1318126	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ABETALIPOPROTEINEMIA | ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: MTTP-related condition	PMID:10679949|PMID:10946006|PMID:12630961|PMID:16143868|PMID:16199547|PMID:17275380|PMID:17576681|PMID:18611256|PMID:19066957|PMID:21394827|PMID:23043934|PMID:23475612|PMID:24842304|PMID:25108285|PMID:25741868|PMID:26224785|PMID:27578136|PMID:28492532|PMID:30522860|PMID:30782561|PMID:31914726|PMID:31964843|PMID:32041611|PMID:33258201|PMID:33994405|PMID:37206948|PMID:37484212|PMID:8111381|PMID:8361539|PMID:8533758|PMID:8939939|PMID:9536098|PMID:9671739
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:14221	abdominal obesity-metabolic syndrome 1		ISO	RGD:1318126	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1	PMID:25741868|PMID:28492532
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:1909	melanoma		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:2018	hyperinsulinism	susceptibility	ISO	RGD:1318126	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-493G>T	PMID:11849654|REF_RGD_ID:1625490
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:3275	thymoma		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1318126	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:5082	liver cirrhosis		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic fibrosis	PMID:25741868
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:630	genetic disease		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:1318126	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-493G>T	PMID:15136504|REF_RGD_ID:1625487
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:1318126	D	RGD:9068941	20200609	RGD			PMID:17215532|REF_RGD_ID:1625482
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:9006098	Abetalipoproteinemia Neuropathy		ISO	RGD:1318126	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy	PMID:25741868|PMID:28492532
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1318126	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Metabolic syndrome X	PMID:25741868|PMID:28492532
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoalbuminemia	PMID:25741868
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:9351	diabetes mellitus		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:9452	steatotic liver disease		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:9970	obesity	susceptibility	ISO	RGD:1318126	D	RGD:9068941	20200609	RGD		DNA:polymorphisms	PMID:15635487|REF_RGD_ID:1625486
8831646	Mttp	microsomal triglyceride transfer protein	gene	DOID:9993	hypoglycemia		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
8831670	Tp73	tumor protein p73	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1316062	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437031
8831670	Tp73	tumor protein p73	gene	DOID:0050861	colorectal adenocarcinoma	exacerbates	ISO	RGD:1316062	D	RGD:9068941	20220128	RGD		protein:increased expression:colon (human)	PMID:19956069|REF_RGD_ID:151347585
8831670	Tp73	tumor protein p73	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8831670	Tp73	tumor protein p73	gene	DOID:0060058	lymphoma		ISO	RGD:1316062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8831670	Tp73	tumor protein p73	gene	DOID:0060081	triple-negative breast cancer		ISO	RGD:1316062	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:17446929|REF_RGD_ID:2290583
8831670	Tp73	tumor protein p73	gene	DOID:0070760	primary ciliary dyskinesia 47 and lissencephaly		ISO	RGD:1316062	D	RGD:7240710	20210818	OMIM			
8831670	Tp73	tumor protein p73	gene	DOID:0070760	primary ciliary dyskinesia 47 and lissencephaly		ISO	RGD:1316062	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly	PMID:25741868|PMID:34077761
8831670	Tp73	tumor protein p73	gene	DOID:10283	prostate cancer		ISO	RGD:1316062	D	RGD:9068941	20200609	RGD		mRNA:alternative forms	PMID:15492805|REF_RGD_ID:2298529
8831670	Tp73	tumor protein p73	gene	DOID:10286	prostate carcinoma	disease_progression	ISO	RGD:1316062	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:prostate gland	PMID:16254107|REF_RGD_ID:2290587
8831670	Tp73	tumor protein p73	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1316062	D	RGD:9068941	20220128	RGD		mRNA:decreased expression:stomach (human)	PMID:16190407|REF_RGD_ID:151347595
8831670	Tp73	tumor protein p73	gene	DOID:10754	otitis media		ISO	RGD:1316063	D	RGD:9068941	20220825	MouseDO		OMIM:166760	
8831670	Tp73	tumor protein p73	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8831670	Tp73	tumor protein p73	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1316062	D	RGD:9068941	20200609	RGD		mRNA:increased expression:urinary bladder	PMID:10383132|REF_RGD_ID:2291836
8831670	Tp73	tumor protein p73	gene	DOID:11132	prostatic hypertrophy		ISO	RGD:1316062	D	RGD:9068941	20200609	RGD		mRNA:alternative forms	PMID:15492805|REF_RGD_ID:2298529
8831670	Tp73	tumor protein p73	gene	DOID:1324	lung cancer		ISO	RGD:1316062	D	RGD:9068941	20200609	RGD			PMID:11139314|REF_RGD_ID:2291830
8831670	Tp73	tumor protein p73	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1316062	D	RGD:9068941	20220128	RGD		DNA:SNPs:exon 2:4G>A, 14C>T (human)	PMID:32063627|REF_RGD_ID:151347583
8831670	Tp73	tumor protein p73	gene	DOID:1612	breast cancer		ISO	RGD:1316062	D	RGD:9068941	20200609	RGD			PMID:11139314|REF_RGD_ID:2291830
8831670	Tp73	tumor protein p73	gene	DOID:1612	breast cancer		ISO	RGD:1316062	D	RGD:9068941	20200609	RGD		DNA, mRNA:loss of heterozygosity, decreased expression:breast	PMID:11103943|REF_RGD_ID:2291831
8831670	Tp73	tumor protein p73	gene	DOID:1612	breast cancer		ISO	RGD:1316062	D	RGD:9068941	20220128	RGD		DNA:deletion:intron:IVS1-489_-417del (human)	PMID:14732927|REF_RGD_ID:151347588
8831670	Tp73	tumor protein p73	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1316062	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:16950799|REF_RGD_ID:2290584
8831670	Tp73	tumor protein p73	gene	DOID:1612	breast cancer	no_association	ISO	RGD:1316062	D	RGD:9068941	20200609	RGD		DNA:mutations	PMID:10634515|REF_RGD_ID:2291835
8831670	Tp73	tumor protein p73	gene	DOID:2154	nephroblastoma		ISO	RGD:1316062	D	RGD:9068941	20200609	RGD		DNA:loss of heterozygosity:kidney	PMID:10760569|REF_RGD_ID:2291834
8831670	Tp73	tumor protein p73	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316062	D	RGD:9068941	20220128	RGD		mRNA:increased expression:colon (human)	PMID:30420492|REF_RGD_ID:151347580
8831670	Tp73	tumor protein p73	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:1316062	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:15492852|REF_RGD_ID:2290588
8831670	Tp73	tumor protein p73	gene	DOID:2938	Epstein-Barr virus infectious disease		ISO	RGD:1316062	D	RGD:9068941	20220128	RGD		associated with stomach carcinoma;DNA:hypermethylation:promoter (human)	PMID:23829175|REF_RGD_ID:151347586
8831670	Tp73	tumor protein p73	gene	DOID:3007	breast ductal carcinoma		ISO	RGD:1316062	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:breast	PMID:17011986|REF_RGD_ID:2290492
8831670	Tp73	tumor protein p73	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316062	D	RGD:9068941	20220128	RGD		mRNA:increased expression:lung (human)	PMID:30420492|REF_RGD_ID:151347580
8831670	Tp73	tumor protein p73	gene	DOID:3907	lung squamous cell carcinoma	treatment	ISO	RGD:1316062	D	RGD:9068941	20230216	RGD		DNA:SNP:: rs2273953(human)	PMID:27246533|REF_RGD_ID:151347584
8831670	Tp73	tumor protein p73	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1316062	D	RGD:9068941	20220128	RGD		DNA:SNP:intron: (rs3765701) (human)	PMID:21965272|REF_RGD_ID:151347589
8831670	Tp73	tumor protein p73	gene	DOID:4051	alveolar rhabdomyosarcoma		ISO	RGD:1316062	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21245298
8831670	Tp73	tumor protein p73	gene	DOID:4362	cervical cancer	susceptibility	ISO	RGD:1316062	D	RGD:9068941	20220128	RGD		DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human)	PMID:30420492|REF_RGD_ID:151347580
8831670	Tp73	tumor protein p73	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1316062	D	RGD:9068941	20200609	RGD			PMID:9796703|REF_RGD_ID:2291837
8831670	Tp73	tumor protein p73	gene	DOID:5041	esophageal cancer		ISO	RGD:1316062	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8831670	Tp73	tumor protein p73	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1316062	D	RGD:9068941	20220128	RGD		DNA:mutations:multiple: (human)	PMID:26168399|REF_RGD_ID:151347582
8831670	Tp73	tumor protein p73	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831670	Tp73	tumor protein p73	gene	DOID:630	genetic disease		ISO	RGD:1316062	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8831670	Tp73	tumor protein p73	gene	DOID:657	adenoma		ISO	RGD:1316062	D	RGD:9068941	20220128	RGD		DNA:hypermethylation:promoter: (human)	PMID:29945573|REF_RGD_ID:151347590
8831670	Tp73	tumor protein p73	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8831670	Tp73	tumor protein p73	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1316062	D	RGD:9068941	20220128	RGD		protein:decreased phosphorylation:liver (human)	PMID:27359056|REF_RGD_ID:151347579
8831670	Tp73	tumor protein p73	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1316062	D	RGD:9068941	20220128	RGD		human cells in a mouse model	PMID:25371988|REF_RGD_ID:151347596
8831670	Tp73	tumor protein p73	gene	DOID:769	neuroblastoma	no_association	ISO	RGD:1316062	D	RGD:9068941	20200609	RGD			PMID:9288759|REF_RGD_ID:1599583
8831670	Tp73	tumor protein p73	gene	DOID:8923	skin melanoma		ISO	RGD:1316062	D	RGD:9068941	20220128	RGD		mRNA:increased expression:skin of body (human)	PMID:30420492|REF_RGD_ID:151347580
8831670	Tp73	tumor protein p73	gene	DOID:8991	cervix uteri carcinoma in situ	disease_progression	ISO	RGD:1316062	D	RGD:9068941	20200609	RGD		mRNA:increased expression:uterine cervix	PMID:11870517|REF_RGD_ID:2290589
8831670	Tp73	tumor protein p73	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1316062	D	RGD:9068941	20200609	RGD			PMID:11051237|REF_RGD_ID:2291833
8831670	Tp73	tumor protein p73	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1316062	D	RGD:9068941	20200609	RGD		DNA:loss of heterozygosity:ovary	PMID:10760569|REF_RGD_ID:2291834
8831670	Tp73	tumor protein p73	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:1316062	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:12928725|REF_RGD_ID:2298530
8831670	Tp73	tumor protein p73	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1316062	D	RGD:9068941	20200609	RGD		mRNA, protein:splice variant, increased expression:uterine cervix	PMID:11870517|REF_RGD_ID:2290589
8831670	Tp73	tumor protein p73	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1316062	D	RGD:9068941	20200609	RGD		mRNA:increased expression:uterine cervix	PMID:17504382|REF_RGD_ID:2290582
8831670	Tp73	tumor protein p73	gene	DOID:9003373	Uterine Cervical Neoplasms	disease_progression	ISO	RGD:1316062	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:16818688|REF_RGD_ID:2290586
8831670	Tp73	tumor protein p73	gene	DOID:9003566	Mesothelioma		ISO	RGD:1316062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8831670	Tp73	tumor protein p73	gene	DOID:9003814	Neurologic Manifestations		ISO	RGD:1316063	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24190996
8831670	Tp73	tumor protein p73	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8831670	Tp73	tumor protein p73	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316062	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental Disorder	
8831670	Tp73	tumor protein p73	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1316062	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28212736
8831670	Tp73	tumor protein p73	gene	DOID:9005372	Inflammation		ISO	RGD:1316062	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28212736
8831670	Tp73	tumor protein p73	gene	DOID:9005804	Vulvar Neoplasms		ISO	RGD:1316062	D	RGD:9068941	20200609	RGD		mRNA, protein:splice variant, increased expression:vulva	PMID:11720444|REF_RGD_ID:2290590
8831670	Tp73	tumor protein p73	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1316063	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24190996
8831670	Tp73	tumor protein p73	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1316062	D	RGD:9068941	20200609	RGD		DNA:hypermethylation	PMID:16928264|REF_RGD_ID:2290585
8831670	Tp73	tumor protein p73	gene	DOID:9007715	Endometrial Neoplasms	susceptibility	ISO	RGD:1316062	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon	PMID:15723718|REF_RGD_ID:2298528
8831670	Tp73	tumor protein p73	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316062	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28212736
8831670	Tp73	tumor protein p73	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8831670	Tp73	tumor protein p73	gene	DOID:9256	colorectal cancer		ISO	RGD:1316062	D	RGD:9068941	20220128	RGD		DNA:deletion:intron:IVS1-489_-417del (human)	PMID:14732927|REF_RGD_ID:151347588
8831670	Tp73	tumor protein p73	gene	DOID:9256	colorectal cancer		ISO	RGD:1316062	D	RGD:9068941	20220128	RGD		DNA:hypermethylation:promoter: (human)	PMID:29945573|REF_RGD_ID:151347590
8831670	Tp73	tumor protein p73	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1316062	D	RGD:9068941	20220128	RGD		DNA:SNP:intron:g.3636226T>C  (rs747828) (human)	PMID:31090204|REF_RGD_ID:151347587
8831670	Tp73	tumor protein p73	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1316062	D	RGD:9068941	20220128	RGD		DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human)	PMID:21672615|PMID:30420492|REF_RGD_ID:151347580|REF_RGD_ID:151347581
8831700	Khnyn	KH and NYN domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8831700	Khnyn	KH and NYN domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:1316201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8831700	Khnyn	KH and NYN domain containing	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8831700	Khnyn	KH and NYN domain containing	gene	DOID:3070	high grade glioma		ISO	RGD:1316201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8831700	Khnyn	KH and NYN domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1316201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8831700	Khnyn	KH and NYN domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831700	Khnyn	KH and NYN domain containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8831714	Map3k7cl	MAP3K7 C-terminal like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831714	Map3k7cl	MAP3K7 C-terminal like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:0060243	stuttering		ISO	RGD:1343936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: STAMMERING	PMID:25741868|PMID:28492532
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:0080559	congenital disorder of glycosylation Ig		ISO	RGD:1343936	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation	PMID:25741868|PMID:32979048
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:0110802	hereditary spastic paraplegia 50		ISO	RGD:1343936	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: AP-4 deficiency syndrome	PMID:25741868|PMID:28492532
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:0110803	hereditary spastic paraplegia 51		ISO	RGD:1343936	D	RGD:7240710	20180130	OMIM			
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:0110803	hereditary spastic paraplegia 51		ISO	RGD:1343936	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 4 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 51	PMID:25167861|PMID:25741868|PMID:26544806|PMID:28492532|PMID:32979048
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:1059	intellectual disability		ISO	RGD:1343936	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:10970	spastic quadriplegic cerebral palsy		ISO	RGD:1343936	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic quadriplegic cerebral palsy	PMID:25167861|PMID:25741868|PMID:26544806|PMID:28492532
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:1826	epilepsy		ISO	RGD:1343936	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25167861|PMID:25741868|PMID:26544806|PMID:28492532
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1343936	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25167861|PMID:25741868|PMID:26544806|PMID:28492532
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1343936	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:18414213|PMID:25741868|PMID:26544806|PMID:28492532
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1343936	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:26544806|PMID:28492532
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:543	dystonia		ISO	RGD:1343936	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25167861|PMID:25741868|PMID:26544806|PMID:28492532
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:607	paraplegia		ISO	RGD:1343936	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:16199547|PMID:17576681|PMID:21620353|PMID:21937992|PMID:23472171|PMID:25167861|PMID:25741868|PMID:26544806|PMID:28492532|PMID:32979048|PMID:35499206|PMID:9536098
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:630	genetic disease		ISO	RGD:1343936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:870	neuropathy		ISO	RGD:1343936	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1343936	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25167861|PMID:25741868|PMID:26544806|PMID:28492532
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:9001722	Dysarthria		ISO	RGD:1343936	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25167861|PMID:25741868|PMID:26544806|PMID:28492532
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:9005717	Familial Persistent Stuttering 1		ISO	RGD:1343936	D	RGD:7240710	20190315	OMIM			
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:9005717	Familial Persistent Stuttering 1		ISO	RGD:1343936	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AP4E1-related condition | ClinVar Annotator: match by term: Stuttering, familial persistent, 1	PMID:25741868|PMID:26544806|PMID:28492532
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1343936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:21620353|PMID:21937992|PMID:23472171|PMID:25741868|PMID:28492532|PMID:38374194
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1343936	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25167861|PMID:25741868|PMID:26544806|PMID:28492532
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1343936	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25167861|PMID:25741868|PMID:26544806|PMID:28492532
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1343936	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8831740	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8831776	Mylk4	myosin light chain kinase family member 4	gene	DOID:10534	stomach cancer		ISO	RGD:1604705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8831776	Mylk4	myosin light chain kinase family member 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8831776	Mylk4	myosin light chain kinase family member 4	gene	DOID:1115	sarcoma		ISO	RGD:1604705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8831776	Mylk4	myosin light chain kinase family member 4	gene	DOID:1909	melanoma		ISO	RGD:1604705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8831776	Mylk4	myosin light chain kinase family member 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1604705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8831776	Mylk4	myosin light chain kinase family member 4	gene	DOID:2843	long QT syndrome		ISO	RGD:1604705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8831776	Mylk4	myosin light chain kinase family member 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8831776	Mylk4	myosin light chain kinase family member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1604705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8831776	Mylk4	myosin light chain kinase family member 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8831776	Mylk4	myosin light chain kinase family member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831776	Mylk4	myosin light chain kinase family member 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1604705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8831776	Mylk4	myosin light chain kinase family member 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8831776	Mylk4	myosin light chain kinase family member 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8831776	Mylk4	myosin light chain kinase family member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8831776	Mylk4	myosin light chain kinase family member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8831776	Mylk4	myosin light chain kinase family member 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8831810	Adam22	ADAM metallopeptidase domain 22	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8831810	Adam22	ADAM metallopeptidase domain 22	gene	DOID:0080434	developmental and epileptic encephalopathy 61		ISO	RGD:1352892	D	RGD:7240710	20190315	OMIM			
8831810	Adam22	ADAM metallopeptidase domain 22	gene	DOID:0080434	developmental and epileptic encephalopathy 61		ISO	RGD:1352892	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADAM22-related condition | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 61 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 61	PMID:25741868|PMID:28492532
8831810	Adam22	ADAM metallopeptidase domain 22	gene	DOID:10534	stomach cancer		ISO	RGD:1352892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8831810	Adam22	ADAM metallopeptidase domain 22	gene	DOID:1324	lung cancer		ISO	RGD:1352892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8831810	Adam22	ADAM metallopeptidase domain 22	gene	DOID:1909	melanoma		ISO	RGD:1352892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8831810	Adam22	ADAM metallopeptidase domain 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831810	Adam22	ADAM metallopeptidase domain 22	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8831810	Adam22	ADAM metallopeptidase domain 22	gene	DOID:630	genetic disease		ISO	RGD:1352892	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8831810	Adam22	ADAM metallopeptidase domain 22	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8831810	Adam22	ADAM metallopeptidase domain 22	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8831853	Ift74	intraflagellar transport 74	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1623977	D	RGD:9068941	20220825	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
8831853	Ift74	intraflagellar transport 74	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:17576681|PMID:28492532|PMID:29068549|PMID:9536098
8831853	Ift74	intraflagellar transport 74	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1342560	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8831853	Ift74	intraflagellar transport 74	gene	DOID:0081011	Bardet-Biedl syndrome 22		ISO	RGD:1342560	D	RGD:7240710	20190315	OMIM			
8831853	Ift74	intraflagellar transport 74	gene	DOID:0081011	Bardet-Biedl syndrome 22		ISO	RGD:1342560	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 22 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 22	PMID:17576681|PMID:25741868|PMID:27486776|PMID:28492532|PMID:32144365|PMID:33531668|PMID:33748949|PMID:9536098
8831853	Ift74	intraflagellar transport 74	gene	DOID:0110092	short-rib thoracic dysplasia 6 with or without polydactyly		ISO	RGD:1342560	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly	PMID:17576681|PMID:28492532|PMID:29068549|PMID:9536098
8831853	Ift74	intraflagellar transport 74	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:0112352	spermatogenic failure 58		ISO	RGD:1342560	D	RGD:7240710	20211110	OMIM			
8831853	Ift74	intraflagellar transport 74	gene	DOID:0112352	spermatogenic failure 58		ISO	RGD:1342560	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 58	PMID:25741868|PMID:28492532|PMID:33689014
8831853	Ift74	intraflagellar transport 74	gene	DOID:10534	stomach cancer		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:10907	microcephaly		ISO	RGD:1342560	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:1115	sarcoma		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8831853	Ift74	intraflagellar transport 74	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:25741868|PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:11830	myopia		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:1596	depressive disorder		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:1909	melanoma		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1342560	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:25741868|PMID:28492532|PMID:33531668|PMID:34539760
8831853	Ift74	intraflagellar transport 74	gene	DOID:2030	anxiety disorder		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:2394	ovarian cancer		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8831853	Ift74	intraflagellar transport 74	gene	DOID:2841	asthma		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:3275	thymoma		ISO	RGD:1342560	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8831853	Ift74	intraflagellar transport 74	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8831853	Ift74	intraflagellar transport 74	gene	DOID:4362	cervical cancer		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:5041	esophageal cancer		ISO	RGD:1342560	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:5679	retinal disease		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	
8831853	Ift74	intraflagellar transport 74	gene	DOID:5723	optic atrophy		ISO	RGD:1342560	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:630	genetic disease		ISO	RGD:1342560	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33531668|PMID:34539760
8831853	Ift74	intraflagellar transport 74	gene	DOID:8501	fundus dystrophy		ISO	RGD:1342560	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:9000733	Joubert Syndrome 40		ISO	RGD:1342560	D	RGD:7240710	20211110	OMIM			
8831853	Ift74	intraflagellar transport 74	gene	DOID:9000733	Joubert Syndrome 40		ISO	RGD:1342560	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 40 | ClinVar Annotator: match by term: Joubert syndrome 40	PMID:25741868|PMID:28492532|PMID:31690835|PMID:33531668|PMID:34539760
8831853	Ift74	intraflagellar transport 74	gene	DOID:9001733	Tinnitus		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:9003507	Premature Birth		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:17576681|PMID:28492532|PMID:29068549|PMID:9536098
8831853	Ift74	intraflagellar transport 74	gene	DOID:9005077	Joint Instability		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8831853	Ift74	intraflagellar transport 74	gene	DOID:9008023	Memory Disorders		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8831853	Ift74	intraflagellar transport 74	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:16199547|PMID:28492532|PMID:33531668
8831853	Ift74	intraflagellar transport 74	gene	DOID:9256	colorectal cancer		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:9351	diabetes mellitus		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
8831853	Ift74	intraflagellar transport 74	gene	DOID:9970	obesity		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:0070490	infantile parkinsonism-dystonia 2		ISO	RGD:734009	D	RGD:7240710	20190315	OMIM			
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:0070490	infantile parkinsonism-dystonia 2		ISO	RGD:734009	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Brain dopamine-serotonin vesicular transport disease | ClinVar Annotator: match by term: PARKINSONISM-DYSTONIA, INFANTILE, 2 | ClinVar Annotator: match by term: SLC18A2-related condition	PMID:23363473|PMID:25741868|PMID:26497564|PMID:26539891|PMID:28492532|PMID:28716265|PMID:31618753|PMID:32581362|PMID:34078222|PMID:35002152|PMID:36318270
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:0080855	Parkinsonism		ISO	RGD:734009	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16269145
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:1059	intellectual disability		ISO	RGD:734009	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26497564|PMID:28492532|PMID:28716265|PMID:34078222|PMID:36318270
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:1115	sarcoma		ISO	RGD:734009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:12849	autistic disorder		ISO	RGD:734009	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:26497564|PMID:28492532|PMID:28716265|PMID:34078222|PMID:36318270
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:1324	lung cancer		ISO	RGD:734009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:13548	secondary Parkinson disease		ISO	RGD:734009	D	RGD:9068941	20220707	CTD		CTD Direct Evidence: marker/mechanism	PMID:34774656
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:14330	Parkinson's disease		ISO	RGD:11300	D	RGD:9068941	20200609	RGD			PMID:11463816|REF_RGD_ID:5131163
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:14330	Parkinson's disease		ISO	RGD:3694	D	RGD:9068941	20200609	RGD			PMID:16269145|REF_RGD_ID:5129143
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:14330	Parkinson's disease		ISO	RGD:3694	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:substantia nigra (rat)	PMID:21291984|REF_RGD_ID:5131086
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:14330	Parkinson's disease		ISO	RGD:734009	D	RGD:9068941	20200609	RGD		protein:decreased expression:putamen, caudate nucleus, striatum (human)	PMID:16421508|REF_RGD_ID:5131167
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:14330	Parkinson's disease		ISO	RGD:734009	D	RGD:9068941	20220707	CTD		CTD Direct Evidence: marker/mechanism	PMID:16112329|PMID:34774656
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:14330	Parkinson's disease	resistance	ISO	RGD:734009	D	RGD:9068941	20200609	RGD		DNA:snps:5' utr:g.-103C>A, g.-74C>T, g.-62G>A (human)	PMID:16339215|REF_RGD_ID:5131165
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:1440	Machado-Joseph disease		ISO	RGD:3694	D	RGD:9068941	20200609	RGD		protein:decreased expression:substantia nigra (rat)	PMID:18385100|REF_RGD_ID:5131159
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:1596	depressive disorder		ISO	RGD:11300	D	RGD:9068941	20200609	RGD			PMID:17898223|REF_RGD_ID:5131168
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:1826	epilepsy		ISO	RGD:734009	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26497564|PMID:28492532|PMID:28716265|PMID:34078222|PMID:36318270
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:303	substance-related disorder		ISO	RGD:3694	D	RGD:9068941	20200609	RGD		protein:increased cysteine nitrosylation:striatum, vesicle (rat)	PMID:17683483|REF_RGD_ID:5131179
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:3602	toxic encephalopathy		ISO	RGD:3694	D	RGD:9068941	20200609	RGD		protein:increased expression:thalamus (rat)	PMID:19798748|REF_RGD_ID:5130970
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:4362	cervical cancer		ISO	RGD:734009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:5041	esophageal cancer		ISO	RGD:734009	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:543	dystonia		ISO	RGD:734009	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:26497564|PMID:28492532|PMID:28716265|PMID:34078222|PMID:36318270
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:630	genetic disease		ISO	RGD:734009	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:734009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:863	nervous system disease		ISO	RGD:734009	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12890883
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:734009	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:26497564|PMID:28492532|PMID:28716265|PMID:34078222|PMID:36318270
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:734009	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18643795
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:9005077	Joint Instability		ISO	RGD:734009	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:26497564|PMID:28492532|PMID:28716265|PMID:34078222|PMID:36318270
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:734009	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:26497564|PMID:28492532|PMID:28716265|PMID:34078222|PMID:36318270
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:734009	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:26497564|PMID:28492532|PMID:28716265|PMID:34078222|PMID:36318270
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:3694	D	RGD:9068941	20200609	RGD			PMID:16710474|REF_RGD_ID:2317333
8831882	Slc18a2	solute carrier family 18 member A2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:734009	D	RGD:9068941	20200609	RGD		protein:decreased expression:pancreas (human)	PMID:19223416|REF_RGD_ID:5131199
8831905	Setd5	SET domain containing 5	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8831905	Setd5	SET domain containing 5	gene	DOID:0050567	orofacial cleft		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:28492532
8831905	Setd5	SET domain containing 5	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrioventricular canal defect	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:0050840	cervical dystonia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	
8831905	Setd5	SET domain containing 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8831905	Setd5	SET domain containing 5	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1321331	D	RGD:9068941	20260521	RGD			PMID:30655503|REF_RGD_ID:155804255
8831905	Setd5	SET domain containing 5	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:0060249	scoliosis		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:24680889|PMID:25741868|PMID:27375234|PMID:28492532|PMID:28881385
8831905	Setd5	SET domain containing 5	gene	DOID:0060260	ptosis		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:0060261	congenital ptosis		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ptosis	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:0060320	inguinal hernia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	
8831905	Setd5	SET domain containing 5	gene	DOID:0060321	umbilical hernia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868|PMID:38177409
8831905	Setd5	SET domain containing 5	gene	DOID:0060604	ankyloglossia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tongue tie	
8831905	Setd5	SET domain containing 5	gene	DOID:0070053	autosomal dominant intellectual developmental disorder 23		ISO	RGD:1605381	D	RGD:7240710	20180130	OMIM			
8831905	Setd5	SET domain containing 5	gene	DOID:0070053	autosomal dominant intellectual developmental disorder 23		ISO	RGD:1605381	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 23 | ClinVar Annotator: match by term: SETD5-related condition | ClinVar Annotator: match by term: SETD5-related disorder	PMID:24680889|PMID:25741868|PMID:27824329|PMID:28191889|PMID:28191890|PMID:28492532|PMID:29758562|PMID:31337854|PMID:33004838|PMID:35904121|PMID:35982159|PMID:37120078|PMID:38041506
8831905	Setd5	SET domain containing 5	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:28492532
8831905	Setd5	SET domain containing 5	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:0080918	polymicrogyria		ISO	RGD:1605381	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:32581362
8831905	Setd5	SET domain containing 5	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:24680889|PMID:25741868|PMID:27375234|PMID:28492532|PMID:28881385
8831905	Setd5	SET domain containing 5	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868|PMID:28492532
8831905	Setd5	SET domain containing 5	gene	DOID:10283	prostate cancer		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:24680889|PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:10283	prostate cancer	severity	ISO	RGD:1605381	D	RGD:9068941	20230112	RGD			PMID:30616239|REF_RGD_ID:155804256
8831905	Setd5	SET domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8831905	Setd5	SET domain containing 5	gene	DOID:1059	intellectual disability		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: intellectual disability	PMID:24680889|PMID:25741868|PMID:28492532|PMID:38177409
8831905	Setd5	SET domain containing 5	gene	DOID:1059	intellectual disability		ISO	RGD:1605381	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: intellectual disability	PMID:16757948|PMID:17352659|PMID:23020937|PMID:24680889|PMID:25138099|PMID:25741868|PMID:26482601|PMID:27375234|PMID:28492532|PMID:28881385|PMID:31474762|PMID:34374989|PMID:36875494|PMID:38177409
8831905	Setd5	SET domain containing 5	gene	DOID:10907	microcephaly		ISO	RGD:1605381	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8831905	Setd5	SET domain containing 5	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
8831905	Setd5	SET domain containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8831905	Setd5	SET domain containing 5	gene	DOID:11383	cryptorchidism		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism | ClinVar Annotator: match by term: Unilateral cryptorchidism	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:1148	polydactyly		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868|PMID:28881385
8831905	Setd5	SET domain containing 5	gene	DOID:11782	astigmatism		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:24680889|PMID:25741868|PMID:27375234|PMID:28492532|PMID:28881385
8831905	Setd5	SET domain containing 5	gene	DOID:11830	myopia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:12449	aplastic anemia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aplastic anemia	PMID:24680889|PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:12849	autistic disorder		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:24680889|PMID:25741868|PMID:28191889|PMID:28492532|PMID:29758562|PMID:33004838|PMID:35982159
8831905	Setd5	SET domain containing 5	gene	DOID:13141	uveitis		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveitis	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:1324	lung cancer		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8831905	Setd5	SET domain containing 5	gene	DOID:13620	patent foramen ovale		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8831905	Setd5	SET domain containing 5	gene	DOID:14780	KBG syndrome		ISO	RGD:1605381	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: KBG syndrome	
8831905	Setd5	SET domain containing 5	gene	DOID:1596	depressive disorder		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:1612	breast cancer		ISO	RGD:1605381	D	RGD:9068941	20230112	RGD			PMID:35063407|REF_RGD_ID:155804257
8831905	Setd5	SET domain containing 5	gene	DOID:1724	duodenal ulcer		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Duodenal ulcer	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:1824	status epilepticus		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:1826	epilepsy		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:29758562
8831905	Setd5	SET domain containing 5	gene	DOID:1909	melanoma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8831905	Setd5	SET domain containing 5	gene	DOID:1924	hypogonadism		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:2030	anxiety disorder		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety | ClinVar Annotator: match by term: anxiety	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:2234	focal epilepsy		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8831905	Setd5	SET domain containing 5	gene	DOID:2340	craniosynostosis		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:38177409
8831905	Setd5	SET domain containing 5	gene	DOID:2355	anemia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:28492532
8831905	Setd5	SET domain containing 5	gene	DOID:3070	high grade glioma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8831905	Setd5	SET domain containing 5	gene	DOID:3326	purpura		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Petechiae	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:1605381	D	RGD:9068941	20230112	RGD			PMID:31981592|REF_RGD_ID:155804254
8831905	Setd5	SET domain containing 5	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:420	hypertrichosis		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868|PMID:28492532
8831905	Setd5	SET domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8831905	Setd5	SET domain containing 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1605381	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8831905	Setd5	SET domain containing 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8831905	Setd5	SET domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8831905	Setd5	SET domain containing 5	gene	DOID:6039	uveal melanoma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8831905	Setd5	SET domain containing 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:630	genetic disease		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24680889|PMID:25741868|PMID:27375234|PMID:28191889|PMID:28492532|PMID:28881385|PMID:29758562|PMID:33004838|PMID:33921431|PMID:35904121|PMID:35982159|PMID:37120078|PMID:39603091
8831905	Setd5	SET domain containing 5	gene	DOID:6406	double outlet right ventricle		ISO	RGD:1321331	D	RGD:9068941	20230112	RGD			PMID:34050709|REF_RGD_ID:155794379
8831905	Setd5	SET domain containing 5	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8831905	Setd5	SET domain containing 5	gene	DOID:850	lung disease		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:24680889|PMID:25741868|PMID:27375234|PMID:28492532|PMID:28881385
8831905	Setd5	SET domain containing 5	gene	DOID:8927	learning disability		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:24680889|PMID:25741868|PMID:27375234|PMID:28492532|PMID:28881385
8831905	Setd5	SET domain containing 5	gene	DOID:9000006	Supraventricular Tachycardia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Supraventricular tachycardia	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:9001031	Retrognathia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:28492532
8831905	Setd5	SET domain containing 5	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28191889|PMID:28492532|PMID:33004838|PMID:35904121|PMID:37120078
8831905	Setd5	SET domain containing 5	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:9001510	Funnel Chest		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:24680889|PMID:25741868|PMID:27375234|PMID:28492532|PMID:28881385
8831905	Setd5	SET domain containing 5	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:24680889|PMID:25741868|PMID:28492532|PMID:34169511
8831905	Setd5	SET domain containing 5	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868|PMID:28492532
8831905	Setd5	SET domain containing 5	gene	DOID:9002569	Overweight		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:9002580	Metatarsus Varus		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metatarsus adductus	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:9003133	Hypertelorism		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:9003507	Premature Birth		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
8831905	Setd5	SET domain containing 5	gene	DOID:9003703	Coxa Valga		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coxa valga	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:9003748	Thumb Deformity		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumb deformity	
8831905	Setd5	SET domain containing 5	gene	DOID:9003816	Macrocephaly		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
8831905	Setd5	SET domain containing 5	gene	DOID:9003837	Au-Kline Syndrome		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kabuki-like syndrome	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605381	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:23020937|PMID:24680889|PMID:25138099|PMID:25741868|PMID:28191889|PMID:28492532|PMID:28990276|PMID:33004838|PMID:35904121|PMID:37120078
8831905	Setd5	SET domain containing 5	gene	DOID:9004507	Hirsutism		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	
8831905	Setd5	SET domain containing 5	gene	DOID:9004538	Hearing Loss		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:24680889|PMID:25741868|PMID:28191889|PMID:28492532|PMID:33004838|PMID:35982159
8831905	Setd5	SET domain containing 5	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	
8831905	Setd5	SET domain containing 5	gene	DOID:9004866	Ataxia		ISO	RGD:1605381	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:24680889|PMID:25741868|PMID:27375234|PMID:28492532|PMID:28881385
8831905	Setd5	SET domain containing 5	gene	DOID:9005274	Polyuria		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyuria	PMID:28492532
8831905	Setd5	SET domain containing 5	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:24680889|PMID:25741868|PMID:28191889|PMID:28492532|PMID:31337854|PMID:33004838|PMID:35982159|PMID:38177409
8831905	Setd5	SET domain containing 5	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1605381	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:16757948|PMID:17352659|PMID:23020937|PMID:24680889|PMID:25138099|PMID:25741868|PMID:28492532|PMID:31474762|PMID:36875494
8831905	Setd5	SET domain containing 5	gene	DOID:9006727	Polydipsia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydipsia	PMID:28492532
8831905	Setd5	SET domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8831905	Setd5	SET domain containing 5	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary artery atresia	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:9007302	Vitreous Hemorrhage		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vitreous hemorrhage	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:9007573	Flatfoot		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:24680889|PMID:25741868|PMID:27375234|PMID:28492532|PMID:28881385
8831905	Setd5	SET domain containing 5	gene	DOID:9007661	Dwarfism		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature | ClinVar Annotator: match by term: Short stature	PMID:24680889|PMID:25741868|PMID:27375234|PMID:28492532|PMID:28881385
8831905	Setd5	SET domain containing 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24680889|PMID:25741868|PMID:28191889|PMID:28492532|PMID:31337854|PMID:33004838|PMID:35982159
8831905	Setd5	SET domain containing 5	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	
8831905	Setd5	SET domain containing 5	gene	DOID:9008350	NATURAL KILLER CELL ENTEROPATHY		ISO	RGD:1605381	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: NK-cell enteropathy	
8831905	Setd5	SET domain containing 5	gene	DOID:9008682	Velopharyngeal Insufficiency		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Velopharyngeal insufficiency	PMID:25741868|PMID:38177409
8831905	Setd5	SET domain containing 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8831905	Setd5	SET domain containing 5	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastrointestinal hemorrhage	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:28492532
8831905	Setd5	SET domain containing 5	gene	DOID:9834	hyperopia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
8831905	Setd5	SET domain containing 5	gene	DOID:9840	esotropia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
8831905	Setd5	SET domain containing 5	gene	DOID:9970	obesity		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:0060352	Kleefstra syndrome 1		ISO	RGD:1354079	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Kleefstra syndrome 1	
8831957	Lama5	laminin subunit alpha 5	gene	DOID:0060992	bent bone dysplasia syndrome 1		ISO	RGD:1354079	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: distinct bent bone dysplasia	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:0060993	bent bone dysplasia syndrome 2		ISO	RGD:1354079	D	RGD:7240710	20221102	OMIM			
8831957	Lama5	laminin subunit alpha 5	gene	DOID:0060993	bent bone dysplasia syndrome 2		ISO	RGD:1354079	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bent bone dysplasia syndrome 2 | ClinVar Annotator: match by term: LAMA5-related condition	PMID:18594871|PMID:24130771|PMID:25741868|PMID:28492532|PMID:28735299|PMID:29534211|PMID:29669943|PMID:29706646|PMID:29764427|PMID:33242826|PMID:35419533
8831957	Lama5	laminin subunit alpha 5	gene	DOID:0061193	nephrotic syndrome type 26		ISO	RGD:1354079	D	RGD:7240710	20221012	OMIM			
8831957	Lama5	laminin subunit alpha 5	gene	DOID:0061193	nephrotic syndrome type 26		ISO	RGD:1354079	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 26	PMID:25741868|PMID:29534211|PMID:32439764
8831957	Lama5	laminin subunit alpha 5	gene	DOID:10283	prostate cancer		ISO	RGD:1354079	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8831957	Lama5	laminin subunit alpha 5	gene	DOID:10283	prostate cancer		ISO	RGD:1354079	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8831957	Lama5	laminin subunit alpha 5	gene	DOID:10534	stomach cancer		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:1074	kidney failure		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	
8831957	Lama5	laminin subunit alpha 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8831957	Lama5	laminin subunit alpha 5	gene	DOID:1115	sarcoma		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:11836	clubfoot		ISO	RGD:1354079	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:25741868|PMID:28492532|PMID:29534211
8831957	Lama5	laminin subunit alpha 5	gene	DOID:1324	lung cancer		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:1324	lung cancer		ISO	RGD:1354079	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:18594871|PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1354079	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
8831957	Lama5	laminin subunit alpha 5	gene	DOID:1459	hypothyroidism		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	
8831957	Lama5	laminin subunit alpha 5	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1354079	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:2377	multiple sclerosis		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple sclerosis	
8831957	Lama5	laminin subunit alpha 5	gene	DOID:2975	cystic kidney disease		ISO	RGD:1551147	D	RGD:9068941	20220825	MouseDO			
8831957	Lama5	laminin subunit alpha 5	gene	DOID:3275	thymoma		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:1354079	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes	PMID:28492532|PMID:28544784
8831957	Lama5	laminin subunit alpha 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8831957	Lama5	laminin subunit alpha 5	gene	DOID:423	myopathy		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868
8831957	Lama5	laminin subunit alpha 5	gene	DOID:4362	cervical cancer		ISO	RGD:1354079	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:18594871|PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:4621	holoprosencephaly		ISO	RGD:1354079	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly sequence	PMID:25741868|PMID:28492532|PMID:28735299|PMID:29534211
8831957	Lama5	laminin subunit alpha 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1354079	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8831957	Lama5	laminin subunit alpha 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:6039	uveal melanoma		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:630	genetic disease		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24130771|PMID:25741868|PMID:28492532|PMID:28735299|PMID:30143558|PMID:36413997
8831957	Lama5	laminin subunit alpha 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:9000363	Hematuria		ISO	RGD:1354079	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hematuria | ClinVar Annotator: match by term: Macroscopic hematuria	PMID:25741868
8831957	Lama5	laminin subunit alpha 5	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1354079	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8831957	Lama5	laminin subunit alpha 5	gene	DOID:9002189	High Myopia		ISO	RGD:1354079	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:9003426	Glycosuria		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glycosuria	
8831957	Lama5	laminin subunit alpha 5	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354079	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:18594871|PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:9007661	Dwarfism		ISO	RGD:1354079	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:9008582	Developmental Disease		ISO	RGD:1354079	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8831957	Lama5	laminin subunit alpha 5	gene	DOID:9008675	Dyskinesias		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:25741868
8831957	Lama5	laminin subunit alpha 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:9009266	LAMA5-RELATED MULTISYSTEMIC SYNDROME		ISO	RGD:1354079	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: LAMA5-related multisystemic syndrome	PMID:24130771|PMID:25741868|PMID:29377152|PMID:29534211
8831957	Lama5	laminin subunit alpha 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8831957	Lama5	laminin subunit alpha 5	gene	DOID:9884	muscular dystrophy		ISO	RGD:1354079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868
8832040	Krt36	keratin 36	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832040	Krt36	keratin 36	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8832052	Gal3st2	galactose-3-O-sulfotransferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8832052	Gal3st2	galactose-3-O-sulfotransferase 2	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1346582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: early-onset inflammatory bowel disease	PMID:25147203
8832052	Gal3st2	galactose-3-O-sulfotransferase 2	gene	DOID:3275	thymoma		ISO	RGD:1346582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8832072	Scand1	SCAN domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832082	Wnt2b	Wnt family member 2B	gene	DOID:0051061	stroke		ISO	RGD:733303	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29531354
8832082	Wnt2b	Wnt family member 2B	gene	DOID:1115	sarcoma		ISO	RGD:733303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8832082	Wnt2b	Wnt family member 2B	gene	DOID:1911	endodermal sinus tumor		ISO	RGD:733303	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor	PMID:16822086|REF_RGD_ID:2298800
8832082	Wnt2b	Wnt family member 2B	gene	DOID:3307	teratoma		ISO	RGD:733303	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor	PMID:16822086|REF_RGD_ID:2298800
8832082	Wnt2b	Wnt family member 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:733303	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8832082	Wnt2b	Wnt family member 2B	gene	DOID:9000351	Diarrhea 9		ISO	RGD:733303	D	RGD:7240710	20190315	OMIM			
8832082	Wnt2b	Wnt family member 2B	gene	DOID:9000351	Diarrhea 9		ISO	RGD:733303	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIARRHEA 9 | ClinVar Annotator: match by term: Diarrhea 9 | ClinVar Annotator: match by term: WNT2B-related condition | ClinVar Annotator: match by term: diarrhea 9	PMID:25741868|PMID:28492532
8832094	Pdcd5	programmed cell death 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8832094	Pdcd5	programmed cell death 5	gene	DOID:10534	stomach cancer		ISO	RGD:1321536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8832094	Pdcd5	programmed cell death 5	gene	DOID:1115	sarcoma		ISO	RGD:1321536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8832094	Pdcd5	programmed cell death 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8832094	Pdcd5	programmed cell death 5	gene	DOID:3070	high grade glioma		ISO	RGD:1321536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8832094	Pdcd5	programmed cell death 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1321536	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8832094	Pdcd5	programmed cell death 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832094	Pdcd5	programmed cell death 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8832104	Bclaf3	BCLAF1 and THRAP3 family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8832104	Bclaf3	BCLAF1 and THRAP3 family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1348660	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8832104	Bclaf3	BCLAF1 and THRAP3 family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1348660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8832104	Bclaf3	BCLAF1 and THRAP3 family member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8832104	Bclaf3	BCLAF1 and THRAP3 family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832104	Bclaf3	BCLAF1 and THRAP3 family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8832104	Bclaf3	BCLAF1 and THRAP3 family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8832133	Tfap2c	transcription factor AP-2 gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832133	Tfap2c	transcription factor AP-2 gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1346626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8832133	Tfap2c	transcription factor AP-2 gamma	gene	DOID:10907	microcephaly		ISO	RGD:1346626	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8832133	Tfap2c	transcription factor AP-2 gamma	gene	DOID:1115	sarcoma		ISO	RGD:1346626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8832133	Tfap2c	transcription factor AP-2 gamma	gene	DOID:1324	lung cancer		ISO	RGD:1346626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8832133	Tfap2c	transcription factor AP-2 gamma	gene	DOID:4362	cervical cancer		ISO	RGD:1346626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8832133	Tfap2c	transcription factor AP-2 gamma	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8832133	Tfap2c	transcription factor AP-2 gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832133	Tfap2c	transcription factor AP-2 gamma	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1346626	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
8832133	Tfap2c	transcription factor AP-2 gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8832133	Tfap2c	transcription factor AP-2 gamma	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8832144	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:24033266|PMID:25741868|PMID:27647349|PMID:28112205|PMID:28492532|PMID:33046446
8832144	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832144	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:0060180	colitis		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colitis	PMID:25741868
8832144	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis	
8832144	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:0111962	combined immunodeficiency		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency	PMID:25741868
8832144	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:0111984	immunodeficiency 58		ISO	RGD:1605284	D	RGD:7240710	20190315	OMIM			
8832144	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:0111984	immunodeficiency 58		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CARMIL2-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 58 | ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency	PMID:16199547|PMID:24033266|PMID:25741868|PMID:27647349|PMID:27896283|PMID:28112205|PMID:28492532|PMID:29479355|PMID:35753512
8832144	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:1324	lung cancer		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8832144	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:1909	melanoma		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8832144	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8832144	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832144	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8832144	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:630	genetic disease		ISO	RGD:1605284	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8832144	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:24033266|PMID:25741868|PMID:28492532
8832144	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8832144	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8832194	Gpkow	G-patch domain and KOW motifs	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8832194	Gpkow	G-patch domain and KOW motifs	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832194	Gpkow	G-patch domain and KOW motifs	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832194	Gpkow	G-patch domain and KOW motifs	gene	DOID:9000284	X-linked Microhydranencephaly		ISO	RGD:1343451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly-hypokinesia-congenital contractures syndrome	PMID:25741868
8832194	Gpkow	G-patch domain and KOW motifs	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1343451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8832194	Gpkow	G-patch domain and KOW motifs	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8832194	Gpkow	G-patch domain and KOW motifs	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8832214	Hibadh	3-hydroxyisobutyrate dehydrogenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832214	Hibadh	3-hydroxyisobutyrate dehydrogenase	gene	DOID:10534	stomach cancer		ISO	RGD:732658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8832214	Hibadh	3-hydroxyisobutyrate dehydrogenase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8832214	Hibadh	3-hydroxyisobutyrate dehydrogenase	gene	DOID:4362	cervical cancer		ISO	RGD:732658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8832214	Hibadh	3-hydroxyisobutyrate dehydrogenase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8832214	Hibadh	3-hydroxyisobutyrate dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832214	Hibadh	3-hydroxyisobutyrate dehydrogenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8832214	Hibadh	3-hydroxyisobutyrate dehydrogenase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8832226	Tinagl1	tubulointerstitial nephritis antigen like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832226	Tinagl1	tubulointerstitial nephritis antigen like 1	gene	DOID:1324	lung cancer		ISO	RGD:1352792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8832226	Tinagl1	tubulointerstitial nephritis antigen like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832226	Tinagl1	tubulointerstitial nephritis antigen like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8832226	Tinagl1	tubulointerstitial nephritis antigen like 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1352792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8832245	Cep57	centrosomal protein 57	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8832245	Cep57	centrosomal protein 57	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832245	Cep57	centrosomal protein 57	gene	DOID:0080142	mosaic variegated aneuploidy syndrome 2		ISO	RGD:1602500	D	RGD:7240710	20180130	OMIM			
8832245	Cep57	centrosomal protein 57	gene	DOID:0080142	mosaic variegated aneuploidy syndrome 2		ISO	RGD:1602500	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: CEP57-related condition | ClinVar Annotator: match by term: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 | ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2 | ClinVar Annotator: match by term: mosaic variegated aneuploidy syndrome 2	PMID:16199547|PMID:17576681|PMID:21552266|PMID:24259107|PMID:25741868|PMID:28492532|PMID:30010053|PMID:31943948|PMID:32861809|PMID:9536098
8832245	Cep57	centrosomal protein 57	gene	DOID:0080688	mosaic variegated aneuploidy syndrome		ISO	RGD:1602500	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome	
8832245	Cep57	centrosomal protein 57	gene	DOID:10534	stomach cancer		ISO	RGD:1602500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8832245	Cep57	centrosomal protein 57	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8832245	Cep57	centrosomal protein 57	gene	DOID:1324	lung cancer		ISO	RGD:1602500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8832245	Cep57	centrosomal protein 57	gene	DOID:5041	esophageal cancer		ISO	RGD:1602500	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8832245	Cep57	centrosomal protein 57	gene	DOID:630	genetic disease		ISO	RGD:1602500	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8832245	Cep57	centrosomal protein 57	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8832245	Cep57	centrosomal protein 57	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8832245	Cep57	centrosomal protein 57	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8832261	Phkb	phosphorylase kinase regulatory subunit beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8832261	Phkb	phosphorylase kinase regulatory subunit beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832261	Phkb	phosphorylase kinase regulatory subunit beta	gene	DOID:0111041	glycogen storage disease IXB		ISO	RGD:1343205	D	RGD:7240710	20180130	OMIM			
8832261	Phkb	phosphorylase kinase regulatory subunit beta	gene	DOID:0111041	glycogen storage disease IXB		ISO	RGD:1343205	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE IXb | ClinVar Annotator: match by term: Glycogen storage disease IXb | ClinVar Annotator: match by term: PHKB-related condition | ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE	PMID:16199547|PMID:17576681|PMID:17689125|PMID:18950708|PMID:21646031|PMID:25070466|PMID:25266922|PMID:25640679|PMID:25741868|PMID:26526422|PMID:26913919|PMID:28492532|PMID:28870985|PMID:30919572|PMID:31508908|PMID:32505569|PMID:33782433|PMID:33858366|PMID:34093448|PMID:34136918|PMID:34440436|PMID:34732400|PMID:34989216|PMID:35038814|PMID:37351782|PMID:37510298|PMID:38374194|PMID:9215682|PMID:9326319|PMID:9402963|PMID:9536098
8832261	Phkb	phosphorylase kinase regulatory subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8832261	Phkb	phosphorylase kinase regulatory subunit beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8832261	Phkb	phosphorylase kinase regulatory subunit beta	gene	DOID:1324	lung cancer		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8832261	Phkb	phosphorylase kinase regulatory subunit beta	gene	DOID:1909	melanoma		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8832261	Phkb	phosphorylase kinase regulatory subunit beta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8832261	Phkb	phosphorylase kinase regulatory subunit beta	gene	DOID:2747	glycogen storage disease		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glycogen storage disease	PMID:25741868
8832261	Phkb	phosphorylase kinase regulatory subunit beta	gene	DOID:3275	thymoma		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8832261	Phkb	phosphorylase kinase regulatory subunit beta	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8832261	Phkb	phosphorylase kinase regulatory subunit beta	gene	DOID:4362	cervical cancer		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8832261	Phkb	phosphorylase kinase regulatory subunit beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1343205	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8832261	Phkb	phosphorylase kinase regulatory subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832261	Phkb	phosphorylase kinase regulatory subunit beta	gene	DOID:630	genetic disease		ISO	RGD:1343205	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:38374194
8832261	Phkb	phosphorylase kinase regulatory subunit beta	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	
8832261	Phkb	phosphorylase kinase regulatory subunit beta	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8832261	Phkb	phosphorylase kinase regulatory subunit beta	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868|PMID:28492532|PMID:9215682|PMID:9326319
8832261	Phkb	phosphorylase kinase regulatory subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8832261	Phkb	phosphorylase kinase regulatory subunit beta	gene	DOID:9007661	Dwarfism		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16199547|PMID:25741868|PMID:28492532|PMID:31508908|PMID:9215682|PMID:9326319
8832261	Phkb	phosphorylase kinase regulatory subunit beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8832297	Ifi30	IFI30 lysosomal thiol reductase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1321848	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:35654975
8832297	Ifi30	IFI30 lysosomal thiol reductase	gene	DOID:1115	sarcoma		ISO	RGD:1321848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8832297	Ifi30	IFI30 lysosomal thiol reductase	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1321848	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17597826
8832297	Ifi30	IFI30 lysosomal thiol reductase	gene	DOID:4362	cervical cancer		ISO	RGD:1321848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8832297	Ifi30	IFI30 lysosomal thiol reductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832297	Ifi30	IFI30 lysosomal thiol reductase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8832297	Ifi30	IFI30 lysosomal thiol reductase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:0080124	mitochondrial DNA depletion syndrome 5		ISO	RGD:1319721	D	RGD:7240710	20180130	OMIM			
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:0080124	mitochondrial DNA depletion syndrome 5		ISO	RGD:1319721	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | ClinVar Annotator: match by term: SUCLA2-related condition	PMID:15877282|PMID:17301081|PMID:20843780|PMID:24033266|PMID:24659738|PMID:25741868|PMID:26467025|PMID:26475597|PMID:27651038|PMID:27913098|PMID:28492532|PMID:33231368
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:10907	microcephaly		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:32404165|PMID:38759022
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:1115	sarcoma		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spinal muscular atrophy	PMID:25741868
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:1324	lung cancer		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:1909	melanoma		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:4362	cervical cancer		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:552	pneumonia		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:25741868
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:630	genetic disease		ISO	RGD:1319721	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:26475597|PMID:27651038|PMID:28492532|PMID:33231368
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:7998	hyperthyroidism		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:28492532
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:9003507	Premature Birth		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:15877282|PMID:16199547|PMID:17301081|PMID:28492532
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:9008023	Memory Disorders		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:32404165|PMID:38759022
8832322	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:9970	obesity		ISO	RGD:1319721	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
8832337	Kcnh4	potassium voltage-gated channel subfamily H member 4	gene	DOID:10534	stomach cancer		ISO	RGD:733889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8832337	Kcnh4	potassium voltage-gated channel subfamily H member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832337	Kcnh4	potassium voltage-gated channel subfamily H member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8832384	Tmem215	transmembrane protein 215	gene	DOID:10534	stomach cancer		ISO	RGD:1601903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8832391	Cfp	complement factor properdin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8832391	Cfp	complement factor properdin	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1351689	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:34142820
8832391	Cfp	complement factor properdin	gene	DOID:0080176	meningococcal meningitis		ISO	RGD:1351689	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10909851|PMID:8530058
8832391	Cfp	complement factor properdin	gene	DOID:0111768	X-linked properdin deficiency		ISO	RGD:1351689	D	RGD:7240710	20190315	OMIM			
8832391	Cfp	complement factor properdin	gene	DOID:0111768	X-linked properdin deficiency		ISO	RGD:1351689	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CFP-related condition | ClinVar Annotator: match by term: PROPERDIN DEFICIENCY, TYPE I | ClinVar Annotator: match by term: PROPERDIN DEFICIENCY, TYPE II | ClinVar Annotator: match by term: PROPERDIN DEFICIENCY, TYPE III | ClinVar Annotator: match by term: Properdin deficiency, X-linked | ClinVar Annotator: match by term: properdin deficiency, X-linked	PMID:10698340|PMID:10909851|PMID:19328743|PMID:22229731|PMID:25741868|PMID:28492532|PMID:28750028|PMID:36367635|PMID:37744338|PMID:8530058|PMID:9476131
8832391	Cfp	complement factor properdin	gene	DOID:12134	factor VIII deficiency		ISO	RGD:1351689	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:6912882|REF_RGD_ID:11041156
8832391	Cfp	complement factor properdin	gene	DOID:5041	esophageal cancer		ISO	RGD:1351689	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8832391	Cfp	complement factor properdin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832391	Cfp	complement factor properdin	gene	DOID:630	genetic disease		ISO	RGD:1351689	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8832391	Cfp	complement factor properdin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351689	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8832391	Cfp	complement factor properdin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1351689	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8832391	Cfp	complement factor properdin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8832403	Cdk11b	cyclin dependent kinase 11B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832403	Cdk11b	cyclin dependent kinase 11B	gene	DOID:10534	stomach cancer		ISO	RGD:1604656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8832403	Cdk11b	cyclin dependent kinase 11B	gene	DOID:1115	sarcoma		ISO	RGD:1604656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8832403	Cdk11b	cyclin dependent kinase 11B	gene	DOID:1324	lung cancer		ISO	RGD:1604656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8832403	Cdk11b	cyclin dependent kinase 11B	gene	DOID:1826	epilepsy		ISO	RGD:1604656	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8832403	Cdk11b	cyclin dependent kinase 11B	gene	DOID:1909	melanoma		ISO	RGD:1604656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8832403	Cdk11b	cyclin dependent kinase 11B	gene	DOID:4362	cervical cancer		ISO	RGD:1604656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8832403	Cdk11b	cyclin dependent kinase 11B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604656	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8832403	Cdk11b	cyclin dependent kinase 11B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832403	Cdk11b	cyclin dependent kinase 11B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604656	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8832403	Cdk11b	cyclin dependent kinase 11B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8832403	Cdk11b	cyclin dependent kinase 11B	gene	DOID:9005572	Brachymorphism-Onychodysplasia-Dysphalangism Syndrome		ISO	RGD:1604656	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Brachymorphism-onychodysplasia-dysphalangism syndrome	PMID:25741868
8832403	Cdk11b	cyclin dependent kinase 11B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8832452	Il23r	interleukin 23 receptor	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
8832452	Il23r	interleukin 23 receptor	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1351657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21983784|PMID:23291587|PMID:26192919
8832452	Il23r	interleukin 23 receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832452	Il23r	interleukin 23 receptor	gene	DOID:0081120	Graves ophthalmopathy	no_association	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs10889677,rs2201841(human)	PMID:22663548|REF_RGD_ID:7421521
8832452	Il23r	interleukin 23 receptor	gene	DOID:0081120	Graves ophthalmopathy	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs2201841,rs10889677(human)	PMID:18073300|REF_RGD_ID:8549554
8832452	Il23r	interleukin 23 receptor	gene	DOID:0110883	inflammatory bowel disease 17		ISO	RGD:1351657	D	RGD:7240710	20180130	OMIM			
8832452	Il23r	interleukin 23 receptor	gene	DOID:0111279	psoriasis 7		ISO	RGD:1351657	D	RGD:7240710	20230505	OMIM			
8832452	Il23r	interleukin 23 receptor	gene	DOID:0111279	psoriasis 7		ISO	RGD:1351657	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: IL23R-related condition	PMID:25741868|PMID:28492532
8832452	Il23r	interleukin 23 receptor	gene	DOID:1024	leprosy		ISO	RGD:1351657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22019778
8832452	Il23r	interleukin 23 receptor	gene	DOID:1059	intellectual disability		ISO	RGD:1351657	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868
8832452	Il23r	interleukin 23 receptor	gene	DOID:10608	celiac disease		ISO	RGD:1351657	D	RGD:9068941	20200609	RGD			PMID:19175939|REF_RGD_ID:8549604
8832452	Il23r	interleukin 23 receptor	gene	DOID:10608	celiac disease	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:p.R381Q(rs11209026)(human)	PMID:18368064|REF_RGD_ID:8549631
8832452	Il23r	interleukin 23 receptor	gene	DOID:11335	sarcoidosis	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNPs:introns,exon:rs7517847,rs11465804,rs11209026(human)	PMID:21846945|REF_RGD_ID:8549545
8832452	Il23r	interleukin 23 receptor	gene	DOID:12361	Graves' disease	no_association	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs2201841,rs10889677,rs7530511(human)	PMID:19021011|REF_RGD_ID:8549564
8832452	Il23r	interleukin 23 receptor	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs7530511(human)	PMID:18073300|REF_RGD_ID:8549554
8832452	Il23r	interleukin 23 receptor	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		protein:increased expression:minor salivary gland:	PMID:22262980|REF_RGD_ID:8549566
8832452	Il23r	interleukin 23 receptor	gene	DOID:13141	uveitis	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		associated with Sarcoidosis;DNA:SNPs:intron,exon:rs11465804,rs11209026(human)	PMID:21846945|REF_RGD_ID:8549545
8832452	Il23r	interleukin 23 receptor	gene	DOID:1324	lung cancer		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
8832452	Il23r	interleukin 23 receptor	gene	DOID:13241	Behcet's disease	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1884444(human)	PMID:22483685|REF_RGD_ID:8549550
8832452	Il23r	interleukin 23 receptor	gene	DOID:13241	Behcet's disease	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype::rs17375018, rs11209032(human);	PMID:20375120|REF_RGD_ID:8549565
8832452	Il23r	interleukin 23 receptor	gene	DOID:1826	epilepsy		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
8832452	Il23r	interleukin 23 receptor	gene	DOID:2030	anxiety disorder		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8832452	Il23r	interleukin 23 receptor	gene	DOID:2377	multiple sclerosis		ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNPs:cds:p.R381Q(rs11209026),(rs7517847)(human)	PMID:18368064|REF_RGD_ID:8549631
8832452	Il23r	interleukin 23 receptor	gene	DOID:2377	multiple sclerosis	no_association	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs2201841,rs10889677,s7517847(human)	PMID:24547735|REF_RGD_ID:8549632
8832452	Il23r	interleukin 23 receptor	gene	DOID:2841	asthma		ISO	RGD:1622129	D	RGD:9068941	20200609	RGD			PMID:19935773|REF_RGD_ID:5037240
8832452	Il23r	interleukin 23 receptor	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1351657	D	RGD:9068941	20260212	RGD		DNA:SNPs, haplotype: :rs11805303, rs7518660	PMID:36483566|REF_RGD_ID:632518378
8832452	Il23r	interleukin 23 receptor	gene	DOID:3275	thymoma		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8832452	Il23r	interleukin 23 receptor	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8832452	Il23r	interleukin 23 receptor	gene	DOID:418	systemic scleroderma		ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs11209026, rs11465804 (human)	PMID:19918037|REF_RGD_ID:5096624
8832452	Il23r	interleukin 23 receptor	gene	DOID:418	systemic scleroderma	no_association	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs11209032,rs1495965(human)	PMID:18713787|REF_RGD_ID:8549603
8832452	Il23r	interleukin 23 receptor	gene	DOID:4483	rhinitis	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNP,haplotype: :rs7517847(human)	PMID:23696856|REF_RGD_ID:8549605
8832452	Il23r	interleukin 23 receptor	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human)	PMID:19918037|REF_RGD_ID:5096624
8832452	Il23r	interleukin 23 receptor	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:1351657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17952073|PMID:20062062
8832452	Il23r	interleukin 23 receptor	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype:multiple:	PMID:19522770|REF_RGD_ID:8549549
8832452	Il23r	interleukin 23 receptor	gene	DOID:7147	ankylosing spondylitis	no_association	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs11209026(human)	PMID:19877036|REF_RGD_ID:8549630
8832452	Il23r	interleukin 23 receptor	gene	DOID:7148	rheumatoid arthritis	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNP::rs1343151(human)	PMID:18647855|REF_RGD_ID:8549596
8832452	Il23r	interleukin 23 receptor	gene	DOID:848	arthritis	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		associated with Psoriasis;DNA:haplotype::rs7530511, rs11209026(human)	PMID:19035472|REF_RGD_ID:8549572
8832452	Il23r	interleukin 23 receptor	gene	DOID:8577	ulcerative colitis		ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNP,Haplotype: :rs1884444(human)	PMID:23093364|REF_RGD_ID:8549574
8832452	Il23r	interleukin 23 receptor	gene	DOID:8577	ulcerative colitis		ISO	RGD:1351657	D	RGD:9068941	20250508	CTD		CTD Direct Evidence: marker/mechanism	PMID:17068223|PMID:18438406|PMID:19122664|PMID:20228799
8832452	Il23r	interleukin 23 receptor	gene	DOID:8778	Crohn's disease		ISO	RGD:1351657	D	RGD:9068941	20250508	CTD		CTD Direct Evidence: marker/mechanism	PMID:17068223|PMID:17435756|PMID:18438406
8832452	Il23r	interleukin 23 receptor	gene	DOID:8778	Crohn's disease	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNPs:multiple:	PMID:17068223|REF_RGD_ID:8549568
8832452	Il23r	interleukin 23 receptor	gene	DOID:8893	psoriasis		ISO	RGD:1351657	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:19169254|PMID:20953190|PMID:24212883
8832452	Il23r	interleukin 23 receptor	gene	DOID:8893	psoriasis		ISO	RGD:1351657	D	RGD:9068941	20260521	RGD		DNA:SNPs: :rs1884444,rs10889677(human);	PMID:23093364|REF_RGD_ID:8549574
8832452	Il23r	interleukin 23 receptor	gene	DOID:8893	psoriasis	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs11805303(human)	PMID:20978829|REF_RGD_ID:8549602
8832452	Il23r	interleukin 23 receptor	gene	DOID:8893	psoriasis	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:p.R381Q(human)	PMID:17587057|REF_RGD_ID:8549569
8832452	Il23r	interleukin 23 receptor	gene	DOID:9003049	Femur Head Necrosis	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20231207	RGD		associated with Alcohol-Related Disorders;DNA:SNP:rs6693831 (human)	PMID:28422712|REF_RGD_ID:401901196
8832452	Il23r	interleukin 23 receptor	gene	DOID:9008023	Memory Disorders		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
8832452	Il23r	interleukin 23 receptor	gene	DOID:9008286	Experimental Autoimmune Myasthenia Gravis		ISO	RGD:1586368	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lymph node	PMID:21193288|REF_RGD_ID:5108250
8832452	Il23r	interleukin 23 receptor	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		protein:increased expression:T cell:	PMID:21110900|REF_RGD_ID:8549601
8832452	Il23r	interleukin 23 receptor	gene	DOID:9834	hyperopia		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
8832472	Xcl1	X-C motif chemokine ligand 1	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:733993	D	RGD:9068941	20200619	RGD		mRNA:increased expression:lung (mouse)	PMID:15356152|REF_RGD_ID:30309221
8832472	Xcl1	X-C motif chemokine ligand 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8832472	Xcl1	X-C motif chemokine ligand 1	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:620452	D	RGD:9068941	20200609	RGD		mRNA:increased expression:glomerulus	PMID:9717977|REF_RGD_ID:8693304
8832472	Xcl1	X-C motif chemokine ligand 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832472	Xcl1	X-C motif chemokine ligand 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8832499	Ier3	immediate early response 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832499	Ier3	immediate early response 3	gene	DOID:0080600	COVID-19		ISO	RGD:1347080	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
8832499	Ier3	immediate early response 3	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:1347080	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:14534530|REF_RGD_ID:1331843
8832499	Ier3	immediate early response 3	gene	DOID:10763	hypertension		ISO	RGD:1347080	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20713914
8832499	Ier3	immediate early response 3	gene	DOID:2772	irritant dermatitis		ISO	RGD:1347080	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27258892
8832499	Ier3	immediate early response 3	gene	DOID:37	skin disease		ISO	RGD:1347080	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8832499	Ier3	immediate early response 3	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1347080	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
8832511	Lck	LCK proto-oncogene, Src family tyrosine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8832511	Lck	LCK proto-oncogene, Src family tyrosine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832511	Lck	LCK proto-oncogene, Src family tyrosine kinase	gene	DOID:0060058	lymphoma		ISO	RGD:1344945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8832511	Lck	LCK proto-oncogene, Src family tyrosine kinase	gene	DOID:0111937	immunodeficiency 22		ISO	RGD:1344945	D	RGD:7240710	20180130	OMIM			
8832511	Lck	LCK proto-oncogene, Src family tyrosine kinase	gene	DOID:0111937	immunodeficiency 22		ISO	RGD:1344945	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 22 | ClinVar Annotator: match by term: Immunodeficiency 22 | ClinVar Annotator: match by term: Severe combined immunodeficiency due to LCK deficiency	PMID:11904433|PMID:16199547|PMID:17576681|PMID:22985903|PMID:25741868|PMID:27087313|PMID:28096507|PMID:28492532|PMID:36910149|PMID:9325251|PMID:9536098
8832511	Lck	LCK proto-oncogene, Src family tyrosine kinase	gene	DOID:11204	allergic conjunctivitis		ISO	RGD:2994	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:T cell	PMID:14507881|REF_RGD_ID:1600225
8832511	Lck	LCK proto-oncogene, Src family tyrosine kinase	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:10861	D	RGD:9068941	20200609	RGD			PMID:17711737|REF_RGD_ID:2316557
8832511	Lck	LCK proto-oncogene, Src family tyrosine kinase	gene	DOID:1324	lung cancer		ISO	RGD:1344945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8832511	Lck	LCK proto-oncogene, Src family tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:1344945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8832511	Lck	LCK proto-oncogene, Src family tyrosine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1344945	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8832511	Lck	LCK proto-oncogene, Src family tyrosine kinase	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:2994	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:T cell	PMID:16828835|REF_RGD_ID:1600221
8832511	Lck	LCK proto-oncogene, Src family tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832511	Lck	LCK proto-oncogene, Src family tyrosine kinase	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1344945	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:27748010
8832511	Lck	LCK proto-oncogene, Src family tyrosine kinase	gene	DOID:8466	retinal degeneration		ISO	RGD:2994	D	RGD:9068941	20230525	RGD		associated with hyperaldosterone; mRNA:decreased expression:retina (rat)	PMID:29713904|REF_RGD_ID:152025547
8832511	Lck	LCK proto-oncogene, Src family tyrosine kinase	gene	DOID:9004745	RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES		ISO	RGD:2994	D	RGD:9068941	20230525	RGD		associated with hyperaldosterone; mRNA:decreased expression:retina (rat)	PMID:29713904|REF_RGD_ID:152025547
8832511	Lck	LCK proto-oncogene, Src family tyrosine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:0060074	ductal carcinoma in situ	severity	ISO	RGD:1352729	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:11070118|REF_RGD_ID:2315133
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1352729	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DNA TOPOISOMERASE II, RESISTANCE TO INHIBITION OF, BY AMSACRINE	
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1352729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:0080600	COVID-19		ISO	RGD:1352729	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:10283	prostate cancer		ISO	RGD:1352729	D	RGD:9068941	20200609	RGD			PMID:18347174|REF_RGD_ID:2315130
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1352729	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1352729	D	RGD:9068941	20200609	RGD			PMID:19913893|REF_RGD_ID:2315121
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:1115	sarcoma		ISO	RGD:1352729	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1352729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:11624	penile benign neoplasm	severity	ISO	RGD:1352729	D	RGD:9068941	20200609	RGD			PMID:18489530|REF_RGD_ID:2315128
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:1240	leukemia		ISO	RGD:1352729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15833037
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:1324	lung cancer		ISO	RGD:1352729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:1577	limited scleroderma		ISO	RGD:1352729	D	RGD:9068941	20260205	RGD			PMID:16180014|REF_RGD_ID:632518343
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:1580	diffuse scleroderma		ISO	RGD:1352729	D	RGD:9068941	20260205	RGD			PMID:16180014|REF_RGD_ID:632518343
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:1909	melanoma		ISO	RGD:1352729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:2154	nephroblastoma		ISO	RGD:1352729	D	RGD:9068941	20200609	RGD			PMID:16556665|REF_RGD_ID:2315131
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:2154	nephroblastoma		ISO	RGD:1352729	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:12438255|REF_RGD_ID:2315132
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:2843	long QT syndrome		ISO	RGD:1352729	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:3070	high grade glioma		ISO	RGD:1352729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:3770	pulmonary fibrosis	susceptibility	ISO	RGD:1352729	D	RGD:9068941	20260205	RGD		associated with systemic scleroderma;	PMID:16180014|REF_RGD_ID:632518343
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1352729	D	RGD:9068941	20260205	RGD			PMID:26617887|REF_RGD_ID:11573801
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1352729	D	RGD:9068941	20260205	RGD			PMID:38806610|REF_RGD_ID:632518342
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1352729	D	RGD:9068941	20260212	RGD			PMID:31797573|REF_RGD_ID:632518369
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1352729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1352729	D	RGD:9068941	20260312	RGD			PMID:32201520|REF_RGD_ID:640476575
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:1352729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23533247
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1352729	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:6432	pulmonary hypertension		ISO	RGD:62048	D	RGD:9068941	20260314	RGD		mRNA:increased expression:pulmonary artery	PMID:32886110|REF_RGD_ID:640476618
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:6432	pulmonary hypertension	disease_progression	ISO	RGD:62048	D	RGD:9068941	20260312	RGD			PMID:38890390|REF_RGD_ID:640476584
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352729	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:1352729	D	RGD:9068941	20200609	RGD			PMID:19051821|REF_RGD_ID:2315126
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:62048	D	RGD:9068941	20260314	RGD		mRNA:increased expression:spinal cord	PMID:40789519|REF_RGD_ID:640476619
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:9000918	Disease Progression		ISO	RGD:1352729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22204715|PMID:30132517
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:9002265	Kidney Neoplasms	disease_progression	ISO	RGD:1352729	D	RGD:9068941	20200609	RGD			PMID:19539329|REF_RGD_ID:2315122
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1352729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17363613
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:1352729	D	RGD:9068941	20200609	RGD			PMID:19270648|REF_RGD_ID:2315125
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:9002801	Recurrence		ISO	RGD:1352729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20079691|PMID:22204715|PMID:30132517
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1352729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1352729	D	RGD:9068941	20200609	RGD			PMID:19347305|REF_RGD_ID:2315124
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:9004484	Sepsis		ISO	RGD:1352729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27978524
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352729	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1352729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1352729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30132517
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1352729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11583189|PMID:12006526|PMID:16234514|PMID:22204715
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:1352729	D	RGD:9068941	20200609	RGD			PMID:19996222|REF_RGD_ID:2315120
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:1352729	D	RGD:9068941	20200609	RGD		DNA:amplification, deletion (human)	PMID:18465341|REF_RGD_ID:2315129
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:1352729	D	RGD:9068941	20200609	RGD		DNA:deletion (human)	PMID:18702822|REF_RGD_ID:2315127
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352729	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:9009409	brain metastasis	susceptibility	ISO	RGD:1352729	D	RGD:9068941	20260205	RGD		associated with lung non-small cell carcinoma;	PMID:26617887|REF_RGD_ID:11573801
8832531	Top2a	DNA topoisomerase II alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8832570	Plpp3	phospholipid phosphatase 3	gene	DOID:0051064	left ventricular failure		ISO	RGD:1604845	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28982073
8832570	Plpp3	phospholipid phosphatase 3	gene	DOID:1324	lung cancer		ISO	RGD:1604845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8832570	Plpp3	phospholipid phosphatase 3	gene	DOID:3393	coronary artery disease		ISO	RGD:1604845	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378990
8832570	Plpp3	phospholipid phosphatase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8832570	Plpp3	phospholipid phosphatase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832570	Plpp3	phospholipid phosphatase 3	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1604845	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28982073
8832570	Plpp3	phospholipid phosphatase 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8832570	Plpp3	phospholipid phosphatase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8832580	Sv2a	synaptic vesicle glycoprotein 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832580	Sv2a	synaptic vesicle glycoprotein 2A	gene	DOID:0051085	developmental and epileptic encephalopathy 113		ISO	RGD:1604842	D	RGD:7240710	20240424	OMIM			
8832580	Sv2a	synaptic vesicle glycoprotein 2A	gene	DOID:0051085	developmental and epileptic encephalopathy 113		ISO	RGD:1604842	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 113	PMID:25741868|PMID:37985816
8832580	Sv2a	synaptic vesicle glycoprotein 2A	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:733212	D	RGD:9068941	20211203	RGD		protein:decreased expression:transversus abdominis muscle, axon terminus (mouse)	PMID:28173138|REF_RGD_ID:11535337
8832580	Sv2a	synaptic vesicle glycoprotein 2A	gene	DOID:1324	lung cancer		ISO	RGD:1604842	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8832580	Sv2a	synaptic vesicle glycoprotein 2A	gene	DOID:1909	melanoma		ISO	RGD:1604842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8832580	Sv2a	synaptic vesicle glycoprotein 2A	gene	DOID:3070	high grade glioma		ISO	RGD:1604842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8832580	Sv2a	synaptic vesicle glycoprotein 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1604842	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8832580	Sv2a	synaptic vesicle glycoprotein 2A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8832580	Sv2a	synaptic vesicle glycoprotein 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832580	Sv2a	synaptic vesicle glycoprotein 2A	gene	DOID:6039	uveal melanoma		ISO	RGD:1604842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8832580	Sv2a	synaptic vesicle glycoprotein 2A	gene	DOID:9007090	Experimental Seizures		ISO	RGD:619715	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:p.L174Q(rat)	PMID:27265781|REF_RGD_ID:12792961
8832580	Sv2a	synaptic vesicle glycoprotein 2A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8832602	Il24	interleukin 24	gene	DOID:10534	stomach cancer		ISO	RGD:1605405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8832602	Il24	interleukin 24	gene	DOID:1793	pancreatic cancer		ISO	RGD:1605405	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15580305
8832602	Il24	interleukin 24	gene	DOID:3388	periodontal disease		ISO	RGD:621484	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lymph node, T cell	PMID:20618701|REF_RGD_ID:5024938
8832602	Il24	interleukin 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832602	Il24	interleukin 24	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1605405	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:14678967|PMID:21671747
8832602	Il24	interleukin 24	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1605405	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8832602	Il24	interleukin 24	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1605405	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12830052|PMID:15713900
8832602	Il24	interleukin 24	gene	DOID:9007417	Pseudomonas Infections		ISO	RGD:1605405	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis	PMID:19399182|REF_RGD_ID:5147421
8832602	Il24	interleukin 24	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1605405	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:16298037|PMID:21671747
8832602	Il24	interleukin 24	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8832611	Tnfrsf17	TNF receptor superfamily member 17	gene	DOID:0080600	COVID-19		ISO	RGD:1312303	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8832611	Tnfrsf17	TNF receptor superfamily member 17	gene	DOID:1520	colon carcinoma		ISO	RGD:1312303	D	RGD:9068941	20200609	RGD			PMID:11104810|REF_RGD_ID:2317311
8832611	Tnfrsf17	TNF receptor superfamily member 17	gene	DOID:9538	multiple myeloma		ISO	RGD:1312303	D	RGD:9068941	20200609	RGD			PMID:15692072|REF_RGD_ID:2317306
8832618	Rabl6	RAB, member RAS oncogene family like 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8832618	Rabl6	RAB, member RAS oncogene family like 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832618	Rabl6	RAB, member RAS oncogene family like 6	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1316912	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
8832618	Rabl6	RAB, member RAS oncogene family like 6	gene	DOID:10534	stomach cancer		ISO	RGD:1316912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8832618	Rabl6	RAB, member RAS oncogene family like 6	gene	DOID:1059	intellectual disability		ISO	RGD:1316912	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
8832618	Rabl6	RAB, member RAS oncogene family like 6	gene	DOID:1324	lung cancer		ISO	RGD:1316912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
8832618	Rabl6	RAB, member RAS oncogene family like 6	gene	DOID:1909	melanoma		ISO	RGD:1316912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8832618	Rabl6	RAB, member RAS oncogene family like 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8832618	Rabl6	RAB, member RAS oncogene family like 6	gene	DOID:3070	high grade glioma		ISO	RGD:1316912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8832618	Rabl6	RAB, member RAS oncogene family like 6	gene	DOID:4362	cervical cancer		ISO	RGD:1316912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8832618	Rabl6	RAB, member RAS oncogene family like 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8832618	Rabl6	RAB, member RAS oncogene family like 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1316912	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8832618	Rabl6	RAB, member RAS oncogene family like 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832618	Rabl6	RAB, member RAS oncogene family like 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8832618	Rabl6	RAB, member RAS oncogene family like 6	gene	DOID:9849	Meniere's disease		ISO	RGD:1316912	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Meniere disease	
8832642	Fcer2	Fc fragment of IgE receptor II	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832642	Fcer2	Fc fragment of IgE receptor II	gene	DOID:10534	stomach cancer		ISO	RGD:1354370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8832642	Fcer2	Fc fragment of IgE receptor II	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	severity	ISO	RGD:1354370	D	RGD:9068941	20200626	RGD			PMID:28302172|REF_RGD_ID:32716376
8832642	Fcer2	Fc fragment of IgE receptor II	gene	DOID:14330	Parkinson's disease		ISO	RGD:1354370	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25475535
8832642	Fcer2	Fc fragment of IgE receptor II	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1354370	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11500085
8832642	Fcer2	Fc fragment of IgE receptor II	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832642	Fcer2	Fc fragment of IgE receptor II	gene	DOID:9002850	Immediate Hypersensitivity		ISO	RGD:1354370	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22967010
8832642	Fcer2	Fc fragment of IgE receptor II	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8832642	Fcer2	Fc fragment of IgE receptor II	gene	DOID:9588	encephalitis		ISO	RGD:1354370	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11500085
8832687	Mvb12a	multivesicular body subunit 12A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8832687	Mvb12a	multivesicular body subunit 12A	gene	DOID:1115	sarcoma		ISO	RGD:1604253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8832687	Mvb12a	multivesicular body subunit 12A	gene	DOID:1909	melanoma		ISO	RGD:1604253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8832687	Mvb12a	multivesicular body subunit 12A	gene	DOID:3070	high grade glioma		ISO	RGD:1604253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8832687	Mvb12a	multivesicular body subunit 12A	gene	DOID:5041	esophageal cancer		ISO	RGD:1604253	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8832687	Mvb12a	multivesicular body subunit 12A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8832687	Mvb12a	multivesicular body subunit 12A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832697	Lhx8	LIM homeobox 8	gene	DOID:1115	sarcoma		ISO	RGD:1606630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8832697	Lhx8	LIM homeobox 8	gene	DOID:1324	lung cancer		ISO	RGD:1606630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8832697	Lhx8	LIM homeobox 8	gene	DOID:9006302	Binge Drinking		ISO	RGD:1308749	D	RGD:9068941	20250201	RGD		mRNA:decreased expression:basal forebrain cholinergic neurons	PMID:37402853|REF_RGD_ID:597538603
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1603717	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:18414213|PMID:25741868|PMID:28492532
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:0060249	scoliosis		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:0070309	absence epilepsy		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:0080016	spina bifida		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Spinal dysraphism	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:0080059	autosomal recessive spinocerebellar ataxia 7		ISO	RGD:1603717	D	RGD:7240710	20180130	OMIM			
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:0080059	autosomal recessive spinocerebellar ataxia 7		ISO	RGD:1603717	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 7 | ClinVar Annotator: match by term: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 | ClinVar Annotator: match by term: TPP1-related condition	PMID:10330339|PMID:10862088|PMID:11017954|PMID:11071145|PMID:11339651|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12796825|PMID:12950156|PMID:15317752|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18473686|PMID:18684116|PMID:19201763|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22245569|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26143525|PMID:26224725|PMID:26467025|PMID:26795593|PMID:27407112|PMID:27553520|PMID:28464005|PMID:28492532|PMID:28554332|PMID:29056246|PMID:29631617|PMID:29687370|PMID:30541466|PMID:30977854|PMID:31059981|PMID:31122803|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32412666|PMID:32580858|PMID:32631363|PMID:33377563|PMID:33845243|PMID:38469103|PMID:9295267|PMID:9536098|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1603717	D	RGD:7240710	20180130	OMIM			
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1603717	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29655203|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1603717	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1603717	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:34849271|PMID:9295267|PMID:9536098|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1603717	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29655203|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:30831263|PMID:31059981|PMID:31069529|PMID:31139143|PMID:31283065|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32005694|PMID:32146219|PMID:32329550|PMID:32580858|PMID:32855042|PMID:33348105|PMID:33377563|PMID:33604240|PMID:34126256|PMID:34849271|PMID:35314707|PMID:9295267|PMID:9536098|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1603717	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29655203|PMID:29687370|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:30831263|PMID:31059981|PMID:31069529|PMID:31122803|PMID:31139143|PMID:31283065|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32005694|PMID:32146219|PMID:32329550|PMID:32412666|PMID:32580858|PMID:32855042|PMID:33348105|PMID:33356800|PMID:33377563|PMID:33604240|PMID:34126256|PMID:34849271|PMID:35314707|PMID:36034292|PMID:36403551|PMID:36539902|PMID:37922835|PMID:9295267|PMID:9536098|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1603717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 2 | ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 2 | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 2 | ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24091540|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26143525|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:26822727|PMID:27146152|PMID:27407112|PMID:27553520|PMID:28165011|PMID:28464005|PMID:28492532|PMID:28554332|PMID:29056246|PMID:29599076|PMID:29631617|PMID:29655203|PMID:29687370|PMID:29933521|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:30831263|PMID:30977854|PMID:31059981|PMID:31069529|PMID:31122803|PMID:31139143|PMID:31216804|PMID:31283065|PMID:31440721|PMID:31487502|PMID:3148961|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32146219|PMID:32329550|PMID:32412666|PMID:32552793|PMID:32631363|PMID:32855042|PMID:33348105|PMID:33356800|PMID:33377563|PMID:33528536|PMID:33604240|PMID:33845243|PMID:34126256|PMID:34849271|PMID:34992632|PMID:35314707|PMID:35772852|PMID:36034292|PMID:36034301|PMID:36305856|PMID:36362641|PMID:36403551|PMID:36435927|PMID:36539902|PMID:36801247|PMID:37922835|PMID:37926545|PMID:38469103|PMID:39821609|PMID:9295267|PMID:9536098|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1603717	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 2 | ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 2 | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 2 | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11054422|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12698559|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15965709|PMID:16199547|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18411270|PMID:18414213|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24091540|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26032578|PMID:26075876|PMID:26143525|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:26822727|PMID:27146152|PMID:27553520|PMID:28165011|PMID:28492532|PMID:28554332|PMID:29056246|PMID:29599076|PMID:29631617|PMID:29655203|PMID:29933521|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:30831263|PMID:30977854|PMID:31059981|PMID:31069529|PMID:31139143|PMID:31216804|PMID:31283065|PMID:31440721|PMID:31487502|PMID:3148961|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32146219|PMID:32329550|PMID:32552793|PMID:32631363|PMID:32855042|PMID:33348105|PMID:33356800|PMID:33377563|PMID:33528536|PMID:33604240|PMID:33845243|PMID:34126256|PMID:34992632|PMID:35314707|PMID:35772852|PMID:36034292|PMID:36034301|PMID:36305856|PMID:36362641|PMID:36403551|PMID:36435927|PMID:36801247|PMID:37926545|PMID:38469103|PMID:39821609|PMID:9295267|PMID:9536098|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:10485	esophageal atresia		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:10629	microphthalmia		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1603717	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10320038
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:10907	microcephaly		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:11044	gastroschisis		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gastroschisis	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1603717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:11830	myopia		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:11836	clubfoot		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:12176	goiter		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:12270	coloboma		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autism	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:12859	choreatic disease		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:10330339|PMID:11339651|PMID:12376936|PMID:15317752|PMID:16199547|PMID:17576681|PMID:17679671|PMID:18684116|PMID:20340139|PMID:21990111|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28165011|PMID:28492532|PMID:28554332|PMID:29056246|PMID:29631617|PMID:30119717|PMID:30771299|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:36801247|PMID:9295267|PMID:9536098|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:1324	lung cancer		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1603717	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:10330339|PMID:10356316|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11071145|PMID:11339651|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:21990111|PMID:22245569|PMID:22612257|PMID:22832778|PMID:23266810|PMID:23418007|PMID:23539563|PMID:24033266|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:28335910|PMID:28464005|PMID:28492532|PMID:29056246|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31216804|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1603717	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11339651|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26143525|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27146152|PMID:27407112|PMID:27553520|PMID:28165011|PMID:28464005|PMID:28492532|PMID:28554332|PMID:29056246|PMID:29631617|PMID:29655203|PMID:29687370|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:30977854|PMID:31059981|PMID:31069529|PMID:31122803|PMID:31139143|PMID:31216804|PMID:31283065|PMID:31440721|PMID:31487502|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32146219|PMID:32329550|PMID:32412666|PMID:32631363|PMID:33348105|PMID:33377563|PMID:33604240|PMID:33845243|PMID:34120799|PMID:34849271|PMID:35314707|PMID:35796208|PMID:36034292|PMID:36034301|PMID:36403551|PMID:9295267|PMID:9536098|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1603717	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:10330339|PMID:10862088|PMID:11339651|PMID:12376936|PMID:15317752|PMID:16199547|PMID:17576681|PMID:17679671|PMID:18684116|PMID:20340139|PMID:21990111|PMID:23266810|PMID:23418007|PMID:23539563|PMID:25525159|PMID:25741868|PMID:26143525|PMID:26224725|PMID:26795593|PMID:28165011|PMID:28492532|PMID:28554332|PMID:29056246|PMID:29631617|PMID:29655203|PMID:30119717|PMID:30771299|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31440721|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33377563|PMID:33845243|PMID:36801247|PMID:38469103|PMID:9295267|PMID:9536098|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:1596	depressive disorder		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Depression	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:1826	epilepsy		ISO	RGD:1603717	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:10330339|PMID:18414213|PMID:19038966|PMID:21990111|PMID:22752289|PMID:22832778|PMID:23266810|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25741868|PMID:26467025|PMID:27553520|PMID:27776828|PMID:28492532|PMID:28717666|PMID:31283065|PMID:31489614|PMID:34849271
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:1826	epilepsy		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26467025|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:1891	optic nerve disease		ISO	RGD:1603717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:28492532
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:1909	melanoma		ISO	RGD:1603717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:1923	disorder of sexual development		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:2725	capillary hemangioma		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Capillary hemangioma	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:2841	asthma		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:3275	thymoma		ISO	RGD:1603717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:1603717	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome	PMID:10330339|PMID:20340139|PMID:25741868|PMID:26075876|PMID:28492532|PMID:29655203|PMID:30119717|PMID:36403551|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:480	movement disease		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603717	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:540	strabismus		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:543	dystonia		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:630	genetic disease		ISO	RGD:1603717	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:19201763|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26467025|PMID:26795593|PMID:27604308|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:674	cleft palate		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:83	cataract		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:870	neuropathy		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:11339651|PMID:12376936|PMID:15317752|PMID:17576681|PMID:17679671|PMID:20340139|PMID:21990111|PMID:25741868|PMID:28165011|PMID:28492532|PMID:29631617|PMID:30119717|PMID:30771299|PMID:36801247|PMID:9536098
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:10397057|RGD:11603026|RGD:11603089|RGD:11620185|RGD:11634846|RGD:11645298|RGD:11646983|RGD:11654653|RGD:11663657|RGD:11664432	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive	
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1603717	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9002362	Hyperkinesis		ISO	RGD:1603717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkinetic movements	PMID:25741868
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9002569	Overweight		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	PMID:11339651|PMID:12376936|PMID:15317752|PMID:17576681|PMID:17679671|PMID:20340139|PMID:21990111|PMID:25741868|PMID:28165011|PMID:28492532|PMID:29631617|PMID:30119717|PMID:30771299|PMID:36801247|PMID:9536098
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:10330339|PMID:11339651|PMID:12376936|PMID:15317752|PMID:16199547|PMID:17576681|PMID:17679671|PMID:18684116|PMID:20340139|PMID:21990111|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28165011|PMID:28492532|PMID:28554332|PMID:29056246|PMID:29631617|PMID:30119717|PMID:30771299|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:36801247|PMID:9295267|PMID:9536098|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9004866	Ataxia		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9005329	Preaxial Polydactyly		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Preaxial polydactyly	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Speech delay	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:10330339|PMID:25741868|PMID:28492532|PMID:30541466
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30541466|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9007736	Vertigo		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18283468|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9008675	Dyskinesias		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:936	brain disease		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9834	hyperopia		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832729	Tpp1	tripeptidyl peptidase 1	gene	DOID:9970	obesity		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
8832750	Mrpl4	mitochondrial ribosomal protein L4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832750	Mrpl4	mitochondrial ribosomal protein L4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8832750	Mrpl4	mitochondrial ribosomal protein L4	gene	DOID:1324	lung cancer		ISO	RGD:1323408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8832750	Mrpl4	mitochondrial ribosomal protein L4	gene	DOID:1909	melanoma		ISO	RGD:1323408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8832750	Mrpl4	mitochondrial ribosomal protein L4	gene	DOID:3275	thymoma		ISO	RGD:1323408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8832750	Mrpl4	mitochondrial ribosomal protein L4	gene	DOID:4362	cervical cancer		ISO	RGD:1323408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8832750	Mrpl4	mitochondrial ribosomal protein L4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832750	Mrpl4	mitochondrial ribosomal protein L4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8832750	Mrpl4	mitochondrial ribosomal protein L4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8832750	Mrpl4	mitochondrial ribosomal protein L4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8832750	Mrpl4	mitochondrial ribosomal protein L4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8832769	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8832769	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:0060249	scoliosis		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
8832769	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:0081232	autosomal recessive intellectual developmental disorder 71		ISO	RGD:1602194	D	RGD:7240710	20190911	OMIM			
8832769	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:0081232	autosomal recessive intellectual developmental disorder 71		ISO	RGD:1602194	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALKBH8-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 71 | ClinVar Annotator: match by term: intellectual developmental disorder, autosomal recessive 71	PMID:25741868|PMID:28492532
8832769	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8832769	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:12849	autistic disorder		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
8832769	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8832769	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:4667	kyphosis		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:25741868
8832769	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1602194	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8832769	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832769	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8832769	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:9001510	Funnel Chest		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
8832769	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
8832769	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1602194	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
8832769	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:9005890	Disproportionate Tall Stature		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate tall stature	PMID:25741868
8832769	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1602194	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
8832785	Ccdc102b	coiled-coil domain containing 102B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8832785	Ccdc102b	coiled-coil domain containing 102B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832785	Ccdc102b	coiled-coil domain containing 102B	gene	DOID:10534	stomach cancer		ISO	RGD:1344849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8832785	Ccdc102b	coiled-coil domain containing 102B	gene	DOID:1115	sarcoma		ISO	RGD:1344849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8832785	Ccdc102b	coiled-coil domain containing 102B	gene	DOID:1909	melanoma		ISO	RGD:1344849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8832785	Ccdc102b	coiled-coil domain containing 102B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8832785	Ccdc102b	coiled-coil domain containing 102B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832785	Ccdc102b	coiled-coil domain containing 102B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8832805	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832805	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:0080661	nonsyndromic aplasia cutis congenita		ISO	RGD:1345685	D	RGD:7240710	20200422	OMIM			
8832805	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:0080661	nonsyndromic aplasia cutis congenita		ISO	RGD:1345685	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: BMS1-related condition	PMID:25741868|PMID:28492532
8832805	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:10534	stomach cancer		ISO	RGD:1345685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8832805	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8832805	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:1115	sarcoma		ISO	RGD:1345685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8832805	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:1324	lung cancer		ISO	RGD:1345685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8832805	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:1909	melanoma		ISO	RGD:1345685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8832805	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1345685	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Aplasia cutis congenita | ClinVar Annotator: match by term: aplasia cutis congenita	PMID:23785305|PMID:25741868
8832805	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:4362	cervical cancer		ISO	RGD:1345685	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8832805	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1345685	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8832805	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1345685	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8832805	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832805	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8832805	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8832840	Vps37c	VPS37C subunit of ESCRT-I	gene	DOID:0060058	lymphoma		ISO	RGD:1605989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8832840	Vps37c	VPS37C subunit of ESCRT-I	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8832840	Vps37c	VPS37C subunit of ESCRT-I	gene	DOID:4362	cervical cancer		ISO	RGD:1605989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8832840	Vps37c	VPS37C subunit of ESCRT-I	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8832840	Vps37c	VPS37C subunit of ESCRT-I	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832840	Vps37c	VPS37C subunit of ESCRT-I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8832840	Vps37c	VPS37C subunit of ESCRT-I	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8832867	Aig1	androgen induced 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832867	Aig1	androgen induced 1	gene	DOID:1909	melanoma		ISO	RGD:1346084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8832867	Aig1	androgen induced 1	gene	DOID:3275	thymoma		ISO	RGD:1346084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8832867	Aig1	androgen induced 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8832867	Aig1	androgen induced 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832890	Alg6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832890	Alg6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:0080555	congenital disorder of glycosylation Ic		ISO	RGD:1318803	D	RGD:7240710	20180130	OMIM			
8832890	Alg6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:0080555	congenital disorder of glycosylation Ic		ISO	RGD:1318803	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALG6-related condition | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1C | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1c | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ic	PMID:10359825|PMID:10852543|PMID:10914684|PMID:11106564|PMID:12357336|PMID:12855228|PMID:14517965|PMID:15771971|PMID:16007612|PMID:16199547|PMID:16321363|PMID:17576681|PMID:19862844|PMID:20447155|PMID:21899441|PMID:23044053|PMID:23430515|PMID:25741868|PMID:26453362|PMID:27287710|PMID:28492532|PMID:30653653|PMID:31117816|PMID:32407885|PMID:32635232|PMID:36756224|PMID:39141102|PMID:9536098
8832890	Alg6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1318803	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8832890	Alg6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8832890	Alg6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8832890	Alg6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8832890	Alg6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8832890	Alg6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:2975	cystic kidney disease		ISO	RGD:1318803	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: cystic kidney disease	PMID:25741868|PMID:28492532
8832890	Alg6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8832890	Alg6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1318803	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
8832890	Alg6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8832890	Alg6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1318803	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8832890	Alg6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8832890	Alg6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868
8832890	Alg6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8832890	Alg6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:9007817	Macroglossia		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:25741868
8832890	Alg6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318803	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8832890	Alg6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318803	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
8832890	Alg6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:9256	colorectal cancer		ISO	RGD:1318803	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8832916	Fjx1	four-jointed box kinase 1	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1314537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935819
8832920	CUNH5orf46	chromosome unknown C5orf46 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1605197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8832920	CUNH5orf46	chromosome unknown C5orf46 homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8832920	CUNH5orf46	chromosome unknown C5orf46 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605197	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
8832931	Scaf11	SR-related CTD associated factor 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8832931	Scaf11	SR-related CTD associated factor 11	gene	DOID:10534	stomach cancer		ISO	RGD:1354010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8832931	Scaf11	SR-related CTD associated factor 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8832931	Scaf11	SR-related CTD associated factor 11	gene	DOID:1115	sarcoma		ISO	RGD:1354010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8832931	Scaf11	SR-related CTD associated factor 11	gene	DOID:1909	melanoma		ISO	RGD:1354010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8832931	Scaf11	SR-related CTD associated factor 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8832931	Scaf11	SR-related CTD associated factor 11	gene	DOID:4362	cervical cancer		ISO	RGD:1354010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8832931	Scaf11	SR-related CTD associated factor 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832931	Scaf11	SR-related CTD associated factor 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8832960	Eed	embryonic ectoderm development	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832960	Eed	embryonic ectoderm development	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320306	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8832960	Eed	embryonic ectoderm development	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:25741868
8832960	Eed	embryonic ectoderm development	gene	DOID:10534	stomach cancer		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8832960	Eed	embryonic ectoderm development	gene	DOID:10591	pre-eclampsia		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preeclampsia	PMID:25741868
8832960	Eed	embryonic ectoderm development	gene	DOID:1324	lung cancer		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8832960	Eed	embryonic ectoderm development	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:24457600|PMID:25240281|PMID:35101336
8832960	Eed	embryonic ectoderm development	gene	DOID:1612	breast cancer		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
8832960	Eed	embryonic ectoderm development	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1309782	D	RGD:9068941	20200609	RGD			PMID:24007266|REF_RGD_ID:9588303
8832960	Eed	embryonic ectoderm development	gene	DOID:3192	neurilemmoma		ISO	RGD:1320306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25119042
8832960	Eed	embryonic ectoderm development	gene	DOID:4362	cervical cancer		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8832960	Eed	embryonic ectoderm development	gene	DOID:5041	esophageal cancer		ISO	RGD:1320306	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8832960	Eed	embryonic ectoderm development	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832960	Eed	embryonic ectoderm development	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320306	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8832960	Eed	embryonic ectoderm development	gene	DOID:630	genetic disease		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8832960	Eed	embryonic ectoderm development	gene	DOID:9001209	Cohen-Gibson Syndrome		ISO	RGD:1320306	D	RGD:7240710	20190315	OMIM			
8832960	Eed	embryonic ectoderm development	gene	DOID:9001209	Cohen-Gibson Syndrome		ISO	RGD:1320306	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COHEN-GIBSON SYNDROME | ClinVar Annotator: match by term: Cohen-Gibson syndrome | ClinVar Annotator: match by term: EED-related condition	PMID:17576681|PMID:25741868|PMID:25787343|PMID:27868325|PMID:28229514|PMID:28475857|PMID:28492532|PMID:30793471|PMID:30858506|PMID:34533271|PMID:37840385|PMID:9536098
8832960	Eed	embryonic ectoderm development	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868|PMID:28475857|PMID:30793471|PMID:30858506|PMID:34533271
8832960	Eed	embryonic ectoderm development	gene	DOID:9003133	Hypertelorism		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
8832960	Eed	embryonic ectoderm development	gene	DOID:9004217	Nerve Sheath Neoplasms		ISO	RGD:1320306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25240281
8832960	Eed	embryonic ectoderm development	gene	DOID:9005120	Pigmented Nevus		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanocytic nevus	PMID:25741868|PMID:28475857|PMID:30793471|PMID:30858506|PMID:34533271
8832960	Eed	embryonic ectoderm development	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28475857|PMID:30793471|PMID:30858506|PMID:34533271
8832960	Eed	embryonic ectoderm development	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1320307	D	RGD:9068941	20221103	RGD		mRNA:altered expression:kidney (mouse)	PMID:18467665|REF_RGD_ID:155631277
8832960	Eed	embryonic ectoderm development	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8832960	Eed	embryonic ectoderm development	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8832960	Eed	embryonic ectoderm development	gene	DOID:9834	hyperopia		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
8832984	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8832984	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8832984	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8832984	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8832984	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8832984	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8832984	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8832984	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1607008	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8832984	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8832984	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8832984	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8832984	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8832984	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8832984	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8833008	Slc38a1	solute carrier family 38 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8833008	Slc38a1	solute carrier family 38 member 1	gene	DOID:10534	stomach cancer		ISO	RGD:735316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8833008	Slc38a1	solute carrier family 38 member 1	gene	DOID:1324	lung cancer		ISO	RGD:735316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8833008	Slc38a1	solute carrier family 38 member 1	gene	DOID:1909	melanoma		ISO	RGD:735316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8833008	Slc38a1	solute carrier family 38 member 1	gene	DOID:3275	thymoma		ISO	RGD:735316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8833008	Slc38a1	solute carrier family 38 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833008	Slc38a1	solute carrier family 38 member 1	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:735316	D	RGD:9068941	20220224	RGD			PMID:26389641|REF_RGD_ID:151361140
8833008	Slc38a1	solute carrier family 38 member 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:735316	D	RGD:9068941	20220224	RGD			PMID:26389641|REF_RGD_ID:151361140
8833008	Slc38a1	solute carrier family 38 member 1	gene	DOID:9007090	Experimental Seizures		ISO	RGD:69645	D	RGD:9068941	20241214	RGD		mRNA:increased expression:hippocampus	PMID:21138736|REF_RGD_ID:9999229
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25217958
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25217958
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:0061220	pheochromocytoma/paraganglioma syndrome 5		ISO	RGD:1606319	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 5	
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:0070031	autosomal dominant intellectual developmental disorder 1		ISO	RGD:1606319	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 1	PMID:25741868
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:0070060	autosomal dominant intellectual developmental disorder 30		ISO	RGD:1606319	D	RGD:7240710	20180130	OMIM			
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:0070060	autosomal dominant intellectual developmental disorder 30		ISO	RGD:1606319	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 30, WITH SPEECH DELAY AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 30 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 30 | ClinVar Annotator: match by term: ZMYND11-related condition	PMID:22542183|PMID:25217958|PMID:25281490|PMID:25741868|PMID:25741899|PMID:27334371|PMID:27626064|PMID:28191890|PMID:28492532|PMID:28708303|PMID:28933030|PMID:31618753|PMID:34216016|PMID:35172867|PMID:38290943|PMID:39678379|PMID:41652659
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25217958
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:10534	stomach cancer		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:1059	intellectual disability		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25217958|PMID:25741868|PMID:28492532|PMID:31618753|PMID:34216016
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:12849	autistic disorder		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25217958
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:13922	eosinophilic esophagitis		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Eosinophilic esophagitis	PMID:25217958
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:1826	epilepsy		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: epilepsy	PMID:22542183|PMID:24463507|PMID:25217958|PMID:25741868|PMID:27626064|PMID:28492532|PMID:31618753|PMID:32097528|PMID:34216016
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25217958
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:3275	thymoma		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:4362	cervical cancer		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:480	movement disease		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25217958
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1606319	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:540	strabismus		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:5419	schizophrenia		ISO	RGD:1606319	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:630	genetic disease		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25217958|PMID:25741868|PMID:28492532|PMID:31618753|PMID:38290943|PMID:39678379
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25217958
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25217958|PMID:25741868
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:9003816	Macrocephaly		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25217958|PMID:25741868|PMID:28492532|PMID:34216016
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:9005077	Joint Instability		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25217958
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25217958
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:9007573	Flatfoot		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:9007661	Dwarfism		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25217958
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22542183|PMID:25217958|PMID:25741868|PMID:27626064|PMID:28492532|PMID:39678379
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:9008268	Enuresis		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enuresis	PMID:25217958|PMID:25741868|PMID:28492532|PMID:34216016
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:9008879	Self Mutilation		ISO	RGD:1606319	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Self-mutilation	PMID:25741868
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:9834	hyperopia		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
8833058	Zmynd11	zinc finger MYND-type containing 11	gene	DOID:9970	obesity		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
8833098	Phf20l1	PHD finger protein 20 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8833098	Phf20l1	PHD finger protein 20 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606010	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8833098	Phf20l1	PHD finger protein 20 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8833098	Phf20l1	PHD finger protein 20 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8833098	Phf20l1	PHD finger protein 20 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8833098	Phf20l1	PHD finger protein 20 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8833098	Phf20l1	PHD finger protein 20 like 1	gene	DOID:1909	melanoma		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8833098	Phf20l1	PHD finger protein 20 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833098	Phf20l1	PHD finger protein 20 like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606010	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8833098	Phf20l1	PHD finger protein 20 like 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8833098	Phf20l1	PHD finger protein 20 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833098	Phf20l1	PHD finger protein 20 like 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8833098	Phf20l1	PHD finger protein 20 like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8833098	Phf20l1	PHD finger protein 20 like 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8833098	Phf20l1	PHD finger protein 20 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833098	Phf20l1	PHD finger protein 20 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8833098	Phf20l1	PHD finger protein 20 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8833144	Nat9	N-acetyltransferase 9	gene	DOID:10534	stomach cancer		ISO	RGD:1606805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8833144	Nat9	N-acetyltransferase 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8833144	Nat9	N-acetyltransferase 9	gene	DOID:1324	lung cancer		ISO	RGD:1606805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8833144	Nat9	N-acetyltransferase 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8833144	Nat9	N-acetyltransferase 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8833144	Nat9	N-acetyltransferase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833157	Ehd2	EH domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8833157	Ehd2	EH domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1348695	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8833157	Ehd2	EH domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1348695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8833157	Ehd2	EH domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1348695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8833157	Ehd2	EH domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8833157	Ehd2	EH domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833168	Chst12	carbohydrate sulfotransferase 12	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1317861	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8833168	Chst12	carbohydrate sulfotransferase 12	gene	DOID:10763	hypertension		ISO	RGD:1308214	D	RGD:9068941	20210122	RGD		mRNA:decreased expression:renal cortex and medulla (rat)	PMID:25001272|REF_RGD_ID:8693701
8833168	Chst12	carbohydrate sulfotransferase 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833168	Chst12	carbohydrate sulfotransferase 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8833190	Igfals	insulin like growth factor binding protein acid labile subunit	gene	DOID:0060870	isolated growth hormone deficiency		ISO	RGD:68640	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:11248743|REF_RGD_ID:12910859
8833190	Igfals	insulin like growth factor binding protein acid labile subunit	gene	DOID:0080552	congenital disorder of glycosylation Ia		ISO	RGD:68640	D	RGD:9068941	20200609	RGD			PMID:19207313|REF_RGD_ID:12910858
8833190	Igfals	insulin like growth factor binding protein acid labile subunit	gene	DOID:1184	nephrotic syndrome		ISO	RGD:68640	D	RGD:9068941	20200609	RGD			PMID:11248742|REF_RGD_ID:12910863
8833190	Igfals	insulin like growth factor binding protein acid labile subunit	gene	DOID:1909	melanoma		ISO	RGD:68640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8833190	Igfals	insulin like growth factor binding protein acid labile subunit	gene	DOID:3490	Noonan syndrome		ISO	RGD:68640	D	RGD:9068941	20200609	RGD			PMID:16263833|REF_RGD_ID:11063837
8833190	Igfals	insulin like growth factor binding protein acid labile subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833190	Igfals	insulin like growth factor binding protein acid labile subunit	gene	DOID:630	genetic disease		ISO	RGD:68640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:37806643
8833190	Igfals	insulin like growth factor binding protein acid labile subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68640	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8833190	Igfals	insulin like growth factor binding protein acid labile subunit	gene	DOID:8689	anorexia nervosa		ISO	RGD:68640	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:11248743|REF_RGD_ID:12910859
8833190	Igfals	insulin like growth factor binding protein acid labile subunit	gene	DOID:9000528	Coronary Disease		ISO	RGD:68640	D	RGD:9068941	20200609	RGD			PMID:15521962|REF_RGD_ID:1626121
8833190	Igfals	insulin like growth factor binding protein acid labile subunit	gene	DOID:9001239	Delayed Puberty		ISO	RGD:68640	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14762184|PMID:17726072
8833190	Igfals	insulin like growth factor binding protein acid labile subunit	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:68640	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8833190	Igfals	insulin like growth factor binding protein acid labile subunit	gene	DOID:9003733	Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency		ISO	RGD:68640	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:21636299|REF_RGD_ID:12910854
8833190	Igfals	insulin like growth factor binding protein acid labile subunit	gene	DOID:9005930	Endotoxemia		ISO	RGD:68429	D	RGD:9068941	20200609	RGD			PMID:12217886|REF_RGD_ID:625688
8833190	Igfals	insulin like growth factor binding protein acid labile subunit	gene	DOID:9006257	Growth Disorders		ISO	RGD:68640	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14762184|PMID:17726072
8833190	Igfals	insulin like growth factor binding protein acid labile subunit	gene	DOID:9007303	Idiopathic Short Stature, Autosomal		ISO	RGD:68640	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.L127P (c.380T>C) (human)	PMID:23488611|REF_RGD_ID:12910853
8833190	Igfals	insulin like growth factor binding protein acid labile subunit	gene	DOID:9007692	Insulin Resistance		ISO	RGD:68640	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17726072
8833190	Igfals	insulin like growth factor binding protein acid labile subunit	gene	DOID:9007730	Burns		ISO	RGD:68429	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:10827012|REF_RGD_ID:12910869
8833190	Igfals	insulin like growth factor binding protein acid labile subunit	gene	DOID:9008272	Acid-Labile Subunit Deficiency		ISO	RGD:68640	D	RGD:7240710	20180130	OMIM			
8833190	Igfals	insulin like growth factor binding protein acid labile subunit	gene	DOID:9008272	Acid-Labile Subunit Deficiency		ISO	RGD:68640	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACID-LABILE SUBUNIT DEFICIENCY | ClinVar Annotator: match by term: IGFALS-related condition | ClinVar Annotator: match by term: Short stature due to primary acid-labile subunit deficiency	PMID:17726072|PMID:18303074|PMID:20591980|PMID:22678306|PMID:22991227|PMID:23488611|PMID:24335034|PMID:25741868|PMID:26418010|PMID:27018247|PMID:28492532
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:0080197	congenital muscular dystrophy with cataracts and intellectual disability		ISO	RGD:1604357	D	RGD:7240710	20190315	OMIM			
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:0080197	congenital muscular dystrophy with cataracts and intellectual disability		ISO	RGD:1604357	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy with cataracts and intellectual disability | ClinVar Annotator: match by term: INPP5K-related condition | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND IMPAIRED INTELLECTUAL DEVELOPMENT	PMID:25741868|PMID:28190456|PMID:28492532|PMID:28940338|PMID:33119550
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:0081337	congenital myopathy		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:10534	stomach cancer		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:1059	intellectual disability		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:10907	microcephaly		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:1324	lung cancer		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:2340	craniosynostosis		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:3275	thymoma		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:423	myopathy		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:4362	cervical cancer		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:5041	esophageal cancer		ISO	RGD:1604357	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:6039	uveal melanoma		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:630	genetic disease		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26940976|PMID:28190459
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:83	cataract		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:9000343	Vision Disorders		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
8833200	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8833221	Ttpal	alpha tocopherol transfer protein like	gene	DOID:1909	melanoma		ISO	RGD:1313976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8833221	Ttpal	alpha tocopherol transfer protein like	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8833221	Ttpal	alpha tocopherol transfer protein like	gene	DOID:4362	cervical cancer		ISO	RGD:1313976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833221	Ttpal	alpha tocopherol transfer protein like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833221	Ttpal	alpha tocopherol transfer protein like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8833242	Dsp	desmoplakin	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1314043	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:23583980
8833242	Dsp	desmoplakin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8833242	Dsp	desmoplakin	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Right ventricular cardiomyopathy	PMID:11063735|PMID:12101406|PMID:12802069|PMID:16199547|PMID:19358943|PMID:20400443|PMID:20716751|PMID:21606390|PMID:21606396|PMID:21756917|PMID:21859740|PMID:22240500|PMID:22555271|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23810894|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:24704780|PMID:24901346|PMID:25157032|PMID:25227139|PMID:25516398|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25741868|PMID:26187847|PMID:26230511|PMID:26383259|PMID:26569459|PMID:26606670|PMID:26656175|PMID:26846766|PMID:26850880|PMID:26899768|PMID:27153395|PMID:27532257|PMID:28416588|PMID:28436997|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28790152|PMID:29062697|PMID:29511324|PMID:29633331|PMID:29892087|PMID:29915098|PMID:30398466|PMID:30821013|PMID:30847666|PMID:31131953|PMID:31194698|PMID:31317183|PMID:31319917|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31589614|PMID:31727422|PMID:31737537|PMID:31983221|PMID:32372669|PMID:32746448|PMID:32878047|PMID:33079602|PMID:33313835|PMID:33684294|PMID:33821670|PMID:33996946|PMID:34011823|PMID:34352074|PMID:34368507|PMID:34640625|PMID:34930020|PMID:34946881|PMID:35083019|PMID:35151254|PMID:35474678|PMID:35653365|PMID:35766183|PMID:35819174|PMID:36264615|PMID:36291626|PMID:36431211|PMID:36580316|PMID:36768812|PMID:37361972|PMID:37904629|PMID:38938828|PMID:39288222|PMID:39472908
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16061754|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30354334|PMID:30382575|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31319917|PMID:31333075|PMID:31402444|PMID:31568572|PMID:31737537|PMID:31983221|PMID:33232181|PMID:34213952|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30354334|PMID:30382575|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31402444|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32372669|PMID:32746448|PMID:32880476|PMID:32942234|PMID:33232181|PMID:34213952|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30206291|PMID:30354334|PMID:30382575|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31402444|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32372669|PMID:32746448|PMID:32880476|PMID:32942234|PMID:33232181|PMID:34213952|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29178656|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29607617|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32746448|PMID:32880476|PMID:32942234|PMID:33232181|PMID:34137518|PMID:34213952|PMID:34290054|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22949226|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25856671|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29915098|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32746448|PMID:32879264|PMID:32880476|PMID:32942234|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:35083019|PMID:35087879|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10395892|PMID:11063735|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21270786|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25856671|PMID:25974703|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29878302|PMID:29915098|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32879264|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:35083019|PMID:35087879|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy	PMID:10395892|PMID:11063735|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25856671|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29878302|PMID:29915098|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32879264|PMID:32880476|PMID:32942234|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34486814|PMID:35083019|PMID:35087879|PMID:35581137|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10395892|PMID:11063735|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25856671|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29915098|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32879264|PMID:32880476|PMID:32942234|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:33996946|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34486814|PMID:35008956|PMID:35083019|PMID:35087879|PMID:35581137|PMID:35653365|PMID:35766183|PMID:36431211|PMID:36672924|PMID:37477868|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10395892|PMID:11063735|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25856671|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29915098|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32879264|PMID:32880476|PMID:32942234|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:33996946|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34486814|PMID:34815391|PMID:35008956|PMID:35083019|PMID:35087879|PMID:35581137|PMID:35653365|PMID:35766183|PMID:36431211|PMID:36672924|PMID:37477868|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10395892|PMID:11063735|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25856671|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29915098|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32592540|PMID:32600061|PMID:32879264|PMID:32880476|PMID:32942234|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:33996946|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34486814|PMID:34815391|PMID:35008956|PMID:35083019|PMID:35087879|PMID:35581137|PMID:35653365|PMID:35766183|PMID:36431211|PMID:36672924|PMID:37477868|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10395892|PMID:10594734|PMID:11063735|PMID:11841538|PMID:12101406|PMID:12802069|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16199547|PMID:16467215|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:2450378|PMID:24503780|PMID:24598986|PMID:246676|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25825460|PMID:25856671|PMID:26073755|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27854218|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28087566|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28784889|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29555771|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29892087|PMID:29915098|PMID:29956481|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30122538|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31064352|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31447099|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32005173|PMID:32114801|PMID:32233023|PMID:32268277|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32516855|PMID:32592540|PMID:32600061|PMID:32659924|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33079602|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33684294|PMID:33722762|PMID:33762593|PMID:33857019|PMID:33996946|PMID:34026522|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34298581|PMID:34317553|PMID:34352074|PMID:34368507|PMID:34389451|PMID:34486814|PMID:34815391|PMID:34935411|PMID:35008956|PMID:35083019|PMID:35087879
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:35151254|PMID:35444050|PMID:35474678|PMID:35581137|PMID:35653365|PMID:35766183|PMID:35819174|PMID:36178741|PMID:36431211|PMID:36672924|PMID:36768812|PMID:36836569|PMID:36868229|PMID:37461109|PMID:37477868|PMID:37589201|PMID:37904629|PMID:491020|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10395892|PMID:10594734|PMID:11063735|PMID:11841538|PMID:12101406|PMID:12802069|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16199547|PMID:16467215|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23891292|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:2450378|PMID:24503780|PMID:24598986|PMID:246676|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25825460|PMID:25856671|PMID:26073755|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28008423|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28087566|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28784889|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29555771|PMID:29590070|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29885824|PMID:29892087|PMID:29915098|PMID:29956481|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30122538|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31064352|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31447099|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32005173|PMID:32114801|PMID:32233023|PMID:32268277|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32516855|PMID:32592540|PMID:32600061|PMID:32659924|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33079602|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33684294|PMID:33722762|PMID:33762593|PMID:33821670|PMID:33857019|PMID:33874732|PMID:33996946|PMID:34026522|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34298581|PMID:34317553|PMID:34352074|PMID:34368507|PMID:34389451|PMID:34486814|PMID:34815391
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:34935411|PMID:35008956|PMID:35026164|PMID:35083019|PMID:35087879|PMID:35151254|PMID:35444050|PMID:35474678|PMID:35581137|PMID:35653365|PMID:35766183|PMID:35819174|PMID:36178741|PMID:36431211|PMID:36672924|PMID:36768812|PMID:36836569|PMID:36868229|PMID:37461109|PMID:37477868|PMID:37589201|PMID:37904629|PMID:37937776|PMID:491020|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10395892|PMID:10594734|PMID:11063735|PMID:11841538|PMID:12101406|PMID:12802069|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16199547|PMID:16467215|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20524011|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23891292|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:2450378|PMID:24503780|PMID:24598986|PMID:246676|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25825460|PMID:25856671|PMID:26073755|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28008423|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28087566|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28784889|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29555771|PMID:29590070|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29885824|PMID:29892087|PMID:29915097|PMID:29915098|PMID:29956481|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30122538|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31064352|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31447099|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32005173|PMID:32114801|PMID:32228044|PMID:32233023|PMID:32268277|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32516855|PMID:32592540|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33079602|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33684294|PMID:33722762|PMID:33762593|PMID:33821670|PMID:33857019|PMID:33874732|PMID:33996946|PMID:34026522|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34298581|PMID:34317553
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:34352074|PMID:34368507|PMID:34389451|PMID:34486814|PMID:34815391|PMID:34935411|PMID:35008956|PMID:35026164|PMID:35083019|PMID:35087879|PMID:35151254|PMID:35444050|PMID:35474678|PMID:35581137|PMID:35653365|PMID:35766183|PMID:35819174|PMID:36178741|PMID:36431211|PMID:36580316|PMID:36672924|PMID:36768812|PMID:36836569|PMID:36868229|PMID:37461109|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37904629|PMID:37937776|PMID:491020|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10395892|PMID:10594734|PMID:11063735|PMID:11841538|PMID:12101406|PMID:12802069|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16199547|PMID:16467215|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20524011|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23891292|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:2450378|PMID:24503780|PMID:24598986|PMID:246676|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25825460|PMID:25856671|PMID:26073755|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28008423|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28087566|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28784889|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29555771|PMID:29590070|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29885824|PMID:29892087|PMID:29915097|PMID:29915098|PMID:29956481|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30122538|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31064352|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31447099|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32005173|PMID:32114801|PMID:32228044|PMID:32233023|PMID:32268277|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32516855|PMID:32592540|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33079602|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33684294|PMID:33722762|PMID:33762593|PMID:33821670|PMID:33857019|PMID:33874732|PMID:33996946|PMID:34026522|PMID:34033898|PMID:34135346|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34298581
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:34317553|PMID:34352074|PMID:34368507|PMID:34389451|PMID:34486814|PMID:34815391|PMID:34935411|PMID:35008956|PMID:35026164|PMID:35083019|PMID:35087879|PMID:35151254|PMID:35444050|PMID:35474678|PMID:35581137|PMID:35653365|PMID:35766183|PMID:35819174|PMID:36138163|PMID:36178741|PMID:36431211|PMID:36580316|PMID:36672924|PMID:36768812|PMID:36836569|PMID:36868229|PMID:37461109|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37904629|PMID:37936624|PMID:37937776|PMID:491020|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10395892|PMID:10594734|PMID:11063735|PMID:11841538|PMID:12101406|PMID:12802069|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16199547|PMID:16467215|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20524011|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23891292|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24901346|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25403600|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25733715|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25825460|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26084686|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26545710|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28008423|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28087566|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28784889|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29165669|PMID:29178656|PMID:29181379|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29555771|PMID:29590070|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29885824|PMID:29892087|PMID:29915097|PMID:29915098|PMID:29956481|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30122538|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31064352|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31131953|PMID:31194698|PMID:31195250|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31447099|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31847883|PMID:3198322|PMID:31983221|PMID:32005173|PMID:32114801|PMID:32228044|PMID:32233023|PMID:32268277|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32522011|PMID:32592540|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32878047|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33049752|PMID:33079602|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33684294|PMID:33722762
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:33762593|PMID:33821670|PMID:33874732|PMID:33996946|PMID:34026522|PMID:34033898|PMID:34135346|PMID:34137518|PMID:34194005|PMID:34213952|PMID:34290054|PMID:34298581|PMID:34317553|PMID:34352074|PMID:34368507|PMID:34389451|PMID:34486814|PMID:34640625|PMID:34815391|PMID:34930020|PMID:34935411|PMID:35008956|PMID:35026164|PMID:35083019|PMID:35087879|PMID:35151254|PMID:35352813|PMID:35444050|PMID:35470680|PMID:35474678|PMID:35475074|PMID:35581137|PMID:35653365|PMID:35766183|PMID:35819174|PMID:36008935|PMID:36136372|PMID:36138163|PMID:36178741|PMID:36264615|PMID:36431211|PMID:36580316|PMID:36672924|PMID:36768812|PMID:36836569|PMID:36868229|PMID:37198425|PMID:37418234|PMID:37461109|PMID:37477868|PMID:37510372|PMID:37589201|PMID:37652022|PMID:37904629|PMID:37936624|PMID:37937776|PMID:38254962|PMID:38540378|PMID:38691546|PMID:38933053|PMID:38938828|PMID:39205944|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: TNNI3-related disorder	PMID:10594734|PMID:11063735|PMID:11841538|PMID:12101406|PMID:12802069|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16199547|PMID:16467215|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20524011|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23891292|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24901346|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25403600|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25733715|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25825460|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26084686|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26545710|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28008423|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28087566|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28784889|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29165669|PMID:29178656|PMID:29181379|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29555771|PMID:29590070|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29885824|PMID:29892087|PMID:29915097|PMID:29915098|PMID:29956481|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30122538|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31064352|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31131953|PMID:31194698|PMID:31195250|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31447099|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638414|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31847883|PMID:3198322|PMID:31983221|PMID:32005173|PMID:32114801|PMID:32228044|PMID:32233023|PMID:32268277|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32522011|PMID:32592540|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32878047|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33049752|PMID:33079602|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33684294|PMID:33722762|PMID:33762593|PMID:33821670|PMID:33874732|PMID:33996946|PMID:34026522
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: TNNI3-related disorder	PMID:34033898|PMID:34135346|PMID:34137518|PMID:34194005|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34368507|PMID:34389451|PMID:34486814|PMID:34640625|PMID:34815391|PMID:34930020|PMID:35008956|PMID:35026164|PMID:35083019|PMID:35087879|PMID:35151254|PMID:35352813|PMID:35444050|PMID:35470680|PMID:35474678|PMID:35475074|PMID:35581137|PMID:35653365|PMID:35766183|PMID:35819174|PMID:36008935|PMID:36136372|PMID:36138163|PMID:36178741|PMID:36264615|PMID:36431211|PMID:36580316|PMID:36672924|PMID:36768812|PMID:36836569|PMID:36868229|PMID:37198425|PMID:37418234|PMID:37461109|PMID:37477868|PMID:37510372|PMID:37589201|PMID:37652022|PMID:37904629|PMID:37936624|PMID:37937776|PMID:38254962|PMID:38540378|PMID:38691546|PMID:38933053|PMID:38938828|PMID:39205944|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: cardiomyopathy	PMID:11063735|PMID:11841538|PMID:12101406|PMID:12802069|PMID:15210133|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16467215|PMID:16917092|PMID:17576681|PMID:17934502|PMID:19178614|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22216297|PMID:22555271|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23891292|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24901346|PMID:24967631|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25403600|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25637381|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25825460|PMID:25979592|PMID:26084686|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26399581|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26846766|PMID:26899768|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27413182|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28361054|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28767663|PMID:28784889|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29095814|PMID:29165669|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29555771|PMID:29606362|PMID:29607617|PMID:29759408|PMID:29802319|PMID:29884292|PMID:29885824|PMID:29892087|PMID:29915097|PMID:29956481|PMID:29961767|PMID:30086531|PMID:30122538|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30398466|PMID:30403391|PMID:30615648|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30821013|PMID:30847666|PMID:30919684|PMID:30975432|PMID:30993396|PMID:31064352|PMID:31114860|PMID:31118017|PMID:31131953|PMID:31194698|PMID:31195250|PMID:31317183|PMID:31333075|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31447099|PMID:31484862|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638414|PMID:31737537|PMID:31770195|PMID:3198322|PMID:31983221|PMID:32005173|PMID:32164419|PMID:32233023|PMID:32268277|PMID:32372669|PMID:32410525|PMID:32522011|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32878047|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32969603|PMID:33029862|PMID:33049752|PMID:33082984|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33684294|PMID:33821670|PMID:33874732|PMID:33954932|PMID:34137518|PMID:34194005|PMID:34317553|PMID:34352074|PMID:34368507|PMID:34426522|PMID:34486814|PMID:34640625|PMID:34815391|PMID:34930020|PMID:35008956|PMID:35026164|PMID:35083019|PMID:35087879|PMID:35200695|PMID:35352813|PMID:35444050|PMID:35470680|PMID:35474678|PMID:35653365|PMID:35766183|PMID:35819174|PMID:35947370|PMID:36008935|PMID:36178741|PMID:36264615|PMID:36431211|PMID:36580316|PMID:36768812|PMID:36788754|PMID:37198425|PMID:37418234|PMID:37450050|PMID:37461109|PMID:37477868|PMID:37510372|PMID:37589201|PMID:37652022|PMID:37702310|PMID:37881594|PMID:37904629|PMID:37937776|PMID:38254962|PMID:38489124|PMID:38540378|PMID:38691546|PMID:38757491|PMID:38895864|PMID:38938828|PMID:39205944|PMID:39285490|PMID:39288222|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:11063735|PMID:11841538|PMID:12101406|PMID:12802069|PMID:15210133|PMID:16199547|PMID:16467215|PMID:17576681|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22216297|PMID:22240500|PMID:22555271|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23891292|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24901346|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25403600|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25825460|PMID:25979592|PMID:26073755|PMID:26084686|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26846766|PMID:26850880|PMID:26899768|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27413182|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28361054|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28767663|PMID:28784889|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29095814|PMID:29165669|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29555771|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29884292|PMID:29885824|PMID:29892087|PMID:29915097|PMID:29956481|PMID:29961767|PMID:30086531|PMID:30122538|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30398466|PMID:30403391|PMID:30615648|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30821013|PMID:30847666|PMID:30975432|PMID:30993396|PMID:31028937|PMID:31064352|PMID:31114860|PMID:31118017|PMID:31131953|PMID:31194698|PMID:31195250|PMID:31251381|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31447099|PMID:31484862|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31770195|PMID:31983221|PMID:32005173|PMID:32164419|PMID:32233023|PMID:32268277|PMID:32372669|PMID:32410525|PMID:32522011|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32878047|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32969603|PMID:33029862|PMID:33049752|PMID:33079602|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33684294|PMID:33821670|PMID:33874732|PMID:33954932|PMID:34137518|PMID:34194005|PMID:34317553|PMID:34352074|PMID:34368507|PMID:34486814|PMID:34640625|PMID:34815391|PMID:34930020|PMID:35008956|PMID:35026164|PMID:35083019|PMID:35087879|PMID:35151254|PMID:35200695|PMID:35352813|PMID:35444050|PMID:35470680|PMID:35474678|PMID:35653365|PMID:35766183|PMID:35819174|PMID:35947370|PMID:36008935|PMID:36178741|PMID:36264615|PMID:36431211|PMID:36580316|PMID:36768812|PMID:36788754|PMID:37198425|PMID:37418234|PMID:37461109|PMID:37477868|PMID:37510372|PMID:37589201|PMID:37652022|PMID:37702310|PMID:37881594|PMID:37904629|PMID:37937776|PMID:38254962|PMID:38489124|PMID:38540378|PMID:38691546|PMID:38757491|PMID:38895864|PMID:38938828|PMID:39205944|PMID:39285490|PMID:39288222|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8833242	Dsp	desmoplakin	gene	DOID:0051064	left ventricular failure		ISO	RGD:1314043	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Left ventricular failure	PMID:20400443|PMID:20716751|PMID:21606390|PMID:21859740|PMID:22555271|PMID:23137101|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:30398466|PMID:31402444|PMID:33821670|PMID:35653365|PMID:35766183
8833242	Dsp	desmoplakin	gene	DOID:0060319	cardiac arrest		ISO	RGD:1314043	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: Cardiac Arrest | ClinVar Annotator: match by term: Cardiac arrest	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:0060352	Kleefstra syndrome 1		ISO	RGD:1314043	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Kleefstra syndrome 1	
8833242	Dsp	desmoplakin	gene	DOID:0060480	left ventricular noncompaction		ISO	RGD:1314043	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction | ClinVar Annotator: match by term: Non compaction cardiomyopathy	PMID:25741868|PMID:28492532|PMID:31983221
8833242	Dsp	desmoplakin	gene	DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1		ISO	RGD:1314043	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1	PMID:28492532|PMID:33552729
8833242	Dsp	desmoplakin	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:0070554	palmoplantar keratoderma and woolly hair		ISO	RGD:1314043	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome	PMID:10395892|PMID:12101406|PMID:12802069|PMID:15210133|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20524011|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23891292|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24448499|PMID:2450378|PMID:24503780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26743238|PMID:26833927|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28008423|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29062697|PMID:29095814|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29511324|PMID:29590070|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29885824|PMID:29915098|PMID:30086531|PMID:30165862|PMID:30276209|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31073624|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31333075|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32516855|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33722762|PMID:33762593|PMID:33857019|PMID:33874732|PMID:33996946|PMID:34026522|PMID:34033898|PMID:34290054|PMID:34298581|PMID:34317553|PMID:34352074|PMID:34389451|PMID:34815391|PMID:34935411|PMID:35008956|PMID:35026164|PMID:35087879|PMID:35444050|PMID:35581137|PMID:35819174|PMID:36178741|PMID:36431211|PMID:36672924|PMID:36768812|PMID:36868229|PMID:37589201|PMID:37904629|PMID:37937776|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0070554	palmoplantar keratoderma and woolly hair		ISO	RGD:1314043	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair | ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome	PMID:10395892|PMID:12101406|PMID:12802069|PMID:15210133|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20524011|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23891292|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24448499|PMID:2450378|PMID:24503780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26833927|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28008423|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29062697|PMID:29095814|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29511324|PMID:29590070|PMID:29606362|PMID:29607617|PMID:29618732|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29885824|PMID:29915098|PMID:30086531|PMID:30165862|PMID:30276209|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31073624|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31333075|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32516855|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33722762|PMID:33762593|PMID:33857019|PMID:33874732|PMID:33996946|PMID:34026522|PMID:34033898|PMID:34137518|PMID:34290054|PMID:34298581|PMID:34317553|PMID:34352074|PMID:34389451|PMID:34815391|PMID:34935411|PMID:35008956|PMID:35026164|PMID:35087879|PMID:35352813|PMID:35444050|PMID:35581137|PMID:35819174|PMID:36178741|PMID:36431211|PMID:36672924|PMID:36768812|PMID:36868229|PMID:37198425|PMID:37589201|PMID:37652022|PMID:37904629|PMID:37936624|PMID:37937776|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0070554	palmoplantar keratoderma and woolly hair		ISO	RGD:1314043	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome	PMID:12101406|PMID:12802069|PMID:17576681|PMID:20400443|PMID:20716751|PMID:21397041|PMID:21636032|PMID:21756917|PMID:23651034|PMID:23861362|PMID:23891292|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25741868|PMID:25979592|PMID:26099957|PMID:26187847|PMID:26220970|PMID:26272908|PMID:26399581|PMID:26585738|PMID:26604139|PMID:26833927|PMID:26846766|PMID:27532257|PMID:27698334|PMID:27930701|PMID:28255936|PMID:28341588|PMID:28361054|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28790152|PMID:29062697|PMID:29095814|PMID:29606362|PMID:29802319|PMID:29885824|PMID:30398466|PMID:30615648|PMID:30731207|PMID:30775854|PMID:30847666|PMID:31114860|PMID:31118017|PMID:31514951|PMID:31534214|PMID:31770195|PMID:31983221|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:33082984|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33684294|PMID:33874732|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35026164|PMID:35087879|PMID:35444050|PMID:36008935|PMID:36768812|PMID:37198425|PMID:37589201|PMID:37652022|PMID:37702310|PMID:37904629|PMID:38895864|PMID:39288222|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:30847666|PMID:31264976|PMID:31402444|PMID:31983221
8833242	Dsp	desmoplakin	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:30847666|PMID:31402444|PMID:31983221|PMID:37418234
8833242	Dsp	desmoplakin	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31983221
8833242	Dsp	desmoplakin	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1314043	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:25741868
8833242	Dsp	desmoplakin	gene	DOID:0080600	COVID-19		ISO	RGD:1314043	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease COVID-19	
8833242	Dsp	desmoplakin	gene	DOID:0081109	keratosis palmoplantaris striata 2		ISO	RGD:1314043	D	RGD:7240710	20180130	OMIM			
8833242	Dsp	desmoplakin	gene	DOID:0081109	keratosis palmoplantaris striata 2		ISO	RGD:1314043	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: KERATODERMA, PALMOPLANTAR, STRIATE FORM II | ClinVar Annotator: match by term: Keratosis palmoplantaris striata 2 | ClinVar Annotator: match by term: Keratosis palmoplantaris striata II | ClinVar Annotator: match by term: STRIATE PALMOPLANTAR KERATODERMA II	PMID:10594734|PMID:11063735|PMID:12101406|PMID:12802069|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19863551|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22454510|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23891292|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25637381|PMID:25691752|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25825460|PMID:25979592|PMID:26099957|PMID:26138720|PMID:26187847|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26399581|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26833927|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27930701|PMID:28008423|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29062697|PMID:29095814|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29386531|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29802319|PMID:29885824|PMID:29915098|PMID:30165862|PMID:30276209|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30731207|PMID:30775854|PMID:30847666|PMID:30975432|PMID:31073624|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33722762|PMID:33874732|PMID:33996946|PMID:34026522|PMID:34135346|PMID:34290054|PMID:34298581|PMID:34317553|PMID:34352074|PMID:34389451|PMID:34815391|PMID:34935411|PMID:35008956|PMID:35026164|PMID:35083019|PMID:35087879|PMID:35444050|PMID:35581137|PMID:35819174|PMID:36138163|PMID:36178741|PMID:36431211|PMID:36580316|PMID:36672924|PMID:36768812|PMID:36868229|PMID:37198425|PMID:37589201|PMID:37904629|PMID:37936624|PMID:9536098|PMID:9887343
8833242	Dsp	desmoplakin	gene	DOID:0081109	keratosis palmoplantaris striata 2		ISO	RGD:1314043	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Keratosis palmoplantaris striata 2 | ClinVar Annotator: match by term: Keratosis palmoplantaris striata II | ClinVar Annotator: match by term: STRIATE PALMOPLANTAR KERATODERMA II	PMID:10594734|PMID:11063735|PMID:12101406|PMID:12802069|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19863551|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22454510|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23891292|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25637381|PMID:25691752|PMID:25733715|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25825460|PMID:25979592|PMID:26099957|PMID:26138720|PMID:26187847|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26399581|PMID:26545710|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26833927|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27930701|PMID:28008423|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29062697|PMID:29095814|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29386531|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29802319|PMID:29885824|PMID:29915098|PMID:30165862|PMID:30276209|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30731207|PMID:30775854|PMID:30847666|PMID:30975432|PMID:31073624|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33722762|PMID:33874732|PMID:33996946|PMID:34026522|PMID:34135346|PMID:34137518|PMID:34290054|PMID:34298581|PMID:34317553|PMID:34352074|PMID:34389451|PMID:34815391|PMID:34935411|PMID:35008956|PMID:35026164|PMID:35083019|PMID:35087879|PMID:35352813|PMID:35444050|PMID:35581137|PMID:35819174|PMID:36138163|PMID:36178741|PMID:36431211|PMID:36580316|PMID:36672924|PMID:36768812|PMID:36868229|PMID:37198425|PMID:37589201|PMID:37652022|PMID:37904629|PMID:37936624|PMID:9536098|PMID:9887343
8833242	Dsp	desmoplakin	gene	DOID:0081109	keratosis palmoplantaris striata 2		ISO	RGD:1314043	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS STRIATA II | ClinVar Annotator: match by term: Keratosis palmoplantaris striata 2 | ClinVar Annotator: match by term: Keratosis palmoplantaris striata II	PMID:11063735|PMID:12101406|PMID:12802069|PMID:17576681|PMID:20400443|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21636032|PMID:21756917|PMID:22454510|PMID:23651034|PMID:23861362|PMID:23891292|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25741868|PMID:25825460|PMID:25979592|PMID:26099957|PMID:26187847|PMID:26220970|PMID:26272908|PMID:26399581|PMID:26585738|PMID:26604139|PMID:26833927|PMID:26846766|PMID:27532257|PMID:27698334|PMID:27930701|PMID:28255936|PMID:28341588|PMID:28361054|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28790152|PMID:29062697|PMID:29095814|PMID:29386531|PMID:29606362|PMID:29802319|PMID:29885824|PMID:30398466|PMID:30615648|PMID:30731207|PMID:30775854|PMID:30847666|PMID:31114860|PMID:31118017|PMID:31514951|PMID:31534214|PMID:31770195|PMID:31983221|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:33082984|PMID:33313835|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33874732|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35026164|PMID:35087879|PMID:35444050|PMID:36008935|PMID:36768812|PMID:37198425|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37702310|PMID:37904629|PMID:38895864|PMID:39288222|PMID:9536098|PMID:9887343
8833242	Dsp	desmoplakin	gene	DOID:0090128	Carvajal syndrome		ISO	RGD:1314043	D	RGD:7240710	20180130	OMIM			
8833242	Dsp	desmoplakin	gene	DOID:0090128	Carvajal syndrome		ISO	RGD:1314043	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA | ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair	PMID:11063735|PMID:11841538|PMID:12101406|PMID:12802069|PMID:15210133|PMID:15941723|PMID:16199547|PMID:16467215|PMID:17576681|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20738328|PMID:20857253|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21756917|PMID:2185974|PMID:21859740|PMID:22216297|PMID:22240500|PMID:22555271|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24503780|PMID:24704780|PMID:24901346|PMID:24967631|PMID:25163546|PMID:25196244|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25616645|PMID:25661095|PMID:25693453|PMID:25741868|PMID:25820315|PMID:26073755|PMID:26084686|PMID:26099957|PMID:26187847|PMID:26230511|PMID:26265630|PMID:26383259|PMID:26399581|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26833927|PMID:26846766|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27332903|PMID:27374306|PMID:27413182|PMID:27532257|PMID:27707468|PMID:27930701|PMID:28152038|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28784889|PMID:28790152|PMID:28798025|PMID:29016939|PMID:29062697|PMID:29178656|PMID:29334134|PMID:29420653|PMID:29447731|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29878302|PMID:29892087|PMID:29915097|PMID:29956481|PMID:30011071|PMID:30133754|PMID:30160835|PMID:30354300|PMID:30354334|PMID:30398466|PMID:30615648|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30821013|PMID:30847666|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31024045|PMID:31028937|PMID:31118017|PMID:31131953|PMID:31194698|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31770195|PMID:31983221|PMID:32005173|PMID:32233023|PMID:32372669|PMID:32593191|PMID:32659924|PMID:32746448|PMID:32808748|PMID:32826072|PMID:32878047|PMID:32880476|PMID:32931854|PMID:32969603|PMID:33029862|PMID:33079602|PMID:33232181|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33684294|PMID:33821670|PMID:33874732|PMID:33954932|PMID:34026522|PMID:34137518|PMID:34194005|PMID:34317553|PMID:34352074|PMID:34368507|PMID:34486814|PMID:34640625|PMID:34930020|PMID:34946881|PMID:35008956|PMID:35083019|PMID:35151254|PMID:35438637|PMID:35444050|PMID:35474678|PMID:35653365|PMID:35766183|PMID:35947370|PMID:36264615|PMID:36291626|PMID:36431211|PMID:36580316|PMID:36768812|PMID:36788754|PMID:37198425|PMID:37418234|PMID:37461109|PMID:37589201|PMID:37652022|PMID:37702310|PMID:37904629|PMID:38254962|PMID:38383124|PMID:38691546|PMID:38938828|PMID:39288222|PMID:39472908|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0110070	arrhythmogenic right ventricular dysplasia 1		ISO	RGD:1314043	D	RGD:8554872	20250415	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:0110076	arrhythmogenic right ventricular dysplasia 8		ISO	RGD:1314043	D	RGD:7240710	20180130	OMIM			
8833242	Dsp	desmoplakin	gene	DOID:0110076	arrhythmogenic right ventricular dysplasia 8		ISO	RGD:1314043	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 8 | ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8	PMID:10594734|PMID:11063735|PMID:11841538|PMID:12101406|PMID:12373648|PMID:12802069|PMID:15210133|PMID:15941723|PMID:16061754|PMID:16175511|PMID:16199547|PMID:16467215|PMID:16917092|PMID:17576681|PMID:17934502|PMID:19095136|PMID:19763152|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20152563|PMID:20307669|PMID:20400443|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20857253|PMID:20864495|PMID:20940358|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:2185974|PMID:21859740|PMID:22216297|PMID:22240500|PMID:22406018|PMID:22555271|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23891292|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24901346|PMID:24938629|PMID:24967631|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25403600|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25616645|PMID:25661095|PMID:25693453|PMID:25733715|PMID:25741868|PMID:25741904|PMID:25765472|PMID:25820315|PMID:25825460|PMID:25979592|PMID:26073755|PMID:26084686|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26303123|PMID:26314686|PMID:26383259|PMID:26399581|PMID:26545710|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26656175|PMID:26688388|PMID:26735901|PMID:26743238|PMID:26833927|PMID:26846766|PMID:26850880|PMID:26899768|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27332903|PMID:27374306|PMID:27413182|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27831900|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28152038|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28361054|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28750076|PMID:28767663|PMID:28784889|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29095814|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29517769|PMID:29555771|PMID:29606362|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29884292|PMID:29885824|PMID:29892087|PMID:29915097|PMID:29956481|PMID:29961767|PMID:30086531|PMID:30122538|PMID:30133754|PMID:30160835|PMID:30286183|PMID:30345701|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30403391|PMID:30453078|PMID:30615648|PMID:30670673|PMID:30699244|PMID:30700137|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30821013|PMID:30847666|PMID:30975432|PMID:30993396|PMID:31024045|PMID:31028357|PMID:31028937|PMID:31064352|PMID:31073624|PMID:31114860|PMID:31118017|PMID:31131953|PMID:31194698|PMID:31195250|PMID:31251381|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31770195|PMID:31983221|PMID:32005173|PMID:32041989|PMID:32164419|PMID:32233023|PMID:32268277|PMID:32356610|PMID:32372669|PMID:32522011|PMID:32546831|PMID:32592540|PMID:32593191|PMID:32659924|PMID:32746448|PMID:32808748|PMID:32826072|PMID:32878047|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32969603|PMID:33029862|PMID:33079602|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33652732|PMID:33684294|PMID:33821670|PMID:33874732|PMID:33954932|PMID:33996946|PMID:34011823|PMID:34026522|PMID:34137518|PMID:34194005|PMID:34287473|PMID:34317553|PMID:34352074|PMID:34368507|PMID:34486814|PMID:34640625|PMID:34815391|PMID:34930020|PMID:34946881|PMID:34949102|PMID:35008956|PMID:35026164|PMID:35083019|PMID:35087879|PMID:35146008|PMID:35151254|PMID:35348702|PMID:35352813|PMID:35438637|PMID:35444050|PMID:35470680|PMID:35474678|PMID:35653365|PMID:35766183|PMID:35819174|PMID:35947370|PMID:36008935|PMID:36043215|PMID:36136372
8833242	Dsp	desmoplakin	gene	DOID:0110076	arrhythmogenic right ventricular dysplasia 8		ISO	RGD:1314043	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 8 | ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8	PMID:36175056|PMID:36264615|PMID:36291626|PMID:36396199|PMID:36431211|PMID:36580316|PMID:36693943|PMID:36768812|PMID:36788754|PMID:36939041|PMID:37048743|PMID:37198425|PMID:37361972|PMID:37418234|PMID:37461109|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37702310|PMID:37904629|PMID:38254962|PMID:38383124|PMID:38414301|PMID:38489124|PMID:38540378|PMID:38691546|PMID:38757491|PMID:38895864|PMID:38938828|PMID:39288222|PMID:39472908|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:0110077	arrhythmogenic right ventricular dysplasia 9		ISO	RGD:1314043	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9	PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:25820315|PMID:28492532|PMID:30345701|PMID:30700137
8833242	Dsp	desmoplakin	gene	DOID:0110077	arrhythmogenic right ventricular dysplasia 9		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9	PMID:25741868
8833242	Dsp	desmoplakin	gene	DOID:0110218	Brugada syndrome 1		ISO	RGD:1314043	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome	PMID:25351510|PMID:25741868|PMID:28492532|PMID:31568572|PMID:31983221
8833242	Dsp	desmoplakin	gene	DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J		ISO	RGD:1314043	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10	PMID:24033266|PMID:25741868|PMID:27854218|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314043	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:31264976
8833242	Dsp	desmoplakin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314043	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:31264976|PMID:31402444
8833242	Dsp	desmoplakin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314043	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:30847666|PMID:31264976|PMID:31402444
8833242	Dsp	desmoplakin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314043	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:30847666|PMID:31264976|PMID:31402444|PMID:31983221
8833242	Dsp	desmoplakin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314043	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:30847666|PMID:31402444|PMID:31983221|PMID:37418234
8833242	Dsp	desmoplakin	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1314043	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	PMID:20716751|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25741868|PMID:26084686|PMID:26265630|PMID:28492532|PMID:29062697|PMID:29178656|PMID:29633331|PMID:30382575|PMID:30615648|PMID:30775854|PMID:33996946
8833242	Dsp	desmoplakin	gene	DOID:0110430	dilated cardiomyopathy 1G		ISO	RGD:1314043	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1G	PMID:25741868|PMID:27532257|PMID:29062697
8833242	Dsp	desmoplakin	gene	DOID:0110454	dilated cardiomyopathy 1S		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1S	
8833242	Dsp	desmoplakin	gene	DOID:0111073	progressive familial heart block		ISO	RGD:1314043	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Progressive familial heart block	PMID:25741868
8833242	Dsp	desmoplakin	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:10534	stomach cancer		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:20716751|PMID:24503780|PMID:25227139|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:10969	hemiplegia		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiplegia	PMID:21606396|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26230511|PMID:26656175|PMID:27153395|PMID:28492532|PMID:30821013|PMID:32746448
8833242	Dsp	desmoplakin	gene	DOID:1115	sarcoma		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8833242	Dsp	desmoplakin	gene	DOID:11155	hypohidrosis		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:25741868|PMID:26148547|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:11156	anhidrosis		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anhidrosis	PMID:25741868|PMID:26148547|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:11830	myopia		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:27532257|PMID:28492532|PMID:28527814
8833242	Dsp	desmoplakin	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:23861362|PMID:24033266|PMID:24125834|PMID:25741868|PMID:26846766|PMID:27930701|PMID:28492532|PMID:29062697|PMID:29255176|PMID:35470680
8833242	Dsp	desmoplakin	gene	DOID:12176	goiter		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:16061754|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28416588|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30820396|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31568572|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:16061754|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28416588|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30820396|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30820396|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31983221|PMID:32942234|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30398466|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32942234|PMID:34137518|PMID:34290054|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26084686|PMID:26230511|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32659924|PMID:33762593|PMID:34137518|PMID:34290054|PMID:34317553|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26084686|PMID:26230511|PMID:26265630|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32942234|PMID:33087929|PMID:33762593|PMID:34137518|PMID:34290054|PMID:34317553|PMID:35581137|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26084686|PMID:26230511|PMID:26265630|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29178656|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32942234|PMID:33087929|PMID:33762593|PMID:33996946|PMID:34137518|PMID:34290054|PMID:34317553|PMID:34815391|PMID:35581137|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26084686|PMID:26230511|PMID:26265630|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29178656|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32942234|PMID:33079602|PMID:33087929|PMID:33762593|PMID:33996946|PMID:34137518|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35581137|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:16199547|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21264154|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:25936878|PMID:26073755|PMID:26084686|PMID:26230511|PMID:26265630|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29178656|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32826072|PMID:32880476|PMID:32942234|PMID:33079602|PMID:33087929|PMID:33762593|PMID:33996946|PMID:34026522|PMID:34137518|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35083019|PMID:35151254|PMID:35581137|PMID:36768812|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:16199547|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21264154|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:25936878|PMID:26073755|PMID:26230511|PMID:26265630|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29178656|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32826072|PMID:32880476|PMID:32942234|PMID:33079602|PMID:33087929|PMID:33762593|PMID:33996946|PMID:34026522|PMID:34137518|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35083019|PMID:35151254|PMID:35581137|PMID:36768812|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:12101406|PMID:12802069|PMID:16199547|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20129281|PMID:20400443|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21264154|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:25936878|PMID:26073755|PMID:26138720|PMID:26230511|PMID:26265630|PMID:26383259|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29062697|PMID:29178656|PMID:29633331|PMID:29915097|PMID:29915098|PMID:30012837|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31251381|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32826072|PMID:32880476|PMID:32942234|PMID:33079602|PMID:33762593|PMID:33996946|PMID:34026522|PMID:34137518|PMID:34194005|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35083019|PMID:35151254|PMID:35581137|PMID:36580316|PMID:36768812|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:12101406|PMID:12802069|PMID:16199547|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20129281|PMID:20400443|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21264154|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:25936878|PMID:26073755|PMID:26138720|PMID:26230511|PMID:26265630|PMID:26383259|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29062697|PMID:29178656|PMID:29633331|PMID:29915097|PMID:29915098|PMID:30012837|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31251381|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32826072|PMID:32880476|PMID:32942234|PMID:33079602|PMID:33762593|PMID:33996946|PMID:34026522|PMID:34135346|PMID:34137518|PMID:34194005|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35083019|PMID:35151254|PMID:35581137|PMID:36138163|PMID:36431211|PMID:36580316|PMID:36768812|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:12101406|PMID:12802069|PMID:16199547|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20129281|PMID:20400443|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21264154|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:25936878|PMID:26073755|PMID:26138720|PMID:26230511|PMID:26265630|PMID:26383259|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29062697|PMID:29178656|PMID:29633331|PMID:29915097|PMID:29915098|PMID:30012837|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31251381|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32826072|PMID:32880476|PMID:32942234|PMID:33079602|PMID:33762593|PMID:33996946|PMID:34026522|PMID:34135346|PMID:34137518|PMID:34194005|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35083019|PMID:35151254|PMID:35581137|PMID:36138163|PMID:36431211|PMID:36580316|PMID:36768812|PMID:38510230|PMID:38938828|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:12101406|PMID:12802069|PMID:16199547|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20129281|PMID:20400443|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21264154|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:25936878|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26230511|PMID:26265630|PMID:26383259|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29062697|PMID:29178656|PMID:29633331|PMID:29915097|PMID:29915098|PMID:30012837|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31251381|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32826072|PMID:32880476|PMID:32942234|PMID:33079602|PMID:33762593|PMID:33996946|PMID:34026522|PMID:34135346|PMID:34137518|PMID:34194005|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35083019|PMID:35151254|PMID:35581137|PMID:36138163|PMID:36431211|PMID:36580316|PMID:36768812|PMID:38510230|PMID:38938828|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250415	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:12101406|PMID:12802069|PMID:16175511|PMID:16199547|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:17934502|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20129281|PMID:20400443|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21264154|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:25936878|PMID:26073755|PMID:26138720|PMID:26230511|PMID:26383259|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29062697|PMID:29178656|PMID:29633331|PMID:29915097|PMID:29915098|PMID:30012837|PMID:30382575|PMID:30398466|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30919684|PMID:30993396|PMID:31110529|PMID:31251381|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32826072|PMID:32880476|PMID:32942234|PMID:33079602|PMID:33762593|PMID:33996946|PMID:34026522|PMID:34135346|PMID:34137518|PMID:34194005|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35083019|PMID:35151254|PMID:35581137|PMID:36138163|PMID:36431211|PMID:36580316|PMID:36768812|PMID:37450050|PMID:38510230|PMID:38938828|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:12101406|PMID:12802069|PMID:16175511|PMID:16199547|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:17934502|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20129281|PMID:20400443|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:25936878|PMID:26073755|PMID:26138720|PMID:26230511|PMID:26383259|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29062697|PMID:29178656|PMID:29633331|PMID:29915097|PMID:29915098|PMID:30012837|PMID:30382575|PMID:30398466|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30919684|PMID:30993396|PMID:31110529|PMID:31251381|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32826072|PMID:32880476|PMID:32942234|PMID:33079602|PMID:33762593|PMID:33874732|PMID:33996946|PMID:34026522|PMID:34135346|PMID:34137518|PMID:34194005|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35083019|PMID:35151254|PMID:35581137|PMID:36138163|PMID:36431211|PMID:36580316|PMID:36768812|PMID:37450050|PMID:38510230|PMID:38938828|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:12101406|PMID:12802069|PMID:16175511|PMID:16199547|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:17934502|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20129281|PMID:20400443|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:25936878|PMID:26073755|PMID:26138720|PMID:26230511|PMID:26383259|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29062697|PMID:29178656|PMID:29633331|PMID:29915097|PMID:29915098|PMID:30012837|PMID:30382575|PMID:30398466|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30919684|PMID:30993396|PMID:31110529|PMID:31251381|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32826072|PMID:32880476|PMID:32942234|PMID:33079602|PMID:33762593|PMID:33874732|PMID:33996946|PMID:34026522|PMID:34135346|PMID:34137518|PMID:34194005|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35083019|PMID:35151254|PMID:35581137|PMID:36138163|PMID:36431211|PMID:36580316|PMID:36768812|PMID:37450050|PMID:38510230|PMID:38938828|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: Dilated CardioMyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11063735|PMID:12101406|PMID:12802069|PMID:15941723|PMID:16199547|PMID:16467215|PMID:16917092|PMID:20152563|PMID:20716751|PMID:20864495|PMID:21606396|PMID:21756917|PMID:23292937|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24503780|PMID:25227139|PMID:25351510|PMID:25616645|PMID:25661095|PMID:25741868|PMID:25936878|PMID:26073755|PMID:26138720|PMID:26230511|PMID:26383259|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28790152|PMID:29062697|PMID:29633331|PMID:29915097|PMID:30012837|PMID:30382575|PMID:30398466|PMID:30775854|PMID:30820396|PMID:30821013|PMID:30847666|PMID:30975432|PMID:30993396|PMID:31028937|PMID:31251381|PMID:31317183|PMID:31319917|PMID:31386562|PMID:31402444|PMID:31514951|PMID:31737537|PMID:3198322|PMID:31983221|PMID:32372669|PMID:32659924|PMID:32746448|PMID:32880476|PMID:33079602|PMID:33232181|PMID:33874732|PMID:33954932|PMID:34137518|PMID:34194005|PMID:34317553|PMID:34352074|PMID:35083019|PMID:35151254|PMID:36252119|PMID:36580316|PMID:36768812|PMID:37418234|PMID:38510230|PMID:38938828
8833242	Dsp	desmoplakin	gene	DOID:1324	lung cancer		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8833242	Dsp	desmoplakin	gene	DOID:1596	depressive disorder		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:1697	ichthyosis		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis	PMID:25741868|PMID:26148547|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:1909	melanoma		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16199547|PMID:20716751|PMID:24503780|PMID:25227139|PMID:28492532|PMID:33460606
8833242	Dsp	desmoplakin	gene	DOID:1969	cerebral palsy		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:2030	anxiety disorder		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia	PMID:25741868|PMID:26148547|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8833242	Dsp	desmoplakin	gene	DOID:2841	asthma		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:2843	long QT syndrome		ISO	RGD:1314043	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:16467215|PMID:16774985|PMID:17576681|PMID:18382419|PMID:19863551|PMID:20716751|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21723241|PMID:21859740|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25741868|PMID:27097650|PMID:28074886|PMID:28416588|PMID:28492532|PMID:28759816|PMID:30993396|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:2843	long QT syndrome		ISO	RGD:1314043	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:16467215|PMID:16774985|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19863551|PMID:19924139|PMID:20525856|PMID:20716751|PMID:20738328|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25693453|PMID:25741868|PMID:26230511|PMID:26585738|PMID:26656175|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28759816|PMID:29511324|PMID:30354334|PMID:30398466|PMID:30847666|PMID:30993396|PMID:31402444|PMID:31514951|PMID:31737537|PMID:32277046|PMID:32372669|PMID:34033898|PMID:34290054|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:2843	long QT syndrome		ISO	RGD:1314043	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:16467215|PMID:16774985|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19863551|PMID:19924139|PMID:20525856|PMID:20716751|PMID:20738328|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25693453|PMID:25741868|PMID:26230511|PMID:26585738|PMID:26656175|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28759816|PMID:29511324|PMID:30354334|PMID:30398466|PMID:30847666|PMID:30993396|PMID:31402444|PMID:31514951|PMID:31737537|PMID:32277046|PMID:32372669|PMID:32826072|PMID:34026522|PMID:34033898|PMID:34290054|PMID:35083019|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:2843	long QT syndrome		ISO	RGD:1314043	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:16467215|PMID:16774985|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19863551|PMID:19924139|PMID:20524011|PMID:20525856|PMID:20716751|PMID:20738328|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25693453|PMID:25741868|PMID:26230511|PMID:26383259|PMID:26585738|PMID:26656175|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28759816|PMID:29062697|PMID:29511324|PMID:29915097|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30847666|PMID:30993396|PMID:31402444|PMID:31514951|PMID:31737537|PMID:32277046|PMID:32372669|PMID:32826072|PMID:34026522|PMID:34033898|PMID:34290054|PMID:35083019|PMID:35352813|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:2843	long QT syndrome		ISO	RGD:1314043	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:16467215|PMID:16774985|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19863551|PMID:19924139|PMID:20524011|PMID:20525856|PMID:20716751|PMID:20738328|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25693453|PMID:25741868|PMID:26230511|PMID:26383259|PMID:26585738|PMID:26656175|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28759816|PMID:29062697|PMID:29511324|PMID:29915097|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30847666|PMID:30993396|PMID:31402444|PMID:31514951|PMID:31737537|PMID:32277046|PMID:32372669|PMID:32826072|PMID:34026522|PMID:34033898|PMID:34290054|PMID:35083019|PMID:35352813|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:2843	long QT syndrome		ISO	RGD:1314043	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:18632414|PMID:19924139|PMID:20738328|PMID:21606396|PMID:23292937|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25693453|PMID:25741868|PMID:26230511|PMID:26585738|PMID:26656175|PMID:26846766|PMID:27153395|PMID:28492532|PMID:30354334|PMID:30821013|PMID:32746448
8833242	Dsp	desmoplakin	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1314043	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:28166215
8833242	Dsp	desmoplakin	gene	DOID:3390	palmoplantar keratosis		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Palmoplantar keratoderma | ClinVar Annotator: match by term: Palmoplantar keratodermas	PMID:11841538|PMID:20738328|PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1314043	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28166215
8833242	Dsp	desmoplakin	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1314043	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:25741868|PMID:28492532|PMID:32233023
8833242	Dsp	desmoplakin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8833242	Dsp	desmoplakin	gene	DOID:397	restrictive cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy	PMID:24033266|PMID:25351510|PMID:25741868|PMID:26383259|PMID:26743238|PMID:28492532|PMID:28790152|PMID:31333075|PMID:31568572
8833242	Dsp	desmoplakin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8833242	Dsp	desmoplakin	gene	DOID:4362	cervical cancer		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:5041	esophageal cancer		ISO	RGD:1314043	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8833242	Dsp	desmoplakin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16199547|PMID:20716751|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:29892087|PMID:31131953|PMID:31447099|PMID:31589614|PMID:33684294|PMID:36264615
8833242	Dsp	desmoplakin	gene	DOID:6364	migraine		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine Disorders	PMID:21606396|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26230511|PMID:26656175|PMID:27153395|PMID:28492532|PMID:30821013|PMID:32746448
8833242	Dsp	desmoplakin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8833242	Dsp	desmoplakin	gene	DOID:7998	hyperthyroidism		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:27532257|PMID:28492532|PMID:28527814
8833242	Dsp	desmoplakin	gene	DOID:820	myocarditis		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myocarditis	PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:34213952
8833242	Dsp	desmoplakin	gene	DOID:850	lung disease		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:25741868
8833242	Dsp	desmoplakin	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1314043	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arrhythmia | ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:16917092|PMID:20400443|PMID:20716751|PMID:21606390|PMID:21859740|PMID:22555271|PMID:23137101|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25525159|PMID:25741868|PMID:27532257|PMID:28471438|PMID:28492532|PMID:30398466|PMID:31402444|PMID:33821670|PMID:35653365|PMID:35766183|PMID:38938828
8833242	Dsp	desmoplakin	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:24033266|PMID:25693453|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31983221|PMID:33500567
8833242	Dsp	desmoplakin	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:9001733	Tinnitus		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:9002630	Epidermolysis Bullosa, Lethal Acantholytic		ISO	RGD:1314043	D	RGD:7240710	20180130	OMIM			
8833242	Dsp	desmoplakin	gene	DOID:9002630	Epidermolysis Bullosa, Lethal Acantholytic		ISO	RGD:1314043	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC | ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa	PMID:11063735|PMID:12101406|PMID:12802069|PMID:15210133|PMID:17576681|PMID:20400443|PMID:20613772|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21756917|PMID:21859740|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23861362|PMID:23891292|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25196244|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25616645|PMID:25661095|PMID:25741868|PMID:25820315|PMID:25979592|PMID:26073755|PMID:26099957|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26383259|PMID:26399581|PMID:26585738|PMID:26604139|PMID:26656175|PMID:26743238|PMID:26833927|PMID:26846766|PMID:27135274|PMID:27153395|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27930701|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28361054|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28790152|PMID:29062697|PMID:29095814|PMID:29386531|PMID:29606362|PMID:29618732|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29885824|PMID:30398466|PMID:30615648|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31028937|PMID:31114860|PMID:31118017|PMID:31333075|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31770195|PMID:31983221|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33874732|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35026164|PMID:35087879|PMID:35444050|PMID:36008935|PMID:36768812|PMID:37198425|PMID:37589201|PMID:37652022|PMID:37702310|PMID:37904629|PMID:38895864|PMID:39288222|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:9003539	Hyperacusis		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:9003674	Chest Pain		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chest pain	PMID:20400443|PMID:20716751|PMID:21606390|PMID:21859740|PMID:22555271|PMID:23137101|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:30398466|PMID:31402444|PMID:33821670|PMID:35653365|PMID:35766183
8833242	Dsp	desmoplakin	gene	DOID:9004026	Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis		ISO	RGD:1314043	D	RGD:7240710	20180130	OMIM			
8833242	Dsp	desmoplakin	gene	DOID:9004026	Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis		ISO	RGD:1314043	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS | ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	PMID:11063735|PMID:12101406|PMID:12802069|PMID:17576681|PMID:20400443|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21636032|PMID:21756917|PMID:22795705|PMID:22949226|PMID:23651034|PMID:23861362|PMID:23891292|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25741868|PMID:25979592|PMID:26099957|PMID:26187847|PMID:26220970|PMID:26272908|PMID:26399581|PMID:26585738|PMID:26604139|PMID:26833927|PMID:26846766|PMID:27532257|PMID:27698334|PMID:27930701|PMID:28255936|PMID:28341588|PMID:28361054|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28790152|PMID:29062697|PMID:29095814|PMID:29386531|PMID:29606362|PMID:29802319|PMID:29885824|PMID:30398466|PMID:30615648|PMID:30731207|PMID:30775854|PMID:30847666|PMID:31064352|PMID:31114860|PMID:31118017|PMID:31514951|PMID:31534214|PMID:31770195|PMID:31983221|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:33082984|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33652588|PMID:33684294|PMID:33874732|PMID:34317553|PMID:34352074|PMID:34766015|PMID:34815391|PMID:35026164|PMID:35087879|PMID:35444050|PMID:36008935|PMID:36768812|PMID:37198425|PMID:37589201|PMID:37652022|PMID:37702310|PMID:37904629|PMID:38895864|PMID:39288222|PMID:9536098
8833242	Dsp	desmoplakin	gene	DOID:9004416	Paroxysmal Ventricular Fibrillation		ISO	RGD:1314043	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Idiopathic ventricular fibrillation | ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:9005077	Joint Instability		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:1314043	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:23396983|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:25741868|PMID:26846766|PMID:28492532|PMID:29062697|PMID:31402444|PMID:31638414|PMID:37418234
8833242	Dsp	desmoplakin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1314043	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
8833242	Dsp	desmoplakin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532|PMID:37702310
8833242	Dsp	desmoplakin	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:9007380	Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE		ISO	RGD:1314043	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:9007736	Vertigo		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:9007820	Sudden Death		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death	PMID:25741868|PMID:27332903|PMID:28492532|PMID:30847666
8833242	Dsp	desmoplakin	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sudden cardiac death	PMID:20716751|PMID:20864495|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:35008956
8833242	Dsp	desmoplakin	gene	DOID:9008023	Memory Disorders		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314043	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:25741904|PMID:28527814|PMID:31028357
8833242	Dsp	desmoplakin	gene	DOID:9008421	Epistaxis		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:9651	systolic heart failure		ISO	RGD:1314043	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Systolic heart failure	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
8833242	Dsp	desmoplakin	gene	DOID:9834	hyperopia		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:27532257|PMID:28492532|PMID:28527814
8833242	Dsp	desmoplakin	gene	DOID:987	alopecia		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alopecia	PMID:25741868
8833242	Dsp	desmoplakin	gene	DOID:9970	obesity		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:27532257|PMID:28492532|PMID:28527814
8833280	Eny2	ENY2 transcription and export complex 2 subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8833280	Eny2	ENY2 transcription and export complex 2 subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8833280	Eny2	ENY2 transcription and export complex 2 subunit	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8833280	Eny2	ENY2 transcription and export complex 2 subunit	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8833280	Eny2	ENY2 transcription and export complex 2 subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833280	Eny2	ENY2 transcription and export complex 2 subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8833280	Eny2	ENY2 transcription and export complex 2 subunit	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1601985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8833280	Eny2	ENY2 transcription and export complex 2 subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8833280	Eny2	ENY2 transcription and export complex 2 subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833280	Eny2	ENY2 transcription and export complex 2 subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8833306	Znhit6	zinc finger HIT-type containing 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8833306	Znhit6	zinc finger HIT-type containing 6	gene	DOID:10534	stomach cancer		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8833306	Znhit6	zinc finger HIT-type containing 6	gene	DOID:1324	lung cancer		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8833306	Znhit6	zinc finger HIT-type containing 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8833306	Znhit6	zinc finger HIT-type containing 6	gene	DOID:4362	cervical cancer		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833306	Znhit6	zinc finger HIT-type containing 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8833306	Znhit6	zinc finger HIT-type containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1607024	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8833306	Znhit6	zinc finger HIT-type containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833306	Znhit6	zinc finger HIT-type containing 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8833306	Znhit6	zinc finger HIT-type containing 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833306	Znhit6	zinc finger HIT-type containing 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8833325	Hsbp1	heat shock factor binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:736685	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8833325	Hsbp1	heat shock factor binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833333	Hes7	hes family bHLH transcription factor 7	gene	DOID:0112364	spondylocostal dysostosis 4		ISO	RGD:1314231	D	RGD:7240710	20180130	OMIM			
8833333	Hes7	hes family bHLH transcription factor 7	gene	DOID:0112364	spondylocostal dysostosis 4		ISO	RGD:1314231	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HES7-related condition | ClinVar Annotator: match by term: SPONDYLOCOSTAL DYSOSTOSIS 4 | ClinVar Annotator: match by term: Spondylocostal dysostosis 4, autosomal recessive	PMID:20087400|PMID:23897666|PMID:25741868|PMID:28492532
8833333	Hes7	hes family bHLH transcription factor 7	gene	DOID:630	genetic disease		ISO	RGD:1314231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8833333	Hes7	hes family bHLH transcription factor 7	gene	DOID:9006006	Spondylocostal Dysostosis, Autosomal Recessive		ISO	RGD:12315095	D	RGD:9068941	20230824	OMIA		Spondylocostal dysostosis, autosomal recessive	PMID:25659135|PMID:37582787
8833333	Hes7	hes family bHLH transcription factor 7	gene	DOID:9006006	Spondylocostal Dysostosis, Autosomal Recessive		ISO	RGD:1314231	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8833333	Hes7	hes family bHLH transcription factor 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8833346	Pcgf1	polycomb group ring finger 1	gene	DOID:1115	sarcoma		ISO	RGD:1349943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8833346	Pcgf1	polycomb group ring finger 1	gene	DOID:1324	lung cancer		ISO	RGD:1349943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8833346	Pcgf1	polycomb group ring finger 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833346	Pcgf1	polycomb group ring finger 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8833346	Pcgf1	polycomb group ring finger 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833346	Pcgf1	polycomb group ring finger 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833359	Rgs17	regulator of G protein signaling 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833359	Rgs17	regulator of G protein signaling 17	gene	DOID:670	amphetamine abuse		ISO	RGD:1313587	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
8833359	Rgs17	regulator of G protein signaling 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833379	Sema3f	semaphorin 3F	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8833379	Sema3f	semaphorin 3F	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1318327	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia	PMID:25741868
8833379	Sema3f	semaphorin 3F	gene	DOID:10534	stomach cancer		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8833379	Sema3f	semaphorin 3F	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8833379	Sema3f	semaphorin 3F	gene	DOID:1115	sarcoma		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8833379	Sema3f	semaphorin 3F	gene	DOID:1909	melanoma		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8833379	Sema3f	semaphorin 3F	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:1318327	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868
8833379	Sema3f	semaphorin 3F	gene	DOID:2394	ovarian cancer		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8833379	Sema3f	semaphorin 3F	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8833379	Sema3f	semaphorin 3F	gene	DOID:4362	cervical cancer		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833379	Sema3f	semaphorin 3F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833379	Sema3f	semaphorin 3F	gene	DOID:9004538	Hearing Loss		ISO	RGD:1318327	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:30311386
8833379	Sema3f	semaphorin 3F	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833379	Sema3f	semaphorin 3F	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1318327	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21933904
8833379	Sema3f	semaphorin 3F	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8833379	Sema3f	semaphorin 3F	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8833408	Chst7	carbohydrate sulfotransferase 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8833408	Chst7	carbohydrate sulfotransferase 7	gene	DOID:1324	lung cancer		ISO	RGD:1344494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8833408	Chst7	carbohydrate sulfotransferase 7	gene	DOID:1909	melanoma		ISO	RGD:1344494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8833408	Chst7	carbohydrate sulfotransferase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1344494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833408	Chst7	carbohydrate sulfotransferase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833427	Vps72	vacuolar protein sorting 72 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8833427	Vps72	vacuolar protein sorting 72 homolog	gene	DOID:3275	thymoma		ISO	RGD:1314551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8833427	Vps72	vacuolar protein sorting 72 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1314551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833427	Vps72	vacuolar protein sorting 72 homolog	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8833427	Vps72	vacuolar protein sorting 72 homolog	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1314551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8833427	Vps72	vacuolar protein sorting 72 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833427	Vps72	vacuolar protein sorting 72 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8833427	Vps72	vacuolar protein sorting 72 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8833427	Vps72	vacuolar protein sorting 72 homolog	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1314551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8833427	Vps72	vacuolar protein sorting 72 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833427	Vps72	vacuolar protein sorting 72 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8833442	Bach1	BTB domain and CNC homolog 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8833442	Bach1	BTB domain and CNC homolog 1	gene	DOID:1115	sarcoma		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8833442	Bach1	BTB domain and CNC homolog 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8833442	Bach1	BTB domain and CNC homolog 1	gene	DOID:3275	thymoma		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8833442	Bach1	BTB domain and CNC homolog 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315457	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8833442	Bach1	BTB domain and CNC homolog 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833442	Bach1	BTB domain and CNC homolog 1	gene	DOID:9000784	Fibrosis		ISO	RGD:1315457	D	RGD:9068941	20250403	CTD		CTD Direct Evidence: therapeutic	PMID:38573338
8833442	Bach1	BTB domain and CNC homolog 1	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:1315457	D	RGD:9068941	20250403	CTD		CTD Direct Evidence: therapeutic	PMID:38573338
8833442	Bach1	BTB domain and CNC homolog 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8833442	Bach1	BTB domain and CNC homolog 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833442	Bach1	BTB domain and CNC homolog 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8833442	Bach1	BTB domain and CNC homolog 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8833451	S100pbp	S100P binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8833451	S100pbp	S100P binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8833451	S100pbp	S100P binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1604319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8833451	S100pbp	S100P binding protein	gene	DOID:1909	melanoma		ISO	RGD:1604319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8833451	S100pbp	S100P binding protein	gene	DOID:3275	thymoma		ISO	RGD:1604319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8833451	S100pbp	S100P binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1604319	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8833451	S100pbp	S100P binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833482	Sstr3	somatostatin receptor 3	gene	DOID:169	neuroendocrine tumor		ISO	RGD:1343520	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17625444
8833482	Sstr3	somatostatin receptor 3	gene	DOID:1793	pancreatic cancer		ISO	RGD:1343520	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17625444
8833482	Sstr3	somatostatin receptor 3	gene	DOID:1824	status epilepticus		ISO	RGD:1343520	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18951627
8833482	Sstr3	somatostatin receptor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833482	Sstr3	somatostatin receptor 3	gene	DOID:9000998	Brain Injuries		ISO	RGD:620308	D	RGD:9068941	20200609	RGD			PMID:11879809|REF_RGD_ID:2325002
8833482	Sstr3	somatostatin receptor 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620308	D	RGD:9068941	20200609	RGD			PMID:7956902|REF_RGD_ID:2325008
8833508	Sytl1	synaptotagmin like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8833508	Sytl1	synaptotagmin like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8833508	Sytl1	synaptotagmin like 1	gene	DOID:1115	sarcoma		ISO	RGD:1321784	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8833508	Sytl1	synaptotagmin like 1	gene	DOID:1324	lung cancer		ISO	RGD:1321784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8833508	Sytl1	synaptotagmin like 1	gene	DOID:1909	melanoma		ISO	RGD:1321784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8833508	Sytl1	synaptotagmin like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833508	Sytl1	synaptotagmin like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321784	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8833508	Sytl1	synaptotagmin like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833508	Sytl1	synaptotagmin like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833508	Sytl1	synaptotagmin like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1321587	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:25741868|PMID:30303587
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0080261	autosomal recessive nonsyndromic deafness 106		ISO	RGD:1321587	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 106	PMID:25741868|PMID:28492532
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0080600	COVID-19		ISO	RGD:1321587	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0110463	autosomal recessive nonsyndromic deafness 102		ISO	RGD:1321587	D	RGD:7240710	20180130	OMIM			
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0110463	autosomal recessive nonsyndromic deafness 102		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 102 | ClinVar Annotator: match by term: EPS8-related condition	PMID:24033266|PMID:25741868|PMID:28492532
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:10534	stomach cancer		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:24033266|PMID:25741868|PMID:28492532
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:1115	sarcoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:11400	pyelonephritis		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pyelonephritis	
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:3275	thymoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:4362	cervical cancer		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:5041	esophageal cancer		ISO	RGD:1321587	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321587	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:30303587
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:630	genetic disease		ISO	RGD:1321587	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28492532
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1321587	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9003507	Premature Birth		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9004538	Hearing Loss		ISO	RGD:1321587	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:25741868|PMID:30303587
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1321587	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19799886
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:24033266|PMID:25741868|PMID:28492532
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9008681	Deafness		ISO	RGD:1321587	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:25741868|PMID:30303587
8833527	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9256	colorectal cancer		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8833558	Atp6v1f	ATPase H+ transporting V1 subunit F	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8833558	Atp6v1f	ATPase H+ transporting V1 subunit F	gene	DOID:0080600	COVID-19		ISO	RGD:1351850	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8833558	Atp6v1f	ATPase H+ transporting V1 subunit F	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8833558	Atp6v1f	ATPase H+ transporting V1 subunit F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833569	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8833569	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8833569	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:10534	stomach cancer		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8833569	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8833569	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:1115	sarcoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8833569	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:1324	lung cancer		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8833569	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:1909	melanoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8833569	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:3275	thymoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8833569	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8833569	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8833569	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833569	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8833569	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833569	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8833569	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8833593	Cramp1	cramped chromatin regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8833593	Cramp1	cramped chromatin regulator 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8833593	Cramp1	cramped chromatin regulator 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8833593	Cramp1	cramped chromatin regulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833593	Cramp1	cramped chromatin regulator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323669	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8833593	Cramp1	cramped chromatin regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833593	Cramp1	cramped chromatin regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833593	Cramp1	cramped chromatin regulator 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1323669	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:0050795	cone dystrophy		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cone dystrophy	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:0050807	Kahrizi syndrome		ISO	RGD:1606233	D	RGD:7240710	20180130	OMIM			
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:0050807	Kahrizi syndrome		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: KAHRIZI SYNDROME | ClinVar Annotator: match by term: Kahrizi syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE	PMID:20637498|PMID:20700148|PMID:20852264|PMID:21937992|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:0080568	congenital disorder of glycosylation Iq		ISO	RGD:1606233	D	RGD:7240710	20180130	OMIM			
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:0080568	congenital disorder of glycosylation Iq		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1Q | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Iq | ClinVar Annotator: match by term: SRD5A3-related condition	PMID:17576681|PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31319225|PMID:31638560|PMID:32581362|PMID:35339718|PMID:9536098
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:0080918	polymicrogyria		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1606233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:1059	intellectual disability		ISO	RGD:1606233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:21937992|PMID:25741868
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:10609	rickets		ISO	RGD:1606233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rickets	PMID:21937992|PMID:25741868
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:10907	microcephaly		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:1606233	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23349890
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:12270	coloboma		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:12849	autistic disorder		ISO	RGD:1606233	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autistic disorder	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:12849	autistic disorder		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autism, susceptibility to, 17	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:2340	craniosynostosis		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: FGFR2-related craniosynostosis	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:3086	gingival overgrowth		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gingival overgrowth	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:3755	antithrombin III deficiency		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary antithrombin deficiency	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:420	hypertrichosis		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1606233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation	PMID:17576681|PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362|PMID:35339718|PMID:9536098
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:630	genetic disease		ISO	RGD:1606233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:674	cleft palate		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:9000343	Vision Disorders		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:20637498|PMID:20700148|PMID:20852264|PMID:21937992|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:9003133	Hypertelorism		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:9003816	Macrocephaly		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1606233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:21937992|PMID:25741868
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:930	orbital disease		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
8833621	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
8833633	Tspan4	tetraspanin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1314069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8833633	Tspan4	tetraspanin 4	gene	DOID:1115	sarcoma		ISO	RGD:1314069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8833633	Tspan4	tetraspanin 4	gene	DOID:1909	melanoma		ISO	RGD:1314069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8833633	Tspan4	tetraspanin 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8833633	Tspan4	tetraspanin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1314069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833633	Tspan4	tetraspanin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833633	Tspan4	tetraspanin 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8833633	Tspan4	tetraspanin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833633	Tspan4	tetraspanin 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8833658	Lamb1	laminin subunit beta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8833658	Lamb1	laminin subunit beta 1	gene	DOID:0050453	lissencephaly		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lissencephaly	PMID:25741868
8833658	Lamb1	laminin subunit beta 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8833658	Lamb1	laminin subunit beta 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314859	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
8833658	Lamb1	laminin subunit beta 1	gene	DOID:0070722	adult-onset leukoencephalopathy without lacunae		ISO	RGD:1314859	D	RGD:7240710	20260603	OMIM			
8833658	Lamb1	laminin subunit beta 1	gene	DOID:0070722	adult-onset leukoencephalopathy without lacunae		ISO	RGD:1314859	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITHOUT LACUNAE, ADULT-ONSET	PMID:25741868|PMID:28492532|PMID:34606115
8833658	Lamb1	laminin subunit beta 1	gene	DOID:0080918	polymicrogyria		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868
8833658	Lamb1	laminin subunit beta 1	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868
8833658	Lamb1	laminin subunit beta 1	gene	DOID:0112230	leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus		ISO	RGD:1314859	D	RGD:7240710	20180130	OMIM			
8833658	Lamb1	laminin subunit beta 1	gene	DOID:0112230	leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LAMB1-related condition | ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VARIABLE CORTICAL BRAIN MALFORMATIONS AND/OR HYDROCEPHALUS | ClinVar Annotator: match by term: Lissencephaly 5	PMID:16199547|PMID:17576681|PMID:23472759|PMID:25741868|PMID:25925986|PMID:28492532|PMID:38838312|PMID:9536098
8833658	Lamb1	laminin subunit beta 1	gene	DOID:0112237	lissencephaly 1		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Classic lissencephaly	PMID:16199547|PMID:23472759|PMID:25741868|PMID:25925986|PMID:28492532|PMID:38838312
8833658	Lamb1	laminin subunit beta 1	gene	DOID:10579	leukodystrophy		ISO	RGD:1314859	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868
8833658	Lamb1	laminin subunit beta 1	gene	DOID:1059	intellectual disability		ISO	RGD:1314859	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: severe intellectual disability	PMID:25741868
8833658	Lamb1	laminin subunit beta 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
8833658	Lamb1	laminin subunit beta 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:17576681|PMID:28492532|PMID:36939041|PMID:9536098
8833658	Lamb1	laminin subunit beta 1	gene	DOID:1115	sarcoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8833658	Lamb1	laminin subunit beta 1	gene	DOID:12270	coloboma		ISO	RGD:1314859	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18809619
8833658	Lamb1	laminin subunit beta 1	gene	DOID:12849	autistic disorder		ISO	RGD:1314859	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
8833658	Lamb1	laminin subunit beta 1	gene	DOID:1324	lung cancer		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8833658	Lamb1	laminin subunit beta 1	gene	DOID:1826	epilepsy		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8833658	Lamb1	laminin subunit beta 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1314859	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Multiple sclerosis	PMID:25741868|PMID:28492532
8833658	Lamb1	laminin subunit beta 1	gene	DOID:289	endometriosis		ISO	RGD:1314859	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
8833658	Lamb1	laminin subunit beta 1	gene	DOID:3070	high grade glioma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8833658	Lamb1	laminin subunit beta 1	gene	DOID:3642	empty sella syndrome		ISO	RGD:1314859	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Empty sella syndrome	
8833658	Lamb1	laminin subunit beta 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1314859	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28444932
8833658	Lamb1	laminin subunit beta 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8833658	Lamb1	laminin subunit beta 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833658	Lamb1	laminin subunit beta 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8833658	Lamb1	laminin subunit beta 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314859	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8833658	Lamb1	laminin subunit beta 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8833658	Lamb1	laminin subunit beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833658	Lamb1	laminin subunit beta 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8833658	Lamb1	laminin subunit beta 1	gene	DOID:630	genetic disease		ISO	RGD:1314859	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8833658	Lamb1	laminin subunit beta 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:1314859	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19915572
8833658	Lamb1	laminin subunit beta 1	gene	DOID:8927	learning disability		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
8833658	Lamb1	laminin subunit beta 1	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	PMID:25741868
8833658	Lamb1	laminin subunit beta 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8833658	Lamb1	laminin subunit beta 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:23472759|PMID:25741868|PMID:25925986|PMID:28492532
8833658	Lamb1	laminin subunit beta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833658	Lamb1	laminin subunit beta 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8833658	Lamb1	laminin subunit beta 1	gene	DOID:9008500	Classical Lissencephalies and Subcortical Band Heterotopias		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Classic lissencephaly	PMID:16199547|PMID:23472759|PMID:25741868|PMID:25925986|PMID:28492532|PMID:38838312
8833658	Lamb1	laminin subunit beta 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8833658	Lamb1	laminin subunit beta 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
8833658	Lamb1	laminin subunit beta 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:16199547|PMID:23472759|PMID:25741868|PMID:25925986|PMID:28492532|PMID:38838312
8833695	Mtmr12	myotubularin related protein 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8833695	Mtmr12	myotubularin related protein 12	gene	DOID:1115	sarcoma		ISO	RGD:1317364	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8833695	Mtmr12	myotubularin related protein 12	gene	DOID:3070	high grade glioma		ISO	RGD:1317364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8833695	Mtmr12	myotubularin related protein 12	gene	DOID:3275	thymoma		ISO	RGD:1317364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8833695	Mtmr12	myotubularin related protein 12	gene	DOID:4362	cervical cancer		ISO	RGD:1317364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833695	Mtmr12	myotubularin related protein 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1317364	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8833695	Mtmr12	myotubularin related protein 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833695	Mtmr12	myotubularin related protein 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833695	Mtmr12	myotubularin related protein 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8833715	Fsaf1	40S small subunit processome assembly factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8833715	Fsaf1	40S small subunit processome assembly factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8833715	Fsaf1	40S small subunit processome assembly factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8833715	Fsaf1	40S small subunit processome assembly factor 1	gene	DOID:3070	high grade glioma		ISO	RGD:1605298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8833715	Fsaf1	40S small subunit processome assembly factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605298	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8833715	Fsaf1	40S small subunit processome assembly factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833715	Fsaf1	40S small subunit processome assembly factor 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8833715	Fsaf1	40S small subunit processome assembly factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8833715	Fsaf1	40S small subunit processome assembly factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833731	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8833731	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8833731	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:10534	stomach cancer		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8833731	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:1115	sarcoma		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8833731	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:1909	melanoma		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8833731	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8833731	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:4362	cervical cancer		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833731	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8833731	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1606423	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8833731	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833731	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:6039	uveal melanoma		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8833731	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8833731	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606423	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8833731	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833754	Idnk	IDNK gluconokinase	gene	DOID:10534	stomach cancer		ISO	RGD:1347065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8833754	Idnk	IDNK gluconokinase	gene	DOID:1115	sarcoma		ISO	RGD:1347065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8833754	Idnk	IDNK gluconokinase	gene	DOID:1909	melanoma		ISO	RGD:1347065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8833754	Idnk	IDNK gluconokinase	gene	DOID:3275	thymoma		ISO	RGD:1347065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8833754	Idnk	IDNK gluconokinase	gene	DOID:4362	cervical cancer		ISO	RGD:1347065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833754	Idnk	IDNK gluconokinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8833754	Idnk	IDNK gluconokinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833789	Ptpn14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8833789	Ptpn14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:10534	stomach cancer		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8833789	Ptpn14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8833789	Ptpn14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1317339	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:32641753
8833789	Ptpn14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:1909	melanoma		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8833789	Ptpn14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8833789	Ptpn14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1317339	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26950094
8833789	Ptpn14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:4362	cervical cancer		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833789	Ptpn14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1317339	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8833789	Ptpn14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833789	Ptpn14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8833789	Ptpn14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:769	neuroblastoma		ISO	RGD:1317339	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26121086
8833789	Ptpn14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:9002801	Recurrence		ISO	RGD:1317339	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26121086
8833789	Ptpn14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833789	Ptpn14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:9007154	Choanal Atresia and Lymphedema		ISO	RGD:1317339	D	RGD:7240710	20180130	OMIM			
8833789	Ptpn14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:9007154	Choanal Atresia and Lymphedema		ISO	RGD:1317339	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHOANAL ATRESIA AND LYMPHEDEMA | ClinVar Annotator: match by term: Lymphedema-posterior choanal atresia syndrome | ClinVar Annotator: match by term: PTPN14-related condition	PMID:25741868
8833789	Ptpn14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8833789	Ptpn14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8833811	Gp9	glycoprotein IX platelet	gene	DOID:1588	thrombocytopenia		ISO	RGD:1351167	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia | ClinVar Annotator: match by term: thrombocytopenia	PMID:11167791|PMID:21173099|PMID:21699652|PMID:23402648|PMID:25741868|PMID:28492532|PMID:32581362
8833811	Gp9	glycoprotein IX platelet	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1351167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:25741868|PMID:34355501
8833811	Gp9	glycoprotein IX platelet	gene	DOID:2217	Bernard-Soulier syndrome		ISO	RGD:1351167	D	RGD:7240710	20180130	OMIM			
8833811	Gp9	glycoprotein IX platelet	gene	DOID:2217	Bernard-Soulier syndrome		ISO	RGD:1351167	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: Bernard-Soulier syndrome | ClinVar Annotator: match by term: GP9-related condition | ClinVar Annotator: match by term: Platelet Glycoprotein 1b, Deficiency of	PMID:11167791|PMID:15351858|PMID:21173099|PMID:21699652|PMID:23402648|PMID:25539746|PMID:25741868|PMID:28395735|PMID:28492532|PMID:29636940|PMID:31064749|PMID:32581362|PMID:34355501|PMID:35349645|PMID:8772211|PMID:9163595|PMID:9432024
8833811	Gp9	glycoprotein IX platelet	gene	DOID:2217	Bernard-Soulier syndrome	severity	ISO	RGD:1351167	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:c.182A>G(p.N61S)(human)	PMID:28131619|REF_RGD_ID:13464128
8833811	Gp9	glycoprotein IX platelet	gene	DOID:630	genetic disease		ISO	RGD:1351167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8833811	Gp9	glycoprotein IX platelet	gene	DOID:9001316	Bernard-Soulier Syndrome, Type C		ISO	RGD:1351167	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BERNARD-SOULIER SYNDROME, TYPE C | ClinVar Annotator: match by term: Bernard-Soulier syndrome type C	PMID:11167791|PMID:12100158|PMID:21173099|PMID:21699652|PMID:23402648|PMID:25539746|PMID:25741868|PMID:28395735|PMID:28492532|PMID:29636940|PMID:31064749|PMID:32581362|PMID:34355501|PMID:9163595|PMID:9432024
8833811	Gp9	glycoprotein IX platelet	gene	DOID:9005876	Thrombocytopenic Purpura		ISO	RGD:1351167	D	RGD:9068941	20200609	RGD			PMID:23103637|REF_RGD_ID:11040532
8833811	Gp9	glycoprotein IX platelet	gene	DOID:9008217	Hemorrhage		ISO	RGD:1351167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: bleeding	PMID:25539746
8833817	Eif5b	eukaryotic translation initiation factor 5B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8833817	Eif5b	eukaryotic translation initiation factor 5B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8833817	Eif5b	eukaryotic translation initiation factor 5B	gene	DOID:10534	stomach cancer		ISO	RGD:1353401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8833817	Eif5b	eukaryotic translation initiation factor 5B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8833817	Eif5b	eukaryotic translation initiation factor 5B	gene	DOID:1115	sarcoma		ISO	RGD:1353401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8833817	Eif5b	eukaryotic translation initiation factor 5B	gene	DOID:1324	lung cancer		ISO	RGD:1353401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8833817	Eif5b	eukaryotic translation initiation factor 5B	gene	DOID:1909	melanoma		ISO	RGD:1353401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8833817	Eif5b	eukaryotic translation initiation factor 5B	gene	DOID:2394	ovarian cancer		ISO	RGD:1353401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8833817	Eif5b	eukaryotic translation initiation factor 5B	gene	DOID:3070	high grade glioma		ISO	RGD:1353401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8833817	Eif5b	eukaryotic translation initiation factor 5B	gene	DOID:3275	thymoma		ISO	RGD:1353401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8833817	Eif5b	eukaryotic translation initiation factor 5B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353401	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8833817	Eif5b	eukaryotic translation initiation factor 5B	gene	DOID:4362	cervical cancer		ISO	RGD:1353401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833817	Eif5b	eukaryotic translation initiation factor 5B	gene	DOID:5041	esophageal cancer		ISO	RGD:1353401	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8833817	Eif5b	eukaryotic translation initiation factor 5B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833817	Eif5b	eukaryotic translation initiation factor 5B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8833817	Eif5b	eukaryotic translation initiation factor 5B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833817	Eif5b	eukaryotic translation initiation factor 5B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8833817	Eif5b	eukaryotic translation initiation factor 5B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8833858	Acvr1	activin A receptor type 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1344480	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	PMID:19085907|PMID:22977237|PMID:24705252|PMID:24705254|PMID:25741868|PMID:26727948|PMID:27048880|PMID:27993330|PMID:28492532|PMID:28966033|PMID:29307777|PMID:29967352|PMID:30833574|PMID:31012264|PMID:33973349|PMID:34185076|PMID:35587280
8833858	Acvr1	activin A receptor type 1	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:734161	D	RGD:9068941	20230427	RGD			PMID:22536403|REF_RGD_ID:329337340
8833858	Acvr1	activin A receptor type 1	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:1344480	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse Midline Glioma, H3 K27M-mutant | ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27M-mutant	PMID:16642017|PMID:17077940|PMID:17351709|PMID:18684712|PMID:18830232|PMID:19085907|PMID:20463014|PMID:21525719|PMID:22351757|PMID:22508565|PMID:22977237|PMID:23653868|PMID:24705250|PMID:24705252|PMID:24705254|PMID:24769718|PMID:25741868|PMID:26727948|PMID:27048880|PMID:27993330|PMID:28492532|PMID:28966033|PMID:29307777|PMID:29482508|PMID:29967352|PMID:30379592|PMID:30833574|PMID:31012264|PMID:32273545|PMID:33973349|PMID:34185076|PMID:35587280
8833858	Acvr1	activin A receptor type 1	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:1344480	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:16642017|PMID:17077940|PMID:17351709|PMID:18684712|PMID:18830232|PMID:19085907|PMID:20463014|PMID:21525719|PMID:22351757|PMID:22508565|PMID:22977237|PMID:23653868|PMID:24705252|PMID:24705254|PMID:24769718|PMID:25741868|PMID:26727948|PMID:27048880|PMID:27993330|PMID:28492532|PMID:28966033|PMID:29482508|PMID:29967352|PMID:30379592|PMID:35587280
8833858	Acvr1	activin A receptor type 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8833858	Acvr1	activin A receptor type 1	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:1344480	D	RGD:9068941	20230427	RGD		DNA:SNP:3'utr: (rs12997)	PMID:33443061|REF_RGD_ID:329328928
8833858	Acvr1	activin A receptor type 1	gene	DOID:13129	severe pre-eclampsia	severity	ISO	RGD:1344480	D	RGD:9068941	20230525	RGD		mRNA:increased expression:decidua basalis (human)	PMID:24331737|REF_RGD_ID:329845529
8833858	Acvr1	activin A receptor type 1	gene	DOID:13374	fibrodysplasia ossificans progressiva		ISO	RGD:1344480	D	RGD:7240710	20190508	OMIM			
8833858	Acvr1	activin A receptor type 1	gene	DOID:13374	fibrodysplasia ossificans progressiva		ISO	RGD:1344480	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACVR1-related condition | ClinVar Annotator: match by term: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA | ClinVar Annotator: match by term: Progressive myositis ossificans	PMID:16642017|PMID:17077940|PMID:17351709|PMID:17576681|PMID:18203193|PMID:18684712|PMID:18830232|PMID:18952055|PMID:19085907|PMID:20463014|PMID:21525719|PMID:22351757|PMID:22508565|PMID:22977237|PMID:23302548|PMID:23653868|PMID:24051199|PMID:2470525|PMID:24705250|PMID:24705251|PMID:24705252|PMID:24705254|PMID:24769718|PMID:25326637|PMID:25741868|PMID:26058333|PMID:26727948|PMID:27048880|PMID:27993330|PMID:28492532|PMID:28966033|PMID:29097342|PMID:29307777|PMID:29482508|PMID:29967352|PMID:30379592|PMID:30833574|PMID:31012264|PMID:33973349|PMID:34185076|PMID:35101336|PMID:35587280|PMID:9536098
8833858	Acvr1	activin A receptor type 1	gene	DOID:13641	exfoliation syndrome	disease_progression	ISO	RGD:1344480	D	RGD:9068941	20230525	RGD		DNA:missense mutation:SNP:rs12997 (human)	PMID:32641001|REF_RGD_ID:329845517
8833858	Acvr1	activin A receptor type 1	gene	DOID:1405	primary angle-closure glaucoma	sexual_dimorphism	ISO	RGD:1344480	D	RGD:9068941	20230525	RGD		DNA:missense mutation:SNP:rs12997 (human)	PMID:32641001|REF_RGD_ID:329845517
8833858	Acvr1	activin A receptor type 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:734161	D	RGD:9068941	20230427	RGD			PMID:22536403|REF_RGD_ID:329337340
8833858	Acvr1	activin A receptor type 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1344480	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: congenital heart disease	PMID:25741868|PMID:28492532
8833858	Acvr1	activin A receptor type 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:1344480	D	RGD:9068941	20200609	RGD			PMID:9714055|REF_RGD_ID:2317217
8833858	Acvr1	activin A receptor type 1	gene	DOID:1909	melanoma		ISO	RGD:1344480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8833858	Acvr1	activin A receptor type 1	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1344480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24705250
8833858	Acvr1	activin A receptor type 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8833858	Acvr1	activin A receptor type 1	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:1344480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma	PMID:10834937|PMID:12974945|PMID:20219075|PMID:24705250|PMID:26291313|PMID:27993330
8833858	Acvr1	activin A receptor type 1	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:734161	D	RGD:9068941	20230525	RGD			PMID:33345977|REF_RGD_ID:329845521
8833858	Acvr1	activin A receptor type 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8833858	Acvr1	activin A receptor type 1	gene	DOID:4483	rhinitis		ISO	RGD:1344480	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rhinitis	PMID:16642017|PMID:17077940|PMID:17351709|PMID:18684712|PMID:18830232|PMID:19085907|PMID:20463014|PMID:21525719|PMID:22351757|PMID:22508565|PMID:22977237|PMID:23653868|PMID:24705252|PMID:24705254|PMID:24769718|PMID:25741868|PMID:26727948|PMID:27048880|PMID:27993330|PMID:28492532|PMID:28966033|PMID:29482508|PMID:29967352|PMID:30379592|PMID:35587280
8833858	Acvr1	activin A receptor type 1	gene	DOID:630	genetic disease		ISO	RGD:1344480	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16642017|PMID:17077940|PMID:17351709|PMID:18684712|PMID:18830232|PMID:19085907|PMID:20463014|PMID:21525719|PMID:22351757|PMID:22508565|PMID:22977237|PMID:23653868|PMID:24705252|PMID:24705254|PMID:24769718|PMID:25741868|PMID:26727948|PMID:27048880|PMID:27993330|PMID:28492532|PMID:28966033|PMID:29307777|PMID:29482508|PMID:29967352|PMID:30379592|PMID:30833574|PMID:31012264|PMID:33973349|PMID:34185076|PMID:35587280
8833858	Acvr1	activin A receptor type 1	gene	DOID:668	myositis ossificans		ISO	RGD:1344480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8833858	Acvr1	activin A receptor type 1	gene	DOID:83	cataract		ISO	RGD:734161	D	RGD:9068941	20230429	RGD			PMID:21504908|REF_RGD_ID:8547757
8833858	Acvr1	activin A receptor type 1	gene	DOID:9000197	Edema		ISO	RGD:1344480	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Edema	PMID:16642017|PMID:17077940|PMID:17351709|PMID:18684712|PMID:18830232|PMID:19085907|PMID:20463014|PMID:21525719|PMID:22351757|PMID:22508565|PMID:22977237|PMID:23653868|PMID:24705252|PMID:24705254|PMID:24769718|PMID:25741868|PMID:26727948|PMID:27048880|PMID:27993330|PMID:28492532|PMID:28966033|PMID:29482508|PMID:29967352|PMID:30379592|PMID:35587280
8833858	Acvr1	activin A receptor type 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:620200	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney	PMID:11675415|REF_RGD_ID:2313802
8833858	Acvr1	activin A receptor type 1	gene	DOID:9003748	Thumb Deformity		ISO	RGD:1344480	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thumb deformity	PMID:19085907|PMID:22977237|PMID:24705252|PMID:24705254|PMID:25741868|PMID:26727948|PMID:27048880|PMID:27993330|PMID:28492532|PMID:28966033|PMID:29307777|PMID:29967352|PMID:30833574|PMID:31012264|PMID:33973349|PMID:34185076|PMID:35587280
8833858	Acvr1	activin A receptor type 1	gene	DOID:9004059	Eye Neoplasms		ISO	RGD:734161	D	RGD:9068941	20230429	RGD			PMID:21504908|REF_RGD_ID:8547757
8833858	Acvr1	activin A receptor type 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1344480	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:16642017|PMID:17077940|PMID:17351709|PMID:18684712|PMID:18830232|PMID:19085907|PMID:20463014|PMID:21525719|PMID:22351757|PMID:22508565|PMID:22977237|PMID:23653868|PMID:24705252|PMID:24705254|PMID:24769718|PMID:25741868|PMID:26727948|PMID:27048880|PMID:27993330|PMID:28492532|PMID:28966033|PMID:29482508|PMID:29967352|PMID:30379592|PMID:35587280
8833858	Acvr1	activin A receptor type 1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1344480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21297076
8833858	Acvr1	activin A receptor type 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344480	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:19085907|PMID:22977237|PMID:24705252|PMID:24705254|PMID:25741868|PMID:26727948|PMID:27048880|PMID:27993330|PMID:28492532|PMID:28966033|PMID:29307777|PMID:29967352|PMID:30833574|PMID:31012264|PMID:33973349|PMID:34185076|PMID:35587280
8833858	Acvr1	activin A receptor type 1	gene	DOID:9005834	Ependymomas		ISO	RGD:1344480	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ependymoma	PMID:16642017|PMID:17077940|PMID:17351709|PMID:18684712|PMID:18830232|PMID:19085907|PMID:20463014|PMID:21525719|PMID:22351757|PMID:22508565|PMID:22977237|PMID:23653868|PMID:24705252|PMID:24705254|PMID:24769718|PMID:25741868|PMID:26727948|PMID:27048880|PMID:27993330|PMID:28492532|PMID:28966033|PMID:29307777|PMID:29482508|PMID:29967352|PMID:30379592|PMID:30833574|PMID:31012264|PMID:33973349|PMID:34185076|PMID:35587280
8833858	Acvr1	activin A receptor type 1	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:620200	D	RGD:9068941	20230527	RGD		mRNA:increased expression:carotic artery (rat)	PMID:9622270|REF_RGD_ID:329845558
8833858	Acvr1	activin A receptor type 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833858	Acvr1	activin A receptor type 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344480	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19085907|PMID:22977237|PMID:24705252|PMID:24705254|PMID:25741868|PMID:26727948|PMID:27048880|PMID:27993330|PMID:28492532|PMID:28966033|PMID:29307777|PMID:29967352|PMID:30833574|PMID:31012264|PMID:33973349|PMID:34185076|PMID:35587280
8833858	Acvr1	activin A receptor type 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1344480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23180569
8833858	Acvr1	activin A receptor type 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8833858	Acvr1	activin A receptor type 1	gene	DOID:9598	fasciitis		ISO	RGD:1344480	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fasciitis	PMID:16642017|PMID:17077940|PMID:17351709|PMID:18684712|PMID:18830232|PMID:19085907|PMID:20463014|PMID:21525719|PMID:22351757|PMID:22508565|PMID:22977237|PMID:23653868|PMID:24705252|PMID:24705254|PMID:24769718|PMID:25741868|PMID:26727948|PMID:27048880|PMID:27993330|PMID:28492532|PMID:28966033|PMID:29482508|PMID:29967352|PMID:30379592|PMID:35587280
8833897	Fnta	farnesyltransferase, CAAX box, subunit alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8833897	Fnta	farnesyltransferase, CAAX box, subunit alpha	gene	DOID:1324	lung cancer		ISO	RGD:730816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8833897	Fnta	farnesyltransferase, CAAX box, subunit alpha	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:730816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
8833897	Fnta	farnesyltransferase, CAAX box, subunit alpha	gene	DOID:1909	melanoma		ISO	RGD:730816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8833897	Fnta	farnesyltransferase, CAAX box, subunit alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:730816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8833897	Fnta	farnesyltransferase, CAAX box, subunit alpha	gene	DOID:3070	high grade glioma		ISO	RGD:730816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8833897	Fnta	farnesyltransferase, CAAX box, subunit alpha	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:730816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8833897	Fnta	farnesyltransferase, CAAX box, subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:730816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833897	Fnta	farnesyltransferase, CAAX box, subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833897	Fnta	farnesyltransferase, CAAX box, subunit alpha	gene	DOID:6039	uveal melanoma		ISO	RGD:730816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8833897	Fnta	farnesyltransferase, CAAX box, subunit alpha	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:730816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8833897	Fnta	farnesyltransferase, CAAX box, subunit alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8833897	Fnta	farnesyltransferase, CAAX box, subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:20203246|REF_RGD_ID:5135461
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		DNA:SNPs: :3050G>C, 8473C>T (human)	PMID:21319594|REF_RGD_ID:5135280
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung:	PMID:14511257|REF_RGD_ID:5135507
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17942926
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11820457
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11978490
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		protein:increased expression:endothelial cell	PMID:18413499|REF_RGD_ID:4891909
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0051061	stroke		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20083630
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0051061	stroke		ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:15138244|REF_RGD_ID:1581289
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12151359|PMID:19522023
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:breast	PMID:18199541|REF_RGD_ID:2300203
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0060074	ductal carcinoma in situ	disease_progression	ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:18237383|REF_RGD_ID:2300199
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0060180	colitis		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11820457
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0060180	colitis	treatment	ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:17543437|REF_RGD_ID:2298659
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0060903	thrombosis		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20350286
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:26723251|REF_RGD_ID:11086779
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:17537981|REF_RGD_ID:2300262
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0080600	COVID-19		ISO	RGD:731006	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0080820	occupational asthma		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25721048
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0080822	aspirin-induced respiratory disease		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16502481|PMID:20485159
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0080822	aspirin-induced respiratory disease		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		protein:increased expression:mast cell	PMID:9487340|REF_RGD_ID:5143936
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0080855	Parkinsonism		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:16781689|REF_RGD_ID:5688269
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0080855	Parkinsonism		ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:21376018|REF_RGD_ID:5508224
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0080855	Parkinsonism		ISO	RGD:731007	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:neostriatum	PMID:15306248|REF_RGD_ID:5688225
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0081120	Graves ophthalmopathy		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17614770
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:0081292	traumatic brain injury		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28642177
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:10247	pleurisy		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:15740981|PMID:20141620|REF_RGD_ID:4142808|REF_RGD_ID:5143929
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1195G>A (human)	PMID:26788504|REF_RGD_ID:11554936
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:21701788|REF_RGD_ID:5688147
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:9740394|REF_RGD_ID:5688252
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:neocortex, hippocampus	PMID:8892355|REF_RGD_ID:5688254
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1067	open-angle glaucoma		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16330497
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:10762	portal hypertension		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:17876871|REF_RGD_ID:1642587
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:10763	hypertension		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:15775781|PMID:16467505|REF_RGD_ID:1580671|REF_RGD_ID:1581285
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:10763	hypertension		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:14757778|PMID:15834289|PMID:20667508|PMID:22349312
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:10808	gastric ulcer		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:17673547|REF_RGD_ID:2300260
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:10808	gastric ulcer		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10594344|PMID:11376495|PMID:12481160|PMID:19066340|PMID:9024292
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:10808	gastric ulcer		ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:17673547|REF_RGD_ID:2300260
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:11049	meconium aspiration syndrome		ISO	RGD:620349	D	RGD:9068941	20251204	RGD		mRNA:increased expression:lung	PMID:12621123|REF_RGD_ID:629096378
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731006	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:10582676|PMID:10873095|PMID:12442003|PMID:12664575|PMID:16098373|PMID:17093206|PMID:29396848|PMID:36115647
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:18222600|REF_RGD_ID:2300200
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:21255800|REF_RGD_ID:5508302
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:11054	urinary bladder cancer	susceptibility	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		DNA:SNP:3' utr:837T>C (human)	PMID:18381966|REF_RGD_ID:2300127
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:11088	asphyxia neonatorum		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17963755
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:11111	hydronephrosis		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22430074
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:11132	prostatic hypertrophy		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:25546515|REF_RGD_ID:11566048
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:11335	sarcoidosis		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung:	PMID:14511257|REF_RGD_ID:5135507
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:11335	sarcoidosis	susceptibility	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		DNA:SNP: :8473 T > C (human)	PMID:19042116|REF_RGD_ID:5135505
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:11383	cryptorchidism		ISO	RGD:731007	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:testis	PMID:22777528|REF_RGD_ID:11567213
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1176	bronchial disease	treatment	ISO	RGD:620349	D	RGD:9068941	20260730	RGD			PMID:36152413|REF_RGD_ID:736802360
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:118	pericardial effusion		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20801906
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:11832	visual epilepsy		ISO	RGD:731006	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:14518562
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1184	nephrotic syndrome		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:19194550|REF_RGD_ID:2317535
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:neuron	PMID:12663931|REF_RGD_ID:5688237
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:11963	esophagitis		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		associated with carcinoma, non-small-cell lung;	PMID:20811626|REF_RGD_ID:5131286
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:12140	Chagas disease		ISO	RGD:731007	D	RGD:9068941	20251106	RGD		protein:increased expression:heart, monocyte	PMID:26305786|REF_RGD_ID:11066041
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:12466	secondary hyperparathyroidism		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		associated with Uremia	PMID:21335517|REF_RGD_ID:5135046
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:12466	secondary hyperparathyroidism		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		associated with kidney failure, chronic: protein:increased expression:parathyroid gland	PMID:21335517|REF_RGD_ID:5135046
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:12849	autistic disorder		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18579107
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:12858	Huntington's disease		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:21362433|REF_RGD_ID:5508227
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1287	cardiovascular system disease		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17518513
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1287	cardiovascular system disease		ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:21843325|REF_RGD_ID:5508196
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1324	lung cancer		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:21303331|REF_RGD_ID:5135048
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:13948	bladder neck obstruction		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15311063
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20155627
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:14654	prostatitis		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:18554636|REF_RGD_ID:5135220
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1485	cystic fibrosis		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		DNA:SNPs: :-765G>C and 8473T>C (human)	PMID:20720307|REF_RGD_ID:5135298
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1485	cystic fibrosis		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal mucosa	PMID:18711055|REF_RGD_ID:5135523
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1561	cognitive disorder		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12410334
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1596	depressive disorder		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19356723
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1679	cystitis		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:20602232|REF_RGD_ID:5135058
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1724	duodenal ulcer		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12481160
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16543248|PMID:18202791
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10485483|PMID:10657949|PMID:15705899|PMID:16820089
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:20216081|REF_RGD_ID:2317175
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:pancreas	PMID:19820419|REF_RGD_ID:2317179
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		DNA:SNPs: :-1195A > G, -765G > C (human)	PMID:19062735|REF_RGD_ID:5135527
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :-1195A>A ,-765G>C (human)	PMID:19422084|REF_RGD_ID:2317184
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1824	status epilepticus		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:20643531|REF_RGD_ID:5135057
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1824	status epilepticus		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18988310
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1824	status epilepticus		ISO	RGD:731007	D	RGD:9068941	20260402	RGD		mRNA, protein:increased expression:hippocampus	PMID:32913950|REF_RGD_ID:644759959
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1909	melanoma		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17145863|PMID:17499752|PMID:18454317
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1936	atherosclerosis		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20720404
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:1967	leiomyosarcoma		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18645019
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:2154	nephroblastoma		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:16945639|REF_RGD_ID:2300206
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:2316	brain ischemia		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:12535784|REF_RGD_ID:1581286
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:2316	brain ischemia		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus	PMID:21718970|REF_RGD_ID:6480433
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:2316	brain ischemia		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15737438|PMID:17394460|PMID:17564305|PMID:19417757
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:2316	brain ischemia		ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:11158633|REF_RGD_ID:5688292
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:2349	arteriosclerosis		ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:16458279|REF_RGD_ID:1581287
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:2349	arteriosclerosis	resistance	ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:17643885|REF_RGD_ID:1642592
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:2384	Wernicke encephalopathy		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:medial thalamic group, inferior colliculus, neuron	PMID:18481165|REF_RGD_ID:2300278
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:2615	papilloma		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12151359|PMID:16144915
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10582676|PMID:10873095|PMID:12151359|PMID:12664575
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder	PMID:18449376|REF_RGD_ID:2300124
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:2841	asthma		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung:	PMID:18097056|REF_RGD_ID:5135534
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:2841	asthma		ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:19862936|REF_RGD_ID:5135515
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:2841	asthma		ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:19342146|REF_RGD_ID:5135522
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:2841	asthma		ISO	RGD:731007	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:19878559|REF_RGD_ID:5135514
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:2841	asthma	severity	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs689465 (human)	PMID:18489027|REF_RGD_ID:5135526
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:2841	asthma	susceptibility	ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:15316498|REF_RGD_ID:5143931
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:2841	asthma	susceptibility	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		DNA:SNP: :8473T>C (human)	PMID:17573729|REF_RGD_ID:5143923
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:289	endometriosis		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:20056215|REF_RGD_ID:5135061
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:289	endometriosis		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25446850
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:289	endometriosis	treatment	ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:23406865|REF_RGD_ID:7257718
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:299	adenocarcinoma		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		associated with Esophageal Neoplasms	PMID:17675820|REF_RGD_ID:1642603
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:299	adenocarcinoma		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10485483|PMID:16820089
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:2999	granulosa cell tumor		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01)	PMID:11994539|REF_RGD_ID:2289157
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21153458
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:3021	acute kidney failure		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:21893983|REF_RGD_ID:5508181
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:305	carcinoma		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10485483
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:3068	glioblastoma		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		protein:increased expression:endothelial cell	PMID:10229132|REF_RGD_ID:5688250
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:3068	glioblastoma	disease_progression	ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:11121536|REF_RGD_ID:5688245
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:3070	high grade glioma		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15561105
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:3071	gliosarcoma		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		protein:increased expression:endothelial cell	PMID:10229132|REF_RGD_ID:5688250
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :g.-765G>C (human)	PMID:21655952|REF_RGD_ID:5135277
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum	PMID:15949313|REF_RGD_ID:5143926
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:731006	D	RGD:9068941	20251106	RGD		DNA:SNP: :rs2745557	PMID:33545665|REF_RGD_ID:629006543
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:3213	demyelinating disease		ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:14694045|REF_RGD_ID:5688228
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:3213	demyelinating disease		ISO	RGD:731007	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:21530210|REF_RGD_ID:5688267
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:3312	bipolar disorder		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:prefrontal cortex	PMID:20038946|REF_RGD_ID:5688160
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11220737|PMID:15816863
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord, neuron, glia	PMID:14511332|REF_RGD_ID:5688235
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:3393	coronary artery disease		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14642682
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:18670639|REF_RGD_ID:2317185
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:37	skin disease		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15451306
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15756444|PMID:16543248|PMID:18197933
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:17825173|REF_RGD_ID:1642597
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		associated with sarcoidosis; DNA:SNP: :-765G>C (human)	PMID:21681100|REF_RGD_ID:5135504
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		DNA:SNP: :929G>C(human)	PMID:20016751|REF_RGD_ID:5135471
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:20592629|REF_RGD_ID:5135302
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:731006	D	RGD:9068941	20251106	RGD			PMID:20145019|REF_RGD_ID:629006547
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:4029	gastritis		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		mRNA:increased expression:stomach mucosa	PMID:18646190|REF_RGD_ID:2300274
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:403	mouth disease		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17682004
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:418	systemic scleroderma		ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:21979415|REF_RGD_ID:5508306
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:4195	hyperglycemia		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14514642
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney	PMID:12708469|REF_RGD_ID:2300212
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12664575
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:17899436|REF_RGD_ID:2300204
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:4481	allergic rhinitis		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16979129
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:4492	avian influenza		ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:18613795|REF_RGD_ID:5135502
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:4543	retrograde amnesia		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:18523723|REF_RGD_ID:2300277
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:620349	D	RGD:9068941	20260402	RGD		mRNA,protein:increased expression:esophagus	PMID:22165968|REF_RGD_ID:5687745
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12507933
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:4914	esophagus adenocarcinoma	disease_progression	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		protein:increased expression:esophagus	PMID:12055587|REF_RGD_ID:13207437
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731006	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:4989	pancreatitis		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19820421
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:4989	pancreatitis	onset	ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:21372163|REF_RGD_ID:5508226
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		human gene in mouse model	PMID:29109031|REF_RGD_ID:14695008
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:5394	prolactinoma		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pituitary gland	PMID:22580984|REF_RGD_ID:11667097
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:5419	schizophrenia		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:17881518|REF_RGD_ID:1642594
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12969226
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:557	kidney disease		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19643929
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:576	proteinuria		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19643929
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:5773	oral submucous fibrosis		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16311067
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:5844	myocardial infarction		ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:15138244|REF_RGD_ID:1581289
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:6000	congestive heart failure		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20304815
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:6255	growth hormone secreting pituitary adenoma		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pituitary gland	PMID:22580984|REF_RGD_ID:11667097
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:18542928|REF_RGD_ID:2300276
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:731007	D	RGD:9068941	20200609	RGD		anoxia associated;	PMID:19577709|REF_RGD_ID:5135495
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:18373278|REF_RGD_ID:2300283
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11872629|PMID:12024111|PMID:14563831|PMID:16374840|PMID:17510421
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:liver	PMID:24759835|REF_RGD_ID:14695011
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		protein:increased expression:liver, cytosol	PMID:15800977|REF_RGD_ID:14695012
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1195A>G (rs689466) (human)	PMID:24720952|REF_RGD_ID:14695010
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:620349	D	RGD:9068941	20220520	RGD			PMID:25999787|REF_RGD_ID:152177911
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:707	B-cell lymphoma		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14654083
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11978490|PMID:19192274
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:21905970|REF_RGD_ID:5508313
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16514081
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:783	end stage renal disease		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19420110
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:820	myocarditis		ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:16107267|REF_RGD_ID:1581288
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:8398	osteoarthritis		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:32004530
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:8398	osteoarthritis	susceptibility	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		DNA:SNP (human)	PMID:15334463|REF_RGD_ID:1625347
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:8398	osteoarthritis	treatment	ISO	RGD:620349	D	RGD:9068941	20260402	RGD			PMID:29380171|REF_RGD_ID:640480083
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:8437	intestinal obstruction		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		protein:increased expression:colon	PMID:21051526|REF_RGD_ID:5135055
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:850	lung disease		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19084589
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21451212
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:8577	ulcerative colitis		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:17429720|REF_RGD_ID:2300267
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:863	nervous system disease		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10698006
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		protein:altered localization	PMID:18468781|REF_RGD_ID:2300123
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:8719	in situ carcinoma		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10582676|PMID:10873095
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:8719	in situ carcinoma		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:18617777|REF_RGD_ID:2317186
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:8719	in situ carcinoma		ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:17652141|REF_RGD_ID:2317187
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:8778	Crohn's disease		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		protein:increased expression:colon	PMID:21763290|REF_RGD_ID:5508200
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:8991	cervix uteri carcinoma in situ	disease_progression	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix, epithelial cell	PMID:18565574|REF_RGD_ID:2299119
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:19606394|REF_RGD_ID:2317181
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:17575102|REF_RGD_ID:2317188
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000011	Gallbladder Neoplasms	susceptibility	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :-765G>C (rs20417), -1195G>A (rs689466) (human)	PMID:19455278|REF_RGD_ID:2317182
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:18606213|REF_RGD_ID:5135219
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19376970
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		associated with Biliary Tract Neoplasms	PMID:18159174|REF_RGD_ID:2317165
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms	PMID:18353210|REF_RGD_ID:2300128
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		associated with carcinoma, non-small-cell lung; DNA:SNP: :929G>C(human)	PMID:20016751|REF_RGD_ID:5135471
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11059772|PMID:16322294|PMID:17707579
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000117	Esophageal Neoplasms	susceptibility	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		DNA:SNPs: :-1195A > G, -765G > C (human)	PMID:16083713|REF_RGD_ID:5135528
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000197	Edema		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11820457
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10404093|PMID:17003101|PMID:17224647|PMID:22385256
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000325	Abscess	treatment	ISO	RGD:620349	D	RGD:9068941	20260402	RGD		associated with pleurisy	PMID:19726696|REF_RGD_ID:640480082
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000362	Adrenal Gland Neoplasms		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15492235
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:21725746|REF_RGD_ID:5508204
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000641	Pain		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:18497304|REF_RGD_ID:2300228
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000641	Pain		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		associated with Osteoarthritis, Knee;mRNA, protein:increased expression:spinal cord	PMID:18637715|REF_RGD_ID:2300223
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000641	Pain	susceptibility	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		associated with lung neoplasm;DNA:SNP:exon:rs5275 (human)	PMID:19773451|REF_RGD_ID:5135482
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000784	Fibrosis		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		associated with Cholestasis	PMID:18462380|REF_RGD_ID:2300279
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000784	Fibrosis		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11872629
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000855	Experimental Radiation Injuries		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		protein:increased expression:intestine	PMID:17699727|REF_RGD_ID:2290567
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000945	Ventilator-Induced Lung Injury		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:21048090|REF_RGD_ID:5134956
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Experimental	PMID:18398660|REF_RGD_ID:2300249
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16489006|PMID:18509974
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms	PMID:18663571|REF_RGD_ID:2300119
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		associated with breast neoplasm;	PMID:19421193|REF_RGD_ID:5135498
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		associated with osteosarcoma;	PMID:18797196|REF_RGD_ID:5135500
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:731007	D	RGD:9068941	20200609	RGD		associated with lung neoplasm	PMID:21238650|REF_RGD_ID:5135282
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000972	Fever		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:21741371|REF_RGD_ID:5508203
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000972	Fever		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25164664
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:21866634|REF_RGD_ID:5508191
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12410334|PMID:20810888|PMID:21549006
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:19719848|REF_RGD_ID:5688162
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9001109	Anorexia	treatment	ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:22902858|REF_RGD_ID:13825124
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9001129	Alcohol Withdrawal Delirium		ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:16318954|REF_RGD_ID:5688289
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		protein:increased expression:	PMID:14871450|REF_RGD_ID:5688227
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		protein:increased expression:	PMID:14871450|REF_RGD_ID:5688227
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9001472	Nasal Polyps		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis; protein:increased expression:nasal mucosa:	PMID:16517580|REF_RGD_ID:5143924
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9001488	Human Influenza		ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:16272346|REF_RGD_ID:5143925
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9001542	Albuminuria		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17890881
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17565644|PMID:18555214
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9001579	Neurogenic Inflammation		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17539917
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9001642	Intestinal Polyps		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10753194|PMID:11245490|PMID:11507063
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:17112505|REF_RGD_ID:5688268
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21441310|REF_RGD_ID:5135032
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:15464832|REF_RGD_ID:5688224
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17112505|PMID:17989504
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002221	Hyperplasia		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12151359|PMID:17093206|PMID:22561872
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16314473
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney	PMID:17272666|REF_RGD_ID:2308941
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12664575
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10753955|PMID:14754878|PMID:15126378|PMID:16506214|PMID:17609663
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		protein:altered localization	PMID:18468781|REF_RGD_ID:2300123
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002304	Prostatic Neoplasms	severity	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		DNA:hypermethylation	PMID:18242387|REF_RGD_ID:2300193
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:18758904|REF_RGD_ID:2300221
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:synovium	PMID:22289897|REF_RGD_ID:5687744
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:731007	D	RGD:9068941	20200609	RGD		protein:increased expression:autopod joint	PMID:21765105|REF_RGD_ID:5508310
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002589	Bone Fractures		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:18795192|REF_RGD_ID:5135218
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002669	Hypoxia		ISO	RGD:731007	D	RGD:9068941	20200609	RGD		protein:increased expression:pulmonary artery	PMID:19710084|REF_RGD_ID:5135519
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:21385433|REF_RGD_ID:5508223
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:731007	D	RGD:9068941	20200609	RGD		protein:increased expression:neuron, astrocyte, blood vessel	PMID:21385433|REF_RGD_ID:5508223
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:14766256|REF_RGD_ID:2300209
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:18171606|REF_RGD_ID:2298936
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		protein:increased expression:endothelial cell	PMID:10229132|REF_RGD_ID:5688250
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:731007	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex, cerebellum, spinal cord	PMID:21667309|REF_RGD_ID:5688149
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:21268133|REF_RGD_ID:5135051
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12189188|PMID:17667525|PMID:21081470
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix, epithelial cell	PMID:18565574|REF_RGD_ID:2299119
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9003507	Premature Birth		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26055944|PMID:27748297
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9003613	Laryngeal Neoplasms	severity	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		protein:increased expression:larynx	PMID:20429377|REF_RGD_ID:5135434
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:16247333|PMID:21944479|REF_RGD_ID:1580660|REF_RGD_ID:5508180
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney	PMID:21394482|REF_RGD_ID:5135045
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10588920|PMID:10594344|PMID:11567657|PMID:16386242|PMID:18258783|PMID:19673871
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9004389	Bone Neoplasms		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16489006
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9004397	Calcification of Aortic Valve		ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:25722432|REF_RGD_ID:13207434
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9004397	Calcification of Aortic Valve	disease_progression	ISO	RGD:731007	D	RGD:9068941	20200609	RGD		protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells	PMID:25722432|REF_RGD_ID:13207434
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17499752|PMID:19748995|PMID:21159610
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22387750
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:18336855|REF_RGD_ID:2300286
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9004590	Acute Liver Failure	severity	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		human gene in mouse model	PMID:19017995|REF_RGD_ID:14695009
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:19567182|REF_RGD_ID:5135496
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:20926798|REF_RGD_ID:5135287
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:18542928|REF_RGD_ID:2300276
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9004643	Urologic Neoplasms	disease_progression	ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:18400268|REF_RGD_ID:2300126
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14566678
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:18279516|REF_RGD_ID:2300130
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:21623034|REF_RGD_ID:5135030
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:18676768|REF_RGD_ID:2300118
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9005372	Inflammation		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:17701021|REF_RGD_ID:1642601
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9005372	Inflammation		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		associated with Cholestasis	PMID:18435714|REF_RGD_ID:2300281
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9005372	Inflammation		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		associated with Ileus	PMID:18266613|REF_RGD_ID:2300287
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9005372	Inflammation		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11094054|PMID:11321505|PMID:19084589
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9005372	Inflammation		ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:17701021|REF_RGD_ID:1642601
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:18706904|REF_RGD_ID:2300222
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:21521772|REF_RGD_ID:5135278
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		protein:increased expression:sciatic nerve	PMID:17720896|REF_RGD_ID:1642588
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14514642|PMID:21414306
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16543248|PMID:22561872
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9005930	Endotoxemia		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:21641970|REF_RGD_ID:5135029
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9005930	Endotoxemia		ISO	RGD:620349	D	RGD:9068941	20260402	RGD		mRNA:increased expression:hippocampus	PMID:26910812|REF_RGD_ID:644650471
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:17883899|REF_RGD_ID:1642586
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		protein:increased expression:	PMID:12916703|REF_RGD_ID:5688236
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10698006
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9007073	Cough		ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:20696045|REF_RGD_ID:5135513
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9007090	Experimental Seizures		ISO	RGD:620349	D	RGD:9068941	20241214	RGD			PMID:17827730|REF_RGD_ID:1642596
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9007090	Experimental Seizures		ISO	RGD:620349	D	RGD:9068941	20250308	RGD		mRNA:increased expression:hippocampus	PMID:22826223|REF_RGD_ID:597830152
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9007278	Anaphylaxis		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:18480553|REF_RGD_ID:2300247
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9007278	Anaphylaxis		ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:17822719|REF_RGD_ID:1642600
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9007284	Precocious Puberty		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21402727
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9007346	Cachexia		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17878525
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:20051374|REF_RGD_ID:5135063
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12969226
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11743745
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:29091898|REF_RGD_ID:15090820
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:29091898|REF_RGD_ID:15090820
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9007557	Laryngeal Papillomatosis		ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:19736197|REF_RGD_ID:5135499
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps	treatment	ISO	RGD:731007	D	RGD:9068941	20250904	RGD			PMID:23751068|REF_RGD_ID:626419675
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9007715	Endometrial Neoplasms	disease_progression	ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:18416056|REF_RGD_ID:2300125
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9007730	Burns		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15650120
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:17660401|REF_RGD_ID:2300261
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9007842	Sepsis-Associated Encephalopathy		ISO	RGD:620349	D	RGD:9068941	20250320	RGD		protein:decreased expression:cerebral cortex	PMID:31622656|REF_RGD_ID:598092488
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9007980	Sleep Deprivation		ISO	RGD:731007	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:18077435|REF_RGD_ID:6480426
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10485483|PMID:11375891|PMID:12837940|PMID:15753380|PMID:19671906|PMID:20427397
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16127422|PMID:16870006|PMID:17285134|PMID:18498876|PMID:18509974
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:breast	PMID:14605950|REF_RGD_ID:2300210
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:731006	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:breast	PMID:18612134|REF_RGD_ID:2300120
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9008939	Breast Neoplasms	susceptibility	ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:18334709|REF_RGD_ID:2300129
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9008967	Brain Concussion	treatment	ISO	RGD:620349	D	RGD:9068941	20260402	RGD			PMID:29792868|REF_RGD_ID:644670152
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9009039	Hyperemia		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11820457
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17761345
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9206	Barrett's esophagus		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:17675820|REF_RGD_ID:1642603
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9206	Barrett's esophagus		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11059772|PMID:15387324|PMID:17244951
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9206	Barrett's esophagus	disease_progression	ISO	RGD:731006	D	RGD:9068941	20200609	RGD			PMID:23011828|REF_RGD_ID:7349348
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9206	Barrett's esophagus	disease_progression	ISO	RGD:731006	D	RGD:9068941	20200609	RGD		mRNA: increased expression: Esophagus	PMID:12105834|REF_RGD_ID:13207438
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9351	diabetes mellitus		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15885672
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9351	diabetes mellitus		ISO	RGD:731007	D	RGD:9068941	20200609	RGD			PMID:15885672|REF_RGD_ID:5143927
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:18706904|REF_RGD_ID:2300222
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9452	steatotic liver disease		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver	PMID:21643627|REF_RGD_ID:5135028
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9655	oral mucosa leukoplakia		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18202791
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9675	pulmonary emphysema		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:20472710|REF_RGD_ID:4891488
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9743	diabetic neuropathy		ISO	RGD:620349	D	RGD:9068941	20200609	RGD			PMID:17720896|REF_RGD_ID:1642588
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9743	diabetic neuropathy		ISO	RGD:620349	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:peripheral nerve	PMID:21951301|REF_RGD_ID:5508311
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9970	obesity		ISO	RGD:731006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21156398
8833910	Ptgs2	prostaglandin-endoperoxide synthase 2	gene	DOID:9970	obesity		ISO	RGD:731007	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:21978752|REF_RGD_ID:5508307
8833928	Maml3	mastermind like transcriptional coactivator 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8833928	Maml3	mastermind like transcriptional coactivator 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8833928	Maml3	mastermind like transcriptional coactivator 3	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1317803	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
8833928	Maml3	mastermind like transcriptional coactivator 3	gene	DOID:0080799	sinonasal undifferentiated carcinoma		ISO	RGD:1317803	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24859338
8833928	Maml3	mastermind like transcriptional coactivator 3	gene	DOID:1115	sarcoma		ISO	RGD:1317803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8833928	Maml3	mastermind like transcriptional coactivator 3	gene	DOID:1682	congenital heart disease		ISO	RGD:1317803	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23708190
8833928	Maml3	mastermind like transcriptional coactivator 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833928	Maml3	mastermind like transcriptional coactivator 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1317803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8833928	Maml3	mastermind like transcriptional coactivator 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8833944	Smndc1	survival motor neuron domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8833944	Smndc1	survival motor neuron domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1319332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8833944	Smndc1	survival motor neuron domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833944	Smndc1	survival motor neuron domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8833961	Dlx4	distal-less homeobox 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8833961	Dlx4	distal-less homeobox 4	gene	DOID:0080408	orofacial cleft 15		ISO	RGD:1318695	D	RGD:7240710	20190315	OMIM			
8833961	Dlx4	distal-less homeobox 4	gene	DOID:0080408	orofacial cleft 15		ISO	RGD:1318695	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DLX4-related condition | ClinVar Annotator: match by term: Orofacial cleft 15	PMID:25741868|PMID:28492532
8833961	Dlx4	distal-less homeobox 4	gene	DOID:1909	melanoma		ISO	RGD:1318695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8833961	Dlx4	distal-less homeobox 4	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318695	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
8833961	Dlx4	distal-less homeobox 4	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1318695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26213588
8833975	Ripply3	ripply transcriptional repressor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8833975	Ripply3	ripply transcriptional repressor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833975	Ripply3	ripply transcriptional repressor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833984	Nectin3	nectin cell adhesion molecule 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8833984	Nectin3	nectin cell adhesion molecule 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8833984	Nectin3	nectin cell adhesion molecule 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833984	Nectin3	nectin cell adhesion molecule 3	gene	DOID:9002321	Teratozoospermia		ISO	RGD:1319897	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28689229
8833984	Nectin3	nectin cell adhesion molecule 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:0050463	campomelic dysplasia		ISO	RGD:1322513	D	RGD:7240710	20180130	OMIM			
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:0050463	campomelic dysplasia		ISO	RGD:1322513	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ACAMPOMELIC CAMPOMELIC DYSPLASIA | ClinVar Annotator: match by term: CAMPOMELIC DYSPLASIA | ClinVar Annotator: match by term: CMPD1/SRA1 | ClinVar Annotator: match by term: Campomelic Dysplasia | ClinVar Annotator: match by term: Campomelic dysplasia | ClinVar Annotator: match by term: Camptomelic dysplasia | ClinVar Annotator: match by term: SOX9-related condition	PMID:10951468|PMID:11323423|PMID:11371614|PMID:12810722|PMID:15300742|PMID:15806394|PMID:16199547|PMID:17576681|PMID:1809232|PMID:19033726|PMID:19921652|PMID:20301724|PMID:20513132|PMID:20812307|PMID:21218044|PMID:21373255|PMID:21412441|PMID:21614988|PMID:23564514|PMID:24038782|PMID:25741868|PMID:25983619|PMID:26078652|PMID:26633542|PMID:26740947|PMID:27899157|PMID:28492532|PMID:29542186|PMID:31389106|PMID:31549955|PMID:32381727|PMID:32595695|PMID:34092239|PMID:39039281|PMID:7485151|PMID:7990924|PMID:8001137|PMID:9002675|PMID:9452058|PMID:9536098
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:0050581	brachydactyly		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1322513	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20868653
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:0060249	scoliosis		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:0060260	ptosis		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:0060321	umbilical hernia		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:0080082	nonsyndromic congenital nail disorder 4		ISO	RGD:1322513	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19639023
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:0111763	46,XX sex reversal 2		ISO	RGD:1322513	D	RGD:7240710	20241204	OMIM			
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:0111763	46,XX sex reversal 2		ISO	RGD:1322513	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 46,XX SEX REVERSAL 2	
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:0111775	46,XY sex reversal 10		ISO	RGD:1322513	D	RGD:7240710	20241204	OMIM			
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:0111775	46,XY sex reversal 10		ISO	RGD:1322513	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 46,XY SEX REVERSAL 10	
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:10283	prostate cancer		ISO	RGD:1322513	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:10283	prostate cancer		ISO	RGD:1322513	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:1115	sarcoma		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:12849	autistic disorder		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:1324	lung cancer		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:1605727	D	RGD:9068941	20220407	RGD			PMID:31221478|REF_RGD_ID:151665930
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:14447	gonadal dysgenesis		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gonadal dysgenesis	PMID:25741868|PMID:26633542|PMID:28492532|PMID:34092239
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:10446171|PMID:21614988|PMID:27196604|PMID:27899157|PMID:31389106|PMID:35101336|PMID:9002675
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:1909	melanoma		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:305	carcinoma		ISO	RGD:1322513	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:3905	lung carcinoma	exacerbates	ISO	RGD:1605727	D	RGD:9068941	20220407	RGD			PMID:31221478|REF_RGD_ID:151665930
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:4258	Weissenbacher-Zweymuller syndrome		ISO	RGD:1322513	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19234473
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:630	genetic disease		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10446171|PMID:10951468|PMID:12161603|PMID:20513132|PMID:23551858|PMID:24704791|PMID:25741868|PMID:28492532|PMID:9066880
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:65	connective tissue disease		ISO	RGD:1322513	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:15806394|PMID:1809232|PMID:20301724|PMID:25741868|PMID:28492532|PMID:8001137|PMID:9002675
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:674	cleft palate		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1322513	D	RGD:9068941	20230608	CTD		CTD Direct Evidence: marker/mechanism	PMID:36914835
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1322513	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1322513	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32682831
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:9001561	Pseudovaginal Perineoscrotal Hypospadias		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	PMID:25741868
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:9002589	Bone Fractures		ISO	RGD:620474	D	RGD:9068941	20200609	RGD			PMID:21252473|REF_RGD_ID:11252151
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:9003184	Campomelic Dysplasia with Autosomal Sex Reversal		ISO	RGD:1322513	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL	PMID:11323423|PMID:12810722|PMID:15806394|PMID:1809232|PMID:20301724|PMID:21412441|PMID:25741868|PMID:26078652|PMID:26633542|PMID:28492532|PMID:31389106|PMID:34092239|PMID:7990924|PMID:8001137|PMID:9002675
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:9003816	Macrocephaly		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:9004538	Hearing Loss		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1322513	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32682831
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:9004795	Congenital Hand Deformities		ISO	RGD:1322513	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19639023
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1322513	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1322513	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:9005616	Micrognathism		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:9006314	Bent Bone Dysplasia Syndrome		ISO	RGD:1322513	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Bent bone dysplasia	PMID:25741868
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:9007661	Dwarfism		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12783851|PMID:25741868
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1322513	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11807034
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8833996	Sox9	SRY-box transcription factor 9	gene	DOID:9256	colorectal cancer		ISO	RGD:1322513	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8834028	Gfi1	growth factor independent 1 transcriptional repressor	gene	DOID:0050590	severe congenital neutropenia		ISO	RGD:10634	D	RGD:9068941	20220825	MouseDO		OMIM:202700 | OMIM:300299 | OMIM:610738 | OMIM:612541 | OMIM:613107 | OMIM:615285 | OMIM:616022	
8834028	Gfi1	growth factor independent 1 transcriptional repressor	gene	DOID:0050748	marginal zone lymphoma	disease_progression	ISO	RGD:10634	D	RGD:9068941	20200609	RGD			PMID:15231650|REF_RGD_ID:1581305
8834028	Gfi1	growth factor independent 1 transcriptional repressor	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:733642	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:bone marrow:	PMID:18371060|REF_RGD_ID:11040459
8834028	Gfi1	growth factor independent 1 transcriptional repressor	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:10634	D	RGD:9068941	20200609	RGD			PMID:22932805|REF_RGD_ID:11040453
8834028	Gfi1	growth factor independent 1 transcriptional repressor	gene	DOID:0112131	severe congenital neutropenia 2		ISO	RGD:733642	D	RGD:7240710	20180130	OMIM			
8834028	Gfi1	growth factor independent 1 transcriptional repressor	gene	DOID:0112131	severe congenital neutropenia 2		ISO	RGD:733642	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GFI1-related condition | ClinVar Annotator: match by term: NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant | ClinVar Annotator: match by term: Severe congenital neutropenia 2, autosomal dominant	PMID:12778173|PMID:17576681|PMID:18328744|PMID:24033266|PMID:25741868|PMID:27013732|PMID:28492532|PMID:32066420|PMID:36112213|PMID:37216690|PMID:9536098
8834028	Gfi1	growth factor independent 1 transcriptional repressor	gene	DOID:1227	neutropenia		ISO	RGD:10634	D	RGD:9068941	20200609	RGD			PMID:11810106|REF_RGD_ID:11040449
8834028	Gfi1	growth factor independent 1 transcriptional repressor	gene	DOID:1227	neutropenia		ISO	RGD:10634	D	RGD:9068941	20200609	RGD		DNA:mutation:exon:	PMID:22684987|REF_RGD_ID:11040456
8834028	Gfi1	growth factor independent 1 transcriptional repressor	gene	DOID:1240	leukemia		ISO	RGD:733642	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow mononuclear cell:	PMID:20723283|REF_RGD_ID:11040452
8834028	Gfi1	growth factor independent 1 transcriptional repressor	gene	DOID:3275	thymoma		ISO	RGD:733642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8834028	Gfi1	growth factor independent 1 transcriptional repressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733642	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834028	Gfi1	growth factor independent 1 transcriptional repressor	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:733642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8834028	Gfi1	growth factor independent 1 transcriptional repressor	gene	DOID:8692	myeloid leukemia		ISO	RGD:10634	D	RGD:9068941	20200609	RGD			PMID:21732494|REF_RGD_ID:11040451
8834028	Gfi1	growth factor independent 1 transcriptional repressor	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:733642	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16122429
8834028	Gfi1	growth factor independent 1 transcriptional repressor	gene	DOID:9002867	Myeloid Leukemia, Chronic-Phase		ISO	RGD:733642	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:mononuclea cell, CD34+ cell	PMID:19887785|REF_RGD_ID:11040457
8834028	Gfi1	growth factor independent 1 transcriptional repressor	gene	DOID:9002867	Myeloid Leukemia, Chronic-Phase	disease_progression	ISO	RGD:733642	D	RGD:9068941	20200609	RGD			PMID:23411466|REF_RGD_ID:11040461
8834028	Gfi1	growth factor independent 1 transcriptional repressor	gene	DOID:9005936	Gastro-Enteropancreatic Neuroendocrine Tumor		ISO	RGD:733642	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915428
8834028	Gfi1	growth factor independent 1 transcriptional repressor	gene	DOID:9006946	Nonimmune Chronic Idiopathic Neutropenia, Adult		ISO	RGD:733642	D	RGD:7240710	20180130	OMIM			
8834028	Gfi1	growth factor independent 1 transcriptional repressor	gene	DOID:9006946	Nonimmune Chronic Idiopathic Neutropenia, Adult		ISO	RGD:733642	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonimmune chronic idiopathic neutropenia of adults	PMID:12778173|PMID:25741868|PMID:28492532
8834028	Gfi1	growth factor independent 1 transcriptional repressor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8834028	Gfi1	growth factor independent 1 transcriptional repressor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733642	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
8834028	Gfi1	growth factor independent 1 transcriptional repressor	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:733642	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:c.107G>A(rs34631763)(human)	PMID:20075157|REF_RGD_ID:11040450
8834040	Baalc	BAALC binder of MAP3K1 and KLF4	gene	DOID:5041	esophageal cancer		ISO	RGD:736795	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8834040	Baalc	BAALC binder of MAP3K1 and KLF4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834040	Baalc	BAALC binder of MAP3K1 and KLF4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736795	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19822134
8834064	Tlx2	T cell leukemia homeobox 2	gene	DOID:0080072	intestinal pseudo-obstruction		ISO	RGD:1320083	D	RGD:9068941	20220825	MouseDO		OMIM:243180 | OMIM:601223	
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:0080600	COVID-19		ISO	RGD:1604286	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:10286	prostate carcinoma	disease_progression	ISO	RGD:1604286	D	RGD:9068941	20200609	RGD			PMID:21098708|REF_RGD_ID:13506773
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:11132	prostatic hypertrophy	disease_progression	ISO	RGD:1604286	D	RGD:9068941	20200609	RGD			PMID:22689130|REF_RGD_ID:13506770
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:1324	lung cancer		ISO	RGD:1604286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:1936	atherosclerosis		ISO	RGD:1604286	D	RGD:9068941	20230128	RGD		associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human)	PMID:33381146|REF_RGD_ID:155882464
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:2921	glomerulonephritis		ISO	RGD:621880	D	RGD:9068941	20200609	RGD			PMID:21866094|REF_RGD_ID:9854633
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:3070	high grade glioma		ISO	RGD:1604286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:3393	coronary artery disease		ISO	RGD:1604286	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378988|PMID:34961328
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:4783	mesangial proliferative glomerulonephritis		ISO	RGD:621880	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:glomerulus,serum:	PMID:12937299|REF_RGD_ID:9854637
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:4783	mesangial proliferative glomerulonephritis	treatment	ISO	RGD:621880	D	RGD:9068941	20200609	RGD			PMID:17308324|REF_RGD_ID:9854629
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:5082	liver cirrhosis		ISO	RGD:621880	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver:	PMID:17397961|REF_RGD_ID:9854631
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:5844	myocardial infarction		ISO	RGD:1604286	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:41871475
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:5844	myocardial infarction		ISO	RGD:621880	D	RGD:9068941	20200609	RGD		mRNA,protein:altered expression:myocardium:	PMID:21767547|REF_RGD_ID:9854703
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:9000310	Lung Injury		ISO	RGD:1604286	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25280005
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:9000612	Cardiac Allograft Vasculopathy		ISO	RGD:1604286	D	RGD:9068941	20200609	RGD			PMID:19213942|REF_RGD_ID:9854642
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:9000784	Fibrosis		ISO	RGD:1604286	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25280005
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:9004283	Transplant Rejection		ISO	RGD:621880	D	RGD:9068941	20200609	RGD			PMID:19213942|REF_RGD_ID:9854642
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:9005396	Intimal Hyperplasia		ISO	RGD:621880	D	RGD:9068941	20200609	RGD		protein:increased expression:smooth muscle cell:	PMID:15752751|REF_RGD_ID:9854640
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:621880	D	RGD:9068941	20200609	RGD		protein:increased expression:carotid artery:	PMID:18258854|REF_RGD_ID:9854624
8834072	Pdgfd	platelet derived growth factor D	gene	DOID:9007482	Bone Metastasis		ISO	RGD:1604286	D	RGD:9068941	20200609	RGD		associated with prostate carcinoma	PMID:22158043|REF_RGD_ID:13506772
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:0060058	lymphoma		ISO	RGD:737219	D	RGD:9068941	20200609	RGD			PMID:17609424|REF_RGD_ID:6483350
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:737219	D	RGD:9068941	20200609	RGD		protein: decreased expression	PMID:14750179|REF_RGD_ID:6483362
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:10316	pneumoconiosis		ISO	RGD:737219	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506645
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:1115	sarcoma		ISO	RGD:737219	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:737219	D	RGD:9068941	20200609	RGD			PMID:22363101|REF_RGD_ID:6483444
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:12306	vitiligo		ISO	RGD:737219	D	RGD:9068941	20200609	RGD			PMID:14551602|REF_RGD_ID:1578358
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:12858	Huntington's disease		ISO	RGD:11180	D	RGD:9068941	20200609	RGD			PMID:14684867|REF_RGD_ID:6483364
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:12858	Huntington's disease		ISO	RGD:737219	D	RGD:9068941	20200609	RGD			PMID:14684867|REF_RGD_ID:6483364
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:13976	peptic esophagitis		ISO	RGD:3427	D	RGD:9068941	20200609	RGD		protein:decreased expression:esophageal epithelium (rat)	PMID:23942904|REF_RGD_ID:9854630
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:1459	hypothyroidism		ISO	RGD:11180	D	RGD:9068941	20200609	RGD			PMID:19924240|REF_RGD_ID:6483332
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:2377	multiple sclerosis		ISO	RGD:737219	D	RGD:9068941	20200609	RGD			PMID:20174631|REF_RGD_ID:6483446
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:2722	acrodermatitis		ISO	RGD:737219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27258892
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:3459	breast carcinoma		ISO	RGD:3427	D	RGD:9068941	20200609	RGD		protein:altered expression:tumor (rat)	PMID:21889127|REF_RGD_ID:9854639
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:737219	D	RGD:9068941	20200609	RGD			PMID:19492245|REF_RGD_ID:6482249
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:4450	renal cell carcinoma		ISO	RGD:737219	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-151G>T (human)	PMID:11788900|REF_RGD_ID:9999148
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:737219	D	RGD:9068941	20200609	RGD		DNA: snp: rs17587	PMID:22034108|REF_RGD_ID:6483349
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:737219	D	RGD:9068941	20200609	RGD		DNA:missense mutation: cds: Arg60His	PMID:12189117|REF_RGD_ID:6483439
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:8161	oncocytic carcinoma of the thyroid		ISO	RGD:737219	D	RGD:9068941	20200609	RGD			PMID:19924240|REF_RGD_ID:6483332
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:8893	psoriasis		ISO	RGD:737219	D	RGD:9068941	20200609	RGD			PMID:17581627|REF_RGD_ID:6482263
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:9000380	Spondylarthritis		ISO	RGD:737219	D	RGD:9068941	20200609	RGD			PMID:15603870|REF_RGD_ID:6483462
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:9000380	Spondylarthritis	no_association	ISO	RGD:737219	D	RGD:9068941	20200609	RGD			PMID:9496154|REF_RGD_ID:6483495
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:737219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868|PMID:26524591
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:9004268	Uterine Neoplasms		ISO	RGD:11180	D	RGD:9068941	20200609	RGD			PMID:11782352|REF_RGD_ID:6483440
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:9004283	Transplant Rejection	severity	ISO	RGD:3427	D	RGD:9068941	20200609	RGD		protein:increased expression:liver, kidney (rat)	PMID:22834313|REF_RGD_ID:9854627
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:737219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:26524591
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3427	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus (rat)	PMID:20968039|REF_RGD_ID:9850284
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:737219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868|PMID:26524591
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:9007105	Hyperemesis Gravidarum		ISO	RGD:737219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperemesis gravidarum	PMID:25741868|PMID:26524591
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:9007355	Hashimoto Disease		ISO	RGD:737219	D	RGD:9068941	20200609	RGD			PMID:19924240|REF_RGD_ID:6483332
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:9008383	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6		ISO	RGD:737219	D	RGD:7240710	20240619	OMIM			
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:9008383	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6		ISO	RGD:737219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PSMB9-related condition | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 6	PMID:25741868
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:9008707	Viremia		ISO	RGD:737219	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Viremia	PMID:34819510
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:11180	D	RGD:9068941	20200609	RGD			PMID:11717249|REF_RGD_ID:6483441
8834093	Psmb9	proteasome 20S subunit beta 9	gene	DOID:9970	obesity		ISO	RGD:737219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:26524591
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:0081241	peroxisome biogenesis disorder 3B		ISO	RGD:68621	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PEROXISOMAL BIOGENESIS DISORDER 3B	
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:10534	stomach cancer		ISO	RGD:68621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:11721	glycogen storage disease VII		ISO	RGD:68621	D	RGD:7240710	20180130	OMIM			
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:11721	glycogen storage disease VII		ISO	RGD:68621	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE VII | ClinVar Annotator: match by term: Glycogen storage disease type VII | ClinVar Annotator: match by term: Glycogen storage disease, type VII | ClinVar Annotator: match by term: PFKM DEFICIENCY | ClinVar Annotator: match by term: Tarui disease	PMID:16199547|PMID:17576681|PMID:2140573|PMID:22133655|PMID:22364848|PMID:22995305|PMID:24011984|PMID:24033266|PMID:25741868|PMID:27066546|PMID:28492532|PMID:28779239|PMID:7479776|PMID:7513946|PMID:7603525|PMID:7825568|PMID:8037209|PMID:8444874|PMID:8659544|PMID:8880699|PMID:9389749|PMID:9443500|PMID:9536098
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:1324	lung cancer		ISO	RGD:68621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:2747	glycogen storage disease		ISO	RGD:68621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glycogen storage disease	PMID:25741868
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:2750	glycogen storage disease IV		ISO	RGD:68621	D	RGD:9068941	20230803	CTD		CTD Direct Evidence: marker/mechanism	PMID:30792690
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:3070	high grade glioma		ISO	RGD:68621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:68621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:4362	cervical cancer		ISO	RGD:68621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:5041	esophageal cancer		ISO	RGD:68621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:6039	uveal melanoma		ISO	RGD:68621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:28492532
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:630	genetic disease		ISO	RGD:68621	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:68621	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rhabdomyolysis	PMID:24033266|PMID:25741868|PMID:28492532|PMID:28779239|PMID:7603525|PMID:8037209|PMID:8444874|PMID:9389749
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:9005532	Muscle Weakness		ISO	RGD:68621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:17576681|PMID:28492532|PMID:9536098
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:68621	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14563825
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68621	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:24033266|PMID:25741868|PMID:28492532|PMID:28779239|PMID:7603525|PMID:8037209|PMID:8444874|PMID:9389749
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:68621	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8834109	Pfkm	phosphofructokinase, muscle	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8834147	Frs2	fibroblast growth factor receptor substrate 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8834147	Frs2	fibroblast growth factor receptor substrate 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8834147	Frs2	fibroblast growth factor receptor substrate 2	gene	DOID:1115	sarcoma		ISO	RGD:1317842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8834147	Frs2	fibroblast growth factor receptor substrate 2	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:1317842	D	RGD:9068941	20200609	RGD			PMID:25900027|REF_RGD_ID:11352663
8834147	Frs2	fibroblast growth factor receptor substrate 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317842	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8834147	Frs2	fibroblast growth factor receptor substrate 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834197	Slc17a3	solute carrier family 17 member 3	gene	DOID:13189	gout		ISO	RGD:1344101	D	RGD:7240710	20260708	OMIM			
8834197	Slc17a3	solute carrier family 17 member 3	gene	DOID:13189	gout		ISO	RGD:1344101	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GOUT SUSCEPTIBILITY 4	
8834197	Slc17a3	solute carrier family 17 member 3	gene	DOID:1324	lung cancer		ISO	RGD:1344101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8834197	Slc17a3	solute carrier family 17 member 3	gene	DOID:3275	thymoma		ISO	RGD:1344101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8834197	Slc17a3	solute carrier family 17 member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8834197	Slc17a3	solute carrier family 17 member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8834197	Slc17a3	solute carrier family 17 member 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1344101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732179	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:12210792|PMID:12872260|PMID:15349879|PMID:15689359|PMID:15929042|PMID:16177225|PMID:17426723|PMID:17980715|PMID:18500570|PMID:18546365|PMID:18828154|PMID:19307547|PMID:19478085|PMID:19578034|PMID:20301791|PMID:20513108|PMID:20818383|PMID:21228000|PMID:21670405|PMID:21880868|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:23448099|PMID:24272679|PMID:25286830|PMID:25585994|PMID:25741868|PMID:25850945|PMID:26467025|PMID:27538604|PMID:28471437|PMID:28480171|PMID:28492532|PMID:29655203|PMID:30423451|PMID:30451971|PMID:30552426|PMID:33486010|PMID:33791913|PMID:34782754|PMID:35307828
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:18546365|PMID:19578034|PMID:21880868|PMID:25286830|PMID:25741868|PMID:27538604|PMID:28492532
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:732179	D	RGD:9068941	20200609	RGD		associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations:cds:	PMID:20803511|REF_RGD_ID:8694192
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:732180	D	RGD:9068941	20220825	MouseDO		OMIM:614286	
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0060260	ptosis		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18783964|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21235791|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24725338|PMID:25286830|PMID:25741868|PMID:26104464|PMID:26467025|PMID:26735972|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:31440721|PMID:31589614|PMID:31980526|PMID:33473333|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0060307	autosomal dominant intellectual developmental disorder		ISO	RGD:732179	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability	PMID:14745080|PMID:17980715|PMID:20185557|PMID:25741868|PMID:27538665|PMID:28130605|PMID:28492532|PMID:29482223|PMID:30818899
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0060336	3-methylglutaconic aciduria		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: 3-Methylglutaconic aciduria	PMID:16621917|PMID:16896309|PMID:19125351|PMID:20601675|PMID:20883824|PMID:25741868|PMID:26640698|PMID:27987238|PMID:28492532|PMID:28815208|PMID:33258288
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0060898	Parkinson's disease 20		ISO	RGD:732179	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Early-onset Parkinson disease 20	PMID:18414213|PMID:21357833|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28337550|PMID:28492532|PMID:28776642|PMID:32391929|PMID:34426522|PMID:36325100
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0061215	hepatic fibrosis		ISO	RGD:732179	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hepatic fibrosis	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18783964|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20883824|PMID:21235791|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24725338|PMID:25286830|PMID:25741868|PMID:25914719|PMID:26104464|PMID:26467025|PMID:26735972|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:31440721|PMID:31589614|PMID:31980526|PMID:33473333|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35598585|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0070329	mitochondrial DNA depletion syndrome		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome	PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15258572|PMID:15349879|PMID:15689359|PMID:15800909|PMID:15917273|PMID:16368709|PMID:16545482|PMID:16621917|PMID:17502560|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19478085|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20142534|PMID:20185557|PMID:20385918|PMID:20513108|PMID:20601675|PMID:20685647|PMID:20818383|PMID:20837862|PMID:20883824|PMID:21138766|PMID:21824913|PMID:21880868|PMID:22189570|PMID:22342071|PMID:22470557|PMID:22537151|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24099403|PMID:24122062|PMID:24508722|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25914719|PMID:25940035|PMID:26077851|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28074849|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:2930250|PMID:29302508|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30395865|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31147703|PMID:31425757|PMID:31645654|PMID:32613234|PMID:33396418|PMID:33486010|PMID:33671400|PMID:33956154|PMID:34284285|PMID:34690748|PMID:35101151|PMID:35186329|PMID:35289132|PMID:35350396|PMID:35598585|PMID:35811315|PMID:35811324|PMID:35861376|PMID:36157077|PMID:36964972|PMID:37091313
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080119	mitochondrial DNA depletion syndrome 1		ISO	RGD:732179	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: MNGIE, TYMP-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type)	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20185557|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21305355|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25741916|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27111573|PMID:27119776|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:29997391|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30423451|PMID:30487145|PMID:30818899|PMID:30936349|PMID:30941926|PMID:31085725|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32305867|PMID:32391929|PMID:32445240|PMID:32567010|PMID:32613234|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33683010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34782754|PMID:34927673|PMID:35350396|PMID:35861376|PMID:36325100|PMID:36703223|PMID:37184518|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080119	mitochondrial DNA depletion syndrome 1		ISO	RGD:732179	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) | ClinVar Annotator: match by term: TYMP-related condition	PMID:10814718|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11684629|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14635118|PMID:14745080|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15929042|PMID:16080118|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19466586|PMID:19478085|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19862739|PMID:19887119|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21236670|PMID:21259344|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21654874|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22987704|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23233322|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25203713|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25852747|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26607151|PMID:26742794|PMID:26755490|PMID:26942291|PMID:27101133|PMID:27119776|PMID:27290639|PMID:27422324|PMID:27532257|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27917773|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28756246|PMID:28776642|PMID:28812649|PMID:28865037|PMID:28958595|PMID:29029963|PMID:29214156|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29590070|PMID:29655203|PMID:29913018|PMID:29920680|PMID:29992832|PMID:29997391|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30609409|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31147703|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31521625|PMID:31645654|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31765440|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32165824|PMID:32234506|PMID:32305867|PMID:32348839|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32567010|PMID:32613234|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33469851|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33600046|PMID:33683010|PMID:33726816|PMID:33763395|PMID:33791913|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34194468|PMID:34288125|PMID:34426522|PMID:34445196|PMID:34670123|PMID:34690748|PMID:34782754|PMID:34927673|PMID:35114397|PMID:35186329|PMID:35298342|PMID:35350396|PMID:35478072|PMID:35598585|PMID:35641312|PMID:35790454|PMID:35861376|PMID:36325100|PMID:36342673|PMID:36403551
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080119	mitochondrial DNA depletion syndrome 1		ISO	RGD:732179	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) | ClinVar Annotator: match by term: TYMP-related condition	PMID:36703223|PMID:36918699|PMID:36964972|PMID:37091313|PMID:37168916|PMID:37184518|PMID:37256495|PMID:37349538|PMID:38012111|PMID:38294884|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080119	mitochondrial DNA depletion syndrome 1		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) | ClinVar Annotator: match by term: TYMP-related condition	PMID:14745080|PMID:1582434|PMID:15824347|PMID:16199547|PMID:18414213|PMID:18546365|PMID:18716558|PMID:18991199|PMID:19578034|PMID:21357833|PMID:21824913|PMID:21880868|PMID:22863191|PMID:24122062|PMID:25025039|PMID:25065347|PMID:25488682|PMID:25741868|PMID:26467025|PMID:26942291|PMID:28130605|PMID:28337550|PMID:28480171|PMID:28492532|PMID:28776642|PMID:29482223|PMID:29793804|PMID:30818899|PMID:30941926|PMID:31147703|PMID:31440721|PMID:32391929|PMID:32502631|PMID:32613234|PMID:33469851|PMID:33726816|PMID:34426522|PMID:34986040|PMID:35861376|PMID:36325100|PMID:36703223|PMID:38434220|PMID:38895864
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080119	mitochondrial DNA depletion syndrome 1		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type)	PMID:11431686|PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:14745080|PMID:15349879|PMID:1539879|PMID:15477547|PMID:15689359|PMID:1582434|PMID:15824347|PMID:15929042|PMID:16080118|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18195149|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19478085|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20142534|PMID:20153822|PMID:20385918|PMID:20438629|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:21138766|PMID:21236670|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21824913|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22616202|PMID:22711370|PMID:22863191|PMID:22931735|PMID:23212759|PMID:23248042|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24265579|PMID:24288107|PMID:24508722|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26607151|PMID:26742794|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28776642|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29655203|PMID:29793804|PMID:29920680|PMID:30021052|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30634555|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:31147703|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31521625|PMID:31645654|PMID:31980526|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32567010|PMID:32613234|PMID:32860008|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33486010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34288125|PMID:34426522|PMID:34445196|PMID:34986040|PMID:35186329|PMID:35298342|PMID:35350396|PMID:35641312|PMID:35790454|PMID:35861376|PMID:36325100|PMID:36342673|PMID:36403551|PMID:36703223|PMID:36703500|PMID:36964972|PMID:37091313|PMID:37184518|PMID:38434220|PMID:38605122|PMID:38895864|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:732179	D	RGD:7240710	20181219	OMIM			
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:732179	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy	PMID:11301032|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16857757|PMID:16919951|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17067213|PMID:17088268|PMID:17280874|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19275594|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19837034|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20400524|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21447491|PMID:21455106|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22334187|PMID:22342071|PMID:22357363|PMID:22377773|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22552686|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22863191|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23719791|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23836942|PMID:23873972|PMID:23921535|PMID:2392416|PMID:24033266|PMID:24086434|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24194468|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25412673|PMID:25429852|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25525159|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25771874|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27381400|PMID:27422324|PMID:27450679
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:732179	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy	PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29950568|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30818899|PMID:30838265|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31147703|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:31996268|PMID:32019516|PMID:32234506|PMID:32347949|PMID:32348839|PMID:32502631|PMID:32600829|PMID:32703289|PMID:33258288|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34194468|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370|PMID:9500334|PMID:9536098
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:732179	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy	PMID:11301032|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16919951|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17067213|PMID:17088268|PMID:17280874|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19275594|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19500334|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19837034|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20400524|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21447491|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22215559|PMID:22237560|PMID:22277967|PMID:22334187|PMID:22342071|PMID:22357363|PMID:22377773|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22552686|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22863191|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23719791|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23830586|PMID:23836942|PMID:23873972|PMID:23921535|PMID:2392416|PMID:24033266|PMID:24086434|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24194468|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25412673|PMID:25429852|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25525159|PMID:25585994|PMID:25638290|PMID:25660390|PMID:25713120|PMID:25724872|PMID:25741868|PMID:25742477|PMID:25771874|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:732179	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy	PMID:27111573|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27349602|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27475922|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29278894|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29644085|PMID:29655203|PMID:29712893|PMID:29915382|PMID:29920680|PMID:29950568|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30385167|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30609409|PMID:30634555|PMID:30637288|PMID:30678510|PMID:30755392|PMID:30818899|PMID:30831263|PMID:30838265|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31147703|PMID:31164858|PMID:31425757|PMID:31475037|PMID:31521625|PMID:31571979|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31731261|PMID:31762033|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32161153|PMID:32234506|PMID:32347949|PMID:32348839|PMID:32445240|PMID:32502631|PMID:32504279|PMID:32567010|PMID:32600829|PMID:32703289|PMID:32964447|PMID:33233646|PMID:33258288|PMID:33278787|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33579567|PMID:33600046|PMID:33671400|PMID:33726816|PMID:33791913|PMID:34008892|PMID:34194468|PMID:34690748|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370|PMID:9536098
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:732179	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Alpers Syndrome | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy	PMID:11301032|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16919951|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17067213|PMID:17088268|PMID:17280874|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19275594|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19500334|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19837034|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20400524|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21447491|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22215559|PMID:22237560|PMID:22277967|PMID:22334187|PMID:22342071|PMID:22357363|PMID:22377773|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22552686|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22805437|PMID:22863191|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23719791|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23830586|PMID:23836942|PMID:23873972|PMID:23921535|PMID:2392416|PMID:24033266|PMID:24086434|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24194468|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25412673|PMID:25429852|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25525159|PMID:25585994|PMID:25638290|PMID:25660390|PMID:25713120|PMID:25724872|PMID:25741868|PMID:25742477|PMID:25771874|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26640698|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:732179	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Alpers Syndrome | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy	PMID:26968897|PMID:27016405|PMID:27111573|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27349602|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27475922|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29278894|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29644085|PMID:29655203|PMID:29712893|PMID:29913018|PMID:29915382|PMID:29920680|PMID:29950568|PMID:29992832|PMID:29997391|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30385167|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30609409|PMID:30634555|PMID:30637288|PMID:30678510|PMID:30755392|PMID:30818899|PMID:30831263|PMID:30838265|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31147703|PMID:31164858|PMID:31209396|PMID:31425757|PMID:31475037|PMID:31521625|PMID:31571979|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31731261|PMID:31762033|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32161153|PMID:32234506|PMID:32347949|PMID:32348839|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32504279|PMID:32567010|PMID:32600829|PMID:32703289|PMID:32964447|PMID:33046616|PMID:33233646|PMID:33258288|PMID:33278787|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33579567|PMID:33600046|PMID:33671400|PMID:33726816|PMID:33791913|PMID:34008892|PMID:34194468|PMID:34690748|PMID:34782754|PMID:35101151|PMID:35289132|PMID:35307828|PMID:35641312|PMID:35811324|PMID:632821|PMID:7847370|PMID:9536098
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:732179	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy	PMID:11301032|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16682683|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16919951|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17067213|PMID:17088268|PMID:17280874|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17923349|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19275594|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19500334|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19837034|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20400524|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21447491|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22215559|PMID:22237560|PMID:22277967|PMID:22334187|PMID:22342071|PMID:22357363|PMID:22377773|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22552686|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22805437|PMID:22863191|PMID:22931735|PMID:22933815|PMID:22980518|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23719791|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23830586|PMID:23836942|PMID:23873972|PMID:23921535|PMID:2392416|PMID:24033266|PMID:24086434|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24194468|PMID:24259288|PMID:24265579|PMID:24266892|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:2504279|PMID:25065347|PMID:25118206|PMID:25129007|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25412673|PMID:25429852|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25525159|PMID:25585994|PMID:25638290|PMID:25660390|PMID:25713120|PMID:25724872|PMID:25741868|PMID:25741916|PMID:25742477|PMID:25771874|PMID:25850945|PMID:25852747|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26554610
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:732179	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy	PMID:26557169|PMID:26607151|PMID:26640698|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27101133|PMID:27111573|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27349602|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27475922|PMID:27527004|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27917773|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28756246|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29214156|PMID:29272804|PMID:29278894|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29644085|PMID:29655203|PMID:29712893|PMID:29913018|PMID:29915382|PMID:29920680|PMID:29950568|PMID:29992832|PMID:29997391|PMID:30009132|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30385167|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30552426|PMID:30609409|PMID:30634555|PMID:30637288|PMID:30678510|PMID:30755392|PMID:30818899|PMID:30831263|PMID:30838265|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31075681|PMID:31085725|PMID:31130284|PMID:31147703|PMID:31164858|PMID:31209396|PMID:31359948|PMID:31425757|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31694722|PMID:31731261|PMID:31762033|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32161153|PMID:32165824|PMID:32234506|PMID:32305867|PMID:32347949|PMID:32348839|PMID:32364361|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32504279|PMID:32531456|PMID:32567010|PMID:32600829|PMID:32613234|PMID:32668698|PMID:32703289|PMID:32964447|PMID:33046616|PMID:33233646|PMID:33258288|PMID:33278787|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33600046|PMID:33671400|PMID:33683010|PMID:33726816|PMID:33791913|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34189666|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34690748|PMID:34777884|PMID:34782754|PMID:34927673|PMID:35101151|PMID:35114397|PMID:35186329|PMID:35289132|PMID:35307828|PMID:35350396|PMID:35478072|PMID:35488641|PMID:35598585|PMID:35641312|PMID:35699875|PMID:35760101|PMID:35799515|PMID:35811324|PMID:35861376|PMID:36065636|PMID:36325100|PMID:36332611|PMID:36403551|PMID:36689859|PMID:36703223|PMID:36987741|PMID:37184518|PMID:37189790|PMID:632821|PMID:7847370|PMID:9536098
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:732179	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy	PMID:11301032|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16682683|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16919951|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17067213|PMID:17088268|PMID:17280874|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17923349|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19275594|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19500334|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19837034|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20400524|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21447491|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22215559|PMID:22237560|PMID:22277967|PMID:22334187|PMID:22342071|PMID:22357363|PMID:22377773|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22552686|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22805437|PMID:22863191|PMID:22931735|PMID:22933815|PMID:22980518|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23596069|PMID:23665194|PMID:23719791|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23830586|PMID:23836942|PMID:23873972|PMID:23921535|PMID:2392416|PMID:24033266|PMID:24086434|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24194468|PMID:24259288|PMID:24265579|PMID:24266892|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:2504279|PMID:25065347|PMID:25118206|PMID:25129007|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25412673|PMID:25429852|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25525159|PMID:25585994|PMID:25638290|PMID:25660390|PMID:25713120|PMID:25724872|PMID:25741868|PMID:25742477|PMID:25771874|PMID:25850945|PMID:25852747|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26132555|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:732179	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy	PMID:26554610|PMID:26557169|PMID:26607151|PMID:26640698|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27101133|PMID:27111573|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27349602|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27475922|PMID:27527004|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27917773|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28756246|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29214156|PMID:29272804|PMID:29278894|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29644085|PMID:29655203|PMID:29712893|PMID:29913018|PMID:29915382|PMID:29920680|PMID:29950568|PMID:29992832|PMID:29997391|PMID:30009132|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30385167|PMID:30393377|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30552426|PMID:30609409|PMID:30634555|PMID:30637288|PMID:30678510|PMID:30755392|PMID:30818899|PMID:30831263|PMID:30838265|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31075681|PMID:31085725|PMID:31130284|PMID:31147703|PMID:31164858|PMID:31209396|PMID:31359948|PMID:31425757|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31694722|PMID:31731261|PMID:31762033|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32161153|PMID:32165824|PMID:32234506|PMID:32305867|PMID:32347949|PMID:32348839|PMID:32364361|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32504279|PMID:32531456|PMID:32567010|PMID:32600829|PMID:32613234|PMID:32668698|PMID:32703289|PMID:32964447|PMID:33046616|PMID:33233646|PMID:33258288|PMID:33278787|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33600046|PMID:33671400|PMID:33683010|PMID:33726816|PMID:33791913|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34189666|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34690748|PMID:34777884|PMID:34782754|PMID:34927673|PMID:35101151|PMID:35114397|PMID:35186329|PMID:35289132|PMID:35307828|PMID:35350396|PMID:35478072|PMID:35488641|PMID:35598585|PMID:35641312|PMID:35699875|PMID:35760101|PMID:35799515|PMID:35811324|PMID:35861376|PMID:36065636|PMID:36325100|PMID:36332611|PMID:36403551|PMID:36689859|PMID:36703223|PMID:36987741|PMID:37184518|PMID:37189790|PMID:632821|PMID:7847370|PMID:9536098
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:732179	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy	PMID:26557169|PMID:26607151|PMID:26640698|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27101133|PMID:27111573|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27349602|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27475922|PMID:27527004|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27917773|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28756246|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29214156|PMID:29272804|PMID:29278894|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29644085|PMID:29655203|PMID:29712893|PMID:29913018|PMID:29915382|PMID:29920680|PMID:29950568|PMID:29992832|PMID:29997391|PMID:30009132|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30385167|PMID:30393377|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30552426|PMID:30609409|PMID:30634555|PMID:30637288|PMID:30678510|PMID:30755392|PMID:30818899|PMID:30831263|PMID:30838265|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31075681|PMID:31085725|PMID:31130284|PMID:31147703|PMID:31164858|PMID:31209396|PMID:31359948|PMID:31425757|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31694722|PMID:31731261|PMID:31762033|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32161153|PMID:32165824|PMID:32234506|PMID:32305867|PMID:32347949|PMID:32348839|PMID:32364361|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32504279|PMID:32531456|PMID:32567010|PMID:32600829|PMID:32613234|PMID:32668698|PMID:32703289|PMID:32964447|PMID:33046616|PMID:33233646|PMID:33258288|PMID:33278787|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33600046|PMID:33671400|PMID:33683010|PMID:33726816|PMID:33791913|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34189666|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34690748|PMID:34777884|PMID:34782754|PMID:34927673|PMID:35101151|PMID:35114397|PMID:35186329|PMID:35289132|PMID:35307828|PMID:35350396|PMID:35478072|PMID:35488641|PMID:35598585|PMID:35641312|PMID:35699875|PMID:35760101|PMID:35799515|PMID:35811324|PMID:35861376|PMID:36065636|PMID:36325100|PMID:36332611|PMID:36403551|PMID:36689859|PMID:36703223|PMID:36987741|PMID:37184518|PMID:37189790|PMID:632821|PMID:7847370|PMID:9536098
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:732179	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Alpers progressive infantile poliodystrophy | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy	PMID:11301032|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16682683|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16919951|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17067213|PMID:17088268|PMID:17280874|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17923349|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19275594|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19500334|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19837034|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20400524|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21447491|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22215559|PMID:22237560|PMID:22277967|PMID:22334187|PMID:22342071|PMID:22357363|PMID:22377773|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22552686|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22805437|PMID:22863191|PMID:22931735|PMID:22933815|PMID:22980518|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23596069|PMID:23665194|PMID:23719791|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23830586|PMID:23836942|PMID:23873972|PMID:23921535|PMID:2392416|PMID:24033266|PMID:24086434|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24194468|PMID:24259288|PMID:24265579|PMID:24266892|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:2504279|PMID:25065347|PMID:25118206|PMID:25129007|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25412673|PMID:25429852|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25525159|PMID:25585994|PMID:25638290|PMID:25660390|PMID:25713120|PMID:25724872|PMID:25741868|PMID:25742477|PMID:25771874|PMID:25850945|PMID:25852747|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26554610
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:732179	D	RGD:8554872	20240716	ClinVar		ClinVar Annotator: match by term: Alpers disease | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy	PMID:11301032|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16682683|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16919951|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17067213|PMID:17088268|PMID:17280874|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17452773|PMID:17460694|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17923349|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19275594|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19500334|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19837034|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20400524|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21447491|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22215559|PMID:22237560|PMID:22277967|PMID:22334187|PMID:22342071|PMID:22357363|PMID:22377773|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22552686|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22805437|PMID:22863191|PMID:22931735|PMID:22933815|PMID:22980518|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23430898|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23596069|PMID:23665194|PMID:23719791|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23830586|PMID:23836942|PMID:23873972|PMID:23921535|PMID:2392416|PMID:24033266|PMID:24086434|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24194468|PMID:24259288|PMID:24265579|PMID:24266892|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:2504279|PMID:25065347|PMID:25118206|PMID:25129007|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25412673|PMID:25429852|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25525159|PMID:25585994|PMID:25638290|PMID:25660390|PMID:25713120|PMID:25724872|PMID:25741868|PMID:25742477|PMID:25771874|PMID:25850945|PMID:25852747|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:732179	D	RGD:8554872	20240716	ClinVar		ClinVar Annotator: match by term: Alpers disease | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy	PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26640698|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27101133|PMID:27111573|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27349602|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27475922|PMID:27527004|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27917773|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28756246|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29214156|PMID:29272804|PMID:29278894|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29644085|PMID:29655203|PMID:29712893|PMID:29913018|PMID:29915382|PMID:29920680|PMID:29950568|PMID:29992832|PMID:29997391|PMID:30009132|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30385167|PMID:30393377|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30552426|PMID:30609409|PMID:30634555|PMID:30637288|PMID:30678510|PMID:30755392|PMID:30818899|PMID:30831263|PMID:30838265|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31075681|PMID:31085725|PMID:31130284|PMID:31147703|PMID:31164858|PMID:31209396|PMID:31359948|PMID:31425757|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31694722|PMID:31731261|PMID:31762033|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32161153|PMID:32165824|PMID:32234506|PMID:32305867|PMID:32347949|PMID:32348839|PMID:32364361|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32504279|PMID:32531456|PMID:32567010|PMID:32600829|PMID:32613234|PMID:32668698|PMID:32703289|PMID:32964447|PMID:33046616|PMID:33233646|PMID:33258288|PMID:33278787|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33600046|PMID:33671400|PMID:33683010|PMID:33726816|PMID:33791913|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34189666|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34690748|PMID:34777884|PMID:34782754|PMID:34927673|PMID:35101151|PMID:35114397|PMID:35186329|PMID:35289132|PMID:35307828|PMID:35350396|PMID:35478072|PMID:35488641|PMID:35598585|PMID:35641312|PMID:35699875|PMID:35760101|PMID:35799515|PMID:35811324|PMID:35861376|PMID:36065636|PMID:36325100|PMID:36332611|PMID:36403551|PMID:36689859|PMID:36703223|PMID:36987741|PMID:37091313|PMID:37184518|PMID:37189790|PMID:632821|PMID:7847370|PMID:9536098
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:732179	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Alpers disease | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy	PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26640698|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27101133|PMID:27111573|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27349602|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27475922|PMID:27527004|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27917773|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28756246|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29214156|PMID:29272804|PMID:29278894|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29644085|PMID:29655203|PMID:29712893|PMID:29913018|PMID:29915382|PMID:29920680|PMID:29950568|PMID:29992832|PMID:29997391|PMID:30009132|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30385167|PMID:30393377|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30552426|PMID:30609409|PMID:30634555|PMID:30637288|PMID:30678510|PMID:30755392|PMID:30818899|PMID:30831263|PMID:30838265|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31075681|PMID:31085725|PMID:31130284|PMID:31147703|PMID:31164858|PMID:31209396|PMID:31359948|PMID:31425757|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31694722|PMID:31731261|PMID:31762033|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32161153|PMID:32165824|PMID:32234506|PMID:32305867|PMID:32347949|PMID:32348839|PMID:32364361|PMID:32382377|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32504279|PMID:32531456|PMID:32567010|PMID:32600829|PMID:32613234|PMID:32668698|PMID:32703289|PMID:32964447|PMID:33046616|PMID:33233646|PMID:33258288|PMID:33278787|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33600046|PMID:33671400|PMID:33683010|PMID:33726816|PMID:33791913|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34189666|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34690748|PMID:34777884|PMID:34782754|PMID:34927673|PMID:35101151|PMID:35114397|PMID:35186329|PMID:35289132|PMID:35307828|PMID:35350396|PMID:35478072|PMID:35488641|PMID:35598585|PMID:35641312|PMID:35699875|PMID:35760101|PMID:35799515|PMID:35811324|PMID:35861376|PMID:36065636|PMID:36325100|PMID:36332611|PMID:36403551|PMID:36689859|PMID:36703223|PMID:36987741|PMID:37091313|PMID:37184518|PMID:37189790|PMID:38294884|PMID:632821|PMID:7847370|PMID:9536098
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:732179	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy	PMID:11301032|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16682683|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16919951|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17067213|PMID:17088268|PMID:17280874|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17452773|PMID:17460694|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17923349|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19221117|PMID:19251978|PMID:19275594|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19500334|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19837034|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20400524|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20685647|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21167499|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21447491|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22215559|PMID:22237560|PMID:22277967|PMID:22334187|PMID:22342071|PMID:22357363|PMID:22377773|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22552686|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22805437|PMID:22863191|PMID:22931735|PMID:22933815|PMID:22980518|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23430898|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23596069|PMID:23665194|PMID:23719791|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23830586|PMID:23836942|PMID:23873972|PMID:23921535|PMID:2392416|PMID:24033266|PMID:24086434|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24194468|PMID:24259288|PMID:24265579|PMID:24266892|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24986207|PMID:25025039|PMID:2504279|PMID:25065347|PMID:25118206|PMID:25129007|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25412673|PMID:25429852|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25525159|PMID:25585994|PMID:25638290|PMID:25660390|PMID:25713120|PMID:25724872|PMID:25741868|PMID:25742477|PMID:25771874|PMID:25850945|PMID:25852747|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:732179	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy	PMID:26224072|PMID:26337858|PMID:26341968|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26640698|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27101133|PMID:27111573|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27349602|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27475922|PMID:27527004|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27854218|PMID:27917773|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28756246|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29214156|PMID:29272804|PMID:29278894|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29420653|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29590070|PMID:29644085|PMID:29655203|PMID:29913018|PMID:29915382|PMID:29920680|PMID:29950568|PMID:29992832|PMID:29997391|PMID:30009132|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30385167|PMID:30393377|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30552426|PMID:30609409|PMID:30634555|PMID:30637288|PMID:30678510|PMID:30755392|PMID:30818899|PMID:30831263|PMID:30838265|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31075681|PMID:31085725|PMID:31130284|PMID:31147703|PMID:31164858|PMID:31209396|PMID:31359948|PMID:31425757|PMID:31440721|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31694722|PMID:31731261|PMID:31762033|PMID:31765440|PMID:31799610|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32161153|PMID:32165824|PMID:32234506|PMID:32305867|PMID:32347949|PMID:32348839|PMID:32364361|PMID:32382377|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32504279|PMID:32531456|PMID:32567010|PMID:32600829|PMID:32613234|PMID:32668698|PMID:32703289|PMID:32949115|PMID:32964447|PMID:33046616|PMID:33233646|PMID:33258288|PMID:33278787|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33484326|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33600046|PMID:33671400|PMID:33683010|PMID:33726816|PMID:33763395|PMID:33791913|PMID:33931544|PMID:33956154|PMID:34008892|PMID:34023347|PMID:34052969|PMID:34062649|PMID:34189666|PMID:34194468|PMID:34288125|PMID:34426522|PMID:34445196|PMID:34490615|PMID:34504347|PMID:34504726|PMID:34670123|PMID:34690748|PMID:34732400|PMID:34777884|PMID:34782754|PMID:34803902|PMID:34927673|PMID:35101151|PMID:35114397|PMID:35186329|PMID:35289132|PMID:35298342|PMID:35307828|PMID:35350396|PMID:35478072|PMID:35488641|PMID:35598585|PMID:35641312|PMID:35699875|PMID:35760101|PMID:35790454|PMID:35799515|PMID:35811315|PMID:35811324|PMID:35860755|PMID:35861376|PMID:36065636|PMID:36157077|PMID:36325100|PMID:36332611|PMID:36342673|PMID:36403551|PMID:36658419|PMID:36689859|PMID:36703223|PMID:36703500|PMID:36918699|PMID:36964972|PMID:36987741|PMID:37091313|PMID:37168916|PMID:37184518|PMID:37189790|PMID:37256495|PMID:37301908|PMID:37349538|PMID:38012111|PMID:38294884|PMID:38772265|PMID:38845467|PMID:39118480|PMID:632821|PMID:7847370|PMID:9536098
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY | ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy	PMID:11431686|PMID:11555352|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16682683|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16919951|PMID:16929381|PMID:16943369|PMID:16957900|PMID:17067213|PMID:17088268|PMID:17418573|PMID:17420318|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17846414|PMID:17894835|PMID:17923349|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19221117|PMID:19251978|PMID:19275594|PMID:19344718|PMID:19478085|PMID:19500334|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20220442|PMID:20301791|PMID:20385918|PMID:20400524|PMID:20438629|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20685647|PMID:20691285|PMID:20701905|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21167499|PMID:21235791|PMID:21236670|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21704543|PMID:21824913|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22166854|PMID:22189570|PMID:22215559|PMID:22237560|PMID:22334187|PMID:22342071|PMID:22357363|PMID:22377773|PMID:22470557|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22778364|PMID:22805437|PMID:22863191|PMID:22931735|PMID:22980518|PMID:22995991|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23830586|PMID:23836942|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24099403|PMID:24122062|PMID:24194468|PMID:24265579|PMID:24266892|PMID:24272679|PMID:24288107|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25129007|PMID:25160553|PMID:25286830|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25525159|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25724872|PMID:25741868|PMID:25742477|PMID:25771874|PMID:25850945|PMID:25906927|PMID:25914719|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26341968|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26640698|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26968897|PMID:27101133|PMID:27290639|PMID:27349602|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27475922|PMID:27527004|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28074849|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29190809|PMID:29261183|PMID:29272804|PMID:29278894|PMID:2930250|PMID:29302508|PMID:29358615|PMID:29420653|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29644085|PMID:29655203|PMID:29793804|PMID:29915382|PMID:29920680|PMID:29992832|PMID:30009132|PMID:30021052|PMID:30076399|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30385167|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30552426|PMID:30634555|PMID:30678510|PMID:30818899
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY | ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy	PMID:30831263|PMID:30843307|PMID:30860128|PMID:30894134|PMID:30936349|PMID:30941926|PMID:31147703|PMID:31164858|PMID:31359948|PMID:31425757|PMID:31440721|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31665838|PMID:31731261|PMID:31762033|PMID:31843010|PMID:31980526|PMID:32161153|PMID:32234506|PMID:32347949|PMID:32364361|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32567010|PMID:32600829|PMID:32613234|PMID:32668698|PMID:32703289|PMID:32860008|PMID:32943091|PMID:32964447|PMID:32983930|PMID:33046616|PMID:33057194|PMID:33258288|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33484326|PMID:33486010|PMID:33528536|PMID:33579567|PMID:33671400|PMID:33726816|PMID:33791913|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34189666|PMID:34194468|PMID:34288125|PMID:34362006|PMID:34426522|PMID:34445196|PMID:34490615|PMID:34690748|PMID:34732400|PMID:34777884|PMID:34782754|PMID:34986040|PMID:35101151|PMID:35186329|PMID:35289132|PMID:35298342|PMID:35350396|PMID:35488641|PMID:35598585|PMID:35641312|PMID:35790454|PMID:35811315|PMID:35811324|PMID:35860755|PMID:35861376|PMID:35982159|PMID:36065636|PMID:36099812|PMID:36157077|PMID:36325100|PMID:36342673|PMID:36403551|PMID:36518302|PMID:36658419|PMID:36703223|PMID:36703500|PMID:36964972|PMID:37066920|PMID:37091313|PMID:37184518|PMID:37189790|PMID:37204315|PMID:37256495|PMID:37510298|PMID:38434220|PMID:38465286|PMID:38605122|PMID:38693247|PMID:38703036|PMID:38895864|PMID:39118480|PMID:39415767|PMID:39417332|PMID:7847370|PMID:9536098
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome	susceptibility	ISO	RGD:620057	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.P1073L (3218C>T) (human)	PMID:20142534|REF_RGD_ID:15039298
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome	susceptibility	ISO	RGD:732179	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.P1073L (3218C>T) (human)	PMID:20142534|REF_RGD_ID:15039298
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080122	Alpers-Huttenlocher syndrome	susceptibility	ISO	RGD:732180	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.P1073L (3218C>T) (human)	PMID:20142534|REF_RGD_ID:15039298
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080123	mitochondrial DNA depletion syndrome 4B		ISO	RGD:732179	D	RGD:7240710	20180130	OMIM			
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080123	mitochondrial DNA depletion syndrome 4B		ISO	RGD:732179	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: MNGIE, POLG-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b	PMID:10814718|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11684629|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15800909|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16919951|PMID:16940310|PMID:16957900|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19466586|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22277967|PMID:22342071|PMID:22357363|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23233322|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24986207|PMID:25025039|PMID:25118206|PMID:25129007|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25852747|PMID:25914719|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27101133|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27532257|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27917773|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28756246|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28865037|PMID:28958595|PMID:29029963|PMID:29214156|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29590070|PMID:29655203|PMID:29913018|PMID:29920680|PMID:29992832|PMID:29997391|PMID:30021052
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080123	mitochondrial DNA depletion syndrome 4B		ISO	RGD:732179	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: MNGIE, POLG-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b	PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30609409|PMID:30634555|PMID:30637288|PMID:30678510|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31147703|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31694722|PMID:31765440|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32165824|PMID:32234506|PMID:32305867|PMID:32347949|PMID:32348839|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32567010|PMID:32613234|PMID:32949115|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33600046|PMID:33683010|PMID:33726816|PMID:33763395|PMID:33791913|PMID:33956154|PMID:34008892|PMID:34023347|PMID:34052969|PMID:34062649|PMID:34194468|PMID:34288125|PMID:34426522|PMID:34445196|PMID:34490615|PMID:34504347|PMID:34504726|PMID:34670123|PMID:34690748|PMID:34732400|PMID:34755241|PMID:34782754|PMID:34803902|PMID:34927673|PMID:35114397|PMID:35186329|PMID:35289132|PMID:35298342|PMID:35307828|PMID:35350396|PMID:35478072|PMID:35598585|PMID:35641312|PMID:35699875|PMID:35790454|PMID:35799515|PMID:35860755|PMID:35861376|PMID:36065636|PMID:36325100|PMID:36332611|PMID:36342673|PMID:36403551|PMID:36658419|PMID:36703223|PMID:36703500|PMID:36732629|PMID:36918699|PMID:36964972|PMID:36987741|PMID:37084649|PMID:37091313|PMID:37168916|PMID:37184518|PMID:37189790|PMID:37256495|PMID:37349538|PMID:38012111|PMID:38294884|PMID:38772265|PMID:38845467|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080123	mitochondrial DNA depletion syndrome 4B		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) | ClinVar Annotator: match by term: MNGIE, POLG-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b	PMID:11431686|PMID:11555352|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15349879|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16919951|PMID:16957900|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20220442|PMID:20301791|PMID:20385918|PMID:20438629|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20685647|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20883824|PMID:21138766|PMID:21235791|PMID:21236670|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22084276|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22357363|PMID:22470557|PMID:22537151|PMID:22616202|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23324391|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24099403|PMID:24122062|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25129007|PMID:25286830|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25914719|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27349602|PMID:27422324|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28074849|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28865037|PMID:29272804|PMID:2930250|PMID:29302508|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29793804|PMID:29915382|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30385167|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30634555|PMID:30678510|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:31147703|PMID:31164858|PMID:31425757|PMID:31440721|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31980526|PMID:32005694|PMID:32234506|PMID:32347949|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32567010|PMID:32613234|PMID:32703289|PMID:32860008|PMID:32964447|PMID:33046616|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33528536|PMID:33671400|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34288125|PMID:34362006|PMID:34426522|PMID:34445196|PMID:34490615|PMID:34690748|PMID:34732400|PMID:34777884|PMID:34782754|PMID:34986040|PMID:35186329|PMID:35289132|PMID:35298342|PMID:35350396|PMID:35598585|PMID:35641312|PMID:35790454|PMID:35860755|PMID:35861376|PMID:36065636|PMID:36325100|PMID:36342673|PMID:36403551|PMID:36518302|PMID:36658419|PMID:36703223|PMID:36703500|PMID:36964972|PMID:37091313|PMID:37184518
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080123	mitochondrial DNA depletion syndrome 4B		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) | ClinVar Annotator: match by term: MNGIE, POLG-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b	PMID:38434220|PMID:38605122|PMID:38895864|PMID:39417332|PMID:7847370|PMID:9536098
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:732179	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21357833|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23811324|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27119776|PMID:27538604|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29474836|PMID:29482223|PMID:29588995|PMID:30255931|PMID:30290626|PMID:30373890|PMID:31571979|PMID:31658717|PMID:31669236|PMID:32234506|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:732179	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20185557|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21305355|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27111573|PMID:27119776|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:29997391|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30423451|PMID:30487145|PMID:30818899|PMID:30936349|PMID:30941926|PMID:31085725|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32305867|PMID:32391929|PMID:32445240|PMID:32567010|PMID:32613234|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33683010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34782754|PMID:34927673|PMID:35350396|PMID:35861376|PMID:36325100|PMID:36703223|PMID:37184518|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:732179	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20185557|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21305355|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27111573|PMID:27119776|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:29997391|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30818899|PMID:30936349|PMID:30941926|PMID:31085725|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:31996268|PMID:32042919|PMID:32234506|PMID:32305867|PMID:32391929|PMID:32445240|PMID:32567010|PMID:32613234|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33683010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34782754|PMID:34927673|PMID:35350396|PMID:35861376|PMID:36325100|PMID:36703223|PMID:37091313|PMID:37184518|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:732179	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14635118|PMID:14745080|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15929042|PMID:16080118|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17980715|PMID:18195149|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19862739|PMID:19887119|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20558295|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:21138766|PMID:21228000|PMID:21236670|PMID:21259344|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21654874|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22987704|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24828792|PMID:25025039|PMID:25118206|PMID:25203713|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25724872|PMID:25741868|PMID:25742477|PMID:25852747|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26607151|PMID:26742794|PMID:26755490|PMID:26942291|PMID:27111573|PMID:27119776|PMID:27290639|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27917773|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28756246|PMID:28776642|PMID:28812649|PMID:28865037|PMID:28958595|PMID:29029963|PMID:29214156|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29655203|PMID:29920680|PMID:29992832|PMID:29997391|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30423451|PMID:30451971|PMID:30478137|PMID:30487145|PMID:30609409|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31147703|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31521625|PMID:31645654|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31765440|PMID:31921313|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32165824|PMID:32183364|PMID:32234506|PMID:32305867|PMID:32348839|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32567010|PMID:32613234|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33683010|PMID:33726816|PMID:33763395|PMID:33791913|PMID:33809641|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34194468|PMID:34288125|PMID:34426522|PMID:34445196|PMID:34690748|PMID:34782754|PMID:34927673|PMID:35114397|PMID:35186329|PMID:35292633|PMID:35298342|PMID:35350396|PMID:35478072|PMID:35598585|PMID:35641312|PMID:35790454|PMID:35861376|PMID:36325100|PMID:36342673|PMID:36353900|PMID:36403551|PMID:36703223|PMID:36838782|PMID:36918699|PMID:36964972|PMID:37091313|PMID:37168916|PMID:37184518|PMID:37256495|PMID:38012111
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:732179	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION	PMID:38294884|PMID:38534782|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION	PMID:14745080|PMID:1582434|PMID:15824347|PMID:16199547|PMID:18414213|PMID:18546365|PMID:18716558|PMID:18991199|PMID:19578034|PMID:21357833|PMID:21824913|PMID:21880868|PMID:22863191|PMID:24122062|PMID:25025039|PMID:25065347|PMID:25488682|PMID:25741868|PMID:26467025|PMID:26942291|PMID:28130605|PMID:28337550|PMID:28480171|PMID:28492532|PMID:28776642|PMID:29482223|PMID:29793804|PMID:30818899|PMID:30941926|PMID:31147703|PMID:31440721|PMID:32391929|PMID:32502631|PMID:32613234|PMID:33469851|PMID:33726816|PMID:34426522|PMID:34986040|PMID:35861376|PMID:36325100|PMID:36703223|PMID:38434220|PMID:38895864
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION	PMID:11431686|PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:14745080|PMID:15349879|PMID:1539879|PMID:15477547|PMID:15689359|PMID:1582434|PMID:15824347|PMID:15929042|PMID:16080118|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18195149|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19478085|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20142534|PMID:20153822|PMID:20385918|PMID:20438629|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:21138766|PMID:21236670|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21824913|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22616202|PMID:22711370|PMID:22863191|PMID:22931735|PMID:23212759|PMID:23248042|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24265579|PMID:24288107|PMID:24508722|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26607151|PMID:26742794|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28776642|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29655203|PMID:29793804|PMID:29920680|PMID:30021052|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30634555|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:31147703|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31521625|PMID:31645654|PMID:31980526|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32567010|PMID:32613234|PMID:32860008|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33486010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34288125|PMID:34426522|PMID:34445196|PMID:34986040|PMID:35186329|PMID:35298342|PMID:35350396|PMID:35641312|PMID:35790454|PMID:35861376|PMID:36325100|PMID:36342673|PMID:36403551|PMID:36703223|PMID:36703500|PMID:36964972|PMID:37091313|PMID:37184518|PMID:38434220|PMID:38605122|PMID:38895864|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080833	laryngomalacia		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16545482|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:33956154|PMID:34008892|PMID:35350396|PMID:37091313|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0080855	Parkinsonism		ISO	RGD:732179	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17923349
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0081055	central diabetes insipidus		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Central diabetes insipidus	PMID:15477547|PMID:15689359|PMID:15824347|PMID:15929042|PMID:16080118|PMID:16177225|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18546343|PMID:18546365|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19251978|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20142534|PMID:20153822|PMID:20438629|PMID:20576279|PMID:20691285|PMID:20818383|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22166854|PMID:22189570|PMID:22616202|PMID:22711370|PMID:22931735|PMID:23212759|PMID:23248042|PMID:23448099|PMID:23808377|PMID:24033266|PMID:24122062|PMID:24725338|PMID:25025039|PMID:25497598|PMID:25585994|PMID:25713120|PMID:25741868|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26467025|PMID:26607151|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27822509|PMID:27838477|PMID:28130605|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30306720|PMID:30423451|PMID:30451971|PMID:30843307|PMID:30860128|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33486010|PMID:33726816|PMID:34052969|PMID:34288125|PMID:34445196|PMID:35298342|PMID:35641312|PMID:35790454|PMID:36342673|PMID:36403551|PMID:37184518
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:15477547|PMID:15689359|PMID:15824347|PMID:15929042|PMID:16080118|PMID:16177225|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18546343|PMID:18546365|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19251978|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20142534|PMID:20153822|PMID:20438629|PMID:20576279|PMID:20691285|PMID:20818383|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22166854|PMID:22189570|PMID:22616202|PMID:22711370|PMID:22931735|PMID:23212759|PMID:23248042|PMID:23448099|PMID:23808377|PMID:24033266|PMID:24122062|PMID:24725338|PMID:25025039|PMID:25497598|PMID:25585994|PMID:25713120|PMID:25741868|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26467025|PMID:26607151|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27822509|PMID:27838477|PMID:28130605|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30306720|PMID:30423451|PMID:30451971|PMID:30843307|PMID:30860128|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33486010|PMID:33726816|PMID:34052969|PMID:34288125|PMID:34445196|PMID:35298342|PMID:35641312|PMID:35790454|PMID:36342673|PMID:36403551|PMID:37184518
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		ISO	RGD:732179	D	RGD:7240710	20180130	OMIM			
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		ISO	RGD:732179	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16919951|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32234506|PMID:33469851|PMID:33473333|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		ISO	RGD:732179	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16919951|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32567010|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	PMID:11431686|PMID:11555352|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15349879|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16919951|PMID:16957900|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20220442|PMID:20301791|PMID:20385918|PMID:20438629|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20685647|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20883824|PMID:21138766|PMID:21235791|PMID:21236670|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22084276|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22470557|PMID:22537151|PMID:22616202|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23324391|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24099403|PMID:24122062|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25129007|PMID:25286830|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27349602|PMID:27422324|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28074849|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28865037|PMID:29272804|PMID:2930250|PMID:29302508|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29793804|PMID:29915382|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30385167|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30634555|PMID:30678510|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:31147703|PMID:31164858|PMID:31425757|PMID:31440721|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31980526|PMID:32234506|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32567010|PMID:32613234|PMID:32703289|PMID:32860008|PMID:32964447|PMID:33046616|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33528536|PMID:33671400|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34288125|PMID:34362006|PMID:34426522|PMID:34445196|PMID:34490615|PMID:34690748|PMID:34732400|PMID:34777884|PMID:34782754|PMID:34986040|PMID:35186329|PMID:35289132|PMID:35298342|PMID:35350396|PMID:35641312|PMID:35790454|PMID:35860755|PMID:35861376|PMID:36065636|PMID:36325100|PMID:36342673|PMID:36403551|PMID:36518302|PMID:36658419|PMID:36703223|PMID:36703500|PMID:36964972|PMID:37091313|PMID:37184518|PMID:38434220|PMID:38605122|PMID:38703036|PMID:38895864|PMID:39417332|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	PMID:9536098
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0111521	autosomal dominant progressive external ophthalmoplegia 1		ISO	RGD:732179	D	RGD:7240710	20180130	OMIM			
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0111521	autosomal dominant progressive external ophthalmoplegia 1		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	PMID:11431686|PMID:11555352|PMID:11897778|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16919951|PMID:16940310|PMID:16957900|PMID:17088268|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17725985|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20220442|PMID:20301791|PMID:20385918|PMID:20438629|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20685647|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20883824|PMID:21138766|PMID:21228000|PMID:21235791|PMID:21236670|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21824913|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22470557|PMID:22537151|PMID:22616202|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23324391|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24099403|PMID:24122062|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25129007|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25914719|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27349602|PMID:27422324|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28074849|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28865037|PMID:29272804|PMID:2930250|PMID:29302508|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29793804|PMID:29915382|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30385167|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30634555|PMID:30678510|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:31147703|PMID:31164858|PMID:31425757|PMID:31440721|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31980526|PMID:32161153|PMID:32234506|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32567010|PMID:32613234|PMID:32703289|PMID:32860008|PMID:32964447|PMID:33046616|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33528536|PMID:33671400|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34288125|PMID:34362006|PMID:34426522|PMID:34445196|PMID:34490615|PMID:34690748|PMID:34732400|PMID:34777884|PMID:34782754|PMID:34986040|PMID:35186329|PMID:35289132|PMID:35298342|PMID:35350396|PMID:35641312
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0111521	autosomal dominant progressive external ophthalmoplegia 1		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	PMID:35760101|PMID:35790454|PMID:35860755|PMID:35861376|PMID:36065636|PMID:36325100|PMID:36342673|PMID:36403551|PMID:36518302|PMID:36658419|PMID:36703223|PMID:36703500|PMID:36964972|PMID:37091313|PMID:37184518|PMID:38434220|PMID:38605122|PMID:38895864|PMID:39417332|PMID:7847370|PMID:9536098
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0111522	autosomal recessive progressive external ophthalmoplegia 1		ISO	RGD:732179	D	RGD:7240710	20191127	OMIM			
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0111522	autosomal recessive progressive external ophthalmoplegia 1		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1	PMID:11431686|PMID:11555352|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16919951|PMID:16957900|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20220442|PMID:20301791|PMID:20385918|PMID:20438629|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20685647|PMID:20691285|PMID:20701905|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20883824|PMID:21138766|PMID:21235791|PMID:21236670|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22166854|PMID:22189570|PMID:22334187|PMID:22342071|PMID:22470557|PMID:22537151|PMID:22616202|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23324391|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24099403|PMID:24122062|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25129007|PMID:25286830|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25914719|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27349602|PMID:27381400|PMID:27422324|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28074849|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28865037|PMID:29272804|PMID:2930250|PMID:29302508|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29793804|PMID:29915382|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30385167|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30634555|PMID:30678510|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:31147703|PMID:31164858|PMID:31425757|PMID:31440721|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31665838|PMID:31762033|PMID:31980526|PMID:32234506|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32567010|PMID:32613234|PMID:32703289|PMID:32860008|PMID:32964447|PMID:33046616|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33528536|PMID:33671400|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34288125|PMID:34362006|PMID:34426522|PMID:34445196|PMID:34490615|PMID:34690748|PMID:34732400|PMID:34777884|PMID:34782754|PMID:34986040|PMID:35186329|PMID:35289132|PMID:35298342|PMID:35350396|PMID:35641312|PMID:35790454|PMID:35860755|PMID:35861376|PMID:36065636|PMID:36325100|PMID:36342673|PMID:36403551|PMID:36518302|PMID:36658419|PMID:36703223|PMID:36703500|PMID:36964972
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0111522	autosomal recessive progressive external ophthalmoplegia 1		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1	PMID:37091313|PMID:37184518|PMID:38434220|PMID:38605122|PMID:38703036|PMID:38895864|PMID:39417332|PMID:7847370|PMID:9536098
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:732179	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:11431686|PMID:16368709|PMID:16639411|PMID:18195149|PMID:20601675|PMID:21880868|PMID:22006280|PMID:24288107|PMID:25741868|PMID:26095671|PMID:28492532|PMID:30634555|PMID:31521625|PMID:32567010|PMID:32860008|PMID:36703500|PMID:38605122
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16545482|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:33956154|PMID:34008892|PMID:35350396|PMID:37091313|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:10579	leukodystrophy		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:15477547|PMID:15689359|PMID:15824347|PMID:15929042|PMID:16080118|PMID:16177225|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18546343|PMID:18546365|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19251978|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20142534|PMID:20153822|PMID:20438629|PMID:20576279|PMID:20691285|PMID:20818383|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22166854|PMID:22189570|PMID:22616202|PMID:22711370|PMID:22931735|PMID:23212759|PMID:23248042|PMID:23448099|PMID:23808377|PMID:24033266|PMID:24122062|PMID:24725338|PMID:25025039|PMID:25497598|PMID:25585994|PMID:25713120|PMID:25741868|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26467025|PMID:26607151|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27822509|PMID:27838477|PMID:28130605|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30306720|PMID:30423451|PMID:30451971|PMID:30843307|PMID:30860128|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33486010|PMID:33726816|PMID:34052969|PMID:34288125|PMID:34445196|PMID:35298342|PMID:35641312|PMID:35790454|PMID:36342673|PMID:36403551|PMID:37184518
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:1059	intellectual disability		ISO	RGD:732179	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:14745080|PMID:15181170|PMID:15351195|PMID:16401742|PMID:16545482|PMID:17426723|PMID:17538929|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18487244|PMID:18546365|PMID:18716558|PMID:19103152|PMID:19195941|PMID:19251978|PMID:19478085|PMID:19578034|PMID:19752458|PMID:19862739|PMID:20185557|PMID:20818383|PMID:21259344|PMID:21654874|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21953457|PMID:22000311|PMID:22494076|PMID:22647225|PMID:23084792|PMID:23299917|PMID:23426270|PMID:23430834|PMID:23811324|PMID:24122062|PMID:24259288|PMID:24331360|PMID:24508722|PMID:24642831|PMID:25193669|PMID:25741868|PMID:26467025|PMID:27538665|PMID:28130605|PMID:28492532|PMID:29029963|PMID:29474836|PMID:30167885|PMID:30255931|PMID:30373890|PMID:30818899|PMID:31571979|PMID:31658717|PMID:31669236|PMID:32234506|PMID:33486010
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:1059	intellectual disability		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:11431686|PMID:11571332|PMID:12565911|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16545482|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:17538929|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18716558|PMID:18783964|PMID:19195941|PMID:19251978|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20220442|PMID:20301791|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21235791|PMID:21276947|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21953457|PMID:21993618|PMID:22006280|PMID:22084276|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24642831|PMID:24725338|PMID:25286830|PMID:25741868|PMID:26104464|PMID:26467025|PMID:26735972|PMID:26942291|PMID:26942292|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:28865037|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:31440721|PMID:31589614|PMID:31980526|PMID:33473333|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332|PMID:632821
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:1059	intellectual disability		ISO	RGD:732179	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16545482|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:17538929|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:19195941|PMID:19251978|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20220442|PMID:20301791|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21235791|PMID:21259344|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21953457|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24642831|PMID:24725338|PMID:25286830|PMID:25741868|PMID:26104464|PMID:26467025|PMID:26735972|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:28865037|PMID:29474836|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:31085725|PMID:31440721|PMID:31589614|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33473333|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:1059	intellectual disability		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:11431686|PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15349879|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17894835|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20220442|PMID:20301791|PMID:20385918|PMID:20438629|PMID:20513108|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21138766|PMID:21235791|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22084276|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23324391|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24265579|PMID:24272679|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25286830|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31589614|PMID:31645654|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34288125|PMID:34445196|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35298342|PMID:35350396|PMID:35641312|PMID:35790454|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36403551|PMID:36658419|PMID:36703500|PMID:37091313|PMID:37184518|PMID:39417332|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:10787	premature menopause		ISO	RGD:732179	D	RGD:9068941	20200609	RGD		associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations: :	PMID:15351195|REF_RGD_ID:8694175
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:10907	microcephaly		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16545482|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:33956154|PMID:34008892|PMID:35350396|PMID:37091313|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:11155	hypohidrosis		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:15477547|PMID:15689359|PMID:15824347|PMID:15929042|PMID:16080118|PMID:16177225|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18546343|PMID:18546365|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19251978|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20142534|PMID:20153822|PMID:20438629|PMID:20576279|PMID:20691285|PMID:20818383|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22166854|PMID:22189570|PMID:22616202|PMID:22711370|PMID:22931735|PMID:23212759|PMID:23248042|PMID:23448099|PMID:23808377|PMID:24033266|PMID:24122062|PMID:24725338|PMID:25025039|PMID:25497598|PMID:25585994|PMID:25713120|PMID:25741868|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26467025|PMID:26607151|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27822509|PMID:27838477|PMID:28130605|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30306720|PMID:30423451|PMID:30451971|PMID:30843307|PMID:30860128|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33486010|PMID:33726816|PMID:34052969|PMID:34288125|PMID:34445196|PMID:35298342|PMID:35641312|PMID:35790454|PMID:36342673|PMID:36403551|PMID:37184518
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:11162	respiratory failure		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16545482|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:33956154|PMID:34008892|PMID:35350396|PMID:37091313|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:11383	cryptorchidism		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16545482|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:33956154|PMID:34008892|PMID:35350396|PMID:37091313|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:28492532
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:11830	myopia		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:15477547|PMID:15689359|PMID:15824347|PMID:15929042|PMID:16080118|PMID:16177225|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18546343|PMID:18546365|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19251978|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20142534|PMID:20153822|PMID:20438629|PMID:20576279|PMID:20691285|PMID:20818383|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22166854|PMID:22189570|PMID:22616202|PMID:22711370|PMID:22931735|PMID:23212759|PMID:23248042|PMID:23448099|PMID:23808377|PMID:24033266|PMID:24122062|PMID:24725338|PMID:25025039|PMID:25497598|PMID:25585994|PMID:25713120|PMID:25741868|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26467025|PMID:26607151|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27822509|PMID:27838477|PMID:28130605|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30306720|PMID:30423451|PMID:30451971|PMID:30843307|PMID:30860128|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33486010|PMID:33726816|PMID:34052969|PMID:34288125|PMID:34445196|PMID:35298342|PMID:35641312|PMID:35790454|PMID:36342673|PMID:36403551|PMID:37184518
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:11832	visual epilepsy		ISO	RGD:732179	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30255931|PMID:30373890|PMID:30404819|PMID:30637288|PMID:30843307|PMID:30951992|PMID:31571979|PMID:31655921|PMID:31658717|PMID:31669236|PMID:32019516|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33469851|PMID:34008892|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16545482|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:33956154|PMID:34008892|PMID:35350396|PMID:37091313|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:12215	oligohydramnios		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16545482|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:33956154|PMID:34008892|PMID:35350396|PMID:37091313|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:12336	male infertility		ISO	RGD:732179	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17923349
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:12558	chronic progressive external ophthalmoplegia		ISO	RGD:732179	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17923349
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:12558	chronic progressive external ophthalmoplegia		ISO	RGD:732179	D	RGD:9068941	20200609	RGD		DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)	PMID:12565911|REF_RGD_ID:8694170
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:12558	chronic progressive external ophthalmoplegia		ISO	RGD:732179	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:	PMID:12975295|PMID:16401742|REF_RGD_ID:8694163|REF_RGD_ID:8694183
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:12558	chronic progressive external ophthalmoplegia		ISO	RGD:732179	D	RGD:9068941	20200609	RGD		DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human)	PMID:17420318|REF_RGD_ID:8694204
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:12558	chronic progressive external ophthalmoplegia		ISO	RGD:732179	D	RGD:9068941	20200609	RGD		DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)	PMID:11431686|REF_RGD_ID:737726
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:1283	enterocele		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16545482|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:33956154|PMID:34008892|PMID:35350396|PMID:37091313|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:12849	autistic disorder		ISO	RGD:732179	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:18156159|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28492532
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:12849	autistic disorder		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:11431686|PMID:11571332|PMID:12210792|PMID:12565911|PMID:12872260|PMID:14694057|PMID:15122711|PMID:15349879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:17980715|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18783964|PMID:18828154|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20220442|PMID:20301791|PMID:20513108|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21228000|PMID:21235791|PMID:21276947|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23545419|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24725338|PMID:25286830|PMID:25585994|PMID:25741868|PMID:26104464|PMID:26467025|PMID:26735972|PMID:26942291|PMID:26942292|PMID:27422324|PMID:27987238|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28771251|PMID:28812649|PMID:28837072|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30552426|PMID:30843307|PMID:31440721|PMID:31589614|PMID:31980526|PMID:33473333|PMID:33486010|PMID:33726816|PMID:33791913|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332|PMID:632821
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:12849	autistic disorder		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:11431686|PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15349879|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20220442|PMID:20301791|PMID:20385918|PMID:20438629|PMID:20513108|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21138766|PMID:21235791|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23324391|PMID:23430834|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24265579|PMID:24272679|PMID:24508722|PMID:24725338|PMID:25025039|PMID:25286830|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31589614|PMID:31645654|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34288125|PMID:34445196|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35298342|PMID:35350396|PMID:35641312|PMID:35790454|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36403551|PMID:36658419|PMID:36703500|PMID:37091313|PMID:37184518|PMID:39417332|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:13636	Fanconi anemia		ISO	RGD:11350368|RGD:11578967|RGD:127294428|RGD:127305659|RGD:127336597|RGD:12890515|RGD:13501130|RGD:14730849|RGD:151747746|RGD:151797026|RGD:151835863|RGD:152106827|RGD:152140121|RGD:152148658|RGD:156016167|RGD:156025841|RGD:156080454|RGD:156291639|RGD:156307399|RGD:156316929|RGD:156437354|RGD:38468903|RGD:405034380|RGD:405050540|RGD:405122620|RGD:405138441|RGD:405143979|RGD:405149561|RGD:405149960|RGD:405165716	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:28492532
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:13636	Fanconi anemia		ISO	RGD:11584482|RGD:11588119|RGD:11591395|RGD:11592051|RGD:11614837|RGD:11644279|RGD:11645425|RGD:11663265|RGD:11663490	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:13636	Fanconi anemia		ISO	RGD:11584482|RGD:11588119|RGD:11591395|RGD:11592051|RGD:11614837|RGD:11644279|RGD:11663265|RGD:11663490	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Fanconi pancytopenia	
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:13636	Fanconi anemia		ISO	RGD:11588119|RGD:11592051|RGD:11614837|RGD:11644279|RGD:11663265|RGD:11663490	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Fanconi's anemia	
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:13636	Fanconi anemia		ISO	RGD:11645425	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:25741868
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:13636	Fanconi anemia		ISO	RGD:8660404	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Fanconi's anemia	PMID:25741868|PMID:26467025|PMID:28492532
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:1389	polyneuropathy		ISO	RGD:732179	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18783964|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21235791|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24725338|PMID:25286830|PMID:25741868|PMID:26104464|PMID:26467025|PMID:26735972|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:31440721|PMID:31589614|PMID:31980526|PMID:33473333|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:14264	benign neonatal seizures		ISO	RGD:732179	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Neonatal seizure | ClinVar Annotator: match by term: neonatal seizures	PMID:14635118|PMID:16919951|PMID:20185557|PMID:21357833|PMID:21550804|PMID:21880868|PMID:25741868|PMID:28471437|PMID:28492532
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:14330	Parkinson's disease		ISO	RGD:732179	D	RGD:9068941	20200609	RGD		associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutation:cds:p.K512M(human)	PMID:23865558|REF_RGD_ID:8694203
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:14330	Parkinson's disease		ISO	RGD:732179	D	RGD:9068941	20200609	RGD		associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations: :	PMID:15351195|REF_RGD_ID:8694175
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:14330	Parkinson's disease	onset	ISO	RGD:732179	D	RGD:9068941	20200609	RGD		DNA:missense mutations:exons:p.R853W,p.G737R(human)	PMID:16634032|REF_RGD_ID:8694201
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:1596	depressive disorder		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Depression	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18783964|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21235791|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24725338|PMID:25286830|PMID:25741868|PMID:26104464|PMID:26467025|PMID:26735972|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:31440721|PMID:31589614|PMID:31980526|PMID:33473333|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:1824	status epilepticus		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16177225|PMID:16368709|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19251978|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20301791|PMID:20438629|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20883824|PMID:21235791|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:23808377|PMID:24033266|PMID:24122062|PMID:24272679|PMID:24725338|PMID:25025039|PMID:25286830|PMID:25497598|PMID:25585994|PMID:25713120|PMID:25741868|PMID:25914719|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26467025|PMID:26607151|PMID:26640698|PMID:26735972|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28130605|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28812649|PMID:28815208|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:30860128|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31589614|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33258288|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34288125|PMID:34445196|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35298342|PMID:35350396|PMID:35598585|PMID:35641312|PMID:35790454|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36403551|PMID:36658419|PMID:36703500|PMID:37091313|PMID:37184518|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:1826	epilepsy		ISO	RGD:732179	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Seizure Disorders | ClinVar Annotator: match by term: Seizures	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32234506|PMID:33469851|PMID:33473333|PMID:33726816|PMID:34008892|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:1826	epilepsy		ISO	RGD:732179	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder | ClinVar Annotator: match by term: Seizures	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32019516|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33469851|PMID:33473333|PMID:33726816|PMID:34008892|PMID:34782754|PMID:35307828|PMID:632821
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:1826	epilepsy		ISO	RGD:732179	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder | ClinVar Annotator: match by term: Seizures	PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:1826	epilepsy		ISO	RGD:732179	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32019516|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:1826	epilepsy		ISO	RGD:732179	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:35307828|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:1826	epilepsy		ISO	RGD:732179	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32019516|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:1826	epilepsy		ISO	RGD:732179	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:34008892|PMID:34690748|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:1826	epilepsy		ISO	RGD:732179	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:15181170|PMID:15351195|PMID:16401742|PMID:16545482|PMID:17538929|PMID:18156159|PMID:18716558|PMID:19195941|PMID:19578034|PMID:19752458|PMID:20220442|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21953457|PMID:22084276|PMID:22647225|PMID:23426270|PMID:23811324|PMID:24122062|PMID:24259288|PMID:24331360|PMID:24508722|PMID:24642831|PMID:25193669|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28865037|PMID:29029963|PMID:29913018|PMID:29997391|PMID:30255931|PMID:30373890|PMID:31521625|PMID:31571979|PMID:31658717|PMID:31669236|PMID:32234506|PMID:33600046
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:1826	epilepsy		ISO	RGD:732179	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:15181170|PMID:15351195|PMID:16401742|PMID:16545482|PMID:17538929|PMID:18156159|PMID:18716558|PMID:19195941|PMID:19578034|PMID:19752458|PMID:20220442|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21953457|PMID:22084276|PMID:22647225|PMID:23426270|PMID:23811324|PMID:24122062|PMID:24259288|PMID:24331360|PMID:24508722|PMID:24642831|PMID:25193669|PMID:25741868|PMID:26467025|PMID:28480171|PMID:28492532|PMID:28865037|PMID:29029963|PMID:29913018|PMID:29997391|PMID:30255931|PMID:30373890|PMID:31521625|PMID:31658717|PMID:31669236|PMID:32234506|PMID:33513296|PMID:33600046|PMID:33683010
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:1826	epilepsy		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11431686|PMID:11571332|PMID:12565911|PMID:12975295|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15800909|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:17538929|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:19125351|PMID:19195941|PMID:19251978|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19762913|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20185557|PMID:20220442|PMID:20301791|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20883824|PMID:21235791|PMID:21276947|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21953457|PMID:21993618|PMID:22006280|PMID:22084276|PMID:22189570|PMID:22342071|PMID:22357363|PMID:22470557|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24099403|PMID:24272679|PMID:24642831|PMID:24725338|PMID:25286830|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26224072|PMID:26467025|PMID:26640698|PMID:26735972|PMID:26942291|PMID:26942292|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:28815208|PMID:28865037|PMID:29474836|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:31440721|PMID:31589614|PMID:31980526|PMID:33258288|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34690748|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332|PMID:632821
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:1826	epilepsy		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11431686|PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15349879|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15800909|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20220442|PMID:20301791|PMID:20385918|PMID:20438629|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20883824|PMID:21138766|PMID:21235791|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22084276|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22357363|PMID:22470557|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23324391|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23921535|PMID:24033266|PMID:24099403|PMID:24122062|PMID:24265579|PMID:24272679|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25286830|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26607151|PMID:26640698|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28812649|PMID:28815208|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31589614|PMID:31645654|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33258288|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34288125|PMID:34445196|PMID:34490615|PMID:34690748|PMID:34732400|PMID:34782754|PMID:35186329|PMID:35298342|PMID:35350396|PMID:35641312|PMID:35790454|PMID:35860755|PMID:35861376|PMID:36065636|PMID:36342673|PMID:36403551|PMID:36658419|PMID:36703500|PMID:36964972|PMID:37091313|PMID:37184518|PMID:39417332|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:1827	generalized epilepsy		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:18546365|PMID:19478085|PMID:20185557|PMID:25741868|PMID:26224072|PMID:28492532|PMID:34690748
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:1891	optic nerve disease		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:15477547|PMID:15689359|PMID:15824347|PMID:15929042|PMID:16080118|PMID:16177225|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18546343|PMID:18546365|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19251978|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20142534|PMID:20153822|PMID:20438629|PMID:20576279|PMID:20691285|PMID:20818383|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22166854|PMID:22189570|PMID:22616202|PMID:22711370|PMID:22931735|PMID:23212759|PMID:23248042|PMID:23448099|PMID:23808377|PMID:24033266|PMID:24122062|PMID:24725338|PMID:25025039|PMID:25497598|PMID:25585994|PMID:25713120|PMID:25741868|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26467025|PMID:26607151|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27822509|PMID:27838477|PMID:28130605|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30306720|PMID:30423451|PMID:30451971|PMID:30843307|PMID:30860128|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33486010|PMID:33726816|PMID:34052969|PMID:34288125|PMID:34445196|PMID:35298342|PMID:35641312|PMID:35790454|PMID:36342673|PMID:36403551|PMID:37184518
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:1969	cerebral palsy		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:15477547|PMID:15689359|PMID:15824347|PMID:15929042|PMID:16080118|PMID:16177225|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18546343|PMID:18546365|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19251978|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20142534|PMID:20153822|PMID:20438629|PMID:20576279|PMID:20691285|PMID:20818383|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22166854|PMID:22189570|PMID:22616202|PMID:22711370|PMID:22931735|PMID:23212759|PMID:23248042|PMID:23448099|PMID:23808377|PMID:24033266|PMID:24122062|PMID:24725338|PMID:25025039|PMID:25497598|PMID:25585994|PMID:25713120|PMID:25741868|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26467025|PMID:26607151|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27822509|PMID:27838477|PMID:28130605|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30306720|PMID:30423451|PMID:30451971|PMID:30843307|PMID:30860128|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33486010|PMID:33726816|PMID:34052969|PMID:34288125|PMID:34445196|PMID:35298342|PMID:35641312|PMID:35790454|PMID:36342673|PMID:36403551|PMID:37184518
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:2030	anxiety disorder		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16177225|PMID:16368709|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19251978|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20301791|PMID:20438629|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21235791|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:23808377|PMID:24033266|PMID:24122062|PMID:24272679|PMID:24725338|PMID:25025039|PMID:25286830|PMID:25497598|PMID:25585994|PMID:25713120|PMID:25741868|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26467025|PMID:26607151|PMID:26735972|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28130605|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:30860128|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31589614|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34288125|PMID:34445196|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35298342|PMID:35350396|PMID:35641312|PMID:35790454|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36403551|PMID:36658419|PMID:36703500|PMID:37091313|PMID:37184518|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:2234	focal epilepsy		ISO	RGD:732179	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18783964|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21235791|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24725338|PMID:25286830|PMID:25741868|PMID:26104464|PMID:26467025|PMID:26735972|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:31440721|PMID:31589614|PMID:31980526|PMID:33473333|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:2355	anemia		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:15477547|PMID:15689359|PMID:15824347|PMID:15929042|PMID:16080118|PMID:16177225|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18546343|PMID:18546365|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19251978|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20142534|PMID:20153822|PMID:20438629|PMID:20576279|PMID:20691285|PMID:20818383|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22166854|PMID:22189570|PMID:22616202|PMID:22711370|PMID:22931735|PMID:23212759|PMID:23248042|PMID:23448099|PMID:23808377|PMID:24033266|PMID:24122062|PMID:24725338|PMID:25025039|PMID:25497598|PMID:25585994|PMID:25713120|PMID:25741868|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26467025|PMID:26607151|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27822509|PMID:27838477|PMID:28130605|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30306720|PMID:30423451|PMID:30451971|PMID:30843307|PMID:30860128|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33486010|PMID:33726816|PMID:34052969|PMID:34288125|PMID:34445196|PMID:35298342|PMID:35641312|PMID:35790454|PMID:36342673|PMID:36403551|PMID:37184518
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:2377	multiple sclerosis		ISO	RGD:732179	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:	PMID:20837861|REF_RGD_ID:8694283
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:2468	psychotic disorder		ISO	RGD:732179	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18783964|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21235791|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24725338|PMID:25286830|PMID:25741868|PMID:26104464|PMID:26467025|PMID:26735972|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:31440721|PMID:31589614|PMID:31980526|PMID:33473333|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:732179	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30951992|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33473333|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:732179	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30951992|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34690748|PMID:34782754|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:732179	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30951992|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32348839|PMID:32445240|PMID:32502631|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33671400|PMID:33726816|PMID:33791913|PMID:34008892|PMID:34690748|PMID:34782754|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:732179	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:29997391|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30951992|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32348839|PMID:32445240|PMID:32502631|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33671400|PMID:33726816|PMID:33791913|PMID:34008892|PMID:34690748|PMID:34782754|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:732179	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16385454|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:29997391|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30951992|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32348839|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33671400|PMID:33726816|PMID:33791913|PMID:34008892|PMID:34690748|PMID:34782754|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:732179	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25852747|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27917773|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28756246|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29214156|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:29997391|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32165824|PMID:32234506|PMID:32348839|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33671400|PMID:33683010|PMID:33726816|PMID:33791913|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34690748|PMID:34782754|PMID:34927673|PMID:35114397|PMID:35350396|PMID:35478072|PMID:35598585|PMID:35699875|PMID:35799515|PMID:36325100|PMID:36332611|PMID:36987741|PMID:37184518|PMID:37189790|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:732179	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25852747|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27917773|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28756246|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29214156|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:29997391|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32165824|PMID:32234506|PMID:32348839|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33671400|PMID:33683010|PMID:33726816|PMID:33791913|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34690748|PMID:34782754|PMID:34927673|PMID:35114397|PMID:35350396|PMID:35478072|PMID:35598585|PMID:35699875|PMID:35799515|PMID:36325100|PMID:36332611|PMID:36987741|PMID:37091313|PMID:37184518|PMID:37189790|PMID:38294884|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:732179	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:19010300|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20558295|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21138766|PMID:21228000|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24828792|PMID:25118206|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25724872|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25852747|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26341968|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27917773|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28756246|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29214156|PMID:29341116|PMID:29358615|PMID:29420653|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:29997391|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30478137|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31440721|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31921313|PMID:31980526|PMID:32005694|PMID:32165824|PMID:32183364|PMID:32234506|PMID:32348839|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32949115|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33484326|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33671400|PMID:33683010|PMID:33726816|PMID:33763395|PMID:33791913|PMID:33809641|PMID:33956154|PMID:34008892|PMID:34023347|PMID:34052969|PMID:34062649|PMID:34194468|PMID:34426522|PMID:34490615|PMID:34504347|PMID:34504726|PMID:34690748|PMID:34732400|PMID:34782754|PMID:34803902|PMID:34927673|PMID:35114397|PMID:35292633|PMID:35350396|PMID:35478072|PMID:35598585|PMID:35641312|PMID:35699875|PMID:35799515|PMID:35860755|PMID:35861376
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:732179	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:36065636|PMID:36325100|PMID:36332611|PMID:36342673|PMID:36353900|PMID:36658419|PMID:36703500|PMID:36838782|PMID:36918699|PMID:36987741|PMID:37091313|PMID:37168916|PMID:37189790|PMID:37256495|PMID:38012111|PMID:38294884|PMID:38534782|PMID:38772265|PMID:38845467|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia	PMID:11431686|PMID:11555352|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15349879|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16857757|PMID:16896309|PMID:16929381|PMID:16943369|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17846414|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18783964|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20385918|PMID:20513108|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21138766|PMID:21235791|PMID:21357833|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24265579|PMID:24272679|PMID:24508722|PMID:24725338|PMID:25286830|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26341968|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26968897|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28074849|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:29190809|PMID:29358615|PMID:29420653|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30843307|PMID:30936349|PMID:31440721|PMID:31589614|PMID:31645654|PMID:31980526|PMID:32391929|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33484326|PMID:33671400|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34426522|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35641312|PMID:35860755|PMID:35861376|PMID:36065636|PMID:36325100|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:37189790|PMID:37256495|PMID:39417332|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:3070	high grade glioma		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:3312	bipolar disorder		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18783964|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21235791|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24725338|PMID:25286830|PMID:25741868|PMID:26104464|PMID:26467025|PMID:26735972|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:31440721|PMID:31589614|PMID:31980526|PMID:33473333|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:3324	mood disorder		ISO	RGD:732180	D	RGD:9068941	20200609	RGD			PMID:16619054|REF_RGD_ID:8694301
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:3324	mood disorder		ISO	RGD:732180	D	RGD:9068941	20240425	MouseDO			
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:3650	lactic acidosis		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:16621917|PMID:16896309|PMID:19125351|PMID:20601675|PMID:20883824|PMID:25741868|PMID:26640698|PMID:27987238|PMID:28492532|PMID:28815208|PMID:33258288
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:3687	MELAS syndrome		ISO	RGD:732179	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: MELAS syndrome	PMID:18546365|PMID:19251978|PMID:19762913|PMID:21550804|PMID:22189570|PMID:22357363|PMID:25741868|PMID:28492532
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:423	myopathy		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16545482|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:33956154|PMID:34008892|PMID:35350396|PMID:37091313|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:4362	cervical cancer		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:480	movement disease		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:14745080|PMID:17980715|PMID:20185557|PMID:25741868|PMID:27538665|PMID:28130605|PMID:28492532|PMID:29482223|PMID:30818899
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:5082	liver cirrhosis		ISO	RGD:732179	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hepatic fibrosis	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18783964|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20883824|PMID:21235791|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24725338|PMID:25286830|PMID:25741868|PMID:25914719|PMID:26104464|PMID:26467025|PMID:26735972|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:31440721|PMID:31589614|PMID:31980526|PMID:33473333|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35598585|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:539	ophthalmoplegia		ISO	RGD:732179	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ophthalmoparesis | ClinVar Annotator: match by term: ophthalmoparesis	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18783964|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21235791|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24725338|PMID:25286830|PMID:25741868|PMID:26104464|PMID:26467025|PMID:26735972|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:31440721|PMID:31589614|PMID:31980526|PMID:33473333|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:540	strabismus		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16545482|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:33956154|PMID:34008892|PMID:35350396|PMID:37091313|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:732179	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:14635118|PMID:25741868|PMID:27987238
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:25741868|PMID:28492532
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868|PMID:28492532
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:630	genetic disease		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11431686|PMID:11555352|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15349879|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16857757|PMID:16896309|PMID:16929381|PMID:16943369|PMID:16957900|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17576681|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20220442|PMID:20301791|PMID:20385918|PMID:20438629|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20883824|PMID:20981092|PMID:21138766|PMID:21235791|PMID:21236670|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22166854|PMID:22189570|PMID:22215559|PMID:22237560|PMID:22342071|PMID:22470557|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22778364|PMID:22931735|PMID:22995991|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24099403|PMID:24122062|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25129007|PMID:25286830|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26341968|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26968897|PMID:27290639|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28074849|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29190809|PMID:29272804|PMID:29358615|PMID:29420653|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29793804|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30634555|PMID:30678510|PMID:30831263|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31980526|PMID:32161153|PMID:32234506|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32567010|PMID:32613234|PMID:32860008|PMID:32943091|PMID:32964447|PMID:33046616|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33484326|PMID:33486010|PMID:33528536|PMID:33671400|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34194468|PMID:34288125|PMID:34426522|PMID:34445196|PMID:34490615|PMID:34690748|PMID:34732400|PMID:34777884|PMID:34782754|PMID:34986040|PMID:35186329|PMID:35289132|PMID:35298342|PMID:35350396|PMID:35488641|PMID:35641312|PMID:35790454|PMID:35860755|PMID:35861376|PMID:36065636|PMID:36325100|PMID:36342673|PMID:36403551|PMID:36518302|PMID:36658419|PMID:36703500|PMID:36964972|PMID:37091313
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:630	genetic disease		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:37184518|PMID:37189790|PMID:37256495|PMID:38465286|PMID:38605122|PMID:38895864|PMID:39415767|PMID:39417332|PMID:7847370|PMID:9536098
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:6713	cerebrovascular disease		ISO	RGD:732179	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormal cerebral vascular morphology	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18783964|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21235791|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24725338|PMID:25286830|PMID:25741868|PMID:26104464|PMID:26467025|PMID:26735972|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:31440721|PMID:31589614|PMID:31980526|PMID:33473333|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:620057	D	RGD:9068941	20200609	RGD		DNA:SNPs:introns: (rs1061316, rs758130) (human)	PMID:28457473|REF_RGD_ID:15039387
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:732179	D	RGD:9068941	20200609	RGD		DNA:SNPs:introns: (rs1061316, rs758130) (human)	PMID:28457473|REF_RGD_ID:15039387
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:732180	D	RGD:9068941	20200609	RGD		DNA:SNPs:introns: (rs1061316, rs758130) (human)	PMID:28457473|REF_RGD_ID:15039387
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder | ClinVar Annotator: match by term: mitochondrial disorder	PMID:11431686|PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15349879|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16957900|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:17980715|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19221117|PMID:19251978|PMID:19344718|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20301791|PMID:20385918|PMID:20438629|PMID:20513108|PMID:20576279|PMID:20685647|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20837862|PMID:21038416|PMID:21138766|PMID:21235791|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23324391|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23836942|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24265579|PMID:24272679|PMID:24508722|PMID:24725338|PMID:25025039|PMID:25286830|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25906927|PMID:25940035|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30678510|PMID:30843307|PMID:30860128|PMID:30894134|PMID:30936349|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31589614|PMID:31645654|PMID:31980526|PMID:32234506|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32964447|PMID:32983930|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34288125|PMID:34445196|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35298342|PMID:35350396|PMID:35641312|PMID:35790454|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36403551|PMID:36658419|PMID:36703500|PMID:37091313|PMID:37184518|PMID:39417332|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:767	muscular atrophy		ISO	RGD:732179	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18783964|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20883824|PMID:21235791|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24725338|PMID:25286830|PMID:25741868|PMID:25914719|PMID:26104464|PMID:26467025|PMID:26735972|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:31440721|PMID:31589614|PMID:31980526|PMID:33473333|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35598585|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:7998	hyperthyroidism		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:890	mitochondrial encephalomyopathy		ISO	RGD:732179	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:p.N846S, p.P587L(human)	PMID:12825077|REF_RGD_ID:8694177
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:8927	learning disability		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:11431686|PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16639411|PMID:17418573|PMID:18195149|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:20601675|PMID:21138766|PMID:21880868|PMID:22006280|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24288107|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30634555|PMID:30936349|PMID:31521625|PMID:31645654|PMID:32567010|PMID:32860008|PMID:33396418|PMID:33956154|PMID:34008892|PMID:35350396|PMID:36703500|PMID:37091313|PMID:38605122|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:28492532
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:11431686|PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15349879|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17418573|PMID:17426723|PMID:17438011|PMID:18195149|PMID:18195151|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18783964|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20385918|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21138766|PMID:21235791|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23324391|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24508722|PMID:24725338|PMID:25286830|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30634555|PMID:30843307|PMID:30936349|PMID:31440721|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31980526|PMID:32567010|PMID:32860008|PMID:33396418|PMID:33473333|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:38605122|PMID:39417332|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9000307	Presbycusis		ISO	RGD:732180	D	RGD:9068941	20200609	RGD			PMID:21664445|REF_RGD_ID:8694161
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9000495	Tremor		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:11431686|PMID:16368709|PMID:16639411|PMID:18195149|PMID:20601675|PMID:21880868|PMID:22006280|PMID:24288107|PMID:25741868|PMID:26095671|PMID:28492532|PMID:30634555|PMID:31521625|PMID:32567010|PMID:32860008|PMID:36703500|PMID:38605122
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9000727	Syncope		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:28492532
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:18195149|PMID:19251978|PMID:19478085|PMID:20818383|PMID:21824913|PMID:22189570|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29655203|PMID:35186329|PMID:35861376|PMID:36964972
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9001031	Retrognathia		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16545482|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:33956154|PMID:34008892|PMID:35350396|PMID:37091313|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9001263	Mitochondrial DNA Depletion Syndrome, MNGIE Type		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION	PMID:11431686|PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:14745080|PMID:15349879|PMID:1539879|PMID:15477547|PMID:15689359|PMID:1582434|PMID:15824347|PMID:15929042|PMID:16080118|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18195149|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19478085|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20142534|PMID:20153822|PMID:20385918|PMID:20438629|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:21138766|PMID:21236670|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21824913|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22616202|PMID:22711370|PMID:22863191|PMID:22931735|PMID:23212759|PMID:23248042|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24265579|PMID:24288107|PMID:24508722|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26607151|PMID:26742794|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28776642|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29655203|PMID:29793804|PMID:29920680|PMID:30021052|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30634555|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:31147703|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31521625|PMID:31645654|PMID:31980526|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32567010|PMID:32613234|PMID:32860008|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33486010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34288125|PMID:34426522|PMID:34445196|PMID:34986040|PMID:35186329|PMID:35298342|PMID:35350396|PMID:35641312|PMID:35790454|PMID:35861376|PMID:36325100|PMID:36342673|PMID:36403551|PMID:36703223|PMID:36703500|PMID:36964972|PMID:37091313|PMID:37184518|PMID:38434220|PMID:38605122|PMID:38895864|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:11431686|PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16639411|PMID:17418573|PMID:18195149|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:20601675|PMID:21138766|PMID:21880868|PMID:22006280|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24288107|PMID:24508722|PMID:25286830|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30634555|PMID:30936349|PMID:31521625|PMID:31645654|PMID:32567010|PMID:32860008|PMID:33396418|PMID:33956154|PMID:34008892|PMID:35350396|PMID:36703500|PMID:37091313|PMID:38605122|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9001581	Constipation		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:26467025
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9001648	Methylenetetrahydrofolate Reductase Deficiency		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia	PMID:26467025
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9001722	Dysarthria		ISO	RGD:732179	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:11431686|PMID:16368709|PMID:16639411|PMID:18195149|PMID:20601675|PMID:21880868|PMID:22006280|PMID:24288107|PMID:25741868|PMID:26095671|PMID:28492532|PMID:30634555|PMID:31521625|PMID:32567010|PMID:32860008|PMID:36703500|PMID:38605122
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9001733	Tinnitus		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:15477547|PMID:15689359|PMID:15824347|PMID:15929042|PMID:16080118|PMID:16177225|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18546343|PMID:18546365|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19251978|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20142534|PMID:20153822|PMID:20438629|PMID:20576279|PMID:20691285|PMID:20818383|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22166854|PMID:22189570|PMID:22616202|PMID:22711370|PMID:22931735|PMID:23212759|PMID:23248042|PMID:23448099|PMID:23808377|PMID:24033266|PMID:24122062|PMID:24725338|PMID:25025039|PMID:25497598|PMID:25585994|PMID:25713120|PMID:25741868|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26467025|PMID:26607151|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27822509|PMID:27838477|PMID:28130605|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30306720|PMID:30423451|PMID:30451971|PMID:30843307|PMID:30860128|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33486010|PMID:33726816|PMID:34052969|PMID:34288125|PMID:34445196|PMID:35298342|PMID:35641312|PMID:35790454|PMID:36342673|PMID:36403551|PMID:37184518
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9002134	Heart Murmurs		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:26467025
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9002375	Childhood Myocerebrohepatopathy Spectrum		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Childhood myocerebrohepatopathy spectrum	PMID:12707443|PMID:16621917|PMID:18487244|PMID:18546365|PMID:19752458|PMID:20185557|PMID:20301791|PMID:21305355|PMID:21880868|PMID:22189570|PMID:23208208|PMID:24265579|PMID:25741868|PMID:27111573|PMID:28471437|PMID:28492532|PMID:29655203|PMID:30021052|PMID:30167885|PMID:33562887
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9002563	Gait Ataxia		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:15477547|PMID:15689359|PMID:15824347|PMID:15929042|PMID:16080118|PMID:16177225|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18546343|PMID:18546365|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19251978|PMID:19478085|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20438629|PMID:20576279|PMID:20691285|PMID:20818383|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22166854|PMID:22189570|PMID:22616202|PMID:22711370|PMID:22931735|PMID:23212759|PMID:23248042|PMID:23448099|PMID:23808377|PMID:24033266|PMID:24122062|PMID:24725338|PMID:25025039|PMID:25497598|PMID:25585994|PMID:25713120|PMID:25741868|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26467025|PMID:26607151|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27822509|PMID:27838477|PMID:28130605|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30306720|PMID:30423451|PMID:30451971|PMID:30843307|PMID:30860128|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33486010|PMID:33726816|PMID:34052969|PMID:34288125|PMID:34445196|PMID:34690748|PMID:35298342|PMID:35641312|PMID:35790454|PMID:36342673|PMID:36403551|PMID:37184518
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9002644	Premature Aging		ISO	RGD:732180	D	RGD:9068941	20200609	RGD			PMID:15164064|REF_RGD_ID:8694320
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment | ClinVar Annotator: match by term: Mental deterioration	PMID:11431686|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15349879|PMID:15477547|PMID:15689359|PMID:15800909|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16177225|PMID:16368709|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20301791|PMID:20385918|PMID:20438629|PMID:20513108|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20883824|PMID:21138766|PMID:21235791|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22470557|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23324391|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23921535|PMID:24033266|PMID:24099403|PMID:24122062|PMID:24272679|PMID:24508722|PMID:24725338|PMID:25025039|PMID:25286830|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25914719|PMID:25940035|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31589614|PMID:31645654|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:33956154|PMID:34052969|PMID:34062649|PMID:34288125|PMID:34445196|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35186329|PMID:35298342|PMID:35350396|PMID:35598585|PMID:35641312|PMID:35790454|PMID:35860755|PMID:35861376|PMID:36065636|PMID:36342673|PMID:36403551|PMID:36658419|PMID:36703500|PMID:36964972|PMID:37091313|PMID:37184518|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9003132	Sialorrhea		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16545482|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:33956154|PMID:34008892|PMID:35350396|PMID:37091313|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9003539	Hyperacusis		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868|PMID:28492532
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9003816	Macrocephaly		ISO	RGD:732179	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18783964|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21235791|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24725338|PMID:25286830|PMID:25741868|PMID:26104464|PMID:26467025|PMID:26735972|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:31440721|PMID:31589614|PMID:31980526|PMID:33473333|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9004538	Hearing Loss		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:15477547|PMID:15689359|PMID:15824347|PMID:15929042|PMID:16080118|PMID:16177225|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18546343|PMID:18546365|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19251978|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20142534|PMID:20153822|PMID:20438629|PMID:20576279|PMID:20691285|PMID:20818383|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22166854|PMID:22189570|PMID:22616202|PMID:22711370|PMID:22931735|PMID:23212759|PMID:23248042|PMID:23448099|PMID:23808377|PMID:24033266|PMID:24122062|PMID:24725338|PMID:25025039|PMID:25497598|PMID:25585994|PMID:25713120|PMID:25741868|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26467025|PMID:26607151|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27822509|PMID:27838477|PMID:28130605|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30306720|PMID:30423451|PMID:30451971|PMID:30843307|PMID:30860128|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33486010|PMID:33726816|PMID:34052969|PMID:34288125|PMID:34445196|PMID:35298342|PMID:35641312|PMID:35790454|PMID:36342673|PMID:36403551|PMID:37184518
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:732179	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acute liver failure	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18783964|PMID:19125351|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20883824|PMID:21235791|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24725338|PMID:25286830|PMID:25741868|PMID:26104464|PMID:26467025|PMID:26640698|PMID:26735972|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:28815208|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:31440721|PMID:31589614|PMID:31980526|PMID:33258288|PMID:33473333|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9004866	Ataxia		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Sensory ataxia	PMID:11431686|PMID:11571332|PMID:12565911|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18783964|PMID:19251978|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20185557|PMID:20301791|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21235791|PMID:21276947|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24725338|PMID:25286830|PMID:25741868|PMID:26104464|PMID:26224072|PMID:26467025|PMID:26735972|PMID:26942291|PMID:26942292|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:31440721|PMID:31589614|PMID:31980526|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34690748|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332|PMID:632821
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9004866	Ataxia		ISO	RGD:732179	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Sensory ataxia | ClinVar Annotator: match by term: ataxia	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18783964|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20185557|PMID:20301791|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21235791|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24725338|PMID:25286830|PMID:25741868|PMID:26104464|PMID:26224072|PMID:26467025|PMID:26735972|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:31440721|PMID:31589614|PMID:31980526|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34690748|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9004866	Ataxia		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Sensory ataxia | ClinVar Annotator: match by term: ataxia	PMID:11431686|PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15349879|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20301791|PMID:20385918|PMID:20438629|PMID:20513108|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21138766|PMID:21235791|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23324391|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24265579|PMID:24272679|PMID:24508722|PMID:24725338|PMID:25025039|PMID:25286830|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31589614|PMID:31645654|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34288125|PMID:34445196|PMID:34490615|PMID:34690748|PMID:34732400|PMID:34782754|PMID:35298342|PMID:35350396|PMID:35641312|PMID:35790454|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36403551|PMID:36658419|PMID:36703500|PMID:37091313|PMID:37184518|PMID:39417332|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9005077	Joint Instability		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:732179	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperreflexia | ClinVar Annotator: match by term: Hyporeflexia	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18783964|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21235791|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24725338|PMID:25286830|PMID:25741868|PMID:26104464|PMID:26467025|PMID:26735972|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:31440721|PMID:31589614|PMID:31980526|PMID:33473333|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9005532	Muscle Weakness		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle weakness | ClinVar Annotator: match by term: Progressive muscle weakness	PMID:11431686|PMID:16368709|PMID:16639411|PMID:18195149|PMID:19251978|PMID:19478085|PMID:20601675|PMID:20818383|PMID:21824913|PMID:21880868|PMID:22006280|PMID:22189570|PMID:24288107|PMID:25741868|PMID:26095671|PMID:26467025|PMID:28492532|PMID:29655203|PMID:30634555|PMID:31521625|PMID:32567010|PMID:32860008|PMID:35186329|PMID:35861376|PMID:36703500|PMID:36964972|PMID:38605122
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:11431686|PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15800909|PMID:15824347|PMID:15929042|PMID:16080118|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18546343|PMID:18546365|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20385918|PMID:20438629|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20883824|PMID:21138766|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22470557|PMID:22616202|PMID:22711370|PMID:22931735|PMID:23212759|PMID:23248042|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23921535|PMID:24033266|PMID:24099403|PMID:24122062|PMID:24265579|PMID:24288107|PMID:24508722|PMID:24725338|PMID:25025039|PMID:25286830|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26607151|PMID:26742794|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30634555|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31521625|PMID:31645654|PMID:31980526|PMID:32445240|PMID:32567010|PMID:32860008|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33486010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34288125|PMID:34445196|PMID:35298342|PMID:35350396|PMID:35641312|PMID:35790454|PMID:36342673|PMID:36403551|PMID:36703500|PMID:37091313|PMID:37184518|PMID:38605122|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620057	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter:	PMID:22743328|REF_RGD_ID:8694093
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:732180	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:retina,mitochondrion:	PMID:22229649|REF_RGD_ID:8694187
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9005815	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive progressive external ophthalmoplegia	PMID:14635118|PMID:16919951|PMID:20185557|PMID:21357833|PMID:21550804|PMID:21880868|PMID:25741868|PMID:28471437|PMID:28492532
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9006076	Epilepsia Partialis Continua		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsia partialis continua	PMID:15477547|PMID:15689359|PMID:15824347|PMID:15929042|PMID:16080118|PMID:16177225|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18546343|PMID:18546365|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19251978|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20142534|PMID:20153822|PMID:20438629|PMID:20576279|PMID:20691285|PMID:20818383|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22166854|PMID:22189570|PMID:22616202|PMID:22711370|PMID:22931735|PMID:23212759|PMID:23248042|PMID:23448099|PMID:23808377|PMID:24033266|PMID:24122062|PMID:24725338|PMID:25025039|PMID:25497598|PMID:25585994|PMID:25713120|PMID:25741868|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26467025|PMID:26607151|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27822509|PMID:27838477|PMID:28130605|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30306720|PMID:30423451|PMID:30451971|PMID:30843307|PMID:30860128|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33486010|PMID:33726816|PMID:34052969|PMID:34288125|PMID:34445196|PMID:35298342|PMID:35641312|PMID:35790454|PMID:36342673|PMID:36403551|PMID:37184518
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9006476	Spinocerebellar Ataxia with Epilepsy		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia with epilepsy	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:1582434|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16177225|PMID:16368709|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19251978|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20301791|PMID:20438629|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21235791|PMID:21236670|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:23808377|PMID:24033266|PMID:24122062|PMID:24272679|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25286830|PMID:25497598|PMID:25585994|PMID:25713120|PMID:25741868|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26467025|PMID:26607151|PMID:26735972|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28130605|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:30860128|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31589614|PMID:31980526|PMID:32391929|PMID:32445240|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34288125|PMID:34445196|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35186329|PMID:35298342|PMID:35350396|PMID:35641312|PMID:35790454|PMID:35860755|PMID:35861376|PMID:36065636|PMID:36342673|PMID:36403551|PMID:36658419|PMID:36703500|PMID:36964972|PMID:37091313|PMID:37184518|PMID:38434220|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15929042|PMID:16080118|PMID:16177225|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18546343|PMID:18546365|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20142534|PMID:20153822|PMID:20385918|PMID:20438629|PMID:20513108|PMID:20576279|PMID:20691285|PMID:20818383|PMID:21138766|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22166854|PMID:22189570|PMID:22616202|PMID:22711370|PMID:22931735|PMID:23212759|PMID:23248042|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24265579|PMID:24508722|PMID:24725338|PMID:25025039|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26607151|PMID:26742794|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31645654|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33486010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34288125|PMID:34445196|PMID:35298342|PMID:35350396|PMID:35641312|PMID:35790454|PMID:36342673|PMID:36403551|PMID:37091313|PMID:37184518|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9006617	Fatigue		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:26467025
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9006878	Exercise Intolerance		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exercise intolerance	PMID:26467025
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:732179	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18208989|PMID:20138553
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	no_association	ISO	RGD:620057	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.Q1236H, p.E1143G (33708G>T, 3428A>G) (human)	PMID:30255931|REF_RGD_ID:15039297
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	no_association	ISO	RGD:732179	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.Q1236H, p.E1143G (33708G>T, 3428A>G) (human)	PMID:30255931|REF_RGD_ID:15039297
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	no_association	ISO	RGD:732180	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.Q1236H, p.E1143G (33708G>T, 3428A>G) (human)	PMID:30255931|REF_RGD_ID:15039297
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	susceptibility	ISO	RGD:620057	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.W748S, p.E1143G (2243G>C, 3428A>G) (human)	PMID:25065347|REF_RGD_ID:15039302
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	susceptibility	ISO	RGD:732179	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.W748S, p.E1143G (2243G>C, 3428A>G) (human)	PMID:25065347|REF_RGD_ID:15039302
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	susceptibility	ISO	RGD:732180	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.W748S, p.E1143G (2243G>C, 3428A>G) (human)	PMID:25065347|REF_RGD_ID:15039302
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:26467025
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9007573	Flatfoot		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:26467025
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9007661	Dwarfism		ISO	RGD:732179	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17426723|PMID:17438011|PMID:18195149|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18783964|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20883824|PMID:21235791|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24288107|PMID:24725338|PMID:25286830|PMID:25741868|PMID:25914719|PMID:26095671|PMID:26104464|PMID:26467025|PMID:26735972|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30634555|PMID:30843307|PMID:31440721|PMID:31521625|PMID:31589614|PMID:31980526|PMID:32567010|PMID:32860008|PMID:33473333|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35598585|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:38605122|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9007722	Myoclonus		ISO	RGD:732179	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18783964|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21235791|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24725338|PMID:25286830|PMID:25741868|PMID:26104464|PMID:26467025|PMID:26735972|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:31440721|PMID:31589614|PMID:31980526|PMID:33473333|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9007736	Vertigo		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18783964|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21235791|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24725338|PMID:25286830|PMID:25741868|PMID:26104464|PMID:26467025|PMID:26735972|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:31440721|PMID:31589614|PMID:31980526|PMID:33473333|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008023	Memory Disorders		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:18195149|PMID:19251978|PMID:19478085|PMID:20818383|PMID:21824913|PMID:22189570|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29655203|PMID:35186329|PMID:35861376|PMID:36964972
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732179	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:11431686|PMID:12210792|PMID:12872260|PMID:15349879|PMID:15689359|PMID:15929042|PMID:16177225|PMID:16368709|PMID:16639411|PMID:17426723|PMID:17980715|PMID:18195149|PMID:18500570|PMID:18546365|PMID:18828154|PMID:19307547|PMID:19478085|PMID:20185557|PMID:20301791|PMID:20513108|PMID:20601675|PMID:20818383|PMID:21228000|PMID:21670405|PMID:21880868|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:23448099|PMID:24272679|PMID:24288107|PMID:25585994|PMID:25741868|PMID:26095671|PMID:26224072|PMID:26467025|PMID:28471437|PMID:28480171|PMID:28492532|PMID:29655203|PMID:30423451|PMID:30451971|PMID:30552426|PMID:30634555|PMID:31521625|PMID:32567010|PMID:32860008|PMID:33486010|PMID:33791913|PMID:34690748|PMID:34782754|PMID:36703500|PMID:38605122
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11431686|PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15929042|PMID:16080118|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18195149|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18546343|PMID:18546365|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19478085|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20385918|PMID:20438629|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:21138766|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22616202|PMID:22711370|PMID:22931735|PMID:23212759|PMID:23248042|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24265579|PMID:24288107|PMID:24508722|PMID:24725338|PMID:25025039|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26607151|PMID:26742794|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30634555|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31521625|PMID:31645654|PMID:31980526|PMID:32445240|PMID:32567010|PMID:32860008|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33486010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34288125|PMID:34445196|PMID:34690748|PMID:35298342|PMID:35350396|PMID:35641312|PMID:35790454|PMID:36342673|PMID:36403551|PMID:36703500|PMID:37091313|PMID:37184518|PMID:38605122|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008214	Genu Valgum		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:26467025
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008305	Talipes Cavus		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:11431686|PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15349879|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17418573|PMID:17426723|PMID:17438011|PMID:18195151|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18783964|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20385918|PMID:20513108|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21138766|PMID:21235791|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23324391|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24265579|PMID:24272679|PMID:24508722|PMID:24725338|PMID:25286830|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30843307|PMID:30936349|PMID:31440721|PMID:31589614|PMID:31645654|PMID:31980526|PMID:33396418|PMID:33473333|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008385	Vomiting		ISO	RGD:732179	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:11431686|PMID:16368709|PMID:16639411|PMID:18195149|PMID:20601675|PMID:21880868|PMID:22006280|PMID:24288107|PMID:25741868|PMID:26095671|PMID:28492532|PMID:30634555|PMID:31521625|PMID:32567010|PMID:32860008|PMID:36703500|PMID:38605122
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:732179	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29997391|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31085725|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32165824|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33600046|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:732179	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27111573|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29913018|PMID:29920680|PMID:29997391|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:31085725|PMID:31164858|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32019516|PMID:32042919|PMID:32234506|PMID:32305867|PMID:32391929|PMID:32445240|PMID:32567010|PMID:32613234|PMID:33233646|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33600046|PMID:33683010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:732179	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5	PMID:34062649|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34782754|PMID:34927673|PMID:35114397|PMID:35307828|PMID:35350396|PMID:35699875|PMID:35799515|PMID:35861376|PMID:36325100|PMID:36332611|PMID:36703223|PMID:36987741|PMID:37184518|PMID:37189790|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:732179	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5	PMID:33683010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34782754|PMID:34927673|PMID:35114397|PMID:35307828|PMID:35350396|PMID:35699875|PMID:35799515|PMID:35861376|PMID:36325100|PMID:36332611|PMID:36703223|PMID:36987741|PMID:37184518|PMID:37189790|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:732179	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27111573|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29913018|PMID:29920680|PMID:29997391|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:31085725|PMID:31164858|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32019516|PMID:32042919|PMID:32234506|PMID:32305867|PMID:32391929|PMID:32445240|PMID:32567010|PMID:32613234|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33600046
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:732179	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5	PMID:33683010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34782754|PMID:34927673|PMID:35114397|PMID:35307828|PMID:35350396|PMID:35699875|PMID:35799515|PMID:35861376|PMID:36325100|PMID:36332611|PMID:36703223|PMID:36987741|PMID:37091313|PMID:37184518|PMID:37189790|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:732179	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16919951|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27111573|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29913018|PMID:29920680|PMID:29997391|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:31085725|PMID:31164858|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32019516|PMID:32042919|PMID:32234506|PMID:32305867|PMID:32391929|PMID:32445240|PMID:32567010|PMID:32613234|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:732179	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5	PMID:33600046|PMID:33683010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34782754|PMID:34927673|PMID:35114397|PMID:35186329|PMID:35307828|PMID:35350396|PMID:35699875|PMID:35799515|PMID:35861376|PMID:36325100|PMID:36332611|PMID:36703223|PMID:36987741|PMID:37091313|PMID:37184518|PMID:37189790|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:732179	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15800909|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16919951|PMID:16940310|PMID:16957900|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22277967|PMID:22342071|PMID:22357363|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24986207|PMID:25025039|PMID:25118206|PMID:25129007|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25852747|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27101133|PMID:27111573|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27854218|PMID:27917773|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28756246|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28865037|PMID:28958595|PMID:29029963|PMID:29214156|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29590070|PMID:29655203|PMID:29913018|PMID:29920680|PMID:29992832|PMID:29997391|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:732179	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5	PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30678510|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31694722|PMID:31765440|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32165824|PMID:32234506|PMID:32305867|PMID:32348839|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32567010|PMID:32613234|PMID:32949115|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33600046|PMID:33683010|PMID:33726816|PMID:33763395|PMID:33791913|PMID:33956154|PMID:34008892|PMID:34023347|PMID:34052969|PMID:34062649|PMID:34194468|PMID:34288125|PMID:34426522|PMID:34445196|PMID:34490615|PMID:34504347|PMID:34504726|PMID:34670123|PMID:34690748|PMID:34732400|PMID:34782754|PMID:34803902|PMID:34927673|PMID:35114397|PMID:35186329|PMID:35289132|PMID:35298342|PMID:35307828|PMID:35350396|PMID:35478072|PMID:35598585|PMID:35641312|PMID:35699875|PMID:35790454|PMID:35799515|PMID:35860755|PMID:35861376|PMID:36065636|PMID:36325100|PMID:36332611|PMID:36342673|PMID:36403551|PMID:36658419|PMID:36703223|PMID:36703500|PMID:36918699|PMID:36964972|PMID:36987741|PMID:37091313|PMID:37168916|PMID:37184518|PMID:37189790|PMID:37256495|PMID:37349538|PMID:38012111|PMID:38294884|PMID:38772265|PMID:38845467|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:732179	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5	PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30678510|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31694722|PMID:31765440|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32165824|PMID:32234506|PMID:32305867|PMID:32348839|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32567010|PMID:32613234|PMID:32949115|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33600046|PMID:33683010|PMID:33726816|PMID:33763395|PMID:33791913|PMID:33956154|PMID:34008892|PMID:34023347|PMID:34052969|PMID:34062649|PMID:34194468|PMID:34288125|PMID:34426522|PMID:34445196|PMID:34490615|PMID:34504347|PMID:34504726|PMID:34670123|PMID:34690748|PMID:34732400|PMID:34782754|PMID:34803902|PMID:34927673|PMID:35114397|PMID:35186329|PMID:35289132|PMID:35298342|PMID:35307828|PMID:35350396|PMID:35478072|PMID:35598585|PMID:35641312|PMID:35699875|PMID:35790454|PMID:35799515|PMID:35860755|PMID:35861376|PMID:36065636|PMID:36325100|PMID:36332611|PMID:36342673|PMID:36403551|PMID:36658419|PMID:36703223|PMID:36703500|PMID:36918699|PMID:36964972|PMID:36987741|PMID:37091313|PMID:37168916|PMID:37184518|PMID:37189790|PMID:37256495|PMID:37349538|PMID:38012111|PMID:38294884|PMID:38772265|PMID:38845467|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:732179	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15800909|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16919951|PMID:16940310|PMID:16957900|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22277967|PMID:22342071|PMID:22357363|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24986207|PMID:25025039|PMID:25118206|PMID:25129007|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25852747|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27101133|PMID:27111573|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27917773|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28756246|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28865037|PMID:28958595|PMID:29029963|PMID:29214156|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29590070|PMID:29655203|PMID:29913018|PMID:29920680|PMID:29992832|PMID:29997391|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:732179	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5	PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30678510|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31147703|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31694722|PMID:31765440|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32165824|PMID:32234506|PMID:32305867|PMID:32348839|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32567010|PMID:32613234|PMID:32949115|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33600046|PMID:33683010|PMID:33726816|PMID:33763395|PMID:33791913|PMID:33956154|PMID:34008892|PMID:34023347|PMID:34052969|PMID:34062649|PMID:34194468|PMID:34288125|PMID:34426522|PMID:34445196|PMID:34490615|PMID:34504347|PMID:34504726|PMID:34670123|PMID:34690748|PMID:34732400|PMID:34755241|PMID:34782754|PMID:34803902|PMID:34927673|PMID:35114397|PMID:35186329|PMID:35289132|PMID:35298342|PMID:35307828|PMID:35350396|PMID:35478072|PMID:35598585|PMID:35641312|PMID:35699875|PMID:35790454|PMID:35799515|PMID:35860755|PMID:35861376|PMID:36065636|PMID:36325100|PMID:36332611|PMID:36342673|PMID:36403551|PMID:36658419|PMID:36703223|PMID:36703500|PMID:36732629|PMID:36918699|PMID:36964972|PMID:36987741|PMID:37084649|PMID:37091313|PMID:37168916|PMID:37184518|PMID:37189790|PMID:37256495|PMID:37349538|PMID:38012111|PMID:38294884|PMID:38772265|PMID:38845467|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:732179	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15800909|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16919951|PMID:16940310|PMID:16957900|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20558295|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22277967|PMID:22342071|PMID:22357363|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24828792|PMID:24986207|PMID:25025039|PMID:25118206|PMID:25129007|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25724872|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25852747|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27101133|PMID:27111573|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27917773|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28756246|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28865037|PMID:28958595|PMID:29029963|PMID:29214156|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29590070|PMID:29655203|PMID:29913018|PMID:29920680|PMID:29992832|PMID:29997391|PMID:30021052|PMID:30167885
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:732179	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5	PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30478137|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30678510|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31147703|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31694722|PMID:31765440|PMID:31921313|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32165824|PMID:32183364|PMID:32234506|PMID:32305867|PMID:32348839|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32567010|PMID:32613234|PMID:32949115|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33600046|PMID:33683010|PMID:33726816|PMID:33763395|PMID:33791913|PMID:33809641|PMID:33956154|PMID:34008892|PMID:34023347|PMID:34052969|PMID:34062649|PMID:34194468|PMID:34288125|PMID:34426522|PMID:34445196|PMID:34490615|PMID:34504347|PMID:34504726|PMID:34670123|PMID:34690748|PMID:34732400|PMID:34755241|PMID:34782754|PMID:34803902|PMID:34927673|PMID:35114397|PMID:35186329|PMID:35289132|PMID:35292633|PMID:35298342|PMID:35307828|PMID:35350396|PMID:35478072|PMID:35598585|PMID:35641312|PMID:35699875|PMID:35790454|PMID:35799515|PMID:35860755|PMID:35861376|PMID:36065636|PMID:36325100|PMID:36332611|PMID:36342673|PMID:36353900|PMID:36403551|PMID:36658419|PMID:36703223|PMID:36703500|PMID:36732629|PMID:36838782|PMID:36918699|PMID:36964972|PMID:36987741|PMID:37084649|PMID:37091313|PMID:37168916|PMID:37184518|PMID:37189790|PMID:37256495|PMID:37349538|PMID:38012111|PMID:38294884|PMID:38534782|PMID:38772265|PMID:38845467|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:732179	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5	PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15800909|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16919951|PMID:16940310|PMID:16957900|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20558295|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:21138766|PMID:21228000|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22357363|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24828792|PMID:24986207|PMID:25025039|PMID:25118206|PMID:25129007|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25724872|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25852747|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27111573|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27917773|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28756246|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28865037|PMID:28958595|PMID:29029963|PMID:29214156|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29920680|PMID:29992832|PMID:29997391|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30478137|PMID:30487145|PMID:30609409|PMID:30637288
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:732179	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5	PMID:30678510|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31147703|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31765440|PMID:31921313|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32165824|PMID:32183364|PMID:32234506|PMID:32305867|PMID:32348839|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32567010|PMID:32613234|PMID:32949115|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33683010|PMID:33726816|PMID:33763395|PMID:33791913|PMID:33809641|PMID:33956154|PMID:34008892|PMID:34023347|PMID:34052969|PMID:34062649|PMID:34194468|PMID:34288125|PMID:34426522|PMID:34445196|PMID:34490615|PMID:34504347|PMID:34504726|PMID:34690748|PMID:34732400|PMID:34782754|PMID:34803902|PMID:34927673|PMID:35114397|PMID:35186329|PMID:35289132|PMID:35292633|PMID:35298342|PMID:35307828|PMID:35350396|PMID:35478072|PMID:35598585|PMID:35641312|PMID:35699875|PMID:35790454|PMID:35799515|PMID:35860755|PMID:35861376|PMID:36065636|PMID:36325100|PMID:36332611|PMID:36342673|PMID:36353900|PMID:36403551|PMID:36658419|PMID:36703223|PMID:36703500|PMID:36838782|PMID:36918699|PMID:36964972|PMID:36987741|PMID:37091313|PMID:37168916|PMID:37184518|PMID:37189790|PMID:37256495|PMID:38012111|PMID:38294884|PMID:38534782|PMID:38772265|PMID:38845467|PMID:632821|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5	PMID:11431686|PMID:11571332|PMID:12565911|PMID:12707443|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16919951|PMID:16957900|PMID:17280874|PMID:17426723|PMID:17438011|PMID:17538929|PMID:17576681|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19195941|PMID:19251978|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20185557|PMID:20220442|PMID:20301791|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20883824|PMID:21138766|PMID:21235791|PMID:21276947|PMID:21282586|PMID:21305355|PMID:21357833|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22084276|PMID:22189570|PMID:22342071|PMID:22470557|PMID:22616202|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23077218|PMID:23208208|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23545419|PMID:23783014|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24099403|PMID:24122062|PMID:24265579|PMID:24272679|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25129007|PMID:25286830|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25741868|PMID:25850945|PMID:26077851|PMID:26104464|PMID:26467025|PMID:26557169|PMID:26735972|PMID:26942291|PMID:26942292|PMID:27349602|PMID:27422324|PMID:27450679|PMID:27987238|PMID:28130605|PMID:28337550|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28865037|PMID:29302508|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:29793804|PMID:29915382|PMID:30167885|PMID:30369941|PMID:30385167|PMID:30423451|PMID:30451971|PMID:30678510|PMID:30818899|PMID:30843307|PMID:30941926|PMID:31147703|PMID:31440721|PMID:31589614|PMID:31980526|PMID:32042919|PMID:32391929|PMID:32502631|PMID:32613234|PMID:32703289|PMID:33046616|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33528536|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34426522|PMID:34490615|PMID:34690748|PMID:34732400|PMID:34777884|PMID:34782754|PMID:34986040|PMID:35289132|PMID:35307828|PMID:35350396|PMID:35641312|PMID:35860755|PMID:35861376|PMID:36065636|PMID:36325100|PMID:36342673|PMID:36518302|PMID:36658419|PMID:36703223|PMID:36703500|PMID:37091313|PMID:38434220|PMID:38895864|PMID:39417332|PMID:632821|PMID:9536098
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:732179	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5	PMID:11431686|PMID:12707443|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16919951|PMID:16957900|PMID:17426723|PMID:17438011|PMID:17538929|PMID:17576681|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19195941|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20185557|PMID:20220442|PMID:20301791|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20883824|PMID:21138766|PMID:21235791|PMID:21282586|PMID:21305355|PMID:21357833|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22084276|PMID:22189570|PMID:22342071|PMID:22470557|PMID:22616202|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23208208|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23545419|PMID:23783014|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24099403|PMID:24122062|PMID:24265579|PMID:24272679|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25129007|PMID:25286830|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25741868|PMID:25850945|PMID:26077851|PMID:26104464|PMID:26467025|PMID:26557169|PMID:26735972|PMID:26942291|PMID:27349602|PMID:27422324|PMID:27450679|PMID:27987238|PMID:28130605|PMID:28337550|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28865037|PMID:29302508|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:29793804|PMID:29915382|PMID:30167885|PMID:30369941|PMID:30385167|PMID:30423451|PMID:30451971|PMID:30678510|PMID:30818899|PMID:30843307|PMID:30941926|PMID:31147703|PMID:31440721|PMID:31589614|PMID:31980526|PMID:32042919|PMID:32391929|PMID:32502631|PMID:32613234|PMID:32703289|PMID:33046616|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33528536|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34426522|PMID:34490615|PMID:34690748|PMID:34732400|PMID:34777884|PMID:34782754|PMID:34986040|PMID:35289132|PMID:35307828|PMID:35350396|PMID:35641312|PMID:35860755|PMID:35861376|PMID:36065636|PMID:36325100|PMID:36342673|PMID:36518302|PMID:36658419|PMID:36703223|PMID:36703500|PMID:37091313|PMID:38434220|PMID:38895864|PMID:39417332|PMID:9536098
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5	PMID:11431686|PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15349879|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16919951|PMID:16957900|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17576681|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20185557|PMID:20220442|PMID:20301791|PMID:20385918|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20883824|PMID:21138766|PMID:21235791|PMID:21305355|PMID:21357833|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21953457|PMID:21993618|PMID:22006280|PMID:22084276|PMID:22189570|PMID:22342071|PMID:22470557|PMID:22616202|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23208208|PMID:23212759|PMID:23250882|PMID:23324391|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24099403|PMID:24122062|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25129007|PMID:25286830|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26735972|PMID:26742794|PMID:26942291|PMID:27349602|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28074849|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28865037|PMID:29302508|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:29793804|PMID:29915382|PMID:30167885|PMID:30369941|PMID:30385167|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30634555|PMID:30678510|PMID:30818899|PMID:30843307|PMID:30936349|PMID:30941926|PMID:31147703|PMID:31164858|PMID:31440721|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31980526|PMID:32234506|PMID:32391929|PMID:32502631|PMID:32567010|PMID:32613234|PMID:32703289|PMID:32860008|PMID:33046616|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33528536|PMID:33671400|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34362006|PMID:34426522|PMID:34490615|PMID:34690748|PMID:34732400|PMID:34777884|PMID:34782754|PMID:34986040|PMID:35186329|PMID:35289132|PMID:35350396|PMID:35641312|PMID:35860755|PMID:35861376|PMID:36065636|PMID:36325100|PMID:36342673|PMID:36518302|PMID:36658419|PMID:36703223|PMID:36703500|PMID:36964972|PMID:37091313|PMID:38434220|PMID:38605122|PMID:38895864|PMID:39417332|PMID:7847370|PMID:9536098
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:936	brain disease		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:14745080|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15929042|PMID:16080118|PMID:16177225|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:17980715|PMID:18195149|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18546343|PMID:18546365|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19251978|PMID:19478085|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20438629|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20883824|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21824913|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22166854|PMID:22189570|PMID:22616202|PMID:22711370|PMID:22931735|PMID:23212759|PMID:23248042|PMID:23448099|PMID:23808377|PMID:24033266|PMID:24122062|PMID:24725338|PMID:25025039|PMID:25497598|PMID:25585994|PMID:25713120|PMID:25741868|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26467025|PMID:26607151|PMID:26640698|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28130605|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28812649|PMID:28815208|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30306720|PMID:30423451|PMID:30451971|PMID:30818899|PMID:30843307|PMID:30860128|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33258288|PMID:33396418|PMID:33469851|PMID:33486010|PMID:33726816|PMID:34052969|PMID:34288125|PMID:34445196|PMID:35186329|PMID:35298342|PMID:35641312|PMID:35790454|PMID:35861376|PMID:36342673|PMID:36403551|PMID:36964972|PMID:37184518
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9452	steatotic liver disease		ISO	RGD:732179	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:11431686|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:16024923|PMID:16177225|PMID:16368709|PMID:16634032|PMID:16638794|PMID:16896309|PMID:17426723|PMID:17438011|PMID:18195151|PMID:18500570|PMID:18546343|PMID:18783964|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20883824|PMID:21235791|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:24033266|PMID:24272679|PMID:24725338|PMID:25286830|PMID:25741868|PMID:25914719|PMID:26104464|PMID:26467025|PMID:26735972|PMID:27422324|PMID:27987238|PMID:28492532|PMID:28771251|PMID:28812649|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30451971|PMID:30843307|PMID:31440721|PMID:31589614|PMID:31980526|PMID:33473333|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34490615|PMID:34732400|PMID:34782754|PMID:35350396|PMID:35598585|PMID:35641312|PMID:35860755|PMID:36065636|PMID:36342673|PMID:36658419|PMID:36703500|PMID:37091313|PMID:39417332
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9834	hyperopia		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:15477547|PMID:15689359|PMID:15824347|PMID:15929042|PMID:16080118|PMID:16177225|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18195149|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18546343|PMID:18546365|PMID:18828154|PMID:18991199|PMID:19103152|PMID:19125351|PMID:19251978|PMID:19478085|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20142534|PMID:20153822|PMID:20438629|PMID:20576279|PMID:20691285|PMID:20818383|PMID:21236670|PMID:21455106|PMID:21515089|PMID:21824913|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22166854|PMID:22189570|PMID:22616202|PMID:22711370|PMID:22931735|PMID:23212759|PMID:23248042|PMID:23448099|PMID:23808377|PMID:24033266|PMID:24122062|PMID:24725338|PMID:25025039|PMID:25497598|PMID:25585994|PMID:25713120|PMID:25741868|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26467025|PMID:26607151|PMID:26755490|PMID:26942291|PMID:27290639|PMID:27422324|PMID:27822509|PMID:27838477|PMID:28130605|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28812649|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29655203|PMID:29920680|PMID:30021052|PMID:30306720|PMID:30423451|PMID:30451971|PMID:30843307|PMID:30860128|PMID:31164858|PMID:31440721|PMID:31475037|PMID:31980526|PMID:32445240|PMID:32964447|PMID:33396418|PMID:33469851|PMID:33486010|PMID:33726816|PMID:34052969|PMID:34288125|PMID:34445196|PMID:35186329|PMID:35298342|PMID:35641312|PMID:35790454|PMID:35861376|PMID:36342673|PMID:36403551|PMID:36964972|PMID:37184518
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9840	esotropia		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16545482|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:33956154|PMID:34008892|PMID:35350396|PMID:37091313|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9884	muscular dystrophy		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16545482|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:33956154|PMID:34008892|PMID:35350396|PMID:37091313|PMID:7847370
8834238	Polg	DNA polymerase gamma, catalytic subunit	gene	DOID:9970	obesity		ISO	RGD:732179	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: UCP3-related condition	PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16545482|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:33956154|PMID:34008892|PMID:35350396|PMID:37091313|PMID:7847370
8834285	Yjefn3	YjeF N-terminal domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26039340
8834285	Yjefn3	YjeF N-terminal domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1605797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8834285	Yjefn3	YjeF N-terminal domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1605797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8834371	Smarcd3	SWI/SNF related BAF chromatin remodeling complex subunit D3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8834371	Smarcd3	SWI/SNF related BAF chromatin remodeling complex subunit D3	gene	DOID:0080600	COVID-19		ISO	RGD:1323550	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8834371	Smarcd3	SWI/SNF related BAF chromatin remodeling complex subunit D3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8834371	Smarcd3	SWI/SNF related BAF chromatin remodeling complex subunit D3	gene	DOID:2394	ovarian cancer		ISO	RGD:1323550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8834371	Smarcd3	SWI/SNF related BAF chromatin remodeling complex subunit D3	gene	DOID:4362	cervical cancer		ISO	RGD:1323550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8834371	Smarcd3	SWI/SNF related BAF chromatin remodeling complex subunit D3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834371	Smarcd3	SWI/SNF related BAF chromatin remodeling complex subunit D3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8834371	Smarcd3	SWI/SNF related BAF chromatin remodeling complex subunit D3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323550	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8834371	Smarcd3	SWI/SNF related BAF chromatin remodeling complex subunit D3	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1311869	D	RGD:9068941	20200609	RGD		associated with Hypertension;protein:increased expression:heart left ventricle	PMID:23702776|REF_RGD_ID:9586349
8834371	Smarcd3	SWI/SNF related BAF chromatin remodeling complex subunit D3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1323550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8834371	Smarcd3	SWI/SNF related BAF chromatin remodeling complex subunit D3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8834386	Txndc17	thioredoxin domain containing 17	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8834386	Txndc17	thioredoxin domain containing 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8834386	Txndc17	thioredoxin domain containing 17	gene	DOID:1909	melanoma		ISO	RGD:1318890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8834386	Txndc17	thioredoxin domain containing 17	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8834386	Txndc17	thioredoxin domain containing 17	gene	DOID:3275	thymoma		ISO	RGD:1318890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8834386	Txndc17	thioredoxin domain containing 17	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1318890	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
8834386	Txndc17	thioredoxin domain containing 17	gene	DOID:4362	cervical cancer		ISO	RGD:1318890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8834386	Txndc17	thioredoxin domain containing 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834409	Prr34	PRR34 long non-coding RNA	gene	DOID:1115	sarcoma		ISO	RGD:1602476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8834409	Prr34	PRR34 long non-coding RNA	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834417	Pofut3	protein O-fucosyltransferase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1354084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8834417	Pofut3	protein O-fucosyltransferase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8834417	Pofut3	protein O-fucosyltransferase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8834417	Pofut3	protein O-fucosyltransferase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1354084	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8834417	Pofut3	protein O-fucosyltransferase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8834417	Pofut3	protein O-fucosyltransferase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8834417	Pofut3	protein O-fucosyltransferase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8834427	Znrd2	zinc ribbon domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8834427	Znrd2	zinc ribbon domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1323499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8834427	Znrd2	zinc ribbon domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834427	Znrd2	zinc ribbon domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:0050642	hypochromic microcytic anemia		ISO	RGD:1351725	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypochromic microcytic anemia	PMID:18940313|PMID:19336477|PMID:20140240|PMID:20595384|PMID:2061936|PMID:20619369|PMID:25741868|PMID:28492532|PMID:29041934|PMID:33029882
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:0060639	permanent neonatal diabetes mellitus		ISO	RGD:1351725	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Permanent Neonatal Diabetes Mellitus	PMID:25741868
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:0111278	histiocytosis-lymphadenopathy plus syndrome		ISO	RGD:1351725	D	RGD:7240710	20180130	OMIM			
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:0111278	histiocytosis-lymphadenopathy plus syndrome		ISO	RGD:1351725	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome | ClinVar Annotator: match by term: H syndrome | ClinVar Annotator: match by term: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME | ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome	PMID:16199547|PMID:17461801|PMID:17576681|PMID:18410979|PMID:18414213|PMID:18940313|PMID:19336477|PMID:19889517|PMID:20140240|PMID:20199539|PMID:20595384|PMID:2061936|PMID:20619369|PMID:21178579|PMID:21888995|PMID:22238637|PMID:22653152|PMID:22679148|PMID:22875837|PMID:22989030|PMID:23406517|PMID:23530176|PMID:23789599|PMID:24172204|PMID:24894595|PMID:25741868|PMID:25963354|PMID:25967258|PMID:26074390|PMID:27143505|PMID:27215564|PMID:27364927|PMID:28492532|PMID:28554179|PMID:28842327|PMID:29041934|PMID:29751792|PMID:29808591|PMID:30537558|PMID:30783801|PMID:31276222|PMID:31464584|PMID:32151906|PMID:33029882|PMID:33947670|PMID:34657628|PMID:34686905|PMID:36110220|PMID:37483481|PMID:37529453|PMID:38641907|PMID:38965556|PMID:9536098
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1351725	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:18940313|PMID:19336477|PMID:20140240|PMID:20595384|PMID:2061936|PMID:20619369|PMID:25741868|PMID:28492532|PMID:29041934|PMID:33029882
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:1115	sarcoma		ISO	RGD:1351725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:11830	myopia		ISO	RGD:1351725	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:18940313|PMID:19336477|PMID:20140240|PMID:20595384|PMID:2061936|PMID:20619369|PMID:25741868|PMID:28492532|PMID:29041934|PMID:33029882
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:12849	autistic disorder		ISO	RGD:1351725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:17461801|PMID:19336477|PMID:20595384|PMID:25741868|PMID:28492532|PMID:28554179|PMID:33947670
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:1324	lung cancer		ISO	RGD:1351725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:1682	congenital heart disease		ISO	RGD:1351725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20140240
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:1924	hypogonadism		ISO	RGD:1351725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20140240
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1351725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	PMID:25741868|PMID:28492532|PMID:28842327|PMID:29751792|PMID:31464584
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:3405	histiocytosis		ISO	RGD:1351725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22238637
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:420	hypertrichosis		ISO	RGD:1351725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19336477|PMID:20140240
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1351725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1351725	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:630	genetic disease		ISO	RGD:1351725	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:9000197	Edema		ISO	RGD:1351725	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Edema	PMID:18940313|PMID:19336477|PMID:20140240|PMID:20595384|PMID:2061936|PMID:20619369|PMID:25741868|PMID:28492532|PMID:29041934|PMID:33029882
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:9001904	Sinus Histiocytosis		ISO	RGD:1351725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20140240
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:9003984	Hyperpigmentation		ISO	RGD:1351725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19336477|PMID:20140240
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1351725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20140240
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1351725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20140240
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1351725	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:18940313|PMID:19336477|PMID:20140240|PMID:20595384|PMID:2061936|PMID:20619369|PMID:25741868|PMID:28492532|PMID:29041934|PMID:33029882
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351725	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:18940313|PMID:19336477|PMID:20140240|PMID:20595384|PMID:2061936|PMID:20619369|PMID:25741868|PMID:28492532|PMID:29041934|PMID:33029882
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8834435	Slc29a3	solute carrier family 29 member 3	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1351725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19336477|PMID:20140240
8834448	Praf2	PRA1 domain family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8834448	Praf2	PRA1 domain family member 2	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1350856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	
8834448	Praf2	PRA1 domain family member 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350856	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8834448	Praf2	PRA1 domain family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8834455	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8834455	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8834455	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:1115	sarcoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8834455	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia	
8834455	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:1909	melanoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8834455	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8834455	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8834455	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:4362	cervical cancer		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8834455	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8834455	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834455	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8834455	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8834479	Cbx7	chromobox 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8834479	Cbx7	chromobox 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8834479	Cbx7	chromobox 7	gene	DOID:0080199	colorectal carcinoma	disease_progression	ISO	RGD:1353483	D	RGD:9068941	20200609	RGD		mRNA:decreased expression::colorectum:	PMID:22041561|REF_RGD_ID:9587355
8834479	Cbx7	chromobox 7	gene	DOID:0080522	anaplastic thyroid carcinoma		ISO	RGD:1353483	D	RGD:9068941	20200609	RGD		mRNA,protein,DNA:decreased expression, loss of heterozygosity:thyroid gland:	PMID:18701502|REF_RGD_ID:9587357
8834479	Cbx7	chromobox 7	gene	DOID:0080522	anaplastic thyroid carcinoma		ISO	RGD:1353483	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:thyroid gland:	PMID:19706751|REF_RGD_ID:9586729
8834479	Cbx7	chromobox 7	gene	DOID:0080522	anaplastic thyroid carcinoma		ISO	RGD:1550491	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:thyroid gland:	PMID:18701502|REF_RGD_ID:9587357
8834479	Cbx7	chromobox 7	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:1550491	D	RGD:9068941	20200609	RGD			PMID:17374722|REF_RGD_ID:11352707
8834479	Cbx7	chromobox 7	gene	DOID:10283	prostate cancer		ISO	RGD:1353483	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8834479	Cbx7	chromobox 7	gene	DOID:10283	prostate cancer		ISO	RGD:1353483	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8834479	Cbx7	chromobox 7	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1353483	D	RGD:9068941	20200609	RGD		protein:increased expression:stomach:	PMID:20723236|REF_RGD_ID:9587358
8834479	Cbx7	chromobox 7	gene	DOID:11054	urinary bladder cancer	severity	ISO	RGD:1353483	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:urinary bladder (human)	PMID:18984978|REF_RGD_ID:9587361
8834479	Cbx7	chromobox 7	gene	DOID:1115	sarcoma		ISO	RGD:1353483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8834479	Cbx7	chromobox 7	gene	DOID:1612	breast cancer	severity	ISO	RGD:1353483	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:25351982|REF_RGD_ID:11352704
8834479	Cbx7	chromobox 7	gene	DOID:2671	transitional cell carcinoma	severity	ISO	RGD:1353483	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:urinary bladder:	PMID:18984978|REF_RGD_ID:9587361
8834479	Cbx7	chromobox 7	gene	DOID:3068	glioblastoma	disease_progression	ISO	RGD:1353483	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:astrocyte:	PMID:24260522|REF_RGD_ID:9587354
8834479	Cbx7	chromobox 7	gene	DOID:3459	breast carcinoma	severity	ISO	RGD:1353483	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast (human)	PMID:21779448|REF_RGD_ID:11352698
8834479	Cbx7	chromobox 7	gene	DOID:3587	pancreatic ductal carcinoma	disease_progression	ISO	RGD:1353483	D	RGD:9068941	20200609	RGD		protein:decreased expression:pancreas	PMID:20185297|REF_RGD_ID:9587360
8834479	Cbx7	chromobox 7	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1353483	D	RGD:9068941	20200609	RGD		mRNA,DNA:decreased expression, loss of heterozygosity:lung:	PMID:22214847|REF_RGD_ID:9587356
8834479	Cbx7	chromobox 7	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1353483	D	RGD:9068941	20200609	RGD		mRNA,protein,DNA:decreased expression, loss of heterozygosity:thyroid gland:	PMID:18701502|REF_RGD_ID:9587357
8834479	Cbx7	chromobox 7	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1550491	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:thyroid gland (mouse)	PMID:18701502|REF_RGD_ID:9587357
8834479	Cbx7	chromobox 7	gene	DOID:4468	clear cell adenocarcinoma	disease_progression	ISO	RGD:1353483	D	RGD:9068941	20200609	RGD			PMID:24375438|REF_RGD_ID:9587359
8834479	Cbx7	chromobox 7	gene	DOID:5517	stomach carcinoma		ISO	RGD:1353483	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:stomach:	PMID:22041561|REF_RGD_ID:9587355
8834479	Cbx7	chromobox 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834479	Cbx7	chromobox 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353483	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:22041561|REF_RGD_ID:9587355
8834479	Cbx7	chromobox 7	gene	DOID:707	B-cell lymphoma		ISO	RGD:1550491	D	RGD:9068941	20200609	RGD			PMID:17374722|REF_RGD_ID:11352707
8834479	Cbx7	chromobox 7	gene	DOID:8161	oncocytic carcinoma of the thyroid		ISO	RGD:1353483	D	RGD:9068941	20200609	RGD		protein:decreased expression:thyroid Human)	PMID:25759796|REF_RGD_ID:11352710
8834479	Cbx7	chromobox 7	gene	DOID:8692	myeloid leukemia	treatment	ISO	RGD:1353483	D	RGD:9068941	20200609	RGD			PMID:26343356|REF_RGD_ID:11352715
8834479	Cbx7	chromobox 7	gene	DOID:9004078	Pancreatic Intraepithelial Neoplasia	disease_progression	ISO	RGD:1353483	D	RGD:9068941	20200609	RGD		protein:decreased expression:pancreas	PMID:20185297|REF_RGD_ID:9587360
8834479	Cbx7	chromobox 7	gene	DOID:9004441	Experimental Leukemia		ISO	RGD:1550491	D	RGD:9068941	20200609	RGD			PMID:25434821|REF_RGD_ID:11352713
8834479	Cbx7	chromobox 7	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1353483	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung (human)	PMID:22214847|REF_RGD_ID:9587356
8834479	Cbx7	chromobox 7	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1550491	D	RGD:9068941	20200609	RGD			PMID:22214847|REF_RGD_ID:9587356
8834479	Cbx7	chromobox 7	gene	DOID:9006494	Follicular Thyroid Cancer		ISO	RGD:1353483	D	RGD:9068941	20200609	RGD		protein:decreased expression:thyroid gland:	PMID:18701502|REF_RGD_ID:9587357
8834479	Cbx7	chromobox 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8834479	Cbx7	chromobox 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8834479	Cbx7	chromobox 7	gene	DOID:916	liver benign neoplasm		ISO	RGD:1550491	D	RGD:9068941	20200609	RGD			PMID:22214847|REF_RGD_ID:9587356
8834479	Cbx7	chromobox 7	gene	DOID:9538	multiple myeloma		ISO	RGD:1353483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23955597
8834479	Cbx7	chromobox 7	gene	DOID:9538	multiple myeloma	susceptibility	ISO	RGD:1353483	D	RGD:9068941	20200609	RGD		DNA:snp:intron:c.113+3502C>T (human) (rs877529)	PMID:23955597|REF_RGD_ID:11352716
8834490	LOC102011130	chromosome unknown open reading frame, human C20orf173	gene	DOID:5041	esophageal cancer		ISO	RGD:1351674	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8834502	Upk3b	uroplakin 3B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320049	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8834502	Upk3b	uroplakin 3B	gene	DOID:0080600	COVID-19		ISO	RGD:1320049	D	RGD:9068941	20200702	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8834502	Upk3b	uroplakin 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834502	Upk3b	uroplakin 3B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8834502	Upk3b	uroplakin 3B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8834519	Foxp3	forkhead box P3	gene	DOID:0050200	Korean hemorrhagic fever		ISO	RGD:1562112	D	RGD:9068941	20200910	RGD		mRNA:increased expression:lung	PMID:17878294|REF_RGD_ID:2325989
8834519	Foxp3	forkhead box P3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8834519	Foxp3	forkhead box P3	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1348507	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23962110
8834519	Foxp3	forkhead box P3	gene	DOID:0050523	adult T-cell leukemia/lymphoma	disease_progression	ISO	RGD:1348507	D	RGD:9068941	20200813	RGD			PMID:23797717|REF_RGD_ID:38456007
8834519	Foxp3	forkhead box P3	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1348507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:24258212|PMID:25741868|PMID:28492532|PMID:29340042|PMID:31855573
8834519	Foxp3	forkhead box P3	gene	DOID:0081267	graft-versus-host disease	treatment	ISO	RGD:1562112	D	RGD:9068941	20200910	RGD			PMID:22344929|REF_RGD_ID:38599140
8834519	Foxp3	forkhead box P3	gene	DOID:0081463	recurrent respiratory papillomatosis	susceptibility	ISO	RGD:1348507	D	RGD:9068941	20200831	RGD		DNA:SNPs:promoter:rs5902434,rs2232365 (human)	PMID:28298239|REF_RGD_ID:38549360
8834519	Foxp3	forkhead box P3	gene	DOID:0090110	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		ISO	RGD:1348507	D	RGD:7240710	20180130	OMIM			
8834519	Foxp3	forkhead box P3	gene	DOID:0090110	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		ISO	RGD:1348507	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED | ClinVar Annotator: match by term: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | ClinVar Annotator: match by term: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome	PMID:11120765|PMID:11137992|PMID:11137993|PMID:11295725|PMID:11768393|PMID:15096376|PMID:16199547|PMID:16630773|PMID:16741580|PMID:16920951|PMID:16990602|PMID:17576681|PMID:17586580|PMID:17635943|PMID:18316354|PMID:18795917|PMID:18820676|PMID:18931102|PMID:18951619|PMID:20537998|PMID:20643476|PMID:20650610|PMID:20842625|PMID:21036387|PMID:21802372|PMID:22581967|PMID:22590469|PMID:23313429|PMID:24250806|PMID:24258212|PMID:24792626|PMID:24916357|PMID:24982679|PMID:25363768|PMID:25546394|PMID:25741868|PMID:25911531|PMID:26467025|PMID:26748374|PMID:26748735|PMID:27167055|PMID:28289675|PMID:28492532|PMID:28778586|PMID:28783662|PMID:28833278|PMID:28993341|PMID:29193502|PMID:29241729|PMID:29340042|PMID:29896738|PMID:30293990|PMID:30385752|PMID:30443250|PMID:30510991|PMID:30894704|PMID:31019026|PMID:31130284|PMID:31855573|PMID:32279225|PMID:32289814|PMID:32531870|PMID:33046911|PMID:33194927|PMID:33523441|PMID:33546062|PMID:33637067|PMID:3375136|PMID:33751536|PMID:33833438|PMID:34216291|PMID:35434975|PMID:35624357|PMID:36007526|PMID:36091011|PMID:36600150|PMID:37898571|PMID:39870583|PMID:9536098
8834519	Foxp3	forkhead box P3	gene	DOID:106	pleural tuberculosis	disease_progression	ISO	RGD:1348507	D	RGD:9068941	20200806	RGD		associated with human immunodeficiency virus infectious disease;	PMID:21303360|REF_RGD_ID:36947878
8834519	Foxp3	forkhead box P3	gene	DOID:10763	hypertension	treatment	ISO	RGD:1562112	D	RGD:9068941	20200831	RGD			PMID:24420551|REF_RGD_ID:38549366
8834519	Foxp3	forkhead box P3	gene	DOID:1115	sarcoma		ISO	RGD:1348507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8834519	Foxp3	forkhead box P3	gene	DOID:11166	Human papillomavirus infectious disease	susceptibility	ISO	RGD:1348507	D	RGD:9068941	20200820	RGD		DNA:SNP::rs3761548(human)	PMID:31177386|REF_RGD_ID:38501104
8834519	Foxp3	forkhead box P3	gene	DOID:11168	anogenital venereal wart		ISO	RGD:1348507	D	RGD:9068941	20201105	RGD		mRNA,protein:increased expression:multiple (human)	PMID:23754510|REF_RGD_ID:40400714
8834519	Foxp3	forkhead box P3	gene	DOID:11263	chlamydia	treatment	ISO	RGD:1348507	D	RGD:9068941	20200807	RGD			PMID:30832593|REF_RGD_ID:38455984
8834519	Foxp3	forkhead box P3	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1348507	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8834519	Foxp3	forkhead box P3	gene	DOID:1205	allergic disease		ISO	RGD:1348507	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27965764
8834519	Foxp3	forkhead box P3	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1348507	D	RGD:9068941	20200820	RGD		mRNA:increased expression:liver	PMID:17158635|REF_RGD_ID:38501106
8834519	Foxp3	forkhead box P3	gene	DOID:12365	malaria		ISO	RGD:1348507	D	RGD:9068941	20200807	RGD			PMID:19338000|REF_RGD_ID:38455985
8834519	Foxp3	forkhead box P3	gene	DOID:12365	malaria	disease_progression	ISO	RGD:1348507	D	RGD:9068941	20200807	RGD			PMID:16169501|REF_RGD_ID:38455992
8834519	Foxp3	forkhead box P3	gene	DOID:1459	hypothyroidism	treatment	ISO	RGD:1562112	D	RGD:9068941	20200903	RGD			PMID:29896255|REF_RGD_ID:38549578
8834519	Foxp3	forkhead box P3	gene	DOID:1883	hepatitis C		ISO	RGD:1348507	D	RGD:9068941	20200813	RGD		mRNA:increased expression:liver	PMID:17414718|REF_RGD_ID:38456005
8834519	Foxp3	forkhead box P3	gene	DOID:1909	melanoma		ISO	RGD:1348507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8834519	Foxp3	forkhead box P3	gene	DOID:2043	hepatitis B		ISO	RGD:1348507	D	RGD:9068941	20200827	RGD		associated with hepatocellular carcinoma; protein:increased expression:liver	PMID:21086571|REF_RGD_ID:38548919
8834519	Foxp3	forkhead box P3	gene	DOID:2394	ovarian cancer		ISO	RGD:1348507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8834519	Foxp3	forkhead box P3	gene	DOID:2723	dermatitis		ISO	RGD:1557838	D	RGD:9068941	20200831	RGD			PMID:22466646|REF_RGD_ID:38549359
8834519	Foxp3	forkhead box P3	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:1562112	D	RGD:9068941	20200910	RGD		mRNA:increased expression:lung	PMID:19840961|REF_RGD_ID:4889978
8834519	Foxp3	forkhead box P3	gene	DOID:2841	asthma		ISO	RGD:1348507	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27965764|PMID:29317916
8834519	Foxp3	forkhead box P3	gene	DOID:2841	asthma	treatment	ISO	RGD:1557838	D	RGD:9068941	20200827	RGD			PMID:27633092|REF_RGD_ID:38548920
8834519	Foxp3	forkhead box P3	gene	DOID:289	endometriosis	severity	ISO	RGD:1348507	D	RGD:9068941	20200820	RGD			PMID:22541024|REF_RGD_ID:38501099
8834519	Foxp3	forkhead box P3	gene	DOID:2938	Epstein-Barr virus infectious disease	susceptibility	ISO	RGD:1348507	D	RGD:9068941	20200827	RGD		associated with adult T-cell leukemia;	PMID:18246047|REF_RGD_ID:38548918
8834519	Foxp3	forkhead box P3	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1348507	D	RGD:9068941	20200820	RGD		DNA:polymorphism:promoter:-924A>G(human)	PMID:29020928|REF_RGD_ID:38501101
8834519	Foxp3	forkhead box P3	gene	DOID:321	HTLV-1-associated myelopathy/tropical spastic paraparesis		ISO	RGD:1348507	D	RGD:9068941	20200831	RGD		mRNA:decreased expression: T cell	PMID:20945034|REF_RGD_ID:38549361
8834519	Foxp3	forkhead box P3	gene	DOID:321	HTLV-1-associated myelopathy/tropical spastic paraparesis	disease_progression	ISO	RGD:1348507	D	RGD:9068941	20200813	RGD			PMID:28101786|REF_RGD_ID:38456004
8834519	Foxp3	forkhead box P3	gene	DOID:3298	vaccinia		ISO	RGD:1557838	D	RGD:9068941	20200806	RGD			PMID:20548030|REF_RGD_ID:36947870
8834519	Foxp3	forkhead box P3	gene	DOID:3744	cervical squamous cell carcinoma	severity	ISO	RGD:1348507	D	RGD:9068941	20200807	RGD			PMID:28086903|REF_RGD_ID:38455996
8834519	Foxp3	forkhead box P3	gene	DOID:401	multidrug-resistant tuberculosis		ISO	RGD:1348507	D	RGD:9068941	20200813	RGD		mRNA:increased expression:peripheral blood:	PMID:25483347|REF_RGD_ID:38456003
8834519	Foxp3	forkhead box P3	gene	DOID:4166	syphilis	treatment	ISO	RGD:1348507	D	RGD:9068941	20200813	RGD			PMID:27284313|REF_RGD_ID:38456006
8834519	Foxp3	forkhead box P3	gene	DOID:4404	occupational dermatitis		ISO	RGD:1348507	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29477354
8834519	Foxp3	forkhead box P3	gene	DOID:4928	intrahepatic cholangiocarcinoma		ISO	RGD:1562112	D	RGD:9068941	20200910	RGD		DNA:hypomethylation:liver	PMID:24291052|REF_RGD_ID:38599002
8834519	Foxp3	forkhead box P3	gene	DOID:630	genetic disease		ISO	RGD:1348507	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8834519	Foxp3	forkhead box P3	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1348507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:28492532
8834519	Foxp3	forkhead box P3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348507	D	RGD:9068941	20200827	RGD		protein:increased expression:liver	PMID:21086571|REF_RGD_ID:38548919
8834519	Foxp3	forkhead box P3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1348507	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20476861
8834519	Foxp3	forkhead box P3	gene	DOID:8568	infectious mononucleosis	disease_progression	ISO	RGD:1348507	D	RGD:9068941	20200820	RGD			PMID:23628056|REF_RGD_ID:38501103
8834519	Foxp3	forkhead box P3	gene	DOID:874	bacterial pneumonia	severity	ISO	RGD:1557838	D	RGD:9068941	20200820	RGD			PMID:25398094|REF_RGD_ID:38501102
8834519	Foxp3	forkhead box P3	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:1562112	D	RGD:9068941	20200903	RGD			PMID:30287503|REF_RGD_ID:38549580
8834519	Foxp3	forkhead box P3	gene	DOID:9000099	Experimental Colitis		ISO	RGD:1557838	D	RGD:9068941	20200807	RGD		protein:increased expression:colon:	PMID:17229795|REF_RGD_ID:38455995
8834519	Foxp3	forkhead box P3	gene	DOID:9000099	Experimental Colitis		ISO	RGD:1557838	D	RGD:9068941	20200831	RGD		mRNA:increased expression:mucosa:	PMID:27498708|REF_RGD_ID:14975101
8834519	Foxp3	forkhead box P3	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:1557838	D	RGD:9068941	20200807	RGD			PMID:26925602|REF_RGD_ID:38455994
8834519	Foxp3	forkhead box P3	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:1562112	D	RGD:9068941	20200831	RGD			PMID:28733028|REF_RGD_ID:38549362
8834519	Foxp3	forkhead box P3	gene	DOID:9000197	Edema		ISO	RGD:1348507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema	PMID:28492532
8834519	Foxp3	forkhead box P3	gene	DOID:9000238	Acute-On-Chronic Liver Failure		ISO	RGD:1348507	D	RGD:9068941	20200831	RGD		mRNA,protein:increased expression:peripheral blood mononuclear cell, liver:	PMID:21489307|REF_RGD_ID:38549358
8834519	Foxp3	forkhead box P3	gene	DOID:9000310	Lung Injury		ISO	RGD:1348507	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28630656
8834519	Foxp3	forkhead box P3	gene	DOID:9002311	Experimental Autoimmune Myocarditis	severity	ISO	RGD:1562112	D	RGD:9068941	20200903	RGD			PMID:28892130|REF_RGD_ID:38549573
8834519	Foxp3	forkhead box P3	gene	DOID:9002311	Experimental Autoimmune Myocarditis	treatment	ISO	RGD:1562112	D	RGD:9068941	20200910	RGD			PMID:19907173|REF_RGD_ID:13702882
8834519	Foxp3	forkhead box P3	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1562112	D	RGD:9068941	20200910	RGD		mRNA,protein:decreased expression:lung	PMID:23643080|REF_RGD_ID:38599003
8834519	Foxp3	forkhead box P3	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:1562112	D	RGD:9068941	20200831	RGD			PMID:29264841|REF_RGD_ID:38549364
8834519	Foxp3	forkhead box P3	gene	DOID:9003040	Squamous Intraepithelial Lesions of the Cervix	severity	ISO	RGD:1348507	D	RGD:9068941	20200820	RGD		DNA:SNP::rs3761548(human)	PMID:31177386|REF_RGD_ID:38501104
8834519	Foxp3	forkhead box P3	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1348507	D	RGD:9068941	20200827	RGD			PMID:18673437|REF_RGD_ID:38548921
8834519	Foxp3	forkhead box P3	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1348507	D	RGD:9068941	20200813	RGD		mRNA:increased expression:liver	PMID:17414718|REF_RGD_ID:38456005
8834519	Foxp3	forkhead box P3	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1557838	D	RGD:9068941	20200910	RGD			PMID:21199671|REF_RGD_ID:38599144
8834519	Foxp3	forkhead box P3	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:1557838	D	RGD:9068941	20200903	RGD			PMID:28457422|REF_RGD_ID:38549577
8834519	Foxp3	forkhead box P3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348507	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:11137993|PMID:18931102|PMID:23313429|PMID:24982679|PMID:25741868|PMID:25911531|PMID:26467025|PMID:27167055|PMID:28289675|PMID:28492532|PMID:29193502|PMID:30443250|PMID:32531870|PMID:33194927|PMID:33523441
8834519	Foxp3	forkhead box P3	gene	DOID:9004484	Sepsis	severity	ISO	RGD:1348507	D	RGD:9068941	20200806	RGD			PMID:25403265|REF_RGD_ID:38455982
8834519	Foxp3	forkhead box P3	gene	DOID:9004656	Airway Remodeling	treatment	ISO	RGD:1557838	D	RGD:9068941	20200827	RGD			PMID:27633092|REF_RGD_ID:38548920
8834519	Foxp3	forkhead box P3	gene	DOID:9005106	Animal Toxoplasmosis		ISO	RGD:1557838	D	RGD:9068941	20200820	RGD		mRNA:decreased expression:placenta:	PMID:21923716|REF_RGD_ID:38501105
8834519	Foxp3	forkhead box P3	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1348507	D	RGD:9068941	20211210	CTD		CTD Direct Evidence: marker/mechanism	PMID:34166680
8834519	Foxp3	forkhead box P3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1562112	D	RGD:9068941	20200910	RGD		mRNA,protein:increased expression: peripheral blood, spleen, lymphoid node	PMID:18328191|REF_RGD_ID:38599142
8834519	Foxp3	forkhead box P3	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:1562112	D	RGD:9068941	20200910	RGD			PMID:32341701|REF_RGD_ID:38599143
8834519	Foxp3	forkhead box P3	gene	DOID:9005930	Endotoxemia		ISO	RGD:1562112	D	RGD:9068941	20200806	RGD		protein:increased expression:intestinal mucosa	PMID:19998507|REF_RGD_ID:38455980
8834519	Foxp3	forkhead box P3	gene	DOID:9005968	Neuralgia		ISO	RGD:1562112	D	RGD:9068941	20200910	RGD		mRNA:increased expression: L4-L5 of the spinal cord	PMID:30858084|REF_RGD_ID:38599004
8834519	Foxp3	forkhead box P3	gene	DOID:9005968	Neuralgia	treatment	ISO	RGD:1557838	D	RGD:9068941	20200910	RGD			PMID:30858084|REF_RGD_ID:38599004
8834519	Foxp3	forkhead box P3	gene	DOID:9006095	Ascites		ISO	RGD:1348507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ascites	PMID:28492532
8834519	Foxp3	forkhead box P3	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:1562112	D	RGD:9068941	20200903	RGD		protein:decreased expression:sciatic nerve	PMID:30464413|REF_RGD_ID:38549576
8834519	Foxp3	forkhead box P3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8834519	Foxp3	forkhead box P3	gene	DOID:9007204	Dysbiosis	treatment	ISO	RGD:1562112	D	RGD:9068941	20200903	RGD			PMID:32227764|REF_RGD_ID:38549571
8834519	Foxp3	forkhead box P3	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1348507	D	RGD:9068941	20200827	RGD			PMID:18673437|REF_RGD_ID:38548921
8834519	Foxp3	forkhead box P3	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1348507	D	RGD:9068941	20200831	RGD		mRNA,protein:increased expression:peripheral blood mononuclear cell, liver:	PMID:21489307|REF_RGD_ID:38549358
8834519	Foxp3	forkhead box P3	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1348507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	PMID:28492532
8834519	Foxp3	forkhead box P3	gene	DOID:9008861	Wound Infection	severity	ISO	RGD:1562112	D	RGD:9068941	20200910	RGD		associated with Pseudomonas aeruginosa infection;mRNA:increased expression:wound fluid:	PMID:22141756|REF_RGD_ID:38599139
8834519	Foxp3	forkhead box P3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1348507	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17570480
8834519	Foxp3	forkhead box P3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8834519	Foxp3	forkhead box P3	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:1348507	D	RGD:9068941	20200806	RGD		mRNA:increased expression:Peripheral blood mononuclear cell:	PMID:29205403|REF_RGD_ID:38455981
8834519	Foxp3	forkhead box P3	gene	DOID:9169	Wiskott-Aldrich syndrome		ISO	RGD:1557838	D	RGD:9068941	20250724	MouseDO		OMIM:301000 | OMIM:614493	
8834519	Foxp3	forkhead box P3	gene	DOID:9256	colorectal cancer		ISO	RGD:1348507	D	RGD:9068941	20200910	RGD		DNA:hypomethylation:colorectum	PMID:24291052|REF_RGD_ID:38599002
8834519	Foxp3	forkhead box P3	gene	DOID:9351	diabetes mellitus		ISO	RGD:1348507	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:11137993|PMID:23313429|PMID:25741868|PMID:28492532|PMID:29193502|PMID:33194927|PMID:33523441
8834519	Foxp3	forkhead box P3	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1348507	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:25741868
8834519	Foxp3	forkhead box P3	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	ISO	RGD:1348507	D	RGD:9068941	20200609	RGD		associated with Autoimmune Diseases;DNA:mutations: :multiple (human)	PMID:11137992|REF_RGD_ID:1598959
8834570	Tent2	terminal nucleotidyltransferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8834570	Tent2	terminal nucleotidyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8834570	Tent2	terminal nucleotidyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8834570	Tent2	terminal nucleotidyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:1315054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8834570	Tent2	terminal nucleotidyltransferase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8834570	Tent2	terminal nucleotidyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8834570	Tent2	terminal nucleotidyltransferase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315054	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8834570	Tent2	terminal nucleotidyltransferase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8834570	Tent2	terminal nucleotidyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834570	Tent2	terminal nucleotidyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8834570	Tent2	terminal nucleotidyltransferase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8834591	Slc5a5	solute carrier family 5 member 5	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:731751	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	PMID:10487695|PMID:25741868|PMID:28492532|PMID:30240412|PMID:33692749
8834591	Slc5a5	solute carrier family 5 member 5	gene	DOID:0112185	thyroid dyshormonogenesis 1		ISO	RGD:731751	D	RGD:7240710	20180130	OMIM			
8834591	Slc5a5	solute carrier family 5 member 5	gene	DOID:0112185	thyroid dyshormonogenesis 1		ISO	RGD:731751	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: SLC5A5-related condition | ClinVar Annotator: match by term: THYROID DYSHORMONOGENESIS 1 | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1 | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 1	PMID:10487695|PMID:10902780|PMID:10907989|PMID:16418213|PMID:18339708|PMID:21054210|PMID:21565787|PMID:23690546|PMID:25525159|PMID:25741868|PMID:26204134|PMID:28492532|PMID:30240412|PMID:32805706|PMID:33692749|PMID:34248839|PMID:35276235|PMID:9171822|PMID:9388506|PMID:9398697|PMID:9486973|PMID:9709973|PMID:9814502
8834591	Slc5a5	solute carrier family 5 member 5	gene	DOID:10534	stomach cancer		ISO	RGD:731751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8834591	Slc5a5	solute carrier family 5 member 5	gene	DOID:13938	amenorrhea		ISO	RGD:731751	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
8834591	Slc5a5	solute carrier family 5 member 5	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:731751	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15522214
8834591	Slc5a5	solute carrier family 5 member 5	gene	DOID:1909	melanoma		ISO	RGD:731751	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12489024
8834591	Slc5a5	solute carrier family 5 member 5	gene	DOID:3070	high grade glioma		ISO	RGD:731751	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12489024
8834591	Slc5a5	solute carrier family 5 member 5	gene	DOID:4362	cervical cancer		ISO	RGD:731751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8834591	Slc5a5	solute carrier family 5 member 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731751	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17408651
8834591	Slc5a5	solute carrier family 5 member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834591	Slc5a5	solute carrier family 5 member 5	gene	DOID:630	genetic disease		ISO	RGD:731751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8834591	Slc5a5	solute carrier family 5 member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731751	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15347726|PMID:15520214
8834591	Slc5a5	solute carrier family 5 member 5	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:731751	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12489024
8834591	Slc5a5	solute carrier family 5 member 5	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:731751	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12489024|PMID:14633711
8834591	Slc5a5	solute carrier family 5 member 5	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:731751	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12489024
8834591	Slc5a5	solute carrier family 5 member 5	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:731751	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:16954431|PMID:17045167
8834591	Slc5a5	solute carrier family 5 member 5	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:731751	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12489024
8834610	Pcbp2	poly(rC) binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8834610	Pcbp2	poly(rC) binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8834610	Pcbp2	poly(rC) binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8834610	Pcbp2	poly(rC) binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8834610	Pcbp2	poly(rC) binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1320065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8834610	Pcbp2	poly(rC) binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320065	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8834610	Pcbp2	poly(rC) binding protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8834610	Pcbp2	poly(rC) binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834610	Pcbp2	poly(rC) binding protein 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1320065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8834610	Pcbp2	poly(rC) binding protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8834610	Pcbp2	poly(rC) binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8834610	Pcbp2	poly(rC) binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:0050787	juvenile polyposis syndrome		ISO	RGD:26891576	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Juvenile polyposis syndrome	PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:0070217	familial hyperinsulinemic hypoglycemia 6		ISO	RGD:733213	D	RGD:7240710	20180130	OMIM			
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:0070217	familial hyperinsulinemic hypoglycemia 6		ISO	RGD:733213	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GLUD1-related condition | ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6 | ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome	PMID:10636977|PMID:10871207|PMID:11214910|PMID:17576681|PMID:18928469|PMID:19046187|PMID:19344873|PMID:19690084|PMID:23506826|PMID:23869231|PMID:25008049|PMID:25741868|PMID:26467025|PMID:26759084|PMID:26839063|PMID:27188453|PMID:28165182|PMID:28492532|PMID:30252420|PMID:30306091|PMID:30352420|PMID:31119523|PMID:32005694|PMID:32143698|PMID:34992182|PMID:35951311|PMID:36239000|PMID:9536098|PMID:9571225|PMID:9571255
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:1059	intellectual disability		ISO	RGD:733213	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733213	D	RGD:9068941	20200609	RGD		protein:increased expression, decreased oxidation:brain	PMID:16298240|REF_RGD_ID:6484556
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733213	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:16341942|REF_RGD_ID:6484555
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:13413	hepatic encephalopathy		ISO	RGD:2708	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:brain	PMID:2903433|REF_RGD_ID:6484661
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:1825	childhood absence epilepsy		ISO	RGD:2708	D	RGD:9068941	20200609	RGD		protein:increased expression:thalamus	PMID:10975907|REF_RGD_ID:6484590
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:1826	epilepsy		ISO	RGD:733213	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10636977|PMID:19046187|PMID:19344873|PMID:23869231|PMID:25008049|PMID:25741868|PMID:26759084|PMID:27188453|PMID:28165182|PMID:28492532|PMID:9571255
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:1909	melanoma		ISO	RGD:733213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:2018	hyperinsulinism		ISO	RGD:733213	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinism, Dominant	PMID:25741868|PMID:26467025|PMID:28492532
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:2316	brain ischemia		ISO	RGD:2708	D	RGD:9068941	20200609	RGD		protein:decreased activity:brain	PMID:7808037|REF_RGD_ID:6484655
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:2708	D	RGD:9068941	20200609	RGD			PMID:18381650|REF_RGD_ID:6484554
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:3613	Canavan disease		ISO	RGD:1551567	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebellum, brain stem	PMID:15016427|REF_RGD_ID:6484588
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:4362	cervical cancer		ISO	RGD:733213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733213	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:630	genetic disease		ISO	RGD:733213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:885	fascioliasis		ISO	RGD:2708	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:10431747|REF_RGD_ID:6484593
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:733213	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19500843
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1551567	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:spinal cord	PMID:9145307|REF_RGD_ID:6484657
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2708	D	RGD:9068941	20200609	RGD		protein:decreased activity:brain	PMID:7808037|REF_RGD_ID:6484655
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:9006828	Congenital Hyperinsulinism		ISO	RGD:733213	D	RGD:9068941	20260521	RGD		DNA:missense mutations: :	PMID:9571255|REF_RGD_ID:1302513
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:9007090	Experimental Seizures		ISO	RGD:2708	D	RGD:9068941	20241116	RGD			PMID:11240587|REF_RGD_ID:6484589
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:733213	D	RGD:9068941	20210604	CTD		CTD Direct Evidence: marker/mechanism	PMID:33483742
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733213	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10636977|PMID:19046187|PMID:19344873|PMID:23869231|PMID:25008049|PMID:25741868|PMID:26759084|PMID:27188453|PMID:28165182|PMID:28492532|PMID:9571255
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:9008972	Hyperammonemia		ISO	RGD:733213	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9571255
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:733213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:25741868
8834640	Glud1	glutamate dehydrogenase 1	gene	DOID:9993	hypoglycemia		ISO	RGD:733213	D	RGD:9068941	20200609	RGD		familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A	PMID:10636977|REF_RGD_ID:1601353
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0050902	medulloblastoma		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA | ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic	PMID:12068298|PMID:17452975|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:24728327|PMID:25326637|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27363716|PMID:27793025|PMID:27993330|PMID:28492532|PMID:28726821|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29641532|PMID:29725392|PMID:29753700|PMID:30256826|PMID:31774708|PMID:32295625|PMID:32330099|PMID:33024317|PMID:34070849|PMID:34308104|PMID:9536098
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0050902	medulloblastoma	susceptibility	ISO	RGD:1346700	D	RGD:7240710	20260729	OMIM			
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1559462	D	RGD:9068941	20220114	RGD		mRNA:decreased expression:stomach mucosa (rat)	PMID:30537251|REF_RGD_ID:150520178
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0070365	nevoid basal cell carcinoma syndrome 1		ISO	RGD:1346700	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Basal cell nevus syndrome 1	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29641532|PMID:34070849
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0070366	nevoid basal cell carcinoma syndrome 2		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Basal cell nevus syndrome 2 | ClinVar Annotator: match by term: NEVOID BASAL CELL CARCINOMA SYNDROME 2	PMID:12068298|PMID:17452975|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:25403219|PMID:25741868|PMID:28492532|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29725392|PMID:29753700|PMID:30192042|PMID:33024317|PMID:9536098
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0070366	nevoid basal cell carcinoma syndrome 2	susceptibility	ISO	RGD:1346700	D	RGD:7240710	20260729	OMIM			
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0080278	Joubert syndrome 32		ISO	RGD:1346700	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 32 | ClinVar Annotator: match by term: Joubert syndrome 32	PMID:25741868|PMID:26467025|PMID:28492532|PMID:28965847|PMID:34070849
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0080278	Joubert syndrome 32	susceptibility	ISO	RGD:1346700	D	RGD:7240710	20260729	OMIM			
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1346700	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified	PMID:25741868|PMID:28492532
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0080849	ocular motor apraxia, Cogan type		ISO	RGD:1346700	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Oculomotor apraxia - Cogan type	PMID:25741868|PMID:33024317
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:10283	prostate cancer		ISO	RGD:1346700	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:28492532
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:10283	prostate cancer		ISO	RGD:1346700	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	PMID:28492532
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:2120	focal dermal hypoplasia		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GORLIN-GOLTZ SYNDROME	PMID:28492532
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:2512	nevoid basal cell carcinoma syndrome		ISO	RGD:1346700	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome	PMID:12068298|PMID:16199547|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:23265383|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25403219|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29356994|PMID:29489754|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:31639285|PMID:32278351|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:36825822|PMID:9536098
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:2512	nevoid basal cell carcinoma syndrome		ISO	RGD:1346700	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome	PMID:12068298|PMID:16199547|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:23265383|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25403219|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29356994|PMID:29489754|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:31639285|PMID:32278351|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:34675124|PMID:35768194|PMID:36825822|PMID:9536098
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:2512	nevoid basal cell carcinoma syndrome		ISO	RGD:1346700	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES	PMID:12068298|PMID:16199547|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27153395|PMID:27363716|PMID:27793025|PMID:27930734|PMID:28030567|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29356994|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:31639285|PMID:31781912|PMID:32295625|PMID:32830346|PMID:33024317|PMID:33057194|PMID:33193598|PMID:33726816|PMID:34056767|PMID:34070849|PMID:34308104|PMID:34589056|PMID:34675124|PMID:35768194|PMID:35982159|PMID:9536098
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:2512	nevoid basal cell carcinoma syndrome		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES	PMID:12068298|PMID:16199547|PMID:17452975|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:24651015|PMID:24728327|PMID:25403219|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27793025|PMID:27930734|PMID:28030567|PMID:28492532|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29356994|PMID:29489754|PMID:29641532|PMID:29725392|PMID:29753700|PMID:30256826|PMID:31639285|PMID:31781912|PMID:32295625|PMID:33024317|PMID:34070849|PMID:34308104|PMID:34589056|PMID:34675124|PMID:9536098
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1346700	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26950094
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:3073	brain glioblastoma multiforme		ISO	RGD:1346700	D	RGD:9068941	20220114	RGD		human, rat, and/or mouse glioma cells in a mouse model	PMID:30790292|REF_RGD_ID:150573813
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:3073	brain glioblastoma multiforme		ISO	RGD:1556878	D	RGD:9068941	20220114	RGD		human, rat, and/or mouse glioma cells in a mouse model	PMID:30790292|REF_RGD_ID:150573813
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:3073	brain glioblastoma multiforme		ISO	RGD:1559462	D	RGD:9068941	20220114	RGD		human, rat, and/or mouse glioma cells in a mouse model	PMID:30790292|REF_RGD_ID:150573813
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:3081	cystic lymphangioma		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cystic hygroma	PMID:22958902|PMID:25741868
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma	PMID:16294371|PMID:27993330|PMID:29461635
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:3565	meningioma		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningioma	PMID:35101336
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:4586	familial meningioma		ISO	RGD:1346700	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to	PMID:22958902|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28965847|PMID:29641532|PMID:34070849
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:4586	familial meningioma	susceptibility	ISO	RGD:1346700	D	RGD:7240710	20260729	OMIM			
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:4621	holoprosencephaly		ISO	RGD:1346700	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microform holoprosencephaly	PMID:24728327|PMID:27363716|PMID:28492532
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16199547|PMID:22508808|PMID:25403219|PMID:28492532|PMID:33024317|PMID:34675124
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:8418	congenital fibrosarcoma		ISO	RGD:1346700	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Congenital fibrosarcoma	PMID:22508808|PMID:25403219|PMID:28492532|PMID:33024317|PMID:35768194
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9003145	Nuchal Bleb, Familial		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal cystic hygroma	PMID:22958902|PMID:25741868
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346700	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9006050	undifferentiated sarcoma		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: undifferentiated sarcoma	PMID:16294371|PMID:27993330|PMID:28726821|PMID:29461635
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:26467025|PMID:28492532
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1346700	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12068298|PMID:17102621|PMID:17576681|PMID:21188540|PMID:22508808|PMID:23826113|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26184317|PMID:26467025|PMID:26580448|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28166811|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:9536098
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1346700	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12068298|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:22958902|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:34675124|PMID:35768194|PMID:36825822|PMID:9536098
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1346700	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12068298|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:22958902|PMID:23826113|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27793025|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:34675124|PMID:35768194|PMID:36825822|PMID:37140698|PMID:9536098
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1346700	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12068298|PMID:16199547|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:22958902|PMID:23826113|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27153395|PMID:27363716|PMID:27793025|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:32295625|PMID:32830346|PMID:33024317|PMID:33057194|PMID:33193598|PMID:34056767|PMID:34070849|PMID:34589056|PMID:34675124|PMID:35768194|PMID:35982159|PMID:36825822|PMID:37140698|PMID:9536098
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1346700	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12068298|PMID:16199547|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:22958902|PMID:23826113|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27153395|PMID:27363716|PMID:27793025|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:32295625|PMID:32830346|PMID:33024317|PMID:33057194|PMID:33193598|PMID:34056767|PMID:34070849|PMID:34589056|PMID:34675124|PMID:35768194|PMID:35982159|PMID:36825822|PMID:37140698|PMID:37658656|PMID:9536098
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12068298|PMID:17452975|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:22958902|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27363716|PMID:27793025|PMID:28492532|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29641532|PMID:29725392|PMID:29753700|PMID:30256826|PMID:32295625|PMID:33024317|PMID:34070849|PMID:34308104|PMID:37140698|PMID:37658656|PMID:9536098
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8834662	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1346700	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
8834702	Ctsk	cathepsin K	gene	DOID:0050581	brachydactyly		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20044043|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:25741868|PMID:27558267|PMID:28492532|PMID:29796728|PMID:32883051|PMID:8703060|PMID:8938428|PMID:9529353
8834702	Ctsk	cathepsin K	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:10074491|PMID:17397052|PMID:20044043|PMID:20814951|PMID:21569238|PMID:25741868|PMID:27558267|PMID:28492532|PMID:29796728|PMID:32883051|PMID:8703060|PMID:9529353
8834702	Ctsk	cathepsin K	gene	DOID:0060249	scoliosis		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:10074491|PMID:17397052|PMID:20044043|PMID:20814951|PMID:21569238|PMID:24767306|PMID:25741868|PMID:27558267|PMID:28492532|PMID:29796728|PMID:31944631|PMID:32883051|PMID:8703060|PMID:9529353
8834702	Ctsk	cathepsin K	gene	DOID:0080038	pycnodysostosis		ISO	RGD:734172	D	RGD:7240710	20180130	OMIM			
8834702	Ctsk	cathepsin K	gene	DOID:0080038	pycnodysostosis		ISO	RGD:734172	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: PYCNODYSOSTOSIS | ClinVar Annotator: match by term: Pycnodysostosis | ClinVar Annotator: match by term: Pyknodysostosis | ClinVar Annotator: match by term: pycnodysostosis	PMID:10074491|PMID:10491211|PMID:10571690|PMID:10634420|PMID:10878663|PMID:11181082|PMID:12125807|PMID:12874701|PMID:15070910|PMID:16199547|PMID:17206399|PMID:17397052|PMID:19674475|PMID:20044043|PMID:20814951|PMID:21099701|PMID:21217630|PMID:21569238|PMID:22822386|PMID:23506830|PMID:23786531|PMID:24057333|PMID:24269275|PMID:24767306|PMID:25550899|PMID:25725806|PMID:25741868|PMID:26402641|PMID:26892377|PMID:27092432|PMID:27558267|PMID:28328823|PMID:28492532|PMID:29390266|PMID:29441215|PMID:29620724|PMID:29796728|PMID:30199612|PMID:31100385|PMID:31237352|PMID:31680459|PMID:31944631|PMID:32883051|PMID:33945887|PMID:33963797|PMID:35186389|PMID:35315254|PMID:37288425|PMID:37809147|PMID:8703060|PMID:8938428|PMID:9529353
8834702	Ctsk	cathepsin K	gene	DOID:0080087	nonsyndromic congenital nail disorder 9		ISO	RGD:734172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nail dysplasia	PMID:24767306|PMID:25741868|PMID:28492532|PMID:31944631
8834702	Ctsk	cathepsin K	gene	DOID:10534	stomach cancer		ISO	RGD:734172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8834702	Ctsk	cathepsin K	gene	DOID:10754	otitis media		ISO	RGD:61810	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:middle ear	PMID:15179208|REF_RGD_ID:1342442
8834702	Ctsk	cathepsin K	gene	DOID:10907	microcephaly		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:25741868|PMID:28492532|PMID:8703060|PMID:8938428
8834702	Ctsk	cathepsin K	gene	DOID:10941	intracranial aneurysm		ISO	RGD:61810	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain, artery	PMID:18635848|REF_RGD_ID:2306495
8834702	Ctsk	cathepsin K	gene	DOID:10941	intracranial aneurysm		ISO	RGD:734172	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, artery	PMID:18635848|REF_RGD_ID:2306495
8834702	Ctsk	cathepsin K	gene	DOID:11476	osteoporosis		ISO	RGD:62102	D	RGD:9068941	20200609	RGD			PMID:10469835|REF_RGD_ID:734856
8834702	Ctsk	cathepsin K	gene	DOID:13533	osteopetrosis		ISO	RGD:62102	D	RGD:9068941	20200609	RGD			PMID:10469835|REF_RGD_ID:734856
8834702	Ctsk	cathepsin K	gene	DOID:1909	melanoma		ISO	RGD:734172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8834702	Ctsk	cathepsin K	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20044043|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:24767306|PMID:25741868|PMID:27558267|PMID:28492532|PMID:29796728|PMID:31944631|PMID:32883051|PMID:8703060|PMID:8938428|PMID:9529353
8834702	Ctsk	cathepsin K	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8834702	Ctsk	cathepsin K	gene	DOID:2340	craniosynostosis		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:25741868|PMID:28492532|PMID:8703060|PMID:8938428
8834702	Ctsk	cathepsin K	gene	DOID:3068	glioblastoma		ISO	RGD:734172	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25356585
8834702	Ctsk	cathepsin K	gene	DOID:3275	thymoma		ISO	RGD:734172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8834702	Ctsk	cathepsin K	gene	DOID:4362	cervical cancer		ISO	RGD:734172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8834702	Ctsk	cathepsin K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834702	Ctsk	cathepsin K	gene	DOID:630	genetic disease		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10074491|PMID:17397052|PMID:20044043|PMID:20814951|PMID:21569238|PMID:25741868|PMID:27558267|PMID:28492532|PMID:29796728|PMID:32883051|PMID:8703060|PMID:9529353
8834702	Ctsk	cathepsin K	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8834702	Ctsk	cathepsin K	gene	DOID:693	dental enamel hypoplasia		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Enamel hypoplasia	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:24767306|PMID:25741868|PMID:28492532|PMID:31944631|PMID:8703060|PMID:8938428
8834702	Ctsk	cathepsin K	gene	DOID:824	periodontitis		ISO	RGD:734172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:24767306|PMID:25741868|PMID:28492532|PMID:31944631
8834702	Ctsk	cathepsin K	gene	DOID:8398	osteoarthritis		ISO	RGD:734172	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30664745
8834702	Ctsk	cathepsin K	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:61810	D	RGD:9068941	20230720	RGD		associated with hypertension, periodontal disease	PMID:33364953|REF_RGD_ID:329956421
8834702	Ctsk	cathepsin K	gene	DOID:9001031	Retrognathia		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:25741868|PMID:28492532|PMID:8703060|PMID:8938428
8834702	Ctsk	cathepsin K	gene	DOID:9001402	Acro-Osteolysis		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acroosteolysis	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:25741868|PMID:28492532|PMID:8703060|PMID:8938428
8834702	Ctsk	cathepsin K	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:61810	D	RGD:9068941	20200609	RGD		mRNA:increased expression:synovium, bone marrow	PMID:15353610|REF_RGD_ID:1601025
8834702	Ctsk	cathepsin K	gene	DOID:9002589	Bone Fractures		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:25741868|PMID:28492532|PMID:8703060|PMID:8938428
8834702	Ctsk	cathepsin K	gene	DOID:9003816	Macrocephaly		ISO	RGD:734172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:24767306|PMID:25741868|PMID:28492532|PMID:31944631
8834702	Ctsk	cathepsin K	gene	DOID:9005077	Joint Instability		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:25741868|PMID:28492532|PMID:8703060|PMID:8938428
8834702	Ctsk	cathepsin K	gene	DOID:9005616	Micrognathism		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:25741868|PMID:28492532|PMID:8703060|PMID:8938428
8834702	Ctsk	cathepsin K	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8834702	Ctsk	cathepsin K	gene	DOID:9007573	Flatfoot		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:10074491|PMID:17397052|PMID:20044043|PMID:20814951|PMID:21569238|PMID:25741868|PMID:27558267|PMID:28492532|PMID:29796728|PMID:32883051|PMID:8703060|PMID:9529353
8834702	Ctsk	cathepsin K	gene	DOID:9007661	Dwarfism		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20044043|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:24767306|PMID:25741868|PMID:27558267|PMID:28492532|PMID:29796728|PMID:31944631|PMID:32883051|PMID:8703060|PMID:8938428|PMID:9529353
8834702	Ctsk	cathepsin K	gene	DOID:930	orbital disease		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20044043|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:25741868|PMID:27558267|PMID:28492532|PMID:29796728|PMID:32883051|PMID:8703060|PMID:8938428|PMID:9529353
8834714	Cpa2	carboxypeptidase A2	gene	DOID:10534	stomach cancer		ISO	RGD:1313664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8834714	Cpa2	carboxypeptidase A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834714	Cpa2	carboxypeptidase A2	gene	DOID:9002669	Hypoxia		ISO	RGD:1313664	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19579223
8834743	Hlf	HLF transcription factor, PAR bZIP family member	gene	DOID:10283	prostate cancer		ISO	RGD:1347027	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8834743	Hlf	HLF transcription factor, PAR bZIP family member	gene	DOID:10283	prostate cancer		ISO	RGD:1347027	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8834743	Hlf	HLF transcription factor, PAR bZIP family member	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1347027	D	RGD:9068941	20220616	RGD		mRNA:altered expression:stomach tumor (human)	PMID:28035468|REF_RGD_ID:152995287
8834743	Hlf	HLF transcription factor, PAR bZIP family member	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8834743	Hlf	HLF transcription factor, PAR bZIP family member	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1347027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26214592
8834753	Dgkk	diacylglycerol kinase kappa	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8834753	Dgkk	diacylglycerol kinase kappa	gene	DOID:10892	hypospadias		ISO	RGD:1603361	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21113153|PMID:27098078
8834753	Dgkk	diacylglycerol kinase kappa	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8834753	Dgkk	diacylglycerol kinase kappa	gene	DOID:4362	cervical cancer		ISO	RGD:1603361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8834753	Dgkk	diacylglycerol kinase kappa	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8834753	Dgkk	diacylglycerol kinase kappa	gene	DOID:5041	esophageal cancer		ISO	RGD:1603361	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8834753	Dgkk	diacylglycerol kinase kappa	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834784	Mia3	MIA SH3 domain ER export factor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8834784	Mia3	MIA SH3 domain ER export factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8834784	Mia3	MIA SH3 domain ER export factor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1605216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8834784	Mia3	MIA SH3 domain ER export factor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8834784	Mia3	MIA SH3 domain ER export factor 3	gene	DOID:1115	sarcoma		ISO	RGD:1605216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8834784	Mia3	MIA SH3 domain ER export factor 3	gene	DOID:1909	melanoma		ISO	RGD:1605216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8834784	Mia3	MIA SH3 domain ER export factor 3	gene	DOID:3275	thymoma		ISO	RGD:1605216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8834784	Mia3	MIA SH3 domain ER export factor 3	gene	DOID:3393	coronary artery disease		ISO	RGD:1605216	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378990|PMID:34961328
8834784	Mia3	MIA SH3 domain ER export factor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1605216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8834784	Mia3	MIA SH3 domain ER export factor 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1605216	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8834784	Mia3	MIA SH3 domain ER export factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834784	Mia3	MIA SH3 domain ER export factor 3	gene	DOID:5844	myocardial infarction		ISO	RGD:1605216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19198609
8834784	Mia3	MIA SH3 domain ER export factor 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8834784	Mia3	MIA SH3 domain ER export factor 3	gene	DOID:630	genetic disease		ISO	RGD:1605216	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8834784	Mia3	MIA SH3 domain ER export factor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8834784	Mia3	MIA SH3 domain ER export factor 3	gene	DOID:9002545	Odontochondrodysplasia 2 with Hearing Loss and Diabetes		ISO	RGD:1605216	D	RGD:7240710	20210414	OMIM			
8834784	Mia3	MIA SH3 domain ER export factor 3	gene	DOID:9002545	Odontochondrodysplasia 2 with Hearing Loss and Diabetes		ISO	RGD:1605216	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Odontochondrodysplasia 2 with hearing loss and diabetes	PMID:25741868
8834784	Mia3	MIA SH3 domain ER export factor 3	gene	DOID:9003566	Mesothelioma		ISO	RGD:1605216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8834784	Mia3	MIA SH3 domain ER export factor 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8834784	Mia3	MIA SH3 domain ER export factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8834784	Mia3	MIA SH3 domain ER export factor 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1605216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8834818	Fshb	follicle stimulating hormone subunit beta	gene	DOID:0090088	hypogonadotropic hypogonadism 24 without anosmia		ISO	RGD:69084	D	RGD:7240710	20180130	OMIM			
8834818	Fshb	follicle stimulating hormone subunit beta	gene	DOID:12336	male infertility		ISO	RGD:69084	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:387166
8834818	Fshb	follicle stimulating hormone subunit beta	gene	DOID:13938	amenorrhea		ISO	RGD:69084	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8220432
8834818	Fshb	follicle stimulating hormone subunit beta	gene	DOID:13938	amenorrhea		ISO	RGD:69084	D	RGD:9068941	20200609	RGD		follicle-stimulating hormone deficiency,OMIM:229070;DNA:frameshift	PMID:8220432|REF_RGD_ID:1601221
8834818	Fshb	follicle stimulating hormone subunit beta	gene	DOID:14228	oligospermia		ISO	RGD:69084	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:4607150
8834818	Fshb	follicle stimulating hormone subunit beta	gene	DOID:1574	alcohol use disorder		ISO	RGD:69084	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8590623
8834818	Fshb	follicle stimulating hormone subunit beta	gene	DOID:1924	hypogonadism		ISO	RGD:69084	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:18449926|PMID:24739304|PMID:8263139
8834818	Fshb	follicle stimulating hormone subunit beta	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:69084	D	RGD:9068941	20200609	RGD		protein:increased expression:adenohypophysis (human)	PMID:20651845|REF_RGD_ID:28711759
8834818	Fshb	follicle stimulating hormone subunit beta	gene	DOID:3522	lateral medullary syndrome		ISO	RGD:69084	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17344003
8834818	Fshb	follicle stimulating hormone subunit beta	gene	DOID:9000972	Fever		ISO	RGD:69084	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:6350720
8834818	Fshb	follicle stimulating hormone subunit beta	gene	DOID:9007456	Female Infertility		ISO	RGD:69084	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8220432
8834822	Slc16a5	solute carrier family 16 member 5	gene	DOID:0060058	lymphoma		ISO	RGD:1351583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8834822	Slc16a5	solute carrier family 16 member 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8834822	Slc16a5	solute carrier family 16 member 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8834822	Slc16a5	solute carrier family 16 member 5	gene	DOID:3275	thymoma		ISO	RGD:1351583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8834822	Slc16a5	solute carrier family 16 member 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8834822	Slc16a5	solute carrier family 16 member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834822	Slc16a5	solute carrier family 16 member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8834839	Ppp1r14a	protein phosphatase 1 regulatory inhibitor subunit 14A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8834839	Ppp1r14a	protein phosphatase 1 regulatory inhibitor subunit 14A	gene	DOID:10534	stomach cancer	severity	ISO	RGD:733523	D	RGD:9068941	20220616	RGD		mRNA:altered expression:stomach tumor (human)	PMID:28035468|REF_RGD_ID:152995287
8834839	Ppp1r14a	protein phosphatase 1 regulatory inhibitor subunit 14A	gene	DOID:9003566	Mesothelioma		ISO	RGD:733523	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18835652
8834839	Ppp1r14a	protein phosphatase 1 regulatory inhibitor subunit 14A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8834839	Ppp1r14a	protein phosphatase 1 regulatory inhibitor subunit 14A	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:733523	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17892325
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1347407	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21317887
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:10283	prostate cancer		ISO	RGD:1347407	D	RGD:9068941	20220922	RGD		mRNA:splice variant:exon 2: (human)	PMID:32601196|REF_RGD_ID:155230826
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347407	D	RGD:9068941	20220922	RGD		mRNA:splice variant:exon 2: (human)	PMID:32601196|REF_RGD_ID:155230826
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:1107	esophageal carcinoma	exacerbates	ISO	RGD:1347407	D	RGD:9068941	20221020	RGD		mRNA:decreased expression:espohagus (human)	PMID:32831056|REF_RGD_ID:155630592
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:1115	sarcoma		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:1612	breast cancer		ISO	RGD:1347407	D	RGD:9068941	20220922	RGD		mRNA:splice variant:exon 2: (human)	PMID:32601196|REF_RGD_ID:155230826
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:1612	breast cancer	exacerbates	ISO	RGD:1557151	D	RGD:9068941	20220923	RGD			PMID:21317887|REF_RGD_ID:155249848
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:1909	melanoma		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:219	colon cancer		ISO	RGD:1347407	D	RGD:9068941	20220922	RGD		mRNA:splice variant:exon 2: (human)	PMID:32601196|REF_RGD_ID:155230826
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347407	D	RGD:9068941	20221020	RGD		human cell line and gene in a mouse model	PMID:18436711|REF_RGD_ID:155630593
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:2596	larynx cancer	ameliorates	ISO	RGD:1347407	D	RGD:9068941	20220923	RGD		mRNA:increased expression:larynx (human)	PMID:32791689|REF_RGD_ID:155256869
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:3275	thymoma		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:3905	lung carcinoma	exacerbates	ISO	RGD:1347407	D	RGD:9068941	20220923	RGD		DNA:missense mutation:CDS:p.E116K (human)	PMID:27028764|REF_RGD_ID:11529413
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1557151	D	RGD:9068941	20220923	RGD		mRNA:decreased expression:lung (human)	PMID:31089135|REF_RGD_ID:155253742
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:3908	lung non-small cell carcinoma	exacerbates	ISO	RGD:1557151	D	RGD:9068941	20220923	RGD			PMID:21317887|REF_RGD_ID:155249848
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:1347407	D	RGD:9068941	20220922	RGD		DNA:SNP:3' utr: (rs3679) (human)	PMID:27861856|REF_RGD_ID:155230827
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1347407	D	RGD:9068941	20220922	RGD		human gene in a mouse model	PMID:34236045|REF_RGD_ID:155230828
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:5419	schizophrenia		ISO	RGD:1557151	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:6000	congestive heart failure		ISO	RGD:1347407	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21284947
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:769	neuroblastoma		ISO	RGD:1347407	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROBLASTOMA	
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:8634	prostate carcinoma in situ	disease_progression	ISO	RGD:1347407	D	RGD:9068941	20200609	RGD		protein:increased expression	PMID:17577251|REF_RGD_ID:2293334
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:9000784	Fibrosis		ISO	RGD:1347407	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21284947
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1347407	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001)	PMID:17577251|REF_RGD_ID:2293334
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1557151	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001)	PMID:17577251|REF_RGD_ID:2293334
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:9002304	Prostatic Neoplasms	disease_progression	ISO	RGD:1557151	D	RGD:9068941	20200609	RGD		expression inhibits metastatic colonization of secondary sites by cancer cells in the AT6.1 model system	PMID:16322247|REF_RGD_ID:2293337
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:9002762	Ovarian Neoplasms	no_association	ISO	RGD:1557151	D	RGD:9068941	20200609	RGD		expression has no effect on metastatic colonization of secondary sites by cancer cells in the SKOV3ip.1 cell line model system	PMID:16489030|REF_RGD_ID:2293338
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1347407	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21317887
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1347407	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21317887
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:9006618	Liver Metastasis		ISO	RGD:1347407	D	RGD:9068941	20220923	RGD		associated with colon cancer;protein:increased expression:colon (human)	PMID:24533778|REF_RGD_ID:155259116
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1347407	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21317887
8834847	Map2k7	mitogen-activated protein kinase kinase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8834866	Ivd	isovaleryl-CoA dehydrogenase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
8834866	Ivd	isovaleryl-CoA dehydrogenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
8834866	Ivd	isovaleryl-CoA dehydrogenase	gene	DOID:1059	intellectual disability		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8834866	Ivd	isovaleryl-CoA dehydrogenase	gene	DOID:14753	isovaleric acidemia		ISO	RGD:735606	D	RGD:7240710	20180130	OMIM			
8834866	Ivd	isovaleryl-CoA dehydrogenase	gene	DOID:14753	isovaleric acidemia		ISO	RGD:735606	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ISOVALERIC ACIDEMIA | ClinVar Annotator: match by term: ISOVALERIC ACIDEMIA, TYPE I | ClinVar Annotator: match by term: ISOVALERIC ACIDEMIA, TYPE II | ClinVar Annotator: match by term: IVD deficiency | ClinVar Annotator: match by term: Isovaleric acidemia | ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency | ClinVar Annotator: match by term: Isovaleryl-coa dehydrogenase deficiency	PMID:10677295|PMID:10713113|PMID:12767731|PMID:1310317|PMID:15337167|PMID:15486829|PMID:16199547|PMID:16602101|PMID:16825284|PMID:17001642|PMID:17027310|PMID:17576084|PMID:17576681|PMID:19089597|PMID:19099814|PMID:20519759|PMID:2063866|PMID:22004070|PMID:22350545|PMID:22960500|PMID:2318964|PMID:24019846|PMID:24059531|PMID:24516753|PMID:25220015|PMID:25741868|PMID:26018748|PMID:26589311|PMID:26937393|PMID:26990548|PMID:27629047|PMID:27904153|PMID:28492532|PMID:28535199|PMID:28631226|PMID:29402417|PMID:30159853|PMID:30838026|PMID:30904546|PMID:30923063|PMID:31442447|PMID:31589614|PMID:31707166|PMID:31856096|PMID:31998365|PMID:32505769|PMID:32778825|PMID:32977617|PMID:33072985|PMID:33123633|PMID:33210480|PMID:33496032|PMID:33521113|PMID:33565069|PMID:33935161|PMID:34394177|PMID:34535384|PMID:34671977|PMID:35095998|PMID:35782626|PMID:35846131|PMID:36636590|PMID:37107695|PMID:37429829|PMID:38061323|PMID:38374194|PMID:38401345|PMID:38484105|PMID:38863445|PMID:39318119|PMID:40459186|PMID:9536098|PMID:9665741
8834866	Ivd	isovaleryl-CoA dehydrogenase	gene	DOID:1826	epilepsy		ISO	RGD:735606	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizure	PMID:16602101|PMID:25741868|PMID:28492532
8834866	Ivd	isovaleryl-CoA dehydrogenase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8834866	Ivd	isovaleryl-CoA dehydrogenase	gene	DOID:4362	cervical cancer		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8834866	Ivd	isovaleryl-CoA dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834866	Ivd	isovaleryl-CoA dehydrogenase	gene	DOID:630	genetic disease		ISO	RGD:735606	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8834866	Ivd	isovaleryl-CoA dehydrogenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
8834866	Ivd	isovaleryl-CoA dehydrogenase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735606	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8834866	Ivd	isovaleryl-CoA dehydrogenase	gene	DOID:9002395	Hypothermia		ISO	RGD:735606	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypothermia	PMID:25741868
8834866	Ivd	isovaleryl-CoA dehydrogenase	gene	DOID:9006253	Ketosis		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ketosis	PMID:25741868
8834866	Ivd	isovaleryl-CoA dehydrogenase	gene	DOID:9007993	Dehydration		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dehydration	PMID:25741868
8834866	Ivd	isovaleryl-CoA dehydrogenase	gene	DOID:9008617	Lethargy		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:25741868
8834866	Ivd	isovaleryl-CoA dehydrogenase	gene	DOID:9008972	Hyperammonemia		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:25741868
8834866	Ivd	isovaleryl-CoA dehydrogenase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8834866	Ivd	isovaleryl-CoA dehydrogenase	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:735606	D	RGD:9068941	20200609	RGD		isovaleric acidemia, OMIM:243500	PMID:2063866|REF_RGD_ID:1600039
8834882	Ptpn4	protein tyrosine phosphatase non-receptor type 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8834882	Ptpn4	protein tyrosine phosphatase non-receptor type 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8834882	Ptpn4	protein tyrosine phosphatase non-receptor type 4	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1316480	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868
8834882	Ptpn4	protein tyrosine phosphatase non-receptor type 4	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1316480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aganglionic megacolon	PMID:25741868|PMID:34527963
8834882	Ptpn4	protein tyrosine phosphatase non-receptor type 4	gene	DOID:10534	stomach cancer		ISO	RGD:1316480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8834882	Ptpn4	protein tyrosine phosphatase non-receptor type 4	gene	DOID:1059	intellectual disability		ISO	RGD:1316480	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8834882	Ptpn4	protein tyrosine phosphatase non-receptor type 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8834882	Ptpn4	protein tyrosine phosphatase non-receptor type 4	gene	DOID:1115	sarcoma		ISO	RGD:1316480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8834882	Ptpn4	protein tyrosine phosphatase non-receptor type 4	gene	DOID:12849	autistic disorder		ISO	RGD:1316480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
8834882	Ptpn4	protein tyrosine phosphatase non-receptor type 4	gene	DOID:1324	lung cancer		ISO	RGD:1316480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8834882	Ptpn4	protein tyrosine phosphatase non-receptor type 4	gene	DOID:1909	melanoma		ISO	RGD:1316480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8834882	Ptpn4	protein tyrosine phosphatase non-receptor type 4	gene	DOID:4362	cervical cancer		ISO	RGD:1316480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8834882	Ptpn4	protein tyrosine phosphatase non-receptor type 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8834882	Ptpn4	protein tyrosine phosphatase non-receptor type 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1316480	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8834882	Ptpn4	protein tyrosine phosphatase non-receptor type 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8834882	Ptpn4	protein tyrosine phosphatase non-receptor type 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834882	Ptpn4	protein tyrosine phosphatase non-receptor type 4	gene	DOID:630	genetic disease		ISO	RGD:1316480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25954003|PMID:27618451|PMID:28490743
8834882	Ptpn4	protein tyrosine phosphatase non-receptor type 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8834882	Ptpn4	protein tyrosine phosphatase non-receptor type 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316480	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:34527963
8834882	Ptpn4	protein tyrosine phosphatase non-receptor type 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8834882	Ptpn4	protein tyrosine phosphatase non-receptor type 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8834918	Nanos1	nanos C2HC-type zinc finger 1	gene	DOID:0070171	spermatogenic failure 12		ISO	RGD:1317831	D	RGD:7240710	20180130	OMIM			
8834918	Nanos1	nanos C2HC-type zinc finger 1	gene	DOID:0070171	spermatogenic failure 12		ISO	RGD:1317831	D	RGD:8554872	20250821	ClinVar		ClinVar Annotator: match by term: NANOS1-related disorder | ClinVar Annotator: match by term: Spermatogenic failure 12	PMID:25741868|PMID:28492532
8834918	Nanos1	nanos C2HC-type zinc finger 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1317831	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
8834922	Dmpk	DM1 protein kinase	gene	DOID:1115	sarcoma		ISO	RGD:1320371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8834922	Dmpk	DM1 protein kinase	gene	DOID:11722	myotonic dystrophy type 1		ISO	RGD:1320371	D	RGD:7240710	20180130	OMIM			
8834922	Dmpk	DM1 protein kinase	gene	DOID:11722	myotonic dystrophy type 1		ISO	RGD:1320371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DMPK-related condition | ClinVar Annotator: match by term: Steinert myotonic dystrophy syndrome	PMID:18414213|PMID:25741868
8834922	Dmpk	DM1 protein kinase	gene	DOID:1324	lung cancer		ISO	RGD:1320371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8834922	Dmpk	DM1 protein kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1320371	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8834922	Dmpk	DM1 protein kinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8834922	Dmpk	DM1 protein kinase	gene	DOID:450	myotonic disease		ISO	RGD:1320371	D	RGD:9068941	20220707	CTD		CTD Direct Evidence: marker/mechanism	PMID:24039817|PMID:27030674
8834922	Dmpk	DM1 protein kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834922	Dmpk	DM1 protein kinase	gene	DOID:630	genetic disease		ISO	RGD:1320371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8834922	Dmpk	DM1 protein kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8834922	Dmpk	DM1 protein kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
8834922	Dmpk	DM1 protein kinase	gene	DOID:9008993	Myotonia		ISO	RGD:1320371	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24039817
8834957	Bnc2	basonuclin zinc finger protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8834957	Bnc2	basonuclin zinc finger protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8834957	Bnc2	basonuclin zinc finger protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8834957	Bnc2	basonuclin zinc finger protein 2	gene	DOID:1909	melanoma		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8834957	Bnc2	basonuclin zinc finger protein 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1321747	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8834957	Bnc2	basonuclin zinc finger protein 2	gene	DOID:3275	thymoma		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8834957	Bnc2	basonuclin zinc finger protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8834957	Bnc2	basonuclin zinc finger protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321747	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8834957	Bnc2	basonuclin zinc finger protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834957	Bnc2	basonuclin zinc finger protein 2	gene	DOID:630	genetic disease		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8834957	Bnc2	basonuclin zinc finger protein 2	gene	DOID:674	cleft palate		ISO	RGD:1321747	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19706529
8834957	Bnc2	basonuclin zinc finger protein 2	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1321747	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20852632
8834957	Bnc2	basonuclin zinc finger protein 2	gene	DOID:9006024	Hypotension		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotension	PMID:25741868|PMID:28492532
8834957	Bnc2	basonuclin zinc finger protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8834957	Bnc2	basonuclin zinc finger protein 2	gene	DOID:9007386	Congenital Lower Urinary Tract Obstruction		ISO	RGD:1321747	D	RGD:7240710	20191113	OMIM			
8834957	Bnc2	basonuclin zinc finger protein 2	gene	DOID:9007386	Congenital Lower Urinary Tract Obstruction		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BNC2-related condition | ClinVar Annotator: match by term: LOWER URINARY TRACT OBSTRUCTION, CONGENITAL | ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital | ClinVar Annotator: match by term: lower urinary tract obstruction, congenital	PMID:24033266|PMID:25605705|PMID:25741868|PMID:28492532|PMID:31051115
8834957	Bnc2	basonuclin zinc finger protein 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1321747	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19706529
8834957	Bnc2	basonuclin zinc finger protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8834985	Ppil1	peptidylprolyl isomerase like 1	gene	DOID:0060264	pontocerebellar hypoplasia		ISO	RGD:1319281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia	PMID:33220177
8834985	Ppil1	peptidylprolyl isomerase like 1	gene	DOID:0112325	pontocerebellar hypoplasia type 14		ISO	RGD:1319281	D	RGD:7240710	20210505	OMIM			
8834985	Ppil1	peptidylprolyl isomerase like 1	gene	DOID:0112325	pontocerebellar hypoplasia type 14		ISO	RGD:1319281	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 14	PMID:24033266|PMID:25741868|PMID:33220177
8834985	Ppil1	peptidylprolyl isomerase like 1	gene	DOID:10907	microcephaly		ISO	RGD:1319282	D	RGD:9068941	20220825	MouseDO			
8834985	Ppil1	peptidylprolyl isomerase like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8834985	Ppil1	peptidylprolyl isomerase like 1	gene	DOID:630	genetic disease		ISO	RGD:1319281	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8835000	Eno1	enolase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8835000	Eno1	enolase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835000	Eno1	enolase 1	gene	DOID:0080600	COVID-19		ISO	RGD:735808	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8835000	Eno1	enolase 1	gene	DOID:10534	stomach cancer		ISO	RGD:735808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8835000	Eno1	enolase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19374891
8835000	Eno1	enolase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735808	D	RGD:9068941	20200609	RGD		protein:increased S-glutathionylation, decreased activity:inferior parietal cortex	PMID:17387692|REF_RGD_ID:13792613
8835000	Eno1	enolase 1	gene	DOID:10763	hypertension		ISO	RGD:2553	D	RGD:9068941	20200609	RGD			PMID:16485256|REF_RGD_ID:1598909
8835000	Eno1	enolase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8835000	Eno1	enolase 1	gene	DOID:11476	osteoporosis		ISO	RGD:735808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
8835000	Eno1	enolase 1	gene	DOID:12336	male infertility		ISO	RGD:735808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27460355
8835000	Eno1	enolase 1	gene	DOID:1324	lung cancer		ISO	RGD:735808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8835000	Eno1	enolase 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:735808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
8835000	Eno1	enolase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:735808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8835000	Eno1	enolase 1	gene	DOID:299	adenocarcinoma		ISO	RGD:735808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
8835000	Eno1	enolase 1	gene	DOID:305	carcinoma		ISO	RGD:735808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8835000	Eno1	enolase 1	gene	DOID:3070	high grade glioma		ISO	RGD:735808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8835000	Eno1	enolase 1	gene	DOID:3275	thymoma		ISO	RGD:735808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8835000	Eno1	enolase 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:735808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17094902
8835000	Eno1	enolase 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:735808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19381893|PMID:27602772
8835000	Eno1	enolase 1	gene	DOID:4362	cervical cancer		ISO	RGD:735808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8835000	Eno1	enolase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8835000	Eno1	enolase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835000	Eno1	enolase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8835000	Eno1	enolase 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:735808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19898480
8835000	Eno1	enolase 1	gene	DOID:8398	osteoarthritis		ISO	RGD:735808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8835000	Eno1	enolase 1	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:735808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18806098
8835000	Eno1	enolase 1	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:735808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15986332
8835000	Eno1	enolase 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:735808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
8835000	Eno1	enolase 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:735808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8835000	Eno1	enolase 1	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:735808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
8835000	Eno1	enolase 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:735808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15654357
8835000	Eno1	enolase 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:735808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
8835000	Eno1	enolase 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:735808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8835000	Eno1	enolase 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:735808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8835000	Eno1	enolase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8835000	Eno1	enolase 1	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:735808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
8835000	Eno1	enolase 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:735808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16099942|PMID:25231249
8835000	Eno1	enolase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:735808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19655245
8835000	Eno1	enolase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8835000	Eno1	enolase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:0060479	Shwachman-Diamond syndrome		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Shwachman syndrome	PMID:25741868
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:0112295	spondylometaphyseal dysplasia		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spondylometaphyseal dysplasia	PMID:25741868|PMID:28492532
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:25741868|PMID:28492532
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:10907	microcephaly		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:1143	exotropia		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:28492532
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:11782	astigmatism		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:28492532
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:12215	oligohydramnios		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868|PMID:28492532
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868|PMID:28492532
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:13316	exocrine pancreatic insufficiency		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exocrine pancreatic insufficiency	PMID:25741868|PMID:28492532
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:28492532
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1352796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25015090
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:4667	kyphosis		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:25741868|PMID:28492532
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352796	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:630	genetic disease		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:9001722	Dysarthria		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:28492532
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:9001923	Foveal Hypoplasia		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Foveal hypoplasia	PMID:25741868|PMID:28492532
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:9004552	Genu Varum		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu varum	PMID:25741868|PMID:28492532
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:9009168	Shwachman-Diamond Syndrome 2		ISO	RGD:1352796	D	RGD:7240710	20190315	OMIM			
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:9009168	Shwachman-Diamond Syndrome 2		ISO	RGD:1352796	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EFL1-related condition | ClinVar Annotator: match by term: SHWACHMAN-DIAMOND SYNDROME 2 | ClinVar Annotator: match by term: Shwachman-Diamond syndrome 2	PMID:25741868|PMID:28331068|PMID:28492532|PMID:31151987|PMID:34115847
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1352796	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: POLE-related polyposis and colorectal cancer syndrome	PMID:28492532
8835037	Efl1	elongation factor like GTPase 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:25741868|PMID:28492532
8835072	Chga	chromogranin A	gene	DOID:0050771	pheochromocytoma		ISO	RGD:730836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11116123
8835072	Chga	chromogranin A	gene	DOID:0050771	pheochromocytoma	disease_progression	ISO	RGD:730836	D	RGD:9068941	20200609	RGD			PMID:2189303|REF_RGD_ID:6906907
8835072	Chga	chromogranin A	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:730836	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.E264D (human)	PMID:20663522|REF_RGD_ID:6906901
8835072	Chga	chromogranin A	gene	DOID:10763	hypertension		ISO	RGD:10339	D	RGD:9068941	20200609	RGD			PMID:20729505|REF_RGD_ID:6906900
8835072	Chga	chromogranin A	gene	DOID:10763	hypertension		ISO	RGD:10339	D	RGD:9068941	20200609	RGD		protein:creased expression:adrenal gland	PMID:10803489|REF_RGD_ID:6907055
8835072	Chga	chromogranin A	gene	DOID:10763	hypertension		ISO	RGD:2338	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:adrenal gland medulla, plasma	PMID:10803489|REF_RGD_ID:6907055
8835072	Chga	chromogranin A	gene	DOID:10763	hypertension		ISO	RGD:730836	D	RGD:9068941	20200609	RGD			PMID:21061160|REF_RGD_ID:6906897
8835072	Chga	chromogranin A	gene	DOID:10763	hypertension	no_association	ISO	RGD:730836	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:promoter	PMID:20113265|REF_RGD_ID:6906902
8835072	Chga	chromogranin A	gene	DOID:2513	basal cell carcinoma		ISO	RGD:730836	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
8835072	Chga	chromogranin A	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:730836	D	RGD:9068941	20200609	RGD		associated with Hypertension;DNA:polymorphism:promoter:-415T>C (human)	PMID:20113265|REF_RGD_ID:6906902
8835072	Chga	chromogranin A	gene	DOID:3275	thymoma		ISO	RGD:730836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8835072	Chga	chromogranin A	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:730836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21595568
8835072	Chga	chromogranin A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835072	Chga	chromogranin A	gene	DOID:783	end stage renal disease		ISO	RGD:730836	D	RGD:9068941	20200609	RGD		associated with Hypertension;DNA:polymorphisms, haplotypes:promoter, 3' utr:multiple	PMID:18235090|REF_RGD_ID:6906903
8835072	Chga	chromogranin A	gene	DOID:783	end stage renal disease		ISO	RGD:730836	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20730520|REF_RGD_ID:6906898
8835072	Chga	chromogranin A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8835072	Chga	chromogranin A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:730836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8835092	Slc25a3	solute carrier family 25 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835092	Slc25a3	solute carrier family 25 member 3	gene	DOID:1909	melanoma		ISO	RGD:732727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8835092	Slc25a3	solute carrier family 25 member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8835092	Slc25a3	solute carrier family 25 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835092	Slc25a3	solute carrier family 25 member 3	gene	DOID:9006387	Mitochondrial Phosphate Carrier Deficiency		ISO	RGD:732727	D	RGD:7240710	20180130	OMIM			
8835092	Slc25a3	solute carrier family 25 member 3	gene	DOID:9006387	Mitochondrial Phosphate Carrier Deficiency		ISO	RGD:732727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy-hypotonia-lactic acidosis syndrome | ClinVar Annotator: match by term: MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY | ClinVar Annotator: match by term: SLC25A3-related condition	PMID:17576681|PMID:21763135|PMID:25681081|PMID:25741868|PMID:28492532|PMID:34052969|PMID:9536098
8835135	Atf4	activating transcription factor 4	gene	DOID:0060478	Zika fever		ISO	RGD:733713	D	RGD:9068941	20200702	RGD		mRNA:increased expression:brain	PMID:30241539|REF_RGD_ID:32733625
8835135	Atf4	activating transcription factor 4	gene	DOID:10286	prostate carcinoma	treatment	ISO	RGD:733712	D	RGD:9068941	20200609	RGD			PMID:25680860|REF_RGD_ID:13504680
8835135	Atf4	activating transcription factor 4	gene	DOID:11132	prostatic hypertrophy		ISO	RGD:733713	D	RGD:9068941	20200609	RGD			PMID:28988820|REF_RGD_ID:13504679
8835135	Atf4	activating transcription factor 4	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:733712	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14604972
8835135	Atf4	activating transcription factor 4	gene	DOID:3275	thymoma		ISO	RGD:733712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8835135	Atf4	activating transcription factor 4	gene	DOID:5154	borna disease		ISO	RGD:621863	D	RGD:9068941	20200702	RGD		protein:increased expression:cerebellum	PMID:16912310|REF_RGD_ID:32733622
8835135	Atf4	activating transcription factor 4	gene	DOID:5453	pulmonary venoocclusive disease		ISO	RGD:621863	D	RGD:9068941	20200903	RGD		protein:increased expression:lung	PMID:32209028|REF_RGD_ID:38549370
8835135	Atf4	activating transcription factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835135	Atf4	activating transcription factor 4	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:733712	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29793971
8835135	Atf4	activating transcription factor 4	gene	DOID:9002669	Hypoxia		ISO	RGD:733712	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14604972
8835135	Atf4	activating transcription factor 4	gene	DOID:9005749	Necrosis		ISO	RGD:733712	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14604972
8835135	Atf4	activating transcription factor 4	gene	DOID:9452	steatotic liver disease		ISO	RGD:733712	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27664470
8835147	Trpv6	transient receptor potential cation channel subfamily V member 6	gene	DOID:10591	pre-eclampsia		ISO	RGD:731367	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
8835147	Trpv6	transient receptor potential cation channel subfamily V member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8835147	Trpv6	transient receptor potential cation channel subfamily V member 6	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:731367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8835147	Trpv6	transient receptor potential cation channel subfamily V member 6	gene	DOID:11714	gestational diabetes		ISO	RGD:731367	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
8835147	Trpv6	transient receptor potential cation channel subfamily V member 6	gene	DOID:13543	hyperparathyroidism		ISO	RGD:731367	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperparathyroidism	PMID:25741868
8835147	Trpv6	transient receptor potential cation channel subfamily V member 6	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:731367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868
8835147	Trpv6	transient receptor potential cation channel subfamily V member 6	gene	DOID:2340	craniosynostosis		ISO	RGD:731367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
8835147	Trpv6	transient receptor potential cation channel subfamily V member 6	gene	DOID:4362	cervical cancer		ISO	RGD:731367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8835147	Trpv6	transient receptor potential cation channel subfamily V member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835147	Trpv6	transient receptor potential cation channel subfamily V member 6	gene	DOID:630	genetic disease		ISO	RGD:731367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31930989|PMID:32383311|PMID:34538581|PMID:34923708|PMID:37810884
8835147	Trpv6	transient receptor potential cation channel subfamily V member 6	gene	DOID:9003507	Premature Birth		ISO	RGD:731367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
8835147	Trpv6	transient receptor potential cation channel subfamily V member 6	gene	DOID:9004047	Transient Neonatal Hyperparathyroidism		ISO	RGD:731367	D	RGD:7240710	20190315	OMIM			
8835147	Trpv6	transient receptor potential cation channel subfamily V member 6	gene	DOID:9004047	Transient Neonatal Hyperparathyroidism		ISO	RGD:731367	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: HYPERPARATHYROIDISM, TRANSIENT NEONATAL | ClinVar Annotator: match by term: Hyperparathyroidism, transient neonatal | ClinVar Annotator: match by term: TRPV6-related condition	PMID:25741868|PMID:25741888|PMID:27296226|PMID:28492532|PMID:28878326|PMID:29068549|PMID:29258289|PMID:29861107|PMID:30820485|PMID:31930989|PMID:32383311|PMID:32646367|PMID:36599151
8835147	Trpv6	transient receptor potential cation channel subfamily V member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8835166	Krtcap3	keratinocyte associated protein 3	gene	DOID:0110091	short-rib thoracic dysplasia 10 with or without polydactyly		ISO	RGD:126737422|RGD:126738155|RGD:126754398|RGD:126756911|RGD:126759608|RGD:126762386|RGD:126767633|RGD:126769420|RGD:126919869|RGD:126920116|RGD:127239539|RGD:127244685|RGD:127245396|RGD:127306934|RGD:127314759|RGD:13625180|RGD:151715581|RGD:151716642|RGD:151721569|RGD:151724126|RGD:151768481|RGD:151780156|RGD:151784335|RGD:151784457|RGD:151790326|RGD:151792298|RGD:151792695|RGD:151793266|RGD:151795169|RGD:151804133|RGD:151811659|RGD:151816444|RGD:15182251|RGD:151823055|RGD:151833475|RGD:152046201|RGD:152046383|RGD:152048075|RGD:152048847|RGD:152049386|RGD:152049513|RGD:152049550|RGD:152049987|RGD:152052028|RGD:152053701|RGD:152055841|RGD:152055898|RGD:152056821|RGD:152057388|RGD:152057566|RGD:152058806|RGD:152061286|RGD:152061353|RGD:153345834|RGD:155677957|RGD:155942943|RGD:155971139|RGD:155996587|RGD:156010381|RGD:156010627|RGD:156011508|RGD:156017304|RGD:156026454|RGD:156042988|RGD:156049504|RGD:156066461|RGD:156088178|RGD:156089729|RGD:156092604|RGD:156098062|RGD:156123304|RGD:156123913|RGD:156136690|RGD:156154539|RGD:156214078|RGD:156215520|RGD:156219978|RGD:156220861|RGD:156243626|RGD:156262010|RGD:156263217|RGD:156303229|RGD:156320924|RGD:156329294|RGD:156336022|RGD:156339969|RGD:156362694|RGD:156370642|RGD:156378110|RGD:156394180|RGD:26889115|RGD:26900031|RGD:26907434|RGD:38464856|RGD:38476467|RGD:38497256|RGD:38498707|RGD:402483528|RGD:402496931|RGD:402502179|RGD:402524824|RGD:404988020|RGD:404997644|RGD:405006831|RGD:405012585|RGD:405024814|RGD:405058921|RGD:405090510|RGD:405128343	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 without polydactyly	PMID:28492532
8835166	Krtcap3	keratinocyte associated protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8835166	Krtcap3	keratinocyte associated protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8835166	Krtcap3	keratinocyte associated protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835166	Krtcap3	keratinocyte associated protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8835166	Krtcap3	keratinocyte associated protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8835166	Krtcap3	keratinocyte associated protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8835181	Cenpb	centromere protein B	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1312443	D	RGD:9068941	20200609	RGD			PMID:8911074|REF_RGD_ID:27226708
8835181	Cenpb	centromere protein B	gene	DOID:2952	inner ear disease		ISO	RGD:1312443	D	RGD:9068941	20200609	RGD		associated with  limited scleroderma	PMID:18520322|REF_RGD_ID:27226707
8835185	Azin2	antizyme inhibitor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8835185	Azin2	antizyme inhibitor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835185	Azin2	antizyme inhibitor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606188	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8835185	Azin2	antizyme inhibitor 2	gene	DOID:1115	sarcoma		ISO	RGD:1606188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8835185	Azin2	antizyme inhibitor 2	gene	DOID:1909	melanoma		ISO	RGD:1606188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8835185	Azin2	antizyme inhibitor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8835185	Azin2	antizyme inhibitor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606188	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8835185	Azin2	antizyme inhibitor 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1606188	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8835204	Efnb3	ephrin B3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835204	Efnb3	ephrin B3	gene	DOID:1115	sarcoma		ISO	RGD:1346330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8835204	Efnb3	ephrin B3	gene	DOID:480	movement disease		ISO	RGD:10509	D	RGD:9068941	20220825	MouseDO			
8835204	Efnb3	ephrin B3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8835204	Efnb3	ephrin B3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8835204	Efnb3	ephrin B3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8835217	Th	tyrosine hydroxylase	gene	DOID:0050664	Bietti crystalline corneoretinal dystrophy		ISO	RGD:733897	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy	PMID:25741868
8835217	Th	tyrosine hydroxylase	gene	DOID:0050771	pheochromocytoma		ISO	RGD:733897	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22569243
8835217	Th	tyrosine hydroxylase	gene	DOID:0050835	generalized dystonia		ISO	RGD:733897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized dystonia	PMID:22572540|PMID:24275212|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30455893|PMID:35083481
8835217	Th	tyrosine hydroxylase	gene	DOID:0051059	autosomal recessive Segawa syndrome		ISO	RGD:733897	D	RGD:7240710	20180130	OMIM			
8835217	Th	tyrosine hydroxylase	gene	DOID:0051059	autosomal recessive Segawa syndrome		ISO	RGD:733897	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia | ClinVar Annotator: match by term: Autosomal recessive Segawa syndrome | ClinVar Annotator: match by term: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive | ClinVar Annotator: match by term: TH-deficient dopa-responsive dystonia	PMID:10407773|PMID:10585338|PMID:10753262|PMID:11160968|PMID:11246459|PMID:12891655|PMID:15468323|PMID:15505183|PMID:15747353|PMID:16049992|PMID:16199547|PMID:16376043|PMID:17576681|PMID:17696123|PMID:17698383|PMID:18058633|PMID:18554280|PMID:19224593|PMID:19282209|PMID:19491146|PMID:20056467|PMID:2019643|PMID:20198643|PMID:20301610|PMID:20399390|PMID:20430833|PMID:20492352|PMID:20823027|PMID:21465550|PMID:21937992|PMID:22264700|PMID:22572540|PMID:22583432|PMID:22815559|PMID:23480488|PMID:23762320|PMID:23939262|PMID:24033266|PMID:24275212|PMID:24753243|PMID:25181484|PMID:25224241|PMID:25468651|PMID:25741868|PMID:25758715|PMID:25910213|PMID:26220941|PMID:26276013|PMID:26467025|PMID:26686676|PMID:26806338|PMID:27165006|PMID:27185167|PMID:27619486|PMID:27934587|PMID:27973928|PMID:28087438|PMID:28492532|PMID:28667724|PMID:28726809|PMID:29126763|PMID:29225908|PMID:29405179|PMID:29724574|PMID:29801903|PMID:30109838|PMID:30455893|PMID:31019026|PMID:31130284|PMID:31273557|PMID:31392251|PMID:31419477|PMID:32005694|PMID:32018151|PMID:32153140|PMID:32185155|PMID:32395404|PMID:32872068|PMID:33072517|PMID:33233562|PMID:33627497|PMID:33742171|PMID:34054692|PMID:35083481|PMID:35164471|PMID:36054588|PMID:36101825|PMID:36568392|PMID:37840187|PMID:38010701|PMID:38084654|PMID:38196161|PMID:38492469|PMID:38693247|PMID:7789962|PMID:7814018|PMID:7910484|PMID:7964718|PMID:8528210|PMID:8817341|PMID:9235905|PMID:9536098|PMID:9703425|PMID:9754624
8835217	Th	tyrosine hydroxylase	gene	DOID:0060001	withdrawal disorder		ISO	RGD:3853	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:brainstem (rat)	PMID:20973778|REF_RGD_ID:5128830
8835217	Th	tyrosine hydroxylase	gene	DOID:0060260	ptosis		ISO	RGD:733897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:20056467|PMID:20823027|PMID:25741868
8835217	Th	tyrosine hydroxylase	gene	DOID:0060334	transient neonatal diabetes mellitus		ISO	RGD:11665586	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Transient neonatal diabetes mellitus	PMID:25741868|PMID:26467025
8835217	Th	tyrosine hydroxylase	gene	DOID:0080855	Parkinsonism		ISO	RGD:3853	D	RGD:9068941	20200609	RGD		protein:decreased expression:striatum	PMID:20561938|REF_RGD_ID:13524532
8835217	Th	tyrosine hydroxylase	gene	DOID:0080855	Parkinsonism		ISO	RGD:733897	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11246459|PMID:8817341
8835217	Th	tyrosine hydroxylase	gene	DOID:0080855	Parkinsonism	susceptibility	ISO	RGD:733897	D	RGD:9068941	20200609	RGD		Segawa syndrome,autosomal recessive, OMIM:605407;DNA:missense mutation:exon:p.Q381L	PMID:7814018|REF_RGD_ID:1601634
8835217	Th	tyrosine hydroxylase	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:733897	D	RGD:9068941	20230803	RGD			PMID:23831692|REF_RGD_ID:401700381
8835217	Th	tyrosine hydroxylase	gene	DOID:0081292	traumatic brain injury		ISO	RGD:3853	D	RGD:9068941	20250308	RGD		mRNA:increased expression:locus coeruleus	PMID:25525686|REF_RGD_ID:597830164
8835217	Th	tyrosine hydroxylase	gene	DOID:0111428	essential tremor 1		ISO	RGD:733897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:20056467|PMID:20823027|PMID:25741868
8835217	Th	tyrosine hydroxylase	gene	DOID:10534	stomach cancer		ISO	RGD:733897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:26467025|PMID:28492532
8835217	Th	tyrosine hydroxylase	gene	DOID:10579	leukodystrophy		ISO	RGD:733897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868|PMID:28492532|PMID:33233562
8835217	Th	tyrosine hydroxylase	gene	DOID:1059	intellectual disability		ISO	RGD:733897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:33233562
8835217	Th	tyrosine hydroxylase	gene	DOID:10762	portal hypertension		ISO	RGD:3853	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:superior mesenteric artery (rat)	PMID:19968782|REF_RGD_ID:5129480
8835217	Th	tyrosine hydroxylase	gene	DOID:10763	hypertension		ISO	RGD:3853	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:16650497|REF_RGD_ID:1601630
8835217	Th	tyrosine hydroxylase	gene	DOID:10763	hypertension		ISO	RGD:733897	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:27659729|PMID:32147540|PMID:32165127
8835217	Th	tyrosine hydroxylase	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:733897	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron:g.1090T>C rs2070762 (human)	PMID:16636198|REF_RGD_ID:1601631
8835217	Th	tyrosine hydroxylase	gene	DOID:10825	essential hypertension		ISO	RGD:733897	D	RGD:9068941	20221110	CTD		CTD Direct Evidence: marker/mechanism	PMID:34453990
8835217	Th	tyrosine hydroxylase	gene	DOID:114	heart disease		ISO	RGD:733897	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9822156
8835217	Th	tyrosine hydroxylase	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:3853	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:ovary	PMID:15795180|REF_RGD_ID:5508374
8835217	Th	tyrosine hydroxylase	gene	DOID:12217	Lewy body dementia		ISO	RGD:733897	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30236862
8835217	Th	tyrosine hydroxylase	gene	DOID:12700	hyperprolactinemia		ISO	RGD:3853	D	RGD:9068941	20200609	RGD		protein:increased tyrosine nitration:hypothalamus, median eminence (rat)	PMID:21178126|REF_RGD_ID:5128768
8835217	Th	tyrosine hydroxylase	gene	DOID:12700	hyperprolactinemia	treatment	ISO	RGD:3853	D	RGD:9068941	20200609	RGD			PMID:26297122|REF_RGD_ID:13506955
8835217	Th	tyrosine hydroxylase	gene	DOID:14330	Parkinson's disease		ISO	RGD:11414	D	RGD:9068941	20200609	RGD		protein:decreased expression:substantia nigra (mouse)	PMID:21323909|REF_RGD_ID:5128616
8835217	Th	tyrosine hydroxylase	gene	DOID:14330	Parkinson's disease		ISO	RGD:3853	D	RGD:9068941	20200609	RGD			PMID:2573072|REF_RGD_ID:5129120
8835217	Th	tyrosine hydroxylase	gene	DOID:14330	Parkinson's disease		ISO	RGD:3853	D	RGD:9068941	20200609	RGD		protein:decreased expression:midbrain, neuron (rat)	PMID:21376343|REF_RGD_ID:5128607
8835217	Th	tyrosine hydroxylase	gene	DOID:14330	Parkinson's disease		ISO	RGD:3853	D	RGD:9068941	20250424	RGD		protein:decreased expression:brain	PMID:33571554|REF_RGD_ID:598148160
8835217	Th	tyrosine hydroxylase	gene	DOID:14330	Parkinson's disease		ISO	RGD:733897	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30236862
8835217	Th	tyrosine hydroxylase	gene	DOID:14330	Parkinson's disease		ISO	RGD:733897	D	RGD:9068941	20200609	RGD		human gene in a rat model	PMID:9853519|REF_RGD_ID:5129121
8835217	Th	tyrosine hydroxylase	gene	DOID:14330	Parkinson's disease		ISO	RGD:733897	D	RGD:9068941	20200609	RGD		protein:decreased expression:striatum (human)	PMID:15857400|REF_RGD_ID:2289955
8835217	Th	tyrosine hydroxylase	gene	DOID:1440	Machado-Joseph disease		ISO	RGD:3853	D	RGD:9068941	20200609	RGD		protein:decreased expression:substantia nigra (rat)	PMID:18385100|REF_RGD_ID:5131159
8835217	Th	tyrosine hydroxylase	gene	DOID:1596	depressive disorder		ISO	RGD:3853	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:hippocampus:	PMID:24495952|REF_RGD_ID:9681459
8835217	Th	tyrosine hydroxylase	gene	DOID:1826	epilepsy		ISO	RGD:733897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8835217	Th	tyrosine hydroxylase	gene	DOID:2316	brain ischemia		ISO	RGD:3853	D	RGD:9068941	20200609	RGD		protein:decreased expression:solitary tract nucleus, medulla oblongata, locus coeruleus (rat)	PMID:18356740|REF_RGD_ID:5129691
8835217	Th	tyrosine hydroxylase	gene	DOID:3275	thymoma		ISO	RGD:733897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8835217	Th	tyrosine hydroxylase	gene	DOID:3459	breast carcinoma		ISO	RGD:733897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:26467025|PMID:28492532
8835217	Th	tyrosine hydroxylase	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:3853	D	RGD:9068941	20200609	RGD		protein:decreased expression:substantia nigra pars compacta, neuron (rat)	PMID:21366664|REF_RGD_ID:5128609
8835217	Th	tyrosine hydroxylase	gene	DOID:4676	uremia		ISO	RGD:3853	D	RGD:9068941	20200609	RGD		protein:decreased activity:brain (rat)	PMID:2875142|REF_RGD_ID:5128603
8835217	Th	tyrosine hydroxylase	gene	DOID:5419	schizophrenia		ISO	RGD:733897	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:20301610|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7789962|PMID:9754624
8835217	Th	tyrosine hydroxylase	gene	DOID:543	dystonia		ISO	RGD:733897	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Dystonia 1 | ClinVar Annotator: match by term: Dystonic disorder	PMID:10407773|PMID:11160968|PMID:11246459|PMID:15468323|PMID:16199547|PMID:17576681|PMID:17696123|PMID:20399390|PMID:20430833|PMID:20823027|PMID:21465550|PMID:21940685|PMID:22264700|PMID:23939262|PMID:24753243|PMID:25741868|PMID:26220941|PMID:26276013|PMID:26467025|PMID:27185167|PMID:27619486|PMID:28492532|PMID:29225908|PMID:29724574|PMID:29801903|PMID:32185155|PMID:33072517|PMID:34054692|PMID:7814018|PMID:8528210|PMID:8817341|PMID:9235905|PMID:9536098|PMID:9703425
8835217	Th	tyrosine hydroxylase	gene	DOID:543	dystonia		ISO	RGD:733897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Writer's cramp	PMID:10407773|PMID:20056467|PMID:20430833|PMID:20823027|PMID:25741868|PMID:28492532|PMID:9703425
8835217	Th	tyrosine hydroxylase	gene	DOID:5844	myocardial infarction	no_association	ISO	RGD:733897	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron:g.1170_1173dupTCAT (human)	PMID:16139102|REF_RGD_ID:1580048
8835217	Th	tyrosine hydroxylase	gene	DOID:6000	congestive heart failure		ISO	RGD:11414	D	RGD:9068941	20200609	RGD			PMID:7715703|REF_RGD_ID:737737
8835217	Th	tyrosine hydroxylase	gene	DOID:6000	congestive heart failure		ISO	RGD:3853	D	RGD:9068941	20200609	RGD		protein:increased expression:paraventricular thalamic nucleus (rat)	PMID:21287352|REF_RGD_ID:5128674
8835217	Th	tyrosine hydroxylase	gene	DOID:630	genetic disease		ISO	RGD:733897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22264700|PMID:24753243|PMID:25741868|PMID:28492532
8835217	Th	tyrosine hydroxylase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733897	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
8835217	Th	tyrosine hydroxylase	gene	DOID:769	neuroblastoma		ISO	RGD:733897	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25174395
8835217	Th	tyrosine hydroxylase	gene	DOID:8927	learning disability		ISO	RGD:733897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868|PMID:28492532|PMID:33233562
8835217	Th	tyrosine hydroxylase	gene	DOID:9000998	Brain Injuries		ISO	RGD:3853	D	RGD:9068941	20200609	RGD		protein:decreased activity:striatum (rat)	PMID:21047500|REF_RGD_ID:5128822
8835217	Th	tyrosine hydroxylase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3853	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:superior mesenteric artery (rat)	PMID:18457899|REF_RGD_ID:5129683
8835217	Th	tyrosine hydroxylase	gene	DOID:9002362	Hyperkinesis		ISO	RGD:733897	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9822156
8835217	Th	tyrosine hydroxylase	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:733897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:20056467|PMID:20823027|PMID:25741868
8835217	Th	tyrosine hydroxylase	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:733897	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12871582
8835217	Th	tyrosine hydroxylase	gene	DOID:9003805	Catalepsy		ISO	RGD:733897	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10984662|PMID:9822156
8835217	Th	tyrosine hydroxylase	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:733897	D	RGD:9068941	20200609	RGD		protein:increased expression:medulla oblongata (human)	PMID:21061149|REF_RGD_ID:5128821
8835217	Th	tyrosine hydroxylase	gene	DOID:9005077	Joint Instability		ISO	RGD:733897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:20056467|PMID:20823027|PMID:25741868
8835217	Th	tyrosine hydroxylase	gene	DOID:9005166	Contusions		ISO	RGD:3853	D	RGD:9068941	20200609	RGD		mRNA:increased expression:adrenal gland (rat)	PMID:18987458|REF_RGD_ID:5129532
8835217	Th	tyrosine hydroxylase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:20056467|PMID:20823027|PMID:25741868|PMID:28492532|PMID:33233562
8835217	Th	tyrosine hydroxylase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3853	D	RGD:9068941	20200609	RGD		protein:increased expression:seminal vesicle	PMID:17151307|REF_RGD_ID:1601629
8835217	Th	tyrosine hydroxylase	gene	DOID:9007385	Mitochondrial Encephalopathy		ISO	RGD:733897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial encephalopathy	PMID:25741868|PMID:28492532|PMID:33233562
8835217	Th	tyrosine hydroxylase	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:733897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:28492532|PMID:33233562
8835217	Th	tyrosine hydroxylase	gene	DOID:9008023	Memory Disorders		ISO	RGD:3853	D	RGD:9068941	20250719	RGD		associated with status epilepticus;protein:decreased expression:dopaminergic neuron	PMID:16039622|REF_RGD_ID:617212718
8835217	Th	tyrosine hydroxylase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:20056467|PMID:20823027|PMID:25741868
8835217	Th	tyrosine hydroxylase	gene	DOID:9008394	Drug-Induced Dyskinesia		ISO	RGD:733897	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15659429
8835217	Th	tyrosine hydroxylase	gene	DOID:936	brain disease		ISO	RGD:733897	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:7842013
8835217	Th	tyrosine hydroxylase	gene	DOID:9970	obesity	resistance	ISO	RGD:733897	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron:g.1170_1173dupTCAT (human)	PMID:16251897|REF_RGD_ID:1601632
8835217	Th	tyrosine hydroxylase	gene	DOID:9976	heroin dependence	onset	ISO	RGD:733897	D	RGD:9068941	20240627	RGD		DNA:SNP:5'utr:(rs10770140) (human)	PMID:32736537|REF_RGD_ID:405866368
8835217	Th	tyrosine hydroxylase	gene	DOID:9993	hypoglycemia		ISO	RGD:3853	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; protein:increased expression:adrenal gland (rat)	PMID:16396986|REF_RGD_ID:5130724
8835247	Ca4	carbonic anhydrase 4	gene	DOID:0110404	retinitis pigmentosa 17		ISO	RGD:1353429	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CA4-related condition | ClinVar Annotator: match by term: retinitis pigmentosa 17	PMID:15090652|PMID:15295099|PMID:15563508|PMID:20626030|PMID:25741868|PMID:28492532
8835247	Ca4	carbonic anhydrase 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1353429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:28492532|PMID:29343940
8835247	Ca4	carbonic anhydrase 4	gene	DOID:10584	retinitis pigmentosa	susceptibility	ISO	RGD:1353429	D	RGD:9068941	20200609	RGD			PMID:15090652|REF_RGD_ID:1600730
8835247	Ca4	carbonic anhydrase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1353429	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8835247	Ca4	carbonic anhydrase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835247	Ca4	carbonic anhydrase 4	gene	DOID:8501	fundus dystrophy		ISO	RGD:1353429	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:17652713|PMID:19211803|PMID:20450258|PMID:28492532|PMID:30718709
8835247	Ca4	carbonic anhydrase 4	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1332428	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
8835247	Ca4	carbonic anhydrase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8835274	Ube2e2	ubiquitin conjugating enzyme E2 E2	gene	DOID:0050868	hepatocellular adenoma		ISO	RGD:1346022	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27914986
8835274	Ube2e2	ubiquitin conjugating enzyme E2 E2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8835274	Ube2e2	ubiquitin conjugating enzyme E2 E2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8835274	Ube2e2	ubiquitin conjugating enzyme E2 E2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1346022	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20818381
8835274	Ube2e2	ubiquitin conjugating enzyme E2 E2	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1346022	D	RGD:9068941	20231026	RGD		associated with Environmental Illness; DNA:SNP:: (rs1496653) (human)	PMID:27281273|REF_RGD_ID:401850598
8835286	Atl2	atlastin GTPase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8835286	Atl2	atlastin GTPase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835286	Atl2	atlastin GTPase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312973	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8835286	Atl2	atlastin GTPase 2	gene	DOID:1115	sarcoma		ISO	RGD:1312973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8835286	Atl2	atlastin GTPase 2	gene	DOID:1324	lung cancer		ISO	RGD:1312973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8835286	Atl2	atlastin GTPase 2	gene	DOID:1909	melanoma		ISO	RGD:1312973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8835286	Atl2	atlastin GTPase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8835286	Atl2	atlastin GTPase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8835286	Atl2	atlastin GTPase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835286	Atl2	atlastin GTPase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8835286	Atl2	atlastin GTPase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8835320	Dpp3	dipeptidyl peptidase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835320	Dpp3	dipeptidyl peptidase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8835320	Dpp3	dipeptidyl peptidase 3	gene	DOID:1115	sarcoma		ISO	RGD:736150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8835320	Dpp3	dipeptidyl peptidase 3	gene	DOID:1324	lung cancer		ISO	RGD:736150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8835320	Dpp3	dipeptidyl peptidase 3	gene	DOID:1909	melanoma		ISO	RGD:736150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8835320	Dpp3	dipeptidyl peptidase 3	gene	DOID:3275	thymoma		ISO	RGD:736150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8835320	Dpp3	dipeptidyl peptidase 3	gene	DOID:4362	cervical cancer		ISO	RGD:736150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8835320	Dpp3	dipeptidyl peptidase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835320	Dpp3	dipeptidyl peptidase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8835320	Dpp3	dipeptidyl peptidase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8835320	Dpp3	dipeptidyl peptidase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8835320	Dpp3	dipeptidyl peptidase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1349703	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:1788	peritoneal mesothelioma		ISO	RGD:1349703	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Peritoneal mesothelioma	
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:1909	melanoma		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1349703	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26950094
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:2661	myoepithelioma		ISO	RGD:1349703	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1349703	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17049657
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:3307	teratoma		ISO	RGD:1349703	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:9005834	Ependymomas		ISO	RGD:1349703	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:9006493	Glandular and Epithelial Neoplasms		ISO	RGD:1349703	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21447609
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8835349	Lats1	large tumor suppressor kinase 1	gene	DOID:9538	multiple myeloma		ISO	RGD:1349703	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
8835364	Alpk2	alpha kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8835364	Alpk2	alpha kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835364	Alpk2	alpha kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8835364	Alpk2	alpha kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8835364	Alpk2	alpha kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8835364	Alpk2	alpha kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8835364	Alpk2	alpha kinase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8835364	Alpk2	alpha kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8835364	Alpk2	alpha kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835364	Alpk2	alpha kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8835364	Alpk2	alpha kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8835364	Alpk2	alpha kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8835364	Alpk2	alpha kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8835388	Phb2	prohibitin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835388	Phb2	prohibitin 2	gene	DOID:1324	lung cancer		ISO	RGD:1604641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8835388	Phb2	prohibitin 2	gene	DOID:3275	thymoma		ISO	RGD:1604641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8835388	Phb2	prohibitin 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8835388	Phb2	prohibitin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8835388	Phb2	prohibitin 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:620203	D	RGD:9068941	20200609	RGD			PMID:24566151|REF_RGD_ID:12903261
8835388	Phb2	prohibitin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8835404	Creb3l2	cAMP responsive element binding protein 3 like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8835404	Creb3l2	cAMP responsive element binding protein 3 like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835404	Creb3l2	cAMP responsive element binding protein 3 like 2	gene	DOID:1324	lung cancer		ISO	RGD:1314429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8835404	Creb3l2	cAMP responsive element binding protein 3 like 2	gene	DOID:1909	melanoma		ISO	RGD:1314429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8835404	Creb3l2	cAMP responsive element binding protein 3 like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8835404	Creb3l2	cAMP responsive element binding protein 3 like 2	gene	DOID:3275	thymoma		ISO	RGD:1314429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8835404	Creb3l2	cAMP responsive element binding protein 3 like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8835404	Creb3l2	cAMP responsive element binding protein 3 like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8835404	Creb3l2	cAMP responsive element binding protein 3 like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835404	Creb3l2	cAMP responsive element binding protein 3 like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8835404	Creb3l2	cAMP responsive element binding protein 3 like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8835426	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8835426	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835426	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:0060058	lymphoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8835426	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8835426	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8835426	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8835426	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8835426	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8835426	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8835426	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8835426	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8835426	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8835426	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8835426	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602728	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8835426	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:1602728	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32659284
8835426	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835426	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8835426	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8835426	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8835426	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8835501	Hspb9	heat shock protein family B (small) member 9	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319285	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:31546644
8835507	Surf1	surfeit 1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:732036	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:10443880|PMID:25111564|PMID:25741868|PMID:27756633|PMID:28492532|PMID:33134083|PMID:38703036|PMID:9837813
8835507	Surf1	surfeit 1	gene	DOID:0060135	apraxia		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apraxia	PMID:10443880|PMID:22488715|PMID:24027061|PMID:25741868|PMID:28429146|PMID:28492532|PMID:31967322
8835507	Surf1	surfeit 1	gene	DOID:0070491	mitochondrial complex IV deficiency nuclear type 1		ISO	RGD:732036	D	RGD:7240710	20201111	OMIM			
8835507	Surf1	surfeit 1	gene	DOID:0070491	mitochondrial complex IV deficiency nuclear type 1		ISO	RGD:732036	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1	PMID:10443880|PMID:10556303|PMID:10636738|PMID:10746561|PMID:16326995|PMID:17576681|PMID:18583168|PMID:19791729|PMID:20624914|PMID:22488715|PMID:23829769|PMID:24027061|PMID:24462369|PMID:25111564|PMID:25741868|PMID:26257172|PMID:27756633|PMID:28429146|PMID:28492532|PMID:28639102|PMID:29933018|PMID:31967322|PMID:32445240|PMID:33134083|PMID:34302356|PMID:36675121|PMID:38703036|PMID:9536098|PMID:9837813
8835507	Surf1	surfeit 1	gene	DOID:0110187	Charcot-Marie-Tooth disease type 4K		ISO	RGD:732036	D	RGD:7240710	20180130	OMIM			
8835507	Surf1	surfeit 1	gene	DOID:0110187	Charcot-Marie-Tooth disease type 4K		ISO	RGD:732036	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4K	PMID:10443880|PMID:11279059|PMID:17576681|PMID:19791729|PMID:22488715|PMID:23829769|PMID:24027061|PMID:25111564|PMID:25741868|PMID:26257172|PMID:27756633|PMID:28429146|PMID:28492532|PMID:29715184|PMID:31967322|PMID:32445240|PMID:33594065|PMID:9536098|PMID:9837813
8835507	Surf1	surfeit 1	gene	DOID:0111180	French Canadian Leigh disease		ISO	RGD:732036	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16326995
8835507	Surf1	surfeit 1	gene	DOID:10376	amblyopia		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:17576681|PMID:19791729|PMID:22488715|PMID:23829769|PMID:25741868|PMID:28492532|PMID:32445240|PMID:9536098
8835507	Surf1	surfeit 1	gene	DOID:1059	intellectual disability		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:10443880|PMID:22488715|PMID:24027061|PMID:25741868|PMID:28429146|PMID:28492532|PMID:31967322
8835507	Surf1	surfeit 1	gene	DOID:10863	paralytic squint		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paralytic strabismus	PMID:17576681|PMID:19791729|PMID:22488715|PMID:23829769|PMID:25741868|PMID:28492532|PMID:32445240|PMID:9536098
8835507	Surf1	surfeit 1	gene	DOID:10907	microcephaly		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:10443880|PMID:22488715|PMID:24027061|PMID:25741868|PMID:28429146|PMID:28492532|PMID:31967322
8835507	Surf1	surfeit 1	gene	DOID:11782	astigmatism		ISO	RGD:732036	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:10443880|PMID:25111564|PMID:25741868|PMID:27756633|PMID:28492532|PMID:33134083|PMID:38703036|PMID:9837813
8835507	Surf1	surfeit 1	gene	DOID:12215	oligohydramnios		ISO	RGD:732036	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:10443880|PMID:25111564|PMID:25741868|PMID:27756633|PMID:28492532|PMID:33134083|PMID:38703036|PMID:9837813
8835507	Surf1	surfeit 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:28492532
8835507	Surf1	surfeit 1	gene	DOID:12849	autistic disorder		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:10443880|PMID:22488715|PMID:24027061|PMID:25741868|PMID:28429146|PMID:28492532|PMID:31967322
8835507	Surf1	surfeit 1	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:10443880|PMID:22488715|PMID:24027061|PMID:25741868|PMID:28429146|PMID:28492532|PMID:31967322
8835507	Surf1	surfeit 1	gene	DOID:1826	epilepsy		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:28492532
8835507	Surf1	surfeit 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:28492532
8835507	Surf1	surfeit 1	gene	DOID:1909	melanoma		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:10558868|PMID:10746561|PMID:20624914|PMID:28492532
8835507	Surf1	surfeit 1	gene	DOID:2394	ovarian cancer		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8835507	Surf1	surfeit 1	gene	DOID:3650	lactic acidosis		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:10443880|PMID:22488715|PMID:24027061|PMID:25741868|PMID:28429146|PMID:28492532|PMID:31967322
8835507	Surf1	surfeit 1	gene	DOID:3652	Leigh disease		ISO	RGD:732036	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11288709|PMID:11317352|PMID:11423010|PMID:12026244|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:28429146|PMID:28492532|PMID:28639102|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:9536098|PMID:9837813|PMID:9843204
8835507	Surf1	surfeit 1	gene	DOID:3652	Leigh disease		ISO	RGD:732036	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy	PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11288709|PMID:11317352|PMID:11423010|PMID:12026244|PMID:12812953|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:28429146|PMID:28492532|PMID:28639102|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:34943053|PMID:9536098|PMID:9837813|PMID:9843204
8835507	Surf1	surfeit 1	gene	DOID:3652	Leigh disease		ISO	RGD:732036	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11279059|PMID:11288709|PMID:11317352|PMID:11423010|PMID:12026244|PMID:12515039|PMID:12812953|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16326995|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:27848944|PMID:27896082|PMID:28429146|PMID:28492532|PMID:28639102|PMID:2933018|PMID:29715184|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:33013660|PMID:33134083|PMID:34052969|PMID:34868319|PMID:34943053|PMID:9536098|PMID:9837813|PMID:9843204
8835507	Surf1	surfeit 1	gene	DOID:3652	Leigh disease		ISO	RGD:732036	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease	PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11279059|PMID:11288709|PMID:11317352|PMID:11423010|PMID:12026244|PMID:12515039|PMID:12812953|PMID:12943968|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16326995|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:22700954|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:27848944|PMID:27896082|PMID:28429146|PMID:28492532|PMID:28639102|PMID:2933018|PMID:29715184|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:33013660|PMID:33134083|PMID:34052969|PMID:34868319|PMID:34943053|PMID:9536098|PMID:9837813|PMID:9843204
8835507	Surf1	surfeit 1	gene	DOID:3652	Leigh disease		ISO	RGD:732036	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease	PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11279059|PMID:11288709|PMID:11317352|PMID:11423010|PMID:12026244|PMID:12515039|PMID:12812953|PMID:12943968|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16326995|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:22700954|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:27848944|PMID:27896082|PMID:28429146|PMID:28492532|PMID:28639102|PMID:2933018|PMID:29715184|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:33013660|PMID:33134083|PMID:34052969|PMID:34302356|PMID:34868319|PMID:34943053|PMID:35094435|PMID:9536098|PMID:9837813|PMID:9843204
8835507	Surf1	surfeit 1	gene	DOID:3652	Leigh disease		ISO	RGD:732036	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy	PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11279059|PMID:11288709|PMID:11317352|PMID:11423010|PMID:11955926|PMID:12026244|PMID:12515039|PMID:12812953|PMID:12943968|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16326995|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:18804471|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:22700954|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:27848944|PMID:27896082|PMID:28429146|PMID:28492532|PMID:28639102|PMID:2933018|PMID:29715184|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:33013660|PMID:33101984|PMID:33134083|PMID:34052969|PMID:34302356|PMID:34868319|PMID:34943053|PMID:35094435|PMID:36675121|PMID:9536098|PMID:9837813|PMID:9843204
8835507	Surf1	surfeit 1	gene	DOID:3652	Leigh disease		ISO	RGD:732036	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy	PMID:1044388|PMID:10443880|PMID:10556302|PMID:10746561|PMID:11279059|PMID:11288709|PMID:11423010|PMID:11955926|PMID:12515039|PMID:12812953|PMID:16199547|PMID:16225813|PMID:16326995|PMID:16542579|PMID:16765830|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:18804471|PMID:19780766|PMID:19791729|PMID:20624914|PMID:21937992|PMID:22410471|PMID:22488715|PMID:22700954|PMID:23829769|PMID:24027061|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:27475922|PMID:27756633|PMID:27826120|PMID:27848944|PMID:27896082|PMID:28429146|PMID:28492532|PMID:28639102|PMID:29715184|PMID:29933018|PMID:30872186|PMID:31069529|PMID:31130284|PMID:31589614|PMID:31967322|PMID:32020600|PMID:32380162|PMID:32445240|PMID:33013660|PMID:33101984|PMID:33134083|PMID:33771987|PMID:34052969|PMID:34868319|PMID:34943053|PMID:35094435|PMID:36675121|PMID:36964972|PMID:38397177|PMID:38703036|PMID:9536098|PMID:9837813
8835507	Surf1	surfeit 1	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISO	RGD:732036	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease	PMID:10443880|PMID:10636738|PMID:10647889|PMID:10746561|PMID:11317352|PMID:15214016|PMID:16199547|PMID:16542579|PMID:21937992|PMID:22488715|PMID:23829769|PMID:24027061|PMID:24462369|PMID:25111564|PMID:25741868|PMID:27756633|PMID:28492532|PMID:28639102|PMID:29933018|PMID:30872186|PMID:32445240|PMID:9837813|PMID:9843204
8835507	Surf1	surfeit 1	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISO	RGD:732036	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Complex IV deficiency	PMID:10443880|PMID:16326995|PMID:17576681|PMID:18583168|PMID:19791729|PMID:22488715|PMID:23829769|PMID:24027061|PMID:25111564|PMID:25741868|PMID:26257172|PMID:27756633|PMID:28429146|PMID:28492532|PMID:29933018|PMID:31967322|PMID:32445240|PMID:33134083|PMID:36675121|PMID:38703036|PMID:9536098|PMID:9837813
8835507	Surf1	surfeit 1	gene	DOID:4362	cervical cancer		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8835507	Surf1	surfeit 1	gene	DOID:540	strabismus		ISO	RGD:732036	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:10443880|PMID:17576681|PMID:19791729|PMID:22488715|PMID:23829769|PMID:25111564|PMID:25741868|PMID:27756633|PMID:28492532|PMID:32445240|PMID:33134083|PMID:38703036|PMID:9536098|PMID:9837813
8835507	Surf1	surfeit 1	gene	DOID:5723	optic atrophy		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:10443880|PMID:22488715|PMID:24027061|PMID:25741868|PMID:28429146|PMID:28492532|PMID:31967322
8835507	Surf1	surfeit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:10443880|PMID:16199547|PMID:22488715|PMID:23829769|PMID:24027061|PMID:27475922|PMID:28492532
8835507	Surf1	surfeit 1	gene	DOID:630	genetic disease		ISO	RGD:732036	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10443880|PMID:25111564|PMID:25741868|PMID:27756633|PMID:28492532|PMID:31589614|PMID:33134083|PMID:38703036|PMID:9837813
8835507	Surf1	surfeit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732036	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:10443880|PMID:22488715|PMID:24027061|PMID:25741868|PMID:26257172|PMID:28492532
8835507	Surf1	surfeit 1	gene	DOID:767	muscular atrophy		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:17576681|PMID:19791729|PMID:22488715|PMID:23829769|PMID:25741868|PMID:28492532|PMID:32445240|PMID:9536098
8835507	Surf1	surfeit 1	gene	DOID:8927	learning disability		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:10443880|PMID:22488715|PMID:24027061|PMID:25741868|PMID:28429146|PMID:28492532|PMID:31967322
8835507	Surf1	surfeit 1	gene	DOID:9000495	Tremor		ISO	RGD:732036	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:10443880|PMID:25111564|PMID:25741868|PMID:27756633|PMID:28492532|PMID:33134083|PMID:38703036|PMID:9837813
8835507	Surf1	surfeit 1	gene	DOID:9000658	Leigh Syndrome due to Mitochondrial Complex IV Deficiency		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex IV deficiency	PMID:28429146|PMID:28492532|PMID:29933018|PMID:31967322|PMID:38397177
8835507	Surf1	surfeit 1	gene	DOID:9001031	Retrognathia		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:28492532
8835507	Surf1	surfeit 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:10443880|PMID:22488715|PMID:24027061|PMID:25741868|PMID:28429146|PMID:28492532|PMID:31967322
8835507	Surf1	surfeit 1	gene	DOID:9001722	Dysarthria		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:17576681|PMID:19791729|PMID:22488715|PMID:23829769|PMID:25741868|PMID:28492532|PMID:32445240|PMID:9536098
8835507	Surf1	surfeit 1	gene	DOID:9002134	Heart Murmurs		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:28492532
8835507	Surf1	surfeit 1	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:28492532
8835507	Surf1	surfeit 1	gene	DOID:9003671	Hypoventilation		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoventilation	PMID:28492532
8835507	Surf1	surfeit 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:16326995|PMID:17576681|PMID:18583168|PMID:22488715|PMID:23829769|PMID:25741868|PMID:28492532|PMID:29933018|PMID:9536098|PMID:9837813
8835507	Surf1	surfeit 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8835507	Surf1	surfeit 1	gene	DOID:9004507	Hirsutism		ISO	RGD:732036	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:10443880|PMID:17576681|PMID:19791729|PMID:22488715|PMID:23829769|PMID:24027061|PMID:25111564|PMID:25741868|PMID:27756633|PMID:28429146|PMID:28492532|PMID:31967322|PMID:32445240|PMID:33134083|PMID:38703036|PMID:9536098|PMID:9837813
8835507	Surf1	surfeit 1	gene	DOID:9004866	Ataxia		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:10443880|PMID:17576681|PMID:19791729|PMID:22488715|PMID:23829769|PMID:24027061|PMID:25741868|PMID:28429146|PMID:28492532|PMID:31967322|PMID:32445240|PMID:9536098
8835507	Surf1	surfeit 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:17576681|PMID:19791729|PMID:22488715|PMID:23829769|PMID:25741868|PMID:28492532|PMID:32445240|PMID:9536098
8835507	Surf1	surfeit 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:10443880|PMID:16326995|PMID:17576681|PMID:18583168|PMID:22488715|PMID:23829769|PMID:24027061|PMID:25741868|PMID:28429146|PMID:28492532|PMID:29933018|PMID:31967322|PMID:9536098|PMID:9837813
8835507	Surf1	surfeit 1	gene	DOID:9005695	Malnutrition		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malnutrition	PMID:17576681|PMID:19791729|PMID:22488715|PMID:23829769|PMID:25741868|PMID:28492532|PMID:32445240|PMID:9536098
8835507	Surf1	surfeit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
8835507	Surf1	surfeit 1	gene	DOID:9007001	Bradycardia		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:28492532
8835507	Surf1	surfeit 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:732036	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:10443880|PMID:25111564|PMID:25741868|PMID:27756633|PMID:28492532|PMID:33134083|PMID:38703036|PMID:9837813
8835507	Surf1	surfeit 1	gene	DOID:9007661	Dwarfism		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10443880|PMID:22488715|PMID:24027061|PMID:25741868|PMID:28429146|PMID:28492532|PMID:31967322
8835507	Surf1	surfeit 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8835507	Surf1	surfeit 1	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:732036	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:10443880|PMID:25111564|PMID:25741868|PMID:27756633|PMID:28492532|PMID:33134083|PMID:38703036|PMID:9837813
8835507	Surf1	surfeit 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:732036	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16765830
8835507	Surf1	surfeit 1	gene	DOID:9220	central sleep apnea		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central apnea	PMID:28492532
8835507	Surf1	surfeit 1	gene	DOID:936	brain disease		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:17576681|PMID:19791729|PMID:22488715|PMID:23829769|PMID:25741868|PMID:28492532|PMID:32445240|PMID:9536098
8835507	Surf1	surfeit 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus	PMID:17576681|PMID:19791729|PMID:22488715|PMID:23829769|PMID:25741868|PMID:28492532|PMID:32445240|PMID:9536098
8835507	Surf1	surfeit 1	gene	DOID:9840	esotropia		ISO	RGD:732036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:17576681|PMID:19791729|PMID:22488715|PMID:23829769|PMID:25741868|PMID:28492532|PMID:32445240|PMID:9536098
8835507	Surf1	surfeit 1	gene	DOID:988	mitral valve prolapse		ISO	RGD:732036	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	PMID:10443880|PMID:25111564|PMID:25741868|PMID:27756633|PMID:28492532|PMID:33134083|PMID:38703036|PMID:9837813
8835525	Ankdd1a	ankyrin repeat and death domain containing 1A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8835525	Ankdd1a	ankyrin repeat and death domain containing 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835525	Ankdd1a	ankyrin repeat and death domain containing 1A	gene	DOID:1909	melanoma		ISO	RGD:1604469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8835525	Ankdd1a	ankyrin repeat and death domain containing 1A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8835525	Ankdd1a	ankyrin repeat and death domain containing 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835525	Ankdd1a	ankyrin repeat and death domain containing 1A	gene	DOID:6039	uveal melanoma		ISO	RGD:1604469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8835525	Ankdd1a	ankyrin repeat and death domain containing 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8835525	Ankdd1a	ankyrin repeat and death domain containing 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8835525	Ankdd1a	ankyrin repeat and death domain containing 1A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8835549	Tbc1d22a	TBC1 domain family member 22A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835549	Tbc1d22a	TBC1 domain family member 22A	gene	DOID:10534	stomach cancer		ISO	RGD:1602007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8835549	Tbc1d22a	TBC1 domain family member 22A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8835549	Tbc1d22a	TBC1 domain family member 22A	gene	DOID:1115	sarcoma		ISO	RGD:1602007	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8835549	Tbc1d22a	TBC1 domain family member 22A	gene	DOID:1909	melanoma		ISO	RGD:1602007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8835549	Tbc1d22a	TBC1 domain family member 22A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835549	Tbc1d22a	TBC1 domain family member 22A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8835549	Tbc1d22a	TBC1 domain family member 22A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8835549	Tbc1d22a	TBC1 domain family member 22A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8835549	Tbc1d22a	TBC1 domain family member 22A	gene	DOID:9256	colorectal cancer		ISO	RGD:1602007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8835566	Nhlrc4	NHL repeat containing 4	gene	DOID:3275	thymoma		ISO	RGD:1602637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8835571	Larp4	La ribonucleoprotein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835571	Larp4	La ribonucleoprotein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1603283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8835571	Larp4	La ribonucleoprotein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8835571	Larp4	La ribonucleoprotein 4	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1603283	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8835571	Larp4	La ribonucleoprotein 4	gene	DOID:1909	melanoma		ISO	RGD:1603283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8835571	Larp4	La ribonucleoprotein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8835571	Larp4	La ribonucleoprotein 4	gene	DOID:3275	thymoma		ISO	RGD:1603283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8835571	Larp4	La ribonucleoprotein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1603283	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8835571	Larp4	La ribonucleoprotein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835571	Larp4	La ribonucleoprotein 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8835571	Larp4	La ribonucleoprotein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8835571	Larp4	La ribonucleoprotein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8835598	Paxip1	PAX interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8835598	Paxip1	PAX interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8835598	Paxip1	PAX interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8835598	Paxip1	PAX interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8835598	Paxip1	PAX interacting protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8835598	Paxip1	PAX interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316804	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8835598	Paxip1	PAX interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835598	Paxip1	PAX interacting protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8835598	Paxip1	PAX interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8835598	Paxip1	PAX interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8835598	Paxip1	PAX interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8835637	Strn4	striatin 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8835637	Strn4	striatin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835637	Strn4	striatin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8835637	Strn4	striatin 4	gene	DOID:1115	sarcoma		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8835637	Strn4	striatin 4	gene	DOID:1324	lung cancer		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8835637	Strn4	striatin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8835637	Strn4	striatin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1315983	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8835637	Strn4	striatin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835637	Strn4	striatin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8835666	CUNH12orf75	chromosome unknown C12orf75 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2303668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8835666	CUNH12orf75	chromosome unknown C12orf75 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2303668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835666	CUNH12orf75	chromosome unknown C12orf75 homolog	gene	DOID:1115	sarcoma		ISO	RGD:2303668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8835666	CUNH12orf75	chromosome unknown C12orf75 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2303668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8835666	CUNH12orf75	chromosome unknown C12orf75 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2303668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8835666	CUNH12orf75	chromosome unknown C12orf75 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2303668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8835666	CUNH12orf75	chromosome unknown C12orf75 homolog	gene	DOID:9256	colorectal cancer		ISO	RGD:2303668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8835678	Tldc2	TBC/LysM-associated domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1348581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8835678	Tldc2	TBC/LysM-associated domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348581	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8835678	Tldc2	TBC/LysM-associated domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835678	Tldc2	TBC/LysM-associated domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8835678	Tldc2	TBC/LysM-associated domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8835693	Bltp3b	bridge-like lipid transfer protein family member 3B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835693	Bltp3b	bridge-like lipid transfer protein family member 3B	gene	DOID:10534	stomach cancer		ISO	RGD:1604632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8835693	Bltp3b	bridge-like lipid transfer protein family member 3B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8835693	Bltp3b	bridge-like lipid transfer protein family member 3B	gene	DOID:1115	sarcoma		ISO	RGD:1604632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8835693	Bltp3b	bridge-like lipid transfer protein family member 3B	gene	DOID:1324	lung cancer		ISO	RGD:1604632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8835693	Bltp3b	bridge-like lipid transfer protein family member 3B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8835693	Bltp3b	bridge-like lipid transfer protein family member 3B	gene	DOID:3070	high grade glioma		ISO	RGD:1604632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8835693	Bltp3b	bridge-like lipid transfer protein family member 3B	gene	DOID:4362	cervical cancer		ISO	RGD:1604632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8835693	Bltp3b	bridge-like lipid transfer protein family member 3B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604632	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8835693	Bltp3b	bridge-like lipid transfer protein family member 3B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8835693	Bltp3b	bridge-like lipid transfer protein family member 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835693	Bltp3b	bridge-like lipid transfer protein family member 3B	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1604632	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
8835693	Bltp3b	bridge-like lipid transfer protein family member 3B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8835693	Bltp3b	bridge-like lipid transfer protein family member 3B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8835693	Bltp3b	bridge-like lipid transfer protein family member 3B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8835693	Bltp3b	bridge-like lipid transfer protein family member 3B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8835740	Notum	notum, palmitoleoyl-protein carboxylesterase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606450	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8835740	Notum	notum, palmitoleoyl-protein carboxylesterase	gene	DOID:3275	thymoma		ISO	RGD:1606450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8835740	Notum	notum, palmitoleoyl-protein carboxylesterase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835740	Notum	notum, palmitoleoyl-protein carboxylesterase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8835773	Cept1	choline/ethanolamine phosphotransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8835773	Cept1	choline/ethanolamine phosphotransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835773	Cept1	choline/ethanolamine phosphotransferase 1	gene	DOID:1115	sarcoma		ISO	RGD:1345389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8835773	Cept1	choline/ethanolamine phosphotransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1345389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8835773	Cept1	choline/ethanolamine phosphotransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8835773	Cept1	choline/ethanolamine phosphotransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835773	Cept1	choline/ethanolamine phosphotransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8835773	Cept1	choline/ethanolamine phosphotransferase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1345389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8835773	Cept1	choline/ethanolamine phosphotransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8835773	Cept1	choline/ethanolamine phosphotransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8835788	Gabpb2	GA binding protein transcription factor subunit beta 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8835788	Gabpb2	GA binding protein transcription factor subunit beta 2	gene	DOID:3275	thymoma		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8835788	Gabpb2	GA binding protein transcription factor subunit beta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835788	Gabpb2	GA binding protein transcription factor subunit beta 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8835788	Gabpb2	GA binding protein transcription factor subunit beta 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8835788	Gabpb2	GA binding protein transcription factor subunit beta 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8835788	Gabpb2	GA binding protein transcription factor subunit beta 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8835788	Gabpb2	GA binding protein transcription factor subunit beta 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8835804	Gmcl1	germ cell-less 1, spermatogenesis associated	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8835804	Gmcl1	germ cell-less 1, spermatogenesis associated	gene	DOID:10534	stomach cancer		ISO	RGD:1605349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8835804	Gmcl1	germ cell-less 1, spermatogenesis associated	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8835804	Gmcl1	germ cell-less 1, spermatogenesis associated	gene	DOID:1115	sarcoma		ISO	RGD:1605349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8835804	Gmcl1	germ cell-less 1, spermatogenesis associated	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8835804	Gmcl1	germ cell-less 1, spermatogenesis associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835804	Gmcl1	germ cell-less 1, spermatogenesis associated	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8835804	Gmcl1	germ cell-less 1, spermatogenesis associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial Breast cancer | ClinVar Annotator: match by term: Familial cancer of breast	
8835804	Gmcl1	germ cell-less 1, spermatogenesis associated	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8835831	Zdhhc16	zDHHC palmitoyltransferase 16	gene	DOID:1059	intellectual disability		ISO	RGD:1604262	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: mental retardation	
8835831	Zdhhc16	zDHHC palmitoyltransferase 16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8835831	Zdhhc16	zDHHC palmitoyltransferase 16	gene	DOID:4362	cervical cancer		ISO	RGD:1604262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8835831	Zdhhc16	zDHHC palmitoyltransferase 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835831	Zdhhc16	zDHHC palmitoyltransferase 16	gene	DOID:9256	colorectal cancer		ISO	RGD:1604262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8835860	Entr1	endosome associated trafficking regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835860	Entr1	endosome associated trafficking regulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8835860	Entr1	endosome associated trafficking regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8835860	Entr1	endosome associated trafficking regulator 1	gene	DOID:1115	sarcoma		ISO	RGD:1314253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8835860	Entr1	endosome associated trafficking regulator 1	gene	DOID:1324	lung cancer		ISO	RGD:1314253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8835860	Entr1	endosome associated trafficking regulator 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8835860	Entr1	endosome associated trafficking regulator 1	gene	DOID:3275	thymoma		ISO	RGD:1314253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
8835860	Entr1	endosome associated trafficking regulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer | ClinVar Annotator: match by term: Cervix cancer	
8835860	Entr1	endosome associated trafficking regulator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8835860	Entr1	endosome associated trafficking regulator 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8835860	Entr1	endosome associated trafficking regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835860	Entr1	endosome associated trafficking regulator 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8835860	Entr1	endosome associated trafficking regulator 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8835860	Entr1	endosome associated trafficking regulator 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1314253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8835872	Gla	galactosidase alpha	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1344140	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10666480|PMID:11531969|PMID:11668641|PMID:11828341|PMID:11889412|PMID:11914245|PMID:12175777|PMID:14635108|PMID:14680977|PMID:15003450|PMID:15091117|PMID:15702404|PMID:15712228|PMID:15776423|PMID:15806320|PMID:16232095|PMID:16533976|PMID:16595074|PMID:16754800|PMID:1677356|PMID:16773563|PMID:17040996|PMID:17532296|PMID:17555407|PMID:17804462|PMID:18003767|PMID:18057066|PMID:18154965|PMID:18205205|PMID:18297328|PMID:18596132|PMID:18830871|PMID:18849176|PMID:19373884|PMID:19621417|PMID:19823873|PMID:20031620|PMID:20110537|PMID:20122163|PMID:20360539|PMID:20464614|PMID:20716442|PMID:20821055|PMID:21062768|PMID:21092187|PMID:21229318|PMID:21517827|PMID:21549080|PMID:21598360|PMID:21683120|PMID:21890869|PMID:21946453|PMID:21972175|PMID:22205110|PMID:22226368|PMID:22336178|PMID:22437327|PMID:22551898|PMID:22682330|PMID:22805550|PMID:22905681|PMID:23109060|PMID:23219219|PMID:23306324|PMID:23332617|PMID:23393592|PMID:23430502|PMID:23430526|PMID:23465405|PMID:23568732|PMID:23608164|PMID:23677059|PMID:23818648|PMID:23922385|PMID:2393552|PMID:23935525|PMID:24015197|PMID:24033266|PMID:24082139|PMID:24365053|PMID:24380807|PMID:24386359|PMID:24395922|PMID:24582695|PMID:24661928|PMID:24784157|PMID:24829596|PMID:24980630|PMID:25040344|PMID:25078086|PMID:25179549|PMID:25382311|PMID:25468652|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26047621|PMID:26070511|PMID:26252393|PMID:26305465|PMID:26384850|PMID:26415523|PMID:26866599|PMID:26869469|PMID:26990548|PMID:27142856|PMID:27532257|PMID:27554049|PMID:27595546|PMID:27657681|PMID:27832731|PMID:27916943|PMID:27931613|PMID:28082092|PMID:28253518|PMID:28276057|PMID:28299312|PMID:28332257|PMID:28340804|PMID:2836863|PMID:28377241|PMID:28409012|PMID:28430823|PMID:28492532|PMID:28596458|PMID:28646478|PMID:28728877|PMID:28799081|PMID:28892806|PMID:28941980|PMID:28943383|PMID:28988177|PMID:29018006|PMID:29037082|PMID:29044343|PMID:29132836|PMID:29143201|PMID:29215092|PMID:29227985|PMID:29305833|PMID:29330335|PMID:29530533|PMID:29621274|PMID:29631605|PMID:29649853|PMID:29867742|PMID:29875425|PMID:29982630|PMID:30023289|PMID:30246259|PMID:30380558|PMID:30386727|PMID:30477121|PMID:30569317|PMID:30662066|PMID:30731207|PMID:30739116|PMID:30773290|PMID:30902821|PMID:31020198|PMID:31028938|PMID:31036492|PMID:31291414|PMID:31449323|PMID:31566927|PMID:31613176|PMID:31650418|PMID:31654629|PMID:31860127|PMID:31907047|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32042454|PMID:32109691|PMID:32150461|PMID:32246049|PMID:32246457|PMID:32281532|PMID:32418857|PMID:32432376|PMID:32435590|PMID:32531501|PMID:32843101|PMID:32963035|PMID:33036343|PMID:33335842|PMID:33527381|PMID:33543778|PMID:33617311|PMID:33712733|PMID:33807900|PMID:35035949|PMID:35743592|PMID:35743707|PMID:35971858|PMID:36013057|PMID:36087038|PMID:36156392|PMID:36564230|PMID:37205992|PMID:37480128|PMID:38002959|PMID:6379599|PMID:7504405|PMID:7911050|PMID:8395937|PMID:8411052|PMID:8807334|PMID:8875188|PMID:8878432|PMID:9100224|PMID:9452111|PMID:9620884
8835872	Gla	galactosidase alpha	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1344140	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:10208848|PMID:10838196|PMID:10916280|PMID:11322659|PMID:11668641|PMID:11688386|PMID:12428061|PMID:15702404|PMID:15806320|PMID:16533976|PMID:16595074|PMID:16773563|PMID:17040996|PMID:17532296|PMID:17804462|PMID:18154965|PMID:18596132|PMID:20031620|PMID:20360539|PMID:20505683|PMID:21549080|PMID:21598360|PMID:2171331|PMID:22241068|PMID:22805550|PMID:23219219|PMID:23378663|PMID:23430526|PMID:23935525|PMID:24033266|PMID:24082139|PMID:24380807|PMID:24386359|PMID:24784157|PMID:25040344|PMID:25382311|PMID:25611685|PMID:25741868|PMID:27142856|PMID:27356758|PMID:27560961|PMID:27832731|PMID:28382085|PMID:28492532|PMID:28799081|PMID:29121657|PMID:29867742|PMID:29982630|PMID:30804731|PMID:30902821|PMID:31613176|PMID:31650418|PMID:31860127|PMID:31907047|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32281532|PMID:32418857|PMID:32531501|PMID:32583479|PMID:33617311|PMID:35743707|PMID:36156392|PMID:38618884|PMID:8738659|PMID:8878432|PMID:9100224|PMID:9395081|PMID:9883849
8835872	Gla	galactosidase alpha	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1344140	D	RGD:8554872	20250513	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:10208848|PMID:10838196|PMID:10916280|PMID:11322659|PMID:11688386|PMID:12428061|PMID:15702404|PMID:17532296|PMID:20505683|PMID:21598360|PMID:2171331|PMID:22241068|PMID:23378663|PMID:23935525|PMID:24033266|PMID:24386359|PMID:25382311|PMID:25741868|PMID:27356758|PMID:27560961|PMID:28382085|PMID:28492532|PMID:29121657|PMID:30804731|PMID:35369551|PMID:8738659|PMID:9395081|PMID:9883849
8835872	Gla	galactosidase alpha	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:8561877	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:11668641|PMID:15806320|PMID:16533976|PMID:16595074|PMID:16773563|PMID:17040996|PMID:17532296|PMID:17804462|PMID:18154965|PMID:18596132|PMID:20031620|PMID:20360539|PMID:21549080|PMID:21598360|PMID:22805550|PMID:23219219|PMID:23430526|PMID:23935525|PMID:24033266|PMID:24082139|PMID:24380807|PMID:24784157|PMID:25040344|PMID:25382311|PMID:25611685|PMID:25741868|PMID:27142856|PMID:27832731|PMID:28492532|PMID:28799081|PMID:29867742|PMID:29982630|PMID:30902821|PMID:31613176|PMID:31650418|PMID:31860127|PMID:31907047|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32281532|PMID:32418857|PMID:32531501|PMID:32583479|PMID:33617311|PMID:35743707|PMID:36156392|PMID:38618884|PMID:8878432|PMID:9100224
8835872	Gla	galactosidase alpha	gene	DOID:14499	Fabry disease		ISO	RGD:1344140	D	RGD:7240710	20180130	OMIM			
8835872	Gla	galactosidase alpha	gene	DOID:14499	Fabry disease		ISO	RGD:1344140	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FABRY DISEASE | ClinVar Annotator: match by term: Fabry disease	PMID:10666480|PMID:12175777|PMID:19763152|PMID:20307669|PMID:22406018|PMID:25741868|PMID:28492532
8835872	Gla	galactosidase alpha	gene	DOID:3211	lysosomal storage disease		ISO	RGD:1589721	D	RGD:9068941	20211022	RGD			PMID:29563343|REF_RGD_ID:150429980
8835872	Gla	galactosidase alpha	gene	DOID:479	angiokeratoma		ISO	RGD:1344140	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19925601
8835872	Gla	galactosidase alpha	gene	DOID:9000641	Pain		ISO	RGD:1589721	D	RGD:9068941	20211022	RGD		compared to wild type	PMID:29563343|REF_RGD_ID:150429980
8835872	Gla	galactosidase alpha	gene	DOID:9000641	Pain	treatment	ISO	RGD:1589721	D	RGD:9068941	20211022	RGD		Allyl isothiocyanate (XCO:0000608)	PMID:29563343|REF_RGD_ID:150429980
8835897	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8835897	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835897	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:1115	sarcoma		ISO	RGD:1319459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8835897	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:2152	ovary epithelial cancer		ISO	RGD:1319459	D	RGD:9068941	20200609	RGD		mRNA:increased expression:epithelium of female gonad (human)	PMID:23748175|REF_RGD_ID:11039469
8835897	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:3070	high grade glioma		ISO	RGD:1319459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8835897	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:3312	bipolar disorder		ISO	RGD:1319459	D	RGD:9068941	20200609	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:18281098|REF_RGD_ID:11039413
8835897	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319459	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8835897	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8835897	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1319459	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8835897	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835897	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:1309233	D	RGD:9068941	20200609	RGD		associated with Sciatic Neuropathy	PMID:8568916|REF_RGD_ID:10059662
8835897	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:1319459	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: therapeutic	PMID:40631627
8835897	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8835897	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8835927	Gipc3	GIPC PDZ domain containing family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8835927	Gipc3	GIPC PDZ domain containing family member 3	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1606469	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nonsyndromic hearing loss	PMID:25741868
8835927	Gipc3	GIPC PDZ domain containing family member 3	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1606469	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive	
8835927	Gipc3	GIPC PDZ domain containing family member 3	gene	DOID:0110470	autosomal recessive nonsyndromic deafness 15		ISO	RGD:1606469	D	RGD:7240710	20180130	OMIM			
8835927	Gipc3	GIPC PDZ domain containing family member 3	gene	DOID:0110470	autosomal recessive nonsyndromic deafness 15		ISO	RGD:1606469	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 15 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15 | ClinVar Annotator: match by term: GIPC3-related condition	PMID:23510777|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32747562|PMID:32864763
8835927	Gipc3	GIPC PDZ domain containing family member 3	gene	DOID:0110599	primary ciliary dyskinesia 3		ISO	RGD:1606469	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia 3	PMID:25741868
8835927	Gipc3	GIPC PDZ domain containing family member 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1606469	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:23510777|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32747562|PMID:32864763
8835927	Gipc3	GIPC PDZ domain containing family member 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1606469	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss	
8835927	Gipc3	GIPC PDZ domain containing family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8835927	Gipc3	GIPC PDZ domain containing family member 3	gene	DOID:630	genetic disease		ISO	RGD:1606469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:28492532|PMID:30311386
8835927	Gipc3	GIPC PDZ domain containing family member 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1606469	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing loss	PMID:25741868|PMID:30311386|PMID:32682410
8835927	Gipc3	GIPC PDZ domain containing family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8835937	Asgr1	asialoglycoprotein receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835937	Asgr1	asialoglycoprotein receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:737103	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8835937	Asgr1	asialoglycoprotein receptor 1	gene	DOID:1115	sarcoma		ISO	RGD:737103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8835937	Asgr1	asialoglycoprotein receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:737103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8835937	Asgr1	asialoglycoprotein receptor 1	gene	DOID:3275	thymoma		ISO	RGD:737103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8835937	Asgr1	asialoglycoprotein receptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:737103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8835937	Asgr1	asialoglycoprotein receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:737103	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8835937	Asgr1	asialoglycoprotein receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835937	Asgr1	asialoglycoprotein receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8835950	Stk40	serine/threonine kinase 40	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8835950	Stk40	serine/threonine kinase 40	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835950	Stk40	serine/threonine kinase 40	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1605028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
8835950	Stk40	serine/threonine kinase 40	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8835950	Stk40	serine/threonine kinase 40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835950	Stk40	serine/threonine kinase 40	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605028	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8835950	Stk40	serine/threonine kinase 40	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8835950	Stk40	serine/threonine kinase 40	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8835970	Nfe2	nuclear factor, erythroid 2	gene	DOID:1324	lung cancer		ISO	RGD:1315759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8835980	Pfkfb4	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344643	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8835980	Pfkfb4	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	gene	DOID:1909	melanoma		ISO	RGD:1344643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8835980	Pfkfb4	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	gene	DOID:3070	high grade glioma		ISO	RGD:1344643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8835980	Pfkfb4	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8835980	Pfkfb4	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1344643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8835980	Pfkfb4	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8835980	Pfkfb4	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1344643	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8835980	Pfkfb4	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835980	Pfkfb4	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8835980	Pfkfb4	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8835999	Bbc3	BCL2 binding component 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8835999	Bbc3	BCL2 binding component 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8835999	Bbc3	BCL2 binding component 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8835999	Bbc3	BCL2 binding component 3	gene	DOID:1909	melanoma		ISO	RGD:735389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8835999	Bbc3	BCL2 binding component 3	gene	DOID:224	transient cerebral ischemia		ISO	RGD:631434	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus CA1, pyramidal cell	PMID:12913114|REF_RGD_ID:634629
8835999	Bbc3	BCL2 binding component 3	gene	DOID:2316	brain ischemia		ISO	RGD:735389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19095966
8835999	Bbc3	BCL2 binding component 3	gene	DOID:3669	intermittent claudication		ISO	RGD:631434	D	RGD:9068941	20200609	RGD			PMID:23658678|REF_RGD_ID:9586024
8835999	Bbc3	BCL2 binding component 3	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:735389	D	RGD:9068941	20210903	RGD		human cells in mouse model	PMID:23632475|REF_RGD_ID:150404268
8835999	Bbc3	BCL2 binding component 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8835999	Bbc3	BCL2 binding component 3	gene	DOID:8584	Burkitt lymphoma		ISO	RGD:735389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18573879
8835999	Bbc3	BCL2 binding component 3	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:735389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16481741
8835999	Bbc3	BCL2 binding component 3	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:735389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28100771
8836033	Pax2	paired box 2	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1313673	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868|PMID:35005812
8836033	Pax2	paired box 2	gene	DOID:0080206	congenital anomalies of the kidney and urinary tract 1		ISO	RGD:1313673	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1	PMID:22213154|PMID:25741868|PMID:32203253|PMID:34217267
8836033	Pax2	paired box 2	gene	DOID:0090006	renal coloboma syndrome		ISO	RGD:1313673	D	RGD:7240710	20180130	OMIM			
8836033	Pax2	paired box 2	gene	DOID:0090006	renal coloboma syndrome		ISO	RGD:1313673	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CAKUT WITH OR WITHOUT OCULAR ABNORMALITIES | ClinVar Annotator: match by term: Coloboma of optic nerve with renal disease | ClinVar Annotator: match by term: PAPILLORENAL SYNDROME | ClinVar Annotator: match by term: PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES | ClinVar Annotator: match by term: PAX2-related condition | ClinVar Annotator: match by term: Papillorenal syndrome | ClinVar Annotator: match by term: Renal coloboma syndrome	PMID:10466411|PMID:10533062|PMID:11093271|PMID:11461952|PMID:15652857|PMID:17576681|PMID:20221250|PMID:20301624|PMID:21108633|PMID:22213154|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:27657687|PMID:28492532|PMID:28566479|PMID:29973660|PMID:30076350|PMID:30241513|PMID:3077329|PMID:30773290|PMID:30937553|PMID:31001663|PMID:31060108|PMID:31576025|PMID:31692565|PMID:32164334|PMID:32203253|PMID:32776440|PMID:33532864|PMID:34059960|PMID:34696790|PMID:35444690|PMID:35574290|PMID:36549658|PMID:8589702|PMID:9536098|PMID:9760197
8836033	Pax2	paired box 2	gene	DOID:0111101	renal cysts and diabetes syndrome		ISO	RGD:1313673	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Renal cysts and diabetes syndrome	PMID:27657687
8836033	Pax2	paired box 2	gene	DOID:0111132	focal segmental glomerulosclerosis 7		ISO	RGD:1313673	D	RGD:7240710	20180130	OMIM			
8836033	Pax2	paired box 2	gene	DOID:0111132	focal segmental glomerulosclerosis 7		ISO	RGD:1313673	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7 | ClinVar Annotator: match by term: PAX2-Related Disorder | ClinVar Annotator: match by term: PAX2-related disorder | ClinVar Annotator: match by term: focal segmental glomerulosclerosis 7	PMID:1093271|PMID:11461952|PMID:16199547|PMID:17576681|PMID:2|PMID:20221250|PMID:20301624|PMID:20358591|PMID:21380624|PMID:22213154|PMID:24429398|PMID:24676634|PMID:25640679|PMID:25741868|PMID:28492532|PMID:28518168|PMID:28566479|PMID:29194579|PMID:30348286|PMID:30773290|PMID:31027891|PMID:31060108|PMID:31328266|PMID:31937884|PMID:32203253|PMID:32461654|PMID:32604935|PMID:32776440|PMID:33226606|PMID:33712733|PMID:33997468|PMID:34031707|PMID:34059960|PMID:34696790|PMID:34979951|PMID:35444690|PMID:36549658|PMID:36938085|PMID:7795640|PMID:9536098|PMID:9760197
8836033	Pax2	paired box 2	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1313673	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	
8836033	Pax2	paired box 2	gene	DOID:12270	coloboma		ISO	RGD:1313673	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:25741868
8836033	Pax2	paired box 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1313673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:31001663
8836033	Pax2	paired box 2	gene	DOID:2154	nephroblastoma		ISO	RGD:1305568	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:7937920|REF_RGD_ID:2316757
8836033	Pax2	paired box 2	gene	DOID:2154	nephroblastoma		ISO	RGD:1313673	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:12057921|REF_RGD_ID:2316755
8836033	Pax2	paired box 2	gene	DOID:289	endometriosis		ISO	RGD:1313673	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22473392
8836033	Pax2	paired box 2	gene	DOID:2975	cystic kidney disease		ISO	RGD:1313673	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cystic kidney disease	
8836033	Pax2	paired box 2	gene	DOID:5176	renal Wilms' tumor		ISO	RGD:1313673	D	RGD:9068941	20221103	RGD		human tumor in mouse model	PMID:18467665|REF_RGD_ID:155631277
8836033	Pax2	paired box 2	gene	DOID:5723	optic atrophy		ISO	RGD:1313673	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8836033	Pax2	paired box 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836033	Pax2	paired box 2	gene	DOID:630	genetic disease		ISO	RGD:1313673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21380624|PMID:25741868|PMID:28492532|PMID:30348286|PMID:31937884|PMID:34059960|PMID:34215756|PMID:34696790|PMID:36549658
8836033	Pax2	paired box 2	gene	DOID:783	end stage renal disease		ISO	RGD:1313673	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16631587
8836033	Pax2	paired box 2	gene	DOID:784	chronic kidney disease	treatment	ISO	RGD:1313673	D	RGD:9068941	20221103	RGD		human cells in rat model	PMID:33298161|REF_RGD_ID:155631310
8836033	Pax2	paired box 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
8836033	Pax2	paired box 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1305568	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney cortex	PMID:15149326|REF_RGD_ID:2316747
8836033	Pax2	paired box 2	gene	DOID:9002739	Female Urogenital Diseases		ISO	RGD:1313673	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16002989
8836033	Pax2	paired box 2	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1305568	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney	PMID:12444203|REF_RGD_ID:727468
8836033	Pax2	paired box 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8836055	Pgr	progesterone receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8836055	Pgr	progesterone receptor	gene	DOID:0060074	ductal carcinoma in situ	disease_progression	ISO	RGD:731081	D	RGD:9068941	20200609	RGD			PMID:12628841|REF_RGD_ID:2289659
8836055	Pgr	progesterone receptor	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:3317	D	RGD:9068941	20200609	RGD		protein:decreased expression:ovary:	PMID:19698287|REF_RGD_ID:4145934
8836055	Pgr	progesterone receptor	gene	DOID:127	leiomyoma	no_association	ISO	RGD:731081	D	RGD:9068941	20200609	RGD			PMID:15807882|REF_RGD_ID:1601278
8836055	Pgr	progesterone receptor	gene	DOID:12700	hyperprolactinemia	susceptibility	ISO	RGD:731081	D	RGD:9068941	20200609	RGD			PMID:15807882|REF_RGD_ID:1601278
8836055	Pgr	progesterone receptor	gene	DOID:289	endometriosis		ISO	RGD:3317	D	RGD:9068941	20200609	RGD			PMID:21166214|REF_RGD_ID:7248704
8836055	Pgr	progesterone receptor	gene	DOID:289	endometriosis		ISO	RGD:731081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642|PMID:21232532
8836055	Pgr	progesterone receptor	gene	DOID:289	endometriosis		ISO	RGD:731081	D	RGD:9068941	20200609	RGD			PMID:16126772|REF_RGD_ID:1601277
8836055	Pgr	progesterone receptor	gene	DOID:299	adenocarcinoma		ISO	RGD:731081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15639718
8836055	Pgr	progesterone receptor	gene	DOID:305	carcinoma		ISO	RGD:731081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15637090
8836055	Pgr	progesterone receptor	gene	DOID:3275	thymoma		ISO	RGD:731081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8836055	Pgr	progesterone receptor	gene	DOID:3565	meningioma		ISO	RGD:731081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19731987|PMID:19747051|PMID:8008172
8836055	Pgr	progesterone receptor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8836055	Pgr	progesterone receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836055	Pgr	progesterone receptor	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:731081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15637090
8836055	Pgr	progesterone receptor	gene	DOID:9000998	Brain Injuries		ISO	RGD:3317	D	RGD:9068941	20200609	RGD			PMID:23211561|REF_RGD_ID:7248711
8836055	Pgr	progesterone receptor	gene	DOID:9002801	Recurrence		ISO	RGD:731081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19747051
8836055	Pgr	progesterone receptor	gene	DOID:9003566	Mesothelioma		ISO	RGD:731081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15639718
8836055	Pgr	progesterone receptor	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:731081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15637090
8836055	Pgr	progesterone receptor	gene	DOID:9006882	Progesterone Resistance		ISO	RGD:731081	D	RGD:7240710	20180130	OMIM			
8836055	Pgr	progesterone receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8836055	Pgr	progesterone receptor	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:731081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23200943
8836055	Pgr	progesterone receptor	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:731081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19436038|PMID:21501481
8836055	Pgr	progesterone receptor	gene	DOID:9970	obesity		ISO	RGD:731081	D	RGD:9068941	20200609	RGD		DNA:polymorphism:CDS:PROGINS polymorphism, combination of long polyglutamine repeat in NCOA3 and homozygous A1/A1 PGR PROGINS genotype associated with obesity in 301 postmenopausal women with breast cancer	PMID:14557830|REF_RGD_ID:1642050
8836070	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8836070	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8836070	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8836070	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:1115	sarcoma		ISO	RGD:1318271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8836070	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:1909	melanoma		ISO	RGD:1318271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8836070	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8836070	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318271	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8836070	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318271	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8836070	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836070	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318271	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8836070	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8836070	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8836109	Matn2	matrilin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8836109	Matn2	matrilin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8836109	Matn2	matrilin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8836109	Matn2	matrilin 2	gene	DOID:1324	lung cancer		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8836109	Matn2	matrilin 2	gene	DOID:1909	melanoma		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8836109	Matn2	matrilin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313328	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8836109	Matn2	matrilin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8836109	Matn2	matrilin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836109	Matn2	matrilin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8836109	Matn2	matrilin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8836109	Matn2	matrilin 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8836109	Matn2	matrilin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8836109	Matn2	matrilin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8836136	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:0050729	Chanarin-Dorfman syndrome		ISO	RGD:1354502	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neutral lipid storage myopathy	PMID:16199547|PMID:16644682|PMID:17187067|PMID:17576681|PMID:18952067|PMID:19763152|PMID:20307669|PMID:21170305|PMID:21544567|PMID:22406018|PMID:22832386|PMID:22990388|PMID:23232698|PMID:25287355|PMID:25741868|PMID:26602809|PMID:26922712|PMID:27869069|PMID:28391974|PMID:28492532|PMID:28499397|PMID:30738494|PMID:31525260|PMID:32041611|PMID:35342266|PMID:35460704|PMID:9536098
8836136	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8836136	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:0051064	left ventricular failure		ISO	RGD:1354502	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35218467
8836136	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:114	heart disease		ISO	RGD:1354502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21585347|PMID:23867907
8836136	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1354502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8836136	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:12932	endomyocardial fibrosis		ISO	RGD:1354502	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35218467
8836136	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:1324	lung cancer		ISO	RGD:1354502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8836136	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:3275	thymoma		ISO	RGD:1354502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8836136	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:423	myopathy		ISO	RGD:1354502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:17187067|PMID:21544567|PMID:25741868|PMID:28492532
8836136	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:4362	cervical cancer		ISO	RGD:1354502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8836136	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8836136	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
8836136	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:6000	congestive heart failure		ISO	RGD:1354502	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35218467
8836136	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:630	genetic disease		ISO	RGD:1354502	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17187067|PMID:21073837|PMID:21544567|PMID:25363365|PMID:25741868|PMID:28492532|PMID:33569515
8836136	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:9004438	Neutral Lipid Storage Disease with Myopathy		ISO	RGD:1354502	D	RGD:7240710	20180130	OMIM			
8836136	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:9004438	Neutral Lipid Storage Disease with Myopathy		ISO	RGD:1354502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY | ClinVar Annotator: match by term: Neutral lipid storage disease with myopathy | ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis	PMID:16199547|PMID:16644682|PMID:17187067|PMID:18445597|PMID:21170305|PMID:21544567|PMID:22832386|PMID:22990388|PMID:23449549|PMID:25741868|PMID:28492532|PMID:28499397
8836136	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1354502	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35218467
8836136	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8836136	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8836173	Dab2	DAB adaptor protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:30302009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8836173	Dab2	DAB adaptor protein 2	gene	DOID:0050758	metabolic acidosis		ISO	RGD:621007	D	RGD:9068941	20220421	RGD		protein:decreased expression:brush border membrane	PMID:22357915|REF_RGD_ID:7243154
8836173	Dab2	DAB adaptor protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:30302009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8836173	Dab2	DAB adaptor protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:30302009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8836173	Dab2	DAB adaptor protein 2	gene	DOID:1115	sarcoma		ISO	RGD:30302009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8836173	Dab2	DAB adaptor protein 2	gene	DOID:1324	lung cancer		ISO	RGD:30302009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8836173	Dab2	DAB adaptor protein 2	gene	DOID:1909	melanoma		ISO	RGD:30302009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8836173	Dab2	DAB adaptor protein 2	gene	DOID:3275	thymoma		ISO	RGD:30302009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8836173	Dab2	DAB adaptor protein 2	gene	DOID:3305	teratocarcinoma		ISO	RGD:30302009	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Teratocarcinoma	PMID:25741868
8836173	Dab2	DAB adaptor protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:30302009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8836173	Dab2	DAB adaptor protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:30302009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8836173	Dab2	DAB adaptor protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:30302009	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8836173	Dab2	DAB adaptor protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:30302009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836173	Dab2	DAB adaptor protein 2	gene	DOID:5844	myocardial infarction		ISO	RGD:621007	D	RGD:9068941	20220421	RGD			PMID:20666606|REF_RGD_ID:7243158
8836173	Dab2	DAB adaptor protein 2	gene	DOID:5844	myocardial infarction		ISO	RGD:621007	D	RGD:9068941	20220421	RGD		protein:increased expression:cardiomyocyte	PMID:21762377|REF_RGD_ID:7243156
8836173	Dab2	DAB adaptor protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:30302009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8836173	Dab2	DAB adaptor protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:30302009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8836173	Dab2	DAB adaptor protein 2	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:621007	D	RGD:9068941	20220421	RGD		protein:increased expression:spinal cord	PMID:17317100|REF_RGD_ID:7243246
8836173	Dab2	DAB adaptor protein 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:621007	D	RGD:9068941	20220421	RGD			PMID:15774263|REF_RGD_ID:7243841
8836173	Dab2	DAB adaptor protein 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	disease_progression	ISO	RGD:621007	D	RGD:9068941	20220421	RGD			PMID:21890121|REF_RGD_ID:7243155
8836173	Dab2	DAB adaptor protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:30302009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8836200	Depdc1	DEP domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8836200	Depdc1	DEP domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8836200	Depdc1	DEP domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1315914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8836200	Depdc1	DEP domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8836200	Depdc1	DEP domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8836200	Depdc1	DEP domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8836200	Depdc1	DEP domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315914	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
8836200	Depdc1	DEP domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8836229	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351512	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
8836229	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:0050765	neuroacanthocytosis		ISO	RGD:1351512	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11761473|PMID:8619554
8836229	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:0112107	McLeod syndrome		ISO	RGD:1351512	D	RGD:7240710	20180130	OMIM			
8836229	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:0112107	McLeod syndrome		ISO	RGD:1351512	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MCLEOD SYNDROME | ClinVar Annotator: match by term: XK-related condition	PMID:11761473|PMID:17133513|PMID:28492532
8836229	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:150	disease of mental health		ISO	RGD:1351512	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11261514
8836229	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1351512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8836229	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:440	neuromuscular disease		ISO	RGD:1351512	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8004674|PMID:8619554
8836229	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:480	movement disease		ISO	RGD:1351512	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11261514
8836229	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1351512	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11761473
8836229	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8836229	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:630	genetic disease		ISO	RGD:1351512	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8836229	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:74	hematopoietic system disease		ISO	RGD:1351512	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8004674|PMID:8619554
8836229	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:74	hematopoietic system disease		ISO	RGD:1351512	D	RGD:9068941	20200609	RGD		McLeod syndrome, OMIM:314850	PMID:8004674|REF_RGD_ID:1354522
8836229	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:9006065	Arthralgia		ISO	RGD:1351512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:25741868
8836229	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:9006386	Scapulohumeral Muscular Dystrophy		ISO	RGD:1351512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scapulohumeral muscular dystrophy	PMID:25741868
8836229	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8836229	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8836229	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:9884	muscular dystrophy		ISO	RGD:1351512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868
8836236	Dmrtc2	DMRT like family C2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8836267	Czib	CXXC motif containing zinc binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8836267	Czib	CXXC motif containing zinc binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8836267	Czib	CXXC motif containing zinc binding protein	gene	DOID:0060235	carnitine palmitoyltransferase II deficiency		ISO	RGD:1603028	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase deficiency type 2	
8836267	Czib	CXXC motif containing zinc binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8836267	Czib	CXXC motif containing zinc binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1603028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8836267	Czib	CXXC motif containing zinc binding protein	gene	DOID:1909	melanoma		ISO	RGD:1603028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8836267	Czib	CXXC motif containing zinc binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1603028	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8836267	Czib	CXXC motif containing zinc binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836267	Czib	CXXC motif containing zinc binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8836267	Czib	CXXC motif containing zinc binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8836267	Czib	CXXC motif containing zinc binding protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1603028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8836287	Pdik1l	PDLIM1 interacting kinase 1 like	gene	DOID:1115	sarcoma		ISO	RGD:1352576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8836287	Pdik1l	PDLIM1 interacting kinase 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836296	Mettl1	methyltransferase 1, tRNA methylguanosine	gene	DOID:1115	sarcoma		ISO	RGD:1352209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8836296	Mettl1	methyltransferase 1, tRNA methylguanosine	gene	DOID:4362	cervical cancer		ISO	RGD:1352209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8836296	Mettl1	methyltransferase 1, tRNA methylguanosine	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8836306	Ltb	lymphotoxin beta	gene	DOID:0060058	lymphoma		ISO	RGD:1353964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8836306	Ltb	lymphotoxin beta	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1353964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8836306	Ltb	lymphotoxin beta	gene	DOID:1909	melanoma		ISO	RGD:1353964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8836306	Ltb	lymphotoxin beta	gene	DOID:2773	contact dermatitis		ISO	RGD:1551006	D	RGD:9068941	20200609	RGD			PMID:11390430|REF_RGD_ID:8548819
8836306	Ltb	lymphotoxin beta	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1353964	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8836306	Ltb	lymphotoxin beta	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:1551006	D	RGD:9068941	20200609	RGD			PMID:17911622|REF_RGD_ID:8548820
8836306	Ltb	lymphotoxin beta	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:1551006	D	RGD:9068941	20200609	RGD			PMID:12115620|REF_RGD_ID:8548822
8836320	Glis2	GLIS family zinc finger 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8836320	Glis2	GLIS family zinc finger 2	gene	DOID:0110989	Joubert syndrome 20		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 20	PMID:25741868
8836320	Glis2	GLIS family zinc finger 2	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:25741868|PMID:28492532
8836320	Glis2	GLIS family zinc finger 2	gene	DOID:0111116	nephronophthisis 7		ISO	RGD:1345602	D	RGD:7240710	20180130	OMIM			
8836320	Glis2	GLIS family zinc finger 2	gene	DOID:0111116	nephronophthisis 7		ISO	RGD:1345602	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLIS2-related condition | ClinVar Annotator: match by term: NEPHRONOPHTHISIS 7 | ClinVar Annotator: match by term: Nephronophthisis 7	PMID:25741868|PMID:28492532
8836320	Glis2	GLIS family zinc finger 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8836320	Glis2	GLIS family zinc finger 2	gene	DOID:1115	sarcoma		ISO	RGD:1345602	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8836320	Glis2	GLIS family zinc finger 2	gene	DOID:12712	nephronophthisis		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:25741868|PMID:28492532|PMID:34917135
8836320	Glis2	GLIS family zinc finger 2	gene	DOID:12712	nephronophthisis		ISO	RGD:1345602	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:25741868|PMID:28492532
8836320	Glis2	GLIS family zinc finger 2	gene	DOID:3070	high grade glioma		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8836320	Glis2	GLIS family zinc finger 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8836320	Glis2	GLIS family zinc finger 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345602	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8836320	Glis2	GLIS family zinc finger 2	gene	DOID:557	kidney disease		ISO	RGD:1345602	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:17618285
8836320	Glis2	GLIS family zinc finger 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345602	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836320	Glis2	GLIS family zinc finger 2	gene	DOID:783	end stage renal disease		ISO	RGD:1345602	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	
8836320	Glis2	GLIS family zinc finger 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8836320	Glis2	GLIS family zinc finger 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8836320	Glis2	GLIS family zinc finger 2	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1345602	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
8836335	Me1	malic enzyme 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8836335	Me1	malic enzyme 1	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:736133	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:32929351
8836335	Me1	malic enzyme 1	gene	DOID:0080600	COVID-19		ISO	RGD:736133	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8836335	Me1	malic enzyme 1	gene	DOID:10534	stomach cancer		ISO	RGD:736133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8836335	Me1	malic enzyme 1	gene	DOID:1115	sarcoma		ISO	RGD:736133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8836335	Me1	malic enzyme 1	gene	DOID:1909	melanoma		ISO	RGD:736133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8836335	Me1	malic enzyme 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8836335	Me1	malic enzyme 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8836335	Me1	malic enzyme 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836335	Me1	malic enzyme 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8836335	Me1	malic enzyme 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736133	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21147110
8836335	Me1	malic enzyme 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8836335	Me1	malic enzyme 1	gene	DOID:9004657	Weight Gain		ISO	RGD:736133	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
8836335	Me1	malic enzyme 1	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:3074	D	RGD:9068941	20220224	RGD		mRNA:increased expression:right ventricle	PMID:23794090|REF_RGD_ID:151361111
8836335	Me1	malic enzyme 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8836335	Me1	malic enzyme 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736133	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
8836335	Me1	malic enzyme 1	gene	DOID:9970	obesity		ISO	RGD:736133	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270708
8836357	Ptp4a3	protein tyrosine phosphatase 4A3	gene	DOID:1115	sarcoma		ISO	RGD:1318604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8836357	Ptp4a3	protein tyrosine phosphatase 4A3	gene	DOID:1909	melanoma		ISO	RGD:1318604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8836357	Ptp4a3	protein tyrosine phosphatase 4A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836357	Ptp4a3	protein tyrosine phosphatase 4A3	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1318604	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23555575
8836357	Ptp4a3	protein tyrosine phosphatase 4A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8836376	Cfd	complement factor D	gene	DOID:10320	asbestosis		ISO	RGD:736531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22832039
8836376	Cfd	complement factor D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8836376	Cfd	complement factor D	gene	DOID:1556	arthus reaction		ISO	RGD:2498	D	RGD:9068941	20200609	RGD			PMID:10605043|REF_RGD_ID:1624328
8836376	Cfd	complement factor D	gene	DOID:289	endometriosis		ISO	RGD:736531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
8836376	Cfd	complement factor D	gene	DOID:2921	glomerulonephritis		ISO	RGD:736531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14675043
8836376	Cfd	complement factor D	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:736531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22832039
8836376	Cfd	complement factor D	gene	DOID:5119	ovarian cyst		ISO	RGD:736531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
8836376	Cfd	complement factor D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:28492532|PMID:9536098
8836376	Cfd	complement factor D	gene	DOID:6000	congestive heart failure		ISO	RGD:736531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26670611
8836376	Cfd	complement factor D	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:736531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11457876|PMID:16527897
8836376	Cfd	complement factor D	gene	DOID:9001385	Complement Factor D Deficiency		ISO	RGD:736531	D	RGD:7240710	20180130	OMIM			
8836376	Cfd	complement factor D	gene	DOID:9001385	Complement Factor D Deficiency		ISO	RGD:736531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CFD-related condition | ClinVar Annotator: match by term: Recurrent Neisseria infections due to factor D deficiency	PMID:25741868|PMID:28492532|PMID:38096369
8836376	Cfd	complement factor D	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8836376	Cfd	complement factor D	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2498	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:8372111|REF_RGD_ID:1624344
8836376	Cfd	complement factor D	gene	DOID:9006474	Arterial Occlusive Diseases		ISO	RGD:736531	D	RGD:9068941	20230831	RGD		mRNA:decreased expression:leg blood vessel (human)	PMID:22721676|REF_RGD_ID:401793723
8836376	Cfd	complement factor D	gene	DOID:9008366	Meningococcal Infections		ISO	RGD:736531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16527897
8836376	Cfd	complement factor D	gene	DOID:9008538	Neisseriaceae Infections		ISO	RGD:736531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11457876
8836376	Cfd	complement factor D	gene	DOID:9008632	gastrointestinal toxicity		ISO	RGD:2498	D	RGD:9068941	20260409	RGD		mRNA,protein:increased expression: ileum,plasma, feces :	PMID:12949072|REF_RGD_ID:1298875
8836376	Cfd	complement factor D	gene	DOID:9970	obesity		ISO	RGD:2498	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:adipocyte, serum	PMID:2197880|REF_RGD_ID:1624327
8836376	Cfd	complement factor D	gene	DOID:9970	obesity		ISO	RGD:736531	D	RGD:9068941	20200609	RGD			PMID:14564690|REF_RGD_ID:1624324
8836391	Tbx19	T-box transcription factor 19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8836391	Tbx19	T-box transcription factor 19	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868
8836391	Tbx19	T-box transcription factor 19	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1320875	D	RGD:9068941	20231102	RGD		DNA:SNP:: (rs1003502) (human)	PMID:18438686|REF_RGD_ID:401851917
8836391	Tbx19	T-box transcription factor 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8836391	Tbx19	T-box transcription factor 19	gene	DOID:0080150	adrenocorticotropic hormone deficiency		ISO	RGD:1320875	D	RGD:7240710	20180130	OMIM			
8836391	Tbx19	T-box transcription factor 19	gene	DOID:0080150	adrenocorticotropic hormone deficiency		ISO	RGD:1320875	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACTH DEFICIENCY, ISOLATED | ClinVar Annotator: match by term: ACTH deficiency | ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency | ClinVar Annotator: match by term: TBX19-related condition	PMID:12651888|PMID:15476446|PMID:15613420|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8836391	Tbx19	T-box transcription factor 19	gene	DOID:1115	sarcoma		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8836391	Tbx19	T-box transcription factor 19	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
8836391	Tbx19	T-box transcription factor 19	gene	DOID:13620	patent foramen ovale		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
8836391	Tbx19	T-box transcription factor 19	gene	DOID:1459	hypothyroidism		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
8836391	Tbx19	T-box transcription factor 19	gene	DOID:1574	alcohol use disorder		ISO	RGD:1320875	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
8836391	Tbx19	T-box transcription factor 19	gene	DOID:1826	epilepsy		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8836391	Tbx19	T-box transcription factor 19	gene	DOID:4362	cervical cancer		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8836391	Tbx19	T-box transcription factor 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1320875	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8836391	Tbx19	T-box transcription factor 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836391	Tbx19	T-box transcription factor 19	gene	DOID:6000	congestive heart failure		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congestive heart failure	PMID:25741868
8836391	Tbx19	T-box transcription factor 19	gene	DOID:630	genetic disease		ISO	RGD:1320875	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8836391	Tbx19	T-box transcription factor 19	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1320875	D	RGD:9068941	20200609	RGD		ACTH deficiency, OMIM:201400	PMID:11290323|REF_RGD_ID:1599334
8836391	Tbx19	T-box transcription factor 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8836391	Tbx19	T-box transcription factor 19	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868
8836391	Tbx19	T-box transcription factor 19	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:25741868
8836391	Tbx19	T-box transcription factor 19	gene	DOID:9000957	lymphatic malformation 6		ISO	RGD:1320875	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Lymphedema, hereditary, III	PMID:25741868
8836391	Tbx19	T-box transcription factor 19	gene	DOID:9002532	Neonatal Hyperbilirubinemia		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hyperbilirubinemia	
8836391	Tbx19	T-box transcription factor 19	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868
8836391	Tbx19	T-box transcription factor 19	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8836391	Tbx19	T-box transcription factor 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8836391	Tbx19	T-box transcription factor 19	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
8836391	Tbx19	T-box transcription factor 19	gene	DOID:9007573	Flatfoot		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
8836391	Tbx19	T-box transcription factor 19	gene	DOID:9007661	Dwarfism		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8836391	Tbx19	T-box transcription factor 19	gene	DOID:9008622	Adrenal Insufficiency		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal insufficiency	PMID:25741868
8836391	Tbx19	T-box transcription factor 19	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8836391	Tbx19	T-box transcription factor 19	gene	DOID:9993	hypoglycemia		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
8836409	Guca1a	guanylate cyclase activator 1A	gene	DOID:0080314	cone-rod dystrophy 14		ISO	RGD:30301436	D	RGD:7240710	20200708	OMIM			
8836409	Guca1a	guanylate cyclase activator 1A	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:11665245|RGD:11665246|RGD:11665293|RGD:11665337|RGD:11665360|RGD:11665421|RGD:11665600|RGD:11665634|RGD:11665654|RGD:11665758|RGD:11665852|RGD:11666055|RGD:11666143|RGD:11666210|RGD:11666263|RGD:11666286|RGD:11666399|RGD:11666553|RGD:11666574|RGD:11666603|RGD:11666620|RGD:11666785|RGD:11666786	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	
8836421	Cst6	cystatin E/M	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8836421	Cst6	cystatin E/M	gene	DOID:0060713	autosomal recessive congenital ichthyosis 4B		ISO	RGD:733622	D	RGD:9068941	20220825	MouseDO		OMIM:242500	
8836421	Cst6	cystatin E/M	gene	DOID:0111651	ectodermal dysplasia 15		ISO	RGD:1352727	D	RGD:7240710	20190904	OMIM			
8836421	Cst6	cystatin E/M	gene	DOID:0111651	ectodermal dysplasia 15		ISO	RGD:1352727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type	PMID:25741868
8836421	Cst6	cystatin E/M	gene	DOID:1909	melanoma		ISO	RGD:1352727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
8836421	Cst6	cystatin E/M	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1352727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17043644
8836421	Cst6	cystatin E/M	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1352727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19503093
8836421	Cst6	cystatin E/M	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8836421	Cst6	cystatin E/M	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1352727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17043665
8836432	Pvalb	parvalbumin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8836432	Pvalb	parvalbumin	gene	DOID:11832	visual epilepsy		ISO	RGD:735961	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:18495095
8836432	Pvalb	parvalbumin	gene	DOID:2468	psychotic disorder		ISO	RGD:735961	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14708030
8836432	Pvalb	parvalbumin	gene	DOID:3312	bipolar disorder		ISO	RGD:735961	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14708030
8836432	Pvalb	parvalbumin	gene	DOID:4450	renal cell carcinoma		ISO	RGD:735961	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16927643
8836432	Pvalb	parvalbumin	gene	DOID:5389	oxyphilic adenoma		ISO	RGD:735961	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16927643
8836432	Pvalb	parvalbumin	gene	DOID:5419	schizophrenia		ISO	RGD:735961	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14708030
8836432	Pvalb	parvalbumin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8836441	Sub1	SUB1 regulator of transcription	gene	DOID:3275	thymoma		ISO	RGD:1605698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8836441	Sub1	SUB1 regulator of transcription	gene	DOID:4362	cervical cancer		ISO	RGD:1605698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8836441	Sub1	SUB1 regulator of transcription	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836441	Sub1	SUB1 regulator of transcription	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8836441	Sub1	SUB1 regulator of transcription	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8836441	Sub1	SUB1 regulator of transcription	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8836441	Sub1	SUB1 regulator of transcription	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8836441	Sub1	SUB1 regulator of transcription	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8836456	Ago1	argonaute RISC component 1	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1312163	D	RGD:9068941	20231116	RGD		DNA:SNP:intron:A>G(rs595961)(human)	PMID:25495208|REF_RGD_ID:401900681
8836456	Ago1	argonaute RISC component 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8836456	Ago1	argonaute RISC component 1	gene	DOID:1059	intellectual disability		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25356899|PMID:25741868|PMID:28492532|PMID:30213762|PMID:33057194|PMID:34930816
8836456	Ago1	argonaute RISC component 1	gene	DOID:11782	astigmatism		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
8836456	Ago1	argonaute RISC component 1	gene	DOID:1324	lung cancer		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8836456	Ago1	argonaute RISC component 1	gene	DOID:13620	patent foramen ovale		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
8836456	Ago1	argonaute RISC component 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
8836456	Ago1	argonaute RISC component 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1312163	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
8836456	Ago1	argonaute RISC component 1	gene	DOID:1826	epilepsy		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8836456	Ago1	argonaute RISC component 1	gene	DOID:1909	melanoma		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8836456	Ago1	argonaute RISC component 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8836456	Ago1	argonaute RISC component 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8836456	Ago1	argonaute RISC component 1	gene	DOID:3275	thymoma		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8836456	Ago1	argonaute RISC component 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312163	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8836456	Ago1	argonaute RISC component 1	gene	DOID:540	strabismus		ISO	RGD:1312163	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:33144682
8836456	Ago1	argonaute RISC component 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8836456	Ago1	argonaute RISC component 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836456	Ago1	argonaute RISC component 1	gene	DOID:630	genetic disease		ISO	RGD:1312163	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23809764|PMID:25356899|PMID:25741868|PMID:30213762|PMID:34930816
8836456	Ago1	argonaute RISC component 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:30213762
8836456	Ago1	argonaute RISC component 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312163	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:33144682
8836456	Ago1	argonaute RISC component 1	gene	DOID:9006049	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES		ISO	RGD:1312163	D	RGD:7240710	20230505	OMIM			
8836456	Ago1	argonaute RISC component 1	gene	DOID:9006049	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES		ISO	RGD:1312163	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AGO1-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures	PMID:25356899|PMID:25741868|PMID:28492532|PMID:30213762|PMID:33057194|PMID:33144682|PMID:34930816
8836456	Ago1	argonaute RISC component 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8836456	Ago1	argonaute RISC component 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1312163	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:33144682
8836456	Ago1	argonaute RISC component 1	gene	DOID:9007845	Encopresis		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encopresis	PMID:25741868
8836456	Ago1	argonaute RISC component 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8836456	Ago1	argonaute RISC component 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8836456	Ago1	argonaute RISC component 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8836456	Ago1	argonaute RISC component 1	gene	DOID:9840	esotropia		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868
8836456	Ago1	argonaute RISC component 1	gene	DOID:9993	hypoglycemia		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:731036	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Jeune syndrome	
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:731036	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17008600
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:0050852	limb ischemia	treatment	ISO	RGD:2062	D	RGD:9068941	20200609	RGD			PMID:26604244|REF_RGD_ID:13514042
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:731036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:10762	portal hypertension		ISO	RGD:2062	D	RGD:9068941	20200609	RGD		protein:increased expression:endothelial cell, liver sinusoid	PMID:16142243|REF_RGD_ID:1580269
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:10762	portal hypertension	treatment	ISO	RGD:2062	D	RGD:9068941	20200609	RGD			PMID:25469036|REF_RGD_ID:13514048
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:10763	hypertension		ISO	RGD:2062	D	RGD:9068941	20200609	RGD		protein:increased expression:lymphocyte, vascular associated smooth muscle cell	PMID:10642272|REF_RGD_ID:1625788
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:10763	hypertension		ISO	RGD:731036	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11901213
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:10763	hypertension	treatment	ISO	RGD:2062	D	RGD:9068941	20200609	RGD			PMID:23913704|REF_RGD_ID:13792716
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:731036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:1287	cardiovascular system disease		ISO	RGD:731036	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26032411
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:731036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:14115	toxic shock syndrome		ISO	RGD:731036	D	RGD:9068941	20210507	RGD		mRNA:decreased expression:polymorphonuclear leukocyte	PMID:24465168|REF_RGD_ID:126848796
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:2062	D	RGD:9068941	20200609	RGD		Protein: decreased expression: brain	PMID:17996024|REF_RGD_ID:5685370
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:1875	impotence		ISO	RGD:2062	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:30226217|REF_RGD_ID:13792691
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:1909	melanoma		ISO	RGD:731036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:2559	opiate dependence		ISO	RGD:731036	D	RGD:9068941	20231214	RGD		protein:decreased expression:pre-frontal cortex	PMID:14969742|REF_RGD_ID:401901596
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:731036	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:3070	high grade glioma		ISO	RGD:731036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:3829	pituitary adenoma		ISO	RGD:731036	D	RGD:9068941	20200609	RGD		mRNA:altered expression:pituitary gland (human)	PMID:24169548|REF_RGD_ID:13792706
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:4195	hyperglycemia		ISO	RGD:2062	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:16478977|REF_RGD_ID:1625789
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:731036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:731036	D	RGD:9068941	20200609	RGD		associated with hepatitis B;protein:increased expression:mesenteric artery (human)	PMID:23742775|REF_RGD_ID:13792718
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:731036	D	RGD:9068941	20231214	RGD		protein:increased expression:hepatic artery	PMID:17256744|REF_RGD_ID:1625784
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:6000	congestive heart failure		ISO	RGD:10111	D	RGD:9068941	20200609	RGD			PMID:11331748|REF_RGD_ID:737776
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:6000	congestive heart failure		ISO	RGD:2062	D	RGD:9068941	20200609	RGD		associated with Hypertrophy, Left Ventricular and Hypertension;protein:increased expression, increased activity:heart left ventricle, cytosol (rat)	PMID:9931137|REF_RGD_ID:1625790
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:6000	congestive heart failure		ISO	RGD:731036	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26670611
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:6000	congestive heart failure		ISO	RGD:731036	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:26248277|REF_RGD_ID:11535540
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:2062	D	RGD:9068941	20200609	RGD			PMID:29247373|REF_RGD_ID:13506830
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:10111	D	RGD:9068941	20200609	RGD		DNA: deletion: : heterozygous	PMID:18662895|REF_RGD_ID:5688373
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:731036	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10094932
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:731036	D	RGD:9068941	20200609	RGD		protein: decreased expression: mononuclear leukocytes	PMID:10094932|REF_RGD_ID:5688380
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:874	bacterial pneumonia		ISO	RGD:731036	D	RGD:9068941	20210507	RGD		mRNA:decreased expression:polymorphonuclear leukocyte	PMID:24465168|REF_RGD_ID:126848796
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9000352	Vascular System Injuries		ISO	RGD:2062	D	RGD:9068941	20200609	RGD		protein:increased expression:aorta (rat)	PMID:28653218|REF_RGD_ID:13513975
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2062	D	RGD:9068941	20200609	RGD		protein:increased expression:aorta	PMID:17256744|REF_RGD_ID:1625784
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:2062	D	RGD:9068941	20200609	RGD			PMID:23196710|REF_RGD_ID:13792785
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9002211	Hyperalgesia	severity	ISO	RGD:2062	D	RGD:9068941	20200609	RGD			PMID:22796071|REF_RGD_ID:13792780
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:2062	D	RGD:9068941	20200609	RGD			PMID:26064176|REF_RGD_ID:13514046
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:2062	D	RGD:9068941	20200609	RGD		associated with Complex Regional Pain Syndromes	PMID:25466829|REF_RGD_ID:13514049
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:2062	D	RGD:9068941	20200609	RGD		associated with bone cancer	PMID:26935064|REF_RGD_ID:13513996
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9002311	Experimental Autoimmune Myocarditis	treatment	ISO	RGD:2062	D	RGD:9068941	20200609	RGD			PMID:30024944|REF_RGD_ID:13792695
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:731036	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: marker/mechanism	PMID:39914624
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2062	D	RGD:9068941	20200609	RGD		protein:increased expression:aorta (rat)	PMID:28653218|REF_RGD_ID:13513975
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9002457	Experimental Arthritis	disease_progression	ISO	RGD:2062	D	RGD:9068941	20200609	RGD		protein:altered expression:T cell (rat)	PMID:28349925|REF_RGD_ID:13513979
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:2062	D	RGD:9068941	20260402	RGD			PMID:28631356|PMID:29473135|REF_RGD_ID:13513976|REF_RGD_ID:640480075
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:10111	D	RGD:9068941	20200609	RGD		protein:increased expression:heart left ventricle (mouse)	PMID:23969695|REF_RGD_ID:13792712
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:731036	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11901213
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9003936	Cardiomegaly	severity	ISO	RGD:10111	D	RGD:9068941	20200609	RGD			PMID:25982117|REF_RGD_ID:11052788
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9004484	Sepsis		ISO	RGD:731036	D	RGD:9068941	20200609	RGD		protein: increased expression: neutrophils	PMID:16849637|REF_RGD_ID:5688378
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:10111	D	RGD:9068941	20200609	RGD			PMID:9618528|REF_RGD_ID:737775
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:731036	D	RGD:9068941	20200609	RGD		associated with Hypertension;protein:increased expression:lymphocyte	PMID:15097244|REF_RGD_ID:1625786
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9004616	Left Ventricular Hypertrophy	severity	ISO	RGD:10111	D	RGD:9068941	20200609	RGD			PMID:28759639|REF_RGD_ID:13513977
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9004616	Left Ventricular Hypertrophy	treatment	ISO	RGD:2062	D	RGD:9068941	20200609	RGD			PMID:26224342|REF_RGD_ID:11534182
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9004994	Embryo Loss		ISO	RGD:731036	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17008600
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:731036	D	RGD:9068941	20200609	RGD		protein:decreased expression:prefrontal cortex (human)	PMID:23727505|REF_RGD_ID:13792719
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9005835	Congenital Abnormalities		ISO	RGD:731036	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17008600
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9005968	Neuralgia	treatment	ISO	RGD:2062	D	RGD:9068941	20200609	RGD			PMID:24216329|REF_RGD_ID:13792703
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:2062	D	RGD:9068941	20200609	RGD		protein:increased activity:heart right ventricel (rat)	PMID:23124027|REF_RGD_ID:13792786
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9006202	Pruritus	severity	ISO	RGD:10111	D	RGD:9068941	20200609	RGD			PMID:29530536|REF_RGD_ID:13513974
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:10111	D	RGD:9068941	20200609	RGD			PMID:15994203|REF_RGD_ID:1625791
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9007730	Burns		ISO	RGD:2062	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart left ventricle (rat)	PMID:29232706|REF_RGD_ID:13506829
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:10111	D	RGD:9068941	20200609	RGD		protein:increased expression:heart, mitochondrion (mouse)	PMID:23467820|REF_RGD_ID:13792779
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9007838	Myocardial Reperfusion Injury	severity	ISO	RGD:10111	D	RGD:9068941	20200609	RGD			PMID:24170934|REF_RGD_ID:13792704
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9007838	Myocardial Reperfusion Injury	susceptibility	ISO	RGD:10111	D	RGD:9068941	20200609	RGD			PMID:27601479|REF_RGD_ID:13513993
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:2062	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:27865836|REF_RGD_ID:13513990
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:2062	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:27296507|REF_RGD_ID:13513995
8836503	Grk2	G protein-coupled receptor kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8836538	Fbxl17	F-box and leucine rich repeat protein 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8836538	Fbxl17	F-box and leucine rich repeat protein 17	gene	DOID:1324	lung cancer		ISO	RGD:1348950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8836538	Fbxl17	F-box and leucine rich repeat protein 17	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8836538	Fbxl17	F-box and leucine rich repeat protein 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836538	Fbxl17	F-box and leucine rich repeat protein 17	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8836538	Fbxl17	F-box and leucine rich repeat protein 17	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348950	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
8836538	Fbxl17	F-box and leucine rich repeat protein 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8836538	Fbxl17	F-box and leucine rich repeat protein 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8836550	Ppdpfl	pancreatic progenitor cell differentiation and proliferation factor like	gene	DOID:1324	lung cancer		ISO	RGD:1349468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8836559	Ugdh	UDP-glucose 6-dehydrogenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8836559	Ugdh	UDP-glucose 6-dehydrogenase	gene	DOID:0112219	developmental and epileptic encephalopathy 84		ISO	RGD:734073	D	RGD:7240710	20200318	OMIM			
8836559	Ugdh	UDP-glucose 6-dehydrogenase	gene	DOID:0112219	developmental and epileptic encephalopathy 84		ISO	RGD:734073	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 84 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 84	PMID:25741868|PMID:32001716
8836559	Ugdh	UDP-glucose 6-dehydrogenase	gene	DOID:10534	stomach cancer		ISO	RGD:734073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8836559	Ugdh	UDP-glucose 6-dehydrogenase	gene	DOID:1324	lung cancer		ISO	RGD:734073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8836559	Ugdh	UDP-glucose 6-dehydrogenase	gene	DOID:1827	generalized epilepsy		ISO	RGD:734073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic Encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868|PMID:32001716
8836559	Ugdh	UDP-glucose 6-dehydrogenase	gene	DOID:1909	melanoma		ISO	RGD:734073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8836559	Ugdh	UDP-glucose 6-dehydrogenase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8836559	Ugdh	UDP-glucose 6-dehydrogenase	gene	DOID:2394	ovarian cancer		ISO	RGD:734073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8836559	Ugdh	UDP-glucose 6-dehydrogenase	gene	DOID:3275	thymoma		ISO	RGD:734073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8836559	Ugdh	UDP-glucose 6-dehydrogenase	gene	DOID:4362	cervical cancer		ISO	RGD:734073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8836559	Ugdh	UDP-glucose 6-dehydrogenase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8836559	Ugdh	UDP-glucose 6-dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836559	Ugdh	UDP-glucose 6-dehydrogenase	gene	DOID:6039	uveal melanoma		ISO	RGD:734073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8836559	Ugdh	UDP-glucose 6-dehydrogenase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8836559	Ugdh	UDP-glucose 6-dehydrogenase	gene	DOID:630	genetic disease		ISO	RGD:734073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:32001716
8836559	Ugdh	UDP-glucose 6-dehydrogenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8836559	Ugdh	UDP-glucose 6-dehydrogenase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:734073	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8836559	Ugdh	UDP-glucose 6-dehydrogenase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:734073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8836559	Ugdh	UDP-glucose 6-dehydrogenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8836559	Ugdh	UDP-glucose 6-dehydrogenase	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:734073	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17114358
8836559	Ugdh	UDP-glucose 6-dehydrogenase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8836594	Rab9b	RAB9B, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8836594	Rab9b	RAB9B, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8836600	Rfc4	replication factor C subunit 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8836600	Rfc4	replication factor C subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1320871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8836600	Rfc4	replication factor C subunit 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8836600	Rfc4	replication factor C subunit 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1320871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8836600	Rfc4	replication factor C subunit 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8836600	Rfc4	replication factor C subunit 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1320871	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8836600	Rfc4	replication factor C subunit 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8836600	Rfc4	replication factor C subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836600	Rfc4	replication factor C subunit 4	gene	DOID:9003566	Mesothelioma		ISO	RGD:1320871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8836600	Rfc4	replication factor C subunit 4	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1320871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8836600	Rfc4	replication factor C subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8836600	Rfc4	replication factor C subunit 4	gene	DOID:9009267	MORIMOTO-RYU-MALICDAN NEUROMUSCULAR SYNDROME		ISO	RGD:1320871	D	RGD:7240710	20250101	OMIM			
8836600	Rfc4	replication factor C subunit 4	gene	DOID:9009267	MORIMOTO-RYU-MALICDAN NEUROMUSCULAR SYNDROME		ISO	RGD:1320871	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MORIMOTO-RYU-MALICDAN NEUROMUSCULAR SYNDROME | ClinVar Annotator: match by term: Morimoto-Ryu-Malicdan neuromuscular syndrome	PMID:25741868
8836600	Rfc4	replication factor C subunit 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8836628	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:0050925	small intestine carcinoid neuroendocrine tumor		ISO	RGD:1307599	D	RGD:9068941	20250724	RGD		mRNA:increased expression:small intestine tumor	PMID:29154080|REF_RGD_ID:617256274
8836628	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8836628	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1604617	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
8836628	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:1380	endometrial cancer		ISO	RGD:1332254	D	RGD:9068941	20220825	MouseDO		OMIM:608089	
8836628	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8836628	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:289	endometriosis		ISO	RGD:1604617	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
8836628	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604617	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8836628	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:8398	osteoarthritis		ISO	RGD:1332254	D	RGD:9068941	20220825	MouseDO		OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401	
8836628	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1307599	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; mRNA:increased expression:kidney:	PMID:10749885|REF_RGD_ID:9685546
8836628	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1332254	D	RGD:9068941	20200609	RGD		protein:increased expression:heart:	PMID:19204184|REF_RGD_ID:9685562
8836628	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:1307599	D	RGD:9068941	20200609	RGD			PMID:19204184|REF_RGD_ID:9685562
8836628	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:9006618	Liver Metastasis		ISO	RGD:1307599	D	RGD:9068941	20250724	RGD		mRNA:increased expression:liver tumor	PMID:29154080|REF_RGD_ID:617256274
8836628	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1604617	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28688920
8836628	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
8836636	Acad8	acyl-CoA dehydrogenase family member 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8836636	Acad8	acyl-CoA dehydrogenase family member 8	gene	DOID:1059	intellectual disability		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28492532|PMID:32778825
8836636	Acad8	acyl-CoA dehydrogenase family member 8	gene	DOID:11830	myopia		ISO	RGD:1344764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:17304052|PMID:25333069|PMID:25689098|PMID:25741868|PMID:28492532
8836636	Acad8	acyl-CoA dehydrogenase family member 8	gene	DOID:12849	autistic disorder		ISO	RGD:1344764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:16857760|PMID:17304052|PMID:24635911|PMID:25741868|PMID:28492532|PMID:32778825|PMID:33432785
8836636	Acad8	acyl-CoA dehydrogenase family member 8	gene	DOID:1826	epilepsy		ISO	RGD:1344764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16857760|PMID:17304052|PMID:24635911|PMID:25741868|PMID:28492532|PMID:32778825|PMID:33432785
8836636	Acad8	acyl-CoA dehydrogenase family member 8	gene	DOID:1909	melanoma		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8836636	Acad8	acyl-CoA dehydrogenase family member 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8836636	Acad8	acyl-CoA dehydrogenase family member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836636	Acad8	acyl-CoA dehydrogenase family member 8	gene	DOID:630	genetic disease		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16857760|PMID:25741868|PMID:28492532|PMID:30612563|PMID:32778825|PMID:34544473|PMID:34869113|PMID:35154245
8836636	Acad8	acyl-CoA dehydrogenase family member 8	gene	DOID:630	genetic disease		ISO	RGD:1344764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16857760|PMID:17304052|PMID:24635911|PMID:25741868|PMID:28492532|PMID:30612563|PMID:32778825|PMID:33432785|PMID:34544473|PMID:34869113|PMID:35154245
8836636	Acad8	acyl-CoA dehydrogenase family member 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
8836636	Acad8	acyl-CoA dehydrogenase family member 8	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1344764	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8836636	Acad8	acyl-CoA dehydrogenase family member 8	gene	DOID:9000918	Disease Progression		ISO	RGD:1344764	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
8836636	Acad8	acyl-CoA dehydrogenase family member 8	gene	DOID:9004345	Isobutyryl-CoA Dehydrogenase Deficiency		ISO	RGD:1344764	D	RGD:7240710	20180130	OMIM			
8836636	Acad8	acyl-CoA dehydrogenase family member 8	gene	DOID:9004345	Isobutyryl-CoA Dehydrogenase Deficiency		ISO	RGD:1344764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ACAD8 DEFICIENCY | ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase | ClinVar Annotator: match by term: ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	PMID:12359132|PMID:15505379|PMID:16199547|PMID:16857760|PMID:17304052|PMID:17576681|PMID:17924841|PMID:24635911|PMID:25333069|PMID:25689098|PMID:25741868|PMID:28053874|PMID:28492532|PMID:30253142|PMID:30626930|PMID:31813752|PMID:32778825|PMID:33432785|PMID:34544473|PMID:35154245|PMID:36662638|PMID:38784038|PMID:9536098
8836636	Acad8	acyl-CoA dehydrogenase family member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8836636	Acad8	acyl-CoA dehydrogenase family member 8	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:32778825
8836636	Acad8	acyl-CoA dehydrogenase family member 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:0060260	ptosis		ISO	RGD:1351630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:0060307	autosomal dominant intellectual developmental disorder		ISO	RGD:1351630	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability	PMID:25741868
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:0080237	autosomal dominant intellectual developmental disorder 46		ISO	RGD:1351630	D	RGD:7240710	20190315	OMIM			
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:0080237	autosomal dominant intellectual developmental disorder 46		ISO	RGD:1351630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 46 | ClinVar Annotator: match by term: KCNQ5-related condition | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46	PMID:25741868|PMID:28492532|PMID:28669405
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1351630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:10283	prostate cancer		ISO	RGD:1351630	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:28492532
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:10283	prostate cancer		ISO	RGD:1351630	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	PMID:28492532
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:1059	intellectual disability		ISO	RGD:1351630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868|PMID:28492532|PMID:28669405
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:1115	sarcoma		ISO	RGD:1351630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:11830	myopia		ISO	RGD:1351630	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23396134
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:12849	autistic disorder		ISO	RGD:1351630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:1324	lung cancer		ISO	RGD:1351630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:1596	depressive disorder		ISO	RGD:1351630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:1826	epilepsy		ISO	RGD:1351630	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:28492532
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:1826	epilepsy		ISO	RGD:1351630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:1827	generalized epilepsy		ISO	RGD:1351630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:18004376|PMID:25741868|PMID:27602407|PMID:28669405|PMID:35583973|PMID:36672771
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:1909	melanoma		ISO	RGD:1351630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1351630	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28189443
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:4702	mongolian spot		ISO	RGD:1351630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	PMID:25741868
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:630	genetic disease		ISO	RGD:1351630	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25741879|PMID:28492532|PMID:28669405|PMID:35377796
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1351630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:9004538	Hearing Loss		ISO	RGD:1351630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1351630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1351630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:9007661	Dwarfism		ISO	RGD:1351630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
8836666	Kcnq5	potassium voltage-gated channel subfamily Q member 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8836685	CUNH5orf34	chromosome unknown C5orf34 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8836685	CUNH5orf34	chromosome unknown C5orf34 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1601916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8836685	CUNH5orf34	chromosome unknown C5orf34 homolog	gene	DOID:3275	thymoma		ISO	RGD:1601916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8836685	CUNH5orf34	chromosome unknown C5orf34 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1601916	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8836685	CUNH5orf34	chromosome unknown C5orf34 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8836685	CUNH5orf34	chromosome unknown C5orf34 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8836714	Ak4	adenylate kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8836714	Ak4	adenylate kinase 4	gene	DOID:0080600	COVID-19		ISO	RGD:1606591	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8836714	Ak4	adenylate kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8836714	Ak4	adenylate kinase 4	gene	DOID:12556	acute kidney tubular necrosis		ISO	RGD:2078	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney (rat)	PMID:21152904|REF_RGD_ID:5134352
8836714	Ak4	adenylate kinase 4	gene	DOID:1909	melanoma		ISO	RGD:1606591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8836714	Ak4	adenylate kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1606591	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8836714	Ak4	adenylate kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836714	Ak4	adenylate kinase 4	gene	DOID:8398	osteoarthritis		ISO	RGD:1606591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8836714	Ak4	adenylate kinase 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:2078	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:16538043|REF_RGD_ID:2301096
8836714	Ak4	adenylate kinase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8836725	Bcan	brevican	gene	DOID:10584	retinitis pigmentosa	severity	ISO	RGD:736888	D	RGD:9068941	20200609	RGD			PMID:29150673|REF_RGD_ID:14392802
8836725	Bcan	brevican	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10227	D	RGD:9068941	20200609	RGD		protein:altered modification:brain	PMID:20180882|REF_RGD_ID:14392785
8836725	Bcan	brevican	gene	DOID:3070	high grade glioma		ISO	RGD:2194	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:12799382|REF_RGD_ID:14392782
8836725	Bcan	brevican	gene	DOID:3070	high grade glioma		ISO	RGD:736888	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:16061654|REF_RGD_ID:14392797
8836725	Bcan	brevican	gene	DOID:3070	high grade glioma	severity	ISO	RGD:2194	D	RGD:9068941	20200609	RGD			PMID:11585735|REF_RGD_ID:14392783
8836725	Bcan	brevican	gene	DOID:3070	high grade glioma	severity	ISO	RGD:736888	D	RGD:9068941	20200609	RGD			PMID:23253190|REF_RGD_ID:14392804
8836725	Bcan	brevican	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:2194	D	RGD:9068941	20200609	RGD			PMID:15869933|REF_RGD_ID:9590118
8836725	Bcan	brevican	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2194	D	RGD:9068941	20200609	RGD			PMID:15016081|REF_RGD_ID:9589823
8836725	Bcan	brevican	gene	DOID:9000115	Posthemorrhagic Hydrocephalus	treatment	ISO	RGD:736888	D	RGD:9068941	20200609	RGD			PMID:22186713|REF_RGD_ID:6483013
8836725	Bcan	brevican	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:2194	D	RGD:9068941	20200609	RGD			PMID:15817274|REF_RGD_ID:14392799
8836725	Bcan	brevican	gene	DOID:9008941	Muscle Hypertonia		ISO	RGD:12122555	D	RGD:9068941	20250116	OMIA		Episodic falling, BCAN-related	PMID:15971896|PMID:21821125|PMID:22253609|PMID:25441627|PMID:30650096|PMID:36086931|PMID:3680644|PMID:3716135|PMID:38003185|PMID:39119350|PMID:6868317
8836750	Sh3bp1	SH3 domain binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8836750	Sh3bp1	SH3 domain binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1314801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8836750	Sh3bp1	SH3 domain binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1314801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8836750	Sh3bp1	SH3 domain binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314801	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8836750	Sh3bp1	SH3 domain binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836777	Nacad	NAC alpha domain containing	gene	DOID:1115	sarcoma		ISO	RGD:1625090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8836777	Nacad	NAC alpha domain containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1625090	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8836777	Nacad	NAC alpha domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1625090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836777	Nacad	NAC alpha domain containing	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1625090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8836799	Pdzd9	PDZ domain containing 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8836808	Znf827	zinc finger protein 827	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8836808	Znf827	zinc finger protein 827	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606144	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8836808	Znf827	zinc finger protein 827	gene	DOID:10534	stomach cancer		ISO	RGD:1606144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8836808	Znf827	zinc finger protein 827	gene	DOID:1324	lung cancer		ISO	RGD:1606144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8836808	Znf827	zinc finger protein 827	gene	DOID:1909	melanoma		ISO	RGD:1606144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8836808	Znf827	zinc finger protein 827	gene	DOID:3275	thymoma		ISO	RGD:1606144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8836808	Znf827	zinc finger protein 827	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8836808	Znf827	zinc finger protein 827	gene	DOID:5041	esophageal cancer		ISO	RGD:1606144	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8836808	Znf827	zinc finger protein 827	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836808	Znf827	zinc finger protein 827	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8836832	Fgb	fibrinogen beta chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8836832	Fgb	fibrinogen beta chain	gene	DOID:0051061	stroke	susceptibility	ISO	RGD:734251	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:1038G>A (rs1800791) (human)	PMID:18278190|REF_RGD_ID:5688760
8836832	Fgb	fibrinogen beta chain	gene	DOID:0051061	stroke	susceptibility	ISO	RGD:734251	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :-455G>A(human)	PMID:24107890|REF_RGD_ID:10450767
8836832	Fgb	fibrinogen beta chain	gene	DOID:0060669	cerebral cavernous malformation		ISO	RGD:734251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral cavernous malformation	PMID:25741868
8836832	Fgb	fibrinogen beta chain	gene	DOID:0060903	thrombosis	susceptibility	ISO	RGD:734251	D	RGD:9068941	20200609	RGD		associated with Lupus Nephritis;;DNA:polymorphism: :-455G>A (human)	PMID:17469143|REF_RGD_ID:7175506
8836832	Fgb	fibrinogen beta chain	gene	DOID:11476	osteoporosis		ISO	RGD:734251	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
8836832	Fgb	fibrinogen beta chain	gene	DOID:1287	cardiovascular system disease	disease_progression	ISO	RGD:734251	D	RGD:9068941	20200609	RGD			PMID:18278190|REF_RGD_ID:5688760
8836832	Fgb	fibrinogen beta chain	gene	DOID:14330	Parkinson's disease		ISO	RGD:734251	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23233872
8836832	Fgb	fibrinogen beta chain	gene	DOID:2213	hemorrhagic disease		ISO	RGD:734251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:25741868|PMID:31064749
8836832	Fgb	fibrinogen beta chain	gene	DOID:2236	congenital afibrinogenemia		ISO	RGD:734251	D	RGD:7240710	20180130	OMIM			
8836832	Fgb	fibrinogen beta chain	gene	DOID:2236	congenital afibrinogenemia		ISO	RGD:734251	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: FGB-related condition | ClinVar Annotator: match by term: Hypofibrinogenemia	PMID:10666208|PMID:10688828|PMID:11468164|PMID:12161363|PMID:12393540|PMID:12573244|PMID:15070683|PMID:1565641|PMID:15795540|PMID:19420351|PMID:20978265|PMID:21713329|PMID:22273812|PMID:22353194|PMID:22836883|PMID:23061815|PMID:24033266|PMID:24679643|PMID:25320241|PMID:25592583|PMID:25741868|PMID:26105150|PMID:26561523|PMID:27164460|PMID:28492532|PMID:30349899|PMID:31064749|PMID:31314131|PMID:3194892|PMID:32935436|PMID:33477601|PMID:34355501
8836832	Fgb	fibrinogen beta chain	gene	DOID:2236	congenital afibrinogenemia		ISO	RGD:734251	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: FGB-related condition | ClinVar Annotator: match by term: Factor I deficiency | ClinVar Annotator: match by term: Hypofibrinogenemia	PMID:10666208|PMID:10688828|PMID:11468164|PMID:12161363|PMID:12393540|PMID:12573244|PMID:12893758|PMID:15070683|PMID:1565641|PMID:15795540|PMID:16403286|PMID:19229055|PMID:19335753|PMID:19420351|PMID:20978265|PMID:21713329|PMID:21959590|PMID:22273812|PMID:22353194|PMID:22836883|PMID:23061815|PMID:24033266|PMID:24679643|PMID:25320241|PMID:25427968|PMID:25592583|PMID:25741868|PMID:26105150|PMID:26561523|PMID:27164460|PMID:28492532|PMID:30345592|PMID:30349899|PMID:31064749|PMID:31119896|PMID:31314131|PMID:3194892|PMID:32871307|PMID:32935436|PMID:33477601|PMID:34355501|PMID:34455742
8836832	Fgb	fibrinogen beta chain	gene	DOID:2236	congenital afibrinogenemia		ISO	RGD:734251	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AFIBRINOGENEMIA, CONGENITAL | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: FGB-related condition | ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 2 | ClinVar Annotator: match by term: FIBRINOGEN CHRISTCHURCH 2 | ClinVar Annotator: match by term: FIBRINOGEN NIJMEGEN | ClinVar Annotator: match by term: Hypofibrinogenemia | ClinVar Annotator: match by term: Hypofibrinogenemia, congenital | ClinVar Annotator: match by term: congenital fibrinogen deficiency	PMID:10688828|PMID:10695765|PMID:12161363|PMID:12573244|PMID:12893758|PMID:15070683|PMID:1565641|PMID:15670063|PMID:15795540|PMID:16403286|PMID:19229055|PMID:19335753|PMID:19420351|PMID:20978265|PMID:21713329|PMID:21959590|PMID:22273812|PMID:22384068|PMID:22836883|PMID:23852822|PMID:24033266|PMID:25427968|PMID:25741868|PMID:26105150|PMID:26561523|PMID:27812779|PMID:28492532|PMID:30345592|PMID:30349899|PMID:31064749|PMID:31119896|PMID:31314131|PMID:32871307|PMID:32935436|PMID:33477601|PMID:34355501|PMID:34455742|PMID:37762110|PMID:37832789|PMID:39805289|PMID:9423799
8836832	Fgb	fibrinogen beta chain	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:734252	D	RGD:9068941	20200625	RGD		protein:increased expression:lung (mouse)	PMID:23919993|REF_RGD_ID:30310231
8836832	Fgb	fibrinogen beta chain	gene	DOID:3393	coronary artery disease		ISO	RGD:734251	D	RGD:9068941	20200609	RGD			PMID:8565160|REF_RGD_ID:1580382
8836832	Fgb	fibrinogen beta chain	gene	DOID:3407	carotid artery disease		ISO	RGD:734251	D	RGD:9068941	20200609	RGD			PMID:9514419|REF_RGD_ID:1580383
8836832	Fgb	fibrinogen beta chain	gene	DOID:4989	pancreatitis		ISO	RGD:2604	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas, rough endoplasmic reticulum	PMID:19954227|REF_RGD_ID:5688770
8836832	Fgb	fibrinogen beta chain	gene	DOID:5844	myocardial infarction		ISO	RGD:734251	D	RGD:9068941	20200609	RGD			PMID:9437197|REF_RGD_ID:1580381
8836832	Fgb	fibrinogen beta chain	gene	DOID:630	genetic disease		ISO	RGD:734251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8836832	Fgb	fibrinogen beta chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8836832	Fgb	fibrinogen beta chain	gene	DOID:783	end stage renal disease	treatment	ISO	RGD:734251	D	RGD:9068941	20200609	RGD		associated with hypertension;DNA:polymorphism: :-455G>A (human)	PMID:19352213|REF_RGD_ID:7175505
8836832	Fgb	fibrinogen beta chain	gene	DOID:9003464	Congenital Dysfibrinogenemia		ISO	RGD:734251	D	RGD:7240710	20180130	OMIM			
8836832	Fgb	fibrinogen beta chain	gene	DOID:9003464	Congenital Dysfibrinogenemia		ISO	RGD:734251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysfibrinogenemia | ClinVar Annotator: match by term: Dysfibrinogenemia, congenital | ClinVar Annotator: match by term: hypodysfibrinogenemia	PMID:22836883|PMID:25741868|PMID:30349899|PMID:34355501
8836832	Fgb	fibrinogen beta chain	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:734251	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Deep venous thrombosis	PMID:12573244|PMID:15795540|PMID:25741868|PMID:28492532|PMID:31064749
8836832	Fgb	fibrinogen beta chain	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:2604	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney	PMID:21685370|REF_RGD_ID:7175292
8836832	Fgb	fibrinogen beta chain	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:734251	D	RGD:9068941	20200609	RGD			PMID:21685370|REF_RGD_ID:7175292
8836832	Fgb	fibrinogen beta chain	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:734251	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:7974333|REF_RGD_ID:2312416
8836832	Fgb	fibrinogen beta chain	gene	DOID:9477	pulmonary embolism		ISO	RGD:2604	D	RGD:9068941	20200609	RGD		protein:increased expression:blood microparticle	PMID:22014850|REF_RGD_ID:5688769
8836856	Rergl	RERG like	gene	DOID:10283	prostate cancer		ISO	RGD:1602860	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8836856	Rergl	RERG like	gene	DOID:10283	prostate cancer		ISO	RGD:1602860	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8836856	Rergl	RERG like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8836856	Rergl	RERG like	gene	DOID:3275	thymoma		ISO	RGD:1602860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8836856	Rergl	RERG like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836856	Rergl	RERG like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8836856	Rergl	RERG like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8836874	Heca	HECA ribonucleoprotein granule regulator	gene	DOID:1324	lung cancer		ISO	RGD:1312483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8836892	Kank3	KN motif and ankyrin repeat domains 3	gene	DOID:0080600	COVID-19		ISO	RGD:1602171	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8836892	Kank3	KN motif and ankyrin repeat domains 3	gene	DOID:1115	sarcoma		ISO	RGD:1602171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8836892	Kank3	KN motif and ankyrin repeat domains 3	gene	DOID:4362	cervical cancer		ISO	RGD:1602171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8836892	Kank3	KN motif and ankyrin repeat domains 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1602171	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8836892	Kank3	KN motif and ankyrin repeat domains 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8836933	Dlgap2	DLG associated protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8836933	Dlgap2	DLG associated protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1345358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
8836933	Dlgap2	DLG associated protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8836933	Dlgap2	DLG associated protein 2	gene	DOID:3275	thymoma		ISO	RGD:1345358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8836933	Dlgap2	DLG associated protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8836933	Dlgap2	DLG associated protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8836933	Dlgap2	DLG associated protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836933	Dlgap2	DLG associated protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8836933	Dlgap2	DLG associated protein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8836967	Tmem231	transmembrane protein 231	gene	DOID:0050777	Joubert syndrome		ISO	RGD:3008206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:23012439|PMID:23349226|PMID:25741868|PMID:25869670|PMID:26489029|PMID:28492532|PMID:32055034|PMID:32386258|PMID:34354814
8836967	Tmem231	transmembrane protein 231	gene	DOID:0060340	ciliopathy		ISO	RGD:3008206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ciliopathy	PMID:16199547|PMID:23012439|PMID:23349226|PMID:25741868|PMID:28492532
8836967	Tmem231	transmembrane protein 231	gene	DOID:0060373	orofaciodigital syndrome III		ISO	RGD:3008206	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Orofaciodigital syndrome III	PMID:25741868|PMID:25869670|PMID:26489029|PMID:28492532|PMID:34354814
8836967	Tmem231	transmembrane protein 231	gene	DOID:0061296	Meckel syndrome 11		ISO	RGD:3008206	D	RGD:7240710	20180130	OMIM			
8836967	Tmem231	transmembrane protein 231	gene	DOID:0061296	Meckel syndrome 11		ISO	RGD:3008206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MECKEL SYNDROME, TYPE 11 | ClinVar Annotator: match by term: Meckel syndrome 11 | ClinVar Annotator: match by term: Meckel syndrome, type 11 | ClinVar Annotator: match by term: TMEM231-related condition	PMID:16199547|PMID:17576681|PMID:23012439|PMID:23169490|PMID:23349226|PMID:25741868|PMID:25869670|PMID:26123494|PMID:26489029|PMID:27711071|PMID:28492532|PMID:30143558|PMID:32055034|PMID:32386258|PMID:32552793|PMID:33057194|PMID:34354814|PMID:35982159|PMID:39669259|PMID:40725402|PMID:9536098
8836967	Tmem231	transmembrane protein 231	gene	DOID:0110989	Joubert syndrome 20		ISO	RGD:3008206	D	RGD:7240710	20180130	OMIM			
8836967	Tmem231	transmembrane protein 231	gene	DOID:0110989	Joubert syndrome 20		ISO	RGD:3008206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 20 | ClinVar Annotator: match by term: Joubert syndrome 20	PMID:16199547|PMID:17576681|PMID:23012439|PMID:23349226|PMID:25640679|PMID:25741868|PMID:25869670|PMID:26477546|PMID:26489029|PMID:26982032|PMID:27449316|PMID:27894351|PMID:28289185|PMID:28492532|PMID:31054281|PMID:32386258|PMID:33057194|PMID:34354814|PMID:35982159|PMID:9536098
8836967	Tmem231	transmembrane protein 231	gene	DOID:1059	intellectual disability		ISO	RGD:3008206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8836967	Tmem231	transmembrane protein 231	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3008206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8836967	Tmem231	transmembrane protein 231	gene	DOID:630	genetic disease		ISO	RGD:3008206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25869670|PMID:26489029|PMID:28492532|PMID:34354814
8836967	Tmem231	transmembrane protein 231	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:3008206	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8836967	Tmem231	transmembrane protein 231	gene	DOID:9007661	Dwarfism		ISO	RGD:3008206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
8836967	Tmem231	transmembrane protein 231	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:3008206	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
8836978	Klhl32	kelch like family member 32	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8836978	Klhl32	kelch like family member 32	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8836978	Klhl32	kelch like family member 32	gene	DOID:1909	melanoma		ISO	RGD:1321228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8836978	Klhl32	kelch like family member 32	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8837022	Cdk2ap1	cyclin dependent kinase 2 associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8837022	Cdk2ap1	cyclin dependent kinase 2 associated protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1318567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8837022	Cdk2ap1	cyclin dependent kinase 2 associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837022	Cdk2ap1	cyclin dependent kinase 2 associated protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1318567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8837022	Cdk2ap1	cyclin dependent kinase 2 associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837022	Cdk2ap1	cyclin dependent kinase 2 associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8837033	Stoml1	stomatin like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8837033	Stoml1	stomatin like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837033	Stoml1	stomatin like 1	gene	DOID:3275	thymoma		ISO	RGD:1347763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8837033	Stoml1	stomatin like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8837033	Stoml1	stomatin like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837033	Stoml1	stomatin like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837033	Stoml1	stomatin like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8837033	Stoml1	stomatin like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8837055	Ublcp1	ubiquitin like domain containing CTD phosphatase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8837055	Ublcp1	ubiquitin like domain containing CTD phosphatase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837055	Ublcp1	ubiquitin like domain containing CTD phosphatase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8837055	Ublcp1	ubiquitin like domain containing CTD phosphatase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8837055	Ublcp1	ubiquitin like domain containing CTD phosphatase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605293	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8837055	Ublcp1	ubiquitin like domain containing CTD phosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837055	Ublcp1	ubiquitin like domain containing CTD phosphatase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8837055	Ublcp1	ubiquitin like domain containing CTD phosphatase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837055	Ublcp1	ubiquitin like domain containing CTD phosphatase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1605293	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
8837074	Ei24	EI24 autophagy associated transmembrane protein	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1320441	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8837098	Gpn3	GPN-loop GTPase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8837098	Gpn3	GPN-loop GTPase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837098	Gpn3	GPN-loop GTPase 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8837098	Gpn3	GPN-loop GTPase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837114	Nkx2-2	NK2 homeobox 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837114	Nkx2-2	NK2 homeobox 2	gene	DOID:3213	demyelinating disease		ISO	RGD:1308443	D	RGD:9068941	20200609	RGD		protein:increased expression:oligodendrocyte	PMID:15048854|REF_RGD_ID:2306244
8837114	Nkx2-2	NK2 homeobox 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8837114	Nkx2-2	NK2 homeobox 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837114	Nkx2-2	NK2 homeobox 2	gene	DOID:630	genetic disease		ISO	RGD:1318213	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:0050544	hypermethioninemia		ISO	RGD:731745	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:26974671
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:731745	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29127188
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:0111039	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase		ISO	RGD:731745	D	RGD:7240710	20180130	OMIM			
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:0111039	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase		ISO	RGD:731745	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AHCY-related disorder | ClinVar Annotator: match by term: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY | ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	PMID:15024124|PMID:16736098|PMID:17576681|PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:26095522|PMID:28492532|PMID:28647132|PMID:29205322|PMID:30121674|PMID:9536098
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:10534	stomach cancer		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:1059	intellectual disability		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:10763	hypertension		ISO	RGD:736014	D	RGD:9068941	20200609	RGD		associated with hyperhomocysteinemia	PMID:16815886|REF_RGD_ID:1601153
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:1283	enterocele		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:12849	autistic disorder		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:13250	diarrhea		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:25741868
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:13620	patent foramen ovale		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:1697	ichthyosis		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:1826	epilepsy		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:731745	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:423	myopathy		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:630	genetic disease		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:767	muscular atrophy		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:7693	abdominal aortic aneurysm	susceptibility	ISO	RGD:731745	D	RGD:9068941	20230831	RGD		DNA:SNPs,haplotypes:intron: (rs819146, rs7271501) (human)	PMID:18635682|REF_RGD_ID:329853746
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:8455	pyridoxine deficiency anemia		ISO	RGD:69260	D	RGD:9068941	20200609	RGD			PMID:11575573|REF_RGD_ID:1598897
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:893	Wilson disease		ISO	RGD:731745	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23519153
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:731745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rhabdomyolysis	PMID:16736098|PMID:28492532|PMID:28647132|PMID:28779239|PMID:33072517
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:9001510	Funnel Chest		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:69260	D	RGD:9068941	20200609	RGD			PMID:11123369|REF_RGD_ID:1598898
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:9002554	Tachycardia		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:9002669	Hypoxia		ISO	RGD:731745	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19579223
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:9002969	Nevus		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus	PMID:25741868
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:9003703	Coxa Valga		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coxa valga	PMID:25741868
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:9005532	Muscle Weakness		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:9006205	Animal Disease Models		ISO	RGD:731745	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:9006924	Cardiogenic Shock		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiogenic shock	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:9007001	Bradycardia		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:731745	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15024124
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:69260	D	RGD:9068941	20200609	RGD			PMID:12208805|REF_RGD_ID:1598896
8837124	Ahcy	adenosylhomocysteinase	gene	DOID:936	brain disease		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
8837143	Raly	RALY heterogeneous nuclear ribonucleoprotein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837143	Raly	RALY heterogeneous nuclear ribonucleoprotein	gene	DOID:10534	stomach cancer		ISO	RGD:1316295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8837143	Raly	RALY heterogeneous nuclear ribonucleoprotein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8837143	Raly	RALY heterogeneous nuclear ribonucleoprotein	gene	DOID:1909	melanoma		ISO	RGD:1316295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8837143	Raly	RALY heterogeneous nuclear ribonucleoprotein	gene	DOID:4362	cervical cancer		ISO	RGD:1316295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8837143	Raly	RALY heterogeneous nuclear ribonucleoprotein	gene	DOID:5041	esophageal cancer		ISO	RGD:1316295	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8837143	Raly	RALY heterogeneous nuclear ribonucleoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837143	Raly	RALY heterogeneous nuclear ribonucleoprotein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8837143	Raly	RALY heterogeneous nuclear ribonucleoprotein	gene	DOID:670	amphetamine abuse		ISO	RGD:1316295	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
8837161	Ralgps2	Ral GEF with PH domain and SH3 binding motif 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837161	Ralgps2	Ral GEF with PH domain and SH3 binding motif 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8837161	Ralgps2	Ral GEF with PH domain and SH3 binding motif 2	gene	DOID:1115	sarcoma		ISO	RGD:1323046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8837161	Ralgps2	Ral GEF with PH domain and SH3 binding motif 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8837161	Ralgps2	Ral GEF with PH domain and SH3 binding motif 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8837161	Ralgps2	Ral GEF with PH domain and SH3 binding motif 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837161	Ralgps2	Ral GEF with PH domain and SH3 binding motif 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8837161	Ralgps2	Ral GEF with PH domain and SH3 binding motif 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837161	Ralgps2	Ral GEF with PH domain and SH3 binding motif 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8837161	Ralgps2	Ral GEF with PH domain and SH3 binding motif 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8837185	Gemin4	gem nuclear organelle associated protein 4	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1344278	D	RGD:9068941	20231116	RGD		DNA:SNP:Promoter:C>T(rs910924)(human)	PMID:25495208|REF_RGD_ID:401900681
8837185	Gemin4	gem nuclear organelle associated protein 4	gene	DOID:0081263	neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		ISO	RGD:1344278	D	RGD:7240710	20190918	OMIM			
8837185	Gemin4	gem nuclear organelle associated protein 4	gene	DOID:0081263	neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		ISO	RGD:1344278	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GEMIN4-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	PMID:25741868|PMID:28492532|PMID:29371219|PMID:36553572
8837185	Gemin4	gem nuclear organelle associated protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837185	Gemin4	gem nuclear organelle associated protein 4	gene	DOID:83	cataract		ISO	RGD:1344278	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital cataract	PMID:25741868
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:0050744	anaplastic large cell lymphoma		ISO	RGD:737226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10908157|PMID:17261581
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:737226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15322151
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:10283	prostate cancer		ISO	RGD:737226	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:10283	prostate cancer		ISO	RGD:737226	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:1115	sarcoma		ISO	RGD:737226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:12361	Graves' disease		ISO	RGD:737226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16372246
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:737226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12031769
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:1790	malignant mesothelioma		ISO	RGD:737226	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:23056237
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:1909	melanoma		ISO	RGD:737226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:737226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29984229
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:3087	gingivitis		ISO	RGD:737226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9379333
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:3308	embryonal carcinoma		ISO	RGD:737226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9111512
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:737226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8811349
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:820	myocarditis		ISO	RGD:737226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12031769
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:737226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10908157|PMID:12358914|PMID:12453859|PMID:16879607|PMID:17261581|PMID:7621881|PMID:8701986
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:9000571	AIDS-Related Opportunistic Infections		ISO	RGD:737226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9379333
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:9001415	Mycobacterium Infections		ISO	RGD:737226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15316035
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:9002137	Infectious Ectromelia		ISO	RGD:737226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12235215
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:9002884	Emphysema		ISO	RGD:737226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:29984229
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:737226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:9007355	Hashimoto Disease		ISO	RGD:737226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16372246
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:9008217	Hemorrhage		ISO	RGD:737226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:29984229
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:934	viral infectious disease		ISO	RGD:737226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12031769|PMID:9826579
8837191	Tnfrsf8	TNF receptor superfamily member 8	gene	DOID:9351	diabetes mellitus		ISO	RGD:737227	D	RGD:9068941	20200609	RGD			PMID:10192335|REF_RGD_ID:2312735
8837215	Csn3	casein kappa	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8837215	Csn3	casein kappa	gene	DOID:305	carcinoma		ISO	RGD:1349233	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8837215	Csn3	casein kappa	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1349233	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8837215	Csn3	casein kappa	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1349233	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8837215	Csn3	casein kappa	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:61990	D	RGD:9068941	20220324	RGD		mRNA:increased expression:mammary gland (rat)	PMID:16316942|REF_RGD_ID:2306898
8837231	Rcan3	RCAN family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837231	Rcan3	RCAN family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1323485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8837231	Rcan3	RCAN family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8837231	Rcan3	RCAN family member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8837231	Rcan3	RCAN family member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1323485	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8837231	Rcan3	RCAN family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8837231	Rcan3	RCAN family member 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8837231	Rcan3	RCAN family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837252	Dnai7	dynein axonemal intermediate chain 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837252	Dnai7	dynein axonemal intermediate chain 7	gene	DOID:1324	lung cancer	ameliorates	ISO	RGD:1617228	D	RGD:9068941	20220701	RGD		DNA:missense mutation:CDS:p.N60S (mouse)	PMID:14583591|REF_RGD_ID:152998907
8837252	Dnai7	dynein axonemal intermediate chain 7	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:1617228	D	RGD:9068941	20220701	RGD			PMID:24860162|REF_RGD_ID:152998908
8837252	Dnai7	dynein axonemal intermediate chain 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1322554	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8837252	Dnai7	dynein axonemal intermediate chain 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837252	Dnai7	dynein axonemal intermediate chain 7	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1322554	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:15064703
8837252	Dnai7	dynein axonemal intermediate chain 7	gene	DOID:9005172	Lung Neoplasms	susceptibility	ISO	RGD:1617228	D	RGD:9068941	20220630	RGD			PMID:16862160|REF_RGD_ID:11340955
8837252	Dnai7	dynein axonemal intermediate chain 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8837252	Dnai7	dynein axonemal intermediate chain 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8837272	Hoxc8	homeobox C8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8837278	Cplane2	ciliogenesis and planar polarity effector complex subunit 2	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1618278	D	RGD:9068941	20220825	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
8837278	Cplane2	ciliogenesis and planar polarity effector complex subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8837278	Cplane2	ciliogenesis and planar polarity effector complex subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1603381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8837278	Cplane2	ciliogenesis and planar polarity effector complex subunit 2	gene	DOID:14679	VACTERL association		ISO	RGD:1618278	D	RGD:9068941	20220825	MouseDO		OMIM:192350 | OMIM:276950	
8837278	Cplane2	ciliogenesis and planar polarity effector complex subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8837278	Cplane2	ciliogenesis and planar polarity effector complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837278	Cplane2	ciliogenesis and planar polarity effector complex subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8837302	Atg9b	autophagy related 9B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8837302	Atg9b	autophagy related 9B	gene	DOID:1115	sarcoma		ISO	RGD:1352218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8837302	Atg9b	autophagy related 9B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8837302	Atg9b	autophagy related 9B	gene	DOID:4362	cervical cancer		ISO	RGD:1352218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8837302	Atg9b	autophagy related 9B	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1352218	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
8837302	Atg9b	autophagy related 9B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837302	Atg9b	autophagy related 9B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8837302	Atg9b	autophagy related 9B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1352218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8837302	Atg9b	autophagy related 9B	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8837302	Atg9b	autophagy related 9B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837302	Atg9b	autophagy related 9B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8837322	Gsg1	germ cell associated 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837322	Gsg1	germ cell associated 1	gene	DOID:1909	melanoma		ISO	RGD:1315222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8837322	Gsg1	germ cell associated 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8837322	Gsg1	germ cell associated 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315222	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8837334	Chac1	ChaC glutathione specific gamma-glutamylcyclotransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8837334	Chac1	ChaC glutathione specific gamma-glutamylcyclotransferase 1	gene	DOID:10283	prostate cancer		ISO	RGD:1604291	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8837334	Chac1	ChaC glutathione specific gamma-glutamylcyclotransferase 1	gene	DOID:10283	prostate cancer		ISO	RGD:1604291	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8837334	Chac1	ChaC glutathione specific gamma-glutamylcyclotransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1604291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8837334	Chac1	ChaC glutathione specific gamma-glutamylcyclotransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604291	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8837334	Chac1	ChaC glutathione specific gamma-glutamylcyclotransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8837354	Hpse	heparanase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837354	Hpse	heparanase	gene	DOID:10534	stomach cancer		ISO	RGD:736250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8837354	Hpse	heparanase	gene	DOID:1909	melanoma		ISO	RGD:736250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8837354	Hpse	heparanase	gene	DOID:2527	nephrosis		ISO	RGD:736250	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16899518
8837354	Hpse	heparanase	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:736250	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
8837354	Hpse	heparanase	gene	DOID:4362	cervical cancer		ISO	RGD:736250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8837354	Hpse	heparanase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8837354	Hpse	heparanase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837354	Hpse	heparanase	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:736250	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22240343
8837354	Hpse	heparanase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736250	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15095483|PMID:18458672
8837354	Hpse	heparanase	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:736250	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22240343
8837354	Hpse	heparanase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837354	Hpse	heparanase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736250	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16391819
8837371	Zacn	zinc activated ion channel	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837371	Zacn	zinc activated ion channel	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8837390	Plk4	polo like kinase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8837390	Plk4	polo like kinase 4	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	
8837390	Plk4	polo like kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837390	Plk4	polo like kinase 4	gene	DOID:0060058	lymphoma		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8837390	Plk4	polo like kinase 4	gene	DOID:0080105	microcephaly and chorioretinopathy 1		ISO	RGD:1313392	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
8837390	Plk4	polo like kinase 4	gene	DOID:0080106	microcephaly and chorioretinopathy 2		ISO	RGD:1313392	D	RGD:7240710	20180130	OMIM			
8837390	Plk4	polo like kinase 4	gene	DOID:0080106	microcephaly and chorioretinopathy 2		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 | ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 2 | ClinVar Annotator: match by term: PLK4-related condition	PMID:25320347|PMID:25344692|PMID:25741868|PMID:28492532|PMID:30842647
8837390	Plk4	polo like kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8837390	Plk4	polo like kinase 4	gene	DOID:10907	microcephaly		ISO	RGD:1313392	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
8837390	Plk4	polo like kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8837390	Plk4	polo like kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8837390	Plk4	polo like kinase 4	gene	DOID:219	colon cancer		ISO	RGD:1313392	D	RGD:9068941	20200609	RGD		protein:increased expression:colon	PMID:26439168|REF_RGD_ID:11075990
8837390	Plk4	polo like kinase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8837390	Plk4	polo like kinase 4	gene	DOID:3007	breast ductal carcinoma		ISO	RGD:1313392	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:26439168|REF_RGD_ID:11075990
8837390	Plk4	polo like kinase 4	gene	DOID:3275	thymoma		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8837390	Plk4	polo like kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1313392	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
8837390	Plk4	polo like kinase 4	gene	DOID:5723	optic atrophy		ISO	RGD:1313392	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
8837390	Plk4	polo like kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837390	Plk4	polo like kinase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8837390	Plk4	polo like kinase 4	gene	DOID:630	genetic disease		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8837390	Plk4	polo like kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8837390	Plk4	polo like kinase 4	gene	DOID:684	hepatocellular carcinoma	sexual_dimorphism	ISO	RGD:1313393	D	RGD:9068941	20200609	RGD			PMID:21324136|REF_RGD_ID:27226690
8837390	Plk4	polo like kinase 4	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313392	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
8837390	Plk4	polo like kinase 4	gene	DOID:8947	diabetic retinopathy	treatment	ISO	RGD:1305390	D	RGD:9068941	20231019	RGD			PMID:33416109|REF_RGD_ID:401850543
8837390	Plk4	polo like kinase 4	gene	DOID:9002525	Hereditary Eye Diseases		ISO	RGD:1313392	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25344692
8837390	Plk4	polo like kinase 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8837390	Plk4	polo like kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837390	Plk4	polo like kinase 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1313392	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25344692
8837390	Plk4	polo like kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8837421	Vma12	vacuolar ATPase assembly factor VMA12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837421	Vma12	vacuolar ATPase assembly factor VMA12	gene	DOID:0070268	congenital disorder of glycosylation type IIp		ISO	RGD:1348837	D	RGD:7240710	20190315	OMIM			
8837421	Vma12	vacuolar ATPase assembly factor VMA12	gene	DOID:0070268	congenital disorder of glycosylation type IIp		ISO	RGD:1348837	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CDG IIp | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp | ClinVar Annotator: match by term: TMEM199-CDG | ClinVar Annotator: match by term: TMEM199-related condition	PMID:25741868|PMID:28492532
8837421	Vma12	vacuolar ATPase assembly factor VMA12	gene	DOID:0080561	congenital disorder of glycosylation Ii		ISO	RGD:1348837	D	RGD:8554872	20250812	ClinVar		ClinVar Annotator: match by term: Congenital disorders of Glycosylation type II | ClinVar Annotator: match by term: Congenital disorders of glycosylation type II	PMID:25741868|PMID:26833330|PMID:28492532|PMID:29321044
8837421	Vma12	vacuolar ATPase assembly factor VMA12	gene	DOID:1115	sarcoma		ISO	RGD:1348837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8837421	Vma12	vacuolar ATPase assembly factor VMA12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8837421	Vma12	vacuolar ATPase assembly factor VMA12	gene	DOID:3275	thymoma		ISO	RGD:1348837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8837421	Vma12	vacuolar ATPase assembly factor VMA12	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8837421	Vma12	vacuolar ATPase assembly factor VMA12	gene	DOID:630	genetic disease		ISO	RGD:1348837	D	RGD:8554872	20250812	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8837421	Vma12	vacuolar ATPase assembly factor VMA12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837438	Dbp	D-box binding PAR bZIP transcription factor	gene	DOID:1115	sarcoma		ISO	RGD:733159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8837438	Dbp	D-box binding PAR bZIP transcription factor	gene	DOID:4362	cervical cancer		ISO	RGD:733159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8837438	Dbp	D-box binding PAR bZIP transcription factor	gene	DOID:5041	esophageal cancer		ISO	RGD:733159	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8837438	Dbp	D-box binding PAR bZIP transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837438	Dbp	D-box binding PAR bZIP transcription factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8837438	Dbp	D-box binding PAR bZIP transcription factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837453	Fkbp3	FKBP prolyl isomerase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837453	Fkbp3	FKBP prolyl isomerase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1312751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8837453	Fkbp3	FKBP prolyl isomerase 3	gene	DOID:1115	sarcoma		ISO	RGD:1312751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8837453	Fkbp3	FKBP prolyl isomerase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1312751	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8837453	Fkbp3	FKBP prolyl isomerase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837453	Fkbp3	FKBP prolyl isomerase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837453	Fkbp3	FKBP prolyl isomerase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8837464	Esco2	establishment of sister chromatid cohesion N-acetyltransferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8837464	Esco2	establishment of sister chromatid cohesion N-acetyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837464	Esco2	establishment of sister chromatid cohesion N-acetyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8837464	Esco2	establishment of sister chromatid cohesion N-acetyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:1350541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8837464	Esco2	establishment of sister chromatid cohesion N-acetyltransferase 2	gene	DOID:1324	lung cancer	severity	ISO	RGD:1350541	D	RGD:9068941	20230105	RGD			PMID:33573689|REF_RGD_ID:155791670
8837464	Esco2	establishment of sister chromatid cohesion N-acetyltransferase 2	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1350541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
8837464	Esco2	establishment of sister chromatid cohesion N-acetyltransferase 2	gene	DOID:3275	thymoma		ISO	RGD:1350541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8837464	Esco2	establishment of sister chromatid cohesion N-acetyltransferase 2	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1350541	D	RGD:9068941	20230105	RGD			PMID:33573689|REF_RGD_ID:155791670
8837464	Esco2	establishment of sister chromatid cohesion N-acetyltransferase 2	gene	DOID:5325	Roberts syndrome		ISO	RGD:1350541	D	RGD:7240710	20180130	OMIM			
8837464	Esco2	establishment of sister chromatid cohesion N-acetyltransferase 2	gene	DOID:5325	Roberts syndrome		ISO	RGD:1350541	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: ESCO2-related condition | ClinVar Annotator: match by term: Roberts syndrome | ClinVar Annotator: match by term: Roberts-SC phocomelia syndrome	PMID:15821733|PMID:16199547|PMID:16380922|PMID:1642282|PMID:16775838|PMID:18411254|PMID:18414213|PMID:19574259|PMID:20101700|PMID:20301332|PMID:24864645|PMID:25741868|PMID:26710928|PMID:28492532|PMID:30508616|PMID:30590172|PMID:31192177|PMID:31976146|PMID:3740099|PMID:495649
8837464	Esco2	establishment of sister chromatid cohesion N-acetyltransferase 2	gene	DOID:5325	Roberts syndrome		ISO	RGD:1350541	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ESCO2-related condition | ClinVar Annotator: match by term: Hypomelia hypotrichosis facial hemangioma syndrome | ClinVar Annotator: match by term: ROBERTS-SC PHOCOMELIA SYNDROME | ClinVar Annotator: match by term: Roberts Syndrome | ClinVar Annotator: match by term: Roberts syndrome | ClinVar Annotator: match by term: Roberts-SC phocomelia syndrome	PMID:15821733|PMID:16199547|PMID:16380922|PMID:16775838|PMID:17576681|PMID:18411254|PMID:18414213|PMID:19574259|PMID:19738907|PMID:20101700|PMID:20301332|PMID:25741868|PMID:26193234|PMID:26710928|PMID:28492532|PMID:29930102|PMID:30508616|PMID:30590172|PMID:31976146|PMID:32255174|PMID:32977150|PMID:37377435|PMID:3740099|PMID:9536098
8837464	Esco2	establishment of sister chromatid cohesion N-acetyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837464	Esco2	establishment of sister chromatid cohesion N-acetyltransferase 2	gene	DOID:630	genetic disease		ISO	RGD:1350541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15821733|PMID:16380922|PMID:18411254|PMID:19574259|PMID:20301332|PMID:25741868|PMID:28492532
8837464	Esco2	establishment of sister chromatid cohesion N-acetyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8837464	Esco2	establishment of sister chromatid cohesion N-acetyltransferase 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1350541	D	RGD:9068941	20230105	RGD		mRNA:increased expression:peripheral blood mononuclear cell	PMID:36104638|REF_RGD_ID:155791669
8837464	Esco2	establishment of sister chromatid cohesion N-acetyltransferase 2	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1350541	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28321044
8837464	Esco2	establishment of sister chromatid cohesion N-acetyltransferase 2	gene	DOID:9005190	Juberg-Hayward Syndrome		ISO	RGD:1350541	D	RGD:7240710	20210324	OMIM			
8837464	Esco2	establishment of sister chromatid cohesion N-acetyltransferase 2	gene	DOID:9005190	Juberg-Hayward Syndrome		ISO	RGD:1350541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip/palate with abnormal thumbs and microcephaly | ClinVar Annotator: match by term: Juberg-Hayward syndrome	PMID:16380922|PMID:20301332|PMID:25741868|PMID:28492532
8837483	Cpsf6	cleavage and polyadenylation specific factor 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837483	Cpsf6	cleavage and polyadenylation specific factor 6	gene	DOID:1115	sarcoma		ISO	RGD:1312196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8837483	Cpsf6	cleavage and polyadenylation specific factor 6	gene	DOID:1909	melanoma		ISO	RGD:1312196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8837483	Cpsf6	cleavage and polyadenylation specific factor 6	gene	DOID:3070	high grade glioma		ISO	RGD:1312196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8837483	Cpsf6	cleavage and polyadenylation specific factor 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8837483	Cpsf6	cleavage and polyadenylation specific factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837483	Cpsf6	cleavage and polyadenylation specific factor 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8837483	Cpsf6	cleavage and polyadenylation specific factor 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
8837483	Cpsf6	cleavage and polyadenylation specific factor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837483	Cpsf6	cleavage and polyadenylation specific factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8837483	Cpsf6	cleavage and polyadenylation specific factor 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8837505	Setd6	SET domain containing 6, protein lysine methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837505	Setd6	SET domain containing 6, protein lysine methyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1605343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8837505	Setd6	SET domain containing 6, protein lysine methyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1605343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8837505	Setd6	SET domain containing 6, protein lysine methyltransferase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8837505	Setd6	SET domain containing 6, protein lysine methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837505	Setd6	SET domain containing 6, protein lysine methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8837520	Zar1l	zygote arrest 1 like	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:2311474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8837520	Zar1l	zygote arrest 1 like	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:2311474	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28492532|PMID:29766361|PMID:31843900
8837520	Zar1l	zygote arrest 1 like	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:2311474	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532|PMID:29766361|PMID:31843900
8837520	Zar1l	zygote arrest 1 like	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:2311474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
8837526	Sgcz	sarcoglycan zeta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837526	Sgcz	sarcoglycan zeta	gene	DOID:1324	lung cancer		ISO	RGD:1317183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8837526	Sgcz	sarcoglycan zeta	gene	DOID:1909	melanoma		ISO	RGD:1317183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8837526	Sgcz	sarcoglycan zeta	gene	DOID:37	skin disease		ISO	RGD:1317183	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28720099
8837526	Sgcz	sarcoglycan zeta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8837526	Sgcz	sarcoglycan zeta	gene	DOID:670	amphetamine abuse		ISO	RGD:1317183	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
8837536	Ramp3	receptor activity modifying protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837536	Ramp3	receptor activity modifying protein 3	gene	DOID:9256	colorectal cancer		ISO	RGD:737378	D	RGD:9068941	20220609	RGD		mRNA:increased expression:colorectum (human)	PMID:21839130|REF_RGD_ID:152985531
8837543	Cldnd1	claudin domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8837543	Cldnd1	claudin domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1349033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8837543	Cldnd1	claudin domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837581	Amh	anti-Mullerian hormone	gene	DOID:0050791	persistent Mullerian duct syndrome		ISO	RGD:736161	D	RGD:7240710	20180130	OMIM			
8837581	Amh	anti-Mullerian hormone	gene	DOID:0050791	persistent Mullerian duct syndrome		ISO	RGD:736161	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMH-related condition | ClinVar Annotator: match by term: PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I | ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent oviduct syndrome	PMID:14673134|PMID:22188863|PMID:25741868|PMID:28492532|PMID:28505284|PMID:28528332|PMID:30668521|PMID:30786001|PMID:31277073|PMID:31291191|PMID:32172781|PMID:34810374|PMID:37004205|PMID:8162013
8837581	Amh	anti-Mullerian hormone	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:736161	D	RGD:8554872	20220927	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
8837581	Amh	anti-Mullerian hormone	gene	DOID:0111026	cone-rod dystrophy 20		ISO	RGD:736161	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy 20	PMID:25741868
8837581	Amh	anti-Mullerian hormone	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:736161	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17224152|REF_RGD_ID:1601181
8837581	Amh	anti-Mullerian hormone	gene	DOID:1612	breast cancer	onset	ISO	RGD:736161	D	RGD:9068941	20200609	RGD			PMID:19820206|REF_RGD_ID:2315637
8837581	Amh	anti-Mullerian hormone	gene	DOID:1923	disorder of sexual development	susceptibility	ISO	RGD:736161	D	RGD:9068941	20200609	RGD		Persistent Mullerian Duct Syndrome type I, OMIM:261550;DNA:deletion, nonsense mutation:exon	PMID:1483695|REF_RGD_ID:1601180
8837581	Amh	anti-Mullerian hormone	gene	DOID:2999	granulosa cell tumor	disease_progression	ISO	RGD:736161	D	RGD:9068941	20200609	RGD			PMID:19359032|REF_RGD_ID:2315639
8837581	Amh	anti-Mullerian hormone	gene	DOID:4001	ovarian carcinoma	treatment	ISO	RGD:736161	D	RGD:9068941	20200626	RGD			PMID:16533786|REF_RGD_ID:2315652
8837581	Amh	anti-Mullerian hormone	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736161	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
8837581	Amh	anti-Mullerian hormone	gene	DOID:630	genetic disease		ISO	RGD:736161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8837581	Amh	anti-Mullerian hormone	gene	DOID:9002739	Female Urogenital Diseases		ISO	RGD:736161	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16002989
8837581	Amh	anti-Mullerian hormone	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:736161	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:ovary	PMID:19424576|REF_RGD_ID:2315638
8837581	Amh	anti-Mullerian hormone	gene	DOID:9970	obesity		ISO	RGD:736161	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:17109858|REF_RGD_ID:1601182
8837597	Panx1	pannexin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837597	Panx1	pannexin 1	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:735204	D	RGD:9068941	20200609	RGD			PMID:31630543|REF_RGD_ID:14995937
8837597	Panx1	pannexin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8837597	Panx1	pannexin 1	gene	DOID:1115	sarcoma		ISO	RGD:1347653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8837597	Panx1	pannexin 1	gene	DOID:1324	lung cancer		ISO	RGD:1347653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8837597	Panx1	pannexin 1	gene	DOID:1596	depressive disorder		ISO	RGD:1347653	D	RGD:9068941	20231109	RGD		DNA:SNP:CDS:multiple (human)	PMID:35642741|REF_RGD_ID:401854249
8837597	Panx1	pannexin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8837597	Panx1	pannexin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8837597	Panx1	pannexin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837597	Panx1	pannexin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8837597	Panx1	pannexin 1	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1347653	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29246445
8837597	Panx1	pannexin 1	gene	DOID:9004707	Massive Hepatic Necrosis		ISO	RGD:1347653	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29246445
8837597	Panx1	pannexin 1	gene	DOID:9005028	Oocyte/Zygote/Embryo Maturation Arrest 7		ISO	RGD:1347653	D	RGD:7240710	20190911	OMIM			
8837597	Panx1	pannexin 1	gene	DOID:9005028	Oocyte/Zygote/Embryo Maturation Arrest 7		ISO	RGD:1347653	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 7 | ClinVar Annotator: match by term: Oocyte maturation defect 7 | ClinVar Annotator: match by term: PANX1-related condition	PMID:25741868
8837597	Panx1	pannexin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837597	Panx1	pannexin 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1347653	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29246445
8837597	Panx1	pannexin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8837606	Tnmd	tenomodulin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8837606	Tnmd	tenomodulin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2	PMID:20170900|PMID:25741868|PMID:28389643|PMID:28492532|PMID:32294113
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:0111196	X-linked distal spinal muscular atrophy 3		ISO	RGD:10216	D	RGD:7240710	20180130	OMIM			
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:0111196	X-linked distal spinal muscular atrophy 3		ISO	RGD:10216	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE	PMID:11241493|PMID:11472597|PMID:15517445|PMID:16083905|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20045993|PMID:20170900|PMID:20652413|PMID:21494555|PMID:22210628|PMID:22573628|PMID:23217327|PMID:23281160|PMID:24033266|PMID:25428120|PMID:25741868|PMID:28119449|PMID:28451781|PMID:28492532|PMID:30809870|PMID:31319225|PMID:31959876|PMID:32293788|PMID:32818659|PMID:33057194|PMID:33151932|PMID:33359139|PMID:36474027|PMID:8981948|PMID:9536098
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:0111200	autosomal dominant distal hereditary motor neuronopathy 1		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 1	PMID:28492532
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:0111272	occipital horn syndrome		ISO	RGD:10216	D	RGD:7240710	20180130	OMIM			
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:0111272	occipital horn syndrome		ISO	RGD:10216	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cutis laxa, X-linked | ClinVar Annotator: match by term: EDS IX | ClinVar Annotator: match by term: OCCIPITAL HORN SYNDROME | ClinVar Annotator: match by term: Occipital horn syndrome	PMID:10319589|PMID:11241493|PMID:11350187|PMID:11431706|PMID:11472597|PMID:14635105|PMID:15517445|PMID:15596607|PMID:15981243|PMID:16083905|PMID:16199547|PMID:17576681|PMID:18256395|PMID:18414213|PMID:18752978|PMID:20045993|PMID:20170900|PMID:20497190|PMID:20652413|PMID:20799318|PMID:21208200|PMID:21494555|PMID:21716286|PMID:22074552|PMID:22210628|PMID:22552817|PMID:22573628|PMID:23217327|PMID:23281160|PMID:24033266|PMID:24919650|PMID:25428120|PMID:25640679|PMID:25741868|PMID:28119449|PMID:28389643|PMID:28397151|PMID:28451781|PMID:28492532|PMID:29499166|PMID:30809870|PMID:31124329|PMID:31319225|PMID:31959876|PMID:32293788|PMID:32818659|PMID:33057194|PMID:33151932|PMID:33359139|PMID:34440436|PMID:36474027|PMID:7842019|PMID:7977350|PMID:8981948|PMID:9536098
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:1059	intellectual disability		ISO	RGD:10216	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:10652	Alzheimer's disease		ISO	RGD:2179	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:pituitary gland, vascular plexus (rat)	PMID:20027333|REF_RGD_ID:8657017
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:10907	microcephaly		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:18414213|PMID:24919650|PMID:25741868
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:1115	sarcoma		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:11758	iron deficiency anemia		ISO	RGD:10215	D	RGD:9068941	20200609	RGD		mRNA:increased expression:duodenum (mouse)	PMID:23776592|REF_RGD_ID:11252172
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:11758	iron deficiency anemia		ISO	RGD:2179	D	RGD:9068941	20200609	RGD		mRNA:increased expression:small intestine mucosa (rat)	PMID:15637178|REF_RGD_ID:2315589
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:11758	iron deficiency anemia	severity	ISO	RGD:10215	D	RGD:9068941	20200609	RGD		DNA:deletion:cds:p.A799_L800del (mouse)	PMID:23776592|REF_RGD_ID:11252172
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:11830	myopia		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:11832	visual epilepsy		ISO	RGD:10216	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:22815746
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:18414213|PMID:24919650|PMID:25741868
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:12849	autistic disorder		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:1324	lung cancer		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:18414213|PMID:25741868|PMID:28492532|PMID:31959876|PMID:33359139
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:1826	epilepsy		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:18414213|PMID:24919650|PMID:25741868
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:1838	Menkes disease		ISO	RGD:10216	D	RGD:7240710	20180130	OMIM			
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:1838	Menkes disease		ISO	RGD:10216	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive | ClinVar Annotator: match by term: Menkes kinky-hair syndrome	PMID:10319589|PMID:10570920|PMID:10739752|PMID:11241493|PMID:11350187|PMID:12221109|PMID:12676902|PMID:14635105|PMID:14985388|PMID:15372525|PMID:16083905|PMID:16199547|PMID:16826513|PMID:17108763|PMID:17496194|PMID:17576681|PMID:18414213|PMID:18752978|PMID:19153371|PMID:19194885|PMID:20045993|PMID:20170900|PMID:20301586|PMID:20652413|PMID:21208200|PMID:21494555|PMID:21716286|PMID:22361452|PMID:23281160|PMID:24033266|PMID:25150085|PMID:25428120|PMID:25640679|PMID:25741868|PMID:26117549|PMID:27878136|PMID:28251916|PMID:28389643|PMID:28397151|PMID:28492532|PMID:29653220|PMID:30809870|PMID:31124329|PMID:31319225|PMID:32005694|PMID:32293788|PMID:33999244|PMID:34008892|PMID:7842019|PMID:7977350|PMID:8812725|PMID:8981948|PMID:9246006|PMID:9536098|PMID:9894833
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:1838	Menkes disease		ISO	RGD:10216	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MENKES DISEASE | ClinVar Annotator: match by term: MENKES DISEASE, MILD | ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes disease | ClinVar Annotator: match by term: Menkes kinky hair syndrome | ClinVar Annotator: match by term: Menkes kinky-hair syndrome	PMID:10319589|PMID:10393914|PMID:10401004|PMID:10463276|PMID:10739752|PMID:11043517|PMID:11241493|PMID:11350187|PMID:11431706|PMID:11472597|PMID:11936860|PMID:12088078|PMID:12427520|PMID:12537648|PMID:12939451|PMID:14635105|PMID:15106121|PMID:15184642|PMID:15238919|PMID:15372525|PMID:15517445|PMID:15596607|PMID:15693857|PMID:15981243|PMID:16083905|PMID:16098018|PMID:16199547|PMID:16278898|PMID:17108763|PMID:17427918|PMID:17483305|PMID:17496194|PMID:17502470|PMID:17576681|PMID:18256395|PMID:18272047|PMID:18414213|PMID:18664244|PMID:18752978|PMID:19194885|PMID:19429807|PMID:19735987|PMID:19768483|PMID:20045102|PMID:20045993|PMID:20301586|PMID:20497190|PMID:20652413|PMID:20799318|PMID:20818383|PMID:20932283|PMID:21194679|PMID:21208200|PMID:21228398|PMID:21321493|PMID:21494555|PMID:21667063|PMID:21716286|PMID:21738351|PMID:22019070|PMID:22206013|PMID:22264391|PMID:22361452|PMID:22378671|PMID:22552817|PMID:22573628|PMID:23035047|PMID:23108492|PMID:23217327|PMID:23281160|PMID:24033266|PMID:24630286|PMID:24882692|PMID:24919650|PMID:25025039|PMID:25150085|PMID:25214167|PMID:25281031|PMID:25428120|PMID:25583628|PMID:25741868|PMID:25817015|PMID:26117549|PMID:28389643|PMID:28397151|PMID:28451781|PMID:28492532|PMID:29499166|PMID:30618512|PMID:30809870|PMID:31319225|PMID:31959876|PMID:32005694|PMID:32293788|PMID:32818659|PMID:33057194|PMID:33151932|PMID:33359139|PMID:33999244|PMID:34008892|PMID:34302356|PMID:34430447|PMID:34440436|PMID:36474027|PMID:36692329|PMID:7977350|PMID:8526465|PMID:8528242|PMID:8812725|PMID:8981948|PMID:9166584|PMID:9385451|PMID:9467005|PMID:9536098|PMID:9668166
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:1838	Menkes disease	severity	ISO	RGD:10216	D	RGD:9068941	20200609	RGD		DNA:duplication:exon:	PMID:22074552|REF_RGD_ID:12879459
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:1909	melanoma		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:2355	anemia		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23776592
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:3144	cutis laxa	susceptibility	ISO	RGD:10216	D	RGD:9068941	20200609	RGD		DNA:splice-site mutation	PMID:10739752|REF_RGD_ID:734621
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:3627	aortic aneurysm		ISO	RGD:10215	D	RGD:9068941	20220825	MouseDO			
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:2179	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:diaphragm (rat)	PMID:25319798|REF_RGD_ID:11341670
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:10216	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:630	genetic disease		ISO	RGD:10216	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10570920|PMID:11241493|PMID:16083905|PMID:18414213|PMID:18752978|PMID:20045993|PMID:21716286|PMID:22264391|PMID:23281160|PMID:24033266|PMID:25741868|PMID:27878136|PMID:28389643|PMID:28397151|PMID:28492532|PMID:29653220|PMID:8981948
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:630	genetic disease		ISO	RGD:10216	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16083905|PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31959876|PMID:32818659|PMID:33151932|PMID:33359139|PMID:36474027
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:6432	pulmonary hypertension		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24614111
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:8398	osteoarthritis		ISO	RGD:10215	D	RGD:9068941	20220825	MouseDO		OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400	
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:893	Wilson disease		ISO	RGD:2179	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus (rat)	PMID:27331785|REF_RGD_ID:11340212
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9000351	Diarrhea 9		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9000352	Vascular System Injuries		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20671235
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9000495	Tremor		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22815746
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9001031	Retrognathia		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:18414213|PMID:24919650|PMID:25741868
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9001276	Failure to Thrive		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:18414213|PMID:24919650|PMID:25741868
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9001528	ARTERIAL DISSECTION		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arterial dissection	PMID:28492532
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23792645
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9002207	Renal Aminoacidurias		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aminoaciduria	PMID:18414213|PMID:24919650|PMID:25741868
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:18414213|PMID:24919650|PMID:25741868
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9002514	Neointima		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20671235
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9002801	Recurrence		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22304828
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17510416
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9003279	Joint Dislocations		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint dislocation	
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9003507	Premature Birth		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9003603	Hemolysis		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25247420
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9003703	Coxa Valga		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coxa valga	PMID:18414213|PMID:24919650|PMID:25741868
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9003814	Neurologic Manifestations		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22815746|PMID:23064757
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9004080	Aortic Rupture		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2346371|PMID:25449986
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9004866	Ataxia		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22815746
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9005077	Joint Instability		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9005246	Paralysis		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22815746
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9005532	Muscle Weakness		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9005695	Malnutrition		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malnutrition	PMID:18414213|PMID:24919650|PMID:25741868
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9006205	Animal Disease Models		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17483305
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9006257	Growth Disorders		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23064757
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9006945	Diabetic Cardiomyopathies	treatment	ISO	RGD:2179	D	RGD:9068941	20200609	RGD			PMID:24927960|REF_RGD_ID:11341676
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9007023	Prenatal Injuries		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25456742
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9007402	Gliosis		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gliosis	PMID:18414213|PMID:24919650|PMID:25741868
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9007661	Dwarfism		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:18414213|PMID:24919650|PMID:25741868
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:18414213|PMID:24919650|PMID:25741868|PMID:28492532
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25053573
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9423	blepharitis		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharitis	PMID:18414213|PMID:24919650|PMID:25741868
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9840	esotropia		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophoria	PMID:18414213|PMID:24919650|PMID:25741868
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9884	muscular dystrophy		ISO	RGD:10216	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:14635105|PMID:25741868|PMID:28492532|PMID:34440436
8837623	Atp7a	ATPase copper transporting alpha	gene	DOID:9970	obesity		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
8837653	Tbk1	TANK binding kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8837653	Tbk1	TANK binding kinase 1	gene	DOID:0081013	severe COVID-19		ISO	RGD:1313752	D	RGD:8554872	20230516	ClinVar		ClinVar Annotator: match by term: Susceptibility to severe COVID-19	PMID:25741868|PMID:28492532
8837653	Tbk1	TANK binding kinase 1	gene	DOID:0081390	progressive non-fluent aphasia		ISO	RGD:1313752	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary progressive non fluent aphasia	
8837653	Tbk1	TANK binding kinase 1	gene	DOID:0110069	frontotemporal dementia and/or amyotrophic lateral sclerosis 4		ISO	RGD:1313752	D	RGD:7240710	20260722	OMIM			
8837653	Tbk1	TANK binding kinase 1	gene	DOID:0110069	frontotemporal dementia and/or amyotrophic lateral sclerosis 4		ISO	RGD:1313752	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 | ClinVar Annotator: match by term: FTDALS4 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	PMID:16199547|PMID:17576681|PMID:21447600|PMID:23453972|PMID:24033266|PMID:25700176|PMID:25741868|PMID:25803835|PMID:25943890|PMID:26476236|PMID:26581300|PMID:26804609|PMID:27156075|PMID:27211305|PMID:27260353|PMID:27892983|PMID:28008748|PMID:28089114|PMID:28365590|PMID:28492532|PMID:28822984|PMID:29146049|PMID:29149916|PMID:29398122|PMID:30033073|PMID:30293248|PMID:31000212|PMID:31244341|PMID:31475037|PMID:31498468|PMID:31748271|PMID:31914217|PMID:31996268|PMID:32409511|PMID:32413959|PMID:32447396|PMID:32579787|PMID:32638105|PMID:32772249|PMID:32893041|PMID:32980182|PMID:33057194|PMID:33208543|PMID:33245169|PMID:33408239|PMID:33618928|PMID:34099552|PMID:34363755|PMID:34544842|PMID:35118923|PMID:35260199|PMID:35283724|PMID:35896380|PMID:35982159|PMID:37159497|PMID:37952009|PMID:9536098
8837653	Tbk1	TANK binding kinase 1	gene	DOID:0110823	hereditary spastic paraplegia 8		ISO	RGD:1313752	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia 8	PMID:25741868
8837653	Tbk1	TANK binding kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28008748|PMID:28492532
8837653	Tbk1	TANK binding kinase 1	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:1313752	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Primary open angle glaucoma	PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532
8837653	Tbk1	TANK binding kinase 1	gene	DOID:10967	spastic hemiplegia		ISO	RGD:1313752	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Spastic hemiplegia	PMID:25741868|PMID:26581300|PMID:28008748|PMID:28492532|PMID:28822984|PMID:32409511
8837653	Tbk1	TANK binding kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1313752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8837653	Tbk1	TANK binding kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1313752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
8837653	Tbk1	TANK binding kinase 1	gene	DOID:1596	depressive disorder		ISO	RGD:1313752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532
8837653	Tbk1	TANK binding kinase 1	gene	DOID:1909	melanoma		ISO	RGD:1313752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8837653	Tbk1	TANK binding kinase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1313752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532
8837653	Tbk1	TANK binding kinase 1	gene	DOID:219	colon cancer		ISO	RGD:1313752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532
8837653	Tbk1	TANK binding kinase 1	gene	DOID:231	motor neuron disease		ISO	RGD:1313752	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Motor neuron disease	PMID:21447600|PMID:25700176|PMID:25741868|PMID:25803835|PMID:26476236|PMID:26581300|PMID:26804609|PMID:28089114|PMID:28492532|PMID:31748271|PMID:31996268|PMID:32317127|PMID:37159497
8837653	Tbk1	TANK binding kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8837653	Tbk1	TANK binding kinase 1	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1313752	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26861016
8837653	Tbk1	TANK binding kinase 1	gene	DOID:3087	gingivitis		ISO	RGD:1313752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532
8837653	Tbk1	TANK binding kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1313752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8837653	Tbk1	TANK binding kinase 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1313752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:16199547|PMID:25741868|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|PMID:33245169
8837653	Tbk1	TANK binding kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313752	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8837653	Tbk1	TANK binding kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837653	Tbk1	TANK binding kinase 1	gene	DOID:630	genetic disease		ISO	RGD:1313752	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8837653	Tbk1	TANK binding kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8837653	Tbk1	TANK binding kinase 1	gene	DOID:9000417	Glaucoma 1, Open Angle, P		ISO	RGD:1313752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma 1, open angle, P	PMID:24033266|PMID:25741868|PMID:27211305|PMID:28492532|PMID:29146049|PMID:31498468|PMID:32893041
8837653	Tbk1	TANK binding kinase 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1313752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532
8837653	Tbk1	TANK binding kinase 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1313752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532
8837653	Tbk1	TANK binding kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837653	Tbk1	TANK binding kinase 1	gene	DOID:9007736	Vertigo		ISO	RGD:1313752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532
8837653	Tbk1	TANK binding kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
8837653	Tbk1	TANK binding kinase 1	gene	DOID:9009070	Herpes Simplex Encephalitis 1		ISO	RGD:1313752	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1	PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532
8837653	Tbk1	TANK binding kinase 1	gene	DOID:9009137	AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS		ISO	RGD:1313752	D	RGD:7240710	20260722	OMIM			
8837653	Tbk1	TANK binding kinase 1	gene	DOID:9009137	AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS		ISO	RGD:1313752	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS | ClinVar Annotator: match by term: Autoinflammation with arthritis and vasculitis	PMID:21447600|PMID:25700176|PMID:25741868|PMID:25803835|PMID:28089114|PMID:28492532|PMID:31748271|PMID:31996268|PMID:37159497
8837653	Tbk1	TANK binding kinase 1	gene	DOID:9009143	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC),  8		ISO	RGD:1313752	D	RGD:7240710	20260722	OMIM			
8837653	Tbk1	TANK binding kinase 1	gene	DOID:9009143	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC),  8		ISO	RGD:1313752	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 | ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | ClinVar Annotator: match by term: HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 6	PMID:21447600|PMID:22851595|PMID:25700176|PMID:25741868|PMID:25803835|PMID:26476236|PMID:26581300|PMID:27156075|PMID:28008748|PMID:28089114|PMID:28492532|PMID:31748271|PMID:31996268|PMID:37159497
8837653	Tbk1	TANK binding kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8837653	Tbk1	TANK binding kinase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1313752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8837689	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1318735	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Xeroderma pigmentosum	PMID:1372103|PMID:15214909|PMID:21148310|PMID:24135642|PMID:25741868|PMID:26743599|PMID:27603812|PMID:27607234|PMID:28492532|PMID:29208038|PMID:34374989|PMID:7876263|PMID:8105686|PMID:8541864|PMID:9671271
8837689	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:0110843	xeroderma pigmentosum group A		ISO	RGD:1318735	D	RGD:7240710	20180418	OMIM			
8837689	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:0110843	xeroderma pigmentosum group A		ISO	RGD:1318735	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A | ClinVar Annotator: match by term: XP, group A | ClinVar Annotator: match by term: XPA-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum group A | ClinVar Annotator: match by term: Xeroderma pigmentosum, group A	PMID:10408173|PMID:1339397|PMID:1372102|PMID:1372103|PMID:15214909|PMID:1601884|PMID:16199547|PMID:16905156|PMID:1702221|PMID:17576681|PMID:18414213|PMID:20054342|PMID:20199544|PMID:20534089|PMID:20574439|PMID:22081045|PMID:2234061|PMID:23194742|PMID:24063568|PMID:24135642|PMID:24704021|PMID:24757057|PMID:25256075|PMID:25525159|PMID:25566891|PMID:25741868|PMID:26743599|PMID:26884178|PMID:27413738|PMID:27607234|PMID:27982466|PMID:28492532|PMID:29208038|PMID:31478152|PMID:35178751|PMID:35687855|PMID:36893274|PMID:39129919|PMID:39621777|PMID:7577588|PMID:8105686|PMID:8765158|PMID:9536098|PMID:9671271
8837689	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:10534	stomach cancer		ISO	RGD:1318735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8837689	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:1115	sarcoma		ISO	RGD:1318735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8837689	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1318735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Basal cell carcinoma	
8837689	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1316157	D	RGD:9068941	20200609	RGD			PMID:19114557|REF_RGD_ID:10401087
8837689	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1318735	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8837689	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837689	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:630	genetic disease		ISO	RGD:1318735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26743599|PMID:26884178
8837689	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8837689	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:9002245	Intestinal Neoplasms		ISO	RGD:1318735	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16962818
8837689	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1318735	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10755388|PMID:16962818
8837689	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:1318735	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21216194|PMID:9885240
8837689	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837689	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1318735	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24084170
8837689	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8837689	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8837713	Usp26	ubiquitin specific peptidase 26	gene	DOID:0070597	X-linked spermatogenic failure 6		ISO	RGD:1354275	D	RGD:7240710	20230505	OMIM			
8837713	Usp26	ubiquitin specific peptidase 26	gene	DOID:0070597	X-linked spermatogenic failure 6		ISO	RGD:1354275	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE, X-LINKED, 6 | ClinVar Annotator: match by term: USP26-related condition	PMID:25741868|PMID:28492532
8837713	Usp26	ubiquitin specific peptidase 26	gene	DOID:14228	oligospermia		ISO	RGD:1354275	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Oligozoospermia	PMID:25741868|PMID:30561524|PMID:31551464
8837713	Usp26	ubiquitin specific peptidase 26	gene	DOID:9001513	Asthenozoospermia		ISO	RGD:1354275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthenoteratozoospermia	
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:0070298	multiple epiphyseal dysplasia 2		ISO	RGD:1315981	D	RGD:7240710	20180130	OMIM			
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:0070298	multiple epiphyseal dysplasia 2		ISO	RGD:1315981	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 2	PMID:10364514|PMID:11565064|PMID:12244547|PMID:16199547|PMID:17576681|PMID:20358595|PMID:21671392|PMID:21922596|PMID:21965141|PMID:25741868|PMID:26467025|PMID:26566670|PMID:28492532|PMID:30311386|PMID:33356723|PMID:35250876|PMID:8528240|PMID:9536098
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:0070305	multiple epiphyseal dysplasia due to collagen 9 anomaly		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COL9A2-related disorder	PMID:28492532|PMID:30311386
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:0080046	Stickler syndrome		ISO	RGD:1315981	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Stickler syndrome	PMID:21671392|PMID:25741868|PMID:26566670|PMID:28492532|PMID:30311386|PMID:31896775|PMID:33356723
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:1059	intellectual disability		ISO	RGD:1315981	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:11830	myopia		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:12721	multiple epiphyseal dysplasia		ISO	RGD:1315981	D	RGD:8554872	20250121	ClinVar		ClinVar Annotator: match by term: Epiphyseal dysplasia	PMID:25741868
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:1324	lung cancer		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:17576681|PMID:28492532|PMID:9536098
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:1909	melanoma		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:2256	osteochondrodysplasia	susceptibility	ISO	RGD:1315981	D	RGD:9068941	20200609	RGD		DNA:splice-site mutation	PMID:8528240|REF_RGD_ID:1600952
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:3275	thymoma		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1315981	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:630	genetic disease		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:65	connective tissue disease		ISO	RGD:1315981	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:11565064|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29026132
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:65	connective tissue disease		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:11565064|PMID:25741868|PMID:26467025|PMID:28492532
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:9002691	Stickler Syndrome, Type V		ISO	RGD:1315981	D	RGD:7240710	20180130	OMIM			
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:9002691	Stickler Syndrome, Type V		ISO	RGD:1315981	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COL9A2-related condition | ClinVar Annotator: match by term: Stickler syndrome, type 5	PMID:10364514|PMID:12244547|PMID:17576681|PMID:20358595|PMID:21671392|PMID:21922596|PMID:25741868|PMID:26566670|PMID:28492532|PMID:29907799|PMID:30311386|PMID:32532877|PMID:33356723|PMID:9536098
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1315981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:9004538	Hearing Loss		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing loss	PMID:28492532|PMID:30311386
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:9005077	Joint Instability		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
8837733	Col9a2	collagen type IX alpha 2 chain	gene	DOID:9256	colorectal cancer		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:17576681|PMID:28492532|PMID:9536098
8837795	Tlcd3b	TLC domain containing 3B	gene	DOID:0081448	cone-rod dystrophy 22		ISO	RGD:1605610	D	RGD:7240710	20210929	OMIM			
8837795	Tlcd3b	TLC domain containing 3B	gene	DOID:0081448	cone-rod dystrophy 22		ISO	RGD:1605610	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 22	
8837795	Tlcd3b	TLC domain containing 3B	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1605610	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
8837795	Tlcd3b	TLC domain containing 3B	gene	DOID:1324	lung cancer		ISO	RGD:1605610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8837795	Tlcd3b	TLC domain containing 3B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8837814	Aknad1	AKNA domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8837814	Aknad1	AKNA domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837814	Aknad1	AKNA domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8837814	Aknad1	AKNA domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1604964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8837814	Aknad1	AKNA domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1604964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8837814	Aknad1	AKNA domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604964	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8837814	Aknad1	AKNA domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8837814	Aknad1	AKNA domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8837814	Aknad1	AKNA domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8837841	Gin1	gypsy retrotransposon integrase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8837841	Gin1	gypsy retrotransposon integrase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837841	Gin1	gypsy retrotransposon integrase 1	gene	DOID:1115	sarcoma		ISO	RGD:1603218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8837841	Gin1	gypsy retrotransposon integrase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8837841	Gin1	gypsy retrotransposon integrase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837841	Gin1	gypsy retrotransposon integrase 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1603218	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143596
8837841	Gin1	gypsy retrotransposon integrase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837863	Neurl1b	neuralized E3 ubiquitin protein ligase 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2303667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837863	Neurl1b	neuralized E3 ubiquitin protein ligase 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2303667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837863	Neurl1b	neuralized E3 ubiquitin protein ligase 1B	gene	DOID:630	genetic disease		ISO	RGD:2303667	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8837863	Neurl1b	neuralized E3 ubiquitin protein ligase 1B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2303667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8837874	Kcnmb4	potassium calcium-activated channel subfamily M regulatory beta subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1343155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8837874	Kcnmb4	potassium calcium-activated channel subfamily M regulatory beta subunit 4	gene	DOID:1909	melanoma		ISO	RGD:1343155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8837874	Kcnmb4	potassium calcium-activated channel subfamily M regulatory beta subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1343155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8837874	Kcnmb4	potassium calcium-activated channel subfamily M regulatory beta subunit 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8837874	Kcnmb4	potassium calcium-activated channel subfamily M regulatory beta subunit 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8837881	Muc19	mucin 19, oligomeric	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1343631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21983784
8837881	Muc19	mucin 19, oligomeric	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1320940	D	RGD:9068941	20220825	MouseDO		OMIM:270150	
8837881	Muc19	mucin 19, oligomeric	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1343631	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:conjunctival epithelial cell	PMID:18184611|REF_RGD_ID:7364736
8837887	Rhov	ras homolog family member V	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837887	Rhov	ras homolog family member V	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8837887	Rhov	ras homolog family member V	gene	DOID:4362	cervical cancer		ISO	RGD:1604729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8837894	Trim40	tripartite motif containing 40	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837894	Trim40	tripartite motif containing 40	gene	DOID:1909	melanoma		ISO	RGD:1346356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8837894	Trim40	tripartite motif containing 40	gene	DOID:2772	irritant dermatitis		ISO	RGD:1346356	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27258892
8837894	Trim40	tripartite motif containing 40	gene	DOID:5041	esophageal cancer		ISO	RGD:1346356	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8837894	Trim40	tripartite motif containing 40	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8837903	P2ry14	purinergic receptor P2Y14	gene	DOID:0080600	COVID-19		ISO	RGD:1347256	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
8837929	Ramac	RNA guanine-7 methyltransferase activating subunit	gene	DOID:1324	lung cancer		ISO	RGD:1320685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8837929	Ramac	RNA guanine-7 methyltransferase activating subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837936	Sgms2	sphingomyelin synthase 2	gene	DOID:0080721	calvarial doughnut lesions with bone fragility		ISO	RGD:1605563	D	RGD:7240710	20190731	OMIM			
8837974	Gusb	glucuronidase beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8837974	Gusb	glucuronidase beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8837974	Gusb	glucuronidase beta	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:737258	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8837974	Gusb	glucuronidase beta	gene	DOID:10283	prostate cancer		ISO	RGD:737258	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8837974	Gusb	glucuronidase beta	gene	DOID:10283	prostate cancer		ISO	RGD:737258	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8837974	Gusb	glucuronidase beta	gene	DOID:10534	stomach cancer		ISO	RGD:737258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8837974	Gusb	glucuronidase beta	gene	DOID:1059	intellectual disability		ISO	RGD:737258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8837974	Gusb	glucuronidase beta	gene	DOID:1115	sarcoma		ISO	RGD:737258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8837974	Gusb	glucuronidase beta	gene	DOID:12798	mucopolysaccharidosis	disease_progression	ISO	RGD:2772	D	RGD:9068941	20210312	RGD		protein:decreases activity:spleen, kidney, lung (rat)	PMID:2879381|REF_RGD_ID:42724461
8837974	Gusb	glucuronidase beta	gene	DOID:12800	mucopolysaccharidosis VI		ISO	RGD:737258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mucopolysaccharidosis type 6	PMID:19224584|PMID:25741868|PMID:28492532|PMID:9490302|PMID:9921904
8837974	Gusb	glucuronidase beta	gene	DOID:12803	mucopolysaccharidosis type VII		ISO	RGD:737258	D	RGD:7240710	20180130	OMIM			
8837974	Gusb	glucuronidase beta	gene	DOID:12803	mucopolysaccharidosis type VII		ISO	RGD:737258	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: GUSB DEFICIENCY | ClinVar Annotator: match by term: SLY SYNDROME | ClinVar Annotator: match by term: Sly syndrome	PMID:11226217|PMID:12403825|PMID:12522561|PMID:12859417|PMID:144057|PMID:14711113|PMID:16199547|PMID:16546179|PMID:1702266|PMID:17576681|PMID:1779626|PMID:1833732|PMID:19224584|PMID:1992472|PMID:2115490|PMID:21504867|PMID:21743015|PMID:23777470|PMID:24033266|PMID:24260279|PMID:25640679|PMID:25741868|PMID:26036949|PMID:26415878|PMID:26908836|PMID:28124119|PMID:28492532|PMID:28595941|PMID:28770119|PMID:28884947|PMID:29620724|PMID:29698805|PMID:30076350|PMID:30410095|PMID:30413728|PMID:30653816|PMID:30838730|PMID:31130284|PMID:31497474|PMID:31603145|PMID:33686258|PMID:33897756|PMID:34302381|PMID:37964423|PMID:38442846|PMID:39252126|PMID:6811712|PMID:7573038|PMID:7633414|PMID:7633417|PMID:7680524|PMID:8089138|PMID:8111412|PMID:8111413|PMID:8644704|PMID:8707294|PMID:9099834|PMID:9224584|PMID:9490302|PMID:9536098|PMID:9742570|PMID:9921904
8837974	Gusb	glucuronidase beta	gene	DOID:12803	mucopolysaccharidosis type VII		ISO	RGD:737258	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GUSB DEFICIENCY | ClinVar Annotator: match by term: GUSB-related disorder | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE VII | ClinVar Annotator: match by term: Mucopolysaccharidosis type 7 | ClinVar Annotator: match by term: Mucopolysaccharidosis type VII | ClinVar Annotator: match by term: SLY SYNDROME | ClinVar Annotator: match by term: mucopolysaccharidosis type 7	PMID:12522561|PMID:16199547|PMID:16546179|PMID:1702266|PMID:17576681|PMID:1779626|PMID:19224584|PMID:2115490|PMID:21504867|PMID:21743015|PMID:23777470|PMID:25640679|PMID:25741868|PMID:26415878|PMID:26908836|PMID:28124119|PMID:28492532|PMID:28595941|PMID:28770119|PMID:28884947|PMID:29620724|PMID:29698805|PMID:30076350|PMID:30442200|PMID:30653816|PMID:30838730|PMID:31497474|PMID:31603145|PMID:32079065|PMID:33686258|PMID:33897756|PMID:34302381|PMID:34420841|PMID:37964423|PMID:38442846|PMID:39252126|PMID:39891418|PMID:7573038|PMID:7633414|PMID:7680524|PMID:8111412|PMID:8111413|PMID:8644704|PMID:8707294|PMID:9099834|PMID:9224584|PMID:9490302|PMID:9536098|PMID:9742570
8837974	Gusb	glucuronidase beta	gene	DOID:1324	lung cancer		ISO	RGD:737258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8837974	Gusb	glucuronidase beta	gene	DOID:4362	cervical cancer		ISO	RGD:737258	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8837974	Gusb	glucuronidase beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737258	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8837974	Gusb	glucuronidase beta	gene	DOID:576	proteinuria		ISO	RGD:737258	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2880436
8837974	Gusb	glucuronidase beta	gene	DOID:630	genetic disease		ISO	RGD:737258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:34686181|PMID:34980134|PMID:38149215
8837974	Gusb	glucuronidase beta	gene	DOID:8283	peritonitis		ISO	RGD:2772	D	RGD:9068941	20210305	RGD		protein:altered expression:peritoneal cells (rat)	PMID:185091|REF_RGD_ID:42722008
8837974	Gusb	glucuronidase beta	gene	DOID:863	nervous system disease		ISO	RGD:737258	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7073948|PMID:7107415
8837974	Gusb	glucuronidase beta	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:2772	D	RGD:9068941	20210312	RGD			PMID:827200|REF_RGD_ID:42724460
8837974	Gusb	glucuronidase beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8837974	Gusb	glucuronidase beta	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:737258	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Non-Immune hydrops fetalis | ClinVar Annotator: match by term: Nonimmune hydrops fetalis	PMID:1779626|PMID:25741868|PMID:26036949|PMID:28492532|PMID:29620724|PMID:31130284|PMID:31497474|PMID:8644704
8837974	Gusb	glucuronidase beta	gene	DOID:9008821	Otitis Media with Effusion		IEP		D	RGD:11557999|PMID:2837976	20161104	RGD			
8838001	Homer2	homer scaffold protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8838001	Homer2	homer scaffold protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8838001	Homer2	homer scaffold protein 2	gene	DOID:0110589	autosomal dominant nonsyndromic deafness 68		ISO	RGD:1354175	D	RGD:7240710	20180130	OMIM			
8838001	Homer2	homer scaffold protein 2	gene	DOID:0110589	autosomal dominant nonsyndromic deafness 68		ISO	RGD:1354175	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 68 | ClinVar Annotator: match by term: Deafness, autosomal dominant 68 | ClinVar Annotator: match by term: HOMER2-related condition	PMID:25741868|PMID:26467025|PMID:28492532
8838001	Homer2	homer scaffold protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1354175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8838001	Homer2	homer scaffold protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1354175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:26467025|PMID:28492532
8838001	Homer2	homer scaffold protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1354175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:26467025|PMID:28492532
8838001	Homer2	homer scaffold protein 2	gene	DOID:3275	thymoma		ISO	RGD:1354175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:26467025|PMID:28492532
8838001	Homer2	homer scaffold protein 2	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:620705	D	RGD:9068941	20250717	RGD		mRNA:increased expression:hippocampus	PMID:18186018|REF_RGD_ID:10003053
8838001	Homer2	homer scaffold protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1354175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532
8838001	Homer2	homer scaffold protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:26467025|PMID:28492532
8838001	Homer2	homer scaffold protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1354175	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:26467025|PMID:28492532
8838001	Homer2	homer scaffold protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
8838001	Homer2	homer scaffold protein 2	gene	DOID:630	genetic disease		ISO	RGD:1354175	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8838001	Homer2	homer scaffold protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8838001	Homer2	homer scaffold protein 2	gene	DOID:767	muscular atrophy		ISO	RGD:620705	D	RGD:9068941	20250717	RGD		mRNA,protein:decreased expression:skeletal muscle	PMID:23076792|REF_RGD_ID:617212671
8838001	Homer2	homer scaffold protein 2	gene	DOID:809	cocaine abuse		ISO	RGD:620705	D	RGD:9068941	20250717	RGD			PMID:29234834|REF_RGD_ID:617212664
8838001	Homer2	homer scaffold protein 2	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1354175	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15545022
8838001	Homer2	homer scaffold protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:26467025|PMID:28492532
8838001	Homer2	homer scaffold protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8838001	Homer2	homer scaffold protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532
8838001	Homer2	homer scaffold protein 2	gene	DOID:9975	cocaine dependence		ISO	RGD:620705	D	RGD:9068941	20250717	RGD			PMID:24118426|REF_RGD_ID:617212670
8838023	Sema6b	semaphorin 6B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8838023	Sema6b	semaphorin 6B	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:731900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
8838023	Sema6b	semaphorin 6B	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:731900	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:31474318
8838023	Sema6b	semaphorin 6B	gene	DOID:0080600	COVID-19		ISO	RGD:731900	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8838023	Sema6b	semaphorin 6B	gene	DOID:10534	stomach cancer		ISO	RGD:731900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8838023	Sema6b	semaphorin 6B	gene	DOID:1059	intellectual disability		ISO	RGD:731900	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8838023	Sema6b	semaphorin 6B	gene	DOID:1324	lung cancer		ISO	RGD:731900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8838023	Sema6b	semaphorin 6B	gene	DOID:1826	epilepsy		ISO	RGD:731900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
8838023	Sema6b	semaphorin 6B	gene	DOID:1909	melanoma		ISO	RGD:731900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8838023	Sema6b	semaphorin 6B	gene	DOID:2030	anxiety disorder		ISO	RGD:731900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
8838023	Sema6b	semaphorin 6B	gene	DOID:4362	cervical cancer		ISO	RGD:731900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8838023	Sema6b	semaphorin 6B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838023	Sema6b	semaphorin 6B	gene	DOID:630	genetic disease		ISO	RGD:731900	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
8838023	Sema6b	semaphorin 6B	gene	DOID:8501	fundus dystrophy		ISO	RGD:731900	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
8838023	Sema6b	semaphorin 6B	gene	DOID:9000895	Preterm Intraventricular Hemorrhage		ISO	RGD:731900	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Grade I preterm intraventricular hemorrhage	PMID:31474318
8838023	Sema6b	semaphorin 6B	gene	DOID:9003902	Progressive Myoclonus Epilepsy 11		ISO	RGD:731900	D	RGD:7240710	20200520	OMIM			
8838023	Sema6b	semaphorin 6B	gene	DOID:9003902	Progressive Myoclonus Epilepsy 11		ISO	RGD:731900	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 11 | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 11 | ClinVar Annotator: match by term: SEMA6B-related condition	PMID:25741868|PMID:28492532|PMID:32169168|PMID:33798445|PMID:34092044|PMID:34218423|PMID:35573939|PMID:35604360|PMID:36873942
8838023	Sema6b	semaphorin 6B	gene	DOID:9004866	Ataxia		ISO	RGD:731900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ataxia	PMID:25741868
8838023	Sema6b	semaphorin 6B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838023	Sema6b	semaphorin 6B	gene	DOID:9007722	Myoclonus		ISO	RGD:731900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	
8838023	Sema6b	semaphorin 6B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
8838056	Slc25a34	solute carrier family 25 member 34	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8838056	Slc25a34	solute carrier family 25 member 34	gene	DOID:4362	cervical cancer		ISO	RGD:1606920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8838056	Slc25a34	solute carrier family 25 member 34	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838068	Zc3h11d	zinc finger CCCH-type containing 11D	gene	DOID:1909	melanoma		ISO	RGD:1605567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8838068	Zc3h11d	zinc finger CCCH-type containing 11D	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8838068	Zc3h11d	zinc finger CCCH-type containing 11D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8838103	Wwc1	WW and C2 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8838103	Wwc1	WW and C2 domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8838103	Wwc1	WW and C2 domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8838103	Wwc1	WW and C2 domain containing 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1601880	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
8838103	Wwc1	WW and C2 domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8838103	Wwc1	WW and C2 domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8838103	Wwc1	WW and C2 domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8838103	Wwc1	WW and C2 domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8838103	Wwc1	WW and C2 domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8838103	Wwc1	WW and C2 domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8838103	Wwc1	WW and C2 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838103	Wwc1	WW and C2 domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8838103	Wwc1	WW and C2 domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8838103	Wwc1	WW and C2 domain containing 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8838103	Wwc1	WW and C2 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838103	Wwc1	WW and C2 domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8838142	Cd9	CD9 molecule	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8838142	Cd9	CD9 molecule	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:732702	D	RGD:9068941	20200609	RGD			PMID:14534881|REF_RGD_ID:2326207
8838142	Cd9	CD9 molecule	gene	DOID:1380	endometrial cancer		ISO	RGD:732702	D	RGD:9068941	20200609	RGD			PMID:11505398|REF_RGD_ID:2326208
8838142	Cd9	CD9 molecule	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:732702	D	RGD:9068941	20200609	RGD		protein:decreased expression, altered localization:ovary	PMID:12079303|REF_RGD_ID:2289405
8838142	Cd9	CD9 molecule	gene	DOID:2526	prostate adenocarcinoma	disease_progression	ISO	RGD:732702	D	RGD:9068941	20200609	RGD		DNA, mRNA:deletion, point mutation, decreased expression:prostate gland	PMID:17406028|REF_RGD_ID:2326197
8838142	Cd9	CD9 molecule	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:732702	D	RGD:9068941	20200609	RGD		protein:decreased expression:urinary bladder	PMID:17393117|REF_RGD_ID:2289390
8838142	Cd9	CD9 molecule	gene	DOID:2893	cervix carcinoma	disease_progression	ISO	RGD:732702	D	RGD:9068941	20200609	RGD			PMID:14695144|REF_RGD_ID:2326206
8838142	Cd9	CD9 molecule	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:732702	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung (human)	PMID:19635508|REF_RGD_ID:5490168
8838142	Cd9	CD9 molecule	gene	DOID:3068	glioblastoma		ISO	RGD:732702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26573230
8838142	Cd9	CD9 molecule	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:732702	D	RGD:9068941	20200609	RGD			PMID:16132579|REF_RGD_ID:2326200
8838142	Cd9	CD9 molecule	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:732702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17043644
8838142	Cd9	CD9 molecule	gene	DOID:4362	cervical cancer		ISO	RGD:732702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8838142	Cd9	CD9 molecule	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8838142	Cd9	CD9 molecule	gene	DOID:5082	liver cirrhosis		ISO	RGD:732702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26396155
8838142	Cd9	CD9 molecule	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8838142	Cd9	CD9 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838142	Cd9	CD9 molecule	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:732702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16168501
8838142	Cd9	CD9 molecule	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
8838142	Cd9	CD9 molecule	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:732702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19522546
8838142	Cd9	CD9 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838142	Cd9	CD9 molecule	gene	DOID:9007456	Female Infertility		ISO	RGD:732703	D	RGD:9068941	20200609	RGD			PMID:10634790|REF_RGD_ID:734730
8838142	Cd9	CD9 molecule	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:732702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24836286
8838142	Cd9	CD9 molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
8838154	Dzip1l	DAZ interacting zinc finger protein 1 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8838154	Dzip1l	DAZ interacting zinc finger protein 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8838154	Dzip1l	DAZ interacting zinc finger protein 1 like	gene	DOID:0060058	lymphoma		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8838154	Dzip1l	DAZ interacting zinc finger protein 1 like	gene	DOID:0080273	polycystic kidney disease 5		ISO	RGD:1344571	D	RGD:7240710	20190315	OMIM			
8838154	Dzip1l	DAZ interacting zinc finger protein 1 like	gene	DOID:0080273	polycystic kidney disease 5		ISO	RGD:1344571	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: DZIP1L-related condition | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 5 | ClinVar Annotator: match by term: Polycystic kidney disease 5	PMID:25741868|PMID:28492532|PMID:28530676
8838154	Dzip1l	DAZ interacting zinc finger protein 1 like	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1344571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28530676
8838154	Dzip1l	DAZ interacting zinc finger protein 1 like	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1549981	D	RGD:9068941	20220825	MouseDO		OMIM:263200	
8838154	Dzip1l	DAZ interacting zinc finger protein 1 like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8838154	Dzip1l	DAZ interacting zinc finger protein 1 like	gene	DOID:4362	cervical cancer		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8838154	Dzip1l	DAZ interacting zinc finger protein 1 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1344571	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8838154	Dzip1l	DAZ interacting zinc finger protein 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838154	Dzip1l	DAZ interacting zinc finger protein 1 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8838154	Dzip1l	DAZ interacting zinc finger protein 1 like	gene	DOID:630	genetic disease		ISO	RGD:1344571	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8838154	Dzip1l	DAZ interacting zinc finger protein 1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838154	Dzip1l	DAZ interacting zinc finger protein 1 like	gene	DOID:9256	colorectal cancer		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:0050860	colorectal adenoma	ameliorates	ISO	RGD:1312524	D	RGD:9068941	20220204	RGD		protein:increased expression:colorectal mucosa (human)	PMID:19156145|REF_RGD_ID:151347861
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312524	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:0060058	lymphoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:0070681	congenital hydrocephalus		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hydrocephalus	PMID:25741868|PMID:29983323
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:0080199	colorectal carcinoma	exacerbates	ISO	RGD:1312524	D	RGD:9068941	20220204	RGD		protein:increased expression:colorectum (human)	PMID:30144500|REF_RGD_ID:151347859
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:1115	sarcoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:1909	melanoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:299	adenocarcinoma		ISO	RGD:1312524	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552421
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:3275	thymoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1312524	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:4362	cervical cancer		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:1312524	D	RGD:9068941	20210625	RGD			PMID:33532313|REF_RGD_ID:127285652
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:630	genetic disease		ISO	RGD:1312524	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:37639281
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1312524	D	RGD:9068941	20220204	RGD		mRNA, protein:increased expression:liver (human)	PMID:32514535|REF_RGD_ID:151347860
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1312524	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:9002758	Congenital Hydrocephalus 5		ISO	RGD:1312524	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL, 5, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hydrocephalus, congenital, 5, susceptibility to | ClinVar Annotator: match by term: SMARCC1-associated developmental dysgenesis syndrome | ClinVar Annotator: match by term: SMARCC1-related disorder	PMID:25741868
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:9002758	Congenital Hydrocephalus 5	susceptibility	ISO	RGD:1312524	D	RGD:7240710	20230505	OMIM			
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1312524	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552421
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1312524	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:9008840	DNA Repair-Deficiency Disorders		ISO	RGD:1312524	D	RGD:9068941	20220204	RGD		associated with gastric carcinoma;protein:decreased expression:stomach (human)	PMID:31922331|REF_RGD_ID:126848759
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8838233	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:9256	colorectal cancer		ISO	RGD:1312524	D	RGD:9068941	20220204	RGD		RNA:increased expression:colorectum (human)	PMID:32606978|REF_RGD_ID:151347862
8838271	Nudt15	nudix hydrolase 15	gene	DOID:0060996	poor metabolism of thiopurines 2		ISO	RGD:1317982	D	RGD:7240710	20190315	OMIM			
8838271	Nudt15	nudix hydrolase 15	gene	DOID:0060996	poor metabolism of thiopurines 2		ISO	RGD:1317982	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: NUDT15-related condition | ClinVar Annotator: match by term: THIOPURINES, POOR METABOLISM OF, 2	PMID:22992668|PMID:25108385|PMID:25624441|PMID:26033531|PMID:26076924|PMID:26405151|PMID:26503813|PMID:26590936|PMID:26735160|PMID:26878724|PMID:27095468|PMID:27193222|PMID:27416873|PMID:27558924|PMID:27577869|PMID:27604507|PMID:28088792|PMID:28146264|PMID:28418010|PMID:28445187|PMID:28659275|PMID:29702976|PMID:29704867|PMID:29720126|PMID:29867468|PMID:29923122|PMID:29967377|PMID:30035323|PMID:30048756|PMID:30101994|PMID:30728528|PMID:31024313
8838271	Nudt15	nudix hydrolase 15	gene	DOID:1227	neutropenia		ISO	RGD:1317983	D	RGD:9068941	20240307	MouseDO			
8838271	Nudt15	nudix hydrolase 15	gene	DOID:12450	pancytopenia		ISO	RGD:1317983	D	RGD:9068941	20240307	MouseDO			
8838271	Nudt15	nudix hydrolase 15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8838271	Nudt15	nudix hydrolase 15	gene	DOID:615	leukopenia		ISO	RGD:1317983	D	RGD:9068941	20240307	MouseDO			
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:0050567	orofacial cleft		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:25741868|PMID:28492532
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:0060058	lymphoma		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:0110336	osteogenesis imperfecta type 8		ISO	RGD:1602868	D	RGD:7240710	20180130	OMIM			
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:0110336	osteogenesis imperfecta type 8		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE VIII | ClinVar Annotator: match by term: Osteogenesis imperfecta type 8 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type VIII | ClinVar Annotator: match by term: P3H1-related condition	PMID:16199547|PMID:17277775|PMID:17576681|PMID:18566967|PMID:19088120|PMID:21667357|PMID:22281939|PMID:22344438|PMID:22615817|PMID:23613367|PMID:24498616|PMID:25741868|PMID:26634552|PMID:27383115|PMID:27509835|PMID:27864101|PMID:28492532|PMID:29150909|PMID:29329516|PMID:29499418|PMID:29620724|PMID:31429852|PMID:32123938|PMID:33093841|PMID:33470886|PMID:33737016|PMID:35052464|PMID:35327962|PMID:3545499|PMID:36833249|PMID:36963805|PMID:37270749|PMID:39025364|PMID:9536098
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:0110339	osteogenesis imperfecta type 3		ISO	RGD:1602868	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta type III	PMID:22615817|PMID:25741868|PMID:27864101|PMID:28492532|PMID:32770541
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602868	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:1115	sarcoma		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:11830	myopia		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1602868	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:17277775|PMID:17576681|PMID:18566967|PMID:19088120|PMID:22281939|PMID:24498616|PMID:25741868|PMID:26634552|PMID:28492532|PMID:31319225|PMID:9536098
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:16199547|PMID:17277775|PMID:17576681|PMID:18566967|PMID:19088120|PMID:22281939|PMID:24498616|PMID:25741868|PMID:26634552|PMID:27509835|PMID:28492532|PMID:29150909|PMID:29595812|PMID:31319225|PMID:32123317|PMID:33737016|PMID:3545499|PMID:36833249|PMID:39252027|PMID:9536098
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1602868	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:17277775|PMID:17576681|PMID:18566967|PMID:19088120|PMID:22281939|PMID:24498616|PMID:25741868|PMID:26634552|PMID:28492532|PMID:29595812|PMID:31319225|PMID:32123317|PMID:33737016|PMID:3545499|PMID:36833249|PMID:39252027|PMID:9536098
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:1324	lung cancer		ISO	RGD:1602868	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:1596	depressive disorder		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:3275	thymoma		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602868	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602868	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602868	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:630	genetic disease		ISO	RGD:1602868	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Miscarriage	PMID:16199547|PMID:17277775|PMID:18566967|PMID:19088120|PMID:21667357|PMID:22281939|PMID:25741868|PMID:28492532
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
8838317	P3h1	prolyl 3-hydroxylase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1602868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
8838344	Ncstn	nicastrin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8838344	Ncstn	nicastrin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8838344	Ncstn	nicastrin	gene	DOID:0081292	traumatic brain injury		ISO	RGD:1551174	D	RGD:9068941	20200609	RGD			PMID:18240300|REF_RGD_ID:13801189
8838344	Ncstn	nicastrin	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1351739	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17192785
8838344	Ncstn	nicastrin	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1351739	D	RGD:9068941	20200609	RGD			PMID:23595812|REF_RGD_ID:13801187
8838344	Ncstn	nicastrin	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1351739	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-922G>T (rs10752637) (human)	PMID:19840113|REF_RGD_ID:13801048
8838344	Ncstn	nicastrin	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1351739	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-796T>G, -1216C>A (human)	PMID:19394408|REF_RGD_ID:13801050
8838344	Ncstn	nicastrin	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1351739	D	RGD:9068941	20200609	RGD		protein:increased modification:brain	PMID:22404891|REF_RGD_ID:13801051
8838344	Ncstn	nicastrin	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:1351739	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-436C>T (human)	PMID:19394408|REF_RGD_ID:13801050
8838344	Ncstn	nicastrin	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:1351739	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-796T>G, -1216C>A (human)	PMID:15157994|REF_RGD_ID:13801049
8838344	Ncstn	nicastrin	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:1351739	D	RGD:9068941	20200609	RGD		DNA:missense mutation, SNPs:exon, intron, 3' utr:multiple	PMID:14642438|REF_RGD_ID:13801188
8838344	Ncstn	nicastrin	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:1351739	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :417N>Y (human)	PMID:11992262|REF_RGD_ID:13801052
8838344	Ncstn	nicastrin	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:1351739	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:introns:multiple	PMID:11992262|REF_RGD_ID:13801052
8838344	Ncstn	nicastrin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8838344	Ncstn	nicastrin	gene	DOID:1574	alcohol use disorder		ISO	RGD:631418	D	RGD:9068941	20250313	RGD		protein:increased expression:striatum	PMID:21345314|REF_RGD_ID:597830177
8838344	Ncstn	nicastrin	gene	DOID:1909	melanoma		ISO	RGD:1351739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8838344	Ncstn	nicastrin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8838344	Ncstn	nicastrin	gene	DOID:4362	cervical cancer		ISO	RGD:1351739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8838344	Ncstn	nicastrin	gene	DOID:5419	schizophrenia		ISO	RGD:1351739	D	RGD:9068941	20200609	RGD		DNA:SNP:5' utr:rs1802778 (human)	PMID:27008863|REF_RGD_ID:11536124
8838344	Ncstn	nicastrin	gene	DOID:5419	schizophrenia		ISO	RGD:1351739	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :417N>Y (human)	PMID:21364883|REF_RGD_ID:13801053
8838344	Ncstn	nicastrin	gene	DOID:5419	schizophrenia		ISO	RGD:1551174	D	RGD:9068941	20200609	RGD			PMID:27008863|REF_RGD_ID:11536124
8838344	Ncstn	nicastrin	gene	DOID:5419	schizophrenia		ISO	RGD:1551174	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
8838344	Ncstn	nicastrin	gene	DOID:5419	schizophrenia	no_association	ISO	RGD:1351739	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:21364883|PMID:27008863|REF_RGD_ID:11536124|REF_RGD_ID:13801053
8838344	Ncstn	nicastrin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8838344	Ncstn	nicastrin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838344	Ncstn	nicastrin	gene	DOID:630	genetic disease		ISO	RGD:1351739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8838344	Ncstn	nicastrin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8838344	Ncstn	nicastrin	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1551174	D	RGD:9068941	20220825	MouseDO		OMIM:608232	
8838344	Ncstn	nicastrin	gene	DOID:9003136	Familial Acne Inversa 1		ISO	RGD:1351739	D	RGD:7240710	20210721	OMIM			
8838344	Ncstn	nicastrin	gene	DOID:9003136	Familial Acne Inversa 1		ISO	RGD:1351739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACNE INVERSA, FAMILIAL, 1 | ClinVar Annotator: match by term: Acne inversa, familial, 1 | ClinVar Annotator: match by term: NCSTN-related condition | ClinVar Annotator: match by term: acne inversa, familial, 1	PMID:17576681|PMID:20929727|PMID:22358060|PMID:25693063|PMID:25741868|PMID:26463457|PMID:28492532|PMID:9536098
8838344	Ncstn	nicastrin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838344	Ncstn	nicastrin	gene	DOID:9008895	Familial Hidradenitis Suppurativa		ISO	RGD:1351739	D	RGD:9068941	20210723	CTD		CTD Direct Evidence: marker/mechanism	PMID:20929727
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:0050562	West syndrome		ISO	RGD:731754	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: West syndrome	PMID:25741868|PMID:26740508|PMID:27541642|PMID:28191890|PMID:28492532|PMID:28856709
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:0050741	alcohol dependence		ISO	RGD:619864	D	RGD:9068941	20231228	RGD		mRNA:decreased expression:hippocampus (rat)	PMID:22253714|REF_RGD_ID:401900163
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:0050742	nicotine dependence		ISO	RGD:731754	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: CIGARETTE HABITUATION, SUSCEPTIBILITY TO	PMID:25741868|PMID:28492532
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:731754	D	RGD:7240710	20260729	OMIM			
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:731754	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:0080291	developmental and epileptic encephalopathy 59		ISO	RGD:731754	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 59 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 59 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 59	PMID:25741868|PMID:26740508|PMID:27541642|PMID:28191890|PMID:28492532|PMID:28856709|PMID:29100083|PMID:32860008|PMID:33057194|PMID:33144682|PMID:35414446
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:0080291	developmental and epileptic encephalopathy 59	susceptibility	ISO	RGD:731754	D	RGD:7240710	20260729	OMIM			
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:1059	intellectual disability		ISO	RGD:731754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:26740508|PMID:27541642|PMID:28191890|PMID:28492532|PMID:28856709|PMID:29100083
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:1059	intellectual disability		ISO	RGD:731754	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:10907	microcephaly		ISO	RGD:731754	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:26740508|PMID:27541642|PMID:28191890|PMID:28492532|PMID:28856709
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:731754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:1206	Rett syndrome		ISO	RGD:731754	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rett syndrome	PMID:25741868|PMID:26740508|PMID:27541642|PMID:28191890|PMID:28492532|PMID:28856709
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:12215	oligohydramnios		ISO	RGD:731754	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868|PMID:26740508|PMID:27541642|PMID:28191890|PMID:28492532|PMID:28856709
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:12849	autistic disorder		ISO	RGD:731754	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19002745
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:1574	alcohol use disorder	susceptibility	ISO	RGD:731754	D	RGD:9068941	20231228	RGD		DNA:SNP:intron: (rs2900512) (human)	PMID:28118741|REF_RGD_ID:401940105
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:1826	epilepsy		ISO	RGD:731754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizures	
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:731754	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:16199547|PMID:17576681|PMID:25741868|PMID:26740508|PMID:27541642|PMID:28492532|PMID:28856709|PMID:29100083|PMID:32860008|PMID:33057194|PMID:34055682|PMID:35414446|PMID:35982159|PMID:9536098
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:731754	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:16199547|PMID:17576681|PMID:21270786|PMID:25741868|PMID:26740508|PMID:27541642|PMID:27981572|PMID:28492532|PMID:28856709|PMID:29100083|PMID:32860008|PMID:33057194|PMID:34055682|PMID:35414446|PMID:35982159|PMID:9536098
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:731754	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalised epilepsy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:16199547|PMID:17576681|PMID:25741868|PMID:26740508|PMID:27541642|PMID:28191890|PMID:28492532|PMID:28856709|PMID:29100083|PMID:33057194|PMID:35982159|PMID:9536098
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:731754	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:16199547|PMID:17576681|PMID:25741868|PMID:26740508|PMID:27541642|PMID:28191890|PMID:28492532|PMID:28856709|PMID:33057194|PMID:35982159|PMID:9536098
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:3070	high grade glioma		ISO	RGD:731754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:543	dystonia		ISO	RGD:731754	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:26740508|PMID:27541642|PMID:28191890|PMID:28492532|PMID:28856709
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:630	genetic disease		ISO	RGD:731754	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26740508|PMID:27541642|PMID:28191890|PMID:28492532|PMID:28856709|PMID:38076211
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:9002134	Heart Murmurs		ISO	RGD:731754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:28492532
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731754	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:26740508|PMID:27541642|PMID:28191890|PMID:28492532|PMID:28856709
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731754	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:26740508|PMID:27541642|PMID:28191890|PMID:28492532|PMID:28856709
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:9009154	Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills		ISO	RGD:731754	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | ClinVar Annotator: match by term: Neurodevelopmental disorder with poor language and loss of hand skills	PMID:25741868|PMID:26740508|PMID:27541642|PMID:28191890|PMID:28492532|PMID:28856709|PMID:29369404|PMID:34008892|PMID:35414446
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:9009154	Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills	susceptibility	ISO	RGD:731754	D	RGD:7240710	20260729	OMIM			
8838365	Gabbr2	gamma-aminobutyric acid type B receptor subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
8838389	Nhlrc3	NHL repeat containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1605503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8838389	Nhlrc3	NHL repeat containing 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8838389	Nhlrc3	NHL repeat containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1605503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8838389	Nhlrc3	NHL repeat containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8838389	Nhlrc3	NHL repeat containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1605503	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8838389	Nhlrc3	NHL repeat containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838389	Nhlrc3	NHL repeat containing 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
8838389	Nhlrc3	NHL repeat containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838389	Nhlrc3	NHL repeat containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8838413	Cdx1	caudal type homeobox 1	gene	DOID:1324	lung cancer		ISO	RGD:1321203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0050567	orofacial cleft		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:25741868
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0050581	brachydactyly		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0050840	cervical dystonia		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868|PMID:29758562|PMID:37158195|PMID:39039281
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1343133	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0051061	stroke		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stroke	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1343133	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0060321	umbilical hernia		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0080233	autosomal dominant intellectual developmental disorder 50		ISO	RGD:1343133	D	RGD:7240710	20190315	OMIM			
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0080233	autosomal dominant intellectual developmental disorder 50		ISO	RGD:1343133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: NAA15-related condition | ClinVar Annotator: match by term: NAA15-related syndrome	PMID:23665959|PMID:25741868|PMID:28191889|PMID:28303347|PMID:28492532|PMID:29656860|PMID:29758562|PMID:30792901|PMID:31130284|PMID:33103328|PMID:33149276|PMID:36475376|PMID:37158195|PMID:39039281
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0080855	Parkinsonism		ISO	RGD:1343133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:30792901|PMID:33149276|PMID:36475376|PMID:39039281
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:29758562|PMID:30792901|PMID:31130284|PMID:33149276|PMID:37158195|PMID:39039281
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1343133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:29758562|PMID:30792901|PMID:31130284|PMID:33149276|PMID:36475376|PMID:37158195|PMID:39039281
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:10907	microcephaly		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:29758562|PMID:37158195|PMID:39039281
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:11111	hydronephrosis		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1115	sarcoma		ISO	RGD:1343133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:11193	syndactyly		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-syndromic syndactyly	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:11383	cryptorchidism		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1148	polydactyly		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:11836	clubfoot		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:29758562|PMID:37158195|PMID:39039281
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:12849	autistic disorder		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:29758562|PMID:37158195|PMID:39039281
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1324	lung cancer		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1657	ventricular septal defect		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1826	epilepsy		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:2234	focal epilepsy		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:31130284
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:2340	craniosynostosis		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:23665959|PMID:25741868|PMID:26785492|PMID:28191889|PMID:28990276
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:2978	carbohydrate metabolic disorder		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of mucopolysaccharide metabolism	PMID:25741868
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1343133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:30792901|PMID:33149276|PMID:36475376|PMID:39039281
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:3310	atopic dermatitis		ISO	RGD:1343133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:30792901|PMID:33149276|PMID:36475376|PMID:39039281
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1343133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:540	strabismus		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:543	dystonia		ISO	RGD:1343133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:30792901|PMID:33149276|PMID:36475376|PMID:39039281
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:630	genetic disease		ISO	RGD:1343133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:29758562|PMID:30564305|PMID:30792901|PMID:33149276|PMID:36475376|PMID:37158195|PMID:39039281
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:674	cleft palate		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868|PMID:28492532
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9002580	Metatarsus Varus		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metatarsus adductus	PMID:25741868|PMID:29758562|PMID:37158195|PMID:39039281
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28191889|PMID:29656860
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9003507	Premature Birth		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:29758562|PMID:37158195|PMID:39039281
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:28191889|PMID:29656860
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9007373	Left Ventricular Outflow Obstruction		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular outflow tract obstruction	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9007388	Heterochromia Iridis		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heterochromia iridis	PMID:25741868
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9007661	Dwarfism		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:29758562|PMID:37158195|PMID:39039281
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9008582	Developmental Disease		ISO	RGD:1343133	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
8838420	Naa15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9970	obesity		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:29758562
8838452	Ipmk	inositol polyphosphate multikinase	gene	DOID:1909	melanoma		ISO	RGD:737355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8838452	Ipmk	inositol polyphosphate multikinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838452	Ipmk	inositol polyphosphate multikinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838452	Ipmk	inositol polyphosphate multikinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8838468	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:3007	breast ductal carcinoma		ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		human cells in mouse model	PMID:20978191|REF_RGD_ID:152995469
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:0050861	colorectal adenocarcinoma	disease_progression	ISO	RGD:1604194	D	RGD:9068941	20220630	RGD		protein:increased expression:colon (human)	PMID:27729429|REF_RGD_ID:152995521
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		associated with Lymphatic Metastasis;protein:increased expression:gastric tumor, lymph node (human)	PMID:32588907|REF_RGD_ID:152995444
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		protein:increased expression:gastric tumor (human)	PMID:26159923|REF_RGD_ID:152995448
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:1115	sarcoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:1324	lung cancer		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:1909	melanoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:219	colon cancer		ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		protein:increased expression:colon (human)	PMID:24244675|REF_RGD_ID:152995458
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:219	colon cancer		ISO	RGD:1604194	D	RGD:9068941	20220630	RGD		human cells in mouse model	PMID:20226010|REF_RGD_ID:152995494
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:219	colon cancer	severity	ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		mRNA:increased expression:colon (human)	PMID:31932471|REF_RGD_ID:152995462
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:3121	gallbladder cancer		ISO	RGD:1604194	D	RGD:9068941	20220630	RGD		DNA:CNV, amplification:exon (human)	PMID:24508317|REF_RGD_ID:152995522
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:3275	thymoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:3319	lymphangioleiomyomatosis		ISO	RGD:1604194	D	RGD:9068941	20220630	RGD		protein:increased expression:lung (human)	PMID:29885404|REF_RGD_ID:152995523
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		human cells in mouse model	PMID:30119206|REF_RGD_ID:152995460
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:1604194	D	RGD:9068941	20220630	RGD		protein:increased expression:esophagus (human)	PMID:32642408|REF_RGD_ID:152995512
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:3748	esophagus squamous cell carcinoma	severity	ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		protein:increased expression:esophagus (human)	PMID:28132115|REF_RGD_ID:152995470
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604194	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:5409	lung small cell carcinoma	severity	ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		associated with Neoplasm Metastasis; protein:increased expression:lung, lymph node (human)	PMID:31454632|REF_RGD_ID:152995447
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:5409	lung small cell carcinoma	severity	ISO	RGD:1604194	D	RGD:9068941	20220630	RGD		DNA:CNV, amplification:exon (human)	PMID:27863413|REF_RGD_ID:152995517
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1604194	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:630	genetic disease		ISO	RGD:1604194	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		mRNA, protein:increased expression:liver (human)	PMID:25371154|REF_RGD_ID:152995471
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:8649	tongue cancer	disease_progression	ISO	RGD:1604194	D	RGD:9068941	20220630	RGD		protein:increased expression:tongue (human)	PMID:25749387|REF_RGD_ID:152995520
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		associated with breast ductal carcinoma; protein:increased expression:breast tumor, lymph node (human)	PMID:20978191|REF_RGD_ID:152995469
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:9002170	Experimental Neoplasms	disease_progression	ISO	RGD:1556939	D	RGD:9068941	20220623	RGD			PMID:24244675|REF_RGD_ID:152995458
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:9006618	Liver Metastasis		ISO	RGD:1556939	D	RGD:9068941	20220623	RGD			PMID:30404068|REF_RGD_ID:152995463
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:9006618	Liver Metastasis	disease_progression	ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		mRNA:increased expression:liver (human)	PMID:30404068|REF_RGD_ID:152995463
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:9009121	lung metastasis		ISO	RGD:1556939	D	RGD:9068941	20220630	RGD			PMID:29809146|REF_RGD_ID:152995516
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:9009121	lung metastasis		ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		human cells in mouse model	PMID:20978191|REF_RGD_ID:152995469
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8838468	Rictor	RPTOR independent companion of MTOR complex 2	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1604194	D	RGD:9068941	20220630	RGD		associated with Lymphatic Metastasis; protein:increased expression:colon (human)	PMID:27063170|REF_RGD_ID:152995519
8838524	Ckap4	cytoskeleton associated protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8838524	Ckap4	cytoskeleton associated protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838524	Ckap4	cytoskeleton associated protein 4	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1323735	D	RGD:9068941	20220616	RGD		associated with tumor vascularization; mRNA,protein:increased expression:liver tumor (human)	PMID:30901224|REF_RGD_ID:152995286
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:26158642|PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1353510	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form | ClinVar Annotator: match by term: SFTPA2-related condition	PMID:15814878|PMID:15885610|PMID:16247010|PMID:16627250|PMID:16990594|PMID:17460043|PMID:17576681|PMID:18042801|PMID:18460650|PMID:18635888|PMID:18931339|PMID:19561322|PMID:19674077|PMID:19760749|PMID:20301779|PMID:20502709|PMID:20858879|PMID:21436073|PMID:21483807|PMID:21520174|PMID:21602826|PMID:22424236|PMID:22853774|PMID:23538340|PMID:23716176|PMID:23901009|PMID:24033266|PMID:24763404|PMID:24833766|PMID:24983628|PMID:25346280|PMID:25365545|PMID:25562321|PMID:25741868|PMID:25785092|PMID:26024875|PMID:26136524|PMID:26329388|PMID:26365799|PMID:26580448|PMID:26859482|PMID:26887940|PMID:27192671|PMID:27418648|PMID:27540018|PMID:27848944|PMID:28104920|PMID:28154186|PMID:28492532|PMID:28813500|PMID:29036293|PMID:29483670|PMID:30426156|PMID:30523342|PMID:30791107|PMID:31268371|PMID:33709208|PMID:33850299|PMID:34019641|PMID:34482403|PMID:34565437|PMID:34890115|PMID:35078193|PMID:35106810|PMID:35776903|PMID:35927969|PMID:36622818|PMID:37096215|PMID:37944684|PMID:9536098
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1353510	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form	PMID:15814878|PMID:16199547|PMID:16247010|PMID:17392301|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20502709|PMID:20966039|PMID:21258621|PMID:21349926|PMID:21436073|PMID:21483807|PMID:21520173|PMID:21520174|PMID:21635204|PMID:21931702|PMID:22364217|PMID:22476886|PMID:22664374|PMID:22853774|PMID:23258901|PMID:23538340|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24763404|PMID:24833766|PMID:24983628|PMID:25108601|PMID:25346280|PMID:25562321|PMID:25612863|PMID:25741868|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26329388|PMID:26365799|PMID:26580448|PMID:26859482|PMID:26887940|PMID:27159321|PMID:27540018|PMID:28102861|PMID:28154186|PMID:28192371|PMID:28492532|PMID:28767289|PMID:28813500|PMID:29036293|PMID:29141224|PMID:29483670|PMID:29891356|PMID:30088779|PMID:30426156|PMID:30523342|PMID:30791107|PMID:30995915|PMID:31213647|PMID:31268371|PMID:32076714|PMID:32150348|PMID:33709208|PMID:33718801|PMID:34019641|PMID:34565437|PMID:34580961|PMID:35106810|PMID:35155181|PMID:35776903|PMID:36028256|PMID:36542832|PMID:36622818|PMID:37096215|PMID:37397566|PMID:37665761|PMID:37944684|PMID:38641551|PMID:39198715|PMID:39279213|PMID:39316766|PMID:40888375|PMID:9536098
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0050685	small cell carcinoma	susceptibility	ISO	RGD:1353510	D	RGD:9068941	20211217	RGD		DNA:SNP: :rs2736098(human)	PMID:24761905|REF_RGD_ID:150530628
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0050866	oral squamous cell carcinoma	susceptibility	ISO	RGD:1353510	D	RGD:9068941	20211217	RGD		DNA:SNPs: :rs2736100,rs2736098(human)	PMID:28025427|REF_RGD_ID:150530487
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1353510	D	RGD:9068941	20260709	RGD		mRNA:splice variants:cds	PMID:24844605|REF_RGD_ID:11038659
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0050908	myelodysplastic syndrome	severity	ISO	RGD:1353510	D	RGD:9068941	20200609	RGD			PMID:19270495|REF_RGD_ID:11038661
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:breast	PMID:15010825|REF_RGD_ID:2291992
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0060645	chronic recurrent multifocal osteomyelitis		ISO	RGD:1353510	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Chronic osteomyelitis	PMID:25741868|PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0060971	interstitial lung disease 2		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Interstitial lung disease 2	PMID:15814878|PMID:16199547|PMID:16247010|PMID:17392301|PMID:17460043|PMID:18302718|PMID:18460650|PMID:19561322|PMID:19760749|PMID:20301779|PMID:20502709|PMID:21436073|PMID:22853774|PMID:23901009|PMID:24033266|PMID:24833766|PMID:25346280|PMID:25741868|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26365799|PMID:26859482|PMID:28154186|PMID:28492532|PMID:28813500|PMID:29036293|PMID:29483670|PMID:30088779|PMID:30523342|PMID:30791107|PMID:31268371|PMID:34019641|PMID:35155181|PMID:35776903|PMID:36028256|PMID:39316766
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1353510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29047144
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0070014	autosomal dominant dyskeratosis congenita 1		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita Scoggins type | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1	PMID:15814878|PMID:16247010|PMID:17460043|PMID:19561322|PMID:20301779|PMID:21436073|PMID:23901009|PMID:24033266|PMID:24833766|PMID:25346280|PMID:25741868|PMID:26136524|PMID:26158642|PMID:26365799|PMID:28154186|PMID:28492532|PMID:28813500|PMID:29036293|PMID:29483670|PMID:30088779|PMID:30523342|PMID:30791107|PMID:31268371|PMID:34019641|PMID:35155181|PMID:35776903|PMID:36028256|PMID:39316766
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0070015	autosomal recessive dyskeratosis congenita 1		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1	PMID:17785587|PMID:20301779|PMID:25741868|PMID:26887940|PMID:28192371|PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0070016	autosomal dominant dyskeratosis congenita 2		ISO	RGD:1353510	D	RGD:7240710	20180919	OMIM			
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0070016	autosomal dominant dyskeratosis congenita 2		ISO	RGD:1353510	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2	PMID:12629597|PMID:15814878|PMID:16199547|PMID:16247010|PMID:17392301|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20502709|PMID:20966039|PMID:21258621|PMID:21349926|PMID:21436073|PMID:21483807|PMID:21520173|PMID:21520174|PMID:21635204|PMID:21931702|PMID:22364217|PMID:22476886|PMID:22664374|PMID:22853774|PMID:23258901|PMID:23335200|PMID:23348503|PMID:23348506|PMID:23530248|PMID:23538340|PMID:23764841|PMID:23901009|PMID:23905534|PMID:24030752|PMID:24033266|PMID:24154961|PMID:24174164|PMID:24260374|PMID:24337442|PMID:24705251|PMID:24763404|PMID:24833766|PMID:24983628|PMID:25108601|PMID:25217772|PMID:25244922|PMID:25268584|PMID:25314060|PMID:25346280|PMID:25562321|PMID:25612863|PMID:25640679|PMID:25741868|PMID:25862495|PMID:25977370|PMID:26024875|PMID:26061751|PMID:26061753|PMID:26136524|PMID:26143634|PMID:26143636|PMID:26158642|PMID:26171145|PMID:26194807|PMID:26329388|PMID:26365799|PMID:26466568|PMID:26523776|PMID:26580448|PMID:26859482|PMID:26875008|PMID:26887940|PMID:26941407|PMID:27159321|PMID:27442865|PMID:27540018|PMID:27824607|PMID:27836952|PMID:27993330|PMID:28102861|PMID:28154186|PMID:28181325|PMID:28192371|PMID:28284778|PMID:28401334|PMID:28467829|PMID:28481359|PMID:28492532|PMID:28726821|PMID:28767289|PMID:28813500|PMID:28912153|PMID:28966033|PMID:28990704|PMID:29036293|PMID:29105198|PMID:29141224|PMID:29281671|PMID:29449679|PMID:29463756|PMID:29483670|PMID:29532523|PMID:29749397|PMID:29763623|PMID:29891356|PMID:29987895|PMID:30051528|PMID:30088779|PMID:30165166|PMID:30178487|PMID:30240866|PMID:30426156|PMID:30523111|PMID:30523342|PMID:30599247|PMID:30791107|PMID:30995915|PMID:31147264|PMID:31213647|PMID:31268371|PMID:31408918|PMID:31789679|PMID:31837177|PMID:32076714|PMID:32150348|PMID:32226942|PMID:32291317|PMID:32315675|PMID:32619305|PMID:32782671|PMID:32923861|PMID:33035329|PMID:33056981|PMID:33543147|PMID:33709208|PMID:33718801|PMID:33753552|PMID:33994539|PMID:34019641|PMID:34103665|PMID:34411449|PMID:34565437|PMID:34580961|PMID:35078193|PMID:35101336|PMID:35106810|PMID:35155181|PMID:35535848|PMID:35705560|PMID:35776903|PMID:36028256|PMID:36505786|PMID:36542832|PMID:36622818|PMID:37096215|PMID:37296851|PMID:37397566|PMID:37665761|PMID:37871653|PMID:37944684|PMID:38016019|PMID:38053410|PMID:38641551|PMID:39198715|PMID:39279213|PMID:39316766|PMID:39592485|PMID:39748130|PMID:40888375|PMID:9536098
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0070021	autosomal recessive dyskeratosis congenita 4		ISO	RGD:1353510	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive dyskeratosis congenita 4 | ClinVar Annotator: match by term: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4	PMID:15814878|PMID:17785587|PMID:18042801|PMID:18753630|PMID:18931339|PMID:20301779|PMID:21258621|PMID:23901009|PMID:23905534|PMID:24033266|PMID:25741868|PMID:26887940|PMID:28192371|PMID:28492532|PMID:30603600|PMID:36769106
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0070022	autosomal recessive dyskeratosis congenita 5		ISO	RGD:1353510	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5	PMID:25741868
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:70505	D	RGD:9068941	20200609	RGD		mRNA,protein,activity:increased expression, increased activity:kupffer cell:	PMID:26725521|REF_RGD_ID:11574970
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0080369	ovarian sex-cord stromal tumor		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian sex cord-stromal tumor	PMID:23348503|PMID:23348506|PMID:23530248|PMID:23764841|PMID:24030752|PMID:24154961|PMID:24174164|PMID:24260374|PMID:24337442|PMID:24705251|PMID:25217772|PMID:25268584|PMID:25314060|PMID:25741868|PMID:25862495|PMID:25977370|PMID:26061751|PMID:26061753|PMID:26143634|PMID:26143636|PMID:26171145|PMID:26194807|PMID:26466568|PMID:26523776|PMID:26875008|PMID:26941407|PMID:27442865|PMID:27993330|PMID:28181325|PMID:28284778|PMID:28401334|PMID:28467829|PMID:28481359|PMID:28726821|PMID:28912153|PMID:28966033|PMID:28990704|PMID:29105198|PMID:29449679|PMID:29532523|PMID:29763623|PMID:29987895|PMID:30051528|PMID:30165166|PMID:30178487|PMID:30240866|PMID:30523111|PMID:30599247|PMID:31147264|PMID:31408918|PMID:31789679|PMID:31837177|PMID:32226942|PMID:32291317|PMID:32619305|PMID:32782671|PMID:33056981|PMID:33543147|PMID:33753552|PMID:33994539|PMID:34103665|PMID:34411449|PMID:35101336|PMID:35535848|PMID:35705560|PMID:36505786|PMID:37296851|PMID:37871653|PMID:38016019|PMID:38053410|PMID:39592485
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0080413	developmental and epileptic encephalopathy 18		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 18	PMID:17296728|PMID:25741868|PMID:35792504
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0080600	COVID-19		ISO	RGD:1353510	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease COVID-19	PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27M-mutant	PMID:23348503|PMID:23348506|PMID:23530248|PMID:23764841|PMID:24030752|PMID:24154961|PMID:24174164|PMID:24260374|PMID:24337442|PMID:24705251|PMID:25217772|PMID:25268584|PMID:25314060|PMID:25741868|PMID:25862495|PMID:25977370|PMID:26061751|PMID:26061753|PMID:26143634|PMID:26143636|PMID:26171145|PMID:26194807|PMID:26466568|PMID:26523776|PMID:26875008|PMID:26941407|PMID:27442865|PMID:27993330|PMID:28181325|PMID:28284778|PMID:28401334|PMID:28467829|PMID:28481359|PMID:28726821|PMID:28912153|PMID:28966033|PMID:28990704|PMID:29105198|PMID:29449679|PMID:29532523|PMID:29763623|PMID:29987895|PMID:30051528|PMID:30165166|PMID:30178487|PMID:30240866|PMID:30523111|PMID:30599247|PMID:31147264|PMID:31408918|PMID:31789679|PMID:31837177|PMID:32226942|PMID:32291317|PMID:32619305|PMID:32782671|PMID:33056981|PMID:33543147|PMID:33753552|PMID:33994539|PMID:34103665|PMID:34411449|PMID:35101336|PMID:35535848|PMID:35705560|PMID:36505786|PMID:37296851|PMID:37871653|PMID:38016019|PMID:38053410|PMID:39592485
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:23348503|PMID:23348506|PMID:23530248|PMID:23764841|PMID:23887589|PMID:24030752|PMID:24154961|PMID:24174164|PMID:24260374|PMID:24337442|PMID:24657534|PMID:24705251|PMID:25217772|PMID:25268584|PMID:25314060|PMID:25741868|PMID:25862495|PMID:25977370|PMID:26061751|PMID:26061753|PMID:26143634|PMID:26143636|PMID:26171145|PMID:26194807|PMID:26443480|PMID:26466568|PMID:26523776|PMID:26875008|PMID:26941407|PMID:27442865|PMID:27993330|PMID:28181325|PMID:28284778|PMID:28401334|PMID:28467829|PMID:28481359|PMID:28726821|PMID:28912153|PMID:28966033|PMID:28990704|PMID:29105198|PMID:29449679|PMID:29532523|PMID:29763623|PMID:29987895|PMID:30051528|PMID:30165166|PMID:30178487|PMID:30240866|PMID:30523111|PMID:30599247|PMID:30861589|PMID:31147264|PMID:31408918|PMID:31789679|PMID:31837177|PMID:32226942|PMID:32291317|PMID:32619305|PMID:32642724|PMID:32782671|PMID:33056981|PMID:33543147|PMID:33753552|PMID:33994539|PMID:34103665|PMID:34411449|PMID:34952640|PMID:35101336|PMID:35535848|PMID:35705560|PMID:36505786|PMID:37296851|PMID:37871653|PMID:38016019|PMID:38053410|PMID:39592485
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0080703	medulloblastoma SHH activated		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated	PMID:23348503|PMID:23348506|PMID:23530248|PMID:23764841|PMID:24030752|PMID:24154961|PMID:24174164|PMID:24260374|PMID:24337442|PMID:24705251|PMID:25217772|PMID:25268584|PMID:25314060|PMID:25741868|PMID:25862495|PMID:25977370|PMID:26061751|PMID:26061753|PMID:26143634|PMID:26143636|PMID:26171145|PMID:26194807|PMID:26466568|PMID:26523776|PMID:26875008|PMID:26941407|PMID:27442865|PMID:27993330|PMID:28181325|PMID:28284778|PMID:28401334|PMID:28467829|PMID:28481359|PMID:28726821|PMID:28912153|PMID:28966033|PMID:28990704|PMID:29105198|PMID:29449679|PMID:29532523|PMID:29763623|PMID:29987895|PMID:30051528|PMID:30165166|PMID:30178487|PMID:30240866|PMID:30523111|PMID:30599247|PMID:31147264|PMID:31408918|PMID:31789679|PMID:31837177|PMID:32226942|PMID:32291317|PMID:32619305|PMID:32782671|PMID:33056981|PMID:33543147|PMID:33753552|PMID:33994539|PMID:34103665|PMID:34411449|PMID:35101336|PMID:35535848|PMID:35705560|PMID:36505786|PMID:37296851|PMID:37871653|PMID:38016019|PMID:38053410|PMID:39592485
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0080747	chronic urticaria		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic urticaria	PMID:15814878|PMID:19561322|PMID:20301779|PMID:23901009|PMID:25741868|PMID:26365799|PMID:28154186|PMID:28492532|PMID:28813500|PMID:34019641
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0080777	lung sarcomatoid carcinoma		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung sarcomatoid carcinoma	PMID:23348503|PMID:23348506|PMID:23530248|PMID:23764841|PMID:23887589|PMID:24030750|PMID:24174164|PMID:24337442|PMID:24569790|PMID:24657534|PMID:24726063|PMID:25977370|PMID:26389665|PMID:26391479|PMID:26870359|PMID:27562490|PMID:27650951|PMID:27993330|PMID:28726821|PMID:29413688|PMID:30051528|PMID:30240866|PMID:30599247|PMID:31147264|PMID:31669704|PMID:32249949|PMID:32619305|PMID:32850962|PMID:32923861|PMID:33899270|PMID:33996563|PMID:34103665|PMID:35101336|PMID:37871653|PMID:38053410
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0080878	IDH-wildtype glioblastoma		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IDH-wildtype glioblastoma	PMID:23348503|PMID:23348506|PMID:23530248|PMID:23764841|PMID:24030752|PMID:24154961|PMID:24174164|PMID:24260374|PMID:24337442|PMID:24705251|PMID:25217772|PMID:25268584|PMID:25314060|PMID:25741868|PMID:25862495|PMID:25977370|PMID:26061751|PMID:26061753|PMID:26143634|PMID:26143636|PMID:26171145|PMID:26194807|PMID:26466568|PMID:26523776|PMID:26875008|PMID:26941407|PMID:27442865|PMID:27993330|PMID:28181325|PMID:28284778|PMID:28401334|PMID:28467829|PMID:28481359|PMID:28726821|PMID:28912153|PMID:28966033|PMID:28990704|PMID:29105198|PMID:29449679|PMID:29532523|PMID:29763623|PMID:29987895|PMID:30051528|PMID:30165166|PMID:30178487|PMID:30240866|PMID:30523111|PMID:30599247|PMID:31147264|PMID:31408918|PMID:31789679|PMID:31837177|PMID:32226942|PMID:32291317|PMID:32619305|PMID:32782671|PMID:33056981|PMID:33543147|PMID:33753552|PMID:33994539|PMID:34103665|PMID:34411449|PMID:35101336|PMID:35535848|PMID:35705560|PMID:36505786|PMID:37296851|PMID:37871653|PMID:38016019|PMID:38053410|PMID:39592485
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0081049	hepatosplenic T-cell lymphoma		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatosplenic T-cell lymphoma	PMID:23348503|PMID:23348506|PMID:23530248|PMID:23764841|PMID:24030752|PMID:24154961|PMID:24174164|PMID:24260374|PMID:24337442|PMID:24705251|PMID:25217772|PMID:25268584|PMID:25314060|PMID:25741868|PMID:25862495|PMID:25977370|PMID:26061751|PMID:26061753|PMID:26143634|PMID:26143636|PMID:26171145|PMID:26194807|PMID:26466568|PMID:26523776|PMID:26875008|PMID:26941407|PMID:27442865|PMID:27993330|PMID:28181325|PMID:28284778|PMID:28401334|PMID:28467829|PMID:28481359|PMID:28726821|PMID:28912153|PMID:28966033|PMID:28990704|PMID:29105198|PMID:29449679|PMID:29532523|PMID:29763623|PMID:29987895|PMID:30051528|PMID:30165166|PMID:30178487|PMID:30240866|PMID:30523111|PMID:30599247|PMID:31147264|PMID:31408918|PMID:31789679|PMID:31837177|PMID:32226942|PMID:32291317|PMID:32619305|PMID:32782671|PMID:33056981|PMID:33543147|PMID:33753552|PMID:33994539|PMID:34103665|PMID:34411449|PMID:35101336|PMID:35535848|PMID:35705560|PMID:36505786|PMID:37296851|PMID:37871653|PMID:38016019|PMID:38053410|PMID:39592485
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0081088	chronic myelogenous leukemia, BCR-ABL1 positive		ISO	RGD:1353510	D	RGD:9068941	20260409	CTD		CTD Direct Evidence: marker/mechanism	PMID:17157168
8838530	Tert	telomerase reverse transcriptase	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:23348503|PMID:23348506|PMID:23530248|PMID:23764841|PMID:24030752|PMID:24154961|PMID:24174164|PMID:24260374|PMID:24337442|PMID:24705251|PMID:25217772|PMID:25268584|PMID:25314060|PMID:25741868|PMID:25862495|PMID:25977370|PMID:26061751|PMID:26061753|PMID:26143634|PMID:26143636|PMID:26171145|PMID:26194807|PMID:26466568|PMID:26523776|PMID:26875008|PMID:26941407|PMID:27442865|PMID:27993330|PMID:28181325|PMID:28284778|PMID:28401334|PMID:28467829|PMID:28481359|PMID:28726821|PMID:28912153|PMID:28966033|PMID:28990704|PMID:29105198|PMID:29449679|PMID:29532523|PMID:29763623|PMID:29987895|PMID:30051528|PMID:30165166|PMID:30178487|PMID:30240866|PMID:30523111|PMID:30599247|PMID:31147264|PMID:31408918|PMID:31789679|PMID:31837177|PMID:32226942|PMID:32291317|PMID:32619305|PMID:32782671|PMID:33056981|PMID:33543147|PMID:33753552|PMID:33994539|PMID:34103665|PMID:34411449|PMID:35101336|PMID:35535848|PMID:35705560|PMID:36505786|PMID:37296851|PMID:37871653|PMID:38016019|PMID:38053410|PMID:39592485
8838530	Tert	telomerase reverse transcriptase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:15814878|PMID:19561322|PMID:20301779|PMID:23901009|PMID:25741868|PMID:26365799|PMID:28154186|PMID:28492532|PMID:28813500|PMID:34019641
8838530	Tert	telomerase reverse transcriptase	gene	DOID:10283	prostate cancer		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		mRNA:increased expression:plasma	PMID:17108213|REF_RGD_ID:2291990
8838530	Tert	telomerase reverse transcriptase	gene	DOID:10325	silicosis		ISO	RGD:70494	D	RGD:9068941	20220609	RGD		mRNA:increased expression:lung (rat)	PMID:29230030|REF_RGD_ID:152977761
8838530	Tert	telomerase reverse transcriptase	gene	DOID:1037	lymphoid leukemia		ISO	RGD:1353510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24292274
8838530	Tert	telomerase reverse transcriptase	gene	DOID:10485	esophageal atresia		ISO	RGD:1353510	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
8838530	Tert	telomerase reverse transcriptase	gene	DOID:10534	stomach cancer		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8838530	Tert	telomerase reverse transcriptase	gene	DOID:1059	intellectual disability		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:21483807|PMID:25741868|PMID:26136524|PMID:28492532|PMID:35106810
8838530	Tert	telomerase reverse transcriptase	gene	DOID:10907	microcephaly		ISO	RGD:1353510	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:30426156
8838530	Tert	telomerase reverse transcriptase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:23348503|PMID:23348506|PMID:23530248|PMID:23764841|PMID:24030752|PMID:24154961|PMID:24174164|PMID:24260374|PMID:24337442|PMID:24705251|PMID:25217772|PMID:25268584|PMID:25314060|PMID:25741868|PMID:25862495|PMID:25977370|PMID:26061751|PMID:26061753|PMID:26143634|PMID:26143636|PMID:26171145|PMID:26194807|PMID:26466568|PMID:26523776|PMID:26875008|PMID:26941407|PMID:27442865|PMID:27993330|PMID:28181325|PMID:28284778|PMID:28401334|PMID:28467829|PMID:28481359|PMID:28726821|PMID:28912153|PMID:28966033|PMID:28990704|PMID:29105198|PMID:29449679|PMID:29532523|PMID:29763623|PMID:29987895|PMID:30051528|PMID:30165166|PMID:30178487|PMID:30240866|PMID:30523111|PMID:30599247|PMID:31147264|PMID:31408918|PMID:31789679|PMID:31837177|PMID:32226942|PMID:32291317|PMID:32619305|PMID:32782671|PMID:33056981|PMID:33543147|PMID:33753552|PMID:33994539|PMID:34103665|PMID:34411449|PMID:35101336|PMID:35535848|PMID:35705560|PMID:36505786|PMID:37296851|PMID:37871653|PMID:38016019|PMID:38053410|PMID:39592485
8838530	Tert	telomerase reverse transcriptase	gene	DOID:11830	myopia		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:12241	beta thalassemia		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow	PMID:18466174|REF_RGD_ID:11038664
8838530	Tert	telomerase reverse transcriptase	gene	DOID:12449	aplastic anemia		ISO	RGD:1353510	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aplastic anemia	PMID:12167716|PMID:15814878|PMID:15885610|PMID:16247010|PMID:16990594|PMID:17460043|PMID:18042801|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20044353|PMID:20301779|PMID:20502709|PMID:20966039|PMID:21258621|PMID:21436073|PMID:21520173|PMID:21602826|PMID:21635204|PMID:22364217|PMID:22476886|PMID:22853774|PMID:23538340|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24833766|PMID:24983628|PMID:25108601|PMID:25346280|PMID:25741868|PMID:26136524|PMID:26158642|PMID:26360549|PMID:26365799|PMID:26580448|PMID:28102861|PMID:28154186|PMID:28492532|PMID:28813500|PMID:29036293|PMID:29483670|PMID:29891356|PMID:30088779|PMID:30523342|PMID:30791107|PMID:31268371|PMID:33214205|PMID:34019641|PMID:35155181|PMID:35776903|PMID:36028256|PMID:39279213|PMID:39316766
8838530	Tert	telomerase reverse transcriptase	gene	DOID:12450	pancytopenia		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:17785587|PMID:20301779|PMID:25741868|PMID:26887940|PMID:28192371|PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:12580	Cri-du-Chat syndrome		ISO	RGD:1353510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12629597
8838530	Tert	telomerase reverse transcriptase	gene	DOID:12849	autistic disorder		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:1319	brain cancer	ameliorates	ISO	RGD:1353510	D	RGD:9068941	20220609	RGD		DNA:SNP:cds:rs2736100 (human)	PMID:26014354|REF_RGD_ID:152985535
8838530	Tert	telomerase reverse transcriptase	gene	DOID:1324	lung cancer		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8838530	Tert	telomerase reverse transcriptase	gene	DOID:14176	selective IgG deficiency disease		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IgG deficiency	PMID:25741868|PMID:32499645|PMID:32581362|PMID:33709208|PMID:39198715
8838530	Tert	telomerase reverse transcriptase	gene	DOID:14228	oligospermia		ISO	RGD:1353510	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:37579952
8838530	Tert	telomerase reverse transcriptase	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:23348503|PMID:23348506|PMID:23530248|PMID:23764841|PMID:24030752|PMID:24154961|PMID:24174164|PMID:24260374|PMID:24337442|PMID:24705251|PMID:25217772|PMID:25268584|PMID:25314060|PMID:25741868|PMID:25862495|PMID:25977370|PMID:26061751|PMID:26061753|PMID:26143634|PMID:26143636|PMID:26171145|PMID:26194807|PMID:26466568|PMID:26523776|PMID:26875008|PMID:26941407|PMID:27442865|PMID:27993330|PMID:28181325|PMID:28284778|PMID:28401334|PMID:28467829|PMID:28481359|PMID:28726821|PMID:28912153|PMID:28966033|PMID:28990704|PMID:29105198|PMID:29449679|PMID:29532523|PMID:29763623|PMID:29987895|PMID:30051528|PMID:30165166|PMID:30178487|PMID:30240866|PMID:30523111|PMID:30599247|PMID:31147264|PMID:31408918|PMID:31789679|PMID:31837177|PMID:32226942|PMID:32291317|PMID:32619305|PMID:32782671|PMID:33056981|PMID:33543147|PMID:33753552|PMID:33994539|PMID:34103665|PMID:34411449|PMID:35101336|PMID:35535848|PMID:35705560|PMID:36505786|PMID:37296851|PMID:37871653|PMID:38016019|PMID:38053410|PMID:39592485
8838530	Tert	telomerase reverse transcriptase	gene	DOID:1596	depressive disorder		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:1612	breast cancer		ISO	RGD:1353510	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to	PMID:20301779|PMID:24033266|PMID:25741868|PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1353510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25086665|PMID:26098869
8838530	Tert	telomerase reverse transcriptase	gene	DOID:1826	epilepsy		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:1883	hepatitis C	disease_progression	ISO	RGD:1353510	D	RGD:9068941	20200609	RGD			PMID:24634940|REF_RGD_ID:14696782
8838530	Tert	telomerase reverse transcriptase	gene	DOID:1884	viral hepatitis	disease_progression	ISO	RGD:1353510	D	RGD:9068941	20200609	RGD			PMID:17212643|REF_RGD_ID:14696781
8838530	Tert	telomerase reverse transcriptase	gene	DOID:1909	melanoma		ISO	RGD:1353510	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: therapeutic	PMID:20856939
8838530	Tert	telomerase reverse transcriptase	gene	DOID:1909	melanoma		ISO	RGD:1353510	D	RGD:9068941	20220512	RGD		mRNA:increased expression:plasma	PMID:14654933|REF_RGD_ID:2291969
8838530	Tert	telomerase reverse transcriptase	gene	DOID:1909	melanoma		ISO	RGD:1353510	D	RGD:9068941	20220610	RGD		DNA:SNP:cds:rs455433|rs2736100 (human)	PMID:25231748|REF_RGD_ID:152995261
8838530	Tert	telomerase reverse transcriptase	gene	DOID:1967	leiomyosarcoma		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		mRNA:increased expression:myometrium	PMID:10652422|REF_RGD_ID:2298564
8838530	Tert	telomerase reverse transcriptase	gene	DOID:2030	anxiety disorder		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:2129	atypical teratoid rhabdoid tumor		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor	PMID:23348503|PMID:23348506|PMID:23530248|PMID:23764841|PMID:24030752|PMID:24154961|PMID:24174164|PMID:24260374|PMID:24337442|PMID:24705251|PMID:25217772|PMID:25268584|PMID:25314060|PMID:25741868|PMID:25862495|PMID:25977370|PMID:26061751|PMID:26061753|PMID:26143634|PMID:26143636|PMID:26171145|PMID:26194807|PMID:26466568|PMID:26523776|PMID:26875008|PMID:26941407|PMID:27442865|PMID:27993330|PMID:28181325|PMID:28284778|PMID:28401334|PMID:28467829|PMID:28481359|PMID:28726821|PMID:28912153|PMID:28966033|PMID:28990704|PMID:29105198|PMID:29449679|PMID:29532523|PMID:29763623|PMID:29987895|PMID:30051528|PMID:30165166|PMID:30178487|PMID:30240866|PMID:30523111|PMID:30599247|PMID:31147264|PMID:31408918|PMID:31789679|PMID:31837177|PMID:32226942|PMID:32291317|PMID:32619305|PMID:32782671|PMID:33056981|PMID:33543147|PMID:33753552|PMID:33994539|PMID:34103665|PMID:34411449|PMID:35101336|PMID:35535848|PMID:35705560|PMID:36505786|PMID:37296851|PMID:37871653|PMID:38016019|PMID:38053410|PMID:39592485
8838530	Tert	telomerase reverse transcriptase	gene	DOID:2154	nephroblastoma	disease_progression	ISO	RGD:1353510	D	RGD:9068941	20200609	RGD			PMID:16172460|REF_RGD_ID:2291966
8838530	Tert	telomerase reverse transcriptase	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:70494	D	RGD:9068941	20200609	RGD			PMID:21914402|REF_RGD_ID:11038669
8838530	Tert	telomerase reverse transcriptase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8838530	Tert	telomerase reverse transcriptase	gene	DOID:234	colon adenocarcinoma	treatment	ISO	RGD:70505	D	RGD:9068941	20200609	RGD			PMID:19903903|REF_RGD_ID:11038656
8838530	Tert	telomerase reverse transcriptase	gene	DOID:2394	ovarian cancer		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1353510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19151717
8838530	Tert	telomerase reverse transcriptase	gene	DOID:2526	prostate adenocarcinoma	treatment	ISO	RGD:70505	D	RGD:9068941	20200609	RGD			PMID:19903903|REF_RGD_ID:11038656
8838530	Tert	telomerase reverse transcriptase	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		mRNA:increased expression:urine, urothelial cell	PMID:17961306|REF_RGD_ID:2291982
8838530	Tert	telomerase reverse transcriptase	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:1353510	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dyskeratosis Congenita | ClinVar Annotator: match by term: Dyskeratosis congenita	PMID:15814878|PMID:16199547|PMID:16247010|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20502709|PMID:20966039|PMID:21258621|PMID:21349926|PMID:21436073|PMID:21483807|PMID:21520173|PMID:21520174|PMID:21635204|PMID:21931702|PMID:22364217|PMID:22476886|PMID:22853774|PMID:23538340|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24763404|PMID:24833766|PMID:24983628|PMID:25108601|PMID:25192356|PMID:25346280|PMID:25562321|PMID:25741868|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26365799|PMID:26580448|PMID:26859482|PMID:26887940|PMID:27159321|PMID:27540018|PMID:28099038|PMID:28102861|PMID:28154186|PMID:28192371|PMID:28492532|PMID:28767289|PMID:28813500|PMID:29036293|PMID:29483670|PMID:29891356|PMID:30088779|PMID:30426156|PMID:30523342|PMID:30791107|PMID:30995915|PMID:31119896|PMID:31268371|PMID:32076714|PMID:33709208|PMID:33718801|PMID:34019641|PMID:34565437|PMID:34580961|PMID:35106810|PMID:35155181|PMID:35776903|PMID:36028256|PMID:36542832|PMID:36622818|PMID:37096215|PMID:37397566|PMID:37944684|PMID:38017244|PMID:39198715|PMID:39279213|PMID:39316766|PMID:40888375|PMID:9536098
8838530	Tert	telomerase reverse transcriptase	gene	DOID:2797	idiopathic interstitial pneumonia		ISO	RGD:1353510	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: idiopathic fibrosing alveolitis	PMID:15814878|PMID:16199547|PMID:16247010|PMID:17392301|PMID:17460043|PMID:17785587|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20502709|PMID:20966039|PMID:21258621|PMID:21349926|PMID:21436073|PMID:21483807|PMID:21520173|PMID:21520174|PMID:21635204|PMID:21931702|PMID:22364217|PMID:22476886|PMID:22853774|PMID:23538340|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24763404|PMID:24833766|PMID:24983628|PMID:25108601|PMID:25346280|PMID:25562321|PMID:25741868|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26329388|PMID:26365799|PMID:26580448|PMID:26859482|PMID:26887940|PMID:27159321|PMID:27540018|PMID:28102861|PMID:28154186|PMID:28192371|PMID:28492532|PMID:28813500|PMID:29036293|PMID:29141224|PMID:29483670|PMID:29891356|PMID:30088779|PMID:30426156|PMID:30523342|PMID:30791107|PMID:30995915|PMID:31213647|PMID:31268371|PMID:32076714|PMID:32150348|PMID:33709208|PMID:33718801|PMID:34019641|PMID:34565437|PMID:35106810|PMID:35155181|PMID:35776903|PMID:36028256|PMID:36622818|PMID:37096215|PMID:37397566|PMID:37944684|PMID:38641551|PMID:39198715|PMID:39279213|PMID:39316766
8838530	Tert	telomerase reverse transcriptase	gene	DOID:2841	asthma		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:26158642|PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:2997	Sertoli-Leydig cell tumor		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sertoli-Leydig cell tumor	PMID:23348503|PMID:23348506|PMID:23530248|PMID:23764841|PMID:24030752|PMID:24154961|PMID:24174164|PMID:24260374|PMID:24337442|PMID:24705251|PMID:25217772|PMID:25268584|PMID:25314060|PMID:25741868|PMID:25862495|PMID:25977370|PMID:26061751|PMID:26061753|PMID:26143634|PMID:26143636|PMID:26171145|PMID:26194807|PMID:26466568|PMID:26523776|PMID:26875008|PMID:26941407|PMID:27442865|PMID:27993330|PMID:28181325|PMID:28284778|PMID:28401334|PMID:28467829|PMID:28481359|PMID:28726821|PMID:28912153|PMID:28966033|PMID:28990704|PMID:29105198|PMID:29449679|PMID:29532523|PMID:29763623|PMID:29987895|PMID:30051528|PMID:30165166|PMID:30178487|PMID:30240866|PMID:30523111|PMID:30599247|PMID:31147264|PMID:31408918|PMID:31789679|PMID:31837177|PMID:32226942|PMID:32291317|PMID:32619305|PMID:32782671|PMID:33056981|PMID:33543147|PMID:33753552|PMID:33994539|PMID:34103665|PMID:34411449|PMID:35101336|PMID:35535848|PMID:35705560|PMID:36505786|PMID:37296851|PMID:37871653|PMID:38016019|PMID:38053410|PMID:39592485
8838530	Tert	telomerase reverse transcriptase	gene	DOID:3070	high grade glioma		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant glioma	PMID:23348503|PMID:23348506|PMID:23530248|PMID:23764841|PMID:24030752|PMID:24154961|PMID:24174164|PMID:24260374|PMID:24337442|PMID:24705251|PMID:25217772|PMID:25268584|PMID:25314060|PMID:25741868|PMID:25862495|PMID:25977370|PMID:26061751|PMID:26061753|PMID:26143634|PMID:26143636|PMID:26171145|PMID:26194807|PMID:26466568|PMID:26523776|PMID:26875008|PMID:26941407|PMID:27442865|PMID:27993330|PMID:28181325|PMID:28284778|PMID:28401334|PMID:28467829|PMID:28481359|PMID:28726821|PMID:28912153|PMID:28966033|PMID:28990704|PMID:29105198|PMID:29449679|PMID:29532523|PMID:29763623|PMID:29987895|PMID:30051528|PMID:30165166|PMID:30178487|PMID:30240866|PMID:30523111|PMID:30599247|PMID:31147264|PMID:31408918|PMID:31789679|PMID:31837177|PMID:32226942|PMID:32291317|PMID:32619305|PMID:32782671|PMID:33056981|PMID:33543147|PMID:33753552|PMID:33994539|PMID:34103665|PMID:34411449|PMID:35101336|PMID:35535848|PMID:35705560|PMID:36505786|PMID:37296851|PMID:37871653|PMID:38016019|PMID:38053410|PMID:39592485
8838530	Tert	telomerase reverse transcriptase	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1353510	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Chronic obstructive pulmonary disease	PMID:25346280|PMID:25741868|PMID:28492532|PMID:30523342|PMID:30791107
8838530	Tert	telomerase reverse transcriptase	gene	DOID:3275	thymoma		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8838530	Tert	telomerase reverse transcriptase	gene	DOID:3307	teratoma		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		mRNA:decreased expression	PMID:12168080|REF_RGD_ID:2298558
8838530	Tert	telomerase reverse transcriptase	gene	DOID:3355	fibrosarcoma	treatment	ISO	RGD:70505	D	RGD:9068941	20200609	RGD			PMID:19903903|REF_RGD_ID:11038656
8838530	Tert	telomerase reverse transcriptase	gene	DOID:3393	coronary artery disease		ISO	RGD:1353510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16890917
8838530	Tert	telomerase reverse transcriptase	gene	DOID:3459	breast carcinoma		ISO	RGD:1353510	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Carcinoma of breast	PMID:15814878|PMID:17460043|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20966039|PMID:21520173|PMID:21635204|PMID:22476886|PMID:23538340|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:28154186|PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:3565	meningioma		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningioma	PMID:35101336
8838530	Tert	telomerase reverse transcriptase	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1353510	D	RGD:9068941	20220603	RGD		mRNA:increased expression:esophagus squamous epithelium:	PMID:15112252|REF_RGD_ID:152977757
8838530	Tert	telomerase reverse transcriptase	gene	DOID:3748	esophagus squamous cell carcinoma	no_association	ISO	RGD:1353510	D	RGD:9068941	20211217	RGD		DNA:SNP: :rs2736098(human)	PMID:25007268|REF_RGD_ID:150530488
8838530	Tert	telomerase reverse transcriptase	gene	DOID:3748	esophagus squamous cell carcinoma	susceptibility	ISO	RGD:1353510	D	RGD:9068941	20211217	RGD		DNA:SNPs: : rs2853691,rs2736100(human)	PMID:26716642|REF_RGD_ID:11572962
8838530	Tert	telomerase reverse transcriptase	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1353510	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis	PMID:15814878|PMID:16247010|PMID:17264120|PMID:17392301|PMID:17460043|PMID:18302718|PMID:18460650|PMID:18635888|PMID:19760749|PMID:20022961|PMID:20301779|PMID:20502709|PMID:21349926|PMID:21436073|PMID:21483807|PMID:21931702|PMID:22364217|PMID:22664374|PMID:22853774|PMID:23716176|PMID:23901009|PMID:24833766|PMID:25365545|PMID:25562321|PMID:25741868|PMID:26024875|PMID:26859482|PMID:27540018|PMID:28099038|PMID:28102861|PMID:28192371|PMID:28492532|PMID:29483670|PMID:30523342|PMID:30791107|PMID:30995915|PMID:31268371|PMID:32076714|PMID:33035329|PMID:33709208|PMID:34019641|PMID:35155181|PMID:36028256|PMID:36542832|PMID:37665761|PMID:38874681|PMID:39198715|PMID:39279213|PMID:39316766
8838530	Tert	telomerase reverse transcriptase	gene	DOID:3907	lung squamous cell carcinoma	susceptibility	ISO	RGD:1353510	D	RGD:9068941	20211217	RGD		DNA:SNP:: rs2853669(human)	PMID:23908149|REF_RGD_ID:150530498
8838530	Tert	telomerase reverse transcriptase	gene	DOID:3907	lung squamous cell carcinoma	susceptibility	ISO	RGD:1353510	D	RGD:9068941	20211224	RGD		DNA:SNP::rs33963617(human)	PMID:31935503|REF_RGD_ID:150530635
8838530	Tert	telomerase reverse transcriptase	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1353510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21252717
8838530	Tert	telomerase reverse transcriptase	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1353510	D	RGD:9068941	20211224	RGD		DNA:SNP: :rs2736098(human)	PMID:24679952|REF_RGD_ID:150530644
8838530	Tert	telomerase reverse transcriptase	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1353510	D	RGD:9068941	20211224	RGD		DNA:SNPs, haplotype: :rs2853669,rs2736108(human)	PMID:27982019|REF_RGD_ID:150530632
8838530	Tert	telomerase reverse transcriptase	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1353510	D	RGD:9068941	20211217	RGD		DNA:SNP: :rs2736098(human)	PMID:23738012|PMID:24761905|REF_RGD_ID:150530485|REF_RGD_ID:150530628
8838530	Tert	telomerase reverse transcriptase	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1353510	D	RGD:9068941	20211217	RGD		DNA:SNP:: rs2736100(human)	PMID:19955392|REF_RGD_ID:150530502
8838530	Tert	telomerase reverse transcriptase	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1353510	D	RGD:9068941	20211217	RGD		DNA:SNPs:: rs2853669,rs2736108(human)	PMID:23908149|REF_RGD_ID:150530498
8838530	Tert	telomerase reverse transcriptase	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1353510	D	RGD:9068941	20211224	RGD		DNA:SNP::rs33963617(human)	PMID:31935503|REF_RGD_ID:150530635
8838530	Tert	telomerase reverse transcriptase	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:1353510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24747642
8838530	Tert	telomerase reverse transcriptase	gene	DOID:4195	hyperglycemia		ISO	RGD:1353510	D	RGD:9068941	20241205	CTD		CTD Direct Evidence: therapeutic	PMID:39265716
8838530	Tert	telomerase reverse transcriptase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney	PMID:18250061|REF_RGD_ID:2291980
8838530	Tert	telomerase reverse transcriptase	gene	DOID:4852	pleomorphic xanthoastrocytoma		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	PMID:23348503|PMID:23348506|PMID:23530248|PMID:23764841|PMID:24030752|PMID:24154961|PMID:24174164|PMID:24260374|PMID:24337442|PMID:24705251|PMID:25217772|PMID:25268584|PMID:25314060|PMID:25741868|PMID:25862495|PMID:25977370|PMID:26061751|PMID:26061753|PMID:26143634|PMID:26143636|PMID:26171145|PMID:26194807|PMID:26466568|PMID:26523776|PMID:26875008|PMID:26941407|PMID:27442865|PMID:27993330|PMID:28181325|PMID:28284778|PMID:28401334|PMID:28467829|PMID:28481359|PMID:28726821|PMID:28912153|PMID:28966033|PMID:28990704|PMID:29105198|PMID:29449679|PMID:29532523|PMID:29763623|PMID:29987895|PMID:30051528|PMID:30165166|PMID:30178487|PMID:30240866|PMID:30523111|PMID:30599247|PMID:31147264|PMID:31408918|PMID:31789679|PMID:31837177|PMID:32226942|PMID:32291317|PMID:32619305|PMID:32782671|PMID:33056981|PMID:33543147|PMID:33753552|PMID:33994539|PMID:34103665|PMID:34411449|PMID:35101336|PMID:35535848|PMID:35705560|PMID:36505786|PMID:37296851|PMID:37871653|PMID:38016019|PMID:38053410|PMID:39592485
8838530	Tert	telomerase reverse transcriptase	gene	DOID:4948	gallbladder carcinoma	susceptibility	ISO	RGD:1353510	D	RGD:9068941	20211217	RGD		DNA:SNP, haplotype: :rs2736100(human)	PMID:29450669|REF_RGD_ID:150530629
8838530	Tert	telomerase reverse transcriptase	gene	DOID:4961	bone marrow disease		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	PMID:17785587|PMID:20301779|PMID:25741868|PMID:26887940|PMID:28192371|PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:5016	hepatocellular clear cell carcinoma		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver:	PMID:20723213|REF_RGD_ID:14696785
8838530	Tert	telomerase reverse transcriptase	gene	DOID:5016	hepatocellular clear cell carcinoma	disease_progression	ISO	RGD:1353510	D	RGD:9068941	20200609	RGD			PMID:28460432|REF_RGD_ID:14696783
8838530	Tert	telomerase reverse transcriptase	gene	DOID:557	kidney disease		ISO	RGD:1353510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16968891
8838530	Tert	telomerase reverse transcriptase	gene	DOID:5641	diffuse pulmonary fibrosis		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse interstitial pulmonary fibrosis	PMID:24033266
8838530	Tert	telomerase reverse transcriptase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1353510	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838530	Tert	telomerase reverse transcriptase	gene	DOID:6032	juvenile type testicular granulosa cell tumor		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Juvenile type testicular granulosa cell tumor	PMID:23348503|PMID:23348506|PMID:23530248|PMID:23764841|PMID:24030752|PMID:24154961|PMID:24174164|PMID:24260374|PMID:24337442|PMID:24705251|PMID:25217772|PMID:25268584|PMID:25314060|PMID:25741868|PMID:25862495|PMID:25977370|PMID:26061751|PMID:26061753|PMID:26143634|PMID:26143636|PMID:26171145|PMID:26194807|PMID:26466568|PMID:26523776|PMID:26875008|PMID:26941407|PMID:27442865|PMID:27993330|PMID:28181325|PMID:28284778|PMID:28401334|PMID:28467829|PMID:28481359|PMID:28726821|PMID:28912153|PMID:28966033|PMID:28990704|PMID:29105198|PMID:29449679|PMID:29532523|PMID:29763623|PMID:29987895|PMID:30051528|PMID:30165166|PMID:30178487|PMID:30240866|PMID:30523111|PMID:30599247|PMID:31147264|PMID:31408918|PMID:31789679|PMID:31837177|PMID:32226942|PMID:32291317|PMID:32619305|PMID:32782671|PMID:33056981|PMID:33543147|PMID:33753552|PMID:33994539|PMID:34103665|PMID:34411449|PMID:35101336|PMID:35535848|PMID:35705560|PMID:36505786|PMID:37296851|PMID:37871653|PMID:38016019|PMID:38053410|PMID:39592485
8838530	Tert	telomerase reverse transcriptase	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD			PMID:24376652|REF_RGD_ID:11038675
8838530	Tert	telomerase reverse transcriptase	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:70494	D	RGD:9068941	20200609	RGD			PMID:24376652|REF_RGD_ID:11038675
8838530	Tert	telomerase reverse transcriptase	gene	DOID:6785	desmoplastic small round cell tumor		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Desmoplastic small round cell tumor	PMID:23348503|PMID:23348506|PMID:23530248|PMID:23764841|PMID:24030752|PMID:24154961|PMID:24174164|PMID:24260374|PMID:24337442|PMID:24705251|PMID:25217772|PMID:25268584|PMID:25314060|PMID:25741868|PMID:25862495|PMID:25977370|PMID:26061751|PMID:26061753|PMID:26143634|PMID:26143636|PMID:26171145|PMID:26194807|PMID:26466568|PMID:26523776|PMID:26875008|PMID:26941407|PMID:27442865|PMID:27993330|PMID:28181325|PMID:28284778|PMID:28401334|PMID:28467829|PMID:28481359|PMID:28726821|PMID:28912153|PMID:28966033|PMID:28990704|PMID:29105198|PMID:29449679|PMID:29532523|PMID:29763623|PMID:29987895|PMID:30051528|PMID:30165166|PMID:30178487|PMID:30240866|PMID:30523111|PMID:30599247|PMID:31147264|PMID:31408918|PMID:31789679|PMID:31837177|PMID:32226942|PMID:32291317|PMID:32619305|PMID:32782671|PMID:33056981|PMID:33543147|PMID:33753552|PMID:33994539|PMID:34103665|PMID:34411449|PMID:35101336|PMID:35535848|PMID:35705560|PMID:36505786|PMID:37296851|PMID:37871653|PMID:38016019|PMID:38053410|PMID:39592485
8838530	Tert	telomerase reverse transcriptase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:23000435|PMID:28492532|PMID:28677271
8838530	Tert	telomerase reverse transcriptase	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		DNA:SNP,mutations:promoter:rs2853669 (-245T >C), (-124C > T),(-146C > T)human	PMID:26575952|REF_RGD_ID:11564803
8838530	Tert	telomerase reverse transcriptase	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		DNA:mutations:promoter:	PMID:25123086|REF_RGD_ID:14696767
8838530	Tert	telomerase reverse transcriptase	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1353510	D	RGD:9068941	20220602	RGD		associated with hepatitis B;DNA:SNP: :rs13167280 (human)	PMID:23907815|REF_RGD_ID:152975963
8838530	Tert	telomerase reverse transcriptase	gene	DOID:684	hepatocellular carcinoma	no_association	ISO	RGD:1353510	D	RGD:9068941	20200609	RGD			PMID:19184104|REF_RGD_ID:14696769
8838530	Tert	telomerase reverse transcriptase	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		DNA:mutations, polymorphisms:promoter,intron, exon:rs2736100,rs2736098(human)	PMID:28416747|REF_RGD_ID:14696770
8838530	Tert	telomerase reverse transcriptase	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1353510	D	RGD:9068941	20211217	RGD		DNA:SNPs::rs2736098(human)	PMID:25339005|REF_RGD_ID:150530496
8838530	Tert	telomerase reverse transcriptase	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1353510	D	RGD:9068941	20200609	RGD			PMID:17175353|REF_RGD_ID:14696768
8838530	Tert	telomerase reverse transcriptase	gene	DOID:6846	familial melanoma		ISO	RGD:1353510	D	RGD:7240710	20180130	OMIM			
8838530	Tert	telomerase reverse transcriptase	gene	DOID:6846	familial melanoma		ISO	RGD:1353510	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:20871597|PMID:21436073|PMID:22037553|PMID:23066086|PMID:23348503|PMID:23535731|PMID:24833766|PMID:25741868|PMID:26194807|PMID:26433962|PMID:28492532|PMID:28818973|PMID:29483670|PMID:31395865
8838530	Tert	telomerase reverse transcriptase	gene	DOID:6846	familial melanoma		ISO	RGD:1353510	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:20871597|PMID:21436073|PMID:22037553|PMID:23066086|PMID:23348503|PMID:23535731|PMID:24833766|PMID:25741868|PMID:26194807|PMID:26433962|PMID:28492532|PMID:28818973|PMID:29483670|PMID:31395865|PMID:35776903
8838530	Tert	telomerase reverse transcriptase	gene	DOID:6846	familial melanoma		ISO	RGD:1353510	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:20871597|PMID:21436073|PMID:22037553|PMID:23066086|PMID:23348503|PMID:23535731|PMID:24833766|PMID:25741868|PMID:26136524|PMID:26194807|PMID:26433962|PMID:28492532|PMID:28818973|PMID:29036293|PMID:29483670|PMID:31395865|PMID:35776903
8838530	Tert	telomerase reverse transcriptase	gene	DOID:6846	familial melanoma		ISO	RGD:1353510	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:15814878|PMID:19561322|PMID:19674077|PMID:20301779|PMID:20871597|PMID:21436073|PMID:22037553|PMID:23066086|PMID:23348503|PMID:23535731|PMID:23901009|PMID:24833766|PMID:24983628|PMID:25346280|PMID:25741868|PMID:26136524|PMID:26194807|PMID:26365799|PMID:26433962|PMID:26580448|PMID:28154186|PMID:28492532|PMID:28813500|PMID:28818973|PMID:29036293|PMID:29483670|PMID:30523342|PMID:30791107|PMID:31395865|PMID:34019641|PMID:34565437|PMID:35776903|PMID:37096215
8838530	Tert	telomerase reverse transcriptase	gene	DOID:6846	familial melanoma		ISO	RGD:1353510	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:15814878|PMID:19561322|PMID:19674077|PMID:20301779|PMID:20871597|PMID:21436073|PMID:22037553|PMID:23066086|PMID:23348503|PMID:23535731|PMID:23901009|PMID:24833766|PMID:24983628|PMID:25346280|PMID:25741868|PMID:26136524|PMID:26194807|PMID:26365799|PMID:26433962|PMID:26580448|PMID:28154186|PMID:28492532|PMID:28813500|PMID:28818973|PMID:29036293|PMID:29483670|PMID:30523342|PMID:30791107|PMID:31395865|PMID:34019641|PMID:34565437|PMID:35776903|PMID:37096215|PMID:37944684
8838530	Tert	telomerase reverse transcriptase	gene	DOID:6846	familial melanoma		ISO	RGD:1353510	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:15814878|PMID:19561322|PMID:19674077|PMID:20301779|PMID:20871597|PMID:21436073|PMID:22037553|PMID:23066086|PMID:23348503|PMID:23535731|PMID:23901009|PMID:24033266|PMID:24833766|PMID:24983628|PMID:25346280|PMID:25741868|PMID:26136524|PMID:26194807|PMID:26365799|PMID:26433962|PMID:26580448|PMID:28154186|PMID:28492532|PMID:28813500|PMID:28818973|PMID:28873162|PMID:29036293|PMID:29483670|PMID:30523342|PMID:30791107|PMID:31395865|PMID:34019641|PMID:34565437|PMID:35776903|PMID:37096215|PMID:37944684
8838530	Tert	telomerase reverse transcriptase	gene	DOID:6846	familial melanoma		ISO	RGD:1353510	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:15814878|PMID:16627250|PMID:16990594|PMID:19561322|PMID:19674077|PMID:20301779|PMID:20871597|PMID:21436073|PMID:22037553|PMID:23066086|PMID:23348503|PMID:23535731|PMID:23901009|PMID:24033266|PMID:24833766|PMID:24983628|PMID:25346280|PMID:25562321|PMID:25741868|PMID:26136524|PMID:26194807|PMID:26329388|PMID:26365799|PMID:26433962|PMID:26580448|PMID:26887940|PMID:28154186|PMID:28492532|PMID:28813500|PMID:28818973|PMID:28873162|PMID:29036293|PMID:29483670|PMID:30523342|PMID:30791107|PMID:31395865|PMID:34019641|PMID:34565437|PMID:35106810|PMID:35776903|PMID:35927969|PMID:37096215|PMID:37944684
8838530	Tert	telomerase reverse transcriptase	gene	DOID:6846	familial melanoma		ISO	RGD:1353510	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:15814878|PMID:16627250|PMID:16990594|PMID:19561322|PMID:19674077|PMID:20301779|PMID:21436073|PMID:23901009|PMID:24033266|PMID:24833766|PMID:24983628|PMID:25346280|PMID:25562321|PMID:25741868|PMID:26136524|PMID:26329388|PMID:26365799|PMID:26580448|PMID:26887940|PMID:28154186|PMID:28492532|PMID:28813500|PMID:28873162|PMID:29036293|PMID:29483670|PMID:30523342|PMID:30791107|PMID:34019641|PMID:34565437|PMID:35106810|PMID:35776903|PMID:35927969|PMID:37096215|PMID:37944684
8838530	Tert	telomerase reverse transcriptase	gene	DOID:6846	familial melanoma		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:15814878|PMID:16247010|PMID:17460043|PMID:18635888|PMID:19561322|PMID:19674077|PMID:20301779|PMID:21436073|PMID:23348503|PMID:23348506|PMID:23530248|PMID:23764841|PMID:23901009|PMID:24030752|PMID:24033266|PMID:24154961|PMID:24174164|PMID:24260374|PMID:24337442|PMID:24705251|PMID:24833766|PMID:24983628|PMID:25217772|PMID:25268584|PMID:25314060|PMID:25346280|PMID:25741868|PMID:25862495|PMID:25977370|PMID:26061751|PMID:26061753|PMID:26136524|PMID:26143634|PMID:26143636|PMID:26158642|PMID:26171145|PMID:26194807|PMID:26365799|PMID:26466568|PMID:26523776|PMID:26580448|PMID:26875008|PMID:26941407|PMID:27442865|PMID:27993330|PMID:28154186|PMID:28181325|PMID:28284778|PMID:28401334|PMID:28467829|PMID:28481359|PMID:28492532|PMID:28726821|PMID:28813500|PMID:28912153|PMID:28966033|PMID:28990704|PMID:29036293|PMID:29105198|PMID:29449679|PMID:29483670|PMID:29532523|PMID:29763623|PMID:29987895|PMID:30051528|PMID:30088779|PMID:30165166|PMID:30178487|PMID:30240866|PMID:30523111|PMID:30523342|PMID:30599247|PMID:30791107|PMID:31147264|PMID:31268371|PMID:31408918|PMID:31789679|PMID:31837177|PMID:32226942|PMID:32291317|PMID:32619305|PMID:32782671|PMID:33056981|PMID:33543147|PMID:33753552|PMID:33994539|PMID:34019641|PMID:34103665|PMID:34411449|PMID:35101336|PMID:35155181|PMID:35535848|PMID:35705560|PMID:35776903|PMID:36028256|PMID:36505786|PMID:37296851|PMID:37871653|PMID:38016019|PMID:38053410|PMID:39316766|PMID:39592485
8838530	Tert	telomerase reverse transcriptase	gene	DOID:6846	familial melanoma		ISO	RGD:1353510	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:15814878|PMID:16247010|PMID:17460043|PMID:18042801|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19561322|PMID:19674077|PMID:20301779|PMID:21258621|PMID:21436073|PMID:23348503|PMID:23348506|PMID:23530248|PMID:23764841|PMID:23901009|PMID:23905534|PMID:24030752|PMID:24033266|PMID:24154961|PMID:24174164|PMID:24260374|PMID:24337442|PMID:24705251|PMID:24833766|PMID:24983628|PMID:25217772|PMID:25268584|PMID:25314060|PMID:25346280|PMID:25741868|PMID:25862495|PMID:25977370|PMID:26061751|PMID:26061753|PMID:26136524|PMID:26143634|PMID:26143636|PMID:26158642|PMID:26171145|PMID:26194807|PMID:26365799|PMID:26466568|PMID:26523776|PMID:26580448|PMID:26875008|PMID:26941407|PMID:27442865|PMID:27993330|PMID:28154186|PMID:28181325|PMID:28284778|PMID:28401334|PMID:28467829|PMID:28481359|PMID:28492532|PMID:28726821|PMID:28813500|PMID:28912153|PMID:28966033|PMID:28990704|PMID:29036293|PMID:29105198|PMID:29449679|PMID:29483670|PMID:29532523|PMID:29763623|PMID:29987895|PMID:30051528|PMID:30088779|PMID:30165166|PMID:30178487|PMID:30240866|PMID:30523111|PMID:30523342|PMID:30599247|PMID:30791107|PMID:31147264|PMID:31268371|PMID:31408918|PMID:31789679|PMID:31837177|PMID:32226942|PMID:32291317|PMID:32619305|PMID:32782671|PMID:33056981|PMID:33543147|PMID:33753552|PMID:33994539|PMID:34019641|PMID:34103665|PMID:34411449|PMID:34565437|PMID:35101336|PMID:35155181|PMID:35535848|PMID:35705560|PMID:35776903|PMID:36028256|PMID:36505786|PMID:37096215|PMID:37296851|PMID:37871653|PMID:37944684|PMID:38016019|PMID:38053410|PMID:39316766|PMID:39592485
8838530	Tert	telomerase reverse transcriptase	gene	DOID:686	liver carcinoma		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Calcifying nested epithelial stromal tumor of the liver	PMID:23348503|PMID:23348506|PMID:23530248|PMID:23764841|PMID:24030752|PMID:24154961|PMID:24174164|PMID:24260374|PMID:24337442|PMID:24705251|PMID:25217772|PMID:25268584|PMID:25314060|PMID:25741868|PMID:25862495|PMID:25977370|PMID:26061751|PMID:26061753|PMID:26143634|PMID:26143636|PMID:26171145|PMID:26194807|PMID:26466568|PMID:26523776|PMID:26875008|PMID:26941407|PMID:27442865|PMID:27993330|PMID:28181325|PMID:28284778|PMID:28401334|PMID:28467829|PMID:28481359|PMID:28726821|PMID:28912153|PMID:28966033|PMID:28990704|PMID:29105198|PMID:29449679|PMID:29532523|PMID:29763623|PMID:29987895|PMID:30051528|PMID:30165166|PMID:30178487|PMID:30240866|PMID:30523111|PMID:30599247|PMID:31147264|PMID:31408918|PMID:31789679|PMID:31837177|PMID:32226942|PMID:32291317|PMID:32619305|PMID:32782671|PMID:33056981|PMID:33543147|PMID:33753552|PMID:33994539|PMID:34103665|PMID:34411449|PMID:35101336|PMID:35535848|PMID:35705560|PMID:36505786|PMID:37296851|PMID:37871653|PMID:38016019|PMID:38053410|PMID:39592485
8838530	Tert	telomerase reverse transcriptase	gene	DOID:720	normocytic anemia		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Normocytic anemia	PMID:17785587|PMID:20301779|PMID:25741868|PMID:26887940|PMID:28192371|PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:769	neuroblastoma		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuroblastoma	PMID:23348503|PMID:23348506|PMID:23530248|PMID:23764841|PMID:24030752|PMID:24154961|PMID:24174164|PMID:24260374|PMID:24337442|PMID:24705251|PMID:25217772|PMID:25268584|PMID:25314060|PMID:25741868|PMID:25862495|PMID:25977370|PMID:26061751|PMID:26061753|PMID:26143634|PMID:26143636|PMID:26171145|PMID:26194807|PMID:26466568|PMID:26523776|PMID:26875008|PMID:26941407|PMID:27442865|PMID:27993330|PMID:28181325|PMID:28284778|PMID:28401334|PMID:28467829|PMID:28481359|PMID:28726821|PMID:28912153|PMID:28966033|PMID:28990704|PMID:29105198|PMID:29449679|PMID:29532523|PMID:29763623|PMID:29987895|PMID:30051528|PMID:30165166|PMID:30178487|PMID:30240866|PMID:30523111|PMID:30599247|PMID:31147264|PMID:31408918|PMID:31789679|PMID:31837177|PMID:32226942|PMID:32291317|PMID:32619305|PMID:32782671|PMID:33056981|PMID:33543147|PMID:33753552|PMID:33994539|PMID:34103665|PMID:34411449|PMID:35101336|PMID:35535848|PMID:35705560|PMID:36505786|PMID:37296851|PMID:37871653|PMID:38016019|PMID:38053410|PMID:39592485
8838530	Tert	telomerase reverse transcriptase	gene	DOID:784	chronic kidney disease	treatment	ISO	RGD:70494	D	RGD:9068941	20200609	RGD			PMID:23013219|REF_RGD_ID:11038770
8838530	Tert	telomerase reverse transcriptase	gene	DOID:7998	hyperthyroidism		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD			PMID:15068898|REF_RGD_ID:11038663
8838530	Tert	telomerase reverse transcriptase	gene	DOID:8923	skin melanoma		ISO	RGD:1353510	D	RGD:9068941	20241226	CTD		CTD Direct Evidence: marker/mechanism	
8838530	Tert	telomerase reverse transcriptase	gene	DOID:8991	cervix uteri carcinoma in situ	disease_progression	ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:17644806|REF_RGD_ID:2291985
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD			PMID:15798365|REF_RGD_ID:2291993
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:70494	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:spinal cord	PMID:23793903|REF_RGD_ID:11038671
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:1353510	D	RGD:9068941	20220603	RGD		associated with lung non-small cell carcinoma;	PMID:11679180|REF_RGD_ID:152977755
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9000300	Refractory Anemia		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD			PMID:18426652|REF_RGD_ID:11038658
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1353510	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25346280|PMID:25741868|PMID:28492532|PMID:30523342|PMID:30791107
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1353510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29047144
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9000918	Disease Progression		ISO	RGD:1353510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21252717
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9000981	Autosomal Dominant Dyskeratosis Congenita		ISO	RGD:1353510	D	RGD:9068941	20250703	CTD		CTD Direct Evidence: marker/mechanism	
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9001272	Hoyeraal-Hreidarsson Syndrome		ISO	RGD:1353510	D	RGD:9068941	20260618	CTD		CTD Direct Evidence: marker/mechanism	PMID:17785587
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:70494	D	RGD:9068941	20200609	RGD		protein:increased expression, increased localization:nucleus	PMID:20353272|REF_RGD_ID:11038673
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9001733	Tinnitus		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:15814878|PMID:19561322|PMID:20301779|PMID:23901009|PMID:25741868|PMID:26365799|PMID:28154186|PMID:28492532|PMID:28813500|PMID:34019641
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:1353510	D	RGD:9068941	20200609	RGD			PMID:19545665|REF_RGD_ID:11038676
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	disease_progression	ISO	RGD:1353510	D	RGD:9068941	20200609	RGD			PMID:17344921|REF_RGD_ID:11038662
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1353510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19151717|PMID:21743467
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1353510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23535731
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		mRNA:increased expression:serum	PMID:17273731|REF_RGD_ID:2291989
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		protein:increased activity:ovary	PMID:10652422|REF_RGD_ID:2298564
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:17460043|PMID:20502709|PMID:22364217|PMID:22853774|PMID:25741868|PMID:28102861|PMID:28492532|PMID:30523342
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1353510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19151717
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:17644806|REF_RGD_ID:2291985
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9003507	Premature Birth		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:26158642|PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1353510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16968891
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9004118	Experimental Melanoma	treatment	ISO	RGD:70505	D	RGD:9068941	20200609	RGD			PMID:19903903|REF_RGD_ID:11038656
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9004268	Uterine Neoplasms		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		mRNA:increased expression:serum	PMID:17273731|REF_RGD_ID:2291989
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1353510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25383969
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD			PMID:12915632|REF_RGD_ID:2291994
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		mRNA:increased expression:plasma	PMID:14654933|REF_RGD_ID:2291969
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9004657	Weight Gain		ISO	RGD:1353510	D	RGD:9068941	20241205	CTD		CTD Direct Evidence: therapeutic	PMID:39265716
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9005077	Joint Instability		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1353510	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:11323394|PMID:19151717|PMID:23433592
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9005172	Lung Neoplasms	treatment	ISO	RGD:70505	D	RGD:9068941	20200609	RGD			PMID:19903903|REF_RGD_ID:11038656
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9005221	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1		ISO	RGD:1353510	D	RGD:7240710	20180130	OMIM			
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9005221	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1		ISO	RGD:1353510	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1	PMID:15814878|PMID:16199547|PMID:16247010|PMID:17392301|PMID:17460043|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20502709|PMID:20966039|PMID:21258621|PMID:21436073|PMID:21483807|PMID:21520173|PMID:21635204|PMID:21931702|PMID:22476886|PMID:22547674|PMID:22853774|PMID:23538340|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24833766|PMID:24983628|PMID:25108601|PMID:25271372|PMID:25346280|PMID:25741868|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26365799|PMID:26580448|PMID:26859482|PMID:27836952|PMID:28154186|PMID:28492532|PMID:28813500|PMID:29036293|PMID:29146883|PMID:29483670|PMID:30088779|PMID:30203795|PMID:30523342|PMID:30791107|PMID:31213647|PMID:31268371|PMID:33482595|PMID:33709208|PMID:34019641|PMID:34565437|PMID:35106810|PMID:35155181|PMID:35776903|PMID:36028256|PMID:37096215|PMID:37397566|PMID:37944684|PMID:39279213|PMID:39316766
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:70494	D	RGD:9068941	20200609	RGD			PMID:20031167|REF_RGD_ID:2316310
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9005969	Refractory Anemia with Excess of Blasts		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD			PMID:18426652|REF_RGD_ID:11038658
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9006945	Diabetic Cardiomyopathies	treatment	ISO	RGD:70494	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:21264070|REF_RGD_ID:11038677
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9006946	Nonimmune Chronic Idiopathic Neutropenia, Adult		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD			PMID:22133767|REF_RGD_ID:11038657
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353510	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:15814878|PMID:18302718|PMID:18460650|PMID:19561322|PMID:19760749|PMID:20301779|PMID:20502709|PMID:22853774|PMID:23901009|PMID:25741868|PMID:26024875|PMID:26365799|PMID:28154186|PMID:28492532|PMID:28813500|PMID:29483670
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353510	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:15814878|PMID:18302718|PMID:18460650|PMID:18635888|PMID:19561322|PMID:19760749|PMID:20044353|PMID:20301779|PMID:20502709|PMID:22853774|PMID:23901009|PMID:25741868|PMID:26024875|PMID:26365799|PMID:28154186|PMID:28492532|PMID:28495683|PMID:28813500|PMID:29483670
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16247010|PMID:17460043|PMID:25741868|PMID:28492532|PMID:31268371|PMID:35155181|PMID:36028256
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1353510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27064257
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		mRNA:increased expression:endometrium	PMID:11078809|REF_RGD_ID:2298562
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21483807|PMID:25741868|PMID:26136524|PMID:28492532|PMID:35106810
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9008163	Chronic Hepatitis B	susceptibility	ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype: :rs10069690,rs2242652(human)	PMID:29507683|REF_RGD_ID:14696786
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1353510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23535731
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		mRNA:increased expression:plasma	PMID:14654933|REF_RGD_ID:2291969
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:1353510	D	RGD:9068941	20200609	RGD			PMID:17974999|REF_RGD_ID:2291981
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:17616810|REF_RGD_ID:2291987
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9008939	Breast Neoplasms	susceptibility	ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-1381C>T,-659G>A,-244C>T (human)	PMID:17848914|REF_RGD_ID:2291983
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9009116	Urinary Bladder Neoplasm		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary Bladder Neoplasms	PMID:23348503|PMID:23348506|PMID:23530248|PMID:23764841|PMID:24030752|PMID:24154961|PMID:24174164|PMID:24260374|PMID:24337442|PMID:24705251|PMID:25217772|PMID:25268584|PMID:25314060|PMID:25741868|PMID:25862495|PMID:25977370|PMID:26061751|PMID:26061753|PMID:26143634|PMID:26143636|PMID:26171145|PMID:26194807|PMID:26466568|PMID:26523776|PMID:26875008|PMID:26941407|PMID:27442865|PMID:27993330|PMID:28181325|PMID:28284778|PMID:28401334|PMID:28467829|PMID:28481359|PMID:28726821|PMID:28912153|PMID:28966033|PMID:28990704|PMID:29105198|PMID:29449679|PMID:29532523|PMID:29763623|PMID:29987895|PMID:30051528|PMID:30165166|PMID:30178487|PMID:30240866|PMID:30523111|PMID:30599247|PMID:31147264|PMID:31408918|PMID:31789679|PMID:31837177|PMID:32226942|PMID:32291317|PMID:32619305|PMID:32782671|PMID:33056981|PMID:33543147|PMID:33753552|PMID:33994539|PMID:34103665|PMID:34411449|PMID:35101336|PMID:35535848|PMID:35705560|PMID:36505786|PMID:37296851|PMID:37871653|PMID:38016019|PMID:38053410|PMID:39592485
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1353510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26808113
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353510	D	RGD:7240710	20180130	OMIM			
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353510	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to	PMID:15814878|PMID:17460043|PMID:18042801|PMID:18460650|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19760749|PMID:19796246|PMID:20966039|PMID:21258621|PMID:21520173|PMID:21635204|PMID:22476886|PMID:23538340|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:26859482|PMID:28154186|PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353510	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to	PMID:15814878|PMID:17460043|PMID:18042801|PMID:18460650|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20966039|PMID:21258621|PMID:21520173|PMID:21635204|PMID:22476886|PMID:23538340|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:26859482|PMID:28154186|PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353510	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to	PMID:15814878|PMID:17460043|PMID:18042801|PMID:18460650|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20966039|PMID:21258621|PMID:21520173|PMID:21635204|PMID:22476886|PMID:22853774|PMID:23538340|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:26024875|PMID:26859482|PMID:28154186|PMID:28492532
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353510	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to	PMID:15814878|PMID:16332973|PMID:17460043|PMID:18042801|PMID:18460650|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20966039|PMID:21258621|PMID:21436073|PMID:21520173|PMID:21635204|PMID:22476886|PMID:22853774|PMID:23538340|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24833766|PMID:24983628|PMID:25108601|PMID:25741868|PMID:25785092|PMID:26024875|PMID:26859482|PMID:28154186|PMID:28492532|PMID:28873162|PMID:29483670|PMID:35776903
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to	PMID:15814878|PMID:16247010|PMID:17460043|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20966039|PMID:21436073|PMID:21520173|PMID:21635204|PMID:22476886|PMID:23538340|PMID:23901009|PMID:24033266|PMID:24833766|PMID:24983628|PMID:25108601|PMID:25346280|PMID:25741868|PMID:26136524|PMID:26158642|PMID:26365799|PMID:26580448|PMID:28154186|PMID:28492532|PMID:28813500|PMID:29036293|PMID:29483670|PMID:30088779|PMID:30523342|PMID:30791107|PMID:31268371|PMID:32191290|PMID:34019641|PMID:35155181|PMID:35776903|PMID:36028256|PMID:39316766
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353510	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: ETV6-related condition | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to	PMID:15814878|PMID:16247010|PMID:17460043|PMID:18042801|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20966039|PMID:21258621|PMID:21436073|PMID:21520173|PMID:21635204|PMID:22476886|PMID:23538340|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24833766|PMID:24983628|PMID:25108601|PMID:25346280|PMID:25741868|PMID:26136524|PMID:26158642|PMID:26365799|PMID:26580448|PMID:28154186|PMID:28492532|PMID:28813500|PMID:29036293|PMID:29483670|PMID:30088779|PMID:30523342|PMID:30791107|PMID:31268371|PMID:32191290|PMID:34019641|PMID:34565437|PMID:35155181|PMID:35776903|PMID:36028256|PMID:37096215|PMID:37944684|PMID:39316766
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1353510	D	RGD:9068941	20200609	RGD			PMID:23826993|REF_RGD_ID:11038655
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9253	gastrointestinal stromal tumor	susceptibility	ISO	RGD:1353510	D	RGD:9068941	20211217	RGD		DNA:SNP: :rs2736098(human)	PMID:26372813|REF_RGD_ID:11531869
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1353510	D	RGD:9068941	20211217	RGD		protein:increased expression:nasopharynx	PMID:26621837|REF_RGD_ID:11564613
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9513	plasma cell leukemia		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD			PMID:11237381|REF_RGD_ID:11038665
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9538	multiple myeloma		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD			PMID:11237381|REF_RGD_ID:11038665
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD			PMID:15621763|REF_RGD_ID:11038667
8838530	Tert	telomerase reverse transcriptase	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1353510	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter, introns:g.1296486C>T, g.12866516A>C, g.1279790G>A (rs2735940, rs2736100, rs10069690) (human)	PMID:23066086|REF_RGD_ID:11038654
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:0050425	restless legs syndrome		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Restless legs	PMID:21855841|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:0050591	tooth agenesis		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oligodontia	PMID:21855841|PMID:22819058|PMID:25339210|PMID:25741868|PMID:28492532|PMID:30898877|PMID:32600288
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	PMID:21855841|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:0050952	spastic ataxia		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:16199547|PMID:21855841|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30564185|PMID:30847471|PMID:31637490|PMID:31855841|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic pancreatitis	PMID:25741868
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:0060249	scoliosis		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:27029625|PMID:27506977|PMID:28492532|PMID:30847471|PMID:31438894|PMID:31932101|PMID:31940116|PMID:33134517|PMID:33644862|PMID:35586607|PMID:35691411|PMID:36397839|PMID:36596744
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:0060789	hypomyelinating leukodystrophy 4		ISO	RGD:1351863	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4	PMID:29389947
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:0060794	hypomyelinating leukodystrophy 7		ISO	RGD:1351863	D	RGD:7240710	20180130	OMIM			
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:0060794	hypomyelinating leukodystrophy 7		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HLD7 | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 | ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome | ClinVar Annotator: match by term: POLR3A-related condition | ClinVar Annotator: match by term: POLR3A-related disorder	PMID:16199547|PMID:17576681|PMID:21855841|PMID:22036171|PMID:22451160|PMID:22819058|PMID:22855961|PMID:23283657|PMID:23355746|PMID:23694757|PMID:23965854|PMID:25339210|PMID:25741868|PMID:26096995|PMID:26752647|PMID:27029625|PMID:27506977|PMID:27521716|PMID:27535217|PMID:27612211|PMID:28334938|PMID:28407788|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29451896|PMID:29618326|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30564185|PMID:30838315|PMID:30847471|PMID:30898877|PMID:30921766|PMID:31438894|PMID:31637490|PMID:31855841|PMID:31932101|PMID:31940116|PMID:32373668|PMID:32483275|PMID:32582862|PMID:32597037|PMID:32600288|PMID:33085208|PMID:33134517|PMID:33491183|PMID:33644862|PMID:33669240|PMID:33879512|PMID:33972714|PMID:34284285|PMID:34296356|PMID:34302356|PMID:34445196|PMID:34589056|PMID:34611991|PMID:34753215|PMID:34758253|PMID:35012964|PMID:35032046|PMID:35586607|PMID:35691411|PMID:36140376|PMID:36344503|PMID:36385762|PMID:36397839|PMID:36530930|PMID:36596744|PMID:36825045|PMID:37152446|PMID:37197783|PMID:37237429|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281|PMID:614258|PMID:9536098
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:0060797	hypomyelinating leukodystrophy 8		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome	PMID:21855841|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:0080918	polymicrogyria		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868|PMID:28492532|PMID:31637490
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:0081333	Wiedemann-Rautenstrauch syndrome		ISO	RGD:1351863	D	RGD:7240710	20190612	OMIM			
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:0081333	Wiedemann-Rautenstrauch syndrome		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome | ClinVar Annotator: match by term: POLR3A-related disorders | ClinVar Annotator: match by term: WIEDEMANN-RAUTENSTRAUCH SYNDROME | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch Syndrome | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome	PMID:16199547|PMID:17576681|PMID:21855841|PMID:22036171|PMID:22451160|PMID:22855961|PMID:23355746|PMID:23965854|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27506977|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30564185|PMID:30847471|PMID:31438894|PMID:31637490|PMID:31855841|PMID:31932101|PMID:31940116|PMID:32373668|PMID:32555393|PMID:32582862|PMID:32597037|PMID:33085208|PMID:33134517|PMID:33491183|PMID:33644862|PMID:33669240|PMID:33879512|PMID:33972714|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:35586607|PMID:35691411|PMID:36344503|PMID:36397839|PMID:36530930|PMID:36596744|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281|PMID:614258|PMID:9536098
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	PMID:25339210|PMID:25741868|PMID:27029625|PMID:27506977|PMID:28492532|PMID:30847471|PMID:31438894|PMID:31932101|PMID:31940116|PMID:33134517|PMID:33644862|PMID:35586607|PMID:35691411|PMID:36397839|PMID:36596744
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868|PMID:27029625|PMID:27506977|PMID:28492532|PMID:29389947|PMID:30847471|PMID:31438894|PMID:31932101|PMID:31940116|PMID:33134517|PMID:33644862|PMID:35586607|PMID:35691411|PMID:36397839|PMID:36596744
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:10534	stomach cancer		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:10579	leukodystrophy		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leukodystrophy | ClinVar Annotator: match by term: POLR-related leukodystrophy	PMID:16199547|PMID:21855841|PMID:22036171|PMID:22451160|PMID:22819058|PMID:22855961|PMID:23355746|PMID:23965854|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30564185|PMID:30847471|PMID:30898877|PMID:31637490|PMID:31855841|PMID:32373668|PMID:32597037|PMID:32600288|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37077564|PMID:37152446|PMID:37197783|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:1059	intellectual disability		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:29389947
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:10907	microcephaly		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:27029625|PMID:27506977|PMID:28492532|PMID:29389947|PMID:30847471|PMID:31438894|PMID:31637490|PMID:31932101|PMID:31940116|PMID:33134517|PMID:33644862|PMID:35586607|PMID:35691411|PMID:36397839|PMID:36596744
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:10908	hydrocephalus		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:1115	sarcoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:11162	respiratory failure		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:1143	exotropia		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:1324	lung cancer		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:1389	polyneuropathy		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:21855841|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:1826	epilepsy		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:21855841|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29389947|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:1891	optic nerve disease		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic neuropathy	PMID:25741868|PMID:28492532|PMID:31637490
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:1909	melanoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16199547|PMID:21855841|PMID:25339210|PMID:27612211|PMID:28492532|PMID:30414627|PMID:30450527
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:2491	sensory peripheral neuropathy		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sensory neuropathy	PMID:21855841|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:3275	thymoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:4362	cervical cancer		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:480	movement disease		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Movement disorders	PMID:21855841|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:4989	pancreatitis		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pancreatitis	PMID:25741868
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:5041	esophageal cancer		ISO	RGD:1351863	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:540	strabismus		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:21855841|PMID:22819058|PMID:25339210|PMID:25741868|PMID:28492532|PMID:30898877|PMID:32600288
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:543	dystonia		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder	PMID:16199547|PMID:21855841|PMID:22855961|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27506977|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30564185|PMID:30847471|PMID:31438894|PMID:31637490|PMID:31932101|PMID:31940116|PMID:32214227|PMID:32373668|PMID:32582862|PMID:32597037|PMID:32860008|PMID:33085208|PMID:33134517|PMID:33491183|PMID:33644862|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:35586607|PMID:35691411|PMID:36344503|PMID:36397839|PMID:36530930|PMID:36596744|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281|PMID:614258
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:543	dystonia		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:16199547|PMID:21855841|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27506977|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30564185|PMID:30847471|PMID:31438894|PMID:31637490|PMID:31932101|PMID:31940116|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33134517|PMID:33491183|PMID:33644862|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:35586607|PMID:35691411|PMID:36344503|PMID:36397839|PMID:36530930|PMID:36596744|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:27029625|PMID:27506977|PMID:28492532|PMID:30847471|PMID:31438894|PMID:31932101|PMID:31940116|PMID:33134517|PMID:33644862|PMID:35586607|PMID:35691411|PMID:36397839|PMID:36596744
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:6039	uveal melanoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:630	genetic disease		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21855841|PMID:25339210|PMID:25741868|PMID:26752647|PMID:27029625|PMID:27506977|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31438894|PMID:31637490|PMID:31932101|PMID:31940116|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33134517|PMID:33491183|PMID:33644862|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:35586607|PMID:35691411|PMID:36344503|PMID:36397839|PMID:36530930|PMID:36596744|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:850	lung disease		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:25741868
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:870	neuropathy		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:21855841|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:27029625|PMID:27506977|PMID:28492532|PMID:30847471|PMID:31438894|PMID:31932101|PMID:31940116|PMID:33134517|PMID:33644862|PMID:35586607|PMID:35691411|PMID:36397839|PMID:36596744
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9000495	Tremor		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tremor | ClinVar Annotator: match by term: tremors	PMID:16199547|PMID:21855841|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30564185|PMID:30847471|PMID:31637490|PMID:31855841|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9001581	Constipation		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9001722	Dysarthria		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:27029625|PMID:27506977|PMID:28492532|PMID:30847471|PMID:31438894|PMID:31932101|PMID:31940116|PMID:33134517|PMID:33644862|PMID:35586607|PMID:35691411|PMID:36397839|PMID:36596744
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868|PMID:28492532|PMID:31637490
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:21855841|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:27029625|PMID:27506977|PMID:28492532|PMID:30847471|PMID:31438894|PMID:31932101|PMID:31940116|PMID:33134517|PMID:33644862|PMID:35586607|PMID:35691411|PMID:36397839|PMID:36596744
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9003132	Sialorrhea		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868|PMID:28492532|PMID:31637490
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9003242	Paresthesia		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Paresthesia	PMID:21855841|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9004034	Alacrima		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Alacrima	PMID:25741868
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9004866	Ataxia		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Dyssynergia | ClinVar Annotator: match by term: Limb ataxia	PMID:16199547|PMID:21855841|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29389947|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30564185|PMID:30847471|PMID:31637490|PMID:31855841|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868|PMID:27029625|PMID:27506977|PMID:28492532|PMID:30847471|PMID:31438894|PMID:31932101|PMID:31940116|PMID:33134517|PMID:33644862|PMID:35586607|PMID:35691411|PMID:36397839|PMID:36596744
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:21855841|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:27029625|PMID:27506977|PMID:28492532|PMID:30847471|PMID:31438894|PMID:31637490|PMID:31932101|PMID:31940116|PMID:33134517|PMID:33644862|PMID:35586607|PMID:35691411|PMID:36397839|PMID:36596744
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic gait	PMID:16199547|PMID:21855841|PMID:25339210|PMID:25741868|PMID:27612211|PMID:28492532|PMID:30323018|PMID:30414627|PMID:30450527|PMID:31855841
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:16199547|PMID:21855841|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30564185|PMID:30847471|PMID:31637490|PMID:31855841|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9007661	Dwarfism		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9007722	Myoclonus		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:16199547|PMID:21855841|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25339210|PMID:25741868|PMID:27029625|PMID:27506977|PMID:28492532|PMID:30847471|PMID:31438894|PMID:31637490|PMID:31932101|PMID:31940116|PMID:33134517|PMID:33644862|PMID:35586607|PMID:35691411|PMID:36397839|PMID:36596744
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9009047	Laryngeal Cleft		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Laryngeal cleft	PMID:25741868
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: CEBPA-related disorder	PMID:16199547|PMID:21855841|PMID:25339210|PMID:25741868|PMID:27612211|PMID:28492532|PMID:30323018|PMID:30414627|PMID:30450527|PMID:31855841
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532|PMID:31637490
8838553	Polr3a	RNA polymerase III subunit A	gene	DOID:9840	esotropia		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868|PMID:28492532|PMID:31637490
8838597	Ipcef1	interaction protein for cytohesin exchange factors 1	gene	DOID:1037	lymphoid leukemia		ISO	RGD:1603404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24292274
8838597	Ipcef1	interaction protein for cytohesin exchange factors 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1603404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
8838597	Ipcef1	interaction protein for cytohesin exchange factors 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603404	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8838597	Ipcef1	interaction protein for cytohesin exchange factors 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:0050952	spastic ataxia		ISO	RGD:1318772	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:28492532|PMID:34445196
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:0110734	neurodegeneration with brain iron accumulation		ISO	RGD:1318772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation	PMID:20853438|PMID:25741868|PMID:27217339|PMID:27316240|PMID:28492532|PMID:31135052|PMID:32907636|PMID:33059505|PMID:36109173
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1318772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:15337768|PMID:20104589|PMID:25741868|PMID:28492532|PMID:31130284|PMID:33246395|PMID:36002593|PMID:38275596
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:0110786	hereditary spastic paraplegia 35		ISO	RGD:1318772	D	RGD:7240710	20180130	OMIM			
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:0110786	hereditary spastic paraplegia 35		ISO	RGD:1318772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FA2H-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 35 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION | ClinVar Annotator: match by term: Spastic paraplegia 35	PMID:15337768|PMID:16199547|PMID:17576681|PMID:19068277|PMID:20104589|PMID:20853438|PMID:22965561|PMID:23566484|PMID:23812641|PMID:24299421|PMID:25326637|PMID:25496456|PMID:25732363|PMID:25741868|PMID:26344562|PMID:26467025|PMID:26944241|PMID:27217339|PMID:27316240|PMID:28017243|PMID:28492532|PMID:29423566|PMID:29590070|PMID:30446360|PMID:30532373|PMID:30713878|PMID:31130284|PMID:31135052|PMID:31407473|PMID:31429931|PMID:31690835|PMID:32619247|PMID:32907636|PMID:33059505|PMID:33083013|PMID:33144682|PMID:33246395|PMID:33528536|PMID:34445196|PMID:34852264|PMID:35872528|PMID:36002593|PMID:36109173|PMID:36790591|PMID:38127101|PMID:38275596|PMID:38703036|PMID:9536098
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:1059	intellectual disability		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:20104589|PMID:20853438|PMID:25496456|PMID:25732363|PMID:25741868|PMID:26344562|PMID:26944241|PMID:28492532|PMID:30713878|PMID:33144682|PMID:36790591
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:12143	neurogenic bladder		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurogenic bladder	PMID:25741868
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1318772	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia	PMID:18414213|PMID:24033266|PMID:24299421|PMID:24833714|PMID:25356970|PMID:25741868|PMID:26467025|PMID:27217339|PMID:27957547|PMID:28017243|PMID:28492532|PMID:30713878|PMID:31135052|PMID:31429931|PMID:32624042|PMID:33144682|PMID:34983064|PMID:35578252
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1318772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:23812641|PMID:24033266|PMID:24299421|PMID:24833714|PMID:25741868|PMID:26467025|PMID:27217339|PMID:28017243|PMID:28492532|PMID:29590070|PMID:30713878|PMID:31135052|PMID:31429931|PMID:33144682|PMID:35578252|PMID:36790591|PMID:37573804
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:543	dystonia		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:585	nephrolithiasis		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis	PMID:25741868|PMID:28492532|PMID:29980238|PMID:31135052|PMID:31227335|PMID:31429931|PMID:31628766|PMID:36790591
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:607	paraplegia		ISO	RGD:1318772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:15337768|PMID:16199547|PMID:17576681|PMID:20104589|PMID:20853438|PMID:22965561|PMID:23812641|PMID:24299421|PMID:25496456|PMID:25732363|PMID:25741868|PMID:26344562|PMID:26467025|PMID:27165006|PMID:27217339|PMID:27316240|PMID:28492532|PMID:29423566|PMID:29590070|PMID:30446360|PMID:30532373|PMID:30564185|PMID:30713878|PMID:31130284|PMID:31135052|PMID:31407473|PMID:31429931|PMID:32907636|PMID:33059505|PMID:33083013|PMID:33144682|PMID:33246395|PMID:33528536|PMID:34445196|PMID:34852264|PMID:35872528|PMID:36002593|PMID:36109173|PMID:36790591|PMID:37573804|PMID:38127101|PMID:38275596|PMID:9536098
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:630	genetic disease		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31135052|PMID:31429931|PMID:33144682|PMID:36790591|PMID:9536098
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:767	muscular atrophy		ISO	RGD:1318772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:15337768|PMID:20104589|PMID:25741868|PMID:28492532|PMID:31130284|PMID:33246395|PMID:36002593|PMID:38275596
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9000727	Syncope		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:25741868
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9001722	Dysarthria		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:20853438|PMID:25496456|PMID:25732363|PMID:25741868|PMID:26344562|PMID:28492532|PMID:29423566|PMID:30713878|PMID:31130284|PMID:31135052|PMID:31429931|PMID:33083013|PMID:33144682|PMID:34852264|PMID:36790591|PMID:38127101
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1318772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:15337768|PMID:20104589|PMID:25741868|PMID:28492532|PMID:31130284|PMID:33246395|PMID:36002593|PMID:38275596
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:25741868|PMID:28492532|PMID:29423566|PMID:30713878|PMID:31130284|PMID:31135052|PMID:33083013|PMID:34852264|PMID:38127101
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9004866	Ataxia		ISO	RGD:1318772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:15337768|PMID:20104589|PMID:20853438|PMID:25496456|PMID:25732363|PMID:25741868|PMID:26344562|PMID:28492532|PMID:31130284|PMID:31135052|PMID:31429931|PMID:33144682|PMID:33246395|PMID:36002593|PMID:36790591|PMID:38275596
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1318772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:15337768|PMID:20104589|PMID:25741868|PMID:28492532|PMID:31130284|PMID:33246395|PMID:36002593|PMID:38275596
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1318772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:15337768|PMID:20104589|PMID:25741868|PMID:28492532|PMID:31130284|PMID:33246395|PMID:36002593|PMID:38275596
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1318772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: urinary incontinence	PMID:25741868
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1318772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:15337768|PMID:20104589|PMID:25741868|PMID:28492532|PMID:31130284|PMID:33246395|PMID:36002593|PMID:38275596
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:15337768|PMID:20104589|PMID:25741868|PMID:26944241|PMID:28492532|PMID:30713878|PMID:31130284|PMID:33144682|PMID:33246395|PMID:36002593|PMID:38275596
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8838666	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9884	muscular dystrophy		ISO	RGD:1318772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:15337768|PMID:20104589|PMID:25741868|PMID:28492532|PMID:31130284|PMID:33246395|PMID:36002593|PMID:38275596
8838681	Erf	ETS2 repressor factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8838681	Erf	ETS2 repressor factor	gene	DOID:0061010	craniosynostosis 1		ISO	RGD:1323738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: TWIST1-related craniosynostosis	PMID:17576681|PMID:23354439|PMID:2370745|PMID:25741868|PMID:26097063|PMID:27738187|PMID:28492532|PMID:28808027|PMID:30758909|PMID:31754721|PMID:31785789|PMID:35852485|PMID:38824261|PMID:39668184|PMID:9536098
8838681	Erf	ETS2 repressor factor	gene	DOID:0061012	craniosynostosis 4		ISO	RGD:1323738	D	RGD:7240710	20190327	OMIM			
8838681	Erf	ETS2 repressor factor	gene	DOID:0061012	craniosynostosis 4		ISO	RGD:1323738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CRANIOSYNOSTOSIS 4 | ClinVar Annotator: match by term: Craniosynostosis 4	PMID:23354439|PMID:25741868|PMID:28492532
8838681	Erf	ETS2 repressor factor	gene	DOID:0080833	laryngomalacia		ISO	RGD:1323738	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868|PMID:27738187|PMID:30569521|PMID:30728880|PMID:30758909|PMID:32592542|PMID:35852485
8838681	Erf	ETS2 repressor factor	gene	DOID:0080918	polymicrogyria		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:23354439|PMID:25741868|PMID:28492532
8838681	Erf	ETS2 repressor factor	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:23354439|PMID:25741868|PMID:28492532
8838681	Erf	ETS2 repressor factor	gene	DOID:1059	intellectual disability		ISO	RGD:1323738	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:23354439|PMID:25741868|PMID:26097063|PMID:27738187|PMID:28492532|PMID:28808027|PMID:30569521|PMID:30728880|PMID:30758909|PMID:32592542|PMID:35591945|PMID:35852485
8838681	Erf	ETS2 repressor factor	gene	DOID:1059	intellectual disability		ISO	RGD:1323738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:27738187|PMID:30569521|PMID:30728880|PMID:30758909|PMID:32592542|PMID:35852485
8838681	Erf	ETS2 repressor factor	gene	DOID:10907	microcephaly		ISO	RGD:1323738	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:27738187|PMID:30569521|PMID:30728880|PMID:30758909|PMID:32592542|PMID:35852485
8838681	Erf	ETS2 repressor factor	gene	DOID:11383	cryptorchidism		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
8838681	Erf	ETS2 repressor factor	gene	DOID:12849	autistic disorder		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
8838681	Erf	ETS2 repressor factor	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1323738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	
8838681	Erf	ETS2 repressor factor	gene	DOID:1657	ventricular septal defect		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
8838681	Erf	ETS2 repressor factor	gene	DOID:1969	cerebral palsy		ISO	RGD:1323738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
8838681	Erf	ETS2 repressor factor	gene	DOID:2340	craniosynostosis		ISO	RGD:1323738	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis	PMID:23354439|PMID:25741868|PMID:26097063|PMID:28492532|PMID:28808027|PMID:30758909|PMID:31785789
8838681	Erf	ETS2 repressor factor	gene	DOID:2340	craniosynostosis		ISO	RGD:1323738	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Lambdoid synostosis | ClinVar Annotator: match by term: Syndromic craniosynostosis	PMID:17576681|PMID:23354439|PMID:25741868|PMID:25741905|PMID:26097063|PMID:27738187|PMID:28492532|PMID:28808027|PMID:29215649|PMID:29758562|PMID:30758909|PMID:31754721|PMID:31785789|PMID:32370745|PMID:9536098
8838681	Erf	ETS2 repressor factor	gene	DOID:2340	craniosynostosis		ISO	RGD:1323738	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Lambdoid synostosis | ClinVar Annotator: match by term: Syndromic craniosynostosis	PMID:17576681|PMID:23354439|PMID:25741868|PMID:26097063|PMID:27738187|PMID:28492532|PMID:28808027|PMID:29215649|PMID:29758562|PMID:30758909|PMID:31754721|PMID:31785789|PMID:32370745|PMID:9536098
8838681	Erf	ETS2 repressor factor	gene	DOID:2340	craniosynostosis		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Lambdoidal craniosynostosis	PMID:23354439|PMID:25741868|PMID:26097063|PMID:27738187|PMID:28492532|PMID:30758909|PMID:31837199|PMID:32901917|PMID:35852485
8838681	Erf	ETS2 repressor factor	gene	DOID:3070	high grade glioma		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8838681	Erf	ETS2 repressor factor	gene	DOID:3490	Noonan syndrome		ISO	RGD:1323738	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Noonan syndrome	
8838681	Erf	ETS2 repressor factor	gene	DOID:4362	cervical cancer		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8838681	Erf	ETS2 repressor factor	gene	DOID:540	strabismus		ISO	RGD:1323738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Strabismus	
8838681	Erf	ETS2 repressor factor	gene	DOID:630	genetic disease		ISO	RGD:1323738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23354439|PMID:25741868|PMID:27738187|PMID:28492532|PMID:30569521|PMID:30728880|PMID:30758909|PMID:32370745|PMID:32592542|PMID:35852485|PMID:38824261
8838681	Erf	ETS2 repressor factor	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1323738	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:27738187|PMID:30569521|PMID:30728880|PMID:30758909|PMID:32592542|PMID:35852485
8838681	Erf	ETS2 repressor factor	gene	DOID:9000660	Choristoma		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectopic tissue	PMID:23354439|PMID:25741868|PMID:28492532
8838681	Erf	ETS2 repressor factor	gene	DOID:9001031	Retrognathia		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	
8838681	Erf	ETS2 repressor factor	gene	DOID:9001260	CHITAYAT SYNDROME		ISO	RGD:1323738	D	RGD:7240710	20190315	OMIM			
8838681	Erf	ETS2 repressor factor	gene	DOID:9001260	CHITAYAT SYNDROME		ISO	RGD:1323738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chitayat syndrome	PMID:23354439|PMID:25741868|PMID:27738187|PMID:28492532|PMID:30569521|PMID:30728880|PMID:30758909|PMID:32592542|PMID:35852485
8838681	Erf	ETS2 repressor factor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
8838681	Erf	ETS2 repressor factor	gene	DOID:9001471	Anorectal Malformations		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anorectal anomaly	
8838681	Erf	ETS2 repressor factor	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1323738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chiari type I malformation	PMID:23354439|PMID:25741868|PMID:28492532
8838681	Erf	ETS2 repressor factor	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:23354439|PMID:25741868|PMID:28492532
8838681	Erf	ETS2 repressor factor	gene	DOID:9002082	Prolonged Pregnancy		ISO	RGD:1323738	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Postterm pregnancy	PMID:25741868|PMID:27738187|PMID:30569521|PMID:30728880|PMID:30758909|PMID:32592542|PMID:35852485
8838681	Erf	ETS2 repressor factor	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1323738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
8838681	Erf	ETS2 repressor factor	gene	DOID:9003091	Noonan Like Syndrome		ISO	RGD:1323738	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS | ClinVar Annotator: match by term: Noonan Syndrome-like developmental disorder	PMID:23354439|PMID:25741868|PMID:27738187|PMID:28492532|PMID:28808027|PMID:29758562|PMID:30758909|PMID:32370745|PMID:35852485
8838681	Erf	ETS2 repressor factor	gene	DOID:9003091	Noonan Like Syndrome		ISO	RGD:1323738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Noonan Syndrome-like developmental disorder | ClinVar Annotator: match by term: Noonan Syndrome-like disorder | ClinVar Annotator: match by term: Noonan-like syndrome	PMID:23354439|PMID:25741868|PMID:26097063|PMID:27738187|PMID:28492532|PMID:28808027|PMID:29758562|PMID:30758909|PMID:32370745|PMID:35591945|PMID:35852485|PMID:38824261
8838681	Erf	ETS2 repressor factor	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intracranial hemorrhage	
8838681	Erf	ETS2 repressor factor	gene	DOID:9003133	Hypertelorism		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:23354439|PMID:25741868|PMID:27738187|PMID:28492532|PMID:28808027|PMID:30758909|PMID:35852485
8838681	Erf	ETS2 repressor factor	gene	DOID:9003507	Premature Birth		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
8838681	Erf	ETS2 repressor factor	gene	DOID:9004327	Colpocephaly		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colpocephaly	PMID:23354439|PMID:25741868|PMID:28492532
8838681	Erf	ETS2 repressor factor	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1323738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23354439
8838681	Erf	ETS2 repressor factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323738	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:23354439|PMID:25741868|PMID:26097063|PMID:28492532|PMID:28808027|PMID:30758909|PMID:35591945
8838681	Erf	ETS2 repressor factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838681	Erf	ETS2 repressor factor	gene	DOID:9007661	Dwarfism		ISO	RGD:1323738	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:27738187|PMID:30569521|PMID:30728880|PMID:30758909|PMID:32592542|PMID:35852485
8838681	Erf	ETS2 repressor factor	gene	DOID:9007817	Macroglossia		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:23354439|PMID:25741868|PMID:26097063|PMID:28492532|PMID:28808027
8838681	Erf	ETS2 repressor factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27738187|PMID:30569521|PMID:30728880|PMID:30758909|PMID:32592542|PMID:35852485
8838681	Erf	ETS2 repressor factor	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1323738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23354439
8838681	Erf	ETS2 repressor factor	gene	DOID:93	language disorder		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:23354439|PMID:25741868|PMID:28492532
8838681	Erf	ETS2 repressor factor	gene	DOID:930	orbital disease		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	
8838681	Erf	ETS2 repressor factor	gene	DOID:936	brain disease		ISO	RGD:1323738	D	RGD:8554872	20230502	ClinVar		ClinVar Annotator: match by term: Neonatal encephalopathy	PMID:25741868
8838681	Erf	ETS2 repressor factor	gene	DOID:9538	multiple myeloma		ISO	RGD:1323738	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
8838681	Erf	ETS2 repressor factor	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	
8838681	Erf	ETS2 repressor factor	gene	DOID:9667	placental abruption		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Placental abruption	
8838696	Lpar3	lysophosphatidic acid receptor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1323219	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8838696	Lpar3	lysophosphatidic acid receptor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8838696	Lpar3	lysophosphatidic acid receptor 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8838696	Lpar3	lysophosphatidic acid receptor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838696	Lpar3	lysophosphatidic acid receptor 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8838703	Nr2f6	nuclear receptor subfamily 2 group F member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8838703	Nr2f6	nuclear receptor subfamily 2 group F member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8838703	Nr2f6	nuclear receptor subfamily 2 group F member 6	gene	DOID:289	endometriosis		ISO	RGD:733507	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
8838703	Nr2f6	nuclear receptor subfamily 2 group F member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:733507	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8838703	Nr2f6	nuclear receptor subfamily 2 group F member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838703	Nr2f6	nuclear receptor subfamily 2 group F member 6	gene	DOID:6039	uveal melanoma		ISO	RGD:733507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8838703	Nr2f6	nuclear receptor subfamily 2 group F member 6	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733507	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11850205
8838703	Nr2f6	nuclear receptor subfamily 2 group F member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8838711	Erich3	glutamate rich 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8838711	Erich3	glutamate rich 3	gene	DOID:10534	stomach cancer		ISO	RGD:1603912	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8838711	Erich3	glutamate rich 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838711	Erich3	glutamate rich 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838711	Erich3	glutamate rich 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8838738	Trmt10c	tRNA methyltransferase 10C, mitochondrial RNase P subunit	gene	DOID:0111471	combined oxidative phosphorylation deficiency 30		ISO	RGD:1314894	D	RGD:7240710	20190315	OMIM			
8838738	Trmt10c	tRNA methyltransferase 10C, mitochondrial RNase P subunit	gene	DOID:0111471	combined oxidative phosphorylation deficiency 30		ISO	RGD:1314894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 | ClinVar Annotator: match by term: TRMT10C-related condition	PMID:27132592|PMID:28492532
8838738	Trmt10c	tRNA methyltransferase 10C, mitochondrial RNase P subunit	gene	DOID:1909	melanoma		ISO	RGD:1314894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8838738	Trmt10c	tRNA methyltransferase 10C, mitochondrial RNase P subunit	gene	DOID:3650	lactic acidosis		ISO	RGD:1314894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	
8838738	Trmt10c	tRNA methyltransferase 10C, mitochondrial RNase P subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838738	Trmt10c	tRNA methyltransferase 10C, mitochondrial RNase P subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
8838738	Trmt10c	tRNA methyltransferase 10C, mitochondrial RNase P subunit	gene	DOID:9006617	Fatigue		ISO	RGD:1314894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	
8838738	Trmt10c	tRNA methyltransferase 10C, mitochondrial RNase P subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8838773	Nucb1	nucleobindin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8838773	Nucb1	nucleobindin 1	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:734023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25811541
8838773	Nucb1	nucleobindin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8838773	Nucb1	nucleobindin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8838773	Nucb1	nucleobindin 1	gene	DOID:1324	lung cancer		ISO	RGD:734023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8838773	Nucb1	nucleobindin 1	gene	DOID:1909	melanoma		ISO	RGD:734023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8838773	Nucb1	nucleobindin 1	gene	DOID:3275	thymoma		ISO	RGD:734023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8838773	Nucb1	nucleobindin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:734023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8838773	Nucb1	nucleobindin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838773	Nucb1	nucleobindin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734023	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8838773	Nucb1	nucleobindin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838790	Ccdc190	coiled-coil domain containing 190	gene	DOID:5041	esophageal cancer		ISO	RGD:1606402	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8838815	Mcts1	MCTS1 re-initiation and release factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8838815	Mcts1	MCTS1 re-initiation and release factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8838815	Mcts1	MCTS1 re-initiation and release factor	gene	DOID:0061084	immunodeficiency 118		ISO	RGD:1351081	D	RGD:7240710	20240131	OMIM			
8838815	Mcts1	MCTS1 re-initiation and release factor	gene	DOID:0061084	immunodeficiency 118		ISO	RGD:1351081	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 118	
8838815	Mcts1	MCTS1 re-initiation and release factor	gene	DOID:10534	stomach cancer		ISO	RGD:1351081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8838815	Mcts1	MCTS1 re-initiation and release factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8838815	Mcts1	MCTS1 re-initiation and release factor	gene	DOID:3070	high grade glioma		ISO	RGD:1351081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8838815	Mcts1	MCTS1 re-initiation and release factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838815	Mcts1	MCTS1 re-initiation and release factor	gene	DOID:630	genetic disease		ISO	RGD:1351081	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8838815	Mcts1	MCTS1 re-initiation and release factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838815	Mcts1	MCTS1 re-initiation and release factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8838835	Scamp3	secretory carrier membrane protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8838835	Scamp3	secretory carrier membrane protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:68495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8838835	Scamp3	secretory carrier membrane protein 3	gene	DOID:1324	lung cancer		ISO	RGD:68495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8838835	Scamp3	secretory carrier membrane protein 3	gene	DOID:1909	melanoma		ISO	RGD:68495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8838835	Scamp3	secretory carrier membrane protein 3	gene	DOID:3275	thymoma		ISO	RGD:68495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8838835	Scamp3	secretory carrier membrane protein 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:68495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8838835	Scamp3	secretory carrier membrane protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838835	Scamp3	secretory carrier membrane protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8838835	Scamp3	secretory carrier membrane protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838835	Scamp3	secretory carrier membrane protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8838849	Tnfsf18	TNF superfamily member 18	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8838854	Lrfn2	leucine rich repeat and fibronectin type III domain containing 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1323494	D	RGD:9068941	20220825	MouseDO			
8838854	Lrfn2	leucine rich repeat and fibronectin type III domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8838854	Lrfn2	leucine rich repeat and fibronectin type III domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:736622	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25811541
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:0050852	limb ischemia	treatment	ISO	RGD:3438	D	RGD:9068941	20240201	RGD		rat gene in human cells in a mouse model	PMID:19344900|REF_RGD_ID:401960096
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:0050852	limb ischemia	treatment	ISO	RGD:736622	D	RGD:9068941	20240201	RGD		human gene in a mouse model	PMID:12586736|PMID:14568901|REF_RGD_ID:401959585|REF_RGD_ID:401960079
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:0050860	colorectal adenoma	susceptibility	ISO	RGD:736622	D	RGD:9068941	20220204	RGD		DNA:repeats:promoter:	PMID:16537708|REF_RGD_ID:151347835
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:736622	D	RGD:9068941	20220204	RGD		mRNA,protein:decreased expression:mouth mucosa (human)	PMID:30532780|REF_RGD_ID:151347832
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736622	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736622	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:0080491	cerebral cavernous malformation 1	exacerbates	ISO	RGD:736622	D	RGD:9068941	20240201	RGD		DNA:silent mutation:CDS:p.L256L (rs5628) (human)	PMID:26795600|REF_RGD_ID:401960081
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:10534	stomach cancer		ISO	RGD:736622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:10763	hypertension		ISO	RGD:3438	D	RGD:9068941	20240201	RGD		mRNA:increased expression:aortic endothelial cell (rat)	PMID:18056786|REF_RGD_ID:401960082
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:10763	hypertension		ISO	RGD:736622	D	RGD:9068941	20200609	RGD			PMID:12372404|REF_RGD_ID:1298040
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:10763	hypertension		ISO	RGD:736622	D	RGD:9068941	20240125	RGD		DNA:repeat:promoter:g.-6(CCGCCAGCC)3-4 (human)	PMID:10577996|REF_RGD_ID:401959586
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:736622	D	RGD:9068941	20240125	RGD		DNA:SNP:exon 8:g.1117C>A (rs6095558) (human)	PMID:17070428|REF_RGD_ID:401959383
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:10825	essential hypertension		ISO	RGD:736622	D	RGD:7240710	20180130	OMIM			
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:10825	essential hypertension		ISO	RGD:736622	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Essential hypertension | ClinVar Annotator: match by term: HYPERTENSION, ESSENTIAL	PMID:25741868
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:1115	sarcoma		ISO	RGD:736622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:13001	carotid stenosis		ISO	RGD:736622	D	RGD:9068941	20240125	RGD		associated with cerebral infarction;DNA:SNP:3' utr: (rs5602) (human)	PMID:28704403|REF_RGD_ID:401959402
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:736622	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19336370
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:13832	patent ductus arteriosus	susceptibility	ISO	RGD:736622	D	RGD:9068941	20240125	RGD		DNA:SNP, haplotype:intron: (rs493694) (human)	PMID:19336370|REF_RGD_ID:401959325
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:14330	Parkinson's disease	treatment	ISO	RGD:736622	D	RGD:9068941	20240201	RGD		human gene in a rat model	PMID:23691265|REF_RGD_ID:401959749
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:736622	D	RGD:9068941	20231130	RGD		DNA:SNP, missense mutations:intron 4, CDS:c.521+1G>A, p.R252Q (c.755G>A), p.A447T (c.1339G>A) (, rs759344518, rs146531327) (human)	PMID:32236489|REF_RGD_ID:401901150
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:1909	melanoma		ISO	RGD:736622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:1936	atherosclerosis		ISO	RGD:736622	D	RGD:9068941	20240125	RGD		mRNA:decreased expression:artery (human)	PMID:22112851|REF_RGD_ID:401959395
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:219	colon cancer	exacerbates	ISO	RGD:11183	D	RGD:9068941	20220204	RGD			PMID:26611322|REF_RGD_ID:11536046
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:3438	D	RGD:9068941	20240201	RGD			PMID:27834752|REF_RGD_ID:401960086
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:2316	brain ischemia		ISO	RGD:3438	D	RGD:9068941	20200609	RGD			PMID:16094316|REF_RGD_ID:8693629
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:3526	cerebral infarction		ISO	RGD:736622	D	RGD:9068941	20231130	RGD		DNA:SNP, haplotype:3' utr: (rs5602) (human)	PMID:28478978|REF_RGD_ID:401901149
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:3526	cerebral infarction		ISO	RGD:736622	D	RGD:9068941	20231207	RGD		DNA:repeat:promoter:g.-6(CCGCCAGCC)3-7 (human)	PMID:11130769|REF_RGD_ID:401901269
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:3526	cerebral infarction	exacerbates	ISO	RGD:736622	D	RGD:9068941	20240125	RGD		DNA:SNPs:exon, 3' utr: (rs5629, rs5602) (human)	PMID:28108096|REF_RGD_ID:401959400
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:3526	cerebral infarction	treatment	ISO	RGD:3438	D	RGD:9068941	20231207	RGD			PMID:11997284|REF_RGD_ID:401901194
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:736622	D	RGD:9068941	20220204	RGD		protein:decreased expression:lung (human)	PMID:16314486|REF_RGD_ID:151347842
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:5844	myocardial infarction		ISO	RGD:736622	D	RGD:9068941	20231130	RGD		DNA:SNP::1117C>A (human)	PMID:19040046|PMID:19327107|REF_RGD_ID:401901147|REF_RGD_ID:401901155
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:5844	myocardial infarction		ISO	RGD:736622	D	RGD:9068941	20231207	RGD		DNA:silent mutation:exon 8:1117C>A (human)	PMID:12040339|REF_RGD_ID:401901268
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:736622	D	RGD:9068941	20231130	RGD		DNA:SNP:CDS: (rs5629) (human)	PMID:19046748|REF_RGD_ID:2313891
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:3438	D	RGD:9068941	20240201	RGD			PMID:27802898|REF_RGD_ID:401960097
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:6432	pulmonary hypertension		ISO	RGD:736622	D	RGD:9068941	20240201	RGD		protein:decreased expression:pulmonary artery (human)	PMID:32673988|REF_RGD_ID:401960100
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:6432	pulmonary hypertension	susceptibility	ISO	RGD:3438	D	RGD:9068941	20200609	RGD		rat gene in a mouse model	PMID:10359560|REF_RGD_ID:727270
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:3438	D	RGD:9068941	20231130	RGD			PMID:15684702|REF_RGD_ID:1580695
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:736622	D	RGD:9068941	20240125	RGD		human gene in a rat model	PMID:12019369|REF_RGD_ID:401959405
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:8283	peritonitis	ameliorates	ISO	RGD:11183	D	RGD:9068941	20220204	RGD			PMID:26611322|REF_RGD_ID:11536046
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:9000965	Neoplasm Metastasis	exacerbates	ISO	RGD:736622	D	RGD:9068941	20220204	RGD		associated with colorectal cancer; protein:increased expression:colorectum (human)	PMID:22109564|REF_RGD_ID:151347833
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:9001048	Nociceptive Pain	ameliorates	ISO	RGD:11183	D	RGD:9068941	20220204	RGD			PMID:26611322|REF_RGD_ID:11536046
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:9001820	Pulmonary Arterial Hypertension	susceptibility	ISO	RGD:736622	D	RGD:9068941	20240125	RGD		DNA:repeat, SNPs:promoter, intron: , 185C>T, 325C>A ( , rs5582, rs116939356) (human)	PMID:24605778|REF_RGD_ID:401959406
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:9001820	Pulmonary Arterial Hypertension	treatment	ISO	RGD:3438	D	RGD:9068941	20231207	RGD			PMID:18612919|REF_RGD_ID:401901264
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:9001820	Pulmonary Arterial Hypertension	treatment	ISO	RGD:736622	D	RGD:9068941	20240201	RGD		human gene in a rat model	PMID:11034952|PMID:17635855|PMID:23841984|REF_RGD_ID:401901195|REF_RGD_ID:401959335|REF_RGD_ID:401959742
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:736622	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:736622	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11830527
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:3438	D	RGD:9068941	20240201	RGD			PMID:8888351|REF_RGD_ID:401960094
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:3438	D	RGD:9068941	20240201	RGD			PMID:11076704|REF_RGD_ID:401960076
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced	treatment	ISO	RGD:3438	D	RGD:9068941	20240125	RGD			PMID:12062720|REF_RGD_ID:401959327
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:9006182	Carotid Artery Injuries	treatment	ISO	RGD:3438	D	RGD:9068941	20240201	RGD			PMID:10073980|PMID:10536678|PMID:17303142|REF_RGD_ID:401959382|REF_RGD_ID:401959739|REF_RGD_ID:401960092
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:9006182	Carotid Artery Injuries	treatment	ISO	RGD:736622	D	RGD:9068941	20231207	RGD		human gene in a rat model	PMID:9933282|REF_RGD_ID:401901254
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:11183	D	RGD:9068941	20240201	RGD		mRNA:increased expression:kidney (mouse)	PMID:30413885|REF_RGD_ID:401959745
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:9006474	Arterial Occlusive Diseases	exacerbates	ISO	RGD:736622	D	RGD:9068941	20240125	RGD		associated with cerebral infarction;DNA:SNPs:exon, 3' utr: (rs5629, rs5602) (human)	PMID:28108096|REF_RGD_ID:401959400
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:9007491	Childhood Schizophrenia		ISO	RGD:736622	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Childhood Onset Schizophrenia	PMID:26508570
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:9007692	Insulin Resistance		ISO	RGD:3438	D	RGD:9068941	20240201	RGD		protein:decreased activity:aorta (rat)	PMID:16528409|REF_RGD_ID:401960098
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8838861	Ptgis	prostaglandin I2 synthase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736622	D	RGD:9068941	20231130	RGD		protein:decreased expression:hypodermis (human)	PMID:24225501|REF_RGD_ID:401901153
8838874	LOC102006165	cytochrome c-type heme lyase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8838874	LOC102006165	cytochrome c-type heme lyase	gene	DOID:0080600	COVID-19		ISO	RGD:1352684	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8838874	LOC102006165	cytochrome c-type heme lyase	gene	DOID:0080636	syndromic microphthalmia		ISO	RGD:1352684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic microphthalmia	PMID:31690835
8838874	LOC102006165	cytochrome c-type heme lyase	gene	DOID:0111808	linear skin defects with multiple congenital anomalies 1		ISO	RGD:1352684	D	RGD:7240710	20180130	OMIM			
8838874	LOC102006165	cytochrome c-type heme lyase	gene	DOID:0111808	linear skin defects with multiple congenital anomalies 1		ISO	RGD:1352684	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HCCS-related condition | ClinVar Annotator: match by term: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 | ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1	PMID:17033964|PMID:17893649|PMID:25054239|PMID:25741868|PMID:28492532
8838874	LOC102006165	cytochrome c-type heme lyase	gene	DOID:10629	microphthalmia		ISO	RGD:1352684	D	RGD:9068941	20200609	RGD		microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C	PMID:17033964|REF_RGD_ID:1600417
8838874	LOC102006165	cytochrome c-type heme lyase	gene	DOID:10629	microphthalmia		ISO	RGD:1558032	D	RGD:9068941	20220825	MouseDO		OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972	
8838874	LOC102006165	cytochrome c-type heme lyase	gene	DOID:4362	cervical cancer		ISO	RGD:1352684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8838874	LOC102006165	cytochrome c-type heme lyase	gene	DOID:5041	esophageal cancer		ISO	RGD:1352684	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8838874	LOC102006165	cytochrome c-type heme lyase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8838874	LOC102006165	cytochrome c-type heme lyase	gene	DOID:630	genetic disease		ISO	RGD:1352684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8838874	LOC102006165	cytochrome c-type heme lyase	gene	DOID:9001946	Skin Abnormalities		ISO	RGD:1352684	D	RGD:9068941	20200609	RGD		microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C	PMID:17033964|REF_RGD_ID:1600417
8838874	LOC102006165	cytochrome c-type heme lyase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838874	LOC102006165	cytochrome c-type heme lyase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8838893	Parm1	prostate androgen-regulated mucin-like protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8838893	Parm1	prostate androgen-regulated mucin-like protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1604031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8838893	Parm1	prostate androgen-regulated mucin-like protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8838893	Parm1	prostate androgen-regulated mucin-like protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604031	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8838893	Parm1	prostate androgen-regulated mucin-like protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838893	Parm1	prostate androgen-regulated mucin-like protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838902	Clec1a	C-type lectin domain family 1 member A	gene	DOID:13564	aspergillosis		ISO	RGD:1343742	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ASPERGILLOSIS, SUSCEPTIBILITY TO	PMID:25741868
8838902	Clec1a	C-type lectin domain family 1 member A	gene	DOID:13564	aspergillosis	susceptibility	ISO	RGD:1343742	D	RGD:7240710	20190502	OMIM			
8838920	Xaf1	XIAP associated factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8838920	Xaf1	XIAP associated factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8838920	Xaf1	XIAP associated factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1606793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8838920	Xaf1	XIAP associated factor 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606793	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28122345
8838920	Xaf1	XIAP associated factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8838920	Xaf1	XIAP associated factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8838920	Xaf1	XIAP associated factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606793	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8838920	Xaf1	XIAP associated factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838920	Xaf1	XIAP associated factor 1	gene	DOID:6000	congestive heart failure		ISO	RGD:1606793	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
8838920	Xaf1	XIAP associated factor 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1606793	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17087954
8838920	Xaf1	XIAP associated factor 1	gene	DOID:9001488	Human Influenza		ISO	RGD:1606793	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
8838920	Xaf1	XIAP associated factor 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1606793	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15843754|PMID:17087954
8838920	Xaf1	XIAP associated factor 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1606793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8838920	Xaf1	XIAP associated factor 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1606793	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
8838920	Xaf1	XIAP associated factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838920	Xaf1	XIAP associated factor 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1606793	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17570219
8838920	Xaf1	XIAP associated factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8838953	Prf1	perforin 1	gene	DOID:0050120	hemophagocytic lymphohistiocytosis		ISO	RGD:1350272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis	PMID:25741868
8838953	Prf1	perforin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8838953	Prf1	perforin 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1350272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myelodysplasia	PMID:25741868|PMID:28492532|PMID:29357941|PMID:33258288
8838953	Prf1	perforin 1	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1350272	D	RGD:7240710	20180130	OMIM			
8838953	Prf1	perforin 1	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1350272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma, Non-Hodgkin, Familial | ClinVar Annotator: match by term: Lymphoma, non-Hodgkin, familial	PMID:11179007|PMID:1156555|PMID:11841437|PMID:12060139|PMID:12716377|PMID:14739222|PMID:14757862|PMID:15632205|PMID:15728124|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16860143|PMID:17266056|PMID:17601962|PMID:17873118|PMID:18074390|PMID:19484379|PMID:19487666|PMID:21152410|PMID:21881043|PMID:22970278|PMID:23592409|PMID:24309606|PMID:25741868|PMID:26199792|PMID:26342526|PMID:28492532|PMID:29095814|PMID:29357941|PMID:32542393|PMID:33225392|PMID:33746956|PMID:34677667|PMID:35835228
8838953	Prf1	perforin 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1350272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24211274
8838953	Prf1	perforin 1	gene	DOID:0110922	familial hemophagocytic lymphohistiocytosis 2		ISO	RGD:1350272	D	RGD:7240710	20180130	OMIM			
8838953	Prf1	perforin 1	gene	DOID:0110922	familial hemophagocytic lymphohistiocytosis 2		ISO	RGD:1350272	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 | ClinVar Annotator: match by term: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 | ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 2	PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:11756153|PMID:11841437|PMID:12060139|PMID:12716377|PMID:14576041|PMID:14739222|PMID:14757862|PMID:15365097|PMID:15632205|PMID:15718147|PMID:15728124|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16443553|PMID:16860143|PMID:17164654|PMID:17266056|PMID:17328077|PMID:17356398|PMID:17477373|PMID:17525286|PMID:17576681|PMID:17601962|PMID:17606450|PMID:17627755|PMID:17674359|PMID:17873118|PMID:18074390|PMID:18190960|PMID:18496551|PMID:18710388|PMID:18799942|PMID:18927437|PMID:19484379|PMID:19487666|PMID:19639728|PMID:20015888|PMID:20055781|PMID:21152410|PMID:21234777|PMID:21600143|PMID:21674762|PMID:21881043|PMID:21931115|PMID:21959744|PMID:22186995|PMID:22249210|PMID:22437823|PMID:22970278|PMID:23160464|PMID:23180437|PMID:23443029|PMID:23592409|PMID:24215106|PMID:24309606|PMID:24390453|PMID:24578718|PMID:24916509|PMID:25047945|PMID:25104007|PMID:25110876|PMID:25215106|PMID:25233452|PMID:25326637|PMID:25577959|PMID:25741868|PMID:26184781|PMID:26199792|PMID:26221353|PMID:26342526|PMID:26450956|PMID:26684649|PMID:26739415|PMID:26903364|PMID:27033761|PMID:27209435|PMID:27271812|PMID:27290639|PMID:27622035|PMID:27896523|PMID:28353193|PMID:28492532|PMID:28750028|PMID:28936583|PMID:29095814|PMID:29113160|PMID:29152263|PMID:29239076|PMID:29357941|PMID:29665027|PMID:30104219|PMID:30539918|PMID:30697212|PMID:30899265|PMID:31055813|PMID:31219909|PMID:31388699|PMID:31664448|PMID:31789783|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32696691|PMID:32914282|PMID:32963807|PMID:33225392|PMID:33258288|PMID:33746956|PMID:33942430|PMID:34170459|PMID:34368327|PMID:34677667|PMID:34992599|PMID:35835228|PMID:35988656|PMID:36277457|PMID:37390248|PMID:9536098
8838953	Prf1	perforin 1	gene	DOID:10113	trypanosomiasis		ISO	RGD:1553597	D	RGD:9068941	20200609	RGD			PMID:19651871|REF_RGD_ID:6482814
8838953	Prf1	perforin 1	gene	DOID:12365	malaria		ISO	RGD:1553597	D	RGD:9068941	20200609	RGD			PMID:21525386|REF_RGD_ID:6482803
8838953	Prf1	perforin 1	gene	DOID:12449	aplastic anemia		ISO	RGD:1350272	D	RGD:7240710	20180130	OMIM			
8838953	Prf1	perforin 1	gene	DOID:12449	aplastic anemia		ISO	RGD:1350272	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Aplastic anemia | ClinVar Annotator: match by term: Inherited aplastic anemia	PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:11756153|PMID:11841437|PMID:12060139|PMID:12229880|PMID:12599189|PMID:12716377|PMID:12725560|PMID:14576041|PMID:14739222|PMID:14757862|PMID:15205266|PMID:15365097|PMID:15632205|PMID:15728124|PMID:15755897|PMID:15840696|PMID:15924140|PMID:16278825|PMID:16374518|PMID:16443553|PMID:16860143|PMID:17164654|PMID:17266056|PMID:17311987|PMID:17356398|PMID:17477373|PMID:17525286|PMID:17576681|PMID:17601962|PMID:17606450|PMID:17627755|PMID:17674359|PMID:17873118|PMID:18074390|PMID:18190960|PMID:18710388|PMID:18799942|PMID:18927437|PMID:19487666|PMID:19595804|PMID:19639728|PMID:20015888|PMID:20055781|PMID:20092789|PMID:20197201|PMID:21152410|PMID:21234777|PMID:21674762|PMID:21881043|PMID:21931115|PMID:21959744|PMID:22186995|PMID:22249210|PMID:22437823|PMID:22970278|PMID:23073044|PMID:23073290|PMID:23160464|PMID:23180437|PMID:23255033|PMID:23264592|PMID:23443029|PMID:23592409|PMID:24309606|PMID:24390453|PMID:24578718|PMID:24744671|PMID:24916509|PMID:25047945|PMID:25110876|PMID:25215106|PMID:25233452|PMID:25297583|PMID:25326637|PMID:25354579|PMID:25577959|PMID:25741868|PMID:26184781|PMID:26199792|PMID:26221353|PMID:26342526|PMID:26450956|PMID:26684649|PMID:26739415|PMID:26903364|PMID:27033761|PMID:27209435|PMID:27271812|PMID:27391055|PMID:27577878|PMID:27622035|PMID:27896523|PMID:28492532|PMID:28936583|PMID:29095814|PMID:29113160|PMID:29239076|PMID:29357941|PMID:29665027|PMID:29777376|PMID:30697212|PMID:30849948|PMID:30899265|PMID:31055813|PMID:31130284|PMID:31388699|PMID:31395954|PMID:31789783|PMID:32194620|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32696691|PMID:32914282|PMID:32986178|PMID:33225392|PMID:33365035|PMID:33570715|PMID:33658321|PMID:33746956|PMID:33822359|PMID:33942430|PMID:34083498|PMID:34170459|PMID:34677667|PMID:34992599|PMID:35835228|PMID:36706356|PMID:37390248|PMID:37467895|PMID:7851014|PMID:9536098
8838953	Prf1	perforin 1	gene	DOID:12449	aplastic anemia		ISO	RGD:1350272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: APLASTIC ANEMIA | ClinVar Annotator: match by term: Aplastic anemia	PMID:11179007|PMID:1156555|PMID:11565555|PMID:11756153|PMID:11841437|PMID:12060139|PMID:12716377|PMID:12725560|PMID:14739222|PMID:14757862|PMID:15632205|PMID:15728124|PMID:15755897|PMID:15840696|PMID:16278825|PMID:16374518|PMID:16860143|PMID:17266056|PMID:17311987|PMID:17356398|PMID:17576681|PMID:17601962|PMID:17873118|PMID:18074390|PMID:18927437|PMID:19484379|PMID:19487666|PMID:19639728|PMID:21152410|PMID:21600143|PMID:21674762|PMID:21881043|PMID:21959744|PMID:22970278|PMID:23073044|PMID:23592409|PMID:24309606|PMID:24390453|PMID:25110876|PMID:25233452|PMID:25326637|PMID:25577959|PMID:25741868|PMID:26199792|PMID:26342526|PMID:26450956|PMID:27209435|PMID:28492532|PMID:29095814|PMID:29113160|PMID:29152263|PMID:29357941|PMID:29665027|PMID:30104219|PMID:30539918|PMID:30697212|PMID:31388699|PMID:32542393|PMID:33225392|PMID:33746956|PMID:34677667|PMID:34992599|PMID:37390248|PMID:9536098
8838953	Prf1	perforin 1	gene	DOID:12554	hemolytic-uremic syndrome		ISO	RGD:1350272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic-uremic syndrome	PMID:25741868|PMID:28492532|PMID:29357941|PMID:33258288
8838953	Prf1	perforin 1	gene	DOID:12849	autistic disorder		ISO	RGD:1350272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18762240
8838953	Prf1	perforin 1	gene	DOID:13636	Fanconi anemia		ISO	RGD:1350272	D	RGD:9068941	20200609	RGD			PMID:21542827|REF_RGD_ID:6482802
8838953	Prf1	perforin 1	gene	DOID:1520	colon carcinoma		ISO	RGD:708463	D	RGD:9068941	20200609	RGD			PMID:22420317|REF_RGD_ID:6482822
8838953	Prf1	perforin 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1350272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:28492532|PMID:29357941|PMID:33258288
8838953	Prf1	perforin 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1350272	D	RGD:9068941	20200609	RGD		DNA:SNPs:introns:c.-5+321C>T, c.539+82C>T (rs3758562, rs10999426) (human)	PMID:20921521|REF_RGD_ID:6482820
8838953	Prf1	perforin 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1350272	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, T cell	PMID:22001684|REF_RGD_ID:6482817
8838953	Prf1	perforin 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1553597	D	RGD:9068941	20200609	RGD			PMID:19680139|REF_RGD_ID:6482805
8838953	Prf1	perforin 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1553597	D	RGD:9068941	20220825	MouseDO		OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810	
8838953	Prf1	perforin 1	gene	DOID:2841	asthma		ISO	RGD:1553597	D	RGD:9068941	20200609	RGD			PMID:22250087|REF_RGD_ID:6482815
8838953	Prf1	perforin 1	gene	DOID:2841	asthma		ISO	RGD:708463	D	RGD:9068941	20200609	RGD			PMID:21426642|REF_RGD_ID:6482818
8838953	Prf1	perforin 1	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:708463	D	RGD:9068941	20200609	RGD		mRNA:increased expression:glomerulus	PMID:10886554|REF_RGD_ID:1599935
8838953	Prf1	perforin 1	gene	DOID:2921	glomerulonephritis		ISO	RGD:708463	D	RGD:9068941	20200609	RGD			PMID:17622272|REF_RGD_ID:6482824
8838953	Prf1	perforin 1	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1350272	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:12060139|PMID:12229880|PMID:12599189|PMID:14739222|PMID:14757862|PMID:15077010|PMID:15342365|PMID:15365097|PMID:15459303|PMID:15659737|PMID:15728124|PMID:15755277|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16720836|PMID:16860143|PMID:17164654|PMID:17311987|PMID:17475905|PMID:17477373|PMID:17674359|PMID:17873118|PMID:18496551|PMID:18799942|PMID:18927437|PMID:19487666|PMID:20019066|PMID:20197201|PMID:21234777|PMID:21674762|PMID:21881043|PMID:22437823|PMID:22970278|PMID:23255033|PMID:23287865|PMID:23443029|PMID:23592409|PMID:24033266|PMID:24309606|PMID:24916509|PMID:25047945|PMID:25233452|PMID:25741868|PMID:25776844|PMID:25845254|PMID:25937001|PMID:26184781|PMID:26221353|PMID:26450956|PMID:26684649|PMID:27271812|PMID:27391055|PMID:27535533|PMID:28492532|PMID:29263817|PMID:29357941|PMID:31395954|PMID:31664448|PMID:32150605|PMID:32356861|PMID:32542393|PMID:32638196|PMID:33658321|PMID:33746956|PMID:34938098|PMID:7851014
8838953	Prf1	perforin 1	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1350272	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:12060139|PMID:12229880|PMID:12599189|PMID:12716377|PMID:14739222|PMID:14757862|PMID:15077010|PMID:15342365|PMID:15365097|PMID:15459303|PMID:15659737|PMID:15728124|PMID:15755277|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16720836|PMID:16860143|PMID:17164654|PMID:17311987|PMID:17475905|PMID:17477373|PMID:17525286|PMID:17606450|PMID:17674359|PMID:17873118|PMID:18496551|PMID:18799942|PMID:18927437|PMID:19487666|PMID:20019066|PMID:20092789|PMID:20197201|PMID:21234777|PMID:21674762|PMID:21881043|PMID:22249210|PMID:22437823|PMID:22970278|PMID:23255033|PMID:23287865|PMID:23443029|PMID:23592409|PMID:24033266|PMID:24309606|PMID:24916509|PMID:25047945|PMID:25233452|PMID:25741868|PMID:25776844|PMID:25845254|PMID:25937001|PMID:26184781|PMID:26221353|PMID:26342526|PMID:26450956|PMID:26684649|PMID:26739415|PMID:27271812|PMID:27391055|PMID:27535533|PMID:28492532|PMID:29263817|PMID:29357941|PMID:29665027|PMID:31388699|PMID:31395954|PMID:31664448|PMID:32150605|PMID:32356861|PMID:32542393|PMID:32638196|PMID:33225392|PMID:33658321|PMID:33746956|PMID:34938098|PMID:7851014
8838953	Prf1	perforin 1	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1350272	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:11841437|PMID:12060139|PMID:12229880|PMID:12599189|PMID:12716377|PMID:14739222|PMID:14757862|PMID:15077010|PMID:15342365|PMID:15365097|PMID:15459303|PMID:15659737|PMID:15728124|PMID:15755277|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16720836|PMID:16860143|PMID:17164654|PMID:17311987|PMID:17475905|PMID:17477373|PMID:17525286|PMID:17606450|PMID:17674359|PMID:17873118|PMID:18496551|PMID:18799942|PMID:18927437|PMID:19487666|PMID:20019066|PMID:20092789|PMID:20197201|PMID:21234777|PMID:21674762|PMID:21881043|PMID:22249210|PMID:22437823|PMID:22970278|PMID:23255033|PMID:23287865|PMID:23443029|PMID:23592409|PMID:24033266|PMID:24309606|PMID:24916509|PMID:25047945|PMID:25233452|PMID:25741868|PMID:25741905|PMID:25776844|PMID:25845254|PMID:25937001|PMID:26184781|PMID:26221353|PMID:26342526|PMID:26450956|PMID:26684649|PMID:26739415|PMID:27271812|PMID:27391055|PMID:27535533|PMID:28492532|PMID:29263817|PMID:29357941|PMID:29665027|PMID:31388699|PMID:31395954|PMID:31664448|PMID:32150605|PMID:32356861|PMID:32542393|PMID:32638196|PMID:33225392|PMID:33658321|PMID:33746956|PMID:34938098|PMID:7851014
8838953	Prf1	perforin 1	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1350272	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:11841437|PMID:12060139|PMID:12229880|PMID:12599189|PMID:12716377|PMID:14739222|PMID:14757862|PMID:15077010|PMID:15342365|PMID:15365097|PMID:15459303|PMID:15659737|PMID:15728124|PMID:15755277|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16720836|PMID:16860143|PMID:17164654|PMID:17311987|PMID:17475905|PMID:17477373|PMID:17525286|PMID:17606450|PMID:17674359|PMID:17873118|PMID:18496551|PMID:18799942|PMID:18927437|PMID:19487666|PMID:20019066|PMID:20092789|PMID:20197201|PMID:21234777|PMID:21674762|PMID:21881043|PMID:22249210|PMID:22437823|PMID:22970278|PMID:23255033|PMID:23287865|PMID:23443029|PMID:23592409|PMID:24033266|PMID:24309606|PMID:24916509|PMID:25047945|PMID:25233452|PMID:25741868|PMID:25776844|PMID:25845254|PMID:25937001|PMID:26184781|PMID:26221353|PMID:26342526|PMID:26450956|PMID:26684649|PMID:26739415|PMID:27271812|PMID:27391055|PMID:27535533|PMID:28492532|PMID:29263817|PMID:29357941|PMID:29665027|PMID:31388699|PMID:31395954|PMID:31664448|PMID:32150605|PMID:32356861|PMID:32542393|PMID:32638196|PMID:33225392|PMID:33658321|PMID:33746956|PMID:34938098|PMID:7851014
8838953	Prf1	perforin 1	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1350272	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:11841437|PMID:12060139|PMID:12229880|PMID:12599189|PMID:12716377|PMID:14739222|PMID:14757862|PMID:15077010|PMID:15342365|PMID:15365097|PMID:15459303|PMID:15659737|PMID:15728124|PMID:15755277|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16720836|PMID:16860143|PMID:17164654|PMID:17311987|PMID:17475905|PMID:17477373|PMID:17525286|PMID:17606450|PMID:17674359|PMID:17873118|PMID:18496551|PMID:18799942|PMID:18927437|PMID:19487666|PMID:20019066|PMID:20092789|PMID:20197201|PMID:21234777|PMID:21674762|PMID:21881043|PMID:22249210|PMID:22437823|PMID:22970278|PMID:23255033|PMID:23287865|PMID:23443029|PMID:23592409|PMID:24033266|PMID:24309606|PMID:24916509|PMID:25047945|PMID:25233452|PMID:25741868|PMID:25776844|PMID:25845254|PMID:25937001|PMID:26184781|PMID:26221353|PMID:26342526|PMID:26450956|PMID:26684649|PMID:26739415|PMID:27271812|PMID:27391055|PMID:27535533|PMID:28492532|PMID:29263817|PMID:29357941|PMID:29665027|PMID:31388699|PMID:31395954|PMID:31664448|PMID:32150605|PMID:32356861|PMID:32542393|PMID:32638196|PMID:33225392|PMID:33658321|PMID:33746956|PMID:34938098|PMID:37678575|PMID:7851014
8838953	Prf1	perforin 1	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1350272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:12060139|PMID:14739222|PMID:14757862|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16860143|PMID:19487666|PMID:21881043|PMID:22970278|PMID:24309606|PMID:25741868|PMID:26342526|PMID:28492532|PMID:32638196|PMID:33225392|PMID:33746956|PMID:35835228
8838953	Prf1	perforin 1	gene	DOID:3275	thymoma		ISO	RGD:1350272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
8838953	Prf1	perforin 1	gene	DOID:4330	non-Langerhans-cell histiocytosis		ISO	RGD:1350272	D	RGD:9068941	20200609	RGD		DNA:deletion, nonsense mutation, missense mutations: ; Lymphohistiocytosis, Hemophagocytic, OMIM:603553	PMID:11179007|REF_RGD_ID:1599929
8838953	Prf1	perforin 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1350272	D	RGD:9068941	20200609	RGD			PMID:20523897|REF_RGD_ID:6482808
8838953	Prf1	perforin 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1350272	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs885822 (human)	PMID:21157294|REF_RGD_ID:6482819
8838953	Prf1	perforin 1	gene	DOID:630	genetic disease		ISO	RGD:1350272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19484379|PMID:23160464|PMID:23592409|PMID:25741868|PMID:28492532
8838953	Prf1	perforin 1	gene	DOID:820	myocarditis		ISO	RGD:1553597	D	RGD:9068941	20200609	RGD			PMID:21993400|REF_RGD_ID:6482790
8838953	Prf1	perforin 1	gene	DOID:8544	chronic fatigue syndrome		ISO	RGD:1350272	D	RGD:9068941	20200609	RGD			PMID:21619669|REF_RGD_ID:6482801
8838953	Prf1	perforin 1	gene	DOID:8729	milker's nodule		ISO	RGD:1553597	D	RGD:9068941	20200609	RGD			PMID:22396645|REF_RGD_ID:6482788
8838953	Prf1	perforin 1	gene	DOID:8778	Crohn's disease		ISO	RGD:1350272	D	RGD:9068941	20200609	RGD		DNA:hypermethylation	PMID:22021194|REF_RGD_ID:6482789
8838953	Prf1	perforin 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:1350272	D	RGD:9068941	20200609	RGD			PMID:20537642|REF_RGD_ID:6482807
8838953	Prf1	perforin 1	gene	DOID:9001488	Human Influenza		ISO	RGD:1350272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26597256
8838953	Prf1	perforin 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1553597	D	RGD:9068941	20200609	RGD			PMID:20708278|REF_RGD_ID:6482806
8838953	Prf1	perforin 1	gene	DOID:9002798	Macrophage Activation Syndrome		ISO	RGD:1350272	D	RGD:9068941	20200609	RGD		associated with Arthritis, Juvenile Rheumatoid;DNA:missense mutation:cds:p.A91V (human)	PMID:20019066|REF_RGD_ID:6482811
8838953	Prf1	perforin 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1553597	D	RGD:9068941	20200609	RGD		associated with Colitis	PMID:19785028|REF_RGD_ID:6482812
8838953	Prf1	perforin 1	gene	DOID:9004017	Chronic Hepatitis C	disease_progression	ISO	RGD:1350272	D	RGD:9068941	20201112	RGD		protein:increased expression:peripheral blood mononuclear cell (human)	PMID:25148254|REF_RGD_ID:40813739
8838953	Prf1	perforin 1	gene	DOID:9004146	Flavivirus Infections		ISO	RGD:1553597	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain, spleen	PMID:21908734|REF_RGD_ID:6482795
8838953	Prf1	perforin 1	gene	DOID:9004404	Familial Hemophagocytic Lymphohistiocytoses		ISO	RGD:1350272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Hereditary hemophagocytic lymphohistiocytosis	PMID:1156555|PMID:11565555|PMID:11756153|PMID:12060139|PMID:12716377|PMID:14757862|PMID:15755897|PMID:15924140|PMID:16278825|PMID:16374518|PMID:16860143|PMID:17873118|PMID:19487666|PMID:19639728|PMID:21600143|PMID:21931115|PMID:23073042|PMID:23592409|PMID:24033266|PMID:24744671|PMID:25110876|PMID:25577959|PMID:25741868|PMID:26199792|PMID:26684649|PMID:28492532|PMID:28750028|PMID:28757574|PMID:29095814|PMID:29152263|PMID:29665027|PMID:30104219|PMID:31388699|PMID:32542393|PMID:32851268|PMID:33658321|PMID:33694335|PMID:33746956|PMID:33822359|PMID:34992599|PMID:36706356|PMID:37390248
8838953	Prf1	perforin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838953	Prf1	perforin 1	gene	DOID:9074	systemic lupus erythematosus	severity	ISO	RGD:1350272	D	RGD:9068941	20200609	RGD			PMID:21906646|REF_RGD_ID:6482798
8838953	Prf1	perforin 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1553597	D	RGD:9068941	20220825	MouseDO		OMIM:222100	
8838960	Filip1	filamin A interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1347231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8838960	Filip1	filamin A interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1347231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8838960	Filip1	filamin A interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838960	Filip1	filamin A interacting protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8838960	Filip1	filamin A interacting protein 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1347231	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
8838960	Filip1	filamin A interacting protein 1	gene	DOID:9005257	NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES		ISO	RGD:1347231	D	RGD:7240710	20240529	OMIM			
8838960	Filip1	filamin A interacting protein 1	gene	DOID:9005257	NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES		ISO	RGD:1347231	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES | ClinVar Annotator: match by term: Neuromuscular disorder, congenital, with dysmorphic facies	PMID:25741868
8838960	Filip1	filamin A interacting protein 1	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:1347231	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374069
8838960	Filip1	filamin A interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8838973	Fahd2a	fumarylacetoacetate hydrolase domain containing 2A	gene	DOID:10534	stomach cancer		ISO	RGD:1345912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8838973	Fahd2a	fumarylacetoacetate hydrolase domain containing 2A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1345912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8838973	Fahd2a	fumarylacetoacetate hydrolase domain containing 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:0080600	COVID-19		ISO	RGD:732465	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:732465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:25088547|PMID:25741868|PMID:26467025|PMID:28492532
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:0111444	progressive myoclonus epilepsy 4		ISO	RGD:732465	D	RGD:7240710	20180130	OMIM			
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:0111444	progressive myoclonus epilepsy 4		ISO	RGD:732465	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome | ClinVar Annotator: match by term: MYOCLONUS-NEPHROPATHY SYNDROME | ClinVar Annotator: match by term: SCARB2-related condition	PMID:16199547|PMID:17576681|PMID:18308289|PMID:18424452|PMID:19454373|PMID:19847901|PMID:19933215|PMID:21670406|PMID:21796727|PMID:22032306|PMID:22767442|PMID:23225201|PMID:23515316|PMID:23659519|PMID:24339182|PMID:24485911|PMID:24620919|PMID:25088547|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29261713|PMID:29358611|PMID:29655203|PMID:34791078|PMID:35478072|PMID:9536098
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:10534	stomach cancer		ISO	RGD:732465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:1059	intellectual disability		ISO	RGD:732465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:1074	kidney failure		ISO	RGD:732465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:1115	sarcoma		ISO	RGD:732465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:12849	autistic disorder		ISO	RGD:732465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:732465	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:25088547|PMID:25741868|PMID:26467025|PMID:28492532
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:1826	epilepsy		ISO	RGD:732465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:3329	benign epilepsy with centrotemporal spikes		ISO	RGD:732465	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Rolandic epilepsy	PMID:25741868|PMID:28492532|PMID:29358611
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:4362	cervical cancer		ISO	RGD:732465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:576	proteinuria		ISO	RGD:732465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: proteinuria	PMID:25741868
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:630	genetic disease		ISO	RGD:732465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25088547|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29261713|PMID:29358611|PMID:34791078
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:732465	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy	PMID:15364701|PMID:16199547|PMID:17576681|PMID:18308289|PMID:19597094|PMID:19847901|PMID:19933215|PMID:21670406|PMID:22767442|PMID:23515316|PMID:23659519|PMID:24339182|PMID:24485911|PMID:24620919|PMID:25088547|PMID:25741868|PMID:26467025|PMID:26836416|PMID:28222800|PMID:28492532|PMID:29261713|PMID:29358611|PMID:35478072|PMID:9536098
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:732465	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Familial progressive myoclonic epilepsy | ClinVar Annotator: match by term: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonus epilepsy	PMID:15364701|PMID:16199547|PMID:17576681|PMID:18308289|PMID:19597094|PMID:19847901|PMID:19933215|PMID:21670406|PMID:22032306|PMID:22767442|PMID:23515316|PMID:23659519|PMID:24339182|PMID:24485911|PMID:24620919|PMID:25088547|PMID:25741868|PMID:26467025|PMID:26836416|PMID:28222800|PMID:28492532|PMID:29261713|PMID:29358611|PMID:35478072|PMID:9536098
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:732465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonus epilepsy	PMID:15364701|PMID:16199547|PMID:17576681|PMID:18308289|PMID:19597094|PMID:19847901|PMID:19933215|PMID:21670406|PMID:23515316|PMID:23659519|PMID:25088547|PMID:25741868|PMID:26467025|PMID:28222800|PMID:28492532|PMID:29261713|PMID:29358611|PMID:29655203|PMID:34791078|PMID:35478072|PMID:38898598|PMID:9536098
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:732465	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonus epilepsy	PMID:16199547|PMID:17576681|PMID:18308289|PMID:19847901|PMID:19933215|PMID:21670406|PMID:23515316|PMID:23659519|PMID:25088547|PMID:25741868|PMID:26467025|PMID:28222800|PMID:28492532|PMID:29261713|PMID:29358611|PMID:29655203|PMID:34791078|PMID:35478072|PMID:38898598|PMID:9536098
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:732465	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myoclonus epilepsy	PMID:17576681|PMID:18308289|PMID:19847901|PMID:19933215|PMID:21670406|PMID:23515316|PMID:23659519|PMID:25088547|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29261713|PMID:29358611|PMID:34791078|PMID:35478072|PMID:9536098
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8838993	Scarb2	scavenger receptor class B member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8839010	Cdh4	cadherin 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8839010	Cdh4	cadherin 4	gene	DOID:1115	sarcoma		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8839010	Cdh4	cadherin 4	gene	DOID:1324	lung cancer		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8839010	Cdh4	cadherin 4	gene	DOID:1826	epilepsy		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
8839010	Cdh4	cadherin 4	gene	DOID:1909	melanoma		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8839010	Cdh4	cadherin 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8839010	Cdh4	cadherin 4	gene	DOID:3275	thymoma		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8839010	Cdh4	cadherin 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8839010	Cdh4	cadherin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8839010	Cdh4	cadherin 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8839010	Cdh4	cadherin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1343938	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8839010	Cdh4	cadherin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839010	Cdh4	cadherin 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8839010	Cdh4	cadherin 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8839010	Cdh4	cadherin 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343938	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental Disorder	
8839010	Cdh4	cadherin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839010	Cdh4	cadherin 4	gene	DOID:9007097	Microcephaly with Simplified Gyral Pattern		ISO	RGD:1343938	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Simplified gyral pattern	PMID:29706646
8839010	Cdh4	cadherin 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
8839010	Cdh4	cadherin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8839010	Cdh4	cadherin 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8839026	Msrb1	methionine sulfoxide reductase B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8839026	Msrb1	methionine sulfoxide reductase B1	gene	DOID:1324	lung cancer		ISO	RGD:1312916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8839026	Msrb1	methionine sulfoxide reductase B1	gene	DOID:1909	melanoma		ISO	RGD:1312916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8839026	Msrb1	methionine sulfoxide reductase B1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8839034	Amn	amnion associated transmembrane protein	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
8839034	Amn	amnion associated transmembrane protein	gene	DOID:0050731	vitamin B12 deficiency		ISO	RGD:1318522	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cobalamin deficiency	PMID:25741868
8839034	Amn	amnion associated transmembrane protein	gene	DOID:13250	diarrhea		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	
8839034	Amn	amnion associated transmembrane protein	gene	DOID:13382	megaloblastic anemia		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megaloblastic anemia due to inborn errors of metabolism	PMID:12590260|PMID:15024727|PMID:16199547|PMID:17576681|PMID:21750092|PMID:22078000|PMID:22631584|PMID:22929189|PMID:24044590|PMID:25741868|PMID:28492532|PMID:30691194|PMID:32045704|PMID:9536098
8839034	Amn	amnion associated transmembrane protein	gene	DOID:13382	megaloblastic anemia	susceptibility	ISO	RGD:1318522	D	RGD:9068941	20200609	RGD			PMID:12590260|REF_RGD_ID:1599101
8839034	Amn	amnion associated transmembrane protein	gene	DOID:2355	anemia		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	
8839034	Amn	amnion associated transmembrane protein	gene	DOID:3021	acute kidney failure		ISO	RGD:1318522	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20514524
8839034	Amn	amnion associated transmembrane protein	gene	DOID:3275	thymoma		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8839034	Amn	amnion associated transmembrane protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1318522	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8839034	Amn	amnion associated transmembrane protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839034	Amn	amnion associated transmembrane protein	gene	DOID:630	genetic disease		ISO	RGD:1318522	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8839034	Amn	amnion associated transmembrane protein	gene	DOID:9000197	Edema		ISO	RGD:1318522	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17698245
8839034	Amn	amnion associated transmembrane protein	gene	DOID:9001579	Neurogenic Inflammation		ISO	RGD:1318522	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16938409|PMID:17698245
8839034	Amn	amnion associated transmembrane protein	gene	DOID:9006481	Imerslund-Grasbeck Syndrome 1		ISO	RGD:1318522	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type | ClinVar Annotator: match by term: PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA	PMID:12590260|PMID:13852753|PMID:15024727|PMID:16199547|PMID:17285242|PMID:17576681|PMID:21750092|PMID:22078000|PMID:22929189|PMID:24044590|PMID:24156255|PMID:25741868|PMID:26040326|PMID:28492532|PMID:30523278|PMID:32045704|PMID:6741523|PMID:9536098
8839034	Amn	amnion associated transmembrane protein	gene	DOID:9006481	Imerslund-Grasbeck Syndrome 1		ISO	RGD:1318522	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA	PMID:12590260|PMID:13852753|PMID:16199547|PMID:17576681|PMID:21750092|PMID:22929189|PMID:25741868|PMID:26040326|PMID:28492532|PMID:30523278|PMID:6741523|PMID:9536098
8839034	Amn	amnion associated transmembrane protein	gene	DOID:9006481	Imerslund-Grasbeck Syndrome 1		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA	PMID:12590260|PMID:16199547|PMID:17576681|PMID:22929189|PMID:25741868|PMID:28492532|PMID:9536098
8839034	Amn	amnion associated transmembrane protein	gene	DOID:9006825	Imerslund-Grasbeck Syndrome		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome	PMID:12590260|PMID:16199547|PMID:17576681|PMID:22929189|PMID:25741868|PMID:28492532|PMID:30523278|PMID:33491342|PMID:33693455|PMID:9536098
8839034	Amn	amnion associated transmembrane protein	gene	DOID:9007240	Imerslund-Grasbeck Syndrome 2		ISO	RGD:1318522	D	RGD:7240710	20200610	OMIM			
8839034	Amn	amnion associated transmembrane protein	gene	DOID:9007240	Imerslund-Grasbeck Syndrome 2		ISO	RGD:1318522	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMERSLUND-GRASBECK SYNDROME 2 | ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE	PMID:12590260|PMID:22929189|PMID:25741868|PMID:26040326|PMID:28492532|PMID:30523278|PMID:33693455
8839034	Amn	amnion associated transmembrane protein	gene	DOID:9008385	Vomiting		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	
8839034	Amn	amnion associated transmembrane protein	gene	DOID:9008511	Extravasation of Diagnostic and Therapeutic Materials		ISO	RGD:1318522	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17698245
8839034	Amn	amnion associated transmembrane protein	gene	DOID:9637	stomatitis		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stomatitis	
8839041	Hsd17b11	hydroxysteroid 17-beta dehydrogenase 11	gene	DOID:10534	stomach cancer		ISO	RGD:1352920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8839041	Hsd17b11	hydroxysteroid 17-beta dehydrogenase 11	gene	DOID:1909	melanoma		ISO	RGD:1352920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8839041	Hsd17b11	hydroxysteroid 17-beta dehydrogenase 11	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8839041	Hsd17b11	hydroxysteroid 17-beta dehydrogenase 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8839041	Hsd17b11	hydroxysteroid 17-beta dehydrogenase 11	gene	DOID:9256	colorectal cancer		ISO	RGD:1352920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8839057	Rcc1	regulator of chromosome condensation 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8839057	Rcc1	regulator of chromosome condensation 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8839057	Rcc1	regulator of chromosome condensation 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8839057	Rcc1	regulator of chromosome condensation 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839057	Rcc1	regulator of chromosome condensation 1	gene	DOID:7319	axonal neuropathy		ISO	RGD:1343250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Motor axonal neuropathy	
8839057	Rcc1	regulator of chromosome condensation 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1343250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8839057	Rcc1	regulator of chromosome condensation 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839057	Rcc1	regulator of chromosome condensation 1	gene	DOID:936	brain disease		ISO	RGD:1343250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
8839081	Znf276	zinc finger protein 276	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8839081	Znf276	zinc finger protein 276	gene	DOID:10534	stomach cancer		ISO	RGD:1316682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8839081	Znf276	zinc finger protein 276	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8839081	Znf276	zinc finger protein 276	gene	DOID:13636	Fanconi anemia		ISO	RGD:1316682	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:15059067|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28623394|PMID:28717661|PMID:28767289|PMID:29098742|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30792206|PMID:30919572|PMID:31586946|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:34512202|PMID:9371798|PMID:9536098|PMID:9721219
8839081	Znf276	zinc finger protein 276	gene	DOID:13636	Fanconi anemia		ISO	RGD:1316682	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:12697994|PMID:15059067|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17327415|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25640679|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28623394|PMID:28717661|PMID:28767289|PMID:29098742|PMID:29779353|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30792206|PMID:30919572|PMID:31248416|PMID:31586946|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:34512202|PMID:9371798|PMID:9536098|PMID:9721219
8839081	Znf276	zinc finger protein 276	gene	DOID:13636	Fanconi anemia		ISO	RGD:1316682	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:12697994|PMID:15059067|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17327415|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25640679|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:27854218|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28623394|PMID:28717661|PMID:28767289|PMID:29098742|PMID:29779353|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30792206|PMID:30919572|PMID:31248416|PMID:31586946|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:34512202|PMID:9371798|PMID:9536098|PMID:9721219
8839081	Znf276	zinc finger protein 276	gene	DOID:13636	Fanconi anemia		ISO	RGD:1316682	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:12697994|PMID:15059067|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17327415|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25640679|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28623394|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29098742|PMID:29779353|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30792206|PMID:30809872|PMID:30919572|PMID:31248416|PMID:31586946|PMID:31613886|PMID:31698007|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:33960719|PMID:34308366|PMID:34512202|PMID:34585473|PMID:37349538|PMID:9371798|PMID:9536098|PMID:9721219
8839081	Znf276	zinc finger protein 276	gene	DOID:13636	Fanconi anemia		ISO	RGD:1316682	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:12697994|PMID:15059067|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17327415|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25640679|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28623394|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29098742|PMID:29779353|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30792206|PMID:30809872|PMID:30919572|PMID:31248416|PMID:31586946|PMID:31613886|PMID:31698007|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:33960719|PMID:34308366|PMID:34512202|PMID:34585473|PMID:36894310|PMID:37349538|PMID:9371798|PMID:9536098|PMID:9721219
8839081	Znf276	zinc finger protein 276	gene	DOID:1909	melanoma		ISO	RGD:1316682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8839081	Znf276	zinc finger protein 276	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8839081	Znf276	zinc finger protein 276	gene	DOID:3275	thymoma		ISO	RGD:1316682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8839081	Znf276	zinc finger protein 276	gene	DOID:4362	cervical cancer		ISO	RGD:1316682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8839081	Znf276	zinc finger protein 276	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8839081	Znf276	zinc finger protein 276	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839081	Znf276	zinc finger protein 276	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8839081	Znf276	zinc finger protein 276	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0050908	myelodysplastic syndrome	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :66A>G(human)	PMID:18774170|REF_RGD_ID:11075096
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0060060	non-Hodgkin lymphoma	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :66A>G(human)	PMID:15159311|REF_RGD_ID:11531140
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0060668	anencephaly	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:point mutation:intron:c.-26+755C>A (rs326119) (human)	PMID:26045171|REF_RGD_ID:11098877
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0080016	spina bifida		ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :66A>G(human)	PMID:12375236|REF_RGD_ID:1302512
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0080016	spina bifida	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :66A>G(human)	PMID:12590188|REF_RGD_ID:5508199
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0081337	congenital myopathy		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0112255	homocystinuria-megaloblastic anemia cblE type		ISO	RGD:1318580	D	RGD:7240710	20260722	OMIM			
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0112255	homocystinuria-megaloblastic anemia cblE type		ISO	RGD:1318580	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CblE complementation type homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism | ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE | ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE TYPE | ClinVar Annotator: match by term: Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE	PMID:10484769|PMID:12555939|PMID:12971424|PMID:15714522|PMID:16199547|PMID:17576681|PMID:20120036|PMID:22887477|PMID:24033266|PMID:25227144|PMID:25526710|PMID:25741868|PMID:25978498|PMID:28492532|PMID:28518168|PMID:30041674|PMID:30466947|PMID:31063268|PMID:32461654|PMID:33980297|PMID:38736634|PMID:9536098
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:1115	sarcoma		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:114	heart disease		ISO	RGD:1318580	D	RGD:9068941	20200609	RGD			PMID:15612980|REF_RGD_ID:1581051
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:12336	male infertility		ISO	RGD:1318580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16861746
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:14330	Parkinson's disease	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :1049A>G (human)	PMID:21070756|REF_RGD_ID:5508183
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:1681	heart septal defect		ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs326119(human)	PMID:22179537|REF_RGD_ID:7244247
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :66A>G (human)	PMID:18843018|REF_RGD_ID:2317118
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:SNPs:intron, exon:rs162049, p.H595Y (rs10380) (human)	PMID:18515090|REF_RGD_ID:2325772
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:1909	melanoma		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:3565	meningioma	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:SNP: :66A>G, (rs1801394) (human)	PMID:18483342|REF_RGD_ID:5508186
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:4362	cervical cancer		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:5041	esophageal cancer		ISO	RGD:1318580	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:630	genetic disease		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism	PMID:10484769|PMID:12555939|PMID:15292234|PMID:15494741|PMID:15714522|PMID:20120036|PMID:25227144|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654|PMID:33980297
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:657	adenoma		ISO	RGD:1318580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17389618
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:SNP: :66A>G(human)	PMID:19035314|REF_RGD_ID:14696707
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:7693	abdominal aortic aneurysm	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20230831	RGD		DNA:SNP: (rs326118) (human)	PMID:18635682|REF_RGD_ID:329853746
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:8577	ulcerative colitis	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :66A>G (human)	PMID:21947961|REF_RGD_ID:5508217
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:863	nervous system disease		ISO	RGD:1318580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21064136
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9001989	Folate-Sensitive Neural Tube Defects		ISO	RGD:1318580	D	RGD:7240710	20260722	OMIM			
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9001989	Folate-Sensitive Neural Tube Defects		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neural tube defects, folate-sensitive	PMID:10484769|PMID:12555939|PMID:15714522|PMID:20120036|PMID:25526710|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654|PMID:33042249|PMID:33980297
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		Associated with Diabetes Mellitus, Type 1;DNA:SNP:cds:66A>G, (rs1801394) (human)	PMID:18774994|REF_RGD_ID:6893652
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9006281	Temporomandibular Joint Disorders	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.I22M (rs1801394)(human)	PMID:21615938|REF_RGD_ID:5490535
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1318580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21064136
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1318580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16985020|PMID:17389618
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :66A>G(human)	PMID:18774170|REF_RGD_ID:11075096
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318580	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor	PMID:25227144|PMID:25741868|PMID:28492532
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9263	homocystinuria		ISO	RGD:1318580	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:12555939|PMID:15714522
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9263	homocystinuria		ISO	RGD:1318580	D	RGD:9068941	20260521	RGD		DNA:polymorphisms,mutations: :	PMID:15714522|REF_RGD_ID:5508189
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:1318580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16575899|PMID:17369066
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9538	multiple myeloma	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :66G>A(human)	PMID:17655928|REF_RGD_ID:11075095
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1318580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17136115
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9952	acute lymphoblastic leukemia	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs3776455(human)	PMID:23940529|REF_RGD_ID:11531135
8839096	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9952	acute lymphoblastic leukemia	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:haplotype:cds:	PMID:17136115|REF_RGD_ID:11531133
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:0070111	Niemann-Pick disease type A		ISO	RGD:1349414	D	RGD:7240710	20180130	OMIM			
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:0070111	Niemann-Pick disease type A		ISO	RGD:1349414	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NIEMANN-PICK DISEASE, TYPE A | ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: SMPD1-related condition | ClinVar Annotator: match by term: SPHINGOMYELIN LIPIDOSIS | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis	PMID:10464620|PMID:10694919|PMID:12369017|PMID:12556236|PMID:12607113|PMID:12694237|PMID:12712061|PMID:1391960|PMID:14681755|PMID:15221801|PMID:15234149|PMID:15241805|PMID:15545621|PMID:15557261|PMID:15612058|PMID:15653433|PMID:15877209|PMID:16010684|PMID:16151905|PMID:1618760|PMID:16199547|PMID:16264060|PMID:16434659|PMID:16472269|PMID:16642440|PMID:17011332|PMID:1718266|PMID:17360762|PMID:17576681|PMID:17876723|PMID:18052040|PMID:18625664|PMID:18815062|PMID:1885770|PMID:19050888|PMID:19405096|PMID:19411774|PMID:20111001|PMID:2023926|PMID:20386867|PMID:21098024|PMID:21454466|PMID:21621718|PMID:22367733|PMID:22613662|PMID:22796693|PMID:22818240|PMID:23188845|PMID:23252888|PMID:23356216|PMID:23412609|PMID:23415435|PMID:23418865|PMID:23420949|PMID:23430512|PMID:23430884|PMID:23430949|PMID:23618813|PMID:23724191|PMID:23871123|PMID:24033266|PMID:24643943|PMID:24718843|PMID:24767253|PMID:25144372|PMID:25301364|PMID:25741868|PMID:25811928|PMID:25834946|PMID:25920558|PMID:25933391|PMID:26046366|PMID:26049896|PMID:26084044|PMID:26169295|PMID:26169695|PMID:26377108|PMID:2649910|PMID:26499107|PMID:26550340|PMID:26790753|PMID:26851525|PMID:26913189|PMID:26981555|PMID:26990548|PMID:27238910|PMID:27243974|PMID:27338287|PMID:27349982|PMID:27435900|PMID:27659707|PMID:27725636|PMID:27865842|PMID:27884455|PMID:28259515|PMID:28475290|PMID:28492532|PMID:28590786|PMID:28600779|PMID:28703315|PMID:28801223|PMID:29140481|PMID:29485843|PMID:29556840|PMID:29966168|PMID:29995201|PMID:30153451|PMID:30788890|PMID:30795770|PMID:30912297|PMID:31037088|PMID:31122880|PMID:31139477|PMID:31160058|PMID:31576605|PMID:31941852|PMID:31965297|PMID:31980526|PMID:32005694|PMID:32036093|PMID:32071839|PMID:32280632|PMID:32292456|PMID:32375665|PMID:32714837|PMID:32778503|PMID:32860008|PMID:32870915|PMID:33083013|PMID:33100332|PMID:33333704|PMID:33675270|PMID:33763395|PMID:33971920|PMID:34273913|PMID:34554397|PMID:34660203|PMID:34768550|PMID:34867278|PMID:35342016|PMID:35534800|PMID:35614200|PMID:35747619|PMID:35883096|PMID:36046391|PMID:36195244|PMID:36333862|PMID:36687457|PMID:36779112|PMID:36873248|PMID:36907956|PMID:36964991|PMID:37347058|PMID:37597066|PMID:38610036|PMID:38730490|PMID:38739391|PMID:38782304|PMID:38826802|PMID:38866761|PMID:38992987|PMID:39177062|PMID:39507854|PMID:40106870|PMID:40218154|PMID:7762557|PMID:8053910|PMID:8225311|PMID:8401540|PMID:8407868|PMID:8664904|PMID:8680412|PMID:8693491|PMID:9042807|PMID:9266408|PMID:9536098
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:0070112	Niemann-Pick disease type B		ISO	RGD:1349414	D	RGD:7240710	20180130	OMIM			
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:0070112	Niemann-Pick disease type B		ISO	RGD:1349414	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NIEMANN-PICK DISEASE, TYPE B | ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis	PMID:10694919|PMID:12369017|PMID:12556236|PMID:12607113|PMID:12712061|PMID:1391960|PMID:14681755|PMID:15221801|PMID:15234149|PMID:15241805|PMID:15545621|PMID:15557261|PMID:15653433|PMID:15877209|PMID:16010684|PMID:16151905|PMID:1618760|PMID:16199547|PMID:16264060|PMID:16434659|PMID:16472269|PMID:16642440|PMID:17011332|PMID:1718266|PMID:17360762|PMID:17576681|PMID:17876723|PMID:18052040|PMID:18625664|PMID:18815062|PMID:1885770|PMID:19050888|PMID:19405096|PMID:19411774|PMID:20111001|PMID:2023926|PMID:20386867|PMID:21098024|PMID:21454466|PMID:21621718|PMID:22796693|PMID:22818240|PMID:23188845|PMID:23252888|PMID:23356216|PMID:23415435|PMID:23418865|PMID:23430512|PMID:23430884|PMID:23618813|PMID:23871123|PMID:24033266|PMID:24718843|PMID:24767253|PMID:25144372|PMID:25741868|PMID:25811928|PMID:25834946|PMID:25920558|PMID:25933391|PMID:26046366|PMID:26049896|PMID:26084044|PMID:26169295|PMID:2649910|PMID:26499107|PMID:26790753|PMID:26851525|PMID:26913189|PMID:26981555|PMID:26990548|PMID:27238910|PMID:27243974|PMID:27338287|PMID:27349982|PMID:27435900|PMID:27659707|PMID:27725636|PMID:27884455|PMID:28259515|PMID:28492532|PMID:28590786|PMID:28600779|PMID:28703315|PMID:28801223|PMID:29140481|PMID:29485843|PMID:29556840|PMID:29966168|PMID:29995201|PMID:30153451|PMID:30788890|PMID:30795770|PMID:31122880|PMID:31139477|PMID:31160058|PMID:31576605|PMID:31941852|PMID:31965297|PMID:31980526|PMID:32005694|PMID:32071839|PMID:32292456|PMID:32375665|PMID:32714837|PMID:32778503|PMID:32860008|PMID:32870915|PMID:33083013|PMID:33100332|PMID:33333704|PMID:33675270|PMID:33763395|PMID:33971920|PMID:34273913|PMID:34554397|PMID:34768550|PMID:34867278|PMID:35534800|PMID:35747619|PMID:35883096|PMID:36333862|PMID:36687457|PMID:36779112|PMID:36873248|PMID:36964991|PMID:37347058|PMID:37597066|PMID:38610036|PMID:38730490|PMID:38739391|PMID:38782304|PMID:38826802|PMID:38866761|PMID:38992987|PMID:39177062|PMID:39507854|PMID:40106870|PMID:40218154|PMID:7762557|PMID:8053910|PMID:8407868|PMID:8664904|PMID:8680412|PMID:8693491|PMID:9042807|PMID:9536098
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:0070113	Niemann-Pick disease type C1		ISO	RGD:1349414	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurovisceral storage disease with vertical supranuclear ophthalmoplegia | ClinVar Annotator: match by term: Niemann-Pick disease, type C1	PMID:12369017|PMID:15221801|PMID:22796693|PMID:23188845|PMID:25741868|PMID:26499107|PMID:27243974|PMID:27338287|PMID:28492532|PMID:31139477|PMID:37597066
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:0110729	neuronal ceroid lipofuscinosis 6A		ISO	RGD:1349414	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A	PMID:12369017|PMID:15221801|PMID:15234149|PMID:15241805|PMID:19405096|PMID:23252888|PMID:23430884|PMID:24767253|PMID:25741868|PMID:26499107|PMID:28492532
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1349414	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:15877209|PMID:23356216|PMID:25741868|PMID:28492532
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:10762	portal hypertension		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Portal hypertension	PMID:1618760|PMID:25741868|PMID:25834946|PMID:26049896|PMID:2649910|PMID:27338287|PMID:28492532|PMID:34273913|PMID:8693491
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:14504	Niemann-Pick disease		ISO	RGD:1349414	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acid sphingomyelinase deficiency | ClinVar Annotator: match by term: Niemann-Pick disease | ClinVar Annotator: match by term: SPHINGOMYELIN LIPIDOSIS | ClinVar Annotator: match by term: SPHINGOMYELINASE DEFICIENCY | ClinVar Annotator: match by term: Sphingomyelinase deficiency | ClinVar Annotator: match by term: acid sphingomyelinase deficiency	PMID:10694919|PMID:12369017|PMID:12556236|PMID:12607113|PMID:12712061|PMID:1391960|PMID:14681755|PMID:15221801|PMID:15234149|PMID:15241805|PMID:15545621|PMID:15557261|PMID:15653433|PMID:15877209|PMID:16010684|PMID:16151905|PMID:1618760|PMID:16199547|PMID:16434659|PMID:16472269|PMID:16642440|PMID:17011332|PMID:1718266|PMID:17576681|PMID:17876723|PMID:18052040|PMID:18815062|PMID:1885770|PMID:19050888|PMID:19405096|PMID:19411774|PMID:20111001|PMID:2023926|PMID:20386867|PMID:21098024|PMID:21454466|PMID:22796693|PMID:22818240|PMID:23188845|PMID:23252888|PMID:23356216|PMID:23415435|PMID:23418865|PMID:23430884|PMID:23618813|PMID:23871123|PMID:24033266|PMID:24767253|PMID:25144372|PMID:25741868|PMID:25811928|PMID:25834946|PMID:25933391|PMID:26046366|PMID:26049896|PMID:26169295|PMID:2649910|PMID:26499107|PMID:26851525|PMID:26913189|PMID:26981555|PMID:26990548|PMID:27238910|PMID:27338287|PMID:27349982|PMID:27659707|PMID:27725636|PMID:28259515|PMID:28492532|PMID:28590786|PMID:28600779|PMID:28703315|PMID:28801223|PMID:29140481|PMID:29556840|PMID:29995201|PMID:30788890|PMID:30795770|PMID:31122880|PMID:31139477|PMID:31576605|PMID:31941852|PMID:31965297|PMID:31980526|PMID:32071839|PMID:32292456|PMID:32375665|PMID:32714837|PMID:32870915|PMID:33083013|PMID:33100332|PMID:33333704|PMID:33675270|PMID:33763395|PMID:33971920|PMID:34273913|PMID:34554397|PMID:34867278|PMID:35747619|PMID:36333862|PMID:36779112|PMID:36873248|PMID:37597066|PMID:38730490|PMID:38739391|PMID:38782304|PMID:38992987|PMID:39177062|PMID:39507854|PMID:40106870|PMID:8053910|PMID:8407868|PMID:8664904|PMID:8680412|PMID:8693491|PMID:9536098
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:14504	Niemann-Pick disease	susceptibility	ISO	RGD:1349414	D	RGD:9068941	20200609	RGD		Niemann-Pick Disease, Type A, OMIM:257200, Type B, OMIM:607616;DNA:deletions, missense mutations: :multiple	PMID:12556236|REF_RGD_ID:1601336
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:15221801|PMID:15241805|PMID:16010684|PMID:22818240|PMID:25741868|PMID:27338287|PMID:27725636|PMID:28492532|PMID:31941852|PMID:33083013|PMID:33971920|PMID:34273913
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:1852	intrahepatic cholestasis		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intrahepatic cholestasis	PMID:10694919|PMID:12369017|PMID:15221801|PMID:15241805|PMID:20386867|PMID:23618813|PMID:25741868|PMID:25811928|PMID:26499107|PMID:26913189|PMID:28492532
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:1909	melanoma		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:2355	anemia		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:12369017|PMID:12607113|PMID:15221801|PMID:15241805|PMID:16010684|PMID:17011332|PMID:19405096|PMID:22796693|PMID:22818240|PMID:23415435|PMID:25741868|PMID:26499107|PMID:27338287|PMID:27725636|PMID:28492532|PMID:28801223|PMID:31576605|PMID:31941852|PMID:33083013|PMID:33675270|PMID:33971920|PMID:34273913|PMID:8680412
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:3211	lysosomal storage disease		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lysosomal storage disease	PMID:15877209|PMID:17011332|PMID:19405096|PMID:23252888|PMID:25741868|PMID:27725636|PMID:28492532|PMID:32870915|PMID:38992987|PMID:39507854
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:4702	mongolian spot		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	PMID:12369017|PMID:16434659|PMID:17876723|PMID:18815062|PMID:25741868|PMID:26981555|PMID:27338287|PMID:28492532|PMID:28600779|PMID:36333862
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:552	pneumonia		ISO	RGD:1349414	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:22796693|PMID:23188845|PMID:25741868|PMID:27338287|PMID:28492532|PMID:31139477|PMID:37597066
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:557	kidney disease		ISO	RGD:1349414	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:26980705
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:630	genetic disease		ISO	RGD:1349414	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12369017|PMID:15877209|PMID:17011332|PMID:20111001|PMID:23252888|PMID:25741868|PMID:25933391|PMID:26499107|PMID:26981555|PMID:28259515|PMID:28492532|PMID:28590786|PMID:28703315|PMID:29556840|PMID:30788890|PMID:30795770|PMID:34273913|PMID:38782304|PMID:38992987|PMID:39177062
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:893	Wilson disease	severity	ISO	RGD:1549719	D	RGD:9068941	20200609	RGD			PMID:17259995|REF_RGD_ID:1601345
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9000781	Cyanosis		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cyanosis	PMID:25741868|PMID:27338287|PMID:28492532|PMID:34273913|PMID:39507854
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1349414	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:12369017|PMID:15221801|PMID:15241805|PMID:16010684|PMID:19405096|PMID:22818240|PMID:25741868|PMID:27338287|PMID:27725636|PMID:28492532|PMID:28801223|PMID:31576605|PMID:31941852|PMID:33083013|PMID:33675270|PMID:33971920|PMID:34273913
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9001740	Blue Nevus		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blue nevus	PMID:15221801|PMID:19411774|PMID:25741868|PMID:28492532|PMID:33675270|PMID:8664904
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9002720	Splenomegaly		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:12369017|PMID:16434659|PMID:17876723|PMID:18815062|PMID:25741868|PMID:26981555|PMID:27338287|PMID:28492532|PMID:28600779|PMID:34273913|PMID:36333862|PMID:39507854
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1349414	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:12369017|PMID:15545621|PMID:17011332|PMID:19050888|PMID:23871123|PMID:24033266|PMID:25741868|PMID:27238910|PMID:28492532|PMID:31980526|PMID:33333704|PMID:33675270|PMID:34867278|PMID:38739391
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349414	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:22796693|PMID:23188845|PMID:25741868|PMID:27338287|PMID:28492532|PMID:31139477|PMID:37597066
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1349414	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24951586
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1349414	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:22796693|PMID:23188845|PMID:25741868|PMID:27338287|PMID:28492532|PMID:31139477|PMID:34273913|PMID:37597066|PMID:39507854
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:12369017|PMID:15221801|PMID:16434659|PMID:17876723|PMID:18815062|PMID:19411774|PMID:25741868|PMID:26981555|PMID:27338287|PMID:28492532|PMID:28600779|PMID:33675270|PMID:36333862|PMID:8664904
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349414	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:12369017|PMID:15221801|PMID:16434659|PMID:17876723|PMID:18815062|PMID:19411774|PMID:22796693|PMID:23188845|PMID:25741868|PMID:26981555|PMID:27338287|PMID:28492532|PMID:28600779|PMID:31139477|PMID:33675270|PMID:36333862|PMID:37597066|PMID:8664904
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1549719	D	RGD:9068941	20200609	RGD		protein:decreased expression:gastrocnemius	PMID:14983401|REF_RGD_ID:1601347
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:27338287|PMID:28492532|PMID:34273913
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1349414	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:12369017|PMID:15221801|PMID:15241805|PMID:15545621|PMID:16010684|PMID:1618760|PMID:17011332|PMID:19050888|PMID:22818240|PMID:23871123|PMID:24033266|PMID:25741868|PMID:25834946|PMID:26049896|PMID:2649910|PMID:27238910|PMID:27338287|PMID:27725636|PMID:28492532|PMID:31941852|PMID:31980526|PMID:33083013|PMID:33333704|PMID:33675270|PMID:33971920|PMID:34273913|PMID:34867278|PMID:38739391|PMID:8693491
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532
8839115	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9008811	Tachypnea		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:25741868|PMID:27338287|PMID:28492532|PMID:34273913|PMID:39507854
8839133	Rgs3	regulator of G protein signaling 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8839133	Rgs3	regulator of G protein signaling 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8839133	Rgs3	regulator of G protein signaling 3	gene	DOID:10534	stomach cancer		ISO	RGD:731031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8839133	Rgs3	regulator of G protein signaling 3	gene	DOID:12528	lesion of sciatic nerve		ISO	RGD:3566	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:dorsal root ganglion	PMID:14550772|REF_RGD_ID:13524539
8839133	Rgs3	regulator of G protein signaling 3	gene	DOID:1324	lung cancer		ISO	RGD:731031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8839133	Rgs3	regulator of G protein signaling 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8839133	Rgs3	regulator of G protein signaling 3	gene	DOID:3070	high grade glioma		ISO	RGD:731031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8839133	Rgs3	regulator of G protein signaling 3	gene	DOID:365	bladder disease	treatment	ISO	RGD:3566	D	RGD:9068941	20200609	RGD		associated with hypertension	PMID:19689474|REF_RGD_ID:9684972
8839133	Rgs3	regulator of G protein signaling 3	gene	DOID:4362	cervical cancer		ISO	RGD:731031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8839133	Rgs3	regulator of G protein signaling 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8839133	Rgs3	regulator of G protein signaling 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8839133	Rgs3	regulator of G protein signaling 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839133	Rgs3	regulator of G protein signaling 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8839133	Rgs3	regulator of G protein signaling 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8839133	Rgs3	regulator of G protein signaling 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731031	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8839133	Rgs3	regulator of G protein signaling 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:731031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8839133	Rgs3	regulator of G protein signaling 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839133	Rgs3	regulator of G protein signaling 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8839133	Rgs3	regulator of G protein signaling 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8839203	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8839203	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:0070182	spermatogenic failure 13		ISO	RGD:1319196	D	RGD:7240710	20180130	OMIM			
8839203	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:0070182	spermatogenic failure 13		ISO	RGD:1319196	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 13 | ClinVar Annotator: match by term: TAF4B-related condition	PMID:25741868|PMID:28492532
8839203	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:10534	stomach cancer		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8839203	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:1115	sarcoma		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8839203	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:1324	lung cancer		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8839203	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:1909	melanoma		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8839203	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:3070	high grade glioma		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8839203	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:3275	thymoma		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8839203	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:4362	cervical cancer		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8839203	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:5041	esophageal cancer		ISO	RGD:1319196	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8839203	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839203	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8839203	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8839203	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839203	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8839203	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8839223	Ppp1ca	protein phosphatase 1 catalytic subunit alpha	gene	DOID:0060058	lymphoma		ISO	RGD:732541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8839223	Ppp1ca	protein phosphatase 1 catalytic subunit alpha	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:11132	D	RGD:9068941	20200609	RGD			PMID:12024026|REF_RGD_ID:737728
8839223	Ppp1ca	protein phosphatase 1 catalytic subunit alpha	gene	DOID:1324	lung cancer		ISO	RGD:732541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8839223	Ppp1ca	protein phosphatase 1 catalytic subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839223	Ppp1ca	protein phosphatase 1 catalytic subunit alpha	gene	DOID:6000	congestive heart failure		ISO	RGD:11132	D	RGD:9068941	20200609	RGD			PMID:12024026|REF_RGD_ID:737728
8839223	Ppp1ca	protein phosphatase 1 catalytic subunit alpha	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8839223	Ppp1ca	protein phosphatase 1 catalytic subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839223	Ppp1ca	protein phosphatase 1 catalytic subunit alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8839235	Hspb6	heat shock protein family B (small) member 6	gene	DOID:114	heart disease		ISO	RGD:1343256	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18948619
8839235	Hspb6	heat shock protein family B (small) member 6	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1343256	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18948619
8839242	CUNH2orf76	chromosome unknown C2orf76 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8839242	CUNH2orf76	chromosome unknown C2orf76 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8839242	CUNH2orf76	chromosome unknown C2orf76 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8839242	CUNH2orf76	chromosome unknown C2orf76 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1606162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8839242	CUNH2orf76	chromosome unknown C2orf76 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839242	CUNH2orf76	chromosome unknown C2orf76 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8839242	CUNH2orf76	chromosome unknown C2orf76 homolog	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8839242	CUNH2orf76	chromosome unknown C2orf76 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8839242	CUNH2orf76	chromosome unknown C2orf76 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8839266	Tut7	terminal uridylyl transferase 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8839266	Tut7	terminal uridylyl transferase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8839266	Tut7	terminal uridylyl transferase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8839266	Tut7	terminal uridylyl transferase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8839266	Tut7	terminal uridylyl transferase 7	gene	DOID:1115	sarcoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8839266	Tut7	terminal uridylyl transferase 7	gene	DOID:1909	melanoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8839266	Tut7	terminal uridylyl transferase 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8839266	Tut7	terminal uridylyl transferase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8839266	Tut7	terminal uridylyl transferase 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8839266	Tut7	terminal uridylyl transferase 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8839266	Tut7	terminal uridylyl transferase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839266	Tut7	terminal uridylyl transferase 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8839266	Tut7	terminal uridylyl transferase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839266	Tut7	terminal uridylyl transferase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8839304	Cdk14	cyclin dependent kinase 14	gene	DOID:1324	lung cancer		ISO	RGD:1313632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8839304	Cdk14	cyclin dependent kinase 14	gene	DOID:1909	melanoma		ISO	RGD:1313632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8839304	Cdk14	cyclin dependent kinase 14	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8839304	Cdk14	cyclin dependent kinase 14	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8839304	Cdk14	cyclin dependent kinase 14	gene	DOID:4362	cervical cancer		ISO	RGD:1313632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8839304	Cdk14	cyclin dependent kinase 14	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8839304	Cdk14	cyclin dependent kinase 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8839304	Cdk14	cyclin dependent kinase 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1313632	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8839304	Cdk14	cyclin dependent kinase 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839304	Cdk14	cyclin dependent kinase 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8839304	Cdk14	cyclin dependent kinase 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8839345	Znf462	zinc finger protein 462	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8839345	Znf462	zinc finger protein 462	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1352850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
8839345	Znf462	zinc finger protein 462	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1352850	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
8839345	Znf462	zinc finger protein 462	gene	DOID:1059	intellectual disability		ISO	RGD:1352850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
8839345	Znf462	zinc finger protein 462	gene	DOID:1324	lung cancer		ISO	RGD:1352850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8839345	Znf462	zinc finger protein 462	gene	DOID:14320	generalized anxiety disorder		ISO	RGD:1318312	D	RGD:9068941	20220825	MouseDO			
8839345	Znf462	zinc finger protein 462	gene	DOID:1909	melanoma		ISO	RGD:1352850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8839345	Znf462	zinc finger protein 462	gene	DOID:3275	thymoma		ISO	RGD:1352850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8839345	Znf462	zinc finger protein 462	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8839345	Znf462	zinc finger protein 462	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1352850	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29059373
8839345	Znf462	zinc finger protein 462	gene	DOID:5041	esophageal cancer		ISO	RGD:1352850	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8839345	Znf462	zinc finger protein 462	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1352850	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
8839345	Znf462	zinc finger protein 462	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839345	Znf462	zinc finger protein 462	gene	DOID:630	genetic disease		ISO	RGD:1352850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31616000|PMID:32543299
8839345	Znf462	zinc finger protein 462	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1352850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Speech delay	
8839345	Znf462	zinc finger protein 462	gene	DOID:9005848	WEISS-KRUSZKA SYNDROME		ISO	RGD:1352850	D	RGD:7240710	20191127	OMIM			
8839345	Znf462	zinc finger protein 462	gene	DOID:9005848	WEISS-KRUSZKA SYNDROME		ISO	RGD:1352850	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Metopic ridging-ptosis-facial dysmorphism syndrome | ClinVar Annotator: match by term: WEISS-KRUSZKA SYNDROME | ClinVar Annotator: match by term: Weiss-Kruszka syndrome | ClinVar Annotator: match by term: ZNF462-related condition	PMID:25741868|PMID:28492532|PMID:31361404|PMID:32543299|PMID:39069253|PMID:39287049|PMID:39501256
8839345	Znf462	zinc finger protein 462	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1352850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	
8839345	Znf462	zinc finger protein 462	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352850	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
8839415	Glg1	golgi glycoprotein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8839415	Glg1	golgi glycoprotein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8839415	Glg1	golgi glycoprotein 1	gene	DOID:10534	stomach cancer		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8839415	Glg1	golgi glycoprotein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8839415	Glg1	golgi glycoprotein 1	gene	DOID:1115	sarcoma		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8839415	Glg1	golgi glycoprotein 1	gene	DOID:1324	lung cancer		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8839415	Glg1	golgi glycoprotein 1	gene	DOID:1909	melanoma		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8839415	Glg1	golgi glycoprotein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8839415	Glg1	golgi glycoprotein 1	gene	DOID:3275	thymoma		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8839415	Glg1	golgi glycoprotein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8839415	Glg1	golgi glycoprotein 1	gene	DOID:4362	cervical cancer		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8839415	Glg1	golgi glycoprotein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8839415	Glg1	golgi glycoprotein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:734388	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8839415	Glg1	golgi glycoprotein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8839415	Glg1	golgi glycoprotein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839415	Glg1	golgi glycoprotein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734388	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8839415	Glg1	golgi glycoprotein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8839415	Glg1	golgi glycoprotein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839415	Glg1	golgi glycoprotein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8839415	Glg1	golgi glycoprotein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8839459	Csn1s1	casein alpha s1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8839483	Prps2	phosphoribosyl pyrophosphate synthetase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8839483	Prps2	phosphoribosyl pyrophosphate synthetase 2	gene	DOID:10534	stomach cancer		ISO	RGD:737326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8839483	Prps2	phosphoribosyl pyrophosphate synthetase 2	gene	DOID:1115	sarcoma		ISO	RGD:737326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8839483	Prps2	phosphoribosyl pyrophosphate synthetase 2	gene	DOID:1324	lung cancer		ISO	RGD:737326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8839483	Prps2	phosphoribosyl pyrophosphate synthetase 2	gene	DOID:1909	melanoma		ISO	RGD:737326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8839483	Prps2	phosphoribosyl pyrophosphate synthetase 2	gene	DOID:3275	thymoma		ISO	RGD:737326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8839483	Prps2	phosphoribosyl pyrophosphate synthetase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839483	Prps2	phosphoribosyl pyrophosphate synthetase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839483	Prps2	phosphoribosyl pyrophosphate synthetase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8839483	Prps2	phosphoribosyl pyrophosphate synthetase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8839501	Dhrs9	dehydrogenase/reductase 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8839501	Dhrs9	dehydrogenase/reductase 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8839501	Dhrs9	dehydrogenase/reductase 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8839501	Dhrs9	dehydrogenase/reductase 9	gene	DOID:9003996	Birth Weight		ISO	RGD:736293	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:34200176
8839501	Dhrs9	dehydrogenase/reductase 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8839501	Dhrs9	dehydrogenase/reductase 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839501	Dhrs9	dehydrogenase/reductase 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8839520	Lpcat4	lysophosphatidylcholine acyltransferase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8839520	Lpcat4	lysophosphatidylcholine acyltransferase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8839520	Lpcat4	lysophosphatidylcholine acyltransferase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8839520	Lpcat4	lysophosphatidylcholine acyltransferase 4	gene	DOID:1115	sarcoma		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8839520	Lpcat4	lysophosphatidylcholine acyltransferase 4	gene	DOID:1324	lung cancer		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8839520	Lpcat4	lysophosphatidylcholine acyltransferase 4	gene	DOID:1909	melanoma		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8839520	Lpcat4	lysophosphatidylcholine acyltransferase 4	gene	DOID:3275	thymoma		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8839520	Lpcat4	lysophosphatidylcholine acyltransferase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8839520	Lpcat4	lysophosphatidylcholine acyltransferase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1604192	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8839520	Lpcat4	lysophosphatidylcholine acyltransferase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839520	Lpcat4	lysophosphatidylcholine acyltransferase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839520	Lpcat4	lysophosphatidylcholine acyltransferase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604192	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8839537	Selenbp1	selenium binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8839537	Selenbp1	selenium binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8839537	Selenbp1	selenium binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:733754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8839537	Selenbp1	selenium binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:733754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8839537	Selenbp1	selenium binding protein 1	gene	DOID:1686	glaucoma		ISO	RGD:733754	D	RGD:9068941	20221027	RGD		mRNA:increased expression:optic nerve head (human)	PMID:28990066|REF_RGD_ID:155630605
8839537	Selenbp1	selenium binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8839537	Selenbp1	selenium binding protein 1	gene	DOID:2468	psychotic disorder		ISO	RGD:733754	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18163446
8839537	Selenbp1	selenium binding protein 1	gene	DOID:299	adenocarcinoma		ISO	RGD:733754	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14991897|PMID:15378696
8839537	Selenbp1	selenium binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:733754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8839537	Selenbp1	selenium binding protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8839537	Selenbp1	selenium binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733754	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8839537	Selenbp1	selenium binding protein 1	gene	DOID:5419	schizophrenia		ISO	RGD:733754	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16223876|PMID:18163446
8839537	Selenbp1	selenium binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839537	Selenbp1	selenium binding protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:733754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8839537	Selenbp1	selenium binding protein 1	gene	DOID:655	inherited metabolic disorder		ISO	RGD:733754	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29255262
8839537	Selenbp1	selenium binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8839537	Selenbp1	selenium binding protein 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:733754	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696|PMID:19424620
8839537	Selenbp1	selenium binding protein 1	gene	DOID:9000977	Halitosis		ISO	RGD:733754	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29255262
8839537	Selenbp1	selenium binding protein 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:733754	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16380993|PMID:18272210
8839537	Selenbp1	selenium binding protein 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:733754	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14991897
8839537	Selenbp1	selenium binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839537	Selenbp1	selenium binding protein 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:733754	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20623750
8839537	Selenbp1	selenium binding protein 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:733754	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18435490
8839537	Selenbp1	selenium binding protein 1	gene	DOID:9009235	Extraoral Halitosis due to Methanethiol Oxidase Deficiency		ISO	RGD:733754	D	RGD:7240710	20190315	OMIM			
8839537	Selenbp1	selenium binding protein 1	gene	DOID:9009235	Extraoral Halitosis due to Methanethiol Oxidase Deficiency		ISO	RGD:733754	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY | ClinVar Annotator: match by term: Extraoral halitosis due to methanethiol oxidase deficiency | ClinVar Annotator: match by term: SELENBP1-related condition	PMID:25741868|PMID:29255262
8839537	Selenbp1	selenium binding protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:733754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8839559	Abcf1	ATP binding cassette subfamily F member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8839559	Abcf1	ATP binding cassette subfamily F member 1	gene	DOID:10534	stomach cancer		ISO	RGD:734018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8839559	Abcf1	ATP binding cassette subfamily F member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8839559	Abcf1	ATP binding cassette subfamily F member 1	gene	DOID:1115	sarcoma		ISO	RGD:734018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8839559	Abcf1	ATP binding cassette subfamily F member 1	gene	DOID:1205	allergic disease		ISO	RGD:734018	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8839559	Abcf1	ATP binding cassette subfamily F member 1	gene	DOID:1909	melanoma		ISO	RGD:734018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8839559	Abcf1	ATP binding cassette subfamily F member 1	gene	DOID:2843	long QT syndrome		ISO	RGD:734018	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
8839559	Abcf1	ATP binding cassette subfamily F member 1	gene	DOID:3070	high grade glioma		ISO	RGD:734018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8839559	Abcf1	ATP binding cassette subfamily F member 1	gene	DOID:3275	thymoma		ISO	RGD:734018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8839559	Abcf1	ATP binding cassette subfamily F member 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:734018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8839559	Abcf1	ATP binding cassette subfamily F member 1	gene	DOID:4362	cervical cancer		ISO	RGD:734018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8839559	Abcf1	ATP binding cassette subfamily F member 1	gene	DOID:552	pneumonia		ISO	RGD:734018	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
8839559	Abcf1	ATP binding cassette subfamily F member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839559	Abcf1	ATP binding cassette subfamily F member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8839559	Abcf1	ATP binding cassette subfamily F member 1	gene	DOID:9000918	Disease Progression		ISO	RGD:734018	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
8839559	Abcf1	ATP binding cassette subfamily F member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839559	Abcf1	ATP binding cassette subfamily F member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8839559	Abcf1	ATP binding cassette subfamily F member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8839559	Abcf1	ATP binding cassette subfamily F member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:734018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8839589	Atat1	alpha tubulin acetyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8839589	Atat1	alpha tubulin acetyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8839589	Atat1	alpha tubulin acetyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8839589	Atat1	alpha tubulin acetyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347627	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8839589	Atat1	alpha tubulin acetyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839589	Atat1	alpha tubulin acetyltransferase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
8839589	Atat1	alpha tubulin acetyltransferase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8839589	Atat1	alpha tubulin acetyltransferase 1	gene	DOID:9002189	High Myopia		ISO	RGD:1347627	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
8839589	Atat1	alpha tubulin acetyltransferase 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1347627	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
8839589	Atat1	alpha tubulin acetyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839589	Atat1	alpha tubulin acetyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8839605	Srp54	signal recognition particle 54	gene	DOID:0060479	Shwachman-Diamond syndrome		ISO	RGD:1350478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1	PMID:25741868
8839605	Srp54	signal recognition particle 54	gene	DOID:0112135	severe congenital neutropenia 8		ISO	RGD:1350478	D	RGD:7240710	20200226	OMIM			
8839605	Srp54	signal recognition particle 54	gene	DOID:0112135	severe congenital neutropenia 8		ISO	RGD:1350478	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant | ClinVar Annotator: match by term: SHWACHMAN-DIAMOND SYNDROME-LIKE | ClinVar Annotator: match by term: SRP54-related condition	PMID:25741868|PMID:28492532|PMID:28972538|PMID:29914977
8839605	Srp54	signal recognition particle 54	gene	DOID:1909	melanoma		ISO	RGD:1350478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8839605	Srp54	signal recognition particle 54	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350478	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8839605	Srp54	signal recognition particle 54	gene	DOID:4362	cervical cancer		ISO	RGD:1350478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8839605	Srp54	signal recognition particle 54	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839605	Srp54	signal recognition particle 54	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8839605	Srp54	signal recognition particle 54	gene	DOID:630	genetic disease		ISO	RGD:1350478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:34549814
8839648	Thrsp	thyroid hormone responsive	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:11417	D	RGD:9068941	20240425	MouseDO		OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312	
8839648	Thrsp	thyroid hormone responsive	gene	DOID:305	carcinoma		ISO	RGD:734265	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8839648	Thrsp	thyroid hormone responsive	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:734265	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8839648	Thrsp	thyroid hormone responsive	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:734265	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732286	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:16543965|PMID:17549292|PMID:17880458|PMID:21812861|PMID:25741868|PMID:28520207|PMID:8584988|PMID:9657440|PMID:9827915
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:0051061	stroke		ISO	RGD:732286	D	RGD:9068941	20200609	RGD			PMID:11692020|REF_RGD_ID:1581026
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:732286	D	RGD:9068941	20200609	RGD		protein:increased expression:B lymphoblast:	PMID:16894461|REF_RGD_ID:11041855
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:0111907	thrombophilia due to thrombin defect		ISO	RGD:732286	D	RGD:7240710	20200729	OMIM			
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:0111907	thrombophilia due to thrombin defect		ISO	RGD:732286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT	PMID:25741868
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:10808	gastric ulcer		ISO	RGD:621495	D	RGD:9068941	20200609	RGD			PMID:11435721|REF_RGD_ID:708325
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:1115	sarcoma		ISO	RGD:732286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:732286	D	RGD:9068941	20200609	RGD			PMID:16642548|REF_RGD_ID:1581020
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:1909	melanoma		ISO	RGD:732286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:2211	factor XIII deficiency		ISO	RGD:732286	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Factor XIII deficiency | ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease	PMID:10877543|PMID:1353995|PMID:15456491|PMID:19422454|PMID:21824284|PMID:24329762|PMID:25741868|PMID:26852661|PMID:29604433|PMID:30578706|PMID:37006978|PMID:8555083
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:2213	hemorrhagic disease		ISO	RGD:732286	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:2349	arteriosclerosis		ISO	RGD:732286	D	RGD:9068941	20200609	RGD			PMID:11941274|REF_RGD_ID:1581023
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:2452	thrombophilia		ISO	RGD:732286	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:732286	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:3275	thymoma		ISO	RGD:732286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:5844	myocardial infarction		ISO	RGD:732286	D	RGD:7240710	20230505	OMIM			
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:5844	myocardial infarction		ISO	RGD:732286	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myocardial infarction, protection against | ClinVar Annotator: match by term: Myocardial infarction, susceptibility to	PMID:11057856|PMID:25741868|PMID:35969362|PMID:36369145|PMID:37832789|PMID:38332006|PMID:38540111
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:630	genetic disease		ISO	RGD:732286	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:8778	Crohn's disease		ISO	RGD:732286	D	RGD:9068941	20200609	RGD		associated with Fistula;protein:decreased activity:plasma:	PMID:7611208|REF_RGD_ID:10450739
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:8947	diabetic retinopathy		ISO	RGD:732286	D	RGD:9068941	20200609	RGD		protein:increased expression:optic choroid vascular plexus:	PMID:11375345|REF_RGD_ID:8693344
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:9000528	Coronary Disease		ISO	RGD:732286	D	RGD:9068941	20200609	RGD			PMID:11391716|REF_RGD_ID:1581030
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:732286	D	RGD:9068941	20200609	RGD			PMID:9550516|REF_RGD_ID:1581027
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1550288	D	RGD:9068941	20200609	RGD			PMID:12933578|REF_RGD_ID:10450744
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:732286	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10365735
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:732286	D	RGD:9068941	20200609	RGD			PMID:9920839|REF_RGD_ID:1581032
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:9003871	Venous Thrombosis	susceptibility	ISO	RGD:732286	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.V34L(human)	PMID:12358922|REF_RGD_ID:10450745
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:9005854	Factor XIII, A Subunit, Deficiency Of		ISO	RGD:732286	D	RGD:7240710	20180130	OMIM			
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:9005854	Factor XIII, A Subunit, Deficiency Of		ISO	RGD:732286	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: F13A1-related disorder | ClinVar Annotator: match by term: FACTOR XIII, A SUBUNIT, DEFICIENCY OF | ClinVar Annotator: match by term: Factor XIII subunit A deficiency | ClinVar Annotator: match by term: Factor XIII, A subunit, deficiency of	PMID:11057856|PMID:11167856|PMID:12801297|PMID:16543965|PMID:17549292|PMID:17880458|PMID:21812861|PMID:22995991|PMID:24118344|PMID:24194833|PMID:25741868|PMID:26503545|PMID:28492532|PMID:28520207|PMID:29068549|PMID:31064749|PMID:35969362|PMID:36369145|PMID:37832789|PMID:38332006|PMID:38540111|PMID:7727776|PMID:8130686|PMID:8547636|PMID:8584988|PMID:9531026|PMID:9657440|PMID:9827915
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:9006889	Uterine Hemorrhage		ISO	RGD:1550288	D	RGD:9068941	20200609	RGD			PMID:12933578|REF_RGD_ID:10450744
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1550288	D	RGD:9068941	20200609	RGD			PMID:22019897|REF_RGD_ID:11041813
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:9008217	Hemorrhage		ISO	RGD:732286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: bleeding	PMID:20179087|PMID:25741868|PMID:27363989|PMID:28748566|PMID:31064749|PMID:33114181
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:9286	priapism	susceptibility	ISO	RGD:732286	D	RGD:9068941	20200609	RGD		associated with sickle cell anemia;DNA:SNPs::multiple(human)	PMID:17408468|REF_RGD_ID:10450728
8839654	F13a1	coagulation factor XIII A chain	gene	DOID:9477	pulmonary embolism		ISO	RGD:732286	D	RGD:9068941	20200609	RGD			PMID:12958612|REF_RGD_ID:1581021
8839673	Usp2	ubiquitin specific peptidase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8839673	Usp2	ubiquitin specific peptidase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8839673	Usp2	ubiquitin specific peptidase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839673	Usp2	ubiquitin specific peptidase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731337	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21147110
8839720	Igdcc3	immunoglobulin superfamily DCC subclass member 3	gene	DOID:1115	sarcoma		ISO	RGD:1316476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8839720	Igdcc3	immunoglobulin superfamily DCC subclass member 3	gene	DOID:3275	thymoma		ISO	RGD:1316476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8839720	Igdcc3	immunoglobulin superfamily DCC subclass member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839720	Igdcc3	immunoglobulin superfamily DCC subclass member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839720	Igdcc3	immunoglobulin superfamily DCC subclass member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8839748	En1	engrailed homeobox 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1351603	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8839748	En1	engrailed homeobox 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:1557783	D	RGD:9068941	20200609	RGD			PMID:17015829|REF_RGD_ID:5687199
8839748	En1	engrailed homeobox 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:1351603	D	RGD:9068941	20200609	RGD		DNA:SNP:enhancer: (rs1438852) (human)	PMID:19345444|REF_RGD_ID:5687197
8839748	En1	engrailed homeobox 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:1618434	D	RGD:9068941	20220825	MouseDO			
8839748	En1	engrailed homeobox 1	gene	DOID:863	nervous system disease		ISO	RGD:1351603	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21892157
8839748	En1	engrailed homeobox 1	gene	DOID:9000530	ENDOVE SYNDROME, LIMB-BRAIN TYPE		ISO	RGD:1351603	D	RGD:7240710	20210414	OMIM			
8839748	En1	engrailed homeobox 1	gene	DOID:9000530	ENDOVE SYNDROME, LIMB-BRAIN TYPE		ISO	RGD:1351603	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EN1 syndrome	
8839748	En1	engrailed homeobox 1	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1351603	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
8839748	En1	engrailed homeobox 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1351603	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26213588
8839762	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8839762	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8839762	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:10534	stomach cancer		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8839762	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8839762	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8839762	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:4362	cervical cancer		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8839762	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8839762	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839762	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
8839762	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839762	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8839762	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8839780	Agfg1	ArfGAP with FG repeats 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8839780	Agfg1	ArfGAP with FG repeats 1	gene	DOID:0070311	oligoasthenoteratozoospermia		ISO	RGD:1321482	D	RGD:9068941	20220825	MouseDO			
8839780	Agfg1	ArfGAP with FG repeats 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8839780	Agfg1	ArfGAP with FG repeats 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8839780	Agfg1	ArfGAP with FG repeats 1	gene	DOID:3070	high grade glioma		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8839780	Agfg1	ArfGAP with FG repeats 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8839780	Agfg1	ArfGAP with FG repeats 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321481	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8839780	Agfg1	ArfGAP with FG repeats 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839780	Agfg1	ArfGAP with FG repeats 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
8839780	Agfg1	ArfGAP with FG repeats 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8839780	Agfg1	ArfGAP with FG repeats 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1321481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
8839780	Agfg1	ArfGAP with FG repeats 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
8839780	Agfg1	ArfGAP with FG repeats 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8839780	Agfg1	ArfGAP with FG repeats 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839780	Agfg1	ArfGAP with FG repeats 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8839780	Agfg1	ArfGAP with FG repeats 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8839780	Agfg1	ArfGAP with FG repeats 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
8839807	Pds5b	PDS5 cohesin associated factor B	gene	DOID:10534	stomach cancer		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8839807	Pds5b	PDS5 cohesin associated factor B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8839807	Pds5b	PDS5 cohesin associated factor B	gene	DOID:1115	sarcoma		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8839807	Pds5b	PDS5 cohesin associated factor B	gene	DOID:1324	lung cancer		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8839807	Pds5b	PDS5 cohesin associated factor B	gene	DOID:1909	melanoma		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8839807	Pds5b	PDS5 cohesin associated factor B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8839807	Pds5b	PDS5 cohesin associated factor B	gene	DOID:3070	high grade glioma		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8839807	Pds5b	PDS5 cohesin associated factor B	gene	DOID:3275	thymoma		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8839807	Pds5b	PDS5 cohesin associated factor B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8839807	Pds5b	PDS5 cohesin associated factor B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8839807	Pds5b	PDS5 cohesin associated factor B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839807	Pds5b	PDS5 cohesin associated factor B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8839807	Pds5b	PDS5 cohesin associated factor B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8839807	Pds5b	PDS5 cohesin associated factor B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839807	Pds5b	PDS5 cohesin associated factor B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8839807	Pds5b	PDS5 cohesin associated factor B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8839853	Msl1	MSL complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8839853	Msl1	MSL complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8839853	Msl1	MSL complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8839853	Msl1	MSL complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8839853	Msl1	MSL complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8839853	Msl1	MSL complex subunit 1	gene	DOID:3275	thymoma		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8839853	Msl1	MSL complex subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8839853	Msl1	MSL complex subunit 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8839853	Msl1	MSL complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839853	Msl1	MSL complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839867	Ccdc30	coiled-coil domain containing 30	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8839867	Ccdc30	coiled-coil domain containing 30	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1605139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
8839867	Ccdc30	coiled-coil domain containing 30	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8839867	Ccdc30	coiled-coil domain containing 30	gene	DOID:1324	lung cancer		ISO	RGD:1605139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8839867	Ccdc30	coiled-coil domain containing 30	gene	DOID:1909	melanoma		ISO	RGD:1605139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8839867	Ccdc30	coiled-coil domain containing 30	gene	DOID:3275	thymoma		ISO	RGD:1605139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8839867	Ccdc30	coiled-coil domain containing 30	gene	DOID:4362	cervical cancer		ISO	RGD:1605139	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8839867	Ccdc30	coiled-coil domain containing 30	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839867	Ccdc30	coiled-coil domain containing 30	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
8839867	Ccdc30	coiled-coil domain containing 30	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8839867	Ccdc30	coiled-coil domain containing 30	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839929	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8839929	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:0080600	COVID-19		ISO	RGD:1349772	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8839929	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:10534	stomach cancer		ISO	RGD:1349772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8839929	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:1059	intellectual disability		ISO	RGD:1349772	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
8839929	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:1909	melanoma		ISO	RGD:1349772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8839929	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8839929	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:4362	cervical cancer		ISO	RGD:1349772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8839929	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:5041	esophageal cancer		ISO	RGD:1349772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8839929	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8839929	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839929	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839929	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8839929	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8839960	Gnb4	G protein subunit beta 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8839960	Gnb4	G protein subunit beta 4	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1348614	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
8839960	Gnb4	G protein subunit beta 4	gene	DOID:0110206	Charcot-Marie-Tooth disease dominant intermediate F		ISO	RGD:1348614	D	RGD:7240710	20180130	OMIM			
8839960	Gnb4	G protein subunit beta 4	gene	DOID:0110206	Charcot-Marie-Tooth disease dominant intermediate F		ISO	RGD:1348614	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate F | ClinVar Annotator: match by term: GNB4-related condition	PMID:16199547|PMID:17576681|PMID:23434117|PMID:25741868|PMID:27549087|PMID:27908631|PMID:28492532|PMID:31211173|PMID:34071515|PMID:9536098
8839960	Gnb4	G protein subunit beta 4	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1348614	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25741868
8839960	Gnb4	G protein subunit beta 4	gene	DOID:1324	lung cancer		ISO	RGD:1348614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
8839960	Gnb4	G protein subunit beta 4	gene	DOID:1389	polyneuropathy		ISO	RGD:1348614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868
8839960	Gnb4	G protein subunit beta 4	gene	DOID:1909	melanoma		ISO	RGD:1348614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8839960	Gnb4	G protein subunit beta 4	gene	DOID:4362	cervical cancer		ISO	RGD:1348614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8839960	Gnb4	G protein subunit beta 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8839960	Gnb4	G protein subunit beta 4	gene	DOID:630	genetic disease		ISO	RGD:1348614	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
8839960	Gnb4	G protein subunit beta 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839960	Gnb4	G protein subunit beta 4	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1348614	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17892325
8839960	Gnb4	G protein subunit beta 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8839960	Gnb4	G protein subunit beta 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8839960	Gnb4	G protein subunit beta 4	gene	DOID:9120	amyloidosis		ISO	RGD:1348614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyloidosis	PMID:25741868
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy	PMID:18700894|PMID:25741868|PMID:28492532|PMID:32904964
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0060249	scoliosis		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:18700894|PMID:25741868|PMID:28492532|PMID:32904964
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0061132	autosomal recessive limb-girdle muscular dystrophy type 23		ISO	RGD:1318918	D	RGD:7240710	20190315	OMIM			
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0061132	autosomal recessive limb-girdle muscular dystrophy type 23		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23	PMID:10022829|PMID:10619025|PMID:11591858|PMID:11938437|PMID:12601554|PMID:16199547|PMID:17576681|PMID:17949279|PMID:18700894|PMID:19388593|PMID:20207543|PMID:21520333|PMID:24225367|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26962340|PMID:27124789|PMID:27159402|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:29376585|PMID:30055037|PMID:30301903|PMID:30827497|PMID:31066047|PMID:31309178|PMID:31983221|PMID:32266982|PMID:32444167|PMID:32827036|PMID:32904964|PMID:32936536|PMID:33304817|PMID:34281576|PMID:34528292|PMID:34559299|PMID:34777456|PMID:35239206|PMID:35868801|PMID:35902733|PMID:37182895|PMID:37476021|PMID:37526466|PMID:38703036|PMID:38975466|PMID:39213089|PMID:8957020|PMID:9536098|PMID:9674786
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0080000	muscular disease		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: muscle disorder	
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0080307	myofibrillar myopathy		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myofibrillar myopathy	PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0080600	COVID-19		ISO	RGD:1318918	D	RGD:9068941	20200611	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0080833	laryngomalacia		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0080918	polymicrogyria		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:18700894|PMID:25741868|PMID:28492532|PMID:32904964
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:1318918	D	RGD:7240710	20180130	OMIM			
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:1318918	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy	PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29706646|PMID:29707938|PMID:29773157|PMID:30055037|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31066047|PMID:31066050|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32936536|PMID:33077954|PMID:33219631|PMID:33442022|PMID:34103343|PMID:34281576|PMID:34528292|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:1318918	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative	PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29706646|PMID:29707938|PMID:29773157|PMID:30055037|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31040037|PMID:31066047|PMID:31066050|PMID:31069529|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31694722|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32910545|PMID:32936536|PMID:33077954|PMID:33219631|PMID:33442022|PMID:33762593|PMID:34103343|PMID:34281576|PMID:34528292|PMID:34559299|PMID:34925456|PMID:35734998|PMID:35902733|PMID:37526466|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:1318918	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative	PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:25741915|PMID:25741916|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29706646|PMID:29707938|PMID:29773157|PMID:30055037|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31040037|PMID:31066047|PMID:31066050|PMID:31069529|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31694722|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32910545|PMID:32936536|PMID:33077954|PMID:33219631|PMID:33442022|PMID:33762593|PMID:34103343|PMID:34281576|PMID:34528292|PMID:34559299|PMID:34777456|PMID:34925456|PMID:35734998|PMID:35902733|PMID:36703223|PMID:36860576|PMID:37526466|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:1318918	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative | ClinVar Annotator: match by term: Muscular dystrophy, congenital, merosin deficient or partially deficient	PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29706646|PMID:29707938|PMID:29773157|PMID:29961767|PMID:30055037|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31040037|PMID:31066047|PMID:31066050|PMID:31069529|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31694722|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32337335|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32910545|PMID:32936536|PMID:33077954|PMID:33124102|PMID:33219631|PMID:33250842|PMID:33442022|PMID:33762593|PMID:34103343|PMID:34281576|PMID:34528292|PMID:34559299|PMID:34777456|PMID:34925456|PMID:35628876|PMID:35734998|PMID:35902733|PMID:36703223|PMID:36860576|PMID:37526466|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:1318918	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative	PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29706646|PMID:29707938|PMID:29773157|PMID:29961767|PMID:30055037|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31040037|PMID:31066047|PMID:31066050|PMID:31069529|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31694722|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32337335|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32910545|PMID:32936536|PMID:33077954|PMID:33124102|PMID:33219631|PMID:33250842|PMID:33442022|PMID:33762593|PMID:33963534|PMID:34103343|PMID:34281576|PMID:34528292|PMID:34559299|PMID:34702656|PMID:34777456|PMID:34925456|PMID:35628876|PMID:35734998|PMID:35902733|PMID:36703223|PMID:36860576|PMID:37526466|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:1318918	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: LAMA2-related condition | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative	PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29706646|PMID:29707938|PMID:29773157|PMID:29961767|PMID:30055037|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31040037|PMID:31066047|PMID:31066050|PMID:31069529|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31694722|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32337335|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32910545|PMID:32936536|PMID:33057194|PMID:33077954|PMID:33124102|PMID:33219631|PMID:33250842|PMID:33442022|PMID:33762593|PMID:33963534|PMID:34103343|PMID:34281576|PMID:34528292|PMID:34559299|PMID:34602496|PMID:34702656|PMID:34777456|PMID:34925456|PMID:35628876|PMID:35734998|PMID:35885997|PMID:35902733|PMID:35982159|PMID:36380532|PMID:36703223|PMID:36860576|PMID:37038535|PMID:37182895|PMID:37206914|PMID:37526466|PMID:38747280|PMID:38962616|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:1318918	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Congenital merosin-deficient muscular dystrophy 1A | ClinVar Annotator: match by term: LAMA2-related condition | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, congenital, merosin deficient or partially deficient	PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:11992261|PMID:12100448|PMID:12552556|PMID:12601554|PMID:15121796|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28569743|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29493581|PMID:29706646|PMID:29707938|PMID:29773157|PMID:29961767|PMID:30055037|PMID:30091983|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31040037|PMID:31066047|PMID:31066050|PMID:31069529|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31404137|PMID:31694722|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32337335|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32910545|PMID:32936536|PMID:33057194|PMID:33077954|PMID:33124102|PMID:33219631|PMID:33250842|PMID:33304817|PMID:33442022|PMID:33762593|PMID:33963534|PMID:34103343|PMID:34281576|PMID:34528292|PMID:34559299|PMID:34602496|PMID:34702656|PMID:34777456|PMID:34925456|PMID:35628876|PMID:35710456|PMID:35734998|PMID:35885997|PMID:35902733|PMID:35982159|PMID:36380532|PMID:36413997|PMID:36703223|PMID:36860576|PMID:37038535|PMID:37182895|PMID:37206914|PMID:37404563|PMID:37415604|PMID:37526466|PMID:38703036|PMID:38747280|PMID:38962616|PMID:38975466|PMID:39213089|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Congenital merosin-deficient muscular dystrophy 1A | ClinVar Annotator: match by term: LAMA2-related condition | ClinVar Annotator: match by term: LAMA2-related disorder | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, congenital merosin-deficient	PMID:10022829|PMID:10611118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:11287370|PMID:11591858|PMID:11938437|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19388593|PMID:20207543|PMID:21520333|PMID:21922472|PMID:21953594|PMID:22675738|PMID:23326386|PMID:23911319|PMID:24033266|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:25124546|PMID:25214167|PMID:25525159|PMID:25741868|PMID:26304763|PMID:26467025|PMID:26962340|PMID:27124789|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27447704|PMID:27854218|PMID:27858741|PMID:27858771|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28688748|PMID:28877744|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29487616|PMID:30055037|PMID:30147969|PMID:30301903|PMID:30827497|PMID:31040037|PMID:31066047|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32904964|PMID:32936536|PMID:33219631|PMID:34281576|PMID:34528292|PMID:34559299|PMID:34702656|PMID:34777456|PMID:35902733|PMID:36373293|PMID:36860576|PMID:37182895|PMID:37415604|PMID:37526466|PMID:38747280|PMID:38984033|PMID:39213089|PMID:39941024|PMID:7550355|PMID:8957020|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A	treatment	ISO	RGD:1318919	D	RGD:9068941	20200609	RGD			PMID:28714989|REF_RGD_ID:13605609
8839973	Lama2	laminin subunit alpha 2	gene	DOID:0111338	isolated elevated serum creatine phosphokinase levels		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC	PMID:18700894|PMID:25741868|PMID:28445022|PMID:28492532|PMID:30055037|PMID:32904964|PMID:9674786
8839973	Lama2	laminin subunit alpha 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8839973	Lama2	laminin subunit alpha 2	gene	DOID:1059	intellectual disability		ISO	RGD:1318918	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:24082139|PMID:24611677|PMID:25741868|PMID:26467025|PMID:27896284|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:1059	intellectual disability		ISO	RGD:1318918	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:24082139|PMID:24611677|PMID:25741868|PMID:26467025|PMID:27896284|PMID:28492532|PMID:31066047|PMID:31395899|PMID:33442022|PMID:34281576|PMID:36703223
8839973	Lama2	laminin subunit alpha 2	gene	DOID:1059	intellectual disability		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:18700894|PMID:20207543|PMID:24082139|PMID:24611677|PMID:25741868|PMID:27896284|PMID:28182637|PMID:28492532|PMID:31066047|PMID:31395899|PMID:32904964|PMID:33442022|PMID:34281576
8839973	Lama2	laminin subunit alpha 2	gene	DOID:1059	intellectual disability		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:18700894|PMID:20207543|PMID:24611677|PMID:25741868|PMID:28182637|PMID:28492532|PMID:32904964
8839973	Lama2	laminin subunit alpha 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1318918	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25648254
8839973	Lama2	laminin subunit alpha 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8839973	Lama2	laminin subunit alpha 2	gene	DOID:1115	sarcoma		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
8839973	Lama2	laminin subunit alpha 2	gene	DOID:11720	distal myopathy		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal myopathy	PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:25741868|PMID:27854218|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:11830	myopia		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:11830	myopia	susceptibility	ISO	RGD:1318918	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs12205363(human)	PMID:27611182|REF_RGD_ID:13605610
8839973	Lama2	laminin subunit alpha 2	gene	DOID:11836	clubfoot		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:18700894|PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:1247	blood coagulation disease		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:18700894|PMID:25741868|PMID:28492532|PMID:32904964
8839973	Lama2	laminin subunit alpha 2	gene	DOID:1272	telangiectasis		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telangiectasia	PMID:16199547|PMID:18700894|PMID:25741868|PMID:28492532|PMID:32444167|PMID:32904964
8839973	Lama2	laminin subunit alpha 2	gene	DOID:12849	autistic disorder		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:18700894|PMID:20207543|PMID:24611677|PMID:25741868|PMID:28182637|PMID:28492532|PMID:32904964
8839973	Lama2	laminin subunit alpha 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318918	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:26467025|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:13366	Stiff-Person syndrome		ISO	RGD:1318918	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Stiff-person syndrome, congenital	PMID:24225367|PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:1459	hypothyroidism		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:1591	renovascular hypertension		ISO	RGD:1308889	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:heart	PMID:10773239|REF_RGD_ID:1600206
8839973	Lama2	laminin subunit alpha 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:18700894|PMID:25741868|PMID:28445022|PMID:28492532|PMID:30055037|PMID:32904964|PMID:9674786
8839973	Lama2	laminin subunit alpha 2	gene	DOID:1826	epilepsy		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:18700894|PMID:20207543|PMID:24611677|PMID:25741868|PMID:28182637|PMID:28492532|PMID:32904964
8839973	Lama2	laminin subunit alpha 2	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:1909	melanoma		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8839973	Lama2	laminin subunit alpha 2	gene	DOID:1969	cerebral palsy		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:2340	craniosynostosis		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:18700894|PMID:20207543|PMID:24611677|PMID:25741868|PMID:28182637|PMID:28492532|PMID:32904964
8839973	Lama2	laminin subunit alpha 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
8839973	Lama2	laminin subunit alpha 2	gene	DOID:2841	asthma		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:3275	thymoma		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8839973	Lama2	laminin subunit alpha 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8839973	Lama2	laminin subunit alpha 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8839973	Lama2	laminin subunit alpha 2	gene	DOID:423	myopathy		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:12601554|PMID:18700894|PMID:20207543|PMID:21520333|PMID:24611677|PMID:25741868|PMID:26962340|PMID:27932089|PMID:28492532|PMID:29376585|PMID:32827036|PMID:32904964
8839973	Lama2	laminin subunit alpha 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8839973	Lama2	laminin subunit alpha 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318918	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:5419	schizophrenia		ISO	RGD:1318918	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266|PMID:23042115
8839973	Lama2	laminin subunit alpha 2	gene	DOID:543	dystonia		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:16199547|PMID:18700894|PMID:25741868|PMID:28492532|PMID:32444167|PMID:32904964
8839973	Lama2	laminin subunit alpha 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8839973	Lama2	laminin subunit alpha 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17949279|PMID:19388593|PMID:20207543|PMID:25525159|PMID:25741868|PMID:28492532|PMID:30055037
8839973	Lama2	laminin subunit alpha 2	gene	DOID:630	genetic disease		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10611118|PMID:11938437|PMID:12552556|PMID:12601554|PMID:16199547|PMID:17949279|PMID:18414213|PMID:18700894|PMID:20207543|PMID:21520333|PMID:21953594|PMID:24223650|PMID:24611677|PMID:25741868|PMID:26304763|PMID:26467025|PMID:26962340|PMID:28492532|PMID:29376585|PMID:30055037|PMID:32266982|PMID:32827036|PMID:32904964|PMID:34528292|PMID:35902733|PMID:9541105
8839973	Lama2	laminin subunit alpha 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8839973	Lama2	laminin subunit alpha 2	gene	DOID:7319	axonal neuropathy		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral axonal neuropathy	PMID:25741868
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9000495	Tremor		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9001722	Dysarthria		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment | ClinVar Annotator: match by term: Mental deterioration	PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9003760	Myalgia		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:18700894|PMID:25741868|PMID:28445022|PMID:28492532|PMID:30055037|PMID:32904964|PMID:9674786
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:18700894|PMID:25741868|PMID:28492532|PMID:32904964
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1308889	D	RGD:9068941	20200609	RGD			PMID:10335943|REF_RGD_ID:1600207
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9004866	Ataxia		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Incoordination | ClinVar Annotator: match by term: Truncal ataxia	PMID:16199547|PMID:18700894|PMID:25741868|PMID:28492532|PMID:32444167|PMID:32904964
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:25741868
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle weakness | ClinVar Annotator: match by term: Progressive muscle weakness	PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:12601554|PMID:18700894|PMID:20207543|PMID:21520333|PMID:24611677|PMID:25741868|PMID:26104111|PMID:26962340|PMID:28492532|PMID:29376585|PMID:32827036|PMID:32904964
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9005890	Disproportionate Tall Stature		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate tall stature	PMID:18700894|PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9006743	Spasm		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9007352	Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY | ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to partial LAMA2 deficiency	PMID:10852549|PMID:12552556|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18700894|PMID:20207543|PMID:22426012|PMID:24225367|PMID:25587058|PMID:25741868|PMID:26467025|PMID:27159402|PMID:27854218|PMID:28182637|PMID:28492532|PMID:28688748|PMID:30055037|PMID:30301903|PMID:32154989|PMID:32904964|PMID:34528292|PMID:35902733|PMID:9536098|PMID:9674786
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:16199547|PMID:18700894|PMID:25741868|PMID:28492532|PMID:32444167|PMID:32904964
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9008993	Myotonia		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myotonia	PMID:18700894|PMID:27932089|PMID:28492532|PMID:32904964
8839973	Lama2	laminin subunit alpha 2	gene	DOID:936	brain disease		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9649	congenital nystagmus		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital nystagmus	PMID:25741868|PMID:28492532
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:16199547|PMID:18700894|PMID:25741868|PMID:28492532|PMID:32444167|PMID:32904964
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9884	muscular dystrophy		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:12601554|PMID:18700894|PMID:20207543|PMID:21520333|PMID:24611677|PMID:25741868|PMID:26962340|PMID:28492532|PMID:29376585|PMID:32827036|PMID:32904964
8839973	Lama2	laminin subunit alpha 2	gene	DOID:9884	muscular dystrophy	susceptibility	ISO	RGD:1318918	D	RGD:9068941	20200609	RGD		DNA:splice-site mutation, nonsense mutation	PMID:7550355|REF_RGD_ID:1600200
8840050	Tgm2	transglutaminase 2	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:732488	D	RGD:9068941	20220825	MouseDO		OMIM:606391	
8840050	Tgm2	transglutaminase 2	gene	DOID:10608	celiac disease		ISO	RGD:732487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17190764
8840050	Tgm2	transglutaminase 2	gene	DOID:10763	hypertension		ISO	RGD:732487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17898543
8840050	Tgm2	transglutaminase 2	gene	DOID:1324	lung cancer		ISO	RGD:732487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8840050	Tgm2	transglutaminase 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:732487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30108682
8840050	Tgm2	transglutaminase 2	gene	DOID:3068	glioblastoma		ISO	RGD:732487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:16170020|PMID:17099729
8840050	Tgm2	transglutaminase 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:732487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329
8840050	Tgm2	transglutaminase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8840050	Tgm2	transglutaminase 2	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:732488	D	RGD:9068941	20201015	RGD		associated with Schistosomiasis Japonica	PMID:31200771|REF_RGD_ID:39938956
8840050	Tgm2	transglutaminase 2	gene	DOID:5082	liver cirrhosis	treatment	ISO	RGD:732488	D	RGD:9068941	20201015	RGD		associated with Schistosomiasis Japonica	PMID:31200771|REF_RGD_ID:39938956
8840050	Tgm2	transglutaminase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8840050	Tgm2	transglutaminase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8840050	Tgm2	transglutaminase 2	gene	DOID:8398	osteoarthritis		ISO	RGD:732487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
8840050	Tgm2	transglutaminase 2	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:732487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17068819
8840050	Tgm2	transglutaminase 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:621081	D	RGD:9068941	20200609	RGD			PMID:12702643|REF_RGD_ID:1302539
8840050	Tgm2	transglutaminase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
8840050	Tgm2	transglutaminase 2	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:732487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16170020
8840050	Tgm2	transglutaminase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19579870
8840050	Tgm2	transglutaminase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8840067	Fbxo22	F-box protein 22	gene	DOID:10534	stomach cancer		ISO	RGD:1315406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8840067	Fbxo22	F-box protein 22	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
8840067	Fbxo22	F-box protein 22	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
8840067	Fbxo22	F-box protein 22	gene	DOID:3070	high grade glioma		ISO	RGD:1315406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
8840067	Fbxo22	F-box protein 22	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
8840067	Fbxo22	F-box protein 22	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
8840067	Fbxo22	F-box protein 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8840067	Fbxo22	F-box protein 22	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8840067	Fbxo22	F-box protein 22	gene	DOID:9009363	Tayoun-Maawali syndrome		ISO	RGD:1315406	D	RGD:7240710	20250730	OMIM			
8840067	Fbxo22	F-box protein 22	gene	DOID:9009363	Tayoun-Maawali syndrome		ISO	RGD:1315406	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TAYOUN-MAAWALI SYNDROME	
8840078	Sv2b	synaptic vesicle glycoprotein 2B	gene	DOID:10283	prostate cancer		ISO	RGD:1343420	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
8840078	Sv2b	synaptic vesicle glycoprotein 2B	gene	DOID:10283	prostate cancer		ISO	RGD:1343420	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
8840078	Sv2b	synaptic vesicle glycoprotein 2B	gene	DOID:10534	stomach cancer		ISO	RGD:1343420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8840078	Sv2b	synaptic vesicle glycoprotein 2B	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1332062	D	RGD:9068941	20211203	RGD		protein:decreased expression:multiple (mouse)	PMID:28173138|REF_RGD_ID:11535337
8840078	Sv2b	synaptic vesicle glycoprotein 2B	gene	DOID:1324	lung cancer		ISO	RGD:1343420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8840078	Sv2b	synaptic vesicle glycoprotein 2B	gene	DOID:3275	thymoma		ISO	RGD:1343420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
8840078	Sv2b	synaptic vesicle glycoprotein 2B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
8840078	Sv2b	synaptic vesicle glycoprotein 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1343420	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
8840078	Sv2b	synaptic vesicle glycoprotein 2B	gene	DOID:557	kidney disease		ISO	RGD:1343420	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16943307
8840111	Znf608	zinc finger protein 608	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
8840111	Znf608	zinc finger protein 608	gene	DOID:0060058	lymphoma		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
8840111	Znf608	zinc finger protein 608	gene	DOID:10534	stomach cancer		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
8840111	Znf608	zinc finger protein 608	gene	DOID:1909	melanoma		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
8840111	Znf608	zinc finger protein 608	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
8840111	Znf608	zinc finger protein 608	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
8840111	Znf608	zinc finger protein 608	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
8840111	Znf608	zinc finger protein 608	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
8840111	Znf608	zinc finger protein 608	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
8840111	Znf608	zinc finger protein 608	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
8840137	Adad1	adenosine deaminase domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1606972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
8840137	Adad1	adenosine deaminase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
8840159	Hoxb4	homeobox B4	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
8840191	Arg1	arginase 1	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1353986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
8840191	Arg1	arginase 1	gene	DOID:0060180	colitis	severity	ISO	RGD:1353986	D	RGD:9068941	20201023	RGD			PMID:28423665|REF_RGD_ID:39939041
8840191	Arg1	arginase 1	gene	DOID:0080000	muscular disease		ISO	RGD:1353986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239484
8840191	Arg1	arginase 1	gene	DOID:0080642	Middle East respiratory syndrome		ISO	RGD:736430	D	RGD:9068941	20200619	RGD		mRNA:increased expression:lung	PMID:31838832|REF_RGD_ID:30309204
8840191	Arg1	arginase 1	gene	DOID:0080998	acute necrotizing pancreatitis		ISO	RGD:2150	D	RGD:9068941	20200609	RGD			PMID:20697209|REF_RGD_ID:4142795
8840191	Arg1	arginase 1	gene	DOID:10320	asbestosis		ISO	RGD:1353986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26699812
8840191	Arg1	arginase 1	gene	DOID:10325	silicosis		ISO	RGD:1353986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15292275
8840191	Arg1	arginase 1	gene	DOID:10325	silicosis		ISO	RGD:2150	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (rat)	PMID:17365572|REF_RGD_ID:4143368
8840191	Arg1	arginase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
8840191	Arg1	arginase 1	gene	DOID:10763	hypertension		ISO	RGD:2150	D	RGD:9068941	20200609	RGD			PMID:18475148|REF_RGD_ID:4142834
8840191	Arg1	arginase 1	gene	DOID:10763	hypertension		ISO	RGD:2150	D	RGD:9068941	20200609	RGD		mRNA:increased expression:aorta (rat)	PMID:17223136|REF_RGD_ID:1626296
8840191	Arg1	arginase 1	gene	DOID:13141	uveitis		ISO	RGD:2150	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:eye (rat)	PMID:12470967|REF_RGD_ID:631755
8840191	Arg1	arginase 1	gene	DOID:13580	cholestasis		ISO	RGD:2150	D	RGD:9068941	20200609	RGD		protein:altered activity:liver (rat)	PMID:15916970|REF_RGD_ID:4143230
8840191	Arg1	arginase 1	gene	DOID:2841	asthma		ISO	RGD:1353986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19281908|PMID:19800904
8840191	Arg1	arginase 1	gene	DOID:2841	asthma		ISO	RGD:1353986	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2781667 (human)	PMID:20124949|REF_RGD_ID:5129205
8840191	Arg1	arginase 1	gene	DOID:2841	asthma		ISO	RGD:1353986	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung, mononuclear cell (human)	PMID:12813022|REF_RGD_ID:4143187
8840191	Arg1	arginase 1	gene	DOID:2841	asthma		ISO	RGD:736430	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:12813022|REF_RGD_ID:4143187
8840191	Arg1	arginase 1	gene	DOID:2914	immune system disease		ISO	RGD:1353986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239484
8840191	Arg1	arginase 1	gene	DOID:3021	acute kidney failure		ISO	RGD:2150	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:renal tubule (rat)	PMID:12371970|REF_RGD_ID:631989
8840191	Arg1	arginase 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1353986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
8840191	Arg1	arginase 1	gene	DOID:409	liver disease		ISO	RGD:2150	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (rat)	PMID:16872590|REF_RGD_ID:1599211
8840191	Arg1	arginase 1	gene	DOID:421	hair disease		ISO	RGD:1353986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239484
8840191	Arg1	arginase 1	gene	DOID:5199	ureteral obstruction		ISO	RGD:2150	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney, glomerulus (rat)	PMID:18552509|REF_RGD_ID:4143282
8840191	Arg1	arginase 1	gene	DOID:630	genetic disease		ISO	RGD:1353986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
8840191	Arg1	arginase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353986	D	RGD:855487